9640	209572705	Disease	p.Gly1046Arg	613624.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613624	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5	OMIM	4	pfam00096	108860697,NP_055445
55572	124007188	Disease	p.Asn430Ser	613622.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613622	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	556	COG0665	8923708,NP_060017
55572	124007188	Disease	p.Asn430Ser	613622.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613622	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	433	COG0579	8923708,NP_060017
55572	124007188	Disease	p.Asn430Ser	613622.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613622	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	1508	pfam01266	8923708,NP_060017
80224	116242683	Disease	p.Gly56Arg	613621.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613621	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	68	COG0489	157384956,NP_079428
3077	21040347	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	103	cd07698	NULL
3077	21040347	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	93	cd05766	NULL
3077	21040347	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	163	cd00096	NULL
3077	21040347	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	138	cd00098	NULL
3077	21040347	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	92	cd05770	NULL
3077	21040347	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	92	cd05767	NULL
3077	21040351	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	No Domain	N/A	NULL
3077	21040349	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	No Domain	N/A	NULL
3077	21040357	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	No Domain	N/A	NULL
3077	21040343	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	No Domain	N/A	NULL
3077	21040341	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	No Domain	N/A	NULL
3077	21040355	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	No Domain	N/A	NULL
3077	2497915	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	125	cd00096	4504377,NP_000401
3077	2497915	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	107	cd00098	4504377,NP_000401
3077	2497915	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	78	cd05767	4504377,NP_000401
3077	2497915	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	78	cd05770	4504377,NP_000401
3077	2497915	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	85	cd07698	4504377,NP_000401
3077	2497915	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	79	cd05766	4504377,NP_000401
3077	2497915	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	77	smart00407	4504377,NP_000401
3077	2497915	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	126	cd05771	4504377,NP_000401
3077	2497915	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	90	pfam07654	4504377,NP_000401
3077	21040353	Disease	p.Cys282Tyr	613609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO||PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO||HEMOCHROMATOSIS, JUVENILE, DIGENIC||ALZHEIMER DISEASE, SUSCEPTIBILITY TO||TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	No Domain	N/A	NULL
3077	21040347	Disease	p.His63Asp	613609.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	38	pfam00129	NULL
3077	21040351	Disease	p.His63Asp	613609.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	130	pfam00129	NULL
3077	21040349	Disease	p.His63Asp	613609.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	130	pfam00129	NULL
3077	21040357	Disease	p.His63Asp	613609.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	No Domain	N/A	NULL
3077	21040343	Disease	p.His63Asp	613609.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	38	pfam00129	NULL
3077	21040341	Disease	p.His63Asp	613609.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	38	pfam00129	NULL
3077	21040355	Disease	p.His63Asp	613609.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	40	cd05767	NULL
3077	21040355	Disease	p.His63Asp	613609.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	40	cd05770	NULL
3077	21040355	Disease	p.His63Asp	613609.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	78	cd05771	NULL
3077	21040355	Disease	p.His63Asp	613609.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	41	pfam07654	NULL
3077	21040355	Disease	p.His63Asp	613609.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	39	cd05766	NULL
3077	21040355	Disease	p.His63Asp	613609.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	25	smart00407	NULL
3077	21040355	Disease	p.His63Asp	613609.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	54	cd00098	NULL
3077	21040355	Disease	p.His63Asp	613609.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	42	cd07698	NULL
3077	21040355	Disease	p.His63Asp	613609.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	35	cd00096	NULL
3077	2497915	Disease	p.His63Asp	613609.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	38	pfam00129	4504377,NP_000401
3077	21040353	Disease	p.His63Asp	613609.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7	OMIM	63	pfam00129	NULL
3077	21040347	Disease	p.Ser65Cys	613609.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	40	pfam00129	NULL
3077	21040351	Disease	p.Ser65Cys	613609.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	132	pfam00129	NULL
3077	21040349	Disease	p.Ser65Cys	613609.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	132	pfam00129	NULL
3077	21040357	Disease	p.Ser65Cys	613609.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	NULL
3077	21040343	Disease	p.Ser65Cys	613609.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	40	pfam00129	NULL
3077	21040341	Disease	p.Ser65Cys	613609.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	40	pfam00129	NULL
3077	21040355	Disease	p.Ser65Cys	613609.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	42	cd05767	NULL
3077	21040355	Disease	p.Ser65Cys	613609.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	42	cd05770	NULL
3077	21040355	Disease	p.Ser65Cys	613609.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	80	cd05771	NULL
3077	21040355	Disease	p.Ser65Cys	613609.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	43	pfam07654	NULL
3077	21040355	Disease	p.Ser65Cys	613609.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	41	cd05766	NULL
3077	21040355	Disease	p.Ser65Cys	613609.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	27	smart00407	NULL
3077	21040355	Disease	p.Ser65Cys	613609.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	56	cd00098	NULL
3077	21040355	Disease	p.Ser65Cys	613609.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	45	cd07698	NULL
3077	21040355	Disease	p.Ser65Cys	613609.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	37	cd00096	NULL
3077	2497915	Disease	p.Ser65Cys	613609.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	40	pfam00129	4504377,NP_000401
3077	21040353	Disease	p.Ser65Cys	613609.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	65	pfam00129	NULL
3077	21040347	Disease	p.Val53Met	613609.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	28	pfam00129	NULL
3077	21040351	Disease	p.Val53Met	613609.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	120	pfam00129	NULL
3077	21040349	Disease	p.Val53Met	613609.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	120	pfam00129	NULL
3077	21040357	Disease	p.Val53Met	613609.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	No Domain	N/A	NULL
3077	21040343	Disease	p.Val53Met	613609.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	28	pfam00129	NULL
3077	21040341	Disease	p.Val53Met	613609.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	28	pfam00129	NULL
3077	21040355	Disease	p.Val53Met	613609.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	30	cd05767	NULL
3077	21040355	Disease	p.Val53Met	613609.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	30	cd05770	NULL
3077	21040355	Disease	p.Val53Met	613609.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	69	cd05771	NULL
3077	21040355	Disease	p.Val53Met	613609.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	30	pfam07654	NULL
3077	21040355	Disease	p.Val53Met	613609.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	29	cd05766	NULL
3077	21040355	Disease	p.Val53Met	613609.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	14	smart00407	NULL
3077	21040355	Disease	p.Val53Met	613609.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	44	cd00098	NULL
3077	21040355	Disease	p.Val53Met	613609.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	32	cd07698	NULL
3077	21040355	Disease	p.Val53Met	613609.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	25	cd00096	NULL
3077	2497915	Disease	p.Val53Met	613609.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	28	pfam00129	4504377,NP_000401
3077	21040353	Disease	p.Val53Met	613609.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	53	pfam00129	NULL
3077	21040347	Disease	p.Val59Met	613609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	34	pfam00129	NULL
3077	21040351	Disease	p.Val59Met	613609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	126	pfam00129	NULL
3077	21040349	Disease	p.Val59Met	613609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	126	pfam00129	NULL
3077	21040357	Disease	p.Val59Met	613609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	No Domain	N/A	NULL
3077	21040343	Disease	p.Val59Met	613609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	34	pfam00129	NULL
3077	21040341	Disease	p.Val59Met	613609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	34	pfam00129	NULL
3077	21040355	Disease	p.Val59Met	613609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	36	cd05767	NULL
3077	21040355	Disease	p.Val59Met	613609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	36	cd05770	NULL
3077	21040355	Disease	p.Val59Met	613609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	75	cd05771	NULL
3077	21040355	Disease	p.Val59Met	613609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	36	pfam07654	NULL
3077	21040355	Disease	p.Val59Met	613609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	35	cd05766	NULL
3077	21040355	Disease	p.Val59Met	613609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	20	smart00407	NULL
3077	21040355	Disease	p.Val59Met	613609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	50	cd00098	NULL
3077	21040355	Disease	p.Val59Met	613609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	38	cd07698	NULL
3077	21040355	Disease	p.Val59Met	613609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	31	cd00096	NULL
3077	2497915	Disease	p.Val59Met	613609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	34	pfam00129	4504377,NP_000401
3077	21040353	Disease	p.Val59Met	613609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HFE POLYMORPHISM	OMIM	59	pfam00129	NULL
3077	21040347	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	105	pfam00129	NULL
3077	21040351	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	36	cd00098	NULL
3077	21040351	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	26	cd05770	NULL
3077	21040351	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	10	smart00407	NULL
3077	21040351	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	24	pfam07654	NULL
3077	21040351	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	26	cd05767	NULL
3077	21040351	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	65	cd05771	NULL
3077	21040351	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	25	cd05766	NULL
3077	21040351	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	28	cd07698	NULL
3077	21040351	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	9	cd00096	NULL
3077	21040349	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	5	pfam07654	NULL
3077	21040349	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	46	cd05771	NULL
3077	21040349	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	8	cd05766	NULL
3077	21040349	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	10	cd07698	NULL
3077	21040349	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	6	cd00098	NULL
3077	21040349	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	11	cd05767	NULL
3077	21040349	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	10	cd05770	NULL
3077	21040357	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	NULL
3077	21040343	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	14	pfam07654	NULL
3077	21040343	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	26	cd00098	NULL
3077	21040343	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	107	pfam00129	NULL
3077	21040343	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	18	cd07698	NULL
3077	21040343	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	15	cd05767	NULL
3077	21040343	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	14	cd05770	NULL
3077	21040343	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	55	cd05771	NULL
3077	21040343	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	15	cd05766	NULL
3077	21040341	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	32	cd07698	NULL
3077	21040341	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	29	cd05766	NULL
3077	21040341	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	14	smart00407	NULL
3077	21040341	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	132	pfam00129	NULL
3077	21040341	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	30	cd05767	NULL
3077	21040341	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	25	cd00096	NULL
3077	21040341	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	30	pfam07654	NULL
3077	21040341	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	44	cd00098	NULL
3077	21040341	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	30	cd05770	NULL
3077	21040355	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	NULL
3077	2497915	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	105	pfam00129	4504377,NP_000401
3077	21040353	Disease	p.Gln127His	613609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	129	pfam00129	NULL
3077	21040347	Disease	p.Arg330Met	613609.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	NULL
3077	21040351	Disease	p.Arg330Met	613609.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	NULL
3077	21040349	Disease	p.Arg330Met	613609.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	NULL
3077	21040357	Disease	p.Arg330Met	613609.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	NULL
3077	21040343	Disease	p.Arg330Met	613609.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	NULL
3077	21040341	Disease	p.Arg330Met	613609.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	NULL
3077	21040355	Disease	p.Arg330Met	613609.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	NULL
3077	2497915	Disease	p.Arg330Met	613609.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	4504377,NP_000401
3077	21040353	Disease	p.Arg330Met	613609.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	NULL
3077	21040347	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	82	pfam00129	NULL
3077	21040351	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	2	cd00098	NULL
3077	21040351	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	37	cd05771	NULL
3077	21040351	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	172	pfam00129	NULL
3077	21040349	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	29	cd05771	NULL
3077	21040349	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	172	pfam00129	NULL
3077	21040357	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	NULL
3077	21040343	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	82	pfam00129	NULL
3077	21040343	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	10	cd05771	NULL
3077	21040341	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	7	cd07698	NULL
3077	21040341	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	7	cd05766	NULL
3077	21040341	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	82	pfam00129	NULL
3077	21040341	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	6	cd00098	NULL
3077	21040355	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	81	cd05767	NULL
3077	21040355	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	81	cd05770	NULL
3077	21040355	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	129	cd05771	NULL
3077	21040355	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	93	pfam07654	NULL
3077	21040355	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	82	cd05766	NULL
3077	21040355	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	80	smart00407	NULL
3077	21040355	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	110	cd00098	NULL
3077	21040355	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	88	cd07698	NULL
3077	21040355	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	128	cd00096	NULL
3077	2497915	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	82	pfam00129	4504377,NP_000401
3077	21040353	Disease	p.Ile105Thr	613609.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	106	pfam00129	NULL
3077	21040347	Disease	p.Gly93Arg	613609.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	70	pfam00129	NULL
3077	21040351	Disease	p.Gly93Arg	613609.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	25	cd05771	NULL
3077	21040351	Disease	p.Gly93Arg	613609.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	160	pfam00129	NULL
3077	21040349	Disease	p.Gly93Arg	613609.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	15	cd05771	NULL
3077	21040349	Disease	p.Gly93Arg	613609.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	160	pfam00129	NULL
3077	21040357	Disease	p.Gly93Arg	613609.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	NULL
3077	21040343	Disease	p.Gly93Arg	613609.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	70	pfam00129	NULL
3077	21040341	Disease	p.Gly93Arg	613609.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	70	pfam00129	NULL
3077	21040355	Disease	p.Gly93Arg	613609.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	69	cd05767	NULL
3077	21040355	Disease	p.Gly93Arg	613609.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	69	cd05770	NULL
3077	21040355	Disease	p.Gly93Arg	613609.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	114	cd05771	NULL
3077	21040355	Disease	p.Gly93Arg	613609.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	75	pfam07654	NULL
3077	21040355	Disease	p.Gly93Arg	613609.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	69	cd05766	NULL
3077	21040355	Disease	p.Gly93Arg	613609.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	67	smart00407	NULL
3077	21040355	Disease	p.Gly93Arg	613609.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	93	cd00098	NULL
3077	21040355	Disease	p.Gly93Arg	613609.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	73	cd07698	NULL
3077	21040355	Disease	p.Gly93Arg	613609.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	97	cd00096	NULL
3077	2497915	Disease	p.Gly93Arg	613609.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	70	pfam00129	4504377,NP_000401
3077	21040353	Disease	p.Gly93Arg	613609.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	94	pfam00129	NULL
3077	21040347	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	104	cd07698	NULL
3077	21040347	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	94	cd05766	NULL
3077	21040347	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	164	cd00096	NULL
3077	21040347	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	139	cd00098	NULL
3077	21040347	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	93	cd05770	NULL
3077	21040347	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	93	cd05767	NULL
3077	21040351	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	NULL
3077	21040349	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	NULL
3077	21040357	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	NULL
3077	21040343	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	NULL
3077	21040341	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	NULL
3077	21040355	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	NULL
3077	2497915	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	126	cd00096	4504377,NP_000401
3077	2497915	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	108	cd00098	4504377,NP_000401
3077	2497915	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	79	cd05767	4504377,NP_000401
3077	2497915	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	79	cd05770	4504377,NP_000401
3077	2497915	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	86	cd07698	4504377,NP_000401
3077	2497915	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	80	cd05766	4504377,NP_000401
3077	2497915	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	78	smart00407	4504377,NP_000401
3077	2497915	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	127	cd05771	4504377,NP_000401
3077	2497915	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	91	pfam07654	4504377,NP_000401
3077	21040353	Disease	p.Gln283Pro	613609.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613609	HEMOCHROMATOSIS	OMIM	No Domain	N/A	NULL
57539	48474987	Disease	p.Glu626Gly	613602.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613602	CRANIOECTODERMAL DYSPLASIA 2	OMIM	No Domain	N/A	55743161,NP_001006658
57539	56243599	Disease	p.Glu626Gly	613602.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613602	CRANIOECTODERMAL DYSPLASIA 2	OMIM	No Domain	N/A	NULL
57539	48474987	Disease	p.Ala875Thr	613602.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613602	CRANIOECTODERMAL DYSPLASIA 2	OMIM	No Domain	N/A	55743161,NP_001006658
57539	56243599	Disease	p.Ala875Thr	613602.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613602	CRANIOECTODERMAL DYSPLASIA 2	OMIM	No Domain	N/A	NULL
130557	212276483	Disease	p.Cys339Arg	613598.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613598	RETINITIS PIGMENTOSA 58	OMIM	No Domain	N/A	42476272,NP_653232
112817	197927274	Disease	p.Gly287Val	613597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	No Domain	N/A	NULL
112817	74750531	Disease	p.Gly287Val	613597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	379	cd00408	31543060,NP_612422
112817	74750531	Disease	p.Gly287Val	613597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	290	cd00950	31543060,NP_612422
112817	74750531	Disease	p.Gly287Val	613597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	260	cd00954	31543060,NP_612422
112817	74750531	Disease	p.Gly287Val	613597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	278	cd00952	31543060,NP_612422
112817	74750531	Disease	p.Gly287Val	613597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	263	pfam00701	31543060,NP_612422
112817	74750531	Disease	p.Gly287Val	613597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	258	cd00951	31543060,NP_612422
112817	74750531	Disease	p.Gly287Val	613597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	251	cd00953	31543060,NP_612422
112817	74750531	Disease	p.Gly287Val	613597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	319	COG0329	31543060,NP_612422
112817	197927274	Disease	p.Arg97Cys	613597.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	No Domain	N/A	NULL
112817	74750531	Disease	p.Arg97Cys	613597.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	71	cd00408	31543060,NP_612422
112817	74750531	Disease	p.Arg97Cys	613597.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	65	cd00950	31543060,NP_612422
112817	74750531	Disease	p.Arg97Cys	613597.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	64	cd00954	31543060,NP_612422
112817	74750531	Disease	p.Arg97Cys	613597.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	71	cd00952	31543060,NP_612422
112817	74750531	Disease	p.Arg97Cys	613597.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	65	pfam00701	31543060,NP_612422
112817	74750531	Disease	p.Arg97Cys	613597.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	64	cd00951	31543060,NP_612422
112817	74750531	Disease	p.Arg97Cys	613597.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	63	cd00953	31543060,NP_612422
112817	74750531	Disease	p.Arg97Cys	613597.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	88	COG0329	31543060,NP_612422
112817	197927274	Disease	p.Arg70Pro	613597.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	No Domain	N/A	NULL
112817	74750531	Disease	p.Arg70Pro	613597.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	44	cd00408	31543060,NP_612422
112817	74750531	Disease	p.Arg70Pro	613597.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	38	cd00950	31543060,NP_612422
112817	74750531	Disease	p.Arg70Pro	613597.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	37	cd00954	31543060,NP_612422
112817	74750531	Disease	p.Arg70Pro	613597.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	44	cd00952	31543060,NP_612422
112817	74750531	Disease	p.Arg70Pro	613597.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	38	pfam00701	31543060,NP_612422
112817	74750531	Disease	p.Arg70Pro	613597.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	36	cd00951	31543060,NP_612422
112817	74750531	Disease	p.Arg70Pro	613597.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	36	cd00953	31543060,NP_612422
112817	74750531	Disease	p.Arg70Pro	613597.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	58	COG0329	31543060,NP_612422
112817	197927274	Disease	p.Cys257Gly	613597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	No Domain	N/A	NULL
112817	74750531	Disease	p.Cys257Gly	613597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	326	cd00408	31543060,NP_612422
112817	74750531	Disease	p.Cys257Gly	613597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	245	cd00950	31543060,NP_612422
112817	74750531	Disease	p.Cys257Gly	613597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	228	cd00954	31543060,NP_612422
112817	74750531	Disease	p.Cys257Gly	613597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	236	cd00952	31543060,NP_612422
112817	74750531	Disease	p.Cys257Gly	613597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	230	pfam00701	31543060,NP_612422
112817	74750531	Disease	p.Cys257Gly	613597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	225	cd00951	31543060,NP_612422
112817	74750531	Disease	p.Cys257Gly	613597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	218	cd00953	31543060,NP_612422
112817	74750531	Disease	p.Cys257Gly	613597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613597	HYPEROXALURIA, PRIMARY, TYPE III	OMIM	276	COG0329	31543060,NP_612422
284403	308153671	Disease	p.Glu526Lys	613583.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613583	MICROCEPHALY, CORTICAL MALFORMATIONS, AND MENTAL RETARDATION	OMIM	228	cd00200	145580610,NP_775907
284403	308153671	Disease	p.Glu526Lys	613583.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613583	MICROCEPHALY, CORTICAL MALFORMATIONS, AND MENTAL RETARDATION	OMIM	641	COG2319	145580610,NP_775907
284403	145580608	Disease	p.Glu526Lys	613583.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613583	MICROCEPHALY, CORTICAL MALFORMATIONS, AND MENTAL RETARDATION	OMIM	No Domain	N/A	NULL
284403	308153671	Disease	p.Trp224Ser	613583.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613583	MICROCEPHALY, CORTICAL MALFORMATIONS, AND MENTAL RETARDATION	OMIM	No Domain	N/A	145580610,NP_775907
284403	145580608	Disease	p.Trp224Ser	613583.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613583	MICROCEPHALY, CORTICAL MALFORMATIONS, AND MENTAL RETARDATION	OMIM	No Domain	N/A	NULL
51057	111548654	Disease	p.Leu208Phe	613580.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613580	BARDET-BIEDL SYNDROME 12, MODIFIER OF	OMIM	303	pfam11768	NULL
51057	172047300	Disease	p.Leu208Phe	613580.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613580	BARDET-BIEDL SYNDROME 12, MODIFIER OF	OMIM	137	pfam11768	111548652,NP_056994
51057	111548654	Disease	p.Arg55Lys	613580.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613580	MECKEL SYNDROME, TYPE 6, MODIFIER OF	OMIM	143	pfam11768	NULL
51057	172047300	Disease	p.Arg55Lys	613580.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613580	MECKEL SYNDROME, TYPE 6, MODIFIER OF	OMIM	No Domain	N/A	111548652,NP_056994
57465	89886453	Disease	p.Asp147His	613577.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613577	MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL	OMIM	507	smart00164	NULL
57465	89886453	Disease	p.Asp147His	613577.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613577	MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL	OMIM	225	pfam00566	NULL
57465	89886453	Disease	p.Ala509Val	613577.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613577	MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL	OMIM	387	pfam07534	NULL
57465	89886453	Disease	p.Ala509Val	613577.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613577	MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL	OMIM	195	COG5142	NULL
57465	89886453	Disease	p.Ala509Val	613577.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613577	MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL	OMIM	291	smart00584	NULL
57465	89886453	Disease	p.Phe251Leu	613577.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613577	MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL	OMIM	419	pfam00566	NULL
63929	74761652	Disease	p.Gly453Cys	613553.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613553	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1	OMIM	293	cd01087	11559925,NP_071381
63929	74761652	Disease	p.Gly453Cys	613553.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613553	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1	OMIM	229	cd01091	11559925,NP_071381
63929	74761652	Disease	p.Gly453Cys	613553.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613553	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1	OMIM	392	cd01086	11559925,NP_071381
63929	74761652	Disease	p.Gly453Cys	613553.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613553	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1	OMIM	220	cd01092	11559925,NP_071381
63929	74761652	Disease	p.Gly453Cys	613553.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613553	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1	OMIM	391	cd01066	11559925,NP_071381
63929	74761652	Disease	p.Gly453Cys	613553.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613553	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1	OMIM	529	COG0006	11559925,NP_071381
63929	74761652	Disease	p.Gly453Cys	613553.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613553	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1	OMIM	260	cd01085	11559925,NP_071381
63929	74761652	Disease	p.Gly453Cys	613553.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613553	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1	OMIM	400	COG0024	11559925,NP_071381
63929	74761652	Disease	p.Gly453Cys	613553.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613553	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1	OMIM	872	pfam00557	11559925,NP_071381
22995	218512101	Disease	p.Gln265Pro	613529.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613529	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 4	OMIM	No Domain	N/A	110347568,NP_055800
22995	303304991	Disease	p.Gln265Pro	613529.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613529	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 4	OMIM	No Domain	N/A	NULL
611	129203	Disease	p.Gly79Arg	613522.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613522	TRITANOPIA	OMIM	27	pfam00001	4502387,NP_001699
611	129203	Disease	p.Ser214Pro	613522.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613522	TRITANOPIA	OMIM	195	pfam00001	4502387,NP_001699
611	129203	Disease	p.Pro264Ser	613522.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613522	TRITANOPIA	OMIM	381	pfam00001	4502387,NP_001699
7389	2507533	Disease	p.Gly281Val	613521.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	333	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Gly281Val	613521.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	321	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Gly281Val	613521.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	319	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Gly281Val	613521.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	328	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Gly281Val	613521.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	271	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Gly281Val	613521.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	473	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Gly281Val	613521.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	360	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Gly281Glu	613521.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC||PORPHYRIA CUTANEA TARDA	OMIM	333	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Gly281Glu	613521.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC||PORPHYRIA CUTANEA TARDA	OMIM	321	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Gly281Glu	613521.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC||PORPHYRIA CUTANEA TARDA	OMIM	319	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Gly281Glu	613521.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC||PORPHYRIA CUTANEA TARDA	OMIM	328	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Gly281Glu	613521.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC||PORPHYRIA CUTANEA TARDA	OMIM	271	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Gly281Glu	613521.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC||PORPHYRIA CUTANEA TARDA	OMIM	473	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Gly281Glu	613521.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC||PORPHYRIA CUTANEA TARDA	OMIM	360	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	613521.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	179	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	613521.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	192	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	613521.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	181	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	613521.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	171	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	613521.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	153_G	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	613521.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	264	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	613521.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	226	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Arg292Gly	613521.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	347	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Arg292Gly	613521.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	349	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Arg292Gly	613521.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	334	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Arg292Gly	613521.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	365	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Arg292Gly	613521.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	285	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Arg292Gly	613521.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	523	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Arg292Gly	613521.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	371	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Pro62Leu	613521.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	38	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Pro62Leu	613521.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	74	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Pro62Leu	613521.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	63	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Pro62Leu	613521.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	45	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Pro62Leu	613521.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	44	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Pro62Leu	613521.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	75	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Pro62Leu	613521.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	49_G	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Tyr311Cys	613521.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	369	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Tyr311Cys	613521.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	374	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Tyr311Cys	613521.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	373	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Tyr311Cys	613521.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	388	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Tyr311Cys	613521.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	306	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Tyr311Cys	613521.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	582	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Tyr311Cys	613521.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA, HEPATOERYTHROPOIETIC	OMIM	392	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Glu314Glu	613521.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	372	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Glu314Glu	613521.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	377	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Glu314Glu	613521.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	376	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Glu314Glu	613521.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	391	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Glu314Glu	613521.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	310	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Glu314Glu	613521.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	590	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Glu314Glu	613521.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	395	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Met165Arg	613521.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	177	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Met165Arg	613521.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	190	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Met165Arg	613521.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	179	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Met165Arg	613521.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	169	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Met165Arg	613521.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	153_G	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Met165Arg	613521.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	262	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Met165Arg	613521.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	224	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Leu195Phe	613521.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	218	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Leu195Phe	613521.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	220	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Leu195Phe	613521.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	211	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Leu195Phe	613521.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	210	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Leu195Phe	613521.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	187	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Leu195Phe	613521.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	316	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Leu195Phe	613521.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	269	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Asn304Lys	613521.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	361	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Asn304Lys	613521.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	365	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Asn304Lys	613521.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	365	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Asn304Lys	613521.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	378	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Asn304Lys	613521.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	298	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Asn304Lys	613521.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	567	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Asn304Lys	613521.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	383	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Arg332His	613521.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	397	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Arg332His	613521.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	405	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Arg332His	613521.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	403	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Arg332His	613521.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	424	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Arg332His	613521.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	327	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Arg332His	613521.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	635	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Arg332His	613521.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613521	PORPHYRIA CUTANEA TARDA	OMIM	414	cd03308	71051616,NP_000365
10648	6831580	Disease	p.Leu179Pro	613497.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613497	WOLMAN DISEASE||CHOLESTERYL ESTER STORAGE DISEASE	OMIM	No Domain	N/A	5729907,NP_006543
427	239938949	Disease	p.Thr222Lys	613468.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	99	cd01903	189011548,NP_808592
427	239938949	Disease	p.Thr222Lys	613468.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	107	cd01901	189011548,NP_808592
427	239938949	Disease	p.Thr222Lys	613468.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	107	cd01935	189011548,NP_808592
427	239938949	Disease	p.Thr222Lys	613468.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	95	pfam02275	189011548,NP_808592
427	189011550	Disease	p.Thr222Lys	613468.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	113	cd01901	NULL
427	189011550	Disease	p.Thr222Lys	613468.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	113	cd01935	NULL
427	189011550	Disease	p.Thr222Lys	613468.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	102	pfam02275	NULL
427	189011550	Disease	p.Thr222Lys	613468.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	105	cd01903	NULL
427	189011546	Disease	p.Thr222Lys	613468.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	91	cd01935	NULL
427	189011546	Disease	p.Thr222Lys	613468.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	83	cd01901	NULL
427	189011546	Disease	p.Thr222Lys	613468.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	76	pfam02275	NULL
427	189011546	Disease	p.Thr222Lys	613468.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	83	cd01903	NULL
427	239938949	Disease	p.Glu138Val	613468.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	5	cd01903	189011548,NP_808592
427	189011550	Disease	p.Glu138Val	613468.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	2	cd01901	NULL
427	189011550	Disease	p.Glu138Val	613468.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	2	cd01935	NULL
427	189011550	Disease	p.Glu138Val	613468.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	2	pfam02275	NULL
427	189011550	Disease	p.Glu138Val	613468.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	20	cd01903	NULL
427	189011546	Disease	p.Glu138Val	613468.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	No Domain	N/A	NULL
427	239938949	Disease	p.Tyr36Cys	613468.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	No Domain	N/A	189011548,NP_808592
427	189011550	Disease	p.Tyr36Cys	613468.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	No Domain	N/A	NULL
427	189011546	Disease	p.Tyr36Cys	613468.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	No Domain	N/A	NULL
427	239938949	Disease	p.Asn320Asp	613468.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	199	cd01903	189011548,NP_808592
427	239938949	Disease	p.Asn320Asp	613468.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	487	cd01901	189011548,NP_808592
427	239938949	Disease	p.Asn320Asp	613468.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	237	cd01935	189011548,NP_808592
427	239938949	Disease	p.Asn320Asp	613468.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	224	pfam02275	189011548,NP_808592
427	189011550	Disease	p.Asn320Asp	613468.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	493	cd01901	NULL
427	189011550	Disease	p.Asn320Asp	613468.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	243	cd01935	NULL
427	189011550	Disease	p.Asn320Asp	613468.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	237	pfam02275	NULL
427	189011550	Disease	p.Asn320Asp	613468.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	205	cd01903	NULL
427	189011546	Disease	p.Asn320Asp	613468.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	220	cd01935	NULL
427	189011546	Disease	p.Asn320Asp	613468.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	469	cd01901	NULL
427	189011546	Disease	p.Asn320Asp	613468.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	200	pfam02275	NULL
427	189011546	Disease	p.Asn320Asp	613468.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	182	cd01903	NULL
427	239938949	Disease	p.Leu182Val	613468.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	59	cd01903	189011548,NP_808592
427	239938949	Disease	p.Leu182Val	613468.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	43	cd01901	189011548,NP_808592
427	239938949	Disease	p.Leu182Val	613468.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	43	cd01935	189011548,NP_808592
427	239938949	Disease	p.Leu182Val	613468.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	40	pfam02275	189011548,NP_808592
427	189011550	Disease	p.Leu182Val	613468.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	65	cd01901	NULL
427	189011550	Disease	p.Leu182Val	613468.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	49	cd01935	NULL
427	189011550	Disease	p.Leu182Val	613468.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	46	pfam02275	NULL
427	189011550	Disease	p.Leu182Val	613468.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	65	cd01903	NULL
427	189011546	Disease	p.Leu182Val	613468.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	27	cd01935	NULL
427	189011546	Disease	p.Leu182Val	613468.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	27	cd01901	NULL
427	189011546	Disease	p.Leu182Val	613468.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	24	pfam02275	NULL
427	189011546	Disease	p.Leu182Val	613468.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613468	FARBER LIPOGRANULOMATOSIS	OMIM	43	cd01903	NULL
6948	224471876	Disease	p.Pro259Arg	613441.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613441	TCN2 POLYMORPHISM	OMIM	256	pfam01122	21071010,NP_000346
6948	296080704	Disease	p.Pro259Arg	613441.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613441	TCN2 POLYMORPHISM	OMIM	283	pfam01122	NULL
388939	182702267	Disease	p.Ile201Phe	613425.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613425	RETINITIS PIGMENTOSA 54	OMIM	No Domain	N/A	71274152,NP_001025054
63894	300934878	Disease	p.Met1Arg	613401.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613401	ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2	OMIM	No Domain	N/A	NULL
63894	41016926	Disease	p.Met1Arg	613401.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613401	ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2	OMIM	No Domain	N/A	300934881,NP_001180246|20127607,NP_071350|300934876,NP_001180244|300934874,NP_001180243
63894	41016926	Disease	p.Met1Arg	613401.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613401	ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2	OMIM	No Domain	N/A	300934881,NP_001180246|20127607,NP_071350|300934876,NP_001180244|300934874,NP_001180243
63894	41016926	Disease	p.Met1Arg	613401.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613401	ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2	OMIM	No Domain	N/A	300934881,NP_001180246|20127607,NP_071350|300934876,NP_001180244|300934874,NP_001180243
63894	41016926	Disease	p.Met1Arg	613401.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613401	ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2	OMIM	No Domain	N/A	300934881,NP_001180246|20127607,NP_071350|300934876,NP_001180244|300934874,NP_001180243
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	266	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	275	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	305	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	590	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	259	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	318	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	300	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	237	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	428	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	376	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	334	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	266	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	275	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	305	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	590	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	259	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	318	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	300	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	237	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	428	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	376	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	334	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	266	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	275	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	305	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	590	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	259	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	318	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	300	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	237	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	428	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	376	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	613381.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	334	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	69	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	87	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	101	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	142	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	77_G	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	101	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	104	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	56_G	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	106	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	169	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	108	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	69	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	87	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	101	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	142	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	77_G	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	101	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	104	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	56_G	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	106	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	169	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	108	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	69	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	87	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	101	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	142	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	77_G	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	101	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	104	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	56_G	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	106	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	169	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	613381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	108	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	35	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	53	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	67	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	48	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	49	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	73	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	52	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	28	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	49	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	129	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	74	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	35	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	53	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	67	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	48	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	49	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	73	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	52	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	28	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	49	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	129	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	74	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	35	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	53	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	67	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	48	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	49	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	73	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	52	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	28	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	49	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	129	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	613381.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	74	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	225	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	237	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	262	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	511	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	230	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	277	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	254	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	208	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	322	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	331	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	291	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	225	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	237	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	262	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	511	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	230	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	277	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	254	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	208	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	322	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	331	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	291	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	225	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	237	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	262	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	511	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	230	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	277	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	254	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	208	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	322	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	331	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	613381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	291	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	63	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	81	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	97	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	120	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	73_G	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	96_G	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	97	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	52_G	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	100	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	163	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	100	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	63	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	81	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	97	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	120	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	73_G	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	96_G	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	97	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	52_G	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	100	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	163	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	100	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	63	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	81	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	97	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	120	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	73_G	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	96_G	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	97	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	52_G	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	100	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	163	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	613381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	100	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	68	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	86	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	100	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	141	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	77_G	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	100	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	103	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	56_G	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	105	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	168	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	107	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	68	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	86	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	100	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	141	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	77_G	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	100	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	103	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	56_G	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	105	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	168	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	107	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	68	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	86	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	100	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	141	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	77_G	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	100	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	103	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	56_G	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	105	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	168	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	613381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	107	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys384Glu	613381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	352	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys384Glu	613381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	391	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys384Glu	613381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	524	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys384Glu	613381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	352	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys384Glu	613381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	391	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys384Glu	613381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	524	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys384Glu	613381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	352	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys384Glu	613381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	391	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys384Glu	613381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	524	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu539Ser	613381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	125	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu539Ser	613381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	121	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu539Ser	613381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	229	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu539Ser	613381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	154	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu539Ser	613381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	133	cd04600	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu539Ser	613381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	125	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu539Ser	613381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	121	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu539Ser	613381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	229	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu539Ser	613381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	154	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu539Ser	613381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	133	cd04600	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu539Ser	613381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	125	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu539Ser	613381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	121	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu539Ser	613381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	229	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu539Ser	613381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	154	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu539Ser	613381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	133	cd04600	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	211	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	217	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	233	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	481	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	218	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	252	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	240	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	196	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	293	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	318	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	277	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	211	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	217	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	233	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	481	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	218	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	252	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	240	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	196	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	293	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	318	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	277	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	211	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	217	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	233	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	481	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	218	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	252	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	240	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	196	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	293	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	318	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	613381.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	277	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	25	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	25	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	38	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	29	smart00116	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	27	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	67	pfam00571	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	26	cd04600	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	25	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	25	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	38	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	29	smart00116	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	27	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	67	pfam00571	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	26	cd04600	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	25	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	25	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	38	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	29	smart00116	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	27	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	67	pfam00571	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	613381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	26	cd04600	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	92	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	112	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	124	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	240	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	104	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	124	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	127	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	83	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	137	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	193	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	131	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	92	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	112	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	124	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	240	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	104	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	124	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	127	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	83	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	137	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	193	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	131	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	92	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	112	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	124	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	240	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	104	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	124	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	127	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	83	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	137	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	193	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	613381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE	OMIM	131	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	3	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	3	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	3	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	2	smart00116	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	4	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	25	pfam00571	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	562	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	3	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	3	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	3	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	2	smart00116	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	4	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	25	pfam00571	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	562	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	3	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	3	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	3	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	2	smart00116	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	4	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	25	pfam00571	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	613381.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	562	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	55	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	47	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	88	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	74	smart00116	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	50	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	119	pfam00571	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	49	cd04600	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	55	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	47	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	88	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	74	smart00116	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	50	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	119	pfam00571	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	49	cd04600	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	55	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	47	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	88	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	74	smart00116	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	50	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	119	pfam00571	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	613381.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	OMIM	49	cd04600	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	323	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	333	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	353	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	651	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	308_G	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	384	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	348	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	290	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	487	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	468	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	385	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	323	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	333	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	353	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	651	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	308_G	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	384	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	348	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	290	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	487	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	468	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	385	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	323	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	333	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	353	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	651	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	308_G	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	384	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	348	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	290	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	487	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	468	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	613381.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	385	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	115	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	136	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	147	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	286	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	135	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	152	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	153	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	117	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	174	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	219_G	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	155	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	115	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	136	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	147	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	286	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	135	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	152	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	153	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	117	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	174	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	219_G	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	155	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	115	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	136	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	147	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	286	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	135	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	152	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	153	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	117	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	174	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	219_G	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	613381.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613381	HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE	OMIM	155	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
113278	82654931	Disease	p.Arg132Trp	613350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613350	BROWN-VIALETTO-VAN LAERE SYNDROME	OMIM	No Domain	N/A	156564359,NP_212134
113278	82654931	Disease	p.Phe224Leu	613350.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613350	BROWN-VIALETTO-VAN LAERE SYNDROME	OMIM	No Domain	N/A	156564359,NP_212134
113278	82654931	Disease	p.Glu36Lys	613350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613350	BROWN-VIALETTO-VAN LAERE SYNDROME, MILD	OMIM	No Domain	N/A	156564359,NP_212134
113278	82654931	Disease	p.Val413Ala	613350.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613350	BROWN-VIALETTO-VAN LAERE SYNDROME, MILD	OMIM	No Domain	N/A	156564359,NP_212134
113278	82654931	Disease	p.Pro28Thr	613350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613350	BROWN-VIALETTO-VAN LAERE SYNDROME	OMIM	No Domain	N/A	156564359,NP_212134
4942	129018	Disease	p.Met1Ile	613349.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	No Domain	N/A	4557809,NP_000265
4942	284507298	Disease	p.Met1Ile	613349.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	No Domain	N/A	NULL
4942	129018	Disease	p.Tyr55His	613349.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	21	COG4992	4557809,NP_000265
4942	129018	Disease	p.Tyr55His	613349.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	23	COG0161	4557809,NP_000265
4942	129018	Disease	p.Tyr55His	613349.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	29	COG0001	4557809,NP_000265
4942	129018	Disease	p.Tyr55His	613349.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	13	cd00610	4557809,NP_000265
4942	129018	Disease	p.Tyr55His	613349.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	35	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Tyr55His	613349.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	163	pfam00202	NULL
4942	284507298	Disease	p.Tyr55His	613349.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	231	cd00610	NULL
4942	284507298	Disease	p.Tyr55His	613349.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	182	COG0161	NULL
4942	284507298	Disease	p.Tyr55His	613349.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	248	COG0160	NULL
4942	284507298	Disease	p.Tyr55His	613349.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	188	COG4992	NULL
4942	284507298	Disease	p.Tyr55His	613349.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	208	COG0001	NULL
4942	129018	Disease	p.Cys93Phe	613349.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	74	COG4992	4557809,NP_000265
4942	129018	Disease	p.Cys93Phe	613349.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	70	COG0161	4557809,NP_000265
4942	129018	Disease	p.Cys93Phe	613349.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	71	COG0001	4557809,NP_000265
4942	129018	Disease	p.Cys93Phe	613349.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	34	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Cys93Phe	613349.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	73	cd00610	4557809,NP_000265
4942	129018	Disease	p.Cys93Phe	613349.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	113	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Cys93Phe	613349.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	237	pfam00202	NULL
4942	284507298	Disease	p.Cys93Phe	613349.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	312	cd00610	NULL
4942	284507298	Disease	p.Cys93Phe	613349.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	252	COG0161	NULL
4942	284507298	Disease	p.Cys93Phe	613349.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	314	COG0160	NULL
4942	284507298	Disease	p.Cys93Phe	613349.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	241	COG4992	NULL
4942	284507298	Disease	p.Cys93Phe	613349.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	248	COG0001	NULL
4942	129018	Disease	p.Arg154Leu	613349.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	145	COG4992	4557809,NP_000265
4942	129018	Disease	p.Arg154Leu	613349.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	48	cd01494	4557809,NP_000265
4942	129018	Disease	p.Arg154Leu	613349.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	142	COG0161	4557809,NP_000265
4942	129018	Disease	p.Arg154Leu	613349.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	137	COG0001	4557809,NP_000265
4942	129018	Disease	p.Arg154Leu	613349.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	103	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Arg154Leu	613349.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	158	cd00610	4557809,NP_000265
4942	129018	Disease	p.Arg154Leu	613349.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	190	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Arg154Leu	613349.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	305	pfam00202	NULL
4942	284507298	Disease	p.Arg154Leu	613349.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	379	cd00610	NULL
4942	284507298	Disease	p.Arg154Leu	613349.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	329	COG0161	NULL
4942	284507298	Disease	p.Arg154Leu	613349.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	379	COG0160	NULL
4942	284507298	Disease	p.Arg154Leu	613349.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	304	COG4992	NULL
4942	284507298	Disease	p.Arg154Leu	613349.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	311	COG0001	NULL
4942	129018	Disease	p.Arg180Thr	613349.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	175	COG4992	4557809,NP_000265
4942	129018	Disease	p.Arg180Thr	613349.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	92	cd01494	4557809,NP_000265
4942	129018	Disease	p.Arg180Thr	613349.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	169	COG0161	4557809,NP_000265
4942	129018	Disease	p.Arg180Thr	613349.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	155	COG0001	4557809,NP_000265
4942	129018	Disease	p.Arg180Thr	613349.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	149	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Arg180Thr	613349.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	204	cd00610	4557809,NP_000265
4942	129018	Disease	p.Arg180Thr	613349.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	235	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Arg180Thr	613349.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	340	pfam00202	NULL
4942	284507298	Disease	p.Arg180Thr	613349.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	426	cd00610	NULL
4942	284507298	Disease	p.Arg180Thr	613349.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	355	COG0161	NULL
4942	284507298	Disease	p.Arg180Thr	613349.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	405	COG0160	NULL
4942	284507298	Disease	p.Arg180Thr	613349.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	335	COG4992	NULL
4942	284507298	Disease	p.Arg180Thr	613349.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	349	COG0001	NULL
4942	129018	Disease	p.Ala270Pro	613349.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	280	COG4992	4557809,NP_000265
4942	129018	Disease	p.Ala270Pro	613349.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	209	cd01494	4557809,NP_000265
4942	129018	Disease	p.Ala270Pro	613349.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	292	COG0161	4557809,NP_000265
4942	129018	Disease	p.Ala270Pro	613349.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	288_G	COG0001	4557809,NP_000265
4942	129018	Disease	p.Ala270Pro	613349.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	277	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Ala270Pro	613349.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	353	cd00610	4557809,NP_000265
4942	129018	Disease	p.Ala270Pro	613349.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	353	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Ala270Pro	613349.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	594	cd00610	NULL
4942	284507298	Disease	p.Ala270Pro	613349.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	475	COG0161	NULL
4942	284507298	Disease	p.Ala270Pro	613349.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	523	COG0160	NULL
4942	284507298	Disease	p.Ala270Pro	613349.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	477	COG4992	NULL
4942	284507298	Disease	p.Ala270Pro	613349.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	487	COG0001	NULL
4942	129018	Disease	p.Arg271Lys	613349.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	281	COG4992	4557809,NP_000265
4942	129018	Disease	p.Arg271Lys	613349.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	210	cd01494	4557809,NP_000265
4942	129018	Disease	p.Arg271Lys	613349.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	293	COG0161	4557809,NP_000265
4942	129018	Disease	p.Arg271Lys	613349.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	289	COG0001	4557809,NP_000265
4942	129018	Disease	p.Arg271Lys	613349.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	278	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Arg271Lys	613349.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	354	cd00610	4557809,NP_000265
4942	129018	Disease	p.Arg271Lys	613349.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	354	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Arg271Lys	613349.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	595	cd00610	NULL
4942	284507298	Disease	p.Arg271Lys	613349.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	476	COG0161	NULL
4942	284507298	Disease	p.Arg271Lys	613349.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	526	COG0160	NULL
4942	284507298	Disease	p.Arg271Lys	613349.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	478	COG4992	NULL
4942	284507298	Disease	p.Arg271Lys	613349.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	499	COG0001	NULL
4942	129018	Disease	p.Leu402Pro	613349.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	471	COG4992	4557809,NP_000265
4942	129018	Disease	p.Leu402Pro	613349.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	468	COG0161	4557809,NP_000265
4942	129018	Disease	p.Leu402Pro	613349.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	481	COG0001	4557809,NP_000265
4942	129018	Disease	p.Leu402Pro	613349.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	573	cd00610	4557809,NP_000265
4942	129018	Disease	p.Leu402Pro	613349.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	515	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Leu402Pro	613349.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	No Domain	N/A	NULL
4942	129018	Disease	p.Pro417Leu	613349.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	488	COG4992	4557809,NP_000265
4942	129018	Disease	p.Pro417Leu	613349.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	491	COG0161	4557809,NP_000265
4942	129018	Disease	p.Pro417Leu	613349.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	505_G	COG0001	4557809,NP_000265
4942	129018	Disease	p.Pro417Leu	613349.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	603	cd00610	4557809,NP_000265
4942	129018	Disease	p.Pro417Leu	613349.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	534	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Pro417Leu	613349.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	No Domain	N/A	NULL
4942	129018	Disease	p.Leu437Phe	613349.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	OAT POLYMORPHISM	OMIM	508	COG4992	4557809,NP_000265
4942	284507298	Disease	p.Leu437Phe	613349.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	OAT POLYMORPHISM	OMIM	No Domain	N/A	NULL
4942	129018	Disease	p.Gly375Ala	613349.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	397	COG4992	4557809,NP_000265
4942	129018	Disease	p.Gly375Ala	613349.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	430	COG0161	4557809,NP_000265
4942	129018	Disease	p.Gly375Ala	613349.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	419	COG0001	4557809,NP_000265
4942	129018	Disease	p.Gly375Ala	613349.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	403	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Gly375Ala	613349.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	499	cd00610	4557809,NP_000265
4942	129018	Disease	p.Gly375Ala	613349.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	476	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Gly375Ala	613349.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	No Domain	N/A	NULL
79742	193804856	Disease	p.Gly375Ala	613349.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	MOVED TO 613349.0023	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Gly375Ala	613349.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	MOVED TO 613349.0023	OMIM	No Domain	N/A	193804854,NP_789789
4942	129018	Disease	p.Tyr245Cys	613349.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	255	COG4992	4557809,NP_000265
4942	129018	Disease	p.Tyr245Cys	613349.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	184	cd01494	4557809,NP_000265
4942	129018	Disease	p.Tyr245Cys	613349.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	267	COG0161	4557809,NP_000265
4942	129018	Disease	p.Tyr245Cys	613349.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	264	COG0001	4557809,NP_000265
4942	129018	Disease	p.Tyr245Cys	613349.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	252	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Tyr245Cys	613349.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	328	cd00610	4557809,NP_000265
4942	129018	Disease	p.Tyr245Cys	613349.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	328	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Tyr245Cys	613349.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	411	pfam00202	NULL
4942	284507298	Disease	p.Tyr245Cys	613349.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	507	cd00610	NULL
4942	284507298	Disease	p.Tyr245Cys	613349.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	438	COG0161	NULL
4942	284507298	Disease	p.Tyr245Cys	613349.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	485	COG0160	NULL
4942	284507298	Disease	p.Tyr245Cys	613349.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	405	COG4992	NULL
4942	284507298	Disease	p.Tyr245Cys	613349.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	426	COG0001	NULL
4942	129018	Disease	p.Asn378Asn	613349.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	OAT POLYMORPHISM	OMIM	400	COG4992	4557809,NP_000265
4942	129018	Disease	p.Asn378Asn	613349.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	OAT POLYMORPHISM	OMIM	433	COG0161	4557809,NP_000265
4942	129018	Disease	p.Asn378Asn	613349.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	OAT POLYMORPHISM	OMIM	422	COG0001	4557809,NP_000265
4942	129018	Disease	p.Asn378Asn	613349.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	OAT POLYMORPHISM	OMIM	406	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Asn378Asn	613349.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	OAT POLYMORPHISM	OMIM	502	cd00610	4557809,NP_000265
4942	129018	Disease	p.Asn378Asn	613349.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	OAT POLYMORPHISM	OMIM	479	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Asn378Asn	613349.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	OAT POLYMORPHISM	OMIM	No Domain	N/A	NULL
4942	129018	Disease	p.Val332Met	613349.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA	OMIM	350	COG4992	4557809,NP_000265
4942	129018	Disease	p.Val332Met	613349.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA	OMIM	378	COG0161	4557809,NP_000265
4942	129018	Disease	p.Val332Met	613349.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA	OMIM	370	COG0001	4557809,NP_000265
4942	129018	Disease	p.Val332Met	613349.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA	OMIM	354	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Val332Met	613349.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA	OMIM	440	cd00610	4557809,NP_000265
4942	129018	Disease	p.Val332Met	613349.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA	OMIM	422	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Val332Met	613349.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA	OMIM	No Domain	N/A	NULL
4942	129018	Disease	p.Asn54Lys	613349.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	20	COG4992	4557809,NP_000265
4942	129018	Disease	p.Asn54Lys	613349.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	22	COG0161	4557809,NP_000265
4942	129018	Disease	p.Asn54Lys	613349.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	28	COG0001	4557809,NP_000265
4942	129018	Disease	p.Asn54Lys	613349.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	12	cd00610	4557809,NP_000265
4942	129018	Disease	p.Asn54Lys	613349.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	34	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Asn54Lys	613349.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	162	pfam00202	NULL
4942	284507298	Disease	p.Asn54Lys	613349.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	216	cd00610	NULL
4942	284507298	Disease	p.Asn54Lys	613349.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	181	COG0161	NULL
4942	284507298	Disease	p.Asn54Lys	613349.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	247	COG0160	NULL
4942	284507298	Disease	p.Asn54Lys	613349.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	187	COG4992	NULL
4942	284507298	Disease	p.Asn54Lys	613349.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	207	COG0001	NULL
4942	129018	Disease	p.His319Tyr	613349.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	336	COG4992	4557809,NP_000265
4942	129018	Disease	p.His319Tyr	613349.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	365	COG0161	4557809,NP_000265
4942	129018	Disease	p.His319Tyr	613349.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	357	COG0001	4557809,NP_000265
4942	129018	Disease	p.His319Tyr	613349.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	341	pfam00202	4557809,NP_000265
4942	129018	Disease	p.His319Tyr	613349.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	427	cd00610	4557809,NP_000265
4942	129018	Disease	p.His319Tyr	613349.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	406	COG0160	4557809,NP_000265
4942	284507298	Disease	p.His319Tyr	613349.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	No Domain	N/A	NULL
79742	193804856	Disease	p.His319Tyr	613349.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	MOVED TO 613349.0031	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.His319Tyr	613349.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	MOVED TO 613349.0031	OMIM	No Domain	N/A	193804854,NP_789789
4942	129018	Disease	p.Arg184Thr	613349.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	179	COG4992	4557809,NP_000265
4942	129018	Disease	p.Arg184Thr	613349.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	110	cd01494	4557809,NP_000265
4942	129018	Disease	p.Arg184Thr	613349.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	173	COG0161	4557809,NP_000265
4942	129018	Disease	p.Arg184Thr	613349.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	159	COG0001	4557809,NP_000265
4942	129018	Disease	p.Arg184Thr	613349.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	153	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Arg184Thr	613349.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	208	cd00610	4557809,NP_000265
4942	129018	Disease	p.Arg184Thr	613349.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	239	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Arg184Thr	613349.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	344	pfam00202	NULL
4942	284507298	Disease	p.Arg184Thr	613349.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	430	cd00610	NULL
4942	284507298	Disease	p.Arg184Thr	613349.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	368	COG0161	NULL
4942	284507298	Disease	p.Arg184Thr	613349.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	409	COG0160	NULL
4942	284507298	Disease	p.Arg184Thr	613349.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	340	COG4992	NULL
4942	284507298	Disease	p.Arg184Thr	613349.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	360	COG0001	NULL
4942	129018	Disease	p.Pro241Leu	613349.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	251	COG4992	4557809,NP_000265
4942	129018	Disease	p.Pro241Leu	613349.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	180	cd01494	4557809,NP_000265
4942	129018	Disease	p.Pro241Leu	613349.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	263	COG0161	4557809,NP_000265
4942	129018	Disease	p.Pro241Leu	613349.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	260	COG0001	4557809,NP_000265
4942	129018	Disease	p.Pro241Leu	613349.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	248	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Pro241Leu	613349.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	324	cd00610	4557809,NP_000265
4942	129018	Disease	p.Pro241Leu	613349.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	324	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Pro241Leu	613349.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	407	pfam00202	NULL
4942	284507298	Disease	p.Pro241Leu	613349.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	503	cd00610	NULL
4942	284507298	Disease	p.Pro241Leu	613349.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	434	COG0161	NULL
4942	284507298	Disease	p.Pro241Leu	613349.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	480	COG0160	NULL
4942	284507298	Disease	p.Pro241Leu	613349.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	401	COG4992	NULL
4942	284507298	Disease	p.Pro241Leu	613349.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	422_G	COG0001	NULL
4942	129018	Disease	p.Arg250Pro	613349.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	260	COG4992	4557809,NP_000265
4942	129018	Disease	p.Arg250Pro	613349.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	189	cd01494	4557809,NP_000265
4942	129018	Disease	p.Arg250Pro	613349.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	272	COG0161	4557809,NP_000265
4942	129018	Disease	p.Arg250Pro	613349.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	269	COG0001	4557809,NP_000265
4942	129018	Disease	p.Arg250Pro	613349.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	257	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Arg250Pro	613349.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	333	cd00610	4557809,NP_000265
4942	129018	Disease	p.Arg250Pro	613349.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	333	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Arg250Pro	613349.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	559	cd00610	NULL
4942	284507298	Disease	p.Arg250Pro	613349.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	451	COG0161	NULL
4942	284507298	Disease	p.Arg250Pro	613349.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	498	COG0160	NULL
4942	284507298	Disease	p.Arg250Pro	613349.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	436	COG4992	NULL
4942	284507298	Disease	p.Arg250Pro	613349.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	464	COG0001	NULL
4942	129018	Disease	p.Gly353Asp	613349.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	372	COG4992	4557809,NP_000265
4942	129018	Disease	p.Gly353Asp	613349.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	400	COG0161	4557809,NP_000265
4942	129018	Disease	p.Gly353Asp	613349.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	394	COG0001	4557809,NP_000265
4942	129018	Disease	p.Gly353Asp	613349.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	375	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Gly353Asp	613349.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	469	cd00610	4557809,NP_000265
4942	129018	Disease	p.Gly353Asp	613349.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	451	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Gly353Asp	613349.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	No Domain	N/A	NULL
4942	129018	Disease	p.Cys394Arg	613349.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	442	COG4992	4557809,NP_000265
4942	129018	Disease	p.Cys394Arg	613349.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	460	COG0161	4557809,NP_000265
4942	129018	Disease	p.Cys394Arg	613349.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	471	COG0001	4557809,NP_000265
4942	129018	Disease	p.Cys394Arg	613349.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	565	cd00610	4557809,NP_000265
4942	129018	Disease	p.Cys394Arg	613349.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	507	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Cys394Arg	613349.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	No Domain	N/A	NULL
4942	129018	Disease	p.Ala226Val	613349.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA	OMIM	236	COG4992	4557809,NP_000265
4942	129018	Disease	p.Ala226Val	613349.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA	OMIM	165	cd01494	4557809,NP_000265
4942	129018	Disease	p.Ala226Val	613349.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA	OMIM	247	COG0161	4557809,NP_000265
4942	129018	Disease	p.Ala226Val	613349.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA	OMIM	243	COG0001	4557809,NP_000265
4942	129018	Disease	p.Ala226Val	613349.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA	OMIM	232	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Ala226Val	613349.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA	OMIM	307	cd00610	4557809,NP_000265
4942	129018	Disease	p.Ala226Val	613349.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA	OMIM	309	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Ala226Val	613349.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA	OMIM	387	pfam00202	NULL
4942	284507298	Disease	p.Ala226Val	613349.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA	OMIM	480	cd00610	NULL
4942	284507298	Disease	p.Ala226Val	613349.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA	OMIM	414	COG0161	NULL
4942	284507298	Disease	p.Ala226Val	613349.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA	OMIM	462	COG0160	NULL
4942	284507298	Disease	p.Ala226Val	613349.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA	OMIM	383	COG4992	NULL
4942	284507298	Disease	p.Ala226Val	613349.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA	OMIM	405	COG0001	NULL
4942	129018	Disease	p.Gln90Glu	613349.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	71	COG4992	4557809,NP_000265
4942	129018	Disease	p.Gln90Glu	613349.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	67	COG0161	4557809,NP_000265
4942	129018	Disease	p.Gln90Glu	613349.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	68	COG0001	4557809,NP_000265
4942	129018	Disease	p.Gln90Glu	613349.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	31	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Gln90Glu	613349.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	69	cd00610	4557809,NP_000265
4942	129018	Disease	p.Gln90Glu	613349.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	110	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Gln90Glu	613349.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	234	pfam00202	NULL
4942	284507298	Disease	p.Gln90Glu	613349.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	309	cd00610	NULL
4942	284507298	Disease	p.Gln90Glu	613349.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	249	COG0161	NULL
4942	284507298	Disease	p.Gln90Glu	613349.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	311	COG0160	NULL
4942	284507298	Disease	p.Gln90Glu	613349.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	238	COG4992	NULL
4942	284507298	Disease	p.Gln90Glu	613349.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	245	COG0001	NULL
4942	129018	Disease	p.Pro199Gln	613349.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	195	COG4992	4557809,NP_000265
4942	129018	Disease	p.Pro199Gln	613349.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	125	cd01494	4557809,NP_000265
4942	129018	Disease	p.Pro199Gln	613349.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	189	COG0161	4557809,NP_000265
4942	129018	Disease	p.Pro199Gln	613349.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	214	COG0001	4557809,NP_000265
4942	129018	Disease	p.Pro199Gln	613349.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	169	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Pro199Gln	613349.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	237	cd00610	4557809,NP_000265
4942	129018	Disease	p.Pro199Gln	613349.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	255	COG0160	4557809,NP_000265
4942	284507298	Disease	p.Pro199Gln	613349.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	359	pfam00202	NULL
4942	284507298	Disease	p.Pro199Gln	613349.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	445	cd00610	NULL
4942	284507298	Disease	p.Pro199Gln	613349.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	383	COG0161	NULL
4942	284507298	Disease	p.Pro199Gln	613349.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	427	COG0160	NULL
4942	284507298	Disease	p.Pro199Gln	613349.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	355	COG4992	NULL
4942	284507298	Disease	p.Pro199Gln	613349.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613349	GYRATE ATROPHY OF CHOROID AND RETINA	OMIM	375	COG0001	NULL
1807	3122049	Disease	p.Gln334Arg	613326.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	367	cd01315	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	613326.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	459	cd01297	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	613326.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	610	cd01292	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	613326.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	324	cd01302	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	613326.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	239_G	cd01316	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	613326.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	287_G	cd01318	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	613326.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	406	cd01314	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	613326.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	391_G	cd01298	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	613326.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	363	cd00854	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	613326.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	366	pfam01979	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	613326.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	421	cd01317	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	613326.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	393	COG0044	4503375,NP_001376
1807	3122049	Disease	p.Gly435Arg	613326.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	543	cd01315	4503375,NP_001376
1807	3122049	Disease	p.Gly435Arg	613326.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	598	cd01297	4503375,NP_001376
1807	3122049	Disease	p.Gly435Arg	613326.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	436	cd01302	4503375,NP_001376
1807	3122049	Disease	p.Gly435Arg	613326.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	332	cd01316	4503375,NP_001376
1807	3122049	Disease	p.Gly435Arg	613326.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	406	cd01318	4503375,NP_001376
1807	3122049	Disease	p.Gly435Arg	613326.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	533	cd01314	4503375,NP_001376
1807	3122049	Disease	p.Gly435Arg	613326.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	491_G	cd01298	4503375,NP_001376
1807	3122049	Disease	p.Gly435Arg	613326.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	568	cd01317	4503375,NP_001376
1807	3122049	Disease	p.Gly435Arg	613326.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	500	COG0044	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	613326.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	463	cd01315	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	613326.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	484	cd01297	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	613326.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	646	cd01292	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	613326.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	353	cd01302	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	613326.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	263	cd01316	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	613326.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	317	cd01318	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	613326.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	439	cd01314	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	613326.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	399	cd01298	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	613326.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	430	cd00854	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	613326.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	392	pfam01979	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	613326.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	446	cd01317	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	613326.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	421	COG0044	4503375,NP_001376
1807	3122049	Disease	p.Arg412Met	613326.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	518	cd01315	4503375,NP_001376
1807	3122049	Disease	p.Arg412Met	613326.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	570	cd01297	4503375,NP_001376
1807	3122049	Disease	p.Arg412Met	613326.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	411	cd01302	4503375,NP_001376
1807	3122049	Disease	p.Arg412Met	613326.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	308_G	cd01316	4503375,NP_001376
1807	3122049	Disease	p.Arg412Met	613326.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	374	cd01318	4503375,NP_001376
1807	3122049	Disease	p.Arg412Met	613326.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	493	cd01314	4503375,NP_001376
1807	3122049	Disease	p.Arg412Met	613326.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	467	cd01298	4503375,NP_001376
1807	3122049	Disease	p.Arg412Met	613326.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	498_G	cd00854	4503375,NP_001376
1807	3122049	Disease	p.Arg412Met	613326.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	542	cd01317	4503375,NP_001376
1807	3122049	Disease	p.Arg412Met	613326.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613326	DIHYDROPYRIMIDINASE DEFICIENCY	OMIM	477	COG0044	4503375,NP_001376
285590	229463023	Disease	p.Arg43Trp	613293.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613293	FRANK-TER HAAR SYNDROME	OMIM	37	cd06887	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	613293.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613293	FRANK-TER HAAR SYNDROME	OMIM	52	cd06888	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	613293.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613293	FRANK-TER HAAR SYNDROME	OMIM	38	cd06884	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	613293.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613293	FRANK-TER HAAR SYNDROME	OMIM	41	cd06889	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	613293.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613293	FRANK-TER HAAR SYNDROME	OMIM	71	cd06093	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	613293.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613293	FRANK-TER HAAR SYNDROME	OMIM	38	cd06883	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	613293.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613293	FRANK-TER HAAR SYNDROME	OMIM	36	cd07289	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	613293.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613293	FRANK-TER HAAR SYNDROME	OMIM	96	smart00312	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	613293.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613293	FRANK-TER HAAR SYNDROME	OMIM	40	cd06882	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	613293.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613293	FRANK-TER HAAR SYNDROME	OMIM	51	cd06890	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	613293.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613293	FRANK-TER HAAR SYNDROME	OMIM	52	cd06897	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	613293.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613293	FRANK-TER HAAR SYNDROME	OMIM	58	pfam00787	63055059,NP_001017995
389207	205780623	Disease	p.Arg138Cys	613283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613283	DEAFNESS, AUTOSOMAL RECESSIVE 25	OMIM	No Domain	N/A	122937349,NP_001073945
51259	291219932	Disease	p.Arg73Leu	613277.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613277	JOUBERT SYNDROME 2	OMIM	56	pfam09799	NULL
51259	115387120	Disease	p.Arg73Leu	613277.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613277	JOUBERT SYNDROME 2	OMIM	No Domain	N/A	NULL
51259	291219934	Disease	p.Arg73Leu	613277.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613277	JOUBERT SYNDROME 2	OMIM	56	pfam09799	NULL
51259	291219932	Disease	p.Arg73His	613277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613277	JOUBERT SYNDROME 2||MECKEL SYNDROME 2	OMIM	56	pfam09799	NULL
51259	115387120	Disease	p.Arg73His	613277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613277	JOUBERT SYNDROME 2||MECKEL SYNDROME 2	OMIM	No Domain	N/A	NULL
51259	291219934	Disease	p.Arg73His	613277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613277	JOUBERT SYNDROME 2||MECKEL SYNDROME 2	OMIM	56	pfam09799	NULL
51259	291219932	Disease	p.Leu114Arg	613277.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613277	MECKEL SYNDROME 2	OMIM	99	pfam09799	NULL
51259	115387120	Disease	p.Leu114Arg	613277.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613277	MECKEL SYNDROME 2	OMIM	No Domain	N/A	NULL
51259	291219934	Disease	p.Leu114Arg	613277.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613277	MECKEL SYNDROME 2	OMIM	99	pfam09799	NULL
51259	291219932	Disease	p.Gly77Ala	613277.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613277	MECKEL SYNDROME 2	OMIM	60	pfam09799	NULL
51259	115387120	Disease	p.Gly77Ala	613277.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613277	MECKEL SYNDROME 2	OMIM	No Domain	N/A	NULL
51259	291219934	Disease	p.Gly77Ala	613277.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613277	MECKEL SYNDROME 2	OMIM	60	pfam09799	NULL
100134444	300680976	Disease	p.Thr354Met	613236.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613236	THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2	OMIM	No Domain	N/A	303227939,NP_001181887
100134444	300680976	Disease	p.Arg205His	613236.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613236	THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2	OMIM	No Domain	N/A	303227939,NP_001181887
100134444	300680976	Disease	p.Lys366Arg	613236.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613236	THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2	OMIM	No Domain	N/A	303227939,NP_001181887
5184	50403718	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	123	cd01085	149589008,NP_000276
5184	50403718	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	137	COG0024	149589008,NP_000276
5184	50403718	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	355	COG0006	149589008,NP_000276
5184	50403718	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	103	cd01086	149589008,NP_000276
5184	50403718	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	93	cd01087	149589008,NP_000276
5184	50403718	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	93	cd01092	149589008,NP_000276
5184	50403718	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	153	cd01066	149589008,NP_000276
5184	50403718	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	337	pfam00557	149589008,NP_000276
5184	260593665	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	167	cd01085	NULL
5184	260593665	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	188	cd01086	NULL
5184	260593665	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	165	cd01087	NULL
5184	260593665	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	170_G	cd01092	NULL
5184	260593665	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	261	cd01066	NULL
5184	260593665	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	433	COG0006	NULL
5184	260593665	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	585	pfam00557	NULL
5184	260593665	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	254	COG0024	NULL
5184	260593663	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	227	cd01066	NULL
5184	260593663	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	437	pfam00557	NULL
5184	260593663	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	408	COG0006	NULL
5184	260593663	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	145	cd01092	NULL
5184	260593663	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	136	cd01087	NULL
5184	260593663	Disease	p.Asp276Asn	613230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	160_G	cd01085	NULL
5184	50403718	Disease	p.Arg184Gln	613230.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	4	COG0024	149589008,NP_000276
5184	50403718	Disease	p.Arg184Gln	613230.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	235	COG0006	149589008,NP_000276
5184	260593665	Disease	p.Arg184Gln	613230.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	86	cd01085	NULL
5184	260593665	Disease	p.Arg184Gln	613230.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	78_G	cd01086	NULL
5184	260593665	Disease	p.Arg184Gln	613230.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	63	cd01087	NULL
5184	260593665	Disease	p.Arg184Gln	613230.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	64	cd01092	NULL
5184	260593665	Disease	p.Arg184Gln	613230.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	94	cd01066	NULL
5184	260593665	Disease	p.Arg184Gln	613230.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	319	COG0006	NULL
5184	260593665	Disease	p.Arg184Gln	613230.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	222	pfam00557	NULL
5184	260593665	Disease	p.Arg184Gln	613230.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	91	COG0024	NULL
5184	260593663	Disease	p.Arg184Gln	613230.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	50	cd01066	NULL
5184	260593663	Disease	p.Arg184Gln	613230.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	125	pfam00557	NULL
5184	260593663	Disease	p.Arg184Gln	613230.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	291	COG0006	NULL
5184	260593663	Disease	p.Arg184Gln	613230.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	14	cd01092	NULL
5184	260593663	Disease	p.Arg184Gln	613230.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	38	cd01087	NULL
5184	260593663	Disease	p.Arg184Gln	613230.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	57	cd01085	NULL
5184	50403718	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	125	cd01085	149589008,NP_000276
5184	50403718	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	139	COG0024	149589008,NP_000276
5184	50403718	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	357	COG0006	149589008,NP_000276
5184	50403718	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	105	cd01086	149589008,NP_000276
5184	50403718	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	95	cd01087	149589008,NP_000276
5184	50403718	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	95	cd01092	149589008,NP_000276
5184	50403718	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	155	cd01066	149589008,NP_000276
5184	50403718	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	339	pfam00557	149589008,NP_000276
5184	260593665	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	169	cd01085	NULL
5184	260593665	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	190	cd01086	NULL
5184	260593665	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	167	cd01087	NULL
5184	260593665	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	170_G	cd01092	NULL
5184	260593665	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	263	cd01066	NULL
5184	260593665	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	435	COG0006	NULL
5184	260593665	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	587	pfam00557	NULL
5184	260593665	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	285	COG0024	NULL
5184	260593663	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	229	cd01066	NULL
5184	260593663	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	441	pfam00557	NULL
5184	260593663	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	410	COG0006	NULL
5184	260593663	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	147	cd01092	NULL
5184	260593663	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	138	cd01087	NULL
5184	260593663	Disease	p.Gly278Asp	613230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	161	cd01085	NULL
5184	50403718	Disease	p.Gly448Arg	613230.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	269	cd01085	149589008,NP_000276
5184	50403718	Disease	p.Gly448Arg	613230.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	506	COG0024	149589008,NP_000276
5184	50403718	Disease	p.Gly448Arg	613230.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	564	COG0006	149589008,NP_000276
5184	50403718	Disease	p.Gly448Arg	613230.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	414_G	cd01086	149589008,NP_000276
5184	50403718	Disease	p.Gly448Arg	613230.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	328	cd01087	149589008,NP_000276
5184	50403718	Disease	p.Gly448Arg	613230.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	228	cd01092	149589008,NP_000276
5184	50403718	Disease	p.Gly448Arg	613230.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	480	cd01066	149589008,NP_000276
5184	50403718	Disease	p.Gly448Arg	613230.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	1090	pfam00557	149589008,NP_000276
5184	260593665	Disease	p.Gly448Arg	613230.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	No Domain	N/A	NULL
5184	260593663	Disease	p.Gly448Arg	613230.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	No Domain	N/A	NULL
5184	50403718	Disease	p.Glu412Lys	613230.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	258	cd01085	149589008,NP_000276
5184	50403718	Disease	p.Glu412Lys	613230.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	394	COG0024	149589008,NP_000276
5184	50403718	Disease	p.Glu412Lys	613230.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	527	COG0006	149589008,NP_000276
5184	50403718	Disease	p.Glu412Lys	613230.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	383	cd01086	149589008,NP_000276
5184	50403718	Disease	p.Glu412Lys	613230.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	291	cd01087	149589008,NP_000276
5184	50403718	Disease	p.Glu412Lys	613230.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	218	cd01092	149589008,NP_000276
5184	50403718	Disease	p.Glu412Lys	613230.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	389	cd01066	149589008,NP_000276
5184	50403718	Disease	p.Glu412Lys	613230.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	853	pfam00557	149589008,NP_000276
5184	260593665	Disease	p.Glu412Lys	613230.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	No Domain	N/A	NULL
5184	260593663	Disease	p.Glu412Lys	613230.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	485	cd01066	NULL
5184	260593663	Disease	p.Glu412Lys	613230.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	1103	pfam00557	NULL
5184	260593663	Disease	p.Glu412Lys	613230.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	569	COG0006	NULL
5184	260593663	Disease	p.Glu412Lys	613230.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	233	cd01092	NULL
5184	260593663	Disease	p.Glu412Lys	613230.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	333	cd01087	NULL
5184	260593663	Disease	p.Glu412Lys	613230.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	274	cd01085	NULL
5184	50403718	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	2	cd01085	149589008,NP_000276
5184	50403718	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	22	COG0024	149589008,NP_000276
5184	50403718	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	253	COG0006	149589008,NP_000276
5184	50403718	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	11	cd01086	149589008,NP_000276
5184	50403718	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	11	cd01087	149589008,NP_000276
5184	50403718	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	11	cd01092	149589008,NP_000276
5184	50403718	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	11	cd01066	149589008,NP_000276
5184	50403718	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	10	pfam00557	149589008,NP_000276
5184	260593665	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	113	cd01085	NULL
5184	260593665	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	93	cd01086	NULL
5184	260593665	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	83	cd01087	NULL
5184	260593665	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	83	cd01092	NULL
5184	260593665	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	143	cd01066	NULL
5184	260593665	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	333	COG0006	NULL
5184	260593665	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	271	pfam00557	NULL
5184	260593665	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	127	COG0024	NULL
5184	260593663	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	89	cd01066	NULL
5184	260593663	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	216	pfam00557	NULL
5184	260593663	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	314	COG0006	NULL
5184	260593663	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	59	cd01092	NULL
5184	260593663	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	58	cd01087	NULL
5184	260593663	Disease	p.Ser202Phe	613230.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230	PROLIDASE DEFICIENCY	OMIM	81	cd01085	NULL
175	285002253	Disease	p.Cys163Ser	613228.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA, FINNISH TYPE	OMIM	382	cd04514	NULL
175	285002253	Disease	p.Cys163Ser	613228.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA, FINNISH TYPE	OMIM	140	pfam01112	NULL
175	285002253	Disease	p.Cys163Ser	613228.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA, FINNISH TYPE	OMIM	163	cd04702	NULL
175	285002253	Disease	p.Cys163Ser	613228.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA, FINNISH TYPE	OMIM	245	cd04701	NULL
175	285002253	Disease	p.Cys163Ser	613228.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA, FINNISH TYPE	OMIM	159	COG1446	NULL
175	285002253	Disease	p.Cys163Ser	613228.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA, FINNISH TYPE	OMIM	157	cd04703	NULL
175	285002253	Disease	p.Cys163Ser	613228.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA, FINNISH TYPE	OMIM	150	cd04513	NULL
175	285002253	Disease	p.Cys163Ser	613228.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA, FINNISH TYPE	OMIM	167	cd04512	NULL
175	288558804	Disease	p.Cys163Ser	613228.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA, FINNISH TYPE	OMIM	382	cd04514	285002251,NP_000018
175	288558804	Disease	p.Cys163Ser	613228.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA, FINNISH TYPE	OMIM	140	pfam01112	285002251,NP_000018
175	288558804	Disease	p.Cys163Ser	613228.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA, FINNISH TYPE	OMIM	163	cd04702	285002251,NP_000018
175	288558804	Disease	p.Cys163Ser	613228.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA, FINNISH TYPE	OMIM	245	cd04701	285002251,NP_000018
175	288558804	Disease	p.Cys163Ser	613228.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA, FINNISH TYPE	OMIM	159	COG1446	285002251,NP_000018
175	288558804	Disease	p.Cys163Ser	613228.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA, FINNISH TYPE	OMIM	157	cd04703	285002251,NP_000018
175	288558804	Disease	p.Cys163Ser	613228.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA, FINNISH TYPE	OMIM	150	cd04513	285002251,NP_000018
175	288558804	Disease	p.Cys163Ser	613228.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA, FINNISH TYPE	OMIM	167	cd04512	285002251,NP_000018
175	285002253	Disease	p.Gly302Arg	613228.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	602	cd04514	NULL
175	285002253	Disease	p.Gly302Arg	613228.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	305	pfam01112	NULL
175	285002253	Disease	p.Gly302Arg	613228.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	305	cd04702	NULL
175	285002253	Disease	p.Gly302Arg	613228.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	551	cd04701	NULL
175	285002253	Disease	p.Gly302Arg	613228.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	317	COG1446	NULL
175	285002253	Disease	p.Gly302Arg	613228.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	297	cd04703	NULL
175	285002253	Disease	p.Gly302Arg	613228.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	336	cd04513	NULL
175	285002253	Disease	p.Gly302Arg	613228.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	335	cd04512	NULL
175	288558804	Disease	p.Gly302Arg	613228.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	581	cd04514	285002251,NP_000018
175	288558804	Disease	p.Gly302Arg	613228.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	295	pfam01112	285002251,NP_000018
175	288558804	Disease	p.Gly302Arg	613228.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	284	cd04702	285002251,NP_000018
175	288558804	Disease	p.Gly302Arg	613228.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	522	cd04701	285002251,NP_000018
175	288558804	Disease	p.Gly302Arg	613228.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	307	COG1446	285002251,NP_000018
175	288558804	Disease	p.Gly302Arg	613228.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	284	cd04703	285002251,NP_000018
175	288558804	Disease	p.Gly302Arg	613228.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	326	cd04513	285002251,NP_000018
175	288558804	Disease	p.Gly302Arg	613228.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	309	cd04512	285002251,NP_000018
175	285002253	Disease	p.Cys306Arg	613228.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	606	cd04514	NULL
175	285002253	Disease	p.Cys306Arg	613228.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	309	pfam01112	NULL
175	285002253	Disease	p.Cys306Arg	613228.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	309	cd04702	NULL
175	285002253	Disease	p.Cys306Arg	613228.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	555	cd04701	NULL
175	285002253	Disease	p.Cys306Arg	613228.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	321	COG1446	NULL
175	285002253	Disease	p.Cys306Arg	613228.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	301	cd04703	NULL
175	285002253	Disease	p.Cys306Arg	613228.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	340	cd04513	NULL
175	285002253	Disease	p.Cys306Arg	613228.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	339	cd04512	NULL
175	288558804	Disease	p.Cys306Arg	613228.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	585	cd04514	285002251,NP_000018
175	288558804	Disease	p.Cys306Arg	613228.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	299	pfam01112	285002251,NP_000018
175	288558804	Disease	p.Cys306Arg	613228.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	288	cd04702	285002251,NP_000018
175	288558804	Disease	p.Cys306Arg	613228.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	526	cd04701	285002251,NP_000018
175	288558804	Disease	p.Cys306Arg	613228.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	311	COG1446	285002251,NP_000018
175	288558804	Disease	p.Cys306Arg	613228.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	289	cd04703	285002251,NP_000018
175	288558804	Disease	p.Cys306Arg	613228.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	330	cd04513	285002251,NP_000018
175	288558804	Disease	p.Cys306Arg	613228.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	313	cd04512	285002251,NP_000018
175	285002253	Disease	p.Gly60Asp	613228.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	55	cd04514	NULL
175	285002253	Disease	p.Gly60Asp	613228.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	37	pfam01112	NULL
175	285002253	Disease	p.Gly60Asp	613228.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	55	cd04702	NULL
175	285002253	Disease	p.Gly60Asp	613228.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	68	cd04701	NULL
175	285002253	Disease	p.Gly60Asp	613228.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	56	COG1446	NULL
175	285002253	Disease	p.Gly60Asp	613228.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	48	cd04703	NULL
175	285002253	Disease	p.Gly60Asp	613228.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	41	cd04513	NULL
175	285002253	Disease	p.Gly60Asp	613228.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	52	cd04512	NULL
175	288558804	Disease	p.Gly60Asp	613228.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	55	cd04514	285002251,NP_000018
175	288558804	Disease	p.Gly60Asp	613228.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	37	pfam01112	285002251,NP_000018
175	288558804	Disease	p.Gly60Asp	613228.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	55	cd04702	285002251,NP_000018
175	288558804	Disease	p.Gly60Asp	613228.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	68	cd04701	285002251,NP_000018
175	288558804	Disease	p.Gly60Asp	613228.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	56	COG1446	285002251,NP_000018
175	288558804	Disease	p.Gly60Asp	613228.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	48	cd04703	285002251,NP_000018
175	288558804	Disease	p.Gly60Asp	613228.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	41	cd04513	285002251,NP_000018
175	288558804	Disease	p.Gly60Asp	613228.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	52	cd04512	285002251,NP_000018
175	285002253	Disease	p.Ala101Val	613228.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	95	cd04514	NULL
175	285002253	Disease	p.Ala101Val	613228.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	78	pfam01112	NULL
175	285002253	Disease	p.Ala101Val	613228.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	95	cd04702	NULL
175	285002253	Disease	p.Ala101Val	613228.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	132	cd04701	NULL
175	285002253	Disease	p.Ala101Val	613228.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	98	COG1446	NULL
175	285002253	Disease	p.Ala101Val	613228.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	89	cd04703	NULL
175	285002253	Disease	p.Ala101Val	613228.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	84	cd04513	NULL
175	285002253	Disease	p.Ala101Val	613228.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	93	cd04512	NULL
175	288558804	Disease	p.Ala101Val	613228.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	95	cd04514	285002251,NP_000018
175	288558804	Disease	p.Ala101Val	613228.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	78	pfam01112	285002251,NP_000018
175	288558804	Disease	p.Ala101Val	613228.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	95	cd04702	285002251,NP_000018
175	288558804	Disease	p.Ala101Val	613228.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	132	cd04701	285002251,NP_000018
175	288558804	Disease	p.Ala101Val	613228.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	98	COG1446	285002251,NP_000018
175	288558804	Disease	p.Ala101Val	613228.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	89	cd04703	285002251,NP_000018
175	288558804	Disease	p.Ala101Val	613228.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	84	cd04513	285002251,NP_000018
175	288558804	Disease	p.Ala101Val	613228.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	93	cd04512	285002251,NP_000018
175	285002253	Disease	p.Ser72Pro	613228.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	64	cd04514	NULL
175	285002253	Disease	p.Ser72Pro	613228.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	49	pfam01112	NULL
175	285002253	Disease	p.Ser72Pro	613228.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	67	cd04702	NULL
175	285002253	Disease	p.Ser72Pro	613228.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	76	cd04701	NULL
175	285002253	Disease	p.Ser72Pro	613228.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	68	COG1446	NULL
175	285002253	Disease	p.Ser72Pro	613228.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	60	cd04703	NULL
175	285002253	Disease	p.Ser72Pro	613228.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	55	cd04513	NULL
175	285002253	Disease	p.Ser72Pro	613228.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	64	cd04512	NULL
175	288558804	Disease	p.Ser72Pro	613228.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	64	cd04514	285002251,NP_000018
175	288558804	Disease	p.Ser72Pro	613228.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	49	pfam01112	285002251,NP_000018
175	288558804	Disease	p.Ser72Pro	613228.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	67	cd04702	285002251,NP_000018
175	288558804	Disease	p.Ser72Pro	613228.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	76	cd04701	285002251,NP_000018
175	288558804	Disease	p.Ser72Pro	613228.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	68	COG1446	285002251,NP_000018
175	288558804	Disease	p.Ser72Pro	613228.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	60	cd04703	285002251,NP_000018
175	288558804	Disease	p.Ser72Pro	613228.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	55	cd04513	285002251,NP_000018
175	288558804	Disease	p.Ser72Pro	613228.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613228	ASPARTYLGLUCOSAMINURIA	OMIM	64	cd04512	285002251,NP_000018
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	344	cd00322	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	119_G	cd06198	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	94	cd06212	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	162	cd06184	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	169	cd06216	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	105	cd06196	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	128	COG1018	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	218_G	cd06188	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	124_G	COG0543	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	138	cd06221	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	117	cd06215	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	106_G	cd06189	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	297	cd06183	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	103	cd06191	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	160	cd06187	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	282	cd06186	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	95_G	cd06190	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	110	cd06211	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	112_G	cd06217	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	135_G	cd06214	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	115	cd06210	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	94_G	cd06209	NULL
1727	284448553	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	141	cd06195	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	344	cd00322	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	119_G	cd06198	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	94	cd06212	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	162	cd06184	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	169	cd06216	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	105	cd06196	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	128	COG1018	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	218_G	cd06188	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	124_G	COG0543	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	138	cd06221	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	117	cd06215	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	106_G	cd06189	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	297	cd06183	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	103	cd06191	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	160	cd06187	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	282	cd06186	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	95_G	cd06190	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	110	cd06211	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	112_G	cd06217	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	135_G	cd06214	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	115	cd06210	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	94_G	cd06209	NULL
1727	193794826	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	141	cd06195	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	344	cd00322	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	119_G	cd06198	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	94	cd06212	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	162	cd06184	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	169	cd06216	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	105	cd06196	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	128	COG1018	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	218_G	cd06188	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	124_G	COG0543	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	138	cd06221	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	117	cd06215	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	106_G	cd06189	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	297	cd06183	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	103	cd06191	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	160	cd06187	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	282	cd06186	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	95_G	cd06190	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	110	cd06211	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	112_G	cd06217	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	135_G	cd06214	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	115	cd06210	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	94_G	cd06209	NULL
1727	6552328	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	141	cd06195	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	51	cd06212	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	67	cd06211	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	80	cd06214	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	63	cd06210	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	52	cd06209	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	64	cd06217	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	121	cd06188	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	70	COG1018	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	70	COG0543	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	37	cd06221	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	46	cd06190	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	89	cd06187	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	114	cd06186	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	56	cd06215	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	56	cd06189	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	140	cd06183	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	53	cd06191	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	73	cd06195	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	222	cd00322	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	67	cd06198	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	95	cd06184	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	65	pfam00970	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	51	cd06196	NULL
1727	284448551	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	83	cd06216	NULL
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	111	cd06221	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	75	cd06212	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	294	cd00322	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	214	cd06186	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	72	cd06190	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	130	cd06187	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	145	cd06216	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	103	COG1018	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	190	cd06188	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	92	cd06217	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	91	cd06211	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	113	cd06214	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	87	cd06210	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	76	cd06209	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	117	cd06195	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	95	COG0543	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	78	cd06191	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	92	cd06215	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	84	cd06189	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	260	cd06183	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	80	cd06196	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	104	pfam00970	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	138	cd06184	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	613213.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	96	cd06198	4503327,NP_000389
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	81	cd00322	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	49	cd06198	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	36	cd06212	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	47	pfam00970	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	71	cd06184	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	66	cd06216	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	36	cd06196	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	51	COG1018	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	96	cd06188	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	55	COG0543	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	7	cd06221	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	37	cd06215	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	42	cd06189	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	84	cd06183	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	38	cd06191	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	44	cd06187	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	80	cd06186	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	33	cd06190	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	42	cd06211	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	42	cd06217	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	48	cd06214	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	51	cd06210	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	40	cd06209	NULL
1727	284448553	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	39	cd06195	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	81	cd00322	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	49	cd06198	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	36	cd06212	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	47	pfam00970	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	71	cd06184	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	66	cd06216	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	36	cd06196	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	51	COG1018	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	96	cd06188	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	55	COG0543	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	7	cd06221	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	37	cd06215	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	42	cd06189	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	84	cd06183	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	38	cd06191	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	44	cd06187	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	80	cd06186	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	33	cd06190	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	42	cd06211	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	42	cd06217	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	48	cd06214	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	51	cd06210	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	40	cd06209	NULL
1727	193794826	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	39	cd06195	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	81	cd00322	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	49	cd06198	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	36	cd06212	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	47	pfam00970	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	71	cd06184	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	66	cd06216	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	36	cd06196	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	51	COG1018	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	96	cd06188	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	55	COG0543	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	7	cd06221	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	37	cd06215	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	42	cd06189	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	84	cd06183	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	38	cd06191	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	44	cd06187	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	80	cd06186	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	33	cd06190	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	42	cd06211	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	42	cd06217	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	48	cd06214	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	51	cd06210	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	40	cd06209	NULL
1727	6552328	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	39	cd06195	NULL
1727	284448551	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	4	cd06216	NULL
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	16	cd06212	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	37	cd00322	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	29	cd06186	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	12	cd06190	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	20	cd06187	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	33	cd06216	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	21	COG1018	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	34	cd06188	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	17	cd06217	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	22	cd06211	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	17	cd06214	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	22	cd06210	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	17	cd06209	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	15	cd06195	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	27	COG0543	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	14	cd06191	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	14	cd06215	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	16	cd06189	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	43	cd06183	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	16	cd06196	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	15	pfam00970	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	36	cd06184	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	613213.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	4	cd06198	4503327,NP_000389
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	365	cd00322	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	132_G	cd06198	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	109_G	cd06212	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	196	cd06184	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	191	cd06216	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	111_G	cd06196	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	141_G	COG1018	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	227_G	cd06188	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	138	COG0543	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	140_G	cd06221	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	134_G	cd06215	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	126_G	cd06189	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	334	cd06183	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	112_G	cd06191	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	183_G	cd06187	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	327	cd06186	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	105_G	cd06190	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	124_G	cd06211	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	129_G	cd06217	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	157	cd06214	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	137	cd06210	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	110_G	cd06209	NULL
1727	284448553	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	152	cd06195	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	365	cd00322	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	132_G	cd06198	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	109_G	cd06212	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	196	cd06184	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	191	cd06216	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	111_G	cd06196	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	141_G	COG1018	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	227_G	cd06188	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	138	COG0543	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	140_G	cd06221	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	134_G	cd06215	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	126_G	cd06189	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	334	cd06183	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	112_G	cd06191	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	183_G	cd06187	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	327	cd06186	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	105_G	cd06190	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	124_G	cd06211	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	129_G	cd06217	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	157	cd06214	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	137	cd06210	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	110_G	cd06209	NULL
1727	193794826	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	152	cd06195	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	365	cd00322	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	132_G	cd06198	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	109_G	cd06212	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	196	cd06184	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	191	cd06216	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	111_G	cd06196	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	141_G	COG1018	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	227_G	cd06188	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	138	COG0543	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	140_G	cd06221	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	134_G	cd06215	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	126_G	cd06189	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	334	cd06183	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	112_G	cd06191	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	183_G	cd06187	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	327	cd06186	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	105_G	cd06190	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	124_G	cd06211	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	129_G	cd06217	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	157	cd06214	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	137	cd06210	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	110_G	cd06209	NULL
1727	6552328	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	152	cd06195	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	69_G	cd06212	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	85_G	cd06211	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	98_G	cd06214	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	81_G	cd06210	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	70_G	cd06209	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	85_G	cd06217	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	172	cd06188	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	90_G	COG1018	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	89_G	COG0543	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	105_G	cd06221	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	66_G	cd06190	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	115	cd06187	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	202	cd06186	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	81	cd06215	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	75_G	cd06189	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	189	cd06183	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	70_G	cd06191	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	105	cd06195	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	276	cd00322	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	90_G	cd06198	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	116	cd06184	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	92	pfam00970	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	72	cd06196	NULL
1727	284448551	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	139_G	cd06216	NULL
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	136	cd06221	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	93_G	cd06212	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	342	cd00322	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	280	cd06186	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	94	cd06190	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	158	cd06187	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	167	cd06216	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	126	COG1018	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	218_G	cd06188	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	112_G	cd06217	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	109_G	cd06211	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	135_G	cd06214	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	113	cd06210	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	94_G	cd06209	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	139	cd06195	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	124_G	COG0543	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	101	cd06191	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	115	cd06215	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	106_G	cd06189	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	295	cd06183	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	103	cd06196	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	131	pfam00970	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	160	cd06184	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	613213.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	118	cd06198	4503327,NP_000389
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	295	cd00322	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	97	cd06198	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	76	cd06212	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	105	pfam00970	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	139	cd06184	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	146	cd06216	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	81	cd06196	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	104	COG1018	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	191	cd06188	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	96	COG0543	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	112	cd06221	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	93	cd06215	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	85	cd06189	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	261	cd06183	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	79	cd06191	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	131	cd06187	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	215	cd06186	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	73	cd06190	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	92	cd06211	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	93	cd06217	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	114	cd06214	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	88	cd06210	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	77	cd06209	NULL
1727	284448553	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	118	cd06195	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	295	cd00322	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	97	cd06198	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	76	cd06212	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	105	pfam00970	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	139	cd06184	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	146	cd06216	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	81	cd06196	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	104	COG1018	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	191	cd06188	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	96	COG0543	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	112	cd06221	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	93	cd06215	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	85	cd06189	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	261	cd06183	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	79	cd06191	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	131	cd06187	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	215	cd06186	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	73	cd06190	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	92	cd06211	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	93	cd06217	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	114	cd06214	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	88	cd06210	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	77	cd06209	NULL
1727	193794826	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	118	cd06195	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	295	cd00322	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	97	cd06198	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	76	cd06212	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	105	pfam00970	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	139	cd06184	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	146	cd06216	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	81	cd06196	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	104	COG1018	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	191	cd06188	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	96	COG0543	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	112	cd06221	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	93	cd06215	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	85	cd06189	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	261	cd06183	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	79	cd06191	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	131	cd06187	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	215	cd06186	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	73	cd06190	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	92	cd06211	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	93	cd06217	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	114	cd06214	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	88	cd06210	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	77	cd06209	NULL
1727	6552328	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	118	cd06195	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	31	cd06212	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	37	cd06211	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	40	cd06214	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	43	cd06210	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	33	cd06209	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	34	cd06217	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	74	cd06188	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	45_G	COG1018	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	47	COG0543	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	27_G	cd06190	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	39	cd06187	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	72	cd06186	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	30	cd06215	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	32	cd06189	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	76	cd06183	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	30	cd06191	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	32_G	cd06195	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	73	cd00322	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	41	cd06198	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	63	cd06184	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	37	pfam00970	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	28	cd06196	NULL
1727	284448551	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	58	cd06216	NULL
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	100	cd06221	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	62	cd06212	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	266	cd00322	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	181	cd06186	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	59	cd06190	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	102	cd06187	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	132	cd06216	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	84	COG1018	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	162	cd06188	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	78	cd06217	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	78	cd06211	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	91	cd06214	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	74	cd06210	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	63	cd06209	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	96	cd06195	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	82	COG0543	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	65	cd06191	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	70	cd06215	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	68	cd06189	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	179	cd06183	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	62	cd06196	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	82	pfam00970	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	106	cd06184	4503327,NP_000389
1727	127846	Disease	p.Val106Met	613213.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	85	cd06198	4503327,NP_000389
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	462	cd00322	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	191	cd06198	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	159	cd06212	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	256	cd06184	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	251	cd06216	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	162	cd06196	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	192	COG1018	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	282	cd06188	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	195	COG0543	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	207	cd06221	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	191	cd06215	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	181	cd06189	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	454	cd06183	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	164	cd06191	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	66	pfam00175	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	235	cd06187	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	459	cd06186	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	159	cd06190	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	175	cd06211	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	180	cd06217	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	212	cd06214	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	188	cd06210	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	162	cd06209	NULL
1727	284448553	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	213	cd06195	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	462	cd00322	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	191	cd06198	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	159	cd06212	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	256	cd06184	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	251	cd06216	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	162	cd06196	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	192	COG1018	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	282	cd06188	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	195	COG0543	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	207	cd06221	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	191	cd06215	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	181	cd06189	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	454	cd06183	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	164	cd06191	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	66	pfam00175	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	235	cd06187	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	459	cd06186	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	159	cd06190	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	175	cd06211	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	180	cd06217	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	212	cd06214	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	188	cd06210	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	162	cd06209	NULL
1727	193794826	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	213	cd06195	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	462	cd00322	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	191	cd06198	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	159	cd06212	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	256	cd06184	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	251	cd06216	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	162	cd06196	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	192	COG1018	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	282	cd06188	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	195	COG0543	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	207	cd06221	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	191	cd06215	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	181	cd06189	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	454	cd06183	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	164	cd06191	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	66	pfam00175	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	235	cd06187	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	459	cd06186	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	159	cd06190	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	175	cd06211	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	180	cd06217	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	212	cd06214	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	188	cd06210	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	162	cd06209	NULL
1727	6552328	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	213	cd06195	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	109_G	cd06212	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	124_G	cd06211	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	150	cd06214	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	136	cd06210	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	110_G	cd06209	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	129_G	cd06217	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	227_G	cd06188	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	141_G	COG1018	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	137	COG0543	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	140_G	cd06221	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	105_G	cd06190	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	183_G	cd06187	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	326	cd06186	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	134_G	cd06215	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	126_G	cd06189	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	333	cd06183	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	112_G	cd06191	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	151	cd06195	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	364	cd00322	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	132_G	cd06198	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	195	cd06184	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	111_G	cd06196	NULL
1727	284448551	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	190	cd06216	NULL
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	174	cd06221	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	137	cd06212	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	421	cd00322	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	404	cd06186	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	134_G	cd06190	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	212_G	cd06187	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	228	cd06216	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	169	COG1018	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	259	cd06188	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	157	cd06217	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	148	cd06211	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	190	cd06214	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	165	cd06210	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	139_G	cd06209	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	190_G	cd06195	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	39	pfam00175	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	172	COG0543	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	142	cd06191	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	168	cd06215	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	158_G	cd06189	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	386	cd06183	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	139	cd06196	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	233	cd06184	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	613213.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE II	OMIM	164	cd06198	4503327,NP_000389
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	333	cd00322	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	109	cd06198	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	88	cd06212	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	121	pfam00970	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	151	cd06184	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	158	cd06216	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	94	cd06196	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	116	COG1018	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	211	cd06188	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	119	COG0543	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	123	cd06221	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	105	cd06215	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	101	cd06189	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	277	cd06183	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	91	cd06191	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	143	cd06187	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	226	cd06186	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	85	cd06190	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	104	cd06211	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	105	cd06217	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	127	cd06214	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	104	cd06210	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	89	cd06209	NULL
1727	284448553	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	129	cd06195	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	333	cd00322	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	109	cd06198	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	88	cd06212	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	121	pfam00970	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	151	cd06184	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	158	cd06216	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	94	cd06196	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	116	COG1018	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	211	cd06188	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	119	COG0543	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	123	cd06221	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	105	cd06215	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	101	cd06189	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	277	cd06183	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	91	cd06191	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	143	cd06187	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	226	cd06186	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	85	cd06190	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	104	cd06211	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	105	cd06217	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	127	cd06214	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	104	cd06210	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	89	cd06209	NULL
1727	193794826	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	129	cd06195	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	333	cd00322	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	109	cd06198	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	88	cd06212	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	121	pfam00970	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	151	cd06184	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	158	cd06216	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	94	cd06196	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	116	COG1018	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	211	cd06188	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	119	COG0543	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	123	cd06221	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	105	cd06215	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	101	cd06189	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	277	cd06183	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	91	cd06191	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	143	cd06187	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	226	cd06186	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	85	cd06190	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	104	cd06211	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	105	cd06217	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	127	cd06214	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	104	cd06210	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	89	cd06209	NULL
1727	6552328	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	129	cd06195	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	39	cd06212	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	45	cd06211	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	51	cd06214	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	52_G	cd06210	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	41	cd06209	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	45	cd06217	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	99	cd06188	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	54	COG1018	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	58	COG0543	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	10	cd06221	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	35_G	cd06190	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	47	cd06187	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	83	cd06186	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	41	cd06215	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	45	cd06189	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	87	cd06183	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	41	cd06191	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	42	cd06195	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	84	cd00322	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	52	cd06198	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	74	cd06184	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	50	pfam00970	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	39	cd06196	NULL
1727	284448551	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	69	cd06216	NULL
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	105_G	cd06221	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	69_G	cd06212	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	277	cd00322	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	203	cd06186	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	66_G	cd06190	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	116	cd06187	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	139_G	cd06216	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	90_G	COG1018	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	173	cd06188	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	85_G	cd06217	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	85_G	cd06211	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	98_G	cd06214	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	81_G	cd06210	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	70_G	cd06209	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	111	cd06195	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	89_G	COG0543	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	70_G	cd06191	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	82	cd06215	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	75_G	cd06189	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	190	cd06183	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	73	cd06196	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	93	pfam00970	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	117	cd06184	4503327,NP_000389
1727	127846	Disease	p.Thr117Ser	613213.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM	OMIM	90_G	cd06198	4503327,NP_000389
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	223	cd00322	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	67_G	cd06198	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	52	cd06212	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	66	pfam00970	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	96	cd06184	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	84	cd06216	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	52	cd06196	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	71	COG1018	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	122	cd06188	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	71	COG0543	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	38	cd06221	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	57	cd06215	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	57	cd06189	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	141	cd06183	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	54	cd06191	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	90	cd06187	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	115	cd06186	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	47	cd06190	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	68	cd06211	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	65	cd06217	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	81	cd06214	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	64	cd06210	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	53	cd06209	NULL
1727	284448553	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	74	cd06195	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	223	cd00322	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	67_G	cd06198	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	52	cd06212	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	66	pfam00970	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	96	cd06184	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	84	cd06216	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	52	cd06196	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	71	COG1018	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	122	cd06188	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	71	COG0543	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	38	cd06221	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	57	cd06215	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	57	cd06189	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	141	cd06183	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	54	cd06191	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	90	cd06187	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	115	cd06186	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	47	cd06190	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	68	cd06211	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	65	cd06217	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	81	cd06214	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	64	cd06210	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	53	cd06209	NULL
1727	193794826	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	74	cd06195	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	223	cd00322	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	67_G	cd06198	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	52	cd06212	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	66	pfam00970	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	96	cd06184	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	84	cd06216	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	52	cd06196	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	71	COG1018	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	122	cd06188	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	71	COG0543	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	38	cd06221	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	57	cd06215	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	57	cd06189	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	141	cd06183	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	54	cd06191	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	90	cd06187	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	115	cd06186	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	47	cd06190	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	68	cd06211	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	65	cd06217	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	81	cd06214	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	64	cd06210	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	53	cd06209	NULL
1727	6552328	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	74	cd06195	NULL
1727	284448551	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	3	cd06188	NULL
1727	284448551	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	3	COG1018	NULL
1727	284448551	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	4	COG0543	NULL
1727	284448551	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	16_G	cd06216	NULL
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	31	cd06212	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	73	cd00322	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	72	cd06186	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	27_G	cd06190	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	39	cd06187	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	58	cd06216	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	45_G	COG1018	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	74	cd06188	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	34	cd06217	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	37	cd06211	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	40	cd06214	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	43	cd06210	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	33	cd06209	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	32_G	cd06195	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	47	COG0543	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	30	cd06191	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	30	cd06215	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	32	cd06189	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	76	cd06183	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	28	cd06196	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	37	pfam00970	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	63	cd06184	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	613213.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	41	cd06198	4503327,NP_000389
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	462	cd00322	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	191	cd06198	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	159	cd06212	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	256	cd06184	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	251	cd06216	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	162	cd06196	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	192	COG1018	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	282	cd06188	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	195	COG0543	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	207	cd06221	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	191	cd06215	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	181	cd06189	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	454	cd06183	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	164	cd06191	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	66	pfam00175	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	235	cd06187	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	459	cd06186	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	159	cd06190	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	175	cd06211	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	180	cd06217	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	212	cd06214	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	188	cd06210	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	162	cd06209	NULL
1727	284448553	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	213	cd06195	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	462	cd00322	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	191	cd06198	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	159	cd06212	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	256	cd06184	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	251	cd06216	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	162	cd06196	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	192	COG1018	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	282	cd06188	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	195	COG0543	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	207	cd06221	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	191	cd06215	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	181	cd06189	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	454	cd06183	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	164	cd06191	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	66	pfam00175	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	235	cd06187	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	459	cd06186	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	159	cd06190	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	175	cd06211	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	180	cd06217	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	212	cd06214	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	188	cd06210	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	162	cd06209	NULL
1727	193794826	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	213	cd06195	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	462	cd00322	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	191	cd06198	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	159	cd06212	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	256	cd06184	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	251	cd06216	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	162	cd06196	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	192	COG1018	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	282	cd06188	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	195	COG0543	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	207	cd06221	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	191	cd06215	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	181	cd06189	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	454	cd06183	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	164	cd06191	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	66	pfam00175	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	235	cd06187	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	459	cd06186	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	159	cd06190	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	175	cd06211	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	180	cd06217	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	212	cd06214	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	188	cd06210	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	162	cd06209	NULL
1727	6552328	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	213	cd06195	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	109_G	cd06212	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	124_G	cd06211	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	150	cd06214	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	136	cd06210	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	110_G	cd06209	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	129_G	cd06217	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	227_G	cd06188	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	141_G	COG1018	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	137	COG0543	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	140_G	cd06221	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	105_G	cd06190	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	183_G	cd06187	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	326	cd06186	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	134_G	cd06215	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	126_G	cd06189	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	333	cd06183	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	112_G	cd06191	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	151	cd06195	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	364	cd00322	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	132_G	cd06198	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	195	cd06184	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	111_G	cd06196	NULL
1727	284448551	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	190	cd06216	NULL
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	174	cd06221	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	137	cd06212	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	421	cd00322	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	404	cd06186	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	134_G	cd06190	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	212_G	cd06187	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	228	cd06216	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	169	COG1018	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	259	cd06188	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	157	cd06217	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	148	cd06211	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	190	cd06214	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	165	cd06210	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	139_G	cd06209	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	190_G	cd06195	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	39	pfam00175	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	172	COG0543	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	142	cd06191	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	168	cd06215	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	158_G	cd06189	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	386	cd06183	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	139	cd06196	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	233	cd06184	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	613213.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	164	cd06198	4503327,NP_000389
1727	284448553	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	No Domain	N/A	NULL
1727	193794826	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	No Domain	N/A	NULL
1727	6552328	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	No Domain	N/A	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	196	cd06212	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	109	pfam00175	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	207	cd06211	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	261	cd06214	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	218	cd06210	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	193	cd06209	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	227	cd06217	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	340	cd06188	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	228	COG1018	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	250	COG0543	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	268	cd06221	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	201	cd06190	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	294	cd06187	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	684	cd06186	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	238	cd06215	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	217	cd06189	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	534	cd06183	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	204	cd06191	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	259	cd06195	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	564	cd00322	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	224	cd06198	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	316	cd06184	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	191	cd06196	NULL
1727	284448551	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	285_G	cd06216	NULL
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	331	cd06221	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	231	cd06212	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	599	cd00322	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	785	cd06186	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	237	cd06190	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	331	cd06187	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	324	cd06216	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	311	COG1018	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	399	cd06188	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	260	cd06217	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	243	cd06211	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	319	cd06214	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	252	cd06210	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	223	cd06209	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	309	cd06195	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	283	COG0543	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	231	cd06191	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	269	cd06215	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	252	cd06189	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	655	cd06183	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	229	cd06196	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	358	cd06184	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	613213.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	276	cd06198	4503327,NP_000389
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	568	cd00322	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	237	cd06198	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	200	cd06212	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	332	cd06184	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	289	cd06216	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	196	cd06196	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	231	COG1018	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	344	cd06188	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	254	COG0543	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	272	cd06221	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	241	cd06215	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	221	cd06189	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	538	cd06183	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	207_G	cd06191	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	115	pfam00175	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	298	cd06187	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	688	cd06186	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	205	cd06190	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	211	cd06211	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	232	cd06217	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	268	cd06214	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	222	cd06210	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	197	cd06209	NULL
1727	284448553	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	269	cd06195	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	568	cd00322	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	237	cd06198	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	200	cd06212	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	332	cd06184	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	289	cd06216	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	196	cd06196	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	231	COG1018	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	344	cd06188	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	254	COG0543	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	272	cd06221	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	241	cd06215	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	221	cd06189	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	538	cd06183	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	207_G	cd06191	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	115	pfam00175	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	298	cd06187	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	688	cd06186	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	205	cd06190	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	211	cd06211	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	232	cd06217	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	268	cd06214	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	222	cd06210	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	197	cd06209	NULL
1727	193794826	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	269	cd06195	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	568	cd00322	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	237	cd06198	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	200	cd06212	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	332	cd06184	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	289	cd06216	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	196	cd06196	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	231	COG1018	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	344	cd06188	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	254	COG0543	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	272	cd06221	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	241	cd06215	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	221	cd06189	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	538	cd06183	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	207_G	cd06191	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	115	pfam00175	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	298	cd06187	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	688	cd06186	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	205	cd06190	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	211	cd06211	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	232	cd06217	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	268	cd06214	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	222	cd06210	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	197	cd06209	NULL
1727	6552328	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	269	cd06195	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	139	cd06212	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	43	pfam00175	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	155	cd06211	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	192	cd06214	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	168	cd06210	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	142	cd06209	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	160	cd06217	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	262	cd06188	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	172	COG1018	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	175	COG0543	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	177	cd06221	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	137	cd06190	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	215	cd06187	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	407	cd06186	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	171	cd06215	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	161	cd06189	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	389	cd06183	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	144	cd06191	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	192	cd06195	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	424	cd00322	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	167	cd06198	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	236	cd06184	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	142	cd06196	NULL
1727	284448551	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	231	cd06216	NULL
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	241	cd06221	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	173	cd06212	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	525	cd00322	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	498	cd06186	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	175	cd06190	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	258	cd06187	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	265	cd06216	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	205	COG1018	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	296	cd06188	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	197	cd06217	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	187	cd06211	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	225	cd06214	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	200	cd06210	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	174	cd06209	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	235	cd06195	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	90	pfam00175	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	211	COG0543	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	179	cd06191	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	207	cd06215	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	193	cd06189	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	496	cd06183	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	170	cd06196	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	275	cd06184	4503327,NP_000389
1727	127846	Disease	p.Asp240Gly	613213.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613213	METHEMOGLOBINEMIA, TYPE I	OMIM	205	cd06198	4503327,NP_000389
7508	296453081	Disease	p.Pro218His	613208.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613208	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	OMIM	No Domain	N/A	224809295,NP_004619
7508	224809302	Disease	p.Pro218His	613208.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613208	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	OMIM	No Domain	N/A	NULL
123872	215274261	Disease	p.Leu175Arg	613190.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613190	CILIARY DYSKINESIA, PRIMARY, 13	OMIM	No Domain	N/A	157674358,NP_848547
282996	197276594	Disease	p.Pro638Leu	613171.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613171	CARDIOMYOPATHY, DILATED, 1DD	OMIM	No Domain	N/A	NULL
282996	197276594	Disease	p.Arg634Gln	613171.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613171	CARDIOMYOPATHY, DILATED, 1DD	OMIM	No Domain	N/A	NULL
282996	197276594	Disease	p.Arg636Ser	613171.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613171	CARDIOMYOPATHY, DILATED, 1DD	OMIM	No Domain	N/A	NULL
282996	197276594	Disease	p.Arg636His	613171.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613171	CARDIOMYOPATHY, DILATED, 1DD	OMIM	No Domain	N/A	NULL
282996	197276594	Disease	p.Ser637Gly	613171.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613171	CARDIOMYOPATHY, DILATED, 1DD	OMIM	No Domain	N/A	NULL
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	355	cd02043	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	751	pfam00079	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	311	cd02050	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	323	cd02056	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	664	cd00172	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	322	cd02048	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	532	smart00093	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	371	cd02051	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	318	cd02046	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	329	cd02045	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	326	cd02052	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	315	cd02055	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	334	cd02054	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	371	COG4826	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	393	cd02047	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	364	cd02059	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	321	cd02057	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	336	cd02044	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	358	cd02058	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	303	cd02053	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	332	cd02049	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	355	cd02043	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	751	pfam00079	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	311	cd02050	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	323	cd02056	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	664	cd00172	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	322	cd02048	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	532	smart00093	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	371	cd02051	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	318	cd02046	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	329	cd02045	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	326	cd02052	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	315	cd02055	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	334	cd02054	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	371	COG4826	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	393	cd02047	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	364	cd02059	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	321	cd02057	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	336	cd02044	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	358	cd02058	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	303	cd02053	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	332	cd02049	260064048,NP_001159392|115583663,NP_000925
5345	260064050	Disease	p.Val384Met	613168.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613168	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	OMIM	No Domain	N/A	NULL
124583	66774052	Disease	p.Arg300Cys	613165.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613165	DESBUQUOIS DYSPLASIA	OMIM	213	pfam06079	20270339,NP_620148|229577440,NP_001153244|229577444,NP_001153245
124583	66774052	Disease	p.Arg300Cys	613165.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613165	DESBUQUOIS DYSPLASIA	OMIM	213	pfam06079	20270339,NP_620148|229577440,NP_001153244|229577444,NP_001153245
124583	66774052	Disease	p.Arg300Cys	613165.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613165	DESBUQUOIS DYSPLASIA	OMIM	213	pfam06079	20270339,NP_620148|229577440,NP_001153244|229577444,NP_001153245
124583	66774052	Disease	p.Arg300His	613165.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613165	DESBUQUOIS DYSPLASIA	OMIM	213	pfam06079	20270339,NP_620148|229577440,NP_001153244|229577444,NP_001153245
124583	66774052	Disease	p.Arg300His	613165.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613165	DESBUQUOIS DYSPLASIA	OMIM	213	pfam06079	20270339,NP_620148|229577440,NP_001153244|229577444,NP_001153245
124583	66774052	Disease	p.Arg300His	613165.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613165	DESBUQUOIS DYSPLASIA	OMIM	213	pfam06079	20270339,NP_620148|229577440,NP_001153244|229577444,NP_001153245
124583	66774052	Disease	p.Pro299Leu	613165.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613165	DESBUQUOIS DYSPLASIA	OMIM	212	pfam06079	20270339,NP_620148|229577440,NP_001153244|229577444,NP_001153245
124583	66774052	Disease	p.Pro299Leu	613165.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613165	DESBUQUOIS DYSPLASIA	OMIM	212	pfam06079	20270339,NP_620148|229577440,NP_001153244|229577444,NP_001153245
124583	66774052	Disease	p.Pro299Leu	613165.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613165	DESBUQUOIS DYSPLASIA	OMIM	212	pfam06079	20270339,NP_620148|229577440,NP_001153244|229577444,NP_001153245
7450	89191868	Disease	p.Ile1628Thr	613160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	531	smart00327	NULL
7450	89191868	Disease	p.Ile1628Thr	613160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	137	cd01481	NULL
7450	89191868	Disease	p.Ile1628Thr	613160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	149	cd01476	NULL
7450	89191868	Disease	p.Ile1628Thr	613160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	182	cd01472	NULL
7450	89191868	Disease	p.Ile1628Thr	613160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	144	cd01471	NULL
7450	89191868	Disease	p.Ile1628Thr	613160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	289	cd00198	NULL
7450	89191868	Disease	p.Ile1628Thr	613160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	242	cd01450	NULL
7450	89191868	Disease	p.Ile1628Thr	613160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	215	pfam00092	NULL
7450	89191868	Disease	p.Ile1628Thr	613160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	142	cd01482	NULL
7450	89191868	Disease	p.Arg1597Trp	613160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	329	smart00327	NULL
7450	89191868	Disease	p.Arg1597Trp	613160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	101	cd01481	NULL
7450	89191868	Disease	p.Arg1597Trp	613160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	108	cd01476	NULL
7450	89191868	Disease	p.Arg1597Trp	613160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	137	cd01472	NULL
7450	89191868	Disease	p.Arg1597Trp	613160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	106	cd01471	NULL
7450	89191868	Disease	p.Arg1597Trp	613160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	211	cd00198	NULL
7450	89191868	Disease	p.Arg1597Trp	613160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	173	cd01450	NULL
7450	89191868	Disease	p.Arg1597Trp	613160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	153	pfam00092	NULL
7450	89191868	Disease	p.Arg1597Trp	613160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	106	cd01482	NULL
7450	89191868	Disease	p.Val1607Asp	613160.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	395	smart00327	NULL
7450	89191868	Disease	p.Val1607Asp	613160.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	113	cd01481	NULL
7450	89191868	Disease	p.Val1607Asp	613160.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	119	cd01476	NULL
7450	89191868	Disease	p.Val1607Asp	613160.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	147	cd01472	NULL
7450	89191868	Disease	p.Val1607Asp	613160.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	116	cd01471	NULL
7450	89191868	Disease	p.Val1607Asp	613160.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	221	cd00198	NULL
7450	89191868	Disease	p.Val1607Asp	613160.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	183	cd01450	NULL
7450	89191868	Disease	p.Val1607Asp	613160.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	166	pfam00092	NULL
7450	89191868	Disease	p.Val1607Asp	613160.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	116	cd01482	NULL
7450	89191868	Disease	p.Trp1313Cys	613160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	56	pfam00092	NULL
7450	89191868	Disease	p.Trp1313Cys	613160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	62	cd00198	NULL
7450	89191868	Disease	p.Trp1313Cys	613160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	63	cd01450	NULL
7450	89191868	Disease	p.Trp1313Cys	613160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	120	smart00327	NULL
7450	89191868	Disease	p.Arg1306Trp	613160.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	42	pfam00092	NULL
7450	89191868	Disease	p.Arg1306Trp	613160.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	42	cd00198	NULL
7450	89191868	Disease	p.Arg1306Trp	613160.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	43	cd01450	NULL
7450	89191868	Disease	p.Arg1306Trp	613160.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	79	smart00327	NULL
7450	89191868	Disease	p.Arg1308Cys	613160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	44	pfam00092	NULL
7450	89191868	Disease	p.Arg1308Cys	613160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	44	cd00198	NULL
7450	89191868	Disease	p.Arg1308Cys	613160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	45	cd01450	NULL
7450	89191868	Disease	p.Arg1308Cys	613160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	87	smart00327	NULL
7450	89191868	Disease	p.Val1316Met	613160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	59	pfam00092	NULL
7450	89191868	Disease	p.Val1316Met	613160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	65	cd00198	NULL
7450	89191868	Disease	p.Val1316Met	613160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	66	cd01450	NULL
7450	89191868	Disease	p.Val1316Met	613160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	129	smart00327	NULL
7450	89191868	Disease	p.Arg1341Gln	613160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	98	pfam00092	NULL
7450	89191868	Disease	p.Arg1341Gln	613160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	154	cd00198	NULL
7450	89191868	Disease	p.Arg1341Gln	613160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	109	cd01450	NULL
7450	89191868	Disease	p.Arg1341Gln	613160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	221	smart00327	NULL
7450	89191868	Disease	p.Ser1613Pro	613160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	501	smart00327	NULL
7450	89191868	Disease	p.Ser1613Pro	613160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	119	cd01481	NULL
7450	89191868	Disease	p.Ser1613Pro	613160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	134	cd01476	NULL
7450	89191868	Disease	p.Ser1613Pro	613160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	159	cd01472	NULL
7450	89191868	Disease	p.Ser1613Pro	613160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	131	cd01471	NULL
7450	89191868	Disease	p.Ser1613Pro	613160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	227	cd00198	NULL
7450	89191868	Disease	p.Ser1613Pro	613160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	189	cd01450	NULL
7450	89191868	Disease	p.Ser1613Pro	613160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	177	pfam00092	NULL
7450	89191868	Disease	p.Ser1613Pro	613160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	129	cd01482	NULL
7450	89191868	Disease	p.Arg1399His	613160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND FACTOR POLYMORPHISM	OMIM	186	pfam00092	NULL
7450	89191868	Disease	p.Arg1399His	613160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND FACTOR POLYMORPHISM	OMIM	261	cd00198	NULL
7450	89191868	Disease	p.Arg1399His	613160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND FACTOR POLYMORPHISM	OMIM	210	cd01450	NULL
7450	89191868	Disease	p.Arg1399His	613160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND FACTOR POLYMORPHISM	OMIM	502	smart00327	NULL
7450	89191868	Disease	p.Thr791Met	613160.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2N	OMIM	26	pfam01826	NULL
7450	89191868	Disease	p.Arg816Trp	613160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2N	OMIM	85	pfam01826	NULL
7450	89191868	Disease	p.Arg854Gln	613160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2N||VON WILLEBRAND DISEASE, TYPE 1	OMIM	44	smart00215	NULL
79742	193804856	Disease	p.Arg854Gln	613160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	MOVED TO 613160.0013	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Arg854Gln	613160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	MOVED TO 613160.0013	OMIM	No Domain	N/A	193804854,NP_789789
7450	89191868	Disease	p.Gly1324Ser	613160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2M	OMIM	67	pfam00092	NULL
7450	89191868	Disease	p.Gly1324Ser	613160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2M	OMIM	84	cd00198	NULL
7450	89191868	Disease	p.Gly1324Ser	613160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2M	OMIM	84	cd01450	NULL
7450	89191868	Disease	p.Gly1324Ser	613160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2M	OMIM	158	smart00327	NULL
7450	89191868	Disease	p.Cys1272Arg	613160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	No Domain	N/A	NULL
7450	89191868	Disease	p.Val1314Leu	613160.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	57	pfam00092	NULL
7450	89191868	Disease	p.Val1314Leu	613160.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	63	cd00198	NULL
7450	89191868	Disease	p.Val1314Leu	613160.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	64	cd01450	NULL
7450	89191868	Disease	p.Val1314Leu	613160.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2B	OMIM	127	smart00327	NULL
7450	89191868	Disease	p.Phe1514Cys	613160.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	58	smart00327	NULL
7450	89191868	Disease	p.Phe1514Cys	613160.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	18	cd01481	NULL
7450	89191868	Disease	p.Phe1514Cys	613160.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	17	cd01476	NULL
7450	89191868	Disease	p.Phe1514Cys	613160.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	24	cd01472	NULL
7450	89191868	Disease	p.Phe1514Cys	613160.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	19	cd01471	NULL
7450	89191868	Disease	p.Phe1514Cys	613160.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	29	cd00198	NULL
7450	89191868	Disease	p.Phe1514Cys	613160.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	26	cd01450	NULL
7450	89191868	Disease	p.Phe1514Cys	613160.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	27	pfam00092	NULL
7450	89191868	Disease	p.Phe1514Cys	613160.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	19	cd01482	NULL
7450	89191868	Disease	p.Gly550Arg	613160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	No Domain	N/A	NULL
7450	89191868	Disease	p.Cys2773Arg	613160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	99	smart00041	NULL
79742	193804856	Disease	p.Cys2773Arg	613160.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	MOVED TO 613160.0006	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Cys2773Arg	613160.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	MOVED TO 613160.0006	OMIM	No Domain	N/A	193804854,NP_789789
7450	89191868	Disease	p.Arg1205His	613160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 1||VON WILLEBRAND FACTOR VICENZA	OMIM	No Domain	N/A	NULL
7450	89191868	Disease	p.Cys1149Arg	613160.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 1	OMIM	14	pfam01826	NULL
7450	89191868	Disease	p.Tyr1584Cys	613160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO	OMIM	291	smart00327	NULL
7450	89191868	Disease	p.Tyr1584Cys	613160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO	OMIM	88	cd01481	NULL
7450	89191868	Disease	p.Tyr1584Cys	613160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO	OMIM	93	cd01476	NULL
7450	89191868	Disease	p.Tyr1584Cys	613160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO	OMIM	112	cd01472	NULL
7450	89191868	Disease	p.Tyr1584Cys	613160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO	OMIM	93	cd01471	NULL
7450	89191868	Disease	p.Tyr1584Cys	613160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO	OMIM	187	cd00198	NULL
7450	89191868	Disease	p.Tyr1584Cys	613160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO	OMIM	148	cd01450	NULL
7450	89191868	Disease	p.Tyr1584Cys	613160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO	OMIM	132	pfam00092	NULL
7450	89191868	Disease	p.Tyr1584Cys	613160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO	OMIM	90	cd01482	NULL
7450	89191868	Disease	p.Ser1285Phe	613160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2M	OMIM	9	pfam00092	NULL
7450	89191868	Disease	p.Ser1285Phe	613160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2M	OMIM	10	cd00198	NULL
7450	89191868	Disease	p.Ser1285Phe	613160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2M	OMIM	10	cd01450	NULL
7450	89191868	Disease	p.Ser1285Phe	613160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2M	OMIM	14	smart00327	NULL
7450	89191868	Disease	p.Tyr795Cys	613160.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2N	OMIM	30	pfam01826	NULL
7450	89191868	Disease	p.Cys804Phe	613160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2N	OMIM	58	pfam01826	NULL
7450	89191868	Disease	p.Cys2362Phe	613160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 3	OMIM	No Domain	N/A	NULL
7450	89191868	Disease	p.Cys1060Arg	613160.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2N	OMIM	8	smart00832	NULL
7450	89191868	Disease	p.Cys1060Arg	613160.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2N	OMIM	8	pfam08742	NULL
7450	89191868	Disease	p.Asn528Ser	613160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	205	pfam00094	NULL
7450	89191868	Disease	p.Asn528Ser	613160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613160	VON WILLEBRAND DISEASE, TYPE 2A	OMIM	263	smart00216	NULL
23554	11135167	Disease	p.Ala237Pro	613138.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613138	EXUDATIVE VITREORETINOPATHY 5	OMIM	510	pfam00335	6912528,NP_036470
23554	11135167	Disease	p.Gly188Arg	613138.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613138	EXUDATIVE VITREORETINOPATHY 5	OMIM	433	pfam00335	6912528,NP_036470
23554	11135167	Disease	p.Gly188Arg	613138.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613138	EXUDATIVE VITREORETINOPATHY 5	OMIM	89	cd03161	6912528,NP_036470
23554	11135167	Disease	p.Gly188Arg	613138.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613138	EXUDATIVE VITREORETINOPATHY 5	OMIM	116	cd03127	6912528,NP_036470
23554	11135167	Disease	p.Gly188Arg	613138.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613138	EXUDATIVE VITREORETINOPATHY 5	OMIM	107	cd03156	6912528,NP_036470
23554	11135167	Disease	p.Gly188Arg	613138.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613138	EXUDATIVE VITREORETINOPATHY 5	OMIM	73	cd03157	6912528,NP_036470
23554	11135167	Disease	p.Gly188Arg	613138.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613138	EXUDATIVE VITREORETINOPATHY 5	OMIM	97	cd03165	6912528,NP_036470
23554	11135167	Disease	p.Gly188Arg	613138.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613138	EXUDATIVE VITREORETINOPATHY 5	OMIM	74	cd03166	6912528,NP_036470
23554	11135167	Disease	p.Gly188Arg	613138.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613138	EXUDATIVE VITREORETINOPATHY 5	OMIM	99	cd03155	6912528,NP_036470
23554	11135167	Disease	p.Gly188Arg	613138.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613138	EXUDATIVE VITREORETINOPATHY 5	OMIM	78	cd03163	6912528,NP_036470
23554	11135167	Disease	p.Gly188Arg	613138.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613138	EXUDATIVE VITREORETINOPATHY 5	OMIM	91	cd03160	6912528,NP_036470
23554	11135167	Disease	p.Leu101His	613138.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613138	EXUDATIVE VITREORETINOPATHY 5	OMIM	174	pfam00335	6912528,NP_036470
91624	288856248	Disease	p.Tyr652Cys	613121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	No Domain	N/A	NULL
91624	121945484	Disease	p.Tyr652Cys	613121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	198	smart00409	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	613121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	198	smart00410	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	613121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	88	pfam00047	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	613121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	68	cd04969	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	613121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	66	cd05729	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	613121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	85	cd05748	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	613121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	55	cd05723	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	613121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	93	pfam07679	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	613121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	66	cd05857	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	613121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	123	cd00096	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	613121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	63	cd05856	148839339,NP_653174
91624	288856248	Disease	p.Pro611Thr	613121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	No Domain	N/A	NULL
91624	121945484	Disease	p.Pro611Thr	613121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	39	smart00409	148839339,NP_653174
91624	121945484	Disease	p.Pro611Thr	613121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	39	smart00410	148839339,NP_653174
91624	121945484	Disease	p.Pro611Thr	613121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	21	pfam00047	148839339,NP_653174
91624	121945484	Disease	p.Pro611Thr	613121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	16	cd04969	148839339,NP_653174
91624	121945484	Disease	p.Pro611Thr	613121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	24	cd05729	148839339,NP_653174
91624	121945484	Disease	p.Pro611Thr	613121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	14	cd05748	148839339,NP_653174
91624	121945484	Disease	p.Pro611Thr	613121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	14	cd05723	148839339,NP_653174
91624	121945484	Disease	p.Pro611Thr	613121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	32	pfam07679	148839339,NP_653174
91624	121945484	Disease	p.Pro611Thr	613121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	24	cd05857	148839339,NP_653174
91624	121945484	Disease	p.Pro611Thr	613121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	27	cd00096	148839339,NP_653174
91624	121945484	Disease	p.Pro611Thr	613121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613121	CARDIOMYOPATHY, DILATED, 1CC	OMIM	24	cd05856	148839339,NP_653174
79742	193804856	Disease	p.Arg1391Ser	613113.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613113	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Arg1391Ser	613113.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613113	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
5476	262527235	Disease	p.Phe412Val	613111.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	625	pfam00450	NULL
5476	262527235	Disease	p.Phe412Val	613111.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	532	COG2939	NULL
5476	20178316	Disease	p.Phe412Val	613111.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	626	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Phe412Val	613111.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	533	COG2939	189163485,NP_001121167
5476	119395729	Disease	p.Phe412Val	613111.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	608	pfam00450	NULL
5476	119395729	Disease	p.Phe412Val	613111.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	498	COG2939	NULL
5476	262527235	Disease	p.Gln49Arg	613111.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	72	COG2939	NULL
5476	20178316	Disease	p.Gln49Arg	613111.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	20	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Gln49Arg	613111.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	107	COG2939	189163485,NP_001121167
5476	119395729	Disease	p.Gln49Arg	613111.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	72	COG2939	NULL
5476	262527235	Disease	p.Trp65Arg	613111.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	15	pfam00450	NULL
5476	262527235	Disease	p.Trp65Arg	613111.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	105	COG2939	NULL
5476	20178316	Disease	p.Trp65Arg	613111.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	47	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Trp65Arg	613111.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	129	COG2939	189163485,NP_001121167
5476	119395729	Disease	p.Trp65Arg	613111.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	15	pfam00450	NULL
5476	119395729	Disease	p.Trp65Arg	613111.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	105	COG2939	NULL
5476	262527235	Disease	p.Ser90Leu	613111.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	62	pfam00450	NULL
5476	262527235	Disease	p.Ser90Leu	613111.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	140	COG2939	NULL
5476	20178316	Disease	p.Ser90Leu	613111.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	81	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Ser90Leu	613111.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	158	COG2939	189163485,NP_001121167
5476	119395729	Disease	p.Ser90Leu	613111.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	62	pfam00450	NULL
5476	119395729	Disease	p.Ser90Leu	613111.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	140	COG2939	NULL
5476	262527235	Disease	p.Tyr395Cys	613111.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	608	pfam00450	NULL
5476	262527235	Disease	p.Tyr395Cys	613111.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	498	COG2939	NULL
5476	20178316	Disease	p.Tyr395Cys	613111.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	609	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Tyr395Cys	613111.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	499	COG2939	189163485,NP_001121167
5476	119395729	Disease	p.Tyr395Cys	613111.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	577	pfam00450	NULL
5476	119395729	Disease	p.Tyr395Cys	613111.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	481	COG2939	NULL
5476	262527235	Disease	p.Tyr249Asn	613111.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	366	pfam00450	NULL
5476	262527235	Disease	p.Tyr249Asn	613111.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	355	COG2939	NULL
5476	20178316	Disease	p.Tyr249Asn	613111.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	367	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Tyr249Asn	613111.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	356	COG2939	189163485,NP_001121167
5476	119395729	Disease	p.Tyr249Asn	613111.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	301	pfam00450	NULL
5476	119395729	Disease	p.Tyr249Asn	613111.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS	OMIM	337	COG2939	NULL
5476	262527235	Disease	p.Tyr221Asn	613111.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	284	pfam00450	NULL
5476	262527235	Disease	p.Tyr221Asn	613111.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	326	COG2939	NULL
5476	20178316	Disease	p.Tyr221Asn	613111.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	290	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Tyr221Asn	613111.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	327	COG2939	189163485,NP_001121167
5476	119395729	Disease	p.Tyr221Asn	613111.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	261	pfam00450	NULL
5476	119395729	Disease	p.Tyr221Asn	613111.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	306	COG2939	NULL
5476	262527235	Disease	p.Val104Met	613111.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, EARLY INFANTILE	OMIM	77	pfam00450	NULL
5476	262527235	Disease	p.Val104Met	613111.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, EARLY INFANTILE	OMIM	154	COG2939	NULL
5476	20178316	Disease	p.Val104Met	613111.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, EARLY INFANTILE	OMIM	96	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Val104Met	613111.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, EARLY INFANTILE	OMIM	172	COG2939	189163485,NP_001121167
5476	119395729	Disease	p.Val104Met	613111.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, EARLY INFANTILE	OMIM	77	pfam00450	NULL
5476	119395729	Disease	p.Val104Met	613111.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, EARLY INFANTILE	OMIM	154	COG2939	NULL
5476	262527235	Disease	p.Leu208Pro	613111.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, EARLY INFANTILE	OMIM	265	pfam00450	NULL
5476	262527235	Disease	p.Leu208Pro	613111.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, EARLY INFANTILE	OMIM	310	COG2939	NULL
5476	20178316	Disease	p.Leu208Pro	613111.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, EARLY INFANTILE	OMIM	266	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Leu208Pro	613111.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, EARLY INFANTILE	OMIM	312	COG2939	189163485,NP_001121167
5476	119395729	Disease	p.Leu208Pro	613111.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, EARLY INFANTILE	OMIM	226	pfam00450	NULL
5476	119395729	Disease	p.Leu208Pro	613111.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, EARLY INFANTILE	OMIM	277	COG2939	NULL
5476	262527235	Disease	p.Gly411Ser	613111.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, EARLY INFANTILE	OMIM	624	pfam00450	NULL
5476	262527235	Disease	p.Gly411Ser	613111.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, EARLY INFANTILE	OMIM	531	COG2939	NULL
5476	20178316	Disease	p.Gly411Ser	613111.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, EARLY INFANTILE	OMIM	625	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Gly411Ser	613111.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, EARLY INFANTILE	OMIM	532	COG2939	189163485,NP_001121167
5476	119395729	Disease	p.Gly411Ser	613111.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, EARLY INFANTILE	OMIM	607	pfam00450	NULL
5476	119395729	Disease	p.Gly411Ser	613111.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, EARLY INFANTILE	OMIM	497	COG2939	NULL
5476	262527235	Disease	p.Met378Thr	613111.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	577	pfam00450	NULL
5476	262527235	Disease	p.Met378Thr	613111.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	481	COG2939	NULL
5476	20178316	Disease	p.Met378Thr	613111.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	578	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Met378Thr	613111.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	482	COG2939	189163485,NP_001121167
5476	119395729	Disease	p.Met378Thr	613111.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	551	pfam00450	NULL
5476	119395729	Disease	p.Met378Thr	613111.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	460	COG2939	NULL
5476	262527235	Disease	p.Lys453Glu	613111.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	707	pfam00450	NULL
5476	262527235	Disease	p.Lys453Glu	613111.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	574	COG2939	NULL
5476	20178316	Disease	p.Lys453Glu	613111.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	708	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Lys453Glu	613111.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	575	COG2939	189163485,NP_001121167
5476	119395729	Disease	p.Lys453Glu	613111.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	680	pfam00450	NULL
5476	119395729	Disease	p.Lys453Glu	613111.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613111	GALACTOSIALIDOSIS, LATE INFANTILE	OMIM	557	COG2939	NULL
2760	263190474	Disease	p.Cys107Arg	613109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613109	GM2-GANGLIOSIDOSIS, AB VARIANT	OMIM	76	cd00258	NULL
2760	263190474	Disease	p.Cys107Arg	613109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613109	GM2-GANGLIOSIDOSIS, AB VARIANT	OMIM	92	cd00912	NULL
2760	263190474	Disease	p.Cys107Arg	613109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613109	GM2-GANGLIOSIDOSIS, AB VARIANT	OMIM	131	smart00737	NULL
2760	160331912	Disease	p.Cys107Arg	613109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613109	GM2-GANGLIOSIDOSIS, AB VARIANT	OMIM	76	cd00258	39995109,NP_000396
2760	160331912	Disease	p.Cys107Arg	613109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613109	GM2-GANGLIOSIDOSIS, AB VARIANT	OMIM	92	cd00912	39995109,NP_000396
2760	160331912	Disease	p.Cys107Arg	613109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613109	GM2-GANGLIOSIDOSIS, AB VARIANT	OMIM	131	smart00737	39995109,NP_000396
2760	263190474	Disease	p.Arg169Pro	613109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613109	GM2-GANGLIOSIDOSIS, AB VARIANT	OMIM	139	cd00258	NULL
2760	263190474	Disease	p.Arg169Pro	613109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613109	GM2-GANGLIOSIDOSIS, AB VARIANT	OMIM	178	cd00912	NULL
2760	263190474	Disease	p.Arg169Pro	613109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613109	GM2-GANGLIOSIDOSIS, AB VARIANT	OMIM	215	smart00737	NULL
2760	160331912	Disease	p.Arg169Pro	613109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613109	GM2-GANGLIOSIDOSIS, AB VARIANT	OMIM	138	cd00258	39995109,NP_000396
2760	160331912	Disease	p.Arg169Pro	613109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613109	GM2-GANGLIOSIDOSIS, AB VARIANT	OMIM	156	cd00912	39995109,NP_000396
2760	160331912	Disease	p.Arg169Pro	613109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613109	GM2-GANGLIOSIDOSIS, AB VARIANT	OMIM	221	smart00737	39995109,NP_000396
23203	29840846	Disease	p.Arg515Trp	613037.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613037	JOUBERT SYNDROME 1	OMIM	No Domain	N/A	24308013,NP_055975
23203	29840846	Disease	p.Arg563His	613037.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613037	JOUBERT SYNDROME 1	OMIM	No Domain	N/A	24308013,NP_055975
23203	29840846	Disease	p.Arg435Gln	613037.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613037	JOUBERT SYNDROME 1	OMIM	509	COG0612	24308013,NP_055975
23203	29840846	Disease	p.Arg378Cys	613037.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613037	JOUBERT SYNDROME 1	OMIM	423	COG0612	24308013,NP_055975
23203	29840846	Disease	p.Arg378Cys	613037.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613037	JOUBERT SYNDROME 1	OMIM	299	pfam05193	24308013,NP_055975
79969	186910323	Disease	p.Gly362Val	613018.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613018	TYROSINEMIA, TYPE II	OMIM	No Domain	N/A	NULL
79969	72534730	Disease	p.Gly362Val	613018.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613018	TYROSINEMIA, TYPE II	OMIM	No Domain	N/A	NULL
79969	299758426	Disease	p.Gly362Val	613018.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613018	TYROSINEMIA, TYPE II	OMIM	No Domain	N/A	NULL
131669	260306182	Disease	p.Arg450Cys	613012.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613012	UROCANASE DEFICIENCY	OMIM	344	pfam01175	NULL
131669	260306182	Disease	p.Arg450Cys	613012.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613012	UROCANASE DEFICIENCY	OMIM	354	COG2987	NULL
131669	22256789	Disease	p.Arg450Cys	613012.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613012	UROCANASE DEFICIENCY	OMIM	412	pfam01175	21389467,NP_653240
131669	22256789	Disease	p.Arg450Cys	613012.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613012	UROCANASE DEFICIENCY	OMIM	418	COG2987	21389467,NP_653240
131669	260306182	Disease	p.Leu70Pro	613012.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613012	UROCANASE DEFICIENCY	OMIM	5	COG2987	NULL
131669	22256789	Disease	p.Leu70Pro	613012.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613012	UROCANASE DEFICIENCY	OMIM	5	COG2987	21389467,NP_653240
8635	20139363	Disease	p.Cys184Arg	612944.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612944	LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY	OMIM	398	pfam00445	5231228,NP_003721
8635	20139363	Disease	p.Cys184Arg	612944.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612944	LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY	OMIM	257	cd00374	5231228,NP_003721
8635	20139363	Disease	p.Cys184Arg	612944.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612944	LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY	OMIM	252	cd01061	5231228,NP_003721
8635	20139363	Disease	p.Cys184Arg	612944.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612944	LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY	OMIM	196	cd01062	5231228,NP_003721
5224	130353	Disease	p.Glu89Ala	612931.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612931	GLYCOGEN STORAGE DISEASE X	OMIM	148	COG0588	50593010,NP_000281
5224	130353	Disease	p.Glu89Ala	612931.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612931	GLYCOGEN STORAGE DISEASE X	OMIM	117	COG0406	50593010,NP_000281
5224	130353	Disease	p.Glu89Ala	612931.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612931	GLYCOGEN STORAGE DISEASE X	OMIM	181	cd07067	50593010,NP_000281
5224	130353	Disease	p.Glu89Ala	612931.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612931	GLYCOGEN STORAGE DISEASE X	OMIM	293	cd07040	50593010,NP_000281
5224	130353	Disease	p.Glu89Ala	612931.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612931	GLYCOGEN STORAGE DISEASE X	OMIM	309	pfam00300	50593010,NP_000281
5224	130353	Disease	p.Glu89Ala	612931.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612931	GLYCOGEN STORAGE DISEASE X	OMIM	632	smart00855	50593010,NP_000281
5224	130353	Disease	p.Arg90Trp	612931.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612931	GLYCOGEN STORAGE DISEASE X	OMIM	149	COG0588	50593010,NP_000281
5224	130353	Disease	p.Arg90Trp	612931.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612931	GLYCOGEN STORAGE DISEASE X	OMIM	118	COG0406	50593010,NP_000281
5224	130353	Disease	p.Arg90Trp	612931.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612931	GLYCOGEN STORAGE DISEASE X	OMIM	182	cd07067	50593010,NP_000281
5224	130353	Disease	p.Arg90Trp	612931.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612931	GLYCOGEN STORAGE DISEASE X	OMIM	294	cd07040	50593010,NP_000281
5224	130353	Disease	p.Arg90Trp	612931.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612931	GLYCOGEN STORAGE DISEASE X	OMIM	310	pfam00300	50593010,NP_000281
5224	130353	Disease	p.Arg90Trp	612931.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612931	GLYCOGEN STORAGE DISEASE X	OMIM	634	smart00855	50593010,NP_000281
5224	130353	Disease	p.Gly97Asp	612931.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612931	GLYCOGEN STORAGE DISEASE X	OMIM	156	COG0588	50593010,NP_000281
5224	130353	Disease	p.Gly97Asp	612931.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612931	GLYCOGEN STORAGE DISEASE X	OMIM	128	COG0406	50593010,NP_000281
5224	130353	Disease	p.Gly97Asp	612931.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612931	GLYCOGEN STORAGE DISEASE X	OMIM	189	cd07067	50593010,NP_000281
5224	130353	Disease	p.Gly97Asp	612931.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612931	GLYCOGEN STORAGE DISEASE X	OMIM	301	cd07040	50593010,NP_000281
5224	130353	Disease	p.Gly97Asp	612931.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612931	GLYCOGEN STORAGE DISEASE X	OMIM	328	pfam00300	50593010,NP_000281
5224	130353	Disease	p.Gly97Asp	612931.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612931	GLYCOGEN STORAGE DISEASE X	OMIM	642	smart00855	50593010,NP_000281
25915	41327783	Disease	p.Gly77Arg	612911.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	95	COG3737	NULL
25915	41327783	Disease	p.Gly77Arg	612911.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	120	cd05125	NULL
25915	41327783	Disease	p.Gly77Arg	612911.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	165	pfam04430	NULL
25915	41327783	Disease	p.Gly77Arg	612911.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	123	cd05560	NULL
25915	41327783	Disease	p.Gly77Arg	612911.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	90	cd00248	NULL
25915	41327787	Disease	p.Gly77Arg	612911.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	95	COG3737	NULL
25915	41327787	Disease	p.Gly77Arg	612911.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	120	cd05125	NULL
25915	41327787	Disease	p.Gly77Arg	612911.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	165	pfam04430	NULL
25915	41327787	Disease	p.Gly77Arg	612911.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	123	cd05560	NULL
25915	41327787	Disease	p.Gly77Arg	612911.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	90	cd00248	NULL
25915	41327785	Disease	p.Gly77Arg	612911.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	95	COG3737	NULL
25915	41327785	Disease	p.Gly77Arg	612911.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	120	cd05125	NULL
25915	41327785	Disease	p.Gly77Arg	612911.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	165	pfam04430	NULL
25915	41327785	Disease	p.Gly77Arg	612911.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	123	cd05560	NULL
25915	41327785	Disease	p.Gly77Arg	612911.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	90	cd00248	NULL
25915	74733183	Disease	p.Gly77Arg	612911.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	41	cd05560	41327781,NP_951032
25915	74733183	Disease	p.Gly77Arg	612911.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	20	cd00248	41327781,NP_951032
25915	74733183	Disease	p.Gly77Arg	612911.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	39	pfam04430	41327781,NP_951032
25915	74733183	Disease	p.Gly77Arg	612911.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	37	COG3737	41327781,NP_951032
25915	74733183	Disease	p.Gly77Arg	612911.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	39	cd05125	41327781,NP_951032
25915	41327783	Disease	p.Arg122Pro	612911.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	No Domain	N/A	NULL
25915	41327787	Disease	p.Arg122Pro	612911.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	No Domain	N/A	NULL
25915	41327785	Disease	p.Arg122Pro	612911.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	No Domain	N/A	NULL
25915	74733183	Disease	p.Arg122Pro	612911.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	111	cd05560	41327781,NP_951032
25915	74733183	Disease	p.Arg122Pro	612911.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	77	cd00248	41327781,NP_951032
25915	74733183	Disease	p.Arg122Pro	612911.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	148	pfam04430	41327781,NP_951032
25915	74733183	Disease	p.Arg122Pro	612911.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	83	COG3737	41327781,NP_951032
25915	74733183	Disease	p.Arg122Pro	612911.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	102	cd05125	41327781,NP_951032
25915	41327783	Disease	p.Met1Thr	612911.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	No Domain	N/A	NULL
25915	41327787	Disease	p.Met1Thr	612911.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	No Domain	N/A	NULL
25915	41327785	Disease	p.Met1Thr	612911.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	No Domain	N/A	NULL
25915	74733183	Disease	p.Met1Thr	612911.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612911	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	No Domain	N/A	41327781,NP_951032
203068	56757569	Disease	p.Arg318Trp	612901.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612901	MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED	OMIM	127	smart00865	29788785,NP_821133
203068	56757569	Disease	p.Arg318Trp	612901.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612901	MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED	OMIM	331	COG5023	29788785,NP_821133
203068	56757569	Disease	p.Arg318Trp	612901.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612901	MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED	OMIM	75	pfam03953	29788785,NP_821133
203068	56757569	Disease	p.Arg318Trp	612901.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612901	MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED	OMIM	492	cd00286	29788785,NP_821133
203068	56757569	Disease	p.Arg318Trp	612901.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612901	MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED	OMIM	610	cd06059	29788785,NP_821133
203068	56757569	Disease	p.Arg318Trp	612901.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612901	MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED	OMIM	841	cd02189	29788785,NP_821133
203068	56757569	Disease	p.Arg318Trp	612901.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612901	MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED	OMIM	326	cd02187	29788785,NP_821133
203068	56757569	Disease	p.Arg318Trp	612901.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612901	MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED	OMIM	332	cd02186	29788785,NP_821133
203068	56757569	Disease	p.Arg318Trp	612901.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612901	MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED	OMIM	387	cd02190	29788785,NP_821133
203068	56757569	Disease	p.Arg318Trp	612901.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612901	MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED	OMIM	400	cd02188	29788785,NP_821133
347733	74761283	Disease	p.Ser172Pro	612850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	285	pfam00091	29788768,NP_821080
347733	74761283	Disease	p.Ser172Pro	612850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	180	COG5023	29788768,NP_821080
347733	74761283	Disease	p.Ser172Pro	612850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	277	smart00864	29788768,NP_821080
347733	74761283	Disease	p.Ser172Pro	612850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	261	cd00286	29788768,NP_821080
347733	74761283	Disease	p.Ser172Pro	612850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	473	cd02189	29788768,NP_821080
347733	74761283	Disease	p.Ser172Pro	612850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	301	cd06059	29788768,NP_821080
347733	74761283	Disease	p.Ser172Pro	612850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	179	cd02187	29788768,NP_821080
347733	74761283	Disease	p.Ser172Pro	612850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	184	cd02190	29788768,NP_821080
347733	74761283	Disease	p.Ser172Pro	612850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	185	cd02186	29788768,NP_821080
347733	74761283	Disease	p.Ser172Pro	612850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	203	cd02188	29788768,NP_821080
347733	74761283	Disease	p.Leu228Pro	612850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	237	COG5023	29788768,NP_821080
347733	74761283	Disease	p.Leu228Pro	612850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	365	smart00864	29788768,NP_821080
347733	74761283	Disease	p.Leu228Pro	612850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	347	cd00286	29788768,NP_821080
347733	74761283	Disease	p.Leu228Pro	612850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	537	cd02189	29788768,NP_821080
347733	74761283	Disease	p.Leu228Pro	612850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	388	cd06059	29788768,NP_821080
347733	74761283	Disease	p.Leu228Pro	612850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	236	cd02187	29788768,NP_821080
347733	74761283	Disease	p.Leu228Pro	612850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	286	cd02190	29788768,NP_821080
347733	74761283	Disease	p.Leu228Pro	612850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	241	cd02186	29788768,NP_821080
347733	74761283	Disease	p.Leu228Pro	612850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	269	cd02188	29788768,NP_821080
347733	74761283	Disease	p.Phe265Leu	612850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	21	smart00865	29788768,NP_821080
347733	74761283	Disease	p.Phe265Leu	612850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	274	COG5023	29788768,NP_821080
347733	74761283	Disease	p.Phe265Leu	612850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	5	pfam03953	29788768,NP_821080
347733	74761283	Disease	p.Phe265Leu	612850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	395	cd00286	29788768,NP_821080
347733	74761283	Disease	p.Phe265Leu	612850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	672	cd02189	29788768,NP_821080
347733	74761283	Disease	p.Phe265Leu	612850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	530	cd06059	29788768,NP_821080
347733	74761283	Disease	p.Phe265Leu	612850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	273	cd02187	29788768,NP_821080
347733	74761283	Disease	p.Phe265Leu	612850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	323	cd02190	29788768,NP_821080
347733	74761283	Disease	p.Phe265Leu	612850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	278	cd02186	29788768,NP_821080
347733	74761283	Disease	p.Phe265Leu	612850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612850	POLYMICROGYRIA, ASYMMETRIC	OMIM	316	cd02188	29788768,NP_821080
644096	111038124	Disease	p.Gly57Arg	612848.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612848	MITOCHONDRIAL COMPLEX II DEFICIENCY	OMIM	149	pfam05347	NULL
644096	111038124	Disease	p.Arg55Pro	612848.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612848	MITOCHONDRIAL COMPLEX II DEFICIENCY	OMIM	147	pfam05347	NULL
1806	160332325	Disease	p.Asp974Val	612779.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612779	5-@FLUOROURACIL TOXICITY	OMIM	55	COG1144	119943098,NP_000101
1806	160332325	Disease	p.Asp974Val	612779.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612779	5-@FLUOROURACIL TOXICITY	OMIM	47	COG1146	119943098,NP_000101
1806	237757300	Disease	p.Asp974Val	612779.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612779	5-@FLUOROURACIL TOXICITY	OMIM	No Domain	N/A	NULL
1806	160332325	Disease	p.Cys29Arg	612779.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612779	DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY	OMIM	No Domain	N/A	119943098,NP_000101
1806	237757300	Disease	p.Cys29Arg	612779.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612779	DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY	OMIM	No Domain	N/A	NULL
1806	160332325	Disease	p.Arg886His	612779.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612779	DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY	OMIM	No Domain	N/A	119943098,NP_000101
1806	237757300	Disease	p.Arg886His	612779.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612779	DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY	OMIM	No Domain	N/A	NULL
587	258614015	Disease	p.His77Arg	612773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612773	LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)	OMIM	105	COG0115	NULL
587	258614015	Disease	p.His77Arg	612773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612773	LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)	OMIM	89	cd01557	NULL
587	258614015	Disease	p.His77Arg	612773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612773	LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)	OMIM	77	cd01559	NULL
587	258614015	Disease	p.His77Arg	612773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612773	LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)	OMIM	89	cd00449	NULL
587	258614015	Disease	p.His77Arg	612773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612773	LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)	OMIM	100	cd01558	NULL
587	258614015	Disease	p.His77Arg	612773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612773	LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)	OMIM	77	pfam01063	NULL
587	20455470	Disease	p.His77Arg	612773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612773	LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)	OMIM	3	cd01558	50658084,NP_001181
587	20455470	Disease	p.His77Arg	612773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612773	LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)	OMIM	7	COG0115	50658084,NP_001181
587	258614015	Disease	p.Thr539Ala	612773.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612773	AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b)	OMIM	No Domain	N/A	NULL
587	20455470	Disease	p.Thr539Ala	612773.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612773	AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b)	OMIM	No Domain	N/A	50658084,NP_001181
147372	74738220	Disease	p.Cys75Ser	612753.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612753	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME	OMIM	No Domain	N/A	39930511,NP_597716
147372	74738220	Disease	p.Cys102Ser	612753.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612753	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME	OMIM	No Domain	N/A	39930511,NP_597716
147372	74738220	Disease	p.Gly237Arg	612753.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612753	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME	OMIM	No Domain	N/A	39930511,NP_597716
147372	74738220	Disease	p.Arg158Cys	612753.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612753	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME	OMIM	50	cd00053	39930511,NP_597716
147372	74738220	Disease	p.Arg158Cys	612753.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612753	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME	OMIM	49	smart00181	39930511,NP_597716
147372	74738220	Disease	p.Arg158Cys	612753.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612753	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME	OMIM	31	pfam07645	39930511,NP_597716
147372	74738220	Disease	p.Arg158Cys	612753.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612753	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME	OMIM	47	smart00179	39930511,NP_597716
147372	74738220	Disease	p.Arg158Cys	612753.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612753	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME	OMIM	52	cd00054	39930511,NP_597716
147372	74738220	Disease	p.Cys174Arg	612753.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612753	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME	OMIM	85	cd00053	39930511,NP_597716
147372	74738220	Disease	p.Cys174Arg	612753.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612753	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME	OMIM	82	smart00181	39930511,NP_597716
147372	74738220	Disease	p.Cys174Arg	612753.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612753	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME	OMIM	83	smart00179	39930511,NP_597716
147372	74738220	Disease	p.Cys174Arg	612753.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612753	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME	OMIM	89	cd00054	39930511,NP_597716
1371	67476671	Disease	p.Arg331Trp	612732.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612732	COPROPORPHYRIA	OMIM	263	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.Arg331Trp	612732.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612732	COPROPORPHYRIA	OMIM	219	COG0408	41393599,NP_000088
1371	67476671	Disease	p.Lys404Glu	612732.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612732	HARDEROPORPHYRIA	OMIM	352	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.Lys404Glu	612732.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612732	HARDEROPORPHYRIA	OMIM	318	COG0408	41393599,NP_000088
1371	67476671	Disease	p.His295Asp	612732.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612732	COPROPORPHYRIA	OMIM	226	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.His295Asp	612732.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612732	COPROPORPHYRIA	OMIM	182	COG0408	41393599,NP_000088
1371	67476671	Disease	p.Arg447Cys	612732.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612732	COPROPORPHYRIA	OMIM	396	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.Arg447Cys	612732.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612732	COPROPORPHYRIA	OMIM	361	COG0408	41393599,NP_000088
1371	67476671	Disease	p.Ser208Phe	612732.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612732	COPROPORPHYRIA	OMIM	93	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.Ser208Phe	612732.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612732	COPROPORPHYRIA	OMIM	80	COG0408	41393599,NP_000088
1371	67476671	Disease	p.Arg328Cys	612732.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612732	COPROPORPHYRIA	OMIM	260	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.Arg328Cys	612732.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612732	COPROPORPHYRIA	OMIM	216	COG0408	41393599,NP_000088
1371	67476671	Disease	p.Gly279Arg	612732.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612732	COPROPORPHYRIA, DIGENIC	OMIM	205	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.Gly279Arg	612732.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612732	COPROPORPHYRIA, DIGENIC	OMIM	161	COG0408	41393599,NP_000088
229	113611	Disease	p.Ala149Pro	612724.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612724	FRUCTOSE INTOLERANCE	OMIM	147	cd00344	40354205,NP_000026
229	113611	Disease	p.Ala149Pro	612724.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612724	FRUCTOSE INTOLERANCE	OMIM	140	cd00948	40354205,NP_000026
229	113611	Disease	p.Ala149Pro	612724.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612724	FRUCTOSE INTOLERANCE	OMIM	149	COG3588	40354205,NP_000026
229	113611	Disease	p.Ala149Pro	612724.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612724	FRUCTOSE INTOLERANCE	OMIM	175	pfam00274	40354205,NP_000026
229	113611	Disease	p.Ala174Asp	612724.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612724	FRUCTOSE INTOLERANCE	OMIM	172	cd00344	40354205,NP_000026
229	113611	Disease	p.Ala174Asp	612724.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612724	FRUCTOSE INTOLERANCE	OMIM	167	cd00948	40354205,NP_000026
229	113611	Disease	p.Ala174Asp	612724.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612724	FRUCTOSE INTOLERANCE	OMIM	176	COG3588	40354205,NP_000026
229	113611	Disease	p.Ala174Asp	612724.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612724	FRUCTOSE INTOLERANCE	OMIM	207	pfam00274	40354205,NP_000026
229	113611	Disease	p.Asn334Lys	612724.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612724	FRUCTOSE INTOLERANCE	OMIM	332	cd00344	40354205,NP_000026
229	113611	Disease	p.Asn334Lys	612724.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612724	FRUCTOSE INTOLERANCE	OMIM	329	cd00948	40354205,NP_000026
229	113611	Disease	p.Asn334Lys	612724.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612724	FRUCTOSE INTOLERANCE	OMIM	340	COG3588	40354205,NP_000026
229	113611	Disease	p.Asn334Lys	612724.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612724	FRUCTOSE INTOLERANCE	OMIM	390	pfam00274	40354205,NP_000026
229	113611	Disease	p.Trp147Arg	612724.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612724	FRUCTOSE INTOLERANCE	OMIM	145	cd00344	40354205,NP_000026
229	113611	Disease	p.Trp147Arg	612724.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612724	FRUCTOSE INTOLERANCE	OMIM	138	cd00948	40354205,NP_000026
229	113611	Disease	p.Trp147Arg	612724.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612724	FRUCTOSE INTOLERANCE	OMIM	147	COG3588	40354205,NP_000026
229	113611	Disease	p.Trp147Arg	612724.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612724	FRUCTOSE INTOLERANCE	OMIM	173	pfam00274	40354205,NP_000026
5805	417553	Disease	p.Arg25Gln	612719.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	OMIM	15	cd00470	4506331,NP_000308
5805	417553	Disease	p.Arg25Gln	612719.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	OMIM	15	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Arg25Gln	612719.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	OMIM	15	cd00651	4506331,NP_000308
5805	417553	Disease	p.Arg25Gln	612719.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	OMIM	16	COG0720	4506331,NP_000308
5805	417553	Disease	p.Arg16Cys	612719.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY	OMIM	6	cd00470	4506331,NP_000308
5805	417553	Disease	p.Arg16Cys	612719.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY	OMIM	4	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Arg16Cys	612719.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY	OMIM	4	cd00651	4506331,NP_000308
5805	417553	Disease	p.Arg16Cys	612719.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY	OMIM	7	COG0720	4506331,NP_000308
5805	417553	Disease	p.Asn52Ser	612719.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	OMIM	42	cd00470	4506331,NP_000308
5805	417553	Disease	p.Asn52Ser	612719.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	OMIM	89	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Asn52Ser	612719.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	OMIM	42	cd00651	4506331,NP_000308
5805	417553	Disease	p.Asn52Ser	612719.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	OMIM	48	COG0720	4506331,NP_000308
5805	417553	Disease	p.Pro87Ser	612719.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	OMIM	77	cd00470	4506331,NP_000308
5805	417553	Disease	p.Pro87Ser	612719.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	OMIM	157	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Pro87Ser	612719.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	OMIM	85	cd00651	4506331,NP_000308
5805	417553	Disease	p.Pro87Ser	612719.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	OMIM	89	COG0720	4506331,NP_000308
5805	417553	Disease	p.Val56Met	612719.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	OMIM	46	cd00470	4506331,NP_000308
5805	417553	Disease	p.Val56Met	612719.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	OMIM	93	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Val56Met	612719.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	OMIM	46	cd00651	4506331,NP_000308
5805	417553	Disease	p.Val56Met	612719.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	OMIM	52	COG0720	4506331,NP_000308
5805	417553	Disease	p.Asn47Asp	612719.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY	OMIM	37	cd00470	4506331,NP_000308
5805	417553	Disease	p.Asn47Asp	612719.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY	OMIM	77	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Asn47Asp	612719.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY	OMIM	37	cd00651	4506331,NP_000308
5805	417553	Disease	p.Asn47Asp	612719.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY	OMIM	43	COG0720	4506331,NP_000308
5805	417553	Disease	p.Asp116Gly	612719.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY	OMIM	106	cd00470	4506331,NP_000308
5805	417553	Disease	p.Asp116Gly	612719.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY	OMIM	396	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Asp116Gly	612719.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY	OMIM	114	cd00651	4506331,NP_000308
5805	417553	Disease	p.Asp116Gly	612719.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY	OMIM	139	COG0720	4506331,NP_000308
5805	417553	Disease	p.Asp96Asn	612719.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	OMIM	86	cd00470	4506331,NP_000308
5805	417553	Disease	p.Asp96Asn	612719.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	OMIM	208	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Asp96Asn	612719.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	OMIM	94	cd00651	4506331,NP_000308
5805	417553	Disease	p.Asp96Asn	612719.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612719	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A	OMIM	97	COG0720	4506331,NP_000308
5860	118572639	Disease	p.Gly23Asp	612676.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612676	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C	OMIM	23	COG1028	208973246,NP_000311
5860	118572639	Disease	p.Trp108Gly	612676.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612676	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C	OMIM	258	COG1028	208973246,NP_000311
5860	118572639	Disease	p.Trp36Arg	612676.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612676	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C	OMIM	43	COG1028	208973246,NP_000311
5860	118572639	Disease	p.Tyr150Cys	612676.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612676	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C	OMIM	479	COG1028	208973246,NP_000311
222546	166225159	Disease	p.Ser217Pro	612659.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612659	DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA	OMIM	No Domain	N/A	258547126,NP_775831
222546	166225159	Disease	p.Arg181Gln	612659.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612659	DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA	OMIM	94	pfam02257	258547126,NP_775831
2201	238054385	Disease	p.Cys1252Tyr	612570.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	24	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Cys1252Tyr	612570.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	24	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Cys1252Tyr	612570.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	13	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Cys1252Tyr	612570.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	16	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Cys1252Tyr	612570.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	18	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Glu390Lys	612570.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	21	pfam00683	66346695,NP_001990
2201	238054385	Disease	p.Val964Ile	612570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	8	pfam00008	66346695,NP_001990
2201	238054385	Disease	p.Val964Ile	612570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	23	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Val964Ile	612570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	23	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Val964Ile	612570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	12	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Val964Ile	612570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	17	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Val964Ile	612570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	15	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Asp1114His	612570.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	No Domain	N/A	66346695,NP_001990
2201	238054385	Disease	p.Cys1141Phe	612570.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	49	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Cys1141Phe	612570.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	54	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Cys1141Phe	612570.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	33	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Cys1141Phe	612570.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	56	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Cys1141Phe	612570.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	52	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Cys1252Trp	612570.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	24	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Cys1252Trp	612570.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	24	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Cys1252Trp	612570.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	13	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Cys1252Trp	612570.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	16	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Cys1252Trp	612570.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612570	CONTRACTURAL ARACHNODACTYLY, CONGENITAL	OMIM	18	cd00053	66346695,NP_001990
220074	223718151	Disease	p.Arg81Gln	612414.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	No Domain	N/A	NULL
220074	223718169	Disease	p.Arg81Gln	612414.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	65	COG4122	NULL
220074	223718169	Disease	p.Arg81Gln	612414.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	38	pfam01596	NULL
220074	226693615	Disease	p.Arg81Gln	612414.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	11	COG4122	223718164,NP_001138781|223718159,NP_001138780
220074	74760801	Disease	p.Arg81Gln	612414.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	No Domain	N/A	21687175,NP_660352
220074	226693615	Disease	p.Arg81Gln	612414.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	11	COG4122	223718164,NP_001138781|223718159,NP_001138780
220074	223718151	Disease	p.Trp105Arg	612414.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	No Domain	N/A	NULL
220074	223718169	Disease	p.Trp105Arg	612414.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	92	COG4122	NULL
220074	223718169	Disease	p.Trp105Arg	612414.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	12	cd02440	NULL
220074	223718169	Disease	p.Trp105Arg	612414.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	62	pfam01596	NULL
220074	226693615	Disease	p.Trp105Arg	612414.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	20	pfam01596	223718164,NP_001138781|223718159,NP_001138780
220074	226693615	Disease	p.Trp105Arg	612414.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	35	COG4122	223718164,NP_001138781|223718159,NP_001138780
220074	74760801	Disease	p.Trp105Arg	612414.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	No Domain	N/A	21687175,NP_660352
220074	226693615	Disease	p.Trp105Arg	612414.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	20	pfam01596	223718164,NP_001138781|223718159,NP_001138780
220074	226693615	Disease	p.Trp105Arg	612414.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	35	COG4122	223718164,NP_001138781|223718159,NP_001138780
220074	223718151	Disease	p.Glu110Lys	612414.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	No Domain	N/A	NULL
220074	223718169	Disease	p.Glu110Lys	612414.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	97	COG4122	NULL
220074	223718169	Disease	p.Glu110Lys	612414.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	17	cd02440	NULL
220074	223718169	Disease	p.Glu110Lys	612414.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	67	pfam01596	NULL
220074	226693615	Disease	p.Glu110Lys	612414.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	25	pfam01596	223718164,NP_001138781|223718159,NP_001138780
220074	226693615	Disease	p.Glu110Lys	612414.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	40	COG4122	223718164,NP_001138781|223718159,NP_001138780
220074	74760801	Disease	p.Glu110Lys	612414.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	No Domain	N/A	21687175,NP_660352
220074	226693615	Disease	p.Glu110Lys	612414.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	25	pfam01596	223718164,NP_001138781|223718159,NP_001138780
220074	226693615	Disease	p.Glu110Lys	612414.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612414	DEAFNESS, AUTOSOMAL RECESSIVE 63	OMIM	40	COG4122	223718164,NP_001138781|223718159,NP_001138780
137682	182676420	Disease	p.Gln99Arg	612392.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612392	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	43	cd00683	124517691,NP_689629
137682	182676420	Disease	p.Gln99Arg	612392.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612392	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	52	COG1562	124517691,NP_689629
137682	182676420	Disease	p.Gln99Arg	612392.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612392	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	38	pfam00494	124517691,NP_689629
2235	60499025	Disease	p.Gly55Cys	612386.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
2235	85701348	Disease	p.Gly55Cys	612386.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	60499021,NP_000131
2235	60499025	Disease	p.Met267Ile	612386.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE	OMIM	386	pfam00762	NULL
2235	60499025	Disease	p.Met267Ile	612386.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE	OMIM	42	cd00419	NULL
2235	60499025	Disease	p.Met267Ile	612386.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE	OMIM	216	COG0276	NULL
2235	60499025	Disease	p.Met267Ile	612386.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE	OMIM	5	cd03409	NULL
2235	85701348	Disease	p.Met267Ile	612386.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE	OMIM	222	COG0276	60499021,NP_000131
2235	85701348	Disease	p.Met267Ile	612386.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE	OMIM	392	pfam00762	60499021,NP_000131
2235	85701348	Disease	p.Met267Ile	612386.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE	OMIM	11	cd03409	60499021,NP_000131
2235	85701348	Disease	p.Met267Ile	612386.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE	OMIM	49	cd00419	60499021,NP_000131
2235	60499025	Disease	p.Phe417Ser	612386.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC	OMIM	No Domain	N/A	NULL
2235	85701348	Disease	p.Phe417Ser	612386.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC	OMIM	No Domain	N/A	60499021,NP_000131
2235	60499025	Disease	p.Val363Gly	612386.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE	OMIM	684	pfam00762	NULL
2235	60499025	Disease	p.Val363Gly	612386.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE	OMIM	229	cd00419	NULL
2235	60499025	Disease	p.Val363Gly	612386.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE	OMIM	340	COG0276	NULL
2235	60499025	Disease	p.Val363Gly	612386.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE	OMIM	157	cd03409	NULL
2235	85701348	Disease	p.Val363Gly	612386.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE	OMIM	346	COG0276	60499021,NP_000131
2235	85701348	Disease	p.Val363Gly	612386.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE	OMIM	690	pfam00762	60499021,NP_000131
2235	85701348	Disease	p.Val363Gly	612386.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE	OMIM	176	cd03409	60499021,NP_000131
2235	85701348	Disease	p.Val363Gly	612386.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE	OMIM	238	cd00419	60499021,NP_000131
2235	60499025	Disease	p.Cys411Gly	612386.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC	OMIM	No Domain	N/A	NULL
2235	85701348	Disease	p.Cys411Gly	612386.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612386	PROTOPORPHYRIA, ERYTHROPOIETIC	OMIM	No Domain	N/A	60499021,NP_000131
55315	148596922	Disease	p.Gly427Ser	612373.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612373	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY, HEART ANOMALIES, HEARING LOSS, AND HYPOGONADISM	OMIM	312	pfam01733	NULL
55315	291575131	Disease	p.Gly427Ser	612373.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612373	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY, HEART ANOMALIES, HEARING LOSS, AND HYPOGONADISM	OMIM	No Domain	N/A	NULL
55315	148596922	Disease	p.Gly437Arg	612373.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612373	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY, HEART ANOMALIES, HEARING LOSS, AND HYPOGONADISM||PIGMENTED HYPERTRICHOSIS AND INSULIN-DEPENDENT DIABETES MELLITUS	OMIM	322	pfam01733	NULL
55315	291575131	Disease	p.Gly437Arg	612373.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612373	HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY, HEART ANOMALIES, HEARING LOSS, AND HYPOGONADISM||PIGMENTED HYPERTRICHOSIS AND INSULIN-DEPENDENT DIABETES MELLITUS	OMIM	No Domain	N/A	NULL
55315	148596922	Disease	p.Met116Arg	612373.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612373	PIGMENTED HYPERTROPHIC DERMATOSIS WITH INSULIN-DEPENDENT DIABETES	OMIM	No Domain	N/A	NULL
55315	291575131	Disease	p.Met116Arg	612373.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612373	PIGMENTED HYPERTROPHIC DERMATOSIS WITH INSULIN-DEPENDENT DIABETES	OMIM	No Domain	N/A	NULL
55315	148596922	Disease	p.Thr449Arg	612373.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612373	PIGMENTED HYPERTROPHIC DERMATOSIS WITH INSULIN-DEPENDENT DIABETES	OMIM	335	pfam01733	NULL
55315	291575131	Disease	p.Thr449Arg	612373.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612373	PIGMENTED HYPERTROPHIC DERMATOSIS WITH INSULIN-DEPENDENT DIABETES	OMIM	No Domain	N/A	NULL
79133	86792933	Disease	p.Leu229Pro	612360.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612360	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	No Domain	N/A	NULL
79133	74762247	Disease	p.Leu229Pro	612360.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612360	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	502	COG0500	40018642,NP_077025
79133	86792933	Disease	p.Leu159Phe	612360.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612360	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	No Domain	N/A	NULL
79133	74762247	Disease	p.Leu159Phe	612360.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612360	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	206	cd02440	40018642,NP_077025
79133	74762247	Disease	p.Leu159Phe	612360.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612360	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	314	COG0500	40018642,NP_077025
79133	74762247	Disease	p.Leu159Phe	612360.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612360	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	127	pfam08241	40018642,NP_077025
79133	74762247	Disease	p.Leu159Phe	612360.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612360	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	125	pfam08242	40018642,NP_077025
5053	129973	Disease	p.Arg408Trp	612349.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	289	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg408Trp	612349.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	290	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg408Trp	612349.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	294	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg408Trp	612349.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	294	COG3186	4557819,NP_000268
5053	129973	Disease	p.Leu311Pro	612349.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	192	cd03345	4557819,NP_000268
5053	129973	Disease	p.Leu311Pro	612349.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	193	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Leu311Pro	612349.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	197	cd03347	4557819,NP_000268
5053	129973	Disease	p.Leu311Pro	612349.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	193	cd03346	4557819,NP_000268
5053	129973	Disease	p.Leu311Pro	612349.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	178	COG3186	4557819,NP_000268
5053	129973	Disease	p.Leu311Pro	612349.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	166	cd03348	4557819,NP_000268
5053	129973	Disease	p.Leu311Pro	612349.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	163	cd00361	4557819,NP_000268
5053	129973	Disease	p.Glu280Lys	612349.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	161	cd03345	4557819,NP_000268
5053	129973	Disease	p.Glu280Lys	612349.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	162	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Glu280Lys	612349.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	166	cd03347	4557819,NP_000268
5053	129973	Disease	p.Glu280Lys	612349.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	162	cd03346	4557819,NP_000268
5053	129973	Disease	p.Glu280Lys	612349.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	146	COG3186	4557819,NP_000268
5053	129973	Disease	p.Glu280Lys	612349.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	135	cd03348	4557819,NP_000268
5053	129973	Disease	p.Glu280Lys	612349.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	132	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg261Gln	612349.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	142	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg261Gln	612349.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	143	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg261Gln	612349.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	147	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg261Gln	612349.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	143	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg261Gln	612349.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	127	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg261Gln	612349.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	116	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg261Gln	612349.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	113	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg252Trp	612349.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	133	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg252Trp	612349.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	134	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg252Trp	612349.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	138	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg252Trp	612349.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	134	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg252Trp	612349.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	118	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg252Trp	612349.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	82	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg252Trp	612349.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	79	cd00361	4557819,NP_000268
5053	129973	Disease	p.Met1Val	612349.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA||HYPERPHENYLALANINEMIA, NON-PKU	OMIM	No Domain	N/A	4557819,NP_000268
5053	129973	Disease	p.Arg158Gln	612349.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	39	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg158Gln	612349.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	40	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg158Gln	612349.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	44	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg158Gln	612349.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	40	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg158Gln	612349.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	22	COG3186	4557819,NP_000268
5053	129973	Disease	p.Pro281Leu	612349.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	162	cd03345	4557819,NP_000268
5053	129973	Disease	p.Pro281Leu	612349.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	163	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Pro281Leu	612349.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	167	cd03347	4557819,NP_000268
5053	129973	Disease	p.Pro281Leu	612349.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	163	cd03346	4557819,NP_000268
5053	129973	Disease	p.Pro281Leu	612349.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	147	COG3186	4557819,NP_000268
5053	129973	Disease	p.Pro281Leu	612349.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	136	cd03348	4557819,NP_000268
5053	129973	Disease	p.Pro281Leu	612349.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	133	cd00361	4557819,NP_000268
5053	129973	Disease	p.Tyr204Cys	612349.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	85	cd03345	4557819,NP_000268
5053	129973	Disease	p.Tyr204Cys	612349.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	86	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Tyr204Cys	612349.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	90	cd03347	4557819,NP_000268
5053	129973	Disease	p.Tyr204Cys	612349.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	86	cd03346	4557819,NP_000268
5053	129973	Disease	p.Tyr204Cys	612349.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	74	COG3186	4557819,NP_000268
5053	129973	Disease	p.Tyr204Cys	612349.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	36	cd03348	4557819,NP_000268
5053	129973	Disease	p.Tyr204Cys	612349.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	30	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	612349.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	124	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	612349.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	125	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	612349.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	129	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	612349.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	125	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	612349.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	109	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	612349.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	72	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	612349.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	69	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg413Pro	612349.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	294	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg413Pro	612349.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	295	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg413Pro	612349.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	299	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg413Pro	612349.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	299	COG3186	4557819,NP_000268
5053	129973	Disease	p.Tyr414Cys	612349.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	295	cd03345	4557819,NP_000268
5053	129973	Disease	p.Tyr414Cys	612349.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	296	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Tyr414Cys	612349.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	300	cd03347	4557819,NP_000268
5053	129973	Disease	p.Tyr414Cys	612349.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	301	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ser273Phe	612349.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	154	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ser273Phe	612349.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	155	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ser273Phe	612349.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	159	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ser273Phe	612349.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	155	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ser273Phe	612349.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	139	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ser273Phe	612349.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	128	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ser273Phe	612349.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	125	cd00361	4557819,NP_000268
79742	193804856	Disease	p.Ser273Phe	612349.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	MOVED TO 612349.0018	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Ser273Phe	612349.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	MOVED TO 612349.0018	OMIM	No Domain	N/A	193804854,NP_789789
5053	129973	Disease	p.Leu255Ser	612349.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	136	cd03345	4557819,NP_000268
5053	129973	Disease	p.Leu255Ser	612349.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	137	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Leu255Ser	612349.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	141	cd03347	4557819,NP_000268
5053	129973	Disease	p.Leu255Ser	612349.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	137	cd03346	4557819,NP_000268
5053	129973	Disease	p.Leu255Ser	612349.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	121	COG3186	4557819,NP_000268
5053	129973	Disease	p.Leu255Ser	612349.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	85	cd03348	4557819,NP_000268
5053	129973	Disease	p.Leu255Ser	612349.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	82	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ala259Val	612349.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	140	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ala259Val	612349.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	141	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ala259Val	612349.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	145	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ala259Val	612349.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	141	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ala259Val	612349.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	125	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ala259Val	612349.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	89	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ala259Val	612349.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	86	cd00361	4557819,NP_000268
5053	129973	Disease	p.Tyr277Asp	612349.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	158	cd03345	4557819,NP_000268
5053	129973	Disease	p.Tyr277Asp	612349.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	159	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Tyr277Asp	612349.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	163	cd03347	4557819,NP_000268
5053	129973	Disease	p.Tyr277Asp	612349.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	159	cd03346	4557819,NP_000268
5053	129973	Disease	p.Tyr277Asp	612349.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	143	COG3186	4557819,NP_000268
5053	129973	Disease	p.Tyr277Asp	612349.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	132	cd03348	4557819,NP_000268
5053	129973	Disease	p.Tyr277Asp	612349.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	129	cd00361	4557819,NP_000268
5053	129973	Disease	p.Phe39Leu	612349.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	5	cd04929	4557819,NP_000268
5053	129973	Disease	p.Phe39Leu	612349.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	5	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Phe39Leu	612349.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	5	cd04904	4557819,NP_000268
5053	129973	Disease	p.Phe39Leu	612349.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	19	cd04931	4557819,NP_000268
5053	129973	Disease	p.Phe39Leu	612349.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	4	cd04880	4557819,NP_000268
5053	129973	Disease	p.Phe39Leu	612349.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	6	cd04905	4557819,NP_000268
5053	129973	Disease	p.Phe39Leu	612349.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	3	cd02116	4557819,NP_000268
5053	129973	Disease	p.Ser349Arg	612349.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	230	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ser349Arg	612349.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	231	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ser349Arg	612349.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	235	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ser349Arg	612349.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	244	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ser349Arg	612349.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	232	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ser349Arg	612349.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	208	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ser349Arg	612349.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	259	cd00361	4557819,NP_000268
5053	129973	Disease	p.Leu48Ser	612349.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	14	cd04929	4557819,NP_000268
5053	129973	Disease	p.Leu48Ser	612349.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	20	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Leu48Ser	612349.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	17	cd04904	4557819,NP_000268
5053	129973	Disease	p.Leu48Ser	612349.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	28	cd04931	4557819,NP_000268
5053	129973	Disease	p.Leu48Ser	612349.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	16	cd04880	4557819,NP_000268
5053	129973	Disease	p.Leu48Ser	612349.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	18	cd04905	4557819,NP_000268
5053	129973	Disease	p.Leu48Ser	612349.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	16	cd02116	4557819,NP_000268
5053	129973	Disease	p.Glu221Gly	612349.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	102	cd03345	4557819,NP_000268
5053	129973	Disease	p.Glu221Gly	612349.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	103	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Glu221Gly	612349.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	107	cd03347	4557819,NP_000268
5053	129973	Disease	p.Glu221Gly	612349.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	103	cd03346	4557819,NP_000268
5053	129973	Disease	p.Glu221Gly	612349.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	87	COG3186	4557819,NP_000268
5053	129973	Disease	p.Glu221Gly	612349.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	50	cd03348	4557819,NP_000268
5053	129973	Disease	p.Glu221Gly	612349.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	47	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg408Gln	612349.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	289	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg408Gln	612349.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	290	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg408Gln	612349.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	294	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg408Gln	612349.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	294	COG3186	4557819,NP_000268
5053	129973	Disease	p.Phe299Cys	612349.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	180	cd03345	4557819,NP_000268
5053	129973	Disease	p.Phe299Cys	612349.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	181	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Phe299Cys	612349.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	185	cd03347	4557819,NP_000268
5053	129973	Disease	p.Phe299Cys	612349.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	181	cd03346	4557819,NP_000268
5053	129973	Disease	p.Phe299Cys	612349.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	165	COG3186	4557819,NP_000268
5053	129973	Disease	p.Phe299Cys	612349.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	154	cd03348	4557819,NP_000268
5053	129973	Disease	p.Phe299Cys	612349.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	151	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ser349Pro	612349.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	230	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ser349Pro	612349.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	231	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ser349Pro	612349.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	235	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ser349Pro	612349.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	244	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ser349Pro	612349.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	232	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ser349Pro	612349.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	208	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ser349Pro	612349.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	259	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ala322Gly	612349.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU MILD	OMIM	203	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ala322Gly	612349.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU MILD	OMIM	204	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ala322Gly	612349.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU MILD	OMIM	208	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ala322Gly	612349.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU MILD	OMIM	204	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ala322Gly	612349.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU MILD	OMIM	204	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ala322Gly	612349.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU MILD	OMIM	180	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ala322Gly	612349.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU MILD	OMIM	219	cd00361	4557819,NP_000268
5053	129973	Disease	p.Asp415Asn	612349.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	296	cd03345	4557819,NP_000268
5053	129973	Disease	p.Asp415Asn	612349.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	297	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Asp415Asn	612349.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	301	cd03347	4557819,NP_000268
5053	129973	Disease	p.Asp415Asn	612349.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	304	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ile306Val	612349.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	187	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ile306Val	612349.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	188	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ile306Val	612349.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	192	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ile306Val	612349.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	188	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ile306Val	612349.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	172	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ile306Val	612349.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	161	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ile306Val	612349.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	158	cd00361	4557819,NP_000268
5053	129973	Disease	p.Val388Met	612349.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	269	cd03345	4557819,NP_000268
5053	129973	Disease	p.Val388Met	612349.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	270	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Val388Met	612349.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	274	cd03347	4557819,NP_000268
5053	129973	Disease	p.Val388Met	612349.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	283	cd03346	4557819,NP_000268
5053	129973	Disease	p.Val388Met	612349.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	272	COG3186	4557819,NP_000268
5053	129973	Disease	p.Val388Met	612349.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	249	cd03348	4557819,NP_000268
5053	129973	Disease	p.Val388Met	612349.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	300	cd00361	4557819,NP_000268
5053	129973	Disease	p.Pro244Leu	612349.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	125	cd03345	4557819,NP_000268
5053	129973	Disease	p.Pro244Leu	612349.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	126	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Pro244Leu	612349.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	130	cd03347	4557819,NP_000268
5053	129973	Disease	p.Pro244Leu	612349.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	126	cd03346	4557819,NP_000268
5053	129973	Disease	p.Pro244Leu	612349.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	110	COG3186	4557819,NP_000268
5053	129973	Disease	p.Pro244Leu	612349.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	73	cd03348	4557819,NP_000268
5053	129973	Disease	p.Pro244Leu	612349.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	70	cd00361	4557819,NP_000268
5053	129973	Disease	p.Met1Ile	612349.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	No Domain	N/A	4557819,NP_000268
5053	129973	Disease	p.Leu333Phe	612349.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	214	cd03345	4557819,NP_000268
5053	129973	Disease	p.Leu333Phe	612349.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	215	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Leu333Phe	612349.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	219	cd03347	4557819,NP_000268
5053	129973	Disease	p.Leu333Phe	612349.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	215	cd03346	4557819,NP_000268
5053	129973	Disease	p.Leu333Phe	612349.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	215	COG3186	4557819,NP_000268
5053	129973	Disease	p.Leu333Phe	612349.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	191	cd03348	4557819,NP_000268
5053	129973	Disease	p.Leu333Phe	612349.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	230	cd00361	4557819,NP_000268
5053	129973	Disease	p.Glu390Gly	612349.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU||PHENYLKETONURIA	OMIM	271	cd03345	4557819,NP_000268
5053	129973	Disease	p.Glu390Gly	612349.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU||PHENYLKETONURIA	OMIM	272	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Glu390Gly	612349.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU||PHENYLKETONURIA	OMIM	276	cd03347	4557819,NP_000268
5053	129973	Disease	p.Glu390Gly	612349.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU||PHENYLKETONURIA	OMIM	285	cd03346	4557819,NP_000268
5053	129973	Disease	p.Glu390Gly	612349.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU||PHENYLKETONURIA	OMIM	274	COG3186	4557819,NP_000268
5053	129973	Disease	p.Glu390Gly	612349.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU||PHENYLKETONURIA	OMIM	251	cd03348	4557819,NP_000268
5053	129973	Disease	p.Glu390Gly	612349.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU||PHENYLKETONURIA	OMIM	302	cd00361	4557819,NP_000268
5053	129973	Disease	p.Leu98Ser	612349.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU MILD	OMIM	63	cd04929	4557819,NP_000268
5053	129973	Disease	p.Leu98Ser	612349.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU MILD	OMIM	79	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Leu98Ser	612349.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU MILD	OMIM	72	cd04904	4557819,NP_000268
5053	129973	Disease	p.Leu98Ser	612349.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU MILD	OMIM	78	cd04931	4557819,NP_000268
5053	129973	Disease	p.Leu98Ser	612349.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU MILD	OMIM	84	cd04880	4557819,NP_000268
5053	129973	Disease	p.Leu98Ser	612349.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU MILD	OMIM	86	cd04905	4557819,NP_000268
5053	129973	Disease	p.Leu98Ser	612349.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU MILD	OMIM	103	cd02116	4557819,NP_000268
5053	129973	Disease	p.Thr380Met	612349.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	261	cd03345	4557819,NP_000268
5053	129973	Disease	p.Thr380Met	612349.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	262	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Thr380Met	612349.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	266	cd03347	4557819,NP_000268
5053	129973	Disease	p.Thr380Met	612349.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	275	cd03346	4557819,NP_000268
5053	129973	Disease	p.Thr380Met	612349.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	264	COG3186	4557819,NP_000268
5053	129973	Disease	p.Thr380Met	612349.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	241	cd03348	4557819,NP_000268
5053	129973	Disease	p.Thr380Met	612349.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	292	cd00361	4557819,NP_000268
5053	129973	Disease	p.Gly46Ser	612349.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	12	cd04929	4557819,NP_000268
5053	129973	Disease	p.Gly46Ser	612349.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	18	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Gly46Ser	612349.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	15	cd04904	4557819,NP_000268
5053	129973	Disease	p.Gly46Ser	612349.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	26	cd04931	4557819,NP_000268
5053	129973	Disease	p.Gly46Ser	612349.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	14	cd04880	4557819,NP_000268
5053	129973	Disease	p.Gly46Ser	612349.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	16	cd04905	4557819,NP_000268
5053	129973	Disease	p.Gly46Ser	612349.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	14	cd02116	4557819,NP_000268
5053	129973	Disease	p.Ala47Val	612349.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	13	cd04929	4557819,NP_000268
5053	129973	Disease	p.Ala47Val	612349.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	19	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Ala47Val	612349.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	16	cd04904	4557819,NP_000268
5053	129973	Disease	p.Ala47Val	612349.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	27	cd04931	4557819,NP_000268
5053	129973	Disease	p.Ala47Val	612349.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	15	cd04880	4557819,NP_000268
5053	129973	Disease	p.Ala47Val	612349.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	17	cd04905	4557819,NP_000268
5053	129973	Disease	p.Ala47Val	612349.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	15	cd02116	4557819,NP_000268
5053	129973	Disease	p.Ser87Arg	612349.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	53	cd04929	4557819,NP_000268
5053	129973	Disease	p.Ser87Arg	612349.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	68	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Ser87Arg	612349.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	61	cd04904	4557819,NP_000268
5053	129973	Disease	p.Ser87Arg	612349.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	67	cd04931	4557819,NP_000268
5053	129973	Disease	p.Ser87Arg	612349.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	73	cd04880	4557819,NP_000268
5053	129973	Disease	p.Ser87Arg	612349.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	75	cd04905	4557819,NP_000268
5053	129973	Disease	p.Ser87Arg	612349.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	72	cd02116	4557819,NP_000268
5053	129973	Disease	p.Arg176Leu	612349.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	57	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg176Leu	612349.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	58	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg176Leu	612349.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	62	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg176Leu	612349.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	58	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg176Leu	612349.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	46	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg176Leu	612349.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	8	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg176Leu	612349.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	2	cd00361	4557819,NP_000268
5053	129973	Disease	p.Val245Ala	612349.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	126	cd03345	4557819,NP_000268
5053	129973	Disease	p.Val245Ala	612349.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	127	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Val245Ala	612349.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	131	cd03347	4557819,NP_000268
5053	129973	Disease	p.Val245Ala	612349.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	127	cd03346	4557819,NP_000268
5053	129973	Disease	p.Val245Ala	612349.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	111	COG3186	4557819,NP_000268
5053	129973	Disease	p.Val245Ala	612349.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	74	cd03348	4557819,NP_000268
5053	129973	Disease	p.Val245Ala	612349.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	71	cd00361	4557819,NP_000268
5053	129973	Disease	p.Pro407Leu	612349.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	288	cd03345	4557819,NP_000268
5053	129973	Disease	p.Pro407Leu	612349.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	289	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Pro407Leu	612349.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	293	cd03347	4557819,NP_000268
5053	129973	Disease	p.Pro407Leu	612349.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	293	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ile65Thr	612349.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	31	cd04929	4557819,NP_000268
5053	129973	Disease	p.Ile65Thr	612349.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	37	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Ile65Thr	612349.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	34	cd04904	4557819,NP_000268
5053	129973	Disease	p.Ile65Thr	612349.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	45	cd04931	4557819,NP_000268
5053	129973	Disease	p.Ile65Thr	612349.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	33	cd04880	4557819,NP_000268
5053	129973	Disease	p.Ile65Thr	612349.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	35	cd04905	4557819,NP_000268
5053	129973	Disease	p.Ile65Thr	612349.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	PHENYLKETONURIA	OMIM	34	cd02116	4557819,NP_000268
5053	129973	Disease	p.Glu76Gly	612349.0067	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	42	cd04929	4557819,NP_000268
5053	129973	Disease	p.Glu76Gly	612349.0067	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	57	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Glu76Gly	612349.0067	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	49	cd04904	4557819,NP_000268
5053	129973	Disease	p.Glu76Gly	612349.0067	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	56	cd04931	4557819,NP_000268
5053	129973	Disease	p.Glu76Gly	612349.0067	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	58	cd04880	4557819,NP_000268
5053	129973	Disease	p.Glu76Gly	612349.0067	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	60	cd04905	4557819,NP_000268
5053	129973	Disease	p.Glu76Gly	612349.0067	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612349	HYPERPHENYLALANINEMIA, NON-PKU	OMIM	61	cd02116	4557819,NP_000268
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	263	cd05601	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	284	cd05630	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	315	cd06620	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	265	cd06629	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	270	cd05631	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	280	cd05616	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	253	cd05614	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	291	cd07853	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	286	cd05587	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	280	cd05615	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	286	cd07859	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	252	cd06651	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	342	cd05122	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	449	cd07834	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	325	cd07841	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	267	cd05613	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	255	cd05583	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	247	cd05605	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	426	cd07842	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	418	cd06606	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	291	cd06627	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	257	cd08221	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	245	cd08225	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	245	cd08223	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	281	cd07861	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	249	cd08222	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	255	cd06631	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	326	cd08215	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	279	cd07863	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	274	cd07839	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	253	cd08220	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	260	cd06628	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	283	cd07836	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	252	cd08530	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	271	cd05578	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	272	cd07860	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	317	cd08217	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	302	cd07832	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	256	cd06630	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	293	cd07857	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	317	cd05611	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	277	cd05584	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	253	cd08529	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	275	cd05582	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	255	cd06611	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	296	cd06626	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	329	cd06623	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	314	cd07851	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	299	cd07879	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	329	cd06605	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	346	cd05574	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	324	cd05600	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	262	cd06648	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	299	cd06614	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	271	cd05597	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	340	cd05051	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	320	cd05626	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	332	cd05598	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	1173	COG0515	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	322	cd07855	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	273	cd06618	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	264	cd06607	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	316	cd05038	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	257	cd06617	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	261	cd06657	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	285	cd05108	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	244	cd06640	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	244	cd06641	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	283	cd06609	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	244	cd06642	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	314	cd07849	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	253	cd06643	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	305	cd06634	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	266	cd06621	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	290	cd06650	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	295	cd06633	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	290	cd07837	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	297	cd05053	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	270	cd05079	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	562	cd05599	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	293	cd06615	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	268	cd06649	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	307	cd05628	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	292	cd05609	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	289	cd07878	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	264_G	cd05612	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	263	cd06658	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	310	cd05629	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	307	cd05627	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	399	cd05573	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	296	cd05625	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	272	cd06622	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	291	cd07877	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	310	cd05580	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	267	cd06612	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	298	cd06608	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	254	cd06625	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	304	cd07848	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	328	cd07843	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	283	cd07862	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	260	cd05034	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	292	cd07847	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	295	cd07846	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	518	cd05581	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	280	cd06610	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	359	cd07833	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	279	cd07856	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	314	cd07854	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	1197	smart00220	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	237	cd05593	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	238	cd05591	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	247	cd05618	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	245	cd05617	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	247	cd05588	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	286_G	cd05604	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	261	cd05042	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	238	cd05571	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	237	cd05595	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	238	cd05602	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	267	cd05590	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	249	cd05570	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	239	cd05575	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	510	cd00192	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	275	cd05594	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	289	cd05592	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	269	cd05619	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	284	cd05620	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	271	cd06632	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	307	cd05603	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	287	cd05061	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	260	cd06656	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	268	cd05080	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	318	cd05100	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	302	cd07874	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	287	cd05088	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	304	cd07845	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	256	cd06646	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	256	cd06613	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	254	cd08224	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	256	cd06645	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	260	cd06647	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	279	cd07869	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	329	cd05094	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	277	cd07873	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	309	cd07875	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	260	cd06655	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	299	cd06635	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	285	cd06639	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	261	cd06654	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	306	cd07852	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	288	cd07858	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	289	cd07880	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	252	cd08229	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	277	cd07872	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	306	cd07876	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	341	cd07866	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	305	cd07868	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	276	cd07871	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	285	cd07844	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	283	cd07870	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	342	cd07865	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	305	cd07867	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	294	cd07864	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	261	cd06624	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	309	cd07850	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	291	cd05043	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	690	smart00219	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	472	pfam07714	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	243	cd05589	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	270	cd06616	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	353	cd07829	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	408	cd07840	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	384	cd07830	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	288	cd07831	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	1071	smart00221	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	299	cd05118	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	304	cd07835	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	457	pfam00069	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	343	cd07838	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	266	cd05608	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	266	cd05586	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	270	cd05606	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	851	cd00180	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	246	cd05633	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	248	cd05577	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	269	cd05585	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	912	cd05123	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	812	cd05579	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	262	cd06659	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	302	cd08216	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	263	cd05601	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	284	cd05630	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	315	cd06620	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	265	cd06629	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	270	cd05631	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	280	cd05616	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	253	cd05614	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	291	cd07853	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	286	cd05587	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	280	cd05615	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	286	cd07859	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	252	cd06651	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	342	cd05122	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	449	cd07834	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	325	cd07841	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	267	cd05613	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	255	cd05583	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	247	cd05605	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	426	cd07842	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	418	cd06606	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	291	cd06627	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	257	cd08221	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	245	cd08225	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	245	cd08223	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	281	cd07861	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	249	cd08222	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	255	cd06631	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	326	cd08215	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	279	cd07863	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	274	cd07839	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	253	cd08220	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	260	cd06628	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	283	cd07836	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	252	cd08530	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	271	cd05578	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	272	cd07860	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	317	cd08217	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	302	cd07832	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	256	cd06630	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	293	cd07857	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	317	cd05611	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	277	cd05584	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	253	cd08529	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	275	cd05582	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	255	cd06611	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	296	cd06626	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	329	cd06623	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	314	cd07851	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	299	cd07879	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	329	cd06605	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	346	cd05574	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	324	cd05600	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	262	cd06648	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	299	cd06614	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	271	cd05597	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	340	cd05051	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	320	cd05626	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	332	cd05598	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	1173	COG0515	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	322	cd07855	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	273	cd06618	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	264	cd06607	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	316	cd05038	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	257	cd06617	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	261	cd06657	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	285	cd05108	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	244	cd06640	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	244	cd06641	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	283	cd06609	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	244	cd06642	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	314	cd07849	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	253	cd06643	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	305	cd06634	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	266	cd06621	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	290	cd06650	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	295	cd06633	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	290	cd07837	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	297	cd05053	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	270	cd05079	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	562	cd05599	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	293	cd06615	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	268	cd06649	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	307	cd05628	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	292	cd05609	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	289	cd07878	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	264_G	cd05612	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	263	cd06658	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	310	cd05629	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	307	cd05627	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	399	cd05573	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	296	cd05625	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	272	cd06622	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	291	cd07877	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	310	cd05580	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	267	cd06612	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	298	cd06608	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	254	cd06625	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	304	cd07848	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	328	cd07843	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	283	cd07862	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	260	cd05034	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	292	cd07847	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	295	cd07846	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	518	cd05581	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	280	cd06610	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	359	cd07833	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	279	cd07856	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	314	cd07854	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	1197	smart00220	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	237	cd05593	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	238	cd05591	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	247	cd05618	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	245	cd05617	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	247	cd05588	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	286_G	cd05604	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	261	cd05042	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	238	cd05571	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	237	cd05595	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	238	cd05602	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	267	cd05590	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	249	cd05570	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	239	cd05575	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	510	cd00192	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	275	cd05594	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	289	cd05592	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	269	cd05619	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	284	cd05620	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	271	cd06632	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	307	cd05603	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	287	cd05061	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	260	cd06656	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	268	cd05080	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	318	cd05100	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	302	cd07874	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	287	cd05088	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	304	cd07845	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	256	cd06646	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	256	cd06613	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	254	cd08224	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	256	cd06645	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	260	cd06647	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	279	cd07869	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	329	cd05094	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	277	cd07873	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	309	cd07875	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	260	cd06655	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	299	cd06635	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	285	cd06639	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	261	cd06654	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	306	cd07852	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	288	cd07858	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	289	cd07880	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	252	cd08229	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	277	cd07872	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	306	cd07876	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	341	cd07866	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	305	cd07868	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	276	cd07871	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	285	cd07844	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	283	cd07870	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	342	cd07865	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	305	cd07867	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	294	cd07864	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	261	cd06624	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	309	cd07850	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	291	cd05043	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	690	smart00219	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	472	pfam07714	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	243	cd05589	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	270	cd06616	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	353	cd07829	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	408	cd07840	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	384	cd07830	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	288	cd07831	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	1071	smart00221	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	299	cd05118	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	304	cd07835	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	457	pfam00069	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	343	cd07838	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	266	cd05608	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	266	cd05586	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	270	cd05606	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	851	cd00180	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	246	cd05633	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	248	cd05577	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	269	cd05585	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	912	cd05123	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	812	cd05579	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	262	cd06659	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	612325.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612325	ENDOCRINE-CEREBROOSTEODYSPLASIA	OMIM	302	cd08216	7662388,NP_055735|27477122,NP_057597
2153	308153653	Disease	p.Arg506Gln	612309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612309	THROMBOPHILIA DUE TO FACTOR V LEIDEN||STROKE, ISCHEMIC, SUSCEPTIBILITY TO||BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	105990535,NP_000121
2153	308153653	Disease	p.Arg306Gly	612309.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612309	FACTOR V HONG KONG	OMIM	No Domain	N/A	105990535,NP_000121
2153	308153653	Disease	p.Arg306Thr	612309.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612309	THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE	OMIM	No Domain	N/A	105990535,NP_000121
2153	308153653	Disease	p.Tyr1702Cys	612309.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612309	FACTOR V DEFICIENCY	OMIM	No Domain	N/A	105990535,NP_000121
2153	308153653	Disease	p.Arg2074Cys	612309.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612309	FACTOR V DEFICIENCY	OMIM	14	smart00231	105990535,NP_000121
2153	308153653	Disease	p.Arg2074Cys	612309.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612309	FACTOR V DEFICIENCY	OMIM	7	cd00057	105990535,NP_000121
2153	308153653	Disease	p.Ile359Thr	612309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612309	THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE	OMIM	No Domain	N/A	105990535,NP_000121
5624	131067	Disease	p.Trp402Cys	612283.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	494	smart00020	4506115,NP_000303
5624	131067	Disease	p.Trp402Cys	612283.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	285	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Trp402Cys	612283.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	354	cd00190	4506115,NP_000303
5624	131067	Disease	p.Arg12Trp	612283.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	4506115,NP_000303
5624	131067	Disease	p.Arg169Trp	612283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT||THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	69	smart00181	4506115,NP_000303
5624	131067	Disease	p.Ala259Val	612283.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	76	smart00020	4506115,NP_000303
5624	131067	Disease	p.Ala259Val	612283.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	79	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Ala259Val	612283.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	66	cd00190	4506115,NP_000303
5624	131067	Disease	p.Pro168Leu	612283.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	68	smart00181	4506115,NP_000303
5624	131067	Disease	p.Ala267Thr	612283.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	103	smart00020	4506115,NP_000303
5624	131067	Disease	p.Ala267Thr	612283.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	92	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Ala267Thr	612283.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	92	cd00190	4506115,NP_000303
5624	131067	Disease	p.Gly301Ser	612283.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	252	smart00020	4506115,NP_000303
5624	131067	Disease	p.Gly301Ser	612283.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	145	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Gly301Ser	612283.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	152	cd00190	4506115,NP_000303
5624	131067	Disease	p.Glu20Ala	612283.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	4506115,NP_000303
5624	131067	Disease	p.Val34Met	612283.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	11	smart00069	4506115,NP_000303
5624	131067	Disease	p.Gly292Ser	612283.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	202	smart00020	4506115,NP_000303
5624	131067	Disease	p.Gly292Ser	612283.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	125	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Gly292Ser	612283.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	132	cd00190	4506115,NP_000303
5624	131067	Disease	p.Pro247Leu	612283.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	60	smart00020	4506115,NP_000303
5624	131067	Disease	p.Pro247Leu	612283.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	50	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Pro247Leu	612283.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	54	cd00190	4506115,NP_000303
5624	131067	Disease	p.Arg178Trp	612283.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	4506115,NP_000303
5624	131067	Disease	p.Arg178Gln	612283.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	4506115,NP_000303
5624	131067	Disease	p.Arg230Cys	612283.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	26	smart00020	4506115,NP_000303
5624	131067	Disease	p.Arg230Cys	612283.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	23	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Arg230Cys	612283.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	23	cd00190	4506115,NP_000303
5624	131067	Disease	p.Gln184His	612283.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	4506115,NP_000303
5624	131067	Disease	p.Leu223Phe	612283.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	19	smart00020	4506115,NP_000303
5624	131067	Disease	p.Leu223Phe	612283.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	12	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Leu223Phe	612283.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	16	cd00190	4506115,NP_000303
5624	131067	Disease	p.Ile403Met	612283.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	495	smart00020	4506115,NP_000303
5624	131067	Disease	p.Ile403Met	612283.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	286	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Ile403Met	612283.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	355	cd00190	4506115,NP_000303
5624	131067	Disease	p.Val297Met	612283.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	245	smart00020	4506115,NP_000303
5624	131067	Disease	p.Val297Met	612283.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	141	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Val297Met	612283.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	148	cd00190	4506115,NP_000303
5624	131067	Disease	p.His107Pro	612283.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	32	cd00054	4506115,NP_000303
5624	131067	Disease	p.His107Pro	612283.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	27	smart00179	4506115,NP_000303
5624	131067	Disease	p.His107Pro	612283.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	12	pfam00008	4506115,NP_000303
5624	131067	Disease	p.His107Pro	612283.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	18	smart00181	4506115,NP_000303
5624	131067	Disease	p.His107Pro	612283.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	20	cd00053	4506115,NP_000303
5624	131067	Disease	p.Ser270Leu	612283.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	107	smart00020	4506115,NP_000303
5624	131067	Disease	p.Ser270Leu	612283.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	96	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Ser270Leu	612283.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612283	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	95	cd00190	4506115,NP_000303
2517	156631012	Disease	p.Gln281Arg	612280.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612280	FU1/FU2 POLYMORPHISM	OMIM	279	COG3669	119360348,NP_000138
2517	156631012	Disease	p.Gln281Arg	612280.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612280	FU1/FU2 POLYMORPHISM	OMIM	645	smart00812	119360348,NP_000138
2517	156631012	Disease	p.Gln281Arg	612280.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612280	FU1/FU2 POLYMORPHISM	OMIM	740	pfam01120	119360348,NP_000138
2517	156631012	Disease	p.Leu405Arg	612280.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612280	FUCOSIDOSIS	OMIM	440	COG3669	119360348,NP_000138
2517	156631012	Disease	p.Leu405Arg	612280.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612280	FUCOSIDOSIS	OMIM	913	smart00812	119360348,NP_000138
9719	74750384	Disease	p.Pro147Leu	612277.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612277	GELEOPHYSIC DYSPLASIA	OMIM	No Domain	N/A	41281450,NP_055509|223718260,NP_001138792
9719	74750384	Disease	p.Pro147Leu	612277.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612277	GELEOPHYSIC DYSPLASIA	OMIM	No Domain	N/A	41281450,NP_055509|223718260,NP_001138792
9719	74750384	Disease	p.Arg113His	612277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612277	GELEOPHYSIC DYSPLASIA	OMIM	No Domain	N/A	41281450,NP_055509|223718260,NP_001138792
9719	74750384	Disease	p.Arg113His	612277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612277	GELEOPHYSIC DYSPLASIA	OMIM	No Domain	N/A	41281450,NP_055509|223718260,NP_001138792
9719	74750384	Disease	p.Glu114Lys	612277.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612277	GELEOPHYSIC DYSPLASIA	OMIM	No Domain	N/A	41281450,NP_055509|223718260,NP_001138792
9719	74750384	Disease	p.Glu114Lys	612277.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612277	GELEOPHYSIC DYSPLASIA	OMIM	No Domain	N/A	41281450,NP_055509|223718260,NP_001138792
9719	74750384	Disease	p.Glu811Arg	612277.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612277	GELEOPHYSIC DYSPLASIA	OMIM	No Domain	N/A	41281450,NP_055509|223718260,NP_001138792
9719	74750384	Disease	p.Glu811Arg	612277.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612277	GELEOPHYSIC DYSPLASIA	OMIM	No Domain	N/A	41281450,NP_055509|223718260,NP_001138792
2588	462148	Disease	p.Asn204Lys	612222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A	OMIM	280	COG3119	4503899,NP_000503
2588	462148	Disease	p.Asn204Lys	612222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A	OMIM	296	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Ala138Val	612222.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A	OMIM	156	COG3119	4503899,NP_000503
2588	462148	Disease	p.Ala138Val	612222.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A	OMIM	149	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Arg386Cys	612222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A	OMIM	553	COG3119	4503899,NP_000503
2588	462148	Disease	p.Arg386Cys	612222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A	OMIM	716	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Ile113Phe	612222.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A	OMIM	131_G	COG3119	4503899,NP_000503
2588	462148	Disease	p.Ile113Phe	612222.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A	OMIM	123	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Asn487Ser	612222.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A	OMIM	No Domain	N/A	4503899,NP_000503
2588	462148	Disease	p.Arg94Gly	612222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A	OMIM	108	COG3119	4503899,NP_000503
2588	462148	Disease	p.Arg94Gly	612222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A	OMIM	103	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Arg259Gln	612222.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A, MILD	OMIM	371	COG3119	4503899,NP_000503
2588	462148	Disease	p.Arg259Gln	612222.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A, MILD	OMIM	449	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Gly301Cys	612222.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A	OMIM	462	COG3119	4503899,NP_000503
2588	462148	Disease	p.Gly301Cys	612222.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A	OMIM	537	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Ser162Phe	612222.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A	OMIM	214	COG3119	4503899,NP_000503
2588	462148	Disease	p.Ser162Phe	612222.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A	OMIM	199	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Phe69Val	612222.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A	OMIM	83	COG3119	4503899,NP_000503
2588	462148	Disease	p.Phe69Val	612222.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A	OMIM	76	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Thr312Ser	612222.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A, MILD	OMIM	474	COG3119	4503899,NP_000503
2588	462148	Disease	p.Thr312Ser	612222.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A, MILD	OMIM	549	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Asp60Asn	612222.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A, MILD	OMIM	74	COG3119	4503899,NP_000503
2588	462148	Disease	p.Asp60Asn	612222.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A, MILD	OMIM	65	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Ala291Thr	612222.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A, MILD	OMIM	407	COG3119	4503899,NP_000503
2588	462148	Disease	p.Ala291Thr	612222.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612222	MORQUIO SYNDROME A, MILD	OMIM	482	pfam00884	4503899,NP_000503
346171	239582722	Disease	p.His438Asp	612192.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612192	DIABETES MELLITUS, TRANSIENT NEONATAL, 1	OMIM	No Domain	N/A	NULL
346171	239582722	Disease	p.Arg228His	612192.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612192	DIABETES MELLITUS, TRANSIENT NEONATAL, 1	OMIM	No Domain	N/A	NULL
346171	239582722	Disease	p.His257Asn	612192.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612192	DIABETES MELLITUS, TRANSIENT NEONATAL, 1	OMIM	No Domain	N/A	NULL
81539	74733561	Disease	p.Arg197Gln	612182.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612182	ACETYLATION, SLOW	OMIM	159	pfam01490	117168277,NP_001070952|117168275,NP_109599
81539	74733561	Disease	p.Arg197Gln	612182.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612182	ACETYLATION, SLOW	OMIM	145	COG0814	117168277,NP_001070952|117168275,NP_109599
81539	74733561	Disease	p.Arg197Gln	612182.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612182	ACETYLATION, SLOW	OMIM	159	pfam01490	117168277,NP_001070952|117168275,NP_109599
81539	74733561	Disease	p.Arg197Gln	612182.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612182	ACETYLATION, SLOW	OMIM	145	COG0814	117168277,NP_001070952|117168275,NP_109599
81539	74733561	Disease	p.Ile114Thr	612182.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612182	ACETYLATION, SLOW	OMIM	47	pfam01490	117168277,NP_001070952|117168275,NP_109599
81539	74733561	Disease	p.Ile114Thr	612182.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612182	ACETYLATION, SLOW	OMIM	52	COG0814	117168277,NP_001070952|117168275,NP_109599
81539	74733561	Disease	p.Ile114Thr	612182.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612182	ACETYLATION, SLOW	OMIM	47	pfam01490	117168277,NP_001070952|117168275,NP_109599
81539	74733561	Disease	p.Ile114Thr	612182.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612182	ACETYLATION, SLOW	OMIM	52	COG0814	117168277,NP_001070952|117168275,NP_109599
81539	74733561	Disease	p.Lys268Arg	612182.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612182	ACETYLATION, SLOW	OMIM	247	pfam01490	117168277,NP_001070952|117168275,NP_109599
81539	74733561	Disease	p.Lys268Arg	612182.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612182	ACETYLATION, SLOW	OMIM	212	COG0814	117168277,NP_001070952|117168275,NP_109599
81539	74733561	Disease	p.Lys268Arg	612182.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612182	ACETYLATION, SLOW	OMIM	247	pfam01490	117168277,NP_001070952|117168275,NP_109599
81539	74733561	Disease	p.Lys268Arg	612182.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612182	ACETYLATION, SLOW	OMIM	212	COG0814	117168277,NP_001070952|117168275,NP_109599
81539	74733561	Disease	p.Gly286Glu	612182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612182	ACETYLATION, SLOW	OMIM	265	pfam01490	117168277,NP_001070952|117168275,NP_109599
81539	74733561	Disease	p.Gly286Glu	612182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612182	ACETYLATION, SLOW	OMIM	230	COG0814	117168277,NP_001070952|117168275,NP_109599
81539	74733561	Disease	p.Gly286Glu	612182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612182	ACETYLATION, SLOW	OMIM	265	pfam01490	117168277,NP_001070952|117168275,NP_109599
81539	74733561	Disease	p.Gly286Glu	612182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612182	ACETYLATION, SLOW	OMIM	230	COG0814	117168277,NP_001070952|117168275,NP_109599
219931	125991221	Disease	p.Met484Leu	612163.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612163	SKIN/HAIR/EYE PIGMENTATION 10, BLOND/BROWN HAIR	OMIM	14	pfam00520	157502181,NP_620714
219931	125991221	Disease	p.Gly734Glu	612163.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612163	SKIN/HAIR/EYE PIGMENTATION 10, BLOND/BROWN HAIR	OMIM	No Domain	N/A	157502181,NP_620714
27089	20141846	Disease	p.Ser45Phe	612080.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612080	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	45	pfam02939	83367083,NP_055217
55131	55976611	Disease	p.Leu351Pro	612074.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612074	ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME	OMIM	23	smart00360	187960109,NP_060547
55131	55976611	Disease	p.Leu351Pro	612074.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612074	ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME	OMIM	45	cd00590	187960109,NP_060547
55131	55976611	Disease	p.Leu351Pro	612074.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612074	ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME	OMIM	24	smart00362	187960109,NP_060547
55131	55976611	Disease	p.Leu351Pro	612074.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612074	ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME	OMIM	17	pfam00076	187960109,NP_060547
55131	260898763	Disease	p.Leu351Pro	612074.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612074	ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME	OMIM	2	smart00360	NULL
55131	260898763	Disease	p.Leu351Pro	612074.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612074	ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME	OMIM	5	cd00590	NULL
55131	260898763	Disease	p.Leu351Pro	612074.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612074	ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME	OMIM	586	COG0724	NULL
79188	74733151	Disease	p.Ser358Leu	612048.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612048	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5	OMIM	355	pfam07787	13236587,NP_077310
389434	257743489	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	9	cd02139	NULL
389434	257743489	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	9	cd02151	NULL
389434	257743489	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	9	cd02144	NULL
389434	257743489	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	5	cd02062	NULL
389434	257743489	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	5	pfam00881	NULL
389434	257743489	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	8	cd02145	NULL
389434	257743489	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	8	cd02150	NULL
389434	257743489	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	6	cd02143	NULL
389434	91207083	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	9	cd02136	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	9	cd02139	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	9	cd03370	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	9	cd02144	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	9	cd02151	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	5	cd02062	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	5	pfam00881	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	8	cd02145	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	8	cd02135	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	8	cd02137	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	8	cd02150	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	13	COG0778	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	6	cd02143	42794271,NP_981932
389434	257743486	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	9	cd02151	NULL
389434	257743486	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	9	cd02139	NULL
389434	257743486	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	9	cd02144	NULL
389434	257743486	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	5	pfam00881	NULL
389434	257743486	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	5	cd02062	NULL
389434	257743486	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	8	cd02145	NULL
389434	257743486	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	8	cd02150	NULL
389434	257743486	Disease	p.Arg101Trp	612025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	6	cd02143	NULL
389434	257743489	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	25	cd02139	NULL
389434	257743489	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	24	cd02151	NULL
389434	257743489	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	25	cd02144	NULL
389434	257743489	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	25	cd02062	NULL
389434	257743489	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	51	pfam00881	NULL
389434	257743489	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	24	cd02145	NULL
389434	257743489	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	23	cd02150	NULL
389434	257743489	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	21	cd02143	NULL
389434	91207083	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	25	cd02136	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	25	cd02139	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	25	cd03370	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	25	cd02144	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	24	cd02151	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	25	cd02062	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	51	pfam00881	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	24	cd02145	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	25	cd02135	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	24	cd02137	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	23	cd02150	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	39	COG0778	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	21	cd02143	42794271,NP_981932
389434	257743486	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	24	cd02151	NULL
389434	257743486	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	25	cd02139	NULL
389434	257743486	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	25	cd02144	NULL
389434	257743486	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	51	pfam00881	NULL
389434	257743486	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	25	cd02062	NULL
389434	257743486	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	24	cd02145	NULL
389434	257743486	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	23	cd02150	NULL
389434	257743486	Disease	p.Ile116Thr	612025.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	21	cd02143	NULL
389434	257743489	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	149	cd02139	NULL
389434	257743489	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	131	cd02144	NULL
389434	257743489	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	210	cd02062	NULL
389434	257743489	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	464	pfam00881	NULL
389434	257743489	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	126	cd02145	NULL
389434	257743489	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	188	cd02150	NULL
389434	257743489	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	169	cd02143	NULL
389434	91207083	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	183	cd02136	42794271,NP_981932
389434	91207083	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	149	cd02139	42794271,NP_981932
389434	91207083	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	169	cd03370	42794271,NP_981932
389434	91207083	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	131	cd02144	42794271,NP_981932
389434	91207083	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	95	cd02151	42794271,NP_981932
389434	91207083	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	210	cd02062	42794271,NP_981932
389434	91207083	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	442	pfam00881	42794271,NP_981932
389434	91207083	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	126	cd02145	42794271,NP_981932
389434	91207083	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	132	cd02135	42794271,NP_981932
389434	91207083	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	175	cd02137	42794271,NP_981932
389434	91207083	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	140	cd02150	42794271,NP_981932
389434	91207083	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	284	COG0778	42794271,NP_981932
389434	91207083	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	128	cd02143	42794271,NP_981932
389434	257743486	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	149	cd02139	NULL
389434	257743486	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	131	cd02144	NULL
389434	257743486	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	442	pfam00881	NULL
389434	257743486	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	210	cd02062	NULL
389434	257743486	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	126	cd02145	NULL
389434	257743486	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	140	cd02150	NULL
389434	257743486	Disease	p.Ala220Tyr	612025.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612025	THYROID DYSHORMONOGENESIS 4	OMIM	182	cd02143	NULL
57545	229462975	Disease	p.Pro1122Ser	612013.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612013	JOUBERT SYNDROME 9	OMIM	No Domain	N/A	197209974,NP_001073991
57545	257900483	Disease	p.Pro1122Ser	612013.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612013	JOUBERT SYNDROME 9	OMIM	No Domain	N/A	NULL
57545	257900481	Disease	p.Pro1122Ser	612013.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612013	JOUBERT SYNDROME 9	OMIM	No Domain	N/A	NULL
57545	229462975	Disease	p.Arg1528Cys	612013.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612013	JOUBERT SYNDROME 9	OMIM	No Domain	N/A	197209974,NP_001073991
57545	257900483	Disease	p.Arg1528Cys	612013.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612013	JOUBERT SYNDROME 9	OMIM	No Domain	N/A	NULL
57545	257900481	Disease	p.Arg1528Cys	612013.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612013	JOUBERT SYNDROME 9	OMIM	No Domain	N/A	NULL
57545	229462975	Disease	p.Thr1116Met	612013.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612013	COACH SYNDROME	OMIM	No Domain	N/A	197209974,NP_001073991
57545	257900483	Disease	p.Thr1116Met	612013.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612013	COACH SYNDROME	OMIM	No Domain	N/A	NULL
57545	257900481	Disease	p.Thr1116Met	612013.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612013	COACH SYNDROME	OMIM	No Domain	N/A	NULL
26058	156766045	Disease	p.Asn56Ser	612003.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	No Domain	N/A	NULL
26058	74710467	Disease	p.Asn56Ser	612003.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	No Domain	N/A	42476299,NP_056390|156766043,NP_001096616
26058	74710467	Disease	p.Asn56Ser	612003.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	No Domain	N/A	42476299,NP_056390|156766043,NP_001096616
26058	156766047	Disease	p.Asn56Ser	612003.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	No Domain	N/A	NULL
26058	156766045	Disease	p.Asn457Thr	612003.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	No Domain	N/A	NULL
26058	74710467	Disease	p.Asn457Thr	612003.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	No Domain	N/A	42476299,NP_056390|156766043,NP_001096616
26058	74710467	Disease	p.Asn457Thr	612003.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	No Domain	N/A	42476299,NP_056390|156766043,NP_001096616
26058	156766047	Disease	p.Asn457Thr	612003.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	No Domain	N/A	NULL
26058	156766045	Disease	p.Asp606Glu	612003.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	61	cd00072	NULL
26058	156766045	Disease	p.Asp606Glu	612003.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	57	smart00444	NULL
26058	156766045	Disease	p.Asp606Glu	612003.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	77	pfam02213	NULL
26058	74710467	Disease	p.Asp606Glu	612003.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	No Domain	N/A	42476299,NP_056390|156766043,NP_001096616
26058	74710467	Disease	p.Asp606Glu	612003.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	No Domain	N/A	42476299,NP_056390|156766043,NP_001096616
26058	156766047	Disease	p.Asp606Glu	612003.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	No Domain	N/A	NULL
26058	156766045	Disease	p.Ile278Val	612003.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	No Domain	N/A	NULL
26058	74710467	Disease	p.Ile278Val	612003.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	No Domain	N/A	42476299,NP_056390|156766043,NP_001096616
26058	74710467	Disease	p.Ile278Val	612003.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	No Domain	N/A	42476299,NP_056390|156766043,NP_001096616
26058	156766047	Disease	p.Ile278Val	612003.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	No Domain	N/A	NULL
26058	156766045	Disease	p.Lys421Arg	612003.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	No Domain	N/A	NULL
26058	74710467	Disease	p.Lys421Arg	612003.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	No Domain	N/A	42476299,NP_056390|156766043,NP_001096616
26058	74710467	Disease	p.Lys421Arg	612003.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	No Domain	N/A	42476299,NP_056390|156766043,NP_001096616
26058	156766047	Disease	p.Lys421Arg	612003.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612003	PARKINSON DISEASE 11	OMIM	No Domain	N/A	NULL
27249	68565296	Disease	p.Leu259Pro	611935.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611935	HOMOCYSTINURIA, cblD TYPE, VARIANT 1	OMIM	254	pfam10229	7661548,NP_056517
27249	68565296	Disease	p.Thr182Asn	611935.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611935	HOMOCYSTINURIA, cblD TYPE, VARIANT 1	OMIM	176	pfam10229	7661548,NP_056517
27249	68565296	Disease	p.Tyr249Cys	611935.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611935	HOMOCYSTINURIA, cblD TYPE, VARIANT 1	OMIM	244	pfam10229	7661548,NP_056517
23479	56699456	Disease	p.Gly50Glu	611911.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611911	MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY	OMIM	23	cd06664	NULL
23479	56699456	Disease	p.Gly50Glu	611911.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611911	MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY	OMIM	17	pfam01592	NULL
23479	56699456	Disease	p.Gly50Glu	611911.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611911	MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY	OMIM	22	COG0822	NULL
23479	24307953	Disease	p.Gly50Glu	611911.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611911	MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY	OMIM	53	COG0822	NULL
23479	24307953	Disease	p.Gly50Glu	611911.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611911	MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY	OMIM	57	cd06664	NULL
23479	24307953	Disease	p.Gly50Glu	611911.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611911	MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY	OMIM	47	pfam01592	NULL
55065	308153487	Disease	p.Arg67Cys	611908.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611908	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In	OMIM	No Domain	N/A	157388951,NP_001098047|157388953,NP_060456
55065	308153487	Disease	p.Arg67Cys	611908.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611908	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In	OMIM	No Domain	N/A	157388951,NP_001098047|157388953,NP_060456
23171	74750945	Disease	p.Ala280Val	611778.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611778	BRUGADA SYNDROME 2	OMIM	101	pfam07479	24307999,NP_055956
23171	74750945	Disease	p.Ala280Val	611778.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611778	BRUGADA SYNDROME 2	OMIM	325	COG0240	24307999,NP_055956
23171	74750945	Disease	p.Glu83Lys	611778.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611778	BRUGADA SYNDROME 2	OMIM	86	pfam01210	24307999,NP_055956
23171	74750945	Disease	p.Glu83Lys	611778.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611778	BRUGADA SYNDROME 2	OMIM	85	COG0240	24307999,NP_055956
23171	74750945	Disease	p.Ile124Val	611778.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611778	BRUGADA SYNDROME 2	OMIM	140	pfam01210	24307999,NP_055956
23171	74750945	Disease	p.Ile124Val	611778.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611778	BRUGADA SYNDROME 2	OMIM	141	COG0240	24307999,NP_055956
23171	74750945	Disease	p.Arg273Cys	611778.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611778	BRUGADA SYNDROME 2	OMIM	94	pfam07479	24307999,NP_055956
23171	74750945	Disease	p.Arg273Cys	611778.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611778	BRUGADA SYNDROME 2	OMIM	317	COG0240	24307999,NP_055956
29078	30912745	Disease	p.Leu65Pro	611776.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611776	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	68	pfam06784	7661786,NP_054884
137814	210147470	Disease	p.Phe151Leu	611770.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611770	PERSISTENT TRUNCUS ARTERIOSUS	OMIM	No Domain	N/A	NULL
5624	131067	Disease	p.Arg414Cys	611731.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611731	GARNDER SYNDROME	OMIM	522	smart00020	4506115,NP_000303
5624	131067	Disease	p.Arg414Cys	611731.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611731	GARNDER SYNDROME	OMIM	301	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Arg414Cys	611731.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611731	GARNDER SYNDROME	OMIM	370	cd00190	4506115,NP_000303
5624	131067	Disease	p.Glu1317Gln	611731.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611731	ADENOMATOUS POLYPOSIS COLI, ATTENUATED	OMIM	No Domain	N/A	4506115,NP_000303
9733	74762140	Disease	p.Val591Met	611684.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611684	POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1	OMIM	8	COG0724	7661952,NP_055521
113235	74732636	Disease	p.Arg113Ser	611672.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611672	FOLATE MALABSORPTION, HEREDITARY	OMIM	177	pfam07690	31543204,NP_542400
113235	74732636	Disease	p.Arg113Ser	611672.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611672	FOLATE MALABSORPTION, HEREDITARY	OMIM	127	cd06174	31543204,NP_542400
113235	74732636	Disease	p.Arg113Ser	611672.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611672	FOLATE MALABSORPTION, HEREDITARY	OMIM	77	COG2814	31543204,NP_542400
113235	74732636	Disease	p.Ser318Arg	611672.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611672	FOLATE MALABSORPTION, HEREDITARY	OMIM	580	pfam07690	31543204,NP_542400
113235	74732636	Disease	p.Ser318Arg	611672.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611672	FOLATE MALABSORPTION, HEREDITARY	OMIM	571	cd06174	31543204,NP_542400
113235	74732636	Disease	p.Ser318Arg	611672.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611672	FOLATE MALABSORPTION, HEREDITARY	OMIM	272	COG2814	31543204,NP_542400
113235	74732636	Disease	p.Arg376Trp	611672.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611672	FOLATE MALABSORPTION, HEREDITARY	OMIM	699	pfam07690	31543204,NP_542400
113235	74732636	Disease	p.Arg376Trp	611672.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611672	FOLATE MALABSORPTION, HEREDITARY	OMIM	775	cd06174	31543204,NP_542400
113235	74732636	Disease	p.Arg376Trp	611672.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611672	FOLATE MALABSORPTION, HEREDITARY	OMIM	341	COG2814	31543204,NP_542400
113235	74732636	Disease	p.Arg113Cys	611672.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611672	FOLATE MALABSORPTION, HEREDITARY	OMIM	177	pfam07690	31543204,NP_542400
113235	74732636	Disease	p.Arg113Cys	611672.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611672	FOLATE MALABSORPTION, HEREDITARY	OMIM	127	cd06174	31543204,NP_542400
113235	74732636	Disease	p.Arg113Cys	611672.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611672	FOLATE MALABSORPTION, HEREDITARY	OMIM	77	COG2814	31543204,NP_542400
29914	74753514	Disease	p.Asn102Ser	611632.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	81	COG0382	7019551,NP_037451
29914	74753514	Disease	p.Asn102Ser	611632.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	90	pfam01040	7019551,NP_037451
29914	74753514	Disease	p.Asn102Ser	611632.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	72	COG1575	7019551,NP_037451
29914	74753514	Disease	p.Gly177Arg	611632.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	167	COG0382	7019551,NP_037451
29914	74753514	Disease	p.Gly177Arg	611632.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	246	pfam01040	7019551,NP_037451
29914	74753514	Disease	p.Gly177Arg	611632.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	152	COG1575	7019551,NP_037451
29914	74753514	Disease	p.Arg119Gly	611632.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	107	COG0382	7019551,NP_037451
29914	74753514	Disease	p.Arg119Gly	611632.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	119	pfam01040	7019551,NP_037451
29914	74753514	Disease	p.Arg119Gly	611632.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	96	COG1575	7019551,NP_037451
29914	74753514	Disease	p.Thr175Ile	611632.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	163	COG0382	7019551,NP_037451
29914	74753514	Disease	p.Thr175Ile	611632.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	244	pfam01040	7019551,NP_037451
29914	74753514	Disease	p.Thr175Ile	611632.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	150	COG1575	7019551,NP_037451
29914	74753514	Disease	p.Asn232Ser	611632.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	231	COG0382	7019551,NP_037451
29914	74753514	Disease	p.Asn232Ser	611632.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	425	pfam01040	7019551,NP_037451
29914	74753514	Disease	p.Asn232Ser	611632.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	231	COG1575	7019551,NP_037451
29914	74753514	Disease	p.Asp112Gly	611632.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	91	COG0382	7019551,NP_037451
29914	74753514	Disease	p.Asp112Gly	611632.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	102	pfam01040	7019551,NP_037451
29914	74753514	Disease	p.Asp112Gly	611632.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	82	COG1575	7019551,NP_037451
29914	74753514	Disease	p.Ser171Pro	611632.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	159	COG0382	7019551,NP_037451
29914	74753514	Disease	p.Ser171Pro	611632.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	239	pfam01040	7019551,NP_037451
29914	74753514	Disease	p.Ser171Pro	611632.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	146_G	COG1575	7019551,NP_037451
29914	74753514	Disease	p.Gly186Arg	611632.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	176	COG0382	7019551,NP_037451
29914	74753514	Disease	p.Gly186Arg	611632.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	273	pfam01040	7019551,NP_037451
29914	74753514	Disease	p.Gly186Arg	611632.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	162	COG1575	7019551,NP_037451
29914	74753514	Disease	p.Asp236Glu	611632.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	235	COG0382	7019551,NP_037451
29914	74753514	Disease	p.Asp236Glu	611632.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	436	pfam01040	7019551,NP_037451
29914	74753514	Disease	p.Asp236Glu	611632.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611632	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	OMIM	235	COG1575	7019551,NP_037451
2203	311033495	Disease	p.Gly164Ser	611570.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	217	cd01637	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Gly164Ser	611570.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	209	cd01636	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Gly164Ser	611570.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	177	COG0158	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Gly164Ser	611570.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	201	cd00354	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Gly164Ser	611570.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	171	pfam00316	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Gly164Ser	611570.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	217	cd01637	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Gly164Ser	611570.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	209	cd01636	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Gly164Ser	611570.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	177	COG0158	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Gly164Ser	611570.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	201	cd00354	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Gly164Ser	611570.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	171	pfam00316	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Ala177Asp	611570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	245	cd01637	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Ala177Asp	611570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	229	cd01636	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Ala177Asp	611570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	190	COG0158	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Ala177Asp	611570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	214	cd00354	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Ala177Asp	611570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	184	pfam00316	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Ala177Asp	611570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	245	cd01637	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Ala177Asp	611570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	229	cd01636	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Ala177Asp	611570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	190	COG0158	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Ala177Asp	611570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	214	cd00354	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Ala177Asp	611570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	184	pfam00316	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Phe194Ser	611570.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	265	cd01637	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Phe194Ser	611570.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	246	cd01636	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Phe194Ser	611570.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	207	COG0158	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Phe194Ser	611570.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	243	cd00354	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Phe194Ser	611570.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	203	pfam00316	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Phe194Ser	611570.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	265	cd01637	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Phe194Ser	611570.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	246	cd01636	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Phe194Ser	611570.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	207	COG0158	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Phe194Ser	611570.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	243	cd00354	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Phe194Ser	611570.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	203	pfam00316	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Pro284Arg	611570.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	365	cd01637	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Pro284Arg	611570.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	339	cd01636	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Pro284Arg	611570.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	302	COG0158	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Pro284Arg	611570.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	361	cd00354	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Pro284Arg	611570.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	298	pfam00316	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Pro284Arg	611570.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	365	cd01637	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Pro284Arg	611570.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	339	cd01636	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Pro284Arg	611570.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	302	COG0158	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Pro284Arg	611570.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	361	cd00354	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Pro284Arg	611570.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611570	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	OMIM	298	pfam00316	16579888,NP_000498|189083692,NP_001121100
7380	54042316	Disease	p.Pro273Leu	611559.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611559	RENAL ADYSPLASIA	OMIM	No Domain	N/A	5902152,NP_008884
7380	266456217	Disease	p.Pro273Leu	611559.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611559	RENAL ADYSPLASIA	OMIM	No Domain	N/A	NULL
7380	54042316	Disease	p.Gly202Asp	611559.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611559	RENAL ADYSPLASIA	OMIM	No Domain	N/A	5902152,NP_008884
7380	266456217	Disease	p.Gly202Asp	611559.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611559	RENAL ADYSPLASIA	OMIM	No Domain	N/A	NULL
411	114223	Disease	p.Gly137Val	611542.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI, INTERMEDIATE	OMIM	150	COG3119	38569405,NP_000037
411	114223	Disease	p.Gly137Val	611542.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI, INTERMEDIATE	OMIM	143	pfam00884	38569405,NP_000037
411	38569407	Disease	p.Gly137Val	611542.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI, INTERMEDIATE	OMIM	150	COG3119	NULL
411	38569407	Disease	p.Gly137Val	611542.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI, INTERMEDIATE	OMIM	143	pfam00884	NULL
411	114223	Disease	p.Cys117Arg	611542.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI, SEVERE	OMIM	130	COG3119	38569405,NP_000037
411	114223	Disease	p.Cys117Arg	611542.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI, SEVERE	OMIM	114	pfam00884	38569405,NP_000037
411	38569407	Disease	p.Cys117Arg	611542.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI, SEVERE	OMIM	130	COG3119	NULL
411	38569407	Disease	p.Cys117Arg	611542.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI, SEVERE	OMIM	114	pfam00884	NULL
411	114223	Disease	p.Leu236Pro	611542.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI, MILD	OMIM	315	COG3119	38569405,NP_000037
411	114223	Disease	p.Leu236Pro	611542.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI, MILD	OMIM	326	pfam00884	38569405,NP_000037
411	38569407	Disease	p.Leu236Pro	611542.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI, MILD	OMIM	315	COG3119	NULL
411	38569407	Disease	p.Leu236Pro	611542.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI, MILD	OMIM	326	pfam00884	NULL
411	114223	Disease	p.Cys405Tyr	611542.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI, SEVERE	OMIM	551_G	COG3119	38569405,NP_000037
411	114223	Disease	p.Cys405Tyr	611542.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI, SEVERE	OMIM	692	pfam00884	38569405,NP_000037
411	38569407	Disease	p.Cys405Tyr	611542.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI, SEVERE	OMIM	642	COG3119	NULL
411	114223	Disease	p.Leu72Gln	611542.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI, SEVERE	OMIM	73	COG3119	38569405,NP_000037
411	114223	Disease	p.Leu72Gln	611542.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI, SEVERE	OMIM	55	pfam00884	38569405,NP_000037
411	38569407	Disease	p.Leu72Gln	611542.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI, SEVERE	OMIM	73	COG3119	NULL
411	38569407	Disease	p.Leu72Gln	611542.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI, SEVERE	OMIM	55	pfam00884	NULL
411	114223	Disease	p.Arg95Gln	611542.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI	OMIM	97	COG3119	38569405,NP_000037
411	114223	Disease	p.Arg95Gln	611542.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI	OMIM	92	pfam00884	38569405,NP_000037
411	38569407	Disease	p.Arg95Gln	611542.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI	OMIM	97	COG3119	NULL
411	38569407	Disease	p.Arg95Gln	611542.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI	OMIM	92	pfam00884	NULL
411	114223	Disease	p.Tyr210Cys	611542.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI	OMIM	270	COG3119	38569405,NP_000037
411	114223	Disease	p.Tyr210Cys	611542.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI	OMIM	296	pfam00884	38569405,NP_000037
411	38569407	Disease	p.Tyr210Cys	611542.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI	OMIM	270	COG3119	NULL
411	38569407	Disease	p.Tyr210Cys	611542.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI	OMIM	296	pfam00884	NULL
411	114223	Disease	p.His393Pro	611542.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI	OMIM	550	COG3119	38569405,NP_000037
411	114223	Disease	p.His393Pro	611542.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI	OMIM	661	pfam00884	38569405,NP_000037
411	38569407	Disease	p.His393Pro	611542.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI	OMIM	625	COG3119	NULL
411	38569407	Disease	p.His393Pro	611542.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611542	MUCOPOLYSACCHARIDOSIS TYPE VI	OMIM	661	pfam00884	NULL
10436	20532172	Disease	p.Asp86Gly	611531.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611531	BOWEN-CONRADI SYNDROME	OMIM	138	pfam03587	194328699,NP_006322
10436	20532172	Disease	p.Asp86Gly	611531.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611531	BOWEN-CONRADI SYNDROME	OMIM	67	COG1756	194328699,NP_006322
493856	74729013	Disease	p.Glu37Gln	611507.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611507	WOLFRAM SYNDROME 2	OMIM	37	pfam10660	56605994,NP_001008389
2990	146345377	Disease	p.Ala619Val	611499.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611499	MUCOPOLYSACCHARIDOSIS TYPE VII	OMIM	352	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Arg382Cys	611499.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611499	MUCOPOLYSACCHARIDOSIS TYPE VII	OMIM	56	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Arg216Trp	611499.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611499	MUCOPOLYSACCHARIDOSIS TYPE VII	OMIM	295	pfam02837	268834192,NP_000172
2990	146345377	Disease	p.Ala354Val	611499.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611499	MUCOPOLYSACCHARIDOSIS TYPE VII	OMIM	27	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Arg611Trp	611499.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611499	MUCOPOLYSACCHARIDOSIS TYPE VII	OMIM	344	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Pro148Ser	611499.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611499	MUCOPOLYSACCHARIDOSIS TYPE VII	OMIM	212	pfam02837	268834192,NP_000172
2990	146345377	Disease	p.Tyr495Cys	611499.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611499	MUCOPOLYSACCHARIDOSIS TYPE VII	OMIM	202	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Leu176Phe	611499.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611499	MUCOPOLYSACCHARIDOSIS TYPE VII	OMIM	246	pfam02837	268834192,NP_000172
2990	146345377	Disease	p.Lys350Asn	611499.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611499	MUCOPOLYSACCHARIDOSIS TYPE VII	OMIM	23	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Arg577Leu	611499.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611499	MUCOPOLYSACCHARIDOSIS TYPE VII	OMIM	306	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Trp627Cys	611499.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611499	MUCOPOLYSACCHARIDOSIS TYPE VII	OMIM	360	pfam02836	268834192,NP_000172
126410	74748981	Disease	p.His435Tyr	611495.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611495	ICHTHYOSIS, LAMELLAR, 3	OMIM	448	pfam00067	158138530,NP_775754
126410	74748981	Disease	p.His435Tyr	611495.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611495	ICHTHYOSIS, LAMELLAR, 3	OMIM	447	COG2124	158138530,NP_775754
126410	74748981	Disease	p.His436Asp	611495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611495	ICHTHYOSIS, LAMELLAR, 3	OMIM	449	pfam00067	158138530,NP_775754
126410	74748981	Disease	p.His436Asp	611495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611495	ICHTHYOSIS, LAMELLAR, 3	OMIM	448	COG2124	158138530,NP_775754
126410	74748981	Disease	p.Arg243His	611495.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611495	ICHTHYOSIS, LAMELLAR, 3	OMIM	217	pfam00067	158138530,NP_775754
126410	74748981	Disease	p.Arg243His	611495.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611495	ICHTHYOSIS, LAMELLAR, 3	OMIM	236	COG2124	158138530,NP_775754
760	115456	Disease	p.Asn252Asp	611492.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	231	cd03149	4557395,NP_000058
760	115456	Disease	p.Asn252Asp	611492.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	231	cd03118	4557395,NP_000058
760	115456	Disease	p.Asn252Asp	611492.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	641	cd00326	4557395,NP_000058
760	115456	Disease	p.Asn252Asp	611492.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	278	cd03117	4557395,NP_000058
760	115456	Disease	p.Asn252Asp	611492.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	256	cd03119	4557395,NP_000058
760	115456	Disease	p.Asn252Asp	611492.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	275	COG3338	4557395,NP_000058
760	115456	Disease	p.Asn252Asp	611492.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	253	pfam00194	4557395,NP_000058
760	115456	Disease	p.Asn252Asp	611492.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	320	cd03123	4557395,NP_000058
760	115456	Disease	p.Asn252Asp	611492.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	251	cd03120	4557395,NP_000058
760	115456	Disease	p.Asn252Asp	611492.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	245	cd03126	4557395,NP_000058
760	115456	Disease	p.Asn252Asp	611492.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	239	cd03150	4557395,NP_000058
760	115456	Disease	p.Asn252Asp	611492.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	315	cd03125	4557395,NP_000058
760	115456	Disease	p.Asn252Asp	611492.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	361	cd03121	4557395,NP_000058
760	115456	Disease	p.Asn252Asp	611492.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	298	cd03122	4557395,NP_000058
760	115456	Disease	p.Asn252Asp	611492.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	586	cd03124	4557395,NP_000058
760	115456	Disease	p.Lys17Glu	611492.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	17	cd03119	4557395,NP_000058
760	115456	Disease	p.Lys17Glu	611492.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	66	COG3338	4557395,NP_000058
760	115456	Disease	p.Lys17Glu	611492.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	6	cd03123	4557395,NP_000058
760	115456	Disease	p.Lys17Glu	611492.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	5	cd03120	4557395,NP_000058
760	115456	Disease	p.Lys17Glu	611492.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	6	cd03126	4557395,NP_000058
760	115456	Disease	p.Lys17Glu	611492.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	6	cd03150	4557395,NP_000058
760	115456	Disease	p.Lys17Glu	611492.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	6	cd03125	4557395,NP_000058
760	115456	Disease	p.Lys17Glu	611492.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	9	cd03121	4557395,NP_000058
760	115456	Disease	p.Lys17Glu	611492.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	6	cd03122	4557395,NP_000058
760	115456	Disease	p.Lys17Glu	611492.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	6	cd03124	4557395,NP_000058
760	115456	Disease	p.Pro237His	611492.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	216	cd03149	4557395,NP_000058
760	115456	Disease	p.Pro237His	611492.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	216	cd03118	4557395,NP_000058
760	115456	Disease	p.Pro237His	611492.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	626	cd00326	4557395,NP_000058
760	115456	Disease	p.Pro237His	611492.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	263	cd03117	4557395,NP_000058
760	115456	Disease	p.Pro237His	611492.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	241	cd03119	4557395,NP_000058
760	115456	Disease	p.Pro237His	611492.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	258	COG3338	4557395,NP_000058
760	115456	Disease	p.Pro237His	611492.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	233	pfam00194	4557395,NP_000058
760	115456	Disease	p.Pro237His	611492.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	305	cd03123	4557395,NP_000058
760	115456	Disease	p.Pro237His	611492.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	230	cd03120	4557395,NP_000058
760	115456	Disease	p.Pro237His	611492.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	230	cd03126	4557395,NP_000058
760	115456	Disease	p.Pro237His	611492.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	224	cd03150	4557395,NP_000058
760	115456	Disease	p.Pro237His	611492.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	300	cd03125	4557395,NP_000058
760	115456	Disease	p.Pro237His	611492.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	346	cd03121	4557395,NP_000058
760	115456	Disease	p.Pro237His	611492.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	283	cd03122	4557395,NP_000058
760	115456	Disease	p.Pro237His	611492.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	CARBONIC ANHYDRASE II VARIANT	OMIM	571	cd03124	4557395,NP_000058
760	115456	Disease	p.His107Tyr	611492.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3	OMIM	83	cd03149	4557395,NP_000058
760	115456	Disease	p.His107Tyr	611492.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3	OMIM	83	cd03118	4557395,NP_000058
760	115456	Disease	p.His107Tyr	611492.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3	OMIM	190	cd00326	4557395,NP_000058
760	115456	Disease	p.His107Tyr	611492.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3	OMIM	103	cd03117	4557395,NP_000058
760	115456	Disease	p.His107Tyr	611492.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3	OMIM	107	cd03119	4557395,NP_000058
760	115456	Disease	p.His107Tyr	611492.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3	OMIM	149	COG3338	4557395,NP_000058
760	115456	Disease	p.His107Tyr	611492.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3	OMIM	96	pfam00194	4557395,NP_000058
760	115456	Disease	p.His107Tyr	611492.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3	OMIM	97	cd03123	4557395,NP_000058
760	115456	Disease	p.His107Tyr	611492.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3	OMIM	96	cd03120	4557395,NP_000058
760	115456	Disease	p.His107Tyr	611492.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3	OMIM	95	cd03126	4557395,NP_000058
760	115456	Disease	p.His107Tyr	611492.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3	OMIM	95	cd03150	4557395,NP_000058
760	115456	Disease	p.His107Tyr	611492.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3	OMIM	97	cd03125	4557395,NP_000058
760	115456	Disease	p.His107Tyr	611492.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3	OMIM	172	cd03121	4557395,NP_000058
760	115456	Disease	p.His107Tyr	611492.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3	OMIM	140	cd03122	4557395,NP_000058
760	115456	Disease	p.His107Tyr	611492.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611492	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3	OMIM	159	cd03124	4557395,NP_000058
2720	119372312	Disease	p.Arg49Cys	611458.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	60	COG1874	NULL
2720	119372312	Disease	p.Arg49Cys	611458.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	41	pfam01301	NULL
2720	119372312	Disease	p.Arg49Cys	611458.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	28	pfam02449	NULL
2720	215273939	Disease	p.Arg49Cys	611458.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	16	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg49Cys	611458.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	10	pfam01301	119372308,NP_000395
2720	208022658	Disease	p.Arg49Cys	611458.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	10	pfam01301	NULL
2720	119372312	Disease	p.Arg201Cys	611458.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE II	OMIM	291	COG1874	NULL
2720	119372312	Disease	p.Arg201Cys	611458.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE II	OMIM	211	pfam01301	NULL
2720	119372312	Disease	p.Arg201Cys	611458.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE II	OMIM	290	pfam02449	NULL
2720	215273939	Disease	p.Arg201Cys	611458.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE II	OMIM	181	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Arg201Cys	611458.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE II	OMIM	245_G	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg201Cys	611458.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE II	OMIM	177	pfam01301	119372308,NP_000395
2720	208022658	Disease	p.Arg201Cys	611458.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE II	OMIM	350	pfam01301	NULL
2720	119372312	Disease	p.Ile51Thr	611458.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE III	OMIM	62	COG1874	NULL
2720	119372312	Disease	p.Ile51Thr	611458.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE III	OMIM	43	pfam01301	NULL
2720	119372312	Disease	p.Ile51Thr	611458.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE III	OMIM	30	pfam02449	NULL
2720	215273939	Disease	p.Ile51Thr	611458.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE III	OMIM	18	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Ile51Thr	611458.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE III	OMIM	12	pfam01301	119372308,NP_000395
2720	208022658	Disease	p.Ile51Thr	611458.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE III	OMIM	12	pfam01301	NULL
2720	119372312	Disease	p.Gly123Arg	611458.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	168	COG1874	NULL
2720	119372312	Disease	p.Gly123Arg	611458.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	121	pfam01301	NULL
2720	119372312	Disease	p.Gly123Arg	611458.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	129	pfam02449	NULL
2720	215273939	Disease	p.Gly123Arg	611458.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	77	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Gly123Arg	611458.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	109	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Gly123Arg	611458.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	88	pfam01301	119372308,NP_000395
2720	208022658	Disease	p.Gly123Arg	611458.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	227	pfam01301	NULL
2720	119372312	Disease	p.Tyr316Cys	611458.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	482	COG1874	NULL
2720	119372312	Disease	p.Tyr316Cys	611458.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	365	pfam01301	NULL
2720	119372312	Disease	p.Tyr316Cys	611458.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	451	pfam02449	NULL
2720	215273939	Disease	p.Tyr316Cys	611458.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	436	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Tyr316Cys	611458.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	436	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Tyr316Cys	611458.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	328	pfam01301	119372308,NP_000395
2720	208022658	Disease	p.Tyr316Cys	611458.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	No Domain	N/A	NULL
2720	119372312	Disease	p.Arg457Gln	611458.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE III	OMIM	741	COG1874	NULL
2720	215273939	Disease	p.Arg457Gln	611458.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE III	OMIM	694	COG1874	119372308,NP_000395
2720	208022658	Disease	p.Arg457Gln	611458.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE III	OMIM	No Domain	N/A	NULL
2720	119372312	Disease	p.Trp273Leu	611458.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	399	COG1874	NULL
2720	119372312	Disease	p.Trp273Leu	611458.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	315	pfam01301	NULL
2720	119372312	Disease	p.Trp273Leu	611458.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	419	pfam02449	NULL
2720	215273939	Disease	p.Trp273Leu	611458.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	369	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Trp273Leu	611458.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	347	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Trp273Leu	611458.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	272	pfam01301	119372308,NP_000395
2720	208022658	Disease	p.Trp273Leu	611458.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	No Domain	N/A	NULL
2720	119372312	Disease	p.Arg482His	611458.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B||GM1-GANGLIOSIDOSIS, TYPE I	OMIM	780	COG1874	NULL
2720	215273939	Disease	p.Arg482His	611458.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B||GM1-GANGLIOSIDOSIS, TYPE I	OMIM	734	COG1874	119372308,NP_000395
2720	208022658	Disease	p.Arg482His	611458.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B||GM1-GANGLIOSIDOSIS, TYPE I	OMIM	No Domain	N/A	NULL
2720	119372312	Disease	p.Trp509Cys	611458.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	813	COG1874	NULL
2720	215273939	Disease	p.Trp509Cys	611458.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	777	COG1874	119372308,NP_000395
2720	208022658	Disease	p.Trp509Cys	611458.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	No Domain	N/A	NULL
2720	119372312	Disease	p.Thr82Met	611458.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE III	OMIM	98	COG1874	NULL
2720	119372312	Disease	p.Thr82Met	611458.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE III	OMIM	77	pfam01301	NULL
2720	119372312	Disease	p.Thr82Met	611458.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE III	OMIM	66	pfam02449	NULL
2720	215273939	Disease	p.Thr82Met	611458.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE III	OMIM	32	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Thr82Met	611458.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE III	OMIM	63	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Thr82Met	611458.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE III	OMIM	44	pfam01301	119372308,NP_000395
2720	208022658	Disease	p.Thr82Met	611458.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE III	OMIM	44	pfam01301	NULL
2720	119372312	Disease	p.Tyr83His	611458.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	99	COG1874	NULL
2720	119372312	Disease	p.Tyr83His	611458.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	78	pfam01301	NULL
2720	119372312	Disease	p.Tyr83His	611458.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	67	pfam02449	NULL
2720	215273939	Disease	p.Tyr83His	611458.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	33	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Tyr83His	611458.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	65	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Tyr83His	611458.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	45	pfam01301	119372308,NP_000395
2720	208022658	Disease	p.Tyr83His	611458.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	54	pfam01301	NULL
2720	119372312	Disease	p.Arg482Cys	611458.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	780	COG1874	NULL
2720	215273939	Disease	p.Arg482Cys	611458.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	734	COG1874	119372308,NP_000395
2720	208022658	Disease	p.Arg482Cys	611458.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	No Domain	N/A	NULL
2720	119372312	Disease	p.Arg208Cys	611458.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	299	COG1874	NULL
2720	119372312	Disease	p.Arg208Cys	611458.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	221	pfam01301	NULL
2720	119372312	Disease	p.Arg208Cys	611458.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	312	pfam02449	NULL
2720	215273939	Disease	p.Arg208Cys	611458.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	215	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Arg208Cys	611458.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	251	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg208Cys	611458.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	185	pfam01301	119372308,NP_000395
2720	208022658	Disease	p.Arg208Cys	611458.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I	OMIM	357	pfam01301	NULL
2720	119372312	Disease	p.Gly438Glu	611458.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	717	COG1874	NULL
2720	215273939	Disease	p.Gly438Glu	611458.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	663	COG1874	119372308,NP_000395
2720	208022658	Disease	p.Gly438Glu	611458.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	No Domain	N/A	NULL
2720	119372312	Disease	p.Thr500Ala	611458.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	803	COG1874	NULL
2720	215273939	Disease	p.Thr500Ala	611458.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	768	COG1874	119372308,NP_000395
2720	208022658	Disease	p.Thr500Ala	611458.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	No Domain	N/A	NULL
2720	119372312	Disease	p.Gln408Pro	611458.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	663	COG1874	NULL
2720	215273939	Disease	p.Gln408Pro	611458.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	600	COG1874	119372308,NP_000395
2720	208022658	Disease	p.Gln408Pro	611458.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	MORQUIO SYNDROME B	OMIM	No Domain	N/A	NULL
2720	119372312	Disease	p.Arg68Trp	611458.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE II	OMIM	80	COG1874	NULL
2720	119372312	Disease	p.Arg68Trp	611458.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE II	OMIM	61	pfam01301	NULL
2720	119372312	Disease	p.Arg68Trp	611458.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE II	OMIM	48	pfam02449	NULL
2720	215273939	Disease	p.Arg68Trp	611458.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE II	OMIM	17	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Arg68Trp	611458.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE II	OMIM	49	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg68Trp	611458.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE II	OMIM	30	pfam01301	119372308,NP_000395
2720	208022658	Disease	p.Arg68Trp	611458.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE II	OMIM	30	pfam01301	NULL
2720	119372312	Disease	p.Arg59His	611458.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT||GM1-GANGLIOSIDOSIS, TYPE I	OMIM	71	COG1874	NULL
2720	119372312	Disease	p.Arg59His	611458.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT||GM1-GANGLIOSIDOSIS, TYPE I	OMIM	51	pfam01301	NULL
2720	119372312	Disease	p.Arg59His	611458.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT||GM1-GANGLIOSIDOSIS, TYPE I	OMIM	39	pfam02449	NULL
2720	215273939	Disease	p.Arg59His	611458.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT||GM1-GANGLIOSIDOSIS, TYPE I	OMIM	38	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg59His	611458.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT||GM1-GANGLIOSIDOSIS, TYPE I	OMIM	20	pfam01301	119372308,NP_000395
2720	208022658	Disease	p.Arg59His	611458.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT||GM1-GANGLIOSIDOSIS, TYPE I	OMIM	20	pfam01301	NULL
2720	119372312	Disease	p.Tyr591Asn	611458.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT	OMIM	No Domain	N/A	NULL
2720	215273939	Disease	p.Tyr591Asn	611458.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT	OMIM	881	COG1874	119372308,NP_000395
2720	208022658	Disease	p.Tyr591Asn	611458.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT	OMIM	No Domain	N/A	NULL
2720	119372312	Disease	p.Tyr591Cys	611458.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT	OMIM	No Domain	N/A	NULL
2720	215273939	Disease	p.Tyr591Cys	611458.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT	OMIM	881	COG1874	119372308,NP_000395
2720	208022658	Disease	p.Tyr591Cys	611458.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611458	GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT	OMIM	No Domain	N/A	NULL
81704	299473744	Disease	p.Lys405Arg	611432.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611432	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
81704	158937439	Disease	p.Lys405Arg	611432.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611432	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	238231392,NP_982272
81704	302129691	Disease	p.Lys405Arg	611432.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611432	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
4948	90110050	Disease	p.Ala481Thr	611409.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	179	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Ala481Thr	611409.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	160	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Ala481Thr	611409.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	146	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Ala481Thr	611409.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	228	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Ala481Thr	611409.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	328	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Ala481Thr	611409.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	177	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Ala481Thr	611409.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	159	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Ala481Thr	611409.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	219	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Val443Ile	611409.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	135	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Val443Ile	611409.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	119	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Val443Ile	611409.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	106	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Val443Ile	611409.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	136	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Val443Ile	611409.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	207	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Val443Ile	611409.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	138	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Val443Ile	611409.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	121	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Val443Ile	611409.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	126	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Pro743Leu	611409.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	402	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Pro743Leu	611409.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	390	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Pro743Leu	611409.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	468	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Pro743Leu	611409.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	693	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Pro743Leu	611409.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	570	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Pro743Leu	611409.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	607	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Pro743Leu	611409.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	469	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Pro743Leu	611409.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	642	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Ala334Val	611409.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	8	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Ala334Val	611409.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	2	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Ala334Val	611409.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	60	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Trp679Cys	611409.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	340	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Trp679Cys	611409.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	327	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Trp679Cys	611409.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	404	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Trp679Cys	611409.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	624	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Trp679Cys	611409.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	505	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Trp679Cys	611409.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	543	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Trp679Cys	611409.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	405	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Trp679Cys	611409.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	581	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Asn489Asp	611409.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	187	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Asn489Asp	611409.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	162	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Asn489Asp	611409.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	154	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Asn489Asp	611409.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	236	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Asn489Asp	611409.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	336	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Asn489Asp	611409.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	185	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Asn489Asp	611409.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	167	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Asn489Asp	611409.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	227	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Arg305Trp	611409.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES||SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES	OMIM	11	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Arg419Gln	611409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	OMIM	103	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Arg419Gln	611409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	OMIM	87	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Arg419Gln	611409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	OMIM	83	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Arg419Gln	611409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	OMIM	103	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Arg419Gln	611409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	OMIM	180	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Arg419Gln	611409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	OMIM	114	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Arg419Gln	611409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	OMIM	96	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Arg419Gln	611409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	OMIM	101	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Met394Ile	611409.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	78	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Met394Ile	611409.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	62	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Met394Ile	611409.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	56	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Met394Ile	611409.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	77	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Met394Ile	611409.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	146	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Met394Ile	611409.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	89	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Met394Ile	611409.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	71	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Met394Ile	611409.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611409	ALBINISM, OCULOCUTANEOUS, TYPE II	OMIM	76	cd01115	157266326,NP_000266
55215	82830440	Disease	p.Arg1285Gln	611360.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611360	FANCONI ANEMIA, COMPLEMENTATION GROUP I	OMIM	No Domain	N/A	NULL
55215	212276518	Disease	p.Arg1285Gln	611360.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611360	FANCONI ANEMIA, COMPLEMENTATION GROUP I	OMIM	No Domain	N/A	164607124,NP_001106849
84282	269849639	Disease	p.Arg286His	611358.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611358	OVERGROWTH SYNDROME, RNF135-RELATED	OMIM	32	smart00589	37655167,NP_115698
84282	37655169	Disease	p.Arg286His	611358.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611358	OVERGROWTH SYNDROME, RNF135-RELATED	OMIM	No Domain	N/A	NULL
84282	297139721	Disease	p.Arg286His	611358.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611358	OVERGROWTH SYNDROME, RNF135-RELATED	OMIM	No Domain	N/A	NULL
3075	62739188	Disease	p.Ala69Ser	611313.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611313	MACULAR DEGENERATION, AGE-RELATED, 8, SUSCEPTIBILITY TO	OMIM	82	cd00033	NULL
3075	62739188	Disease	p.Ala69Ser	611313.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611313	MACULAR DEGENERATION, AGE-RELATED, 8, SUSCEPTIBILITY TO	OMIM	82	pfam00084	NULL
3075	62739188	Disease	p.Ala69Ser	611313.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611313	MACULAR DEGENERATION, AGE-RELATED, 8, SUSCEPTIBILITY TO	OMIM	93	smart00032	NULL
3075	62739186	Disease	p.Ala69Ser	611313.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611313	MACULAR DEGENERATION, AGE-RELATED, 8, SUSCEPTIBILITY TO	OMIM	82	cd00033	NULL
3075	62739186	Disease	p.Ala69Ser	611313.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611313	MACULAR DEGENERATION, AGE-RELATED, 8, SUSCEPTIBILITY TO	OMIM	82	pfam00084	NULL
3075	62739186	Disease	p.Ala69Ser	611313.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611313	MACULAR DEGENERATION, AGE-RELATED, 8, SUSCEPTIBILITY TO	OMIM	93	smart00032	NULL
79840	74734059	Disease	p.Arg57Gly	611290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611290	SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION	OMIM	72	pfam09302	13376142,NP_079058
79840	74734059	Disease	p.Cys123Arg	611290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611290	SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION	OMIM	166	pfam09302	13376142,NP_079058
57560	298160996	Disease	p.His105Gln	611177.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611177	ASPHYXIATING THORACIC DYSTROPHY 2	OMIM	95	smart00320	NULL
57560	298160996	Disease	p.His105Gln	611177.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611177	ASPHYXIATING THORACIC DYSTROPHY 2	OMIM	159	cd00200	NULL
57560	298160996	Disease	p.His105Gln	611177.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611177	ASPHYXIATING THORACIC DYSTROPHY 2	OMIM	49	pfam00400	NULL
57560	298160998	Disease	p.His105Gln	611177.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611177	ASPHYXIATING THORACIC DYSTROPHY 2	OMIM	95	smart00320	NULL
57560	298160998	Disease	p.His105Gln	611177.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611177	ASPHYXIATING THORACIC DYSTROPHY 2	OMIM	159	cd00200	NULL
57560	298160998	Disease	p.His105Gln	611177.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611177	ASPHYXIATING THORACIC DYSTROPHY 2	OMIM	49	pfam00400	NULL
57560	294862504	Disease	p.His105Gln	611177.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611177	ASPHYXIATING THORACIC DYSTROPHY 2	OMIM	32	COG2319	46409657,NP_065851
57560	294862504	Disease	p.His105Gln	611177.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611177	ASPHYXIATING THORACIC DYSTROPHY 2	OMIM	23	smart00320	46409657,NP_065851
57560	294862504	Disease	p.His105Gln	611177.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611177	ASPHYXIATING THORACIC DYSTROPHY 2	OMIM	247	cd00200	46409657,NP_065851
57560	294862504	Disease	p.His105Gln	611177.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611177	ASPHYXIATING THORACIC DYSTROPHY 2	OMIM	11	pfam00400	46409657,NP_065851
57560	298160996	Disease	p.Ala701Pro	611177.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611177	ASPHYXIATING THORACIC DYSTROPHY 2	OMIM	No Domain	N/A	NULL
57560	298160998	Disease	p.Ala701Pro	611177.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611177	ASPHYXIATING THORACIC DYSTROPHY 2	OMIM	No Domain	N/A	NULL
57560	294862504	Disease	p.Ala701Pro	611177.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611177	ASPHYXIATING THORACIC DYSTROPHY 2	OMIM	No Domain	N/A	46409657,NP_065851
7507	139816	Disease	p.Cys108Phe	611153.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611153	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A	OMIM	9	pfam01286	4507937,NP_000371
7507	139816	Disease	p.Cys108Phe	611153.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611153	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A	OMIM	175	COG5145	4507937,NP_000371
169026	289803009	Disease	p.Arg325Trp	611145.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611145	DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
169026	289803007	Disease	p.Arg325Trp	611145.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611145	DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
169026	289803013	Disease	p.Arg325Trp	611145.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611145	DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
169026	190358866	Disease	p.Arg325Trp	611145.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611145	DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO	OMIM	394	COG1230	64762489,NP_776250
169026	190358866	Disease	p.Arg325Trp	611145.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611145	DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO	OMIM	677	pfam01545	64762489,NP_776250
169026	190358866	Disease	p.Arg325Trp	611145.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611145	DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO	OMIM	313	COG0053	64762489,NP_776250
169026	289803003	Disease	p.Arg325Trp	611145.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611145	DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
256471	74730313	Disease	p.Gly310Asp	611124.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124	CEROID LIPOFUSCINOSIS, NEURONAL, 7	OMIM	409	pfam00083	22749525,NP_689991
256471	74730313	Disease	p.Gly310Asp	611124.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124	CEROID LIPOFUSCINOSIS, NEURONAL, 7	OMIM	570	pfam07690	22749525,NP_689991
256471	74730313	Disease	p.Gly310Asp	611124.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124	CEROID LIPOFUSCINOSIS, NEURONAL, 7	OMIM	558	cd06174	22749525,NP_689991
256471	74730313	Disease	p.Gly310Asp	611124.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124	CEROID LIPOFUSCINOSIS, NEURONAL, 7	OMIM	627	COG0477	22749525,NP_689991
256471	74730313	Disease	p.Gly429Asp	611124.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124	CEROID LIPOFUSCINOSIS, NEURONAL, 7	OMIM	589	pfam00083	22749525,NP_689991
256471	74730313	Disease	p.Gly429Asp	611124.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124	CEROID LIPOFUSCINOSIS, NEURONAL, 7	OMIM	686	pfam07690	22749525,NP_689991
256471	74730313	Disease	p.Gly429Asp	611124.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124	CEROID LIPOFUSCINOSIS, NEURONAL, 7	OMIM	762	cd06174	22749525,NP_689991
256471	74730313	Disease	p.Gly429Asp	611124.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124	CEROID LIPOFUSCINOSIS, NEURONAL, 7	OMIM	800	COG0477	22749525,NP_689991
256471	74730313	Disease	p.Tyr121Cys	611124.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124	CEROID LIPOFUSCINOSIS, NEURONAL, 7	OMIM	160	pfam00083	22749525,NP_689991
256471	74730313	Disease	p.Tyr121Cys	611124.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124	CEROID LIPOFUSCINOSIS, NEURONAL, 7	OMIM	196	pfam07690	22749525,NP_689991
256471	74730313	Disease	p.Tyr121Cys	611124.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124	CEROID LIPOFUSCINOSIS, NEURONAL, 7	OMIM	158	cd06174	22749525,NP_689991
256471	74730313	Disease	p.Tyr121Cys	611124.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124	CEROID LIPOFUSCINOSIS, NEURONAL, 7	OMIM	205	COG0477	22749525,NP_689991
256471	74730313	Disease	p.Pro412Leu	611124.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124	CEROID LIPOFUSCINOSIS, NEURONAL, 7	OMIM	572	pfam00083	22749525,NP_689991
256471	74730313	Disease	p.Pro412Leu	611124.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124	CEROID LIPOFUSCINOSIS, NEURONAL, 7	OMIM	668	pfam07690	22749525,NP_689991
256471	74730313	Disease	p.Pro412Leu	611124.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124	CEROID LIPOFUSCINOSIS, NEURONAL, 7	OMIM	745	cd06174	22749525,NP_689991
256471	74730313	Disease	p.Pro412Leu	611124.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124	CEROID LIPOFUSCINOSIS, NEURONAL, 7	OMIM	765	COG0477	22749525,NP_689991
256471	74730313	Disease	p.Thr294Lys	611124.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124	CEROID LIPOFUSCINOSIS, NEURONAL, 7	OMIM	393	pfam00083	22749525,NP_689991
256471	74730313	Disease	p.Thr294Lys	611124.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124	CEROID LIPOFUSCINOSIS, NEURONAL, 7	OMIM	538	pfam07690	22749525,NP_689991
256471	74730313	Disease	p.Thr294Lys	611124.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124	CEROID LIPOFUSCINOSIS, NEURONAL, 7	OMIM	520	cd06174	22749525,NP_689991
256471	74730313	Disease	p.Thr294Lys	611124.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611124	CEROID LIPOFUSCINOSIS, NEURONAL, 7	OMIM	589	COG0477	22749525,NP_689991
55975	289063409	Disease	p.Ser150Asn	611119.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611119	RETINITIS PIGMENTOSA 42	OMIM	56	pfam07707	NULL
55975	289063409	Disease	p.Ser150Asn	611119.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611119	RETINITIS PIGMENTOSA 42	OMIM	142	smart00875	NULL
55975	289063419	Disease	p.Ser150Asn	611119.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611119	RETINITIS PIGMENTOSA 42	OMIM	No Domain	N/A	NULL
55975	116242609	Disease	p.Ser150Asn	611119.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611119	RETINITIS PIGMENTOSA 42	OMIM	5	pfam07707	170784846,NP_001026880
55975	116242609	Disease	p.Ser150Asn	611119.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611119	RETINITIS PIGMENTOSA 42	OMIM	5	smart00875	170784846,NP_001026880
55975	289063409	Disease	p.Arg153Val	611119.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611119	RETINITIS PIGMENTOSA 42	OMIM	59	pfam07707	NULL
55975	289063409	Disease	p.Arg153Val	611119.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611119	RETINITIS PIGMENTOSA 42	OMIM	167	smart00875	NULL
55975	289063419	Disease	p.Arg153Val	611119.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611119	RETINITIS PIGMENTOSA 42	OMIM	No Domain	N/A	NULL
55975	116242609	Disease	p.Arg153Val	611119.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611119	RETINITIS PIGMENTOSA 42	OMIM	8	pfam07707	170784846,NP_001026880
55975	116242609	Disease	p.Arg153Val	611119.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611119	RETINITIS PIGMENTOSA 42	OMIM	9	smart00875	170784846,NP_001026880
55975	289063409	Disease	p.Arg153Thr	611119.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611119	RETINITIS PIGMENTOSA 42	OMIM	59	pfam07707	NULL
55975	289063409	Disease	p.Arg153Thr	611119.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611119	RETINITIS PIGMENTOSA 42	OMIM	167	smart00875	NULL
55975	289063419	Disease	p.Arg153Thr	611119.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611119	RETINITIS PIGMENTOSA 42	OMIM	No Domain	N/A	NULL
55975	116242609	Disease	p.Arg153Thr	611119.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611119	RETINITIS PIGMENTOSA 42	OMIM	8	pfam07707	170784846,NP_001026880
55975	116242609	Disease	p.Arg153Thr	611119.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611119	RETINITIS PIGMENTOSA 42	OMIM	9	smart00875	170784846,NP_001026880
121512	116241363	Disease	p.Met298Thr	611104.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611104	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H	OMIM	200	smart00325	198041928,NP_640334
121512	116241363	Disease	p.Met298Thr	611104.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611104	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H	OMIM	127	cd00160	198041928,NP_640334
121512	116241363	Disease	p.Met298Thr	611104.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611104	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H	OMIM	365	pfam00621	198041928,NP_640334
57449	111154080	Disease	p.Phe647Ser	611101.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611101	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4	OMIM	240	pfam00169	NULL
57449	111154080	Disease	p.Phe647Ser	611101.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611101	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4	OMIM	665	smart00233	NULL
57449	111154080	Disease	p.Phe647Ser	611101.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611101	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4	OMIM	293	cd00821	NULL
57449	38373682	Disease	p.Phe647Ser	611101.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611101	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4	OMIM	240	pfam00169	NULL
57449	38373682	Disease	p.Phe647Ser	611101.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611101	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4	OMIM	665	smart00233	NULL
57449	38373682	Disease	p.Phe647Ser	611101.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611101	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4	OMIM	293	cd00821	NULL
57449	160014162	Disease	p.Phe647Ser	611101.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611101	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4	OMIM	5	cd00821	111154078,NP_001036128
57449	160014162	Disease	p.Phe647Ser	611101.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611101	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4	OMIM	7	pfam00169	111154078,NP_001036128
57449	160014162	Disease	p.Phe647Ser	611101.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611101	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4	OMIM	7	smart00233	111154078,NP_001036128
57449	111154088	Disease	p.Phe647Ser	611101.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611101	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4	OMIM	240	pfam00169	NULL
57449	111154088	Disease	p.Phe647Ser	611101.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611101	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4	OMIM	665	smart00233	NULL
57449	111154088	Disease	p.Phe647Ser	611101.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611101	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4	OMIM	293	cd00821	NULL
57449	111154084	Disease	p.Phe647Ser	611101.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611101	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4	OMIM	No Domain	N/A	NULL
64419	117938274	Disease	p.Arg336Gln	611089.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611089	CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF	OMIM	No Domain	N/A	NULL
64419	118568016	Disease	p.Arg336Gln	611089.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611089	CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF	OMIM	No Domain	N/A	117938270,NP_001070993
64419	117938272	Disease	p.Arg336Gln	611089.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611089	CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF	OMIM	No Domain	N/A	NULL
64419	117938274	Disease	p.Tyr462Cys	611089.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611089	CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF	OMIM	No Domain	N/A	NULL
64419	118568016	Disease	p.Tyr462Cys	611089.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611089	CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF	OMIM	No Domain	N/A	117938270,NP_001070993
64419	117938272	Disease	p.Tyr462Cys	611089.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611089	CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF	OMIM	No Domain	N/A	NULL
56975	116174742	Disease	p.Gly365Arg	611061.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611061	RAINE SYNDROME	OMIM	27	pfam06702	NULL
56975	116174742	Disease	p.Leu374Arg	611061.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611061	RAINE SYNDROME	OMIM	36	pfam06702	NULL
56975	116174742	Disease	p.Arg535Trp	611061.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611061	RAINE SYNDROME	OMIM	296	pfam06702	NULL
56975	116174742	Disease	p.Gly365Glu	611061.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611061	RAINE SYNDROME	OMIM	27	pfam06702	NULL
26040	294862494	Disease	p.Ile871Thr	611060.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611060	SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME	OMIM	No Domain	N/A	194294554,NP_056374
26040	194294556	Disease	p.Ile871Thr	611060.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611060	SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME	OMIM	No Domain	N/A	NULL
26040	294862494	Disease	p.Asp868Asn	611060.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611060	SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME	OMIM	No Domain	N/A	194294554,NP_056374
26040	194294556	Disease	p.Asp868Asn	611060.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611060	SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME	OMIM	No Domain	N/A	NULL
26040	294862494	Disease	p.Asp868Ala	611060.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611060	SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME	OMIM	No Domain	N/A	194294554,NP_056374
26040	194294556	Disease	p.Asp868Ala	611060.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611060	SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME	OMIM	No Domain	N/A	NULL
26040	294862494	Disease	p.Gly870Asp	611060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611060	SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME	OMIM	No Domain	N/A	194294554,NP_056374
26040	194294556	Disease	p.Gly870Asp	611060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611060	SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME	OMIM	No Domain	N/A	NULL
26040	294862494	Disease	p.Gly870Ser	611060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611060	SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME	OMIM	No Domain	N/A	194294554,NP_056374
26040	194294556	Disease	p.Gly870Ser	611060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611060	SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME	OMIM	No Domain	N/A	NULL
92579	74733234	Disease	p.Arg253His	611045.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611045	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 4	OMIM	283	cd03381	24308434,NP_612396
92579	74733234	Disease	p.Leu185Pro	611045.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611045	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 4	OMIM	186	cd03381	24308434,NP_612396
92579	74733234	Disease	p.Leu185Pro	611045.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611045	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 4	OMIM	408	cd01610	24308434,NP_612396
92579	74733234	Disease	p.Leu185Pro	611045.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611045	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 4	OMIM	201	cd03392	24308434,NP_612396
92579	74733234	Disease	p.Leu185Pro	611045.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611045	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 4	OMIM	332	pfam01569	24308434,NP_612396
92579	74733234	Disease	p.Leu185Pro	611045.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611045	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 4	OMIM	284	COG0671	24308434,NP_612396
92579	74733234	Disease	p.Leu185Pro	611045.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611045	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 4	OMIM	234	cd03382	24308434,NP_612396
92579	74733234	Disease	p.Leu185Pro	611045.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611045	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 4	OMIM	128	cd03393	24308434,NP_612396
92579	74733234	Disease	p.Leu185Pro	611045.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611045	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 4	OMIM	224	smart00014	24308434,NP_612396
92579	74733234	Disease	p.Gly262Arg	611045.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611045	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 4	OMIM	292	cd03381	24308434,NP_612396
92579	74733234	Disease	p.Met116Val	611045.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611045	DURSUN SYNDROME	OMIM	88	cd03381	24308434,NP_612396
92579	74733234	Disease	p.Met116Val	611045.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611045	DURSUN SYNDROME	OMIM	167	cd01610	24308434,NP_612396
92579	74733234	Disease	p.Met116Val	611045.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611045	DURSUN SYNDROME	OMIM	135	cd03392	24308434,NP_612396
92579	74733234	Disease	p.Met116Val	611045.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611045	DURSUN SYNDROME	OMIM	163	pfam01569	24308434,NP_612396
92579	74733234	Disease	p.Met116Val	611045.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611045	DURSUN SYNDROME	OMIM	201	COG0671	24308434,NP_612396
92579	74733234	Disease	p.Met116Val	611045.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611045	DURSUN SYNDROME	OMIM	113	cd03382	24308434,NP_612396
92579	74733234	Disease	p.Met116Val	611045.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611045	DURSUN SYNDROME	OMIM	71	cd03393	24308434,NP_612396
92579	74733234	Disease	p.Met116Val	611045.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611045	DURSUN SYNDROME	OMIM	130	smart00014	24308434,NP_612396
79152	74749893	Disease	p.Asp35Tyr	611026.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611026	LEUKODYSTROPHY, DYSMYELINATING, WITH SPASTIC PARAPARESIS	OMIM	37	pfam00173	205360949,NP_077282
64423	166215588	Disease	p.Ser186Pro	610982.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610982	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5	OMIM	33	pfam06367	149999380,NP_071934
64423	14249316	Disease	p.Ser186Pro	610982.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610982	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5	OMIM	No Domain	N/A	NULL
64423	149999378	Disease	p.Ser186Pro	610982.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610982	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5	OMIM	33	pfam06367	NULL
64423	166215588	Disease	p.Arg218Gln	610982.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610982	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5	OMIM	98	pfam06367	149999380,NP_071934
64423	14249316	Disease	p.Arg218Gln	610982.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610982	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5	OMIM	No Domain	N/A	NULL
64423	149999378	Disease	p.Arg218Gln	610982.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610982	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5	OMIM	98	pfam06367	NULL
64423	166215588	Disease	p.Arg218Trp	610982.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610982	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5	OMIM	98	pfam06367	149999380,NP_071934
64423	14249316	Disease	p.Arg218Trp	610982.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610982	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5	OMIM	No Domain	N/A	NULL
64423	149999378	Disease	p.Arg218Trp	610982.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610982	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5	OMIM	98	pfam06367	NULL
64423	166215588	Disease	p.Arg214His	610982.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610982	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5	OMIM	94	pfam06367	149999380,NP_071934
64423	14249316	Disease	p.Arg214His	610982.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610982	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5	OMIM	No Domain	N/A	NULL
64423	149999378	Disease	p.Arg214His	610982.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610982	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5	OMIM	94	pfam06367	NULL
64423	166215588	Disease	p.Leu42Pro	610982.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610982	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5	OMIM	117	pfam06371	149999380,NP_071934
64423	14249316	Disease	p.Leu42Pro	610982.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610982	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5	OMIM	117	pfam06371	NULL
64423	149999378	Disease	p.Leu42Pro	610982.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610982	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5	OMIM	117	pfam06371	NULL
79068	148841515	Disease	p.Arg316Gln	610966.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610966	GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY DEATH	OMIM	No Domain	N/A	122937263,NP_001073901
51067	50401709	Disease	p.Phe52Leu	610957.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610957	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 2	OMIM	17_G	COG0162	94681057,NP_001035526
55157	74758347	Disease	p.Leu626Val	610956.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	692	COG0173	40789249,NP_060592
55157	74758347	Disease	p.Arg263Gln	610956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	374	COG1190	40789249,NP_060592
55157	74758347	Disease	p.Arg263Gln	610956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	114	cd00768	40789249,NP_060592
55157	74758347	Disease	p.Arg263Gln	610956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	305	COG0017	40789249,NP_060592
55157	74758347	Disease	p.Arg263Gln	610956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	122	pfam00152	40789249,NP_060592
55157	74758347	Disease	p.Arg263Gln	610956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	250	COG0173	40789249,NP_060592
55157	74758347	Disease	p.Arg263Gln	610956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	189	cd00776	40789249,NP_060592
55157	74758347	Disease	p.Arg263Gln	610956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	85	cd00775	40789249,NP_060592
55157	74758347	Disease	p.Arg263Gln	610956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	82	cd00777	40789249,NP_060592
55157	74758347	Disease	p.Arg263Gln	610956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	79	cd00669	40789249,NP_060592
55157	74758347	Disease	p.Cys152Phe	610956.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	261	COG1190	40789249,NP_060592
55157	74758347	Disease	p.Cys152Phe	610956.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	132	cd04317	40789249,NP_060592
55157	74758347	Disease	p.Cys152Phe	610956.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	143	COG0017	40789249,NP_060592
55157	74758347	Disease	p.Cys152Phe	610956.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	131	COG0173	40789249,NP_060592
55157	74758347	Disease	p.Cys152Phe	610956.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	86	cd04319	40789249,NP_060592
55157	74758347	Disease	p.Cys152Phe	610956.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	103	cd04316	40789249,NP_060592
55157	74758347	Disease	p.Ser45Gly	610956.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	43	COG1190	40789249,NP_060592
55157	74758347	Disease	p.Arg179His	610956.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	288	COG1190	40789249,NP_060592
55157	74758347	Disease	p.Arg179His	610956.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	173	cd04317	40789249,NP_060592
55157	74758347	Disease	p.Arg179His	610956.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	192	COG0017	40789249,NP_060592
55157	74758347	Disease	p.Arg179His	610956.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	14	pfam00152	40789249,NP_060592
55157	74758347	Disease	p.Arg179His	610956.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	161	COG0173	40789249,NP_060592
55157	74758347	Disease	p.Arg179His	610956.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	16	cd00776	40789249,NP_060592
55157	74758347	Disease	p.Leu613Phe	610956.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	609	COG0017	40789249,NP_060592
55157	74758347	Disease	p.Leu613Phe	610956.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	679	COG0173	40789249,NP_060592
55157	74758347	Disease	p.Leu626Gln	610956.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610956	LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION	OMIM	692	COG0173	40789249,NP_060592
23322	189217904	Disease	p.Thr615Pro	610937.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610937	JOUBERT SYNDROME 7	OMIM	41	pfam11618	NULL
23322	296434514	Disease	p.Thr615Pro	610937.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610937	JOUBERT SYNDROME 7	OMIM	41	pfam11618	118442834,NP_056087
23322	189217904	Disease	p.Ala695Pro	610937.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610937	JOUBERT SYNDROME 7	OMIM	133	pfam11618	NULL
23322	296434514	Disease	p.Ala695Pro	610937.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610937	JOUBERT SYNDROME 7	OMIM	133	pfam11618	118442834,NP_056087
23322	189217904	Disease	p.Ala229Thr	610937.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610937	RETINITIS PIGMENTOSA IN CILIOPATHIES, MODIFIER OF	OMIM	No Domain	N/A	NULL
23322	296434514	Disease	p.Ala229Thr	610937.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610937	RETINITIS PIGMENTOSA IN CILIOPATHIES, MODIFIER OF	OMIM	No Domain	N/A	118442834,NP_056087
23322	189217904	Disease	p.Ser659Pro	610937.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610937	COACH SYNDROME	OMIM	94	pfam11618	NULL
23322	296434514	Disease	p.Ser659Pro	610937.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610937	COACH SYNDROME	OMIM	94	pfam11618	118442834,NP_056087
29968	10863955	Disease	p.Asp100Ala	610936.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610936	PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY	OMIM	83	cd01494	NULL
29968	10863955	Disease	p.Asp100Ala	610936.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610936	PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY	OMIM	100	cd00611	NULL
29968	10863955	Disease	p.Asp100Ala	610936.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610936	PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY	OMIM	100	pfam00266	NULL
29968	10863955	Disease	p.Asp100Ala	610936.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610936	PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY	OMIM	106	COG1932	NULL
29968	20141815	Disease	p.Asp100Ala	610936.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610936	PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY	OMIM	83	cd01494	17402893,NP_478059
29968	20141815	Disease	p.Asp100Ala	610936.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610936	PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY	OMIM	100	cd00611	17402893,NP_478059
29968	20141815	Disease	p.Asp100Ala	610936.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610936	PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY	OMIM	104_G	COG0075	17402893,NP_478059
29968	20141815	Disease	p.Asp100Ala	610936.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610936	PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY	OMIM	100	pfam00266	17402893,NP_478059
29968	20141815	Disease	p.Asp100Ala	610936.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610936	PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY	OMIM	84	cd06451	17402893,NP_478059
29968	20141815	Disease	p.Asp100Ala	610936.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610936	PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY	OMIM	106	COG1932	17402893,NP_478059
135935	269784635	Disease	p.Arg355His	610934.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610934	PREMATURE OVARIAN FAILURE 5	OMIM	No Domain	N/A	NULL
29082	40548422	Disease	p.Asp129Val	610897.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610897	CATARACT, POSTERIOR POLAR, 3	OMIM	87	pfam03357	NULL
29082	40548422	Disease	p.Glu161Lys	610897.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610897	CATARACT, POSTERIOR POLAR, 3	OMIM	121	pfam03357	NULL
55640	46396034	Disease	p.Thr430Arg	610865.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610865	PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME	OMIM	706	pfam07690	190341091,NP_060261
55640	46396034	Disease	p.Thr430Arg	610865.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610865	PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME	OMIM	778	cd06174	190341091,NP_060261
55640	46396034	Disease	p.Thr430Arg	610865.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610865	PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME	OMIM	351	COG2814	190341091,NP_060261
55640	46396034	Disease	p.Thr430Arg	610865.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610865	PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME	OMIM	439	COG2271	190341091,NP_060261
55640	46396034	Disease	p.Thr430Arg	610865.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610865	PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME	OMIM	459	COG2223	190341091,NP_060261
55640	305632820	Disease	p.Thr430Arg	610865.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610865	PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME	OMIM	No Domain	N/A	NULL
55640	46396034	Disease	p.Leu398Val	610865.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610865	PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME	OMIM	637	pfam07690	190341091,NP_060261
55640	46396034	Disease	p.Leu398Val	610865.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610865	PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME	OMIM	652	cd06174	190341091,NP_060261
55640	46396034	Disease	p.Leu398Val	610865.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610865	PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME	OMIM	310	COG2814	190341091,NP_060261
55640	46396034	Disease	p.Leu398Val	610865.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610865	PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME	OMIM	390	COG2271	190341091,NP_060261
55640	46396034	Disease	p.Leu398Val	610865.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610865	PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME	OMIM	410	COG2223	190341091,NP_060261
55640	305632820	Disease	p.Leu398Val	610865.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610865	PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME	OMIM	No Domain	N/A	NULL
55640	46396034	Disease	p.Pro280Arg	610865.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610865	PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME	OMIM	392	pfam07690	190341091,NP_060261
55640	46396034	Disease	p.Pro280Arg	610865.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610865	PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME	OMIM	359	cd06174	190341091,NP_060261
55640	46396034	Disease	p.Pro280Arg	610865.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610865	PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME	OMIM	198	COG2814	190341091,NP_060261
55640	46396034	Disease	p.Pro280Arg	610865.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610865	PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME	OMIM	250	COG2271	190341091,NP_060261
55640	46396034	Disease	p.Pro280Arg	610865.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610865	PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME	OMIM	287	COG2223	190341091,NP_060261
55640	305632820	Disease	p.Pro280Arg	610865.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610865	PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME	OMIM	No Domain	N/A	NULL
178	116242491	Disease	p.Gly1448Arg	610860.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIa	OMIM	509	pfam06202	116734851,NP_000634|116734847,NP_000019|116734857,NP_000635|116734860,NP_000633
178	116242491	Disease	p.Gly1448Arg	610860.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIa	OMIM	811	COG3408	116734851,NP_000634|116734847,NP_000019|116734857,NP_000635|116734860,NP_000633
178	116734853	Disease	p.Gly1448Arg	610860.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIa	OMIM	864	COG3408	NULL
178	116734853	Disease	p.Gly1448Arg	610860.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIa	OMIM	525	pfam06202	NULL
178	116242491	Disease	p.Gly1448Arg	610860.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIa	OMIM	509	pfam06202	116734851,NP_000634|116734847,NP_000019|116734857,NP_000635|116734860,NP_000633
178	116242491	Disease	p.Gly1448Arg	610860.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIa	OMIM	811	COG3408	116734851,NP_000634|116734847,NP_000019|116734857,NP_000635|116734860,NP_000633
178	116242491	Disease	p.Gly1448Arg	610860.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIa	OMIM	509	pfam06202	116734851,NP_000634|116734847,NP_000019|116734857,NP_000635|116734860,NP_000633
178	116242491	Disease	p.Gly1448Arg	610860.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIa	OMIM	811	COG3408	116734851,NP_000634|116734847,NP_000019|116734857,NP_000635|116734860,NP_000633
178	116734849	Disease	p.Gly1448Arg	610860.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIa	OMIM	865	COG3408	NULL
178	116734849	Disease	p.Gly1448Arg	610860.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIa	OMIM	526	pfam06202	NULL
178	116242491	Disease	p.Gly1448Arg	610860.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIa	OMIM	509	pfam06202	116734851,NP_000634|116734847,NP_000019|116734857,NP_000635|116734860,NP_000633
178	116242491	Disease	p.Gly1448Arg	610860.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIa	OMIM	811	COG3408	116734851,NP_000634|116734847,NP_000019|116734857,NP_000635|116734860,NP_000633
178	116242491	Disease	p.Arg1147Gly	610860.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIc	OMIM	114	pfam06202	116734851,NP_000634|116734847,NP_000019|116734857,NP_000635|116734860,NP_000633
178	116242491	Disease	p.Arg1147Gly	610860.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIc	OMIM	459	COG3408	116734851,NP_000634|116734847,NP_000019|116734857,NP_000635|116734860,NP_000633
178	116734853	Disease	p.Arg1147Gly	610860.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIc	OMIM	491	COG3408	NULL
178	116734853	Disease	p.Arg1147Gly	610860.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIc	OMIM	134	pfam06202	NULL
178	116242491	Disease	p.Arg1147Gly	610860.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIc	OMIM	114	pfam06202	116734851,NP_000634|116734847,NP_000019|116734857,NP_000635|116734860,NP_000633
178	116242491	Disease	p.Arg1147Gly	610860.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIc	OMIM	459	COG3408	116734851,NP_000634|116734847,NP_000019|116734857,NP_000635|116734860,NP_000633
178	116242491	Disease	p.Arg1147Gly	610860.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIc	OMIM	114	pfam06202	116734851,NP_000634|116734847,NP_000019|116734857,NP_000635|116734860,NP_000633
178	116242491	Disease	p.Arg1147Gly	610860.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIc	OMIM	459	COG3408	116734851,NP_000634|116734847,NP_000019|116734857,NP_000635|116734860,NP_000633
178	116734849	Disease	p.Arg1147Gly	610860.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIc	OMIM	492	COG3408	NULL
178	116734849	Disease	p.Arg1147Gly	610860.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIc	OMIM	135	pfam06202	NULL
178	116242491	Disease	p.Arg1147Gly	610860.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIc	OMIM	114	pfam06202	116734851,NP_000634|116734847,NP_000019|116734857,NP_000635|116734860,NP_000633
178	116242491	Disease	p.Arg1147Gly	610860.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610860	GLYCOGEN STORAGE DISEASE, TYPE IIIc	OMIM	459	COG3408	116734851,NP_000634|116734847,NP_000019|116734857,NP_000635|116734860,NP_000633
54977	74751821	Disease	p.Arg187Pro	610819.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610819	ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE	OMIM	125	pfam00153	157388925,NP_060345
23169	20140875	Disease	p.Thr65Pro	610804.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610804	SCHNECKENBECKEN DYSPLASIA	OMIM	30	COG5070	14028875,NP_055954
23169	20140875	Disease	p.Thr65Pro	610804.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610804	SCHNECKENBECKEN DYSPLASIA	OMIM	46	COG0697	14028875,NP_055954
22845	20140913	Disease	p.Cys99Ser	610746.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610746	DOLICHOL KINASE DEFICIENCY	OMIM	No Domain	N/A	7662482,NP_055723
22845	20140913	Disease	p.Tyr441Ser	610746.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610746	DOLICHOL KINASE DEFICIENCY	OMIM	143	COG0170	7662482,NP_055723
64220	74733466	Disease	p.Pro293Leu	610745.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	217330580,NP_001136089|217330578,NP_071764|217330582,NP_001136090
64220	74733466	Disease	p.Pro293Leu	610745.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	217330580,NP_001136089|217330578,NP_071764|217330582,NP_001136090
64220	217330586	Disease	p.Pro293Leu	610745.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	NULL
64220	217330584	Disease	p.Pro293Leu	610745.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	NULL
64220	74733466	Disease	p.Pro293Leu	610745.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	217330580,NP_001136089|217330578,NP_071764|217330582,NP_001136090
64220	74733466	Disease	p.Arg655Cys	610745.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	217330580,NP_001136089|217330578,NP_071764|217330582,NP_001136090
64220	74733466	Disease	p.Arg655Cys	610745.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	217330580,NP_001136089|217330578,NP_071764|217330582,NP_001136090
64220	217330586	Disease	p.Arg655Cys	610745.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	NULL
64220	217330584	Disease	p.Arg655Cys	610745.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	NULL
64220	74733466	Disease	p.Arg655Cys	610745.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	217330580,NP_001136089|217330578,NP_071764|217330582,NP_001136090
64220	74733466	Disease	p.Thr644Met	610745.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	217330580,NP_001136089|217330578,NP_071764|217330582,NP_001136090
64220	74733466	Disease	p.Thr644Met	610745.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	217330580,NP_001136089|217330578,NP_071764|217330582,NP_001136090
64220	217330586	Disease	p.Thr644Met	610745.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	NULL
64220	217330584	Disease	p.Thr644Met	610745.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	NULL
64220	74733466	Disease	p.Thr644Met	610745.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	217330580,NP_001136089|217330578,NP_071764|217330582,NP_001136090
64220	74733466	Disease	p.Pro90Leu	610745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	217330580,NP_001136089|217330578,NP_071764|217330582,NP_001136090
64220	74733466	Disease	p.Pro90Leu	610745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	217330580,NP_001136089|217330578,NP_071764|217330582,NP_001136090
64220	217330586	Disease	p.Pro90Leu	610745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	NULL
64220	217330584	Disease	p.Pro90Leu	610745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	NULL
64220	74733466	Disease	p.Pro90Leu	610745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	217330580,NP_001136089|217330578,NP_071764|217330582,NP_001136090
64220	74733466	Disease	p.Thr321Pro	610745.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	217330580,NP_001136089|217330578,NP_071764|217330582,NP_001136090
64220	74733466	Disease	p.Thr321Pro	610745.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	217330580,NP_001136089|217330578,NP_071764|217330582,NP_001136090
64220	217330586	Disease	p.Thr321Pro	610745.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	NULL
64220	217330584	Disease	p.Thr321Pro	610745.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	NULL
64220	74733466	Disease	p.Thr321Pro	610745.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610745	MICROPHTHALMIA, SYNDROMIC 9	OMIM	No Domain	N/A	217330580,NP_001136089|217330578,NP_071764|217330582,NP_001136090
219844	74732277	Disease	p.Asp211Gly	610693.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610693	HYDROLETHALUS SYNDROME	OMIM	No Domain	N/A	198278446,NP_001128265|21450731,NP_659451
219844	74732277	Disease	p.Asp211Gly	610693.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610693	HYDROLETHALUS SYNDROME	OMIM	No Domain	N/A	198278446,NP_001128265|21450731,NP_659451
26275	146324905	Disease	p.Tyr122Cys	610690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610690	3-@HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY	OMIM	192	cd06558	37594471,NP_055177
26275	146324905	Disease	p.Tyr122Cys	610690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610690	3-@HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY	OMIM	147	COG1024	37594471,NP_055177
26275	146324905	Disease	p.Tyr122Cys	610690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610690	3-@HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY	OMIM	77	pfam00378	37594471,NP_055177
26275	146324905	Disease	p.Tyr122Cys	610690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610690	3-@HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY	OMIM	142	COG0447	37594471,NP_055177
26275	37594469	Disease	p.Tyr122Cys	610690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610690	3-@HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY	OMIM	192	cd06558	NULL
26275	37594469	Disease	p.Tyr122Cys	610690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610690	3-@HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY	OMIM	147	COG1024	NULL
26275	37594469	Disease	p.Tyr122Cys	610690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610690	3-@HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY	OMIM	77	pfam00378	NULL
26275	37594469	Disease	p.Tyr122Cys	610690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610690	3-@HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY	OMIM	142	COG0447	NULL
166379	296434408	Disease	p.Ala289Pro	610683.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610683	BARDET-BIEDL SYNDROME 12	OMIM	No Domain	N/A	295821198,NP_001171478|40217788,NP_689831
166379	296434408	Disease	p.Ala289Pro	610683.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610683	BARDET-BIEDL SYNDROME 12	OMIM	No Domain	N/A	295821198,NP_001171478|40217788,NP_689831
5213	125126	Disease	p.Arg39Pro	610681.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	24	pfam00365	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Pro	610681.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	24	cd00763	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Pro	610681.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	24	cd00363	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Pro	610681.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	27	cd00764	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Pro	610681.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	26	COG0205	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	266453619	Disease	p.Arg39Pro	610681.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	No Domain	N/A	NULL
5213	125126	Disease	p.Arg39Pro	610681.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	24	pfam00365	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Pro	610681.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	24	cd00763	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Pro	610681.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	24	cd00363	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Pro	610681.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	27	cd00764	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Pro	610681.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	26	COG0205	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Pro	610681.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	24	pfam00365	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Pro	610681.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	24	cd00763	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Pro	610681.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	24	cd00363	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Pro	610681.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	27	cd00764	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Pro	610681.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	26	COG0205	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Asp543Ala	610681.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	140	cd00763	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Asp543Ala	610681.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	165	pfam00365	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Asp543Ala	610681.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	170	cd00363	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Asp543Ala	610681.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	270	COG0205	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Asp543Ala	610681.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	549	cd00764	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	266453619	Disease	p.Asp543Ala	610681.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	75	pfam00365	NULL
5213	266453619	Disease	p.Asp543Ala	610681.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	78	cd00363	NULL
5213	266453619	Disease	p.Asp543Ala	610681.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	477	cd00764	NULL
5213	266453619	Disease	p.Asp543Ala	610681.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	71_G	cd00763	NULL
5213	266453619	Disease	p.Asp543Ala	610681.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	92	COG0205	NULL
5213	125126	Disease	p.Asp543Ala	610681.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	140	cd00763	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Asp543Ala	610681.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	165	pfam00365	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Asp543Ala	610681.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	170	cd00363	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Asp543Ala	610681.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	270	COG0205	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Asp543Ala	610681.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	549	cd00764	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Asp543Ala	610681.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	140	cd00763	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Asp543Ala	610681.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	165	pfam00365	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Asp543Ala	610681.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	170	cd00363	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Asp543Ala	610681.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	270	COG0205	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Asp543Ala	610681.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	549	cd00764	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Leu	610681.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	24	pfam00365	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Leu	610681.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	24	cd00763	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Leu	610681.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	24	cd00363	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Leu	610681.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	27	cd00764	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Leu	610681.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	26	COG0205	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	266453619	Disease	p.Arg39Leu	610681.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	No Domain	N/A	NULL
5213	125126	Disease	p.Arg39Leu	610681.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	24	pfam00365	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Leu	610681.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	24	cd00763	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Leu	610681.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	24	cd00363	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Leu	610681.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	27	cd00764	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Leu	610681.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	26	COG0205	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Leu	610681.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	24	pfam00365	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Leu	610681.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	24	cd00763	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Leu	610681.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	24	cd00363	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Leu	610681.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	27	cd00764	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Leu	610681.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	26	COG0205	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Trp686Cys	610681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	275_G	cd00763	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Trp686Cys	610681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	310	pfam00365	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Trp686Cys	610681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	405	cd00363	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Trp686Cys	610681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	511_G	COG0205	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Trp686Cys	610681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	696	cd00764	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	266453619	Disease	p.Trp686Cys	610681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	240	pfam00365	NULL
5213	266453619	Disease	p.Trp686Cys	610681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	243	cd00363	NULL
5213	266453619	Disease	p.Trp686Cys	610681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	621	cd00764	NULL
5213	266453619	Disease	p.Trp686Cys	610681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	211	cd00763	NULL
5213	266453619	Disease	p.Trp686Cys	610681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	354	COG0205	NULL
5213	125126	Disease	p.Trp686Cys	610681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	275_G	cd00763	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Trp686Cys	610681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	310	pfam00365	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Trp686Cys	610681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	405	cd00363	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Trp686Cys	610681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	511_G	COG0205	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Trp686Cys	610681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	696	cd00764	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Trp686Cys	610681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	275_G	cd00763	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Trp686Cys	610681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	310	pfam00365	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Trp686Cys	610681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	405	cd00363	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Trp686Cys	610681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	511_G	COG0205	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Trp686Cys	610681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	GLYCOGEN STORAGE DISEASE VII	OMIM	696	cd00764	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
79742	193804856	Disease	p.Trp686Cys	610681.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Trp686Cys	610681.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610681	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
9897	2495719	Disease	p.Val626Phe	610657.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610657	SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT	OMIM	672	pfam10266	120952851,NP_055661
9897	2495719	Disease	p.Leu619Phe	610657.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610657	SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT	OMIM	665	pfam10266	120952851,NP_055661
9897	2495719	Disease	p.Asn471Asp	610657.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610657	SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT	OMIM	498	pfam10266	120952851,NP_055661
2161	145275213	Disease	p.Cys571Ser	610619.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610619	FACTOR XII (WASHINGTON D.C.)	OMIM	362	cd00190	NULL
2161	145275213	Disease	p.Cys571Ser	610619.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610619	FACTOR XII (WASHINGTON D.C.)	OMIM	293	pfam00089	NULL
2161	145275213	Disease	p.Cys571Ser	610619.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610619	FACTOR XII (WASHINGTON D.C.)	OMIM	506	smart00020	NULL
2161	145275213	Disease	p.Arg353Pro	610619.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610619	FACTOR XII (LOCARNO)	OMIM	No Domain	N/A	NULL
2161	145275213	Disease	p.Tyr34Cys	610619.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610619	FACTOR XII (TENRI)	OMIM	No Domain	N/A	NULL
2161	145275213	Disease	p.Thr309Lys	610619.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610619	ANGIOEDEMA, HEREDITARY, TYPE III	OMIM	No Domain	N/A	NULL
2161	145275213	Disease	p.Thr309Arg	610619.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610619	ANGIOEDEMA, HEREDITARY, TYPE III	OMIM	No Domain	N/A	NULL
1584	215274267	Disease	p.Arg448His	610613.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	503	pfam00067	61743918,NP_000488
1584	215274267	Disease	p.Arg448His	610613.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	510	COG2124	61743918,NP_000488
1584	71067343	Disease	p.Arg448His	610613.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	No Domain	N/A	NULL
1584	215274267	Disease	p.Thr318Met	610613.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	336	pfam00067	61743918,NP_000488
1584	215274267	Disease	p.Thr318Met	610613.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	339	COG2124	61743918,NP_000488
1584	71067343	Disease	p.Thr318Met	610613.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	336	pfam00067	NULL
1584	71067343	Disease	p.Thr318Met	610613.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	339	COG2124	NULL
1584	215274267	Disease	p.Arg374Gln	610613.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	403	pfam00067	61743918,NP_000488
1584	215274267	Disease	p.Arg374Gln	610613.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	403	COG2124	61743918,NP_000488
1584	71067343	Disease	p.Arg374Gln	610613.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	403	pfam00067	NULL
1584	71067343	Disease	p.Arg374Gln	610613.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	403	COG2124	NULL
1584	215274267	Disease	p.Asn133His	610613.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	99	pfam00067	61743918,NP_000488
1584	215274267	Disease	p.Asn133His	610613.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	132	COG2124	61743918,NP_000488
1584	71067343	Disease	p.Asn133His	610613.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	99	pfam00067	NULL
1584	71067343	Disease	p.Asn133His	610613.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	132	COG2124	NULL
1584	215274267	Disease	p.Thr319Met	610613.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	337	pfam00067	61743918,NP_000488
1584	215274267	Disease	p.Thr319Met	610613.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	340	COG2124	61743918,NP_000488
1584	71067343	Disease	p.Thr319Met	610613.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	337	pfam00067	NULL
1584	71067343	Disease	p.Thr319Met	610613.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	340	COG2124	NULL
1584	215274267	Disease	p.Pro42Ser	610613.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	5	COG2124	61743918,NP_000488
1584	71067343	Disease	p.Pro42Ser	610613.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	5	COG2124	NULL
1584	215274267	Disease	p.Pro94Leu	610613.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	60	pfam00067	61743918,NP_000488
1584	215274267	Disease	p.Pro94Leu	610613.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	74	COG2124	61743918,NP_000488
1584	71067343	Disease	p.Pro94Leu	610613.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	60	pfam00067	NULL
1584	71067343	Disease	p.Pro94Leu	610613.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	74	COG2124	NULL
1584	215274267	Disease	p.Ala368Asp	610613.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	397	pfam00067	61743918,NP_000488
1584	215274267	Disease	p.Ala368Asp	610613.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	397	COG2124	61743918,NP_000488
1584	71067343	Disease	p.Ala368Asp	610613.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	397	pfam00067	NULL
1584	71067343	Disease	p.Ala368Asp	610613.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610613	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	OMIM	397	COG2124	NULL
768206	121939885	Disease	p.Cys2Tyr	610598.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610598	RETINITIS PIGMENTOSA 36	OMIM	No Domain	N/A	117606326,NP_001071088
64333	122939147	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	204	smart00233	NULL
64333	122939147	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	78	pfam00169	NULL
64333	122939147	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	145	cd00821	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	23	smart00324	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	28	cd04392	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	33	cd04388	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	38	cd04386	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	42	cd04404	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	50	cd04374	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	52	cd04396	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	42	cd04400	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	42	cd04391	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	36	cd04395	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	34	cd04402	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	41	cd04394	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	40	cd04382	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	21	pfam00620	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	23	cd00159	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	34	cd04385	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	46	cd04397	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	40	cd04373	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	38	cd04381	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	34	cd04387	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	35	cd04372	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	35	cd04398	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	40	cd04379	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	34	cd04403	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	34	cd04378	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	33	cd04407	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	40	cd04389	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	33	cd04406	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	34	cd04408	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	34	cd04409	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	33	cd04377	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	40	cd04390	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	38	cd04375	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	35	cd04384	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	38	cd04383	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	39	cd04393	NULL
64333	122939149	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	29	cd04376	NULL
64333	122939151	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	204	smart00233	NULL
64333	122939151	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	78	pfam00169	NULL
64333	122939151	Disease	p.Ala370Ser	610576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610576	CORONARY ARTERY SPASM 3, SUSCEPTIBILITY TO	OMIM	145	cd00821	NULL
343637	90970328	Disease	p.Gln65Arg	610573.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610573	ANONYCHIA CONGENITA	OMIM	No Domain	N/A	NULL
343637	97189858	Disease	p.Gln65Arg	610573.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610573	ANONYCHIA CONGENITA	OMIM	No Domain	N/A	83722284,NP_001025042
343637	90970328	Disease	p.Cys107Arg	610573.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610573	ANONYCHIA CONGENITA	OMIM	62	smart00261	NULL
343637	90970328	Disease	p.Cys107Arg	610573.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610573	ANONYCHIA CONGENITA	OMIM	44	cd00064	NULL
343637	97189858	Disease	p.Cys107Arg	610573.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610573	ANONYCHIA CONGENITA	OMIM	62	smart00261	83722284,NP_001025042
343637	97189858	Disease	p.Cys107Arg	610573.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610573	ANONYCHIA CONGENITA	OMIM	44	cd00064	83722284,NP_001025042
343637	90970328	Disease	p.Cys118Tyr	610573.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610573	ANONYCHIA CONGENITA	OMIM	102	smart00261	NULL
343637	90970328	Disease	p.Cys118Tyr	610573.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610573	ANONYCHIA CONGENITA	OMIM	66	cd00064	NULL
343637	97189858	Disease	p.Cys118Tyr	610573.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610573	ANONYCHIA CONGENITA	OMIM	102	smart00261	83722284,NP_001025042
343637	97189858	Disease	p.Cys118Tyr	610573.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610573	ANONYCHIA CONGENITA	OMIM	66	cd00064	83722284,NP_001025042
343637	90970328	Disease	p.Cys73Tyr	610573.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610573	ANONYCHIA CONGENITA	OMIM	No Domain	N/A	NULL
343637	97189858	Disease	p.Cys73Tyr	610573.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610573	ANONYCHIA CONGENITA	OMIM	No Domain	N/A	83722284,NP_001025042
57107	73620006	Disease	p.Ser382Leu	610564.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610564	COENZYME Q10 DEFICIENCY	OMIM	499	COG0142	169808399,NP_065114
57107	73620006	Disease	p.Ser382Leu	610564.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610564	COENZYME Q10 DEFICIENCY	OMIM	487	cd00867	169808399,NP_065114
57107	73620006	Disease	p.Ser382Leu	610564.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610564	COENZYME Q10 DEFICIENCY	OMIM	488	cd00385	169808399,NP_065114
57107	73620006	Disease	p.Ser382Leu	610564.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610564	COENZYME Q10 DEFICIENCY	OMIM	484	cd00685	169808399,NP_065114
79742	193804856	Disease	p.Ser382Leu	610564.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610564	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Ser382Leu	610564.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610564	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
4143	417297	Disease	p.Ile322Met	610550.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610550	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	71	pfam02773	4557737,NP_000420
4143	417297	Disease	p.Ile322Met	610550.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610550	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	375	COG0192	4557737,NP_000420
4143	417297	Disease	p.Ala55Asp	610550.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610550	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	63	pfam00438	4557737,NP_000420
4143	417297	Disease	p.Ala55Asp	610550.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610550	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	49	COG0192	4557737,NP_000420
4143	417297	Disease	p.Pro357Leu	610550.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610550	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	108	pfam02773	4557737,NP_000420
4143	417297	Disease	p.Pro357Leu	610550.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610550	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	413	COG0192	4557737,NP_000420
4143	417297	Disease	p.Leu305Pro	610550.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610550	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	54	pfam02773	4557737,NP_000420
4143	417297	Disease	p.Leu305Pro	610550.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610550	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	358	COG0192	4557737,NP_000420
4143	417297	Disease	p.Arg264His	610550.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610550	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	13	pfam02773	4557737,NP_000420
4143	417297	Disease	p.Arg264His	610550.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610550	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	317	COG0192	4557737,NP_000420
4143	417297	Disease	p.Arg264Cys	610550.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610550	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	13	pfam02773	4557737,NP_000420
4143	417297	Disease	p.Arg264Cys	610550.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610550	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	317	COG0192	4557737,NP_000420
4143	417297	Disease	p.Gly336Arg	610550.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610550	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	85	pfam02773	4557737,NP_000420
4143	417297	Disease	p.Gly336Arg	610550.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610550	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE	OMIM	389	COG0192	4557737,NP_000420
84668	77416421	Disease	p.Leu53Pro	610531.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610531	LEUKODYSTROPHY, HYPOMYELINATING, 5	OMIM	37	pfam09790	19923646,NP_115970
23400	213972619	Disease	p.Gly504Arg	610513.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610513	KUFOR-RAKEB SYNDROME	OMIM	675	COG2217	NULL
23400	213972619	Disease	p.Gly504Arg	610513.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610513	KUFOR-RAKEB SYNDROME	OMIM	627	COG0474	NULL
23400	213972619	Disease	p.Gly504Arg	610513.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610513	KUFOR-RAKEB SYNDROME	OMIM	330	COG2216	NULL
23400	213972621	Disease	p.Gly504Arg	610513.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610513	KUFOR-RAKEB SYNDROME	OMIM	675	COG2217	NULL
23400	213972621	Disease	p.Gly504Arg	610513.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610513	KUFOR-RAKEB SYNDROME	OMIM	627	COG0474	NULL
23400	213972621	Disease	p.Gly504Arg	610513.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610513	KUFOR-RAKEB SYNDROME	OMIM	330	COG2216	NULL
23400	14285364	Disease	p.Gly504Arg	610513.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610513	KUFOR-RAKEB SYNDROME	OMIM	670	COG2217	13435129,NP_071372
23400	14285364	Disease	p.Gly504Arg	610513.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610513	KUFOR-RAKEB SYNDROME	OMIM	325	COG2216	13435129,NP_071372
23400	14285364	Disease	p.Gly504Arg	610513.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610513	KUFOR-RAKEB SYNDROME	OMIM	622	COG0474	13435129,NP_071372
10483	20141794	Disease	p.Glu109Lys	610512.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	106	COG5047	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	289629267	Disease	p.Glu109Lys	610512.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	5	cd01468	NULL
10483	289629267	Disease	p.Glu109Lys	610512.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	106	COG5047	NULL
10483	20141794	Disease	p.Glu109Lys	610512.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	106	COG5047	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Glu109Lys	610512.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	106	COG5047	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Glu109Lys	610512.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	106	COG5047	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Arg14Trp	610512.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	11	COG5047	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	289629267	Disease	p.Arg14Trp	610512.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	11	COG5047	NULL
10483	20141794	Disease	p.Arg14Trp	610512.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	11	COG5047	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Arg14Trp	610512.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	11	COG5047	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Arg14Trp	610512.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	11	COG5047	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Arg530Trp	610512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	10	pfam04815	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Arg530Trp	610512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	542	COG5047	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	289629267	Disease	p.Arg530Trp	610512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	52	pfam04815	NULL
10483	289629267	Disease	p.Arg530Trp	610512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	560	COG5047	NULL
10483	20141794	Disease	p.Arg530Trp	610512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	10	pfam04815	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Arg530Trp	610512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	542	COG5047	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Arg530Trp	610512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	10	pfam04815	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Arg530Trp	610512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	542	COG5047	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Arg530Trp	610512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	10	pfam04815	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Arg530Trp	610512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610512	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II	OMIM	542	COG5047	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10484	143811354	Disease	p.Phe382Leu	610511.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610511	CRANIOLENTICULOSUTURAL DYSPLASIA	OMIM	388	COG5047	38202214,NP_006355
10484	143811354	Disease	p.Phe382Leu	610511.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610511	CRANIOLENTICULOSUTURAL DYSPLASIA	OMIM	282	pfam04811	38202214,NP_006355
10484	143811354	Disease	p.Phe382Leu	610511.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610511	CRANIOLENTICULOSUTURAL DYSPLASIA	OMIM	310	cd01478	38202214,NP_006355
10484	143811354	Disease	p.Phe382Leu	610511.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610511	CRANIOLENTICULOSUTURAL DYSPLASIA	OMIM	385	cd01468	38202214,NP_006355
138050	150378452	Disease	p.Pro311Leu	610453.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610453	MUCOPOLYSACCHARIDOSIS TYPE IIIC	OMIM	100	COG4299	NULL
138050	150378452	Disease	p.Pro311Leu	610453.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610453	MUCOPOLYSACCHARIDOSIS TYPE IIIC	OMIM	90	pfam07786	NULL
138050	150378452	Disease	p.Met510Lys	610453.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610453	MUCOPOLYSACCHARIDOSIS TYPE IIIC	OMIM	264	COG4299	NULL
138050	150378452	Disease	p.Arg344Cys	610453.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610453	MUCOPOLYSACCHARIDOSIS TYPE IIIC	OMIM	135	COG4299	NULL
138050	150378452	Disease	p.Arg344Cys	610453.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610453	MUCOPOLYSACCHARIDOSIS TYPE IIIC	OMIM	145	pfam07786	NULL
138050	150378452	Disease	p.Ser518Phe	610453.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610453	MUCOPOLYSACCHARIDOSIS TYPE IIIC	OMIM	272	COG4299	NULL
84839	74760880	Disease	p.Arg87Gln	610362.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610362	MACULAR DEGENERATION, AGE-RELATED, 6	OMIM	113	COG5576	14249388,NP_116142
84839	74760880	Disease	p.Gly137Arg	610362.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610362	CONE-ROD DYSTROPHY 11	OMIM	No Domain	N/A	14249388,NP_116142
84153	74730607	Disease	p.Arg69Trp	610330.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610330	AICARDI-GOUTIERES SYNDROME 3	OMIM	207	pfam08615	38176285,NP_115569
84153	74730607	Disease	p.Lys143Ile	610330.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610330	AICARDI-GOUTIERES SYNDROME 3	OMIM	483	pfam08615	38176285,NP_115569
79621	74745929	Disease	p.Ala177Thr	610326.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610326	AICARDI-GOUTIERES SYNDROME 2	OMIM	372	pfam09468	186910286,NP_078846
79621	214010191	Disease	p.Ala177Thr	610326.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610326	AICARDI-GOUTIERES SYNDROME 2	OMIM	372	pfam09468	NULL
79621	74745929	Disease	p.Val185Gly	610326.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610326	AICARDI-GOUTIERES SYNDROME 2	OMIM	386	pfam09468	186910286,NP_078846
79621	214010191	Disease	p.Val185Gly	610326.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610326	AICARDI-GOUTIERES SYNDROME 2	OMIM	386	pfam09468	NULL
145173	116243011	Disease	p.Gly393Glu	610308.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610308	PETERS-PLUS SYNDROME	OMIM	207	pfam02434	154689817,NP_919299
55024	260763960	Disease	p.Arg61His	610292.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610292	SYSTEMIC LUPUS ERYTHMATOSUS, ASSOCIATION WITH	OMIM	No Domain	N/A	NULL
55024	260763963	Disease	p.Arg61His	610292.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610292	SYSTEMIC LUPUS ERYTHMATOSUS, ASSOCIATION WITH	OMIM	No Domain	N/A	NULL
55024	260763966	Disease	p.Arg61His	610292.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610292	SYSTEMIC LUPUS ERYTHMATOSUS, ASSOCIATION WITH	OMIM	No Domain	N/A	NULL
285489	115311705	Disease	p.Gly180Ala	610285.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610285	MYASTHENIA, LIMB-GIRDLE, FAMILIAL	OMIM	108	pfam02174	111185957,NP_775931
285489	115311705	Disease	p.Gly180Ala	610285.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610285	MYASTHENIA, LIMB-GIRDLE, FAMILIAL	OMIM	77	cd01202	111185957,NP_775931
285489	257467680	Disease	p.Gly180Ala	610285.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610285	MYASTHENIA, LIMB-GIRDLE, FAMILIAL	OMIM	No Domain	N/A	NULL
84876	97180269	Disease	p.Arg91Trp	610277.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610277	IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 1	OMIM	29	pfam07856	38016943,NP_116179
55650	74752975	Disease	p.Ala341Glu	610274.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610274	HYPERPHOSPHATASIA WITH MENTAL RETARDATION	OMIM	383	pfam04188	21361771,NP_060307
55650	74752975	Disease	p.His385Pro	610274.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610274	HYPERPHOSPHATASIA WITH MENTAL RETARDATION	OMIM	469	pfam04188	21361771,NP_060307
55650	74752975	Disease	p.Gln256Lys	610274.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610274	HYPERPHOSPHATASIA WITH MENTAL RETARDATION	OMIM	286	pfam04188	21361771,NP_060307
55650	74752975	Disease	p.Ala341Val	610274.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610274	HYPERPHOSPHATASIA WITH MENTAL RETARDATION	OMIM	383	pfam04188	21361771,NP_060307
118813	291621671	Disease	p.Gly191Val	610243.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610243	SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
118813	74744927	Disease	p.Gly191Val	610243.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610243	SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	50557644,NP_653189
118813	50557646	Disease	p.Gly191Val	610243.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610243	SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
118813	50557648	Disease	p.Gly191Val	610243.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610243	SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
118813	291621669	Disease	p.Gly191Val	610243.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610243	SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
118813	291621673	Disease	p.Gly191Val	610243.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610243	SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
118813	291621675	Disease	p.Gly191Val	610243.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610243	SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
55687	8134740	Disease	p.Ala10Ser	610230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610230	DEAFNESS, MITOCHONDRIAL, MODIFIER OF	OMIM	5	cd01998	31542641,NP_060476
55687	8134740	Disease	p.Ala10Ser	610230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610230	DEAFNESS, MITOCHONDRIAL, MODIFIER OF	OMIM	9	COG0482	31542641,NP_060476
55687	8134740	Disease	p.Ala10Ser	610230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610230	DEAFNESS, MITOCHONDRIAL, MODIFIER OF	OMIM	4	cd01986	31542641,NP_060476
55687	8134740	Disease	p.Ala10Ser	610230.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610230	DEAFNESS, MITOCHONDRIAL, MODIFIER OF	OMIM	6	pfam03054	31542641,NP_060476
55687	8134740	Disease	p.Tyr77His	610230.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610230	LIVER FAILURE, ACUTE INFANTILE	OMIM	118	cd01998	31542641,NP_060476
55687	8134740	Disease	p.Tyr77His	610230.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610230	LIVER FAILURE, ACUTE INFANTILE	OMIM	89	COG0482	31542641,NP_060476
55687	8134740	Disease	p.Tyr77His	610230.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610230	LIVER FAILURE, ACUTE INFANTILE	OMIM	84	cd01986	31542641,NP_060476
55687	8134740	Disease	p.Tyr77His	610230.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610230	LIVER FAILURE, ACUTE INFANTILE	OMIM	86	pfam03054	31542641,NP_060476
55687	8134740	Disease	p.Gly272Asp	610230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610230	LIVER FAILURE, ACUTE INFANTILE	OMIM	417	cd01998	31542641,NP_060476
55687	8134740	Disease	p.Gly272Asp	610230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610230	LIVER FAILURE, ACUTE INFANTILE	OMIM	295	COG0482	31542641,NP_060476
55687	8134740	Disease	p.Gly272Asp	610230.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610230	LIVER FAILURE, ACUTE INFANTILE	OMIM	304	pfam03054	31542641,NP_060476
55687	8134740	Disease	p.Met1Lys	610230.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610230	LIVER FAILURE, ACUTE INFANTILE	OMIM	No Domain	N/A	31542641,NP_060476
494513	114152117	Disease	p.Arg183Trp	610219.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610219	DEAFNESS, AUTOSOMAL RECESSIVE 59	OMIM	221	pfam04598	111607457,NP_001036167
494513	114152117	Disease	p.Thr54Ile	610219.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610219	DEAFNESS, AUTOSOMAL RECESSIVE 59	OMIM	58_G	pfam04598	111607457,NP_001036167
83959	29611858	Disease	p.Arg755Gln	610206.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL ENDOTHELIAL DYSTROPHY 2	OMIM	453	pfam00955	14042960,NP_114423
83959	291490690	Disease	p.Arg755Gln	610206.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL ENDOTHELIAL DYSTROPHY 2	OMIM	427	pfam00955	NULL
83959	291490688	Disease	p.Arg755Gln	610206.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL ENDOTHELIAL DYSTROPHY 2	OMIM	469	pfam00955	NULL
83959	29611858	Disease	p.Ser489Leu	610206.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL ENDOTHELIAL DYSTROPHY 2	OMIM	149	pfam00955	14042960,NP_114423
83959	291490690	Disease	p.Ser489Leu	610206.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL ENDOTHELIAL DYSTROPHY 2	OMIM	122	pfam00955	NULL
83959	291490688	Disease	p.Ser489Leu	610206.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL ENDOTHELIAL DYSTROPHY 2	OMIM	165	pfam00955	NULL
83959	29611858	Disease	p.Gly464Asp	610206.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL ENDOTHELIAL DYSTROPHY 2	OMIM	124	pfam00955	14042960,NP_114423
83959	291490690	Disease	p.Gly464Asp	610206.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL ENDOTHELIAL DYSTROPHY 2	OMIM	97	pfam00955	NULL
83959	291490688	Disease	p.Gly464Asp	610206.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL ENDOTHELIAL DYSTROPHY 2	OMIM	140	pfam00955	NULL
83959	29611858	Disease	p.Arg869Cys	610206.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL ENDOTHELIAL DYSTROPHY 2	OMIM	No Domain	N/A	14042960,NP_114423
83959	291490690	Disease	p.Arg869Cys	610206.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL ENDOTHELIAL DYSTROPHY 2	OMIM	No Domain	N/A	NULL
83959	291490688	Disease	p.Arg869Cys	610206.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL ENDOTHELIAL DYSTROPHY 2	OMIM	No Domain	N/A	NULL
83959	29611858	Disease	p.Arg869His	610206.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL ENDOTHELIAL DYSTROPHY 2	OMIM	No Domain	N/A	14042960,NP_114423
83959	291490690	Disease	p.Arg869His	610206.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL ENDOTHELIAL DYSTROPHY 2	OMIM	No Domain	N/A	NULL
83959	291490688	Disease	p.Arg869His	610206.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL ENDOTHELIAL DYSTROPHY 2	OMIM	No Domain	N/A	NULL
83959	29611858	Disease	p.Arg488Lys	610206.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	OMIM	148	pfam00955	14042960,NP_114423
83959	291490690	Disease	p.Arg488Lys	610206.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	OMIM	121	pfam00955	NULL
83959	291490688	Disease	p.Arg488Lys	610206.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	OMIM	164	pfam00955	NULL
83959	29611858	Disease	p.Leu843Pro	610206.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	OMIM	No Domain	N/A	14042960,NP_114423
83959	291490690	Disease	p.Leu843Pro	610206.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	OMIM	529	pfam00955	NULL
83959	291490688	Disease	p.Leu843Pro	610206.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	OMIM	No Domain	N/A	NULL
83959	29611858	Disease	p.Ser213Pro	610206.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	OMIM	No Domain	N/A	14042960,NP_114423
83959	291490690	Disease	p.Ser213Pro	610206.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	OMIM	No Domain	N/A	NULL
83959	291490688	Disease	p.Ser213Pro	610206.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	OMIM	No Domain	N/A	NULL
83959	29611858	Disease	p.Met856Val	610206.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	OMIM	No Domain	N/A	14042960,NP_114423
83959	291490690	Disease	p.Met856Val	610206.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	OMIM	542	pfam00955	NULL
83959	291490688	Disease	p.Met856Val	610206.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	OMIM	No Domain	N/A	NULL
83959	29611858	Disease	p.Gly709Glu	610206.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4	OMIM	408	pfam00955	14042960,NP_114423
83959	291490690	Disease	p.Gly709Glu	610206.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4	OMIM	381	pfam00955	NULL
83959	291490688	Disease	p.Gly709Glu	610206.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4	OMIM	424	pfam00955	NULL
83959	29611858	Disease	p.Thr754Met	610206.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4	OMIM	452	pfam00955	14042960,NP_114423
83959	291490690	Disease	p.Thr754Met	610206.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4	OMIM	426	pfam00955	NULL
83959	291490688	Disease	p.Thr754Met	610206.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4	OMIM	468	pfam00955	NULL
83959	29611858	Disease	p.Glu399Lys	610206.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4	OMIM	59	pfam00955	14042960,NP_114423
83959	291490690	Disease	p.Glu399Lys	610206.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4	OMIM	35	pfam00955	NULL
83959	291490688	Disease	p.Glu399Lys	610206.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610206	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4	OMIM	75	pfam00955	NULL
55090	74734632	Disease	p.Ala335Val	610197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610197	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2	OMIM	No Domain	N/A	8922273,NP_060489
22948	1351211	Disease	p.His147Arg	610150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610150	NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE	OMIM	134	cd00309	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	610150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610150	NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE	OMIM	123	cd03338	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	610150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610150	NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE	OMIM	130	cd03344	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	610150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610150	NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE	OMIM	124	cd03341	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	610150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610150	NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE	OMIM	123	cd03335	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	610150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610150	NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE	OMIM	133	cd03340	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	610150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610150	NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE	OMIM	159	COG0459	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	610150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610150	NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE	OMIM	135	cd03336	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	610150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610150	NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE	OMIM	128	cd03342	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	610150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610150	NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE	OMIM	141	cd03339	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	610150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610150	NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE	OMIM	132	cd03337	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	610150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610150	NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE	OMIM	130	cd03343	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	610150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610150	NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE	OMIM	126	pfam00118	24307939,NP_036205
79738	97043964	Disease	p.Arg34Pro	610148.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610148	BARDET-BIEDL SYNDROME 10	OMIM	20	pfam00118	100816407,NP_078961
79738	97043964	Disease	p.Ser311Ala	610148.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610148	BARDET-BIEDL SYNDROME 10	OMIM	406	pfam00118	100816407,NP_078961
79738	97043964	Disease	p.Val11Gly	610148.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610148	BARDET-BIEDL SYNDROME 10	OMIM	No Domain	N/A	100816407,NP_078961
80184	116241294	Disease	p.Trp7Cys	610142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610142	JOUBERT SYNDROME 5	OMIM	No Domain	N/A	109255234,NP_079390
81839	38258809	Disease	p.Val239Ile	610132.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610132	CAUDAL REGRESSION SYNDROME	OMIM	271	pfam06638	20373171,NP_620409|289547198,NP_001165883
81839	289547194	Disease	p.Val239Ile	610132.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610132	CAUDAL REGRESSION SYNDROME	OMIM	273	pfam06638	NULL
81839	38258809	Disease	p.Val239Ile	610132.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610132	CAUDAL REGRESSION SYNDROME	OMIM	271	pfam06638	20373171,NP_620409|289547198,NP_001165883
81839	38258809	Disease	p.Arg274Gln	610132.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610132	NEURAL TUBE DEFECTS	OMIM	306	pfam06638	20373171,NP_620409|289547198,NP_001165883
81839	289547194	Disease	p.Arg274Gln	610132.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610132	NEURAL TUBE DEFECTS	OMIM	308	pfam06638	NULL
81839	38258809	Disease	p.Arg274Gln	610132.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610132	NEURAL TUBE DEFECTS	OMIM	306	pfam06638	20373171,NP_620409|289547198,NP_001165883
81839	38258809	Disease	p.Met328Thr	610132.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610132	NEURAL TUBE DEFECTS	OMIM	376	pfam06638	20373171,NP_620409|289547198,NP_001165883
81839	289547194	Disease	p.Met328Thr	610132.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610132	NEURAL TUBE DEFECTS	OMIM	378	pfam06638	NULL
81839	38258809	Disease	p.Met328Thr	610132.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610132	NEURAL TUBE DEFECTS	OMIM	376	pfam06638	20373171,NP_620409|289547198,NP_001165883
54414	74734243	Disease	p.Thr312Met	610079.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610079	AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6	OMIM	No Domain	N/A	24850115,NP_733746
54414	74734243	Disease	p.Cys196Phe	610079.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610079	AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6	OMIM	4	pfam03629	24850115,NP_733746
54414	74734243	Disease	p.Met89Val	610079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610079	AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6	OMIM	No Domain	N/A	24850115,NP_733746
54414	74734243	Disease	p.Phe404Ser	610079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610079	AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6	OMIM	No Domain	N/A	24850115,NP_733746
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	332	cd07151	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	347	cd07139	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	345	cd07138	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	346	cd07130	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	343	cd07126	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	352	cd07086	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	338	cd07131	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	316	cd07120	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	333	cd07106	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	343	cd07089	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	322	cd07109	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	326	cd07110	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	330	cd07093	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	320	cd07114	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	317	cd07107	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	335	cd07103	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	320	cd07092	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	317	cd07108	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	319	cd07115	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	324	cd07090	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	324	cd07099	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	316	cd07101	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	341	cd07098	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	350	cd07078	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	325	cd07087	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	297_G	cd07132	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	300	cd07134	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	469	cd07125	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	297	cd07136	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	346	cd07143	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	345	cd07141	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	312	cd07152	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	362	cd07083	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	389	cd07123	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	332	cd07135	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	348	cd07111	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	333	cd07117	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	342	cd07113	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	335	cd07088	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	338	cd07119	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	349	cd07144	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	303	cd07095	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	309	cd07105	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	305	cd07104	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	446	COG1012	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	343	cd07085	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	357	cd07128	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	337	cd07097	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	394	cd07124	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	342	cd07142	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	354	cd07091	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	433	pfam00171	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	477	COG4230	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	319	cd07118	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	342	cd07102	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	379	cd06534	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	304	cd07133	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	301	cd07137	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	332	cd07084	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	311	cd07100	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	321	cd07129	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	364	cd07082	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	346	cd07140	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	324	cd07112	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	326	cd07094	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	321	cd07150	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	321	cd07149	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	321	cd07148	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	329	cd07147	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	330	cd07145	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	324	cd07146	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	338	cd07116	NULL
7915	25777721	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	338	cd07559	NULL
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	345	cd07151	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	371	cd07086	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	357	cd07131	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	360	cd07139	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	358	cd07138	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	353	cd07126	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	359	cd07130	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	331	cd07120	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	338	cd07090	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	339	cd07110	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	330	cd07107	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	334	cd07092	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	332	cd07108	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	334	cd07114	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	356	cd07089	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	348	cd07106	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	350	cd07103	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	343	cd07093	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	335	cd07109	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	332	cd07115	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	329	cd07101	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	337	cd07099	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	355	cd07098	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	309	cd07132	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	313	cd07134	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	341	cd07087	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	367	cd07078	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	483	cd07125	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	308	cd07136	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	358	cd07141	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	359	cd07143	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	325	cd07152	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	376	cd07083	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	405	cd07123	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	348	cd07135	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	361	cd07111	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	362	cd07144	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	351	cd07119	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	346	cd07117	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	355	cd07113	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	348	cd07088	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	322	cd07105	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	318	cd07104	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	317	cd07095	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	463	COG1012	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	356	cd07085	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	370	cd07128	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	350	cd07097	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	407	cd07124	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	356	cd07142	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	368	cd07091	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	449	pfam00171	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	620	COG4230	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	356	cd07102	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	332	cd07118	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	317	cd07133	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	392	cd06534	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	345	cd07084	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	325	cd07100	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	313	cd07137	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	340	cd07129	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	377	cd07082	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	359	cd07140	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	337	cd07112	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	334	cd07148	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	343	cd07145	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	339	cd07094	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	342	cd07147	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	334	cd07150	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	334	cd07149	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	337	cd07146	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	351	cd07116	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	610045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610045	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	351	cd07559	4507229,NP_001071
149461	47606757	Disease	p.Gly20Asp	610036.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610036	HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT	OMIM	17	pfam00822	183979973,NP_683763
149461	297515502	Disease	p.Gly20Asp	610036.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610036	HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT	OMIM	17	pfam00822	NULL
149461	183979975	Disease	p.Gly20Asp	610036.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610036	HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT	OMIM	17	pfam00822	NULL
149461	47606757	Disease	p.Gln57Glu	610036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610036	HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT	OMIM	66	pfam00822	183979973,NP_683763
149461	297515502	Disease	p.Gln57Glu	610036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610036	HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT	OMIM	66	pfam00822	NULL
149461	183979975	Disease	p.Gln57Glu	610036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610036	HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT	OMIM	66	pfam00822	NULL
149461	47606757	Disease	p.Leu90Pro	610036.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610036	HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT	OMIM	104	pfam00822	183979973,NP_683763
149461	297515502	Disease	p.Leu90Pro	610036.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610036	HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT	OMIM	104	pfam00822	NULL
149461	183979975	Disease	p.Leu90Pro	610036.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610036	HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT	OMIM	104	pfam00822	NULL
91147	187281580	Disease	p.Gln376Pro	609884.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884	MECKEL SYNDROME, TYPE 3	OMIM	219	pfam09773	NULL
91147	214830753	Disease	p.Gln376Pro	609884.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884	MECKEL SYNDROME, TYPE 3	OMIM	339	pfam09773	NULL
91147	187281580	Disease	p.Tyr513Cys	609884.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884	JOUBERT SYNDROME 6||COACH SYNDROME	OMIM	416	pfam09773	NULL
91147	214830753	Disease	p.Tyr513Cys	609884.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884	JOUBERT SYNDROME 6||COACH SYNDROME	OMIM	502	pfam09773	NULL
91147	187281580	Disease	p.Ser320Cys	609884.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884	BARDET-BIEDL SYNDROME 14, MODIFIER OF	OMIM	163	pfam09773	NULL
91147	214830753	Disease	p.Ser320Cys	609884.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884	BARDET-BIEDL SYNDROME 14, MODIFIER OF	OMIM	247	pfam09773	NULL
91147	187281580	Disease	p.Ile833Thr	609884.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884	COACH SYNDROME||JOUBERT SYNDROME 6	OMIM	757	pfam09773	NULL
91147	214830753	Disease	p.Ile833Thr	609884.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884	COACH SYNDROME||JOUBERT SYNDROME 6	OMIM	878	pfam09773	NULL
91147	187281580	Disease	p.Phe590Ser	609884.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884	COACH SYNDROME	OMIM	498	pfam09773	NULL
91147	214830753	Disease	p.Phe590Ser	609884.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884	COACH SYNDROME	OMIM	591	pfam09773	NULL
91147	187281580	Disease	p.Gly821Ser	609884.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884	NEPHRONOPHTHISIS 11	OMIM	742	pfam09773	NULL
91147	214830753	Disease	p.Gly821Ser	609884.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884	NEPHRONOPHTHISIS 11	OMIM	843	pfam09773	NULL
91147	187281580	Disease	p.Cys615Arg	609884.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884	NEPHRONOPHTHISIS 11||JOUBERT SYNDROME 6	OMIM	526	pfam09773	NULL
91147	214830753	Disease	p.Cys615Arg	609884.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884	NEPHRONOPHTHISIS 11||JOUBERT SYNDROME 6	OMIM	616	pfam09773	NULL
91147	187281580	Disease	p.Trp290Leu	609884.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884	NEPHRONOPHTHISIS 11	OMIM	133	pfam09773	NULL
91147	214830753	Disease	p.Trp290Leu	609884.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884	NEPHRONOPHTHISIS 11	OMIM	214	pfam09773	NULL
91147	187281580	Disease	p.Gly821Arg	609884.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884	NEPHRONOPHTHISIS 11||JOUBERT SYNDROME 6	OMIM	742	pfam09773	NULL
91147	214830753	Disease	p.Gly821Arg	609884.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884	NEPHRONOPHTHISIS 11||JOUBERT SYNDROME 6	OMIM	843	pfam09773	NULL
91147	187281580	Disease	p.Met252Thr	609884.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884	JOUBERT SYNDROME 6	OMIM	95	pfam09773	NULL
91147	214830753	Disease	p.Met252Thr	609884.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609884	JOUBERT SYNDROME 6	OMIM	176	pfam09773	NULL
54903	260064077	Disease	p.Cys492Trp	609883.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609883	BARDET-BIEDL SYNDROME 13	OMIM	No Domain	N/A	NULL
54903	92087008	Disease	p.Cys492Trp	609883.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609883	BARDET-BIEDL SYNDROME 13	OMIM	375	pfam07162	89242137,NP_060247
164656	209572718	Disease	p.Gly442Arg	609862.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609862	IRON-REFRACTORY IRON DEFICIENCY ANEMIA	OMIM	No Domain	N/A	23957702,NP_705837
164656	209572718	Disease	p.Asp521Asn	609862.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609862	IRON-REFRACTORY IRON DEFICIENCY ANEMIA	OMIM	69	cd00112	23957702,NP_705837
164656	209572718	Disease	p.Asp521Asn	609862.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609862	IRON-REFRACTORY IRON DEFICIENCY ANEMIA	OMIM	60	smart00192	23957702,NP_705837
164656	209572718	Disease	p.Asp521Asn	609862.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609862	IRON-REFRACTORY IRON DEFICIENCY ANEMIA	OMIM	54	pfam00057	23957702,NP_705837
164656	209572718	Disease	p.Ala118Asp	609862.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609862	IRON-REFRACTORY IRON DEFICIENCY ANEMIA	OMIM	43	pfam01390	23957702,NP_705837
83893	296453014	Disease	p.Arg283Gln	609856.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609856	GLOBOZOOSPERMIA	OMIM	No Domain	N/A	190194384,NP_114161
6490	2507099	Disease	p.Gln1098Pro	609845.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609845	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL	OMIM	No Domain	N/A	5902084,NP_008859
6490	2507099	Disease	p.Leu340Pro	609845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609845	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL	OMIM	No Domain	N/A	5902084,NP_008859
6490	2507099	Disease	p.Gln117Arg	609845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609845	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL	OMIM	No Domain	N/A	5902084,NP_008859
6490	2507099	Disease	p.Leu620Pro	609845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609845	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL	OMIM	No Domain	N/A	5902084,NP_008859
6490	2507099	Disease	p.Cys1229Tyr	609845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609845	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL	OMIM	No Domain	N/A	5902084,NP_008859
6490	2507099	Disease	p.Phe1745Cys	609845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609845	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL	OMIM	No Domain	N/A	5902084,NP_008859
6490	2507099	Disease	p.Val577Gly	609845.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609845	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL	OMIM	No Domain	N/A	5902084,NP_008859
6490	2507099	Disease	p.Gly1073Asp	609845.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609845	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL	OMIM	No Domain	N/A	5902084,NP_008859
25974	85681045	Disease	p.Leu116Pro	609831.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609831	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE	OMIM	No Domain	N/A	153070822,NP_056321
25974	85681045	Disease	p.Arg161Gln	609831.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609831	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE	OMIM	No Domain	N/A	153070822,NP_056321
142680	74728483	Disease	p.Arg353Leu	609826.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609826	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	OMIM	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Arg353Leu	609826.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609826	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	OMIM	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Arg353Leu	609826.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609826	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	OMIM	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Ala413Glu	609826.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609826	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	OMIM	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Ala413Glu	609826.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609826	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	OMIM	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Ala413Glu	609826.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609826	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	OMIM	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Pro282Pro	609826.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609826	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	OMIM	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Pro282Pro	609826.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609826	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	OMIM	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Pro282Pro	609826.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609826	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	OMIM	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Gly196Arg	609826.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609826	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	OMIM	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Gly196Arg	609826.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609826	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	OMIM	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Gly196Arg	609826.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609826	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	OMIM	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Arg468Trp	609826.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609826	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	OMIM	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Arg468Trp	609826.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609826	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	OMIM	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Arg468Trp	609826.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609826	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	OMIM	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Gln252Gln	609826.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609826	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	OMIM	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Gln252Gln	609826.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609826	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	OMIM	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Gln252Gln	609826.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609826	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	OMIM	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
27235	260656052	Disease	p.Tyr297Cys	609825.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609825	COENZYME Q10 DEFICIENCY	OMIM	227	COG0382	NULL
27235	260656052	Disease	p.Tyr297Cys	609825.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609825	COENZYME Q10 DEFICIENCY	OMIM	421	pfam01040	NULL
27235	260656052	Disease	p.Tyr297Cys	609825.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609825	COENZYME Q10 DEFICIENCY	OMIM	233	COG0109	NULL
27235	260656052	Disease	p.Arg197His	609825.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609825	COENZYME Q10 DEFICIENCY	OMIM	107	COG0382	NULL
27235	260656052	Disease	p.Arg197His	609825.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609825	COENZYME Q10 DEFICIENCY	OMIM	139	pfam01040	NULL
27235	260656052	Disease	p.Arg197His	609825.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609825	COENZYME Q10 DEFICIENCY	OMIM	129	COG0109	NULL
27235	260656052	Disease	p.Asn228Ser	609825.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609825	COENZYME Q10 DEFICIENCY	OMIM	138	COG0382	NULL
27235	260656052	Disease	p.Asn228Ser	609825.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609825	COENZYME Q10 DEFICIENCY	OMIM	213	pfam01040	NULL
27235	260656052	Disease	p.Asn228Ser	609825.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609825	COENZYME Q10 DEFICIENCY	OMIM	161	COG0109	NULL
27235	260656052	Disease	p.Ser146Asn	609825.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609825	COENZYME Q10 DEFICIENCY	OMIM	35	COG0382	NULL
27235	260656052	Disease	p.Ser146Asn	609825.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609825	COENZYME Q10 DEFICIENCY	OMIM	14	pfam01040	NULL
27235	260656052	Disease	p.Ser146Asn	609825.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609825	COENZYME Q10 DEFICIENCY	OMIM	73	COG0109	NULL
3145	1170217	Disease	p.Arg116Trp	609806.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	108	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg116Trp	609806.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	117	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg116Trp	609806.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	109	pfam01379	20149500,NP_000181
3145	66933009	Disease	p.Arg116Trp	609806.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	125	cd00494	NULL
3145	66933009	Disease	p.Arg116Trp	609806.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	134	COG0181	NULL
3145	66933009	Disease	p.Arg116Trp	609806.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	126	pfam01379	NULL
3145	1170217	Disease	p.Arg167Gln	609806.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	160	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg167Gln	609806.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	168	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg167Gln	609806.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	161	pfam01379	20149500,NP_000181
3145	66933009	Disease	p.Arg167Gln	609806.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	178	cd00494	NULL
3145	66933009	Disease	p.Arg167Gln	609806.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	271	COG0181	NULL
3145	66933009	Disease	p.Arg167Gln	609806.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	179	pfam01379	NULL
3145	1170217	Disease	p.Arg173Gln	609806.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	166	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg173Gln	609806.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	174	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg173Gln	609806.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	167	pfam01379	20149500,NP_000181
3145	66933009	Disease	p.Arg173Gln	609806.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	184	cd00494	NULL
3145	66933009	Disease	p.Arg173Gln	609806.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	277	COG0181	NULL
3145	66933009	Disease	p.Arg173Gln	609806.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	185	pfam01379	NULL
3145	1170217	Disease	p.Arg149Gln	609806.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	141	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg149Gln	609806.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	150	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg149Gln	609806.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	142	pfam01379	20149500,NP_000181
3145	66933009	Disease	p.Arg149Gln	609806.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	159	cd00494	NULL
3145	66933009	Disease	p.Arg149Gln	609806.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	167	COG0181	NULL
3145	66933009	Disease	p.Arg149Gln	609806.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	160	pfam01379	NULL
3145	1170217	Disease	p.Leu245Arg	609806.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	2	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Leu245Arg	609806.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	244	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Leu245Arg	609806.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	335	COG0181	20149500,NP_000181
3145	66933009	Disease	p.Leu245Arg	609806.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	261	cd00494	NULL
3145	66933009	Disease	p.Leu245Arg	609806.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	352	COG0181	NULL
3145	66933009	Disease	p.Leu245Arg	609806.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	19	pfam03900	NULL
3145	1170217	Disease	p.Arg167Trp	609806.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	160	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg167Trp	609806.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	168	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg167Trp	609806.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	161	pfam01379	20149500,NP_000181
3145	66933009	Disease	p.Arg167Trp	609806.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	178	cd00494	NULL
3145	66933009	Disease	p.Arg167Trp	609806.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	271	COG0181	NULL
3145	66933009	Disease	p.Arg167Trp	609806.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	179	pfam01379	NULL
3145	1170217	Disease	p.Arg167Leu	609806.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	160	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg167Leu	609806.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	168	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg167Leu	609806.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	161	pfam01379	20149500,NP_000181
3145	66933009	Disease	p.Arg167Leu	609806.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	178	cd00494	NULL
3145	66933009	Disease	p.Arg167Leu	609806.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	271	COG0181	NULL
3145	66933009	Disease	p.Arg167Leu	609806.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	179	pfam01379	NULL
3145	1170217	Disease	p.Arg26His	609806.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	6	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg26His	609806.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	9	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg26His	609806.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	7	pfam01379	20149500,NP_000181
3145	66933009	Disease	p.Arg26His	609806.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	23	cd00494	NULL
3145	66933009	Disease	p.Arg26His	609806.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	26	COG0181	NULL
3145	66933009	Disease	p.Arg26His	609806.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	24	pfam01379	NULL
3145	1170217	Disease	p.Ala31Thr	609806.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	11	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Ala31Thr	609806.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	14	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Ala31Thr	609806.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	12	pfam01379	20149500,NP_000181
3145	66933009	Disease	p.Ala31Thr	609806.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	32	cd00494	NULL
3145	66933009	Disease	p.Ala31Thr	609806.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	41	COG0181	NULL
3145	66933009	Disease	p.Ala31Thr	609806.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	29	pfam01379	NULL
3145	1170217	Disease	p.Gln34Lys	609806.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	14	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Gln34Lys	609806.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	17	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Gln34Lys	609806.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	15	pfam01379	20149500,NP_000181
3145	66933009	Disease	p.Gln34Lys	609806.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	35	cd00494	NULL
3145	66933009	Disease	p.Gln34Lys	609806.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	44	COG0181	NULL
3145	66933009	Disease	p.Gln34Lys	609806.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	36	pfam01379	NULL
3145	1170217	Disease	p.Ala55Ser	609806.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	39	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Ala55Ser	609806.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	48	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Ala55Ser	609806.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	40	pfam01379	20149500,NP_000181
3145	66933009	Disease	p.Ala55Ser	609806.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	56	cd00494	NULL
3145	66933009	Disease	p.Ala55Ser	609806.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	68	COG0181	NULL
3145	66933009	Disease	p.Ala55Ser	609806.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	57	pfam01379	NULL
3145	1170217	Disease	p.Gly111Arg	609806.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	103	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Gly111Arg	609806.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	112	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Gly111Arg	609806.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	104	pfam01379	20149500,NP_000181
3145	66933009	Disease	p.Gly111Arg	609806.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	120	cd00494	NULL
3145	66933009	Disease	p.Gly111Arg	609806.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	129	COG0181	NULL
3145	66933009	Disease	p.Gly111Arg	609806.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	121	pfam01379	NULL
3145	1170217	Disease	p.Leu177Arg	609806.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	170	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Leu177Arg	609806.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	178	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Leu177Arg	609806.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	171	pfam01379	20149500,NP_000181
3145	66933009	Disease	p.Leu177Arg	609806.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	188	cd00494	NULL
3145	66933009	Disease	p.Leu177Arg	609806.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	281	COG0181	NULL
3145	66933009	Disease	p.Leu177Arg	609806.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	189	pfam01379	NULL
3145	1170217	Disease	p.Arg201Trp	609806.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	199	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg201Trp	609806.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	291	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg201Trp	609806.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	199	pfam01379	20149500,NP_000181
3145	66933009	Disease	p.Arg201Trp	609806.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	216	cd00494	NULL
3145	66933009	Disease	p.Arg201Trp	609806.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	308	COG0181	NULL
3145	66933009	Disease	p.Arg201Trp	609806.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	220	pfam01379	NULL
3145	1170217	Disease	p.Glu223Lys	609806.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	221	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Glu223Lys	609806.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	313	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Glu223Lys	609806.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	225	pfam01379	20149500,NP_000181
3145	66933009	Disease	p.Glu223Lys	609806.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	239	cd00494	NULL
3145	66933009	Disease	p.Glu223Lys	609806.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	330	COG0181	NULL
3145	1170217	Disease	p.Cys247Arg	609806.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	4	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Cys247Arg	609806.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	246	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Cys247Arg	609806.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	337	COG0181	20149500,NP_000181
3145	66933009	Disease	p.Cys247Arg	609806.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	263	cd00494	NULL
3145	66933009	Disease	p.Cys247Arg	609806.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	354	COG0181	NULL
3145	66933009	Disease	p.Cys247Arg	609806.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	21	pfam03900	NULL
3145	1170217	Disease	p.Glu250Lys	609806.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	7	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Glu250Lys	609806.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	249	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Glu250Lys	609806.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	340	COG0181	20149500,NP_000181
3145	66933009	Disease	p.Glu250Lys	609806.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	266	cd00494	NULL
3145	66933009	Disease	p.Glu250Lys	609806.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	357	COG0181	NULL
3145	66933009	Disease	p.Glu250Lys	609806.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	24	pfam03900	NULL
3145	1170217	Disease	p.Ala252Thr	609806.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	9	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Ala252Thr	609806.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	251	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Ala252Thr	609806.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	342	COG0181	20149500,NP_000181
3145	66933009	Disease	p.Ala252Thr	609806.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	268	cd00494	NULL
3145	66933009	Disease	p.Ala252Thr	609806.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	359	COG0181	NULL
3145	66933009	Disease	p.Ala252Thr	609806.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	26	pfam03900	NULL
3145	1170217	Disease	p.Ala252Val	609806.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	9	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Ala252Val	609806.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	251	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Ala252Val	609806.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	342	COG0181	20149500,NP_000181
3145	66933009	Disease	p.Ala252Val	609806.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	268	cd00494	NULL
3145	66933009	Disease	p.Ala252Val	609806.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	359	COG0181	NULL
3145	66933009	Disease	p.Ala252Val	609806.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	26	pfam03900	NULL
3145	1170217	Disease	p.His256Asn	609806.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	13	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.His256Asn	609806.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	255	cd00494	20149500,NP_000181
3145	1170217	Disease	p.His256Asn	609806.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	346	COG0181	20149500,NP_000181
3145	66933009	Disease	p.His256Asn	609806.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	272	cd00494	NULL
3145	66933009	Disease	p.His256Asn	609806.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	363	COG0181	NULL
3145	66933009	Disease	p.His256Asn	609806.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	34	pfam03900	NULL
3145	1170217	Disease	p.Gly216Asp	609806.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	214	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Gly216Asp	609806.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	306	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Gly216Asp	609806.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	218	pfam01379	20149500,NP_000181
3145	66933009	Disease	p.Gly216Asp	609806.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	232	cd00494	NULL
3145	66933009	Disease	p.Gly216Asp	609806.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	323	COG0181	NULL
3145	66933009	Disease	p.Gly216Asp	609806.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	235	pfam01379	NULL
3145	1170217	Disease	p.Met1Val	609806.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT	OMIM	No Domain	N/A	20149500,NP_000181
3145	66933009	Disease	p.Met1Val	609806.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT	OMIM	No Domain	N/A	NULL
3145	1170217	Disease	p.Leu81Pro	609806.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	68	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Leu81Pro	609806.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	77	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Leu81Pro	609806.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	69	pfam01379	20149500,NP_000181
3145	66933009	Disease	p.Leu81Pro	609806.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	90	cd00494	NULL
3145	66933009	Disease	p.Leu81Pro	609806.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	98	COG0181	NULL
3145	66933009	Disease	p.Leu81Pro	609806.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609806	PORPHYRIA, ACUTE INTERMITTENT	OMIM	91	pfam01379	NULL
283652	74749781	Disease	p.Ala111Thr	609802.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609802	SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN	OMIM	64	COG0530	45504369,NP_995322
283652	74749781	Disease	p.Ala111Thr	609802.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609802	SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN	OMIM	64	pfam01699	45504369,NP_995322
284086	34098463	Disease	p.His425Tyr	609799.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609799	NEPHRONOPHTHISIS 9	OMIM	33	pfam00415	30039692,NP_835464
284086	34098463	Disease	p.His425Tyr	609799.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609799	NEPHRONOPHTHISIS 9	OMIM	289	COG5184	30039692,NP_835464
51	297206874	Disease	p.Met278Val	609751.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	467	COG1960	NULL
51	297206874	Disease	p.Met278Val	609751.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	381	cd01150	NULL
51	297206874	Disease	p.Met278Val	609751.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	292	cd01151	NULL
51	297206874	Disease	p.Met278Val	609751.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	357	cd00567	NULL
51	30089972	Disease	p.Met278Val	609751.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	424	COG1960	NULL
51	30089972	Disease	p.Met278Val	609751.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	257	cd01151	NULL
51	30089972	Disease	p.Met278Val	609751.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	338	cd01150	NULL
51	30089972	Disease	p.Met278Val	609751.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	319	cd00567	NULL
51	126302511	Disease	p.Met278Val	609751.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	424	COG1960	30089974,NP_009223
51	126302511	Disease	p.Met278Val	609751.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	257	cd01151	30089974,NP_009223
51	126302511	Disease	p.Met278Val	609751.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	338	cd01150	30089974,NP_009223
51	126302511	Disease	p.Met278Val	609751.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	319	cd00567	30089974,NP_009223
51	126302511	Disease	p.Met278Val	609751.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	278_G	cd01161	30089974,NP_009223
51	297206874	Disease	p.Gly178Cys	609751.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	339	COG1960	NULL
51	297206874	Disease	p.Gly178Cys	609751.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	269	cd01150	NULL
51	297206874	Disease	p.Gly178Cys	609751.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	206	cd01151	NULL
51	297206874	Disease	p.Gly178Cys	609751.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	249	cd00567	NULL
51	30089972	Disease	p.Gly178Cys	609751.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	286	COG1960	NULL
51	30089972	Disease	p.Gly178Cys	609751.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	171	cd01151	NULL
51	30089972	Disease	p.Gly178Cys	609751.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	225	cd01150	NULL
51	30089972	Disease	p.Gly178Cys	609751.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	197	cd00567	NULL
51	30089972	Disease	p.Gly178Cys	609751.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	58	pfam02770	NULL
51	126302511	Disease	p.Gly178Cys	609751.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	286	COG1960	30089974,NP_009223
51	126302511	Disease	p.Gly178Cys	609751.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	171	cd01151	30089974,NP_009223
51	126302511	Disease	p.Gly178Cys	609751.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	225	cd01150	30089974,NP_009223
51	126302511	Disease	p.Gly178Cys	609751.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	197	cd00567	30089974,NP_009223
51	126302511	Disease	p.Gly178Cys	609751.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	189	cd01161	30089974,NP_009223
51	126302511	Disease	p.Gly178Cys	609751.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	58	pfam02770	30089974,NP_009223
51	297206874	Disease	p.Gln309Arg	609751.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	509	COG1960	NULL
51	297206874	Disease	p.Gln309Arg	609751.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	412	cd01150	NULL
51	297206874	Disease	p.Gln309Arg	609751.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	318_G	cd01151	NULL
51	297206874	Disease	p.Gln309Arg	609751.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	388	cd00567	NULL
51	30089972	Disease	p.Gln309Arg	609751.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	455	COG1960	NULL
51	30089972	Disease	p.Gln309Arg	609751.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	288	cd01151	NULL
51	30089972	Disease	p.Gln309Arg	609751.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	373	cd01150	NULL
51	30089972	Disease	p.Gln309Arg	609751.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	350	cd00567	NULL
51	126302511	Disease	p.Gln309Arg	609751.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	455	COG1960	30089974,NP_009223
51	126302511	Disease	p.Gln309Arg	609751.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	288	cd01151	30089974,NP_009223
51	126302511	Disease	p.Gln309Arg	609751.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	373	cd01150	30089974,NP_009223
51	126302511	Disease	p.Gln309Arg	609751.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	350	cd00567	30089974,NP_009223
51	126302511	Disease	p.Gln309Arg	609751.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609751	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	OMIM	306	cd01161	30089974,NP_009223
5313	8247933	Disease	p.Arg132Cys	609712.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	69	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg132Cys	609712.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	69	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Arg132Cys	609712.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	86	COG0469	10835121,NP_000289
5313	32967597	Disease	p.Arg132Cys	609712.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	112	COG0469	NULL
5313	32967597	Disease	p.Arg132Cys	609712.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	100	cd00288	NULL
5313	32967597	Disease	p.Arg132Cys	609712.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	100	pfam00224	NULL
5313	8247933	Disease	p.Thr353Met	609712.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	302	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Thr353Met	609712.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	307	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Thr353Met	609712.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	327	COG0469	10835121,NP_000289
5313	32967597	Disease	p.Thr353Met	609712.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	358	COG0469	NULL
5313	32967597	Disease	p.Thr353Met	609712.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	333	cd00288	NULL
5313	32967597	Disease	p.Thr353Met	609712.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	338	pfam00224	NULL
5313	8247933	Disease	p.Thr384Met	609712.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	333	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Thr384Met	609712.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	338	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Thr384Met	609712.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	358	COG0469	10835121,NP_000289
5313	32967597	Disease	p.Thr384Met	609712.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	396	COG0469	NULL
5313	32967597	Disease	p.Thr384Met	609712.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	364	cd00288	NULL
5313	32967597	Disease	p.Thr384Met	609712.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	369	pfam00224	NULL
5313	8247933	Disease	p.Gln421Lys	609712.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	370	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Gln421Lys	609712.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	375	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Gln421Lys	609712.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	402	COG0469	10835121,NP_000289
5313	32967597	Disease	p.Gln421Lys	609712.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	436	COG0469	NULL
5313	32967597	Disease	p.Gln421Lys	609712.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	401	cd00288	NULL
5313	8247933	Disease	p.Arg479His	609712.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY, AMISH TYPE	OMIM	429	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg479His	609712.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY, AMISH TYPE	OMIM	34	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Arg479His	609712.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY, AMISH TYPE	OMIM	479	COG0469	10835121,NP_000289
5313	32967597	Disease	p.Arg479His	609712.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY, AMISH TYPE	OMIM	154	pfam02887	NULL
5313	32967597	Disease	p.Arg479His	609712.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY, AMISH TYPE	OMIM	511	COG0469	NULL
5313	32967597	Disease	p.Arg479His	609712.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY, AMISH TYPE	OMIM	473	cd00288	NULL
5313	8247933	Disease	p.Arg510Gln	609712.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	473	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg510Gln	609712.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	154	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Arg510Gln	609712.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	511	COG0469	10835121,NP_000289
5313	32967597	Disease	p.Arg510Gln	609712.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	254	pfam02887	NULL
5313	32967597	Disease	p.Arg510Gln	609712.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	542	COG0469	NULL
5313	32967597	Disease	p.Arg510Gln	609712.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	508	cd00288	NULL
5313	8247933	Disease	p.Gly37Gln	609712.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES	OMIM	No Domain	N/A	10835121,NP_000289
5313	32967597	Disease	p.Gly37Gln	609712.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES	OMIM	No Domain	N/A	NULL
5313	8247933	Disease	p.Arg486Trp	609712.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	436	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg486Trp	609712.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	41	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Arg486Trp	609712.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	486	COG0469	10835121,NP_000289
5313	32967597	Disease	p.Arg486Trp	609712.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	161	pfam02887	NULL
5313	32967597	Disease	p.Arg486Trp	609712.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	518	COG0469	NULL
5313	32967597	Disease	p.Arg486Trp	609712.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	480	cd00288	NULL
5313	8247933	Disease	p.Ser130Tyr	609712.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	67	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ser130Tyr	609712.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	67	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Ser130Tyr	609712.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	84	COG0469	10835121,NP_000289
5313	32967597	Disease	p.Ser130Tyr	609712.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	110	COG0469	NULL
5313	32967597	Disease	p.Ser130Tyr	609712.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	98	cd00288	NULL
5313	32967597	Disease	p.Ser130Tyr	609712.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609712	PYRUVATE KINASE DEFICIENCY	OMIM	98	pfam00224	NULL
3936	308153685	Disease	p.Ala176Thr	609708.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	113	smart00033	167614506,NP_002289
3936	308153685	Disease	p.Ala176Thr	609708.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	59	cd00014	167614506,NP_002289
3936	308153685	Disease	p.Ala176Thr	609708.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	152	pfam00307	167614506,NP_002289
3936	308153685	Disease	p.Ala176Thr	609708.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	200	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Gly188Glu	609708.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	169	smart00033	167614506,NP_002289
3936	308153685	Disease	p.Gly188Glu	609708.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	86	cd00014	167614506,NP_002289
3936	308153685	Disease	p.Gly188Glu	609708.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	178	pfam00307	167614506,NP_002289
3936	308153685	Disease	p.Gly188Glu	609708.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	216	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Ser244Thr	609708.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	273	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Pro207Leu	609708.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	196	smart00033	167614506,NP_002289
3936	308153685	Disease	p.Pro207Leu	609708.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	106	cd00014	167614506,NP_002289
3936	308153685	Disease	p.Pro207Leu	609708.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	203	pfam00307	167614506,NP_002289
3936	308153685	Disease	p.Pro207Leu	609708.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	236	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Ile194Thr	609708.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	175	smart00033	167614506,NP_002289
3936	308153685	Disease	p.Ile194Thr	609708.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	92	cd00014	167614506,NP_002289
3936	308153685	Disease	p.Ile194Thr	609708.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	186	pfam00307	167614506,NP_002289
3936	308153685	Disease	p.Ile194Thr	609708.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	222	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Arg243His	609708.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	272	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Gly142Glu	609708.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	55	smart00033	167614506,NP_002289
3936	308153685	Disease	p.Gly142Glu	609708.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	22	cd00014	167614506,NP_002289
3936	308153685	Disease	p.Gly142Glu	609708.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	94	pfam00307	167614506,NP_002289
3936	308153685	Disease	p.Gly142Glu	609708.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	166	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Asp156Gly	609708.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	75	smart00033	167614506,NP_002289
3936	308153685	Disease	p.Asp156Gly	609708.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	39	cd00014	167614506,NP_002289
3936	308153685	Disease	p.Asp156Gly	609708.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	116	pfam00307	167614506,NP_002289
3936	308153685	Disease	p.Asp156Gly	609708.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	180	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Asp204Glu	609708.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	187	smart00033	167614506,NP_002289
3936	308153685	Disease	p.Asp204Glu	609708.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	103	cd00014	167614506,NP_002289
3936	308153685	Disease	p.Asp204Glu	609708.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	200	pfam00307	167614506,NP_002289
3936	308153685	Disease	p.Asp204Glu	609708.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	232	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Asp250Asn	609708.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	279	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Trp86Arg	609708.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	93	COG5069	167614506,NP_002289
79742	193804856	Disease	p.Trp86Arg	609708.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Trp86Arg	609708.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
3936	308153685	Disease	p.Ala334Thr	609708.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	175	smart00033	167614506,NP_002289
3936	308153685	Disease	p.Ala334Thr	609708.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	357	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Ala334Thr	609708.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	186	pfam00307	167614506,NP_002289
3936	308153685	Disease	p.Ala334Thr	609708.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	92	cd00014	167614506,NP_002289
3936	308153685	Disease	p.Ser172Cys	609708.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	92	smart00033	167614506,NP_002289
3936	308153685	Disease	p.Ser172Cys	609708.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	55	cd00014	167614506,NP_002289
3936	308153685	Disease	p.Ser172Cys	609708.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	135	pfam00307	167614506,NP_002289
3936	308153685	Disease	p.Ser172Cys	609708.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	196	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Arg75Ser	609708.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	23	pfam00036	167614506,NP_002289
3936	308153685	Disease	p.Arg75Ser	609708.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	23	smart00054	167614506,NP_002289
3936	308153685	Disease	p.Arg75Ser	609708.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	82	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Arg75Ser	609708.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	77	cd00051	167614506,NP_002289
3936	308153685	Disease	p.Gly195Glu	609708.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	176	smart00033	167614506,NP_002289
3936	308153685	Disease	p.Gly195Glu	609708.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	93	cd00014	167614506,NP_002289
3936	308153685	Disease	p.Gly195Glu	609708.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	187	pfam00307	167614506,NP_002289
3936	308153685	Disease	p.Gly195Glu	609708.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	223	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Asp180Glu	609708.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	128	smart00033	167614506,NP_002289
3936	308153685	Disease	p.Asp180Glu	609708.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	63	cd00014	167614506,NP_002289
3936	308153685	Disease	p.Asp180Glu	609708.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	156	pfam00307	167614506,NP_002289
3936	308153685	Disease	p.Asp180Glu	609708.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	204	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Arg243Cys	609708.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	272	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Asn291Ser	609708.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	COMBINED HYPERLIPIDEMIA, FAMILIAL	OMIM	73	smart00033	167614506,NP_002289
3936	308153685	Disease	p.Asn291Ser	609708.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	COMBINED HYPERLIPIDEMIA, FAMILIAL	OMIM	322	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Asn291Ser	609708.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	COMBINED HYPERLIPIDEMIA, FAMILIAL	OMIM	115	pfam00307	167614506,NP_002289
3936	308153685	Disease	p.Asn291Ser	609708.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	COMBINED HYPERLIPIDEMIA, FAMILIAL	OMIM	38	cd00014	167614506,NP_002289
3936	308153685	Disease	p.Leu365Val	609708.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	229	smart00033	167614506,NP_002289
3936	308153685	Disease	p.Leu365Val	609708.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	388	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Leu365Val	609708.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	244	pfam00307	167614506,NP_002289
3936	308153685	Disease	p.Leu365Val	609708.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	130	cd00014	167614506,NP_002289
3936	308153685	Disease	p.Asp9Asn	609708.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	COMBINED HYPERLIPIDEMIA, FAMILIAL	OMIM	20	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Cys418Tyr	609708.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	73	smart00033	167614506,NP_002289
3936	308153685	Disease	p.Cys418Tyr	609708.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	444	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Cys418Tyr	609708.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	38	cd00014	167614506,NP_002289
3936	308153685	Disease	p.Cys418Tyr	609708.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	115	pfam00307	167614506,NP_002289
3936	308153685	Disease	p.Ile225Thr	609708.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	228	smart00033	167614506,NP_002289
3936	308153685	Disease	p.Ile225Thr	609708.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	129	cd00014	167614506,NP_002289
3936	308153685	Disease	p.Ile225Thr	609708.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	243	pfam00307	167614506,NP_002289
3936	308153685	Disease	p.Ile225Thr	609708.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	254	COG5069	167614506,NP_002289
3936	308153685	Disease	p.Cys239Trp	609708.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609708	LIPOPROTEIN LIPASE DEFICIENCY	OMIM	268	COG5069	167614506,NP_002289
4669	66346698	Disease	p.Arg674His	609701.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609701	MUCOPOLYSACCHARIDOSIS TYPE IIIB	OMIM	848	pfam05089	NULL
4669	66346698	Disease	p.Arg643His	609701.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609701	MUCOPOLYSACCHARIDOSIS TYPE IIIB	OMIM	804	pfam05089	NULL
4669	66346698	Disease	p.Arg643Cys	609701.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609701	MUCOPOLYSACCHARIDOSIS TYPE IIIB	OMIM	804	pfam05089	NULL
4669	66346698	Disease	p.Pro521Leu	609701.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609701	MUCOPOLYSACCHARIDOSIS TYPE IIIB	OMIM	574	pfam05089	NULL
4669	66346698	Disease	p.Arg565Trp	609701.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609701	MUCOPOLYSACCHARIDOSIS TYPE IIIB	OMIM	667	pfam05089	NULL
4669	66346698	Disease	p.Arg565Pro	609701.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609701	MUCOPOLYSACCHARIDOSIS TYPE IIIB	OMIM	667	pfam05089	NULL
4669	66346698	Disease	p.Phe48Leu	609701.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609701	MUCOPOLYSACCHARIDOSIS TYPE IIIB	OMIM	No Domain	N/A	NULL
4669	66346698	Disease	p.Phe314Leu	609701.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609701	MUCOPOLYSACCHARIDOSIS TYPE IIIB	OMIM	273	pfam05089	NULL
4669	66346698	Disease	p.Arg482Trp	609701.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609701	MUCOPOLYSACCHARIDOSIS TYPE IIIB	OMIM	516	pfam05089	NULL
4669	66346698	Disease	p.Arg234Cys	609701.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609701	MUCOPOLYSACCHARIDOSIS TYPE IIIB	OMIM	182	pfam05089	NULL
3242	285002264	Disease	p.Tyr160Cys	609695.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609695	TYROSINEMIA, TYPE III	OMIM	221	COG3185	NULL
3242	285002264	Disease	p.Tyr160Cys	609695.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609695	TYROSINEMIA, TYPE III	OMIM	26	pfam00903	NULL
3242	285002264	Disease	p.Tyr160Cys	609695.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609695	TYROSINEMIA, TYPE III	OMIM	19	cd06587	NULL
3242	285002264	Disease	p.Tyr160Cys	609695.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609695	TYROSINEMIA, TYPE III	OMIM	22	cd07250	NULL
3242	417144	Disease	p.Tyr160Cys	609695.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609695	TYROSINEMIA, TYPE III	OMIM	183	COG3185	4504477,NP_002141
3242	417144	Disease	p.Tyr160Cys	609695.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609695	TYROSINEMIA, TYPE III	OMIM	188	cd08342	4504477,NP_002141
3242	285002264	Disease	p.Ile335Met	609695.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609695	TYROSINEMIA, TYPE III	OMIM	402	COG3185	NULL
3242	417144	Disease	p.Ile335Met	609695.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609695	TYROSINEMIA, TYPE III	OMIM	362	COG3185	4504477,NP_002141
3242	417144	Disease	p.Ile335Met	609695.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609695	TYROSINEMIA, TYPE III	OMIM	221	cd06587	4504477,NP_002141
3242	417144	Disease	p.Ile335Met	609695.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609695	TYROSINEMIA, TYPE III	OMIM	252	cd07250	4504477,NP_002141
3242	285002264	Disease	p.Ala33Thr	609695.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609695	HAWKINSINURIA	OMIM	68	cd08342	NULL
3242	285002264	Disease	p.Ala33Thr	609695.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609695	HAWKINSINURIA	OMIM	88	COG3185	NULL
3242	417144	Disease	p.Ala33Thr	609695.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609695	HAWKINSINURIA	OMIM	49	COG3185	4504477,NP_002141
3242	417144	Disease	p.Ala33Thr	609695.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609695	HAWKINSINURIA	OMIM	24	pfam00903	4504477,NP_002141
3242	417144	Disease	p.Ala33Thr	609695.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609695	HAWKINSINURIA	OMIM	17	cd06587	4504477,NP_002141
3242	417144	Disease	p.Ala33Thr	609695.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609695	HAWKINSINURIA	OMIM	18	cd08342	4504477,NP_002141
199713	24212128	Disease	p.Arg693Trp	609661.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609661	HYDATIDIFORM MOLE, RECURRENT	OMIM	86	cd00116	75709196,NP_996611
199713	46049100	Disease	p.Arg693Trp	609661.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609661	HYDATIDIFORM MOLE, RECURRENT	OMIM	51	cd00116	NULL
199713	187937176	Disease	p.Arg693Trp	609661.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609661	HYDATIDIFORM MOLE, RECURRENT	OMIM	11	cd00116	NULL
199713	24212128	Disease	p.Arg693Pro	609661.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609661	HYDATIDIFORM MOLE, RECURRENT	OMIM	86	cd00116	75709196,NP_996611
199713	46049100	Disease	p.Arg693Pro	609661.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609661	HYDATIDIFORM MOLE, RECURRENT	OMIM	51	cd00116	NULL
199713	187937176	Disease	p.Arg693Pro	609661.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609661	HYDATIDIFORM MOLE, RECURRENT	OMIM	11	cd00116	NULL
199713	24212128	Disease	p.Asn913Ser	609661.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609661	HYDATIDIFORM MOLE, RECURRENT	OMIM	363	cd00116	75709196,NP_996611
199713	46049100	Disease	p.Asn913Ser	609661.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609661	HYDATIDIFORM MOLE, RECURRENT	OMIM	330	cd00116	NULL
199713	187937176	Disease	p.Asn913Ser	609661.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609661	HYDATIDIFORM MOLE, RECURRENT	OMIM	296	cd00116	NULL
199713	24212128	Disease	p.Arg693Gln	609661.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609661	HYDATIDIFORM MOLE, RECURRENT	OMIM	86	cd00116	75709196,NP_996611
199713	46049100	Disease	p.Arg693Gln	609661.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609661	HYDATIDIFORM MOLE, RECURRENT	OMIM	51	cd00116	NULL
199713	187937176	Disease	p.Arg693Gln	609661.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609661	HYDATIDIFORM MOLE, RECURRENT	OMIM	11	cd00116	NULL
199713	24212128	Disease	p.Leu398Arg	609661.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609661	HYDATIDIFORM MOLE, RECURRENT	OMIM	No Domain	N/A	75709196,NP_996611
199713	46049100	Disease	p.Leu398Arg	609661.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609661	HYDATIDIFORM MOLE, RECURRENT	OMIM	No Domain	N/A	NULL
199713	187937176	Disease	p.Leu398Arg	609661.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609661	HYDATIDIFORM MOLE, RECURRENT	OMIM	No Domain	N/A	NULL
199713	24212128	Disease	p.Pro651Ser	609661.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609661	HYDATIDIFORM MOLE, RECURRENT	OMIM	28	cd00116	75709196,NP_996611
199713	46049100	Disease	p.Pro651Ser	609661.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609661	HYDATIDIFORM MOLE, RECURRENT	OMIM	No Domain	N/A	NULL
199713	187937176	Disease	p.Pro651Ser	609661.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609661	HYDATIDIFORM MOLE, RECURRENT	OMIM	No Domain	N/A	NULL
81607	74761016	Disease	p.Arg284Gln	609607.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609607	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1	OMIM	27	pfam00047	222136611,NP_112178
81607	74761016	Disease	p.Arg284Gln	609607.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609607	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1	OMIM	33	cd00096	222136611,NP_112178
81607	74761016	Disease	p.Arg284Gln	609607.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609607	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1	OMIM	19	cd05725	222136611,NP_112178
81607	74761016	Disease	p.Arg284Gln	609607.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609607	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1	OMIM	19	cd05876	222136611,NP_112178
81607	74761016	Disease	p.Arg284Gln	609607.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609607	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1	OMIM	21_G	cd05868	222136611,NP_112178
81607	74761016	Disease	p.Arg284Gln	609607.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609607	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1	OMIM	30	cd05729	222136611,NP_112178
81607	74761016	Disease	p.Arg284Gln	609607.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609607	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1	OMIM	30	cd05856	222136611,NP_112178
81607	74761016	Disease	p.Arg284Gln	609607.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609607	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1	OMIM	54	smart00409	222136611,NP_112178
81607	74761016	Disease	p.Arg284Gln	609607.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609607	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1	OMIM	54	smart00410	222136611,NP_112178
81607	74761016	Disease	p.Arg284Gln	609607.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609607	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1	OMIM	25	smart00408	222136611,NP_112178
81607	74761016	Disease	p.Thr185Met	609607.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609607	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1	OMIM	24	cd05883	222136611,NP_112178
81607	74761016	Disease	p.Thr185Met	609607.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609607	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1	OMIM	24	cd05761	222136611,NP_112178
81607	74761016	Disease	p.Thr185Met	609607.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609607	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1	OMIM	39	cd07703	222136611,NP_112178
81607	74761016	Disease	p.Thr185Met	609607.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609607	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1	OMIM	77	cd05771	222136611,NP_112178
81607	74761016	Disease	p.Thr185Met	609607.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609607	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1	OMIM	42	cd05719	222136611,NP_112178
81607	74761016	Disease	p.Thr185Met	609607.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609607	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1	OMIM	39	cd07704	222136611,NP_112178
81607	74761016	Disease	p.Thr185Met	609607.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609607	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1	OMIM	45	pfam08205	222136611,NP_112178
51218	83288163	Disease	p.Gln98Gln	609588.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609588	ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE	OMIM	64	COG0278	42516576,NP_057501
51218	83288163	Disease	p.Gln98Gln	609588.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609588	ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE	OMIM	54	cd03419	42516576,NP_057501
51218	83288163	Disease	p.Gln98Gln	609588.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609588	ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE	OMIM	62	cd02066	42516576,NP_057501
51218	83288163	Disease	p.Gln98Gln	609588.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609588	ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE	OMIM	45	cd03418	42516576,NP_057501
51218	83288163	Disease	p.Gln98Gln	609588.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609588	ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE	OMIM	59	cd03028	42516576,NP_057501
51218	83288163	Disease	p.Gln98Gln	609588.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609588	ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE	OMIM	75	pfam00462	42516576,NP_057501
79944	13376331	Disease	p.Pro302Leu	609584.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609584	L-2-HYDROXYGLUTARIC ACIDURIA	OMIM	812	pfam01266	NULL
79944	13376331	Disease	p.Pro302Leu	609584.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609584	L-2-HYDROXYGLUTARIC ACIDURIA	OMIM	314	COG0579	NULL
79944	13376331	Disease	p.Pro302Leu	609584.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609584	L-2-HYDROXYGLUTARIC ACIDURIA	OMIM	358	COG0665	NULL
79944	13376331	Disease	p.Gly55Asp	609584.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609584	L-2-HYDROXYGLUTARIC ACIDURIA	OMIM	6	pfam01266	NULL
79944	13376331	Disease	p.Gly55Asp	609584.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609584	L-2-HYDROXYGLUTARIC ACIDURIA	OMIM	10	COG0579	NULL
79944	13376331	Disease	p.Gly55Asp	609584.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609584	L-2-HYDROXYGLUTARIC ACIDURIA	OMIM	11	COG0665	NULL
79944	13376331	Disease	p.His98Arg	609584.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609584	L-2-HYDROXYGLUTARIC ACIDURIA	OMIM	102	pfam01266	NULL
79944	13376331	Disease	p.His98Arg	609584.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609584	L-2-HYDROXYGLUTARIC ACIDURIA	OMIM	55	COG0579	NULL
79944	13376331	Disease	p.His98Arg	609584.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609584	L-2-HYDROXYGLUTARIC ACIDURIA	OMIM	68	COG0665	NULL
9820	270265835	Disease	p.His1464Pro	609577.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609577	3@M SYNDROME	OMIM	859	pfam00888	NULL
9820	160370003	Disease	p.His1464Pro	609577.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609577	3@M SYNDROME	OMIM	1005	pfam00888	41872646,NP_055595
33	223590148	Disease	p.Gln303Lys	609576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609576	LCAD DEFICIENCY	OMIM	252	cd01157	4501857,NP_001599
33	223590148	Disease	p.Gln303Lys	609576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609576	LCAD DEFICIENCY	OMIM	257	cd01162	4501857,NP_001599
33	223590148	Disease	p.Gln303Lys	609576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609576	LCAD DEFICIENCY	OMIM	296	cd01153	4501857,NP_001599
33	223590148	Disease	p.Gln303Lys	609576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609576	LCAD DEFICIENCY	OMIM	272	cd01151	4501857,NP_001599
33	223590148	Disease	p.Gln303Lys	609576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609576	LCAD DEFICIENCY	OMIM	255	cd01156	4501857,NP_001599
33	223590148	Disease	p.Gln303Lys	609576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609576	LCAD DEFICIENCY	OMIM	321	cd01154	4501857,NP_001599
33	223590148	Disease	p.Gln303Lys	609576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609576	LCAD DEFICIENCY	OMIM	27	pfam00441	4501857,NP_001599
33	223590148	Disease	p.Gln303Lys	609576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609576	LCAD DEFICIENCY	OMIM	439	COG1960	4501857,NP_001599
33	223590148	Disease	p.Gln303Lys	609576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609576	LCAD DEFICIENCY	OMIM	290	cd01161	4501857,NP_001599
33	223590148	Disease	p.Gln303Lys	609576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609576	LCAD DEFICIENCY	OMIM	11	pfam08028	4501857,NP_001599
33	223590148	Disease	p.Gln303Lys	609576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609576	LCAD DEFICIENCY	OMIM	252	cd01160	4501857,NP_001599
33	223590148	Disease	p.Gln303Lys	609576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609576	LCAD DEFICIENCY	OMIM	314_G	cd01155	4501857,NP_001599
33	223590148	Disease	p.Gln303Lys	609576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609576	LCAD DEFICIENCY	OMIM	253	cd01158	4501857,NP_001599
33	223590148	Disease	p.Gln303Lys	609576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609576	LCAD DEFICIENCY	OMIM	334	cd00567	4501857,NP_001599
33	223590148	Disease	p.Gln303Lys	609576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609576	LCAD DEFICIENCY	OMIM	265	cd01152	4501857,NP_001599
37	1703068	Disease	p.Arg613Trp	609575.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	690	cd01150	4557235,NP_000009
37	76496475	Disease	p.Arg613Trp	609575.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	726	cd01150	NULL
37	1703068	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	48	pfam08028	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	482	COG1960	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	282	cd01157	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	287	cd01162	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	305_G	cd01163	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	395	cd01150	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	354	cd01154	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	282	cd01160	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	60	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	303	cd01151	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	285	cd01156	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	331	cd01153	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	320	cd01161	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	342	cd01155	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	371	cd00567	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	284	cd01158	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	299	cd01152	4557235,NP_000009
37	76496475	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	321	cd01152	NULL
37	76496475	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	306	cd01158	NULL
37	76496475	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	342	cd01161	NULL
37	76496475	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	304	cd01160	NULL
37	76496475	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	523	COG1960	NULL
37	76496475	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	307	cd01156	NULL
37	76496475	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	353	cd01153	NULL
37	76496475	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	86	pfam00441	NULL
37	76496475	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	364	cd01155	NULL
37	76496475	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	393	cd00567	NULL
37	76496475	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	421	cd01150	NULL
37	76496475	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	67	pfam08028	NULL
37	76496475	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	375	cd01154	NULL
37	76496475	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	304	cd01157	NULL
37	76496475	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	309	cd01162	NULL
37	76496475	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	326	cd01163	NULL
37	76496475	Disease	p.Lys382Gln	609575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	325	cd01151	NULL
37	1703068	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	64	pfam08028	4557235,NP_000009
37	1703068	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	520	COG1960	4557235,NP_000009
37	1703068	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	300	cd01157	4557235,NP_000009
37	1703068	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	306	cd01162	4557235,NP_000009
37	1703068	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	323	cd01163	4557235,NP_000009
37	1703068	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	418	cd01150	4557235,NP_000009
37	1703068	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	372	cd01154	4557235,NP_000009
37	1703068	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	301	cd01160	4557235,NP_000009
37	1703068	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	80	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	322	cd01151	4557235,NP_000009
37	1703068	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	304	cd01156	4557235,NP_000009
37	1703068	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	350	cd01153	4557235,NP_000009
37	1703068	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	339	cd01161	4557235,NP_000009
37	1703068	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	363_G	cd01155	4557235,NP_000009
37	1703068	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	390	cd00567	4557235,NP_000009
37	1703068	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	303	cd01158	4557235,NP_000009
37	1703068	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	318	cd01152	4557235,NP_000009
37	76496475	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	342	cd01152	NULL
37	76496475	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	325	cd01158	NULL
37	76496475	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	379	cd01161	NULL
37	76496475	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	322	cd01160	NULL
37	76496475	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	563	COG1960	NULL
37	76496475	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	330	cd01156	NULL
37	76496475	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	398	cd01153	NULL
37	76496475	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	113	pfam00441	NULL
37	76496475	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	384	cd01155	NULL
37	76496475	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	424	cd00567	NULL
37	76496475	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	458	cd01150	NULL
37	76496475	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	105	pfam08028	NULL
37	76496475	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	406	cd01154	NULL
37	76496475	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	322	cd01157	NULL
37	76496475	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	328	cd01162	NULL
37	76496475	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	361	cd01163	NULL
37	76496475	Disease	p.Gly401Asp	609575.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	343	cd01151	NULL
37	1703068	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	81	pfam08028	4557235,NP_000009
37	1703068	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	547	COG1960	4557235,NP_000009
37	1703068	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	310	cd01157	4557235,NP_000009
37	1703068	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	315	cd01162	4557235,NP_000009
37	1703068	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	348	cd01163	4557235,NP_000009
37	1703068	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	427	cd01150	4557235,NP_000009
37	1703068	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	381	cd01154	4557235,NP_000009
37	1703068	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	310	cd01160	4557235,NP_000009
37	1703068	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	92	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	331	cd01151	4557235,NP_000009
37	1703068	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	318	cd01156	4557235,NP_000009
37	1703068	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	359	cd01153	4557235,NP_000009
37	1703068	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	366	cd01161	4557235,NP_000009
37	1703068	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	371	cd01155	4557235,NP_000009
37	1703068	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	399	cd00567	4557235,NP_000009
37	1703068	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	312	cd01158	4557235,NP_000009
37	1703068	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	329	cd01152	4557235,NP_000009
37	76496475	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	351	cd01152	NULL
37	76496475	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	334	cd01158	NULL
37	76496475	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	388	cd01161	NULL
37	76496475	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	331	cd01160	NULL
37	76496475	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	572	COG1960	NULL
37	76496475	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	339	cd01156	NULL
37	76496475	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	407	cd01153	NULL
37	76496475	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	122	pfam00441	NULL
37	76496475	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	393	cd01155	NULL
37	76496475	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	433	cd00567	NULL
37	76496475	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	467	cd01150	NULL
37	76496475	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	114	pfam08028	NULL
37	76496475	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	415	cd01154	NULL
37	76496475	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	331	cd01157	NULL
37	76496475	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	337	cd01162	NULL
37	76496475	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	370	cd01163	NULL
37	76496475	Disease	p.Arg410His	609575.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	352	cd01151	NULL
37	1703068	Disease	p.Pro65Leu	609575.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	No Domain	N/A	4557235,NP_000009
37	76496475	Disease	p.Pro65Leu	609575.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	16	cd01161	NULL
37	76496475	Disease	p.Pro65Leu	609575.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	8	cd01150	NULL
37	76496475	Disease	p.Pro65Leu	609575.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	10	cd01154	NULL
37	76496475	Disease	p.Pro65Leu	609575.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	18	cd01151	NULL
37	1703068	Disease	p.Phe458Leu	609575.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	140	pfam08028	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	609575.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	663	COG1960	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	609575.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	357	cd01157	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	609575.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	363	cd01162	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	609575.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	404	cd01163	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	609575.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	493	cd01150	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	609575.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	441	cd01154	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	609575.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	357	cd01160	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	609575.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	158	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	609575.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	378	cd01151	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	609575.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	365	cd01156	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	609575.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	433	cd01153	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	609575.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	414	cd01161	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	609575.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	483	cd00567	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	609575.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	360	cd01158	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	609575.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	396	cd01152	4557235,NP_000009
37	76496475	Disease	p.Phe458Leu	609575.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	436	cd01161	NULL
37	76496475	Disease	p.Phe458Leu	609575.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	687	COG1960	NULL
37	76496475	Disease	p.Phe458Leu	609575.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	518	cd01150	NULL
37	1703068	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	94	pfam08028	4557235,NP_000009
37	1703068	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	556	COG1960	4557235,NP_000009
37	1703068	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	315	cd01157	4557235,NP_000009
37	1703068	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	321	cd01162	4557235,NP_000009
37	1703068	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	354	cd01163	4557235,NP_000009
37	1703068	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	451	cd01150	4557235,NP_000009
37	1703068	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	399	cd01154	4557235,NP_000009
37	1703068	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	315	cd01160	4557235,NP_000009
37	1703068	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	105	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	336	cd01151	4557235,NP_000009
37	1703068	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	323	cd01156	4557235,NP_000009
37	1703068	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	365	cd01153	4557235,NP_000009
37	1703068	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	372	cd01161	4557235,NP_000009
37	1703068	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	377	cd01155	4557235,NP_000009
37	1703068	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	417	cd00567	4557235,NP_000009
37	1703068	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	318	cd01158	4557235,NP_000009
37	1703068	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	335	cd01152	4557235,NP_000009
37	76496475	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	357	cd01152	NULL
37	76496475	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	340	cd01158	NULL
37	76496475	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	394	cd01161	NULL
37	76496475	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	337	cd01160	NULL
37	76496475	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	578	COG1960	NULL
37	76496475	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	345	cd01156	NULL
37	76496475	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	413	cd01153	NULL
37	76496475	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	128	pfam00441	NULL
37	76496475	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	399	cd01155	NULL
37	76496475	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	439	cd00567	NULL
37	76496475	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	473	cd01150	NULL
37	76496475	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	120	pfam08028	NULL
37	76496475	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	421	cd01154	NULL
37	76496475	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	337	cd01157	NULL
37	76496475	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	343	cd01162	NULL
37	76496475	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	376	cd01163	NULL
37	76496475	Disease	p.Ala416Thr	609575.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	358	cd01151	NULL
37	1703068	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	132	pfam08028	4557235,NP_000009
37	1703068	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	640	COG1960	4557235,NP_000009
37	1703068	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	349	cd01157	4557235,NP_000009
37	1703068	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	355	cd01162	4557235,NP_000009
37	1703068	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	388	cd01163	4557235,NP_000009
37	1703068	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	485	cd01150	4557235,NP_000009
37	1703068	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	433	cd01154	4557235,NP_000009
37	1703068	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	349	cd01160	4557235,NP_000009
37	1703068	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	150	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	370	cd01151	4557235,NP_000009
37	1703068	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	357	cd01156	4557235,NP_000009
37	1703068	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	425	cd01153	4557235,NP_000009
37	1703068	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	406	cd01161	4557235,NP_000009
37	1703068	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	417	cd01155	4557235,NP_000009
37	1703068	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	470	cd00567	4557235,NP_000009
37	1703068	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	352	cd01158	4557235,NP_000009
37	1703068	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	388	cd01152	4557235,NP_000009
37	76496475	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	410	cd01152	NULL
37	76496475	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	374	cd01158	NULL
37	76496475	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	428	cd01161	NULL
37	76496475	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	371	cd01160	NULL
37	76496475	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	677	COG1960	NULL
37	76496475	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	379	cd01156	NULL
37	76496475	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	452	cd01153	NULL
37	76496475	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	174	pfam00441	NULL
37	76496475	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	500	cd00567	NULL
37	76496475	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	507	cd01150	NULL
37	76496475	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	460	cd01154	NULL
37	76496475	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	371	cd01157	NULL
37	76496475	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	377	cd01162	NULL
37	76496475	Disease	p.Arg450His	609575.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609575	VLCAD DEFICIENCY	OMIM	392	cd01151	NULL
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	379	cd07144	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	396	cd07086	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	382	cd07131	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	345	cd07148	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	356	cd07145	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	347	cd07107	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	320	cd07136	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	352	cd07099	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	373	cd07098	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	347	cd07146	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	356	cd07110	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	381	cd07102	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	364	cd07087	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	394	cd07078	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	502	cd07125	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	365	cd07135	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	378	cd07139	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	335	cd07133	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	371	cd07119	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	321	cd07132	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	472	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	328	cd07104	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	369	cd07142	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	348	cd07120	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	373	cd07103	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	325	cd07137	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	374	cd07138	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	344	cd07100	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	391	cd07083	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	384	cd07085	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	490	COG1012	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	354	cd07109	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	364	cd07084	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	368	cd07106	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	325	cd07134	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	405	cd06534	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07094	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07092	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07115	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	358	cd07090	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07118	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	344	cd07150	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	356	cd07147	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	355	cd07151	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	374	cd07111	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	375	cd07089	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	369	cd07093	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	368	cd07097	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	426	cd07124	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	370	cd07116	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	368	cd07113	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	372	cd07143	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07149	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	391	cd07082	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	363	cd07117	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	366	cd07088	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	373	cd07140	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	332	cd07095	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	382	cd07130	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	388	cd07091	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	370	cd07559	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	372	cd07141	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	357	cd07114	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	335	cd07152	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07108	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	343	cd07105	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	343	cd07101	4557303,NP_000373
224	1706379	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	354	cd07112	4557303,NP_000373
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	379	cd07144	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	396	cd07086	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	382	cd07131	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	345	cd07148	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	356	cd07145	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	347	cd07107	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	320	cd07136	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	352	cd07099	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	373	cd07098	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	347	cd07146	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	356	cd07110	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	381	cd07102	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	364	cd07087	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	394	cd07078	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	502	cd07125	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	365	cd07135	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	378	cd07139	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	335	cd07133	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	371	cd07119	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	321	cd07132	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	472	pfam00171	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	328	cd07104	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	369	cd07142	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	348	cd07120	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	373	cd07103	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	325	cd07137	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	374	cd07138	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	344	cd07100	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	391	cd07083	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	384	cd07085	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	490	COG1012	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	354	cd07109	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	364	cd07084	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	368	cd07106	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	325	cd07134	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	405	cd06534	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07094	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07092	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07115	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	358	cd07090	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07118	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	344	cd07150	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	356	cd07147	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	355	cd07151	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	374	cd07111	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	375	cd07089	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	369	cd07093	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	368	cd07097	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	426	cd07124	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	370	cd07116	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	368	cd07113	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	372	cd07143	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07149	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	391	cd07082	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	363	cd07117	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	366	cd07088	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	373	cd07140	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	332	cd07095	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	382	cd07130	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	388	cd07091	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	370	cd07559	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	372	cd07141	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	357	cd07114	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	335	cd07152	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07108	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	343	cd07105	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	343	cd07101	NULL
224	73466520	Disease	p.Pro315Ala	609523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	354	cd07112	NULL
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	263	cd07144	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	263	cd07086	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	256	cd07131	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	239	cd07148	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	247	cd07145	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	232	cd07107	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	216	cd07136	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	240	cd07099	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	249	cd07098	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	239	cd07146	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	244	cd07110	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	257	cd07102	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	236	cd07087	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	254	cd07078	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	385	cd07125	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	242	cd07135	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	262	cd07139	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	218	cd07133	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	256	cd07119	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	214	cd07132	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	330	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	223	cd07104	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	260	cd07142	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	234	cd07120	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	246	cd07103	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	214	cd07137	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	257	cd07138	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	226	cd07100	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	279	cd07083	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	259	cd07085	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	339	COG1012	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	237	cd07109	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	236	cd07084	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	244	cd07106	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	216	cd07134	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	273	cd06534	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	243	cd07094	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	237	cd07092	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	237	cd07115	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	241	cd07090	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	237	cd07118	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	239	cd07150	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	239	cd07147	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	250	cd07151	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	266	cd07111	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	258	cd07089	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	248	cd07093	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	255	cd07097	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	311	cd07124	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	251	cd07116	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	260	cd07113	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	264	cd07143	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	238	cd07149	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	280	cd07082	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	251	cd07117	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	250	cd07088	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	264	cd07140	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	218	cd07095	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	257	cd07130	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	270	cd07091	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	251	cd07559	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	262	cd07141	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	236	cd07114	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	230	cd07152	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	233	cd07108	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	221	cd07105	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	232	cd07101	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	241	cd07112	4557303,NP_000373
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	263	cd07144	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	263	cd07086	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	256	cd07131	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	239	cd07148	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	247	cd07145	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	232	cd07107	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	216	cd07136	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	240	cd07099	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	249	cd07098	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	239	cd07146	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	244	cd07110	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	257	cd07102	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	236	cd07087	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	254	cd07078	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	385	cd07125	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	242	cd07135	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	262	cd07139	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	218	cd07133	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	256	cd07119	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	214	cd07132	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	330	pfam00171	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	223	cd07104	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	260	cd07142	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	234	cd07120	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	246	cd07103	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	214	cd07137	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	257	cd07138	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	226	cd07100	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	279	cd07083	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	259	cd07085	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	339	COG1012	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	237	cd07109	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	236	cd07084	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	244	cd07106	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	216	cd07134	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	273	cd06534	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	243	cd07094	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	237	cd07092	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	237	cd07115	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	241	cd07090	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	237	cd07118	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	239	cd07150	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	239	cd07147	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	250	cd07151	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	266	cd07111	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	258	cd07089	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	248	cd07093	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	255	cd07097	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	311	cd07124	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	251	cd07116	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	260	cd07113	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	264	cd07143	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	238	cd07149	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	280	cd07082	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	251	cd07117	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	250	cd07088	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	264	cd07140	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	218	cd07095	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	257	cd07130	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	270	cd07091	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	251	cd07559	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	262	cd07141	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	236	cd07114	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	230	cd07152	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	233	cd07108	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	221	cd07105	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	232	cd07101	NULL
224	73466520	Disease	p.Cys214Tyr	609523.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	241	cd07112	NULL
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	379	cd07144	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	396	cd07086	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	382	cd07131	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	345	cd07148	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	356	cd07145	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	347	cd07107	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	320	cd07136	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	352	cd07099	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	373	cd07098	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	347	cd07146	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	356	cd07110	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	381	cd07102	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	364	cd07087	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	394	cd07078	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	502	cd07125	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	365	cd07135	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	378	cd07139	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	335	cd07133	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	371	cd07119	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	321	cd07132	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	472	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	328	cd07104	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	369	cd07142	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	348	cd07120	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	373	cd07103	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	325	cd07137	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	374	cd07138	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	344	cd07100	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	391	cd07083	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	384	cd07085	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	490	COG1012	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	354	cd07109	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	364	cd07084	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	368	cd07106	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	325	cd07134	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	405	cd06534	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07094	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07092	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07115	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	358	cd07090	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07118	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	344	cd07150	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	356	cd07147	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	355	cd07151	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	374	cd07111	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	375	cd07089	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	369	cd07093	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	368	cd07097	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	426	cd07124	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	370	cd07116	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	368	cd07113	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	372	cd07143	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07149	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	391	cd07082	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	363	cd07117	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	366	cd07088	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	373	cd07140	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	332	cd07095	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	382	cd07130	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	388	cd07091	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	370	cd07559	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	372	cd07141	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	357	cd07114	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	335	cd07152	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07108	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	343	cd07105	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	343	cd07101	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	354	cd07112	4557303,NP_000373
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	379	cd07144	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	396	cd07086	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	382	cd07131	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	345	cd07148	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	356	cd07145	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	347	cd07107	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	320	cd07136	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	352	cd07099	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	373	cd07098	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	347	cd07146	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	356	cd07110	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	381	cd07102	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	364	cd07087	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	394	cd07078	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	502	cd07125	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	365	cd07135	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	378	cd07139	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	335	cd07133	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	371	cd07119	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	321	cd07132	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	472	pfam00171	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	328	cd07104	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	369	cd07142	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	348	cd07120	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	373	cd07103	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	325	cd07137	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	374	cd07138	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	344	cd07100	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	391	cd07083	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	384	cd07085	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	490	COG1012	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	354	cd07109	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	364	cd07084	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	368	cd07106	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	325	cd07134	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	405	cd06534	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07094	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07092	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07115	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	358	cd07090	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07118	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	344	cd07150	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	356	cd07147	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	355	cd07151	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	374	cd07111	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	375	cd07089	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	369	cd07093	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	368	cd07097	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	426	cd07124	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	370	cd07116	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	368	cd07113	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	372	cd07143	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07149	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	391	cd07082	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	363	cd07117	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	366	cd07088	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	373	cd07140	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	332	cd07095	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	382	cd07130	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	388	cd07091	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	370	cd07559	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	372	cd07141	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	357	cd07114	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	335	cd07152	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	349	cd07108	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	343	cd07105	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	343	cd07101	NULL
224	73466520	Disease	p.Pro315Ser	609523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	354	cd07112	NULL
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	315	cd07144	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	318	cd07086	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	308	cd07131	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	291	cd07148	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	300	cd07145	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	286	cd07107	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	268	cd07136	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	292	cd07099	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	305	cd07098	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	294	cd07146	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	295_G	cd07110	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	311	cd07102	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	293	cd07087	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	318	cd07078	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	439	cd07125	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	297	cd07135	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	317	cd07139	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	275	cd07133	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	308	cd07119	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	268	cd07132	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	390	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	275	cd07104	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	312	cd07142	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	285_G	cd07120	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	299	cd07103	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	271	cd07137	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	314	cd07138	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	280	cd07100	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	331	cd07083	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	313	cd07085	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	405	COG1012	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	289	cd07109	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	298	cd07084	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	298	cd07106	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	268	cd07134	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	337	cd06534	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	296	cd07094	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	289	cd07092	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	289	cd07115	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	293	cd07090	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	289	cd07118	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	291	cd07150	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	295	cd07147	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	302	cd07151	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	318	cd07111	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	313	cd07089	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	300	cd07093	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	307	cd07097	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	363	cd07124	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	308	cd07116	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	312	cd07113	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	316	cd07143	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	291	cd07149	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	332	cd07082	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	303	cd07117	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	302	cd07088	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	316	cd07140	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	272	cd07095	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	308	cd07130	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	323	cd07091	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	308	cd07559	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	320	cd07141	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	288	cd07114	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	282	cd07152	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	287	cd07108	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	273	cd07105	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	283_G	cd07101	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	294	cd07112	4557303,NP_000373
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	315	cd07144	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	318	cd07086	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	308	cd07131	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	291	cd07148	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	300	cd07145	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	286	cd07107	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	268	cd07136	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	292	cd07099	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	305	cd07098	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	294	cd07146	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	295_G	cd07110	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	311	cd07102	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	293	cd07087	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	318	cd07078	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	439	cd07125	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	297	cd07135	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	317	cd07139	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	275	cd07133	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	308	cd07119	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	268	cd07132	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	390	pfam00171	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	275	cd07104	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	312	cd07142	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	285_G	cd07120	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	299	cd07103	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	271	cd07137	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	314	cd07138	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	280	cd07100	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	331	cd07083	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	313	cd07085	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	405	COG1012	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	289	cd07109	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	298	cd07084	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	298	cd07106	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	268	cd07134	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	337	cd06534	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	296	cd07094	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	289	cd07092	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	289	cd07115	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	293	cd07090	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	289	cd07118	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	291	cd07150	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	295	cd07147	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	302	cd07151	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	318	cd07111	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	313	cd07089	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	300	cd07093	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	307	cd07097	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	363	cd07124	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	308	cd07116	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	312	cd07113	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	316	cd07143	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	291	cd07149	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	332	cd07082	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	303	cd07117	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	302	cd07088	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	316	cd07140	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	272	cd07095	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	308	cd07130	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	323	cd07091	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	308	cd07559	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	320	cd07141	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	288	cd07114	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	282	cd07152	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	287	cd07108	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	273	cd07105	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	283_G	cd07101	NULL
224	73466520	Disease	p.Lys266Asn	609523.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	294	cd07112	NULL
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	450	cd07144	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	504	cd07086	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	456	cd07131	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	416	cd07148	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	429	cd07145	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	418	cd07107	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	393	cd07136	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	423	cd07099	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	447	cd07098	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	419	cd07146	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	427	cd07110	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	457	cd07102	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	446	cd07087	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	483	cd07078	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	581	cd07125	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	446	cd07135	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	454	cd07139	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	406	cd07133	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	444	cd07119	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	392	cd07132	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	558	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	399	cd07104	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	440	cd07142	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	419	cd07120	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	454	cd07103	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	396	cd07137	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	451	cd07138	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	418	cd07100	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	467	cd07083	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	441	cd07085	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	577	COG1012	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	425	cd07109	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	453	cd07084	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	440	cd07106	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	396	cd07134	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	509	cd06534	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	420	cd07094	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	420	cd07092	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	420	cd07115	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	429	cd07090	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	420	cd07118	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	415	cd07150	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	427	cd07147	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	426	cd07151	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	445	cd07111	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	449	cd07089	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	441	cd07093	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	439	cd07097	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	506	cd07124	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	441	cd07116	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	439	cd07113	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	444	cd07143	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	420	cd07149	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	468	cd07082	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	430	cd07117	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	459	cd07088	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	446	cd07140	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	405	cd07095	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	461	cd07091	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	441	cd07559	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	443	cd07141	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	434	cd07114	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	406	cd07152	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	420	cd07108	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	414	cd07105	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	414	cd07101	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	425	cd07112	4557303,NP_000373
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	450	cd07144	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	504	cd07086	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	456	cd07131	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	416	cd07148	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	429	cd07145	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	418	cd07107	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	393	cd07136	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	423	cd07099	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	447	cd07098	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	419	cd07146	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	427	cd07110	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	457	cd07102	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	446	cd07087	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	483	cd07078	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	581	cd07125	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	446	cd07135	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	454	cd07139	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	406	cd07133	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	444	cd07119	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	392	cd07132	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	558	pfam00171	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	399	cd07104	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	440	cd07142	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	419	cd07120	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	454	cd07103	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	396	cd07137	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	451	cd07138	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	418	cd07100	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	467	cd07083	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	441	cd07085	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	577	COG1012	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	425	cd07109	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	453	cd07084	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	440	cd07106	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	396	cd07134	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	509	cd06534	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	420	cd07094	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	420	cd07092	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	420	cd07115	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	429	cd07090	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	420	cd07118	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	415	cd07150	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	427	cd07147	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	426	cd07151	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	445	cd07111	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	449	cd07089	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	441	cd07093	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	439	cd07097	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	506	cd07124	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	441	cd07116	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	439	cd07113	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	444	cd07143	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	420	cd07149	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	468	cd07082	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	430	cd07117	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	459	cd07088	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	446	cd07140	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	405	cd07095	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	461	cd07091	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	441	cd07559	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	443	cd07141	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	434	cd07114	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	406	cd07152	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	420	cd07108	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	414	cd07105	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	414	cd07101	NULL
224	73466520	Disease	p.Asn386Ser	609523.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609523	SJOGREN-LARSSON SYNDROME	OMIM	425	cd07112	NULL
55145	40068500	Disease	p.Phe81Leu	609520.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609520	DYSTONIA 6, TORSION	OMIM	No Domain	N/A	NULL
55145	29839656	Disease	p.Phe81Leu	609520.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609520	DYSTONIA 6, TORSION	OMIM	119	smart00692	8922446,NP_060575
55145	29839656	Disease	p.Phe81Leu	609520.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609520	DYSTONIA 6, TORSION	OMIM	171	pfam05485	8922446,NP_060575
55145	40068500	Disease	p.Lys89Arg	609520.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609520	DYSTONIA 6, TORSION	OMIM	No Domain	N/A	NULL
55145	29839656	Disease	p.Lys89Arg	609520.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609520	DYSTONIA 6, TORSION	OMIM	No Domain	N/A	8922446,NP_060575
55145	40068500	Disease	p.Gly9Cys	609520.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609520	DYSTONIA 6, TORSION	OMIM	No Domain	N/A	NULL
55145	29839656	Disease	p.Gly9Cys	609520.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609520	DYSTONIA 6, TORSION	OMIM	12	pfam05485	8922446,NP_060575
25978	73917746	Disease	p.Asp148Tyr	609512.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609512	FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED	OMIM	155	pfam03357	40254866,NP_054762
25978	73917746	Disease	p.Gln206His	609512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609512	AMYOTROPHIC LATERAL SCLEROSIS, CHMP2B-RELATED	OMIM	No Domain	N/A	40254866,NP_054762
1594	3182968	Disease	p.Arg107His	609506.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	OMIM	89	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Arg107His	609506.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	OMIM	76	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Gly125Glu	609506.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	OMIM	123	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Gly125Glu	609506.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	OMIM	94	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Arg335Pro	609506.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	OMIM	353	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Arg335Pro	609506.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	OMIM	351	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Pro382Ser	609506.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	OMIM	406	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Pro382Ser	609506.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	OMIM	406	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Thr321Arg	609506.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	OMIM	339	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Thr321Arg	609506.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	OMIM	336	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Thr409Ile	609506.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	OMIM	440	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Thr409Ile	609506.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	OMIM	441	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Arg389His	609506.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	OMIM	416	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Arg389His	609506.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	OMIM	415	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Arg389Gly	609506.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	OMIM	416	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Arg389Gly	609506.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	OMIM	415	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Leu343Phe	609506.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	OMIM	368	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Leu343Phe	609506.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	OMIM	359	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Glu189Gly	609506.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	OMIM	194	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Glu189Gly	609506.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609506	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A	OMIM	161	pfam00067	4503213,NP_000776
4126	51338734	Disease	p.Ser505Pro	609489.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609489	BETA-MANNOSIDOSIS	OMIM	264	pfam02836	84798622,NP_005899
4126	51338734	Disease	p.Ser505Pro	609489.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609489	BETA-MANNOSIDOSIS	OMIM	577	COG3250	84798622,NP_005899
4125	291045220	Disease	p.His71Leu	609458.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609458	ALPHA-MANNOSIDOSIS, TYPE II	OMIM	8	pfam01074	NULL
4125	118574274	Disease	p.His71Leu	609458.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609458	ALPHA-MANNOSIDOSIS, TYPE II	OMIM	8	pfam01074	51873064,NP_000519
4125	291045220	Disease	p.Arg750Trp	609458.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609458	ALPHA-MANNOSIDOSIS, TYPE II	OMIM	388	pfam07748	NULL
4125	118574274	Disease	p.Arg750Trp	609458.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609458	ALPHA-MANNOSIDOSIS, TYPE II	OMIM	387	pfam07748	51873064,NP_000519
4125	291045220	Disease	p.Pro356Arg	609458.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609458	ALPHA-MANNOSIDOSIS, TYPE I	OMIM	352	pfam01074	NULL
4125	118574274	Disease	p.Pro356Arg	609458.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609458	ALPHA-MANNOSIDOSIS, TYPE I	OMIM	350	pfam01074	51873064,NP_000519
3034	1170423	Disease	p.Arg206Thr	609457.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609457	HISTIDINEMIA	OMIM	162	cd00332	4504333,NP_002099
3034	1170423	Disease	p.Arg206Thr	609457.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609457	HISTIDINEMIA	OMIM	233	pfam00221	4504333,NP_002099
3034	1170423	Disease	p.Arg206Thr	609457.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609457	HISTIDINEMIA	OMIM	108	COG2986	4504333,NP_002099
3034	1170423	Disease	p.Arg208Leu	609457.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609457	HISTIDINEMIA	OMIM	164	cd00332	4504333,NP_002099
3034	1170423	Disease	p.Arg208Leu	609457.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609457	HISTIDINEMIA	OMIM	2	cd01594	4504333,NP_002099
3034	1170423	Disease	p.Arg208Leu	609457.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609457	HISTIDINEMIA	OMIM	235	pfam00221	4504333,NP_002099
3034	1170423	Disease	p.Arg208Leu	609457.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609457	HISTIDINEMIA	OMIM	110	COG2986	4504333,NP_002099
3034	1170423	Disease	p.Pro259Leu	609457.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609457	HISTIDINEMIA	OMIM	221	cd00332	4504333,NP_002099
3034	1170423	Disease	p.Pro259Leu	609457.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609457	HISTIDINEMIA	OMIM	67	cd01594	4504333,NP_002099
3034	1170423	Disease	p.Pro259Leu	609457.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609457	HISTIDINEMIA	OMIM	292	pfam00221	4504333,NP_002099
3034	1170423	Disease	p.Pro259Leu	609457.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609457	HISTIDINEMIA	OMIM	161	COG2986	4504333,NP_002099
3034	1170423	Disease	p.Arg322Pro	609457.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609457	HISTIDINEMIA	OMIM	333	cd00332	4504333,NP_002099
3034	1170423	Disease	p.Arg322Pro	609457.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609457	HISTIDINEMIA	OMIM	177	cd01594	4504333,NP_002099
3034	1170423	Disease	p.Arg322Pro	609457.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609457	HISTIDINEMIA	OMIM	415	pfam00221	4504333,NP_002099
3034	1170423	Disease	p.Arg322Pro	609457.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609457	HISTIDINEMIA	OMIM	224	COG2986	4504333,NP_002099
222662	74751349	Disease	p.Tyr127Cys	609427.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609427	DEAFNESS, AUTOSOMAL RECESSIVE 67	OMIM	139	pfam10242	32698930,NP_872354
222662	74751349	Disease	p.Thr165Met	609427.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609427	DEAFNESS, AUTOSOMAL RECESSIVE 67	OMIM	177	pfam10242	32698930,NP_872354
200576	22749359	Disease	p.Lys1103Arg	609414.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609414	FLECK CORNEAL DYSTROPHY	OMIM	No Domain	N/A	NULL
200576	300669693	Disease	p.Lys1103Arg	609414.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609414	FLECK CORNEAL DYSTROPHY	OMIM	No Domain	N/A	121583483,NP_055855
200576	295789162	Disease	p.Lys1103Arg	609414.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609414	FLECK CORNEAL DYSTROPHY	OMIM	No Domain	N/A	NULL
2074	416959	Disease	p.Pro1095Arg	609413.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609413	COCKAYNE SYNDROME, TYPE B	OMIM	No Domain	N/A	4557565,NP_000115
2074	416959	Disease	p.Leu987Pro	609413.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609413	CEREBROOCULOFACIOSKELETAL SYNDROME	OMIM	1513	COG0553	4557565,NP_000115
1161	3121917	Disease	p.Ala160Val	609412.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609412	COCKAYNE SYNDROME, TYPE A	OMIM	298	cd00200	4557467,NP_000073
1161	3121917	Disease	p.Ala205Pro	609412.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609412	COCKAYNE SYNDROME, TYPE A	OMIM	430	cd00200	4557467,NP_000073
1161	3121917	Disease	p.Ala205Pro	609412.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609412	COCKAYNE SYNDROME, TYPE A	OMIM	100	smart00320	4557467,NP_000073
1161	3121917	Disease	p.Ala205Pro	609412.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609412	COCKAYNE SYNDROME, TYPE A	OMIM	54	pfam00400	4557467,NP_000073
219736	82592525	Disease	p.Tyr153His	609397.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609397	PREECLAMPSIA/ECLAMPSIA 4	OMIM	43	pfam10264	63025200,NP_689922|194328691,NP_001123633
219736	194328687	Disease	p.Tyr153His	609397.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609397	PREECLAMPSIA/ECLAMPSIA 4	OMIM	43	pfam10264	NULL
219736	194328689	Disease	p.Tyr153His	609397.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609397	PREECLAMPSIA/ECLAMPSIA 4	OMIM	43	pfam10264	NULL
219736	82592525	Disease	p.Tyr153His	609397.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609397	PREECLAMPSIA/ECLAMPSIA 4	OMIM	43	pfam10264	63025200,NP_689922|194328691,NP_001123633
219736	194328693	Disease	p.Tyr153His	609397.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609397	PREECLAMPSIA/ECLAMPSIA 4	OMIM	No Domain	N/A	NULL
219736	82592525	Disease	p.Glu608Asp	609397.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609397	PREECLAMPSIA/ECLAMPSIA 4	OMIM	No Domain	N/A	63025200,NP_689922|194328691,NP_001123633
219736	194328687	Disease	p.Glu608Asp	609397.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609397	PREECLAMPSIA/ECLAMPSIA 4	OMIM	No Domain	N/A	NULL
219736	194328689	Disease	p.Glu608Asp	609397.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609397	PREECLAMPSIA/ECLAMPSIA 4	OMIM	No Domain	N/A	NULL
219736	82592525	Disease	p.Glu608Asp	609397.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609397	PREECLAMPSIA/ECLAMPSIA 4	OMIM	No Domain	N/A	63025200,NP_689922|194328691,NP_001123633
219736	194328693	Disease	p.Glu608Asp	609397.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609397	PREECLAMPSIA/ECLAMPSIA 4	OMIM	No Domain	N/A	NULL
9896	2497367	Disease	p.Ile41Thr	609390.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609390	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J	OMIM	29	COG5329	7662034,NP_055660
9896	2497367	Disease	p.Asp53Tyr	609390.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609390	AMYOTROPHIC LATERAL SCLEROSIS 11	OMIM	42	COG5329	7662034,NP_055660
348938	288684103	Disease	p.Ala114Asn	609383.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609383	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE, ICHTHYIN-RELATED	OMIM	No Domain	N/A	NULL
348938	221222524	Disease	p.Ala114Asn	609383.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609383	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE, ICHTHYIN-RELATED	OMIM	No Domain	N/A	149944536,NP_001092757
348938	288684103	Disease	p.Ala176Asp	609383.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609383	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE, ICHTHYIN-RELATED	OMIM	82	pfam05653	NULL
348938	221222524	Disease	p.Ala176Asp	609383.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609383	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE, ICHTHYIN-RELATED	OMIM	63	pfam05653	149944536,NP_001092757
157570	67460434	Disease	p.Trp539Gly	609353.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609353	ROBERTS SYNDROME	OMIM	No Domain	N/A	62899035,NP_001017420
4504	127404	Disease	p.Gln5Arg	609342.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609342	INTRINSIC FACTOR DEFICIENCY, CONGENITAL, SUSCEPTIBILITY TO	OMIM	9	pfam00131	5174762,NP_005945
4504	127404	Disease	p.Ser46Leu	609342.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609342	INTRINSIC FACTOR DEFICIENCY	OMIM	57	pfam00131	5174762,NP_005945
1621	158517849	Disease	p.Asp100Glu	609312.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609312	DOPAMINE BETA-HYDROXYLASE DEFICIENCY	OMIM	66	smart00664	116534900,NP_000778
1621	158517849	Disease	p.Asp100Glu	609312.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609312	DOPAMINE BETA-HYDROXYLASE DEFICIENCY	OMIM	63	pfam03351	116534900,NP_000778
1621	158517849	Disease	p.Val87Met	609312.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609312	DOPAMINE BETA-HYDROXYLASE DEFICIENCY	OMIM	44	smart00664	116534900,NP_000778
1621	158517849	Disease	p.Val87Met	609312.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609312	DOPAMINE BETA-HYDROXYLASE DEFICIENCY	OMIM	41	pfam03351	116534900,NP_000778
4436	1171032	Disease	p.Gly322Asp	609309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609309	MSH2 POLYMORPHISM	OMIM	399	COG0249	4557761,NP_000242
4436	1171032	Disease	p.Gly322Asp	609309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609309	MSH2 POLYMORPHISM	OMIM	30	pfam05192	4557761,NP_000242
79751	34222632	Disease	p.Pro206Leu	609302.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609302	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3	OMIM	135	pfam00153	300796991,NP_001177990|13375983,NP_078974|300796970,NP_001177989
79751	34222632	Disease	p.Pro206Leu	609302.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609302	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3	OMIM	135	pfam00153	300796991,NP_001177990|13375983,NP_078974|300796970,NP_001177989
79751	34222632	Disease	p.Pro206Leu	609302.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609302	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3	OMIM	135	pfam00153	300796991,NP_001177990|13375983,NP_078974|300796970,NP_001177989
79751	34222632	Disease	p.Gly236Trp	609302.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609302	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3	OMIM	16	pfam00153	300796991,NP_001177990|13375983,NP_078974|300796970,NP_001177989
79751	34222632	Disease	p.Gly236Trp	609302.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609302	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3	OMIM	16	pfam00153	300796991,NP_001177990|13375983,NP_078974|300796970,NP_001177989
79751	34222632	Disease	p.Gly236Trp	609302.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609302	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3	OMIM	16	pfam00153	300796991,NP_001177990|13375983,NP_078974|300796970,NP_001177989
1586	4503195	Disease	p.Ser106Pro	609300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	122	COG2124	NULL
1586	4503195	Disease	p.Ser106Pro	609300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	87	pfam00067	NULL
1586	4503195	Disease	p.Pro342Thr	609300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL	OMIM	382	COG2124	NULL
1586	4503195	Disease	p.Pro342Thr	609300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL	OMIM	383	pfam00067	NULL
1586	4503195	Disease	p.Arg96Trp	609300.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	102	COG2124	NULL
1586	4503195	Disease	p.Arg96Trp	609300.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	77	pfam00067	NULL
79742	193804856	Disease	p.Arg96Trp	609300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Arg96Trp	609300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
1586	4503195	Disease	p.Arg347His	609300.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17,20-@LYASE DEFICIENCY, ISOLATED	OMIM	388	COG2124	NULL
1586	4503195	Disease	p.Arg347His	609300.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17,20-@LYASE DEFICIENCY, ISOLATED	OMIM	388	pfam00067	NULL
1586	4503195	Disease	p.Arg358Gln	609300.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17,20-@LYASE DEFICIENCY, ISOLATED	OMIM	399	COG2124	NULL
1586	4503195	Disease	p.Arg358Gln	609300.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17,20-@LYASE DEFICIENCY, ISOLATED	OMIM	399	pfam00067	NULL
79742	193804856	Disease	p.Arg358Gln	609300.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Arg358Gln	609300.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
79742	193804856	Disease	p.Arg358Gln	609300.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Arg358Gln	609300.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
1586	4503195	Disease	p.Phe93Cys	609300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	96	COG2124	NULL
1586	4503195	Disease	p.Phe93Cys	609300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	74	pfam00067	NULL
1586	4503195	Disease	p.Phe114Val	609300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	130	COG2124	NULL
1586	4503195	Disease	p.Phe114Val	609300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	97	pfam00067	NULL
1586	4503195	Disease	p.Asp116Val	609300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL	OMIM	132	COG2124	NULL
1586	4503195	Disease	p.Asp116Val	609300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL	OMIM	99	pfam00067	NULL
1586	4503195	Disease	p.Arg347Cys	609300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL	OMIM	388	COG2124	NULL
1586	4503195	Disease	p.Arg347Cys	609300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL	OMIM	388	pfam00067	NULL
1586	4503195	Disease	p.Arg362Cys	609300.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	403	COG2124	NULL
1586	4503195	Disease	p.Arg362Cys	609300.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	403	pfam00067	NULL
1586	4503195	Disease	p.Trp406Arg	609300.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	453	COG2124	NULL
1586	4503195	Disease	p.Trp406Arg	609300.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	454	pfam00067	NULL
1586	4503195	Disease	p.Tyr329Asp	609300.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	369	COG2124	NULL
1586	4503195	Disease	p.Tyr329Asp	609300.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	360	pfam00067	NULL
1586	4503195	Disease	p.Pro428Leu	609300.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	490	COG2124	NULL
1586	4503195	Disease	p.Pro428Leu	609300.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	491	pfam00067	NULL
1586	4503195	Disease	p.Tyr201Asn	609300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL	OMIM	222	COG2124	NULL
1586	4503195	Disease	p.Tyr201Asn	609300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL	OMIM	204	pfam00067	NULL
1586	4503195	Disease	p.Arg96Gln	609300.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	102	COG2124	NULL
1586	4503195	Disease	p.Arg96Gln	609300.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	77	pfam00067	NULL
1586	4503195	Disease	p.Arg125Gln	609300.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	140	COG2124	NULL
1586	4503195	Disease	p.Arg125Gln	609300.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	109	pfam00067	NULL
1586	4503195	Disease	p.Arg416His	609300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	464	COG2124	NULL
1586	4503195	Disease	p.Arg416His	609300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE	OMIM	465	pfam00067	NULL
1586	4503195	Disease	p.Phe453Ser	609300.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL	OMIM	524	COG2124	NULL
1586	4503195	Disease	p.Phe453Ser	609300.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609300	17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL	OMIM	516	pfam00067	NULL
161742	57013078	Disease	p.Val44Asp	609291.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609291	LEGIUS SYNDROME	OMIM	36	cd01207	22749221,NP_689807
161742	57013078	Disease	p.Val44Asp	609291.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609291	LEGIUS SYNDROME	OMIM	37	cd00837	22749221,NP_689807
161742	57013078	Disease	p.Val44Asp	609291.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609291	LEGIUS SYNDROME	OMIM	44	pfam00568	22749221,NP_689807
161742	57013078	Disease	p.Val44Asp	609291.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609291	LEGIUS SYNDROME	OMIM	41	smart00461	22749221,NP_689807
55835	62899891	Disease	p.Glu1235Val	609279.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609279	MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 6	OMIM	78	pfam07202	130980075,NP_060921
25782	62511132	Disease	p.Gly1051Cys	609275.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609275	MARTSOLF SYNDROME	OMIM	No Domain	N/A	19923790,NP_036546
149998	39752679	Disease	p.Cys55Tyr	609252.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609252	HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO	OMIM	32	pfam00151	NULL
10161	34223726	Disease	p.Ile188Phe	609239.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609239	WOOLLY HAIR, AUTOSOMAL RECESSIVE 1	OMIM	184	pfam00001	241982708,NP_001155970|241982706,NP_001155969|33695113,NP_005758
10161	34223726	Disease	p.Ile188Phe	609239.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609239	WOOLLY HAIR, AUTOSOMAL RECESSIVE 1	OMIM	184	pfam00001	241982708,NP_001155970|241982706,NP_001155969|33695113,NP_005758
10161	34223726	Disease	p.Ile188Phe	609239.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609239	WOOLLY HAIR, AUTOSOMAL RECESSIVE 1	OMIM	184	pfam00001	241982708,NP_001155970|241982706,NP_001155969|33695113,NP_005758
10161	34223726	Disease	p.Gly146Arg	609239.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609239	HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3	OMIM	126	pfam00001	241982708,NP_001155970|241982706,NP_001155969|33695113,NP_005758
10161	34223726	Disease	p.Gly146Arg	609239.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609239	HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3	OMIM	126	pfam00001	241982708,NP_001155970|241982706,NP_001155969|33695113,NP_005758
10161	34223726	Disease	p.Gly146Arg	609239.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609239	HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3	OMIM	126	pfam00001	241982708,NP_001155970|241982706,NP_001155969|33695113,NP_005758
10161	34223726	Disease	p.Glu189Lys	609239.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609239	WOOLLY HAIR, AUTOSOMAL RECESSIVE 1||HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3	OMIM	185	pfam00001	241982708,NP_001155970|241982706,NP_001155969|33695113,NP_005758
10161	34223726	Disease	p.Glu189Lys	609239.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609239	WOOLLY HAIR, AUTOSOMAL RECESSIVE 1||HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3	OMIM	185	pfam00001	241982708,NP_001155970|241982706,NP_001155969|33695113,NP_005758
10161	34223726	Disease	p.Glu189Lys	609239.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609239	WOOLLY HAIR, AUTOSOMAL RECESSIVE 1||HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3	OMIM	185	pfam00001	241982708,NP_001155970|241982706,NP_001155969|33695113,NP_005758
4043	231539	Disease	p.Met1Ile	609196.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609196	GLUCOCORTICOID DEFICIENCY 2	OMIM	No Domain	N/A	4505021,NP_002328
136647	71153365	Disease	p.Met144Val	609188.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609188	TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1	OMIM	No Domain	N/A	20162566,NP_619646
79783	71152390	Disease	p.Arg299Trp	609187.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609187	GLUTARIC ACIDURIA III	OMIM	317	COG1804	300863128,NP_001180242
79783	13376042	Disease	p.Arg299Trp	609187.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609187	GLUTARIC ACIDURIA III	OMIM	368	COG1804	NULL
79783	300863124	Disease	p.Arg299Trp	609187.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609187	GLUTARIC ACIDURIA III	OMIM	317	COG1804	NULL
79783	300863126	Disease	p.Arg299Trp	609187.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609187	GLUTARIC ACIDURIA III	OMIM	380	COG1804	NULL
728294	91208273	Disease	p.Val444Ala	609186.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609186	D-2-HYDROXYGLUTARIC ACIDURIA, SEVERE	OMIM	744	COG0277	119964728,NP_689996
728294	91208273	Disease	p.Val444Ala	609186.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609186	D-2-HYDROXYGLUTARIC ACIDURIA, SEVERE	OMIM	246	pfam02913	119964728,NP_689996
728294	91208273	Disease	p.Ile147Ser	609186.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609186	D-2-HYDROXYGLUTARIC ACIDURIA, SEVERE	OMIM	116	COG0277	119964728,NP_689996
728294	91208273	Disease	p.Ile147Ser	609186.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609186	D-2-HYDROXYGLUTARIC ACIDURIA, SEVERE	OMIM	72	pfam01565	119964728,NP_689996
728294	91208273	Disease	p.Asn439Asp	609186.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609186	D-2-HYDROXYGLUTARIC ACIDURIA, MILD	OMIM	738	COG0277	119964728,NP_689996
728294	91208273	Disease	p.Asn439Asp	609186.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609186	D-2-HYDROXYGLUTARIC ACIDURIA, MILD	OMIM	241	pfam02913	119964728,NP_689996
728294	91208273	Disease	p.Asp375Tyr	609186.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609186	D-2-HYDROXYGLUTARIC ACIDURIA	OMIM	514	COG0277	119964728,NP_689996
728294	91208273	Disease	p.Asp375Tyr	609186.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609186	D-2-HYDROXYGLUTARIC ACIDURIA	OMIM	141	pfam02913	119964728,NP_689996
65055	74733929	Disease	p.Ala20Glu	609139.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609139	SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT	OMIM	19	pfam03134	12597657,NP_075063
65055	257900514	Disease	p.Ala20Glu	609139.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609139	SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT	OMIM	59	pfam03134	NULL
65055	257900516	Disease	p.Ala20Glu	609139.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609139	SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT	OMIM	12	pfam03134	NULL
65055	257900518	Disease	p.Ala20Glu	609139.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609139	SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT	OMIM	19	pfam03134	NULL
57104	74731110	Disease	p.Pro195Leu	609059.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609059	NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY	OMIM	188	cd07221	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	609059.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609059	NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY	OMIM	188	cd07218	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	609059.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609059	NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY	OMIM	217	cd07210	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	609059.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609059	NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY	OMIM	234	cd07220	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	609059.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609059	NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY	OMIM	197	cd07223	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	609059.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609059	NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY	OMIM	201	cd07219	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	609059.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609059	NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY	OMIM	397	COG1752	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	609059.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609059	NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY	OMIM	282	cd07209	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	609059.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609059	NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY	OMIM	219	cd07224	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	609059.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609059	NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY	OMIM	193	cd07204	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	609059.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609059	NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY	OMIM	223	cd07222	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	609059.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609059	NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY	OMIM	309	cd07208	32698724,NP_065109
4594	156105689	Disease	p.Trp105Arg	609058.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	2	cd00512	NULL
4594	156105689	Disease	p.Trp105Arg	609058.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	2	cd03681	NULL
4594	156105689	Disease	p.Trp105Arg	609058.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	86	cd03677	NULL
4594	156105689	Disease	p.Trp105Arg	609058.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	81	cd03680	NULL
4594	156105689	Disease	p.Trp105Arg	609058.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	75	cd03679	NULL
4594	156105689	Disease	p.Trp105Arg	609058.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	51	pfam01642	NULL
4594	156105689	Disease	p.Trp105Arg	609058.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	83	cd03678	NULL
4594	156105689	Disease	p.Trp105Arg	609058.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	87	COG1884	NULL
4594	156105689	Disease	p.Ala378Glu	609058.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	315	cd00512	NULL
4594	156105689	Disease	p.Ala378Glu	609058.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	279	cd03681	NULL
4594	156105689	Disease	p.Ala378Glu	609058.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	395	cd03677	NULL
4594	156105689	Disease	p.Ala378Glu	609058.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	355	cd03680	NULL
4594	156105689	Disease	p.Ala378Glu	609058.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	348	cd03679	NULL
4594	156105689	Disease	p.Ala378Glu	609058.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	330	pfam01642	NULL
4594	156105689	Disease	p.Ala378Glu	609058.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	424	cd03678	NULL
4594	156105689	Disease	p.Ala378Glu	609058.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	406	COG1884	NULL
4594	156105689	Disease	p.Arg93His	609058.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	74	cd03677	NULL
4594	156105689	Disease	p.Arg93His	609058.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	69	cd03680	NULL
4594	156105689	Disease	p.Arg93His	609058.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	63	cd03679	NULL
4594	156105689	Disease	p.Arg93His	609058.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	39	pfam01642	NULL
4594	156105689	Disease	p.Arg93His	609058.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	71	cd03678	NULL
4594	156105689	Disease	p.Arg93His	609058.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	72	COG1884	NULL
4594	156105689	Disease	p.Gly717Val	609058.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(-) TYPE	OMIM	238	pfam02310	NULL
4594	156105689	Disease	p.Gly717Val	609058.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(-) TYPE	OMIM	137	COG2185	NULL
4594	156105689	Disease	p.Gly717Val	609058.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(-) TYPE	OMIM	119	cd02071	NULL
4594	156105689	Disease	p.Gly717Val	609058.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(-) TYPE	OMIM	167	cd02065	NULL
4594	156105689	Disease	p.Gly717Val	609058.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(-) TYPE	OMIM	128	cd02067	NULL
4594	156105689	Disease	p.Gly623Arg	609058.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	13	pfam02310	NULL
4594	156105689	Disease	p.Gly623Arg	609058.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	29	COG2185	NULL
4594	156105689	Disease	p.Gly623Arg	609058.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	8	cd02071	NULL
4594	156105689	Disease	p.Gly623Arg	609058.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	8	cd02065	NULL
4594	156105689	Disease	p.Gly623Arg	609058.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	8	cd02067	NULL
4594	156105689	Disease	p.Gly703Arg	609058.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	215	pfam02310	NULL
4594	156105689	Disease	p.Gly703Arg	609058.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	117	COG2185	NULL
4594	156105689	Disease	p.Gly703Arg	609058.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	91	cd02071	NULL
4594	156105689	Disease	p.Gly703Arg	609058.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	142	cd02065	NULL
4594	156105689	Disease	p.Gly703Arg	609058.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	103	cd02067	NULL
4594	156105689	Disease	p.Asn219Tyr	609058.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	148	cd00512	NULL
4594	156105689	Disease	p.Asn219Tyr	609058.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	116	cd03681	NULL
4594	156105689	Disease	p.Asn219Tyr	609058.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	212	cd03677	NULL
4594	156105689	Disease	p.Asn219Tyr	609058.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	195	cd03680	NULL
4594	156105689	Disease	p.Asn219Tyr	609058.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	189	cd03679	NULL
4594	156105689	Disease	p.Asn219Tyr	609058.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	169	pfam01642	NULL
4594	156105689	Disease	p.Asn219Tyr	609058.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	266	cd03678	NULL
4594	156105689	Disease	p.Asn219Tyr	609058.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	242	COG1884	NULL
4594	156105689	Disease	p.Arg108Cys	609058.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	5	cd00512	NULL
4594	156105689	Disease	p.Arg108Cys	609058.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	5	cd03681	NULL
4594	156105689	Disease	p.Arg108Cys	609058.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	89	cd03677	NULL
4594	156105689	Disease	p.Arg108Cys	609058.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	84	cd03680	NULL
4594	156105689	Disease	p.Arg108Cys	609058.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	78	cd03679	NULL
4594	156105689	Disease	p.Arg108Cys	609058.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	54	pfam01642	NULL
4594	156105689	Disease	p.Arg108Cys	609058.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	85	cd03678	NULL
4594	156105689	Disease	p.Arg108Cys	609058.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	90	COG1884	NULL
4594	156105689	Disease	p.Gly215Ser	609058.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	144	cd00512	NULL
4594	156105689	Disease	p.Gly215Ser	609058.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	112	cd03681	NULL
4594	156105689	Disease	p.Gly215Ser	609058.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	208	cd03677	NULL
4594	156105689	Disease	p.Gly215Ser	609058.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	191	cd03680	NULL
4594	156105689	Disease	p.Gly215Ser	609058.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	185	cd03679	NULL
4594	156105689	Disease	p.Gly215Ser	609058.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	165	pfam01642	NULL
4594	156105689	Disease	p.Gly215Ser	609058.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	262	cd03678	NULL
4594	156105689	Disease	p.Gly215Ser	609058.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609058	METHYLMALONIC ACIDURIA, mut(0) TYPE	OMIM	238	COG1884	NULL
9119	239938651	Disease	p.Ala12Thr	609025.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609025	PSEUDOFOLLICULITIS BARBAE, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	153791158,NP_004684
25953	21703352	Disease	p.Ala9Val	609023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609023	PAROXYSMAL NONKINESIGENIC DYSKINESIA 1	OMIM	No Domain	N/A	NULL
25953	116642885	Disease	p.Ala9Val	609023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609023	PAROXYSMAL NONKINESIGENIC DYSKINESIA 1	OMIM	No Domain	N/A	NULL
25953	158563846	Disease	p.Ala9Val	609023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609023	PAROXYSMAL NONKINESIGENIC DYSKINESIA 1	OMIM	No Domain	N/A	116642887,NP_056303
25953	21703352	Disease	p.Ala7Val	609023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609023	PAROXYSMAL NONKINESIGENIC DYSKINESIA 1	OMIM	No Domain	N/A	NULL
25953	116642885	Disease	p.Ala7Val	609023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609023	PAROXYSMAL NONKINESIGENIC DYSKINESIA 1	OMIM	No Domain	N/A	NULL
25953	158563846	Disease	p.Ala7Val	609023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609023	PAROXYSMAL NONKINESIGENIC DYSKINESIA 1	OMIM	No Domain	N/A	116642887,NP_056303
25953	21703352	Disease	p.Ala33Pro	609023.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609023	PAROXYSMAL NONKINESIGENIC DYSKINESIA 1	OMIM	No Domain	N/A	NULL
25953	116642885	Disease	p.Ala33Pro	609023.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609023	PAROXYSMAL NONKINESIGENIC DYSKINESIA 1	OMIM	No Domain	N/A	NULL
25953	158563846	Disease	p.Ala33Pro	609023.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609023	PAROXYSMAL NONKINESIGENIC DYSKINESIA 1	OMIM	No Domain	N/A	116642887,NP_056303
221833	39812496	Disease	p.Arg538Cys	609019.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609019	BIOTINIDASE DEFICIENCY	OMIM	No Domain	N/A	NULL
221833	39812501	Disease	p.Arg538Cys	609019.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609019	BIOTINIDASE DEFICIENCY	OMIM	No Domain	N/A	NULL
221833	39812496	Disease	p.Gly34Ser	609019.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609019	BIOTINIDASE DEFICIENCY	OMIM	No Domain	N/A	NULL
221833	39812501	Disease	p.Gly34Ser	609019.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609019	BIOTINIDASE DEFICIENCY	OMIM	No Domain	N/A	NULL
221833	39812496	Disease	p.Ala171Thr	609019.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609019	BIOTINIDASE DEFICIENCY	OMIM	No Domain	N/A	NULL
221833	39812501	Disease	p.Ala171Thr	609019.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609019	BIOTINIDASE DEFICIENCY	OMIM	No Domain	N/A	NULL
221833	39812496	Disease	p.Asp252Gly	609019.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609019	BIOTINIDASE DEFICIENCY	OMIM	No Domain	N/A	NULL
221833	39812501	Disease	p.Asp252Gly	609019.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609019	BIOTINIDASE DEFICIENCY	OMIM	No Domain	N/A	NULL
221833	39812496	Disease	p.Gln456His	609019.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609019	BIOTINIDASE DEFICIENCY	OMIM	No Domain	N/A	NULL
221833	39812501	Disease	p.Gln456His	609019.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609019	BIOTINIDASE DEFICIENCY	OMIM	No Domain	N/A	NULL
221833	39812496	Disease	p.Asn489Thr	609019.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609019	BIOTINIDASE DEFICIENCY	OMIM	No Domain	N/A	NULL
221833	39812501	Disease	p.Asn489Thr	609019.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609019	BIOTINIDASE DEFICIENCY	OMIM	No Domain	N/A	NULL
221833	39812496	Disease	p.Phe403Val	609019.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609019	BIOTINIDASE DEFICIENCY	OMIM	No Domain	N/A	NULL
221833	39812501	Disease	p.Phe403Val	609019.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609019	BIOTINIDASE DEFICIENCY	OMIM	25	smart00355	NULL
221833	39812501	Disease	p.Phe403Val	609019.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609019	BIOTINIDASE DEFICIENCY	OMIM	25	pfam00096	NULL
221833	39812496	Disease	p.Arg79Cys	609019.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609019	BIOTINIDASE DEFICIENCY	OMIM	No Domain	N/A	NULL
221833	39812501	Disease	p.Arg79Cys	609019.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609019	BIOTINIDASE DEFICIENCY	OMIM	No Domain	N/A	NULL
221833	39812496	Disease	p.Thr532Met	609019.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609019	BIOTINIDASE DEFICIENCY	OMIM	No Domain	N/A	NULL
221833	39812501	Disease	p.Thr532Met	609019.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609019	BIOTINIDASE DEFICIENCY	OMIM	No Domain	N/A	NULL
3141	1705499	Disease	p.Leu237Pro	609018.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609018	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY	OMIM	81	pfam09825	46255045,NP_000402
3141	1705499	Disease	p.Asp571Asn	609018.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609018	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY	OMIM	134	COG0340	46255045,NP_000402
3141	1705499	Disease	p.Asp571Asn	609018.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609018	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY	OMIM	132	pfam03099	46255045,NP_000402
3141	1705499	Disease	p.Arg508Trp	609018.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609018	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY	OMIM	50	COG0340	46255045,NP_000402
3141	1705499	Disease	p.Arg508Trp	609018.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609018	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY	OMIM	44	pfam03099	46255045,NP_000402
3141	1705499	Disease	p.Gly581Ser	609018.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609018	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY	OMIM	173	COG0340	46255045,NP_000402
3141	1705499	Disease	p.Gly581Ser	609018.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609018	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY	OMIM	155	pfam03099	46255045,NP_000402
3141	1705499	Disease	p.Val550Met	609018.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609018	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY	OMIM	96	COG0340	46255045,NP_000402
3141	1705499	Disease	p.Val550Met	609018.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609018	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY	OMIM	90	pfam03099	46255045,NP_000402
3141	1705499	Disease	p.Leu216Arg	609018.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609018	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY	OMIM	52	pfam09825	46255045,NP_000402
114625	74761033	Disease	p.Gly57Arg	609017.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, SC:-1,2	OMIM	26	smart00409	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Gly57Arg	609017.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, SC:-1,2	OMIM	26	smart00410	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Gly57Arg	609017.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, SC:-1,2	OMIM	23	cd00096	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Gly57Arg	609017.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, SC:-1,2	OMIM	11	smart00406	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Gly57Arg	609017.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, SC:-1,2	OMIM	22	cd05716	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Gly57Arg	609017.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, SC:-1,2	OMIM	27	pfam07686	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Gly57Arg	609017.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, SC:-1,2	OMIM	11_G	cd05713	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Gly57Arg	609017.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, SC:-1,2	OMIM	26	smart00409	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Gly57Arg	609017.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, SC:-1,2	OMIM	26	smart00410	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Gly57Arg	609017.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, SC:-1,2	OMIM	23	cd00096	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Gly57Arg	609017.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, SC:-1,2	OMIM	11	smart00406	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Gly57Arg	609017.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, SC:-1,2	OMIM	22	cd05716	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Gly57Arg	609017.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, SC:-1,2	OMIM	27	pfam07686	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Gly57Arg	609017.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, SC:-1,2	OMIM	11_G	cd05713	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Pro60Ala	609017.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	RADIN BLOOD GROUP ANTIGEN	OMIM	38	smart00409	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Pro60Ala	609017.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	RADIN BLOOD GROUP ANTIGEN	OMIM	38	smart00410	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Pro60Ala	609017.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	RADIN BLOOD GROUP ANTIGEN	OMIM	26	cd00096	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Pro60Ala	609017.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	RADIN BLOOD GROUP ANTIGEN	OMIM	16	smart00406	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Pro60Ala	609017.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	RADIN BLOOD GROUP ANTIGEN	OMIM	25	cd05716	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Pro60Ala	609017.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	RADIN BLOOD GROUP ANTIGEN	OMIM	30	pfam07686	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Pro60Ala	609017.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	RADIN BLOOD GROUP ANTIGEN	OMIM	12	cd05713	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Pro60Ala	609017.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	RADIN BLOOD GROUP ANTIGEN	OMIM	38	smart00409	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Pro60Ala	609017.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	RADIN BLOOD GROUP ANTIGEN	OMIM	38	smart00410	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Pro60Ala	609017.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	RADIN BLOOD GROUP ANTIGEN	OMIM	26	cd00096	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Pro60Ala	609017.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	RADIN BLOOD GROUP ANTIGEN	OMIM	16	smart00406	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Pro60Ala	609017.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	RADIN BLOOD GROUP ANTIGEN	OMIM	25	cd05716	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Pro60Ala	609017.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	RADIN BLOOD GROUP ANTIGEN	OMIM	30	pfam07686	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Pro60Ala	609017.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	RADIN BLOOD GROUP ANTIGEN	OMIM	12	cd05713	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Glu47Lys	609017.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, STAR ANTIGEN	OMIM	15	smart00409	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Glu47Lys	609017.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, STAR ANTIGEN	OMIM	15	smart00410	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Glu47Lys	609017.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, STAR ANTIGEN	OMIM	2	cd00096	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Glu47Lys	609017.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, STAR ANTIGEN	OMIM	3	smart00406	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Glu47Lys	609017.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, STAR ANTIGEN	OMIM	11	cd05716	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Glu47Lys	609017.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, STAR ANTIGEN	OMIM	11	pfam07686	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Glu47Lys	609017.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, STAR ANTIGEN	OMIM	5	cd05713	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Glu47Lys	609017.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, STAR ANTIGEN	OMIM	15	smart00409	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Glu47Lys	609017.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, STAR ANTIGEN	OMIM	15	smart00410	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Glu47Lys	609017.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, STAR ANTIGEN	OMIM	2	cd00096	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Glu47Lys	609017.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, STAR ANTIGEN	OMIM	3	smart00406	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Glu47Lys	609017.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, STAR ANTIGEN	OMIM	11	cd05716	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Glu47Lys	609017.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, STAR ANTIGEN	OMIM	11	pfam07686	63054855,NP_001017922|19923536,NP_061008
114625	74761033	Disease	p.Glu47Lys	609017.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609017	SCIANNA BLOOD GROUP SYSTEM, STAR ANTIGEN	OMIM	5	cd05713	63054855,NP_001017922|19923536,NP_061008
64087	20138731	Disease	p.Glu99Gln	609014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609014	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY	OMIM	26	pfam01039	11545863,NP_071415
64087	20138731	Disease	p.Glu99Gln	609014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609014	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY	OMIM	69	COG4799	11545863,NP_071415
64087	20138731	Disease	p.Arg155Gln	609014.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609014	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY	OMIM	91	pfam01039	11545863,NP_071415
64087	20138731	Disease	p.Arg155Gln	609014.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609014	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY	OMIM	143	COG4799	11545863,NP_071415
64087	20138731	Disease	p.Pro310Arg	609014.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609014	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY	OMIM	286	pfam01039	11545863,NP_071415
64087	20138731	Disease	p.Pro310Arg	609014.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609014	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY	OMIM	325	COG4799	11545863,NP_071415
64087	20138731	Disease	p.Cys167Arg	609014.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609014	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY	OMIM	118	pfam01039	11545863,NP_071415
64087	20138731	Disease	p.Cys167Arg	609014.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609014	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY	OMIM	155	COG4799	11545863,NP_071415
64087	20138731	Disease	p.Arg268Thr	609014.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609014	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY	OMIM	236	pfam01039	11545863,NP_071415
64087	20138731	Disease	p.Arg268Thr	609014.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609014	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY	OMIM	273	COG4799	11545863,NP_071415
64087	20138731	Disease	p.Ile437Val	609014.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609014	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY	OMIM	461	pfam01039	11545863,NP_071415
64087	20138731	Disease	p.Ile437Val	609014.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609014	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY	OMIM	485	COG4799	11545863,NP_071415
64087	20138731	Disease	p.His190Arg	609014.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609014	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY	OMIM	141	pfam01039	11545863,NP_071415
64087	20138731	Disease	p.His190Arg	609014.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609014	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY	OMIM	178	COG4799	11545863,NP_071415
64087	20138731	Disease	p.Asp280Tyr	609014.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609014	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY	OMIM	248	pfam01039	11545863,NP_071415
64087	20138731	Disease	p.Asp280Tyr	609014.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609014	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY	OMIM	285	COG4799	11545863,NP_071415
56922	108861983	Disease	p.Met325Arg	609010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	168	pfam02222	116805327,NP_064551
56922	108861983	Disease	p.Met325Arg	609010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	279	COG4770	116805327,NP_064551
56922	108861983	Disease	p.Met325Arg	609010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	352	COG0439	116805327,NP_064551
56922	108861983	Disease	p.Met325Arg	609010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	168	pfam02786	116805327,NP_064551
56922	108861983	Disease	p.Met325Arg	609010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	173	pfam08443	116805327,NP_064551
56922	108861983	Disease	p.Met325Arg	609010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	367	COG1181	116805327,NP_064551
56922	108861983	Disease	p.Met325Arg	609010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	177	pfam07478	116805327,NP_064551
56922	108861983	Disease	p.Met325Arg	609010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	345	COG0458	116805327,NP_064551
56922	108861983	Disease	p.Met325Arg	609010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	290	COG1038	116805327,NP_064551
56922	108861983	Disease	p.Arg385Ser	609010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	351	COG4770	116805327,NP_064551
56922	108861983	Disease	p.Arg385Ser	609010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	461	COG0439	116805327,NP_064551
56922	108861983	Disease	p.Arg385Ser	609010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	3	pfam02785	116805327,NP_064551
56922	108861983	Disease	p.Arg385Ser	609010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	3	smart00878	116805327,NP_064551
56922	108861983	Disease	p.Arg385Ser	609010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	428	COG0458	116805327,NP_064551
56922	108861983	Disease	p.Arg385Ser	609010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	357	COG1038	116805327,NP_064551
56922	108861983	Disease	p.Asp532His	609010.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	511	COG4770	116805327,NP_064551
56922	108861983	Disease	p.Asp532His	609010.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	650	COG1038	116805327,NP_064551
56922	108861983	Disease	p.Leu437Pro	609010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	417	COG4770	116805327,NP_064551
56922	108861983	Disease	p.Leu437Pro	609010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	526	COG0439	116805327,NP_064551
56922	108861983	Disease	p.Leu437Pro	609010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	105	pfam02785	116805327,NP_064551
56922	108861983	Disease	p.Leu437Pro	609010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	194	smart00878	116805327,NP_064551
56922	108861983	Disease	p.Leu437Pro	609010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	484	COG0458	116805327,NP_064551
56922	108861983	Disease	p.Leu437Pro	609010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	409	COG1038	116805327,NP_064551
56922	108861983	Disease	p.Ser535Phe	609010.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	514	COG4770	116805327,NP_064551
56922	108861983	Disease	p.Ser535Phe	609010.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	653	COG1038	116805327,NP_064551
56922	108861983	Disease	p.Ile460Met	609010.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	440	COG4770	116805327,NP_064551
56922	108861983	Disease	p.Ile460Met	609010.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	551	COG0439	116805327,NP_064551
56922	108861983	Disease	p.Ile460Met	609010.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	133	pfam02785	116805327,NP_064551
56922	108861983	Disease	p.Ile460Met	609010.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	225	smart00878	116805327,NP_064551
56922	108861983	Disease	p.Ile460Met	609010.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609010	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	OMIM	432	COG1038	116805327,NP_064551
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	277	COG1100	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	104	cd01867	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	106	cd01866	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	108	cd04114	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	504	cd00882	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	102	cd01871	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	102	cd01865	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	104	cd04115	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	102	cd01870	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	107	cd04110	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	134	pfam08477	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	116	pfam00071	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	125	smart00175	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	190	cd04112	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	108	cd00877	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	105	cd01869	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	103	cd04122	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	115	cd04127	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	104	cd01861	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	104	cd01862	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	112	cd01863	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	105	cd04113	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	264	cd00154	NULL
120892	171846278	Disease	p.Arg1441Gly	609007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	101	cd04117	NULL
120892	171846278	Disease	p.Tyr1699Cys	609007.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	277	COG1100	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	104	cd01867	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	106	cd01866	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	108	cd04114	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	504	cd00882	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	102	cd01871	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	102	cd01865	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	104	cd04115	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	102	cd01870	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	107	cd04110	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	134	pfam08477	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	116	pfam00071	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	125	smart00175	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	190	cd04112	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	108	cd00877	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	105	cd01869	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	103	cd04122	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	115	cd04127	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	104	cd01861	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	104	cd01862	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	112	cd01863	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	105	cd04113	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	264	cd00154	NULL
120892	171846278	Disease	p.Arg1441Cys	609007.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	101	cd04117	NULL
79742	193804856	Disease	p.Arg1441Cys	609007.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	MOVED TO 609007.0002	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Arg1441Cys	609007.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	MOVED TO 609007.0002	OMIM	No Domain	N/A	193804854,NP_789789
120892	171846278	Disease	p.Ile1122Val	609007.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	316	COG4886	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	177	cd05038	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	149	cd05052	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	623	smart00221	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	157	cd07868	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	169	cd06609	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	146	cd05612	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	194	cd06623	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd06615	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	163	cd05609	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	187	cd05574	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	157	cd07867	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	320	pfam07714	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	458	smart00219	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	172	cd05048	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	284	cd05055	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	164	cd07843	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	154	cd05111	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	164	cd06618	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	179	cd07851	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	163	cd07878	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	207	cd05057	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd06645	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd06646	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	167	cd05092	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	665	COG0515	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	164	cd05062	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	166	cd05036	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	154	cd05079	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	165	cd05061	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd07870	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	176	cd07866	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	195	cd07840	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	172	cd07838	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	188	cd06608	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	160	cd06616	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	172	cd07854	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	153	cd07856	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	149	cd07844	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	172	cd07835	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	155	cd07849	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd05069	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd05073	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd05070	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd05072	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	152	cd05034	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	213	cd05572	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	141	cd05579	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	140	cd05607	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	139	cd05084	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd05042	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	165	cd07832	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd05060	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	150	cd06611	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	140	cd05116	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	221	cd07830	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	661	cd05123	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	154	cd05118	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	152	cd07831	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	142	cd05608	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	145	cd05577	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	144	cd07839	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	138	cd05585	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	445	cd00180	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	154	cd07852	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	155	cd05078	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	172	cd05037	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	146	cd06642	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	146	cd06641	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	146	cd06640	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	165	cd07850	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	163	cd07880	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	164	cd06605	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	261	cd05581	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	164	cd05089	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	169	cd07865	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd06613	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	173	cd07855	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	161	cd06648	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	161	cd06619	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	161	cd06622	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	199	cd05580	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	150	cd06617	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	181	cd05056	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	145	cd05083	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd05082	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd05039	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	164	cd06632	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	141	cd05619	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	158	cd05074	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	168	cd05035	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	155	cd06629	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	149	cd06630	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	175	cd06652	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	150	cd05058	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	141	cd05603	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	216	cd08217	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	157	cd05047	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	140	cd05593	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	156	cd05592	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	195	cd07829	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	141	cd05571	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	191	cd07834	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	156	cd06917	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	141	cd05590	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	149	cd06631	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	140	cd05595	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	141	cd05591	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd08221	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd06625	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	205	cd08215	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	139	cd05085	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	143	cd05606	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	141	cd05588	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	141	cd05594	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	143	cd05582	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	141	cd05575	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	141	cd05602	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	142	cd05633	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	160	cd06612	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd06653	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	155	cd06621	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	530	smart00220	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	146	cd07846	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	146	cd05615	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd07859	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	168	cd08528	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	153	cd06628	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	146	cd08218	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd08228	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	145	cd08219	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd08229	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	149	cd07853	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	156	cd07863	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	185	cd05098	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd08529	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd06651	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	235	cd06606	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	162	cd07841	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd05605	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	156	cd08220	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd08225	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	180	cd05122	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	154	cd07857	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd05630	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	166	cd07845	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd07847	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	145	cd07860	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd07836	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	169	cd06638	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd06626	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	155	cd06627	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	146	cd05589	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	146	cd05616	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	150	cd05583	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd08222	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	172	cd05045	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	149	cd05584	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd05587	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	146	cd05578	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	154	cd08530	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd08223	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	255	cd07842	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	141	cd05041	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	162	cd05044	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	153	cd05040	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	143	cd05570	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	140	cd05115	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	152	cd05080	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	365	cd00192	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd06643	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	160	cd06634	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	159	cd06624	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	285	cd05105	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	160	cd06647	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	182	cd05101	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	186	cd05095	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	165	cd07877	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	170	cd06635	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	155	cd06644	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	164	cd07837	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	172	cd07833	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	157	cd06610	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	256	pfam00069	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	190	cd05043	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	180	cd06639	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd05065	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	154	cd07858	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	225	cd05103	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	223	cd05102	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	231	cd05046	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	153	cd05063	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd05071	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	169	cd05091	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	150	cd05148	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	169	cd05090	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	152	cd05064	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	154	cd05108	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	169	cd05088	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	154	cd05110	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	179	cd05100	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	179	cd05099	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	154	cd05109	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	177	cd05049	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	163	cd07864	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	162	cd06659	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd05066	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	153	cd05081	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	183	cd05033	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	209	cd05032	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	178	cd05050	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	152	cd08224	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	195	cd05053	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	160	cd06607	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	156	cd06637	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd05059	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	145	cd05114	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	146	cd05113	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	145	cd05112	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	150	cd05068	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd06620	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd05067	NULL
120892	171846278	Disease	p.Gly2019Ser	609007.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	197	cd06614	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	178	cd05038	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	150	cd05052	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	624	smart00221	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	158	cd07868	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	170	cd06609	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd05612	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	195	cd06623	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd06615	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	164	cd05609	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	207	cd05574	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	158	cd07867	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	321	pfam07714	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	459	smart00219	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	173	cd05048	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	285	cd05055	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	165	cd07843	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	155	cd05111	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	165	cd06618	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	180	cd07851	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	164	cd07878	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	208	cd05057	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	152	cd06645	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	152	cd06646	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	168	cd05092	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	666	COG0515	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	165	cd05062	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	167	cd05036	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	159	cd05079	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	166	cd05061	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	149	cd07870	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	177	cd07866	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	196	cd07840	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	173	cd07838	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	189	cd06608	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	161	cd06616	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	173	cd07854	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	154	cd07856	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	150	cd07844	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	173	cd07835	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	156	cd07849	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd05069	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	149	cd05073	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd05070	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	149	cd05072	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	153	cd05034	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	214	cd05572	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	142	cd05579	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	141	cd05607	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	140	cd05084	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	149	cd05042	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	166	cd07832	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd05060	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd06611	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	141	cd05116	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	222	cd07830	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	662	cd05123	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	155	cd05118	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	152_G	cd07831	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	143	cd05608	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	146	cd05577	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	145	cd07839	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	139	cd05585	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	446	cd00180	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	155	cd07852	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	156	cd05078	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	173	cd05037	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd06642	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd06641	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd06640	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	166	cd07850	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	164	cd07880	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	165	cd06605	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	262	cd05581	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	165	cd05089	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	170	cd07865	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	149	cd06613	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	174	cd07855	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	162	cd06648	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	162	cd06619	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	162	cd06622	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	200	cd05580	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd06617	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	182	cd05056	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	146	cd05083	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd05082	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	152	cd05039	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	165	cd06632	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	142	cd05619	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	159	cd05074	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	169	cd05035	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	156	cd06629	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	150	cd06630	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	176	cd06652	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd05058	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	142	cd05603	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	217	cd08217	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	158	cd05047	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	141	cd05593	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	157	cd05592	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	196	cd07829	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	142	cd05571	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	192	cd07834	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	157	cd06917	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	142	cd05590	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	150	cd06631	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	141	cd05595	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	142	cd05591	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd08221	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	152	cd06625	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	206	cd08215	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	140	cd05085	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	144	cd05606	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	142	cd05588	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	142	cd05594	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	144	cd05582	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	142	cd05575	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	142	cd05602	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	143	cd05633	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	161	cd06612	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	152	cd06653	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	156	cd06621	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	531	smart00220	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd07846	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd05615	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	149	cd07859	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	169	cd08528	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	154	cd06628	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd08218	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	152	cd08228	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	146	cd08219	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	152	cd08229	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	150	cd07853	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	157	cd07863	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	186	cd05098	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	152	cd08529	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	152	cd06651	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	240	cd06606	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	163	cd07841	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd05605	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	157	cd08220	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd08225	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	181	cd05122	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	155	cd07857	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd05630	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	167	cd07845	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	152	cd07847	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	146	cd07860	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	149	cd07836	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	170	cd06638	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	149	cd06626	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	156	cd06627	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd05589	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd05616	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd05583	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	152	cd08222	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	173	cd05045	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	150	cd05584	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	152	cd05587	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd05578	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	155	cd08530	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd08223	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	256	cd07842	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	142	cd05041	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	163	cd05044	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	154	cd05040	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	144	cd05570	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	141	cd05115	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	153	cd05080	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	366	cd00192	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	149	cd06643	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	161	cd06634	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	160	cd06624	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	286	cd05105	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	161	cd06647	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	183	cd05101	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	187	cd05095	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	166	cd07877	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	171	cd06635	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	156	cd06644	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	165	cd07837	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	173	cd07833	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	158	cd06610	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	257	pfam00069	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	191	cd05043	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	181	cd06639	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	152	cd05065	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	155	cd07858	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	226	cd05103	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	224	cd05102	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	232	cd05046	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	154	cd05063	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd05071	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	170	cd05091	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd05148	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	170	cd05090	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	153	cd05064	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	155	cd05108	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	170	cd05088	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	155	cd05110	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	180	cd05100	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	180	cd05099	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	155	cd05109	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	178	cd05049	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	164	cd07864	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	163	cd06659	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	152	cd05066	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	154	cd05081	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	184	cd05033	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	210	cd05032	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	179	cd05050	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	153	cd08224	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	196	cd05053	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	161	cd06607	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	157	cd06637	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd05059	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	146	cd05114	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	147	cd05113	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	146	cd05112	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	151	cd05068	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	160	cd06620	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	148	cd05067	NULL
120892	171846278	Disease	p.Ile2020Thr	609007.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	197_G	cd06614	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	277	COG1100	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	104	cd01867	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	106	cd01866	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	108	cd04114	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	504	cd00882	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	102	cd01871	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	102	cd01865	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	104	cd04115	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	102	cd01870	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	107	cd04110	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	134	pfam08477	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	116	pfam00071	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	125	smart00175	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	190	cd04112	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	108	cd00877	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	105	cd01869	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	103	cd04122	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	115	cd04127	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	104	cd01861	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	104	cd01862	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	112	cd01863	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	105	cd04113	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	264	cd00154	NULL
120892	171846278	Disease	p.Arg1441His	609007.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609007	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	OMIM	101	cd04117	NULL
81794	56121815	Disease	p.Ala25Thr	608990.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608990	WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE	OMIM	31	pfam01562	NULL
81794	56121815	Disease	p.Gly518Asp	608990.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608990	WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
81794	56121815	Disease	p.Gly700Cys	608990.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608990	WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
57010	20178284	Disease	p.Arg124Cys	608965.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608965	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B	OMIM	21	COG5126	21624641,NP_660201
100	113339	Disease	p.Lys80Arg	608958.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	166	pfam00962	47078295,NP_000013
100	113339	Disease	p.Lys80Arg	608958.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	79	cd01320	47078295,NP_000013
100	113339	Disease	p.Lys80Arg	608958.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	143	cd01292	47078295,NP_000013
100	113339	Disease	p.Lys80Arg	608958.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	99	COG1816	47078295,NP_000013
100	113339	Disease	p.Lys80Arg	608958.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	134	cd00443	47078295,NP_000013
100	113339	Disease	p.Arg101Trp	608958.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	187	pfam00962	47078295,NP_000013
100	113339	Disease	p.Arg101Trp	608958.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	100	cd01320	47078295,NP_000013
100	113339	Disease	p.Arg101Trp	608958.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	171	cd01292	47078295,NP_000013
100	113339	Disease	p.Arg101Trp	608958.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	120	COG1816	47078295,NP_000013
100	113339	Disease	p.Arg101Trp	608958.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	164	cd00443	47078295,NP_000013
100	113339	Disease	p.Arg101Gln	608958.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	187	pfam00962	47078295,NP_000013
100	113339	Disease	p.Arg101Gln	608958.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	100	cd01320	47078295,NP_000013
100	113339	Disease	p.Arg101Gln	608958.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	171	cd01292	47078295,NP_000013
100	113339	Disease	p.Arg101Gln	608958.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	120	COG1816	47078295,NP_000013
100	113339	Disease	p.Arg101Gln	608958.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	164	cd00443	47078295,NP_000013
100	113339	Disease	p.Arg211His	608958.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	312	pfam00962	47078295,NP_000013
100	113339	Disease	p.Arg211His	608958.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	226	cd01320	47078295,NP_000013
100	113339	Disease	p.Arg211His	608958.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	365	cd01292	47078295,NP_000013
100	113339	Disease	p.Arg211His	608958.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	241	COG1816	47078295,NP_000013
100	113339	Disease	p.Arg211His	608958.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	361	cd00443	47078295,NP_000013
100	113339	Disease	p.Leu304Arg	608958.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	424	pfam00962	47078295,NP_000013
100	113339	Disease	p.Leu304Arg	608958.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	337	cd01320	47078295,NP_000013
100	113339	Disease	p.Leu304Arg	608958.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	642	cd01292	47078295,NP_000013
100	113339	Disease	p.Leu304Arg	608958.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	397	COG1816	47078295,NP_000013
100	113339	Disease	p.Leu304Arg	608958.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	597	cd00443	47078295,NP_000013
100	113339	Disease	p.Ala329Val	608958.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	454	pfam00962	47078295,NP_000013
100	113339	Disease	p.Ala329Val	608958.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	363	cd01320	47078295,NP_000013
100	113339	Disease	p.Ala329Val	608958.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	689	cd01292	47078295,NP_000013
100	113339	Disease	p.Ala329Val	608958.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	424	COG1816	47078295,NP_000013
100	113339	Disease	p.Ala329Val	608958.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	627	cd00443	47078295,NP_000013
79742	193804856	Disease	p.Ala329Val	608958.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Ala329Val	608958.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
100	113339	Disease	p.Pro297Gln	608958.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	414	pfam00962	47078295,NP_000013
100	113339	Disease	p.Pro297Gln	608958.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	330	cd01320	47078295,NP_000013
100	113339	Disease	p.Pro297Gln	608958.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	604	cd01292	47078295,NP_000013
100	113339	Disease	p.Pro297Gln	608958.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	386	COG1816	47078295,NP_000013
100	113339	Disease	p.Pro297Gln	608958.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	578	cd00443	47078295,NP_000013
100	113339	Disease	p.Arg76Trp	608958.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	162	pfam00962	47078295,NP_000013
100	113339	Disease	p.Arg76Trp	608958.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	75	cd01320	47078295,NP_000013
100	113339	Disease	p.Arg76Trp	608958.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	139	cd01292	47078295,NP_000013
100	113339	Disease	p.Arg76Trp	608958.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	95	COG1816	47078295,NP_000013
100	113339	Disease	p.Arg76Trp	608958.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	130	cd00443	47078295,NP_000013
100	113339	Disease	p.Arg149Gln	608958.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	238	pfam00962	47078295,NP_000013
100	113339	Disease	p.Arg149Gln	608958.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	153	cd01320	47078295,NP_000013
100	113339	Disease	p.Arg149Gln	608958.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	238	cd01292	47078295,NP_000013
100	113339	Disease	p.Arg149Gln	608958.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	165	COG1816	47078295,NP_000013
100	113339	Disease	p.Arg149Gln	608958.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	237	cd00443	47078295,NP_000013
100	113339	Disease	p.Pro274Leu	608958.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	390	pfam00962	47078295,NP_000013
100	113339	Disease	p.Pro274Leu	608958.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	301	cd01320	47078295,NP_000013
100	113339	Disease	p.Pro274Leu	608958.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	562	cd01292	47078295,NP_000013
100	113339	Disease	p.Pro274Leu	608958.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	361	COG1816	47078295,NP_000013
100	113339	Disease	p.Pro274Leu	608958.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	554	cd00443	47078295,NP_000013
100	113339	Disease	p.Leu107Pro	608958.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	193	pfam00962	47078295,NP_000013
100	113339	Disease	p.Leu107Pro	608958.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	106	cd01320	47078295,NP_000013
100	113339	Disease	p.Leu107Pro	608958.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	177	cd01292	47078295,NP_000013
100	113339	Disease	p.Leu107Pro	608958.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	126	COG1816	47078295,NP_000013
100	113339	Disease	p.Leu107Pro	608958.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	170	cd00443	47078295,NP_000013
100	113339	Disease	p.Arg211Cys	608958.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	312	pfam00962	47078295,NP_000013
100	113339	Disease	p.Arg211Cys	608958.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	226	cd01320	47078295,NP_000013
100	113339	Disease	p.Arg211Cys	608958.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	365	cd01292	47078295,NP_000013
100	113339	Disease	p.Arg211Cys	608958.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	241	COG1816	47078295,NP_000013
100	113339	Disease	p.Arg211Cys	608958.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	361	cd00443	47078295,NP_000013
100	113339	Disease	p.Ala215Thr	608958.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	316	pfam00962	47078295,NP_000013
100	113339	Disease	p.Ala215Thr	608958.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	230	cd01320	47078295,NP_000013
100	113339	Disease	p.Ala215Thr	608958.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	369	cd01292	47078295,NP_000013
100	113339	Disease	p.Ala215Thr	608958.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	245	COG1816	47078295,NP_000013
100	113339	Disease	p.Ala215Thr	608958.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	365	cd00443	47078295,NP_000013
100	113339	Disease	p.Gly216Arg	608958.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	317	pfam00962	47078295,NP_000013
100	113339	Disease	p.Gly216Arg	608958.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	231	cd01320	47078295,NP_000013
100	113339	Disease	p.Gly216Arg	608958.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	370	cd01292	47078295,NP_000013
100	113339	Disease	p.Gly216Arg	608958.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	246	COG1816	47078295,NP_000013
100	113339	Disease	p.Gly216Arg	608958.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	366	cd00443	47078295,NP_000013
100	113339	Disease	p.Arg156Cys	608958.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	245	pfam00962	47078295,NP_000013
100	113339	Disease	p.Arg156Cys	608958.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	160	cd01320	47078295,NP_000013
100	113339	Disease	p.Arg156Cys	608958.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	245	cd01292	47078295,NP_000013
100	113339	Disease	p.Arg156Cys	608958.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	172	COG1816	47078295,NP_000013
100	113339	Disease	p.Arg156Cys	608958.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	244	cd00443	47078295,NP_000013
100	113339	Disease	p.Ser291Leu	608958.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	408	pfam00962	47078295,NP_000013
100	113339	Disease	p.Ser291Leu	608958.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	324	cd01320	47078295,NP_000013
100	113339	Disease	p.Ser291Leu	608958.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	598	cd01292	47078295,NP_000013
100	113339	Disease	p.Ser291Leu	608958.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	380	COG1816	47078295,NP_000013
100	113339	Disease	p.Ser291Leu	608958.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	572	cd00443	47078295,NP_000013
100	113339	Disease	p.Asp8Asn	608958.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE 2 ALLOZYME	OMIM	8	COG1816	47078295,NP_000013
100	113339	Disease	p.Gly74Val	608958.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	69	pfam00962	47078295,NP_000013
100	113339	Disease	p.Gly74Val	608958.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	73	cd01320	47078295,NP_000013
100	113339	Disease	p.Gly74Val	608958.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	137	cd01292	47078295,NP_000013
100	113339	Disease	p.Gly74Val	608958.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	93	COG1816	47078295,NP_000013
100	113339	Disease	p.Gly74Val	608958.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	OMIM	128	cd00443	47078295,NP_000013
100	113339	Disease	p.Leu152Met	608958.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	241	pfam00962	47078295,NP_000013
100	113339	Disease	p.Leu152Met	608958.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	156	cd01320	47078295,NP_000013
100	113339	Disease	p.Leu152Met	608958.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	241	cd01292	47078295,NP_000013
100	113339	Disease	p.Leu152Met	608958.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	168	COG1816	47078295,NP_000013
100	113339	Disease	p.Leu152Met	608958.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	240	cd00443	47078295,NP_000013
100	113339	Disease	p.Thr233Ile	608958.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	338	pfam00962	47078295,NP_000013
100	113339	Disease	p.Thr233Ile	608958.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	251	cd01320	47078295,NP_000013
100	113339	Disease	p.Thr233Ile	608958.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	427	cd01292	47078295,NP_000013
100	113339	Disease	p.Thr233Ile	608958.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	266	COG1816	47078295,NP_000013
100	113339	Disease	p.Thr233Ile	608958.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	ADENOSINE DEAMINASE DEFICIENCY, PARTIAL	OMIM	400	cd00443	47078295,NP_000013
100	113339	Disease	p.Tyr97Cys	608958.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADA DEFICIENCY	OMIM	183	pfam00962	47078295,NP_000013
100	113339	Disease	p.Tyr97Cys	608958.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADA DEFICIENCY	OMIM	96	cd01320	47078295,NP_000013
100	113339	Disease	p.Tyr97Cys	608958.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADA DEFICIENCY	OMIM	167	cd01292	47078295,NP_000013
100	113339	Disease	p.Tyr97Cys	608958.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADA DEFICIENCY	OMIM	116	COG1816	47078295,NP_000013
100	113339	Disease	p.Tyr97Cys	608958.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADA DEFICIENCY	OMIM	160	cd00443	47078295,NP_000013
100	113339	Disease	p.Arg156His	608958.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, LATE ONSET	OMIM	245	pfam00962	47078295,NP_000013
100	113339	Disease	p.Arg156His	608958.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, LATE ONSET	OMIM	160	cd01320	47078295,NP_000013
100	113339	Disease	p.Arg156His	608958.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, LATE ONSET	OMIM	245	cd01292	47078295,NP_000013
100	113339	Disease	p.Arg156His	608958.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, LATE ONSET	OMIM	172	COG1816	47078295,NP_000013
100	113339	Disease	p.Arg156His	608958.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608958	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, LATE ONSET	OMIM	244	cd00443	47078295,NP_000013
341640	73620903	Disease	p.Glu1974Lys	608945.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608945	FRASER SYNDROME	OMIM	102	smart00237	79749430,NP_997244
341640	73620903	Disease	p.Glu1974Lys	608945.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608945	FRASER SYNDROME	OMIM	98	pfam03160	79749430,NP_997244
341640	73620903	Disease	p.Glu1972Lys	608945.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608945	FRASER SYNDROME	OMIM	97	smart00237	79749430,NP_997244
341640	73620903	Disease	p.Glu1972Lys	608945.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608945	FRASER SYNDROME	OMIM	96	pfam03160	79749430,NP_997244
158326	295293182	Disease	p.Arg649Trp	608944.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608944	BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES	OMIM	65	cd03600	NULL
158326	295293182	Disease	p.Arg649Trp	608944.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608944	BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES	OMIM	73	cd03594	NULL
158326	295293182	Disease	p.Arg649Trp	608944.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608944	BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES	OMIM	73	cd03590	NULL
158326	295293182	Disease	p.Arg649Trp	608944.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608944	BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES	OMIM	64	cd03596	NULL
158326	295293182	Disease	p.Arg649Trp	608944.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608944	BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES	OMIM	67	cd03593	NULL
158326	295293182	Disease	p.Arg649Trp	608944.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608944	BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES	OMIM	96	cd03589	NULL
158326	295293182	Disease	p.Arg649Trp	608944.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608944	BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES	OMIM	193	smart00034	NULL
158326	295293182	Disease	p.Arg649Trp	608944.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608944	BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES	OMIM	58	cd03588	NULL
158326	295293182	Disease	p.Arg649Trp	608944.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608944	BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES	OMIM	54	pfam00059	NULL
158326	295293182	Disease	p.Arg649Trp	608944.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608944	BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES	OMIM	55	cd03592	NULL
158326	295293182	Disease	p.Arg649Trp	608944.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608944	BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES	OMIM	61	cd03602	NULL
158326	295293182	Disease	p.Arg649Trp	608944.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608944	BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES	OMIM	117	cd00037	NULL
158326	215274141	Disease	p.Arg649Trp	608944.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608944	BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES	OMIM	No Domain	N/A	122056683,NP_659403
158326	295293182	Disease	p.Gly1440Ser	608944.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608944	BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES	OMIM	No Domain	N/A	NULL
158326	215274141	Disease	p.Gly1440Ser	608944.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608944	BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES	OMIM	No Domain	N/A	122056683,NP_659403
200894	33598958	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	167	cd04161	NULL
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	79	cd04153	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	81	cd00879	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	75	smart00178	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	129	cd00880	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	311	cd00882	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	83	cd04155	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	177	COG1100	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	71	smart00177	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	85	cd04139	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	58	cd04150	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	117	cd04105	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	212	cd00154	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	83	pfam00025	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	57	cd04151	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	85	cd04154	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	67	cd04149	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	67	cd04152	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	58	cd04158	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	71	cd04159	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	61	cd04157	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	58	cd04161	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	85	cd04160	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	128	cd00878	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	58	cd04162	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	61	cd04156	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	79	cd04153	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	81	cd00879	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	75	smart00178	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	129	cd00880	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	311	cd00882	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	83	cd04155	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	177	COG1100	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	71	smart00177	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	85	cd04139	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	58	cd04150	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	117	cd04105	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	212	cd00154	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	83	pfam00025	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	57	cd04151	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	85	cd04154	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	67	cd04149	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	67	cd04152	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	58	cd04158	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	71	cd04159	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	61	cd04157	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	58	cd04161	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	85	cd04160	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	128	cd00878	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	58	cd04162	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	61	cd04156	292658834,NP_001167621|33598956,NP_878899
200894	292658837	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	163	cd04161	NULL
200894	292658837	Disease	p.Arg79Gln	608922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	297	cd00878	NULL
200894	33598958	Disease	p.Arg200Cys	608922.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	No Domain	N/A	NULL
200894	115503786	Disease	p.Arg200Cys	608922.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	437	COG1100	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg200Cys	608922.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	286	cd04105	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg200Cys	608922.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	197	cd04152	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg200Cys	608922.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	437	COG1100	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg200Cys	608922.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	286	cd04105	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg200Cys	608922.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	197	cd04152	292658834,NP_001167621|33598956,NP_878899
200894	292658837	Disease	p.Arg200Cys	608922.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608922	JOUBERT SYNDROME 8	OMIM	No Domain	N/A	NULL
83394	260166647	Disease	p.Gln626His	608921.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608921	CONE-ROD DYSTROPHY 5	OMIM	No Domain	N/A	NULL
83394	93140544	Disease	p.Gln626His	608921.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608921	CONE-ROD DYSTROPHY 5	OMIM	No Domain	N/A	190358515,NP_112497
91647	73917623	Disease	p.Trp94Arg	608918.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608918	ATP SYNTHASE DEFICIENCY, NUCLEAR-ENCODED	OMIM	86	COG5387	21735485,NP_663729
91647	73917623	Disease	p.Trp94Arg	608918.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608918	ATP SYNTHASE DEFICIENCY, NUCLEAR-ENCODED	OMIM	75	pfam07542	21735485,NP_663729
201294	51316668	Disease	p.Leu403Pro	608897.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608897	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3	OMIM	No Domain	N/A	46195765,NP_954712
79742	193804856	Disease	p.Leu403Pro	608897.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608897	MOVED TO 608897.0006	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Leu403Pro	608897.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608897	MOVED TO 608897.0006	OMIM	No Domain	N/A	193804854,NP_789789
201294	51316668	Disease	p.Phe857Cys	608897.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608897	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3	OMIM	154	pfam10540	46195765,NP_954712
6445	13431856	Disease	p.Cys283Tyr	608896.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608896	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C	OMIM	No Domain	N/A	4557847,NP_000222
6445	13431856	Disease	p.Glu263Lys	608896.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608896	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C	OMIM	No Domain	N/A	4557847,NP_000222
54806	199559532	Disease	p.Val443Asp	608894.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894	JOUBERT SYNDROME 3	OMIM	204	COG2319	NULL
54806	73921659	Disease	p.Val443Asp	608894.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894	JOUBERT SYNDROME 3	OMIM	204	COG2319	199559490,NP_001128303|31542701,NP_060121|199559438,NP_001128302
54806	73921659	Disease	p.Val443Asp	608894.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894	JOUBERT SYNDROME 3	OMIM	204	COG2319	199559490,NP_001128303|31542701,NP_060121|199559438,NP_001128302
54806	73921659	Disease	p.Val443Asp	608894.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894	JOUBERT SYNDROME 3	OMIM	204	COG2319	199559490,NP_001128303|31542701,NP_060121|199559438,NP_001128302
54806	199559532	Disease	p.Arg723Gln	608894.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894	JOUBERT SYNDROME 3	OMIM	116	smart00320	NULL
54806	199559532	Disease	p.Arg723Gln	608894.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894	JOUBERT SYNDROME 3	OMIM	63	pfam00400	NULL
54806	199559532	Disease	p.Arg723Gln	608894.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894	JOUBERT SYNDROME 3	OMIM	441	cd00200	NULL
54806	199559532	Disease	p.Arg723Gln	608894.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894	JOUBERT SYNDROME 3	OMIM	842	COG2319	NULL
54806	73921659	Disease	p.Arg723Gln	608894.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894	JOUBERT SYNDROME 3	OMIM	441	cd00200	199559490,NP_001128303|31542701,NP_060121|199559438,NP_001128302
54806	73921659	Disease	p.Arg723Gln	608894.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894	JOUBERT SYNDROME 3	OMIM	116	smart00320	199559490,NP_001128303|31542701,NP_060121|199559438,NP_001128302
54806	73921659	Disease	p.Arg723Gln	608894.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894	JOUBERT SYNDROME 3	OMIM	63	pfam00400	199559490,NP_001128303|31542701,NP_060121|199559438,NP_001128302
54806	73921659	Disease	p.Arg723Gln	608894.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894	JOUBERT SYNDROME 3	OMIM	842	COG2319	199559490,NP_001128303|31542701,NP_060121|199559438,NP_001128302
54806	73921659	Disease	p.Arg723Gln	608894.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894	JOUBERT SYNDROME 3	OMIM	441	cd00200	199559490,NP_001128303|31542701,NP_060121|199559438,NP_001128302
54806	73921659	Disease	p.Arg723Gln	608894.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894	JOUBERT SYNDROME 3	OMIM	116	smart00320	199559490,NP_001128303|31542701,NP_060121|199559438,NP_001128302
54806	73921659	Disease	p.Arg723Gln	608894.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894	JOUBERT SYNDROME 3	OMIM	63	pfam00400	199559490,NP_001128303|31542701,NP_060121|199559438,NP_001128302
54806	73921659	Disease	p.Arg723Gln	608894.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894	JOUBERT SYNDROME 3	OMIM	842	COG2319	199559490,NP_001128303|31542701,NP_060121|199559438,NP_001128302
54806	73921659	Disease	p.Arg723Gln	608894.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894	JOUBERT SYNDROME 3	OMIM	441	cd00200	199559490,NP_001128303|31542701,NP_060121|199559438,NP_001128302
54806	73921659	Disease	p.Arg723Gln	608894.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894	JOUBERT SYNDROME 3	OMIM	116	smart00320	199559490,NP_001128303|31542701,NP_060121|199559438,NP_001128302
54806	73921659	Disease	p.Arg723Gln	608894.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894	JOUBERT SYNDROME 3	OMIM	63	pfam00400	199559490,NP_001128303|31542701,NP_060121|199559438,NP_001128302
54806	73921659	Disease	p.Arg723Gln	608894.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608894	JOUBERT SYNDROME 3	OMIM	842	COG2319	199559490,NP_001128303|31542701,NP_060121|199559438,NP_001128302
340024	73919285	Disease	p.Asp173Asn	608893.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608893	HARTNUP DISORDER	OMIM	174	pfam00209	51468073,NP_001003841
340024	73919285	Disease	p.Asp173Asn	608893.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608893	HARTNUP DISORDER	OMIM	151	COG0733	51468073,NP_001003841
55636	148877246	Disease	p.Ile1028Val	608892.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608892	CHARGE SYNDROME	OMIM	78	cd00046	54112403,NP_060250
55636	148877246	Disease	p.Ile1028Val	608892.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608892	CHARGE SYNDROME	OMIM	133	pfam00176	54112403,NP_060250
55636	148877246	Disease	p.Ile1028Val	608892.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608892	CHARGE SYNDROME	OMIM	650	COG0553	54112403,NP_060250
55636	148877246	Disease	p.Ile1028Val	608892.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608892	CHARGE SYNDROME	OMIM	469	smart00487	54112403,NP_060250
55636	148877246	Disease	p.Leu1257Arg	608892.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608892	CHARGE SYNDROME	OMIM	1126	COG0553	54112403,NP_060250
55636	148877246	Disease	p.Arg2319Ser	608892.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608892	CHARGE SYNDROME	OMIM	No Domain	N/A	54112403,NP_060250
55636	148877246	Disease	p.Gly2108Arg	608892.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608892	CHARGE SYNDROME	OMIM	No Domain	N/A	54112403,NP_060250
55636	148877246	Disease	p.Ser834Phe	608892.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608892	CHARGE SYNDROME||HYPOGONADOTROPIC HYPOGONADISM	OMIM	88	smart00298	54112403,NP_060250
55636	148877246	Disease	p.Ser834Phe	608892.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608892	CHARGE SYNDROME||HYPOGONADOTROPIC HYPOGONADISM	OMIM	49	pfam00385	54112403,NP_060250
55636	148877246	Disease	p.Ser834Phe	608892.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608892	CHARGE SYNDROME||HYPOGONADOTROPIC HYPOGONADISM	OMIM	297	COG0553	54112403,NP_060250
55636	148877246	Disease	p.Ser834Phe	608892.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608892	CHARGE SYNDROME||HYPOGONADOTROPIC HYPOGONADISM	OMIM	62	cd00024	54112403,NP_060250
55636	148877246	Disease	p.His55Arg	608892.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608892	KALLMANN SYNDROME 5	OMIM	No Domain	N/A	54112403,NP_060250
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	144	cd01865	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	239	cd01860	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	145	cd04138	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	635	cd00882	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	374	cd00880	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	435	cd01881	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	162	cd04116	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	187_G	COG2229	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	184	cd00879	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	147	cd01869	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	145	cd04122	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	147	cd01867	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	145	cd04145	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	164	cd04115	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	248	cd04119	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	295	cd04105	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	178	smart00173	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	212	smart00175	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	397	cd00154	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	250	cd04107	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	156	cd04135	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	155	cd04123	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	171	cd01862	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	158	cd04127	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	145	cd04150	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	301	cd00157	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	189	cd04154	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	170	cd01863	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	205	cd04113	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	144	cd04117	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	156	cd01861	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	155	smart00177	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	167	cd04155	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	185	pfam00025	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	158	cd04110	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	171	cd04139	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	147	cd04161	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	160	cd01868	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	152	cd04162	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	209	pfam00071	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	147	cd04156	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	281	cd00878	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	240	cd04160	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	155	cd04157	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	297	cd04159	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	143	cd04151	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	175	cd04158	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	221	cd00876	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	168	cd04153	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	152	cd04149	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	151	cd04114	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	260	cd04152	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	375	COG1100	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	181	pfam09439	41327767,NP_001652
379	116241256	Disease	p.Gly169Ala	608845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3||BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	174	smart00178	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	11	cd01865	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	11	cd01860	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	11	cd04138	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	6	cd00882	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	6	cd00880	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	6	cd01881	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	15	cd04116	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	20	COG2229	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	33	cd00879	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	12	cd01869	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	12	cd04122	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	13	cd01867	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	12	cd04145	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	12	cd04115	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd04119	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd04105	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	smart00173	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	smart00175	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd00154	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd04107	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd04135	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd04123	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd01862	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	14	cd04127	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd00877	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd04150	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd00157	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	28	cd04154	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd01863	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd04113	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd04117	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd01861	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	23	smart00177	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	25	cd04155	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	27	pfam00025	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	16	cd04110	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd04139	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	cd04161	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	13	cd01868	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	cd04162	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	pfam00071	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	pfam08477	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	cd04156	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	cd00878	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	cd04160	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	cd04157	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	cd04159	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	cd04151	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	cd04158	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	cd00876	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	25	cd04153	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	19	cd04149	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	17	cd04114	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	13	cd04152	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	36	COG1100	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	13	pfam09439	41327767,NP_001652
379	116241256	Disease	p.Thr31Met	608845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	27	smart00178	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	145	cd01865	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	240	cd01860	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	146	cd04138	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	636	cd00882	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	375	cd00880	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	436	cd01881	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	163	cd04116	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	188	COG2229	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	185	cd00879	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	148	cd01869	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	146	cd04122	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	148	cd01867	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	146	cd04145	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	165	cd04115	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	249	cd04119	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	296	cd04105	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	179	smart00173	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	213	smart00175	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	398	cd00154	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	251	cd04107	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	157	cd04135	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	156	cd04123	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	172	cd01862	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	159	cd04127	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	146	cd04150	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	302	cd00157	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	190	cd04154	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	171	cd01863	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	206	cd04113	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	145	cd04117	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	157	cd01861	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	156	smart00177	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	168	cd04155	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	186	pfam00025	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	159	cd04110	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	172	cd04139	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	148	cd04161	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	161	cd01868	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	153	cd04162	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	210	pfam00071	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	148	cd04156	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	282	cd00878	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	241	cd04160	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	156	cd04157	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	298	cd04159	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	144	cd04151	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	176	cd04158	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	222	cd00876	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	169	cd04153	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	153	cd04149	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	152	cd04114	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	261	cd04152	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	416	COG1100	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	182	pfam09439	41327767,NP_001652
379	116241256	Disease	p.Leu170Trp	608845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	175	smart00178	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	11	cd01865	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	11	cd01860	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	11	cd04138	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	6	cd00882	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	6	cd00880	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	6	cd01881	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	15	cd04116	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	20	COG2229	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	33	cd00879	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	12	cd01869	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	12	cd04122	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	13	cd01867	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	12	cd04145	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	12	cd04115	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd04119	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd04105	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	smart00173	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	smart00175	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd00154	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd04107	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd04135	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd04123	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd01862	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	14	cd04127	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd00877	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd04150	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd00157	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	28	cd04154	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd01863	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd04113	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd04117	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd01861	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	23	smart00177	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	25	cd04155	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	27	pfam00025	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	16	cd04110	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	10	cd04139	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	cd04161	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	13	cd01868	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	cd04162	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	pfam00071	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	pfam08477	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	cd04156	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	cd00878	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	cd04160	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	cd04157	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	cd04159	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	cd04151	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	cd04158	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	9	cd00876	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	25	cd04153	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	19	cd04149	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	17	cd04114	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	13	cd04152	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	36	COG1100	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	13	pfam09439	41327767,NP_001652
379	116241256	Disease	p.Thr31Arg	608845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	BARDET-BIEDL SYNDROME 3	OMIM	27	smart00178	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	146	pfam01926	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	69	cd01865	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	113	cd01860	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	68	cd04138	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	383	cd00882	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	134	cd00880	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	153	cd01881	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	73	cd04116	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	95	COG2229	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	86	cd00879	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	71	cd01869	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	70	cd04122	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	71	cd01867	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	69	cd04145	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	71	cd04115	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	101	cd04119	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	123	cd04105	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	68	smart00173	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	90	smart00175	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	222	cd00154	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	130	cd04107	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	68	cd04135	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	78	cd04123	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	69	cd01862	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	82	cd04127	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	74	cd00877	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	63	cd04150	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	143	cd00157	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	90	cd04154	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	78	cd01863	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	72	cd04113	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	68	cd04117	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	71	cd01861	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	76	smart00177	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	88	cd04155	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	88	pfam00025	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	74	cd04110	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	90	cd04139	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	63	cd04161	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	75	cd01868	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	63	cd04162	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	82	pfam00071	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	98	pfam08477	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	66	cd04156	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	133	cd00878	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	90	cd04160	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	66	cd04157	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	76	cd04159	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	62	cd04151	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	63	cd04158	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	78	cd00876	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	84	cd04153	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	72	cd04149	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	75	cd04114	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	72	cd04152	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	211	COG1100	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	77	pfam09439	41327767,NP_001652
379	116241256	Disease	p.Arg89Val	608845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608845	RETINITIS PIGMENTOSA 55	OMIM	80	smart00178	41327767,NP_001652
145226	116242750	Disease	p.Tyr226Cys	608830.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	182	COG3967	186928839,NP_689656
145226	116242750	Disease	p.Tyr226Cys	608830.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	520	COG1028	186928839,NP_689656
145226	116242750	Disease	p.Tyr226Cys	608830.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	201	COG4221	186928839,NP_689656
145226	116242750	Disease	p.Tyr226Cys	608830.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	202	COG0300	186928839,NP_689656
145226	116242750	Disease	p.Thr49Met	608830.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	15	COG3967	186928839,NP_689656
145226	116242750	Disease	p.Thr49Met	608830.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	15	COG1028	186928839,NP_689656
145226	116242750	Disease	p.Thr49Met	608830.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	27	COG4221	186928839,NP_689656
145226	116242750	Disease	p.Thr49Met	608830.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	16	COG0300	186928839,NP_689656
145226	116242750	Disease	p.Thr49Met	608830.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	10	pfam00106	186928839,NP_689656
145226	116242750	Disease	p.Thr49Met	608830.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	10	pfam08659	186928839,NP_689656
145226	116242750	Disease	p.His151Asn	608830.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	116	COG3967	186928839,NP_689656
145226	116242750	Disease	p.His151Asn	608830.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	290	COG1028	186928839,NP_689656
145226	116242750	Disease	p.His151Asn	608830.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	135	COG4221	186928839,NP_689656
145226	116242750	Disease	p.His151Asn	608830.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	124	COG0300	186928839,NP_689656
145226	116242750	Disease	p.His151Asn	608830.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	163	pfam00106	186928839,NP_689656
145226	116242750	Disease	p.His151Asn	608830.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	176	pfam08659	186928839,NP_689656
145226	116242750	Disease	p.Pro230Ala	608830.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	186	COG3967	186928839,NP_689656
145226	116242750	Disease	p.Pro230Ala	608830.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	524	COG1028	186928839,NP_689656
145226	116242750	Disease	p.Pro230Ala	608830.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	205	COG4221	186928839,NP_689656
145226	116242750	Disease	p.Pro230Ala	608830.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	206	COG0300	186928839,NP_689656
145226	116242750	Disease	p.His151Asp	608830.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	116	COG3967	186928839,NP_689656
145226	116242750	Disease	p.His151Asp	608830.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	290	COG1028	186928839,NP_689656
145226	116242750	Disease	p.His151Asp	608830.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	135	COG4221	186928839,NP_689656
145226	116242750	Disease	p.His151Asp	608830.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	124	COG0300	186928839,NP_689656
145226	116242750	Disease	p.His151Asp	608830.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	163	pfam00106	186928839,NP_689656
145226	116242750	Disease	p.His151Asp	608830.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	176	pfam08659	186928839,NP_689656
145226	116242750	Disease	p.Leu99Ile	608830.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	59	COG3967	186928839,NP_689656
145226	116242750	Disease	p.Leu99Ile	608830.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	122	COG1028	186928839,NP_689656
145226	116242750	Disease	p.Leu99Ile	608830.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	80	COG4221	186928839,NP_689656
145226	116242750	Disease	p.Leu99Ile	608830.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	66	COG0300	186928839,NP_689656
145226	116242750	Disease	p.Leu99Ile	608830.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	90	pfam00106	186928839,NP_689656
145226	116242750	Disease	p.Leu99Ile	608830.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	114	pfam08659	186928839,NP_689656
145226	116242750	Disease	p.Ser175Pro	608830.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	141	COG3967	186928839,NP_689656
145226	116242750	Disease	p.Ser175Pro	608830.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	394	COG1028	186928839,NP_689656
145226	116242750	Disease	p.Ser175Pro	608830.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	160	COG4221	186928839,NP_689656
145226	116242750	Disease	p.Ser175Pro	608830.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	160	COG0300	186928839,NP_689656
145226	116242750	Disease	p.Ser175Pro	608830.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	193	pfam00106	186928839,NP_689656
145226	116242750	Disease	p.Ser175Pro	608830.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	203	pfam08659	186928839,NP_689656
145226	116242750	Disease	p.Ile51Asn	608830.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	17	COG3967	186928839,NP_689656
145226	116242750	Disease	p.Ile51Asn	608830.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	22	COG1028	186928839,NP_689656
145226	116242750	Disease	p.Ile51Asn	608830.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	29	COG4221	186928839,NP_689656
145226	116242750	Disease	p.Ile51Asn	608830.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	18	COG0300	186928839,NP_689656
145226	116242750	Disease	p.Ile51Asn	608830.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	12	pfam00106	186928839,NP_689656
145226	116242750	Disease	p.Ile51Asn	608830.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	15	pfam08659	186928839,NP_689656
145226	116242750	Disease	p.Thr155Ile	608830.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	120	COG3967	186928839,NP_689656
145226	116242750	Disease	p.Thr155Ile	608830.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	294	COG1028	186928839,NP_689656
145226	116242750	Disease	p.Thr155Ile	608830.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	139	COG4221	186928839,NP_689656
145226	116242750	Disease	p.Thr155Ile	608830.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	128	COG0300	186928839,NP_689656
145226	116242750	Disease	p.Thr155Ile	608830.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	167	pfam00106	186928839,NP_689656
145226	116242750	Disease	p.Thr155Ile	608830.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	LEBER CONGENITAL AMAUROSIS 13	OMIM	180	pfam08659	186928839,NP_689656
145226	116242750	Disease	p.Ala126Val	608830.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	RETINITIS PIGMENTOSA 53	OMIM	86	COG3967	186928839,NP_689656
145226	116242750	Disease	p.Ala126Val	608830.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	RETINITIS PIGMENTOSA 53	OMIM	199	COG1028	186928839,NP_689656
145226	116242750	Disease	p.Ala126Val	608830.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	RETINITIS PIGMENTOSA 53	OMIM	107	COG4221	186928839,NP_689656
145226	116242750	Disease	p.Ala126Val	608830.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	RETINITIS PIGMENTOSA 53	OMIM	95	COG0300	186928839,NP_689656
145226	116242750	Disease	p.Ala126Val	608830.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	RETINITIS PIGMENTOSA 53	OMIM	120	pfam00106	186928839,NP_689656
145226	116242750	Disease	p.Ala126Val	608830.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608830	RETINITIS PIGMENTOSA 53	OMIM	147	pfam08659	186928839,NP_689656
387082	50400081	Disease	p.Met55Val	608829.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608829	DIABETES MELLITUS, INSULIN-DEPENDENT, 5	OMIM	73	COG5227	NULL
387082	50400081	Disease	p.Met55Val	608829.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608829	DIABETES MELLITUS, INSULIN-DEPENDENT, 5	OMIM	42	pfam11976	NULL
387082	50400081	Disease	p.Met55Val	608829.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608829	DIABETES MELLITUS, INSULIN-DEPENDENT, 5	OMIM	55	smart00213	NULL
387082	50400081	Disease	p.Met55Val	608829.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608829	DIABETES MELLITUS, INSULIN-DEPENDENT, 5	OMIM	74	cd00196	NULL
387082	50400081	Disease	p.Met55Val	608829.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608829	DIABETES MELLITUS, INSULIN-DEPENDENT, 5	OMIM	44	pfam00240	NULL
387082	50400081	Disease	p.Met55Val	608829.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608829	DIABETES MELLITUS, INSULIN-DEPENDENT, 5	OMIM	50	cd01763	NULL
114327	74762202	Disease	p.Arg182His	608815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608815	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1	OMIM	180	smart00676	156616292,NP_060570
114327	289063386	Disease	p.Arg182His	608815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608815	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	NULL
114327	74762202	Disease	p.Phe229Leu	608815.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608815	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	156616292,NP_060570
114327	289063386	Disease	p.Phe229Leu	608815.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608815	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1	OMIM	10	smart00676	NULL
114327	74762202	Disease	p.Asp210Asn	608815.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608815	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	156616292,NP_060570
114327	289063386	Disease	p.Asp210Asn	608815.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608815	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	NULL
114327	74762202	Disease	p.Asp253Tyr	608815.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608815	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1	OMIM	15	smart00676	156616292,NP_060570
114327	289063386	Disease	p.Asp253Tyr	608815.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608815	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1	OMIM	10	pfam06565	NULL
114327	289063386	Disease	p.Asp253Tyr	608815.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608815	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1	OMIM	38	smart00676	NULL
114327	74762202	Disease	p.Pro77Thr	608815.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608815	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	156616292,NP_060570
114327	289063386	Disease	p.Pro77Thr	608815.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608815	MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1	OMIM	4	smart00676	NULL
114327	74762202	Disease	p.Ile174Val	608815.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608815	EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1	OMIM	172	smart00676	156616292,NP_060570
114327	289063386	Disease	p.Ile174Val	608815.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608815	EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1	OMIM	192	smart00676	NULL
114327	74762202	Disease	p.Cys259Tyr	608815.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608815	EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1	OMIM	25	smart00676	156616292,NP_060570
114327	289063386	Disease	p.Cys259Tyr	608815.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608815	EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1	OMIM	17	pfam06565	NULL
114327	289063386	Disease	p.Cys259Tyr	608815.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608815	EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1	OMIM	44	smart00676	NULL
57165	74744875	Disease	p.Met286Thr	608803.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608803	LEUKODYSTROPHY, HYPOMYELINATING, 2	OMIM	74	pfam10582	45439367,NP_065168
57165	74744875	Disease	p.Pro90Ser	608803.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608803	LEUKODYSTROPHY, HYPOMYELINATING, 2	OMIM	87	pfam00029	45439367,NP_065168
57165	74744875	Disease	p.Tyr272Asp	608803.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608803	LEUKODYSTROPHY, HYPOMYELINATING, 2	OMIM	57	pfam10582	45439367,NP_065168
57165	74744875	Disease	p.Ile33Met	608803.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608803	SPASTIC PARAPLEGIA 44	OMIM	30	pfam00029	45439367,NP_065168
57165	74744875	Disease	p.Ser48Leu	608803.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608803	LYMPHEDEMA, HEREDITARY, IC	OMIM	4	smart00037	45439367,NP_065168
57165	74744875	Disease	p.Ser48Leu	608803.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608803	LYMPHEDEMA, HEREDITARY, IC	OMIM	45	pfam00029	45439367,NP_065168
57165	74744875	Disease	p.Arg260Cys	608803.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608803	LYMPHEDEMA, HEREDITARY, IC	OMIM	45	pfam10582	45439367,NP_065168
2639	7669494	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	286	cd01153	NULL
2639	7669494	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	314	cd01154	NULL
2639	7669494	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	262	cd01151	NULL
2639	7669494	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	280	cd01161	NULL
2639	7669494	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	245	cd01156	NULL
2639	7669494	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	242	cd01157	NULL
2639	7669494	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	282	cd01155	NULL
2639	7669494	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	247	cd01162	NULL
2639	7669494	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	424	COG1960	NULL
2639	7669494	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	17	pfam00441	NULL
2639	7669494	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	242	cd01160	NULL
2639	7669494	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	243	cd01158	NULL
2639	7669494	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	324	cd00567	NULL
2639	7669494	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	254_G	cd01152	NULL
2639	2492631	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	286	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	314	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	262	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	280	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	245	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	242	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	247	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	282	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	424	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	17	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	324	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	242	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	243	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	608801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	254_G	cd01152	4503943,NP_000150
2639	7669494	Disease	p.Ala421Val	608801.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	379	cd01156	NULL
2639	7669494	Disease	p.Ala421Val	608801.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	371	cd01157	NULL
2639	7669494	Disease	p.Ala421Val	608801.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	381	cd01162	NULL
2639	7669494	Disease	p.Ala421Val	608801.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	677	COG1960	NULL
2639	7669494	Disease	p.Ala421Val	608801.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	174	pfam00441	NULL
2639	7669494	Disease	p.Ala421Val	608801.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	500	cd00567	NULL
2639	7669494	Disease	p.Ala421Val	608801.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	415	cd01152	NULL
2639	2492631	Disease	p.Ala421Val	608801.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	444	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	608801.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	452	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	608801.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	389	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	608801.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	425	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	608801.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	376	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	608801.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	368	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	608801.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	374	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	608801.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	674	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	608801.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	171	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	608801.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	497	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	608801.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	368	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	608801.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	371	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	608801.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	407	cd01152	4503943,NP_000150
2639	7669494	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	459	cd01154	NULL
2639	7669494	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	146	pfam08028	NULL
2639	7669494	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	375	cd01156	NULL
2639	7669494	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	366	cd01157	NULL
2639	7669494	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	373	cd01162	NULL
2639	7669494	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	672	COG1960	NULL
2639	7669494	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	168	pfam00441	NULL
2639	7669494	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	367	cd01160	NULL
2639	7669494	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	495	cd00567	NULL
2639	7669494	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	410	cd01152	NULL
2639	2492631	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	439	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	447	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	146	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	384	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	420	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	371	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	363	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	369	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	669	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	165	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	491	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	363	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	366	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	608801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	402	cd01152	4503943,NP_000150
2639	7669494	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	425	cd01153	NULL
2639	7669494	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	433	cd01154	NULL
2639	7669494	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	132	pfam08028	NULL
2639	7669494	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	370	cd01151	NULL
2639	7669494	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	434	cd01161	NULL
2639	7669494	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	360	cd01156	NULL
2639	7669494	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	349	cd01157	NULL
2639	7669494	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	416	cd01155	NULL
2639	7669494	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	361	cd01162	NULL
2639	7669494	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	640	COG1960	NULL
2639	7669494	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	150	pfam00441	NULL
2639	7669494	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	349	cd01160	NULL
2639	7669494	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	352	cd01158	NULL
2639	7669494	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	470	cd00567	NULL
2639	7669494	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	386	cd01152	NULL
2639	2492631	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	425	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	433	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	132	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	370	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	406	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	357	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	349	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	355	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	416	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	640	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	150	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	470	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	349	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	352	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	608801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	386	cd01152	4503943,NP_000150
2639	7669494	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	384	cd01153	NULL
2639	7669494	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	384	cd01154	NULL
2639	7669494	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	88	pfam08028	NULL
2639	7669494	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	333	cd01151	NULL
2639	7669494	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	359	cd01161	NULL
2639	7669494	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	326	cd01156	NULL
2639	7669494	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	312	cd01157	NULL
2639	7669494	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	374	cd01155	NULL
2639	7669494	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	318	cd01162	NULL
2639	7669494	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	553	COG1960	NULL
2639	7669494	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	102	pfam00441	NULL
2639	7669494	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	312	cd01160	NULL
2639	7669494	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	315	cd01158	NULL
2639	7669494	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	414	cd00567	NULL
2639	7669494	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	332	cd01152	NULL
2639	2492631	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	384	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	384	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	88	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	333	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	359	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	326	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	312	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	318	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	374	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	553	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	102	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	414	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	312	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	315	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	608801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	332	cd01152	4503943,NP_000150
2639	7669494	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	284	cd01153	NULL
2639	7669494	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	312	cd01154	NULL
2639	7669494	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	260	cd01151	NULL
2639	7669494	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	278	cd01161	NULL
2639	7669494	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	243	cd01156	NULL
2639	7669494	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	240	cd01157	NULL
2639	7669494	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	280	cd01155	NULL
2639	7669494	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	245	cd01162	NULL
2639	7669494	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	422	COG1960	NULL
2639	7669494	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	15	pfam00441	NULL
2639	7669494	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	240	cd01160	NULL
2639	7669494	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	241	cd01158	NULL
2639	7669494	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	322	cd00567	NULL
2639	7669494	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	253	cd01152	NULL
2639	2492631	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	284	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	312	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	260	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	278	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	243	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	240	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	245	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	280	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	422	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	15	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	322	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	240	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	241	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	608801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	253	cd01152	4503943,NP_000150
2639	7669494	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	423	cd01153	NULL
2639	7669494	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	431	cd01154	NULL
2639	7669494	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	130	pfam08028	NULL
2639	7669494	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	368	cd01151	NULL
2639	7669494	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	404	cd01161	NULL
2639	7669494	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	358	cd01156	NULL
2639	7669494	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	347	cd01157	NULL
2639	7669494	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	414	cd01155	NULL
2639	7669494	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	353	cd01162	NULL
2639	7669494	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	638	COG1960	NULL
2639	7669494	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	148	pfam00441	NULL
2639	7669494	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	347	cd01160	NULL
2639	7669494	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	350	cd01158	NULL
2639	7669494	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	468	cd00567	NULL
2639	7669494	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	384	cd01152	NULL
2639	2492631	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	423	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	431	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	130	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	368	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	404	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	355	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	347	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	353	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	414	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	638	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	148	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	468	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	347	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	350	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	608801.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	384	cd01152	4503943,NP_000150
2639	7669494	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	183	cd01153	NULL
2639	7669494	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	225	cd01154	NULL
2639	7669494	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	78	pfam02770	NULL
2639	7669494	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	184	cd01151	NULL
2639	7669494	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	202	cd01161	NULL
2639	7669494	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	170	cd01156	NULL
2639	7669494	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	166	cd01157	NULL
2639	7669494	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	209	cd01155	NULL
2639	7669494	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	170	cd01162	NULL
2639	7669494	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	306	COG1960	NULL
2639	7669494	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	167	cd01160	NULL
2639	7669494	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	169	cd01158	NULL
2639	7669494	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	216	cd00567	NULL
2639	7669494	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	180	cd01152	NULL
2639	2492631	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	183	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	225	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	78	pfam02770	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	184	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	202	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	170	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	166	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	170	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	209	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	306	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	216	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	167	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	169	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	608801.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608801	GLUTARIC ACIDEMIA I	OMIM	180	cd01152	4503943,NP_000150
5624	131067	Disease	p.Ala610Thr	608786.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608786	PYRUVATE CARBOXYLASE DEFICIENCY	OMIM	No Domain	N/A	4506115,NP_000303
5624	131067	Disease	p.Met743Ile	608786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608786	PYRUVATE CARBOXYLASE DEFICIENCY	OMIM	No Domain	N/A	4506115,NP_000303
5624	131067	Disease	p.Val145Ala	608786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608786	PYRUVATE CARBOXYLASE DEFICIENCY	OMIM	15	smart00181	4506115,NP_000303
5624	131067	Disease	p.Arg451Cys	608786.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608786	PYRUVATE CARBOXYLASE DEFICIENCY	OMIM	No Domain	N/A	4506115,NP_000303
5624	131067	Disease	p.Arg156Gln	608786.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608786	PYRUVATE CARBOXYLASE DEFICIENCY	OMIM	46	smart00181	4506115,NP_000303
5624	131067	Disease	p.Arg583Leu	608786.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608786	PYRUVATE CARBOXYLASE DEFICIENCY	OMIM	No Domain	N/A	4506115,NP_000303
404672	67462047	Disease	p.Leu21Pro	608780.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608780	TRICHOTHIODYSTROPHY, COMPLEMENTATION GROUP A	OMIM	21	pfam06331	46359855,NP_997001
255239	74762569	Disease	p.Glu713Lys	608774.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608774	DOPAMINE RECEPTOR D2, REDUCED BRAIN DENSITY OF	OMIM	303	cd00204	30425444,NP_848605
255239	74762569	Disease	p.Glu713Lys	608774.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608774	DOPAMINE RECEPTOR D2, REDUCED BRAIN DENSITY OF	OMIM	442	COG0666	30425444,NP_848605
255239	74762569	Disease	p.Glu713Lys	608774.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608774	DOPAMINE RECEPTOR D2, REDUCED BRAIN DENSITY OF	OMIM	45	pfam00023	30425444,NP_848605
255239	74762569	Disease	p.Glu713Lys	608774.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608774	DOPAMINE RECEPTOR D2, REDUCED BRAIN DENSITY OF	OMIM	41	smart00248	30425444,NP_848605
23389	74749769	Disease	p.Glu251Gly	608771.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608771	TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1	OMIM	523	pfam11597	44771211,NP_056150
23389	74749769	Disease	p.Arg1872His	608771.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608771	TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1	OMIM	246	pfam06333	44771211,NP_056150
23389	74749769	Disease	p.Asp2023Gly	608771.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608771	TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1	OMIM	495	pfam06333	44771211,NP_056150
1737	215274207	Disease	p.Phe576Leu	608770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608770	PYRUVATE DEHYDROGENASE E2 DEFICIENCY	OMIM	602	COG0508	31711992,NP_001922
1737	215274207	Disease	p.Phe576Leu	608770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608770	PYRUVATE DEHYDROGENASE E2 DEFICIENCY	OMIM	228	pfam00198	31711992,NP_001922
283989	296452961	Disease	p.Ala307Ser	608755.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608755	PONTOCEREBELLAR HYPOPLASIA TYPE 2A||PONTOCEREBELLAR HYPOPLASIA TYPE 4	OMIM	No Domain	N/A	108389176,NP_997229
283989	296452961	Disease	p.Ala307Ser	608755.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608755	PONTOCEREBELLAR HYPOPLASIA TYPE 4	OMIM	No Domain	N/A	108389176,NP_997229
79042	50401668	Disease	p.Arg58Trp	608754.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608754	PONTOCEREBELLAR HYPOPLASIA TYPE 2C	OMIM	No Domain	N/A	116875842,NP_001070914|116875840,NP_076980
79042	50401668	Disease	p.Arg58Trp	608754.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608754	PONTOCEREBELLAR HYPOPLASIA TYPE 2C	OMIM	No Domain	N/A	116875842,NP_001070914|116875840,NP_076980
80746	50428914	Disease	p.Tyr309Cys	608753.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608753	PONTOCEREBELLAR HYPOPLASIA TYPE 2B	OMIM	137	COG1676	13376882,NP_079541|223972632,NP_001138864
80746	50428914	Disease	p.Tyr309Cys	608753.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608753	PONTOCEREBELLAR HYPOPLASIA TYPE 2B	OMIM	80	pfam02778	13376882,NP_079541|223972632,NP_001138864
80746	223972636	Disease	p.Tyr309Cys	608753.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608753	PONTOCEREBELLAR HYPOPLASIA TYPE 2B	OMIM	38	pfam01974	NULL
80746	223972636	Disease	p.Tyr309Cys	608753.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608753	PONTOCEREBELLAR HYPOPLASIA TYPE 2B	OMIM	224	COG1676	NULL
80746	50428914	Disease	p.Tyr309Cys	608753.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608753	PONTOCEREBELLAR HYPOPLASIA TYPE 2B	OMIM	137	COG1676	13376882,NP_079541|223972632,NP_001138864
80746	50428914	Disease	p.Tyr309Cys	608753.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608753	PONTOCEREBELLAR HYPOPLASIA TYPE 2B	OMIM	80	pfam02778	13376882,NP_079541|223972632,NP_001138864
80746	223972638	Disease	p.Tyr309Cys	608753.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608753	PONTOCEREBELLAR HYPOPLASIA TYPE 2B	OMIM	No Domain	N/A	NULL
80746	223972634	Disease	p.Tyr309Cys	608753.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608753	PONTOCEREBELLAR HYPOPLASIA TYPE 2B	OMIM	163	COG1676	NULL
114902	20177861	Disease	p.Ser163Arg	608752.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608752	RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT	OMIM	73	smart00110	14149712,NP_056460
114902	20177861	Disease	p.Ser163Arg	608752.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608752	RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT	OMIM	72	pfam00386	14149712,NP_056460
10195	3024226	Disease	p.Gly118Asp	608750.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608750	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id	OMIM	75	pfam05208	5031953,NP_005778
10195	55743086	Disease	p.Gly118Asp	608750.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608750	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id	OMIM	123	pfam05208	NULL
10195	3024226	Disease	p.Arg171Gln	608750.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608750	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id	OMIM	128	pfam05208	5031953,NP_005778
10195	55743086	Disease	p.Arg171Gln	608750.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608750	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id	OMIM	189	pfam05208	NULL
10195	3024226	Disease	p.Trp71Arg	608750.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608750	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id	OMIM	27	pfam05208	5031953,NP_005778
10195	55743086	Disease	p.Trp71Arg	608750.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608750	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id	OMIM	76	pfam05208	NULL
10195	3024226	Disease	p.Met157Lys	608750.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608750	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id	OMIM	114	pfam05208	5031953,NP_005778
10195	55743086	Disease	p.Met157Lys	608750.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608750	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id	OMIM	174	pfam05208	NULL
91252	190014617	Disease	p.Gly74Asp	608735.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608735	SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE	OMIM	5	COG0428	NULL
91252	190014617	Disease	p.Gly74Asp	608735.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608735	SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE	OMIM	11	pfam02535	NULL
91252	40255101	Disease	p.Gly74Asp	608735.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608735	SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE	OMIM	5	COG0428	NULL
91252	40255101	Disease	p.Gly74Asp	608735.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608735	SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE	OMIM	11	pfam02535	NULL
120227	62286619	Disease	p.Leu99Pro	608713.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608713	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B	OMIM	67	pfam00067	45267826,NP_078790
120227	62286619	Disease	p.Leu99Pro	608713.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608713	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B	OMIM	81	COG2124	45267826,NP_078790
25836	47578107	Disease	p.Met1Lys	608667.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608667	CORNELIA DE LANGE SYNDROME 1	OMIM	No Domain	N/A	NULL
25836	50400865	Disease	p.Met1Lys	608667.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608667	CORNELIA DE LANGE SYNDROME 1	OMIM	No Domain	N/A	47578105,NP_597677
25836	47578107	Disease	p.Tyr2430Cys	608667.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608667	CORNELIA DE LANGE SYNDROME 1	OMIM	No Domain	N/A	NULL
25836	50400865	Disease	p.Tyr2430Cys	608667.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608667	CORNELIA DE LANGE SYNDROME 1	OMIM	No Domain	N/A	47578105,NP_597677
25836	47578107	Disease	p.Ala1246Gly	608667.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608667	CORNELIA DE LANGE SYNDROME 1	OMIM	No Domain	N/A	NULL
25836	50400865	Disease	p.Ala1246Gly	608667.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608667	CORNELIA DE LANGE SYNDROME 1	OMIM	No Domain	N/A	47578105,NP_597677
55670	47606028	Disease	p.Arg98Trp	608666.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608666	NEONATAL ADRENOLEUKODYSTROPHY||REFSUM DISEASE, INFANTILE FORM	OMIM	99	pfam07163	189083737,NP_001121121|8923625,NP_060399
55670	47606028	Disease	p.Arg98Trp	608666.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608666	NEONATAL ADRENOLEUKODYSTROPHY||REFSUM DISEASE, INFANTILE FORM	OMIM	99	pfam07163	189083737,NP_001121121|8923625,NP_060399
55670	47606028	Disease	p.Gly89Arg	608666.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608666	ZELLWEGER SYNDROME	OMIM	90	pfam07163	189083737,NP_001121121|8923625,NP_060399
55670	47606028	Disease	p.Gly89Arg	608666.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608666	ZELLWEGER SYNDROME	OMIM	90	pfam07163	189083737,NP_001121121|8923625,NP_060399
55670	47606028	Disease	p.Met1Thr	608666.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608666	REFSUM DISEASE, INFANTILE FORM	OMIM	No Domain	N/A	189083737,NP_001121121|8923625,NP_060399
55670	47606028	Disease	p.Met1Thr	608666.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608666	REFSUM DISEASE, INFANTILE FORM	OMIM	No Domain	N/A	189083737,NP_001121121|8923625,NP_060399
55670	47606028	Disease	p.Leu45Pro	608666.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608666	REFSUM DISEASE, INFANTILE FORM	OMIM	45	pfam07163	189083737,NP_001121121|8923625,NP_060399
55670	47606028	Disease	p.Leu45Pro	608666.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608666	REFSUM DISEASE, INFANTILE FORM	OMIM	45	pfam07163	189083737,NP_001121121|8923625,NP_060399
203859	74749827	Disease	p.Cys356Arg	608662.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608662	GNATHODIAPHYSEAL DYSPLASIA	OMIM	214	pfam04547	47106048,NP_998764
203859	218081589	Disease	p.Cys356Arg	608662.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608662	GNATHODIAPHYSEAL DYSPLASIA	OMIM	215	pfam04547	NULL
203859	74749827	Disease	p.Cys356Gly	608662.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608662	GNATHODIAPHYSEAL DYSPLASIA	OMIM	214	pfam04547	47106048,NP_998764
203859	218081589	Disease	p.Cys356Gly	608662.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608662	GNATHODIAPHYSEAL DYSPLASIA	OMIM	215	pfam04547	NULL
203859	74749827	Disease	p.Gly231Val	608662.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608662	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L	OMIM	No Domain	N/A	47106048,NP_998764
203859	218081589	Disease	p.Gly231Val	608662.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608662	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L	OMIM	No Domain	N/A	NULL
203859	74749827	Disease	p.Arg758Cys	608662.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608662	MIYOSHI MUSCULAR DYSTROPHY 3	OMIM	1250	pfam04547	47106048,NP_998764
203859	218081589	Disease	p.Arg758Cys	608662.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608662	MIYOSHI MUSCULAR DYSTROPHY 3	OMIM	1251	pfam04547	NULL
64221	49036492	Disease	p.Gly361Glu	608630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	16	cd04968	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	608630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	11	smart00409	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	608630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	11	smart00410	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	608630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	9	cd05729	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	608630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	11	cd05724	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	608630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	14	cd05728	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	608630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	14	cd05722	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	608630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	16	cd05732	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	608630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	16	pfam07679	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	608630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	2	smart00408	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	608630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	2	cd05745	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	608630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	9	cd05856	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	608630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	7	pfam07686	48476182,NP_071765
64221	49036492	Disease	p.Arg703Pro	608630.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	40	pfam00041	48476182,NP_071765
64221	49036492	Disease	p.Arg703Pro	608630.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	63	cd00063	48476182,NP_071765
64221	49036492	Disease	p.Arg703Pro	608630.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	63	smart00060	48476182,NP_071765
64221	49036492	Disease	p.Ser705Pro	608630.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	42	pfam00041	48476182,NP_071765
64221	49036492	Disease	p.Ser705Pro	608630.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	65	cd00063	48476182,NP_071765
64221	49036492	Disease	p.Ser705Pro	608630.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	65	smart00060	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	80	cd05748	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	50	cd05764	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	50	cd05723	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	187	smart00409	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	187	smart00410	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	82	pfam00047	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	49	cd05852	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	63	cd04969	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	67	cd05722	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	61	cd05728	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	90	cd05894	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	75	cd05732	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	113	smart00408	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	50	cd05745	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	105	pfam07686	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	61	cd05729	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	61	cd05857	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	58	cd05856	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	69	cd05724	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	88	cd05734	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	50	cd05763	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	46	cd05876	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	46	cd05746	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	118	cd00096	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	49	cd05736	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	46	cd05731	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	48	cd05725	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	63	cd05851	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	69	cd05747	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	57	cd05750	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	64	cd04968	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	71	cd05730	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	608630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	88	pfam07679	48476182,NP_071765
64221	49036492	Disease	p.Leu5Pro	608630.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	No Domain	N/A	48476182,NP_071765
64221	49036492	Disease	p.Ile66Leu	608630.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	4	cd07693	48476182,NP_071765
64221	49036492	Disease	p.Ile66Leu	608630.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	2	cd05722	48476182,NP_071765
64221	49036492	Disease	p.Ile66Leu	608630.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	4	cd04967	48476182,NP_071765
64221	49036492	Disease	p.Ile66Leu	608630.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	4	cd05848	48476182,NP_071765
64221	49036492	Disease	p.Ile66Leu	608630.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	3	pfam07679	48476182,NP_071765
64221	49036492	Disease	p.Arg245Trp	608630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	85	cd05724	48476182,NP_071765
64221	49036492	Disease	p.Arg245Trp	608630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	97	cd04979	48476182,NP_071765
64221	49036492	Disease	p.Arg245Trp	608630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	105	pfam07679	48476182,NP_071765
64221	49036492	Disease	p.Arg245Trp	608630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	66	cd05764	48476182,NP_071765
64221	49036492	Disease	p.Arg245Trp	608630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	79	cd04969	48476182,NP_071765
64221	49036492	Disease	p.Arg245Trp	608630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	70	cd04978	48476182,NP_071765
64221	49036492	Disease	p.Arg245Trp	608630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	85	cd04967	48476182,NP_071765
64221	49036492	Disease	p.Arg245Trp	608630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	90	cd07693	48476182,NP_071765
64221	49036492	Disease	p.Arg245Trp	608630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	231	smart00409	48476182,NP_071765
64221	49036492	Disease	p.Arg245Trp	608630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	231	smart00410	48476182,NP_071765
64221	49036492	Disease	p.Arg245Trp	608630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	76_G	cd05728	48476182,NP_071765
64221	49036492	Disease	p.Arg245Trp	608630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	88	cd05722	48476182,NP_071765
64221	49036492	Disease	p.Arg245Trp	608630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	87	cd05730	48476182,NP_071765
64221	49036492	Disease	p.Arg245Trp	608630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	77	cd05729	48476182,NP_071765
64221	49036492	Disease	p.Arg245Trp	608630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	74	cd05856	48476182,NP_071765
64221	49036492	Disease	p.Arg245Trp	608630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	64	cd05725	48476182,NP_071765
64221	49036492	Disease	p.Arg245Trp	608630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	166	cd00096	48476182,NP_071765
64221	49036492	Disease	p.Arg245Trp	608630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	66	cd05763	48476182,NP_071765
64221	49036492	Disease	p.Arg245Trp	608630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608630	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS	OMIM	65	cd05738	48476182,NP_071765
285440	296434466	Disease	p.Trp44Arg	608614.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608614	BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY	OMIM	No Domain	N/A	187960086,NP_997235
285440	296434466	Disease	p.Ile111Thr	608614.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608614	BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY	OMIM	80	COG2124	187960086,NP_997235
285440	296434466	Disease	p.Ile111Thr	608614.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608614	BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY	OMIM	66	pfam00067	187960086,NP_997235
285440	296434466	Disease	p.Arg508His	608614.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608614	BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY	OMIM	555	COG2124	187960086,NP_997235
285440	296434466	Disease	p.Arg508His	608614.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608614	BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY	OMIM	550	pfam00067	187960086,NP_997235
285440	296434466	Disease	p.Gly61Ser	608614.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608614	BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY	OMIM	17	COG2124	187960086,NP_997235
285440	296434466	Disease	p.Gly61Ser	608614.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608614	BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY	OMIM	12	pfam00067	187960086,NP_997235
387129	46391085	Disease	p.Asn107Ile	608595.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608595	ASTHMA SUSCEPTIBILITY 2	OMIM	41	pfam00001	NULL
387129	74758626	Disease	p.Asn107Ile	608595.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608595	ASTHMA SUSCEPTIBILITY 2	OMIM	41	pfam00001	46395496,NP_997055
94137	117414137	Disease	p.Arg45Trp	608581.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608581	OCCULT MACULAR DYSTROPHY	OMIM	12	cd01617	NULL
94137	117414137	Disease	p.Arg45Trp	608581.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608581	OCCULT MACULAR DYSTROPHY	OMIM	17	smart00537	NULL
94137	117414137	Disease	p.Trp960Arg	608581.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608581	OCCULT MACULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
57644	114842389	Disease	p.Leu976Phe	608568.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	977	COG5022	NULL
57644	114842389	Disease	p.Arg726Ser	608568.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	783	cd01378	NULL
57644	114842389	Disease	p.Arg726Ser	608568.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	582	cd01381	NULL
57644	114842389	Disease	p.Arg726Ser	608568.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	684	cd01382	NULL
57644	114842389	Disease	p.Arg726Ser	608568.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	847	pfam00063	NULL
57644	114842389	Disease	p.Arg726Ser	608568.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	922	cd01379	NULL
57644	114842389	Disease	p.Arg726Ser	608568.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	1011	cd00124	NULL
57644	114842389	Disease	p.Arg726Ser	608568.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	704	cd01386	NULL
57644	114842389	Disease	p.Arg726Ser	608568.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	721	COG5022	NULL
57644	114842389	Disease	p.Arg726Ser	608568.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	733	cd01385	NULL
57644	114842389	Disease	p.Arg726Ser	608568.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	669	cd01380	NULL
57644	114842389	Disease	p.Arg726Ser	608568.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	669	cd01384	NULL
57644	114842389	Disease	p.Arg726Ser	608568.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	709	cd01377	NULL
57644	114842389	Disease	p.Arg726Ser	608568.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	1350	smart00242	NULL
57644	114842389	Disease	p.Arg726Ser	608568.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	584	cd01383	NULL
57644	114842389	Disease	p.Arg726Ser	608568.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	590	cd01387	NULL
57644	114842389	Disease	p.Gly376Cys	608568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	387	cd01378	NULL
57644	114842389	Disease	p.Gly376Cys	608568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	237	cd01381	NULL
57644	114842389	Disease	p.Gly376Cys	608568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	258	cd01382	NULL
57644	114842389	Disease	p.Gly376Cys	608568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	354	pfam00063	NULL
57644	114842389	Disease	p.Gly376Cys	608568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	243	cd01379	NULL
57644	114842389	Disease	p.Gly376Cys	608568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	385	cd00124	NULL
57644	114842389	Disease	p.Gly376Cys	608568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	246	cd01386	NULL
57644	114842389	Disease	p.Gly376Cys	608568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	353	COG5022	NULL
57644	114842389	Disease	p.Gly376Cys	608568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	247	cd01385	NULL
57644	114842389	Disease	p.Gly376Cys	608568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	284	cd01380	NULL
57644	114842389	Disease	p.Gly376Cys	608568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	272	cd01384	NULL
57644	114842389	Disease	p.Gly376Cys	608568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	307	cd01377	NULL
57644	114842389	Disease	p.Gly376Cys	608568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	485	smart00242	NULL
57644	114842389	Disease	p.Gly376Cys	608568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	242	cd01383	NULL
57644	114842389	Disease	p.Gly376Cys	608568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	316	cd01363	NULL
57644	114842389	Disease	p.Gly376Cys	608568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	243	cd01387	NULL
57644	114842389	Disease	p.Ser120Leu	608568.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	82	COG5022	NULL
57644	114842389	Disease	p.Ser120Leu	608568.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608568	DEAFNESS, AUTOSOMAL DOMINANT 4	OMIM	2	cd01383	NULL
26276	119829191	Disease	p.Leu30Pro	608552.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608552	ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1	OMIM	18	COG5158	NULL
83872	85542049	Disease	p.Gln5345Arg	608548.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608548	MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO	OMIM	65	cd00053	118572606,NP_114141
83872	85542049	Disease	p.Gln5345Arg	608548.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608548	MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO	OMIM	66	smart00181	118572606,NP_114141
83872	85542049	Disease	p.Gln5345Arg	608548.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608548	MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO	OMIM	42	pfam07645	118572606,NP_114141
83872	85542049	Disease	p.Gln5345Arg	608548.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608548	MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO	OMIM	69	cd00054	118572606,NP_114141
83872	85542049	Disease	p.Gln5345Arg	608548.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608548	MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO	OMIM	62	smart00179	118572606,NP_114141
83872	85542049	Disease	p.Gln5345Arg	608548.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608548	MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO	OMIM	41	pfam00008	118572606,NP_114141
79001	62511226	Disease	p.Arg98Trp	608547.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2	OMIM	115	pfam07884	13124770,NP_076869
79001	62511226	Disease	p.Arg98Trp	608547.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2	OMIM	107	COG4243	13124770,NP_076869
79001	62511226	Disease	p.Arg98Trp	608547.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2	OMIM	141	smart00756	13124770,NP_076869
79001	45827739	Disease	p.Arg98Trp	608547.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2	OMIM	No Domain	N/A	NULL
79001	62511226	Disease	p.Val29Leu	608547.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	WARFARIN RESISTANCE	OMIM	22	pfam07884	13124770,NP_076869
79001	62511226	Disease	p.Val29Leu	608547.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	WARFARIN RESISTANCE	OMIM	44	COG4243	13124770,NP_076869
79001	62511226	Disease	p.Val29Leu	608547.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	WARFARIN RESISTANCE	OMIM	25	smart00756	13124770,NP_076869
79001	45827739	Disease	p.Val29Leu	608547.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	WARFARIN RESISTANCE	OMIM	No Domain	N/A	NULL
79001	62511226	Disease	p.Val45Ala	608547.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	WARFARIN RESISTANCE	OMIM	39	pfam07884	13124770,NP_076869
79001	62511226	Disease	p.Val45Ala	608547.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	WARFARIN RESISTANCE	OMIM	65	COG4243	13124770,NP_076869
79001	62511226	Disease	p.Val45Ala	608547.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	WARFARIN RESISTANCE	OMIM	45	smart00756	13124770,NP_076869
79001	45827739	Disease	p.Val45Ala	608547.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	WARFARIN RESISTANCE	OMIM	No Domain	N/A	NULL
79001	62511226	Disease	p.Arg58Gly	608547.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	WARFARIN RESISTANCE	OMIM	57	pfam07884	13124770,NP_076869
79001	62511226	Disease	p.Arg58Gly	608547.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	WARFARIN RESISTANCE	OMIM	79	COG4243	13124770,NP_076869
79001	62511226	Disease	p.Arg58Gly	608547.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	WARFARIN RESISTANCE	OMIM	64	smart00756	13124770,NP_076869
79001	45827739	Disease	p.Arg58Gly	608547.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	WARFARIN RESISTANCE	OMIM	No Domain	N/A	NULL
79001	62511226	Disease	p.Leu128Arg	608547.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	WARFARIN RESISTANCE	OMIM	148	pfam07884	13124770,NP_076869
79001	62511226	Disease	p.Leu128Arg	608547.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	WARFARIN RESISTANCE	OMIM	152	COG4243	13124770,NP_076869
79001	62511226	Disease	p.Leu128Arg	608547.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	WARFARIN RESISTANCE	OMIM	186	smart00756	13124770,NP_076869
79001	45827739	Disease	p.Leu128Arg	608547.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	WARFARIN RESISTANCE	OMIM	No Domain	N/A	NULL
79001	62511226	Disease	p.Asp36Tyr	608547.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	WARFARIN RESISTANCE	OMIM	29	pfam07884	13124770,NP_076869
79001	62511226	Disease	p.Asp36Tyr	608547.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	WARFARIN RESISTANCE	OMIM	51	COG4243	13124770,NP_076869
79001	62511226	Disease	p.Asp36Tyr	608547.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	WARFARIN RESISTANCE	OMIM	32	smart00756	13124770,NP_076869
79001	45827739	Disease	p.Asp36Tyr	608547.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608547	WARFARIN RESISTANCE	OMIM	No Domain	N/A	NULL
79742	193804856	Disease	p.Tyr98His	608537.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	MOVED TO 608537.0003	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Tyr98His	608537.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	MOVED TO 608537.0003	OMIM	No Domain	N/A	193804854,NP_789789
79742	193804856	Disease	p.Tyr98His	608537.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	MOVED TO 608537.0003	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Tyr98His	608537.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	MOVED TO 608537.0003	OMIM	No Domain	N/A	193804854,NP_789789
7428	38045906	Disease	p.Arg200Trp	608537.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	POLYCYTHEMIA, CHUVASH TYPE	OMIM	No Domain	N/A	NULL
7428	4033778	Disease	p.Arg200Trp	608537.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	POLYCYTHEMIA, CHUVASH TYPE	OMIM	228	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Arg200Trp	608537.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	POLYCYTHEMIA, CHUVASH TYPE	OMIM	143	pfam01847	4507891,NP_000542
7428	38045906	Disease	p.Val130Leu	608537.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	ERYTHROCYTOSIS, FAMILIAL, 2	OMIM	147	cd05468	NULL
7428	38045906	Disease	p.Val130Leu	608537.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	ERYTHROCYTOSIS, FAMILIAL, 2	OMIM	114	pfam01847	NULL
7428	4033778	Disease	p.Val130Leu	608537.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	ERYTHROCYTOSIS, FAMILIAL, 2	OMIM	74	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Val130Leu	608537.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	ERYTHROCYTOSIS, FAMILIAL, 2	OMIM	73	pfam01847	4507891,NP_000542
7428	38045906	Disease	p.Asp126Tyr	608537.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	ERYTHROCYTOSIS, FAMILIAL, 2	OMIM	143	cd05468	NULL
7428	38045906	Disease	p.Asp126Tyr	608537.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	ERYTHROCYTOSIS, FAMILIAL, 2	OMIM	110	pfam01847	NULL
7428	4033778	Disease	p.Asp126Tyr	608537.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	ERYTHROCYTOSIS, FAMILIAL, 2	OMIM	70	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Asp126Tyr	608537.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	ERYTHROCYTOSIS, FAMILIAL, 2	OMIM	69	pfam01847	4507891,NP_000542
7428	38045906	Disease	p.Pro192Ser	608537.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	ERYTHROCYTOSIS, FAMILIAL, 2	OMIM	No Domain	N/A	NULL
7428	4033778	Disease	p.Pro192Ser	608537.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	ERYTHROCYTOSIS, FAMILIAL, 2	OMIM	205	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Pro192Ser	608537.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	ERYTHROCYTOSIS, FAMILIAL, 2	OMIM	135	pfam01847	4507891,NP_000542
7428	38045906	Disease	p.His191Asp	608537.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	ERYTHROCYTOSIS, FAMILIAL, 2	OMIM	No Domain	N/A	NULL
7428	4033778	Disease	p.His191Asp	608537.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	ERYTHROCYTOSIS, FAMILIAL, 2	OMIM	204	cd05468	4507891,NP_000542
7428	4033778	Disease	p.His191Asp	608537.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608537	ERYTHROCYTOSIS, FAMILIAL, 2	OMIM	134	pfam01847	4507891,NP_000542
4688	299829279	Disease	p.Lys160Glu	608515.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	No Domain	N/A	NULL
4688	299829294	Disease	p.Lys160Glu	608515.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	No Domain	N/A	NULL
4688	1346669	Disease	p.Lys160Glu	608515.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	No Domain	N/A	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Lys160Glu	608515.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	No Domain	N/A	189083742,NP_001121123|67189970,NP_000424
4688	299829279	Disease	p.Ala128Val	608515.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	No Domain	N/A	NULL
4688	299829294	Disease	p.Ala128Val	608515.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	169	cd00189	NULL
4688	1346669	Disease	p.Ala128Val	608515.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	156	cd00189	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Ala128Val	608515.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	156	cd00189	189083742,NP_001121123|67189970,NP_000424
4688	299829279	Disease	p.Arg77Gln	608515.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	7	pfam00515	NULL
4688	299829279	Disease	p.Arg77Gln	608515.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	7	pfam07719	NULL
4688	299829279	Disease	p.Arg77Gln	608515.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	8	smart00028	NULL
4688	299829279	Disease	p.Arg77Gln	608515.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	155	cd00189	NULL
4688	299829294	Disease	p.Arg77Gln	608515.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	7	pfam00515	NULL
4688	299829294	Disease	p.Arg77Gln	608515.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	7	pfam07719	NULL
4688	299829294	Disease	p.Arg77Gln	608515.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	8	smart00028	NULL
4688	299829294	Disease	p.Arg77Gln	608515.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	68	cd00189	NULL
4688	1346669	Disease	p.Arg77Gln	608515.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	7	pfam00515	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Arg77Gln	608515.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	7	pfam07719	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Arg77Gln	608515.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	8	smart00028	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Arg77Gln	608515.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	68	cd00189	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Arg77Gln	608515.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	7	pfam00515	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Arg77Gln	608515.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	7	pfam07719	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Arg77Gln	608515.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	8	smart00028	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Arg77Gln	608515.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	68	cd00189	189083742,NP_001121123|67189970,NP_000424
4688	299829279	Disease	p.Arg395Trp	608515.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	36	smart00326	NULL
4688	299829279	Disease	p.Arg395Trp	608515.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	16	pfam00018	NULL
4688	299829279	Disease	p.Arg395Trp	608515.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	36	pfam07653	NULL
4688	299829279	Disease	p.Arg395Trp	608515.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	29	cd00174	NULL
4688	299829294	Disease	p.Arg395Trp	608515.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	No Domain	N/A	NULL
4688	1346669	Disease	p.Arg395Trp	608515.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	46	cd06406	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Arg395Trp	608515.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	42	cd06411	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Arg395Trp	608515.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	83	cd05992	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Arg395Trp	608515.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	105	smart00666	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Arg395Trp	608515.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	62	pfam00564	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Arg395Trp	608515.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	46	cd06406	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Arg395Trp	608515.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	42	cd06411	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Arg395Trp	608515.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	83	cd05992	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Arg395Trp	608515.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	105	smart00666	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Arg395Trp	608515.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608515	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	OMIM	62	pfam00564	189083742,NP_001121123|67189970,NP_000424
653361	115298672	Disease	p.Arg42Gln	608512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608512	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I	OMIM	37	cd06887	NULL
653361	115298672	Disease	p.Arg42Gln	608512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608512	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I	OMIM	38	cd06884	NULL
653361	115298672	Disease	p.Arg42Gln	608512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608512	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I	OMIM	52	cd06888	NULL
653361	115298672	Disease	p.Arg42Gln	608512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608512	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I	OMIM	96	smart00312	NULL
653361	115298672	Disease	p.Arg42Gln	608512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608512	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I	OMIM	41	cd06889	NULL
653361	115298672	Disease	p.Arg42Gln	608512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608512	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I	OMIM	51	cd06890	NULL
653361	115298672	Disease	p.Arg42Gln	608512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608512	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I	OMIM	71	cd06093	NULL
653361	115298672	Disease	p.Arg42Gln	608512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608512	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I	OMIM	38	cd06883	NULL
653361	115298672	Disease	p.Arg42Gln	608512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608512	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I	OMIM	36	cd07289	NULL
653361	115298672	Disease	p.Arg42Gln	608512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608512	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I	OMIM	40	cd06882	NULL
653361	115298672	Disease	p.Arg42Gln	608512.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608512	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I	OMIM	58	pfam00787	NULL
653361	115298672	Disease	p.Gly192Ser	608512.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608512	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I	OMIM	99	pfam07653	NULL
653361	115298672	Disease	p.Gly192Ser	608512.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608512	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I	OMIM	73	cd00174	NULL
653361	115298672	Disease	p.Gly192Ser	608512.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608512	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I	OMIM	36	pfam00018	NULL
653361	115298672	Disease	p.Gly192Ser	608512.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608512	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I	OMIM	87	smart00326	NULL
1535	311033459	Disease	p.Arg90Gln	608508.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608508	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	OMIM	90	pfam05038	68509914,NP_000092
1535	311033459	Disease	p.Ser118Arg	608508.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608508	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	OMIM	118	pfam05038	68509914,NP_000092
1535	311033459	Disease	p.Pro156Gln	608508.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608508	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	OMIM	157	pfam05038	68509914,NP_000092
1535	311033459	Disease	p.His94Arg	608508.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608508	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	OMIM	94	pfam05038	68509914,NP_000092
1535	311033459	Disease	p.Gly24Arg	608508.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608508	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	OMIM	23	pfam05038	68509914,NP_000092
1535	311033459	Disease	p.Ala125Thr	608508.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608508	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	OMIM	125	pfam05038	68509914,NP_000092
9927	47605777	Disease	p.Arg94Gln	608507.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Arg94Gln	608507.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Trp740Ser	608507.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	155	pfam04799	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Trp740Ser	608507.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	155	pfam04799	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Leu76Pro	608507.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Leu76Pro	608507.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Arg280His	608507.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	349	cd00880	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Arg280His	608507.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	349	cd00880	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Pro251Ala	608507.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	301	pfam00350	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Pro251Ala	608507.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	301	cd00880	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Pro251Ala	608507.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	301	pfam00350	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Pro251Ala	608507.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	301	cd00880	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Val69Phe	608507.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Val69Phe	608507.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Lys357Asn	608507.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Lys357Asn	608507.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.His165Asp	608507.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	130	pfam00350	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.His165Asp	608507.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	66	cd00880	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.His165Asp	608507.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	130	pfam00350	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.His165Asp	608507.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	66	cd00880	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Arg94Trp	608507.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2||HEREDITARY MOTOR AND SENSORY NEUROPATHY VI	OMIM	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Arg94Trp	608507.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2||HEREDITARY MOTOR AND SENSORY NEUROPATHY VI	OMIM	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Gln276Arg	608507.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	HEREDITARY MOTOR AND SENSORY NEUROPATHY VI	OMIM	328	cd00880	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Gln276Arg	608507.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	HEREDITARY MOTOR AND SENSORY NEUROPATHY VI	OMIM	328	cd00880	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Arg364Trp	608507.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	HEREDITARY MOTOR AND SENSORY NEUROPATHY VI	OMIM	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Arg364Trp	608507.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	HEREDITARY MOTOR AND SENSORY NEUROPATHY VI	OMIM	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Thr206Ile	608507.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	HEREDITARY MOTOR AND SENSORY NEUROPATHY VI	OMIM	233	pfam00350	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Thr206Ile	608507.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	HEREDITARY MOTOR AND SENSORY NEUROPATHY VI	OMIM	128	cd00880	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Thr206Ile	608507.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	HEREDITARY MOTOR AND SENSORY NEUROPATHY VI	OMIM	233	pfam00350	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Thr206Ile	608507.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	HEREDITARY MOTOR AND SENSORY NEUROPATHY VI	OMIM	128	cd00880	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Arg707Trp	608507.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	122	pfam04799	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Arg707Trp	608507.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	122	pfam04799	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Arg104Trp	608507.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	HEREDITARY MOTOR AND SENSORY NEUROPATHY VI||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	6	pfam00350	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Arg104Trp	608507.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	HEREDITARY MOTOR AND SENSORY NEUROPATHY VI||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	4	cd00880	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Arg104Trp	608507.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	HEREDITARY MOTOR AND SENSORY NEUROPATHY VI||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	6	pfam00350	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Arg104Trp	608507.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	HEREDITARY MOTOR AND SENSORY NEUROPATHY VI||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	4	cd00880	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Arg468His	608507.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Arg468His	608507.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608507	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	OMIM	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
144165	59800163	Disease	p.Arg104Gln	608500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608500	EPILEPSY, PROGRESSIVE MYOCLONIC 1B; EPM1B	OMIM	95	pfam06297	222136684,NP_001138355|222136678,NP_694571|222136680,NP_001138353|222136682,NP_001138354
144165	59800163	Disease	p.Arg104Gln	608500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608500	EPILEPSY, PROGRESSIVE MYOCLONIC 1B; EPM1B	OMIM	95	pfam06297	222136684,NP_001138355|222136678,NP_694571|222136680,NP_001138353|222136682,NP_001138354
144165	59800163	Disease	p.Arg104Gln	608500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608500	EPILEPSY, PROGRESSIVE MYOCLONIC 1B; EPM1B	OMIM	95	pfam06297	222136684,NP_001138355|222136678,NP_694571|222136680,NP_001138353|222136682,NP_001138354
144165	59800163	Disease	p.Arg104Gln	608500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608500	EPILEPSY, PROGRESSIVE MYOCLONIC 1B; EPM1B	OMIM	95	pfam06297	222136684,NP_001138355|222136678,NP_694571|222136680,NP_001138353|222136682,NP_001138354
23064	296453021	Disease	p.Pro2213Leu	608465.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608465	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	OMIM	710	COG1112	113722133,NP_055861
23064	296453021	Disease	p.Arg332Trp	608465.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608465	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	OMIM	No Domain	N/A	113722133,NP_055861
23064	296453021	Disease	p.Leu389Ser	608465.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608465	AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE	OMIM	No Domain	N/A	113722133,NP_055861
23064	296453021	Disease	p.Thr3Ile	608465.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608465	AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE	OMIM	No Domain	N/A	113722133,NP_055861
23064	296453021	Disease	p.Arg2136His	608465.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608465	AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE	OMIM	616	COG1112	113722133,NP_055861
23064	296453021	Disease	p.Leu1976Arg	608465.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608465	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	OMIM	432	COG1112	113722133,NP_055861
23064	296453021	Disease	p.Asn603Asp	608465.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608465	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	OMIM	No Domain	N/A	113722133,NP_055861
23064	296453021	Disease	p.Met274Ile	608465.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608465	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	OMIM	No Domain	N/A	113722133,NP_055861
23064	296453021	Disease	p.Leu1977Phe	608465.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608465	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	OMIM	433	COG1112	113722133,NP_055861
5837	3041717	Disease	p.Gly205Ser	608455.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	94	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Gly205Ser	608455.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	143	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Gly205Ser	608455.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	206	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Gly205Ser	608455.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	196	cd04300	5032009,NP_005600
5837	257900462	Disease	p.Gly205Ser	608455.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	189	pfam00343	NULL
5837	257900462	Disease	p.Gly205Ser	608455.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	237	cd01635	NULL
5837	257900462	Disease	p.Gly205Ser	608455.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	306	COG0058	NULL
5837	257900462	Disease	p.Gly205Ser	608455.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	305	cd04300	NULL
5837	3041717	Disease	p.Lys543Thr	608455.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	441	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Lys543Thr	608455.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	503	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Lys543Thr	608455.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	560	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Lys543Thr	608455.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	582	cd04300	5032009,NP_005600
5837	257900462	Disease	p.Lys543Thr	608455.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	532	pfam00343	NULL
5837	257900462	Disease	p.Lys543Thr	608455.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	672	cd01635	NULL
5837	257900462	Disease	p.Lys543Thr	608455.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	663	COG0058	NULL
5837	257900462	Disease	p.Lys543Thr	608455.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	691	cd04300	NULL
5837	3041717	Disease	p.Met1Gly	608455.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	No Domain	N/A	5032009,NP_005600
5837	257900462	Disease	p.Met1Gly	608455.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	No Domain	N/A	NULL
5837	3041717	Disease	p.Glu654Lys	608455.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	555	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Glu654Lys	608455.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	708	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Glu654Lys	608455.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	686	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Glu654Lys	608455.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	714	cd04300	5032009,NP_005600
5837	257900462	Disease	p.Glu654Lys	608455.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	644	pfam00343	NULL
5837	257900462	Disease	p.Glu654Lys	608455.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	779	COG0058	NULL
5837	257900462	Disease	p.Glu654Lys	608455.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	805	cd04300	NULL
5837	3041717	Disease	p.Leu396Pro	608455.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	292	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Leu396Pro	608455.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	345	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Leu396Pro	608455.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	402	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Leu396Pro	608455.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	408	cd04300	5032009,NP_005600
5837	257900462	Disease	p.Leu396Pro	608455.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	381	pfam00343	NULL
5837	257900462	Disease	p.Leu396Pro	608455.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	434	cd01635	NULL
5837	257900462	Disease	p.Leu396Pro	608455.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	493	COG0058	NULL
5837	257900462	Disease	p.Leu396Pro	608455.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	513	cd04300	NULL
5837	3041717	Disease	p.Gly685Arg	608455.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	586	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Gly685Arg	608455.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	758	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Gly685Arg	608455.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	717	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Gly685Arg	608455.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	745	cd04300	5032009,NP_005600
5837	257900462	Disease	p.Gly685Arg	608455.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	681	pfam00343	NULL
5837	257900462	Disease	p.Gly685Arg	608455.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	817	COG0058	NULL
5837	257900462	Disease	p.Gly685Arg	608455.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	845	cd04300	NULL
5837	3041717	Disease	p.Gln665Glu	608455.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	566	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Gln665Glu	608455.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	730	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Gln665Glu	608455.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	697	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Gln665Glu	608455.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	725	cd04300	5032009,NP_005600
5837	257900462	Disease	p.Gln665Glu	608455.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	655	pfam00343	NULL
5837	257900462	Disease	p.Gln665Glu	608455.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	790	COG0058	NULL
5837	257900462	Disease	p.Gln665Glu	608455.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	816	cd04300	NULL
5837	3041717	Disease	p.Met1Val	608455.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	No Domain	N/A	5032009,NP_005600
5837	257900462	Disease	p.Met1Val	608455.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	No Domain	N/A	NULL
5837	3041717	Disease	p.Trp797Arg	608455.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	705	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Trp797Arg	608455.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	857	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Trp797Arg	608455.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	870	cd04300	5032009,NP_005600
5837	257900462	Disease	p.Trp797Arg	608455.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	No Domain	N/A	NULL
5837	3041717	Disease	p.Lys608Lys	608455.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	509	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Lys608Lys	608455.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	583	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Lys608Lys	608455.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	640	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Lys608Lys	608455.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	668	cd04300	5032009,NP_005600
5837	257900462	Disease	p.Lys608Lys	608455.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	597	pfam00343	NULL
5837	257900462	Disease	p.Lys608Lys	608455.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	774	cd01635	NULL
5837	257900462	Disease	p.Lys608Lys	608455.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	728	COG0058	NULL
5837	257900462	Disease	p.Lys608Lys	608455.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608455	MCARDLE DISEASE	OMIM	756	cd04300	NULL
23474	73919341	Disease	p.Arg163Trp	608451.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608451	ENCEPHALOPATHY, ETHYLMALONIC	OMIM	300	COG0491	41327741,NP_055112
23474	73919341	Disease	p.Arg163Trp	608451.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608451	ENCEPHALOPATHY, ETHYLMALONIC	OMIM	719	smart00849	41327741,NP_055112
23474	73919341	Disease	p.Arg163Trp	608451.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608451	ENCEPHALOPATHY, ETHYLMALONIC	OMIM	243	pfam00753	41327741,NP_055112
23474	73919341	Disease	p.Met1Ile	608451.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608451	ENCEPHALOPATHY, ETHYLMALONIC	OMIM	No Domain	N/A	41327741,NP_055112
23224	33624861	Disease	p.Thr89Met	608442.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608442	EMERY-DREIFUSS MUSCULAR DYSTROPHY 5	OMIM	5	smart00150	NULL
23224	33624861	Disease	p.Thr89Met	608442.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608442	EMERY-DREIFUSS MUSCULAR DYSTROPHY 5	OMIM	7	cd00176	NULL
23224	33624861	Disease	p.Thr89Met	608442.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608442	EMERY-DREIFUSS MUSCULAR DYSTROPHY 5	OMIM	8	pfam00435	NULL
23224	116242809	Disease	p.Thr89Met	608442.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608442	EMERY-DREIFUSS MUSCULAR DYSTROPHY 5	OMIM	170	smart00033	118918403,NP_055995
23224	116242809	Disease	p.Thr89Met	608442.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608442	EMERY-DREIFUSS MUSCULAR DYSTROPHY 5	OMIM	87	cd00014	118918403,NP_055995
23224	116242809	Disease	p.Thr89Met	608442.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608442	EMERY-DREIFUSS MUSCULAR DYSTROPHY 5	OMIM	179	pfam00307	118918403,NP_055995
23224	116242809	Disease	p.Thr89Met	608442.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608442	EMERY-DREIFUSS MUSCULAR DYSTROPHY 5	OMIM	66	COG5069	118918403,NP_055995
23224	33624873	Disease	p.Thr89Met	608442.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608442	EMERY-DREIFUSS MUSCULAR DYSTROPHY 5	OMIM	No Domain	N/A	NULL
23224	118918407	Disease	p.Thr89Met	608442.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608442	EMERY-DREIFUSS MUSCULAR DYSTROPHY 5	OMIM	170	smart00033	NULL
23224	118918407	Disease	p.Thr89Met	608442.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608442	EMERY-DREIFUSS MUSCULAR DYSTROPHY 5	OMIM	87	cd00014	NULL
23224	118918407	Disease	p.Thr89Met	608442.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608442	EMERY-DREIFUSS MUSCULAR DYSTROPHY 5	OMIM	179	pfam00307	NULL
23224	118918407	Disease	p.Thr89Met	608442.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608442	EMERY-DREIFUSS MUSCULAR DYSTROPHY 5	OMIM	66	COG5069	NULL
23345	257051067	Disease	p.Arg257His	608441.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES	OMIM	204	smart00033	154277116,NP_892006
23345	257051067	Disease	p.Arg257His	608441.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES	OMIM	112	cd00014	154277116,NP_892006
23345	257051067	Disease	p.Arg257His	608441.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES	OMIM	216	pfam00307	154277116,NP_892006
23345	257051067	Disease	p.Arg257His	608441.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES	OMIM	233	COG5069	154277116,NP_892006
23345	154277120	Disease	p.Arg257His	608441.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES	OMIM	121	cd00176	NULL
23345	154277120	Disease	p.Arg257His	608441.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES	OMIM	342	smart00150	NULL
23345	154277118	Disease	p.Arg257His	608441.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES	OMIM	311	cd00176	NULL
23345	23097308	Disease	p.Arg257His	608441.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES	OMIM	103	cd00014	NULL
23345	23097308	Disease	p.Arg257His	608441.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES	OMIM	200	pfam00307	NULL
23345	23097308	Disease	p.Arg257His	608441.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES	OMIM	226	COG5069	NULL
23345	23097308	Disease	p.Arg257His	608441.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES	OMIM	191	smart00033	NULL
23345	257051067	Disease	p.Val572Leu	608441.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4	OMIM	599	COG5069	154277116,NP_892006
23345	154277120	Disease	p.Val572Leu	608441.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4	OMIM	No Domain	N/A	NULL
23345	154277118	Disease	p.Val572Leu	608441.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4	OMIM	319	smart00150	NULL
23345	23097308	Disease	p.Val572Leu	608441.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4	OMIM	592	COG5069	NULL
23345	257051067	Disease	p.Glu646Lys	608441.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES	OMIM	No Domain	N/A	154277116,NP_892006
23345	154277120	Disease	p.Glu646Lys	608441.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES	OMIM	23	pfam00435	NULL
23345	154277120	Disease	p.Glu646Lys	608441.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES	OMIM	21	cd00176	NULL
23345	154277120	Disease	p.Glu646Lys	608441.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES	OMIM	26	smart00150	NULL
23345	154277118	Disease	p.Glu646Lys	608441.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES	OMIM	No Domain	N/A	NULL
23345	23097308	Disease	p.Glu646Lys	608441.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608441	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES	OMIM	No Domain	N/A	NULL
113189	61211839	Disease	p.Arg213Pro	608429.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608429	ADDUCTED THUMB, CLUBFOOT, PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME	OMIM	174	pfam03567	18497304,NP_569735
113189	61211839	Disease	p.Arg135Gly	608429.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608429	ADDUCTED THUMB, CLUBFOOT, PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME	OMIM	No Domain	N/A	18497304,NP_569735
113189	61211839	Disease	p.Tyr293Cys	608429.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608429	ADDUCTED THUMB, CLUBFOOT, PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME	OMIM	394	pfam03567	18497304,NP_569735
113189	61211839	Disease	p.Pro281Leu	608429.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608429	ADDUCTED THUMB, CLUBFOOT, PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME	OMIM	360	pfam03567	18497304,NP_569735
113189	61211839	Disease	p.Cys289Ser	608429.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608429	ADDUCTED THUMB, CLUBFOOT, PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME	OMIM	385	pfam03567	18497304,NP_569735
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	445	pfam00388	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	96	cd08623	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	232	cd08558	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	94	cd08633	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	94	cd08629	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	96	cd08625	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	100	cd08591	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	94	cd08628	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	96	cd08624	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	94	cd08630	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	94	cd08595	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	226	cd08598	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	103	cd08599	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	94	cd08596	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	94	cd08631	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	103	cd00137	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	94	cd08632	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	97	cd08626	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	101	cd08592	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	96	cd08597	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	94	cd08593	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	94	cd08594	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	137	smart00148	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	94	cd08627	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	154	cd08555	117168250,NP_057425
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	71	smart00149	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	355	cd08627	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	294	cd08597	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	305	cd08593	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	373	cd08594	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	397	cd08592	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	873	cd08558	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	374	cd08633	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	498	cd08591	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	339	cd08599	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	481	cd08596	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	267	cd08631	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	482	cd08626	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	317	cd08623	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	265	cd08629	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	337	cd08625	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	680	cd08628	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	304	cd08624	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	284	cd08595	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	257	cd08630	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	490	cd08598	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	314	cd00137	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	363	cd08632	NULL
51196	260166694	Disease	p.Ser1484Leu	608414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608414	NEPHROTIC SYNDROME, TYPE 3	OMIM	98	pfam00387	NULL
7399	219842266	Disease	p.Cys319Tyr	608400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	USHER SYNDROME, TYPE IIA	OMIM	31	pfam00055	NULL
7399	219842266	Disease	p.Cys319Tyr	608400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	USHER SYNDROME, TYPE IIA	OMIM	48	smart00136	NULL
7399	219842259	Disease	p.Cys319Tyr	608400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	USHER SYNDROME, TYPE IIA	OMIM	48	smart00136	NULL
7399	219842259	Disease	p.Cys319Tyr	608400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	USHER SYNDROME, TYPE IIA	OMIM	31	pfam00055	NULL
7399	219842266	Disease	p.Cys759Phe	608400.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	RETINITIS PIGMENTOSA 39	OMIM	22	cd00055	NULL
7399	219842266	Disease	p.Cys759Phe	608400.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	RETINITIS PIGMENTOSA 39	OMIM	35	smart00180	NULL
7399	219842266	Disease	p.Cys759Phe	608400.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	RETINITIS PIGMENTOSA 39	OMIM	18	pfam00053	NULL
7399	219842259	Disease	p.Cys759Phe	608400.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	RETINITIS PIGMENTOSA 39	OMIM	35	smart00180	NULL
7399	219842259	Disease	p.Cys759Phe	608400.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	RETINITIS PIGMENTOSA 39	OMIM	18	pfam00053	NULL
7399	219842259	Disease	p.Cys759Phe	608400.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	RETINITIS PIGMENTOSA 39	OMIM	22	cd00055	NULL
7399	219842266	Disease	p.Arg317Arg	608400.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	USHER SYNDROME, TYPE IIA	OMIM	29	pfam00055	NULL
7399	219842266	Disease	p.Arg317Arg	608400.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	USHER SYNDROME, TYPE IIA	OMIM	46	smart00136	NULL
7399	219842259	Disease	p.Arg317Arg	608400.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	USHER SYNDROME, TYPE IIA	OMIM	46	smart00136	NULL
7399	219842259	Disease	p.Arg317Arg	608400.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	USHER SYNDROME, TYPE IIA	OMIM	29	pfam00055	NULL
7399	219842266	Disease	p.Cys419Phe	608400.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	USHER SYNDROME, TYPE IIA	OMIM	152	pfam00055	NULL
7399	219842266	Disease	p.Cys419Phe	608400.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	USHER SYNDROME, TYPE IIA	OMIM	215	smart00136	NULL
7399	219842259	Disease	p.Cys419Phe	608400.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	USHER SYNDROME, TYPE IIA	OMIM	215	smart00136	NULL
7399	219842259	Disease	p.Cys419Phe	608400.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	USHER SYNDROME, TYPE IIA	OMIM	152	pfam00055	NULL
7399	219842266	Disease	p.Arg4674Gly	608400.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	RETINITIS PIGMENTOSA 39	OMIM	43	pfam00041	NULL
7399	219842266	Disease	p.Arg4674Gly	608400.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	RETINITIS PIGMENTOSA 39	OMIM	70	smart00060	NULL
7399	219842266	Disease	p.Arg4674Gly	608400.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	RETINITIS PIGMENTOSA 39	OMIM	66	cd00063	NULL
7399	219842259	Disease	p.Arg4674Gly	608400.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608400	RETINITIS PIGMENTOSA 39	OMIM	No Domain	N/A	NULL
148738	51316254	Disease	p.Gly320Val	608374.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374	HEMOCHROMATOSIS, TYPE 2A||HEMOCHROMATOSIS, HEREDITARY	OMIM	98	pfam06534	47458048,NP_998818
148738	47458050	Disease	p.Gly320Val	608374.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374	HEMOCHROMATOSIS, TYPE 2A||HEMOCHROMATOSIS, HEREDITARY	OMIM	No Domain	N/A	NULL
148738	42544157	Disease	p.Gly320Val	608374.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374	HEMOCHROMATOSIS, TYPE 2A||HEMOCHROMATOSIS, HEREDITARY	OMIM	No Domain	N/A	NULL
148738	44662823	Disease	p.Gly320Val	608374.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374	HEMOCHROMATOSIS, TYPE 2A||HEMOCHROMATOSIS, HEREDITARY	OMIM	No Domain	N/A	NULL
148738	51316254	Disease	p.Ile222Asn	608374.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374	HEMOCHROMATOSIS, TYPE 2A	OMIM	234	pfam06535	47458048,NP_998818
148738	47458050	Disease	p.Ile222Asn	608374.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374	HEMOCHROMATOSIS, TYPE 2A	OMIM	No Domain	N/A	NULL
148738	42544157	Disease	p.Ile222Asn	608374.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374	HEMOCHROMATOSIS, TYPE 2A	OMIM	No Domain	N/A	NULL
148738	44662823	Disease	p.Ile222Asn	608374.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374	HEMOCHROMATOSIS, TYPE 2A	OMIM	113	pfam06534	NULL
148738	51316254	Disease	p.Ile281Thr	608374.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374	HEMOCHROMATOSIS, TYPE 2A	OMIM	57	pfam06534	47458048,NP_998818
148738	47458050	Disease	p.Ile281Thr	608374.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374	HEMOCHROMATOSIS, TYPE 2A	OMIM	No Domain	N/A	NULL
148738	42544157	Disease	p.Ile281Thr	608374.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374	HEMOCHROMATOSIS, TYPE 2A	OMIM	No Domain	N/A	NULL
148738	44662823	Disease	p.Ile281Thr	608374.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374	HEMOCHROMATOSIS, TYPE 2A	OMIM	199	pfam06534	NULL
148738	51316254	Disease	p.Cys80Arg	608374.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374	HEMOCHROMATOSIS, TYPE 2A	OMIM	76	pfam06535	47458048,NP_998818
148738	47458050	Disease	p.Cys80Arg	608374.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374	HEMOCHROMATOSIS, TYPE 2A	OMIM	82	pfam06534	NULL
148738	42544157	Disease	p.Cys80Arg	608374.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374	HEMOCHROMATOSIS, TYPE 2A	OMIM	82	pfam06534	NULL
148738	44662823	Disease	p.Cys80Arg	608374.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374	HEMOCHROMATOSIS, TYPE 2A	OMIM	205	pfam06535	NULL
148738	51316254	Disease	p.Leu101Pro	608374.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374	HEMOCHROMATOSIS, TYPE 2A	OMIM	97	pfam06535	47458048,NP_998818
148738	47458050	Disease	p.Leu101Pro	608374.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374	HEMOCHROMATOSIS, TYPE 2A	OMIM	105	pfam06534	NULL
148738	42544157	Disease	p.Leu101Pro	608374.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374	HEMOCHROMATOSIS, TYPE 2A	OMIM	105	pfam06534	NULL
148738	44662823	Disease	p.Leu101Pro	608374.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608374	HEMOCHROMATOSIS, TYPE 2A	OMIM	226	pfam06535	NULL
593	548403	Disease	p.Tyr393Asn	608348.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	319	pfam00676	11386135,NP_000700
593	548403	Disease	p.Tyr393Asn	608348.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	384	COG1071	11386135,NP_000700
593	548403	Disease	p.Tyr393Asn	608348.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	470	cd02000	11386135,NP_000700
593	258645172	Disease	p.Tyr393Asn	608348.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	320	pfam00676	NULL
593	258645172	Disease	p.Tyr393Asn	608348.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	389	COG1071	NULL
593	258645172	Disease	p.Tyr393Asn	608348.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	471	cd02000	NULL
593	548403	Disease	p.Gly245Arg	608348.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA	OMIM	177	cd02012	11386135,NP_000700
593	548403	Disease	p.Gly245Arg	608348.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA	OMIM	166	pfam00676	11386135,NP_000700
593	548403	Disease	p.Gly245Arg	608348.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA	OMIM	199	cd00568	11386135,NP_000700
593	548403	Disease	p.Gly245Arg	608348.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA	OMIM	216	COG1071	11386135,NP_000700
593	548403	Disease	p.Gly245Arg	608348.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA	OMIM	260	cd02000	11386135,NP_000700
593	258645172	Disease	p.Gly245Arg	608348.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA	OMIM	177	cd02012	NULL
593	258645172	Disease	p.Gly245Arg	608348.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA	OMIM	166	pfam00676	NULL
593	258645172	Disease	p.Gly245Arg	608348.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA	OMIM	199	cd00568	NULL
593	258645172	Disease	p.Gly245Arg	608348.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA	OMIM	216	COG1071	NULL
593	258645172	Disease	p.Gly245Arg	608348.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA	OMIM	260	cd02000	NULL
593	548403	Disease	p.Phe364Cys	608348.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA||MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	290	pfam00676	11386135,NP_000700
593	548403	Disease	p.Phe364Cys	608348.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA||MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	354	COG1071	11386135,NP_000700
593	548403	Disease	p.Phe364Cys	608348.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA||MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	434	cd02000	11386135,NP_000700
593	258645172	Disease	p.Phe364Cys	608348.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA||MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	291	pfam00676	NULL
593	258645172	Disease	p.Phe364Cys	608348.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA||MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	355	COG1071	NULL
593	258645172	Disease	p.Phe364Cys	608348.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA||MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	435	cd02000	NULL
593	548403	Disease	p.Arg220Trp	608348.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	139	cd02012	11386135,NP_000700
593	548403	Disease	p.Arg220Trp	608348.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	130	pfam00676	11386135,NP_000700
593	548403	Disease	p.Arg220Trp	608348.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	109	cd00568	11386135,NP_000700
593	548403	Disease	p.Arg220Trp	608348.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	183	COG1071	11386135,NP_000700
593	548403	Disease	p.Arg220Trp	608348.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	201	cd02000	11386135,NP_000700
593	258645172	Disease	p.Arg220Trp	608348.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	139	cd02012	NULL
593	258645172	Disease	p.Arg220Trp	608348.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	130	pfam00676	NULL
593	258645172	Disease	p.Arg220Trp	608348.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	109	cd00568	NULL
593	258645172	Disease	p.Arg220Trp	608348.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	183	COG1071	NULL
593	258645172	Disease	p.Arg220Trp	608348.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	201	cd02000	NULL
593	548403	Disease	p.Gly204Ser	608348.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	122	cd02012	11386135,NP_000700
593	548403	Disease	p.Gly204Ser	608348.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	110	pfam00676	11386135,NP_000700
593	548403	Disease	p.Gly204Ser	608348.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	93	cd00568	11386135,NP_000700
593	548403	Disease	p.Gly204Ser	608348.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	167	COG1071	11386135,NP_000700
593	548403	Disease	p.Gly204Ser	608348.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	185	cd02000	11386135,NP_000700
593	258645172	Disease	p.Gly204Ser	608348.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	122	cd02012	NULL
593	258645172	Disease	p.Gly204Ser	608348.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	110	pfam00676	NULL
593	258645172	Disease	p.Gly204Ser	608348.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	93	cd00568	NULL
593	258645172	Disease	p.Gly204Ser	608348.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	167	COG1071	NULL
593	258645172	Disease	p.Gly204Ser	608348.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	185	cd02000	NULL
593	548403	Disease	p.Thr265Arg	608348.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	198	cd02012	11386135,NP_000700
593	548403	Disease	p.Thr265Arg	608348.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	189	pfam00676	11386135,NP_000700
593	548403	Disease	p.Thr265Arg	608348.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	229	cd00568	11386135,NP_000700
593	548403	Disease	p.Thr265Arg	608348.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	236	COG1071	11386135,NP_000700
593	548403	Disease	p.Thr265Arg	608348.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	292	cd02000	11386135,NP_000700
593	258645172	Disease	p.Thr265Arg	608348.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	198	cd02012	NULL
593	258645172	Disease	p.Thr265Arg	608348.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	189	pfam00676	NULL
593	258645172	Disease	p.Thr265Arg	608348.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	229	cd00568	NULL
593	258645172	Disease	p.Thr265Arg	608348.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	236	COG1071	NULL
593	258645172	Disease	p.Thr265Arg	608348.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	292	cd02000	NULL
593	548403	Disease	p.Cys219Trp	608348.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	138	cd02012	11386135,NP_000700
593	548403	Disease	p.Cys219Trp	608348.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	129	pfam00676	11386135,NP_000700
593	548403	Disease	p.Cys219Trp	608348.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	108	cd00568	11386135,NP_000700
593	548403	Disease	p.Cys219Trp	608348.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	182	COG1071	11386135,NP_000700
593	548403	Disease	p.Cys219Trp	608348.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	200	cd02000	11386135,NP_000700
593	258645172	Disease	p.Cys219Trp	608348.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	138	cd02012	NULL
593	258645172	Disease	p.Cys219Trp	608348.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	129	pfam00676	NULL
593	258645172	Disease	p.Cys219Trp	608348.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	108	cd00568	NULL
593	258645172	Disease	p.Cys219Trp	608348.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	182	COG1071	NULL
593	258645172	Disease	p.Cys219Trp	608348.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608348	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA	OMIM	200	cd02000	NULL
153201	121943282	Disease	p.Gly87Val	608331.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608331	IMINOGLYCINURIA, DIGENIC||HYPERGLYCINURIA	OMIM	37	pfam01490	222418631,NP_861441
153201	121943282	Disease	p.Gly87Val	608331.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608331	IMINOGLYCINURIA, DIGENIC||HYPERGLYCINURIA	OMIM	42	COG0814	222418631,NP_861441
64129	61213628	Disease	p.Thr290Ser	608313.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608313	ARGININEMIA	OMIM	169	smart00645	11545918,NP_071447
64129	61213628	Disease	p.Thr290Ser	608313.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608313	ARGININEMIA	OMIM	114	pfam00112	11545918,NP_071447
64129	61213628	Disease	p.Thr290Ser	608313.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608313	ARGININEMIA	OMIM	100	cd02621	11545918,NP_071447
64129	61213628	Disease	p.Thr290Ser	608313.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608313	ARGININEMIA	OMIM	99	cd02698	11545918,NP_071447
64129	61213628	Disease	p.Thr290Ser	608313.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608313	ARGININEMIA	OMIM	196	cd02248	11545918,NP_071447
64129	61213628	Disease	p.Thr290Ser	608313.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608313	ARGININEMIA	OMIM	101	cd02620	11545918,NP_071447
64129	61213628	Disease	p.Thr290Ser	608313.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608313	ARGININEMIA	OMIM	138	cd02619	11545918,NP_071447
64129	61213628	Disease	p.Gly235Arg	608313.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608313	ARGININEMIA	OMIM	48	smart00645	11545918,NP_071447
64129	61213628	Disease	p.Gly235Arg	608313.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608313	ARGININEMIA	OMIM	39	pfam00112	11545918,NP_071447
64129	61213628	Disease	p.Gly235Arg	608313.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608313	ARGININEMIA	OMIM	37	cd02621	11545918,NP_071447
64129	61213628	Disease	p.Gly235Arg	608313.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608313	ARGININEMIA	OMIM	37	cd02698	11545918,NP_071447
64129	61213628	Disease	p.Gly235Arg	608313.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608313	ARGININEMIA	OMIM	50	cd02248	11545918,NP_071447
64129	61213628	Disease	p.Gly235Arg	608313.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608313	ARGININEMIA	OMIM	35	cd02620	11545918,NP_071447
64129	61213628	Disease	p.Gly235Arg	608313.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608313	ARGININEMIA	OMIM	37	cd02619	11545918,NP_071447
64129	61213628	Disease	p.Ile11Thr	608313.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608313	ARGININEMIA	OMIM	No Domain	N/A	11545918,NP_071447
64129	61213628	Disease	p.Gly138Val	608313.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608313	ARGININEMIA	OMIM	No Domain	N/A	11545918,NP_071447
158	6686318	Disease	p.Arg95Cys	608310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	75	cd01594	4557269,NP_000017
158	6686318	Disease	p.Arg95Cys	608310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	82	cd01334	4557269,NP_000017
158	6686318	Disease	p.Arg95Cys	608310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	98	cd01595	4557269,NP_000017
158	6686318	Disease	p.Arg95Cys	608310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	102	COG0015	4557269,NP_000017
158	6686318	Disease	p.Arg95Cys	608310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	84	cd03302	4557269,NP_000017
158	6686318	Disease	p.Arg95Cys	608310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	85	cd01360	4557269,NP_000017
158	6686318	Disease	p.Arg95Cys	608310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	86	cd01597	4557269,NP_000017
158	6686318	Disease	p.Arg95Cys	608310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	123	pfam00206	4557269,NP_000017
158	6686318	Disease	p.Arg95Cys	608310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	100	cd01598	4557269,NP_000017
158	183227688	Disease	p.Arg95Cys	608310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	75	cd01594	NULL
158	183227688	Disease	p.Arg95Cys	608310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	82	cd01334	NULL
158	183227688	Disease	p.Arg95Cys	608310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	123	pfam00206	NULL
158	183227688	Disease	p.Arg95Cys	608310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	98	cd01595	NULL
158	183227688	Disease	p.Arg95Cys	608310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	86	cd01597	NULL
158	183227688	Disease	p.Arg95Cys	608310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	100	cd01598	NULL
158	183227688	Disease	p.Arg95Cys	608310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	84	cd03302	NULL
158	183227688	Disease	p.Arg95Cys	608310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	102	COG0015	NULL
158	183227688	Disease	p.Arg95Cys	608310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	85	cd01360	NULL
158	6686318	Disease	p.Gln286Arg	608310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	427	cd01594	4557269,NP_000017
158	6686318	Disease	p.Gln286Arg	608310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	309	cd01334	4557269,NP_000017
158	6686318	Disease	p.Gln286Arg	608310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	308	cd01595	4557269,NP_000017
158	6686318	Disease	p.Gln286Arg	608310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	308	COG0015	4557269,NP_000017
158	6686318	Disease	p.Gln286Arg	608310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	279	cd03302	4557269,NP_000017
158	6686318	Disease	p.Gln286Arg	608310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	277	cd01360	4557269,NP_000017
158	6686318	Disease	p.Gln286Arg	608310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	285	cd01597	4557269,NP_000017
158	6686318	Disease	p.Gln286Arg	608310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	311	pfam00206	4557269,NP_000017
158	6686318	Disease	p.Gln286Arg	608310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	296_G	cd01598	4557269,NP_000017
158	183227688	Disease	p.Gln286Arg	608310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	427	cd01594	NULL
158	183227688	Disease	p.Gln286Arg	608310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	309	cd01334	NULL
158	183227688	Disease	p.Gln286Arg	608310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	311	pfam00206	NULL
158	183227688	Disease	p.Gln286Arg	608310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	308	cd01595	NULL
158	183227688	Disease	p.Gln286Arg	608310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	285	cd01597	NULL
158	183227688	Disease	p.Gln286Arg	608310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	296_G	cd01598	NULL
158	183227688	Disease	p.Gln286Arg	608310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	279	cd03302	NULL
158	183227688	Disease	p.Gln286Arg	608310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	308	COG0015	NULL
158	183227688	Disease	p.Gln286Arg	608310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	277	cd01360	NULL
158	6686318	Disease	p.Arg385Cys	608310.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	412	cd01595	4557269,NP_000017
158	6686318	Disease	p.Arg385Cys	608310.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	408	COG0015	4557269,NP_000017
158	6686318	Disease	p.Arg385Cys	608310.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	378	cd03302	4557269,NP_000017
158	6686318	Disease	p.Arg385Cys	608310.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	9	pfam10397	4557269,NP_000017
158	6686318	Disease	p.Arg385Cys	608310.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	375	cd01360	4557269,NP_000017
158	6686318	Disease	p.Arg385Cys	608310.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	385	cd01597	4557269,NP_000017
158	183227688	Disease	p.Arg385Cys	608310.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	412	cd01595	NULL
158	183227688	Disease	p.Arg385Cys	608310.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	385	cd01597	NULL
158	183227688	Disease	p.Arg385Cys	608310.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	378	cd03302	NULL
158	183227688	Disease	p.Arg385Cys	608310.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	408	COG0015	NULL
158	183227688	Disease	p.Arg385Cys	608310.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	375	cd01360	NULL
158	6686318	Disease	p.Val178Met	608310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	301	cd01594	4557269,NP_000017
158	6686318	Disease	p.Val178Met	608310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	183	cd01334	4557269,NP_000017
158	6686318	Disease	p.Val178Met	608310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	194	cd01595	4557269,NP_000017
158	6686318	Disease	p.Val178Met	608310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	192	COG0015	4557269,NP_000017
158	6686318	Disease	p.Val178Met	608310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	168	cd03302	4557269,NP_000017
158	6686318	Disease	p.Val178Met	608310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	173	cd01360	4557269,NP_000017
158	6686318	Disease	p.Val178Met	608310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	176	cd01597	4557269,NP_000017
158	6686318	Disease	p.Val178Met	608310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	199	pfam00206	4557269,NP_000017
158	6686318	Disease	p.Val178Met	608310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	189	cd01598	4557269,NP_000017
158	183227688	Disease	p.Val178Met	608310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	301	cd01594	NULL
158	183227688	Disease	p.Val178Met	608310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	183	cd01334	NULL
158	183227688	Disease	p.Val178Met	608310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	199	pfam00206	NULL
158	183227688	Disease	p.Val178Met	608310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	194	cd01595	NULL
158	183227688	Disease	p.Val178Met	608310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	176	cd01597	NULL
158	183227688	Disease	p.Val178Met	608310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	189	cd01598	NULL
158	183227688	Disease	p.Val178Met	608310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	168	cd03302	NULL
158	183227688	Disease	p.Val178Met	608310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	192	COG0015	NULL
158	183227688	Disease	p.Val178Met	608310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	173	cd01360	NULL
158	6686318	Disease	p.Arg379Cys	608310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	406	cd01595	4557269,NP_000017
158	6686318	Disease	p.Arg379Cys	608310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	402	COG0015	4557269,NP_000017
158	6686318	Disease	p.Arg379Cys	608310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	372	cd03302	4557269,NP_000017
158	6686318	Disease	p.Arg379Cys	608310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	3	pfam10397	4557269,NP_000017
158	6686318	Disease	p.Arg379Cys	608310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	369	cd01360	4557269,NP_000017
158	6686318	Disease	p.Arg379Cys	608310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	379	cd01597	4557269,NP_000017
158	183227688	Disease	p.Arg379Cys	608310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	406	cd01595	NULL
158	183227688	Disease	p.Arg379Cys	608310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	379	cd01597	NULL
158	183227688	Disease	p.Arg379Cys	608310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	372	cd03302	NULL
158	183227688	Disease	p.Arg379Cys	608310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	402	COG0015	NULL
158	183227688	Disease	p.Arg379Cys	608310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608310	ARGININOSUCCINIC ACIDURIA	OMIM	369	cd01360	NULL
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	9	cd06632	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	144_G	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	143	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	98_G	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	160	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	237	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	84_G	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	42	cd05579	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	287	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	78	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	94_G	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	88_G	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	71	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	77	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	83_G	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	167	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	72	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	82	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	108	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	360	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	116	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	310	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	31	cd06614	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	110_G	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	78_G	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	396	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	65	cd06610	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	608309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	94	cd07838	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	123	cd06606	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	91	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	67	cd07829	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	111	cd05581	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	171	cd00180	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	57	cd07831	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	188	smart00220	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	61	cd05118	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	75	cd05122	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	63	cd06627	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	31	cd08219	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	38	cd08220	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	55	cd06628	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	110	cd00192	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	46	cd08530	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	37	cd07832	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	77	cd08215	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	289	smart00221	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	94	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	213	smart00219	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	92	cd07830	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	51	cd06625	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	93	cd05123	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	2	cd06610	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	608309.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	66	cd07838	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	129	cd06632	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	190	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	190	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	150	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	226	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	340	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	111	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	106	cd05579	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	378	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	119	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	143	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	117	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	110	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	120	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	118	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	317	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	116	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	125	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	148	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	471	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	264	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	394	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	82	cd05578	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	160	cd06614	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	162	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	116	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	625	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	122	cd06610	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	608309.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	136	cd07838	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	131	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	103	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	75	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	119	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	179	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	69	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	202	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	69	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	83	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	71	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	37	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	46	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	63	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	118	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	53_G	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	56	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	85	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	299	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	102	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	221	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	100	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	59	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	101	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	19	cd06610	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	608309.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, EARLY-ONSET	OMIM	74	cd07838	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	21	cd06632	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	148	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	147	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	101	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	164	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	241	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	85	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	46	cd05579	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	291	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	82	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	98	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	91	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	72_G	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	87	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	84	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	171	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	76	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	86	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	112	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	364	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	120	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	314	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	4	cd05578	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	35	cd06614	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	114	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	80	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	400	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	75	cd06610	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	608309.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	98	cd07838	14165272,NP_115785
65018	48428484	Disease	p.Ala217Asp	608309.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	74	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Ala217Asp	608309.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	62	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Ala217Asp	608309.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	59	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Ala217Asp	608309.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	103	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Ala217Asp	608309.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	52	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Ala217Asp	608309.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	100	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	205	cd06632	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	324	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	330	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	229	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	430	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	663	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	186_G	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	723_G	cd05579	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	761	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	190	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	222	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	224_G	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	178	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	187	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	194	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	415	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	185	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	200	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	246	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	782	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	375	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	567	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	188	cd05578	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	231	cd06614	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	253	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	189_G	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	789	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	201	cd06610	14165272,NP_115785
65018	48428484	Disease	p.Tyr431His	608309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	204	cd07838	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	177	cd06632	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	276	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	288	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	210	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	276	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	458	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	162	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	157	cd05579	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	628	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	171	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	189	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	176	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	155	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	162	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	167	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	374_G	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	169_G	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	179	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	223	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	677	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	345	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	498	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	152	cd05578	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	197_G	cd06614	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	231	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	164	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	687	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	172	cd06610	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	608309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608309	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	183_G	cd07838	14165272,NP_115785
1589	190570174	Disease	p.Thr544Met	608307.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608307	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY	OMIM	No Domain	N/A	NULL
1589	14550409	Disease	p.Thr544Met	608307.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608307	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY	OMIM	No Domain	N/A	NULL
1589	190570174	Disease	p.His337Arg	608307.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608307	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY	OMIM	417	COG2124	NULL
1589	190570174	Disease	p.His337Arg	608307.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608307	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY	OMIM	416	pfam00067	NULL
1589	14550409	Disease	p.His337Arg	608307.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608307	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY	OMIM	385	COG2124	NULL
1589	14550409	Disease	p.His337Arg	608307.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608307	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY	OMIM	385	pfam00067	NULL
1589	190570174	Disease	p.Thr1405Asn	608307.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608307	PULMONARY HYPERTENSION, FAMILIAL PERSISTENT, OF THE NEWBORN, SUSCEPTIBILITY TO||VENOOCCLUSIVE DISEASE AFTER BONE MARROW TRANSPLANTATION, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
1589	14550409	Disease	p.Thr1405Asn	608307.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608307	PULMONARY HYPERTENSION, FAMILIAL PERSISTENT, OF THE NEWBORN, SUSCEPTIBILITY TO||VENOOCCLUSIVE DISEASE AFTER BONE MARROW TRANSPLANTATION, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
1589	190570174	Disease	p.Gly982Asp	608307.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608307	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY	OMIM	No Domain	N/A	NULL
1589	14550409	Disease	p.Gly982Asp	608307.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608307	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY	OMIM	No Domain	N/A	NULL
162417	74714699	Disease	p.Ala279Thr	608300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	193	cd04238	23308587,NP_694551
162417	74714699	Disease	p.Ala279Thr	608300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	203	cd04250	23308587,NP_694551
162417	74714699	Disease	p.Ala279Thr	608300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	161	cd04252	23308587,NP_694551
162417	74714699	Disease	p.Ala279Thr	608300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	183	cd04236	23308587,NP_694551
162417	74714699	Disease	p.Ala279Thr	608300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	194	COG0548	23308587,NP_694551
162417	74714699	Disease	p.Ala279Thr	608300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	303	COG5630	23308587,NP_694551
162417	74714699	Disease	p.Ala279Thr	608300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	305	cd02115	23308587,NP_694551
162417	74714699	Disease	p.Leu430Pro	608300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	113	pfam04768	23308587,NP_694551
162417	74714699	Disease	p.Leu430Pro	608300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	455	COG5630	23308587,NP_694551
162417	74714699	Disease	p.Leu430Pro	608300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	29	cd04263	23308587,NP_694551
162417	74714699	Disease	p.Leu430Pro	608300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	26	cd04266	23308587,NP_694551
162417	74714699	Disease	p.Leu430Pro	608300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	30	cd04265	23308587,NP_694551
162417	74714699	Disease	p.Leu430Pro	608300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	34	cd03173	23308587,NP_694551
162417	74714699	Disease	p.Leu430Pro	608300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	30	cd04264	23308587,NP_694551
162417	74714699	Disease	p.Trp484Arg	608300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	216	pfam04768	23308587,NP_694551
162417	74714699	Disease	p.Trp484Arg	608300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	515	COG5630	23308587,NP_694551
162417	74714699	Disease	p.Trp484Arg	608300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	94	cd04263	23308587,NP_694551
162417	74714699	Disease	p.Trp484Arg	608300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	115	cd04266	23308587,NP_694551
162417	74714699	Disease	p.Trp484Arg	608300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	103	cd04265	23308587,NP_694551
162417	74714699	Disease	p.Trp484Arg	608300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	91	cd03173	23308587,NP_694551
162417	74714699	Disease	p.Trp484Arg	608300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	108	cd04264	23308587,NP_694551
162417	74714699	Disease	p.Glu433Asp	608300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	118	pfam04768	23308587,NP_694551
162417	74714699	Disease	p.Glu433Asp	608300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	458	COG5630	23308587,NP_694551
162417	74714699	Disease	p.Glu433Asp	608300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	32	cd04263	23308587,NP_694551
162417	74714699	Disease	p.Glu433Asp	608300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	29	cd04266	23308587,NP_694551
162417	74714699	Disease	p.Glu433Asp	608300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	33	cd04265	23308587,NP_694551
162417	74714699	Disease	p.Glu433Asp	608300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	37	cd03173	23308587,NP_694551
162417	74714699	Disease	p.Glu433Asp	608300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608300	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	OMIM	33	cd04264	23308587,NP_694551
55605	38569484	Disease	p.Arg954Trp	608283.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1||FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B	OMIM	No Domain	N/A	NULL
55605	50400977	Disease	p.Arg954Trp	608283.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1||FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B	OMIM	No Domain	N/A	291167762,NP_001166935
55605	291167760	Disease	p.Arg954Trp	608283.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1||FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B	OMIM	No Domain	N/A	NULL
55605	291167764	Disease	p.Arg954Trp	608283.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1||FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B	OMIM	No Domain	N/A	NULL
55605	38569484	Disease	p.Arg954Gln	608283.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1||FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B	OMIM	No Domain	N/A	NULL
55605	50400977	Disease	p.Arg954Gln	608283.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1||FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B	OMIM	No Domain	N/A	291167762,NP_001166935
55605	291167760	Disease	p.Arg954Gln	608283.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1||FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B	OMIM	No Domain	N/A	NULL
55605	291167764	Disease	p.Arg954Gln	608283.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1||FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B	OMIM	No Domain	N/A	NULL
55605	38569484	Disease	p.Ile1010Thr	608283.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	No Domain	N/A	NULL
55605	50400977	Disease	p.Ile1010Thr	608283.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	No Domain	N/A	291167762,NP_001166935
55605	291167760	Disease	p.Ile1010Thr	608283.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	No Domain	N/A	NULL
55605	291167764	Disease	p.Ile1010Thr	608283.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	No Domain	N/A	NULL
55605	38569484	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	400	cd01366	NULL
55605	38569484	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	421	cd01369	NULL
55605	38569484	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	498	cd01364	NULL
55605	38569484	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	584	COG5059	NULL
55605	38569484	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	442	cd01370	NULL
55605	38569484	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	496	cd01374	NULL
55605	38569484	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	385	cd01376	NULL
55605	38569484	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	993	cd00106	NULL
55605	38569484	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	443	cd01375	NULL
55605	38569484	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	1139	smart00129	NULL
55605	38569484	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	625	pfam00225	NULL
55605	38569484	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	359	cd01373	NULL
55605	38569484	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	369	cd01371	NULL
55605	38569484	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	529	cd01367	NULL
55605	38569484	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	507	cd01368	NULL
55605	38569484	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	503	cd01372	NULL
55605	38569484	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	438	cd01365	NULL
55605	50400977	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	400	cd01366	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	421	cd01369	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	498	cd01364	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	584	COG5059	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	442	cd01370	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	496	cd01374	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	385	cd01376	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	993	cd00106	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	443	cd01375	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	1139	smart00129	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	625	pfam00225	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	359	cd01373	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	369	cd01371	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	529	cd01367	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	507	cd01368	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	503	cd01372	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	438	cd01365	291167762,NP_001166935
55605	291167760	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	400	cd01366	NULL
55605	291167760	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	421	cd01369	NULL
55605	291167760	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	498	cd01364	NULL
55605	291167760	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	584	COG5059	NULL
55605	291167760	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	442	cd01370	NULL
55605	291167760	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	496	cd01374	NULL
55605	291167760	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	385	cd01376	NULL
55605	291167760	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	993	cd00106	NULL
55605	291167760	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	443	cd01375	NULL
55605	291167760	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	1139	smart00129	NULL
55605	291167760	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	625	pfam00225	NULL
55605	291167760	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	359	cd01373	NULL
55605	291167760	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	369	cd01371	NULL
55605	291167760	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	529	cd01367	NULL
55605	291167760	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	507	cd01368	NULL
55605	291167760	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	503	cd01372	NULL
55605	291167760	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	438	cd01365	NULL
55605	291167764	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	400	cd01366	NULL
55605	291167764	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	421	cd01369	NULL
55605	291167764	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	498	cd01364	NULL
55605	291167764	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	584	COG5059	NULL
55605	291167764	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	442	cd01370	NULL
55605	291167764	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	496	cd01374	NULL
55605	291167764	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	385	cd01376	NULL
55605	291167764	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	993	cd00106	NULL
55605	291167764	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	443	cd01375	NULL
55605	291167764	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	1139	smart00129	NULL
55605	291167764	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	625	pfam00225	NULL
55605	291167764	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	359	cd01373	NULL
55605	291167764	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	369	cd01371	NULL
55605	291167764	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	529	cd01367	NULL
55605	291167764	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	507	cd01368	NULL
55605	291167764	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	503	cd01372	NULL
55605	291167764	Disease	p.Met356Thr	608283.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	438	cd01365	NULL
55605	38569484	Disease	p.Met947Val	608283.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	No Domain	N/A	NULL
55605	50400977	Disease	p.Met947Val	608283.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	No Domain	N/A	291167762,NP_001166935
55605	291167760	Disease	p.Met947Val	608283.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	No Domain	N/A	NULL
55605	291167764	Disease	p.Met947Val	608283.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	No Domain	N/A	NULL
55605	38569484	Disease	p.Met947Arg	608283.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	No Domain	N/A	NULL
55605	50400977	Disease	p.Met947Arg	608283.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	No Domain	N/A	291167762,NP_001166935
55605	291167760	Disease	p.Met947Arg	608283.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	No Domain	N/A	NULL
55605	291167764	Disease	p.Met947Arg	608283.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1	OMIM	No Domain	N/A	NULL
55605	38569484	Disease	p.Met947Ile	608283.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B	OMIM	No Domain	N/A	NULL
55605	50400977	Disease	p.Met947Ile	608283.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B	OMIM	No Domain	N/A	291167762,NP_001166935
55605	291167760	Disease	p.Met947Ile	608283.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B	OMIM	No Domain	N/A	NULL
55605	291167764	Disease	p.Met947Ile	608283.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608283	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B	OMIM	No Domain	N/A	NULL
4758	17368612	Disease	p.Leu91Arg	608272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608272	SIALIDOSIS, TYPE II	OMIM	47	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Phe260Tyr	608272.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608272	SIALIDOSIS, TYPE II	OMIM	704	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Leu303Pro	608272.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608272	SIALIDOSIS, TYPE II	OMIM	758	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Val217Met	608272.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608272	SIALIDOSIS, TYPE I	OMIM	544	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Gly243Arg	608272.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608272	SIALIDOSIS, TYPE I	OMIM	622	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Pro80Leu	608272.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608272	SIALIDOSIS, TYPE II	OMIM	34	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Trp240Arg	608272.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608272	SIALIDOSIS, TYPE II	OMIM	618	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Pro316Ser	608272.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608272	SIALIDOSIS, TYPE I	OMIM	796	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Arg225Pro	608272.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608272	SIALIDOSIS, TYPE II	OMIM	598	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Ala298Val	608272.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608272	SIALIDOSIS, TYPE II	OMIM	751	cd00260	4557791,NP_000425
6330	215272332	Disease	p.Leu179Phe	608256.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608256	LONG QT SYNDROME 10	OMIM	No Domain	N/A	NULL
6330	57012701	Disease	p.Leu179Phe	608256.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608256	LONG QT SYNDROME 10	OMIM	No Domain	N/A	28372555,NP_777594
6330	215272334	Disease	p.Leu179Phe	608256.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608256	LONG QT SYNDROME 10	OMIM	No Domain	N/A	NULL
121391	166218812	Disease	p.Asn148Lys	608248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608248	WOOLLY HAIR, AUTOSOMAL DOMINANT	OMIM	10	pfam00038	148612803,NP_778223
158	6686318	Disease	p.Ser413Pro	608222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	446	cd01595	4557269,NP_000017
158	6686318	Disease	p.Ser413Pro	608222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	437	COG0015	4557269,NP_000017
158	6686318	Disease	p.Ser413Pro	608222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	408	cd03302	4557269,NP_000017
158	6686318	Disease	p.Ser413Pro	608222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	45	pfam10397	4557269,NP_000017
158	6686318	Disease	p.Ser413Pro	608222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	401	cd01360	4557269,NP_000017
158	6686318	Disease	p.Ser413Pro	608222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	416_G	cd01597	4557269,NP_000017
158	183227688	Disease	p.Ser413Pro	608222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	473	cd01595	NULL
158	183227688	Disease	p.Ser413Pro	608222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	434	cd01597	NULL
158	183227688	Disease	p.Ser413Pro	608222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	446	cd03302	NULL
158	183227688	Disease	p.Ser413Pro	608222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	485	COG0015	NULL
158	183227688	Disease	p.Ser413Pro	608222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	451	cd01360	NULL
158	6686318	Disease	p.Arg426His	608222.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	459	cd01595	4557269,NP_000017
158	6686318	Disease	p.Arg426His	608222.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	457	COG0015	4557269,NP_000017
158	6686318	Disease	p.Arg426His	608222.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	421	cd03302	4557269,NP_000017
158	6686318	Disease	p.Arg426His	608222.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	77	pfam10397	4557269,NP_000017
158	6686318	Disease	p.Arg426His	608222.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	416	cd01360	4557269,NP_000017
158	6686318	Disease	p.Arg426His	608222.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	430	cd01597	4557269,NP_000017
158	183227688	Disease	p.Arg426His	608222.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	No Domain	N/A	NULL
158	6686318	Disease	p.Pro75Ala	608222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	55	cd01594	4557269,NP_000017
158	6686318	Disease	p.Pro75Ala	608222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	52	cd01334	4557269,NP_000017
158	6686318	Disease	p.Pro75Ala	608222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	71	cd01595	4557269,NP_000017
158	6686318	Disease	p.Pro75Ala	608222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	75	COG0015	4557269,NP_000017
158	6686318	Disease	p.Pro75Ala	608222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	64	cd03302	4557269,NP_000017
158	6686318	Disease	p.Pro75Ala	608222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	65	cd01360	4557269,NP_000017
158	6686318	Disease	p.Pro75Ala	608222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	66	cd01597	4557269,NP_000017
158	6686318	Disease	p.Pro75Ala	608222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	82	pfam00206	4557269,NP_000017
158	6686318	Disease	p.Pro75Ala	608222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	66	cd01598	4557269,NP_000017
158	183227688	Disease	p.Pro75Ala	608222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	55	cd01594	NULL
158	183227688	Disease	p.Pro75Ala	608222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	52	cd01334	NULL
158	183227688	Disease	p.Pro75Ala	608222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	82	pfam00206	NULL
158	183227688	Disease	p.Pro75Ala	608222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	71	cd01595	NULL
158	183227688	Disease	p.Pro75Ala	608222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	66	cd01597	NULL
158	183227688	Disease	p.Pro75Ala	608222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	66	cd01598	NULL
158	183227688	Disease	p.Pro75Ala	608222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	64	cd03302	NULL
158	183227688	Disease	p.Pro75Ala	608222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	75	COG0015	NULL
158	183227688	Disease	p.Pro75Ala	608222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	65	cd01360	NULL
158	6686318	Disease	p.Asp397Tyr	608222.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	430	cd01595	4557269,NP_000017
158	6686318	Disease	p.Asp397Tyr	608222.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	421	COG0015	4557269,NP_000017
158	6686318	Disease	p.Asp397Tyr	608222.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	391	cd03302	4557269,NP_000017
158	6686318	Disease	p.Asp397Tyr	608222.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	23	pfam10397	4557269,NP_000017
158	6686318	Disease	p.Asp397Tyr	608222.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	389	cd01360	4557269,NP_000017
158	6686318	Disease	p.Asp397Tyr	608222.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	403	cd01597	4557269,NP_000017
158	183227688	Disease	p.Asp397Tyr	608222.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	430	cd01595	NULL
158	183227688	Disease	p.Asp397Tyr	608222.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	415	cd01597	NULL
158	183227688	Disease	p.Asp397Tyr	608222.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	391	cd03302	NULL
158	183227688	Disease	p.Asp397Tyr	608222.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	437	COG0015	NULL
158	183227688	Disease	p.Asp397Tyr	608222.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	389	cd01360	NULL
158	6686318	Disease	p.Arg190Gln	608222.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	313	cd01594	4557269,NP_000017
158	6686318	Disease	p.Arg190Gln	608222.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	195	cd01334	4557269,NP_000017
158	6686318	Disease	p.Arg190Gln	608222.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	206	cd01595	4557269,NP_000017
158	6686318	Disease	p.Arg190Gln	608222.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	204	COG0015	4557269,NP_000017
158	6686318	Disease	p.Arg190Gln	608222.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	180	cd03302	4557269,NP_000017
158	6686318	Disease	p.Arg190Gln	608222.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	185	cd01360	4557269,NP_000017
158	6686318	Disease	p.Arg190Gln	608222.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	188	cd01597	4557269,NP_000017
158	6686318	Disease	p.Arg190Gln	608222.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	211	pfam00206	4557269,NP_000017
158	6686318	Disease	p.Arg190Gln	608222.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	201	cd01598	4557269,NP_000017
158	183227688	Disease	p.Arg190Gln	608222.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	313	cd01594	NULL
158	183227688	Disease	p.Arg190Gln	608222.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	195	cd01334	NULL
158	183227688	Disease	p.Arg190Gln	608222.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	211	pfam00206	NULL
158	183227688	Disease	p.Arg190Gln	608222.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	206	cd01595	NULL
158	183227688	Disease	p.Arg190Gln	608222.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	188	cd01597	NULL
158	183227688	Disease	p.Arg190Gln	608222.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	201	cd01598	NULL
158	183227688	Disease	p.Arg190Gln	608222.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	180	cd03302	NULL
158	183227688	Disease	p.Arg190Gln	608222.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	204	COG0015	NULL
158	183227688	Disease	p.Arg190Gln	608222.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	185	cd01360	NULL
158	6686318	Disease	p.Lys246Glu	608222.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	377	cd01594	4557269,NP_000017
158	6686318	Disease	p.Lys246Glu	608222.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	263	cd01334	4557269,NP_000017
158	6686318	Disease	p.Lys246Glu	608222.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	265	cd01595	4557269,NP_000017
158	6686318	Disease	p.Lys246Glu	608222.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	265	COG0015	4557269,NP_000017
158	6686318	Disease	p.Lys246Glu	608222.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	237	cd03302	4557269,NP_000017
158	6686318	Disease	p.Lys246Glu	608222.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	234	cd01360	4557269,NP_000017
158	6686318	Disease	p.Lys246Glu	608222.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	245	cd01597	4557269,NP_000017
158	6686318	Disease	p.Lys246Glu	608222.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	268	pfam00206	4557269,NP_000017
158	6686318	Disease	p.Lys246Glu	608222.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	251	cd01598	4557269,NP_000017
158	183227688	Disease	p.Lys246Glu	608222.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	377	cd01594	NULL
158	183227688	Disease	p.Lys246Glu	608222.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	263	cd01334	NULL
158	183227688	Disease	p.Lys246Glu	608222.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	268	pfam00206	NULL
158	183227688	Disease	p.Lys246Glu	608222.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	265	cd01595	NULL
158	183227688	Disease	p.Lys246Glu	608222.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	245	cd01597	NULL
158	183227688	Disease	p.Lys246Glu	608222.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	251	cd01598	NULL
158	183227688	Disease	p.Lys246Glu	608222.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	237	cd03302	NULL
158	183227688	Disease	p.Lys246Glu	608222.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	265	COG0015	NULL
158	183227688	Disease	p.Lys246Glu	608222.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	234	cd01360	NULL
158	6686318	Disease	p.Met225Thr	608222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	356	cd01594	4557269,NP_000017
158	6686318	Disease	p.Met225Thr	608222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	233	cd01334	4557269,NP_000017
158	6686318	Disease	p.Met225Thr	608222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	243	cd01595	4557269,NP_000017
158	6686318	Disease	p.Met225Thr	608222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	244	COG0015	4557269,NP_000017
158	6686318	Disease	p.Met225Thr	608222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	216	cd03302	4557269,NP_000017
158	6686318	Disease	p.Met225Thr	608222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	213	cd01360	4557269,NP_000017
158	6686318	Disease	p.Met225Thr	608222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	224	cd01597	4557269,NP_000017
158	6686318	Disease	p.Met225Thr	608222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	247	pfam00206	4557269,NP_000017
158	6686318	Disease	p.Met225Thr	608222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	228	cd01598	4557269,NP_000017
158	183227688	Disease	p.Met225Thr	608222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	356	cd01594	NULL
158	183227688	Disease	p.Met225Thr	608222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	233	cd01334	NULL
158	183227688	Disease	p.Met225Thr	608222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	247	pfam00206	NULL
158	183227688	Disease	p.Met225Thr	608222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	243	cd01595	NULL
158	183227688	Disease	p.Met225Thr	608222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	224	cd01597	NULL
158	183227688	Disease	p.Met225Thr	608222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	228	cd01598	NULL
158	183227688	Disease	p.Met225Thr	608222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	216	cd03302	NULL
158	183227688	Disease	p.Met225Thr	608222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	244	COG0015	NULL
158	183227688	Disease	p.Met225Thr	608222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608222	ADENYLOSUCCINASE DEFICIENCY	OMIM	213	cd01360	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	162	cd07838	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	212	cd07830	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	228	pfam00069	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	186	cd07840	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	163	cd07835	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	146	cd06629	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	562	smart00221	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	441	smart00219	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	310	pfam07714	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05625	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	143	cd07831	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05589	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	186	cd07829	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	145	cd05118	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	145	cd07858	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	169	cd05050	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	166	cd06652	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	147	cd06917	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05598	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05597	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05612	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	159	cd05574	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	152	cd06622	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	193	cd05573	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05628	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05627	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	148	cd06610	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	190	cd05580	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd07847	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd06620	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	164	cd05038	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	163	cd07833	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	160	cd06609	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	304	cd05599	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05609	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05626	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	155	cd06605	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05623	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05629	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd06615	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd06650	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	252	cd05581	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05600	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05624	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd06617	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd05148	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	164	cd07855	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd07846	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	185	cd06623	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd05034	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	151	cd06612	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	152	cd06619	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	593	COG0515	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd06641	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd06640	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd06642	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd06643	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd06649	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05601	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd06653	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	155	cd07837	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	144	cd05081	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	143	cd08224	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd08228	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd08229	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	147	cd06637	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	152	cd06648	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	151	cd06647	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	151	cd06655	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	178	cd05596	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	160	cd07865	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	151	cd06656	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	178	cd05621	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	178	cd05622	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	156	cd07850	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	154	cd07880	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	151	cd06634	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd05610	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	154	cd05036	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	154	cd06658	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	152	cd06657	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	170	cd07851	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	157	cd06636	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	160	cd06638	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	188	cd06614	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	153	cd06659	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	179	cd06608	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	160	cd05090	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	136	cd05114	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd06646	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd06645	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	157	cd07845	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd06630	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	131	cd05593	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05603	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05594	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	134	cd05570	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05571	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05602	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	131	cd05595	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05617	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05588	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05591	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05604	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd06626	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd05040	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05618	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd06625	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05590	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	345	cd00192	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	147	cd05620	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05619	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	147	cd05592	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05575	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	155	cd06632	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	146	cd05044	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	130	cd05084	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	131	cd05116	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05041	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	146	cd06621	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	436	cd00180	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05579	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	652	cd05123	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	133	cd05633	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05586	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	133	cd05608	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	134	cd05606	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	129	cd05585	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	131	cd05607	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	204	cd05572	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	136	cd05577	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	171	cd06639	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	155	cd06618	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	134	cd05582	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd06611	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	133	cd05611	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd05584	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	207	cd08217	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05615	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	226	cd06606	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	146	cd06627	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd08218	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	156	cd07832	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	179	cd07834	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05630	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd05614	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05605	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	153	cd07841	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	145	cd07857	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd06651	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05578	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd05583	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd05587	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05616	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd08225	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	136	cd08219	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd06631	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05059	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd08223	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd08221	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	146	cd08220	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	143	cd08222	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd07836	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd07861	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	135	cd07839	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	147	cd07863	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	136	cd07860	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	196	cd08215	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	145	cd08530	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	144	cd06628	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	246	cd07842	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	159	cd08528	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd07853	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd08529	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	154	cd05613	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05631	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05632	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	171	cd05122	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	469	smart00220	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	150	cd06624	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	146	cd06644	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	161	cd06635	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	145	cd07852	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	136	cd05112	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05113	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd07871	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd07844	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	154	cd07864	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	151	cd06616	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd05039	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	174	cd05033	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	163	cd05049	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd07873	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd06613	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	158	cd05092	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	154	cd07843	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	152	cd06654	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd07870	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd05068	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	136	cd05083	NULL
84930	172073175	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	200	cd05032	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	162	cd07838	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	212	cd07830	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	228	pfam00069	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	186	cd07840	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	163	cd07835	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	146	cd06629	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	562	smart00221	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	441	smart00219	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	310	pfam07714	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05625	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	143	cd07831	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05589	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	186	cd07829	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	145	cd05118	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	145	cd07858	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	169	cd05050	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	166	cd06652	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	147	cd06917	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05598	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05597	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05612	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	159	cd05574	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	152	cd06622	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	193	cd05573	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05628	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05627	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	148	cd06610	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	190	cd05580	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd07847	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd06620	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	164	cd05038	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	163	cd07833	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	160	cd06609	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	304	cd05599	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05609	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05626	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	155	cd06605	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05623	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05629	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd06615	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd06650	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	252	cd05581	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05600	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05624	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd06617	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd05148	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	164	cd07855	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd07846	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	185	cd06623	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd05034	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	151	cd06612	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	152	cd06619	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	593	COG0515	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd06641	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd06640	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd06642	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd06643	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd06649	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05601	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd06653	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	155	cd07837	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	144	cd05081	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	143	cd08224	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd08228	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd08229	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	147	cd06637	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	152	cd06648	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	151	cd06647	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	151	cd06655	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	178	cd05596	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	160	cd07865	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	151	cd06656	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	178	cd05621	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	178	cd05622	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	156	cd07850	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	154	cd07880	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	151	cd06634	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd05610	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	154	cd05036	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	154	cd06658	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	152	cd06657	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	170	cd07851	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	157	cd06636	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	160	cd06638	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	188	cd06614	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	153	cd06659	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	179	cd06608	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	160	cd05090	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	136	cd05114	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd06646	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd06645	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	157	cd07845	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd06630	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	131	cd05593	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05603	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05594	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	134	cd05570	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05571	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05602	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	131	cd05595	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05617	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05588	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05591	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05604	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd06626	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd05040	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05618	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd06625	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05590	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	345	cd00192	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	147	cd05620	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05619	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	147	cd05592	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05575	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	155	cd06632	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	146	cd05044	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	130	cd05084	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	131	cd05116	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05041	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	146	cd06621	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	436	cd00180	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	652	cd05123	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05579	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	133	cd05633	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05586	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	133	cd05608	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	134	cd05606	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	129	cd05585	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	131	cd05607	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	204	cd05572	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	136	cd05577	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	171	cd06639	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	155	cd06618	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	134	cd05582	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd06611	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	133	cd05611	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd05584	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	207	cd08217	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05615	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	226	cd06606	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	146	cd06627	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd08218	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	156	cd07832	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	179	cd07834	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05630	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd05614	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05605	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	153	cd07841	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	145	cd07857	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd06651	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05578	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd05583	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd05587	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05616	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd08225	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	136	cd08219	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd06631	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05059	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd08223	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd08221	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	146	cd08220	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	143	cd08222	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd07836	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd07861	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	135	cd07839	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	147	cd07863	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	136	cd07860	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	196	cd08215	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	145	cd08530	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	144	cd06628	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	246	cd07842	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	159	cd08528	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd07853	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd08529	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	154	cd05613	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05631	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05632	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	171	cd05122	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	469	smart00220	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	150	cd06624	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	146	cd06644	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	161	cd06635	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	145	cd07852	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	136	cd05112	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05113	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd07871	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd07844	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	154	cd07864	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	151	cd06616	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd05039	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	174	cd05033	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	163	cd05049	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd07873	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd06613	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	158	cd05092	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	154	cd07843	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	152	cd06654	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd07870	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd05068	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	136	cd05083	NULL
84930	288806590	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	200	cd05032	NULL
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	162	cd07838	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	212	cd07830	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	228	pfam00069	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	186	cd07840	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	163	cd07835	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	146	cd06629	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	562	smart00221	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	441	smart00219	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	310	pfam07714	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05625	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	143	cd07831	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05589	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	186	cd07829	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	145	cd05118	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	145	cd07858	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	169	cd05050	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	166	cd06652	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	147	cd06917	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05598	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05597	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05612	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	159	cd05574	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	152	cd06622	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	193	cd05573	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05628	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05627	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	148	cd06610	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	190	cd05580	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd07847	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd06620	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	164	cd05038	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	163	cd07833	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	160	cd06609	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	304	cd05599	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05609	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05626	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	155	cd06605	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05623	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05629	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd06615	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd06650	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	252	cd05581	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05600	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05624	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd06617	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd05148	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	164	cd07855	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd07846	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	185	cd06623	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd05034	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	151	cd06612	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	152	cd06619	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	593	COG0515	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd06641	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd06640	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd06642	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd06643	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd06649	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05601	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd06653	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	155	cd07837	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	144	cd05081	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	143	cd08224	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd08228	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd08229	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	147	cd06637	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	152	cd06648	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	151	cd06647	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	151	cd06655	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	178	cd05596	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	160	cd07865	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	151	cd06656	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	178	cd05621	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	178	cd05622	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	156	cd07850	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	154	cd07880	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	151	cd06634	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd05610	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	154	cd05036	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	154	cd06658	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	152	cd06657	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	170	cd07851	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	157	cd06636	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	160	cd06638	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	188	cd06614	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	153	cd06659	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	179	cd06608	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	160	cd05090	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	136	cd05114	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd06646	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd06645	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	157	cd07845	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd06630	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	131	cd05593	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05603	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05594	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	134	cd05570	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05571	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05602	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	131	cd05595	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05617	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05588	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05591	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05604	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd06626	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd05040	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05618	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd06625	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05590	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	345	cd00192	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	147	cd05620	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05619	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	147	cd05592	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05575	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	155	cd06632	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	146	cd05044	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	130	cd05084	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	131	cd05116	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05041	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	146	cd06621	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	436	cd00180	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05579	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	652	cd05123	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	133	cd05633	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	132	cd05586	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	133	cd05608	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	134	cd05606	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	129	cd05585	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	131	cd05607	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	204	cd05572	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	136	cd05577	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	171	cd06639	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	155	cd06618	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	134	cd05582	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd06611	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	133	cd05611	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd05584	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	207	cd08217	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05615	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	226	cd06606	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	146	cd06627	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd08218	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	156	cd07832	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	179	cd07834	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05630	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd05614	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05605	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	153	cd07841	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	145	cd07857	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd06651	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05578	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd05583	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd05587	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05616	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd08225	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	136	cd08219	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd06631	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05059	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd08223	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd08221	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	146	cd08220	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	143	cd08222	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd07836	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd07861	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	135	cd07839	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	147	cd07863	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	136	cd07860	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	196	cd08215	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	145	cd08530	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	144	cd06628	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	246	cd07842	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	159	cd08528	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd07853	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd08529	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	154	cd05613	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05631	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	138	cd05632	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	171	cd05122	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	469	smart00220	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	150	cd06624	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	146	cd06644	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	161	cd06635	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	145	cd07852	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	136	cd05112	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	137	cd05113	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd07871	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd07844	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	154	cd07864	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	151	cd06616	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	142	cd05039	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	174	cd05033	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	163	cd05049	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	140	cd07873	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd06613	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	158	cd05092	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	154	cd07843	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	152	cd06654	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	139	cd07870	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	141	cd05068	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	136	cd05083	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	608221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608221	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2	OMIM	200	cd05032	288806587,NP_001165774
55800	12229762	Disease	p.Leu10Pro	608214.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608214	BRUGADA SYNDROME 7	OMIM	No Domain	N/A	9055238,NP_060870|93587332,NP_001035241
55800	12229762	Disease	p.Leu10Pro	608214.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608214	BRUGADA SYNDROME 7	OMIM	No Domain	N/A	9055238,NP_060870|93587332,NP_001035241
2132	3023739	Disease	p.Asp227Asn	608210.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608210	EXOSTOSES, MULTIPLE, TYPE II	OMIM	264	pfam03016	46370069,NP_997005
2132	296010875	Disease	p.Asp227Asn	608210.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608210	EXOSTOSES, MULTIPLE, TYPE II	OMIM	264	pfam03016	NULL
2132	296010873	Disease	p.Asp227Asn	608210.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608210	EXOSTOSES, MULTIPLE, TYPE II	OMIM	208	pfam03016	NULL
79628	46396469	Disease	p.Arg529Gln	608206.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608206	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C	OMIM	No Domain	N/A	38488692,NP_078853
79628	46396469	Disease	p.Glu657Lys	608206.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608206	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C	OMIM	No Domain	N/A	38488692,NP_078853
79628	46396469	Disease	p.Tyr169His	608206.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608206	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C||MONONEUROPATHY OF THE MEDIAN NERVE, MILD	OMIM	No Domain	N/A	38488692,NP_078853
85300	38257451	Disease	p.Ser301Arg	608179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608179	CAYMAN ATAXIA	OMIM	271	smart00516	29336043,NP_149053
85300	38257451	Disease	p.Ser301Arg	608179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608179	CAYMAN ATAXIA	OMIM	198	cd00170	29336043,NP_149053
2131	20141422	Disease	p.Arg340Leu	608177.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608177	EXOSTOSES, MULTIPLE, TYPE I	OMIM	479	pfam03016	46370066,NP_000118
2131	20141422	Disease	p.Gly339Asp	608177.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608177	EXOSTOSES, MULTIPLE, TYPE I	OMIM	478	pfam03016	46370066,NP_000118
2131	20141422	Disease	p.Arg340Cys	608177.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608177	EXOSTOSES, MULTIPLE, TYPE I	OMIM	479	pfam03016	46370066,NP_000118
9723	296011008	Disease	p.Ser703Leu	608166.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608166	CHARGE SYNDROME	OMIM	No Domain	N/A	NULL
9723	8134690	Disease	p.Ser703Leu	608166.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608166	CHARGE SYNDROME	OMIM	No Domain	N/A	6912650,NP_036563
6662	1351096	Disease	p.Lys173Glu	608160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	ACAMPOMELIC CAMPOMELIC DYSPLASIA	OMIM	80	cd01389	4557853,NP_000337
6662	1351096	Disease	p.Lys173Glu	608160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	ACAMPOMELIC CAMPOMELIC DYSPLASIA	OMIM	72	cd01388	4557853,NP_000337
6662	1351096	Disease	p.His165Tyr	608160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	ACAMPOMELIC CAMPOMELIC DYSPLASIA	OMIM	72	cd01389	4557853,NP_000337
6662	1351096	Disease	p.His165Tyr	608160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	ACAMPOMELIC CAMPOMELIC DYSPLASIA	OMIM	87	smart00398	4557853,NP_000337
6662	1351096	Disease	p.His165Tyr	608160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	ACAMPOMELIC CAMPOMELIC DYSPLASIA	OMIM	64	cd01388	4557853,NP_000337
6662	1351096	Disease	p.His165Tyr	608160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	ACAMPOMELIC CAMPOMELIC DYSPLASIA	OMIM	72	cd01390	4557853,NP_000337
6662	1351096	Disease	p.His165Tyr	608160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	ACAMPOMELIC CAMPOMELIC DYSPLASIA	OMIM	79	cd00084	4557853,NP_000337
6662	1351096	Disease	p.His165Tyr	608160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	ACAMPOMELIC CAMPOMELIC DYSPLASIA	OMIM	63	pfam00505	4557853,NP_000337
6662	1351096	Disease	p.Ala76Glu	608160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	ACAMPOMELIC CAMPOMELIC DYSPLASIA	OMIM	107	pfam12444	4557853,NP_000337
6662	1351096	Disease	p.Phe154Leu	608160.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	CAMPOMELIC DYSPLASIA	OMIM	61	cd01389	4557853,NP_000337
6662	1351096	Disease	p.Phe154Leu	608160.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	CAMPOMELIC DYSPLASIA	OMIM	71	smart00398	4557853,NP_000337
6662	1351096	Disease	p.Phe154Leu	608160.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	CAMPOMELIC DYSPLASIA	OMIM	53	cd01388	4557853,NP_000337
6662	1351096	Disease	p.Phe154Leu	608160.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	CAMPOMELIC DYSPLASIA	OMIM	61	cd01390	4557853,NP_000337
6662	1351096	Disease	p.Phe154Leu	608160.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	CAMPOMELIC DYSPLASIA	OMIM	68	cd00084	4557853,NP_000337
6662	1351096	Disease	p.Phe154Leu	608160.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	CAMPOMELIC DYSPLASIA	OMIM	52	pfam00505	4557853,NP_000337
6662	1351096	Disease	p.Ala158Thr	608160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL	OMIM	65	cd01389	4557853,NP_000337
6662	1351096	Disease	p.Ala158Thr	608160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL	OMIM	75	smart00398	4557853,NP_000337
6662	1351096	Disease	p.Ala158Thr	608160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL	OMIM	57	cd01388	4557853,NP_000337
6662	1351096	Disease	p.Ala158Thr	608160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL	OMIM	65	cd01390	4557853,NP_000337
6662	1351096	Disease	p.Ala158Thr	608160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL	OMIM	72	cd00084	4557853,NP_000337
6662	1351096	Disease	p.Ala158Thr	608160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608160	CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL	OMIM	56	pfam00505	4557853,NP_000337
123606	214010179	Disease	p.Thr45Arg	608145.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608145	SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT	OMIM	105	pfam05653	NULL
123606	73921215	Disease	p.Thr45Arg	608145.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608145	SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT	OMIM	22	pfam05653	41406091,NP_653200
123606	214010179	Disease	p.Gly106Arg	608145.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608145	SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT	OMIM	166	pfam05653	NULL
123606	73921215	Disease	p.Gly106Arg	608145.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608145	SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT	OMIM	91	pfam05653	41406091,NP_653200
123606	214010179	Disease	p.Gly106Arg	608145.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608145	SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT	OMIM	166	pfam05653	NULL
123606	73921215	Disease	p.Gly106Arg	608145.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608145	SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT	OMIM	91	pfam05653	41406091,NP_653200
123606	214010179	Disease	p.Gly106Arg	608145.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608145	SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT	OMIM	166	pfam05653	NULL
123606	73921215	Disease	p.Gly106Arg	608145.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608145	SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT	OMIM	91	pfam05653	41406091,NP_653200
26012	71152011	Disease	p.Thr480Ala	608137.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608137	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	195972909,NP_001124441
26012	195972913	Disease	p.Thr480Ala	608137.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608137	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
26012	46397396	Disease	p.Thr480Ala	608137.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608137	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
26012	296010809	Disease	p.Thr480Ala	608137.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608137	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
26012	195972911	Disease	p.Thr480Ala	608137.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608137	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
9639	62548864	Disease	p.Thr109Ile	608136.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608136	SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
123016	38146012	Disease	p.Thr153Thr	608132.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608132	BARDET-BIEDL SYNDROME 8	OMIM	No Domain	N/A	NULL
123016	53759120	Disease	p.Thr153Thr	608132.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608132	BARDET-BIEDL SYNDROME 8	OMIM	No Domain	N/A	NULL
123016	38146008	Disease	p.Thr153Thr	608132.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608132	BARDET-BIEDL SYNDROME 8	OMIM	No Domain	N/A	NULL
64132	126302616	Disease	p.Thr801Arg	608125.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608125	PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF	OMIM	No Domain	N/A	110611246,NP_071450
64131	71164803	Disease	p.Ala115Ser	608124.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608124	PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF	OMIM	No Domain	N/A	28269693,NP_071449
80324	70166599	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	61	cd02570	NULL
80324	70166599	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	68	cd02568	NULL
80324	70166599	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	51	cd02866	NULL
80324	70166599	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	68	cd02569	NULL
80324	70166599	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	221	pfam01416	NULL
80324	70166599	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	66	COG0101	NULL
80324	70166599	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	66	cd00497	NULL
80324	70166634	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	61	cd02570	NULL
80324	70166634	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	68	cd02568	NULL
80324	70166634	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	51	cd02866	NULL
80324	70166634	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	68	cd02569	NULL
80324	70166634	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	221	pfam01416	NULL
80324	70166634	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	66	COG0101	NULL
80324	70166634	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	66	cd00497	NULL
80324	114152895	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	38	COG0101	70166645,NP_079491
80324	114152895	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	37	cd00497	70166645,NP_079491
80324	114152895	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	35	cd02570	70166645,NP_079491
80324	114152895	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	34	cd02568	70166645,NP_079491
80324	114152895	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	26	cd02866	70166645,NP_079491
80324	114152895	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	39	cd02569	70166645,NP_079491
80324	114152895	Disease	p.Arg116Trp	608109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608109	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA, 1	OMIM	56	pfam01416	70166645,NP_079491
4210	8928170	Disease	p.Met694Val	608107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	236	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Met694Val	608107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	120	pfam00622	4557743,NP_000234
4210	309384276	Disease	p.Met694Val	608107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	No Domain	N/A	NULL
4210	8928170	Disease	p.Met694Ile	608107.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	236	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Met694Ile	608107.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	120	pfam00622	4557743,NP_000234
4210	309384276	Disease	p.Met694Ile	608107.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	No Domain	N/A	NULL
4210	8928170	Disease	p.Val726Ala	608107.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	313	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Val726Ala	608107.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	168	pfam00622	4557743,NP_000234
4210	309384276	Disease	p.Val726Ala	608107.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	No Domain	N/A	NULL
4210	8928170	Disease	p.Glu148Gln	608107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	No Domain	N/A	4557743,NP_000234
4210	309384276	Disease	p.Glu148Gln	608107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	No Domain	N/A	NULL
4210	8928170	Disease	p.Glu167Asp	608107.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	No Domain	N/A	4557743,NP_000234
4210	309384276	Disease	p.Glu167Asp	608107.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	9	smart00336	NULL
4210	309384276	Disease	p.Glu167Asp	608107.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	11	pfam00643	NULL
4210	309384276	Disease	p.Glu167Asp	608107.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	6	cd00021	NULL
4210	8928170	Disease	p.Thr267Ile	608107.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	No Domain	N/A	4557743,NP_000234
4210	309384276	Disease	p.Thr267Ile	608107.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	No Domain	N/A	NULL
4210	8928170	Disease	p.Phe479Leu	608107.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	No Domain	N/A	4557743,NP_000234
4210	309384276	Disease	p.Phe479Leu	608107.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	No Domain	N/A	NULL
4210	8928170	Disease	p.Lys695Arg	608107.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	237	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Lys695Arg	608107.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	121	pfam00622	4557743,NP_000234
4210	309384276	Disease	p.Lys695Arg	608107.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	No Domain	N/A	NULL
4210	8928170	Disease	p.Ala744Ser	608107.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	494	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Ala744Ser	608107.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	196	pfam00622	4557743,NP_000234
4210	309384276	Disease	p.Ala744Ser	608107.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	No Domain	N/A	NULL
4210	8928170	Disease	p.Arg761His	608107.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	532	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Arg761His	608107.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	217	pfam00622	4557743,NP_000234
4210	309384276	Disease	p.Arg761His	608107.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	No Domain	N/A	NULL
4210	8928170	Disease	p.Pro369Ser	608107.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	No Domain	N/A	4557743,NP_000234
4210	309384276	Disease	p.Pro369Ser	608107.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	No Domain	N/A	NULL
4210	8928170	Disease	p.Arg408Gln	608107.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	44	cd00021	4557743,NP_000234
4210	8928170	Disease	p.Arg408Gln	608107.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	54	smart00336	4557743,NP_000234
4210	8928170	Disease	p.Arg408Gln	608107.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	64	pfam00643	4557743,NP_000234
4210	309384276	Disease	p.Arg408Gln	608107.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	No Domain	N/A	NULL
4210	8928170	Disease	p.Arg653His	608107.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	4	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Arg653His	608107.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	4	pfam00622	4557743,NP_000234
4210	309384276	Disease	p.Arg653His	608107.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	No Domain	N/A	NULL
4210	8928170	Disease	p.Glu148Val	608107.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	No Domain	N/A	4557743,NP_000234
4210	309384276	Disease	p.Glu148Val	608107.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER	OMIM	No Domain	N/A	NULL
4210	8928170	Disease	p.Glu148Gln	608107.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	4557743,NP_000234
4210	309384276	Disease	p.Glu148Gln	608107.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
4210	8928170	Disease	p.His478Tyr	608107.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	4557743,NP_000234
4210	309384276	Disease	p.His478Tyr	608107.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608107	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
79053	143811361	Disease	p.Thr47Pro	608103.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608103	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih	OMIM	37	pfam03155	56121818,NP_076984
79053	57165415	Disease	p.Thr47Pro	608103.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608103	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih	OMIM	37	pfam03155	NULL
79053	143811361	Disease	p.Gly275Asp	608103.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608103	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih	OMIM	287	pfam03155	56121818,NP_076984
79053	57165415	Disease	p.Gly275Asp	608103.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608103	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih	OMIM	287	pfam03155	NULL
1203	5729772	Disease	p.Asp279Asn	608102.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608102	CEROID LIPOFUSCINOSIS, NEURONAL, 5	OMIM	No Domain	N/A	NULL
1203	5729772	Disease	p.Arg112His	608102.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608102	CEROID LIPOFUSCINOSIS, NEURONAL, 5	OMIM	No Domain	N/A	NULL
1203	5729772	Disease	p.Cys126Tyr	608102.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608102	CEROID LIPOFUSCINOSIS, NEURONAL, 5	OMIM	No Domain	N/A	NULL
1203	5729772	Disease	p.Tyr374Cys	608102.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608102	CEROID LIPOFUSCINOSIS, NEURONAL, 5	OMIM	No Domain	N/A	NULL
344	114022	Disease	p.Lys55Gln	608083.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608083	APOLIPOPROTEIN C-II (AFRICAN)	OMIM	32	pfam05355	32130518,NP_000474
344	114022	Disease	p.Met1Val	608083.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608083	APOLIPOPROTEIN C-II (PARIS)||HYPERLIPOPROTEINEMIA, TYPE IB	OMIM	No Domain	N/A	32130518,NP_000474
344	114022	Disease	p.Lys19Thr	608083.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608083	APOLIPOPROTEIN C-II VARIANT	OMIM	No Domain	N/A	32130518,NP_000474
344	114022	Disease	p.Glu38Lys	608083.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608083	APOLIPOPROTEIN C-II (SAN FRANCISCO)	OMIM	15	pfam05355	32130518,NP_000474
344	114022	Disease	p.Trp26Arg	608083.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608083	APOLIPOPROTEIN C-II (WAKAYAMA)||HYPERLIPOPROTEINEMIA, TYPE IB	OMIM	3	pfam05355	32130518,NP_000474
378884	50400890	Disease	p.Cys26Ser	608072.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608072	EPILEPSY, PROGRESSIVE MYOCLONIC 2B	OMIM	2	cd00162	40255283,NP_940988
378884	50400890	Disease	p.Pro69Ala	608072.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608072	EPILEPSY, PROGRESSIVE MYOCLONIC 2B	OMIM	98	cd00162	40255283,NP_940988
378884	50400890	Disease	p.Pro69Ala	608072.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608072	EPILEPSY, PROGRESSIVE MYOCLONIC 2B	OMIM	107	smart00184	40255283,NP_940988
378884	50400890	Disease	p.Ile198Asn	608072.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608072	EPILEPSY, PROGRESSIVE MYOCLONIC 2B	OMIM	No Domain	N/A	40255283,NP_940988
378884	50400890	Disease	p.Asp308Ala	608072.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608072	EPILEPSY, PROGRESSIVE MYOCLONIC 2B	OMIM	No Domain	N/A	40255283,NP_940988
2108	119636	Disease	p.Val157Gly	608053.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608053	GLUTARIC ACIDURIA IIA	OMIM	173	cd01715	4503607,NP_000117
2108	119636	Disease	p.Val157Gly	608053.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608053	GLUTARIC ACIDURIA IIA	OMIM	214	cd01985	4503607,NP_000117
2108	119636	Disease	p.Val157Gly	608053.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608053	GLUTARIC ACIDURIA IIA	OMIM	310	pfam01012	4503607,NP_000117
2108	119636	Disease	p.Val157Gly	608053.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608053	GLUTARIC ACIDURIA IIA	OMIM	214	COG2025	4503607,NP_000117
2108	189181759	Disease	p.Val157Gly	608053.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608053	GLUTARIC ACIDURIA IIA	OMIM	272	COG2025	NULL
2108	119636	Disease	p.Thr266Met	608053.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608053	GLUTARIC ACIDURIA IIA	OMIM	74	pfam00766	4503607,NP_000117
2108	119636	Disease	p.Thr266Met	608053.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608053	GLUTARIC ACIDURIA IIA	OMIM	334	COG2025	4503607,NP_000117
2108	189181759	Disease	p.Thr266Met	608053.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608053	GLUTARIC ACIDURIA IIA	OMIM	383	COG2025	NULL
2108	119636	Disease	p.Gly116Arg	608053.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608053	GLUTARIC ACIDURIA IIA	OMIM	113	cd01715	4503607,NP_000117
2108	119636	Disease	p.Gly116Arg	608053.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608053	GLUTARIC ACIDURIA IIA	OMIM	151	cd01985	4503607,NP_000117
2108	119636	Disease	p.Gly116Arg	608053.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608053	GLUTARIC ACIDURIA IIA	OMIM	197	pfam01012	4503607,NP_000117
2108	119636	Disease	p.Gly116Arg	608053.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608053	GLUTARIC ACIDURIA IIA	OMIM	166	COG2025	4503607,NP_000117
2108	189181759	Disease	p.Gly116Arg	608053.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608053	GLUTARIC ACIDURIA IIA	OMIM	183	cd01715	NULL
2108	189181759	Disease	p.Gly116Arg	608053.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608053	GLUTARIC ACIDURIA IIA	OMIM	223	COG2025	NULL
2108	189181759	Disease	p.Gly116Arg	608053.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608053	GLUTARIC ACIDURIA IIA	OMIM	322	pfam01012	NULL
2108	189181759	Disease	p.Gly116Arg	608053.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608053	GLUTARIC ACIDURIA IIA	OMIM	224	cd01985	NULL
118429	306526289	Disease	p.Tyr381Cys	608041.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	No Domain	N/A	224809466,NP_001139266
118429	50513243	Disease	p.Tyr381Cys	608041.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	No Domain	N/A	NULL
118429	306526289	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	223	smart00327	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	75	cd01474	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	156	cd00198	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	65_G	cd01465	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	65	cd01469	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	67	cd01471	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	111	cd01450	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	74	cd01476	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	89	cd01472	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	100	pfam00092	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	94	cd01480	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	75	cd01467	224809466,NP_001139266
118429	50513243	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	223	smart00327	NULL
118429	50513243	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	75	cd01474	NULL
118429	50513243	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	156	cd00198	NULL
118429	50513243	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	65_G	cd01465	NULL
118429	50513243	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	65	cd01469	NULL
118429	50513243	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	67	cd01471	NULL
118429	50513243	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	111	cd01450	NULL
118429	50513243	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	74	cd01476	NULL
118429	50513243	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	89	cd01472	NULL
118429	50513243	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	100	pfam00092	NULL
118429	50513243	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	94	cd01480	NULL
118429	50513243	Disease	p.Gly105Asp	608041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	75	cd01467	NULL
118429	306526289	Disease	p.Leu329Arg	608041.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	No Domain	N/A	224809466,NP_001139266
118429	50513243	Disease	p.Leu329Arg	608041.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	JUVENILE HYALINE FIBROMATOSIS	OMIM	No Domain	N/A	NULL
118429	306526289	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	628	smart00327	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	166	cd01474	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	331	cd00198	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	156	cd01465	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	163	cd01469	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	157	cd01471	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	265	cd01450	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	167	cd01476	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	198	cd01472	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	250	pfam00092	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	199	cd01480	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	179	cd01467	224809466,NP_001139266
118429	50513243	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	628	smart00327	NULL
118429	50513243	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	166	cd01474	NULL
118429	50513243	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	331	cd00198	NULL
118429	50513243	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	156	cd01465	NULL
118429	50513243	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	163	cd01469	NULL
118429	50513243	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	157	cd01471	NULL
118429	50513243	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	265	cd01450	NULL
118429	50513243	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	167	cd01476	NULL
118429	50513243	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	198	cd01472	NULL
118429	50513243	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	250	pfam00092	NULL
118429	50513243	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	199	cd01480	NULL
118429	50513243	Disease	p.Ile189Thr	608041.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608041	INFANTILE SYSTEMIC HYALINOSIS	OMIM	179	cd01467	NULL
443	1168340	Disease	p.Glu285Ala	608034.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	328	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu285Ala	608034.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	349	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu285Ala	608034.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	305	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu285Ala	608034.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	430	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu285Ala	608034.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	328	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu285Ala	608034.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	349	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu285Ala	608034.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	305	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu285Ala	608034.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	430	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Arg	608034.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	191	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Arg	608034.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	189	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Arg	608034.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	147	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Arg	608034.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	439	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Arg	608034.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	199	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Arg	608034.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	191	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Arg	608034.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	189	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Arg	608034.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	147	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Arg	608034.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	439	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Arg	608034.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	199	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ala305Glu	608034.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	No Domain	N/A	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ala305Glu	608034.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	No Domain	N/A	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Tyr231Cys	608034.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	274	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Tyr231Cys	608034.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	289	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Tyr231Cys	608034.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	243	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Tyr231Cys	608034.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	335	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Tyr231Cys	608034.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	274	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Tyr231Cys	608034.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	289	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Tyr231Cys	608034.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	243	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Tyr231Cys	608034.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	335	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu24Gly	608034.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	61	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu24Gly	608034.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	15	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu24Gly	608034.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	13	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu24Gly	608034.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	11	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu24Gly	608034.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	11	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu24Gly	608034.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	61	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu24Gly	608034.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	15	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu24Gly	608034.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	13	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu24Gly	608034.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	11	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu24Gly	608034.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	11	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp249Val	608034.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	292	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp249Val	608034.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	310	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp249Val	608034.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	262	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp249Val	608034.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	373	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp249Val	608034.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	292	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp249Val	608034.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	310	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp249Val	608034.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	262	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp249Val	608034.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE	OMIM	373	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Arg71His	608034.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE, MILD	OMIM	109	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Arg71His	608034.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE, MILD	OMIM	101	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Arg71His	608034.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE, MILD	OMIM	62	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Arg71His	608034.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE, MILD	OMIM	170	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Arg71His	608034.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE, MILD	OMIM	79	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Arg71His	608034.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE, MILD	OMIM	109	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Arg71His	608034.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE, MILD	OMIM	101	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Arg71His	608034.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE, MILD	OMIM	62	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Arg71His	608034.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE, MILD	OMIM	170	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Arg71His	608034.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608034	CANAVAN DISEASE, MILD	OMIM	79	cd06230	189339202,NP_001121557|4557335,NP_000040
26353	13431576	Disease	p.Lys141Asn	608014.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	54	cd06478	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	57	cd06475	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	57	cd06497	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	68	pfam00011	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	54	cd06498	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	62	cd06480	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	142	cd06464	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	78	cd06526	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	60	cd06481	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	55	cd06476	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	52	cd06479	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	54	cd06477	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	153	cd00298	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	608014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	54	cd06478	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	608014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	57	cd06475	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	608014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	57	cd06497	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	608014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	68	pfam00011	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	608014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	54	cd06498	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	608014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	62	cd06480	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	608014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	142	cd06464	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	608014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	78	cd06526	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	608014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	60	cd06481	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	608014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	55	cd06476	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	608014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	52	cd06479	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	608014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	54	cd06477	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	608014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	OMIM	153	cd00298	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L	OMIM	54	cd06478	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L	OMIM	57	cd06475	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L	OMIM	57	cd06497	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L	OMIM	68	pfam00011	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L	OMIM	54	cd06498	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L	OMIM	62	cd06480	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L	OMIM	142	cd06464	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L	OMIM	78	cd06526	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L	OMIM	60	cd06481	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L	OMIM	55	cd06476	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L	OMIM	52	cd06479	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L	OMIM	54	cd06477	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	608014.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608014	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L	OMIM	153	cd00298	7657146,NP_055180
29881	156231351	Disease	p.Val55Leu	608010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608010	EZETIMIBE, NONRESPONSE TO	OMIM	No Domain	N/A	NULL
29881	156231353	Disease	p.Val55Leu	608010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608010	EZETIMIBE, NONRESPONSE TO	OMIM	No Domain	N/A	NULL
29881	156231351	Disease	p.Ile1233Asn	608010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608010	EZETIMIBE, NONRESPONSE TO	OMIM	962	pfam02460	NULL
29881	156231353	Disease	p.Ile1233Asn	608010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608010	EZETIMIBE, NONRESPONSE TO	OMIM	988	pfam02460	NULL
64374	74733533	Disease	p.Leu457Pro	608005.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608005	MARINESCO-SJOGREN SYNDROME	OMIM	No Domain	N/A	11968009,NP_071909|83641896,NP_001032722
64374	74733533	Disease	p.Leu457Pro	608005.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608005	MARINESCO-SJOGREN SYNDROME	OMIM	No Domain	N/A	11968009,NP_071909|83641896,NP_001032722
27031	68565783	Disease	p.Ser360Thr	608002.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608002	NEPHRONOPHTHISIS 3	OMIM	No Domain	N/A	34304360,NP_694972
27031	68565783	Disease	p.Arg973Gln	608002.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608002	RENAL-HEPATIC-PANCREATIC DYSPLASIA	OMIM	36_G	cd00189	34304360,NP_694972
27031	68565783	Disease	p.Arg973Gln	608002.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608002	RENAL-HEPATIC-PANCREATIC DYSPLASIA	OMIM	172	COG0457	34304360,NP_694972
65057	130979214	Disease	p.Cys365Arg	607998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607998	CEROID LIPOFUSCINOSIS, NEURONAL, 2	OMIM	No Domain	N/A	NULL
65057	130978962	Disease	p.Cys365Arg	607998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607998	CEROID LIPOFUSCINOSIS, NEURONAL, 2	OMIM	No Domain	N/A	NULL
65057	296439451	Disease	p.Cys365Arg	607998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607998	CEROID LIPOFUSCINOSIS, NEURONAL, 2	OMIM	No Domain	N/A	130978956,NP_001075955
65057	130979214	Disease	p.Cys365Tyr	607998.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607998	CEROID LIPOFUSCINOSIS, NEURONAL, 2	OMIM	No Domain	N/A	NULL
65057	130978962	Disease	p.Cys365Tyr	607998.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607998	CEROID LIPOFUSCINOSIS, NEURONAL, 2	OMIM	No Domain	N/A	NULL
65057	296439451	Disease	p.Cys365Tyr	607998.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607998	CEROID LIPOFUSCINOSIS, NEURONAL, 2	OMIM	No Domain	N/A	130978956,NP_001075955
65057	130979214	Disease	p.Arg447His	607998.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607998	CEROID LIPOFUSCINOSIS, NEURONAL, 2	OMIM	No Domain	N/A	NULL
65057	130978962	Disease	p.Arg447His	607998.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607998	CEROID LIPOFUSCINOSIS, NEURONAL, 2	OMIM	No Domain	N/A	NULL
65057	296439451	Disease	p.Arg447His	607998.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607998	CEROID LIPOFUSCINOSIS, NEURONAL, 2	OMIM	No Domain	N/A	130978956,NP_001075955
65057	130979214	Disease	p.Arg206Cys	607998.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607998	CEROID LIPOFUSCINOSIS, NEURONAL, 2	OMIM	122	pfam11509	NULL
65057	130978962	Disease	p.Arg206Cys	607998.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607998	CEROID LIPOFUSCINOSIS, NEURONAL, 2	OMIM	122	pfam11509	NULL
65057	296439451	Disease	p.Arg206Cys	607998.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607998	CEROID LIPOFUSCINOSIS, NEURONAL, 2	OMIM	119	pfam11509	130978956,NP_001075955
65057	130979214	Disease	p.Gly284Val	607998.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607998	CEROID LIPOFUSCINOSIS, NEURONAL, 2	OMIM	No Domain	N/A	NULL
65057	130978962	Disease	p.Gly284Val	607998.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607998	CEROID LIPOFUSCINOSIS, NEURONAL, 2	OMIM	No Domain	N/A	NULL
65057	296439451	Disease	p.Gly284Val	607998.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607998	CEROID LIPOFUSCINOSIS, NEURONAL, 2	OMIM	No Domain	N/A	130978956,NP_001075955
65057	130979214	Disease	p.Asn286Ser	607998.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607998	CEROID LIPOFUSCINOSIS, NEURONAL, 2	OMIM	No Domain	N/A	NULL
65057	130978962	Disease	p.Asn286Ser	607998.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607998	CEROID LIPOFUSCINOSIS, NEURONAL, 2	OMIM	No Domain	N/A	NULL
65057	296439451	Disease	p.Asn286Ser	607998.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607998	CEROID LIPOFUSCINOSIS, NEURONAL, 2	OMIM	No Domain	N/A	130978956,NP_001075955
84701	73620953	Disease	p.Glu138Lys	607976.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607976	EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS	OMIM	126	cd00922	17999526,NP_115998
84701	73620953	Disease	p.Glu138Lys	607976.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607976	EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS	OMIM	112	pfam02936	17999526,NP_115998
27241	38569432	Disease	p.Gly141Arg	607968.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607968	BARDET-BIEDL SYNDROME 9	OMIM	No Domain	N/A	NULL
27241	97180305	Disease	p.Gly141Arg	607968.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607968	BARDET-BIEDL SYNDROME 9	OMIM	No Domain	N/A	38569434,NP_940820
27241	75905801	Disease	p.Gly141Arg	607968.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607968	BARDET-BIEDL SYNDROME 9	OMIM	No Domain	N/A	NULL
27241	75905803	Disease	p.Gly141Arg	607968.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607968	BARDET-BIEDL SYNDROME 9	OMIM	No Domain	N/A	NULL
285362	257470977	Disease	p.Arg349Trp	607939.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	485	COG1262	NULL
285362	257470975	Disease	p.Arg349Trp	607939.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	No Domain	N/A	NULL
285362	62298562	Disease	p.Arg349Trp	607939.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	462	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Arg349Trp	607939.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	377	pfam03781	38202250,NP_877437
285362	257470977	Disease	p.Arg349Gln	607939.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	485	COG1262	NULL
285362	257470975	Disease	p.Arg349Gln	607939.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	No Domain	N/A	NULL
285362	62298562	Disease	p.Arg349Gln	607939.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	462	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Arg349Gln	607939.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	377	pfam03781	38202250,NP_877437
285362	257470977	Disease	p.Cys336Arg	607939.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	469	COG1262	NULL
285362	257470977	Disease	p.Cys336Arg	607939.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	387	pfam03781	NULL
285362	257470975	Disease	p.Cys336Arg	607939.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	477	COG1262	NULL
285362	257470975	Disease	p.Cys336Arg	607939.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	392	pfam03781	NULL
285362	62298562	Disease	p.Cys336Arg	607939.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	444	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Cys336Arg	607939.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	362	pfam03781	38202250,NP_877437
285362	257470977	Disease	p.Ala279Val	607939.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	355	COG1262	NULL
285362	257470977	Disease	p.Ala279Val	607939.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	284	pfam03781	NULL
285362	257470975	Disease	p.Ala279Val	607939.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	383	COG1262	NULL
285362	257470975	Disease	p.Ala279Val	607939.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	311	pfam03781	NULL
285362	62298562	Disease	p.Ala279Val	607939.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	355	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Ala279Val	607939.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	284	pfam03781	38202250,NP_877437
285362	257470977	Disease	p.Ser155Pro	607939.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	204	COG1262	NULL
285362	257470977	Disease	p.Ser155Pro	607939.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	91	pfam03781	NULL
285362	257470975	Disease	p.Ser155Pro	607939.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	223	COG1262	NULL
285362	257470975	Disease	p.Ser155Pro	607939.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	132	pfam03781	NULL
285362	62298562	Disease	p.Ser155Pro	607939.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	204	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Ser155Pro	607939.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	91	pfam03781	38202250,NP_877437
285362	257470977	Disease	p.Met1Arg	607939.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	No Domain	N/A	NULL
285362	257470975	Disease	p.Met1Arg	607939.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	No Domain	N/A	NULL
285362	62298562	Disease	p.Met1Arg	607939.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	No Domain	N/A	38202250,NP_877437
285362	257470977	Disease	p.Arg345Cys	607939.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	481	COG1262	NULL
285362	257470977	Disease	p.Arg345Cys	607939.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	396	pfam03781	NULL
285362	257470975	Disease	p.Arg345Cys	607939.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	No Domain	N/A	NULL
285362	62298562	Disease	p.Arg345Cys	607939.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	458	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Arg345Cys	607939.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	373	pfam03781	38202250,NP_877437
285362	257470977	Disease	p.Ala348Pro	607939.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	484	COG1262	NULL
285362	257470975	Disease	p.Ala348Pro	607939.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	No Domain	N/A	NULL
285362	62298562	Disease	p.Ala348Pro	607939.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	461	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Ala348Pro	607939.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	376	pfam03781	38202250,NP_877437
285362	257470977	Disease	p.Cys218Tyr	607939.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	271	COG1262	NULL
285362	257470977	Disease	p.Cys218Tyr	607939.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	170	pfam03781	NULL
285362	257470975	Disease	p.Cys218Tyr	607939.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	307	COG1262	NULL
285362	257470975	Disease	p.Cys218Tyr	607939.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	237	pfam03781	NULL
285362	62298562	Disease	p.Cys218Tyr	607939.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	271	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Cys218Tyr	607939.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	170	pfam03781	38202250,NP_877437
285362	257470977	Disease	p.Met1Val	607939.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	No Domain	N/A	NULL
285362	257470975	Disease	p.Met1Val	607939.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	No Domain	N/A	NULL
285362	62298562	Disease	p.Met1Val	607939.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607939	MULTIPLE SULFATASE DEFICIENCY	OMIM	No Domain	N/A	38202250,NP_877437
83605	269308190	Disease	p.Met1Val	607929.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607929	CEREBRAL CAVERNOUS MALFORMATIONS 2	OMIM	No Domain	N/A	NULL
83605	71067341	Disease	p.Met1Val	607929.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607929	CEREBRAL CAVERNOUS MALFORMATIONS 2	OMIM	No Domain	N/A	NULL
83605	269308188	Disease	p.Met1Val	607929.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607929	CEREBRAL CAVERNOUS MALFORMATIONS 2	OMIM	No Domain	N/A	NULL
83605	74733042	Disease	p.Met1Val	607929.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607929	CEREBRAL CAVERNOUS MALFORMATIONS 2	OMIM	No Domain	N/A	13899275,NP_113631
83605	269308190	Disease	p.Leu198Arg	607929.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607929	CEREBRAL CAVERNOUS MALFORMATIONS 2	OMIM	No Domain	N/A	NULL
83605	71067341	Disease	p.Leu198Arg	607929.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607929	CEREBRAL CAVERNOUS MALFORMATIONS 2	OMIM	300	smart00462	NULL
83605	269308188	Disease	p.Leu198Arg	607929.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607929	CEREBRAL CAVERNOUS MALFORMATIONS 2	OMIM	No Domain	N/A	NULL
83605	74733042	Disease	p.Leu198Arg	607929.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607929	CEREBRAL CAVERNOUS MALFORMATIONS 2	OMIM	321	smart00462	13899275,NP_113631
53947	25452796	Disease	p.Met183Lys	607922.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607922	P BLOOD GROUP SYSTEM, p PHENOTYPE	OMIM	108	pfam04488	8392830,NP_059132
53947	25452796	Disease	p.Pro251Leu	607922.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607922	P BLOOD GROUP SYSTEM, p PHENOTYPE	OMIM	34	pfam04572	8392830,NP_059132
53947	25452796	Disease	p.Gly187Asp	607922.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607922	P BLOOD GROUP SYSTEM, p PHENOTYPE	OMIM	112	pfam04488	8392830,NP_059132
8912	53832011	Disease	p.Phe161Leu	607904.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607904	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6	OMIM	24	pfam00520	NULL
8912	23503045	Disease	p.Phe161Leu	607904.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607904	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6	OMIM	24	pfam00520	53832009,NP_066921
8912	53832011	Disease	p.Glu282Lys	607904.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607904	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6	OMIM	229	pfam00520	NULL
8912	23503045	Disease	p.Glu282Lys	607904.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607904	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6	OMIM	229	pfam00520	53832009,NP_066921
8912	53832011	Disease	p.Val831Met	607904.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607904	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6	OMIM	5	pfam00520	NULL
8912	23503045	Disease	p.Val831Met	607904.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607904	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6	OMIM	5	pfam00520	53832009,NP_066921
8912	53832011	Disease	p.Gly773Asp	607904.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607904	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6	OMIM	No Domain	N/A	NULL
8912	23503045	Disease	p.Gly773Asp	607904.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607904	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6	OMIM	No Domain	N/A	53832009,NP_066921
8912	53832011	Disease	p.Pro618Leu	607904.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607904	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6	OMIM	No Domain	N/A	NULL
8912	23503045	Disease	p.Pro618Leu	607904.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607904	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6	OMIM	No Domain	N/A	53832009,NP_066921
8912	53832011	Disease	p.Ala876Thr	607904.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607904	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6	OMIM	122	pfam00520	NULL
8912	23503045	Disease	p.Ala876Thr	607904.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607904	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6	OMIM	122	pfam00520	53832009,NP_066921
147409	60389774	Disease	p.Ser192Pro	607892.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607892	MONILETHRIX-LIKE HYPOTRICHOSIS, AUTOSOMAL RECESSIVE	OMIM	12	smart00112	29789445,NP_817123
147409	60389774	Disease	p.Ser192Pro	607892.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607892	MONILETHRIX-LIKE HYPOTRICHOSIS, AUTOSOMAL RECESSIVE	OMIM	248	cd00031	29789445,NP_817123
147409	60389774	Disease	p.Ser192Pro	607892.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607892	MONILETHRIX-LIKE HYPOTRICHOSIS, AUTOSOMAL RECESSIVE	OMIM	34	pfam00028	29789445,NP_817123
147409	197313787	Disease	p.Ser192Pro	607892.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607892	MONILETHRIX-LIKE HYPOTRICHOSIS, AUTOSOMAL RECESSIVE	OMIM	12	smart00112	NULL
147409	197313787	Disease	p.Ser192Pro	607892.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607892	MONILETHRIX-LIKE HYPOTRICHOSIS, AUTOSOMAL RECESSIVE	OMIM	248	cd00031	NULL
147409	197313787	Disease	p.Ser192Pro	607892.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607892	MONILETHRIX-LIKE HYPOTRICHOSIS, AUTOSOMAL RECESSIVE	OMIM	34	pfam00028	NULL
147409	60389774	Disease	p.Pro267Arg	607892.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607892	MONILETHRIX-LIKE HYPOTRICHOSIS, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	29789445,NP_817123
147409	197313787	Disease	p.Pro267Arg	607892.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607892	MONILETHRIX-LIKE HYPOTRICHOSIS, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
7439	212720889	Disease	p.Trp93Cys	607854.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BEST MACULAR DYSTROPHY	OMIM	315	pfam01062	NULL
7439	6175195	Disease	p.Trp93Cys	607854.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BEST MACULAR DYSTROPHY	OMIM	120	pfam01062	4759310,NP_004174
7439	212720889	Disease	p.Tyr85His	607854.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BEST MACULAR DYSTROPHY	OMIM	307	pfam01062	NULL
7439	6175195	Disease	p.Tyr85His	607854.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BEST MACULAR DYSTROPHY	OMIM	112	pfam01062	4759310,NP_004174
7439	212720889	Disease	p.Gly299Glu	607854.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BEST MACULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
7439	6175195	Disease	p.Gly299Glu	607854.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BEST MACULAR DYSTROPHY	OMIM	547	pfam01062	4759310,NP_004174
7439	212720889	Disease	p.Tyr227Asn	607854.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BEST MACULAR DYSTROPHY	OMIM	535	pfam01062	NULL
7439	6175195	Disease	p.Tyr227Asn	607854.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BEST MACULAR DYSTROPHY	OMIM	410	pfam01062	4759310,NP_004174
7439	212720889	Disease	p.Thr6Pro	607854.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BEST MACULAR DYSTROPHY||VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET||BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL	OMIM	81	pfam01062	NULL
7439	6175195	Disease	p.Thr6Pro	607854.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BEST MACULAR DYSTROPHY||VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET||BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL	OMIM	No Domain	N/A	4759310,NP_004174
7439	212720889	Disease	p.Val9Met	607854.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BEST MACULAR DYSTROPHY	OMIM	91	pfam01062	NULL
7439	6175195	Disease	p.Val9Met	607854.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BEST MACULAR DYSTROPHY	OMIM	No Domain	N/A	4759310,NP_004174
7439	212720889	Disease	p.Glu119Gln	607854.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	MACULOPATHY, BULL'S-EYE	OMIM	354	pfam01062	NULL
7439	6175195	Disease	p.Glu119Gln	607854.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	MACULOPATHY, BULL'S-EYE	OMIM	164	pfam01062	4759310,NP_004174
7439	212720889	Disease	p.Ala146Lys	607854.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET	OMIM	389	pfam01062	NULL
7439	6175195	Disease	p.Ala146Lys	607854.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET	OMIM	308	pfam01062	4759310,NP_004174
7439	212720889	Disease	p.Ala243Val	607854.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BEST MACULAR DYSTROPHY||VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET	OMIM	552	pfam01062	NULL
7439	6175195	Disease	p.Ala243Val	607854.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BEST MACULAR DYSTROPHY||VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET	OMIM	426	pfam01062	4759310,NP_004174
7439	212720889	Disease	p.Arg47His	607854.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET	OMIM	134	pfam01062	NULL
7439	6175195	Disease	p.Arg47His	607854.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET	OMIM	30	pfam01062	4759310,NP_004174
7439	212720889	Disease	p.Arg141His	607854.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BEST MACULAR DYSTROPHY||BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	OMIM	383	pfam01062	NULL
7439	6175195	Disease	p.Arg141His	607854.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BEST MACULAR DYSTROPHY||BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	OMIM	283	pfam01062	4759310,NP_004174
7439	212720889	Disease	p.Val317Met	607854.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
7439	6175195	Disease	p.Val317Met	607854.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	OMIM	566	pfam01062	4759310,NP_004174
7439	212720889	Disease	p.Leu41Pro	607854.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	OMIM	128	pfam01062	NULL
7439	6175195	Disease	p.Leu41Pro	607854.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	OMIM	24	pfam01062	4759310,NP_004174
7439	212720889	Disease	p.Val86Met	607854.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	VITREORETINOCHOROIDOPATHY	OMIM	308	pfam01062	NULL
7439	6175195	Disease	p.Val86Met	607854.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	VITREORETINOCHOROIDOPATHY	OMIM	113	pfam01062	4759310,NP_004174
7439	212720889	Disease	p.Val239Met	607854.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA	OMIM	547	pfam01062	NULL
7439	6175195	Disease	p.Val239Met	607854.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA	OMIM	422	pfam01062	4759310,NP_004174
7439	212720889	Disease	p.Tyr236Cys	607854.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	VITREORETINOCHOROIDOPATHY	OMIM	544	pfam01062	NULL
7439	6175195	Disease	p.Tyr236Cys	607854.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	VITREORETINOCHOROIDOPATHY	OMIM	419	pfam01062	4759310,NP_004174
7439	212720889	Disease	p.Ile205Thr	607854.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	RETINITIS PIGMENTOSA 50	OMIM	509	pfam01062	NULL
7439	6175195	Disease	p.Ile205Thr	607854.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	RETINITIS PIGMENTOSA 50	OMIM	388	pfam01062	4759310,NP_004174
7439	212720889	Disease	p.Asp228Asn	607854.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	RETINITIS PIGMENTOSA 50||RETINITIS PIGMENTOSA, CONCENTRIC	OMIM	536	pfam01062	NULL
7439	6175195	Disease	p.Asp228Asn	607854.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	RETINITIS PIGMENTOSA 50||RETINITIS PIGMENTOSA, CONCENTRIC	OMIM	411	pfam01062	4759310,NP_004174
7439	212720889	Disease	p.Tyr227Cys	607854.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BEST MACULAR DYSTROPHY||RETINITIS PIGMENTOSA, CONCENTRIC	OMIM	535	pfam01062	NULL
7439	6175195	Disease	p.Tyr227Cys	607854.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	BEST MACULAR DYSTROPHY||RETINITIS PIGMENTOSA, CONCENTRIC	OMIM	410	pfam01062	4759310,NP_004174
7439	212720889	Disease	p.Leu140Val	607854.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	RETINITIS PIGMENTOSA 50	OMIM	382	pfam01062	NULL
7439	6175195	Disease	p.Leu140Val	607854.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	RETINITIS PIGMENTOSA 50	OMIM	258	pfam01062	4759310,NP_004174
7439	212720889	Disease	p.Val235Ala	607854.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	VITREORETINOCHOROIDOPATHY	OMIM	543	pfam01062	NULL
7439	6175195	Disease	p.Val235Ala	607854.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607854	VITREORETINOCHOROIDOPATHY	OMIM	418	pfam01062	4759310,NP_004174
79158	90185244	Disease	p.Asp407Gly	607840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607840	MUCOLIPIDOSIS III ALPHA/BETA	OMIM	No Domain	N/A	38202211,NP_077288
79158	90185244	Disease	p.Lys4Gln	607840.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607840	MUCOLIPIDOSIS III ALPHA/BETA	OMIM	No Domain	N/A	38202211,NP_077288
79158	90185244	Disease	p.Phe374Leu	607840.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607840	MUCOLIPIDOSIS III ALPHA/BETA||MUCOLIPIDOSIS II ALPHA/BETA	OMIM	No Domain	N/A	38202211,NP_077288
2632	67465046	Disease	p.Tyr329Ser	607839.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC||ADULT POLYGLUCOSAN BODY DISEASE	OMIM	465	COG1523	189458812,NP_000149
2632	67465046	Disease	p.Tyr329Ser	607839.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC||ADULT POLYGLUCOSAN BODY DISEASE	OMIM	276	COG0366	189458812,NP_000149
2632	67465046	Disease	p.Tyr329Ser	607839.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC||ADULT POLYGLUCOSAN BODY DISEASE	OMIM	340	COG0296	189458812,NP_000149
2632	67465046	Disease	p.Tyr329Ser	607839.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC||ADULT POLYGLUCOSAN BODY DISEASE	OMIM	199	pfam00128	189458812,NP_000149
2632	67465046	Disease	p.Tyr329Ser	607839.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC||ADULT POLYGLUCOSAN BODY DISEASE	OMIM	375	smart00642	189458812,NP_000149
2632	67465046	Disease	p.Leu224Pro	607839.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC	OMIM	309	COG1523	189458812,NP_000149
2632	67465046	Disease	p.Leu224Pro	607839.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC	OMIM	78	COG0366	189458812,NP_000149
2632	67465046	Disease	p.Leu224Pro	607839.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC	OMIM	224	COG0296	189458812,NP_000149
2632	67465046	Disease	p.Leu224Pro	607839.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC	OMIM	70	smart00642	189458812,NP_000149
2632	67465046	Disease	p.Arg515Cys	607839.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CLASSIC HEPATIC||ADULT POLYGLUCOSAN BODY DISEASE	OMIM	700	COG1523	189458812,NP_000149
2632	67465046	Disease	p.Arg515Cys	607839.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CLASSIC HEPATIC||ADULT POLYGLUCOSAN BODY DISEASE	OMIM	604	COG0366	189458812,NP_000149
2632	67465046	Disease	p.Arg515Cys	607839.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CLASSIC HEPATIC||ADULT POLYGLUCOSAN BODY DISEASE	OMIM	550	COG0296	189458812,NP_000149
2632	67465046	Disease	p.Arg515Cys	607839.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CLASSIC HEPATIC||ADULT POLYGLUCOSAN BODY DISEASE	OMIM	632	smart00642	189458812,NP_000149
2632	67465046	Disease	p.Phe257Leu	607839.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CLASSIC HEPATIC	OMIM	377	COG1523	189458812,NP_000149
2632	67465046	Disease	p.Phe257Leu	607839.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CLASSIC HEPATIC	OMIM	132	COG0366	189458812,NP_000149
2632	67465046	Disease	p.Phe257Leu	607839.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CLASSIC HEPATIC	OMIM	266	COG0296	189458812,NP_000149
2632	67465046	Disease	p.Phe257Leu	607839.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CLASSIC HEPATIC	OMIM	66	pfam00128	189458812,NP_000149
2632	67465046	Disease	p.Phe257Leu	607839.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CLASSIC HEPATIC	OMIM	126	smart00642	189458812,NP_000149
2632	67465046	Disease	p.Arg524Gln	607839.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC||ADULT POLYGLUCOSAN BODY DISEASE	OMIM	709	COG1523	189458812,NP_000149
2632	67465046	Disease	p.Arg524Gln	607839.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC||ADULT POLYGLUCOSAN BODY DISEASE	OMIM	629	COG0366	189458812,NP_000149
2632	67465046	Disease	p.Arg524Gln	607839.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC||ADULT POLYGLUCOSAN BODY DISEASE	OMIM	559	COG0296	189458812,NP_000149
2632	67465046	Disease	p.Arg524Gln	607839.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC||ADULT POLYGLUCOSAN BODY DISEASE	OMIM	642	smart00642	189458812,NP_000149
2632	67465046	Disease	p.His545Arg	607839.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR	OMIM	754_G	COG1523	189458812,NP_000149
2632	67465046	Disease	p.His545Arg	607839.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR	OMIM	650	COG0366	189458812,NP_000149
2632	67465046	Disease	p.His545Arg	607839.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR	OMIM	581	COG0296	189458812,NP_000149
2632	67465046	Disease	p.His545Arg	607839.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR	OMIM	703	smart00642	189458812,NP_000149
2632	67465046	Disease	p.His628Arg	607839.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CHILDHOOD NEUROMUSCULAR	OMIM	931	COG1523	189458812,NP_000149
2632	67465046	Disease	p.His628Arg	607839.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CHILDHOOD NEUROMUSCULAR	OMIM	790	COG0366	189458812,NP_000149
2632	67465046	Disease	p.His628Arg	607839.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CHILDHOOD NEUROMUSCULAR	OMIM	664	COG0296	189458812,NP_000149
2632	67465046	Disease	p.His628Arg	607839.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CHILDHOOD NEUROMUSCULAR	OMIM	49	pfam02806	189458812,NP_000149
2632	67465046	Disease	p.Gln236His	607839.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR	OMIM	321	COG1523	189458812,NP_000149
2632	67465046	Disease	p.Gln236His	607839.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR	OMIM	98	COG0366	189458812,NP_000149
2632	67465046	Disease	p.Gln236His	607839.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR	OMIM	236	COG0296	189458812,NP_000149
2632	67465046	Disease	p.Gln236His	607839.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR	OMIM	32	pfam00128	189458812,NP_000149
2632	67465046	Disease	p.Gln236His	607839.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR	OMIM	92	smart00642	189458812,NP_000149
2632	67465046	Disease	p.Arg262Cys	607839.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR	OMIM	382	COG1523	189458812,NP_000149
2632	67465046	Disease	p.Arg262Cys	607839.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR	OMIM	151	COG0366	189458812,NP_000149
2632	67465046	Disease	p.Arg262Cys	607839.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR	OMIM	271	COG0296	189458812,NP_000149
2632	67465046	Disease	p.Arg262Cys	607839.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR	OMIM	71	pfam00128	189458812,NP_000149
2632	67465046	Disease	p.Arg262Cys	607839.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607839	GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR	OMIM	134	smart00642	189458812,NP_000149
84572	71152085	Disease	p.Gly106Ser	607838.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607838	MUCOLIPIDOSIS III GAMMA	OMIM	81	pfam07915	14249738,NP_115909
2055	145559455	Disease	p.Arg24Gly	607837.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607837	CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT	OMIM	No Domain	N/A	31083053,NP_061764
2055	145559455	Disease	p.Trp263Cys	607837.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607837	CEROID LIPOFUSCINOSIS, NEURONAL, 8	OMIM	No Domain	N/A	31083053,NP_061764
2055	145559455	Disease	p.Arg204Cys	607837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607837	CEROID LIPOFUSCINOSIS, NEURONAL, 8	OMIM	576	pfam03798	31083053,NP_061764
2055	145559455	Disease	p.Arg204Cys	607837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607837	CEROID LIPOFUSCINOSIS, NEURONAL, 8	OMIM	248	smart00724	31083053,NP_061764
2055	145559455	Disease	p.Ala30Pro	607837.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607837	CEROID LIPOFUSCINOSIS, NEURONAL, 8	OMIM	No Domain	N/A	31083053,NP_061764
22891	40789306	Disease	p.Ala62Thr	607818.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607818	URIC ACID NEPHROLITHIASIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
22891	148596972	Disease	p.Ala62Thr	607818.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607818	URIC ACID NEPHROLITHIASIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
22891	40789310	Disease	p.Ala62Thr	607818.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607818	URIC ACID NEPHROLITHIASIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
22891	295849308	Disease	p.Ala62Thr	607818.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607818	URIC ACID NEPHROLITHIASIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
157680	308153515	Disease	p.Leu2193Arg	607817.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607817	COHEN SYNDROME	OMIM	No Domain	N/A	35493713,NP_060360
157680	35493701	Disease	p.Leu2193Arg	607817.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607817	COHEN SYNDROME	OMIM	No Domain	N/A	NULL
157680	35493725	Disease	p.Leu2193Arg	607817.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607817	COHEN SYNDROME	OMIM	No Domain	N/A	NULL
157680	119874215	Disease	p.Leu2193Arg	607817.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607817	COHEN SYNDROME	OMIM	No Domain	N/A	NULL
157680	308153515	Disease	p.Asn2993Ser	607817.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607817	COHEN SYNDROME	OMIM	No Domain	N/A	35493713,NP_060360
157680	35493701	Disease	p.Asn2993Ser	607817.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607817	COHEN SYNDROME	OMIM	No Domain	N/A	NULL
157680	35493725	Disease	p.Asn2993Ser	607817.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607817	COHEN SYNDROME	OMIM	No Domain	N/A	NULL
157680	119874215	Disease	p.Asn2993Ser	607817.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607817	COHEN SYNDROME	OMIM	No Domain	N/A	NULL
157680	308153515	Disease	p.Gly2645Asp	607817.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607817	COHEN SYNDROME	OMIM	No Domain	N/A	35493713,NP_060360
157680	35493701	Disease	p.Gly2645Asp	607817.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607817	COHEN SYNDROME	OMIM	No Domain	N/A	NULL
157680	35493725	Disease	p.Gly2645Asp	607817.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607817	COHEN SYNDROME	OMIM	No Domain	N/A	NULL
157680	119874215	Disease	p.Gly2645Asp	607817.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607817	COHEN SYNDROME	OMIM	No Domain	N/A	NULL
157680	308153515	Disease	p.Ile2820Thr	607817.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607817	COHEN SYNDROME	OMIM	No Domain	N/A	35493713,NP_060360
157680	35493701	Disease	p.Ile2820Thr	607817.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607817	COHEN SYNDROME	OMIM	No Domain	N/A	NULL
157680	35493725	Disease	p.Ile2820Thr	607817.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607817	COHEN SYNDROME	OMIM	No Domain	N/A	NULL
157680	119874215	Disease	p.Ile2820Thr	607817.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607817	COHEN SYNDROME	OMIM	No Domain	N/A	NULL
6646	33302623	Disease	p.Ala347Thr	607809.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607809	3-@KETOTHIOLASE DEFICIENCY	OMIM	375	COG5056	49533617,NP_003092
6646	33302623	Disease	p.Ala347Thr	607809.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607809	3-@KETOTHIOLASE DEFICIENCY	OMIM	229	pfam03062	49533617,NP_003092
6646	33302623	Disease	p.Gly150Arg	607809.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607809	3-@KETOTHIOLASE DEFICIENCY	OMIM	123	COG5056	49533617,NP_003092
6646	33302623	Disease	p.Met1Lys	607809.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607809	3-@KETOTHIOLASE DEFICIENCY	OMIM	No Domain	N/A	49533617,NP_003092
6646	33302623	Disease	p.Gly379Val	607809.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607809	3-@KETOTHIOLASE DEFICIENCY	OMIM	417	COG5056	49533617,NP_003092
6646	33302623	Disease	p.Gly379Val	607809.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607809	3-@KETOTHIOLASE DEFICIENCY	OMIM	263	pfam03062	49533617,NP_003092
6646	33302623	Disease	p.Asn93Ser	607809.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607809	3-@KETOTHIOLASE DEFICIENCY	OMIM	38	COG5056	49533617,NP_003092
6646	33302623	Disease	p.Ile312Thr	607809.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607809	3-@KETOTHIOLASE DEFICIENCY	OMIM	340	COG5056	49533617,NP_003092
6646	33302623	Disease	p.Ile312Thr	607809.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607809	3-@KETOTHIOLASE DEFICIENCY	OMIM	172	pfam03062	49533617,NP_003092
6646	33302623	Disease	p.Ala333Pro	607809.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607809	3-@KETOTHIOLASE DEFICIENCY	OMIM	361	COG5056	49533617,NP_003092
6646	33302623	Disease	p.Ala333Pro	607809.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607809	3-@KETOTHIOLASE DEFICIENCY	OMIM	215	pfam03062	49533617,NP_003092
6646	33302623	Disease	p.Gln145Glu	607809.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607809	3-@KETOTHIOLASE DEFICIENCY	OMIM	118	COG5056	49533617,NP_003092
26504	224471892	Disease	p.Arg236Gln	607805.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607805	JALILI SYNDROME	OMIM	58	COG1253	94681046,NP_064569
26504	224471892	Disease	p.Arg236Gln	607805.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607805	JALILI SYNDROME	OMIM	52	COG4536	94681046,NP_064569
26504	224471892	Disease	p.Arg236Gln	607805.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607805	JALILI SYNDROME	OMIM	73	pfam01595	94681046,NP_064569
26504	224471892	Disease	p.Leu324Pro	607805.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607805	JALILI SYNDROME	OMIM	175	COG1253	94681046,NP_064569
26504	224471892	Disease	p.Leu324Pro	607805.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607805	JALILI SYNDROME	OMIM	152	COG4536	94681046,NP_064569
26504	224471892	Disease	p.Leu324Pro	607805.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607805	JALILI SYNDROME	OMIM	20	COG4535	94681046,NP_064569
26504	224471892	Disease	p.Leu324Pro	607805.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607805	JALILI SYNDROME	OMIM	303	pfam01595	94681046,NP_064569
26504	224471892	Disease	p.Ser200Tyr	607805.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607805	JALILI SYNDROME	OMIM	21	COG1253	94681046,NP_064569
26504	224471892	Disease	p.Ser200Tyr	607805.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607805	JALILI SYNDROME	OMIM	20	COG4536	94681046,NP_064569
26504	224471892	Disease	p.Ser200Tyr	607805.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607805	JALILI SYNDROME	OMIM	18	pfam01595	94681046,NP_064569
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	62	COG3839	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	42	COG3638	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	53	COG3842	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	42	COG4598	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	48	COG4181	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	70	COG4175	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	37	COG4604	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	41	COG4555	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	371	COG4988	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	49	COG4674	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	35	COG3840	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	39	COG2884	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	37	COG4559	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	38	COG4161	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	42	COG4133	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	39	COG4136	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	578	COG2274	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	42	COG3845	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	61	COG4608	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	35	COG4138	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	43	COG4107	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	13	smart00382	30795238,NP_775099
26154	27881501	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	550	COG3845	NULL
26154	27881501	Disease	p.Gly1381Glu	607800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	615	COG0488	NULL
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	61	COG3839	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	41	COG3638	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	52	COG3842	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	41	COG4598	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	47	COG4181	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	69	COG4175	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	36	COG4604	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	40	COG4555	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	370	COG4988	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	48	COG4674	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	34	COG3840	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	38	COG2884	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	36	COG4559	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	37	COG4161	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	41	COG4133	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	38	COG4136	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	577	COG2274	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	41	COG3845	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	60	COG4608	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	34	COG4138	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	42	COG4107	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	12	smart00382	30795238,NP_775099
26154	27881501	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	549	COG3845	NULL
26154	27881501	Disease	p.Asn1380Ser	607800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	614	COG0488	NULL
26154	269849713	Disease	p.Gly1651Ser	607800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	628	COG3842	30795238,NP_775099
26154	269849713	Disease	p.Gly1651Ser	607800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	364_G	COG4175	30795238,NP_775099
26154	269849713	Disease	p.Gly1651Ser	607800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	465	COG3845	30795238,NP_775099
26154	27881501	Disease	p.Gly1651Ser	607800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	No Domain	N/A	NULL
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	453	COG3839	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	192	COG3638	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	406	COG3842	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	189	COG4598	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	185	COG4181	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	210	COG4175	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	171	COG4604	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	173	COG4555	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	510	COG4988	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	195	COG4674	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	165	COG3840	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	174	COG2884	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	179	COG4559	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	178	COG4161	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	174	COG4133	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	172	COG4136	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	715	COG2274	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	194	COG3845	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	780	COG4608	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	174	COG4138	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	188	COG4107	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	339	smart00382	30795238,NP_775099
26154	27881501	Disease	p.Arg1514His	607800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	No Domain	N/A	NULL
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	486	COG3839	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	219	COG3638	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	434	COG3842	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	215	COG4598	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	212	COG4181	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	237	COG4175	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	198	COG4604	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	199	COG4555	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	536	COG4988	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	220	COG4674	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	192	COG3840	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	200	COG2884	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	206	COG4559	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	204	COG4161	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	200	COG4133	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	199	COG4136	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	741	COG2274	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	221	COG3845	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	807	COG4608	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	200	COG4138	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	215	COG4107	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	652	smart00382	30795238,NP_775099
26154	27881501	Disease	p.Glu1539Lys	607800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	ICHTHYOSIS, LAMELLAR, 2	OMIM	No Domain	N/A	NULL
26154	269849713	Disease	p.Asp2363Asn	607800.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	118	COG4170	30795238,NP_775099
26154	269849713	Disease	p.Asp2363Asn	607800.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	112	COG4525	30795238,NP_775099
26154	269849713	Disease	p.Asp2363Asn	607800.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	106	COG4619	30795238,NP_775099
26154	269849713	Disease	p.Asp2363Asn	607800.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	153	COG4586	30795238,NP_775099
26154	269849713	Disease	p.Asp2363Asn	607800.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	125	COG4778	30795238,NP_775099
26154	269849713	Disease	p.Asp2363Asn	607800.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	192	pfam00005	30795238,NP_775099
26154	269849713	Disease	p.Asp2363Asn	607800.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	126_G	COG4107	30795238,NP_775099
26154	269849713	Disease	p.Asp2363Asn	607800.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	104	COG4152	30795238,NP_775099
26154	269849713	Disease	p.Asp2363Asn	607800.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	111	COG4555	30795238,NP_775099
26154	269849713	Disease	p.Asp2363Asn	607800.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	122	COG4167	30795238,NP_775099
26154	269849713	Disease	p.Asp2363Asn	607800.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	219	smart00382	30795238,NP_775099
26154	269849713	Disease	p.Asp2363Asn	607800.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	116	COG4161	30795238,NP_775099
26154	27881501	Disease	p.Asp2363Asn	607800.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	No Domain	N/A	NULL
26154	269849713	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	146_G	COG4988	30795238,NP_775099
26154	269849713	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	340	COG2274	30795238,NP_775099
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	155	cd03295	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	158	cd03252	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	285	cd03249	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	325	cd03228	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	203	cd03229	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	270	cd03221	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	218	cd03263	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	150	cd03265	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	195	cd03216	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	188	cd03255	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	156	cd03292	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	170	cd03262	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	188	cd03230	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	195	cd03293	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	185	cd03260	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	177	cd03253	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	154	COG4604	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	147	cd03298	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	163	cd03247	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	161	cd03245	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	155	cd03268	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	175	cd03264	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	187	cd03259	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	217	cd03301	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	148	cd03269	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	165	cd03266	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	178	COG0410	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	185	cd03294	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	175	cd03224	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	195	cd03219	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	153	cd03300	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	163	cd03218	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	158	cd03222	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	156	COG4555	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	177	cd03251	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	160	cd03261	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	171	cd03256	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	169	cd03217	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	148	cd03299	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	155	COG4136	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	157	COG4133	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	217	COG1120	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	179_G	COG1126	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	156	cd03296	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	161	COG4161	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	205	cd03244	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	195	cd03369	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	205	COG1129	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	493	COG4988	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	1403	COG1132	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	224	COG1119	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	168	COG4181	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	193	COG4175	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	148	COG3840	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	213	cd03233	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	161	COG1125	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	194	COG1136	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	170	cd03258	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	159	COG4559	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	217	COG1131	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	157	COG2884	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	428	cd03257	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	160	cd03254	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	178	COG4674	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	183	cd03248	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	168	COG1137	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	192	COG1117	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	306	smart00382	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	698	COG2274	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	173	COG1121	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	323	cd03215	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	763	COG4608	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	171	COG3845	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	228	COG0396	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	179	COG1127	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	173	COG1116	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	175	COG3638	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	219	COG0488	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	222	COG0411	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	505	COG1122	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	242	cd03213	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	434	COG3839	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	389	COG3842	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	172	COG4598	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	270	pfam00005	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	171	COG4107	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	175	cd03226	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	196	cd03234	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	167	cd03235	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	232	cd03214	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	194	cd03225	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	1306	cd00267	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	1262	cd03227	NULL
26154	27881501	Disease	p.Gly1179Arg	607800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607800	HARLEQUIN ICHTHYOSIS	OMIM	157	COG4138	NULL
90411	284005461	Disease	p.Asp129Glu	607788.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	No Domain	N/A	NULL
90411	284005463	Disease	p.Asp129Glu	607788.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	No Domain	N/A	NULL
90411	49036425	Disease	p.Asp129Glu	607788.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	64	cd00051	284005455,NP_001164978|284005451,NP_001164977|21281683,NP_644808|284005457,NP_001164979
90411	49036425	Disease	p.Asp129Glu	607788.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	64	cd00051	284005455,NP_001164978|284005451,NP_001164977|21281683,NP_644808|284005457,NP_001164979
90411	284005467	Disease	p.Asp129Glu	607788.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	No Domain	N/A	NULL
90411	49036425	Disease	p.Asp129Glu	607788.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	64	cd00051	284005455,NP_001164978|284005451,NP_001164977|21281683,NP_644808|284005457,NP_001164979
90411	49036425	Disease	p.Asp129Glu	607788.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	64	cd00051	284005455,NP_001164978|284005451,NP_001164977|21281683,NP_644808|284005457,NP_001164979
90411	284005461	Disease	p.Ile136Thr	607788.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	No Domain	N/A	NULL
90411	284005463	Disease	p.Ile136Thr	607788.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	No Domain	N/A	NULL
90411	49036425	Disease	p.Ile136Thr	607788.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	71	cd00051	284005455,NP_001164978|284005451,NP_001164977|21281683,NP_644808|284005457,NP_001164979
90411	49036425	Disease	p.Ile136Thr	607788.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	71	cd00051	284005455,NP_001164978|284005451,NP_001164977|21281683,NP_644808|284005457,NP_001164979
90411	284005467	Disease	p.Ile136Thr	607788.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	No Domain	N/A	NULL
90411	49036425	Disease	p.Ile136Thr	607788.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	71	cd00051	284005455,NP_001164978|284005451,NP_001164977|21281683,NP_644808|284005457,NP_001164979
90411	49036425	Disease	p.Ile136Thr	607788.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	71	cd00051	284005455,NP_001164978|284005451,NP_001164977|21281683,NP_644808|284005457,NP_001164979
90411	284005461	Disease	p.Asp81Tyr	607788.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	68	cd00051	NULL
90411	284005463	Disease	p.Asp81Tyr	607788.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	68	cd00051	NULL
90411	49036425	Disease	p.Asp81Tyr	607788.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	10	cd00051	284005455,NP_001164978|284005451,NP_001164977|21281683,NP_644808|284005457,NP_001164979
90411	49036425	Disease	p.Asp81Tyr	607788.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	10	cd00051	284005455,NP_001164978|284005451,NP_001164977|21281683,NP_644808|284005457,NP_001164979
90411	284005467	Disease	p.Asp81Tyr	607788.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	30	cd00051	NULL
90411	49036425	Disease	p.Asp81Tyr	607788.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	10	cd00051	284005455,NP_001164978|284005451,NP_001164977|21281683,NP_644808|284005457,NP_001164979
90411	49036425	Disease	p.Asp81Tyr	607788.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607788	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2	OMIM	10	cd00051	284005455,NP_001164978|284005451,NP_001164977|21281683,NP_644808|284005457,NP_001164979
255738	31317307	Disease	p.Ser127Arg	607786.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	153	cd07483	NULL
255738	31317307	Disease	p.Ser127Arg	607786.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	126	COG1404	NULL
255738	31317307	Disease	p.Ser127Arg	607786.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	99	pfam05922	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	232	cd07483	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	45	cd04843	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	302	COG1404	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	190	pfam00082	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	260	cd00306	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	56	cd07498	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	46	cd07477	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	46	cd04847	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	37	cd07490	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	45	cd05561	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	52_G	cd07482	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	41	cd07492	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	163	cd04059	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	130	cd04077	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	95	cd07496	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	44	cd07489	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	35	cd07493	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	80	cd04848	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	92	cd07476	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	86	cd04842	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	106	cd07475	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	83	cd07485	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	110	cd07487	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	76	cd07474	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	47	cd07481	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	56	cd07473	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	52_G	cd07480	NULL
255738	31317307	Disease	p.Phe216Leu	607786.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	94	cd07484	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	415	cd07483	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	280	cd04843	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	932	COG1404	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	676	pfam00082	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	1232	cd00306	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	312	cd07498	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	264	cd07477	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	357	cd04847	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	226	cd07490	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	197	cd05561	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	361	cd07482	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	226	cd07492	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	436	cd04059	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	412	cd04077	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	310	cd07496	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	437	cd07489	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	235	cd07493	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	439	cd04848	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	266	cd07476	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	537	cd04842	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	597	cd07475	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	342	cd07485	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	405	cd07487	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	539	cd07474	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	257	cd07481	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	372	cd07473	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	271	cd07480	NULL
255738	31317307	Disease	p.Asp374Tyr	607786.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	HYPERCHOLESTEROLEMIA, FAMILIAL, 3	OMIM	283	cd07484	NULL
255738	31317307	Disease	p.Arg46Leu	607786.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1	OMIM	24	cd07483	NULL
255738	31317307	Disease	p.Arg46Leu	607786.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607786	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1	OMIM	14	COG1404	NULL
80270	218563684	Disease	p.Glu147Lys	607764.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607764	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1	OMIM	150	pfam01073	NULL
80270	218563684	Disease	p.Glu147Lys	607764.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607764	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1	OMIM	215	pfam01370	NULL
80270	218563684	Disease	p.Glu147Lys	607764.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607764	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1	OMIM	214	pfam07993	NULL
80270	47605550	Disease	p.Glu147Lys	607764.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607764	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1	OMIM	147_G	pfam02719	19923621,NP_079469
80270	47605550	Disease	p.Glu147Lys	607764.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607764	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1	OMIM	150	pfam01073	19923621,NP_079469
80270	47605550	Disease	p.Glu147Lys	607764.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607764	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1	OMIM	161	COG3320	19923621,NP_079469
80270	47605550	Disease	p.Glu147Lys	607764.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607764	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1	OMIM	193	COG1088	19923621,NP_079469
80270	47605550	Disease	p.Glu147Lys	607764.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607764	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1	OMIM	261	COG0451	19923621,NP_079469
80270	47605550	Disease	p.Glu147Lys	607764.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607764	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1	OMIM	215	pfam01370	19923621,NP_079469
80270	47605550	Disease	p.Glu147Lys	607764.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607764	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1	OMIM	214	pfam07993	19923621,NP_079469
80270	218563686	Disease	p.Glu147Lys	607764.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607764	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1	OMIM	150	pfam01073	NULL
80270	218563686	Disease	p.Glu147Lys	607764.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607764	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1	OMIM	215	pfam01370	NULL
80270	218563686	Disease	p.Glu147Lys	607764.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607764	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1	OMIM	214	pfam07993	NULL
84623	55736065	Disease	p.Arg40Trp	607761.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 4	OMIM	No Domain	N/A	26006461,NP_115920
84623	239787787	Disease	p.Arg40Trp	607761.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 4	OMIM	No Domain	N/A	NULL
84623	55736065	Disease	p.Arg336Gln	607761.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 4	OMIM	3	cd07693	26006461,NP_115920
84623	55736065	Disease	p.Arg336Gln	607761.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 4	OMIM	2	pfam07679	26006461,NP_115920
84623	239787787	Disease	p.Arg336Gln	607761.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 4	OMIM	3	cd07693	NULL
84623	239787787	Disease	p.Arg336Gln	607761.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 4	OMIM	2	pfam07679	NULL
84623	55736065	Disease	p.Val731Phe	607761.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 4	OMIM	No Domain	N/A	26006461,NP_115920
84623	239787787	Disease	p.Val731Phe	607761.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 4	OMIM	No Domain	N/A	NULL
79742	193804856	Disease	p.Val731Phe	607759.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607759	MOVED TO 173470.0014	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Val731Phe	607759.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607759	MOVED TO 173470.0014	OMIM	No Domain	N/A	193804854,NP_789789
3674	226694183	Disease	p.Ile843Ser	607759.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607759	BAK PLATELET-SPECIFIC ANTIGEN	OMIM	739	pfam08441	88758615,NP_000410
3674	226694183	Disease	p.Gly273Asp	607759.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607759	GLANZMANN THROMBASTHENIA	OMIM	15	smart00191	88758615,NP_000410
3674	226694183	Disease	p.Arg327His	607759.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607759	GLANZMANN THROMBASTHENIA	OMIM	15	smart00191	88758615,NP_000410
3674	226694183	Disease	p.Arg327His	607759.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607759	GLANZMANN THROMBASTHENIA	OMIM	8	pfam01839	88758615,NP_000410
3674	226694183	Disease	p.Gly418Asp	607759.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607759	GLANZMANN THROMBASTHENIA	OMIM	57	pfam01839	88758615,NP_000410
3674	226694183	Disease	p.Gly418Asp	607759.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607759	GLANZMANN THROMBASTHENIA	OMIM	66	smart00191	88758615,NP_000410
3674	226694183	Disease	p.Glu324Lys	607759.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607759	GLANZMANN THROMBASTHENIA	OMIM	9	smart00191	88758615,NP_000410
3674	226694183	Disease	p.Glu324Lys	607759.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607759	GLANZMANN THROMBASTHENIA	OMIM	5	pfam01839	88758615,NP_000410
3674	226694183	Disease	p.Ile565Thr	607759.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607759	GLANZMANN THROMBASTHENIA	OMIM	136	pfam08441	88758615,NP_000410
3674	226694183	Disease	p.Leu214Pro	607759.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607759	GLANZMANN THROMBASTHENIA	OMIM	No Domain	N/A	88758615,NP_000410
3674	226694183	Disease	p.Ser926Leu	607759.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607759	GLANZMANN THROMBASTHENIA	OMIM	No Domain	N/A	88758615,NP_000410
3674	226694183	Disease	p.Gln595His	607759.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607759	GLANZMANN THROMBASTHENIA	OMIM	172	pfam08441	88758615,NP_000410
5726	261490645	Disease	p.Ala49Pro	607751.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607751	PHENYLTHIOCARBAMIDE TASTING	OMIM	41	pfam05296	NULL
5726	261490645	Disease	p.Val262Ala	607751.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607751	PHENYLTHIOCARBAMIDE TASTING	OMIM	258	pfam05296	NULL
5726	261490645	Disease	p.Ile296Val	607751.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607751	PHENYLTHIOCARBAMIDE TASTING	OMIM	292	pfam05296	NULL
9414	282165800	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	145	smart00228	NULL
9414	282165800	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	38	cd00988	NULL
9414	282165800	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	122	cd00992	NULL
9414	282165800	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	47	pfam00595	NULL
9414	282165800	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	49	cd00136	NULL
9414	42518070	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	18	pfam00595	NULL
9414	42518070	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	7	cd00136	NULL
9414	42518070	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	37	smart00228	NULL
9414	42518070	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	6	cd00988	NULL
9414	42518070	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	33	cd00992	NULL
9414	42518065	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	18	pfam00595	NULL
9414	42518065	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	7	cd00136	NULL
9414	42518065	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	37	smart00228	NULL
9414	42518065	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	6	cd00988	NULL
9414	42518065	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	33	cd00992	NULL
9414	282165706	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	18	pfam00595	NULL
9414	282165706	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	7	cd00136	NULL
9414	282165706	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	37	smart00228	NULL
9414	282165706	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	6	cd00988	NULL
9414	282165706	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	33	cd00992	NULL
9414	282165810	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	No Domain	N/A	NULL
9414	282165804	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	29	cd00992	NULL
9414	282165804	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	3	cd00136	NULL
9414	282165804	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	2	cd00988	NULL
9414	282165804	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	33	smart00228	NULL
9414	282165804	Disease	p.Val48Ala	607709.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607709	HYPERCHOLANEMIA, FAMILIAL	OMIM	14	pfam00595	NULL
124590	81175048	Disease	p.Leu48Pro	607696.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607696	USHER SYNDROME, TYPE IG	OMIM	158	cd00204	34304383,NP_775748
124590	81175048	Disease	p.Leu48Pro	607696.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607696	USHER SYNDROME, TYPE IG	OMIM	36	smart00248	34304383,NP_775748
124590	81175048	Disease	p.Leu48Pro	607696.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607696	USHER SYNDROME, TYPE IG	OMIM	40	pfam00023	34304383,NP_775748
79048	52788293	Disease	p.Arg540Gln	607693.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607693	THYROID HORMONE METABOLISM, ABNORMAL	OMIM	No Domain	N/A	83779010,NP_076982
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	11	pfam08477	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	11	cd04158	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	11	cd04156	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	11	cd04151	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	11	cd00878	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	11	cd04159	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	11	cd04162	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	12	cd04150	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	11	cd04157	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	11	cd04160	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	29	pfam00025	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	11	cd04161	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	38	COG1100	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	35	cd00879	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	12	cd00154	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	12	cd04105	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	25	smart00177	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	30	cd04154	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	27	cd04155	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	21	cd04149	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	8	cd00880	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	8	cd00882	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	27	cd04153	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	15	cd04152	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	29	smart00178	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	11	pfam08477	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	11	cd04158	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	11	cd04156	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	11	cd04151	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	11	cd00878	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	11	cd04159	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	11	cd04162	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	12	cd04150	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	11	cd04157	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	11	cd04160	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	29	pfam00025	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	11	cd04161	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	38	COG1100	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	35	cd00879	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	12	cd00154	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	12	cd04105	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	25	smart00177	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	30	cd04154	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	27	cd04155	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	21	cd04149	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	8	cd00880	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	8	cd00882	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	27	cd04153	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	15	cd04152	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	607690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	29	smart00178	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	112	cd04158	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	116	cd04156	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	111	cd04151	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	189	cd00878	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	185	cd04159	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	113	cd04162	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	114	cd04150	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	124	cd04157	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	159	cd04160	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	142	pfam00025	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	113	cd04161	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	302	COG1100	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	136	cd00879	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	316	cd00154	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	197	cd04105	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	125	smart00177	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	142	cd04154	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	137	cd04155	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	121	cd04149	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	311	cd00880	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	518	cd00882	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	134	cd04153	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	121	cd04152	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	129	smart00178	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	112	cd04158	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	116	cd04156	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	111	cd04151	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	189	cd00878	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	185	cd04159	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	113	cd04162	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	114	cd04150	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	124	cd04157	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	159	cd04160	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	142	pfam00025	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	113	cd04161	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	302	COG1100	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	136	cd00879	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	316	cd00154	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	197	cd04105	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	125	smart00177	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	142	cd04154	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	137	cd04155	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	121	cd04149	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	311	cd00880	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	518	cd00882	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	134	cd04153	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	121	cd04152	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	607690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	129	smart00178	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	175	cd04158	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	147	cd04156	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	143	cd04151	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	281	cd00878	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	297	cd04159	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	158	cd04162	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	145	cd04150	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	155	cd04157	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	240	cd04160	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	185	pfam00025	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	147	cd04161	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	372	COG1100	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	184	cd00879	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	295	cd04105	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	155	smart00177	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	189	cd04154	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	167	cd04155	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	152	cd04149	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	374	cd00880	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	635	cd00882	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	168	cd04153	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	260	cd04152	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	174	smart00178	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	175	cd04158	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	147	cd04156	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	143	cd04151	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	281	cd00878	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	297	cd04159	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	158	cd04162	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	145	cd04150	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	155	cd04157	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	240	cd04160	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	185	pfam00025	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	147	cd04161	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	372	COG1100	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	184	cd00879	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	295	cd04105	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	155	smart00177	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	189	cd04154	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	167	cd04155	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	152	cd04149	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	374	cd00880	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	635	cd00882	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	168	cd04153	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	260	cd04152	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	607690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	174	smart00178	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	182	cd04158	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	153	cd04156	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	149	cd04151	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	293	cd00878	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	303	cd04159	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	166	cd04162	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	151	cd04150	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	161	cd04157	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	246	cd04160	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	191	pfam00025	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	159	cd04161	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	419	COG1100	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	192	cd00879	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	339	cd04105	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	161	smart00177	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	204	cd04154	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	173	cd04155	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	158	cd04149	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	429	cd00880	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	752	cd00882	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	174	cd04153	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	266	cd04152	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	180	smart00178	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	182	cd04158	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	153	cd04156	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	149	cd04151	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	293	cd00878	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	303	cd04159	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	166	cd04162	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	151	cd04150	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	161	cd04157	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	246	cd04160	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	191	pfam00025	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	159	cd04161	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	419	COG1100	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	192	cd00879	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	339	cd04105	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	161	smart00177	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	204	cd04154	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	173	cd04155	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	158	cd04149	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	429	cd00880	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	752	cd00882	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	174	cd04153	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	266	cd04152	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly185Val	607690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607690	CHYLOMICRON RETENTION DISEASE	OMIM	180	smart00178	75709204,NP_001028675|7705827,NP_057187
23529	261245022	Disease	p.Arg197Leu	607672.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607672	COLD-INDUCED SWEATING SYNDROME 2	OMIM	No Domain	N/A	NULL
23529	56404673	Disease	p.Arg197Leu	607672.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607672	COLD-INDUCED SWEATING SYNDROME 2	OMIM	No Domain	N/A	7019351,NP_037378
23584	68053314	Disease	p.Thr67Ile	607657.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607657	CYSTATHIONINURIA	OMIM	44	cd05880	21361429,NP_055127
23584	68053314	Disease	p.Thr67Ile	607657.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607657	CYSTATHIONINURIA	OMIM	44	cd05715	21361429,NP_055127
23584	68053314	Disease	p.Thr67Ile	607657.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607657	CYSTATHIONINURIA	OMIM	44	pfam07686	21361429,NP_055127
23584	68053314	Disease	p.Thr67Ile	607657.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607657	CYSTATHIONINURIA	OMIM	36	cd04984	21361429,NP_055127
23584	68053314	Disease	p.Thr67Ile	607657.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607657	CYSTATHIONINURIA	OMIM	39	cd00099	21361429,NP_055127
23584	68053314	Disease	p.Thr67Ile	607657.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607657	CYSTATHIONINURIA	OMIM	38	smart00406	21361429,NP_055127
23584	68053314	Disease	p.Thr67Ile	607657.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607657	CYSTATHIONINURIA	OMIM	38_G	cd04983	21361429,NP_055127
23584	68053314	Disease	p.Thr67Ile	607657.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607657	CYSTATHIONINURIA	OMIM	39	cd00096	21361429,NP_055127
23584	68053314	Disease	p.Thr67Ile	607657.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607657	CYSTATHIONINURIA	OMIM	78	smart00409	21361429,NP_055127
23584	68053314	Disease	p.Thr67Ile	607657.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607657	CYSTATHIONINURIA	OMIM	78	smart00410	21361429,NP_055127
23584	68053314	Disease	p.Gln240Glu	607657.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607657	CYSTATHIONINURIA	OMIM	No Domain	N/A	21361429,NP_055127
23584	68053314	Disease	p.Ser403Ile	607657.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607657	HOMOCYSTEINE, TOTAL PLASMA, ELEVATED	OMIM	No Domain	N/A	21361429,NP_055127
1797	115311709	Disease	p.Ser1808Asn	607642.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607642	SMITH-MAGENIS SYNDROME	OMIM	No Domain	N/A	20631980,NP_005501
1797	115311709	Disease	p.Gln1562Arg	607642.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607642	SMITH-MAGENIS SYNDROME	OMIM	No Domain	N/A	20631980,NP_005501
7498	2506326	Disease	p.Arg149Cys	607633.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607633	XANTHINURIA, TYPE I	OMIM	163	COG2080	91823271,NP_000370
7498	2506326	Disease	p.Arg149Cys	607633.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607633	XANTHINURIA, TYPE I	OMIM	169	COG4630	91823271,NP_000370
7498	2506326	Disease	p.Arg149Cys	607633.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607633	XANTHINURIA, TYPE I	OMIM	207	pfam01799	91823271,NP_000370
4864	83305902	Disease	p.Gln928Pro	607623.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1	OMIM	704_G	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Gln928Pro	607623.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1	OMIM	584	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Thr1036Met	607623.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1	OMIM	806	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Thr1036Met	607623.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1	OMIM	746	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Asn1156Ser	607623.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1	OMIM	921	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Asn1156Ser	607623.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1	OMIM	858	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Gly992Trp	607623.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE D	OMIM	767	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Gly992Trp	607623.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE D	OMIM	707	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Val889Met	607623.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM	OMIM	674	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Val889Met	607623.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM	OMIM	545	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Tyr1088Cys	607623.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM	OMIM	854	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Tyr1088Cys	607623.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM	OMIM	789	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Leu1213Phe	607623.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM	OMIM	982	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Leu1213Phe	607623.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM	OMIM	918	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ile1061Thr	607623.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1	OMIM	833	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ile1061Thr	607623.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1	OMIM	769	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Arg958Gln	607623.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, VARIANT TYPE C1	OMIM	742	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Arg958Gln	607623.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, VARIANT TYPE C1	OMIM	677	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Pro1007Ala	607623.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, VARIANT TYPE C1	OMIM	776_G	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Pro1007Ala	607623.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, VARIANT TYPE C1	OMIM	724	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Gly992Arg	607623.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1	OMIM	767	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Gly992Arg	607623.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1	OMIM	707	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Val378Ala	607623.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1	OMIM	41	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Val950Met	607623.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1	OMIM	728	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Val950Met	607623.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1	OMIM	650	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ala1035Val	607623.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1	OMIM	805	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ala1035Val	607623.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1	OMIM	745	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Cys177Tyr	607623.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1	OMIM	No Domain	N/A	255652944,NP_000262
4864	83305902	Disease	p.Arg978Cys	607623.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1	OMIM	762_G	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Arg978Cys	607623.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1	OMIM	694	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Cys113Arg	607623.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607623	NIEMANN-PICK DISEASE, TYPE C1	OMIM	No Domain	N/A	255652944,NP_000262
6609	300795589	Disease	p.Arg496Leu	607608.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	590	cd00842	NULL
6609	56117840	Disease	p.Arg496Leu	607608.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	589	cd00842	NULL
6609	300795589	Disease	p.Gly577Ser	607608.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	No Domain	N/A	NULL
6609	56117840	Disease	p.Gly577Ser	607608.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	No Domain	N/A	NULL
6609	300795589	Disease	p.Ser436Arg	607608.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	447	pfam00149	NULL
6609	300795589	Disease	p.Ser436Arg	607608.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	419	cd00838	NULL
6609	300795589	Disease	p.Ser436Arg	607608.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	412	cd00842	NULL
6609	56117840	Disease	p.Ser436Arg	607608.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	390	cd00842	NULL
6609	56117840	Disease	p.Ser436Arg	607608.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	360	pfam00149	NULL
6609	56117840	Disease	p.Ser436Arg	607608.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	418	cd00838	NULL
6609	300795589	Disease	p.Met382Ile	607608.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	307	pfam00149	NULL
6609	300795589	Disease	p.Met382Ile	607608.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	365	cd00838	NULL
6609	300795589	Disease	p.Met382Ile	607608.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	316	cd00842	NULL
6609	56117840	Disease	p.Met382Ile	607608.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	315	cd00842	NULL
6609	56117840	Disease	p.Met382Ile	607608.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	306	pfam00149	NULL
6609	56117840	Disease	p.Met382Ile	607608.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	364	cd00838	NULL
6609	300795589	Disease	p.Gly242Arg	607608.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	44	pfam00149	NULL
6609	300795589	Disease	p.Gly242Arg	607608.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	55	cd00838	NULL
6609	300795589	Disease	p.Gly242Arg	607608.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	108	cd00842	NULL
6609	56117840	Disease	p.Gly242Arg	607608.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	107	cd00842	NULL
6609	56117840	Disease	p.Gly242Arg	607608.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	43	pfam00149	NULL
6609	56117840	Disease	p.Gly242Arg	607608.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	39	cd00838	NULL
6609	300795589	Disease	p.Asn383Ser	607608.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	308	pfam00149	NULL
6609	300795589	Disease	p.Asn383Ser	607608.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	366	cd00838	NULL
6609	300795589	Disease	p.Asn383Ser	607608.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	317	cd00842	NULL
6609	56117840	Disease	p.Asn383Ser	607608.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	316	cd00842	NULL
6609	56117840	Disease	p.Asn383Ser	607608.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	307	pfam00149	NULL
6609	56117840	Disease	p.Asn383Ser	607608.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	365	cd00838	NULL
6609	300795589	Disease	p.Leu302Pro	607608.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	166	pfam00149	NULL
6609	300795589	Disease	p.Leu302Pro	607608.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	177	cd00838	NULL
6609	300795589	Disease	p.Leu302Pro	607608.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	206	cd00842	NULL
6609	56117840	Disease	p.Leu302Pro	607608.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	205	cd00842	NULL
6609	56117840	Disease	p.Leu302Pro	607608.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	165	pfam00149	NULL
6609	56117840	Disease	p.Leu302Pro	607608.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	176	cd00838	NULL
6609	300795589	Disease	p.Trp391Gly	607608.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL	OMIM	316	pfam00149	NULL
6609	300795589	Disease	p.Trp391Gly	607608.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL	OMIM	374	cd00838	NULL
6609	300795589	Disease	p.Trp391Gly	607608.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL	OMIM	325	cd00842	NULL
6609	56117840	Disease	p.Trp391Gly	607608.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL	OMIM	324	cd00842	NULL
6609	56117840	Disease	p.Trp391Gly	607608.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL	OMIM	315	pfam00149	NULL
6609	56117840	Disease	p.Trp391Gly	607608.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL	OMIM	373	cd00838	NULL
6609	300795589	Disease	p.His421Tyr	607608.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	346	pfam00149	NULL
6609	300795589	Disease	p.His421Tyr	607608.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	404	cd00838	NULL
6609	300795589	Disease	p.His421Tyr	607608.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	368	cd00842	NULL
6609	56117840	Disease	p.His421Tyr	607608.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	367	cd00842	NULL
6609	56117840	Disease	p.His421Tyr	607608.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	345	pfam00149	NULL
6609	56117840	Disease	p.His421Tyr	607608.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B	OMIM	403	cd00838	NULL
6609	300795589	Disease	p.Gln292Lys	607608.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B||NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL	OMIM	96	pfam00149	NULL
6609	300795589	Disease	p.Gln292Lys	607608.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B||NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL	OMIM	105	cd00838	NULL
6609	300795589	Disease	p.Gln292Lys	607608.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B||NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL	OMIM	168	cd00842	NULL
6609	56117840	Disease	p.Gln292Lys	607608.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B||NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL	OMIM	167	cd00842	NULL
6609	56117840	Disease	p.Gln292Lys	607608.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B||NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL	OMIM	95	pfam00149	NULL
6609	56117840	Disease	p.Gln292Lys	607608.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE B||NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL	OMIM	104	cd00838	NULL
6609	300795589	Disease	p.Ala482Glu	607608.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	550	cd00838	NULL
6609	300795589	Disease	p.Ala482Glu	607608.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	567	cd00842	NULL
6609	56117840	Disease	p.Ala482Glu	607608.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	566	cd00842	NULL
6609	56117840	Disease	p.Ala482Glu	607608.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	549	cd00838	NULL
6609	300795589	Disease	p.Tyr467Ser	607608.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	535	cd00838	NULL
6609	300795589	Disease	p.Tyr467Ser	607608.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	451	cd00842	NULL
6609	56117840	Disease	p.Tyr467Ser	607608.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	450	cd00842	NULL
6609	56117840	Disease	p.Tyr467Ser	607608.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607608	NIEMANN-PICK DISEASE, TYPE A	OMIM	534	cd00838	NULL
3857	239938886	Disease	p.Arg163Trp	607606.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607606	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC||PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS	OMIM	12	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Gln172Pro	607606.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607606	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC	OMIM	21	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Asn161Tyr	607606.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607606	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC	OMIM	10	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Asn161Lys	607606.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607606	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC	OMIM	10	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Arg163Gln	607606.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607606	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC	OMIM	12	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Met157Val	607606.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607606	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC	OMIM	6	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Asn161Ser	607606.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607606	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC	OMIM	10	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Leu168Ser	607606.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607606	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC	OMIM	17	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Leu160Val	607606.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607606	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC	OMIM	9	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Met157Thr	607606.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607606	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC	OMIM	6	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Val171Met	607606.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607606	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC	OMIM	20	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Leu160Phe	607606.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607606	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS	OMIM	9	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Asn161Ile	607606.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607606	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS	OMIM	10	pfam00038	55956899,NP_000217
169522	26006804	Disease	p.Gly459Asp	607604.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607604	RETINAL CONE DYSTROPHY 3B	OMIM	343	pfam00520	19424136,NP_598004
169522	26006804	Disease	p.Gly459Asp	607604.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607604	RETINAL CONE DYSTROPHY 3B	OMIM	55	pfam07885	19424136,NP_598004
169522	26006804	Disease	p.Ser256Trp	607604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607604	RETINAL CONE DYSTROPHY 3B	OMIM	No Domain	N/A	19424136,NP_598004
55212	90110978	Disease	p.His323Arg	607590.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607590	BARDET-BIEDL SYNDROME 7	OMIM	No Domain	N/A	29029557,NP_789794
55212	29029555	Disease	p.His323Arg	607590.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607590	BARDET-BIEDL SYNDROME 7	OMIM	No Domain	N/A	NULL
55212	90110978	Disease	p.Thr211Ile	607590.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607590	BARDET-BIEDL SYNDROME 7	OMIM	No Domain	N/A	29029557,NP_789794
55212	29029555	Disease	p.Thr211Ile	607590.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607590	BARDET-BIEDL SYNDROME 7	OMIM	No Domain	N/A	NULL
472	254763251	Disease	p.Phe2827Cys	607585.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	ATAXIA-TELANGIECTASIA VARIANT	OMIM	194	pfam00454	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	607585.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	ATAXIA-TELANGIECTASIA VARIANT	OMIM	189	smart00146	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	607585.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	ATAXIA-TELANGIECTASIA VARIANT	OMIM	217	cd00142	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	607585.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	ATAXIA-TELANGIECTASIA VARIANT	OMIM	179	cd05164	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	607585.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	ATAXIA-TELANGIECTASIA VARIANT	OMIM	207	cd05170	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	607585.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	ATAXIA-TELANGIECTASIA VARIANT	OMIM	214	cd05163	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	607585.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	ATAXIA-TELANGIECTASIA VARIANT	OMIM	167	cd05171	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	607585.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	ATAXIA-TELANGIECTASIA VARIANT	OMIM	168	cd05169	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	607585.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	ATAXIA-TELANGIECTASIA VARIANT	OMIM	175_G	cd05172	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	607585.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	ATAXIA-TELANGIECTASIA VARIANT	OMIM	150	cd00892	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	607585.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	ATAXIA-TELANGIECTASIA VARIANT	OMIM	130	cd05168	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	607585.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	ATAXIA-TELANGIECTASIA VARIANT	OMIM	186	cd00893	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	607585.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	ATAXIA-TELANGIECTASIA VARIANT	OMIM	472	cd00896	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	607585.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	ATAXIA-TELANGIECTASIA VARIANT	OMIM	217	cd05167	71902540,NP_000042
472	254763251	Disease	p.Leu2656Pro	607585.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY	OMIM	36	cd00896	71902540,NP_000042
472	254763251	Disease	p.Ala2626Pro	607585.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	ATAXIA-TELANGIECTASIA	OMIM	7	cd00896	71902540,NP_000042
472	254763251	Disease	p.Tyr2677Cys	607585.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	ATAXIA-TELANGIECTASIA VARIANT	OMIM	10	cd00893	71902540,NP_000042
472	254763251	Disease	p.Tyr2677Cys	607585.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	ATAXIA-TELANGIECTASIA VARIANT	OMIM	71	cd00896	71902540,NP_000042
472	254763251	Disease	p.Tyr2677Cys	607585.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	ATAXIA-TELANGIECTASIA VARIANT	OMIM	10	cd00893	71902540,NP_000042
472	254763251	Disease	p.Tyr2677Cys	607585.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	ATAXIA-TELANGIECTASIA VARIANT	OMIM	71	cd00896	71902540,NP_000042
79742	193804856	Disease	p.Tyr2677Cys	607585.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	MOVED TO 607585.0013	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Tyr2677Cys	607585.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607585	MOVED TO 607585.0013	OMIM	No Domain	N/A	193804854,NP_789789
410	146229327	Disease	p.Asn350Ser	607574.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	ARYLSULFATASE A POLYMORPHISM	OMIM	805	pfam00884	NULL
410	146229327	Disease	p.Asn350Ser	607574.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	ARYLSULFATASE A POLYMORPHISM	OMIM	620	COG3119	NULL
410	146229327	Disease	p.Pro426Leu	607574.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, JUVENILE||ARYLSULFATASE A, ALLELE A||METACHROMATIC LEUKODYSTROPHY, ADULT	OMIM	No Domain	N/A	NULL
410	146229327	Disease	p.Gly99Asp	607574.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, ADULT	OMIM	283	pfam00884	NULL
410	146229327	Disease	p.Gly99Asp	607574.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, ADULT	OMIM	244	COG3119	NULL
410	146229327	Disease	p.Ser96Phe	607574.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE	OMIM	280	pfam00884	NULL
410	146229327	Disease	p.Ser96Phe	607574.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE	OMIM	241	COG3119	NULL
410	146229327	Disease	p.Ile179Ser	607574.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, JUVENILE||METACHROMATIC LEUKODYSTROPHY, ADULT	OMIM	460	pfam00884	NULL
410	146229327	Disease	p.Ile179Ser	607574.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, JUVENILE||METACHROMATIC LEUKODYSTROPHY, ADULT	OMIM	382	COG3119	NULL
410	146229327	Disease	p.Arg84Gln	607574.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, LATE-ONSET	OMIM	222	pfam00884	NULL
410	146229327	Disease	p.Arg84Gln	607574.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, LATE-ONSET	OMIM	229	COG3119	NULL
410	146229327	Disease	p.Gly309Ser	607574.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE	OMIM	732	pfam00884	NULL
410	146229327	Disease	p.Gly309Ser	607574.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE	OMIM	583	COG3119	NULL
410	146229327	Disease	p.Gly86Asp	607574.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, SEVERE	OMIM	224	pfam00884	NULL
410	146229327	Disease	p.Gly86Asp	607574.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, SEVERE	OMIM	231	COG3119	NULL
410	146229327	Disease	p.Ser96Leu	607574.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, SEVERE	OMIM	280	pfam00884	NULL
410	146229327	Disease	p.Ser96Leu	607574.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, SEVERE	OMIM	241	COG3119	NULL
410	146229327	Disease	p.Gly122Ser	607574.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY	OMIM	306	pfam00884	NULL
410	146229327	Disease	p.Gly122Ser	607574.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY	OMIM	291	COG3119	NULL
410	146229327	Disease	p.Pro136Leu	607574.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, SEVERE	OMIM	323	pfam00884	NULL
410	146229327	Disease	p.Pro136Leu	607574.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, SEVERE	OMIM	312	COG3119	NULL
410	146229327	Disease	p.Gly154Asp	607574.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY	OMIM	355	pfam00884	NULL
410	146229327	Disease	p.Gly154Asp	607574.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY	OMIM	352	COG3119	NULL
410	146229327	Disease	p.Pro155Arg	607574.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	ARYLSULFATASE A PSEUDODEFICIENCY	OMIM	356	pfam00884	NULL
410	146229327	Disease	p.Pro155Arg	607574.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	ARYLSULFATASE A PSEUDODEFICIENCY	OMIM	353	COG3119	NULL
410	146229327	Disease	p.Pro167Arg	607574.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY	OMIM	448	pfam00884	NULL
410	146229327	Disease	p.Pro167Arg	607574.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY	OMIM	370	COG3119	NULL
410	146229327	Disease	p.Asp169Asn	607574.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	ARYLSULFATASE A PSEUDODEFICIENCY	OMIM	450	pfam00884	NULL
410	146229327	Disease	p.Asp169Asn	607574.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	ARYLSULFATASE A PSEUDODEFICIENCY	OMIM	372	COG3119	NULL
410	146229327	Disease	p.Ala212Val	607574.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY	OMIM	540	pfam00884	NULL
410	146229327	Disease	p.Ala212Val	607574.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY	OMIM	465	COG3119	NULL
410	146229327	Disease	p.Ala224Val	607574.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY	OMIM	553	pfam00884	NULL
410	146229327	Disease	p.Ala224Val	607574.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY	OMIM	478	COG3119	NULL
410	146229327	Disease	p.Pro231Thr	607574.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY	OMIM	560	pfam00884	NULL
410	146229327	Disease	p.Pro231Thr	607574.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY	OMIM	485	COG3119	NULL
410	146229327	Disease	p.Arg244Cys	607574.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY	OMIM	584	pfam00884	NULL
410	146229327	Disease	p.Arg244Cys	607574.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY	OMIM	502	COG3119	NULL
410	146229327	Disease	p.Gly245Arg	607574.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, SEVERE	OMIM	585	pfam00884	NULL
410	146229327	Disease	p.Gly245Arg	607574.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, SEVERE	OMIM	503	COG3119	NULL
410	146229327	Disease	p.Thr274Met	607574.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, SEVERE	OMIM	644	pfam00884	NULL
410	146229327	Disease	p.Thr274Met	607574.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, SEVERE	OMIM	533	COG3119	NULL
410	146229327	Disease	p.Arg288Cys	607574.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY	OMIM	711	pfam00884	NULL
410	146229327	Disease	p.Arg288Cys	607574.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY	OMIM	554	COG3119	NULL
410	146229327	Disease	p.Ser295Tyr	607574.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, SEVERE	OMIM	718	pfam00884	NULL
410	146229327	Disease	p.Ser295Tyr	607574.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, SEVERE	OMIM	567	COG3119	NULL
410	146229327	Disease	p.Gly325Cys	607574.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	ARYLSULFATASE A PSEUDODEFICIENCY	OMIM	780	pfam00884	NULL
410	146229327	Disease	p.Gly325Cys	607574.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	ARYLSULFATASE A PSEUDODEFICIENCY	OMIM	598	COG3119	NULL
410	146229327	Disease	p.Asp335Val	607574.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, SEVERE	OMIM	790	pfam00884	NULL
410	146229327	Disease	p.Asp335Val	607574.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, SEVERE	OMIM	608	COG3119	NULL
410	146229327	Disease	p.Arg370Trp	607574.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, SEVERE	OMIM	648	COG3119	NULL
410	146229327	Disease	p.Arg370Gln	607574.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, MILD	OMIM	648	COG3119	NULL
410	146229327	Disease	p.Pro377Leu	607574.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE	OMIM	684	COG3119	NULL
410	146229327	Disease	p.Glu382Lys	607574.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE	OMIM	689	COG3119	NULL
410	146229327	Disease	p.Arg390Trp	607574.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY	OMIM	No Domain	N/A	NULL
410	146229327	Disease	p.Thr409Ile	607574.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, MILD	OMIM	No Domain	N/A	NULL
410	146229327	Disease	p.Leu135Pro	607574.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, ADULT	OMIM	322	pfam00884	NULL
410	146229327	Disease	p.Leu135Pro	607574.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, ADULT	OMIM	311	COG3119	NULL
410	146229327	Disease	p.Thr286Pro	607574.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, ADULT	OMIM	709	pfam00884	NULL
410	146229327	Disease	p.Thr286Pro	607574.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, ADULT	OMIM	552	COG3119	NULL
410	146229327	Disease	p.Glu253Lys	607574.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE	OMIM	597	pfam00884	NULL
410	146229327	Disease	p.Glu253Lys	607574.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE	OMIM	511	COG3119	NULL
410	146229327	Disease	p.Thr408Ile	607574.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, ADULT	OMIM	No Domain	N/A	NULL
410	146229327	Disease	p.Cys300Phe	607574.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE	OMIM	723	pfam00884	NULL
410	146229327	Disease	p.Cys300Phe	607574.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE	OMIM	572	COG3119	NULL
410	146229327	Disease	p.Pro425Thr	607574.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607574	METACHROMATIC LEUKODYSTROPHY, JUVENILE	OMIM	No Domain	N/A	NULL
326625	38258221	Disease	p.Arg186Trp	607568.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607568	METHYLMALONIC ACIDURIA, cblB TYPE	OMIM	148	COG2096	16418349,NP_443077
326625	38258221	Disease	p.Arg186Trp	607568.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607568	METHYLMALONIC ACIDURIA, cblB TYPE	OMIM	254	pfam01923	16418349,NP_443077
378884	50400890	Disease	p.Gly216Ser	607566.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607566	EPILEPSY, PROGRESSIVE MYOCLONIC 2A	OMIM	No Domain	N/A	40255283,NP_940988
378884	50400890	Disease	p.Arg45Cys	607566.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607566	EPILEPSY, PROGRESSIVE MYOCLONIC 2A	OMIM	39	cd00162	40255283,NP_940988
378884	50400890	Disease	p.Arg45Cys	607566.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607566	EPILEPSY, PROGRESSIVE MYOCLONIC 2A	OMIM	39	smart00184	40255283,NP_940988
378884	50400890	Disease	p.Arg90His	607566.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607566	EPILEPSY, PROGRESSIVE MYOCLONIC 2A	OMIM	No Domain	N/A	40255283,NP_940988
378884	50400890	Disease	p.Gly198Ser	607566.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607566	EPILEPSY, PROGRESSIVE MYOCLONIC 2A	OMIM	No Domain	N/A	40255283,NP_940988
378884	50400890	Disease	p.Trp32Gly	607566.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607566	EPILEPSY, PROGRESSIVE MYOCLONIC 2A	OMIM	8	cd00162	40255283,NP_940988
378884	50400890	Disease	p.Trp32Gly	607566.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607566	EPILEPSY, PROGRESSIVE MYOCLONIC 2A	OMIM	7	smart00184	40255283,NP_940988
149233	311033431	Disease	p.Arg381Gln	607562.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607562	INFLAMMATORY BOWEL DISEASE 17, PROTECTION AGAINST||PSORIASIS, PROTECTION AGAINST	OMIM	No Domain	N/A	24430212,NP_653302
246213	74723817	Disease	p.Ala211Val	607557.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607557	DEAFNESS, AUTOSOMAL DOMINANT 25	OMIM	256	pfam07690	21322234,NP_647480
246213	74723817	Disease	p.Ala211Val	607557.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607557	DEAFNESS, AUTOSOMAL DOMINANT 25	OMIM	213	pfam00083	21322234,NP_647480
246213	74723817	Disease	p.Ala211Val	607557.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607557	DEAFNESS, AUTOSOMAL DOMINANT 25	OMIM	153	COG2271	21322234,NP_647480
246213	74723817	Disease	p.Ala211Val	607557.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607557	DEAFNESS, AUTOSOMAL DOMINANT 25	OMIM	312	COG0477	21322234,NP_647480
246213	74723817	Disease	p.Ala211Val	607557.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607557	DEAFNESS, AUTOSOMAL DOMINANT 25	OMIM	231	cd06174	21322234,NP_647480
246213	223718438	Disease	p.Ala211Val	607557.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607557	DEAFNESS, AUTOSOMAL DOMINANT 25	OMIM	256	pfam07690	NULL
246213	223718438	Disease	p.Ala211Val	607557.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607557	DEAFNESS, AUTOSOMAL DOMINANT 25	OMIM	153	COG2271	NULL
246213	223718438	Disease	p.Ala211Val	607557.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607557	DEAFNESS, AUTOSOMAL DOMINANT 25	OMIM	312	COG0477	NULL
246213	223718438	Disease	p.Ala211Val	607557.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607557	DEAFNESS, AUTOSOMAL DOMINANT 25	OMIM	231	cd06174	NULL
10128	156632706	Disease	p.Ala354Val	607544.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607544	LEIGH SYNDROME, FRENCH-CANADIAN TYPE	OMIM	No Domain	N/A	31621305,NP_573566
3784	6166005	Disease	p.Ala178Pro	607542.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	21	pfam00520	32479527,NP_000209
3784	32479525	Disease	p.Ala178Pro	607542.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	46	pfam07885	NULL
3784	32479525	Disease	p.Ala178Pro	607542.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	334	pfam00520	NULL
3784	6166005	Disease	p.Gly189Arg	607542.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	32	pfam00520	32479527,NP_000209
3784	32479525	Disease	p.Gly189Arg	607542.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	57	pfam07885	NULL
3784	32479525	Disease	p.Gly189Arg	607542.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	345	pfam00520	NULL
3784	6166005	Disease	p.Arg190Gln	607542.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	45	pfam00520	32479527,NP_000209
3784	32479525	Disease	p.Arg190Gln	607542.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	58	pfam07885	NULL
3784	32479525	Disease	p.Arg190Gln	607542.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	346	pfam00520	NULL
3784	6166005	Disease	p.Val254Met	607542.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	169	pfam00520	32479527,NP_000209
3784	32479525	Disease	p.Val254Met	607542.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	No Domain	N/A	NULL
3784	6166005	Disease	p.Leu273Phe	607542.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	189	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Leu273Phe	607542.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	7	pfam07885	32479527,NP_000209
3784	32479525	Disease	p.Leu273Phe	607542.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	No Domain	N/A	NULL
3784	6166005	Disease	p.Gly306Arg	607542.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	335	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Gly306Arg	607542.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	47	pfam07885	32479527,NP_000209
3784	32479525	Disease	p.Gly306Arg	607542.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	No Domain	N/A	NULL
3784	6166005	Disease	p.Thr312Ile	607542.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	341	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Thr312Ile	607542.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	53	pfam07885	32479527,NP_000209
3784	32479525	Disease	p.Thr312Ile	607542.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	No Domain	N/A	NULL
3784	6166005	Disease	p.Ala341Glu	607542.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1||LONG QT SYNDROME 1/2, DIGENIC	OMIM	401	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Ala341Glu	607542.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1||LONG QT SYNDROME 1/2, DIGENIC	OMIM	94	pfam07885	32479527,NP_000209
3784	32479525	Disease	p.Ala341Glu	607542.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1||LONG QT SYNDROME 1/2, DIGENIC	OMIM	22	pfam03520	NULL
3784	6166005	Disease	p.Ala341Val	607542.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	401	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Ala341Val	607542.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	94	pfam07885	32479527,NP_000209
3784	32479525	Disease	p.Ala341Val	607542.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	22	pfam03520	NULL
3784	6166005	Disease	p.Gly345Glu	607542.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	405	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Gly345Glu	607542.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	101	pfam07885	32479527,NP_000209
3784	32479525	Disease	p.Gly345Glu	607542.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	26	pfam03520	NULL
3784	6166005	Disease	p.Gly314Ser	607542.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	343	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Gly314Ser	607542.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	55	pfam07885	32479527,NP_000209
3784	32479525	Disease	p.Gly314Ser	607542.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	No Domain	N/A	NULL
3784	6166005	Disease	p.Arg555Cys	607542.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	138	pfam03520	32479527,NP_000209
3784	32479525	Disease	p.Arg555Cys	607542.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	No Domain	N/A	NULL
3784	6166005	Disease	p.Trp305Ser	607542.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	JERVELL AND LANGE-NIELSEN SYNDROME 1	OMIM	334	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Trp305Ser	607542.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	JERVELL AND LANGE-NIELSEN SYNDROME 1	OMIM	46	pfam07885	32479527,NP_000209
3784	32479525	Disease	p.Trp305Ser	607542.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	JERVELL AND LANGE-NIELSEN SYNDROME 1	OMIM	No Domain	N/A	NULL
3784	6166005	Disease	p.Ala300Thr	607542.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	329	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Ala300Thr	607542.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	40	pfam07885	32479527,NP_000209
3784	32479525	Disease	p.Ala300Thr	607542.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	No Domain	N/A	NULL
3784	6166005	Disease	p.Ala525Thr	607542.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1, RECESSIVE	OMIM	108	pfam03520	32479527,NP_000209
3784	32479525	Disease	p.Ala525Thr	607542.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1, RECESSIVE	OMIM	No Domain	N/A	NULL
3784	6166005	Disease	p.Thr587Met	607542.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	JERVELL AND LANGE-NIELSEN SYNDROME 1	OMIM	182	pfam03520	32479527,NP_000209
3784	32479525	Disease	p.Thr587Met	607542.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	JERVELL AND LANGE-NIELSEN SYNDROME 1	OMIM	No Domain	N/A	NULL
3784	6166005	Disease	p.Gly589Asp	607542.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1||JERVELL AND LANGE-NIELSEN SYNDROME 1	OMIM	184	pfam03520	32479527,NP_000209
3784	32479525	Disease	p.Gly589Asp	607542.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1||JERVELL AND LANGE-NIELSEN SYNDROME 1	OMIM	No Domain	N/A	NULL
3784	6166005	Disease	p.Pro117Leu	607542.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	No Domain	N/A	32479527,NP_000209
3784	32479525	Disease	p.Pro117Leu	607542.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	159	pfam00520	NULL
3784	6166005	Disease	p.Arg583Cys	607542.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1||LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO	OMIM	178	pfam03520	32479527,NP_000209
3784	32479525	Disease	p.Arg583Cys	607542.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1||LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
3784	6166005	Disease	p.Ser140Gly	607542.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	ATRIAL FIBRILLATION, FAMILIAL, 3	OMIM	No Domain	N/A	32479527,NP_000209
3784	32479525	Disease	p.Ser140Gly	607542.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	ATRIAL FIBRILLATION, FAMILIAL, 3	OMIM	183	pfam00520	NULL
3784	6166005	Disease	p.Gly269Ser	607542.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	185	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Gly269Ser	607542.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	3	pfam07885	32479527,NP_000209
3784	32479525	Disease	p.Gly269Ser	607542.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	No Domain	N/A	NULL
3784	6166005	Disease	p.Gly269Asp	607542.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	185	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Gly269Asp	607542.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	3	pfam07885	32479527,NP_000209
3784	32479525	Disease	p.Gly269Asp	607542.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	No Domain	N/A	NULL
3784	6166005	Disease	p.Val254Met	607542.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	169	pfam00520	32479527,NP_000209
3784	32479525	Disease	p.Val254Met	607542.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1	OMIM	No Domain	N/A	NULL
3784	6166005	Disease	p.Val307Leu	607542.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	SHORT QT SYNDROME 2	OMIM	336	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Val307Leu	607542.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	SHORT QT SYNDROME 2	OMIM	48	pfam07885	32479527,NP_000209
3784	32479525	Disease	p.Val307Leu	607542.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	SHORT QT SYNDROME 2	OMIM	No Domain	N/A	NULL
3784	6166005	Disease	p.Arg243Pro	607542.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1/2, DIGENIC	OMIM	158	pfam00520	32479527,NP_000209
3784	32479525	Disease	p.Arg243Pro	607542.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542	LONG QT SYNDROME 1/2, DIGENIC	OMIM	No Domain	N/A	NULL
166785	38258173	Disease	p.Tyr207Cys	607481.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607481	METHYLMALONIC ACIDURIA, cblA TYPE	OMIM	80	COG0378	26892295,NP_758454
166785	38258173	Disease	p.Tyr207Cys	607481.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607481	METHYLMALONIC ACIDURIA, cblA TYPE	OMIM	109	cd01983	26892295,NP_758454
166785	38258173	Disease	p.Tyr207Cys	607481.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607481	METHYLMALONIC ACIDURIA, cblA TYPE	OMIM	101	cd03114	26892295,NP_758454
166785	38258173	Disease	p.Tyr207Cys	607481.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607481	METHYLMALONIC ACIDURIA, cblA TYPE	OMIM	127	COG1703	26892295,NP_758454
166785	38258173	Disease	p.Tyr207Cys	607481.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607481	METHYLMALONIC ACIDURIA, cblA TYPE	OMIM	109	pfam02492	26892295,NP_758454
166785	38258173	Disease	p.Tyr207Cys	607481.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607481	METHYLMALONIC ACIDURIA, cblA TYPE	OMIM	103	pfam03308	26892295,NP_758454
147495	74728445	Disease	p.Leu9Arg	607479.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607479	HYPOTRICHOSIS SIMPLEX	OMIM	No Domain	N/A	23308597,NP_694545
6999	1351188	Disease	p.Arg441His	607478.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607478	UNIPOLAR DEPRESSION, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	5032165,NP_005642
6999	1351188	Disease	p.Arg303Trp	607478.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607478	ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7	OMIM	284_G	COG3483	5032165,NP_005642
6999	1351188	Disease	p.Arg303Trp	607478.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607478	ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7	OMIM	284	pfam03301	5032165,NP_005642
6999	1351188	Disease	p.Pro206Ser	607478.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607478	BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO	OMIM	227	COG3483	5032165,NP_005642
6999	1351188	Disease	p.Pro206Ser	607478.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607478	BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO	OMIM	184	pfam03301	5032165,NP_005642
3081	296434531	Disease	p.Pro230Ser	607474.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607474	ALKAPTONURIA	OMIM	248	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Pro230Ser	607474.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607474	ALKAPTONURIA	OMIM	246	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Val300Gly	607474.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607474	ALKAPTONURIA	OMIM	320	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Val300Gly	607474.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607474	ALKAPTONURIA	OMIM	326	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Gly161Arg	607474.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607474	ALKAPTONURIA	OMIM	176	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Gly161Arg	607474.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607474	ALKAPTONURIA	OMIM	169	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Arg330Ser	607474.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607474	ALKAPTONURIA	OMIM	350	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Arg330Ser	607474.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607474	ALKAPTONURIA	OMIM	359	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.His371Arg	607474.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607474	ALKAPTONURIA	OMIM	392	COG3508	115527117,NP_000178
3081	296434531	Disease	p.His371Arg	607474.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607474	ALKAPTONURIA	OMIM	419	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Met368Val	607474.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607474	ALKAPTONURIA	OMIM	389	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Met368Val	607474.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607474	ALKAPTONURIA	OMIM	416	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Gly270Arg	607474.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607474	ALKAPTONURIA	OMIM	290	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Gly270Arg	607474.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607474	ALKAPTONURIA	OMIM	293	pfam04209	115527117,NP_000178
146059	296439465	Disease	p.Arg1040Trp	607465.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607465	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I	OMIM	No Domain	N/A	57222570,NP_612486
146059	296439465	Disease	p.Pro1129Leu	607465.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607465	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I	OMIM	No Domain	N/A	57222570,NP_612486
146059	296439465	Disease	p.Asn598Ser	607465.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607465	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I	OMIM	No Domain	N/A	57222570,NP_612486
146059	296439465	Disease	p.Pro671Leu	607465.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607465	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I	OMIM	No Domain	N/A	57222570,NP_612486
146059	296439465	Disease	p.Phe866Ile	607465.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607465	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I	OMIM	No Domain	N/A	57222570,NP_612486
54808	68565365	Disease	p.Asn469Tyr	607461.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607461	DYGGVE-MELCHIOR-CLAUSEN DISEASE	OMIM	616	pfam09742	157779137,NP_060123
54808	68565365	Disease	p.Glu87Lys	607461.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607461	SMITH-MCCORT DYSPLASIA	OMIM	78	pfam09742	157779137,NP_060123
54808	68565365	Disease	p.Cys542Arg	607461.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607461	SMITH-McCORT DYSPLASIA	OMIM	700	pfam09742	157779137,NP_060123
84916	41016916	Disease	p.Arg565Trp	607456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607456	NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS	OMIM	No Domain	N/A	186928847,NP_116219
51119	28380824	Disease	p.Asn8Lys	607444.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607444	SHWACHMAN-DIAMOND SYNDROME	OMIM	No Domain	N/A	28416940,NP_057122
2218	28381358	Disease	p.Arg307Gln	607440.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607440	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4	OMIM	20	pfam04991	119395714,NP_006722|119395712,NP_001073270
2218	28381358	Disease	p.Arg307Gln	607440.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607440	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4	OMIM	20	pfam04991	119395714,NP_006722|119395712,NP_001073270
2218	28381358	Disease	p.Gln358Pro	607440.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607440	CARDIOMYOPATHY, DILATED, 1X	OMIM	205	pfam04991	119395714,NP_006722|119395712,NP_001073270
2218	28381358	Disease	p.Gln358Pro	607440.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607440	CARDIOMYOPATHY, DILATED, 1X	OMIM	205	pfam04991	119395714,NP_006722|119395712,NP_001073270
2218	28381358	Disease	p.Arg179Thr	607440.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607440	CARDIOMYOPATHY, DILATED, 1X	OMIM	No Domain	N/A	119395714,NP_006722|119395712,NP_001073270
2218	28381358	Disease	p.Arg179Thr	607440.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607440	CARDIOMYOPATHY, DILATED, 1X	OMIM	No Domain	N/A	119395714,NP_006722|119395712,NP_001073270
2218	28381358	Disease	p.Gly125Ser	607440.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607440	WALKER-WARBURG SYNDROME, FKTN-RELATED	OMIM	No Domain	N/A	119395714,NP_006722|119395712,NP_001073270
2218	28381358	Disease	p.Gly125Ser	607440.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607440	WALKER-WARBURG SYNDROME, FKTN-RELATED	OMIM	No Domain	N/A	119395714,NP_006722|119395712,NP_001073270
2218	28381358	Disease	p.Ala114Thr	607440.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607440	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4	OMIM	No Domain	N/A	119395714,NP_006722|119395712,NP_001073270
2218	28381358	Disease	p.Ala114Thr	607440.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607440	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4	OMIM	No Domain	N/A	119395714,NP_006722|119395712,NP_001073270
2218	28381358	Disease	p.Phe176Ser	607440.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607440	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4	OMIM	No Domain	N/A	119395714,NP_006722|119395712,NP_001073270
2218	28381358	Disease	p.Phe176Ser	607440.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607440	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4	OMIM	No Domain	N/A	119395714,NP_006722|119395712,NP_001073270
2218	28381358	Disease	p.Ala170Glu	607440.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607440	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	OMIM	No Domain	N/A	119395714,NP_006722|119395712,NP_001073270
2218	28381358	Disease	p.Ala170Glu	607440.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607440	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	OMIM	No Domain	N/A	119395714,NP_006722|119395712,NP_001073270
2218	28381358	Disease	p.Tyr371Cys	607440.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607440	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	OMIM	243	pfam04991	119395714,NP_006722|119395712,NP_001073270
2218	28381358	Disease	p.Tyr371Cys	607440.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607440	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	OMIM	243	pfam04991	119395714,NP_006722|119395712,NP_001073270
29954	32171723	Disease	p.Tyr666Cys	607439.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION, TYPE B, 2||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2	OMIM	689	COG1928	32455271,NP_037514
29954	32171723	Disease	p.Trp748Arg	607439.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION, TYPE B, 2	OMIM	787	COG1928	32455271,NP_037514
29954	32171723	Disease	p.Arg413Pro	607439.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2	OMIM	12	smart00472	32455271,NP_037514
29954	32171723	Disease	p.Arg413Pro	607439.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2	OMIM	110	pfam02815	32455271,NP_037514
29954	32171723	Disease	p.Arg413Pro	607439.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2	OMIM	412	COG1928	32455271,NP_037514
29954	32171723	Disease	p.Val373Phe	607439.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2	OMIM	75	smart00472	32455271,NP_037514
29954	32171723	Disease	p.Val373Phe	607439.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2	OMIM	26	pfam02815	32455271,NP_037514
29954	32171723	Disease	p.Val373Phe	607439.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2	OMIM	368	COG1928	32455271,NP_037514
29954	32171723	Disease	p.Ile198Asn	607439.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2	OMIM	181	COG1928	32455271,NP_037514
29954	32171723	Disease	p.Ile198Asn	607439.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2	OMIM	146	pfam02366	32455271,NP_037514
29954	32171723	Disease	p.Thr184Met	607439.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2	OMIM	167	COG1928	32455271,NP_037514
29954	32171723	Disease	p.Thr184Met	607439.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2	OMIM	132	pfam02366	32455271,NP_037514
29954	32171723	Disease	p.Trp748Ser	607439.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2	OMIM	787	COG1928	32455271,NP_037514
29954	32171723	Disease	p.Gly353Ser	607439.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2	OMIM	23	smart00472	32455271,NP_037514
29954	32171723	Disease	p.Gly353Ser	607439.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2	OMIM	343	COG1928	32455271,NP_037514
29954	32171723	Disease	p.Gly726Glu	607439.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2	OMIM	769	COG1928	32455271,NP_037514
29954	32171723	Disease	p.Gly353Ser	607439.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION, TYPE B, 2	OMIM	23	smart00472	32455271,NP_037514
29954	32171723	Disease	p.Gly353Ser	607439.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION, TYPE B, 2	OMIM	343	COG1928	32455271,NP_037514
29954	32171723	Disease	p.Gly726Glu	607439.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION, TYPE B, 2	OMIM	769	COG1928	32455271,NP_037514
29954	32171723	Disease	p.Gly246Asp	607439.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION, TYPE B, 2	OMIM	234	COG1928	32455271,NP_037514
29954	32171723	Disease	p.Gly246Asp	607439.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607439	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION, TYPE B, 2	OMIM	203	pfam02366	32455271,NP_037514
23590	74744657	Disease	p.Asp308Glu	607429.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607429	COENZYME Q10 DEFICIENCY	OMIM	212	pfam00348	50659086,NP_055132
23590	74744657	Disease	p.Asp308Glu	607429.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607429	COENZYME Q10 DEFICIENCY	OMIM	380	cd00867	50659086,NP_055132
23590	74744657	Disease	p.Asp308Glu	607429.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607429	COENZYME Q10 DEFICIENCY	OMIM	381	cd00385	50659086,NP_055132
23590	74744657	Disease	p.Asp308Glu	607429.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607429	COENZYME Q10 DEFICIENCY	OMIM	376	cd00685	50659086,NP_055132
23590	74744657	Disease	p.Asp308Glu	607429.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607429	COENZYME Q10 DEFICIENCY	OMIM	386	COG0142	50659086,NP_055132
10585	32171725	Disease	p.Gly76Arg	607423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPTHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1	OMIM	91	COG1928	116517319,NP_009102
10585	32171725	Disease	p.Gly76Arg	607423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPTHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1	OMIM	58	pfam02366	116517319,NP_009102
10585	209870084	Disease	p.Gly76Arg	607423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPTHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1	OMIM	216	COG1928	NULL
10585	209870084	Disease	p.Gly76Arg	607423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPTHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1	OMIM	188	pfam02366	NULL
10585	116517317	Disease	p.Gly76Arg	607423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPTHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1	OMIM	91	COG1928	NULL
10585	116517317	Disease	p.Gly76Arg	607423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPTHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1	OMIM	58	pfam02366	NULL
10585	116517315	Disease	p.Gly76Arg	607423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPTHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1	OMIM	153	COG1928	NULL
10585	116517315	Disease	p.Gly76Arg	607423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPTHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1	OMIM	118	pfam02366	NULL
10585	209870082	Disease	p.Gly76Arg	607423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPTHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1	OMIM	91	COG1928	NULL
10585	209870082	Disease	p.Gly76Arg	607423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPTHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1	OMIM	58	pfam02366	NULL
10585	32171725	Disease	p.Ala200Pro	607423.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1	OMIM	227	COG1928	116517319,NP_009102
10585	32171725	Disease	p.Ala200Pro	607423.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1	OMIM	195	pfam02366	116517319,NP_009102
10585	209870084	Disease	p.Ala200Pro	607423.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1	OMIM	343	COG1928	NULL
10585	209870084	Disease	p.Ala200Pro	607423.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1	OMIM	23	smart00472	NULL
10585	116517317	Disease	p.Ala200Pro	607423.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1	OMIM	227	COG1928	NULL
10585	116517317	Disease	p.Ala200Pro	607423.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1	OMIM	195	pfam02366	NULL
10585	116517315	Disease	p.Ala200Pro	607423.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1	OMIM	282	COG1928	NULL
10585	116517315	Disease	p.Ala200Pro	607423.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1	OMIM	277	pfam02366	NULL
10585	209870082	Disease	p.Ala200Pro	607423.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1	OMIM	227	COG1928	NULL
10585	209870082	Disease	p.Ala200Pro	607423.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1	OMIM	195	pfam02366	NULL
10585	32171725	Disease	p.Gly65Arg	607423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	74	COG1928	116517319,NP_009102
10585	32171725	Disease	p.Gly65Arg	607423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	46	pfam02366	116517319,NP_009102
10585	209870084	Disease	p.Gly65Arg	607423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	205	COG1928	NULL
10585	209870084	Disease	p.Gly65Arg	607423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	177	pfam02366	NULL
10585	116517317	Disease	p.Gly65Arg	607423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	74	COG1928	NULL
10585	116517317	Disease	p.Gly65Arg	607423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	46	pfam02366	NULL
10585	116517315	Disease	p.Gly65Arg	607423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	142	COG1928	NULL
10585	116517315	Disease	p.Gly65Arg	607423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	107	pfam02366	NULL
10585	209870082	Disease	p.Gly65Arg	607423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	74	COG1928	NULL
10585	209870082	Disease	p.Gly65Arg	607423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	46	pfam02366	NULL
10585	32171725	Disease	p.Trp582Cys	607423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	603	COG1928	116517319,NP_009102
10585	209870084	Disease	p.Trp582Cys	607423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	768	COG1928	NULL
10585	116517317	Disease	p.Trp582Cys	607423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	625	COG1928	NULL
10585	116517315	Disease	p.Trp582Cys	607423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	681	COG1928	NULL
10585	209870082	Disease	p.Trp582Cys	607423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	625	COG1928	NULL
10585	32171725	Disease	p.Gln590His	607423.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	611	COG1928	116517319,NP_009102
10585	209870084	Disease	p.Gln590His	607423.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	776	COG1928	NULL
10585	116517317	Disease	p.Gln590His	607423.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	633	COG1928	NULL
10585	116517315	Disease	p.Gln590His	607423.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	689	COG1928	NULL
10585	209870082	Disease	p.Gln590His	607423.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	633	COG1928	NULL
10585	32171725	Disease	p.Gly65Arg	607423.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	74	COG1928	116517319,NP_009102
10585	32171725	Disease	p.Gly65Arg	607423.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	46	pfam02366	116517319,NP_009102
10585	209870084	Disease	p.Gly65Arg	607423.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	205	COG1928	NULL
10585	209870084	Disease	p.Gly65Arg	607423.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	177	pfam02366	NULL
10585	116517317	Disease	p.Gly65Arg	607423.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	74	COG1928	NULL
10585	116517317	Disease	p.Gly65Arg	607423.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	46	pfam02366	NULL
10585	116517315	Disease	p.Gly65Arg	607423.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	142	COG1928	NULL
10585	116517315	Disease	p.Gly65Arg	607423.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	107	pfam02366	NULL
10585	209870082	Disease	p.Gly65Arg	607423.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	74	COG1928	NULL
10585	209870082	Disease	p.Gly65Arg	607423.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	46	pfam02366	NULL
10585	32171725	Disease	p.Gln590His	607423.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	611	COG1928	116517319,NP_009102
10585	209870084	Disease	p.Gln590His	607423.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	776	COG1928	NULL
10585	116517317	Disease	p.Gln590His	607423.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	633	COG1928	NULL
10585	116517315	Disease	p.Gln590His	607423.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	689	COG1928	NULL
10585	209870082	Disease	p.Gln590His	607423.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	633	COG1928	NULL
10585	32171725	Disease	p.Ala669Thr	607423.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	692	COG1928	116517319,NP_009102
10585	209870084	Disease	p.Ala669Thr	607423.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	No Domain	N/A	NULL
10585	116517317	Disease	p.Ala669Thr	607423.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	714	COG1928	NULL
10585	116517315	Disease	p.Ala669Thr	607423.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	792	COG1928	NULL
10585	209870082	Disease	p.Ala669Thr	607423.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607423	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	OMIM	714	COG1928	NULL
4158	399002	Disease	p.Ser74Ile	607397.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607397	GLUCOCORTICOID DEFICIENCY 1	OMIM	40	pfam10320	4505127,NP_000520
4158	399002	Disease	p.Ser74Ile	607397.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607397	GLUCOCORTICOID DEFICIENCY 1	OMIM	32	pfam00001	4505127,NP_000520
4158	399002	Disease	p.Ser120Arg	607397.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607397	GLUCOCORTICOID DEFICIENCY 1	OMIM	73	pfam10320	4505127,NP_000520
4158	399002	Disease	p.Ser120Arg	607397.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607397	GLUCOCORTICOID DEFICIENCY 1	OMIM	84	pfam00001	4505127,NP_000520
4158	399002	Disease	p.Arg128Cys	607397.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607397	GLUCOCORTICOID DEFICIENCY 1	OMIM	87	pfam10320	4505127,NP_000520
4158	399002	Disease	p.Arg128Cys	607397.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607397	GLUCOCORTICOID DEFICIENCY 1	OMIM	92	pfam00001	4505127,NP_000520
4158	399002	Disease	p.Asp107Asn	607397.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607397	GLUCOCORTICOID DEFICIENCY 1	OMIM	60	pfam10320	4505127,NP_000520
4158	399002	Disease	p.Asp107Asn	607397.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607397	GLUCOCORTICOID DEFICIENCY 1	OMIM	71	pfam00001	4505127,NP_000520
4158	399002	Disease	p.Cys251Phe	607397.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607397	GLUCOCORTICOID DEFICIENCY 1	OMIM	246	pfam10320	4505127,NP_000520
4158	399002	Disease	p.Cys251Phe	607397.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607397	GLUCOCORTICOID DEFICIENCY 1	OMIM	405	pfam00001	4505127,NP_000520
4158	399002	Disease	p.Arg137Trp	607397.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607397	GLUCOCORTICOID DEFICIENCY 1	OMIM	96	pfam10320	4505127,NP_000520
4158	399002	Disease	p.Arg137Trp	607397.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607397	GLUCOCORTICOID DEFICIENCY 1	OMIM	101	pfam00001	4505127,NP_000520
4158	399002	Disease	p.Tyr254Cys	607397.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607397	GLUCOCORTICOID DEFICIENCY 1	OMIM	249	pfam10320	4505127,NP_000520
4158	399002	Disease	p.Tyr254Cys	607397.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607397	GLUCOCORTICOID DEFICIENCY 1	OMIM	408	pfam00001	4505127,NP_000520
79577	74749063	Disease	p.Leu64Pro	607393.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607393	HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY	OMIM	No Domain	N/A	40018640,NP_078805
3990	194097335	Disease	p.Trp108Arg	607365.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607365	WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS	OMIM	124	pfam00151	NULL
3990	194097335	Disease	p.Trp108Arg	607365.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607365	WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS	OMIM	72	cd00707	NULL
326	4557293	Disease	p.Lys83Glu	607358.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607358	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I	OMIM	No Domain	N/A	NULL
326	3334119	Disease	p.Lys83Glu	607358.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607358	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I	OMIM	85	pfam03172	4557291,NP_000374
326	4557293	Disease	p.Gly228Trp	607358.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607358	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
326	3334119	Disease	p.Gly228Trp	607358.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607358	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT	OMIM	35	smart00258	4557291,NP_000374
326	3334119	Disease	p.Gly228Trp	607358.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607358	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT	OMIM	79	pfam01342	4557291,NP_000374
326	4557293	Disease	p.Met1Leu	607358.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607358	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I	OMIM	No Domain	N/A	NULL
326	3334119	Disease	p.Met1Leu	607358.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607358	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I	OMIM	No Domain	N/A	4557291,NP_000374
326	4557293	Disease	p.Val80Gly	607358.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607358	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I	OMIM	No Domain	N/A	NULL
326	3334119	Disease	p.Val80Gly	607358.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607358	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I	OMIM	82	pfam03172	4557291,NP_000374
57167	24212387	Disease	p.His888Arg	607343.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607343	DUANE-RADIAL RAY SYNDROME	OMIM	28	pfam00096	10047144,NP_065169
57167	24212387	Disease	p.His888Arg	607343.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607343	DUANE-RADIAL RAY SYNDROME	OMIM	28	smart00355	10047144,NP_065169
6100	38372427	Disease	p.His137Leu	607331.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607331	RETINITIS PIGMENTOSA 9	OMIM	No Domain	N/A	42718020,NP_976033
6100	38372427	Disease	p.Asp170Gly	607331.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607331	RETINITIS PIGMENTOSA 9	OMIM	No Domain	N/A	42718020,NP_976033
6716	39812447	Disease	p.Arg246Trp	607306.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607306	PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS	OMIM	159	pfam02544	NULL
6716	39812447	Disease	p.Leu55Gln	607306.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607306	PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS	OMIM	No Domain	N/A	NULL
6716	39812447	Disease	p.Gly115Asp	607306.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607306	PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS	OMIM	11	pfam02544	NULL
6716	39812447	Disease	p.Gly183Ser	607306.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607306	PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS	OMIM	92	pfam02544	NULL
6716	39812447	Disease	p.Ala228Thr	607306.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607306	PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS	OMIM	140	pfam02544	NULL
6716	39812447	Disease	p.Gly196Ser	607306.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607306	PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS	OMIM	105	pfam02544	NULL
6716	39812447	Disease	p.His231Arg	607306.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607306	PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS	OMIM	143	pfam02544	NULL
6716	39812447	Disease	p.Ala49Thr	607306.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607306	STEROID 5-ALPHA-REDUCTASE POLYMORPHISM	OMIM	No Domain	N/A	NULL
6716	39812447	Disease	p.Pro212Arg	607306.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607306	PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS	OMIM	121	pfam02544	NULL
6716	39812447	Disease	p.Glu197Asp	607306.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607306	PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS	OMIM	106	pfam02544	NULL
6716	39812447	Disease	p.Arg227Gln	607306.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607306	MICROPENIS	OMIM	139	pfam02544	NULL
9129	37082334	Disease	p.Thr494Met	607301.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607301	RETINITIS PIGMENTOSA 18	OMIM	311	pfam08572	4758556,NP_004689
9129	37082334	Disease	p.Pro493Ser	607301.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607301	RETINITIS PIGMENTOSA 18	OMIM	310	pfam08572	4758556,NP_004689
9129	37082334	Disease	p.Ala489Asp	607301.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607301	RETINITIS PIGMENTOSA 18	OMIM	305	pfam08572	4758556,NP_004689
10594	67460824	Disease	p.His2309Arg	607300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607300	RETINITIS PIGMENTOSA 13	OMIM	421	cd08056	91208426,NP_006436
10594	67460824	Disease	p.His2309Arg	607300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607300	RETINITIS PIGMENTOSA 13	OMIM	2474	COG5178	91208426,NP_006436
10594	67460824	Disease	p.His2309Arg	607300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607300	RETINITIS PIGMENTOSA 13	OMIM	106	pfam08084	91208426,NP_006436
10594	67460824	Disease	p.His2309Pro	607300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607300	RETINITIS PIGMENTOSA 13	OMIM	421	cd08056	91208426,NP_006436
10594	67460824	Disease	p.His2309Pro	607300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607300	RETINITIS PIGMENTOSA 13	OMIM	2474	COG5178	91208426,NP_006436
10594	67460824	Disease	p.His2309Pro	607300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607300	RETINITIS PIGMENTOSA 13	OMIM	106	pfam08084	91208426,NP_006436
10594	67460824	Disease	p.Arg2310Lys	607300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607300	RETINITIS PIGMENTOSA 13	OMIM	422	cd08056	91208426,NP_006436
10594	67460824	Disease	p.Arg2310Lys	607300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607300	RETINITIS PIGMENTOSA 13	OMIM	2475	COG5178	91208426,NP_006436
10594	67460824	Disease	p.Arg2310Lys	607300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607300	RETINITIS PIGMENTOSA 13	OMIM	107	pfam08084	91208426,NP_006436
10594	67460824	Disease	p.Pro2301Thr	607300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607300	RETINITIS PIGMENTOSA 13	OMIM	413	cd08056	91208426,NP_006436
10594	67460824	Disease	p.Pro2301Thr	607300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607300	RETINITIS PIGMENTOSA 13	OMIM	2466	COG5178	91208426,NP_006436
10594	67460824	Disease	p.Pro2301Thr	607300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607300	RETINITIS PIGMENTOSA 13	OMIM	98	pfam08084	91208426,NP_006436
10594	67460824	Disease	p.Phe2304Leu	607300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607300	RETINITIS PIGMENTOSA 13	OMIM	416	cd08056	91208426,NP_006436
10594	67460824	Disease	p.Phe2304Leu	607300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607300	RETINITIS PIGMENTOSA 13	OMIM	2469	COG5178	91208426,NP_006436
10594	67460824	Disease	p.Phe2304Leu	607300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607300	RETINITIS PIGMENTOSA 13	OMIM	101	pfam08084	91208426,NP_006436
64218	29840871	Disease	p.Asp345His	607292.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607292	RETINITIS PIGMENTOSA 35||CONE-ROD DYSTROPHY 10	OMIM	528	smart00630	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	29840871	Disease	p.Asp345His	607292.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607292	RETINITIS PIGMENTOSA 35||CONE-ROD DYSTROPHY 10	OMIM	395	pfam01403	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	29840871	Disease	p.Asp345His	607292.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607292	RETINITIS PIGMENTOSA 35||CONE-ROD DYSTROPHY 10	OMIM	528	smart00630	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	29840871	Disease	p.Asp345His	607292.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607292	RETINITIS PIGMENTOSA 35||CONE-ROD DYSTROPHY 10	OMIM	395	pfam01403	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	29840871	Disease	p.Asp345His	607292.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607292	RETINITIS PIGMENTOSA 35||CONE-ROD DYSTROPHY 10	OMIM	528	smart00630	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	29840871	Disease	p.Asp345His	607292.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607292	RETINITIS PIGMENTOSA 35||CONE-ROD DYSTROPHY 10	OMIM	395	pfam01403	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	300863076	Disease	p.Asp345His	607292.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607292	RETINITIS PIGMENTOSA 35||CONE-ROD DYSTROPHY 10	OMIM	560	pfam01403	NULL
64218	29840871	Disease	p.Phe350Cys	607292.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607292	RETINITIS PIGMENTOSA 35||CONE-ROD DYSTROPHY 10	OMIM	533	smart00630	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	29840871	Disease	p.Phe350Cys	607292.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607292	RETINITIS PIGMENTOSA 35||CONE-ROD DYSTROPHY 10	OMIM	400	pfam01403	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	29840871	Disease	p.Phe350Cys	607292.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607292	RETINITIS PIGMENTOSA 35||CONE-ROD DYSTROPHY 10	OMIM	533	smart00630	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	29840871	Disease	p.Phe350Cys	607292.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607292	RETINITIS PIGMENTOSA 35||CONE-ROD DYSTROPHY 10	OMIM	400	pfam01403	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	29840871	Disease	p.Phe350Cys	607292.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607292	RETINITIS PIGMENTOSA 35||CONE-ROD DYSTROPHY 10	OMIM	533	smart00630	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	29840871	Disease	p.Phe350Cys	607292.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607292	RETINITIS PIGMENTOSA 35||CONE-ROD DYSTROPHY 10	OMIM	400	pfam01403	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	300863076	Disease	p.Phe350Cys	607292.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607292	RETINITIS PIGMENTOSA 35||CONE-ROD DYSTROPHY 10	OMIM	No Domain	N/A	NULL
64218	29840871	Disease	p.Arg713Gln	607292.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607292	RETINITIS PIGMENTOSA 35	OMIM	No Domain	N/A	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	29840871	Disease	p.Arg713Gln	607292.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607292	RETINITIS PIGMENTOSA 35	OMIM	No Domain	N/A	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	29840871	Disease	p.Arg713Gln	607292.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607292	RETINITIS PIGMENTOSA 35	OMIM	No Domain	N/A	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	300863076	Disease	p.Arg713Gln	607292.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607292	RETINITIS PIGMENTOSA 35	OMIM	No Domain	N/A	NULL
132884	38257827	Disease	p.Ile283Arg	607261.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607261	ELLIS-VAN CREVELD SYNDROME	OMIM	64	pfam12297	93277096,NP_667338
132884	260763994	Disease	p.Ile283Arg	607261.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607261	ELLIS-VAN CREVELD SYNDROME	OMIM	148	pfam12297	NULL
132884	38257827	Disease	p.Arg870Trp	607261.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607261	ELLIS-VAN CREVELD SYNDROME	OMIM	No Domain	N/A	93277096,NP_667338
132884	260763994	Disease	p.Arg870Trp	607261.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607261	ELLIS-VAN CREVELD SYNDROME	OMIM	No Domain	N/A	NULL
259236	212276469	Disease	p.Arg81Cys	607237.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607237	DEAFNESS, AUTOSOMAL RECESSIVE 6	OMIM	No Domain	N/A	158631211,NP_671729
259236	212276469	Disease	p.Arg84Trp	607237.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607237	DEAFNESS, AUTOSOMAL RECESSIVE 6	OMIM	No Domain	N/A	158631211,NP_671729
259236	212276469	Disease	p.Arg92Trp	607237.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607237	DEAFNESS, AUTOSOMAL RECESSIVE 6	OMIM	No Domain	N/A	158631211,NP_671729
261734	27923813	Disease	p.Phe991Ser	607215.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607215	NEPHRONOPHTHISIS 4	OMIM	No Domain	N/A	23510323,NP_055917
59344	27923803	Disease	p.Val500Phe	607206.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607206	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1	OMIM	459	pfam00305	182765464,NP_067641
59344	260166612	Disease	p.Val500Phe	607206.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607206	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1	OMIM	315	pfam00305	NULL
59344	27923803	Disease	p.Arg396Ser	607206.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607206	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1	OMIM	353	pfam00305	182765464,NP_067641
59344	260166612	Disease	p.Arg396Ser	607206.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607206	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1	OMIM	198	pfam00305	NULL
59344	27923803	Disease	p.Leu237Met	607206.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607206	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1	OMIM	132	pfam00305	182765464,NP_067641
59344	260166612	Disease	p.Leu237Met	607206.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607206	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1	OMIM	231	smart00308	NULL
59344	260166612	Disease	p.Leu237Met	607206.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607206	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1	OMIM	156	cd00113	NULL
59344	260166612	Disease	p.Leu237Met	607206.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607206	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1	OMIM	143	pfam01477	NULL
59344	260166612	Disease	p.Leu237Met	607206.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607206	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1	OMIM	116	cd01753	NULL
59344	260166612	Disease	p.Leu237Met	607206.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607206	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1	OMIM	150	cd01756	NULL
59344	260166612	Disease	p.Leu237Met	607206.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607206	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1	OMIM	97	cd02899	NULL
3664	3122293	Disease	p.Arg84Cys	607199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607199	POPLITEAL PTERYGIUM SYNDROME	OMIM	94	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Arg84Cys	607199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607199	POPLITEAL PTERYGIUM SYNDROME	OMIM	92	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Arg84Cys	607199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607199	POPLITEAL PTERYGIUM SYNDROME	OMIM	97	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Arg84His	607199.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607199	POPLITEAL PTERYGIUM SYNDROME	OMIM	94	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Arg84His	607199.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607199	POPLITEAL PTERYGIUM SYNDROME	OMIM	92	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Arg84His	607199.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607199	POPLITEAL PTERYGIUM SYNDROME	OMIM	97	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Ala2Val	607199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607199	VAN DER WOUDE SYNDROME	OMIM	No Domain	N/A	5453700,NP_006138
3664	3122293	Disease	p.Arg6Cys	607199.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607199	VAN DER WOUDE SYNDROME	OMIM	No Domain	N/A	5453700,NP_006138
3664	3122293	Disease	p.Arg400Trp	607199.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607199	VAN DER WOUDE SYNDROME	OMIM	256	pfam10401	5453700,NP_006138
3664	3122293	Disease	p.Arg45Gln	607199.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607199	VAN DER WOUDE SYNDROME	OMIM	39	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Arg45Gln	607199.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607199	VAN DER WOUDE SYNDROME	OMIM	44	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Arg45Gln	607199.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607199	VAN DER WOUDE SYNDROME	OMIM	38	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Pro396Ser	607199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607199	VAN DER WOUDE SYNDROME	OMIM	252	pfam10401	5453700,NP_006138
3664	3122293	Disease	p.Arg339Ile	607199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607199	VAN DER WOUDE SYNDROME-POPLITEAL PTERYGIUM SYNDROME	OMIM	164	pfam10401	5453700,NP_006138
55775	37999797	Disease	p.His493Arg	607198.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607198	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY	OMIM	472	pfam06087	20127586,NP_060789|57242805,NP_001008744
55775	37999797	Disease	p.His493Arg	607198.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607198	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY	OMIM	472	pfam06087	20127586,NP_060789|57242805,NP_001008744
78987	22095397	Disease	p.Arg329Cys	607170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	50	cd00053	NULL
78987	22095397	Disease	p.Arg329Cys	607170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	49	smart00181	NULL
78987	22095397	Disease	p.Arg329Cys	607170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	47	smart00179	NULL
78987	22095397	Disease	p.Arg329Cys	607170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	52	cd00054	NULL
78987	22095397	Disease	p.Arg329Cys	607170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	31	pfam07645	NULL
78987	72534728	Disease	p.Arg329Cys	607170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	50	cd00053	NULL
78987	72534728	Disease	p.Arg329Cys	607170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	49	smart00181	NULL
78987	72534728	Disease	p.Arg329Cys	607170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	47	smart00179	NULL
78987	72534728	Disease	p.Arg329Cys	607170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	52	cd00054	NULL
78987	72534728	Disease	p.Arg329Cys	607170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	31	pfam07645	NULL
78987	116734855	Disease	p.Arg329Cys	607170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	50	cd00053	NULL
78987	116734855	Disease	p.Arg329Cys	607170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	49	smart00181	NULL
78987	116734855	Disease	p.Arg329Cys	607170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	47	smart00179	NULL
78987	116734855	Disease	p.Arg329Cys	607170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	52	cd00054	NULL
78987	116734855	Disease	p.Arg329Cys	607170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	31	pfam07645	NULL
78987	22095397	Disease	p.Thr311Ile	607170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	16	cd00053	NULL
78987	22095397	Disease	p.Thr311Ile	607170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	4	smart00181	NULL
78987	22095397	Disease	p.Thr311Ile	607170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	7	smart00179	NULL
78987	22095397	Disease	p.Thr311Ile	607170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	7	cd00054	NULL
78987	22095397	Disease	p.Thr311Ile	607170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	7	pfam07645	NULL
78987	72534728	Disease	p.Thr311Ile	607170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	16	cd00053	NULL
78987	72534728	Disease	p.Thr311Ile	607170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	4	smart00181	NULL
78987	72534728	Disease	p.Thr311Ile	607170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	7	smart00179	NULL
78987	72534728	Disease	p.Thr311Ile	607170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	7	cd00054	NULL
78987	72534728	Disease	p.Thr311Ile	607170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	7	pfam07645	NULL
78987	116734855	Disease	p.Thr311Ile	607170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	16	cd00053	NULL
78987	116734855	Disease	p.Thr311Ile	607170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	4	smart00181	NULL
78987	116734855	Disease	p.Thr311Ile	607170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	7	smart00179	NULL
78987	116734855	Disease	p.Thr311Ile	607170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	7	cd00054	NULL
78987	116734855	Disease	p.Thr311Ile	607170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	7	pfam07645	NULL
78987	22095397	Disease	p.Arg107His	607170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME	OMIM	177	pfam11938	NULL
78987	72534728	Disease	p.Arg107His	607170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME	OMIM	177	pfam11938	NULL
78987	116734855	Disease	p.Arg107His	607170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME	OMIM	177	pfam11938	NULL
78987	22095397	Disease	p.Pro162Ala	607170.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	No Domain	N/A	NULL
78987	72534728	Disease	p.Pro162Ala	607170.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	No Domain	N/A	NULL
78987	116734855	Disease	p.Pro162Ala	607170.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	No Domain	N/A	NULL
78987	22095397	Disease	p.Glu414Lys	607170.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	No Domain	N/A	NULL
78987	72534728	Disease	p.Glu414Lys	607170.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	No Domain	N/A	NULL
78987	116734855	Disease	p.Glu414Lys	607170.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607170	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2	OMIM	No Domain	N/A	NULL
79087	45476971	Disease	p.Phe142Val	607144.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607144	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig	OMIM	216	pfam03901	13129114,NP_077010
79087	45476971	Disease	p.Thr61Met	607144.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607144	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig	OMIM	53	pfam03901	13129114,NP_077010
79087	45476971	Disease	p.Arg146Gln	607144.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607144	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig	OMIM	220	pfam03901	13129114,NP_077010
79087	45476971	Disease	p.Gly101Arg	607144.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607144	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig	OMIM	137	pfam03901	13129114,NP_077010
79087	45476971	Disease	p.Leu158Pro	607144.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607144	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig	OMIM	232	pfam03901	13129114,NP_077010
128674	33112425	Disease	p.Leu173Arg	607123.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607123	KALLMANN SYNDROME 3	OMIM	116	pfam00001	21426829,NP_658986
128674	33112425	Disease	p.Gln210Arg	607123.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607123	KALLMANN SYNDROME 3	OMIM	161	pfam00001	21426829,NP_658986
128674	33112425	Disease	p.Arg85His	607123.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607123	KALLMANN SYNDROME 3	OMIM	10	pfam00001	21426829,NP_658986
128674	33112425	Disease	p.Met323Ile	607123.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607123	KALLMANN SYNDROME 3	OMIM	420	pfam00001	21426829,NP_658986
5080	4580424	Disease	p.Arg26Gly	607108.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||ANIRIDIA	OMIM	23	cd00131	NULL
5080	4580424	Disease	p.Arg26Gly	607108.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||ANIRIDIA	OMIM	23	pfam00292	NULL
5080	4580424	Disease	p.Arg26Gly	607108.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||ANIRIDIA	OMIM	23	smart00351	NULL
5080	6174889	Disease	p.Arg26Gly	607108.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||ANIRIDIA	OMIM	23	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg26Gly	607108.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||ANIRIDIA	OMIM	23	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg26Gly	607108.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||ANIRIDIA	OMIM	23	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg26Gly	607108.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||ANIRIDIA	OMIM	10	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg26Gly	607108.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||ANIRIDIA	OMIM	23	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg26Gly	607108.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||ANIRIDIA	OMIM	23	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg26Gly	607108.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||ANIRIDIA	OMIM	23	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg26Gly	607108.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||ANIRIDIA	OMIM	10	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	4580424	Disease	p.Arg125Cys	607108.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	FOVEAL HYPOPLASIA, ISOLATED	OMIM	109	cd00131	NULL
5080	4580424	Disease	p.Arg125Cys	607108.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	FOVEAL HYPOPLASIA, ISOLATED	OMIM	109	pfam00292	NULL
5080	4580424	Disease	p.Arg125Cys	607108.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	FOVEAL HYPOPLASIA, ISOLATED	OMIM	110	smart00351	NULL
5080	6174889	Disease	p.Arg125Cys	607108.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	FOVEAL HYPOPLASIA, ISOLATED	OMIM	123	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg125Cys	607108.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	FOVEAL HYPOPLASIA, ISOLATED	OMIM	124	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg125Cys	607108.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	FOVEAL HYPOPLASIA, ISOLATED	OMIM	123	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg125Cys	607108.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	FOVEAL HYPOPLASIA, ISOLATED	OMIM	123	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg125Cys	607108.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	FOVEAL HYPOPLASIA, ISOLATED	OMIM	124	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg125Cys	607108.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	FOVEAL HYPOPLASIA, ISOLATED	OMIM	123	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	4580424	Disease	p.Val126Asp	607108.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA, ATYPICAL	OMIM	110	cd00131	NULL
5080	4580424	Disease	p.Val126Asp	607108.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA, ATYPICAL	OMIM	110	pfam00292	NULL
5080	4580424	Disease	p.Val126Asp	607108.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA, ATYPICAL	OMIM	111	smart00351	NULL
5080	6174889	Disease	p.Val126Asp	607108.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA, ATYPICAL	OMIM	124	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val126Asp	607108.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA, ATYPICAL	OMIM	125	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val126Asp	607108.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA, ATYPICAL	OMIM	124	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val126Asp	607108.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA, ATYPICAL	OMIM	124	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val126Asp	607108.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA, ATYPICAL	OMIM	125	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val126Asp	607108.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA, ATYPICAL	OMIM	124	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	4580424	Disease	p.Gly64Val	607108.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME	OMIM	47	cd00131	NULL
5080	4580424	Disease	p.Gly64Val	607108.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME	OMIM	47	pfam00292	NULL
5080	4580424	Disease	p.Gly64Val	607108.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME	OMIM	47	smart00351	NULL
5080	6174889	Disease	p.Gly64Val	607108.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME	OMIM	61	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly64Val	607108.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME	OMIM	61	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly64Val	607108.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME	OMIM	61	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly64Val	607108.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME	OMIM	55	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly64Val	607108.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME	OMIM	61	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly64Val	607108.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME	OMIM	61	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly64Val	607108.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME	OMIM	61	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly64Val	607108.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME	OMIM	55	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	4580424	Disease	p.Val54Asp	607108.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||CATARACT, AUTOSOMAL DOMINANT||FOVEAL HYPOPLASIA||FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES	OMIM	44_G	cd00131	NULL
5080	4580424	Disease	p.Val54Asp	607108.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||CATARACT, AUTOSOMAL DOMINANT||FOVEAL HYPOPLASIA||FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES	OMIM	44_G	pfam00292	NULL
5080	4580424	Disease	p.Val54Asp	607108.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||CATARACT, AUTOSOMAL DOMINANT||FOVEAL HYPOPLASIA||FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES	OMIM	44_G	smart00351	NULL
5080	6174889	Disease	p.Val54Asp	607108.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||CATARACT, AUTOSOMAL DOMINANT||FOVEAL HYPOPLASIA||FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES	OMIM	51	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val54Asp	607108.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||CATARACT, AUTOSOMAL DOMINANT||FOVEAL HYPOPLASIA||FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES	OMIM	51	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val54Asp	607108.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||CATARACT, AUTOSOMAL DOMINANT||FOVEAL HYPOPLASIA||FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES	OMIM	51	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val54Asp	607108.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||CATARACT, AUTOSOMAL DOMINANT||FOVEAL HYPOPLASIA||FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES	OMIM	45	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val54Asp	607108.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||CATARACT, AUTOSOMAL DOMINANT||FOVEAL HYPOPLASIA||FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES	OMIM	51	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val54Asp	607108.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||CATARACT, AUTOSOMAL DOMINANT||FOVEAL HYPOPLASIA||FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES	OMIM	51	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val54Asp	607108.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||CATARACT, AUTOSOMAL DOMINANT||FOVEAL HYPOPLASIA||FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES	OMIM	51	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val54Asp	607108.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	PETERS ANOMALY||CATARACT, AUTOSOMAL DOMINANT||FOVEAL HYPOPLASIA||FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES	OMIM	45	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	4580424	Disease	p.Pro68Ser	607108.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	MORNING GLORY DISC ANOMALY	OMIM	51	cd00131	NULL
5080	4580424	Disease	p.Pro68Ser	607108.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	MORNING GLORY DISC ANOMALY	OMIM	51	pfam00292	NULL
5080	4580424	Disease	p.Pro68Ser	607108.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	MORNING GLORY DISC ANOMALY	OMIM	51	smart00351	NULL
5080	6174889	Disease	p.Pro68Ser	607108.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	MORNING GLORY DISC ANOMALY	OMIM	65	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Pro68Ser	607108.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	MORNING GLORY DISC ANOMALY	OMIM	65	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Pro68Ser	607108.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	MORNING GLORY DISC ANOMALY	OMIM	65	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Pro68Ser	607108.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	MORNING GLORY DISC ANOMALY	OMIM	59	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Pro68Ser	607108.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	MORNING GLORY DISC ANOMALY	OMIM	65	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Pro68Ser	607108.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	MORNING GLORY DISC ANOMALY	OMIM	65	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Pro68Ser	607108.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	MORNING GLORY DISC ANOMALY	OMIM	65	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Pro68Ser	607108.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	MORNING GLORY DISC ANOMALY	OMIM	59	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	4580424	Disease	p.Phe258Ser	607108.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	COLOBOMA OF OPTIC NERVE||COLOBOMA, OCULAR	OMIM	85	COG5576	NULL
5080	4580424	Disease	p.Phe258Ser	607108.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	COLOBOMA OF OPTIC NERVE||COLOBOMA, OCULAR	OMIM	39	pfam00046	NULL
5080	4580424	Disease	p.Phe258Ser	607108.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	COLOBOMA OF OPTIC NERVE||COLOBOMA, OCULAR	OMIM	53	smart00389	NULL
5080	4580424	Disease	p.Phe258Ser	607108.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	COLOBOMA OF OPTIC NERVE||COLOBOMA, OCULAR	OMIM	45	cd00086	NULL
5080	6174889	Disease	p.Phe258Ser	607108.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	COLOBOMA OF OPTIC NERVE||COLOBOMA, OCULAR	OMIM	101	COG5576	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Phe258Ser	607108.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	COLOBOMA OF OPTIC NERVE||COLOBOMA, OCULAR	OMIM	80	cd00086	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Phe258Ser	607108.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	COLOBOMA OF OPTIC NERVE||COLOBOMA, OCULAR	OMIM	88	smart00389	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Phe258Ser	607108.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	COLOBOMA OF OPTIC NERVE||COLOBOMA, OCULAR	OMIM	58	pfam00046	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Phe258Ser	607108.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	COLOBOMA OF OPTIC NERVE||COLOBOMA, OCULAR	OMIM	101	COG5576	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Phe258Ser	607108.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	COLOBOMA OF OPTIC NERVE||COLOBOMA, OCULAR	OMIM	80	cd00086	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Phe258Ser	607108.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	COLOBOMA OF OPTIC NERVE||COLOBOMA, OCULAR	OMIM	88	smart00389	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Phe258Ser	607108.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	COLOBOMA OF OPTIC NERVE||COLOBOMA, OCULAR	OMIM	58	pfam00046	4505615,NP_000271|189083681,NP_001121084
5080	4580424	Disease	p.Thr391Ala	607108.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	OPTIC NERVE APLASIA, BILATERAL	OMIM	No Domain	N/A	NULL
5080	6174889	Disease	p.Thr391Ala	607108.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	OPTIC NERVE APLASIA, BILATERAL	OMIM	No Domain	N/A	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Thr391Ala	607108.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	OPTIC NERVE APLASIA, BILATERAL	OMIM	No Domain	N/A	4505615,NP_000271|189083681,NP_001121084
5080	4580424	Disease	p.Arg24Thr	607108.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA	OMIM	21	cd00131	NULL
5080	4580424	Disease	p.Arg24Thr	607108.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA	OMIM	21	pfam00292	NULL
5080	4580424	Disease	p.Arg24Thr	607108.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA	OMIM	21	smart00351	NULL
5080	6174889	Disease	p.Arg24Thr	607108.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA	OMIM	21	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg24Thr	607108.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA	OMIM	21	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg24Thr	607108.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA	OMIM	21	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg24Thr	607108.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA	OMIM	8	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg24Thr	607108.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA	OMIM	21	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg24Thr	607108.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA	OMIM	21	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg24Thr	607108.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA	OMIM	21	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg24Thr	607108.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA	OMIM	8	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	4580424	Disease	p.Ser119Arg	607108.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA	OMIM	103	cd00131	NULL
5080	4580424	Disease	p.Ser119Arg	607108.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA	OMIM	103	pfam00292	NULL
5080	4580424	Disease	p.Ser119Arg	607108.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA	OMIM	104	smart00351	NULL
5080	6174889	Disease	p.Ser119Arg	607108.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA	OMIM	117	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ser119Arg	607108.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA	OMIM	118	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ser119Arg	607108.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA	OMIM	117	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ser119Arg	607108.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA	OMIM	117	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ser119Arg	607108.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA	OMIM	118	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ser119Arg	607108.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607108	ANIRIDIA	OMIM	117	cd00131	4505615,NP_000271|189083681,NP_001121084
7490	309951099	Disease	p.Arg394Trp	607102.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME||MEACHAM SYNDROME||NEPHROTIC SYNDROME TYPE 4	OMIM	No Domain	N/A	NULL
7490	309951097	Disease	p.Arg394Trp	607102.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME||MEACHAM SYNDROME||NEPHROTIC SYNDROME TYPE 4	OMIM	No Domain	N/A	NULL
7490	65507714	Disease	p.Arg394Trp	607102.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME||MEACHAM SYNDROME||NEPHROTIC SYNDROME TYPE 4	OMIM	28	pfam00096	NULL
7490	65507817	Disease	p.Arg394Trp	607102.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME||MEACHAM SYNDROME||NEPHROTIC SYNDROME TYPE 4	OMIM	4	pfam00096	NULL
7490	65508004	Disease	p.Arg394Trp	607102.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME||MEACHAM SYNDROME||NEPHROTIC SYNDROME TYPE 4	OMIM	4	pfam00096	NULL
7490	309951099	Disease	p.Arg366His	607102.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	No Domain	N/A	NULL
7490	309951097	Disease	p.Arg366His	607102.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	No Domain	N/A	NULL
7490	65507714	Disease	p.Arg366His	607102.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	352	pfam02165	NULL
7490	65507817	Disease	p.Arg366His	607102.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	335	pfam02165	NULL
7490	65508004	Disease	p.Arg366His	607102.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	335	pfam02165	NULL
7490	309951099	Disease	p.Asp396Gly	607102.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	No Domain	N/A	NULL
7490	309951097	Disease	p.Asp396Gly	607102.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	No Domain	N/A	NULL
7490	65507714	Disease	p.Asp396Gly	607102.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	30	pfam00096	NULL
7490	65507817	Disease	p.Asp396Gly	607102.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	7	pfam00096	NULL
7490	65508004	Disease	p.Asp396Gly	607102.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	7	pfam00096	NULL
7490	309951099	Disease	p.Asp396Asn	607102.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME||NEPHROTIC SYNDROME, TYPE 4	OMIM	No Domain	N/A	NULL
7490	309951097	Disease	p.Asp396Asn	607102.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME||NEPHROTIC SYNDROME, TYPE 4	OMIM	No Domain	N/A	NULL
7490	65507714	Disease	p.Asp396Asn	607102.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME||NEPHROTIC SYNDROME, TYPE 4	OMIM	30	pfam00096	NULL
7490	65507817	Disease	p.Asp396Asn	607102.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME||NEPHROTIC SYNDROME, TYPE 4	OMIM	7	pfam00096	NULL
7490	65508004	Disease	p.Asp396Asn	607102.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME||NEPHROTIC SYNDROME, TYPE 4	OMIM	7	pfam00096	NULL
7490	309951099	Disease	p.Arg394Pro	607102.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	No Domain	N/A	NULL
7490	309951097	Disease	p.Arg394Pro	607102.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	No Domain	N/A	NULL
7490	65507714	Disease	p.Arg394Pro	607102.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	28	pfam00096	NULL
7490	65507817	Disease	p.Arg394Pro	607102.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	4	pfam00096	NULL
7490	65508004	Disease	p.Arg394Pro	607102.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	4	pfam00096	NULL
7490	309951099	Disease	p.Cys330Tyr	607102.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	No Domain	N/A	NULL
7490	309951097	Disease	p.Cys330Tyr	607102.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	No Domain	N/A	NULL
7490	65507714	Disease	p.Cys330Tyr	607102.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	312	pfam02165	NULL
7490	65507817	Disease	p.Cys330Tyr	607102.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	293	pfam02165	NULL
7490	65508004	Disease	p.Cys330Tyr	607102.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	293	pfam02165	NULL
7490	309951099	Disease	p.His377Tyr	607102.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME||NEPHROTIC SYNDROME, TYPE 4	OMIM	No Domain	N/A	NULL
7490	309951097	Disease	p.His377Tyr	607102.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME||NEPHROTIC SYNDROME, TYPE 4	OMIM	No Domain	N/A	NULL
7490	65507714	Disease	p.His377Tyr	607102.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME||NEPHROTIC SYNDROME, TYPE 4	OMIM	4	pfam00096	NULL
7490	65507817	Disease	p.His377Tyr	607102.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME||NEPHROTIC SYNDROME, TYPE 4	OMIM	346	pfam02165	NULL
7490	65508004	Disease	p.His377Tyr	607102.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME||NEPHROTIC SYNDROME, TYPE 4	OMIM	346	pfam02165	NULL
7490	309951099	Disease	p.Cys360Gly	607102.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	No Domain	N/A	NULL
7490	309951097	Disease	p.Cys360Gly	607102.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	No Domain	N/A	NULL
7490	65507714	Disease	p.Cys360Gly	607102.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	346	pfam02165	NULL
7490	65507817	Disease	p.Cys360Gly	607102.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	327	pfam02165	NULL
7490	65508004	Disease	p.Cys360Gly	607102.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	327	pfam02165	NULL
7490	309951099	Disease	p.His373Gln	607102.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	No Domain	N/A	NULL
7490	309951097	Disease	p.His373Gln	607102.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	No Domain	N/A	NULL
7490	65507714	Disease	p.His373Gln	607102.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	No Domain	N/A	NULL
7490	65507817	Disease	p.His373Gln	607102.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	342	pfam02165	NULL
7490	65508004	Disease	p.His373Gln	607102.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	DENYS-DRASH SYNDROME	OMIM	342	pfam02165	NULL
7490	309951099	Disease	p.Ser273Gly	607102.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	MESOTHELIOMA, SOMATIC	OMIM	28	smart00355	NULL
7490	309951099	Disease	p.Ser273Gly	607102.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	MESOTHELIOMA, SOMATIC	OMIM	28	pfam00096	NULL
7490	309951097	Disease	p.Ser273Gly	607102.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	MESOTHELIOMA, SOMATIC	OMIM	7	smart00355	NULL
7490	309951097	Disease	p.Ser273Gly	607102.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	MESOTHELIOMA, SOMATIC	OMIM	8	pfam00096	NULL
7490	65507714	Disease	p.Ser273Gly	607102.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	MESOTHELIOMA, SOMATIC	OMIM	234	pfam02165	NULL
7490	65507817	Disease	p.Ser273Gly	607102.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	MESOTHELIOMA, SOMATIC	OMIM	234	pfam02165	NULL
7490	65508004	Disease	p.Ser273Gly	607102.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	MESOTHELIOMA, SOMATIC	OMIM	234	pfam02165	NULL
79742	193804856	Disease	p.Ser273Gly	607102.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	MOVED TO 607102.0014	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Ser273Gly	607102.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	MOVED TO 607102.0014	OMIM	No Domain	N/A	193804854,NP_789789
7490	309951099	Disease	p.Phe383Leu	607102.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	NEPHROTIC SYNDROME, TYPE 4	OMIM	No Domain	N/A	NULL
7490	309951097	Disease	p.Phe383Leu	607102.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	NEPHROTIC SYNDROME, TYPE 4	OMIM	No Domain	N/A	NULL
7490	65507714	Disease	p.Phe383Leu	607102.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	NEPHROTIC SYNDROME, TYPE 4	OMIM	14	pfam00096	NULL
7490	65507817	Disease	p.Phe383Leu	607102.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	NEPHROTIC SYNDROME, TYPE 4	OMIM	352	pfam02165	NULL
7490	65508004	Disease	p.Phe383Leu	607102.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	NEPHROTIC SYNDROME, TYPE 4	OMIM	352	pfam02165	NULL
79742	193804856	Disease	p.Phe383Leu	607102.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	MOVED TO 607102.0006	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Phe383Leu	607102.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	MOVED TO 607102.0006	OMIM	No Domain	N/A	193804854,NP_789789
7490	309951099	Disease	p.Phe392Leu	607102.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	FRASIER SYNDROME	OMIM	No Domain	N/A	NULL
7490	309951097	Disease	p.Phe392Leu	607102.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	FRASIER SYNDROME	OMIM	No Domain	N/A	NULL
7490	65507714	Disease	p.Phe392Leu	607102.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	FRASIER SYNDROME	OMIM	26	pfam00096	NULL
7490	65507817	Disease	p.Phe392Leu	607102.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	FRASIER SYNDROME	OMIM	2	pfam00096	NULL
7490	65508004	Disease	p.Phe392Leu	607102.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	FRASIER SYNDROME	OMIM	2	pfam00096	NULL
7490	309951099	Disease	p.Arg366Cys	607102.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	MEACHAM SYNDROME	OMIM	No Domain	N/A	NULL
7490	309951097	Disease	p.Arg366Cys	607102.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	MEACHAM SYNDROME	OMIM	No Domain	N/A	NULL
7490	65507714	Disease	p.Arg366Cys	607102.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	MEACHAM SYNDROME	OMIM	352	pfam02165	NULL
7490	65507817	Disease	p.Arg366Cys	607102.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	MEACHAM SYNDROME	OMIM	335	pfam02165	NULL
7490	65508004	Disease	p.Arg366Cys	607102.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607102	MEACHAM SYNDROME	OMIM	335	pfam02165	NULL
4867	46397398	Disease	p.Gly343Arg	607100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607100	NEPHRONOPHTHISIS 1	OMIM	No Domain	N/A	NULL
4867	17367909	Disease	p.Gly343Arg	607100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607100	NEPHRONOPHTHISIS 1	OMIM	No Domain	N/A	189491774,NP_997064
4867	189491778	Disease	p.Gly343Arg	607100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607100	NEPHRONOPHTHISIS 1	OMIM	No Domain	N/A	NULL
4867	189491776	Disease	p.Gly343Arg	607100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607100	NEPHRONOPHTHISIS 1	OMIM	No Domain	N/A	NULL
116085	24497487	Disease	p.Thr217Met	607096.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607096	HYPOURICEMIA, RENAL, 1	OMIM	No Domain	N/A	NULL
116085	74732700	Disease	p.Thr217Met	607096.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607096	HYPOURICEMIA, RENAL, 1	OMIM	205	pfam00083	24497485,NP_653186
116085	74732700	Disease	p.Thr217Met	607096.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607096	HYPOURICEMIA, RENAL, 1	OMIM	248	pfam07690	24497485,NP_653186
116085	74732700	Disease	p.Thr217Met	607096.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607096	HYPOURICEMIA, RENAL, 1	OMIM	223	cd06174	24497485,NP_653186
116085	24497487	Disease	p.Glu298Asp	607096.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607096	HYPOURICEMIA, RENAL, 1	OMIM	No Domain	N/A	NULL
116085	74732700	Disease	p.Glu298Asp	607096.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607096	HYPOURICEMIA, RENAL, 1	OMIM	308	pfam00083	24497485,NP_653186
116085	74732700	Disease	p.Glu298Asp	607096.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607096	HYPOURICEMIA, RENAL, 1	OMIM	403	pfam07690	24497485,NP_653186
116085	74732700	Disease	p.Glu298Asp	607096.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607096	HYPOURICEMIA, RENAL, 1	OMIM	369	cd06174	24497485,NP_653186
116085	24497487	Disease	p.Leu418Arg	607096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607096	HYPOURICEMIA, RENAL, 1	OMIM	No Domain	N/A	NULL
116085	74732700	Disease	p.Leu418Arg	607096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607096	HYPOURICEMIA, RENAL, 1	OMIM	466	pfam00083	24497485,NP_653186
116085	74732700	Disease	p.Leu418Arg	607096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607096	HYPOURICEMIA, RENAL, 1	OMIM	626	pfam07690	24497485,NP_653186
116085	74732700	Disease	p.Leu418Arg	607096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607096	HYPOURICEMIA, RENAL, 1	OMIM	641	cd06174	24497485,NP_653186
116085	24497487	Disease	p.Arg90His	607096.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607096	HYPOURICEMIA, RENAL, 1	OMIM	No Domain	N/A	NULL
116085	74732700	Disease	p.Arg90His	607096.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607096	HYPOURICEMIA, RENAL, 1	OMIM	No Domain	N/A	24497485,NP_653186
116085	24497487	Disease	p.Gly361Val	607096.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607096	HYPOURICEMIA, RENAL, 1	OMIM	No Domain	N/A	NULL
116085	74732700	Disease	p.Gly361Val	607096.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607096	HYPOURICEMIA, RENAL, 1	OMIM	385	pfam00083	24497485,NP_653186
116085	74732700	Disease	p.Gly361Val	607096.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607096	HYPOURICEMIA, RENAL, 1	OMIM	521	pfam07690	24497485,NP_653186
116085	74732700	Disease	p.Gly361Val	607096.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607096	HYPOURICEMIA, RENAL, 1	OMIM	506	cd06174	24497485,NP_653186
4524	56405339	Disease	p.Arg158Gln	607093.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607093	HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY	OMIM	122	cd00537	87240000,NP_005948
4524	56405339	Disease	p.Arg158Gln	607093.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607093	HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY	OMIM	115	pfam02219	87240000,NP_005948
4524	56405339	Disease	p.Arg158Gln	607093.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607093	HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY	OMIM	128	COG0685	87240000,NP_005948
4524	56405339	Disease	p.Ala222Val	607093.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607093	MTHFR THERMOLABILE POLYMORPHISM	OMIM	231	cd00537	87240000,NP_005948
4524	56405339	Disease	p.Ala222Val	607093.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607093	MTHFR THERMOLABILE POLYMORPHISM	OMIM	199	pfam02219	87240000,NP_005948
4524	56405339	Disease	p.Ala222Val	607093.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607093	MTHFR THERMOLABILE POLYMORPHISM	OMIM	220	COG0685	87240000,NP_005948
4524	56405339	Disease	p.Glu429Ala	607093.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607093	MTHFR THERMOLABILE POLYMORPHISM||SCHIZOPHRENIA, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	87240000,NP_005948
4524	56405339	Disease	p.Asn324Ser	607093.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607093	HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY	OMIM	353	cd00537	87240000,NP_005948
4524	56405339	Disease	p.Asn324Ser	607093.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607093	HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY	OMIM	309	pfam02219	87240000,NP_005948
4524	56405339	Disease	p.Asn324Ser	607093.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607093	HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY	OMIM	334	COG0685	87240000,NP_005948
4524	56405339	Disease	p.Trp339Gly	607093.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607093	HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY	OMIM	349	COG0685	87240000,NP_005948
4524	56405339	Disease	p.Met581Ile	607093.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607093	NITROUS OXIDE SENSITIVITY IN MTHFR DEFICIENCY	OMIM	No Domain	N/A	87240000,NP_005948
4524	56405339	Disease	p.Arg377Cys	607093.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607093	HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY	OMIM	No Domain	N/A	87240000,NP_005948
4524	56405339	Disease	p.Leu323Pro	607093.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607093	HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY	OMIM	352	cd00537	87240000,NP_005948
4524	56405339	Disease	p.Leu323Pro	607093.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607093	HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY	OMIM	308	pfam02219	87240000,NP_005948
4524	56405339	Disease	p.Leu323Pro	607093.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607093	HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY	OMIM	333	COG0685	87240000,NP_005948
6677	585673	Disease	p.Glu268Lys	607071.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607071	MUCOPOLYSACCHARIDOSIS TYPE IX	OMIM	240	pfam01630	291290979,NP_001167515|291290983,NP_001167517|23510418,NP_694859|291290981,NP_001167516
6677	585673	Disease	p.Glu268Lys	607071.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607071	MUCOPOLYSACCHARIDOSIS TYPE IX	OMIM	240	pfam01630	291290979,NP_001167515|291290983,NP_001167517|23510418,NP_694859|291290981,NP_001167516
6677	21314606	Disease	p.Glu268Lys	607071.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607071	MUCOPOLYSACCHARIDOSIS TYPE IX	OMIM	240	pfam01630	NULL
6677	585673	Disease	p.Glu268Lys	607071.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607071	MUCOPOLYSACCHARIDOSIS TYPE IX	OMIM	240	pfam01630	291290979,NP_001167515|291290983,NP_001167517|23510418,NP_694859|291290981,NP_001167516
6677	585673	Disease	p.Glu268Lys	607071.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607071	MUCOPOLYSACCHARIDOSIS TYPE IX	OMIM	240	pfam01630	291290979,NP_001167515|291290983,NP_001167517|23510418,NP_694859|291290981,NP_001167516
55630	115430259	Disease	p.Pro200Leu	607059.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	No Domain	N/A	NULL
55630	296452970	Disease	p.Pro200Leu	607059.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	No Domain	N/A	115430255,NP_570901
55630	115430259	Disease	p.Gly526Arg	607059.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	344	COG0428	NULL
55630	115430259	Disease	p.Gly526Arg	607059.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	467	pfam02535	NULL
55630	296452970	Disease	p.Gly526Arg	607059.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	442	pfam02535	115430255,NP_570901
55630	296452970	Disease	p.Gly526Arg	607059.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	319	COG0428	115430255,NP_570901
55630	115430259	Disease	p.Gly374Arg	607059.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	103	COG0428	NULL
55630	115430259	Disease	p.Gly374Arg	607059.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	108	pfam02535	NULL
55630	296452970	Disease	p.Gly374Arg	607059.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	79	pfam02535	115430255,NP_570901
55630	296452970	Disease	p.Gly374Arg	607059.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	77_G	COG0428	115430255,NP_570901
55630	115430259	Disease	p.Asn106Lys	607059.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	No Domain	N/A	NULL
55630	296452970	Disease	p.Asn106Lys	607059.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	No Domain	N/A	115430255,NP_570901
55630	115430259	Disease	p.Gly330Asp	607059.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	60	COG0428	NULL
55630	115430259	Disease	p.Gly330Asp	607059.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	60	pfam02535	NULL
55630	296452970	Disease	p.Gly330Asp	607059.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	8	pfam02535	115430255,NP_570901
55630	296452970	Disease	p.Gly330Asp	607059.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	10	COG0428	115430255,NP_570901
55630	115430259	Disease	p.Arg95Cys	607059.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	No Domain	N/A	NULL
55630	296452970	Disease	p.Arg95Cys	607059.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	No Domain	N/A	115430255,NP_570901
55630	115430259	Disease	p.Gln303His	607059.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	8	COG0428	NULL
55630	115430259	Disease	p.Gln303His	607059.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	6	pfam02535	NULL
55630	296452970	Disease	p.Gln303His	607059.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607059	ACRODERMATITIS ENTEROPATHICA	OMIM	No Domain	N/A	115430255,NP_570901
50939	296439325	Disease	p.Phe124Leu	607056.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607056	MACULOPATHY, IMPG2-RELATED	OMIM	No Domain	N/A	57242793,NP_057331
1201	2498243	Disease	p.Glu295Lys	607042.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607042	CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED	OMIM	283	pfam02487	4502889,NP_000077|109698601,NP_001035897
1201	2498243	Disease	p.Glu295Lys	607042.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607042	CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED	OMIM	283	pfam02487	4502889,NP_000077|109698601,NP_001035897
85320	74762666	Disease	p.Gly180Arg	607040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607040	EAR WAX, WET/DRY	OMIM	22	pfam00664	15149474,NP_149163|21729873,NP_115972
85320	74762666	Disease	p.Gly180Arg	607040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607040	EAR WAX, WET/DRY	OMIM	58	COG1132	15149474,NP_149163|21729873,NP_115972
85320	21729876	Disease	p.Gly180Arg	607040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607040	EAR WAX, WET/DRY	OMIM	22	pfam00664	NULL
85320	21729876	Disease	p.Gly180Arg	607040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607040	EAR WAX, WET/DRY	OMIM	58	COG1132	NULL
85320	74762666	Disease	p.Gly180Arg	607040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607040	EAR WAX, WET/DRY	OMIM	22	pfam00664	15149474,NP_149163|21729873,NP_115972
85320	74762666	Disease	p.Gly180Arg	607040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607040	EAR WAX, WET/DRY	OMIM	58	COG1132	15149474,NP_149163|21729873,NP_115972
3712	226958414	Disease	p.Leu13Pro	607036.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	32	cd01161	NULL
3712	226958414	Disease	p.Leu13Pro	607036.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	5	COG1960	NULL
3712	226958414	Disease	p.Leu13Pro	607036.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	2	cd01156	NULL
3712	226958414	Disease	p.Leu13Pro	607036.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	11	cd01153	NULL
3712	226958412	Disease	p.Leu13Pro	607036.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	No Domain	N/A	NULL
3712	226958414	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	211	cd01154	NULL
3712	226958414	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	194	cd01155	NULL
3712	226958414	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	197	cd00567	NULL
3712	226958414	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	189	cd01161	NULL
3712	226958414	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	148	cd01163	NULL
3712	226958414	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	171	cd01151	NULL
3712	226958414	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	58	pfam02770	NULL
3712	226958414	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	287	COG1960	NULL
3712	226958414	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	157	cd01156	NULL
3712	226958414	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	167	cd01152	NULL
3712	226958414	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	154	cd01160	NULL
3712	226958414	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	156	cd01158	NULL
3712	226958414	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	165	cd01153	NULL
3712	226958414	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	157	cd01162	NULL
3712	226958414	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	153	cd01157	NULL
3712	226958412	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	138	cd01151	NULL
3712	226958412	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	238	COG1960	NULL
3712	226958412	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	153	cd00567	NULL
3712	226958412	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	163	cd01155	NULL
3712	226958412	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	125	cd01158	NULL
3712	226958412	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	137	cd01152	NULL
3712	226958412	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	124	cd01160	NULL
3712	226958412	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	179	cd01154	NULL
3712	226958412	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	7	pfam02770	NULL
3712	226958412	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	157	cd01161	NULL
3712	226958412	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	123	cd01162	NULL
3712	226958412	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	123	cd01157	NULL
3712	226958412	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	127	cd01156	NULL
3712	226958412	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	114	cd01163	NULL
3712	226958412	Disease	p.Gly170Val	607036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA, TYPE I	OMIM	130	cd01153	NULL
3712	226958414	Disease	p.Arg21Cys	607036.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	40	cd01161	NULL
3712	226958414	Disease	p.Arg21Cys	607036.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	21	cd01151	NULL
3712	226958414	Disease	p.Arg21Cys	607036.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	33	COG1960	NULL
3712	226958414	Disease	p.Arg21Cys	607036.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	10	cd01156	NULL
3712	226958414	Disease	p.Arg21Cys	607036.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	19	pfam02771	NULL
3712	226958414	Disease	p.Arg21Cys	607036.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	7	cd01152	NULL
3712	226958414	Disease	p.Arg21Cys	607036.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	7	cd01160	NULL
3712	226958414	Disease	p.Arg21Cys	607036.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	14_G	cd01153	NULL
3712	226958414	Disease	p.Arg21Cys	607036.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	5	cd01157	NULL
3712	226958412	Disease	p.Arg21Cys	607036.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	No Domain	N/A	NULL
3712	226958414	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	338	cd01154	NULL
3712	226958414	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	326	cd01155	NULL
3712	226958414	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	348	cd00567	NULL
3712	226958414	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	304	cd01161	NULL
3712	226958414	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	268	cd01163	NULL
3712	226958414	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	286	cd01151	NULL
3712	226958414	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	453	COG1960	NULL
3712	226958414	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	269	cd01156	NULL
3712	226958414	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	28	pfam08028	NULL
3712	226958414	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	277	cd01152	NULL
3712	226958414	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	266	cd01160	NULL
3712	226958414	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	268	cd01158	NULL
3712	226958414	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	41	pfam00441	NULL
3712	226958414	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	310	cd01153	NULL
3712	226958414	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	271	cd01162	NULL
3712	226958414	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	266	cd01157	NULL
3712	226958412	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	256	cd01151	NULL
3712	226958412	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	10	pfam00441	NULL
3712	226958412	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	418	COG1960	NULL
3712	226958412	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	318	cd00567	NULL
3712	226958412	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	287_G	cd01155	NULL
3712	226958412	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	237	cd01158	NULL
3712	226958412	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	249	cd01152	NULL
3712	226958412	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	236	cd01160	NULL
3712	226958412	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	308	cd01154	NULL
3712	226958412	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	274	cd01161	NULL
3712	226958412	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	241	cd01162	NULL
3712	226958412	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	236	cd01157	NULL
3712	226958412	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	239	cd01156	NULL
3712	226958412	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	235	cd01163	NULL
3712	226958412	Disease	p.Ala282Val	607036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607036	ISOVALERIC ACIDEMIA	OMIM	280	cd01153	NULL
140803	293597574	Disease	p.Ser141Leu	607009.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607009	HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA	OMIM	No Domain	N/A	NULL
140803	293597572	Disease	p.Ser141Leu	607009.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607009	HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA	OMIM	No Domain	N/A	NULL
140803	56404951	Disease	p.Ser141Leu	607009.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607009	HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA	OMIM	No Domain	N/A	18921093,NP_060132
34	187960098	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	35	pfam00441	NULL
34	187960098	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	332	cd01154	NULL
34	187960098	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	280	cd01151	NULL
34	187960098	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	19	pfam08028	NULL
34	187960098	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	298	cd01161	NULL
34	187960098	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	447	COG1960	NULL
34	187960098	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	273	cd01152	NULL
34	187960098	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	260	cd01160	NULL
34	187960098	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	342	cd00567	NULL
34	187960098	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	261	cd01158	NULL
34	187960098	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	318	cd01155	NULL
34	187960098	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	265	cd01162	NULL
34	187960098	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	260	cd01157	NULL
34	187960098	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	263	cd01156	NULL
34	187960098	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	304	cd01153	NULL
34	187960098	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	264	cd01163	NULL
34	187960098	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	261	cd01159	NULL
34	113017	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	265	cd01159	4557231,NP_000007
34	113017	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	268	cd01163	4557231,NP_000007
34	113017	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	308	cd01153	4557231,NP_000007
34	113017	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	267	cd01156	4557231,NP_000007
34	113017	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	23	pfam08028	4557231,NP_000007
34	113017	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	39	pfam00441	4557231,NP_000007
34	113017	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	269	cd01162	4557231,NP_000007
34	113017	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	264	cd01157	4557231,NP_000007
34	113017	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	302	cd01161	4557231,NP_000007
34	113017	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	336	cd01154	4557231,NP_000007
34	113017	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	451	COG1960	4557231,NP_000007
34	113017	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	322	cd01155	4557231,NP_000007
34	113017	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	346	cd00567	4557231,NP_000007
34	113017	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	264	cd01160	4557231,NP_000007
34	113017	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	265	cd01158	4557231,NP_000007
34	113017	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	277	cd01152	4557231,NP_000007
34	113017	Disease	p.Lys304Glu	607008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	284	cd01151	4557231,NP_000007
34	187960098	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	285	cd01154	NULL
34	187960098	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	243	cd01151	NULL
34	187960098	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	261	cd01161	NULL
34	187960098	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	396	COG1960	NULL
34	187960098	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	236	cd01152	NULL
34	187960098	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	223	cd01160	NULL
34	187960098	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	292	cd00567	NULL
34	187960098	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	224	cd01158	NULL
34	187960098	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	281	cd01155	NULL
34	187960098	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	225	cd01162	NULL
34	187960098	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	223	cd01157	NULL
34	187960098	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	226	cd01156	NULL
34	187960098	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	265	cd01153	NULL
34	187960098	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	218	cd01163	NULL
34	187960098	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	210	cd01159	NULL
34	113017	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	220	cd01159	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	222	cd01163	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	270	cd01153	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	230	cd01156	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	232	cd01162	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	227	cd01157	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	265	cd01161	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	299	cd01154	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	409	COG1960	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	285	cd01155	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	296	cd00567	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	227	cd01160	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	228	cd01158	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	240	cd01152	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	607008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	247	cd01151	4557231,NP_000007
34	187960098	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	122	pfam00441	NULL
34	187960098	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	415	cd01154	NULL
34	187960098	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	352	cd01151	NULL
34	187960098	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	114	pfam08028	NULL
34	187960098	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	388	cd01161	NULL
34	187960098	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	572	COG1960	NULL
34	187960098	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	351	cd01152	NULL
34	187960098	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	331	cd01160	NULL
34	187960098	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	433	cd00567	NULL
34	187960098	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	334	cd01158	NULL
34	187960098	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	393	cd01155	NULL
34	187960098	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	337	cd01162	NULL
34	187960098	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	331	cd01157	NULL
34	187960098	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	339	cd01156	NULL
34	187960098	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	407	cd01153	NULL
34	187960098	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	370	cd01163	NULL
34	187960098	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	351	cd01159	NULL
34	113017	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	355	cd01159	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	374	cd01163	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	411	cd01153	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	343	cd01156	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	118	pfam08028	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	126	pfam00441	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	341	cd01162	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	335	cd01157	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	392	cd01161	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	419	cd01154	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	576	COG1960	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	397	cd01155	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	437	cd00567	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	335	cd01160	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	338	cd01158	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	355	cd01152	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	607008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	356	cd01151	4557231,NP_000007
34	187960098	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	266	cd01154	NULL
34	187960098	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	220	cd01151	NULL
34	187960098	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	238	cd01161	NULL
34	187960098	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	358	COG1960	NULL
34	187960098	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	215	cd01152	NULL
34	187960098	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	200	cd01160	NULL
34	187960098	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	269	cd00567	NULL
34	187960098	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	201	cd01158	NULL
34	187960098	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	244	cd01155	NULL
34	187960098	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	202	cd01162	NULL
34	187960098	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	200	cd01157	NULL
34	187960098	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	203	cd01156	NULL
34	187960098	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	230	cd01153	NULL
34	187960098	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	195	cd01163	NULL
34	187960098	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	187	cd01159	NULL
34	113017	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	191	cd01159	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	199	cd01163	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	234	cd01153	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	207	cd01156	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	206	cd01162	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	204	cd01157	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	242	cd01161	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	270	cd01154	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	362	COG1960	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	247_G	cd01155	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	273	cd00567	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	204	cd01160	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	205	cd01158	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	217_G	cd01152	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	607008.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	224	cd01151	4557231,NP_000007
34	187960098	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	149	cd01154	NULL
34	187960098	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	120	cd01151	NULL
34	187960098	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	139	cd01161	NULL
34	187960098	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	216	COG1960	NULL
34	187960098	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	119	cd01152	NULL
34	187960098	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	106	cd01160	NULL
34	187960098	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	128	cd00567	NULL
34	187960098	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	107	cd01158	NULL
34	187960098	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	145	cd01155	NULL
34	187960098	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	246	pfam02771	NULL
34	187960098	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	105	cd01162	NULL
34	187960098	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	105	cd01157	NULL
34	187960098	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	109	cd01156	NULL
34	187960098	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	112	cd01153	NULL
34	187960098	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	97	cd01163	NULL
34	187960098	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	85	cd01159	NULL
34	113017	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	89	cd01159	4557231,NP_000007
34	113017	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	101	cd01163	4557231,NP_000007
34	113017	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	116	cd01153	4557231,NP_000007
34	113017	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	113	cd01156	4557231,NP_000007
34	113017	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	109	cd01162	4557231,NP_000007
34	113017	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	109	cd01157	4557231,NP_000007
34	113017	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	143	cd01161	4557231,NP_000007
34	113017	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	250	pfam02771	4557231,NP_000007
34	113017	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	153	cd01154	4557231,NP_000007
34	113017	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	220	COG1960	4557231,NP_000007
34	113017	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	146_G	cd01155	4557231,NP_000007
34	113017	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	132	cd00567	4557231,NP_000007
34	113017	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	110	cd01160	4557231,NP_000007
34	113017	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	111	cd01158	4557231,NP_000007
34	113017	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	123	cd01152	4557231,NP_000007
34	113017	Disease	p.Met149Ile	607008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	124	cd01151	4557231,NP_000007
34	187960098	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	11	pfam02770	NULL
34	187960098	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	182	cd01154	NULL
34	187960098	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	141	cd01151	NULL
34	187960098	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	160	cd01161	NULL
34	187960098	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	244	COG1960	NULL
34	187960098	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	140	cd01152	NULL
34	187960098	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	127	cd01160	NULL
34	187960098	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	156	cd00567	NULL
34	187960098	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	128	cd01158	NULL
34	187960098	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	167	cd01155	NULL
34	187960098	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	126	cd01162	NULL
34	187960098	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	126	cd01157	NULL
34	187960098	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	130	cd01156	NULL
34	187960098	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	133	cd01153	NULL
34	187960098	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	119	cd01163	NULL
34	187960098	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	105	cd01159	NULL
34	113017	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	109	cd01159	4557231,NP_000007
34	113017	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	123	cd01163	4557231,NP_000007
34	113017	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	137	cd01153	4557231,NP_000007
34	113017	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	134	cd01156	4557231,NP_000007
34	113017	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	130	cd01162	4557231,NP_000007
34	113017	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	130	cd01157	4557231,NP_000007
34	113017	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	164	cd01161	4557231,NP_000007
34	113017	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	186	cd01154	4557231,NP_000007
34	113017	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	248	COG1960	4557231,NP_000007
34	113017	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	171	cd01155	4557231,NP_000007
34	113017	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	165	cd00567	4557231,NP_000007
34	113017	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	131	cd01160	4557231,NP_000007
34	113017	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	132	cd01158	4557231,NP_000007
34	113017	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	144	cd01152	4557231,NP_000007
34	113017	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	23	pfam02770	4557231,NP_000007
34	113017	Disease	p.Gly170Arg	607008.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	145	cd01151	4557231,NP_000007
34	187960098	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	8	pfam02770	NULL
34	187960098	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	180	cd01154	NULL
34	187960098	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	139	cd01151	NULL
34	187960098	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	158	cd01161	NULL
34	187960098	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	239	COG1960	NULL
34	187960098	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	138	cd01152	NULL
34	187960098	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	125	cd01160	NULL
34	187960098	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	154	cd00567	NULL
34	187960098	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	126	cd01158	NULL
34	187960098	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	164	cd01155	NULL
34	187960098	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	124	cd01162	NULL
34	187960098	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	124	cd01157	NULL
34	187960098	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	128	cd01156	NULL
34	187960098	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	131	cd01153	NULL
34	187960098	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	115	cd01163	NULL
34	187960098	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	99	cd01159	NULL
34	113017	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	107	cd01159	4557231,NP_000007
34	113017	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	121	cd01163	4557231,NP_000007
34	113017	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	135	cd01153	4557231,NP_000007
34	113017	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	132	cd01156	4557231,NP_000007
34	113017	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	128	cd01162	4557231,NP_000007
34	113017	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	128	cd01157	4557231,NP_000007
34	113017	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	162	cd01161	4557231,NP_000007
34	113017	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	184	cd01154	4557231,NP_000007
34	113017	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	246	COG1960	4557231,NP_000007
34	113017	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	169	cd01155	4557231,NP_000007
34	113017	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	163	cd00567	4557231,NP_000007
34	113017	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	129	cd01160	4557231,NP_000007
34	113017	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	130	cd01158	4557231,NP_000007
34	113017	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	142	cd01152	4557231,NP_000007
34	113017	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	13	pfam02770	4557231,NP_000007
34	113017	Disease	p.Thr168Ala	607008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	143	cd01151	4557231,NP_000007
34	187960098	Disease	p.Tyr42His	607008.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	10	cd01151	NULL
34	187960098	Disease	p.Tyr42His	607008.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	29	cd01161	NULL
34	187960098	Disease	p.Tyr42His	607008.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	2	COG1960	NULL
34	113017	Disease	p.Tyr42His	607008.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	3	cd01156	4557231,NP_000007
34	113017	Disease	p.Tyr42His	607008.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	2	cd01162	4557231,NP_000007
34	113017	Disease	p.Tyr42His	607008.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	2	cd01157	4557231,NP_000007
34	113017	Disease	p.Tyr42His	607008.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	33	cd01161	4557231,NP_000007
34	113017	Disease	p.Tyr42His	607008.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	6	COG1960	4557231,NP_000007
34	113017	Disease	p.Tyr42His	607008.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	14	cd01151	4557231,NP_000007
34	187960098	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	237	cd01154	NULL
34	187960098	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	191	cd01151	NULL
34	187960098	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	213	cd01161	NULL
34	187960098	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	319	COG1960	NULL
34	187960098	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	191	cd01152	NULL
34	187960098	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	177	cd01160	NULL
34	187960098	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	232	cd00567	NULL
34	187960098	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	176	cd01158	NULL
34	187960098	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	220	cd01155	NULL
34	187960098	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	178	cd01162	NULL
34	187960098	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	176	cd01157	NULL
34	187960098	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	179	cd01156	NULL
34	187960098	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	195	cd01153	NULL
34	187960098	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	171	cd01163	NULL
34	187960098	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	164	cd01159	NULL
34	113017	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	168	cd01159	4557231,NP_000007
34	113017	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	175	cd01163	4557231,NP_000007
34	113017	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	199	cd01153	4557231,NP_000007
34	113017	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	183	cd01156	4557231,NP_000007
34	113017	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	182	cd01162	4557231,NP_000007
34	113017	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	180	cd01157	4557231,NP_000007
34	113017	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	218	cd01161	4557231,NP_000007
34	113017	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	241	cd01154	4557231,NP_000007
34	113017	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	323	COG1960	4557231,NP_000007
34	113017	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	224	cd01155	4557231,NP_000007
34	113017	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	236	cd00567	4557231,NP_000007
34	113017	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	180	cd01160	4557231,NP_000007
34	113017	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	180	cd01158	4557231,NP_000007
34	113017	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	195	cd01152	4557231,NP_000007
34	113017	Disease	p.Ser220Leu	607008.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	195	cd01151	4557231,NP_000007
34	187960098	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	278	cd01154	NULL
34	187960098	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	232	cd01151	NULL
34	187960098	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	250	cd01161	NULL
34	187960098	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	370	COG1960	NULL
34	187960098	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	225	cd01152	NULL
34	187960098	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	212	cd01160	NULL
34	187960098	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	281	cd00567	NULL
34	187960098	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	213	cd01158	NULL
34	187960098	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	259	cd01155	NULL
34	187960098	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	214	cd01162	NULL
34	187960098	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	212	cd01157	NULL
34	187960098	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	215	cd01156	NULL
34	187960098	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	242	cd01153	NULL
34	187960098	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	207	cd01163	NULL
34	187960098	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	199	cd01159	NULL
34	113017	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	203	cd01159	4557231,NP_000007
34	113017	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	211	cd01163	4557231,NP_000007
34	113017	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	246	cd01153	4557231,NP_000007
34	113017	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	219	cd01156	4557231,NP_000007
34	113017	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	218	cd01162	4557231,NP_000007
34	113017	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	216	cd01157	4557231,NP_000007
34	113017	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	254	cd01161	4557231,NP_000007
34	113017	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	281_G	cd01154	4557231,NP_000007
34	113017	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	389	COG1960	4557231,NP_000007
34	113017	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	263	cd01155	4557231,NP_000007
34	113017	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	285	cd00567	4557231,NP_000007
34	113017	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	216	cd01160	4557231,NP_000007
34	113017	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	217	cd01158	4557231,NP_000007
34	113017	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	229	cd01152	4557231,NP_000007
34	113017	Disease	p.Arg256Thr	607008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	236	cd01151	4557231,NP_000007
34	187960098	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	99	cd01154	NULL
34	187960098	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	66	cd01151	NULL
34	187960098	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	85	cd01161	NULL
34	187960098	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	127	COG1960	NULL
34	187960098	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	63	cd01152	NULL
34	187960098	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	50	cd01160	NULL
34	187960098	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	66	cd00567	NULL
34	187960098	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	50	cd01158	NULL
34	187960098	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	64	cd01155	NULL
34	187960098	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	124	pfam02771	NULL
34	187960098	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	52	cd01162	NULL
34	187960098	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	52	cd01157	NULL
34	187960098	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	55	cd01156	NULL
34	187960098	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	58	cd01153	NULL
34	187960098	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	42	cd01163	NULL
34	187960098	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	42	cd01159	NULL
34	113017	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	46	cd01159	4557231,NP_000007
34	113017	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	46	cd01163	4557231,NP_000007
34	113017	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	62	cd01153	4557231,NP_000007
34	113017	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	59	cd01156	4557231,NP_000007
34	113017	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	56	cd01162	4557231,NP_000007
34	113017	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	56	cd01157	4557231,NP_000007
34	113017	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	89	cd01161	4557231,NP_000007
34	113017	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	137	pfam02771	4557231,NP_000007
34	113017	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	103	cd01154	4557231,NP_000007
34	113017	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	131	COG1960	4557231,NP_000007
34	113017	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	68	cd01155	4557231,NP_000007
34	113017	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	70	cd00567	4557231,NP_000007
34	113017	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	54	cd01160	4557231,NP_000007
34	113017	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	54	cd01158	4557231,NP_000007
34	113017	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	67	cd01152	4557231,NP_000007
34	113017	Disease	p.Thr96Ile	607008.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607008	MCAD DEFICIENCY	OMIM	70	cd01151	4557231,NP_000007
60675	18202953	Disease	p.Gly32Arg	607002.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607002	KALLMANN SYNDROME 4	OMIM	37	pfam06607	187167261,NP_001119600
60675	17530787	Disease	p.Gly32Arg	607002.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607002	KALLMANN SYNDROME 4	OMIM	37	pfam06607	NULL
60675	18202953	Disease	p.Arg73Cys	607002.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607002	KALLMANN SYNDROME 4	OMIM	78	pfam06607	187167261,NP_001119600
60675	17530787	Disease	p.Arg73Cys	607002.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607002	KALLMANN SYNDROME 4	OMIM	78	pfam06607	NULL
79813	224465235	Disease	p.Cys1042Tyr	607001.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607001	KLEEFSTRA SYNDROME	OMIM	No Domain	N/A	NULL
79813	224465233	Disease	p.Cys1042Tyr	607001.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607001	KLEEFSTRA SYNDROME	OMIM	61	pfam05033	NULL
79813	224465233	Disease	p.Cys1042Tyr	607001.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607001	KLEEFSTRA SYNDROME	OMIM	42	smart00468	NULL
2592	3183522	Disease	p.Met142Lys	606999.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	358	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Met142Lys	606999.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	60	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Met142Lys	606999.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	147	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Met142Lys	606999.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	191	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg333Trp	606999.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	184	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Arg333Trp	606999.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	408	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg333Trp	606999.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	391	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Val44Met	606999.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	94	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Val44Met	606999.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	15	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Val44Met	606999.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	16	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Leu62Met	606999.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALT POLYMORPHISM	OMIM	176	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Leu62Met	606999.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALT POLYMORPHISM	OMIM	33	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Leu62Met	606999.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALT POLYMORPHISM	OMIM	34	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Asn314Asp	606999.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALT POLYMORPHISM (DUARTE, D2)	OMIM	165	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Asn314Asp	606999.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALT POLYMORPHISM (DUARTE, D2)	OMIM	378	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Asn314Asp	606999.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALT POLYMORPHISM (DUARTE, D2)	OMIM	370	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Gln188Arg	606999.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	585	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Gln188Arg	606999.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	111	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Gln188Arg	606999.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	219	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Gln188Arg	606999.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	245	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Leu74Pro	606999.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	213	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Leu74Pro	606999.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	49	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Leu74Pro	606999.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	46	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Phe171Ser	606999.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	533	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Phe171Ser	606999.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	94	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Phe171Ser	606999.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	202	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Phe171Ser	606999.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	228	COG1085	22165416,NP_000146
2592	3183522	Disease	p.His319Gln	606999.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	170	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.His319Gln	606999.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	383	cd00608	22165416,NP_000146
2592	3183522	Disease	p.His319Gln	606999.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	375	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Ser135Leu	606999.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	337	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Ser135Leu	606999.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	50	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Ser135Leu	606999.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	139	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Ser135Leu	606999.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	148	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Pro183Thr	606999.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	551	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Pro183Thr	606999.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	106	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Pro183Thr	606999.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	214	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Pro183Thr	606999.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	240	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Leu218Leu	606999.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALT POLYMORPHISM (LOS ANGELES, D1)	OMIM	33	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Leu218Leu	606999.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALT POLYMORPHISM (LOS ANGELES, D1)	OMIM	253	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Leu218Leu	606999.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALT POLYMORPHISM (LOS ANGELES, D1)	OMIM	275	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Lys285Asn	606999.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	127	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Lys285Asn	606999.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	336	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Lys285Asn	606999.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	342	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Glu203Lys	606999.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	10	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Glu203Lys	606999.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	234	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Glu203Lys	606999.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	260	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg333Gly	606999.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	184	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Arg333Gly	606999.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	408	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg333Gly	606999.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	391	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Phe194Leu	606999.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	591	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Phe194Leu	606999.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	225	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Phe194Leu	606999.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606999	GALACTOSEMIA	OMIM	251	COG1085	22165416,NP_000146
4353	129825	Disease	p.Arg569Trp	606989.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606989	MYELOPEROXIDASE DEFICIENCY	OMIM	1286	pfam03098	4557759,NP_000241
4353	129825	Disease	p.Tyr173Cys	606989.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606989	MYELOPEROXIDASE DEFICIENCY	OMIM	No Domain	N/A	4557759,NP_000241
4353	129825	Disease	p.Met251Thr	606989.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606989	MYELOPEROXIDASE DEFICIENCY	OMIM	152	pfam03098	4557759,NP_000241
4353	129825	Disease	p.Ala332Val	606989.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606989	MYELOPEROXIDASE DEFICIENCY	OMIM	382	pfam03098	4557759,NP_000241
4353	129825	Disease	p.Leu572Trp	606989.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606989	MYELOPEROXIDASE DEFICIENCY	OMIM	1307	pfam03098	4557759,NP_000241
4353	129825	Disease	p.Gly501Ser	606989.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606989	MYELOPEROXIDASE DEFICIENCY	OMIM	1016	pfam03098	4557759,NP_000241
4353	129825	Disease	p.Arg499Cys	606989.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606989	MYELOPEROXIDASE DEFICIENCY	OMIM	1014	pfam03098	4557759,NP_000241
56997	27923741	Disease	p.Glu551Lys	606980.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606980	COENZYME Q10 DEFICIENCY	OMIM	478	COG0661	34147522,NP_064632
56997	27923741	Disease	p.Arg213Trp	606980.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606980	COENZYME Q10 DEFICIENCY	OMIM	17	COG0661	34147522,NP_064632
56997	27923741	Disease	p.Gly272Val	606980.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606980	COENZYME Q10 DEFICIENCY	OMIM	77	COG0661	34147522,NP_064632
56997	27923741	Disease	p.Gly272Asp	606980.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606980	COENZYME Q10 DEFICIENCY	OMIM	77	COG0661	34147522,NP_064632
56997	27923741	Disease	p.Tyr514Cys	606980.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606980	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9	OMIM	439	COG0661	34147522,NP_064632
56997	27923741	Disease	p.Gly549Ser	606980.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606980	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9	OMIM	475	COG0661	34147522,NP_064632
25839	304376294	Disease	p.Arg729Trp	606976.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606976	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj	OMIM	No Domain	N/A	NULL
25839	118498354	Disease	p.Arg729Trp	606976.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606976	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj	OMIM	No Domain	N/A	NULL
3931	125993	Disease	p.Trp147Arg	606967.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606967	LCAT DEFICIENCY	OMIM	87	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Met293Ile	606967.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606967	LCAT DEFICIENCY	OMIM	274	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Asn228Lys	606967.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606967	LCAT DEFICIENCY	OMIM	182	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Ile123Thr	606967.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606967	FISH-EYE DISEASE	OMIM	53	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Pro10Leu	606967.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606967	FISH-EYE DISEASE	OMIM	No Domain	N/A	4557892,NP_000220
3931	125993	Disease	p.Thr123Ile	606967.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606967	FISH-EYE DISEASE	OMIM	53	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Thr347Met	606967.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606967	FISH-EYE DISEASE	OMIM	376	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Met252Lys	606967.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606967	LCAT DEFICIENCY	OMIM	212	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Leu209Pro	606967.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606967	LCAT DEFICIENCY	OMIM	153	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Ala93Thr	606967.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606967	LCAT DEFICIENCY	OMIM	21	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Arg135Trp	606967.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606967	LCAT DEFICIENCY	OMIM	71	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Thr321Met	606967.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606967	LCAT DEFICIENCY	OMIM	349	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Asn131Asp	606967.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606967	FISH-EYE DISEASE	OMIM	67	pfam02450	4557892,NP_000220
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	195	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	186	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	211_G	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	189	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	188	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	331	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	306	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	265	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	182	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	195	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	186	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	211_G	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	189	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	188	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	331	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	306	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	265	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	182	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	195	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	186	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	211_G	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	189	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	188	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	331	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	306	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	265	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	606953.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	182	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	35	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	21_G	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	29_G	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	34	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	35	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	30_G	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	59	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	28	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	40	pfam08659	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	39	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	31_G	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	35	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	21_G	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	29_G	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	34	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	35	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	30_G	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	59	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	28	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	40	pfam08659	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	39	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	31_G	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	35	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	21_G	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	29_G	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	34	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	35	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	30_G	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	59	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	28	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	40	pfam08659	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	39	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	606953.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	31_G	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	86	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	84	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	89	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	88	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	91	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	121	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	158	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	129	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	148	pfam08659	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	108	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	82	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	86	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	84	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	89	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	88	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	91	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	121	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	158	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	129	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	148	pfam08659	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	108	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	82	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	86	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	84	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	89	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	88	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	91	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	121	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	158	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	129	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	148	pfam08659	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	108	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	606953.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	82	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	103	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	98	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	102	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	101	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	106	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	150	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	174	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	143	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	161	pfam08659	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	125	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	96	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	103	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	98	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	102	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	101	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	106	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	150	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	174	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	143	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	161	pfam08659	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	125	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	96	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	103	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	98	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	102	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	101	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	106	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	150	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	174	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	143	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	161	pfam08659	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	125	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	606953.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	96	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	250	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	244	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	268_G	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	269	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	291	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	443	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	384	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	243	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	250	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	244	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	268_G	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	269	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	291	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	443	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	384	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	243	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	250	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	244	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	268_G	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	269	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	291	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	443	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	384	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	606953.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	243	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	606953.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	315	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	606953.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	385	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	606953.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	330	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	606953.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	381	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	606953.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	552	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	606953.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	317	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	606953.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	315	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	606953.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	385	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	606953.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	330	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	606953.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	381	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	606953.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	552	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	606953.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	317	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	606953.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	315	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	606953.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	385	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	606953.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	330	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	606953.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	381	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	606953.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	552	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	606953.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	317	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	606953.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	328	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	606953.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	391	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	606953.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	336	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	606953.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	387	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	606953.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	558	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	606953.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	323	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	606953.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	328	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	606953.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	391	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	606953.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	336	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	606953.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	387	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	606953.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	558	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	606953.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	323	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	606953.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	328	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	606953.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	391	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	606953.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	336	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	606953.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	387	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	606953.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	558	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	606953.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY	OMIM	323	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	90	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	88	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	93	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	92	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	97	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	127	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	162	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	133	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	150	pfam08659	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	115	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	86	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	90	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	88	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	93	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	92	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	97	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	127	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	162	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	133	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	150	pfam08659	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	115	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	86	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	90	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	88	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	93	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	92	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	97	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	127	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	162	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	133	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	150	pfam08659	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	115	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	606953.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606953	GALACTOSE EPIMERASE DEFICIENCY, SEVERE	OMIM	86	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
3949	307775416	Disease	p.Trp66Gly	606945.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH FRENCH CANADIAN 4	OMIM	No Domain	N/A	NULL
3949	126073	Disease	p.Trp66Gly	606945.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH FRENCH CANADIAN 4	OMIM	No Domain	N/A	4504975,NP_000518
3949	307775420	Disease	p.Trp66Gly	606945.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH FRENCH CANADIAN 4	OMIM	No Domain	N/A	NULL
3949	307775422	Disease	p.Trp66Gly	606945.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH FRENCH CANADIAN 4	OMIM	No Domain	N/A	NULL
3949	307775412	Disease	p.Trp66Gly	606945.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH FRENCH CANADIAN 4	OMIM	No Domain	N/A	NULL
3949	307775414	Disease	p.Trp66Gly	606945.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH FRENCH CANADIAN 4	OMIM	No Domain	N/A	NULL
3949	307775416	Disease	p.Ser156Leu	606945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PUERTO RICO	OMIM	31	cd00054	NULL
3949	307775416	Disease	p.Ser156Leu	606945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PUERTO RICO	OMIM	16	smart00181	NULL
3949	307775416	Disease	p.Ser156Leu	606945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PUERTO RICO	OMIM	18	cd00053	NULL
3949	307775416	Disease	p.Ser156Leu	606945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PUERTO RICO	OMIM	24	smart00179	NULL
3949	307775416	Disease	p.Ser156Leu	606945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PUERTO RICO	OMIM	9	pfam00008	NULL
3949	126073	Disease	p.Ser156Leu	606945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PUERTO RICO	OMIM	15	smart00192	4504975,NP_000518
3949	126073	Disease	p.Ser156Leu	606945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PUERTO RICO	OMIM	25	cd00112	4504975,NP_000518
3949	126073	Disease	p.Ser156Leu	606945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PUERTO RICO	OMIM	16	pfam00057	4504975,NP_000518
3949	307775420	Disease	p.Ser156Leu	606945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PUERTO RICO	OMIM	2	cd00112	NULL
3949	307775420	Disease	p.Ser156Leu	606945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PUERTO RICO	OMIM	3	smart00192	NULL
3949	307775420	Disease	p.Ser156Leu	606945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PUERTO RICO	OMIM	4	pfam00057	NULL
3949	307775422	Disease	p.Ser156Leu	606945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PUERTO RICO	OMIM	23	cd00112	NULL
3949	307775422	Disease	p.Ser156Leu	606945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PUERTO RICO	OMIM	14	pfam00057	NULL
3949	307775422	Disease	p.Ser156Leu	606945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PUERTO RICO	OMIM	12	smart00192	NULL
3949	307775412	Disease	p.Ser156Leu	606945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PUERTO RICO	OMIM	15	smart00192	NULL
3949	307775412	Disease	p.Ser156Leu	606945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PUERTO RICO	OMIM	25	cd00112	NULL
3949	307775412	Disease	p.Ser156Leu	606945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PUERTO RICO	OMIM	16	pfam00057	NULL
3949	307775414	Disease	p.Ser156Leu	606945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PUERTO RICO	OMIM	2	smart00192	NULL
3949	307775414	Disease	p.Ser156Leu	606945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PUERTO RICO	OMIM	3	pfam00057	NULL
3949	307775416	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	47	smart00181	NULL
3949	307775416	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	48	cd00053	NULL
3949	307775416	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	50	cd00054	NULL
3949	307775416	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	45	smart00179	NULL
3949	307775416	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	29	pfam07645	NULL
3949	126073	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	26	cd00112	4504975,NP_000518
3949	126073	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	25	smart00192	4504975,NP_000518
3949	126073	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	17	pfam00057	4504975,NP_000518
3949	307775420	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	34	cd00054	NULL
3949	307775420	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	27	smart00179	NULL
3949	307775420	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	12	pfam00008	NULL
3949	307775420	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	19	smart00181	NULL
3949	307775420	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	26	cd00053	NULL
3949	307775422	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	45	smart00181	NULL
3949	307775422	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	32	cd00053	NULL
3949	307775422	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	40	cd00054	NULL
3949	307775422	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	22	pfam00008	NULL
3949	307775422	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	43	smart00179	NULL
3949	307775412	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	26	cd00112	NULL
3949	307775412	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	25	smart00192	NULL
3949	307775412	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	17	pfam00057	NULL
3949	307775414	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	21	pfam00057	NULL
3949	307775414	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	27	smart00192	NULL
3949	307775414	Disease	p.Asp206Glu	606945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 1||FH MAINE	OMIM	39	cd00112	NULL
3949	307775416	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	48	smart00181	NULL
3949	307775416	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	49	cd00053	NULL
3949	307775416	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	51	cd00054	NULL
3949	307775416	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	46	smart00179	NULL
3949	307775416	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	30	pfam07645	NULL
3949	126073	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	38	cd00112	4504975,NP_000518
3949	126073	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	26	smart00192	4504975,NP_000518
3949	126073	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	18	pfam00057	4504975,NP_000518
3949	307775420	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	35	cd00054	NULL
3949	307775420	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	33	smart00179	NULL
3949	307775420	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	17	pfam00008	NULL
3949	307775420	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	26	smart00181	NULL
3949	307775420	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	27	cd00053	NULL
3949	307775422	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	46	smart00181	NULL
3949	307775422	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	47	cd00053	NULL
3949	307775422	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	49	cd00054	NULL
3949	307775422	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	31	pfam00008	NULL
3949	307775422	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	44	smart00179	NULL
3949	307775412	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	38	cd00112	NULL
3949	307775412	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	26	smart00192	NULL
3949	307775412	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	18	pfam00057	NULL
3949	307775414	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	27	pfam00057	NULL
3949	307775414	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	30	smart00192	NULL
3949	307775414	Disease	p.Glu207Lys	606945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH MEXICO||FH FRENCH CANADIAN 3	OMIM	40	cd00112	NULL
3949	307775416	Disease	p.Asp283Asn	606945.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH DENVER 2	OMIM	13	pfam00058	NULL
3949	126073	Disease	p.Asp283Asn	606945.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH DENVER 2	OMIM	14	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Asp283Asn	606945.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH DENVER 2	OMIM	23	cd00112	4504975,NP_000518
3949	126073	Disease	p.Asp283Asn	606945.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH DENVER 2	OMIM	12	smart00192	4504975,NP_000518
3949	307775420	Disease	p.Asp283Asn	606945.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH DENVER 2	OMIM	No Domain	N/A	NULL
3949	307775422	Disease	p.Asp283Asn	606945.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH DENVER 2	OMIM	No Domain	N/A	NULL
3949	307775412	Disease	p.Asp283Asn	606945.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH DENVER 2	OMIM	14	pfam00057	NULL
3949	307775412	Disease	p.Asp283Asn	606945.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH DENVER 2	OMIM	23	cd00112	NULL
3949	307775412	Disease	p.Asp283Asn	606945.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH DENVER 2	OMIM	12	smart00192	NULL
3949	307775414	Disease	p.Asp283Asn	606945.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH DENVER 2	OMIM	16	smart00181	NULL
3949	307775414	Disease	p.Asp283Asn	606945.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH DENVER 2	OMIM	18	cd00053	NULL
3949	307775414	Disease	p.Asp283Asn	606945.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH DENVER 2	OMIM	24	smart00179	NULL
3949	307775414	Disease	p.Asp283Asn	606945.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH DENVER 2	OMIM	31	cd00054	NULL
3949	307775414	Disease	p.Asp283Asn	606945.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH DENVER 2	OMIM	9	pfam00008	NULL
3949	307775416	Disease	p.Val408Met	606945.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 2	OMIM	28	smart00135	NULL
3949	307775416	Disease	p.Val408Met	606945.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 2	OMIM	4	pfam00058	NULL
3949	126073	Disease	p.Val408Met	606945.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 2	OMIM	No Domain	N/A	4504975,NP_000518
3949	307775420	Disease	p.Val408Met	606945.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 2	OMIM	23	smart00135	NULL
3949	307775422	Disease	p.Val408Met	606945.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 2	OMIM	7	pfam00058	NULL
3949	307775422	Disease	p.Val408Met	606945.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 2	OMIM	31	smart00135	NULL
3949	307775412	Disease	p.Val408Met	606945.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 2	OMIM	No Domain	N/A	NULL
3949	307775414	Disease	p.Val408Met	606945.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 2	OMIM	11	pfam00058	NULL
3949	307775416	Disease	p.Ala410Thr	606945.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH ALGERIA	OMIM	30	smart00135	NULL
3949	307775416	Disease	p.Ala410Thr	606945.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH ALGERIA	OMIM	6	pfam00058	NULL
3949	126073	Disease	p.Ala410Thr	606945.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH ALGERIA	OMIM	No Domain	N/A	4504975,NP_000518
3949	307775420	Disease	p.Ala410Thr	606945.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH ALGERIA	OMIM	27	smart00135	NULL
3949	307775420	Disease	p.Ala410Thr	606945.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH ALGERIA	OMIM	3	pfam00058	NULL
3949	307775422	Disease	p.Ala410Thr	606945.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH ALGERIA	OMIM	9	pfam00058	NULL
3949	307775422	Disease	p.Ala410Thr	606945.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH ALGERIA	OMIM	37	smart00135	NULL
3949	307775412	Disease	p.Ala410Thr	606945.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH ALGERIA	OMIM	No Domain	N/A	NULL
3949	307775414	Disease	p.Ala410Thr	606945.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH ALGERIA	OMIM	13	pfam00058	NULL
3949	307775416	Disease	p.Val502Met	606945.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH KUWAIT	OMIM	No Domain	N/A	NULL
3949	126073	Disease	p.Val502Met	606945.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH KUWAIT	OMIM	55	smart00135	4504975,NP_000518
3949	126073	Disease	p.Val502Met	606945.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH KUWAIT	OMIM	22	pfam00058	4504975,NP_000518
3949	307775420	Disease	p.Val502Met	606945.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH KUWAIT	OMIM	32	smart00135	NULL
3949	307775420	Disease	p.Val502Met	606945.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH KUWAIT	OMIM	8	pfam00058	NULL
3949	307775422	Disease	p.Val502Met	606945.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH KUWAIT	OMIM	18	pfam00058	NULL
3949	307775422	Disease	p.Val502Met	606945.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH KUWAIT	OMIM	51	smart00135	NULL
3949	307775412	Disease	p.Val502Met	606945.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH KUWAIT	OMIM	55	smart00135	NULL
3949	307775412	Disease	p.Val502Met	606945.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH KUWAIT	OMIM	22	pfam00058	NULL
3949	307775414	Disease	p.Val502Met	606945.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH KUWAIT	OMIM	19	pfam00058	NULL
3949	307775414	Disease	p.Val502Met	606945.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH KUWAIT	OMIM	52	smart00135	NULL
3949	307775416	Disease	p.Gly525Asp	606945.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH SAINT OMER	OMIM	No Domain	N/A	NULL
3949	126073	Disease	p.Gly525Asp	606945.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH SAINT OMER	OMIM	19	smart00135	4504975,NP_000518
3949	307775420	Disease	p.Gly525Asp	606945.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH SAINT OMER	OMIM	47	pfam00058	NULL
3949	307775422	Disease	p.Gly525Asp	606945.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH SAINT OMER	OMIM	53	pfam00058	NULL
3949	307775412	Disease	p.Gly525Asp	606945.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH SAINT OMER	OMIM	19	smart00135	NULL
3949	307775414	Disease	p.Gly525Asp	606945.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH SAINT OMER	OMIM	16	smart00135	NULL
3949	307775414	Disease	p.Gly525Asp	606945.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH SAINT OMER	OMIM	53	pfam00058	NULL
3949	307775416	Disease	p.Gly528Asp	606945.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GENOA	OMIM	No Domain	N/A	NULL
3949	126073	Disease	p.Gly528Asp	606945.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GENOA	OMIM	22	smart00135	4504975,NP_000518
3949	307775420	Disease	p.Gly528Asp	606945.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GENOA	OMIM	50	pfam00058	NULL
3949	307775422	Disease	p.Gly528Asp	606945.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GENOA	OMIM	No Domain	N/A	NULL
3949	307775412	Disease	p.Gly528Asp	606945.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GENOA	OMIM	22	smart00135	NULL
3949	307775414	Disease	p.Gly528Asp	606945.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GENOA	OMIM	19	smart00135	NULL
3949	307775416	Disease	p.Gly544Val	606945.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH NAPLES	OMIM	No Domain	N/A	NULL
3949	126073	Disease	p.Gly544Val	606945.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH NAPLES	OMIM	20	pfam00058	4504975,NP_000518
3949	126073	Disease	p.Gly544Val	606945.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH NAPLES	OMIM	53	smart00135	4504975,NP_000518
3949	307775420	Disease	p.Gly544Val	606945.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH NAPLES	OMIM	No Domain	N/A	NULL
3949	307775422	Disease	p.Gly544Val	606945.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH NAPLES	OMIM	No Domain	N/A	NULL
3949	307775412	Disease	p.Gly544Val	606945.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH NAPLES	OMIM	20	pfam00058	NULL
3949	307775412	Disease	p.Gly544Val	606945.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH NAPLES	OMIM	53	smart00135	NULL
3949	307775414	Disease	p.Gly544Val	606945.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH NAPLES	OMIM	18	pfam00058	NULL
3949	307775414	Disease	p.Gly544Val	606945.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH NAPLES	OMIM	51	smart00135	NULL
3949	307775416	Disease	p.Cys646Tyr	606945.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH FRENCH CANADIAN 2	OMIM	No Domain	N/A	NULL
3949	126073	Disease	p.Cys646Tyr	606945.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH FRENCH CANADIAN 2	OMIM	47	pfam00058	4504975,NP_000518
3949	307775420	Disease	p.Cys646Tyr	606945.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH FRENCH CANADIAN 2	OMIM	No Domain	N/A	NULL
3949	307775422	Disease	p.Cys646Tyr	606945.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH FRENCH CANADIAN 2	OMIM	No Domain	N/A	NULL
3949	307775412	Disease	p.Cys646Tyr	606945.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH FRENCH CANADIAN 2	OMIM	47	pfam00058	NULL
3949	307775414	Disease	p.Cys646Tyr	606945.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH FRENCH CANADIAN 2	OMIM	No Domain	N/A	NULL
3949	307775416	Disease	p.Pro664Leu	606945.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH ZAMBIA	OMIM	No Domain	N/A	NULL
3949	126073	Disease	p.Pro664Leu	606945.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH ZAMBIA	OMIM	No Domain	N/A	4504975,NP_000518
3949	307775420	Disease	p.Pro664Leu	606945.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH ZAMBIA	OMIM	No Domain	N/A	NULL
3949	307775422	Disease	p.Pro664Leu	606945.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH ZAMBIA	OMIM	No Domain	N/A	NULL
3949	307775412	Disease	p.Pro664Leu	606945.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH ZAMBIA	OMIM	No Domain	N/A	NULL
3949	307775414	Disease	p.Pro664Leu	606945.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH ZAMBIA	OMIM	No Domain	N/A	NULL
3949	307775416	Disease	p.Tyr807Cys	606945.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH BARI||FH SYRIA	OMIM	No Domain	N/A	NULL
3949	126073	Disease	p.Tyr807Cys	606945.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH BARI||FH SYRIA	OMIM	No Domain	N/A	4504975,NP_000518
3949	307775420	Disease	p.Tyr807Cys	606945.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH BARI||FH SYRIA	OMIM	No Domain	N/A	NULL
3949	307775422	Disease	p.Tyr807Cys	606945.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH BARI||FH SYRIA	OMIM	No Domain	N/A	NULL
3949	307775412	Disease	p.Tyr807Cys	606945.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH BARI||FH SYRIA	OMIM	No Domain	N/A	NULL
3949	307775414	Disease	p.Tyr807Cys	606945.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH BARI||FH SYRIA	OMIM	No Domain	N/A	NULL
3949	307775416	Disease	p.Asp154Asn	606945.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 3	OMIM	29	cd00054	NULL
3949	307775416	Disease	p.Asp154Asn	606945.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 3	OMIM	6	smart00181	NULL
3949	307775416	Disease	p.Asp154Asn	606945.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 3	OMIM	16	cd00053	NULL
3949	307775416	Disease	p.Asp154Asn	606945.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 3	OMIM	22	smart00179	NULL
3949	307775416	Disease	p.Asp154Asn	606945.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 3	OMIM	5	pfam00008	NULL
3949	126073	Disease	p.Asp154Asn	606945.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 3	OMIM	12	smart00192	4504975,NP_000518
3949	126073	Disease	p.Asp154Asn	606945.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 3	OMIM	23	cd00112	4504975,NP_000518
3949	126073	Disease	p.Asp154Asn	606945.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 3	OMIM	14	pfam00057	4504975,NP_000518
3949	307775420	Disease	p.Asp154Asn	606945.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 3	OMIM	2	pfam00057	NULL
3949	307775422	Disease	p.Asp154Asn	606945.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 3	OMIM	21	cd00112	NULL
3949	307775422	Disease	p.Asp154Asn	606945.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 3	OMIM	12	pfam00057	NULL
3949	307775422	Disease	p.Asp154Asn	606945.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 3	OMIM	10	smart00192	NULL
3949	307775412	Disease	p.Asp154Asn	606945.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 3	OMIM	12	smart00192	NULL
3949	307775412	Disease	p.Asp154Asn	606945.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 3	OMIM	23	cd00112	NULL
3949	307775412	Disease	p.Asp154Asn	606945.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 3	OMIM	14	pfam00057	NULL
3949	307775414	Disease	p.Asp154Asn	606945.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AFRIKANER 3	OMIM	No Domain	N/A	NULL
3949	307775416	Disease	p.Asp412His	606945.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH OSAKA 3	OMIM	32	smart00135	NULL
3949	307775416	Disease	p.Asp412His	606945.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH OSAKA 3	OMIM	8	pfam00058	NULL
3949	126073	Disease	p.Asp412His	606945.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH OSAKA 3	OMIM	No Domain	N/A	4504975,NP_000518
3949	307775420	Disease	p.Asp412His	606945.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH OSAKA 3	OMIM	29	smart00135	NULL
3949	307775420	Disease	p.Asp412His	606945.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH OSAKA 3	OMIM	5	pfam00058	NULL
3949	307775422	Disease	p.Asp412His	606945.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH OSAKA 3	OMIM	11	pfam00058	NULL
3949	307775422	Disease	p.Asp412His	606945.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH OSAKA 3	OMIM	39	smart00135	NULL
3949	307775412	Disease	p.Asp412His	606945.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH OSAKA 3	OMIM	No Domain	N/A	NULL
3949	307775414	Disease	p.Asp412His	606945.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH OSAKA 3	OMIM	17	pfam00058	NULL
3949	307775416	Disease	p.Gly823Asp	606945.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH TURKU	OMIM	No Domain	N/A	NULL
3949	126073	Disease	p.Gly823Asp	606945.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH TURKU	OMIM	No Domain	N/A	4504975,NP_000518
3949	307775420	Disease	p.Gly823Asp	606945.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH TURKU	OMIM	No Domain	N/A	NULL
3949	307775422	Disease	p.Gly823Asp	606945.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH TURKU	OMIM	No Domain	N/A	NULL
3949	307775412	Disease	p.Gly823Asp	606945.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH TURKU	OMIM	No Domain	N/A	NULL
3949	307775414	Disease	p.Gly823Asp	606945.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH TURKU	OMIM	No Domain	N/A	NULL
3949	307775416	Disease	p.Leu380His	606945.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PORI	OMIM	58	smart00135	NULL
3949	307775416	Disease	p.Leu380His	606945.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PORI	OMIM	24	pfam00058	NULL
3949	126073	Disease	p.Leu380His	606945.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PORI	OMIM	39	pfam07645	4504975,NP_000518
3949	126073	Disease	p.Leu380His	606945.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PORI	OMIM	61	cd00054	4504975,NP_000518
3949	126073	Disease	p.Leu380His	606945.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PORI	OMIM	56	smart00179	4504975,NP_000518
3949	126073	Disease	p.Leu380His	606945.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PORI	OMIM	58	smart00181	4504975,NP_000518
3949	126073	Disease	p.Leu380His	606945.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PORI	OMIM	59	cd00053	4504975,NP_000518
3949	307775420	Disease	p.Leu380His	606945.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PORI	OMIM	21	pfam00058	NULL
3949	307775420	Disease	p.Leu380His	606945.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PORI	OMIM	54	smart00135	NULL
3949	307775422	Disease	p.Leu380His	606945.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PORI	OMIM	28	pfam00058	NULL
3949	307775422	Disease	p.Leu380His	606945.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PORI	OMIM	61	smart00135	NULL
3949	307775412	Disease	p.Leu380His	606945.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PORI	OMIM	39	pfam07645	NULL
3949	307775412	Disease	p.Leu380His	606945.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PORI	OMIM	61	cd00054	NULL
3949	307775412	Disease	p.Leu380His	606945.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PORI	OMIM	56	smart00179	NULL
3949	307775412	Disease	p.Leu380His	606945.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PORI	OMIM	58	smart00181	NULL
3949	307775412	Disease	p.Leu380His	606945.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PORI	OMIM	59	cd00053	NULL
3949	307775414	Disease	p.Leu380His	606945.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH PORI	OMIM	No Domain	N/A	NULL
3949	307775416	Disease	p.Asn543His	606945.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AARHUS	OMIM	No Domain	N/A	NULL
3949	126073	Disease	p.Asn543His	606945.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AARHUS	OMIM	19	pfam00058	4504975,NP_000518
3949	126073	Disease	p.Asn543His	606945.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AARHUS	OMIM	52	smart00135	4504975,NP_000518
3949	307775420	Disease	p.Asn543His	606945.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AARHUS	OMIM	No Domain	N/A	NULL
3949	307775422	Disease	p.Asn543His	606945.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AARHUS	OMIM	No Domain	N/A	NULL
3949	307775412	Disease	p.Asn543His	606945.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AARHUS	OMIM	19	pfam00058	NULL
3949	307775412	Disease	p.Asn543His	606945.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AARHUS	OMIM	52	smart00135	NULL
3949	307775414	Disease	p.Asn543His	606945.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AARHUS	OMIM	17	pfam00058	NULL
3949	307775414	Disease	p.Asn543His	606945.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH AARHUS	OMIM	49	smart00135	NULL
3949	307775416	Disease	p.Cys163Tyr	606945.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GLASCO	OMIM	38	cd00054	NULL
3949	307775416	Disease	p.Cys163Tyr	606945.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GLASCO	OMIM	29	smart00181	NULL
3949	307775416	Disease	p.Cys163Tyr	606945.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GLASCO	OMIM	30	cd00053	NULL
3949	307775416	Disease	p.Cys163Tyr	606945.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GLASCO	OMIM	36	smart00179	NULL
3949	307775416	Disease	p.Cys163Tyr	606945.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GLASCO	OMIM	20	pfam00008	NULL
3949	126073	Disease	p.Cys163Tyr	606945.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GLASCO	OMIM	33	smart00192	4504975,NP_000518
3949	126073	Disease	p.Cys163Tyr	606945.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GLASCO	OMIM	43	cd00112	4504975,NP_000518
3949	126073	Disease	p.Cys163Tyr	606945.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GLASCO	OMIM	30	pfam00057	4504975,NP_000518
3949	307775420	Disease	p.Cys163Tyr	606945.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GLASCO	OMIM	24	cd00112	NULL
3949	307775420	Disease	p.Cys163Tyr	606945.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GLASCO	OMIM	13	smart00192	NULL
3949	307775420	Disease	p.Cys163Tyr	606945.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GLASCO	OMIM	15	pfam00057	NULL
3949	307775422	Disease	p.Cys163Tyr	606945.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GLASCO	OMIM	41	cd00112	NULL
3949	307775422	Disease	p.Cys163Tyr	606945.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GLASCO	OMIM	28	pfam00057	NULL
3949	307775422	Disease	p.Cys163Tyr	606945.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GLASCO	OMIM	31	smart00192	NULL
3949	307775412	Disease	p.Cys163Tyr	606945.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GLASCO	OMIM	33	smart00192	NULL
3949	307775412	Disease	p.Cys163Tyr	606945.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GLASCO	OMIM	43	cd00112	NULL
3949	307775412	Disease	p.Cys163Tyr	606945.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GLASCO	OMIM	30	pfam00057	NULL
3949	307775414	Disease	p.Cys163Tyr	606945.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GLASCO	OMIM	24	cd00112	NULL
3949	307775414	Disease	p.Cys163Tyr	606945.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GLASCO	OMIM	13	smart00192	NULL
3949	307775414	Disease	p.Cys163Tyr	606945.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	FH GLASCO	OMIM	15	pfam00057	NULL
3949	307775416	Disease	p.Cys240Phe	606945.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	No Domain	N/A	NULL
3949	126073	Disease	p.Cys240Phe	606945.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	21	cd00112	4504975,NP_000518
3949	126073	Disease	p.Cys240Phe	606945.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	12	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Cys240Phe	606945.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	10	smart00192	4504975,NP_000518
3949	307775420	Disease	p.Cys240Phe	606945.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	10	pfam07645	NULL
3949	307775420	Disease	p.Cys240Phe	606945.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	22	cd00054	NULL
3949	307775420	Disease	p.Cys240Phe	606945.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	22	smart00179	NULL
3949	307775420	Disease	p.Cys240Phe	606945.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	5	smart00181	NULL
3949	307775420	Disease	p.Cys240Phe	606945.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	16	cd00053	NULL
3949	307775422	Disease	p.Cys240Phe	606945.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	22	pfam07645	NULL
3949	307775422	Disease	p.Cys240Phe	606945.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	35	cd00054	NULL
3949	307775422	Disease	p.Cys240Phe	606945.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	33	smart00179	NULL
3949	307775422	Disease	p.Cys240Phe	606945.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	26	smart00181	NULL
3949	307775422	Disease	p.Cys240Phe	606945.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	27	cd00053	NULL
3949	307775412	Disease	p.Cys240Phe	606945.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	21	cd00112	NULL
3949	307775412	Disease	p.Cys240Phe	606945.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	12	pfam00057	NULL
3949	307775412	Disease	p.Cys240Phe	606945.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	10	smart00192	NULL
3949	307775414	Disease	p.Cys240Phe	606945.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	12	pfam00057	NULL
3949	307775414	Disease	p.Cys240Phe	606945.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	10	smart00192	NULL
3949	307775414	Disease	p.Cys240Phe	606945.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	21	cd00112	NULL
3949	307775416	Disease	p.Cys25Ser	606945.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	No Domain	N/A	NULL
3949	126073	Disease	p.Cys25Ser	606945.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	No Domain	N/A	4504975,NP_000518
3949	307775420	Disease	p.Cys25Ser	606945.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	No Domain	N/A	NULL
3949	307775422	Disease	p.Cys25Ser	606945.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	No Domain	N/A	NULL
3949	307775412	Disease	p.Cys25Ser	606945.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	No Domain	N/A	NULL
3949	307775414	Disease	p.Cys25Ser	606945.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	No Domain	N/A	NULL
3949	307775416	Disease	p.Cys88Ser	606945.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	38	smart00192	NULL
3949	307775416	Disease	p.Cys88Ser	606945.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	47	cd00112	NULL
3949	307775416	Disease	p.Cys88Ser	606945.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	34	pfam00057	NULL
3949	126073	Disease	p.Cys88Ser	606945.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	38	smart00192	4504975,NP_000518
3949	126073	Disease	p.Cys88Ser	606945.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	47	cd00112	4504975,NP_000518
3949	126073	Disease	p.Cys88Ser	606945.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	34	pfam00057	4504975,NP_000518
3949	307775420	Disease	p.Cys88Ser	606945.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	27	pfam00057	NULL
3949	307775420	Disease	p.Cys88Ser	606945.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	30	smart00192	NULL
3949	307775420	Disease	p.Cys88Ser	606945.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	40	cd00112	NULL
3949	307775422	Disease	p.Cys88Ser	606945.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	38	smart00192	NULL
3949	307775422	Disease	p.Cys88Ser	606945.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	47	cd00112	NULL
3949	307775422	Disease	p.Cys88Ser	606945.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	34	pfam00057	NULL
3949	307775412	Disease	p.Cys88Ser	606945.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	38	smart00192	NULL
3949	307775412	Disease	p.Cys88Ser	606945.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	47	cd00112	NULL
3949	307775412	Disease	p.Cys88Ser	606945.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	34	pfam00057	NULL
3949	307775414	Disease	p.Cys88Ser	606945.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	40	smart00192	NULL
3949	307775414	Disease	p.Cys88Ser	606945.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	49	cd00112	NULL
3949	307775414	Disease	p.Cys88Ser	606945.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, FAMILIAL	OMIM	39	pfam00057	NULL
3949	307775416	Disease	p.Arg385Arg	606945.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	32	pfam00058	NULL
3949	126073	Disease	p.Arg385Arg	606945.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	50	pfam07645	4504975,NP_000518
3949	126073	Disease	p.Arg385Arg	606945.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	71	cd00054	4504975,NP_000518
3949	126073	Disease	p.Arg385Arg	606945.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	65	smart00179	4504975,NP_000518
3949	126073	Disease	p.Arg385Arg	606945.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	68	smart00181	4504975,NP_000518
3949	126073	Disease	p.Arg385Arg	606945.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	67	cd00053	4504975,NP_000518
3949	307775420	Disease	p.Arg385Arg	606945.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	27	pfam00058	NULL
3949	307775420	Disease	p.Arg385Arg	606945.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	60	smart00135	NULL
3949	307775422	Disease	p.Arg385Arg	606945.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	35	pfam00058	NULL
3949	307775422	Disease	p.Arg385Arg	606945.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	4	smart00135	NULL
3949	307775412	Disease	p.Arg385Arg	606945.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	50	pfam07645	NULL
3949	307775412	Disease	p.Arg385Arg	606945.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	71	cd00054	NULL
3949	307775412	Disease	p.Arg385Arg	606945.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	65	smart00179	NULL
3949	307775412	Disease	p.Arg385Arg	606945.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	68	smart00181	NULL
3949	307775412	Disease	p.Arg385Arg	606945.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	67	cd00053	NULL
3949	307775414	Disease	p.Arg385Arg	606945.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
3949	307775416	Disease	p.Gly186Gly	606945.0066	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
3949	126073	Disease	p.Gly186Gly	606945.0066	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	4504975,NP_000518
3949	307775420	Disease	p.Gly186Gly	606945.0066	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	69	cd00112	NULL
3949	307775420	Disease	p.Gly186Gly	606945.0066	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	60	smart00192	NULL
3949	307775420	Disease	p.Gly186Gly	606945.0066	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	54	pfam00057	NULL
3949	307775422	Disease	p.Gly186Gly	606945.0066	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	5	cd00054	NULL
3949	307775412	Disease	p.Gly186Gly	606945.0066	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
3949	307775414	Disease	p.Gly186Gly	606945.0066	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	69	cd00112	NULL
3949	307775414	Disease	p.Gly186Gly	606945.0066	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	60	smart00192	NULL
3949	307775414	Disease	p.Gly186Gly	606945.0066	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606945	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT	OMIM	54	pfam00057	NULL
79796	118026935	Disease	p.Glu523Lys	606941.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606941	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il	OMIM	No Domain	N/A	NULL
79796	118026921	Disease	p.Glu523Lys	606941.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606941	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il	OMIM	No Domain	N/A	NULL
79796	118026937	Disease	p.Glu523Lys	606941.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606941	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il	OMIM	No Domain	N/A	NULL
79796	73921666	Disease	p.Glu523Lys	606941.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606941	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il	OMIM	No Domain	N/A	118026933,NP_001071158
79796	118026935	Disease	p.Tyr286Cys	606941.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606941	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il	OMIM	602	pfam03901	NULL
79796	118026921	Disease	p.Tyr286Cys	606941.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606941	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il	OMIM	399	pfam03901	NULL
79796	118026937	Disease	p.Tyr286Cys	606941.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606941	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il	OMIM	595	pfam03901	NULL
79796	73921666	Disease	p.Tyr286Cys	606941.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606941	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il	OMIM	399	pfam03901	118026933,NP_001071158
7390	122849	Disease	p.Cys73Arg	606938.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	79	COG1587	4557873,NP_000366
7390	122849	Disease	p.Cys73Arg	606938.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	99	cd06578	4557873,NP_000366
7390	122849	Disease	p.Cys73Arg	606938.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	75	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Pro53Leu	606938.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	55	COG1587	4557873,NP_000366
7390	122849	Disease	p.Pro53Leu	606938.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	77	cd06578	4557873,NP_000366
7390	122849	Disease	p.Pro53Leu	606938.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	51	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Ala66Val	606938.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	72	COG1587	4557873,NP_000366
7390	122849	Disease	p.Ala66Val	606938.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	92	cd06578	4557873,NP_000366
7390	122849	Disease	p.Ala66Val	606938.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	68	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Thr62Ala	606938.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	68	COG1587	4557873,NP_000366
7390	122849	Disease	p.Thr62Ala	606938.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	88	cd06578	4557873,NP_000366
7390	122849	Disease	p.Thr62Ala	606938.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	64	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Thr228Met	606938.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	260	COG1587	4557873,NP_000366
7390	122849	Disease	p.Thr228Met	606938.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	421	cd06578	4557873,NP_000366
7390	122849	Disease	p.Thr228Met	606938.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	348	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Leu4Phe	606938.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	5	COG1587	4557873,NP_000366
7390	122849	Disease	p.Leu4Phe	606938.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	2	cd06578	4557873,NP_000366
7390	122849	Disease	p.Val82Phe	606938.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	88	COG1587	4557873,NP_000366
7390	122849	Disease	p.Val82Phe	606938.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	108	cd06578	4557873,NP_000366
7390	122849	Disease	p.Val82Phe	606938.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	101	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Gly188Arg	606938.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	213	COG1587	4557873,NP_000366
7390	122849	Disease	p.Gly188Arg	606938.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	320	cd06578	4557873,NP_000366
7390	122849	Disease	p.Gly188Arg	606938.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	290	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Glu81Asp	606938.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	87	COG1587	4557873,NP_000366
7390	122849	Disease	p.Glu81Asp	606938.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	107	cd06578	4557873,NP_000366
7390	122849	Disease	p.Glu81Asp	606938.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	100	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Gly188Trp	606938.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	213	COG1587	4557873,NP_000366
7390	122849	Disease	p.Gly188Trp	606938.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	320	cd06578	4557873,NP_000366
7390	122849	Disease	p.Gly188Trp	606938.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	290	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Gly225Ser	606938.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	257	COG1587	4557873,NP_000366
7390	122849	Disease	p.Gly225Ser	606938.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	418	cd06578	4557873,NP_000366
7390	122849	Disease	p.Gly225Ser	606938.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	345	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Pro248Gln	606938.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	281	COG1587	4557873,NP_000366
7390	122849	Disease	p.Pro248Gln	606938.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	456	cd06578	4557873,NP_000366
7390	122849	Disease	p.Pro248Gln	606938.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606938	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	OMIM	375	pfam02602	4557873,NP_000366
54795	304766677	Disease	p.Glu7Lys	606936.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606936	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB	OMIM	No Domain	N/A	NULL
54795	74715868	Disease	p.Glu7Lys	606936.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606936	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB	OMIM	No Domain	N/A	21314671,NP_060106
7299	401235	Disease	p.Pro81Leu	606933.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA||ALBINISM, OCULOCUTANEOUS, TYPE IB	OMIM	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Thr355Lys	606933.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA	OMIM	771	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Asp365Asn	606933.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA	OMIM	781	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Arg77Gln	606933.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA	OMIM	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Pro406Leu	606933.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IB	OMIM	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Val275Phe	606933.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IB	OMIM	377	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Arg59Gln	606933.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA	OMIM	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Cys89Arg	606933.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA	OMIM	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Arg422Gln	606933.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS TYPE I, TEMPERATURE-SENSITIVE	OMIM	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Gly191Asp	606933.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA	OMIM	67	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Asn382Lys	606933.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA	OMIM	874	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Met96Asn	606933.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA	OMIM	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Asp42Gly	606933.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA	OMIM	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Cys55Tyr	606933.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA	OMIM	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Ala206Thr	606933.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA	OMIM	103	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Gly419Arg	606933.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA	OMIM	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Pro21Ser	606933.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA	OMIM	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Gly47Asp	606933.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA||ALBINISM, OCULOCUTANEOUS, TYPE IB	OMIM	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Arg217Trp	606933.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA	OMIM	114	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Arg299His	606933.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA	OMIM	452	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Asn371Thr	606933.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA	OMIM	789	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Arg403Ser	606933.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA	OMIM	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Gly446Ser	606933.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA	OMIM	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Asp448Asn	606933.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA	OMIM	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Leu216Met	606933.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IA	OMIM	113	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Met1Val	606933.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606933	ALBINISM, OCULOCUTANEOUS, TYPE IB	OMIM	No Domain	N/A	4507753,NP_000363
157680	308153515	Disease	p.Arg1563His	606897.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606897	CHEDIAK-HIGASHI SYNDROME, ADULT TYPE	OMIM	No Domain	N/A	35493713,NP_060360
157680	35493701	Disease	p.Arg1563His	606897.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606897	CHEDIAK-HIGASHI SYNDROME, ADULT TYPE	OMIM	No Domain	N/A	NULL
157680	35493725	Disease	p.Arg1563His	606897.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606897	CHEDIAK-HIGASHI SYNDROME, ADULT TYPE	OMIM	No Domain	N/A	NULL
157680	119874215	Disease	p.Arg1563His	606897.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606897	CHEDIAK-HIGASHI SYNDROME, ADULT TYPE	OMIM	No Domain	N/A	NULL
157680	308153515	Disease	p.Val1999Asp	606897.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606897	CHEDIAK-HIGASHI SYNDROME, ADULT TYPE	OMIM	No Domain	N/A	35493713,NP_060360
157680	35493701	Disease	p.Val1999Asp	606897.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606897	CHEDIAK-HIGASHI SYNDROME, ADULT TYPE	OMIM	No Domain	N/A	NULL
157680	35493725	Disease	p.Val1999Asp	606897.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606897	CHEDIAK-HIGASHI SYNDROME, ADULT TYPE	OMIM	No Domain	N/A	NULL
157680	119874215	Disease	p.Val1999Asp	606897.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606897	CHEDIAK-HIGASHI SYNDROME, ADULT TYPE	OMIM	No Domain	N/A	NULL
6821	152031695	Disease	p.Arg160Gln	606887.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	158	pfam00173	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg160Gln	606887.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	21	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg160Gln	606887.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	158	pfam00173	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg160Gln	606887.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	21	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg160Gln	606887.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	158	pfam00173	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg160Gln	606887.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	21	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala208Asp	606887.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	10	cd02108	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala208Asp	606887.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	7	cd02109	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala208Asp	606887.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	24	cd02111	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala208Asp	606887.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	42	cd02114	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala208Asp	606887.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	77	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala208Asp	606887.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	39	cd02112	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala208Asp	606887.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	10	cd02108	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala208Asp	606887.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	7	cd02109	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala208Asp	606887.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	24	cd02111	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala208Asp	606887.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	42	cd02114	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala208Asp	606887.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	77	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala208Asp	606887.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	39	cd02112	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala208Asp	606887.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	10	cd02108	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala208Asp	606887.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	7	cd02109	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala208Asp	606887.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	24	cd02111	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala208Asp	606887.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	42	cd02114	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala208Asp	606887.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	77	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala208Asp	606887.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	39	cd02112	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	522	pfam00174	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	166	cd02108	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	154	cd02109	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	234	cd02111	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	189	cd02110	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	173	cd02113	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	244	cd00321	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	202	cd02114	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	298	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	233	cd02112	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	522	pfam00174	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	166	cd02108	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	154	cd02109	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	234	cd02111	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	189	cd02110	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	173	cd02113	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	244	cd00321	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	202	cd02114	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	298	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	233	cd02112	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	522	pfam00174	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	166	cd02108	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	154	cd02109	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	234	cd02111	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	189	cd02110	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	173	cd02113	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	244	cd00321	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	202	cd02114	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	298	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser370Tyr	606887.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	233	cd02112	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	398	cd02111	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	311	cd02110	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	269	cd02113	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	68	pfam03404	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	311	cd02114	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	417	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	355	cd02112	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	398	cd02111	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	311	cd02110	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	269	cd02113	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	68	pfam03404	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	311	cd02114	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	417	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	355	cd02112	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	398	cd02111	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	311	cd02110	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	269	cd02113	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	68	pfam03404	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	311	cd02114	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	417	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly473Asp	606887.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606887	SULFITE OXIDASE DEFICIENCY, ISOLATED	OMIM	355	cd02112	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
35	113019	Disease	p.Arg46Trp	606885.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	26	pfam02771	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	606885.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	14	cd01156	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	606885.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	11	cd01158	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	606885.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	11	cd01155	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	606885.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	11	cd01152	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	606885.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	11	cd01160	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	606885.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	11	cd00567	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	606885.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	44	cd01161	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	606885.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	6	cd01153	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	606885.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	19	cd01154	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	606885.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	13	cd01157	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	606885.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	13	cd01162	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	606885.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	37	COG1960	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	606885.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	25	cd01151	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	606885.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	4	cd01159	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	606885.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	4	cd01163	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	606885.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	180	pfam02771	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	606885.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	77	cd01156	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	606885.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	75	cd01158	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	606885.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	111	cd01155	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	606885.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	85	cd01152	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	606885.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	73	cd01160	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	606885.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	91	cd00567	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	606885.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	107	cd01161	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	606885.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	81	cd01153	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	606885.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	106	cd01154	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	606885.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	74	cd01157	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	606885.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	74	cd01162	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	606885.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	171	COG1960	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	606885.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	88	cd01151	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	606885.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	64	cd01159	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	606885.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	64	cd01163	4557233,NP_000008
35	113019	Disease	p.Gly68Cys	606885.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	95	pfam02771	4557233,NP_000008
35	113019	Disease	p.Gly68Cys	606885.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	38	cd01156	4557233,NP_000008
35	113019	Disease	p.Gly68Cys	606885.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	33	cd01158	4557233,NP_000008
35	113019	Disease	p.Gly68Cys	606885.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	33	cd01155	4557233,NP_000008
35	113019	Disease	p.Gly68Cys	606885.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	46	cd01152	4557233,NP_000008
35	113019	Disease	p.Gly68Cys	606885.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	33	cd01160	4557233,NP_000008
35	113019	Disease	p.Gly68Cys	606885.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	49	cd00567	4557233,NP_000008
35	113019	Disease	p.Gly68Cys	606885.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	68	cd01161	4557233,NP_000008
35	113019	Disease	p.Gly68Cys	606885.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	36	cd01153	4557233,NP_000008
35	113019	Disease	p.Gly68Cys	606885.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	58	cd01154	4557233,NP_000008
35	113019	Disease	p.Gly68Cys	606885.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	35	cd01157	4557233,NP_000008
35	113019	Disease	p.Gly68Cys	606885.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	35	cd01162	4557233,NP_000008
35	113019	Disease	p.Gly68Cys	606885.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	110	COG1960	4557233,NP_000008
35	113019	Disease	p.Gly68Cys	606885.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	49	cd01151	4557233,NP_000008
35	113019	Disease	p.Gly68Cys	606885.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	25	cd01159	4557233,NP_000008
35	113019	Disease	p.Gly68Cys	606885.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	25	cd01163	4557233,NP_000008
35	113019	Disease	p.Trp153Arg	606885.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	123	cd01156	4557233,NP_000008
35	113019	Disease	p.Trp153Arg	606885.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	121	cd01158	4557233,NP_000008
35	113019	Disease	p.Trp153Arg	606885.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	159	cd01155	4557233,NP_000008
35	113019	Disease	p.Trp153Arg	606885.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	133	cd01152	4557233,NP_000008
35	113019	Disease	p.Trp153Arg	606885.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	120	cd01160	4557233,NP_000008
35	113019	Disease	p.Trp153Arg	606885.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	149	cd00567	4557233,NP_000008
35	113019	Disease	p.Trp153Arg	606885.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	153	cd01161	4557233,NP_000008
35	113019	Disease	p.Trp153Arg	606885.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	126	cd01153	4557233,NP_000008
35	113019	Disease	p.Trp153Arg	606885.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	172	cd01154	4557233,NP_000008
35	113019	Disease	p.Trp153Arg	606885.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	119	cd01157	4557233,NP_000008
35	113019	Disease	p.Trp153Arg	606885.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	119	cd01162	4557233,NP_000008
35	113019	Disease	p.Trp153Arg	606885.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	3	pfam02770	4557233,NP_000008
35	113019	Disease	p.Trp153Arg	606885.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	234	COG1960	4557233,NP_000008
35	113019	Disease	p.Trp153Arg	606885.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	134	cd01151	4557233,NP_000008
35	113019	Disease	p.Trp153Arg	606885.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	103	cd01159	4557233,NP_000008
35	113019	Disease	p.Trp153Arg	606885.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	110	cd01163	4557233,NP_000008
35	113019	Disease	p.Arg359Cys	606885.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	336	cd01156	4557233,NP_000008
35	113019	Disease	p.Arg359Cys	606885.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	331	cd01158	4557233,NP_000008
35	113019	Disease	p.Arg359Cys	606885.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	390	cd01155	4557233,NP_000008
35	113019	Disease	p.Arg359Cys	606885.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	348	cd01152	4557233,NP_000008
35	113019	Disease	p.Arg359Cys	606885.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	328	cd01160	4557233,NP_000008
35	113019	Disease	p.Arg359Cys	606885.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	430	cd00567	4557233,NP_000008
35	113019	Disease	p.Arg359Cys	606885.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	385	cd01161	4557233,NP_000008
35	113019	Disease	p.Arg359Cys	606885.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	111	pfam08028	4557233,NP_000008
35	113019	Disease	p.Arg359Cys	606885.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	404	cd01153	4557233,NP_000008
35	113019	Disease	p.Arg359Cys	606885.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	119	pfam00441	4557233,NP_000008
35	113019	Disease	p.Arg359Cys	606885.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	412	cd01154	4557233,NP_000008
35	113019	Disease	p.Arg359Cys	606885.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	328	cd01157	4557233,NP_000008
35	113019	Disease	p.Arg359Cys	606885.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	334	cd01162	4557233,NP_000008
35	113019	Disease	p.Arg359Cys	606885.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	569	COG1960	4557233,NP_000008
35	113019	Disease	p.Arg359Cys	606885.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	349	cd01151	4557233,NP_000008
35	113019	Disease	p.Arg359Cys	606885.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	344	cd01159	4557233,NP_000008
35	113019	Disease	p.Arg359Cys	606885.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	367	cd01163	4557233,NP_000008
35	113019	Disease	p.Arg147Trp	606885.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	117	cd01156	4557233,NP_000008
35	113019	Disease	p.Arg147Trp	606885.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	115	cd01158	4557233,NP_000008
35	113019	Disease	p.Arg147Trp	606885.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	153	cd01155	4557233,NP_000008
35	113019	Disease	p.Arg147Trp	606885.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	127	cd01152	4557233,NP_000008
35	113019	Disease	p.Arg147Trp	606885.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	114	cd01160	4557233,NP_000008
35	113019	Disease	p.Arg147Trp	606885.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	143	cd00567	4557233,NP_000008
35	113019	Disease	p.Arg147Trp	606885.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	147	cd01161	4557233,NP_000008
35	113019	Disease	p.Arg147Trp	606885.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	120	cd01153	4557233,NP_000008
35	113019	Disease	p.Arg147Trp	606885.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	156	cd01154	4557233,NP_000008
35	113019	Disease	p.Arg147Trp	606885.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	113	cd01157	4557233,NP_000008
35	113019	Disease	p.Arg147Trp	606885.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	113	cd01162	4557233,NP_000008
35	113019	Disease	p.Arg147Trp	606885.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	228	COG1960	4557233,NP_000008
35	113019	Disease	p.Arg147Trp	606885.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	128	cd01151	4557233,NP_000008
35	113019	Disease	p.Arg147Trp	606885.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	97	cd01159	4557233,NP_000008
35	113019	Disease	p.Arg147Trp	606885.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	105	cd01163	4557233,NP_000008
35	113019	Disease	p.Gly185Ser	606885.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	155	cd01156	4557233,NP_000008
35	113019	Disease	p.Gly185Ser	606885.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	154	cd01158	4557233,NP_000008
35	113019	Disease	p.Gly185Ser	606885.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	192	cd01155	4557233,NP_000008
35	113019	Disease	p.Gly185Ser	606885.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	165	cd01152	4557233,NP_000008
35	113019	Disease	p.Gly185Ser	606885.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	152	cd01160	4557233,NP_000008
35	113019	Disease	p.Gly185Ser	606885.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	195	cd00567	4557233,NP_000008
35	113019	Disease	p.Gly185Ser	606885.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	187	cd01161	4557233,NP_000008
35	113019	Disease	p.Gly185Ser	606885.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	163	cd01153	4557233,NP_000008
35	113019	Disease	p.Gly185Ser	606885.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	209	cd01154	4557233,NP_000008
35	113019	Disease	p.Gly185Ser	606885.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	151	cd01157	4557233,NP_000008
35	113019	Disease	p.Gly185Ser	606885.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	155	cd01162	4557233,NP_000008
35	113019	Disease	p.Gly185Ser	606885.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	56	pfam02770	4557233,NP_000008
35	113019	Disease	p.Gly185Ser	606885.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	285	COG1960	4557233,NP_000008
35	113019	Disease	p.Gly185Ser	606885.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	169	cd01151	4557233,NP_000008
35	113019	Disease	p.Gly185Ser	606885.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	134	cd01159	4557233,NP_000008
35	113019	Disease	p.Gly185Ser	606885.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	146	cd01163	4557233,NP_000008
35	113019	Disease	p.Gly66Ser	606885.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	86	pfam02771	4557233,NP_000008
35	113019	Disease	p.Gly66Ser	606885.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	34	cd01156	4557233,NP_000008
35	113019	Disease	p.Gly66Ser	606885.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	31	cd01158	4557233,NP_000008
35	113019	Disease	p.Gly66Ser	606885.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	31	cd01155	4557233,NP_000008
35	113019	Disease	p.Gly66Ser	606885.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	44	cd01152	4557233,NP_000008
35	113019	Disease	p.Gly66Ser	606885.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	31	cd01160	4557233,NP_000008
35	113019	Disease	p.Gly66Ser	606885.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	47	cd00567	4557233,NP_000008
35	113019	Disease	p.Gly66Ser	606885.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	62	cd01161	4557233,NP_000008
35	113019	Disease	p.Gly66Ser	606885.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	34	cd01153	4557233,NP_000008
35	113019	Disease	p.Gly66Ser	606885.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	56	cd01154	4557233,NP_000008
35	113019	Disease	p.Gly66Ser	606885.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	33	cd01157	4557233,NP_000008
35	113019	Disease	p.Gly66Ser	606885.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	33	cd01162	4557233,NP_000008
35	113019	Disease	p.Gly66Ser	606885.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	79	COG1960	4557233,NP_000008
35	113019	Disease	p.Gly66Ser	606885.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	45	cd01151	4557233,NP_000008
35	113019	Disease	p.Gly66Ser	606885.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	23	cd01159	4557233,NP_000008
35	113019	Disease	p.Gly66Ser	606885.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	23	cd01163	4557233,NP_000008
35	113019	Disease	p.Ala168Val	606885.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	138	cd01156	4557233,NP_000008
35	113019	Disease	p.Ala168Val	606885.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	136	cd01158	4557233,NP_000008
35	113019	Disease	p.Ala168Val	606885.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	175	cd01155	4557233,NP_000008
35	113019	Disease	p.Ala168Val	606885.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	148	cd01152	4557233,NP_000008
35	113019	Disease	p.Ala168Val	606885.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	135	cd01160	4557233,NP_000008
35	113019	Disease	p.Ala168Val	606885.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	169	cd00567	4557233,NP_000008
35	113019	Disease	p.Ala168Val	606885.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	168	cd01161	4557233,NP_000008
35	113019	Disease	p.Ala168Val	606885.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	141	cd01153	4557233,NP_000008
35	113019	Disease	p.Ala168Val	606885.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	190	cd01154	4557233,NP_000008
35	113019	Disease	p.Ala168Val	606885.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	134	cd01157	4557233,NP_000008
35	113019	Disease	p.Ala168Val	606885.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	134	cd01162	4557233,NP_000008
35	113019	Disease	p.Ala168Val	606885.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	27	pfam02770	4557233,NP_000008
35	113019	Disease	p.Ala168Val	606885.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	254	COG1960	4557233,NP_000008
35	113019	Disease	p.Ala168Val	606885.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	149	cd01151	4557233,NP_000008
35	113019	Disease	p.Ala168Val	606885.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	113	cd01159	4557233,NP_000008
35	113019	Disease	p.Ala168Val	606885.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	127	cd01163	4557233,NP_000008
35	113019	Disease	p.Arg301Trp	606885.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	273	cd01156	4557233,NP_000008
35	113019	Disease	p.Arg301Trp	606885.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	272	cd01158	4557233,NP_000008
35	113019	Disease	p.Arg301Trp	606885.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	330	cd01155	4557233,NP_000008
35	113019	Disease	p.Arg301Trp	606885.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	287	cd01152	4557233,NP_000008
35	113019	Disease	p.Arg301Trp	606885.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	270	cd01160	4557233,NP_000008
35	113019	Disease	p.Arg301Trp	606885.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	359	cd00567	4557233,NP_000008
35	113019	Disease	p.Arg301Trp	606885.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	308	cd01161	4557233,NP_000008
35	113019	Disease	p.Arg301Trp	606885.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	36	pfam08028	4557233,NP_000008
35	113019	Disease	p.Arg301Trp	606885.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	314	cd01153	4557233,NP_000008
35	113019	Disease	p.Arg301Trp	606885.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	47	pfam00441	4557233,NP_000008
35	113019	Disease	p.Arg301Trp	606885.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	342	cd01154	4557233,NP_000008
35	113019	Disease	p.Arg301Trp	606885.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	270	cd01157	4557233,NP_000008
35	113019	Disease	p.Arg301Trp	606885.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	275	cd01162	4557233,NP_000008
35	113019	Disease	p.Arg301Trp	606885.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	469	COG1960	4557233,NP_000008
35	113019	Disease	p.Arg301Trp	606885.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	291	cd01151	4557233,NP_000008
35	113019	Disease	p.Arg301Trp	606885.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	273	cd01159	4557233,NP_000008
35	113019	Disease	p.Arg301Trp	606885.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	276	cd01163	4557233,NP_000008
35	113019	Disease	p.Ser329Leu	606885.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	301	cd01156	4557233,NP_000008
35	113019	Disease	p.Ser329Leu	606885.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	300	cd01158	4557233,NP_000008
35	113019	Disease	p.Ser329Leu	606885.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	358	cd01155	4557233,NP_000008
35	113019	Disease	p.Ser329Leu	606885.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	315	cd01152	4557233,NP_000008
35	113019	Disease	p.Ser329Leu	606885.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	298	cd01160	4557233,NP_000008
35	113019	Disease	p.Ser329Leu	606885.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	387	cd00567	4557233,NP_000008
35	113019	Disease	p.Ser329Leu	606885.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	338_G	cd01161	4557233,NP_000008
35	113019	Disease	p.Ser329Leu	606885.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	64	pfam08028	4557233,NP_000008
35	113019	Disease	p.Ser329Leu	606885.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	355	cd01153	4557233,NP_000008
35	113019	Disease	p.Ser329Leu	606885.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	77	pfam00441	4557233,NP_000008
35	113019	Disease	p.Ser329Leu	606885.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	370	cd01154	4557233,NP_000008
35	113019	Disease	p.Ser329Leu	606885.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	298	cd01157	4557233,NP_000008
35	113019	Disease	p.Ser329Leu	606885.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	303	cd01162	4557233,NP_000008
35	113019	Disease	p.Ser329Leu	606885.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	511	COG1960	4557233,NP_000008
35	113019	Disease	p.Ser329Leu	606885.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	319	cd01151	4557233,NP_000008
35	113019	Disease	p.Ser329Leu	606885.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	306	cd01159	4557233,NP_000008
35	113019	Disease	p.Ser329Leu	606885.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	316	cd01163	4557233,NP_000008
35	113019	Disease	p.Arg356Trp	606885.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	333	cd01156	4557233,NP_000008
35	113019	Disease	p.Arg356Trp	606885.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	328	cd01158	4557233,NP_000008
35	113019	Disease	p.Arg356Trp	606885.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	387	cd01155	4557233,NP_000008
35	113019	Disease	p.Arg356Trp	606885.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	345	cd01152	4557233,NP_000008
35	113019	Disease	p.Arg356Trp	606885.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	325	cd01160	4557233,NP_000008
35	113019	Disease	p.Arg356Trp	606885.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	427	cd00567	4557233,NP_000008
35	113019	Disease	p.Arg356Trp	606885.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	382	cd01161	4557233,NP_000008
35	113019	Disease	p.Arg356Trp	606885.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	108	pfam08028	4557233,NP_000008
35	113019	Disease	p.Arg356Trp	606885.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	401	cd01153	4557233,NP_000008
35	113019	Disease	p.Arg356Trp	606885.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	116	pfam00441	4557233,NP_000008
35	113019	Disease	p.Arg356Trp	606885.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	409	cd01154	4557233,NP_000008
35	113019	Disease	p.Arg356Trp	606885.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	325	cd01157	4557233,NP_000008
35	113019	Disease	p.Arg356Trp	606885.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	331	cd01162	4557233,NP_000008
35	113019	Disease	p.Arg356Trp	606885.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	566	COG1960	4557233,NP_000008
35	113019	Disease	p.Arg356Trp	606885.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	346	cd01151	4557233,NP_000008
35	113019	Disease	p.Arg356Trp	606885.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	342	cd01159	4557233,NP_000008
35	113019	Disease	p.Arg356Trp	606885.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606885	SCAD DEFICIENCY	OMIM	364	cd01163	4557233,NP_000008
540	239938919	Disease	p.His714Gln	606882.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	113	COG0474	55743071,NP_000044
540	239938919	Disease	p.His714Gln	606882.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	303	COG2217	55743071,NP_000044
540	55743073	Disease	p.His714Gln	606882.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	417	COG0474	NULL
540	55743073	Disease	p.His714Gln	606882.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	191	COG2216	NULL
540	55743073	Disease	p.His714Gln	606882.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	512	COG2217	NULL
540	55743073	Disease	p.His714Gln	606882.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	291	pfam00122	NULL
540	239938919	Disease	p.Asn915Ser	606882.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	511	COG0474	55743071,NP_000044
540	239938919	Disease	p.Asn915Ser	606882.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	382	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Asn915Ser	606882.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	551	COG2217	55743071,NP_000044
540	239938919	Disease	p.Asn915Ser	606882.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	229_G	COG2216	55743071,NP_000044
540	55743073	Disease	p.Asn915Ser	606882.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	848	COG0474	NULL
540	55743073	Disease	p.Asn915Ser	606882.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	434	COG2216	NULL
540	55743073	Disease	p.Asn915Ser	606882.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	820_G	COG2217	NULL
540	55743073	Disease	p.Asn915Ser	606882.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	183	pfam00702	NULL
540	239938919	Disease	p.His1069Gln	606882.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	770	COG0474	55743071,NP_000044
540	239938919	Disease	p.His1069Gln	606882.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	739	COG2217	55743071,NP_000044
540	239938919	Disease	p.His1069Gln	606882.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	373	COG2216	55743071,NP_000044
540	239938919	Disease	p.His1069Gln	606882.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	120	pfam00702	55743071,NP_000044
540	55743073	Disease	p.His1069Gln	606882.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	115	COG4087	NULL
540	55743073	Disease	p.His1069Gln	606882.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	1403	COG0474	NULL
540	55743073	Disease	p.His1069Gln	606882.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	604	COG2216	NULL
540	55743073	Disease	p.His1069Gln	606882.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	995	COG2217	NULL
540	55743073	Disease	p.His1069Gln	606882.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	469	pfam00702	NULL
540	55743073	Disease	p.His1069Gln	606882.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	530	cd01427	NULL
540	239938919	Disease	p.Gly1267Arg	606882.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	106	COG4087	55743071,NP_000044
540	239938919	Disease	p.Gly1267Arg	606882.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	1394	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1267Arg	606882.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	986	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1267Arg	606882.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	595	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1267Arg	606882.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	460	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Gly1267Arg	606882.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	504	cd01427	55743071,NP_000044
540	55743073	Disease	p.Gly1267Arg	606882.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	No Domain	N/A	NULL
540	239938919	Disease	p.Arg778Leu	606882.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	215	COG0474	55743071,NP_000044
540	239938919	Disease	p.Arg778Leu	606882.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	10	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Arg778Leu	606882.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	383	COG2217	55743071,NP_000044
540	239938919	Disease	p.Arg778Leu	606882.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	49	COG2216	55743071,NP_000044
540	55743073	Disease	p.Arg778Leu	606882.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	579	COG0474	NULL
540	55743073	Disease	p.Arg778Leu	606882.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	283	COG2216	NULL
540	55743073	Disease	p.Arg778Leu	606882.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	637	COG2217	NULL
540	55743073	Disease	p.Arg778Leu	606882.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	541	pfam00122	NULL
540	239938919	Disease	p.Asp765Asn	606882.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	201	COG0474	55743071,NP_000044
540	239938919	Disease	p.Asp765Asn	606882.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	370	COG2217	55743071,NP_000044
540	239938919	Disease	p.Asp765Asn	606882.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	31	COG2216	55743071,NP_000044
540	55743073	Disease	p.Asp765Asn	606882.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	566	COG0474	NULL
540	55743073	Disease	p.Asp765Asn	606882.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	253	COG2216	NULL
540	55743073	Disease	p.Asp765Asn	606882.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	618	COG2217	NULL
540	55743073	Disease	p.Asp765Asn	606882.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	527	pfam00122	NULL
540	239938919	Disease	p.Gly943Ser	606882.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	537_G	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly943Ser	606882.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	428	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Gly943Ser	606882.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	581	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly943Ser	606882.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	248	COG2216	55743071,NP_000044
540	55743073	Disease	p.Gly943Ser	606882.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	1042	COG0474	NULL
540	55743073	Disease	p.Gly943Ser	606882.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	473	COG2216	NULL
540	55743073	Disease	p.Gly943Ser	606882.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	832	COG2217	NULL
540	55743073	Disease	p.Gly943Ser	606882.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	242	pfam00702	NULL
540	239938919	Disease	p.Arg919Gly	606882.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	515	COG0474	55743071,NP_000044
540	239938919	Disease	p.Arg919Gly	606882.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	386	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Arg919Gly	606882.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	555	COG2217	55743071,NP_000044
540	239938919	Disease	p.Arg919Gly	606882.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	229_G	COG2216	55743071,NP_000044
540	55743073	Disease	p.Arg919Gly	606882.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	854	COG0474	NULL
540	55743073	Disease	p.Arg919Gly	606882.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	440	COG2216	NULL
540	55743073	Disease	p.Arg919Gly	606882.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	820_G	COG2217	NULL
540	55743073	Disease	p.Arg919Gly	606882.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	187	pfam00702	NULL
540	239938919	Disease	p.Ala874Val	606882.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	415	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ala874Val	606882.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	289	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Ala874Val	606882.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	510	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ala874Val	606882.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	189	COG2216	55743071,NP_000044
540	55743073	Disease	p.Ala874Val	606882.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	779	COG0474	NULL
540	55743073	Disease	p.Ala874Val	606882.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	385	COG2216	NULL
540	55743073	Disease	p.Ala874Val	606882.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	763	COG2217	NULL
540	55743073	Disease	p.Ala874Val	606882.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	142	pfam00702	NULL
540	239938919	Disease	p.Asn1270Ser	606882.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	109	COG4087	55743071,NP_000044
540	239938919	Disease	p.Asn1270Ser	606882.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	1397	COG0474	55743071,NP_000044
540	239938919	Disease	p.Asn1270Ser	606882.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	989	COG2217	55743071,NP_000044
540	239938919	Disease	p.Asn1270Ser	606882.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	598	COG2216	55743071,NP_000044
540	239938919	Disease	p.Asn1270Ser	606882.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	463	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Asn1270Ser	606882.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	524	cd01427	55743071,NP_000044
540	55743073	Disease	p.Asn1270Ser	606882.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	No Domain	N/A	NULL
540	239938919	Disease	p.Arg969Gln	606882.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	551	COG0474	55743071,NP_000044
540	239938919	Disease	p.Arg969Gln	606882.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	524	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Arg969Gln	606882.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	615	COG2217	55743071,NP_000044
540	239938919	Disease	p.Arg969Gln	606882.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	272	COG2216	55743071,NP_000044
540	55743073	Disease	p.Arg969Gln	606882.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	8	COG4087	NULL
540	55743073	Disease	p.Arg969Gln	606882.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	1177	COG0474	NULL
540	55743073	Disease	p.Arg969Gln	606882.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	499	COG2216	NULL
540	55743073	Disease	p.Arg969Gln	606882.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	860	COG2217	NULL
540	55743073	Disease	p.Arg969Gln	606882.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	268	pfam00702	NULL
540	239938919	Disease	p.Thr766Arg	606882.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	202	COG0474	55743071,NP_000044
540	239938919	Disease	p.Thr766Arg	606882.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	371	COG2217	55743071,NP_000044
540	239938919	Disease	p.Thr766Arg	606882.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	32	COG2216	55743071,NP_000044
540	55743073	Disease	p.Thr766Arg	606882.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	567	COG0474	NULL
540	55743073	Disease	p.Thr766Arg	606882.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	254	COG2216	NULL
540	55743073	Disease	p.Thr766Arg	606882.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	619	COG2217	NULL
540	55743073	Disease	p.Thr766Arg	606882.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	528	pfam00122	NULL
540	239938919	Disease	p.Met645Arg	606882.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	190	COG2217	55743071,NP_000044
540	55743073	Disease	p.Met645Arg	606882.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	256	COG0474	NULL
540	55743073	Disease	p.Met645Arg	606882.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	110	COG2216	NULL
540	55743073	Disease	p.Met645Arg	606882.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	412	COG2217	NULL
540	55743073	Disease	p.Met645Arg	606882.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	43	pfam00122	NULL
540	239938919	Disease	p.Ile1148Thr	606882.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	1040	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ile1148Thr	606882.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	830	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ile1148Thr	606882.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	471	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ile1148Thr	606882.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	240	pfam00702	55743071,NP_000044
540	55743073	Disease	p.Ile1148Thr	606882.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	1671	COG0474	NULL
540	55743073	Disease	p.Ile1148Thr	606882.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	764	COG2216	NULL
540	55743073	Disease	p.Ile1148Thr	606882.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	1090	COG2217	NULL
540	239938919	Disease	p.Leu708Pro	606882.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	104	COG0474	55743071,NP_000044
540	239938919	Disease	p.Leu708Pro	606882.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	273	COG2217	55743071,NP_000044
540	55743073	Disease	p.Leu708Pro	606882.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	411	COG0474	NULL
540	55743073	Disease	p.Leu708Pro	606882.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	184	COG2216	NULL
540	55743073	Disease	p.Leu708Pro	606882.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	506	COG2217	NULL
540	55743073	Disease	p.Leu708Pro	606882.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	272	pfam00122	NULL
540	239938919	Disease	p.Gly691Arg	606882.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	55	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly691Arg	606882.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	256	COG2217	55743071,NP_000044
540	55743073	Disease	p.Gly691Arg	606882.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	311	COG0474	NULL
540	55743073	Disease	p.Gly691Arg	606882.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	164	COG2216	NULL
540	55743073	Disease	p.Gly691Arg	606882.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	476	COG2217	NULL
540	55743073	Disease	p.Gly691Arg	606882.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606882	WILSON DISEASE	OMIM	195	pfam00122	NULL
26227	21264510	Disease	p.Val490Met	606879.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606879	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	OMIM	No Domain	N/A	23308577,NP_006614
26227	21264510	Disease	p.Val425Met	606879.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606879	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	OMIM	No Domain	N/A	23308577,NP_006614
26227	21264510	Disease	p.Arg135Trp	606879.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606879	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	OMIM	222	COG1052	23308577,NP_006614
26227	21264510	Disease	p.Arg135Trp	606879.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606879	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	OMIM	154	COG0111	23308577,NP_006614
26227	21264510	Disease	p.Arg135Trp	606879.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606879	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	OMIM	41	pfam02826	23308577,NP_006614
26227	21264510	Disease	p.Arg135Trp	606879.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606879	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	OMIM	156	pfam00389	23308577,NP_006614
26227	21264510	Disease	p.Gly377Ser	606879.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606879	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	OMIM	No Domain	N/A	23308577,NP_006614
26227	21264510	Disease	p.Val261Met	606879.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606879	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	OMIM	380	COG1052	23308577,NP_006614
26227	21264510	Disease	p.Val261Met	606879.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606879	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	OMIM	303	COG0111	23308577,NP_006614
26227	21264510	Disease	p.Val261Met	606879.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606879	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	OMIM	191	pfam02826	23308577,NP_006614
26227	21264510	Disease	p.Val261Met	606879.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606879	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	OMIM	301	pfam00389	23308577,NP_006614
3074	123081	Disease	p.Tyr456Ser	606873.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, JUVENILE TYPE	OMIM	461	pfam00728	4504373,NP_000512
3074	123081	Disease	p.Tyr456Ser	606873.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, JUVENILE TYPE	OMIM	368	cd06563	4504373,NP_000512
3074	123081	Disease	p.Tyr456Ser	606873.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, JUVENILE TYPE	OMIM	260_G	cd06570	4504373,NP_000512
3074	123081	Disease	p.Tyr456Ser	606873.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, JUVENILE TYPE	OMIM	316	cd06568	4504373,NP_000512
3074	123081	Disease	p.Tyr456Ser	606873.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, JUVENILE TYPE	OMIM	323	cd06562	4504373,NP_000512
3074	123081	Disease	p.Tyr456Ser	606873.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, JUVENILE TYPE	OMIM	423	cd06564	4504373,NP_000512
3074	123081	Disease	p.Tyr456Ser	606873.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, JUVENILE TYPE	OMIM	415	cd06569	4504373,NP_000512
3074	123081	Disease	p.Tyr456Ser	606873.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, JUVENILE TYPE	OMIM	330	cd06565	4504373,NP_000512
3074	123081	Disease	p.Tyr456Ser	606873.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, JUVENILE TYPE	OMIM	378	cd02742	4504373,NP_000512
3074	123081	Disease	p.Pro417Leu	606873.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, JUVENILE TYPE	OMIM	394	pfam00728	4504373,NP_000512
3074	123081	Disease	p.Pro417Leu	606873.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, JUVENILE TYPE	OMIM	325	cd06563	4504373,NP_000512
3074	123081	Disease	p.Pro417Leu	606873.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, JUVENILE TYPE	OMIM	218	cd06570	4504373,NP_000512
3074	123081	Disease	p.Pro417Leu	606873.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, JUVENILE TYPE	OMIM	234	cd06568	4504373,NP_000512
3074	123081	Disease	p.Pro417Leu	606873.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, JUVENILE TYPE	OMIM	279	cd06562	4504373,NP_000512
3074	123081	Disease	p.Pro417Leu	606873.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, JUVENILE TYPE	OMIM	360	cd06564	4504373,NP_000512
3074	123081	Disease	p.Pro417Leu	606873.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, JUVENILE TYPE	OMIM	355	cd06569	4504373,NP_000512
3074	123081	Disease	p.Pro417Leu	606873.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, JUVENILE TYPE	OMIM	272	cd06565	4504373,NP_000512
3074	123081	Disease	p.Pro417Leu	606873.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, JUVENILE TYPE	OMIM	311	cd02742	4504373,NP_000512
3074	123081	Disease	p.Lys121Arg	606873.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	HEXB POLYMORPHISM	OMIM	57	pfam02838	4504373,NP_000512
3074	123081	Disease	p.Arg505Gln	606873.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, ADULT TYPE	OMIM	579	pfam00728	4504373,NP_000512
3074	123081	Disease	p.Arg505Gln	606873.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, ADULT TYPE	OMIM	562	cd06563	4504373,NP_000512
3074	123081	Disease	p.Arg505Gln	606873.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, ADULT TYPE	OMIM	436	cd06570	4504373,NP_000512
3074	123081	Disease	p.Arg505Gln	606873.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, ADULT TYPE	OMIM	385	cd06568	4504373,NP_000512
3074	123081	Disease	p.Arg505Gln	606873.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, ADULT TYPE	OMIM	408	cd06562	4504373,NP_000512
3074	123081	Disease	p.Arg505Gln	606873.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, ADULT TYPE	OMIM	496	cd06564	4504373,NP_000512
3074	123081	Disease	p.Arg505Gln	606873.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, ADULT TYPE	OMIM	508	cd06569	4504373,NP_000512
3074	123081	Disease	p.Arg505Gln	606873.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, ADULT TYPE	OMIM	389	cd06565	4504373,NP_000512
3074	123081	Disease	p.Arg505Gln	606873.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, ADULT TYPE	OMIM	555	cd02742	4504373,NP_000512
3074	123081	Disease	p.Pro405Leu	606873.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, ADULT TYPE	OMIM	351	pfam00728	4504373,NP_000512
3074	123081	Disease	p.Pro405Leu	606873.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, ADULT TYPE	OMIM	298	cd06563	4504373,NP_000512
3074	123081	Disease	p.Pro405Leu	606873.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, ADULT TYPE	OMIM	208	cd06570	4504373,NP_000512
3074	123081	Disease	p.Pro405Leu	606873.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, ADULT TYPE	OMIM	222	cd06568	4504373,NP_000512
3074	123081	Disease	p.Pro405Leu	606873.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, ADULT TYPE	OMIM	255	cd06562	4504373,NP_000512
3074	123081	Disease	p.Pro405Leu	606873.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, ADULT TYPE	OMIM	340	cd06564	4504373,NP_000512
3074	123081	Disease	p.Pro405Leu	606873.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, ADULT TYPE	OMIM	326	cd06569	4504373,NP_000512
3074	123081	Disease	p.Pro405Leu	606873.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, ADULT TYPE	OMIM	228	cd06565	4504373,NP_000512
3074	123081	Disease	p.Pro405Leu	606873.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, ADULT TYPE	OMIM	278	cd02742	4504373,NP_000512
3074	123081	Disease	p.Ala543Thr	606873.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	HEXOSAMINIDASE B, HEAT-LABILE POLYMORPHISM	OMIM	No Domain	N/A	4504373,NP_000512
3074	123081	Disease	p.Ser62Leu	606873.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, INFANTILE TYPE	OMIM	No Domain	N/A	4504373,NP_000512
3074	123081	Disease	p.Pro504Ser	606873.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, CHRONIC	OMIM	578	pfam00728	4504373,NP_000512
3074	123081	Disease	p.Pro504Ser	606873.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, CHRONIC	OMIM	561	cd06563	4504373,NP_000512
3074	123081	Disease	p.Pro504Ser	606873.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, CHRONIC	OMIM	435	cd06570	4504373,NP_000512
3074	123081	Disease	p.Pro504Ser	606873.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, CHRONIC	OMIM	384	cd06568	4504373,NP_000512
3074	123081	Disease	p.Pro504Ser	606873.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, CHRONIC	OMIM	407	cd06562	4504373,NP_000512
3074	123081	Disease	p.Pro504Ser	606873.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, CHRONIC	OMIM	495	cd06564	4504373,NP_000512
3074	123081	Disease	p.Pro504Ser	606873.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, CHRONIC	OMIM	507	cd06569	4504373,NP_000512
3074	123081	Disease	p.Pro504Ser	606873.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, CHRONIC	OMIM	388	cd06565	4504373,NP_000512
3074	123081	Disease	p.Pro504Ser	606873.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606873	SANDHOFF DISEASE, CHRONIC	OMIM	554	cd02742	4504373,NP_000512
3073	311033393	Disease	p.Glu482Lys	606869.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	514	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Glu482Lys	606869.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	395	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Glu482Lys	606869.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	561	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Glu482Lys	606869.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	502	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Glu482Lys	606869.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	585	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Glu482Lys	606869.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	442	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Glu482Lys	606869.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	391	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Glu482Lys	606869.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	568	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Glu482Lys	606869.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	414	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Arg178His	606869.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT||HEXA, DN ALLELE	OMIM	16	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Arg178His	606869.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT||HEXA, DN ALLELE	OMIM	10	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Arg178His	606869.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT||HEXA, DN ALLELE	OMIM	10	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Arg178His	606869.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT||HEXA, DN ALLELE	OMIM	11	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Arg178His	606869.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT||HEXA, DN ALLELE	OMIM	12	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Arg178His	606869.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT||HEXA, DN ALLELE	OMIM	12	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Arg178His	606869.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT||HEXA, DN ALLELE	OMIM	12	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Arg178His	606869.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT||HEXA, DN ALLELE	OMIM	12	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Arg178His	606869.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT||HEXA, DN ALLELE	OMIM	12	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Arg178Cys	606869.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT||HEXA, CZECHOSLOVAKIAN ALLELE	OMIM	16	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Arg178Cys	606869.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT||HEXA, CZECHOSLOVAKIAN ALLELE	OMIM	10	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Arg178Cys	606869.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT||HEXA, CZECHOSLOVAKIAN ALLELE	OMIM	10	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Arg178Cys	606869.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT||HEXA, CZECHOSLOVAKIAN ALLELE	OMIM	11	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Arg178Cys	606869.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT||HEXA, CZECHOSLOVAKIAN ALLELE	OMIM	12	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Arg178Cys	606869.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT||HEXA, CZECHOSLOVAKIAN ALLELE	OMIM	12	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Arg178Cys	606869.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT||HEXA, CZECHOSLOVAKIAN ALLELE	OMIM	12	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Arg178Cys	606869.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT||HEXA, CZECHOSLOVAKIAN ALLELE	OMIM	12	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Arg178Cys	606869.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT||HEXA, CZECHOSLOVAKIAN ALLELE	OMIM	12	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Gly269Ser	606869.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, ADULT	OMIM	180	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Gly269Ser	606869.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, ADULT	OMIM	99	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Gly269Ser	606869.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, ADULT	OMIM	121	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Gly269Ser	606869.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, ADULT	OMIM	208	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Gly269Ser	606869.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, ADULT	OMIM	172	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Gly269Ser	606869.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, ADULT	OMIM	100	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Gly269Ser	606869.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, ADULT	OMIM	126	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Gly269Ser	606869.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, ADULT	OMIM	138	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Gly269Ser	606869.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, ADULT	OMIM	103	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Arg504His	606869.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, JUVENILE	OMIM	450	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Arg499His	606869.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, JUVENILE	OMIM	576	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Arg499His	606869.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, JUVENILE	OMIM	459	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Arg499His	606869.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, JUVENILE	OMIM	413	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Arg499His	606869.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, JUVENILE	OMIM	609	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Arg499His	606869.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, JUVENILE	OMIM	445	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Arg170Gln	606869.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	8	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Arg170Gln	606869.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	2	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Arg170Gln	606869.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	2	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Arg170Gln	606869.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	3	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Arg170Gln	606869.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	4	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Arg170Gln	606869.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	4	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Arg170Gln	606869.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	4	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Arg170Gln	606869.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	4	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Arg170Gln	606869.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	4	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Trp420Cys	606869.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	407	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Trp420Cys	606869.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	318	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Trp420Cys	606869.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	356	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Trp420Cys	606869.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	412	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Trp420Cys	606869.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	454	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Trp420Cys	606869.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	254	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Trp420Cys	606869.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	302	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Trp420Cys	606869.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	362	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Trp420Cys	606869.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	316	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Gly250Asp	606869.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, JUVENILE	OMIM	144	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Gly250Asp	606869.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, JUVENILE	OMIM	76	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Gly250Asp	606869.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, JUVENILE	OMIM	102	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Gly250Asp	606869.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, JUVENILE	OMIM	189	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Gly250Asp	606869.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, JUVENILE	OMIM	153	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Gly250Asp	606869.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, JUVENILE	OMIM	81	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Gly250Asp	606869.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, JUVENILE	OMIM	107	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Gly250Asp	606869.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, JUVENILE	OMIM	119	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Gly250Asp	606869.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, JUVENILE	OMIM	84	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Arg504Cys	606869.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, CHRONIC	OMIM	450	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Ser210Phe	606869.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	55	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Ser210Phe	606869.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	40_G	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Ser210Phe	606869.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	43	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Ser210Phe	606869.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	45	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Ser210Phe	606869.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	52	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Ser210Phe	606869.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	44	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Ser210Phe	606869.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	44	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Ser210Phe	606869.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	44	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Ser210Phe	606869.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	44	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Arg178Leu	606869.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	16	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Arg178Leu	606869.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	10	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Arg178Leu	606869.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	10	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Arg178Leu	606869.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	11	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Arg178Leu	606869.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	12	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Arg178Leu	606869.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	12	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Arg178Leu	606869.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	12	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Arg178Leu	606869.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	12	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Arg178Leu	606869.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	12	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Met1Val	606869.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	No Domain	N/A	189181666,NP_000511
3073	311033393	Disease	p.Arg499Cys	606869.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, ADULT-ONSET	OMIM	576	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Arg499Cys	606869.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, ADULT-ONSET	OMIM	459	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Arg499Cys	606869.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, ADULT-ONSET	OMIM	413	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Arg499Cys	606869.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, ADULT-ONSET	OMIM	609	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Arg499Cys	606869.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, ADULT-ONSET	OMIM	445	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Trp485Arg	606869.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	517	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Trp485Arg	606869.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	398	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Trp485Arg	606869.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	564	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Trp485Arg	606869.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	505	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Trp485Arg	606869.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	588	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Trp485Arg	606869.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	445	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Trp485Arg	606869.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	394	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Trp485Arg	606869.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	571	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Trp485Arg	606869.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	417	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Arg247Trp	606869.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF	OMIM	141	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Arg247Trp	606869.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF	OMIM	73	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Arg247Trp	606869.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF	OMIM	99	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Arg247Trp	606869.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF	OMIM	186	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Arg247Trp	606869.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF	OMIM	150	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Arg247Trp	606869.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF	OMIM	78	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Arg247Trp	606869.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF	OMIM	104	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Arg247Trp	606869.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF	OMIM	116	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Arg247Trp	606869.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF	OMIM	81	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Val192Leu	606869.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT	OMIM	30	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Val192Leu	606869.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT	OMIM	25	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Val192Leu	606869.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT	OMIM	25	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Val192Leu	606869.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT	OMIM	25	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Val192Leu	606869.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT	OMIM	27	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Val192Leu	606869.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT	OMIM	26	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Val192Leu	606869.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT	OMIM	26	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Val192Leu	606869.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT	OMIM	26	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Val192Leu	606869.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT	OMIM	26	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Asp258His	606869.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT	OMIM	152	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Asp258His	606869.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT	OMIM	84	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Asp258His	606869.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT	OMIM	110	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Asp258His	606869.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT	OMIM	197	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Asp258His	606869.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT	OMIM	161	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Asp258His	606869.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT	OMIM	89	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Asp258His	606869.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT	OMIM	115	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Asp258His	606869.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT	OMIM	127	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Asp258His	606869.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE, B1 VARIANT	OMIM	92	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Arg170Trp	606869.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	8	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Arg170Trp	606869.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	2	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Arg170Trp	606869.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	2	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Arg170Trp	606869.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	3	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Arg170Trp	606869.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	4	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Arg170Trp	606869.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	4	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Arg170Trp	606869.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	4	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Arg170Trp	606869.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	4	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Arg170Trp	606869.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	4	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Lys197Thr	606869.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, LATE ONSET	OMIM	35	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Lys197Thr	606869.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, LATE ONSET	OMIM	30	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Lys197Thr	606869.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, LATE ONSET	OMIM	30	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Lys197Thr	606869.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, LATE ONSET	OMIM	30	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Lys197Thr	606869.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, LATE ONSET	OMIM	32	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Lys197Thr	606869.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, LATE ONSET	OMIM	31	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Lys197Thr	606869.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, LATE ONSET	OMIM	31	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Lys197Thr	606869.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, LATE ONSET	OMIM	31	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Lys197Thr	606869.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, LATE ONSET	OMIM	31	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Phe211Ser	606869.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	56	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Phe211Ser	606869.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	40_G	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Phe211Ser	606869.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	44	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Phe211Ser	606869.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	46	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Phe211Ser	606869.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	53	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Phe211Ser	606869.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	45	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Phe211Ser	606869.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	45	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Phe211Ser	606869.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	45	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Phe211Ser	606869.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	45	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Leu127Arg	606869.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	104	pfam02838	189181666,NP_000511
3073	311033393	Disease	p.His204Arg	606869.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	42	cd06569	189181666,NP_000511
3073	311033393	Disease	p.His204Arg	606869.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	37	cd06565	189181666,NP_000511
3073	311033393	Disease	p.His204Arg	606869.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	37	cd02742	189181666,NP_000511
3073	311033393	Disease	p.His204Arg	606869.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	37	cd06564	189181666,NP_000511
3073	311033393	Disease	p.His204Arg	606869.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	39	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.His204Arg	606869.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	38	cd06570	189181666,NP_000511
3073	311033393	Disease	p.His204Arg	606869.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	38	cd06568	189181666,NP_000511
3073	311033393	Disease	p.His204Arg	606869.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	38	cd06563	189181666,NP_000511
3073	311033393	Disease	p.His204Arg	606869.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	38	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Met301Arg	606869.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	217	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Met301Arg	606869.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	136	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Met301Arg	606869.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	175	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Met301Arg	606869.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	253	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Met301Arg	606869.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	226	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Met301Arg	606869.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	137	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Met301Arg	606869.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	170	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Met301Arg	606869.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	192	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Met301Arg	606869.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	146	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Gly454Ser	606869.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	485	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Gly454Ser	606869.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	354	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Gly454Ser	606869.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	529	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Gly454Ser	606869.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	466	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Gly454Ser	606869.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	550	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Gly454Ser	606869.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	414	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Gly454Ser	606869.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	362	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Gly454Ser	606869.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	538	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Gly454Ser	606869.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	386	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Leu39Arg	606869.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	5	pfam02838	189181666,NP_000511
3073	311033393	Disease	p.Gly805Ala	606869.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, LATE ONSET	OMIM	No Domain	N/A	189181666,NP_000511
3073	311033393	Disease	p.Tyr180His	606869.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, LATE ONSET	OMIM	18	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Tyr180His	606869.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, LATE ONSET	OMIM	13	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Tyr180His	606869.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, LATE ONSET	OMIM	13	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Tyr180His	606869.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, LATE ONSET	OMIM	13	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Tyr180His	606869.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, LATE ONSET	OMIM	15	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Tyr180His	606869.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, LATE ONSET	OMIM	14	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Tyr180His	606869.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, LATE ONSET	OMIM	14	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Tyr180His	606869.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, LATE ONSET	OMIM	14	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Tyr180His	606869.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, LATE ONSET	OMIM	14	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Trp474Cys	606869.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, SUBACUTE	OMIM	506	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Trp474Cys	606869.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, SUBACUTE	OMIM	387	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Trp474Cys	606869.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, SUBACUTE	OMIM	553	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Trp474Cys	606869.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, SUBACUTE	OMIM	494	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Trp474Cys	606869.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, SUBACUTE	OMIM	577	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Trp474Cys	606869.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, SUBACUTE	OMIM	434	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Trp474Cys	606869.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, SUBACUTE	OMIM	383	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Trp474Cys	606869.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, SUBACUTE	OMIM	560	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Trp474Cys	606869.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, SUBACUTE	OMIM	406	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Leu451Val	606869.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	482	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Leu451Val	606869.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	351	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Leu451Val	606869.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	526	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Leu451Val	606869.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	463	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Leu451Val	606869.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	547	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Leu451Val	606869.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	411	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Leu451Val	606869.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	359	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Leu451Val	606869.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	535	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Leu451Val	606869.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	TAY-SACHS DISEASE	OMIM	383	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Val324Val	606869.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, SUBACUTE	OMIM	246	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Val324Val	606869.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, SUBACUTE	OMIM	178	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Val324Val	606869.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, SUBACUTE	OMIM	203	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Val324Val	606869.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, SUBACUTE	OMIM	285	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Val324Val	606869.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, SUBACUTE	OMIM	255	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Val324Val	606869.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, SUBACUTE	OMIM	160	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Val324Val	606869.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, SUBACUTE	OMIM	193	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Val324Val	606869.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, SUBACUTE	OMIM	220	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Val324Val	606869.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869	GM2-GANGLIOSIDOSIS, SUBACUTE	OMIM	187	cd06562	189181666,NP_000511
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	321	cd02049	NULL
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	292	cd02053	NULL
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	318	cd02045	NULL
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	347	cd02058	NULL
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	353	cd02059	NULL
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	325	cd02044	NULL
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	310	cd02057	NULL
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	315	cd02052	NULL
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	382	cd02047	NULL
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	311	cd02048	NULL
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	360	cd02051	NULL
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	312	cd02056	NULL
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	300	cd02050	NULL
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	653	cd00172	NULL
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	360	COG4826	NULL
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	521	smart00093	NULL
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	740	pfam00079	NULL
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	304	cd02055	NULL
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	323	cd02054	NULL
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	344	cd02043	NULL
710	73858568	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	307	cd02046	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	321	cd02049	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	292	cd02053	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	318	cd02045	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	347	cd02058	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	353	cd02059	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	325	cd02044	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	310	cd02057	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	315	cd02052	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	382	cd02047	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	311	cd02048	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	360	cd02051	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	312	cd02056	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	300	cd02050	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	653	cd00172	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	360	COG4826	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	521	smart00093	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	740	pfam00079	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	304	cd02055	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	323	cd02054	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	344	cd02043	NULL
710	73858570	Disease	p.Ala436Thr	606860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	307	cd02046	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	329	cd02049	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	300	cd02053	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	326	cd02045	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	355	cd02058	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	361	cd02059	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	333	cd02044	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	318	cd02057	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	323	cd02052	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	390	cd02047	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	319	cd02048	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	368	cd02051	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	320	cd02056	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	308	cd02050	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	661	cd00172	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	368	COG4826	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	529	smart00093	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	748	pfam00079	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	312	cd02055	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	331	cd02054	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	352	cd02043	NULL
710	73858568	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	315	cd02046	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	329	cd02049	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	300	cd02053	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	326	cd02045	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	355	cd02058	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	361	cd02059	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	333	cd02044	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	318	cd02057	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	323	cd02052	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	390	cd02047	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	319	cd02048	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	368	cd02051	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	320	cd02056	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	308	cd02050	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	661	cd00172	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	368	COG4826	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	529	smart00093	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	748	pfam00079	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	312	cd02055	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	331	cd02054	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	352	cd02043	NULL
710	73858570	Disease	p.Arg444His	606860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	315	cd02046	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	329	cd02049	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	300	cd02053	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	326	cd02045	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	355	cd02058	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	361	cd02059	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	333	cd02044	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	318	cd02057	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	323	cd02052	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	390	cd02047	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	319	cd02048	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	368	cd02051	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	320	cd02056	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	308	cd02050	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	661	cd00172	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	368	COG4826	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	529	smart00093	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	748	pfam00079	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	312	cd02055	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	331	cd02054	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	352	cd02043	NULL
710	73858568	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	315	cd02046	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	329	cd02049	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	300	cd02053	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	326	cd02045	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	355	cd02058	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	361	cd02059	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	333	cd02044	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	318	cd02057	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	323	cd02052	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	390	cd02047	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	319	cd02048	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	368	cd02051	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	320	cd02056	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	308	cd02050	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	661	cd00172	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	368	COG4826	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	529	smart00093	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	748	pfam00079	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	312	cd02055	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	331	cd02054	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	352	cd02043	NULL
710	73858570	Disease	p.Arg444Cys	606860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	315	cd02046	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	329	cd02049	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	300	cd02053	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	326	cd02045	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	355	cd02058	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	361	cd02059	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	333	cd02044	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	318	cd02057	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	323	cd02052	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	390	cd02047	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	319	cd02048	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	368	cd02051	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	320	cd02056	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	308	cd02050	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	661	cd00172	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	368	COG4826	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	529	smart00093	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	748	pfam00079	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	312	cd02055	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	331	cd02054	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	352	cd02043	NULL
710	73858568	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	315	cd02046	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	329	cd02049	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	300	cd02053	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	326	cd02045	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	355	cd02058	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	361	cd02059	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	333	cd02044	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	318	cd02057	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	323	cd02052	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	390	cd02047	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	319	cd02048	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	368	cd02051	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	320	cd02056	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	308	cd02050	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	661	cd00172	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	368	COG4826	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	529	smart00093	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	748	pfam00079	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	312	cd02055	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	331	cd02054	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	352	cd02043	NULL
710	73858570	Disease	p.Arg444Ser	606860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	315	cd02046	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	318	cd02049	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	289	cd02053	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	314	cd02045	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	343	cd02058	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	349	cd02059	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	321	cd02044	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	306	cd02057	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	312	cd02052	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	379	cd02047	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	307	cd02048	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	356	cd02051	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	308	cd02056	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	296	cd02050	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	649	cd00172	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	356	COG4826	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	515	smart00093	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	708	pfam00079	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	300	cd02055	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	319	cd02054	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	340	cd02043	NULL
710	73858568	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	303	cd02046	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	318	cd02049	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	289	cd02053	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	314	cd02045	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	343	cd02058	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	349	cd02059	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	321	cd02044	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	306	cd02057	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	312	cd02052	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	379	cd02047	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	307	cd02048	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	356	cd02051	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	308	cd02056	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	296	cd02050	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	649	cd00172	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	356	COG4826	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	515	smart00093	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	708	pfam00079	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	300	cd02055	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	319	cd02054	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	340	cd02043	NULL
710	73858570	Disease	p.Val432Glu	606860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	ANGIOEDEMA, HEREDITARY, TYPE II	OMIM	303	cd02046	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	328	cd02049	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	299	cd02053	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	325	cd02045	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	354	cd02058	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	360	cd02059	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	332	cd02044	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	317	cd02057	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	322	cd02052	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	389	cd02047	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	318	cd02048	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	367	cd02051	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	319	cd02056	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	307	cd02050	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	660	cd00172	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	367	COG4826	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	528	smart00093	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	747	pfam00079	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	311	cd02055	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	330	cd02054	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	351	cd02043	NULL
710	73858568	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	314	cd02046	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	328	cd02049	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	299	cd02053	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	325	cd02045	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	354	cd02058	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	360	cd02059	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	332	cd02044	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	317	cd02057	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	322	cd02052	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	389	cd02047	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	318	cd02048	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	367	cd02051	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	319	cd02056	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	307	cd02050	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	660	cd00172	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	367	COG4826	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	528	smart00093	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	747	pfam00079	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	311	cd02055	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	330	cd02054	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	351	cd02043	NULL
710	73858570	Disease	p.Ala443Val	606860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606860	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR	OMIM	314	cd02046	NULL
2729	1346190	Disease	p.His370Leu	606857.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606857	GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	157	pfam03074	4557625,NP_001489
2729	308199423	Disease	p.His370Leu	606857.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606857	GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	195	pfam03074	NULL
6949	207113164	Disease	p.Tyr50Cys	606847.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606847	TREACHER COLLINS SYNDROME	OMIM	No Domain	N/A	NULL
6949	207113162	Disease	p.Tyr50Cys	606847.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606847	TREACHER COLLINS SYNDROME	OMIM	No Domain	N/A	NULL
6949	57164979	Disease	p.Tyr50Cys	606847.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606847	TREACHER COLLINS SYNDROME	OMIM	No Domain	N/A	NULL
6949	302393806	Disease	p.Tyr50Cys	606847.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606847	TREACHER COLLINS SYNDROME	OMIM	No Domain	N/A	207113160,NP_001128715
6949	304376301	Disease	p.Tyr50Cys	606847.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606847	TREACHER COLLINS SYNDROME	OMIM	No Domain	N/A	NULL
6949	57164975	Disease	p.Tyr50Cys	606847.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606847	TREACHER COLLINS SYNDROME	OMIM	No Domain	N/A	NULL
2395	239787198	Disease	p.Ile154Phe	606829.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	92	pfam01491	NULL
2395	239787198	Disease	p.Ile154Phe	606829.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	63	COG1965	NULL
2395	239787198	Disease	p.Ile154Phe	606829.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	65	cd00503	NULL
2395	6166193	Disease	p.Ile154Phe	606829.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	65	cd00503	31077081,NP_000135
2395	6166193	Disease	p.Ile154Phe	606829.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	63	COG1965	31077081,NP_000135
2395	6166193	Disease	p.Ile154Phe	606829.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	92	pfam01491	31077081,NP_000135
2395	31742516	Disease	p.Ile154Phe	606829.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	65	cd00503	NULL
2395	31742516	Disease	p.Ile154Phe	606829.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	63	COG1965	NULL
2395	31742516	Disease	p.Ile154Phe	606829.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	92	pfam01491	NULL
2395	239787198	Disease	p.Gly130Val	606829.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	65	pfam01491	NULL
2395	239787198	Disease	p.Gly130Val	606829.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	40	COG1965	NULL
2395	239787198	Disease	p.Gly130Val	606829.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	41	cd00503	NULL
2395	6166193	Disease	p.Gly130Val	606829.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	41	cd00503	31077081,NP_000135
2395	6166193	Disease	p.Gly130Val	606829.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	40	COG1965	31077081,NP_000135
2395	6166193	Disease	p.Gly130Val	606829.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	65	pfam01491	31077081,NP_000135
2395	31742516	Disease	p.Gly130Val	606829.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	41	cd00503	NULL
2395	31742516	Disease	p.Gly130Val	606829.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	40	COG1965	NULL
2395	31742516	Disease	p.Gly130Val	606829.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	65	pfam01491	NULL
2395	239787198	Disease	p.Met1Ile	606829.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	No Domain	N/A	NULL
2395	6166193	Disease	p.Met1Ile	606829.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	No Domain	N/A	31077081,NP_000135
2395	31742516	Disease	p.Met1Ile	606829.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	No Domain	N/A	NULL
2395	239787198	Disease	p.Trp173Gly	606829.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	No Domain	N/A	NULL
2395	6166193	Disease	p.Trp173Gly	606829.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	91	cd00503	31077081,NP_000135
2395	6166193	Disease	p.Trp173Gly	606829.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	84	COG1965	31077081,NP_000135
2395	6166193	Disease	p.Trp173Gly	606829.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	143	pfam01491	31077081,NP_000135
2395	31742516	Disease	p.Trp173Gly	606829.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	88	cd00503	NULL
2395	31742516	Disease	p.Trp173Gly	606829.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	90	COG1965	NULL
2395	31742516	Disease	p.Trp173Gly	606829.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606829	FRIEDREICH ATAXIA	OMIM	152	pfam01491	NULL
55624	210147552	Disease	p.Ser550Asn	606822.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606822	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3	OMIM	365	pfam03071	NULL
55624	210147552	Disease	p.Ser550Asn	606822.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606822	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3	OMIM	277	cd02514	NULL
55624	210147552	Disease	p.Pro493Arg	606822.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606822	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3	OMIM	305	pfam03071	NULL
55624	210147552	Disease	p.Pro493Arg	606822.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606822	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3	OMIM	215	cd02514	NULL
55624	210147552	Disease	p.Arg442Cys	606822.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606822	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3	OMIM	259	pfam03071	NULL
55624	210147552	Disease	p.Arg442Cys	606822.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606822	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3	OMIM	164	cd02514	NULL
55624	210147552	Disease	p.Arg311Gln	606822.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606822	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3	OMIM	108	pfam03071	NULL
55624	210147552	Disease	p.Arg311Gln	606822.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606822	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3	OMIM	11	cd02514	NULL
55624	210147552	Disease	p.Asp556Asn	606822.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606822	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3	OMIM	371	pfam03071	NULL
55624	210147552	Disease	p.Asp556Asn	606822.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606822	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3	OMIM	283	cd02514	NULL
55624	210147552	Disease	p.Arg605Pro	606822.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606822	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3	OMIM	418	pfam03071	NULL
55624	210147552	Disease	p.Arg605Pro	606822.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606822	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3	OMIM	335	cd02514	NULL
55624	210147552	Disease	p.Cys490Tyr	606822.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606822	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3	OMIM	302	pfam03071	NULL
55624	210147552	Disease	p.Cys490Tyr	606822.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606822	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3	OMIM	212	cd02514	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	326	cd07120	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	343	cd07088	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	327	cd07115	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	325	cd07107	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	338	cd07093	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	365	cd07086	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	354	cd07130	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	355	cd07139	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	319	cd07100	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	339	cd07084	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	338	cd07145	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	326	cd07108	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	327	cd07118	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	331	cd07112	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	346	cd07119	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	352_G	cd07138	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	329	cd07148	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	324	cd07101	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	332	cd07099	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	334	cd07094	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	333	cd07110	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	351	cd07102	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	470	COG4230	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	477	cd07125	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	399	cd07123	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	370	cd07083	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	354	cd07140	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	343_G	cd07135	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	350	cd07142	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	350	cd07113	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	347	cd07126	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	328	cd07114	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	342	cd07106	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	328	cd07092	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	320	cd07152	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	344	cd07103	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	351	cd07089	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	332	cd07090	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	329	cd07109	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	308	cd07134	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	333_G	cd07146	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	402	cd07124	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	372	cd07082	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	354	cd07143	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	312	cd07095	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	312_G	cd07104	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	317	cd07105	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	386	cd06534	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	312	cd07133	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	442	pfam00171	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	345	cd07097	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	339_G	cd07151	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	353	cd07141	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	362	cd07091	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	337	cd07147	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	346	cd07559	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	457	COG1012	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	345	cd07116	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	346_G	cd07085	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	349	cd07098	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	329	cd07150	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	361	cd07078	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	336_G	cd07087	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	357	cd07144	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	341	cd07117	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	329	cd07149	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	351	cd07131	NULL
8659	238859541	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	356	cd07111	NULL
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	291	cd07130	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	297	cd07086	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	342	cd07124	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	335	cd07123	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	311	cd07082	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	281	cd07088	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	294	cd07144	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	282	cd07117	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	272	cd07084	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	258	cd07100	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	274	cd07147	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	287	cd07559	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	409	COG4230	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	278	cd07103	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	292	cd07089	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	261	cd07152	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	268	cd07092	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	272	cd07090	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	268	cd07109	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	297	cd07111	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	263	cd07101	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	271	cd07099	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	275	cd07094	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	270	cd07148	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	290	cd07102	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	268	cd07118	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	273	cd07112	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	287	cd07119	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	293	cd07138	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	275	cd07110	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	279	cd07145	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	266	cd07108	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	286	cd07097	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	365	pfam00171	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	265	cd07120	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	302	cd07091	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	294	cd07141	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	281	cd07151	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	295	cd07143	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	292	cd07078	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	271	cd07087	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	247	cd07134	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	291	cd07142	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	291	cd07113	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	270	cd07149	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	287	cd07131	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	311	cd06534	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	254	cd07133	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	267	cd07114	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	277	cd07106	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	273	cd07146	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	376	COG1012	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	287	cd07116	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	290	cd07085	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	284	cd07098	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	270	cd07150	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	295	cd07140	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	276	cd07135	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	310	cd07083	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	416	cd07125	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	279	cd07093	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	268	cd07115	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	265	cd07107	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	293	cd07126	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	254	cd07104	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	252	cd07105	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	250	cd07095	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	296	cd07139	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	291	cd07130	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	297	cd07086	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	342	cd07124	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	335	cd07123	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	311	cd07082	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	281	cd07088	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	294	cd07144	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	282	cd07117	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	272	cd07084	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	258	cd07100	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	274	cd07147	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	287	cd07559	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	409	COG4230	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	278	cd07103	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	292	cd07089	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	261	cd07152	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	268	cd07092	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	272	cd07090	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	268	cd07109	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	297	cd07111	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	263	cd07101	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	271	cd07099	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	275	cd07094	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	270	cd07148	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	290	cd07102	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	268	cd07118	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	273	cd07112	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	287	cd07119	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	293	cd07138	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	275	cd07110	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	279	cd07145	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	266	cd07108	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	286	cd07097	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	365	pfam00171	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	265	cd07120	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	302	cd07091	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	294	cd07141	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	281	cd07151	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	295	cd07143	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	292	cd07078	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	271	cd07087	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	247	cd07134	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	291	cd07142	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	291	cd07113	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	270	cd07149	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	287	cd07131	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	311	cd06534	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	254	cd07133	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	267	cd07114	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	277	cd07106	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	273	cd07146	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	376	COG1012	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	287	cd07116	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	290	cd07085	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	284	cd07098	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	270	cd07150	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	295	cd07140	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	276	cd07135	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	310	cd07083	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	416	cd07125	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	279	cd07093	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	268	cd07115	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	265	cd07107	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	293	cd07126	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	254	cd07104	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	252	cd07105	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	250	cd07095	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	606811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606811	HYPERPROLINEMIA, TYPE II	OMIM	296	cd07139	25777736,NP_733844|25777734,NP_003739
5625	304766647	Disease	p.Arg453Cys	606810.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606810	HYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4	OMIM	392	pfam01619	NULL
5625	304766736	Disease	p.Arg453Cys	606810.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606810	HYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4	OMIM	267	pfam01619	NULL
5625	304766647	Disease	p.Leu289Met	606810.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606810	HYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4	OMIM	205	pfam01619	NULL
5625	304766736	Disease	p.Leu289Met	606810.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606810	HYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4	OMIM	70	pfam01619	NULL
5625	304766647	Disease	p.Leu441Pro	606810.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606810	HYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4	OMIM	377	pfam01619	NULL
5625	304766736	Disease	p.Leu441Pro	606810.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606810	HYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4	OMIM	255	pfam01619	NULL
5625	304766647	Disease	p.Ala455Ser	606810.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606810	HYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4	OMIM	394	pfam01619	NULL
5625	304766736	Disease	p.Ala455Ser	606810.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606810	HYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4	OMIM	269	pfam01619	NULL
5625	304766647	Disease	p.Gln521Arg	606810.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606810	HYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4	OMIM	No Domain	N/A	NULL
5625	304766736	Disease	p.Gln521Arg	606810.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606810	HYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4	OMIM	343	pfam01619	NULL
5625	304766647	Disease	p.Arg431His	606810.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606810	HYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4	OMIM	361	pfam01619	NULL
5625	304766736	Disease	p.Arg431His	606810.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606810	HYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4	OMIM	241	pfam01619	NULL
5625	304766647	Disease	p.Gln521Glu	606810.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606810	HYPERPROLINEMIA, TYPE I	OMIM	No Domain	N/A	NULL
5625	304766736	Disease	p.Gln521Glu	606810.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606810	HYPERPROLINEMIA, TYPE I	OMIM	343	pfam01619	NULL
5625	304766647	Disease	p.Thr466Met	606810.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606810	HYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4	OMIM	405	pfam01619	NULL
5625	304766736	Disease	p.Thr466Met	606810.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606810	HYPERPROLINEMIA, TYPE I||SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4	OMIM	280	pfam01619	NULL
10841	8134464	Disease	p.Arg135Cys	606806.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606806	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	OMIM	135	COG3643	11140815,NP_006648|46255035,NP_996848
10841	8134464	Disease	p.Arg135Cys	606806.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606806	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	OMIM	146	pfam07837	11140815,NP_006648|46255035,NP_996848
10841	8134464	Disease	p.Arg135Cys	606806.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606806	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	OMIM	135	COG3643	11140815,NP_006648|46255035,NP_996848
10841	8134464	Disease	p.Arg135Cys	606806.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606806	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	OMIM	146	pfam07837	11140815,NP_006648|46255035,NP_996848
10841	8134464	Disease	p.Arg299Pro	606806.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606806	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	OMIM	299	COG3643	11140815,NP_006648|46255035,NP_996848
10841	8134464	Disease	p.Arg299Pro	606806.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606806	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	OMIM	124	pfam02971	11140815,NP_006648|46255035,NP_996848
10841	8134464	Disease	p.Arg299Pro	606806.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606806	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	OMIM	299	COG3643	11140815,NP_006648|46255035,NP_996848
10841	8134464	Disease	p.Arg299Pro	606806.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606806	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	OMIM	124	pfam02971	11140815,NP_006648|46255035,NP_996848
2548	119393895	Disease	p.Asp91Asn	606800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 2	OMIM	16	cd00111	NULL
2548	119393895	Disease	p.Asp91Asn	606800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 2	OMIM	16	smart00018	NULL
2548	119393895	Disease	p.Asp91Asn	606800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 2	OMIM	19	pfam00088	NULL
2548	119393893	Disease	p.Asp91Asn	606800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 2	OMIM	16	cd00111	NULL
2548	119393893	Disease	p.Asp91Asn	606800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 2	OMIM	16	smart00018	NULL
2548	119393893	Disease	p.Asp91Asn	606800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 2	OMIM	19	pfam00088	NULL
2548	119393891	Disease	p.Asp91Asn	606800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 2	OMIM	16	cd00111	NULL
2548	119393891	Disease	p.Asp91Asn	606800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 2	OMIM	16	smart00018	NULL
2548	119393891	Disease	p.Asp91Asn	606800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 2	OMIM	19	pfam00088	NULL
2548	119393895	Disease	p.Met318Thr	606800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	345	COG1501	NULL
2548	119393893	Disease	p.Met318Thr	606800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	345	COG1501	NULL
2548	119393891	Disease	p.Met318Thr	606800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	345	COG1501	NULL
2548	119393895	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	345	cd06602	NULL
2548	119393895	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	197	cd06597	NULL
2548	119393895	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	186_G	cd06594	NULL
2548	119393895	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	173	cd06591	NULL
2548	119393895	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	249	cd06589	NULL
2548	119393895	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	165	cd06604	NULL
2548	119393895	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	241	cd06603	NULL
2548	119393895	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	167	cd06600	NULL
2548	119393895	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	263	cd06601	NULL
2548	119393895	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	185	cd06598	NULL
2548	119393895	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	230	cd06599	NULL
2548	119393895	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	261	cd06593	NULL
2548	119393895	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	29	cd06596	NULL
2548	119393895	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	84	cd06595	NULL
2548	119393895	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	716	COG1501	NULL
2548	119393895	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	234	cd06592	NULL
2548	119393895	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	435	pfam01055	NULL
2548	119393893	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	345	cd06602	NULL
2548	119393893	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	197	cd06597	NULL
2548	119393893	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	186_G	cd06594	NULL
2548	119393893	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	173	cd06591	NULL
2548	119393893	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	249	cd06589	NULL
2548	119393893	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	165	cd06604	NULL
2548	119393893	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	241	cd06603	NULL
2548	119393893	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	167	cd06600	NULL
2548	119393893	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	263	cd06601	NULL
2548	119393893	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	185	cd06598	NULL
2548	119393893	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	230	cd06599	NULL
2548	119393893	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	261	cd06593	NULL
2548	119393893	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	29	cd06596	NULL
2548	119393893	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	84	cd06595	NULL
2548	119393893	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	716	COG1501	NULL
2548	119393893	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	234	cd06592	NULL
2548	119393893	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	435	pfam01055	NULL
2548	119393891	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	345	cd06602	NULL
2548	119393891	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	197	cd06597	NULL
2548	119393891	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	186_G	cd06594	NULL
2548	119393891	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	173	cd06591	NULL
2548	119393891	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	249	cd06589	NULL
2548	119393891	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	165	cd06604	NULL
2548	119393891	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	241	cd06603	NULL
2548	119393891	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	167	cd06600	NULL
2548	119393891	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	263	cd06601	NULL
2548	119393891	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	185	cd06598	NULL
2548	119393891	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	230	cd06599	NULL
2548	119393891	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	261	cd06593	NULL
2548	119393891	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	29	cd06596	NULL
2548	119393891	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	84	cd06595	NULL
2548	119393891	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	716	COG1501	NULL
2548	119393891	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	234	cd06592	NULL
2548	119393891	Disease	p.Glu521Lys	606800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	435	pfam01055	NULL
2548	119393895	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	672	cd06602	NULL
2548	119393895	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	287	cd06597	NULL
2548	119393895	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	308	cd06594	NULL
2548	119393895	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	289	cd06591	NULL
2548	119393895	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	390	cd06589	NULL
2548	119393895	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	312	cd06604	NULL
2548	119393895	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	420	cd06603	NULL
2548	119393895	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	291	cd06600	NULL
2548	119393895	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	383	cd06601	NULL
2548	119393895	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	288	cd06598	NULL
2548	119393895	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	349	cd06599	NULL
2548	119393895	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	338	cd06593	NULL
2548	119393895	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	246	cd06596	NULL
2548	119393895	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	255	cd06595	NULL
2548	119393895	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	918	COG1501	NULL
2548	119393895	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	332	cd06592	NULL
2548	119393895	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	702	pfam01055	NULL
2548	119393893	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	672	cd06602	NULL
2548	119393893	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	287	cd06597	NULL
2548	119393893	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	308	cd06594	NULL
2548	119393893	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	289	cd06591	NULL
2548	119393893	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	390	cd06589	NULL
2548	119393893	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	312	cd06604	NULL
2548	119393893	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	420	cd06603	NULL
2548	119393893	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	291	cd06600	NULL
2548	119393893	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	383	cd06601	NULL
2548	119393893	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	288	cd06598	NULL
2548	119393893	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	349	cd06599	NULL
2548	119393893	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	338	cd06593	NULL
2548	119393893	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	246	cd06596	NULL
2548	119393893	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	255	cd06595	NULL
2548	119393893	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	918	COG1501	NULL
2548	119393893	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	332	cd06592	NULL
2548	119393893	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	702	pfam01055	NULL
2548	119393891	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	672	cd06602	NULL
2548	119393891	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	287	cd06597	NULL
2548	119393891	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	308	cd06594	NULL
2548	119393891	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	289	cd06591	NULL
2548	119393891	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	390	cd06589	NULL
2548	119393891	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	312	cd06604	NULL
2548	119393891	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	420	cd06603	NULL
2548	119393891	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	291	cd06600	NULL
2548	119393891	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	383	cd06601	NULL
2548	119393891	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	288	cd06598	NULL
2548	119393891	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	349	cd06599	NULL
2548	119393891	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	338	cd06593	NULL
2548	119393891	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	246	cd06596	NULL
2548	119393891	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	255	cd06595	NULL
2548	119393891	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	918	COG1501	NULL
2548	119393891	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	332	cd06592	NULL
2548	119393891	Disease	p.Gly643Arg	606800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	702	pfam01055	NULL
2548	119393895	Disease	p.Arg725Trp	606800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	763	cd06602	NULL
2548	119393895	Disease	p.Arg725Trp	606800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	1035	COG1501	NULL
2548	119393895	Disease	p.Arg725Trp	606800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	835	pfam01055	NULL
2548	119393893	Disease	p.Arg725Trp	606800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	763	cd06602	NULL
2548	119393893	Disease	p.Arg725Trp	606800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	1035	COG1501	NULL
2548	119393893	Disease	p.Arg725Trp	606800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	835	pfam01055	NULL
2548	119393891	Disease	p.Arg725Trp	606800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	763	cd06602	NULL
2548	119393891	Disease	p.Arg725Trp	606800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	1035	COG1501	NULL
2548	119393891	Disease	p.Arg725Trp	606800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	835	pfam01055	NULL
2548	119393895	Disease	p.Leu299Arg	606800.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	324	COG1501	NULL
2548	119393893	Disease	p.Leu299Arg	606800.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	324	COG1501	NULL
2548	119393891	Disease	p.Leu299Arg	606800.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	324	COG1501	NULL
2548	119393895	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	353	cd06602	NULL
2548	119393895	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	202	cd06597	NULL
2548	119393895	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	195	cd06594	NULL
2548	119393895	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	176	cd06591	NULL
2548	119393895	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	257	cd06589	NULL
2548	119393895	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	173	cd06604	NULL
2548	119393895	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	248	cd06603	NULL
2548	119393895	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	175	cd06600	NULL
2548	119393895	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	268	cd06601	NULL
2548	119393895	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	186_G	cd06598	NULL
2548	119393895	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	239_G	cd06599	NULL
2548	119393895	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	265_G	cd06593	NULL
2548	119393895	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	37	cd06596	NULL
2548	119393895	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	92	cd06595	NULL
2548	119393895	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	723	COG1501	NULL
2548	119393895	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	241	cd06592	NULL
2548	119393895	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	443	pfam01055	NULL
2548	119393893	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	353	cd06602	NULL
2548	119393893	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	202	cd06597	NULL
2548	119393893	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	195	cd06594	NULL
2548	119393893	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	176	cd06591	NULL
2548	119393893	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	257	cd06589	NULL
2548	119393893	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	173	cd06604	NULL
2548	119393893	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	248	cd06603	NULL
2548	119393893	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	175	cd06600	NULL
2548	119393893	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	268	cd06601	NULL
2548	119393893	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	186_G	cd06598	NULL
2548	119393893	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	239_G	cd06599	NULL
2548	119393893	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	265_G	cd06593	NULL
2548	119393893	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	37	cd06596	NULL
2548	119393893	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	92	cd06595	NULL
2548	119393893	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	723	COG1501	NULL
2548	119393893	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	241	cd06592	NULL
2548	119393893	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	443	pfam01055	NULL
2548	119393891	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	353	cd06602	NULL
2548	119393891	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	202	cd06597	NULL
2548	119393891	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	195	cd06594	NULL
2548	119393891	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	176	cd06591	NULL
2548	119393891	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	257	cd06589	NULL
2548	119393891	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	173	cd06604	NULL
2548	119393891	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	248	cd06603	NULL
2548	119393891	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	175	cd06600	NULL
2548	119393891	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	268	cd06601	NULL
2548	119393891	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	186_G	cd06598	NULL
2548	119393891	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	239_G	cd06599	NULL
2548	119393891	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	265_G	cd06593	NULL
2548	119393891	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	37	cd06596	NULL
2548	119393891	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	92	cd06595	NULL
2548	119393891	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	723	COG1501	NULL
2548	119393891	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	241	cd06592	NULL
2548	119393891	Disease	p.Ser529Val	606800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	443	pfam01055	NULL
2548	119393895	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	674	cd06602	NULL
2548	119393895	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	289	cd06597	NULL
2548	119393895	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	310	cd06594	NULL
2548	119393895	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	291	cd06591	NULL
2548	119393895	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	392	cd06589	NULL
2548	119393895	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	314	cd06604	NULL
2548	119393895	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	422	cd06603	NULL
2548	119393895	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	293	cd06600	NULL
2548	119393895	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	385	cd06601	NULL
2548	119393895	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	290	cd06598	NULL
2548	119393895	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	351	cd06599	NULL
2548	119393895	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	340	cd06593	NULL
2548	119393895	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	248	cd06596	NULL
2548	119393895	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	257	cd06595	NULL
2548	119393895	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	920	COG1501	NULL
2548	119393895	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	334	cd06592	NULL
2548	119393895	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	704	pfam01055	NULL
2548	119393893	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	674	cd06602	NULL
2548	119393893	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	289	cd06597	NULL
2548	119393893	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	310	cd06594	NULL
2548	119393893	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	291	cd06591	NULL
2548	119393893	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	392	cd06589	NULL
2548	119393893	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	314	cd06604	NULL
2548	119393893	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	422	cd06603	NULL
2548	119393893	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	293	cd06600	NULL
2548	119393893	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	385	cd06601	NULL
2548	119393893	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	290	cd06598	NULL
2548	119393893	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	351	cd06599	NULL
2548	119393893	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	340	cd06593	NULL
2548	119393893	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	248	cd06596	NULL
2548	119393893	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	257	cd06595	NULL
2548	119393893	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	920	COG1501	NULL
2548	119393893	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	334	cd06592	NULL
2548	119393893	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	704	pfam01055	NULL
2548	119393891	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	674	cd06602	NULL
2548	119393891	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	289	cd06597	NULL
2548	119393891	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	310	cd06594	NULL
2548	119393891	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	291	cd06591	NULL
2548	119393891	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	392	cd06589	NULL
2548	119393891	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	314	cd06604	NULL
2548	119393891	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	422	cd06603	NULL
2548	119393891	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	293	cd06600	NULL
2548	119393891	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	385	cd06601	NULL
2548	119393891	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	290	cd06598	NULL
2548	119393891	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	351	cd06599	NULL
2548	119393891	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	340	cd06593	NULL
2548	119393891	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	248	cd06596	NULL
2548	119393891	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	257	cd06595	NULL
2548	119393891	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	920	COG1501	NULL
2548	119393891	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	334	cd06592	NULL
2548	119393891	Disease	p.Asp645Glu	606800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, INFANTILE FORM	OMIM	704	pfam01055	NULL
2548	119393895	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	722	cd06602	NULL
2548	119393895	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	330	cd06597	NULL
2548	119393895	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	363	cd06594	NULL
2548	119393895	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	390	cd06591	NULL
2548	119393895	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	456	cd06589	NULL
2548	119393895	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	369	cd06604	NULL
2548	119393895	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	471	cd06603	NULL
2548	119393895	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	345	cd06600	NULL
2548	119393895	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	449	cd06601	NULL
2548	119393895	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	361	cd06598	NULL
2548	119393895	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	405	cd06599	NULL
2548	119393895	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	390	cd06593	NULL
2548	119393895	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	293	cd06596	NULL
2548	119393895	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	307	cd06595	NULL
2548	119393895	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	999	COG1501	NULL
2548	119393895	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	779	pfam01055	NULL
2548	119393893	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	722	cd06602	NULL
2548	119393893	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	330	cd06597	NULL
2548	119393893	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	363	cd06594	NULL
2548	119393893	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	390	cd06591	NULL
2548	119393893	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	456	cd06589	NULL
2548	119393893	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	369	cd06604	NULL
2548	119393893	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	471	cd06603	NULL
2548	119393893	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	345	cd06600	NULL
2548	119393893	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	449	cd06601	NULL
2548	119393893	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	361	cd06598	NULL
2548	119393893	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	405	cd06599	NULL
2548	119393893	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	390	cd06593	NULL
2548	119393893	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	293	cd06596	NULL
2548	119393893	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	307	cd06595	NULL
2548	119393893	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	999	COG1501	NULL
2548	119393893	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	779	pfam01055	NULL
2548	119393891	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	722	cd06602	NULL
2548	119393891	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	330	cd06597	NULL
2548	119393891	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	363	cd06594	NULL
2548	119393891	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	390	cd06591	NULL
2548	119393891	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	456	cd06589	NULL
2548	119393891	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	369	cd06604	NULL
2548	119393891	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	471	cd06603	NULL
2548	119393891	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	345	cd06600	NULL
2548	119393891	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	449	cd06601	NULL
2548	119393891	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	361	cd06598	NULL
2548	119393891	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	405	cd06599	NULL
2548	119393891	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	390	cd06593	NULL
2548	119393891	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	293	cd06596	NULL
2548	119393891	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	307	cd06595	NULL
2548	119393891	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	999	COG1501	NULL
2548	119393891	Disease	p.Glu689Lys	606800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	ACID ALPHA-GLUCOSIDASE, ALLELE 4	OMIM	779	pfam01055	NULL
2548	119393895	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	369	cd06602	NULL
2548	119393895	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	208	cd06597	NULL
2548	119393895	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	199	cd06594	NULL
2548	119393895	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	195	cd06591	NULL
2548	119393895	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	273	cd06589	NULL
2548	119393895	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	208_G	cd06604	NULL
2548	119393895	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	250_G	cd06603	NULL
2548	119393895	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	191	cd06600	NULL
2548	119393895	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	286	cd06601	NULL
2548	119393895	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	191	cd06598	NULL
2548	119393895	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	250_G	cd06599	NULL
2548	119393895	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	265_G	cd06593	NULL
2548	119393895	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	62	cd06596	NULL
2548	119393895	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	119	cd06595	NULL
2548	119393895	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	804	COG1501	NULL
2548	119393895	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	257	cd06592	NULL
2548	119393895	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	459	pfam01055	NULL
2548	119393893	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	369	cd06602	NULL
2548	119393893	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	208	cd06597	NULL
2548	119393893	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	199	cd06594	NULL
2548	119393893	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	195	cd06591	NULL
2548	119393893	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	273	cd06589	NULL
2548	119393893	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	208_G	cd06604	NULL
2548	119393893	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	250_G	cd06603	NULL
2548	119393893	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	191	cd06600	NULL
2548	119393893	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	286	cd06601	NULL
2548	119393893	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	191	cd06598	NULL
2548	119393893	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	250_G	cd06599	NULL
2548	119393893	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	265_G	cd06593	NULL
2548	119393893	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	62	cd06596	NULL
2548	119393893	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	119	cd06595	NULL
2548	119393893	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	804	COG1501	NULL
2548	119393893	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	257	cd06592	NULL
2548	119393893	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	459	pfam01055	NULL
2548	119393891	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	369	cd06602	NULL
2548	119393891	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	208	cd06597	NULL
2548	119393891	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	199	cd06594	NULL
2548	119393891	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	195	cd06591	NULL
2548	119393891	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	273	cd06589	NULL
2548	119393891	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	208_G	cd06604	NULL
2548	119393891	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	250_G	cd06603	NULL
2548	119393891	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	191	cd06600	NULL
2548	119393891	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	286	cd06601	NULL
2548	119393891	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	191	cd06598	NULL
2548	119393891	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	250_G	cd06599	NULL
2548	119393891	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	265_G	cd06593	NULL
2548	119393891	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	62	cd06596	NULL
2548	119393891	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	119	cd06595	NULL
2548	119393891	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	804	COG1501	NULL
2548	119393891	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	257	cd06592	NULL
2548	119393891	Disease	p.Pro545Leu	606800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	459	pfam01055	NULL
2548	119393895	Disease	p.Ala237Val	606800.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	181	COG1501	NULL
2548	119393893	Disease	p.Ala237Val	606800.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	181	COG1501	NULL
2548	119393891	Disease	p.Ala237Val	606800.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	181	COG1501	NULL
2548	119393895	Disease	p.Gly293Arg	606800.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	310	COG1501	NULL
2548	119393893	Disease	p.Gly293Arg	606800.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	310	COG1501	NULL
2548	119393891	Disease	p.Gly293Arg	606800.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606800	GLYCOGEN STORAGE DISEASE II, ADULT FORM	OMIM	310	COG1501	NULL
6768	13124575	Disease	p.Gly827Arg	606797.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606797	ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE	OMIM	314	pfam00089	11415040,NP_068813
6768	13124575	Disease	p.Gly827Arg	606797.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606797	ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE	OMIM	379	cd00190	11415040,NP_068813
6768	13124575	Disease	p.Gly827Arg	606797.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606797	ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE	OMIM	533	smart00020	11415040,NP_068813
6768	13124575	Disease	p.Met1Ile	606797.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606797	ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	11415040,NP_068813
7066	294862250	Disease	p.Ile447Phe	606765.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	NULL
7066	294862252	Disease	p.Ile447Phe	606765.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	NULL
7066	730982	Disease	p.Ile447Phe	606765.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	4507493,NP_000451
7066	294862250	Disease	p.Tyr453Asp	606765.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	NULL
7066	294862252	Disease	p.Tyr453Asp	606765.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	NULL
7066	730982	Disease	p.Tyr453Asp	606765.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	4507493,NP_000451
7066	294862250	Disease	p.Gly590Ser	606765.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	NULL
7066	294862252	Disease	p.Gly590Ser	606765.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	NULL
7066	730982	Disease	p.Gly590Ser	606765.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	4507493,NP_000451
7066	294862250	Disease	p.Glu799Lys	606765.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	NULL
7066	294862252	Disease	p.Glu799Lys	606765.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	NULL
7066	730982	Disease	p.Glu799Lys	606765.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	4507493,NP_000451
7066	294862250	Disease	p.Arg648Gln	606765.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	NULL
7066	294862252	Disease	p.Arg648Gln	606765.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	NULL
7066	730982	Disease	p.Arg648Gln	606765.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	4507493,NP_000451
7066	294862250	Disease	p.Arg693Trp	606765.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	NULL
7066	294862252	Disease	p.Arg693Trp	606765.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	NULL
7066	730982	Disease	p.Arg693Trp	606765.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	4507493,NP_000451
7066	294862250	Disease	p.Gln660Glu	606765.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	NULL
7066	294862252	Disease	p.Gln660Glu	606765.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	NULL
7066	730982	Disease	p.Gln660Glu	606765.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606765	THYROID DYSHORMONOGENESIS 2A	OMIM	No Domain	N/A	4507493,NP_000451
23417	8928067	Disease	p.Gly3Asp	606761.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606761	MALONYL-CoA DECARBOXYLASE DEFICIENCY	OMIM	No Domain	N/A	110349750,NP_036345
23417	8928067	Disease	p.Met40Thr	606761.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606761	MALONYL-CoA DECARBOXYLASE DEFICIENCY	OMIM	No Domain	N/A	110349750,NP_036345
50506	296434485	Disease	p.Arg376Trp	606759.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606759	THYROID DYSHORMONOGENESIS 6	OMIM	1126	pfam03098	132566532,NP_054799
25939	22257047	Disease	p.Gly209Ser	606754.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606754	AICARDI-GOUTIERES SYNDROME 5	OMIM	64	cd00077	38016914,NP_056289
25939	22257047	Disease	p.Gly209Ser	606754.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606754	AICARDI-GOUTIERES SYNDROME 5	OMIM	61	pfam01966	38016914,NP_056289
25939	22257047	Disease	p.Gly209Ser	606754.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606754	AICARDI-GOUTIERES SYNDROME 5	OMIM	118	smart00471	38016914,NP_056289
25939	22257047	Disease	p.Gly209Ser	606754.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606754	AICARDI-GOUTIERES SYNDROME 5	OMIM	136	COG1078	38016914,NP_056289
25939	22257047	Disease	p.His123Pro	606754.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606754	AICARDI-GOUTIERES SYNDROME 5	OMIM	11	COG1078	38016914,NP_056289
25939	22257047	Disease	p.Met254Val	606754.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606754	AICARDI-GOUTIERES SYNDROME 5	OMIM	116	cd00077	38016914,NP_056289
25939	22257047	Disease	p.Met254Val	606754.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606754	AICARDI-GOUTIERES SYNDROME 5	OMIM	142	pfam01966	38016914,NP_056289
25939	22257047	Disease	p.Met254Val	606754.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606754	AICARDI-GOUTIERES SYNDROME 5	OMIM	256	smart00471	38016914,NP_056289
25939	22257047	Disease	p.Met254Val	606754.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606754	AICARDI-GOUTIERES SYNDROME 5	OMIM	186	COG1078	38016914,NP_056289
7092	74762106	Disease	p.Met182Leu	606742.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	33	pfam01400	22547221,NP_036596
7092	74762106	Disease	p.Met182Leu	606742.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	50	cd04327	22547221,NP_036596
7092	74762106	Disease	p.Met182Leu	606742.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	47	cd04268	22547221,NP_036596
7092	74762106	Disease	p.Met182Leu	606742.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	30	cd04280	22547221,NP_036596
7092	74762106	Disease	p.Met182Leu	606742.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	56	cd04279	22547221,NP_036596
7092	74762106	Disease	p.Met182Leu	606742.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	26	cd04283	22547221,NP_036596
7092	74762106	Disease	p.Met182Leu	606742.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	46	cd00203	22547221,NP_036596
7092	74762106	Disease	p.Met182Leu	606742.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	79	smart00235	22547221,NP_036596
7092	74762106	Disease	p.Met182Leu	606742.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	82	cd04282	22547221,NP_036596
7092	74762106	Disease	p.Met182Leu	606742.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	35	cd04281	22547221,NP_036596
7092	74762106	Disease	p.Val238Ala	606742.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	100	pfam01400	22547221,NP_036596
7092	74762106	Disease	p.Val238Ala	606742.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	165	cd04327	22547221,NP_036596
7092	74762106	Disease	p.Val238Ala	606742.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	368	cd04268	22547221,NP_036596
7092	74762106	Disease	p.Val238Ala	606742.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	114	cd04280	22547221,NP_036596
7092	74762106	Disease	p.Val238Ala	606742.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	206	cd04279	22547221,NP_036596
7092	74762106	Disease	p.Val238Ala	606742.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	81	cd04283	22547221,NP_036596
7092	74762106	Disease	p.Val238Ala	606742.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	248	cd00203	22547221,NP_036596
7092	74762106	Disease	p.Val238Ala	606742.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	294	smart00235	22547221,NP_036596
7092	74762106	Disease	p.Val238Ala	606742.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	137	cd04282	22547221,NP_036596
7092	74762106	Disease	p.Val238Ala	606742.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	95	cd04281	22547221,NP_036596
7092	74762106	Disease	p.Ile629Val	606742.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	3	smart00042	22547221,NP_036596
7092	74762106	Disease	p.Ile629Val	606742.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	16	pfam00431	22547221,NP_036596
7092	74762106	Disease	p.Ile629Val	606742.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606742	ATRIAL SEPTAL DEFECT 6	OMIM	22	cd00041	22547221,NP_036596
54982	32129457	Disease	p.Gly123Asp	606725.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606725	CEROID LIPOFUSCINOSIS, NEURONAL, 6	OMIM	No Domain	N/A	8923532,NP_060352
1836	254763328	Disease	p.Arg279Trp	606718.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718	ATELOSTEOGENESIS, TYPE II||DIASTROPHIC DYSPLASIA||EPIPHYSEAL DYSPLASIA, MULTIPLE, 4	OMIM	240	COG0659	100913030,NP_000103
1836	254763328	Disease	p.Arg279Trp	606718.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718	ATELOSTEOGENESIS, TYPE II||DIASTROPHIC DYSPLASIA||EPIPHYSEAL DYSPLASIA, MULTIPLE, 4	OMIM	47	pfam00916	100913030,NP_000103
1836	254763328	Disease	p.Gly255Glu	606718.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718	ATELOSTEOGENESIS, TYPE II	OMIM	216	COG0659	100913030,NP_000103
1836	254763328	Disease	p.Gly255Glu	606718.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718	ATELOSTEOGENESIS, TYPE II	OMIM	20	pfam00916	100913030,NP_000103
1836	254763328	Disease	p.Ala715Val	606718.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718	ATELOSTEOGENESIS, TYPE II	OMIM	916	COG0659	100913030,NP_000103
1836	254763328	Disease	p.Asn425Asp	606718.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718	ACHONDROGENESIS, TYPE IB	OMIM	441	COG0659	100913030,NP_000103
1836	254763328	Disease	p.Asn425Asp	606718.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718	ACHONDROGENESIS, TYPE IB	OMIM	228	pfam00916	100913030,NP_000103
1836	254763328	Disease	p.Gly678Val	606718.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718	ACHONDROGENESIS, TYPE IB	OMIM	816	COG0659	100913030,NP_000103
1836	254763328	Disease	p.Gly678Val	606718.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718	ACHONDROGENESIS, TYPE IB	OMIM	110	cd06844	100913030,NP_000103
1836	254763328	Disease	p.Gly678Val	606718.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718	ACHONDROGENESIS, TYPE IB	OMIM	161	pfam01740	100913030,NP_000103
1836	254763328	Disease	p.Gly678Val	606718.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718	ACHONDROGENESIS, TYPE IB	OMIM	228	cd07042	100913030,NP_000103
1836	254763328	Disease	p.Gln454Pro	606718.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718	DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT	OMIM	471	COG0659	100913030,NP_000103
1836	254763328	Disease	p.Gln454Pro	606718.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718	DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT	OMIM	258	pfam00916	100913030,NP_000103
1836	254763328	Disease	p.Cys653Ser	606718.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718	EPIPHYSEAL DYSPLASIA, MULTIPLE, 4	OMIM	723	COG0659	100913030,NP_000103
1836	254763328	Disease	p.Cys653Ser	606718.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718	EPIPHYSEAL DYSPLASIA, MULTIPLE, 4	OMIM	85	cd06844	100913030,NP_000103
1836	254763328	Disease	p.Cys653Ser	606718.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718	EPIPHYSEAL DYSPLASIA, MULTIPLE, 4	OMIM	133	pfam01740	100913030,NP_000103
1836	254763328	Disease	p.Cys653Ser	606718.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718	EPIPHYSEAL DYSPLASIA, MULTIPLE, 4	OMIM	197	cd07042	100913030,NP_000103
1836	254763328	Disease	p.Thr512Lys	606718.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718	DE LA CHAPELLE DYSPLASIA||DIASTROPHIC DYSPLASIA	OMIM	531	COG0659	100913030,NP_000103
1836	254763328	Disease	p.Thr512Lys	606718.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718	DE LA CHAPELLE DYSPLASIA||DIASTROPHIC DYSPLASIA	OMIM	318	pfam00916	100913030,NP_000103
1836	254763328	Disease	p.Ala133Val	606718.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606718	DIASTROPHIC DYSPLASIA	OMIM	80	COG0659	100913030,NP_000103
117531	212286376	Disease	p.Asp572Asn	606706.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606706	DEAFNESS, AUTOSOMAL DOMINANT 36	OMIM	64	pfam07810	21071070,NP_619636
117531	212286376	Disease	p.Met654Val	606706.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606706	DEAFNESS, AUTOSOMAL RECESSIVE 7	OMIM	No Domain	N/A	21071070,NP_619636
117531	212286376	Disease	p.Asp572His	606706.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606706	DEAFNESS, AUTOSOMAL DOMINANT 36	OMIM	64	pfam07810	21071070,NP_619636
117531	212286376	Disease	p.Cys515Arg	606706.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606706	DEAFNESS, AUTOSOMAL RECESSIVE 7	OMIM	No Domain	N/A	21071070,NP_619636
5314	126131104	Disease	p.Thr36Met	606702.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606702	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
5314	296439717	Disease	p.Thr36Met	606702.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606702	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	126131102,NP_619639
5314	126131104	Disease	p.Ser1664Phe	606702.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606702	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
5314	296439717	Disease	p.Ser1664Phe	606702.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606702	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	126131102,NP_619639
5314	126131104	Disease	p.Ser3018Phe	606702.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606702	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
5314	296439717	Disease	p.Ser3018Phe	606702.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606702	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	126131102,NP_619639
5314	126131104	Disease	p.Val1741Met	606702.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606702	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
5314	296439717	Disease	p.Val1741Met	606702.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606702	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	126131102,NP_619639
5314	126131104	Disease	p.Ile3553Thr	606702.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606702	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
5314	296439717	Disease	p.Ile3553Thr	606702.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606702	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	126131102,NP_619639
5314	126131104	Disease	p.Val3471Gly	606702.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606702	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
5314	296439717	Disease	p.Val3471Gly	606702.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606702	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	126131102,NP_619639
8890	28381357	Disease	p.Arg357Gln	606687.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	234	COG0182	78000158,NP_001029288
8890	28381357	Disease	p.Arg357Gln	606687.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	227	pfam01008	78000158,NP_001029288
8890	28381357	Disease	p.Arg357Gln	606687.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	228	COG1184	78000158,NP_001029288
8890	78000156	Disease	p.Arg357Gln	606687.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	235	COG0182	NULL
8890	78000156	Disease	p.Arg357Gln	606687.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	228	pfam01008	NULL
8890	78000156	Disease	p.Arg357Gln	606687.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	229	COG1184	NULL
8890	187607323	Disease	p.Arg357Gln	606687.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	180	pfam01008	NULL
8890	187607323	Disease	p.Arg357Gln	606687.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	147	COG0182	NULL
8890	187607323	Disease	p.Arg357Gln	606687.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	206	COG1184	NULL
8890	28381357	Disease	p.Arg374Cys	606687.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	252	COG0182	78000158,NP_001029288
8890	28381357	Disease	p.Arg374Cys	606687.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	246	pfam01008	78000158,NP_001029288
8890	28381357	Disease	p.Arg374Cys	606687.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	247	COG1184	78000158,NP_001029288
8890	78000156	Disease	p.Arg374Cys	606687.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	253	COG0182	NULL
8890	78000156	Disease	p.Arg374Cys	606687.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	247	pfam01008	NULL
8890	78000156	Disease	p.Arg374Cys	606687.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	248	COG1184	NULL
8890	187607323	Disease	p.Arg374Cys	606687.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	224	pfam01008	NULL
8890	187607323	Disease	p.Arg374Cys	606687.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	231	COG0182	NULL
8890	187607323	Disease	p.Arg374Cys	606687.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	224	COG1184	NULL
8890	28381357	Disease	p.Ala228Val	606687.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	11	pfam01008	78000158,NP_001029288
8890	28381357	Disease	p.Ala228Val	606687.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	27	COG1184	78000158,NP_001029288
8890	78000156	Disease	p.Ala228Val	606687.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	12	pfam01008	NULL
8890	78000156	Disease	p.Ala228Val	606687.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	28	COG1184	NULL
8890	187607323	Disease	p.Ala228Val	606687.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	7	COG1184	NULL
8890	28381357	Disease	p.Cys465Arg	606687.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	OVARIOLEUKODYSTROPHY	OMIM	374	COG0182	78000158,NP_001029288
8890	28381357	Disease	p.Cys465Arg	606687.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	OVARIOLEUKODYSTROPHY	OMIM	342	pfam01008	78000158,NP_001029288
8890	28381357	Disease	p.Cys465Arg	606687.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	OVARIOLEUKODYSTROPHY	OMIM	387	COG1184	78000158,NP_001029288
8890	78000156	Disease	p.Cys465Arg	606687.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	OVARIOLEUKODYSTROPHY	OMIM	375	COG0182	NULL
8890	78000156	Disease	p.Cys465Arg	606687.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	OVARIOLEUKODYSTROPHY	OMIM	343	pfam01008	NULL
8890	78000156	Disease	p.Cys465Arg	606687.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	OVARIOLEUKODYSTROPHY	OMIM	388	COG1184	NULL
8890	187607323	Disease	p.Cys465Arg	606687.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	OVARIOLEUKODYSTROPHY	OMIM	322	pfam01008	NULL
8890	187607323	Disease	p.Cys465Arg	606687.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	OVARIOLEUKODYSTROPHY	OMIM	350	COG0182	NULL
8890	187607323	Disease	p.Cys465Arg	606687.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	OVARIOLEUKODYSTROPHY	OMIM	320	COG1184	NULL
8890	28381357	Disease	p.Tyr489His	606687.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	OVARIOLEUKODYSTROPHY	OMIM	388	COG0182	78000158,NP_001029288
8890	28381357	Disease	p.Tyr489His	606687.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	OVARIOLEUKODYSTROPHY	OMIM	425	pfam01008	78000158,NP_001029288
8890	28381357	Disease	p.Tyr489His	606687.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	OVARIOLEUKODYSTROPHY	OMIM	424	COG1184	78000158,NP_001029288
8890	78000156	Disease	p.Tyr489His	606687.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	OVARIOLEUKODYSTROPHY	OMIM	389	COG0182	NULL
8890	78000156	Disease	p.Tyr489His	606687.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	OVARIOLEUKODYSTROPHY	OMIM	426	pfam01008	NULL
8890	78000156	Disease	p.Tyr489His	606687.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	OVARIOLEUKODYSTROPHY	OMIM	425	COG1184	NULL
8890	187607323	Disease	p.Tyr489His	606687.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	OVARIOLEUKODYSTROPHY	OMIM	346	pfam01008	NULL
8890	187607323	Disease	p.Tyr489His	606687.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	OVARIOLEUKODYSTROPHY	OMIM	375_G	COG0182	NULL
8890	187607323	Disease	p.Tyr489His	606687.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606687	OVARIOLEUKODYSTROPHY	OMIM	391	COG1184	NULL
1967	2494303	Disease	p.Asn208Tyr	606686.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606686	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	291	COG1184	4503503,NP_001405
1967	2494303	Disease	p.Asn208Tyr	606686.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606686	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	298	COG0182	4503503,NP_001405
1967	2494303	Disease	p.Asn208Tyr	606686.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606686	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	293	pfam01008	4503503,NP_001405
64324	27477095	Disease	p.His2143Glu	606681.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606681	WEAVER SYNDROME	OMIM	No Domain	N/A	NULL
64324	32469769	Disease	p.His2143Glu	606681.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606681	WEAVER SYNDROME	OMIM	65	smart00249	19923586,NP_071900
64324	27477095	Disease	p.Cys2183Ser	606681.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606681	WEAVER SYNDROME	OMIM	No Domain	N/A	NULL
64324	32469769	Disease	p.Cys2183Ser	606681.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606681	WEAVER SYNDROME	OMIM	No Domain	N/A	19923586,NP_071900
64324	27477095	Disease	p.Cys2202Tyr	606681.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606681	SOTOS SYNDROME	OMIM	No Domain	N/A	NULL
64324	32469769	Disease	p.Cys2202Tyr	606681.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606681	SOTOS SYNDROME	OMIM	No Domain	N/A	19923586,NP_071900
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	20_G	cd07197	7706509,NP_057411
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	5_G	cd07581	7706509,NP_057411
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	22	cd07582	7706509,NP_057411
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	3	cd07578	7706509,NP_057411
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	21	COG0388	7706509,NP_057411
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	6	cd07580	7706509,NP_057411
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	3	cd07585	7706509,NP_057411
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	81	cd07587	7706509,NP_057411
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	17	cd07568	7706509,NP_057411
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	13	cd07569	7706509,NP_057411
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	10_G	cd07573	7706509,NP_057411
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	14	cd07565	7706509,NP_057411
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	7_G	cd07564	7706509,NP_057411
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	15	cd07574	7706509,NP_057411
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	9_G	cd07583	7706509,NP_057411
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	6_G	cd07577	7706509,NP_057411
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	14	cd07576	7706509,NP_057411
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	11_G	cd07572	7706509,NP_057411
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	13	pfam00795	7706509,NP_057411
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	12	cd07586	7706509,NP_057411
51733	17373540	Disease	p.Ala85Glu	606673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	7	cd07584	7706509,NP_057411
51733	17373540	Disease	p.Arg70Pro	606673.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	66	cd07587	7706509,NP_057411
51733	17373540	Disease	p.Arg70Pro	606673.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	2	cd07568	7706509,NP_057411
51733	17373540	Disease	p.Arg70Pro	606673.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673	BETA-UREIDOPROPIONASE DEFICIENCY	OMIM	2	cd07569	7706509,NP_057411
2811	291190772	Disease	p.Gly233Val	606672.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606672	VON WILLEBRAND DISEASE, PLATELET-TYPE	OMIM	13	smart00082	NULL
2811	291190772	Disease	p.Leu57Phe	606672.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606672	BERNARD-SOULIER SYNDROME, TYPE A, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
2811	291190772	Disease	p.Met239Val	606672.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606672	VON WILLEBRAND DISEASE, PLATELET-TYPE	OMIM	20	smart00082	NULL
2811	291190772	Disease	p.Ala156Val	606672.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606672	BERNARD-SOULIER SYNDROME, TYPE A||BERNARD-SOULIER SYNDROME, TYPE A, AUTOSOMAL DOMINANT	OMIM	21	smart00370	NULL
2811	291190772	Disease	p.Ala156Val	606672.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606672	BERNARD-SOULIER SYNDROME, TYPE A||BERNARD-SOULIER SYNDROME, TYPE A, AUTOSOMAL DOMINANT	OMIM	21	smart00369	NULL
122042	21362625	Disease	p.Thr222Pro	606655.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606655	CRYPTORCHIDISM	OMIM	No Domain	N/A	18677729,NP_570718
122042	260593673	Disease	p.Thr222Pro	606655.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606655	CRYPTORCHIDISM	OMIM	No Domain	N/A	NULL
85476	116241346	Disease	p.Asn174Ser	606639.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	154	cd04166	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	606639.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	191	cd01883	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	606639.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	194	cd01889	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	606639.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	135	cd01884	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	606639.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	124	cd04168	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	606639.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	160	cd01886	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	606639.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	177	cd00881	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	606639.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	179	cd04170	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	606639.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	137	COG1217	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	606639.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	211	pfam00009	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	606639.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	148	COG4108	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	606639.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	159	cd01890	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	606639.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	198	cd04167	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	606639.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	776	cd01885	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	606639.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	140	COG0481	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	606639.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	138	cd04169	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	606639.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	139	cd01891	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	606639.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	173	COG0480	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	606639.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	167	COG5256	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	606639.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	745	cd01887	18390331,NP_079272
85476	116241346	Disease	p.Met496Arg	606639.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	398	COG1217	18390331,NP_079272
85476	116241346	Disease	p.Met496Arg	606639.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	464	COG4108	18390331,NP_079272
85476	116241346	Disease	p.Met496Arg	606639.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	353	COG0481	18390331,NP_079272
85476	116241346	Disease	p.Met496Arg	606639.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606639	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	OMIM	824	COG0480	18390331,NP_079272
22861	17380146	Disease	p.Leu155His	606636.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606636	VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1	OMIM	No Domain	N/A	14719829,NP_127497
22861	14719833	Disease	p.Leu155His	606636.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606636	VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1	OMIM	No Domain	N/A	NULL
22861	74271814	Disease	p.Leu155His	606636.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606636	VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1	OMIM	No Domain	N/A	NULL
22861	7662386	Disease	p.Leu155His	606636.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606636	VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1	OMIM	No Domain	N/A	NULL
22861	14719835	Disease	p.Leu155His	606636.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606636	VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1	OMIM	No Domain	N/A	NULL
22999	270288798	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	No Domain	N/A	NULL
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	78	cd04029	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	123	cd04020	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	78	cd08392	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	79	cd08405	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	78	cd08381	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	140	pfam00168	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	93	cd08675	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	65	cd08378	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	61	cd04024	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	213	cd00030	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	78	cd08386	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	97	cd04031	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	62	cd04043	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	60	cd04022	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	254	smart00239	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	58	cd04025	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	92	cd08388	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	86	cd04009	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	160	cd08521	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	91	cd00276	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	79	cd08685	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	77	cd08385	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	86	cd08390	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	82	cd04035	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	84	cd08404	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	82	cd04030	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	83	cd04026	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	75	cd08384	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	78	cd08393	41054864,NP_055804
22999	270288800	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	No Domain	N/A	NULL
22999	270288806	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	No Domain	N/A	NULL
22999	270288802	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	No Domain	N/A	NULL
22999	270288804	Disease	p.Arg820His	606629.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606629	CONE-ROD DYSTROPHY 7	OMIM	No Domain	N/A	NULL
27232	12644416	Disease	p.Leu49Pro	606628.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606628	GLYCINE N-METHYLTRANSFERASE DEFICIENCY	OMIM	70	COG0500	9506741,NP_061833
27232	12644416	Disease	p.His176Asn	606628.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606628	GLYCINE N-METHYLTRANSFERASE DEFICIENCY	OMIM	396	COG0500	9506741,NP_061833
27232	12644416	Disease	p.His176Asn	606628.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606628	GLYCINE N-METHYLTRANSFERASE DEFICIENCY	OMIM	349	cd02440	9506741,NP_061833
50485	60390962	Disease	p.Ile548Asn	606622.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	964	smart00487	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Ile548Asn	606622.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	410	cd00046	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Ile548Asn	606622.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	271	pfam00176	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Ile548Asn	606622.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	798	COG0553	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Ile548Asn	606622.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	964	smart00487	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Ile548Asn	606622.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	410	cd00046	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Ile548Asn	606622.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	271	pfam00176	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Ile548Asn	606622.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	798	COG0553	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg645Cys	606622.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	402	pfam00176	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg645Cys	606622.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	952	COG0553	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg645Cys	606622.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	402	pfam00176	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg645Cys	606622.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	952	COG0553	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg586Trp	606622.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	1219	smart00487	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg586Trp	606622.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	314	pfam00176	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg586Trp	606622.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	854	COG0553	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg586Trp	606622.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	1219	smart00487	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg586Trp	606622.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	314	pfam00176	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg586Trp	606622.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	854	COG0553	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg764Gln	606622.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	148	cd00079	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg764Gln	606622.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	41	pfam00271	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg764Gln	606622.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	85	smart00490	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg764Gln	606622.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	1408	COG0553	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg764Gln	606622.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	148	cd00079	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg764Gln	606622.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	41	pfam00271	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg764Gln	606622.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	85	smart00490	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg764Gln	606622.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606622	SCHIMKE IMMUNOOSSEOUS DYSPLASIA	OMIM	1408	COG0553	187761314,NP_001120679|21071060,NP_054859
11277	47606216	Disease	p.Arg114His	606609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1||SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO	OMIM	59	cd06136	7705353,NP_057465
11277	47606216	Disease	p.Arg114His	606609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1||SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO	OMIM	68	cd06127	7705353,NP_057465
11277	47606216	Disease	p.Arg114His	606609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1||SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO	OMIM	53	cd06125	7705353,NP_057465
11277	47606216	Disease	p.Arg114His	606609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1||SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO	OMIM	110_G	smart00479	7705353,NP_057465
11277	18375535	Disease	p.Arg114His	606609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1||SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO	OMIM	225	smart00479	NULL
11277	18375535	Disease	p.Arg114His	606609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1||SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO	OMIM	136	cd06127	NULL
11277	18375535	Disease	p.Arg114His	606609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1||SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO	OMIM	121	cd06125	NULL
11277	18375535	Disease	p.Arg114His	606609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1||SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO	OMIM	114	cd06136	NULL
11277	47606216	Disease	p.Val201Asp	606609.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1	OMIM	146	cd06136	7705353,NP_057465
11277	47606216	Disease	p.Val201Asp	606609.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1	OMIM	194	cd06127	7705353,NP_057465
11277	47606216	Disease	p.Val201Asp	606609.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1	OMIM	185	cd06125	7705353,NP_057465
11277	47606216	Disease	p.Val201Asp	606609.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1	OMIM	277	smart00479	7705353,NP_057465
11277	18375535	Disease	p.Val201Asp	606609.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1	OMIM	399	smart00479	NULL
11277	18375535	Disease	p.Val201Asp	606609.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1	OMIM	278	cd06127	NULL
11277	18375535	Disease	p.Val201Asp	606609.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1	OMIM	254	cd06125	NULL
11277	18375535	Disease	p.Val201Asp	606609.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1	OMIM	385	cd06136	NULL
11277	47606216	Disease	p.Asp200Asn	606609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1	OMIM	145	cd06136	7705353,NP_057465
11277	47606216	Disease	p.Asp200Asn	606609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1	OMIM	193	cd06127	7705353,NP_057465
11277	47606216	Disease	p.Asp200Asn	606609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1	OMIM	184	cd06125	7705353,NP_057465
11277	47606216	Disease	p.Asp200Asn	606609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1	OMIM	276	smart00479	7705353,NP_057465
11277	18375535	Disease	p.Asp200Asn	606609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1	OMIM	398	smart00479	NULL
11277	18375535	Disease	p.Asp200Asn	606609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1	OMIM	277	cd06127	NULL
11277	18375535	Disease	p.Asp200Asn	606609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1	OMIM	253	cd06125	NULL
11277	18375535	Disease	p.Asp200Asn	606609.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	AICARDI-GOUTIERES SYNDROME 1	OMIM	384	cd06136	NULL
11277	47606216	Disease	p.Asp18Asn	606609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	CHILBLAIN LUPUS	OMIM	No Domain	N/A	7705353,NP_057465
11277	18375535	Disease	p.Asp18Asn	606609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	CHILBLAIN LUPUS	OMIM	6	smart00479	NULL
11277	18375535	Disease	p.Asp18Asn	606609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	CHILBLAIN LUPUS	OMIM	4	cd06127	NULL
11277	18375535	Disease	p.Asp18Asn	606609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	CHILBLAIN LUPUS	OMIM	4	cd06125	NULL
11277	18375535	Disease	p.Asp18Asn	606609.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606609	CHILBLAIN LUPUS	OMIM	5	cd06136	NULL
128178	18152769	Disease	p.Glu142Lys	606603.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606603	ECTODERMAL DYSPLASIA, ANHIDROTIC, AUTOSOMAL RECESSIVE	OMIM	33	pfam00531	NULL
128178	212276512	Disease	p.Glu142Lys	606603.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606603	ECTODERMAL DYSPLASIA, ANHIDROTIC, AUTOSOMAL RECESSIVE	OMIM	20	pfam00531	153267418,NP_665860
128178	18152769	Disease	p.Leu112Arg	606603.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606603	ECTODERMAL DYSPLASIA, ANHIDROTIC, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
128178	212276512	Disease	p.Leu112Arg	606603.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606603	ECTODERMAL DYSPLASIA, ANHIDROTIC, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	153267418,NP_665860
54332	108773799	Disease	p.Arg161His	606598.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4A	OMIM	97	cd00299	NULL
54332	108773799	Disease	p.Arg161His	606598.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4A	OMIM	68	cd03190	NULL
54332	108773799	Disease	p.Arg161His	606598.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4A	OMIM	58	cd03204	NULL
54332	108773799	Disease	p.Arg161His	606598.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4A	OMIM	65_G	cd03188	NULL
54332	108773799	Disease	p.Arg161His	606598.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4A	OMIM	64_G	cd03180	NULL
54332	269849682	Disease	p.Arg161His	606598.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4A	OMIM	4	cd00299	108773797,NP_061845
54332	269849682	Disease	p.Arg161His	606598.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4A	OMIM	177	COG0625	108773797,NP_061845
54332	108773799	Disease	p.Arg282Cys	606598.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A	OMIM	No Domain	N/A	NULL
54332	269849682	Disease	p.Arg282Cys	606598.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A	OMIM	185	cd00299	108773797,NP_061845
54332	269849682	Disease	p.Arg282Cys	606598.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A	OMIM	113	cd03180	108773797,NP_061845
54332	269849682	Disease	p.Arg282Cys	606598.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A	OMIM	127	cd03190	108773797,NP_061845
54332	269849682	Disease	p.Arg282Cys	606598.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A	OMIM	114	cd03204	108773797,NP_061845
54332	269849682	Disease	p.Arg282Cys	606598.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A	OMIM	300	COG0625	108773797,NP_061845
54332	269849682	Disease	p.Arg282Cys	606598.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A	OMIM	129	cd03188	108773797,NP_061845
54332	108773799	Disease	p.Arg120Trp	606598.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	31	cd00299	NULL
54332	108773799	Disease	p.Arg120Trp	606598.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	7	cd03190	NULL
54332	108773799	Disease	p.Arg120Trp	606598.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	10	cd03204	NULL
54332	108773799	Disease	p.Arg120Trp	606598.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	15	cd03188	NULL
54332	269849682	Disease	p.Arg120Trp	606598.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	126	COG0625	108773797,NP_061845
54332	108773799	Disease	p.Thr157Pro	606598.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	93	cd00299	NULL
54332	108773799	Disease	p.Thr157Pro	606598.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	62	cd03190	NULL
54332	108773799	Disease	p.Thr157Pro	606598.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	54	cd03204	NULL
54332	108773799	Disease	p.Thr157Pro	606598.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	63	cd03188	NULL
54332	108773799	Disease	p.Thr157Pro	606598.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	63	cd03180	NULL
54332	269849682	Disease	p.Thr157Pro	606598.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	173	COG0625	108773797,NP_061845
54332	108773799	Disease	p.Leu239Phe	606598.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A	OMIM	No Domain	N/A	NULL
54332	269849682	Disease	p.Leu239Phe	606598.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A	OMIM	129	cd00299	108773797,NP_061845
54332	269849682	Disease	p.Leu239Phe	606598.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A	OMIM	68	cd03180	108773797,NP_061845
54332	269849682	Disease	p.Leu239Phe	606598.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A	OMIM	78	cd03190	108773797,NP_061845
54332	269849682	Disease	p.Leu239Phe	606598.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A	OMIM	69	cd03204	108773797,NP_061845
54332	269849682	Disease	p.Leu239Phe	606598.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A	OMIM	229	COG0625	108773797,NP_061845
54332	269849682	Disease	p.Leu239Phe	606598.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A	OMIM	73	cd03188	108773797,NP_061845
54332	108773799	Disease	p.Gln218Glu	606598.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	131	cd03190	NULL
54332	108773799	Disease	p.Gln218Glu	606598.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	118	cd03204	NULL
54332	108773799	Disease	p.Gln218Glu	606598.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	133	cd03188	NULL
54332	108773799	Disease	p.Gln218Glu	606598.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	117	cd03180	NULL
54332	269849682	Disease	p.Gln218Glu	606598.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	86	cd00299	108773797,NP_061845
54332	269849682	Disease	p.Gln218Glu	606598.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	56	cd03180	108773797,NP_061845
54332	269849682	Disease	p.Gln218Glu	606598.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	55	cd03190	108773797,NP_061845
54332	269849682	Disease	p.Gln218Glu	606598.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	47	cd03204	108773797,NP_061845
54332	269849682	Disease	p.Gln218Glu	606598.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	219	COG0625	108773797,NP_061845
54332	269849682	Disease	p.Gln218Glu	606598.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	56	cd03188	108773797,NP_061845
54332	108773799	Disease	p.Pro231Leu	606598.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2K	OMIM	182	cd03190	NULL
54332	269849682	Disease	p.Pro231Leu	606598.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2K	OMIM	99	cd00299	108773797,NP_061845
54332	269849682	Disease	p.Pro231Leu	606598.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2K	OMIM	64_G	cd03180	108773797,NP_061845
54332	269849682	Disease	p.Pro231Leu	606598.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2K	OMIM	70	cd03190	108773797,NP_061845
54332	269849682	Disease	p.Pro231Leu	606598.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2K	OMIM	61	cd03204	108773797,NP_061845
54332	269849682	Disease	p.Pro231Leu	606598.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2K	OMIM	222_G	COG0625	108773797,NP_061845
54332	269849682	Disease	p.Pro231Leu	606598.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2K	OMIM	65_G	cd03188	108773797,NP_061845
54332	108773799	Disease	p.Cys240Tyr	606598.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	No Domain	N/A	NULL
54332	269849682	Disease	p.Cys240Tyr	606598.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	130	cd00299	108773797,NP_061845
54332	269849682	Disease	p.Cys240Tyr	606598.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	69	cd03180	108773797,NP_061845
54332	269849682	Disease	p.Cys240Tyr	606598.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	79	cd03190	108773797,NP_061845
54332	269849682	Disease	p.Cys240Tyr	606598.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	70	cd03204	108773797,NP_061845
54332	269849682	Disease	p.Cys240Tyr	606598.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	230	COG0625	108773797,NP_061845
54332	269849682	Disease	p.Cys240Tyr	606598.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606598	CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K	OMIM	74	cd03188	108773797,NP_061845
5077	31563348	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	smart00351	NULL
5077	31563348	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	pfam00292	NULL
5077	31563348	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	cd00131	NULL
5077	6654638	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	smart00351	NULL
5077	6654638	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	pfam00292	NULL
5077	6654638	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	cd00131	NULL
5077	31563344	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	smart00351	NULL
5077	31563344	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	pfam00292	NULL
5077	31563344	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	cd00131	NULL
5077	7524356	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	smart00351	NULL
5077	7524356	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	pfam00292	NULL
5077	7524356	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	cd00131	NULL
5077	31563342	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	smart00351	NULL
5077	31563342	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	pfam00292	NULL
5077	31563342	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	cd00131	NULL
5077	31563346	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	smart00351	NULL
5077	31563346	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	pfam00292	NULL
5077	31563346	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	cd00131	NULL
5077	188219638	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	pfam00292	NULL
5077	188219638	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	smart00351	NULL
5077	188219638	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	cd00131	NULL
5077	1172022	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Pro50Leu	606597.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	17	cd00131	31563340,NP_852122
5077	31563348	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	smart00351	NULL
5077	31563348	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	pfam00292	NULL
5077	31563348	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	cd00131	NULL
5077	6654638	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	smart00351	NULL
5077	6654638	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	pfam00292	NULL
5077	6654638	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	cd00131	NULL
5077	31563344	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	smart00351	NULL
5077	31563344	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	pfam00292	NULL
5077	31563344	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	cd00131	NULL
5077	7524356	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	smart00351	NULL
5077	7524356	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	pfam00292	NULL
5077	7524356	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	cd00131	NULL
5077	31563342	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	smart00351	NULL
5077	31563342	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	pfam00292	NULL
5077	31563342	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	cd00131	NULL
5077	31563346	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	smart00351	NULL
5077	31563346	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	pfam00292	NULL
5077	31563346	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	cd00131	NULL
5077	188219638	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	pfam00292	NULL
5077	188219638	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	smart00351	NULL
5077	188219638	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	cd00131	NULL
5077	1172022	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Gly81Ala	606597.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	48	cd00131	31563340,NP_852122
79742	193804856	Disease	p.Gly81Ala	606597.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Gly81Ala	606597.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
5077	31563348	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	smart00351	NULL
5077	31563348	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	pfam00292	NULL
5077	31563348	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	cd00131	NULL
5077	6654638	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	smart00351	NULL
5077	6654638	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	pfam00292	NULL
5077	6654638	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	cd00131	NULL
5077	31563344	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	smart00351	NULL
5077	31563344	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	pfam00292	NULL
5077	31563344	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	cd00131	NULL
5077	7524356	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	smart00351	NULL
5077	7524356	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	pfam00292	NULL
5077	7524356	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	cd00131	NULL
5077	31563342	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	smart00351	NULL
5077	31563342	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	pfam00292	NULL
5077	31563342	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	cd00131	NULL
5077	31563346	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	smart00351	NULL
5077	31563346	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	pfam00292	NULL
5077	31563346	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	cd00131	NULL
5077	188219638	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	pfam00292	NULL
5077	188219638	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	smart00351	NULL
5077	188219638	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	cd00131	NULL
5077	1172022	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Ser84Phe	606597.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1	OMIM	51	cd00131	31563340,NP_852122
5077	31563348	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	smart00351	NULL
5077	31563348	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	pfam00292	NULL
5077	31563348	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	cd00131	NULL
5077	6654638	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	smart00351	NULL
5077	6654638	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	pfam00292	NULL
5077	6654638	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	cd00131	NULL
5077	31563344	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	smart00351	NULL
5077	31563344	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	pfam00292	NULL
5077	31563344	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	cd00131	NULL
5077	7524356	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	smart00351	NULL
5077	7524356	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	pfam00292	NULL
5077	7524356	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	cd00131	NULL
5077	31563342	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	smart00351	NULL
5077	31563342	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	pfam00292	NULL
5077	31563342	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	cd00131	NULL
5077	31563346	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	smart00351	NULL
5077	31563346	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	pfam00292	NULL
5077	31563346	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	cd00131	NULL
5077	188219638	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	pfam00292	NULL
5077	188219638	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	smart00351	NULL
5077	188219638	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	cd00131	NULL
5077	1172022	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Asn47Lys	606597.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	CRANIOFACIAL-DEAFNESS-HAND SYNDROME	OMIM	14	cd00131	31563340,NP_852122
5077	31563348	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	smart00351	NULL
5077	31563348	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	pfam00292	NULL
5077	31563348	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	cd00131	NULL
5077	6654638	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	smart00351	NULL
5077	6654638	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	pfam00292	NULL
5077	6654638	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	cd00131	NULL
5077	31563344	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	smart00351	NULL
5077	31563344	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	pfam00292	NULL
5077	31563344	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	cd00131	NULL
5077	7524356	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	smart00351	NULL
5077	7524356	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	pfam00292	NULL
5077	7524356	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	cd00131	NULL
5077	31563342	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	smart00351	NULL
5077	31563342	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	pfam00292	NULL
5077	31563342	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	cd00131	NULL
5077	31563346	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	smart00351	NULL
5077	31563346	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	pfam00292	NULL
5077	31563346	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	cd00131	NULL
5077	188219638	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	pfam00292	NULL
5077	188219638	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	smart00351	NULL
5077	188219638	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	cd00131	NULL
5077	1172022	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Asn47His	606597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	14	cd00131	31563340,NP_852122
5077	31563348	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	smart00351	NULL
5077	31563348	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	pfam00292	NULL
5077	31563348	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	cd00131	NULL
5077	6654638	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	smart00351	NULL
5077	6654638	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	pfam00292	NULL
5077	6654638	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	cd00131	NULL
5077	31563344	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	smart00351	NULL
5077	31563344	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	pfam00292	NULL
5077	31563344	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	cd00131	NULL
5077	7524356	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	smart00351	NULL
5077	7524356	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	pfam00292	NULL
5077	7524356	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	cd00131	NULL
5077	31563342	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	smart00351	NULL
5077	31563342	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	pfam00292	NULL
5077	31563342	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	cd00131	NULL
5077	31563346	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	smart00351	NULL
5077	31563346	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	pfam00292	NULL
5077	31563346	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	cd00131	NULL
5077	188219638	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	pfam00292	NULL
5077	188219638	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	smart00351	NULL
5077	188219638	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	cd00131	NULL
5077	1172022	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Tyr90His	606597.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 3	OMIM	57	cd00131	31563340,NP_852122
5077	31563348	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	smart00351	NULL
5077	31563348	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	pfam00292	NULL
5077	31563348	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	cd00131	NULL
5077	6654638	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	smart00351	NULL
5077	6654638	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	pfam00292	NULL
5077	6654638	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	cd00131	NULL
5077	31563344	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	smart00351	NULL
5077	31563344	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	pfam00292	NULL
5077	31563344	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	cd00131	NULL
5077	7524356	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	smart00351	NULL
5077	7524356	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	pfam00292	NULL
5077	7524356	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	cd00131	NULL
5077	31563342	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	smart00351	NULL
5077	31563342	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	pfam00292	NULL
5077	31563342	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	cd00131	NULL
5077	31563346	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	smart00351	NULL
5077	31563346	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	pfam00292	NULL
5077	31563346	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	cd00131	NULL
5077	188219638	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	pfam00292	NULL
5077	188219638	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	smart00351	NULL
5077	188219638	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	cd00131	NULL
5077	1172022	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Arg56Leu	606597.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606597	WAARDENBURG SYNDROME, TYPE 1	OMIM	23	cd00131	31563340,NP_852122
79147	46395992	Disease	p.Tyr309Cys	606596.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5	OMIM	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Tyr309Cys	606596.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5	OMIM	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Pro448Leu	606596.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5	OMIM	776	pfam04991	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Pro448Leu	606596.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5	OMIM	776	pfam04991	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Leu276Ile	606596.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5	OMIM	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Leu276Ile	606596.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5	OMIM	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Pro316Thr	606596.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 5	OMIM	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Pro316Thr	606596.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 5	OMIM	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Ser221Arg	606596.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 5	OMIM	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Ser221Arg	606596.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 5	OMIM	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Ala455Asp	606596.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 5	OMIM	783	pfam04991	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Ala455Asp	606596.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 5	OMIM	783	pfam04991	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Val405Leu	606596.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 5	OMIM	211	pfam04991	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Val405Leu	606596.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 5	OMIM	211	pfam04991	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Arg54Trp	606596.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5	OMIM	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Arg54Trp	606596.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5	OMIM	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Val79Met	606596.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5	OMIM	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Val79Met	606596.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5	OMIM	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Arg134Trp	606596.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5	OMIM	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Arg134Trp	606596.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5	OMIM	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Val300Ala	606596.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5	OMIM	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Val300Ala	606596.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5	OMIM	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Tyr307Asn	606596.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5	OMIM	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Tyr307Asn	606596.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5	OMIM	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Cys318Tyr	606596.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	OMIM	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Cys318Tyr	606596.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	OMIM	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Asn463Asp	606596.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5	OMIM	792	pfam04991	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Asn463Asp	606596.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606596	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5	OMIM	792	pfam04991	13236528,NP_077277|89941475,NP_001034974
80207	156151427	Disease	p.Gly93Ser	606580.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606580	OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT	OMIM	165	pfam07047	NULL
80207	20139177	Disease	p.Gly93Ser	606580.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606580	OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT	OMIM	165	pfam07047	13376717,NP_079412
80207	156151427	Disease	p.Gln105Glu	606580.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606580	OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT	OMIM	177	pfam07047	NULL
80207	20139177	Disease	p.Gln105Glu	606580.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606580	OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT	OMIM	177	pfam07047	13376717,NP_079412
85366	24211884	Disease	p.Ala87Val	606566.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606566	CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC	OMIM	No Domain	N/A	14993776,NP_149109
85366	24211884	Disease	p.Ala95Glu	606566.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606566	CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC	OMIM	No Domain	N/A	14993776,NP_149109
4645	296439293	Disease	p.Val108Gly	606540.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	45	cd01385	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	606540.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	38	pfam00063	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	606540.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	43	cd01377	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	606540.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	57	cd00124	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	606540.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	48	cd01380	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	606540.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	39	cd01378	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	606540.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	38	cd01381	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	606540.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	38	cd01379	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	606540.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	46	cd01383	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	606540.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	56	smart00242	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	606540.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	39	cd01384	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	606540.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	39	cd01387	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	606540.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	128	COG5022	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	606540.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	3	cd01363	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	606540.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	42	cd01382	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	606540.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	38	cd01386	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	606540.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	727	cd01385	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	606540.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	841	pfam00063	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	606540.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	703	cd01377	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	606540.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	1005	cd00124	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	606540.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	663	cd01380	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	606540.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	777	cd01378	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	606540.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	576	cd01381	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	606540.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	916	cd01379	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	606540.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	578	cd01383	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	606540.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	1344	smart00242	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	606540.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	663	cd01384	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	606540.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	584	cd01387	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	606540.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	715	COG5022	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	606540.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	694	cd01363	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	606540.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	678	cd01382	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	606540.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	698	cd01386	122937345,NP_001073936
4645	296439293	Disease	p.Pro660Leu	606540.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	731	cd01385	122937345,NP_001073936
4645	296439293	Disease	p.Pro660Leu	606540.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	845	pfam00063	122937345,NP_001073936
4645	296439293	Disease	p.Pro660Leu	606540.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	707	cd01377	122937345,NP_001073936
4645	296439293	Disease	p.Pro660Leu	606540.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	1009	cd00124	122937345,NP_001073936
4645	296439293	Disease	p.Pro660Leu	606540.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	667	cd01380	122937345,NP_001073936
4645	296439293	Disease	p.Pro660Leu	606540.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	781	cd01378	122937345,NP_001073936
4645	296439293	Disease	p.Pro660Leu	606540.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	580	cd01381	122937345,NP_001073936
4645	296439293	Disease	p.Pro660Leu	606540.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	920	cd01379	122937345,NP_001073936
4645	296439293	Disease	p.Pro660Leu	606540.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	582	cd01383	122937345,NP_001073936
4645	296439293	Disease	p.Pro660Leu	606540.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	1348	smart00242	122937345,NP_001073936
4645	296439293	Disease	p.Pro660Leu	606540.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	667	cd01384	122937345,NP_001073936
4645	296439293	Disease	p.Pro660Leu	606540.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	588	cd01387	122937345,NP_001073936
4645	296439293	Disease	p.Pro660Leu	606540.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	719	COG5022	122937345,NP_001073936
4645	296439293	Disease	p.Pro660Leu	606540.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	682	cd01382	122937345,NP_001073936
4645	296439293	Disease	p.Pro660Leu	606540.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606540	MICROVILLUS INCLUSION DISEASE	OMIM	704	cd01386	122937345,NP_001073936
1593	399288	Disease	p.Arg446Cys	606530.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530	CEREBROTENDINOUS XANTHOMATOSIS	OMIM	463	pfam00067	4503211,NP_000775
1593	399288	Disease	p.Arg446Cys	606530.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530	CEREBROTENDINOUS XANTHOMATOSIS	OMIM	462	COG2124	4503211,NP_000775
1593	399288	Disease	p.Arg362Cys	606530.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530	CEREBROTENDINOUS XANTHOMATOSIS	OMIM	360	pfam00067	4503211,NP_000775
1593	399288	Disease	p.Arg362Cys	606530.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530	CEREBROTENDINOUS XANTHOMATOSIS	OMIM	369	COG2124	4503211,NP_000775
1593	399288	Disease	p.Arg441Gln	606530.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530	CEREBROTENDINOUS XANTHOMATOSIS	OMIM	458	pfam00067	4503211,NP_000775
1593	399288	Disease	p.Arg441Gln	606530.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530	CEREBROTENDINOUS XANTHOMATOSIS	OMIM	457	COG2124	4503211,NP_000775
1593	399288	Disease	p.Arg441Trp	606530.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530	CEREBROTENDINOUS XANTHOMATOSIS	OMIM	458	pfam00067	4503211,NP_000775
1593	399288	Disease	p.Arg441Trp	606530.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530	CEREBROTENDINOUS XANTHOMATOSIS	OMIM	457	COG2124	4503211,NP_000775
1593	399288	Disease	p.Arg372Gln	606530.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530	CEREBROTENDINOUS XANTHOMATOSIS	OMIM	371	pfam00067	4503211,NP_000775
1593	399288	Disease	p.Arg372Gln	606530.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530	CEREBROTENDINOUS XANTHOMATOSIS	OMIM	379	COG2124	4503211,NP_000775
1593	399288	Disease	p.Arg362Ser	606530.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530	CEREBROTENDINOUS XANTHOMATOSIS	OMIM	360	pfam00067	4503211,NP_000775
1593	399288	Disease	p.Arg362Ser	606530.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530	CEREBROTENDINOUS XANTHOMATOSIS	OMIM	369	COG2124	4503211,NP_000775
1593	399288	Disease	p.Arg441Trp	606530.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530	CEREBROTENDINOUS XANTHOMATOSIS	OMIM	458	pfam00067	4503211,NP_000775
1593	399288	Disease	p.Arg441Trp	606530.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530	CEREBROTENDINOUS XANTHOMATOSIS	OMIM	457	COG2124	4503211,NP_000775
1593	399288	Disease	p.Gly112Glu	606530.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530	CEREBROTENDINOUS XANTHOMATOSIS	OMIM	61	pfam00067	4503211,NP_000775
1593	399288	Disease	p.Gly112Glu	606530.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530	CEREBROTENDINOUS XANTHOMATOSIS	OMIM	75	COG2124	4503211,NP_000775
1593	399288	Disease	p.Thr339Met	606530.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530	CEREBROTENDINOUS XANTHOMATOSIS	OMIM	336	pfam00067	4503211,NP_000775
1593	399288	Disease	p.Thr339Met	606530.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530	CEREBROTENDINOUS XANTHOMATOSIS	OMIM	339	COG2124	4503211,NP_000775
1593	399288	Disease	p.Arg479Gly	606530.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530	CEREBROTENDINOUS XANTHOMATOSIS	OMIM	508	pfam00067	4503211,NP_000775
1593	399288	Disease	p.Arg479Gly	606530.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606530	CEREBROTENDINOUS XANTHOMATOSIS	OMIM	515	COG2124	4503211,NP_000775
79083	109826351	Disease	p.Arg35Trp	606526.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606526	GRISCELLI SYNDROME, TYPE 3	OMIM	No Domain	N/A	NULL
79083	32129730	Disease	p.Arg35Trp	606526.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606526	GRISCELLI SYNDROME, TYPE 3	OMIM	No Domain	N/A	13129108,NP_077006
60386	20137652	Disease	p.Gly177Ala	606521.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606521	MICROCEPHALY, AMISH TYPE	OMIM	118	pfam00153	186928858,NP_001119593|186928860,NP_001119594|186928856,NP_068380
60386	20137652	Disease	p.Gly177Ala	606521.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606521	MICROCEPHALY, AMISH TYPE	OMIM	118	pfam00153	186928858,NP_001119593|186928860,NP_001119594|186928856,NP_068380
60386	20137652	Disease	p.Gly177Ala	606521.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606521	MICROCEPHALY, AMISH TYPE	OMIM	118	pfam00153	186928858,NP_001119593|186928860,NP_001119594|186928856,NP_068380
10269	13432136	Disease	p.Trp340Arg	606480.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606480	MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY	OMIM	311	COG0501	18379366,NP_005848
10269	13432136	Disease	p.Trp340Arg	606480.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606480	MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY	OMIM	174	pfam01435	18379366,NP_005848
10269	13432136	Disease	p.Pro248Leu	606480.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606480	MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY	OMIM	252	COG0501	18379366,NP_005848
10269	13432136	Disease	p.Pro248Leu	606480.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606480	MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY	OMIM	60	pfam01435	18379366,NP_005848
55505	54036209	Disease	p.Arg34Trp	606471.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606471	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE	OMIM	41	COG2260	8923942,NP_061118
55505	54036209	Disease	p.Arg34Trp	606471.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606471	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE	OMIM	42	pfam04135	8923942,NP_061118
55651	68565945	Disease	p.Tyr139His	606470.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606470	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE	OMIM	135	COG1358	8923444,NP_060308
55651	77812674	Disease	p.Tyr139His	606470.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606470	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
55651	68565945	Disease	p.Val126Met	606470.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606470	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE	OMIM	98	pfam01248	8923444,NP_060308
55651	68565945	Disease	p.Val126Met	606470.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606470	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE	OMIM	121	COG1358	8923444,NP_060308
55651	77812674	Disease	p.Val126Met	606470.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606470	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
57817	10720397	Disease	p.Gly71Asp	606464.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606464	HEMOCHROMATOSIS, TYPE 2A, MODIFIER OF	OMIM	87	pfam06446	10863973,NP_066998
2629	55584151	Disease	p.Leu444Pro	606463.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE I||PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO||DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO	OMIM	398	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu444Pro	606463.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE I||PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO||DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO	OMIM	406	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu444Pro	606463.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE I||PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO||DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO	OMIM	398	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu444Pro	606463.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE I||PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO||DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO	OMIM	406	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Leu444Pro	606463.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE I||PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO||DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO	OMIM	456	pfam02055	NULL
2629	284807152	Disease	p.Leu444Pro	606463.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE I||PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO||DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO	OMIM	450	COG5520	NULL
2629	55584151	Disease	p.Leu444Pro	606463.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE I||PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO||DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO	OMIM	398	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu444Pro	606463.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE I||PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO||DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO	OMIM	406	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Leu444Pro	606463.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE I||PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO||DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO	OMIM	500	pfam02055	NULL
2629	284807150	Disease	p.Leu444Pro	606463.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE I||PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO||DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO	OMIM	490	COG5520	NULL
2629	55584151	Disease	p.Pro415Arg	606463.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	363	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro415Arg	606463.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	377	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro415Arg	606463.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	363	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro415Arg	606463.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	377	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Pro415Arg	606463.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	426	pfam02055	NULL
2629	284807152	Disease	p.Pro415Arg	606463.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	420	COG5520	NULL
2629	55584151	Disease	p.Pro415Arg	606463.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	363	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro415Arg	606463.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	377	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Pro415Arg	606463.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	465	pfam02055	NULL
2629	284807150	Disease	p.Pro415Arg	606463.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	459	COG5520	NULL
2629	55584151	Disease	p.Asn370Ser	606463.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO||DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO	OMIM	311	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn370Ser	606463.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO||DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO	OMIM	332	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn370Ser	606463.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO||DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO	OMIM	311	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn370Ser	606463.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO||DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO	OMIM	332	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Asn370Ser	606463.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO||DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO	OMIM	381	pfam02055	NULL
2629	284807152	Disease	p.Asn370Ser	606463.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO||DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO	OMIM	367	COG5520	NULL
2629	55584151	Disease	p.Asn370Ser	606463.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO||DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO	OMIM	311	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn370Ser	606463.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO||DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO	OMIM	332	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Asn370Ser	606463.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO||DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO	OMIM	419	pfam02055	NULL
2629	284807150	Disease	p.Asn370Ser	606463.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO||DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO	OMIM	413	COG5520	NULL
2629	55584151	Disease	p.Arg119Gln	606463.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	71	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg119Gln	606463.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	80	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg119Gln	606463.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	71	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg119Gln	606463.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	80	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Arg119Gln	606463.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	129	pfam02055	NULL
2629	284807152	Disease	p.Arg119Gln	606463.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	123	COG5520	NULL
2629	55584151	Disease	p.Arg119Gln	606463.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	71	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg119Gln	606463.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	80	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Arg119Gln	606463.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	167	pfam02055	NULL
2629	284807150	Disease	p.Arg119Gln	606463.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	163	COG5520	NULL
2629	55584151	Disease	p.Val394Leu	606463.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE I	OMIM	333	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val394Leu	606463.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE I	OMIM	356	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val394Leu	606463.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE I	OMIM	333	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val394Leu	606463.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE I	OMIM	356	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Val394Leu	606463.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE I	OMIM	405	pfam02055	NULL
2629	284807152	Disease	p.Val394Leu	606463.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE I	OMIM	397	COG5520	NULL
2629	55584151	Disease	p.Val394Leu	606463.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE I	OMIM	333	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val394Leu	606463.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE I	OMIM	356	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Val394Leu	606463.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE I	OMIM	443	pfam02055	NULL
2629	284807150	Disease	p.Val394Leu	606463.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE I	OMIM	438	COG5520	NULL
2629	55584151	Disease	p.Asp409His	606463.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE IIIC||GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	357	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp409His	606463.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE IIIC||GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	371	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp409His	606463.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE IIIC||GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	357	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp409His	606463.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE IIIC||GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	371	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Asp409His	606463.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE IIIC||GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	420	pfam02055	NULL
2629	284807152	Disease	p.Asp409His	606463.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE IIIC||GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	414	COG5520	NULL
2629	55584151	Disease	p.Asp409His	606463.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE IIIC||GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	357	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp409His	606463.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE IIIC||GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	371	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Asp409His	606463.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE IIIC||GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	459	pfam02055	NULL
2629	284807150	Disease	p.Asp409His	606463.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE IIIC||GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	453	COG5520	NULL
2629	55584151	Disease	p.Asp409Val	606463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III	OMIM	357	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp409Val	606463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III	OMIM	371	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp409Val	606463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III	OMIM	357	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp409Val	606463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III	OMIM	371	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Asp409Val	606463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III	OMIM	420	pfam02055	NULL
2629	284807152	Disease	p.Asp409Val	606463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III	OMIM	414	COG5520	NULL
2629	55584151	Disease	p.Asp409Val	606463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III	OMIM	357	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp409Val	606463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III	OMIM	371	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Asp409Val	606463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III	OMIM	459	pfam02055	NULL
2629	284807150	Disease	p.Asp409Val	606463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III	OMIM	453	COG5520	NULL
2629	55584151	Disease	p.Arg463Cys	606463.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	419	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg463Cys	606463.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	425	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg463Cys	606463.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	419	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg463Cys	606463.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	425	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Arg463Cys	606463.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	478	pfam02055	NULL
2629	284807152	Disease	p.Arg463Cys	606463.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	472	COG5520	NULL
2629	55584151	Disease	p.Arg463Cys	606463.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	419	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg463Cys	606463.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	425	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Arg463Cys	606463.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
2629	55584151	Disease	p.Val460Val	606463.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	416	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val460Val	606463.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	422	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val460Val	606463.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	416	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val460Val	606463.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	422	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Val460Val	606463.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	475	pfam02055	NULL
2629	284807152	Disease	p.Val460Val	606463.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	466	COG5520	NULL
2629	55584151	Disease	p.Val460Val	606463.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	416	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val460Val	606463.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	422	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Val460Val	606463.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, PERINATAL LETHAL	OMIM	No Domain	N/A	NULL
2629	55584151	Disease	p.Phe216Tyr	606463.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	172	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe216Tyr	606463.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	177	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe216Tyr	606463.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	172	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe216Tyr	606463.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	177	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Phe216Tyr	606463.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	226	pfam02055	NULL
2629	284807152	Disease	p.Phe216Tyr	606463.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	220	COG5520	NULL
2629	55584151	Disease	p.Phe216Tyr	606463.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	172	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe216Tyr	606463.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	177	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Phe216Tyr	606463.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	264	pfam02055	NULL
2629	284807150	Disease	p.Phe216Tyr	606463.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	255	COG5520	NULL
2629	55584151	Disease	p.Asp140His	606463.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	93	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp140His	606463.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	101	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp140His	606463.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	93	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp140His	606463.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	101	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Asp140His	606463.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	150	pfam02055	NULL
2629	284807152	Disease	p.Asp140His	606463.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	147	COG5520	NULL
2629	55584151	Disease	p.Asp140His	606463.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	93	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp140His	606463.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	101	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Asp140His	606463.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	188	pfam02055	NULL
2629	284807150	Disease	p.Asp140His	606463.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	183	COG5520	NULL
2629	55584151	Disease	p.Lys157Gln	606463.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	112	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Lys157Gln	606463.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	118	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Lys157Gln	606463.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	112	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Lys157Gln	606463.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	118	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Lys157Gln	606463.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	167	pfam02055	NULL
2629	284807152	Disease	p.Lys157Gln	606463.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	163	COG5520	NULL
2629	55584151	Disease	p.Lys157Gln	606463.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	112	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Lys157Gln	606463.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	118	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Lys157Gln	606463.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	205	pfam02055	NULL
2629	284807150	Disease	p.Lys157Gln	606463.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	200	COG5520	NULL
2629	55584151	Disease	p.Phe213Ile	606463.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE I	OMIM	169	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe213Ile	606463.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE I	OMIM	174	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe213Ile	606463.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE I	OMIM	169	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe213Ile	606463.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE I	OMIM	174	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Phe213Ile	606463.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE I	OMIM	223	pfam02055	NULL
2629	284807152	Disease	p.Phe213Ile	606463.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE I	OMIM	217	COG5520	NULL
2629	55584151	Disease	p.Phe213Ile	606463.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE I	OMIM	169	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe213Ile	606463.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE I	OMIM	174	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Phe213Ile	606463.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE I	OMIM	261	pfam02055	NULL
2629	284807150	Disease	p.Phe213Ile	606463.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III||GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE I	OMIM	252	COG5520	NULL
2629	55584151	Disease	p.Pro289Leu	606463.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	241	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro289Leu	606463.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	250	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro289Leu	606463.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	241	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro289Leu	606463.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	250	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Pro289Leu	606463.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	300	pfam02055	NULL
2629	284807152	Disease	p.Pro289Leu	606463.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	290	COG5520	NULL
2629	55584151	Disease	p.Pro289Leu	606463.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	241	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro289Leu	606463.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	250	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Pro289Leu	606463.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	338	pfam02055	NULL
2629	284807150	Disease	p.Pro289Leu	606463.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	316	COG5520	NULL
2629	55584151	Disease	p.Tyr323Ile	606463.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	275	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr323Ile	606463.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	285	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr323Ile	606463.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	275	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr323Ile	606463.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	285	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Tyr323Ile	606463.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	334	pfam02055	NULL
2629	284807152	Disease	p.Tyr323Ile	606463.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	312_G	COG5520	NULL
2629	55584151	Disease	p.Tyr323Ile	606463.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	275	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr323Ile	606463.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	285	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Tyr323Ile	606463.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	372	pfam02055	NULL
2629	284807150	Disease	p.Tyr323Ile	606463.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	358	COG5520	NULL
2629	55584151	Disease	p.Pro122Ser	606463.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	74	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro122Ser	606463.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	83	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro122Ser	606463.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	74	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro122Ser	606463.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	83	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Pro122Ser	606463.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	132	pfam02055	NULL
2629	284807152	Disease	p.Pro122Ser	606463.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	126	COG5520	NULL
2629	55584151	Disease	p.Pro122Ser	606463.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	74	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro122Ser	606463.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	83	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Pro122Ser	606463.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	170	pfam02055	NULL
2629	284807150	Disease	p.Pro122Ser	606463.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	165	COG5520	NULL
2629	55584151	Disease	p.Tyr212His	606463.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	168	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr212His	606463.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	173	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr212His	606463.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	168	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr212His	606463.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	173	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Tyr212His	606463.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	222	pfam02055	NULL
2629	284807152	Disease	p.Tyr212His	606463.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	216	COG5520	NULL
2629	55584151	Disease	p.Tyr212His	606463.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	168	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr212His	606463.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	173	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Tyr212His	606463.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	260	pfam02055	NULL
2629	284807150	Disease	p.Tyr212His	606463.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	251	COG5520	NULL
2629	55584151	Disease	p.Gly478Ser	606463.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	432	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly478Ser	606463.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	440	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly478Ser	606463.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	432	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly478Ser	606463.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	440	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Gly478Ser	606463.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	496	pfam02055	NULL
2629	284807152	Disease	p.Gly478Ser	606463.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	486	COG5520	NULL
2629	55584151	Disease	p.Gly478Ser	606463.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	432	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly478Ser	606463.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	440	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Gly478Ser	606463.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	No Domain	N/A	NULL
2629	55584151	Disease	p.Arg496His	606463.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	453	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg496His	606463.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	459	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg496His	606463.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	453	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg496His	606463.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	459	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Arg496His	606463.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	No Domain	N/A	NULL
2629	55584151	Disease	p.Arg496His	606463.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	453	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg496His	606463.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	459	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Arg496His	606463.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	No Domain	N/A	NULL
2629	55584151	Disease	p.Val15Leu	606463.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	No Domain	N/A	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val15Leu	606463.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	No Domain	N/A	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Val15Leu	606463.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	6	COG5520	NULL
2629	55584151	Disease	p.Val15Leu	606463.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	No Domain	N/A	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Val15Leu	606463.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	63	pfam02055	NULL
2629	284807150	Disease	p.Val15Leu	606463.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	47	COG5520	NULL
2629	55584151	Disease	p.Gly46Glu	606463.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	7	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly46Glu	606463.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	7	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Gly46Glu	606463.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	7	pfam02055	NULL
2629	284807152	Disease	p.Gly46Glu	606463.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	54_G	COG5520	NULL
2629	55584151	Disease	p.Gly46Glu	606463.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	7	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Gly46Glu	606463.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	94	pfam02055	NULL
2629	284807150	Disease	p.Gly46Glu	606463.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	86	COG5520	NULL
2629	55584151	Disease	p.Asn188Ser	606463.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	146	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn188Ser	606463.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	149	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn188Ser	606463.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	146	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn188Ser	606463.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	149	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Asn188Ser	606463.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	198	pfam02055	NULL
2629	284807152	Disease	p.Asn188Ser	606463.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	196	COG5520	NULL
2629	55584151	Disease	p.Asn188Ser	606463.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	146	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn188Ser	606463.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	149	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Asn188Ser	606463.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	236	pfam02055	NULL
2629	284807150	Disease	p.Asn188Ser	606463.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	230	COG5520	NULL
2629	55584151	Disease	p.Phe216Val	606463.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	172	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe216Val	606463.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	177	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe216Val	606463.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	172	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe216Val	606463.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	177	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Phe216Val	606463.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	226	pfam02055	NULL
2629	284807152	Disease	p.Phe216Val	606463.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	220	COG5520	NULL
2629	55584151	Disease	p.Phe216Val	606463.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	172	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe216Val	606463.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	177	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Phe216Val	606463.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	264	pfam02055	NULL
2629	284807150	Disease	p.Phe216Val	606463.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	255	COG5520	NULL
2629	55584151	Disease	p.Ala309Val	606463.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	261	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala309Val	606463.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	270	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala309Val	606463.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	261	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala309Val	606463.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	270	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Ala309Val	606463.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	320	pfam02055	NULL
2629	284807152	Disease	p.Ala309Val	606463.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	304_G	COG5520	NULL
2629	55584151	Disease	p.Ala309Val	606463.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	261	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala309Val	606463.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	270	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Ala309Val	606463.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	358	pfam02055	NULL
2629	284807150	Disease	p.Ala309Val	606463.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	335	COG5520	NULL
2629	55584151	Disease	p.Trp312Cys	606463.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	264	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Trp312Cys	606463.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	273	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Trp312Cys	606463.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	264	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Trp312Cys	606463.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	273	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Trp312Cys	606463.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	323	pfam02055	NULL
2629	284807152	Disease	p.Trp312Cys	606463.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	304_G	COG5520	NULL
2629	55584151	Disease	p.Trp312Cys	606463.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	264	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Trp312Cys	606463.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	273	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Trp312Cys	606463.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	361	pfam02055	NULL
2629	284807150	Disease	p.Trp312Cys	606463.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	338	COG5520	NULL
2629	55584151	Disease	p.Gly325Arg	606463.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	277	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly325Arg	606463.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	287	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly325Arg	606463.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	277	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly325Arg	606463.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	287	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Gly325Arg	606463.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	336	pfam02055	NULL
2629	284807152	Disease	p.Gly325Arg	606463.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	314	COG5520	NULL
2629	55584151	Disease	p.Gly325Arg	606463.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	277	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly325Arg	606463.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	287	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Gly325Arg	606463.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	374	pfam02055	NULL
2629	284807150	Disease	p.Gly325Arg	606463.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	360	COG5520	NULL
2629	55584151	Disease	p.Cys342Gly	606463.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	294	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Cys342Gly	606463.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	304	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Cys342Gly	606463.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	294	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Cys342Gly	606463.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	304	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Cys342Gly	606463.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	353	pfam02055	NULL
2629	284807152	Disease	p.Cys342Gly	606463.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	330	COG5520	NULL
2629	55584151	Disease	p.Cys342Gly	606463.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	294	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Cys342Gly	606463.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	304	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Cys342Gly	606463.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	391	pfam02055	NULL
2629	284807150	Disease	p.Cys342Gly	606463.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II	OMIM	377	COG5520	NULL
2629	55584151	Disease	p.Ser364Thr	606463.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	305	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ser364Thr	606463.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	326	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ser364Thr	606463.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	305	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ser364Thr	606463.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	326	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Ser364Thr	606463.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	375	pfam02055	NULL
2629	284807152	Disease	p.Ser364Thr	606463.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	361	COG5520	NULL
2629	55584151	Disease	p.Ser364Thr	606463.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	305	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ser364Thr	606463.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	326	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Ser364Thr	606463.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	413	pfam02055	NULL
2629	284807150	Disease	p.Ser364Thr	606463.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	407	COG5520	NULL
2629	55584151	Disease	p.Arg353Gly	606463.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III	OMIM	304_G	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg353Gly	606463.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III	OMIM	315	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg353Gly	606463.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III	OMIM	304_G	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg353Gly	606463.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III	OMIM	315	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Arg353Gly	606463.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III	OMIM	364	pfam02055	NULL
2629	284807152	Disease	p.Arg353Gly	606463.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III	OMIM	350	COG5520	NULL
2629	55584151	Disease	p.Arg353Gly	606463.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III	OMIM	304_G	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg353Gly	606463.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III	OMIM	315	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Arg353Gly	606463.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III	OMIM	402	pfam02055	NULL
2629	284807150	Disease	p.Arg353Gly	606463.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE III	OMIM	394	COG5520	NULL
2629	55584151	Disease	p.Pro401Leu	606463.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	349	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro401Leu	606463.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	363	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro401Leu	606463.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	349	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro401Leu	606463.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	363	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Pro401Leu	606463.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	412	pfam02055	NULL
2629	284807152	Disease	p.Pro401Leu	606463.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	406	COG5520	NULL
2629	55584151	Disease	p.Pro401Leu	606463.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	349	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro401Leu	606463.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	363	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Pro401Leu	606463.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	451	pfam02055	NULL
2629	284807150	Disease	p.Pro401Leu	606463.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	445	COG5520	NULL
2629	55584151	Disease	p.His311Arg	606463.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	263	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.His311Arg	606463.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	272	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.His311Arg	606463.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	263	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.His311Arg	606463.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	272	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.His311Arg	606463.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	322	pfam02055	NULL
2629	284807152	Disease	p.His311Arg	606463.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	304_G	COG5520	NULL
2629	55584151	Disease	p.His311Arg	606463.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	263	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.His311Arg	606463.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	272	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.His311Arg	606463.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	360	pfam02055	NULL
2629	284807150	Disease	p.His311Arg	606463.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	337	COG5520	NULL
2629	55584151	Disease	p.Val398Phe	606463.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	337	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val398Phe	606463.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	360	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val398Phe	606463.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	337	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val398Phe	606463.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	360	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Val398Phe	606463.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	409	pfam02055	NULL
2629	284807152	Disease	p.Val398Phe	606463.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	401	COG5520	NULL
2629	55584151	Disease	p.Val398Phe	606463.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	337	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val398Phe	606463.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	360	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Val398Phe	606463.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	448	pfam02055	NULL
2629	284807150	Disease	p.Val398Phe	606463.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	442	COG5520	NULL
2629	55584151	Disease	p.Gly377Ser	606463.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	317	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly377Ser	606463.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	339	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly377Ser	606463.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	317	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly377Ser	606463.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	339	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Gly377Ser	606463.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	388	pfam02055	NULL
2629	284807152	Disease	p.Gly377Ser	606463.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	374	COG5520	NULL
2629	55584151	Disease	p.Gly377Ser	606463.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	317	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly377Ser	606463.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	339	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Gly377Ser	606463.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	426	pfam02055	NULL
2629	284807150	Disease	p.Gly377Ser	606463.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	420	COG5520	NULL
2629	55584151	Disease	p.Arg257Glu	606463.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	212	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg257Glu	606463.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	218	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg257Glu	606463.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	212	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg257Glu	606463.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	218	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Arg257Glu	606463.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	267	pfam02055	NULL
2629	284807152	Disease	p.Arg257Glu	606463.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	258	COG5520	NULL
2629	55584151	Disease	p.Arg257Glu	606463.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	212	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg257Glu	606463.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	218	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Arg257Glu	606463.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	306	pfam02055	NULL
2629	284807150	Disease	p.Arg257Glu	606463.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	296	COG5520	NULL
2629	55584151	Disease	p.Arg131Leu	606463.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	84	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg131Leu	606463.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	92	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg131Leu	606463.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	84	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg131Leu	606463.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	92	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Arg131Leu	606463.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	141	pfam02055	NULL
2629	284807152	Disease	p.Arg131Leu	606463.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	138	COG5520	NULL
2629	55584151	Disease	p.Arg131Leu	606463.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	84	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg131Leu	606463.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	92	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Arg131Leu	606463.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	179	pfam02055	NULL
2629	284807150	Disease	p.Arg131Leu	606463.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	174	COG5520	NULL
2629	55584151	Disease	p.Lys79Asn	606463.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	27	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Lys79Asn	606463.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	40	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Lys79Asn	606463.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	27	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Lys79Asn	606463.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	40	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Lys79Asn	606463.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	40	pfam02055	NULL
2629	284807152	Disease	p.Lys79Asn	606463.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	89	COG5520	NULL
2629	55584151	Disease	p.Lys79Asn	606463.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	27	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Lys79Asn	606463.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	40	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Lys79Asn	606463.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	127	pfam02055	NULL
2629	284807150	Disease	p.Lys79Asn	606463.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I||GAUCHER DISEASE, TYPE III	OMIM	121	COG5520	NULL
2629	55584151	Disease	p.Phe251Leu	606463.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	206	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe251Leu	606463.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	212	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe251Leu	606463.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	206	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe251Leu	606463.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	212	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Phe251Leu	606463.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	261	pfam02055	NULL
2629	284807152	Disease	p.Phe251Leu	606463.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	252	COG5520	NULL
2629	55584151	Disease	p.Phe251Leu	606463.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	206	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe251Leu	606463.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	212	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Phe251Leu	606463.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	300	pfam02055	NULL
2629	284807150	Disease	p.Phe251Leu	606463.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, PERINATAL LETHAL	OMIM	290	COG5520	NULL
2629	55584151	Disease	p.Leu371Val	606463.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	312	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu371Val	606463.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	333	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu371Val	606463.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	312	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu371Val	606463.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	333	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Leu371Val	606463.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	382	pfam02055	NULL
2629	284807152	Disease	p.Leu371Val	606463.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	368	COG5520	NULL
2629	55584151	Disease	p.Leu371Val	606463.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	312	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu371Val	606463.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	333	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Leu371Val	606463.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	420	pfam02055	NULL
2629	284807150	Disease	p.Leu371Val	606463.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE I	OMIM	414	COG5520	NULL
2629	55584151	Disease	p.His255Gln	606463.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III	OMIM	210	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.His255Gln	606463.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III	OMIM	216	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.His255Gln	606463.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III	OMIM	210	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.His255Gln	606463.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III	OMIM	216	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.His255Gln	606463.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III	OMIM	265	pfam02055	NULL
2629	284807152	Disease	p.His255Gln	606463.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III	OMIM	256	COG5520	NULL
2629	55584151	Disease	p.His255Gln	606463.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III	OMIM	210	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.His255Gln	606463.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III	OMIM	216	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.His255Gln	606463.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III	OMIM	304	pfam02055	NULL
2629	284807150	Disease	p.His255Gln	606463.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	GAUCHER DISEASE, TYPE II||GAUCHER DISEASE, TYPE III	OMIM	294	COG5520	NULL
2629	55584151	Disease	p.Asp443Asn	606463.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	397	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp443Asn	606463.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	405	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp443Asn	606463.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	397	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp443Asn	606463.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	405	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807152	Disease	p.Asp443Asn	606463.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	455	pfam02055	NULL
2629	284807152	Disease	p.Asp443Asn	606463.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	449	COG5520	NULL
2629	55584151	Disease	p.Asp443Asn	606463.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	397	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp443Asn	606463.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	405	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	284807150	Disease	p.Asp443Asn	606463.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	499	pfam02055	NULL
2629	284807150	Disease	p.Asp443Asn	606463.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606463	PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	489	COG5520	NULL
8892	6226858	Disease	p.Glu213Gly	606454.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606454	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER||OVARIOLEUKODYSTROPHY	OMIM	254	pfam01008	7657058,NP_055054
8892	6226858	Disease	p.Glu213Gly	606454.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606454	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER||OVARIOLEUKODYSTROPHY	OMIM	260	COG0182	7657058,NP_055054
8892	6226858	Disease	p.Glu213Gly	606454.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606454	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER||OVARIOLEUKODYSTROPHY	OMIM	256	COG1184	7657058,NP_055054
8892	6226858	Disease	p.Val316Asp	606454.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606454	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	428	pfam01008	7657058,NP_055054
8892	6226858	Disease	p.Val316Asp	606454.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606454	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	391	COG0182	7657058,NP_055054
8892	6226858	Disease	p.Val316Asp	606454.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606454	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	427	COG1184	7657058,NP_055054
8892	6226858	Disease	p.Ser171Phe	606454.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606454	OVARIOLEUKODYSTROPHY	OMIM	183	pfam01008	7657058,NP_055054
8892	6226858	Disease	p.Ser171Phe	606454.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606454	OVARIOLEUKODYSTROPHY	OMIM	192	COG0182	7657058,NP_055054
8892	6226858	Disease	p.Ser171Phe	606454.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606454	OVARIOLEUKODYSTROPHY	OMIM	209	COG1184	7657058,NP_055054
27429	17376879	Disease	p.Gly399Ser	606441.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606441	PARKINSON DISEASE 13, AUTOSOMAL DOMINANT	OMIM	60	cd00136	7019477,NP_037379
27429	17376879	Disease	p.Gly399Ser	606441.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606441	PARKINSON DISEASE 13, AUTOSOMAL DOMINANT	OMIM	629	COG0265	7019477,NP_037379
27429	17376879	Disease	p.Gly399Ser	606441.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606441	PARKINSON DISEASE 13, AUTOSOMAL DOMINANT	OMIM	39	cd00988	7019477,NP_037379
27429	17376879	Disease	p.Gly399Ser	606441.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606441	PARKINSON DISEASE 13, AUTOSOMAL DOMINANT	OMIM	146	smart00228	7019477,NP_037379
27429	17376879	Disease	p.Gly399Ser	606441.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606441	PARKINSON DISEASE 13, AUTOSOMAL DOMINANT	OMIM	44	cd00987	7019477,NP_037379
27429	17376879	Disease	p.Gly399Ser	606441.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606441	PARKINSON DISEASE 13, AUTOSOMAL DOMINANT	OMIM	128	cd00992	7019477,NP_037379
27429	17376879	Disease	p.Gly399Ser	606441.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606441	PARKINSON DISEASE 13, AUTOSOMAL DOMINANT	OMIM	28	cd00989	7019477,NP_037379
27429	21614538	Disease	p.Gly399Ser	606441.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606441	PARKINSON DISEASE 13, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
27429	17376879	Disease	p.Ala141Ser	606441.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606441	PARKINSON DISEASE 13, SUSCEPTIBILITY TO	OMIM	57	COG0265	7019477,NP_037379
27429	21614538	Disease	p.Ala141Ser	606441.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606441	PARKINSON DISEASE 13, SUSCEPTIBILITY TO	OMIM	57	COG0265	NULL
51062	189181742	Disease	p.Arg239Cys	606439.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	297	cd01851	NULL
51062	189181742	Disease	p.Arg239Cys	606439.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	223	pfam02263	NULL
51062	37999727	Disease	p.Arg239Cys	606439.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	297	cd01851	19923445,NP_056999
51062	37999727	Disease	p.Arg239Cys	606439.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	223	pfam02263	19923445,NP_056999
51062	74024917	Disease	p.Arg239Cys	606439.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	297	cd01851	NULL
51062	74024917	Disease	p.Arg239Cys	606439.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	223	pfam02263	NULL
51062	189181742	Disease	p.Ser259Tyr	606439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	317	cd01851	NULL
51062	189181742	Disease	p.Ser259Tyr	606439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	246	pfam02263	NULL
51062	37999727	Disease	p.Ser259Tyr	606439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	317	cd01851	19923445,NP_056999
51062	37999727	Disease	p.Ser259Tyr	606439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	246	pfam02263	19923445,NP_056999
51062	74024917	Disease	p.Ser259Tyr	606439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	317	cd01851	NULL
51062	74024917	Disease	p.Ser259Tyr	606439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	246	pfam02263	NULL
51062	189181742	Disease	p.His258Arg	606439.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	316	cd01851	NULL
51062	189181742	Disease	p.His258Arg	606439.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	245	pfam02263	NULL
51062	37999727	Disease	p.His258Arg	606439.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	316	cd01851	19923445,NP_056999
51062	37999727	Disease	p.His258Arg	606439.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	245	pfam02263	19923445,NP_056999
51062	74024917	Disease	p.His258Arg	606439.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	316	cd01851	NULL
51062	74024917	Disease	p.His258Arg	606439.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	245	pfam02263	NULL
51062	189181742	Disease	p.Arg217Gln	606439.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	244	cd01851	NULL
51062	189181742	Disease	p.Arg217Gln	606439.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	201	pfam02263	NULL
51062	37999727	Disease	p.Arg217Gln	606439.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	244	cd01851	19923445,NP_056999
51062	37999727	Disease	p.Arg217Gln	606439.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	201	pfam02263	19923445,NP_056999
51062	74024917	Disease	p.Arg217Gln	606439.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	244	cd01851	NULL
51062	74024917	Disease	p.Arg217Gln	606439.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	201	pfam02263	NULL
51062	189181742	Disease	p.Met408Val	606439.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
51062	37999727	Disease	p.Met408Val	606439.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	19923445,NP_056999
51062	74024917	Disease	p.Met408Val	606439.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
51062	189181742	Disease	p.Arg415Trp	606439.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
51062	37999727	Disease	p.Arg415Trp	606439.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	19923445,NP_056999
51062	74024917	Disease	p.Arg415Trp	606439.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
51062	189181742	Disease	p.Leu157Trp	606439.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	129	cd01851	NULL
51062	189181742	Disease	p.Leu157Trp	606439.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	127	pfam02263	NULL
51062	37999727	Disease	p.Leu157Trp	606439.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	129	cd01851	19923445,NP_056999
51062	37999727	Disease	p.Leu157Trp	606439.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	127	pfam02263	19923445,NP_056999
51062	74024917	Disease	p.Leu157Trp	606439.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	129	cd01851	NULL
51062	74024917	Disease	p.Leu157Trp	606439.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606439	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	OMIM	127	pfam02263	NULL
54583	32129514	Disease	p.Pro317Arg	606425.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606425	ERYTHROCYTOSIS, FAMILIAL, 3	OMIM	220	smart00702	13489073,NP_071334
54583	32129514	Disease	p.Pro317Arg	606425.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606425	ERYTHROCYTOSIS, FAMILIAL, 3	OMIM	61	pfam03171	13489073,NP_071334
54583	32129514	Disease	p.Pro317Arg	606425.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606425	ERYTHROCYTOSIS, FAMILIAL, 3	OMIM	236	COG3751	13489073,NP_071334
54583	32129514	Disease	p.Arg371His	606425.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606425	ERYTHROCYTOSIS, FAMILIAL, 3	OMIM	403	smart00702	13489073,NP_071334
54583	32129514	Disease	p.Arg371His	606425.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606425	ERYTHROCYTOSIS, FAMILIAL, 3	OMIM	148	pfam03171	13489073,NP_071334
54583	32129514	Disease	p.Arg371His	606425.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606425	ERYTHROCYTOSIS, FAMILIAL, 3	OMIM	301	COG3751	13489073,NP_071334
54583	32129514	Disease	p.His374Arg	606425.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606425	ERYTHROCYTOSIS, FAMILIAL, 3	OMIM	406	smart00702	13489073,NP_071334
54583	32129514	Disease	p.His374Arg	606425.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606425	ERYTHROCYTOSIS, FAMILIAL, 3	OMIM	151	pfam03171	13489073,NP_071334
54583	32129514	Disease	p.His374Arg	606425.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606425	ERYTHROCYTOSIS, FAMILIAL, 3	OMIM	305	COG3751	13489073,NP_071334
26121	90101442	Disease	p.Ala216Pro	606419.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606419	RETINITIS PIGMENTOSA 11	OMIM	259	COG1498	221136939,NP_056444
26121	90101442	Disease	p.Ala216Pro	606419.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606419	RETINITIS PIGMENTOSA 11	OMIM	31	pfam01798	221136939,NP_056444
26121	90101442	Disease	p.Ala194Glu	606419.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606419	RETINITIS PIGMENTOSA 11	OMIM	237	COG1498	221136939,NP_056444
26121	90101442	Disease	p.Ala194Glu	606419.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606419	RETINITIS PIGMENTOSA 11	OMIM	9	pfam01798	221136939,NP_056444
1718	20141421	Disease	p.Tyr471Ser	606418.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606418	DESMOSTEROLOSIS	OMIM	No Domain	N/A	13375618,NP_055577
1718	20141421	Disease	p.Asn294Thr	606418.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606418	DESMOSTEROLOSIS	OMIM	No Domain	N/A	13375618,NP_055577
1718	20141421	Disease	p.Glu191Lys	606418.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606418	DESMOSTEROLOSIS	OMIM	173	pfam01565	13375618,NP_055577
114548	262527566	Disease	p.Ala439Val	606416.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	188536116	Disease	p.Ala439Val	606416.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	No Domain	N/A	NULL
114548	34878690	Disease	p.Ala439Val	606416.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	No Domain	N/A	NULL
114548	262527566	Disease	p.Ala439Val	606416.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	188536002	Disease	p.Ala439Val	606416.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	No Domain	N/A	NULL
114548	262527566	Disease	p.Val198Met	606416.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	188536116	Disease	p.Val198Met	606416.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	No Domain	N/A	NULL
114548	34878690	Disease	p.Val198Met	606416.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	No Domain	N/A	NULL
114548	262527566	Disease	p.Val198Met	606416.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	188536002	Disease	p.Val198Met	606416.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	No Domain	N/A	NULL
114548	262527566	Disease	p.Glu627Gly	606416.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	63	cd00116	34878693,NP_004886|119395764,NP_001073289
114548	188536116	Disease	p.Glu627Gly	606416.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	63	cd00116	NULL
114548	34878690	Disease	p.Glu627Gly	606416.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	63	cd00116	NULL
114548	262527566	Disease	p.Glu627Gly	606416.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	63	cd00116	34878693,NP_004886|119395764,NP_001073289
114548	188536002	Disease	p.Glu627Gly	606416.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	63	cd00116	NULL
114548	262527566	Disease	p.Ala352Val	606416.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	MUCKLE-WELLS SYNDROME	OMIM	174	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	188536116	Disease	p.Ala352Val	606416.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	MUCKLE-WELLS SYNDROME	OMIM	174	pfam05729	NULL
114548	34878690	Disease	p.Ala352Val	606416.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	MUCKLE-WELLS SYNDROME	OMIM	174	pfam05729	NULL
114548	262527566	Disease	p.Ala352Val	606416.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	MUCKLE-WELLS SYNDROME	OMIM	174	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	188536002	Disease	p.Ala352Val	606416.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	MUCKLE-WELLS SYNDROME	OMIM	174	pfam05729	NULL
114548	262527566	Disease	p.Arg260Trp	606416.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	MUCKLE-WELLS SYNDROME||FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	45	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	188536116	Disease	p.Arg260Trp	606416.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	MUCKLE-WELLS SYNDROME||FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	45	pfam05729	NULL
114548	34878690	Disease	p.Arg260Trp	606416.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	MUCKLE-WELLS SYNDROME||FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	45	pfam05729	NULL
114548	262527566	Disease	p.Arg260Trp	606416.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	MUCKLE-WELLS SYNDROME||FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	45	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	188536002	Disease	p.Arg260Trp	606416.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	MUCKLE-WELLS SYNDROME||FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	45	pfam05729	NULL
114548	262527566	Disease	p.Gly569Arg	606416.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	MUCKLE-WELLS SYNDROME	OMIM	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	188536116	Disease	p.Gly569Arg	606416.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	MUCKLE-WELLS SYNDROME	OMIM	No Domain	N/A	NULL
114548	34878690	Disease	p.Gly569Arg	606416.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	MUCKLE-WELLS SYNDROME	OMIM	No Domain	N/A	NULL
114548	262527566	Disease	p.Gly569Arg	606416.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	MUCKLE-WELLS SYNDROME	OMIM	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	188536002	Disease	p.Gly569Arg	606416.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	MUCKLE-WELLS SYNDROME	OMIM	No Domain	N/A	NULL
114548	262527566	Disease	p.Phe573Ser	606416.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	CINCA SYNDROME	OMIM	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	188536116	Disease	p.Phe573Ser	606416.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	CINCA SYNDROME	OMIM	No Domain	N/A	NULL
114548	34878690	Disease	p.Phe573Ser	606416.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	CINCA SYNDROME	OMIM	No Domain	N/A	NULL
114548	262527566	Disease	p.Phe573Ser	606416.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	CINCA SYNDROME	OMIM	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	188536002	Disease	p.Phe573Ser	606416.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	CINCA SYNDROME	OMIM	No Domain	N/A	NULL
114548	262527566	Disease	p.Asp303Asn	606416.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	CINCA SYNDROME||MUCKLE-WELLS SYNDROME	OMIM	125	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	188536116	Disease	p.Asp303Asn	606416.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	CINCA SYNDROME||MUCKLE-WELLS SYNDROME	OMIM	125	pfam05729	NULL
114548	34878690	Disease	p.Asp303Asn	606416.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	CINCA SYNDROME||MUCKLE-WELLS SYNDROME	OMIM	125	pfam05729	NULL
114548	262527566	Disease	p.Asp303Asn	606416.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	CINCA SYNDROME||MUCKLE-WELLS SYNDROME	OMIM	125	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	188536002	Disease	p.Asp303Asn	606416.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	CINCA SYNDROME||MUCKLE-WELLS SYNDROME	OMIM	125	pfam05729	NULL
114548	262527566	Disease	p.Phe309Ser	606416.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	CINCA SYNDROME	OMIM	131	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	188536116	Disease	p.Phe309Ser	606416.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	CINCA SYNDROME	OMIM	131	pfam05729	NULL
114548	34878690	Disease	p.Phe309Ser	606416.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	CINCA SYNDROME	OMIM	131	pfam05729	NULL
114548	262527566	Disease	p.Phe309Ser	606416.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	CINCA SYNDROME	OMIM	131	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	188536002	Disease	p.Phe309Ser	606416.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	CINCA SYNDROME	OMIM	131	pfam05729	NULL
114548	262527566	Disease	p.Leu353Pro	606416.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	175	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	188536116	Disease	p.Leu353Pro	606416.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	175	pfam05729	NULL
114548	34878690	Disease	p.Leu353Pro	606416.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	175	pfam05729	NULL
114548	262527566	Disease	p.Leu353Pro	606416.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	175	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	188536002	Disease	p.Leu353Pro	606416.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606416	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1	OMIM	175	pfam05729	NULL
7809	54035724	Disease	p.Met1Leu	606412.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606412	BARTTER SYNDROME, TYPE 4A	OMIM	No Domain	N/A	17017967,NP_476517
7809	54035724	Disease	p.Arg8Trp	606412.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606412	BARTTER SYNDROME, TYPE 4A	OMIM	No Domain	N/A	17017967,NP_476517
7809	54035724	Disease	p.Met1Ile	606412.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606412	BARTTER SYNDROME, TYPE 4A	OMIM	No Domain	N/A	17017967,NP_476517
7809	54035724	Disease	p.Gly10Ser	606412.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606412	BARTTER SYNDROME, TYPE 4A	OMIM	No Domain	N/A	17017967,NP_476517
7809	54035724	Disease	p.Arg8Leu	606412.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606412	BARTTER SYNDROME, TYPE 4A	OMIM	No Domain	N/A	17017967,NP_476517
7809	54035724	Disease	p.Gly47Arg	606412.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606412	BARTTER SYNDROME, TYPE 4A	OMIM	No Domain	N/A	17017967,NP_476517
7809	54035724	Disease	p.Ile12Thr	606412.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606412	SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION	OMIM	No Domain	N/A	17017967,NP_476517
84168	16933551	Disease	p.Ala326Thr	606410.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606410	HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
84168	17366074	Disease	p.Ala326Thr	606410.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606410	HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	14149904,NP_115584
84168	16933553	Disease	p.Ala326Thr	606410.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606410	HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
646951	206557961	Disease	p.Met120Lys	606397.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606397	USHER SYNDROME, TYPE III	OMIM	No Domain	N/A	239748273,XP_946192|239742174,XP_935009|239753703,XP_001717407
646951	206557961	Disease	p.Met120Lys	606397.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606397	USHER SYNDROME, TYPE III	OMIM	No Domain	N/A	239748273,XP_946192|239742174,XP_935009|239753703,XP_001717407
646951	206557961	Disease	p.Met120Lys	606397.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606397	USHER SYNDROME, TYPE III	OMIM	No Domain	N/A	239748273,XP_946192|239742174,XP_935009|239753703,XP_001717407
646951	206557961	Disease	p.Asn48Lys	606397.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606397	USHER SYNDROME, TYPE III	OMIM	No Domain	N/A	239748273,XP_946192|239742174,XP_935009|239753703,XP_001717407
646951	206557961	Disease	p.Asn48Lys	606397.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606397	USHER SYNDROME, TYPE III	OMIM	No Domain	N/A	239748273,XP_946192|239742174,XP_935009|239753703,XP_001717407
646951	206557961	Disease	p.Asn48Lys	606397.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606397	USHER SYNDROME, TYPE III	OMIM	No Domain	N/A	239748273,XP_946192|239742174,XP_935009|239753703,XP_001717407
646951	206557961	Disease	p.Leu150Pro	606397.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606397	USHER SYNDROME, TYPE III	OMIM	No Domain	N/A	239748273,XP_946192|239742174,XP_935009|239753703,XP_001717407
646951	206557961	Disease	p.Leu150Pro	606397.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606397	USHER SYNDROME, TYPE III	OMIM	No Domain	N/A	239748273,XP_946192|239742174,XP_935009|239753703,XP_001717407
646951	206557961	Disease	p.Leu150Pro	606397.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606397	USHER SYNDROME, TYPE III	OMIM	No Domain	N/A	239748273,XP_946192|239742174,XP_935009|239753703,XP_001717407
646951	206557961	Disease	p.Cys40Gly	606397.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606397	USHER SYNDROME, TYPE III	OMIM	No Domain	N/A	239748273,XP_946192|239742174,XP_935009|239753703,XP_001717407
646951	206557961	Disease	p.Cys40Gly	606397.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606397	USHER SYNDROME, TYPE III	OMIM	No Domain	N/A	239748273,XP_946192|239742174,XP_935009|239753703,XP_001717407
646951	206557961	Disease	p.Cys40Gly	606397.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606397	USHER SYNDROME, TYPE III	OMIM	No Domain	N/A	239748273,XP_946192|239742174,XP_935009|239753703,XP_001717407
116519	60391728	Disease	p.Gly185Cys	606368.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606368	HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO	OMIM	153	pfam01442	262231737,NP_001160070|63079709,NP_443200
116519	60391728	Disease	p.Gly185Cys	606368.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606368	HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO	OMIM	153	pfam01442	262231737,NP_001160070|63079709,NP_443200
116519	60391728	Disease	p.Ser19Trp	606368.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606368	HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	262231737,NP_001160070|63079709,NP_443200
116519	60391728	Disease	p.Ser19Trp	606368.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606368	HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	262231737,NP_001160070|63079709,NP_443200
57679	296434394	Disease	p.Cys156Tyr	606352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606352	SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING	OMIM	79	pfam00415	40316935,NP_065970
57679	209364523	Disease	p.Cys156Tyr	606352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606352	SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING	OMIM	79	pfam00415	NULL
83715	189037868	Disease	p.Ser719Arg	606351.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606351	DEAFNESS, WITHOUT VESTIBULAR INVOLVEMENT, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	110431370,NP_113663
83715	189037868	Disease	p.Asp744Asn	606351.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606351	DEAFNESS, WITHOUT VESTIBULAR INVOLVEMENT, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	110431370,NP_113663
83715	189037868	Disease	p.Arg774Gln	606351.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606351	DEAFNESS, WITHOUT VESTIBULAR INVOLVEMENT, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	110431370,NP_113663
54840	48428038	Disease	p.Pro32Leu	606350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	305410829,NP_001182177
54840	305410831	Disease	p.Pro32Leu	606350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	305410835	Disease	p.Pro32Leu	606350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	307746921	Disease	p.Pro32Leu	606350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	305410837	Disease	p.Pro32Leu	606350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	28329430	Disease	p.Pro32Leu	606350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	305410833	Disease	p.Pro32Leu	606350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	28329436	Disease	p.Pro32Leu	606350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	48428038	Disease	p.Val89Gly	606350.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	305410829,NP_001182177
54840	305410831	Disease	p.Val89Gly	606350.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	305410835	Disease	p.Val89Gly	606350.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	307746921	Disease	p.Val89Gly	606350.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	305410837	Disease	p.Val89Gly	606350.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	28329430	Disease	p.Val89Gly	606350.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	305410833	Disease	p.Val89Gly	606350.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	28329436	Disease	p.Val89Gly	606350.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	48428038	Disease	p.His27Arg	606350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	305410829,NP_001182177
54840	305410831	Disease	p.His27Arg	606350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	305410835	Disease	p.His27Arg	606350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	307746921	Disease	p.His27Arg	606350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	305410837	Disease	p.His27Arg	606350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	28329430	Disease	p.His27Arg	606350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	305410833	Disease	p.His27Arg	606350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	28329436	Disease	p.His27Arg	606350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	OMIM	No Domain	N/A	NULL
54840	48428038	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	125	pfam11969	305410829,NP_001182177
54840	48428038	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	48	cd01278	305410829,NP_001182177
54840	48428038	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	37	pfam01230	305410829,NP_001182177
54840	48428038	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	44	cd01276	305410829,NP_001182177
54840	48428038	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	50	cd00468	305410829,NP_001182177
54840	305410831	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	57	pfam01230	NULL
54840	305410831	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	71	cd00468	NULL
54840	305410831	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	62	cd01276	NULL
54840	305410831	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	64	cd01278	NULL
54840	305410831	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	152	pfam11969	NULL
54840	305410835	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	57	pfam01230	NULL
54840	305410835	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	71	cd00468	NULL
54840	305410835	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	62	cd01276	NULL
54840	305410835	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	64	cd01278	NULL
54840	305410835	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	152	pfam11969	NULL
54840	307746921	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	229	pfam11969	NULL
54840	305410837	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	No Domain	N/A	NULL
54840	28329430	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	125	pfam11969	NULL
54840	28329430	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	48	cd01278	NULL
54840	28329430	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	37	pfam01230	NULL
54840	28329430	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	44	cd01276	NULL
54840	28329430	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	50	cd00468	NULL
54840	305410833	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	215	pfam11969	NULL
54840	305410833	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	113	cd01278	NULL
54840	305410833	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	121	pfam01230	NULL
54840	305410833	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	112	cd00468	NULL
54840	305410833	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	110	cd01276	NULL
54840	28329436	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	57	pfam01230	NULL
54840	28329436	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	71	cd00468	NULL
54840	28329436	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	62	cd01276	NULL
54840	28329436	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	64	cd01278	NULL
54840	28329436	Disease	p.Leu223Pro	606350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606350	ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	OMIM	152	pfam11969	NULL
9051	74739557	Disease	p.Glu250Gln	606347.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	256	cd07655	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	606347.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	232	cd07673	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	606347.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	260	cd07651	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	606347.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	280	cd07610	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	606347.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	225	cd07674	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	606347.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	233	cd07649	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	606347.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	236	cd07672	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	606347.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	250	cd07647	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	606347.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	251	cd07681	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	606347.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	251	cd07679	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	606347.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	237	cd07671	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	606347.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	229	cd07648	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	606347.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	235	cd07655	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	606347.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	212	cd07673	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	606347.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	240	cd07651	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	606347.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	260	cd07610	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	606347.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	205	cd07674	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	606347.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	210	cd07649	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	606347.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	216	cd07672	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	606347.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	230	cd07647	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	606347.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	244	cd07658	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	606347.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	230	cd07681	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	606347.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	230	cd07679	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	606347.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	217	cd07671	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	606347.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606347	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	OMIM	209	cd07648	20149528,NP_003969
4990	115502450	Disease	p.Thr165Ala	606326.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606326	MICROPHTHALMIA, ISOLATED, WITH CATARACT 2	OMIM	56	smart00389	186910311,NP_031400
4990	115502450	Disease	p.Thr165Ala	606326.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606326	MICROPHTHALMIA, ISOLATED, WITH CATARACT 2	OMIM	42	pfam00046	186910311,NP_031400
4990	115502450	Disease	p.Thr165Ala	606326.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606326	MICROPHTHALMIA, ISOLATED, WITH CATARACT 2	OMIM	48	cd00086	186910311,NP_031400
8891	18203317	Disease	p.Arg225Gln	606273.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	304	COG1208	9966779,NP_065098
8891	18203317	Disease	p.Arg225Gln	606273.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	335	cd04181	9966779,NP_065098
8891	262205273	Disease	p.Arg225Gln	606273.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	304	COG1208	NULL
8891	262205273	Disease	p.Arg225Gln	606273.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	335	cd04181	NULL
8891	18203317	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	109	pfam00483	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	91	cd06422	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	93	COG1213	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	90	cd06425	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	157	cd02507	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	157	cd04198	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	108	cd02503	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	78	COG2266	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	104	cd04197	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	87	cd04189	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	120	cd04182	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	181	COG1209	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	148	COG1208	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	84	cd06426	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	90	cd06915	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	101	cd02523	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	148	cd04181	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	95	cd02540	9966779,NP_065098
8891	262205273	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	109	pfam00483	NULL
8891	262205273	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	91	cd06422	NULL
8891	262205273	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	93	COG1213	NULL
8891	262205273	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	90	cd06425	NULL
8891	262205273	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	157	cd02507	NULL
8891	262205273	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	157	cd04198	NULL
8891	262205273	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	108	cd02503	NULL
8891	262205273	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	78	COG2266	NULL
8891	262205273	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	104	cd04197	NULL
8891	262205273	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	87	cd04189	NULL
8891	262205273	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	120	cd04182	NULL
8891	262205273	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	181	COG1209	NULL
8891	262205273	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	148	COG1208	NULL
8891	262205273	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	84	cd06426	NULL
8891	262205273	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	90	cd06915	NULL
8891	262205273	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	101	cd02523	NULL
8891	262205273	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	148	cd04181	NULL
8891	262205273	Disease	p.Ala87Val	606273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	95	cd02540	NULL
8891	18203317	Disease	p.Ile346Thr	606273.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	424	COG1208	9966779,NP_065098
8891	262205273	Disease	p.Ile346Thr	606273.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606273	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	424	COG1208	NULL
1497	269849555	Disease	p.Gly169Asp	606272.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606272	CYSTINOSIS, NEPHROPATHIC	OMIM	31	smart00679	119943110,NP_004928
1497	269849555	Disease	p.Gly169Asp	606272.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606272	CYSTINOSIS, NEPHROPATHIC	OMIM	46	pfam04193	119943110,NP_004928
1497	119943118	Disease	p.Gly169Asp	606272.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606272	CYSTINOSIS, NEPHROPATHIC	OMIM	31	smart00679	NULL
1497	119943118	Disease	p.Gly169Asp	606272.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606272	CYSTINOSIS, NEPHROPATHIC	OMIM	46	pfam04193	NULL
1497	269849555	Disease	p.Val42Ile	606272.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606272	CYSTINOSIS, ATYPICAL NEPHROPATHIC	OMIM	No Domain	N/A	119943110,NP_004928
1497	119943118	Disease	p.Val42Ile	606272.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606272	CYSTINOSIS, ATYPICAL NEPHROPATHIC	OMIM	No Domain	N/A	NULL
1497	269849555	Disease	p.Gly197Arg	606272.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606272	CYSTINOSIS, OCULAR NONNEPHROPATHIC	OMIM	No Domain	N/A	119943110,NP_004928
1497	119943118	Disease	p.Gly197Arg	606272.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606272	CYSTINOSIS, OCULAR NONNEPHROPATHIC	OMIM	No Domain	N/A	NULL
1497	269849555	Disease	p.Gly339Arg	606272.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606272	CYSTINOSIS, NEPHROPATHIC	OMIM	No Domain	N/A	119943110,NP_004928
1497	119943118	Disease	p.Gly339Arg	606272.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606272	CYSTINOSIS, NEPHROPATHIC	OMIM	No Domain	N/A	NULL
1497	269849555	Disease	p.Asn323Lys	606272.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606272	CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE	OMIM	61	pfam04193	119943110,NP_004928
1497	119943118	Disease	p.Asn323Lys	606272.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606272	CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE	OMIM	61	pfam04193	NULL
1497	269849555	Disease	p.Gly110Val	606272.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606272	CYSTINOSIS, ATYPICAL NEPHROPATHIC	OMIM	No Domain	N/A	119943110,NP_004928
1497	119943118	Disease	p.Gly110Val	606272.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606272	CYSTINOSIS, ATYPICAL NEPHROPATHIC	OMIM	No Domain	N/A	NULL
1497	269849555	Disease	p.Ser139Phe	606272.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606272	CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE||CYSTINOSIS, ATYPICAL NEPHROPATHIC	OMIM	14	pfam04193	119943110,NP_004928
1497	119943118	Disease	p.Ser139Phe	606272.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606272	CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE||CYSTINOSIS, ATYPICAL NEPHROPATHIC	OMIM	14	pfam04193	NULL
80326	14424011	Disease	p.Phe228Ile	606268.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606268	ODONTOONYCHODERMAL DYSPLASIA	OMIM	303	pfam00110	16936520,NP_079492
80326	14424011	Disease	p.Phe228Ile	606268.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606268	ODONTOONYCHODERMAL DYSPLASIA	OMIM	169	smart00097	16936520,NP_079492
80326	14424011	Disease	p.Arg128Gln	606268.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606268	ODONTOONYCHODERMAL DYSPLASIA	OMIM	157	pfam00110	16936520,NP_079492
80326	14424011	Disease	p.Arg128Gln	606268.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606268	ODONTOONYCHODERMAL DYSPLASIA	OMIM	74	smart00097	16936520,NP_079492
114609	22547219	Disease	p.Ser180Leu	606252.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606252	INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST||BACTEREMIA, PROTECTION AGAINST||MALARIA, RESISTANCE TO||MYCOBACTERIUM TUBERCULOSIS, PROTECTION AGAINST	OMIM	No Domain	N/A	NULL
114609	50403750	Disease	p.Ser180Leu	606252.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606252	INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST||BACTEREMIA, PROTECTION AGAINST||MALARIA, RESISTANCE TO||MYCOBACTERIUM TUBERCULOSIS, PROTECTION AGAINST	OMIM	No Domain	N/A	89111122,NP_001034750
83552	74717666	Disease	p.Ile182Thr	606227.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606227	NANOPHTHALMOS 2	OMIM	68	smart00042	13899255,NP_113621
83552	74717666	Disease	p.Ile182Thr	606227.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606227	NANOPHTHALMOS 2	OMIM	77	cd00041	13899255,NP_113621
83552	74717666	Disease	p.Ile182Thr	606227.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606227	NANOPHTHALMOS 2	OMIM	47	pfam00431	13899255,NP_113621
51251	70608211	Disease	p.Asp98Val	606224.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606224	HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY	OMIM	49	pfam05822	NULL
51251	117949804	Disease	p.Asp98Val	606224.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606224	HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY	OMIM	8	pfam05822	70608082,NP_001002010
51251	260763926	Disease	p.Asp98Val	606224.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606224	HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY	OMIM	61	pfam05822	NULL
51251	70608211	Disease	p.Asn190Ser	606224.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606224	HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY	OMIM	142	pfam05822	NULL
51251	117949804	Disease	p.Asn190Ser	606224.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606224	HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY	OMIM	102	pfam05822	70608082,NP_001002010
51251	260763926	Disease	p.Asn190Ser	606224.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606224	HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY	OMIM	154	pfam05822	NULL
51251	70608211	Disease	p.Gly241Arg	606224.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606224	HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY	OMIM	207	pfam05822	NULL
51251	117949804	Disease	p.Gly241Arg	606224.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606224	HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY	OMIM	154	pfam05822	70608082,NP_001002010
51251	260763926	Disease	p.Gly241Arg	606224.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606224	HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY	OMIM	225	pfam05822	NULL
57190	47578099	Disease	p.Gly273Glu	606210.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606210	RIGID SPINE MUSCULAR DYSTROPHY 1	OMIM	No Domain	N/A	NULL
57190	47578101	Disease	p.Gly273Glu	606210.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606210	RIGID SPINE MUSCULAR DYSTROPHY 1	OMIM	No Domain	N/A	NULL
57190	47578099	Disease	p.Met1Val	606210.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606210	RIGID SPINE MUSCULAR DYSTROPHY 1	OMIM	No Domain	N/A	NULL
57190	47578101	Disease	p.Met1Val	606210.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606210	RIGID SPINE MUSCULAR DYSTROPHY 1	OMIM	No Domain	N/A	NULL
57190	47578099	Disease	p.Arg466Gln	606210.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606210	RIGID SPINE MUSCULAR DYSTROPHY 1	OMIM	No Domain	N/A	NULL
57190	47578101	Disease	p.Arg466Gln	606210.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606210	RIGID SPINE MUSCULAR DYSTROPHY 1	OMIM	No Domain	N/A	NULL
57190	47578099	Disease	p.Trp453Ser	606210.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606210	RIGID SPINE MUSCULAR DYSTROPHY 1	OMIM	No Domain	N/A	NULL
57190	47578101	Disease	p.Trp453Ser	606210.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606210	RIGID SPINE MUSCULAR DYSTROPHY 1	OMIM	No Domain	N/A	NULL
57190	47578099	Disease	p.Gly315Ser	606210.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606210	RIGID SPINE MUSCULAR DYSTROPHY 1||MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	No Domain	N/A	NULL
57190	47578101	Disease	p.Gly315Ser	606210.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606210	RIGID SPINE MUSCULAR DYSTROPHY 1||MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	No Domain	N/A	NULL
51151	61636000	Disease	p.Leu361Pro	606202.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606202	OCULOCUTANEOUS ALBINISM, TYPE IV	OMIM	No Domain	N/A	NULL
51151	61635915	Disease	p.Leu361Pro	606202.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606202	OCULOCUTANEOUS ALBINISM, TYPE IV	OMIM	548	cd06174	NULL
51151	61636000	Disease	p.Ala486Val	606202.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606202	OCULOCUTANEOUS ALBINISM, TYPE IV	OMIM	No Domain	N/A	NULL
51151	61635915	Disease	p.Ala486Val	606202.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606202	OCULOCUTANEOUS ALBINISM, TYPE IV	OMIM	811	cd06174	NULL
51151	61636000	Disease	p.Asp157Asn	606202.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606202	OCULOCUTANEOUS ALBINISM, TYPE IV	OMIM	No Domain	N/A	NULL
51151	61635915	Disease	p.Asp157Asn	606202.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606202	OCULOCUTANEOUS ALBINISM, TYPE IV	OMIM	217	cd06174	NULL
51151	61636000	Disease	p.Glu272Lys	606202.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606202	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR||SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN||SKIN/HAIR/EYE PIGMENTATION 5, DARK/LIGHT EYES	OMIM	No Domain	N/A	NULL
51151	61635915	Disease	p.Glu272Lys	606202.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606202	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR||SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN||SKIN/HAIR/EYE PIGMENTATION 5, DARK/LIGHT EYES	OMIM	450	cd06174	NULL
51151	61636000	Disease	p.Phe374Leu	606202.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606202	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR||SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN||SKIN/HAIR/EYE PIGMENTATION 5, DARK/LIGHT EYES	OMIM	No Domain	N/A	NULL
51151	61635915	Disease	p.Phe374Leu	606202.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606202	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR||SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN||SKIN/HAIR/EYE PIGMENTATION 5, DARK/LIGHT EYES	OMIM	561	cd06174	NULL
7466	224994203	Disease	p.Pro724Leu	606201.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201	WOLFRAM SYNDROME	OMIM	No Domain	N/A	NULL
7466	224994205	Disease	p.Pro724Leu	606201.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201	WOLFRAM SYNDROME	OMIM	No Domain	N/A	NULL
7466	224994203	Disease	p.Gly695Val	606201.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201	WOLFRAM SYNDROME	OMIM	No Domain	N/A	NULL
7466	224994205	Disease	p.Gly695Val	606201.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201	WOLFRAM SYNDROME	OMIM	No Domain	N/A	NULL
7466	224994203	Disease	p.Pro504Leu	606201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201	WOLFRAM SYNDROME	OMIM	No Domain	N/A	NULL
7466	224994205	Disease	p.Pro504Leu	606201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201	WOLFRAM SYNDROME	OMIM	No Domain	N/A	NULL
7466	224994203	Disease	p.Ala716Thr	606201.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201	DEAFNESS, AUTOSOMAL DOMINANT 6	OMIM	No Domain	N/A	NULL
7466	224994205	Disease	p.Ala716Thr	606201.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201	DEAFNESS, AUTOSOMAL DOMINANT 6	OMIM	No Domain	N/A	NULL
7466	224994203	Disease	p.Leu829Pro	606201.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201	DEAFNESS, AUTOSOMAL DOMINANT 6	OMIM	No Domain	N/A	NULL
7466	224994205	Disease	p.Leu829Pro	606201.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201	DEAFNESS, AUTOSOMAL DOMINANT 6	OMIM	No Domain	N/A	NULL
7466	224994203	Disease	p.Thr699Met	606201.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201	DEAFNESS, AUTOSOMAL DOMINANT 6	OMIM	No Domain	N/A	NULL
7466	224994205	Disease	p.Thr699Met	606201.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201	DEAFNESS, AUTOSOMAL DOMINANT 6	OMIM	No Domain	N/A	NULL
7466	224994203	Disease	p.Gly831Asp	606201.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201	DEAFNESS, AUTOSOMAL DOMINANT 6	OMIM	No Domain	N/A	NULL
7466	224994205	Disease	p.Gly831Asp	606201.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201	DEAFNESS, AUTOSOMAL DOMINANT 6	OMIM	No Domain	N/A	NULL
7466	224994203	Disease	p.Lys634Thr	606201.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201	DEAFNESS, AUTOSOMAL DOMINANT 6	OMIM	No Domain	N/A	NULL
7466	224994205	Disease	p.Lys634Thr	606201.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201	DEAFNESS, AUTOSOMAL DOMINANT 6	OMIM	No Domain	N/A	NULL
7466	224994203	Disease	p.Glu864Lys	606201.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201	WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
7466	224994205	Disease	p.Glu864Lys	606201.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201	WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
7466	224994203	Disease	p.Arg859Gln	606201.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201	DEAFNESS, AUTOSOMAL DOMINANT 6	OMIM	No Domain	N/A	NULL
7466	224994205	Disease	p.Arg859Gln	606201.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606201	DEAFNESS, AUTOSOMAL DOMINANT 6	OMIM	No Domain	N/A	NULL
79365	20137459	Disease	p.Pro385Arg	606200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606200	SHORT SLEEPER	OMIM	No Domain	N/A	13540521,NP_110389
26580	269849705	Disease	p.Ala212Pro	606158.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606158	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2	OMIM	421	pfam06775	40068505,NP_116056
26580	195230753	Disease	p.Ala212Pro	606158.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606158	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2	OMIM	278	pfam06775	NULL
26580	171906569	Disease	p.Ala212Pro	606158.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606158	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2	OMIM	278	pfam06775	NULL
26580	269849705	Disease	p.Asn88Ser	606158.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606158	SILVER SPASTIC PARAPLEGIA SYNDROME||SPINAL MUSCULAR ATROPHY, DISTAL, TYPE V	OMIM	77	pfam06775	40068505,NP_116056
26580	195230753	Disease	p.Asn88Ser	606158.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606158	SILVER SPASTIC PARAPLEGIA SYNDROME||SPINAL MUSCULAR ATROPHY, DISTAL, TYPE V	OMIM	No Domain	N/A	NULL
26580	171906569	Disease	p.Asn88Ser	606158.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606158	SILVER SPASTIC PARAPLEGIA SYNDROME||SPINAL MUSCULAR ATROPHY, DISTAL, TYPE V	OMIM	No Domain	N/A	NULL
26580	269849705	Disease	p.Ser90Leu	606158.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606158	SILVER SPASTIC PARAPLEGIA SYNDROME	OMIM	79	pfam06775	40068505,NP_116056
26580	195230753	Disease	p.Ser90Leu	606158.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606158	SILVER SPASTIC PARAPLEGIA SYNDROME	OMIM	No Domain	N/A	NULL
26580	171906569	Disease	p.Ser90Leu	606158.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606158	SILVER SPASTIC PARAPLEGIA SYNDROME	OMIM	No Domain	N/A	NULL
80025	24430167	Disease	p.Gly411Arg	606157.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1||NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	No Domain	N/A	NULL
80025	24430175	Disease	p.Gly411Arg	606157.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1||NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	No Domain	N/A	NULL
80025	118572682	Disease	p.Gly411Arg	606157.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1||NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	219	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Gly411Arg	606157.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1||NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	202	COG5146	85838513,NP_705902
80025	24430167	Disease	p.Arg154Trp	606157.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1	OMIM	253	pfam03630	NULL
80025	24430167	Disease	p.Arg154Trp	606157.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1	OMIM	236	COG5146	NULL
80025	24430175	Disease	p.Arg154Trp	606157.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1	OMIM	253	pfam03630	NULL
80025	24430175	Disease	p.Arg154Trp	606157.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1	OMIM	236	COG5146	NULL
80025	118572682	Disease	p.Arg154Trp	606157.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1	OMIM	No Domain	N/A	85838513,NP_705902
80025	24430167	Disease	p.Arg176Cys	606157.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1	OMIM	277	pfam03630	NULL
80025	24430167	Disease	p.Arg176Cys	606157.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1	OMIM	260	COG5146	NULL
80025	24430175	Disease	p.Arg176Cys	606157.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1	OMIM	277	pfam03630	NULL
80025	24430175	Disease	p.Arg176Cys	606157.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1	OMIM	260	COG5146	NULL
80025	118572682	Disease	p.Arg176Cys	606157.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1	OMIM	No Domain	N/A	85838513,NP_705902
80025	24430167	Disease	p.Ser361Asn	606157.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1	OMIM	No Domain	N/A	NULL
80025	24430175	Disease	p.Ser361Asn	606157.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1	OMIM	No Domain	N/A	NULL
80025	118572682	Disease	p.Ser361Asn	606157.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1	OMIM	165	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Ser361Asn	606157.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1	OMIM	149_G	COG5146	85838513,NP_705902
80025	24430167	Disease	p.Ser240Pro	606157.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	366	pfam03630	NULL
80025	24430167	Disease	p.Ser240Pro	606157.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	349	COG5146	NULL
80025	24430175	Disease	p.Ser240Pro	606157.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	366	pfam03630	NULL
80025	24430175	Disease	p.Ser240Pro	606157.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	349	COG5146	NULL
80025	118572682	Disease	p.Ser240Pro	606157.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	29	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Ser240Pro	606157.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	7	COG5146	85838513,NP_705902
80025	24430167	Disease	p.Thr124Ala	606157.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	223	pfam03630	NULL
80025	24430167	Disease	p.Thr124Ala	606157.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	206	COG5146	NULL
80025	24430175	Disease	p.Thr124Ala	606157.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	223	pfam03630	NULL
80025	24430175	Disease	p.Thr124Ala	606157.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	206	COG5146	NULL
80025	118572682	Disease	p.Thr124Ala	606157.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	No Domain	N/A	85838513,NP_705902
80025	24430167	Disease	p.Arg168Cys	606157.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	269	pfam03630	NULL
80025	24430167	Disease	p.Arg168Cys	606157.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	252	COG5146	NULL
80025	24430175	Disease	p.Arg168Cys	606157.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	269	pfam03630	NULL
80025	24430175	Disease	p.Arg168Cys	606157.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	252	COG5146	NULL
80025	118572682	Disease	p.Arg168Cys	606157.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	No Domain	N/A	85838513,NP_705902
80025	24430167	Disease	p.Thr418Met	606157.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1||NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	No Domain	N/A	NULL
80025	24430175	Disease	p.Thr418Met	606157.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1||NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	No Domain	N/A	NULL
80025	118572682	Disease	p.Thr418Met	606157.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1||NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	226	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Thr418Met	606157.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1||NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL	OMIM	209	COG5146	85838513,NP_705902
80025	24430167	Disease	p.Met327Thr	606157.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	HARP SYNDROME	OMIM	No Domain	N/A	NULL
80025	24430175	Disease	p.Met327Thr	606157.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	HARP SYNDROME	OMIM	No Domain	N/A	NULL
80025	118572682	Disease	p.Met327Thr	606157.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	HARP SYNDROME	OMIM	129	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Met327Thr	606157.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157	HARP SYNDROME	OMIM	117	COG5146	85838513,NP_705902
80704	74733486	Disease	p.Gly23Val	606152.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606152	BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE	OMIM	13	cd06174	13376856,NP_079519
80704	74733486	Disease	p.Gly23Val	606152.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606152	BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE	OMIM	14	pfam01770	13376856,NP_079519
80704	74733486	Disease	p.Thr422Ala	606152.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606152	BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE	OMIM	816	cd06174	13376856,NP_079519
80704	74733486	Disease	p.Thr422Ala	606152.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606152	BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE	OMIM	447	pfam01770	13376856,NP_079519
80704	74733486	Disease	p.Lys44Glu	606152.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606152	ENCEPHALOPATHY, THIAMINE-RESPONSIVE	OMIM	34	cd06174	13376856,NP_079519
80704	74733486	Disease	p.Lys44Glu	606152.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606152	ENCEPHALOPATHY, THIAMINE-RESPONSIVE	OMIM	35	pfam01770	13376856,NP_079519
80704	74733486	Disease	p.Glu320Gln	606152.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606152	ENCEPHALOPATHY, THIAMINE-RESPONSIVE	OMIM	565	cd06174	13376856,NP_079519
80704	74733486	Disease	p.Glu320Gln	606152.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606152	ENCEPHALOPATHY, THIAMINE-RESPONSIVE	OMIM	340	pfam01770	13376856,NP_079519
583	20454827	Disease	p.Val75Gly	606151.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606151	BARDET-BIEDL SYNDROME 2	OMIM	No Domain	N/A	219842319,NP_114091
583	20454827	Disease	p.Arg315Trp	606151.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606151	BARDET-BIEDL SYNDROME 2	OMIM	No Domain	N/A	219842319,NP_114091
583	20454827	Disease	p.Asp104Ala	606151.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606151	BARDET-BIEDL SYNDROME 2	OMIM	No Domain	N/A	219842319,NP_114091
583	20454827	Disease	p.Arg634Pro	606151.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606151	BARDET-BIEDL SYNDROME 2	OMIM	No Domain	N/A	219842319,NP_114091
583	20454827	Disease	p.Asn70Ser	606151.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606151	BARDET-BIEDL SYNDROME 2	OMIM	No Domain	N/A	219842319,NP_114091
583	20454827	Disease	p.Thr560Ile	606151.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606151	BARDET-BIEDL SYNDROME 2	OMIM	No Domain	N/A	219842319,NP_114091
583	20454827	Disease	p.Gly139Val	606151.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606151	BARDET-BIEDL SYNDROME 2	OMIM	No Domain	N/A	219842319,NP_114091
81031	17366247	Disease	p.Ser81Arg	606145.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606145	ARTERIAL TORTUOSITY SYNDROME	OMIM	84	COG2814	13540547,NP_110404
81031	17366247	Disease	p.Ser81Arg	606145.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606145	ARTERIAL TORTUOSITY SYNDROME	OMIM	172	COG0477	13540547,NP_110404
81031	17366247	Disease	p.Ser81Arg	606145.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606145	ARTERIAL TORTUOSITY SYNDROME	OMIM	149	pfam00083	13540547,NP_110404
81031	17366247	Disease	p.Ser81Arg	606145.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606145	ARTERIAL TORTUOSITY SYNDROME	OMIM	147	cd06174	13540547,NP_110404
81031	17366247	Disease	p.Ser81Arg	606145.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606145	ARTERIAL TORTUOSITY SYNDROME	OMIM	185	pfam07690	13540547,NP_110404
81031	17366247	Disease	p.Gly426Trp	606145.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606145	ARTERIAL TORTUOSITY SYNDROME	OMIM	511	pfam00083	13540547,NP_110404
81031	17366247	Disease	p.Gly426Trp	606145.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606145	ARTERIAL TORTUOSITY SYNDROME	OMIM	765	cd06174	13540547,NP_110404
81031	17366247	Disease	p.Arg132Trp	606145.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606145	ARTERIAL TORTUOSITY SYNDROME	OMIM	135	COG2814	13540547,NP_110404
81031	17366247	Disease	p.Arg132Trp	606145.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606145	ARTERIAL TORTUOSITY SYNDROME	OMIM	329	COG0477	13540547,NP_110404
81031	17366247	Disease	p.Arg132Trp	606145.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606145	ARTERIAL TORTUOSITY SYNDROME	OMIM	221	pfam00083	13540547,NP_110404
81031	17366247	Disease	p.Arg132Trp	606145.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606145	ARTERIAL TORTUOSITY SYNDROME	OMIM	255	cd06174	13540547,NP_110404
81031	17366247	Disease	p.Arg132Trp	606145.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606145	ARTERIAL TORTUOSITY SYNDROME	OMIM	267	pfam07690	13540547,NP_110404
56606	300669647	Disease	p.Arg380Trp	606142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	437	pfam00083	47933387,NP_064425
56606	300669647	Disease	p.Arg380Trp	606142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	607	pfam07690	47933387,NP_064425
56606	300669647	Disease	p.Arg380Trp	606142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	285	COG2814	47933387,NP_064425
56606	300669647	Disease	p.Arg380Trp	606142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	598	cd06174	47933387,NP_064425
56606	300669647	Disease	p.Arg380Trp	606142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	629	COG0477	47933387,NP_064425
56606	47933389	Disease	p.Arg380Trp	606142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	657	pfam07690	NULL
56606	47933389	Disease	p.Arg380Trp	606142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	748	cd06174	NULL
56606	47933389	Disease	p.Arg380Trp	606142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	317	COG2814	NULL
56606	47933389	Disease	p.Arg380Trp	606142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	491	pfam00083	NULL
56606	47933389	Disease	p.Arg380Trp	606142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	678	COG0477	NULL
56606	300669647	Disease	p.Arg198Cys	606142.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	221	pfam00083	47933387,NP_064425
56606	300669647	Disease	p.Arg198Cys	606142.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	267	pfam07690	47933387,NP_064425
56606	300669647	Disease	p.Arg198Cys	606142.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	135	COG2814	47933387,NP_064425
56606	300669647	Disease	p.Arg198Cys	606142.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	255	cd06174	47933387,NP_064425
56606	300669647	Disease	p.Arg198Cys	606142.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	329	COG0477	47933387,NP_064425
56606	47933389	Disease	p.Arg198Cys	606142.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	306	pfam07690	NULL
56606	47933389	Disease	p.Arg198Cys	606142.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	284	cd06174	NULL
56606	47933389	Disease	p.Arg198Cys	606142.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	162	COG2814	NULL
56606	47933389	Disease	p.Arg198Cys	606142.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	253	pfam00083	NULL
56606	47933389	Disease	p.Arg198Cys	606142.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	371	COG0477	NULL
56606	300669647	Disease	p.Pro412Arg	606142.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	494	pfam00083	47933387,NP_064425
56606	300669647	Disease	p.Pro412Arg	606142.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	660	pfam07690	47933387,NP_064425
56606	300669647	Disease	p.Pro412Arg	606142.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	320	COG2814	47933387,NP_064425
56606	300669647	Disease	p.Pro412Arg	606142.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	751	cd06174	47933387,NP_064425
56606	300669647	Disease	p.Pro412Arg	606142.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	681	COG0477	47933387,NP_064425
56606	47933389	Disease	p.Pro412Arg	606142.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	705	pfam07690	NULL
56606	47933389	Disease	p.Pro412Arg	606142.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	780	cd06174	NULL
56606	47933389	Disease	p.Pro412Arg	606142.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	351	COG2814	NULL
56606	47933389	Disease	p.Pro412Arg	606142.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	523	pfam00083	NULL
56606	47933389	Disease	p.Pro412Arg	606142.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606142	HYPOURICEMIA, RENAL, 2	OMIM	735	COG0477	NULL
57152	3287957	Disease	p.Gly86Arg	606119.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606119	MAL DE MELEDA	OMIM	82	pfam00021	9966907,NP_065160
57152	3287957	Disease	p.Gly86Arg	606119.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606119	MAL DE MELEDA	OMIM	93	cd00117	9966907,NP_065160
57152	3287957	Disease	p.Gly86Arg	606119.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606119	MAL DE MELEDA	OMIM	82	pfam00021	9966907,NP_065160
57152	3287957	Disease	p.Gly86Arg	606119.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606119	MAL DE MELEDA	OMIM	93	cd00117	9966907,NP_065160
57152	3287957	Disease	p.Met1Leu	606119.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606119	MAL DE MELEDA	OMIM	No Domain	N/A	9966907,NP_065160
57152	3287957	Disease	p.Trp15Arg	606119.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606119	MAL DE MELEDA	OMIM	No Domain	N/A	9966907,NP_065160
57152	3287957	Disease	p.Cys77Ala	606119.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606119	MAL DE MELEDA	OMIM	63	pfam00021	9966907,NP_065160
57152	3287957	Disease	p.Cys77Ala	606119.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606119	MAL DE MELEDA	OMIM	68	cd00117	9966907,NP_065160
57152	3287957	Disease	p.Cys99Tyr	606119.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606119	MAL DE MELEDA	OMIM	108	pfam00021	9966907,NP_065160
57152	3287957	Disease	p.Cys99Tyr	606119.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606119	MAL DE MELEDA	OMIM	107	cd00117	9966907,NP_065160
84343	20532121	Disease	p.Arg396Trp	606118.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606118	HERMANSKY-PUDLAK SYNDROME 3	OMIM	No Domain	N/A	19923642,NP_115759
23396	78099088	Disease	p.Asp253Asn	606102.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606102	LETHAL CONGENITAL CONTRACTURAL SYNDROME 3	OMIM	257	smart00330	31317309,NP_036530
23396	78099088	Disease	p.Asp253Asn	606102.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606102	LETHAL CONGENITAL CONTRACTURAL SYNDROME 3	OMIM	587	COG5253	31317309,NP_036530
23396	78099088	Disease	p.Asp253Asn	606102.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606102	LETHAL CONGENITAL CONTRACTURAL SYNDROME 3	OMIM	270	pfam01504	31317309,NP_036530
23396	78099088	Disease	p.Asp253Asn	606102.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606102	LETHAL CONGENITAL CONTRACTURAL SYNDROME 3	OMIM	262	cd00139	31317309,NP_036530
23396	307691174	Disease	p.Asp253Asn	606102.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606102	LETHAL CONGENITAL CONTRACTURAL SYNDROME 3	OMIM	257	smart00330	NULL
23396	307691174	Disease	p.Asp253Asn	606102.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606102	LETHAL CONGENITAL CONTRACTURAL SYNDROME 3	OMIM	587	COG5253	NULL
23396	307691174	Disease	p.Asp253Asn	606102.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606102	LETHAL CONGENITAL CONTRACTURAL SYNDROME 3	OMIM	270	pfam01504	NULL
23396	307691174	Disease	p.Asp253Asn	606102.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606102	LETHAL CONGENITAL CONTRACTURAL SYNDROME 3	OMIM	262	cd00139	NULL
56652	255304948	Disease	p.Ala475Pro	606075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	255304946	Disease	p.Ala475Pro	606075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	134	cd01122	NULL
56652	255304960	Disease	p.Ala475Pro	606075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	74752111	Disease	p.Ala475Pro	606075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	134	cd01122	39725942,NP_068602
56652	74752111	Disease	p.Ala475Pro	606075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	103	pfam06745	39725942,NP_068602
56652	74752111	Disease	p.Ala475Pro	606075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	115	cd00984	39725942,NP_068602
56652	255304948	Disease	p.Ala359Thr	606075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	255304946	Disease	p.Ala359Thr	606075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	255304960	Disease	p.Ala359Thr	606075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	74752111	Disease	p.Ala359Thr	606075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	39725942,NP_068602
56652	255304948	Disease	p.Trp474Cys	606075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	255304946	Disease	p.Trp474Cys	606075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	133	cd01122	NULL
56652	255304960	Disease	p.Trp474Cys	606075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	74752111	Disease	p.Trp474Cys	606075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	133	cd01122	39725942,NP_068602
56652	74752111	Disease	p.Trp474Cys	606075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	102	pfam06745	39725942,NP_068602
56652	74752111	Disease	p.Trp474Cys	606075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	114	cd00984	39725942,NP_068602
56652	255304948	Disease	p.Trp315Leu	606075.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	255304946	Disease	p.Trp315Leu	606075.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	101	cd01029	NULL
56652	255304960	Disease	p.Trp315Leu	606075.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	74752111	Disease	p.Trp315Leu	606075.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	101	cd01029	39725942,NP_068602
56652	255304948	Disease	p.Arg354Pro	606075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	255304946	Disease	p.Arg354Pro	606075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	255304960	Disease	p.Arg354Pro	606075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	74752111	Disease	p.Arg354Pro	606075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	39725942,NP_068602
56652	255304948	Disease	p.Leu381Pro	606075.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	255304946	Disease	p.Leu381Pro	606075.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	8	cd01122	NULL
56652	255304960	Disease	p.Leu381Pro	606075.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	74752111	Disease	p.Leu381Pro	606075.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	8	cd01122	39725942,NP_068602
56652	255304948	Disease	p.Arg334Gln	606075.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC	OMIM	No Domain	N/A	NULL
56652	255304946	Disease	p.Arg334Gln	606075.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC	OMIM	135	cd01029	NULL
56652	255304960	Disease	p.Arg334Gln	606075.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC	OMIM	No Domain	N/A	NULL
56652	74752111	Disease	p.Arg334Gln	606075.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC	OMIM	135	cd01029	39725942,NP_068602
56652	255304948	Disease	p.Ser369Tyr	606075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	255304946	Disease	p.Ser369Tyr	606075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	255304960	Disease	p.Ser369Tyr	606075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	74752111	Disease	p.Ser369Tyr	606075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	39725942,NP_068602
56652	255304948	Disease	p.Lys319Glu	606075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	No Domain	N/A	NULL
56652	255304946	Disease	p.Lys319Glu	606075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	105	cd01029	NULL
56652	255304960	Disease	p.Lys319Glu	606075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	No Domain	N/A	NULL
56652	74752111	Disease	p.Lys319Glu	606075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	105	cd01029	39725942,NP_068602
56652	255304948	Disease	p.Thr457Ile	606075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	No Domain	N/A	NULL
56652	255304946	Disease	p.Thr457Ile	606075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	87	cd01122	NULL
56652	255304960	Disease	p.Thr457Ile	606075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	No Domain	N/A	NULL
56652	74752111	Disease	p.Thr457Ile	606075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	87	cd01122	39725942,NP_068602
56652	74752111	Disease	p.Thr457Ile	606075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	87	pfam06745	39725942,NP_068602
56652	74752111	Disease	p.Thr457Ile	606075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	92	cd00984	39725942,NP_068602
56652	255304948	Disease	p.Arg303Gln	606075.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	255304946	Disease	p.Arg303Gln	606075.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	76	cd01029	NULL
56652	255304960	Disease	p.Arg303Gln	606075.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	74752111	Disease	p.Arg303Gln	606075.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	76	cd01029	39725942,NP_068602
56652	255304948	Disease	p.Arg374Trp	606075.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	255304946	Disease	p.Arg374Trp	606075.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	255304960	Disease	p.Arg374Trp	606075.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	NULL
56652	74752111	Disease	p.Arg374Trp	606075.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3	OMIM	No Domain	N/A	39725942,NP_068602
56652	255304948	Disease	p.Ala318Thr	606075.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	SPINOCEREBELLAR ATAXIA, INFANTILE-ONSET	OMIM	No Domain	N/A	NULL
56652	255304946	Disease	p.Ala318Thr	606075.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	SPINOCEREBELLAR ATAXIA, INFANTILE-ONSET	OMIM	104	cd01029	NULL
56652	255304960	Disease	p.Ala318Thr	606075.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	SPINOCEREBELLAR ATAXIA, INFANTILE-ONSET	OMIM	No Domain	N/A	NULL
56652	74752111	Disease	p.Ala318Thr	606075.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606075	SPINOCEREBELLAR ATAXIA, INFANTILE-ONSET	OMIM	104	cd01029	39725942,NP_068602
57057	118572725	Disease	p.Ile152Met	606061.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606061	ATRIAL SEPTAL DEFECT 4	OMIM	61	cd00182	261337146,NP_001159692
57057	118572725	Disease	p.Ile152Met	606061.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606061	ATRIAL SEPTAL DEFECT 4	OMIM	56	pfam00907	261337146,NP_001159692
57057	118572725	Disease	p.Ile152Met	606061.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606061	ATRIAL SEPTAL DEFECT 4	OMIM	60	smart00425	261337146,NP_001159692
57057	117676399	Disease	p.Ile152Met	606061.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606061	ATRIAL SEPTAL DEFECT 4	OMIM	61	cd00182	NULL
57057	117676399	Disease	p.Ile152Met	606061.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606061	ATRIAL SEPTAL DEFECT 4	OMIM	56	pfam00907	NULL
57057	117676399	Disease	p.Ile152Met	606061.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606061	ATRIAL SEPTAL DEFECT 4	OMIM	60	smart00425	NULL
57057	118572725	Disease	p.Ile121Met	606061.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606061	ATRIAL SEPTAL DEFECT 4	OMIM	25	cd00182	261337146,NP_001159692
57057	118572725	Disease	p.Ile121Met	606061.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606061	ATRIAL SEPTAL DEFECT 4	OMIM	21	pfam00907	261337146,NP_001159692
57057	118572725	Disease	p.Ile121Met	606061.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606061	ATRIAL SEPTAL DEFECT 4	OMIM	23	smart00425	261337146,NP_001159692
57057	117676399	Disease	p.Ile121Met	606061.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606061	ATRIAL SEPTAL DEFECT 4	OMIM	25	cd00182	NULL
57057	117676399	Disease	p.Ile121Met	606061.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606061	ATRIAL SEPTAL DEFECT 4	OMIM	21	pfam00907	NULL
57057	117676399	Disease	p.Ile121Met	606061.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606061	ATRIAL SEPTAL DEFECT 4	OMIM	23	smart00425	NULL
10225	161784352	Disease	p.Thr280Met	606037.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606037	C-LIKE SYNDROME	OMIM	No Domain	N/A	38683840,NP_937839
10225	5032141	Disease	p.Thr280Met	606037.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606037	C-LIKE SYNDROME	OMIM	No Domain	N/A	NULL
10535	20981704	Disease	p.Gly37Ser	606034.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606034	AICARDI-GOUTIERES SYNDROME 4	OMIM	7	pfam01351	38455391,NP_006388
10535	20981704	Disease	p.Gly37Ser	606034.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606034	AICARDI-GOUTIERES SYNDROME 4	OMIM	7	cd07182	38455391,NP_006388
10535	20981704	Disease	p.Gly37Ser	606034.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606034	AICARDI-GOUTIERES SYNDROME 4	OMIM	7	cd06590	38455391,NP_006388
10535	20981704	Disease	p.Gly37Ser	606034.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606034	AICARDI-GOUTIERES SYNDROME 4	OMIM	7	cd07181	38455391,NP_006388
10535	20981704	Disease	p.Gly37Ser	606034.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606034	AICARDI-GOUTIERES SYNDROME 4	OMIM	7	cd07180	38455391,NP_006388
10535	20981704	Disease	p.Gly37Ser	606034.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606034	AICARDI-GOUTIERES SYNDROME 4	OMIM	7	cd06266	38455391,NP_006388
10535	20981704	Disease	p.Gly37Ser	606034.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606034	AICARDI-GOUTIERES SYNDROME 4	OMIM	9	COG0164	38455391,NP_006388
257	215273931	Disease	p.Asn203Ser	606014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606014	FRONTORHINY	OMIM	90	smart00389	113204604,NP_006483
257	215273931	Disease	p.Asn203Ser	606014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606014	FRONTORHINY	OMIM	82	cd00086	113204604,NP_006483
257	215273931	Disease	p.Asn203Ser	606014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606014	FRONTORHINY	OMIM	60	pfam00046	113204604,NP_006483
257	215273931	Disease	p.Asn203Ser	606014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606014	FRONTORHINY	OMIM	103	COG5576	113204604,NP_006483
257	215273931	Disease	p.Leu168Val	606014.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606014	FRONTORHINY	OMIM	20	smart00389	113204604,NP_006483
257	215273931	Disease	p.Leu168Val	606014.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606014	FRONTORHINY	OMIM	15	cd00086	113204604,NP_006483
257	215273931	Disease	p.Leu168Val	606014.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606014	FRONTORHINY	OMIM	15	pfam00046	113204604,NP_006483
257	215273931	Disease	p.Leu168Val	606014.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606014	FRONTORHINY	OMIM	66	COG5576	113204604,NP_006483
257	215273931	Disease	p.Arg183Trp	606014.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606014	FRONTORHINY	OMIM	49	smart00389	113204604,NP_006483
257	215273931	Disease	p.Arg183Trp	606014.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606014	FRONTORHINY	OMIM	41	cd00086	113204604,NP_006483
257	215273931	Disease	p.Arg183Trp	606014.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606014	FRONTORHINY	OMIM	35	pfam00046	113204604,NP_006483
257	215273931	Disease	p.Arg183Trp	606014.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606014	FRONTORHINY	OMIM	81	COG5576	113204604,NP_006483
257	215273931	Disease	p.Arg196Trp	606014.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606014	FRONTORHINY	OMIM	83	smart00389	113204604,NP_006483
257	215273931	Disease	p.Arg196Trp	606014.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606014	FRONTORHINY	OMIM	75	cd00086	113204604,NP_006483
257	215273931	Disease	p.Arg196Trp	606014.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606014	FRONTORHINY	OMIM	53	pfam00046	113204604,NP_006483
257	215273931	Disease	p.Arg196Trp	606014.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606014	FRONTORHINY	OMIM	96	COG5576	113204604,NP_006483
23095	41393563	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	157	pfam00225	NULL
23095	41393563	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	123	cd01369	NULL
23095	41393563	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	129	cd01364	NULL
23095	41393563	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	92	cd01363	NULL
23095	41393563	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	114	cd01366	NULL
23095	41393563	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	129	cd01371	NULL
23095	41393563	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	87	cd01373	NULL
23095	41393563	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	112	cd01372	NULL
23095	41393563	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	114	cd01368	NULL
23095	41393563	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	108	cd01367	NULL
23095	41393563	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	129	cd01365	NULL
23095	41393563	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	164	COG5059	NULL
23095	41393563	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	182	cd01374	NULL
23095	41393563	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	169	cd01370	NULL
23095	41393563	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	265	cd00106	NULL
23095	41393563	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	166	cd01375	NULL
23095	41393563	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	98	cd01376	NULL
23095	41393563	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	312	smart00129	NULL
23095	41393559	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	92	cd01363	NULL
23095	41393559	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	114	cd01366	NULL
23095	41393559	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	157	pfam00225	NULL
23095	41393559	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	164	COG5059	NULL
23095	41393559	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	129	cd01371	NULL
23095	41393559	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	87	cd01373	NULL
23095	41393559	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	112	cd01372	NULL
23095	41393559	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	114	cd01368	NULL
23095	41393559	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	108	cd01367	NULL
23095	41393559	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	129	cd01365	NULL
23095	41393559	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	123	cd01369	NULL
23095	41393559	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	129	cd01364	NULL
23095	41393559	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	182	cd01374	NULL
23095	41393559	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	169	cd01370	NULL
23095	41393559	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	265	cd00106	NULL
23095	41393559	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	166	cd01375	NULL
23095	41393559	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	98	cd01376	NULL
23095	41393559	Disease	p.Gln98Leu	605995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605995	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	OMIM	312	smart00129	NULL
64421	76496499	Disease	p.Met1Thr	605988.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605988	OMENN SYNDROME	OMIM	No Domain	N/A	NULL
64421	76496501	Disease	p.Met1Thr	605988.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605988	OMENN SYNDROME	OMIM	No Domain	N/A	NULL
64421	76496495	Disease	p.Met1Thr	605988.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605988	OMENN SYNDROME	OMIM	No Domain	N/A	NULL
64421	71153325	Disease	p.Met1Thr	605988.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605988	OMENN SYNDROME	OMIM	No Domain	N/A	76496497,NP_001029027
64421	76496499	Disease	p.His35Asp	605988.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605988	OMENN SYNDROME	OMIM	No Domain	N/A	NULL
64421	76496501	Disease	p.His35Asp	605988.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605988	OMENN SYNDROME	OMIM	No Domain	N/A	NULL
64421	76496495	Disease	p.His35Asp	605988.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605988	OMENN SYNDROME	OMIM	No Domain	N/A	NULL
64421	71153325	Disease	p.His35Asp	605988.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605988	OMENN SYNDROME	OMIM	No Domain	N/A	76496497,NP_001029027
197131	73622071	Disease	p.His136Arg	605981.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605981	JOHANSON-BLIZZARD SYNDROME	OMIM	74	pfam02207	28372497,NP_777576
197131	73622071	Disease	p.His136Arg	605981.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605981	JOHANSON-BLIZZARD SYNDROME	OMIM	46	smart00396	28372497,NP_777576
23230	66346672	Disease	p.Ile90Lys	605978.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605978	CHOREOACANTHOCYTOSIS	OMIM	89	COG5043	NULL
23230	66346676	Disease	p.Ile90Lys	605978.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605978	CHOREOACANTHOCYTOSIS	OMIM	89	COG5043	NULL
23230	71152975	Disease	p.Ile90Lys	605978.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605978	CHOREOACANTHOCYTOSIS	OMIM	89	COG5043	66346674,NP_150648
23230	15619008	Disease	p.Ile90Lys	605978.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605978	CHOREOACANTHOCYTOSIS	OMIM	89	COG5043	NULL
64127	20137973	Disease	p.Gly908Arg	605956.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605956	INFLAMMATORY BOWEL DISEASE 1, SUSCEPTIBILITY TO	OMIM	11	smart00368	11545912,NP_071445
64127	20137973	Disease	p.Gly908Arg	605956.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605956	INFLAMMATORY BOWEL DISEASE 1, SUSCEPTIBILITY TO	OMIM	207	cd00116	11545912,NP_071445
64127	20137973	Disease	p.Arg702Trp	605956.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605956	INFLAMMATORY BOWEL DISEASE 1, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	11545912,NP_071445
64127	20137973	Disease	p.Arg334Gln	605956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605956	BLAU SYNDROME	OMIM	47	pfam05729	11545912,NP_071445
64127	20137973	Disease	p.Leu469Phe	605956.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605956	BLAU SYNDROME	OMIM	No Domain	N/A	11545912,NP_071445
64127	20137973	Disease	p.Arg334Trp	605956.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605956	BLAU SYNDROME||SARCOIDOSIS, EARLY-ONSET	OMIM	47	pfam05729	11545912,NP_071445
64127	20137973	Disease	p.His496Leu	605956.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605956	SARCOIDOSIS, EARLY-ONSET	OMIM	No Domain	N/A	11545912,NP_071445
64127	20137973	Disease	p.Asp382Glu	605956.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605956	SARCOIDOSIS, EARLY-ONSET	OMIM	127	pfam05729	11545912,NP_071445
64127	20137973	Disease	p.Ala612Thr	605956.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605956	SARCOIDOSIS, EARLY-ONSET	OMIM	No Domain	N/A	11545912,NP_071445
64127	20137973	Disease	p.Glu383Lys	605956.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605956	BLAU SYNDROME	OMIM	128	pfam05729	11545912,NP_071445
54344	125987822	Disease	p.Leu85Ser	605951.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605951	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io	OMIM	88	pfam08285	24430135,NP_714963
54344	19424120	Disease	p.Leu85Ser	605951.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605951	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io	OMIM	58	pfam08285	NULL
51129	25008123	Disease	p.Glu40Lys	605910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605910	REDUCED TRIGLYCERIDES, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	21536398,NP_647475
51129	89264696	Disease	p.Glu40Lys	605910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605910	REDUCED TRIGLYCERIDES, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
23209	20141590	Disease	p.Ser280Leu	605908.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605908	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	OMIM	No Domain	N/A	21237732,NP_631941|14589896,NP_055981
23209	20141590	Disease	p.Ser280Leu	605908.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605908	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	OMIM	No Domain	N/A	21237732,NP_631941|14589896,NP_055981
23209	20141590	Disease	p.Ser93Leu	605908.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605908	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	OMIM	No Domain	N/A	21237732,NP_631941|14589896,NP_055981
23209	20141590	Disease	p.Ser93Leu	605908.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605908	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	OMIM	No Domain	N/A	21237732,NP_631941|14589896,NP_055981
23209	20141590	Disease	p.Asn141Lys	605908.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605908	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	OMIM	No Domain	N/A	21237732,NP_631941|14589896,NP_055981
23209	20141590	Disease	p.Asn141Lys	605908.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605908	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	OMIM	No Domain	N/A	21237732,NP_631941|14589896,NP_055981
23209	20141590	Disease	p.Asn141Ser	605908.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605908	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	OMIM	No Domain	N/A	21237732,NP_631941|14589896,NP_055981
23209	20141590	Disease	p.Asn141Ser	605908.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605908	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	OMIM	No Domain	N/A	21237732,NP_631941|14589896,NP_055981
23209	20141590	Disease	p.Pro92Ser	605908.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605908	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	OMIM	No Domain	N/A	21237732,NP_631941|14589896,NP_055981
23209	20141590	Disease	p.Pro92Ser	605908.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605908	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	OMIM	No Domain	N/A	21237732,NP_631941|14589896,NP_055981
23209	20141590	Disease	p.Gly59Glu	605908.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605908	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	OMIM	No Domain	N/A	21237732,NP_631941|14589896,NP_055981
23209	20141590	Disease	p.Gly59Glu	605908.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605908	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	OMIM	No Domain	N/A	21237732,NP_631941|14589896,NP_055981
79742	193804856	Disease	p.Gly59Glu	605908.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605908	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Gly59Glu	605908.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605908	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
56052	73921663	Disease	p.Ser258Leu	605907.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605907	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik	OMIM	474	COG0438	41350216,NP_061982
56052	73921663	Disease	p.Ser258Leu	605907.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605907	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik	OMIM	278	cd03794	41350216,NP_061982
56052	73921663	Disease	p.Ser258Leu	605907.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605907	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik	OMIM	504	cd01635	41350216,NP_061982
56052	73921663	Disease	p.Ser258Leu	605907.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605907	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik	OMIM	366	cd03801	41350216,NP_061982
56052	73921663	Disease	p.Ser258Leu	605907.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605907	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik	OMIM	262	cd03816	41350216,NP_061982
56052	73921663	Disease	p.Glu342Pro	605907.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605907	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik	OMIM	693	COG0438	41350216,NP_061982
56052	73921663	Disease	p.Glu342Pro	605907.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605907	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik	OMIM	361	cd03794	41350216,NP_061982
56052	73921663	Disease	p.Glu342Pro	605907.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605907	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik	OMIM	685	cd01635	41350216,NP_061982
56052	73921663	Disease	p.Glu342Pro	605907.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605907	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik	OMIM	490	cd03801	41350216,NP_061982
56052	73921663	Disease	p.Glu342Pro	605907.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605907	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik	OMIM	423	cd03816	41350216,NP_061982
56052	73921663	Disease	p.Ser150Arg	605907.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605907	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik	OMIM	262	COG0438	41350216,NP_061982
56052	73921663	Disease	p.Ser150Arg	605907.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605907	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik	OMIM	172	cd03794	41350216,NP_061982
56052	73921663	Disease	p.Ser150Arg	605907.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605907	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik	OMIM	275	cd01635	41350216,NP_061982
56052	73921663	Disease	p.Ser150Arg	605907.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605907	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik	OMIM	218	cd03801	41350216,NP_061982
56052	73921663	Disease	p.Ser150Arg	605907.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605907	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik	OMIM	134	cd03816	41350216,NP_061982
11155	122056619	Disease	p.Ala147Thr	605906.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED	OMIM	No Domain	N/A	NULL
11155	284413716	Disease	p.Ala147Thr	605906.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED	OMIM	No Domain	N/A	NULL
11155	83288256	Disease	p.Ala147Thr	605906.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED	OMIM	No Domain	N/A	45592959,NP_009009
11155	122056617	Disease	p.Ala147Thr	605906.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED	OMIM	No Domain	N/A	NULL
11155	122056614	Disease	p.Ala147Thr	605906.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED	OMIM	No Domain	N/A	NULL
11155	284413714	Disease	p.Ala147Thr	605906.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED	OMIM	No Domain	N/A	NULL
11155	122056619	Disease	p.Ala165Val	605906.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED	OMIM	18	smart00735	NULL
11155	284413716	Disease	p.Ala165Val	605906.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED	OMIM	No Domain	N/A	NULL
11155	83288256	Disease	p.Ala165Val	605906.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED	OMIM	No Domain	N/A	45592959,NP_009009
11155	122056617	Disease	p.Ala165Val	605906.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED	OMIM	No Domain	N/A	NULL
11155	122056614	Disease	p.Ala165Val	605906.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED	OMIM	18	smart00735	NULL
11155	284413714	Disease	p.Ala165Val	605906.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED	OMIM	No Domain	N/A	NULL
11155	122056619	Disease	p.Arg268Cys	605906.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED	OMIM	No Domain	N/A	NULL
11155	284413716	Disease	p.Arg268Cys	605906.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED	OMIM	6	smart00735	NULL
11155	83288256	Disease	p.Arg268Cys	605906.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED	OMIM	No Domain	N/A	45592959,NP_009009
11155	122056617	Disease	p.Arg268Cys	605906.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED	OMIM	No Domain	N/A	NULL
11155	122056614	Disease	p.Arg268Cys	605906.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED	OMIM	No Domain	N/A	NULL
11155	284413714	Disease	p.Arg268Cys	605906.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	MYOPATHY, MYOFIBRILLAR, ZASP-RELATED	OMIM	6	smart00735	NULL
11155	122056619	Disease	p.Ile352Met	605906.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, 1C	OMIM	No Domain	N/A	NULL
11155	284413716	Disease	p.Ile352Met	605906.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, 1C	OMIM	No Domain	N/A	NULL
11155	83288256	Disease	p.Ile352Met	605906.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, 1C	OMIM	No Domain	N/A	45592959,NP_009009
11155	122056617	Disease	p.Ile352Met	605906.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, 1C	OMIM	No Domain	N/A	NULL
11155	122056614	Disease	p.Ile352Met	605906.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, 1C	OMIM	No Domain	N/A	NULL
11155	284413714	Disease	p.Ile352Met	605906.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, 1C	OMIM	No Domain	N/A	NULL
11155	122056619	Disease	p.Ser196Leu	605906.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	OMIM	No Domain	N/A	NULL
11155	284413716	Disease	p.Ser196Leu	605906.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	OMIM	8	smart00735	NULL
11155	83288256	Disease	p.Ser196Leu	605906.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	OMIM	8	smart00735	45592959,NP_009009
11155	122056617	Disease	p.Ser196Leu	605906.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	OMIM	8	smart00735	NULL
11155	122056614	Disease	p.Ser196Leu	605906.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	OMIM	No Domain	N/A	NULL
11155	284413714	Disease	p.Ser196Leu	605906.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	OMIM	8	smart00735	NULL
11155	122056619	Disease	p.Thr213Ile	605906.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	OMIM	No Domain	N/A	NULL
11155	284413716	Disease	p.Thr213Ile	605906.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	OMIM	25	smart00735	NULL
11155	83288256	Disease	p.Thr213Ile	605906.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	OMIM	25	smart00735	45592959,NP_009009
11155	122056617	Disease	p.Thr213Ile	605906.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	OMIM	25	smart00735	NULL
11155	122056614	Disease	p.Thr213Ile	605906.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	OMIM	No Domain	N/A	NULL
11155	284413714	Disease	p.Thr213Ile	605906.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	OMIM	25	smart00735	NULL
11155	122056619	Disease	p.Asp117Asn	605906.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	OMIM	No Domain	N/A	NULL
11155	284413716	Disease	p.Asp117Asn	605906.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	OMIM	No Domain	N/A	NULL
11155	83288256	Disease	p.Asp117Asn	605906.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	OMIM	No Domain	N/A	45592959,NP_009009
11155	122056617	Disease	p.Asp117Asn	605906.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	OMIM	No Domain	N/A	NULL
11155	122056614	Disease	p.Asp117Asn	605906.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	OMIM	No Domain	N/A	NULL
11155	284413714	Disease	p.Asp117Asn	605906.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	OMIM	No Domain	N/A	NULL
11155	122056619	Disease	p.Lys136Met	605906.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, 1C	OMIM	No Domain	N/A	NULL
11155	284413716	Disease	p.Lys136Met	605906.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, 1C	OMIM	No Domain	N/A	NULL
11155	83288256	Disease	p.Lys136Met	605906.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, 1C	OMIM	No Domain	N/A	45592959,NP_009009
11155	122056617	Disease	p.Lys136Met	605906.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, 1C	OMIM	No Domain	N/A	NULL
11155	122056614	Disease	p.Lys136Met	605906.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, 1C	OMIM	No Domain	N/A	NULL
11155	284413714	Disease	p.Lys136Met	605906.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, 1C	OMIM	No Domain	N/A	NULL
11155	122056619	Disease	p.Asp626Asn	605906.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, 1C||LEFT VENTRICULAR NONCOMPACTION 3	OMIM	No Domain	N/A	NULL
11155	284413716	Disease	p.Asp626Asn	605906.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, 1C||LEFT VENTRICULAR NONCOMPACTION 3	OMIM	No Domain	N/A	NULL
11155	83288256	Disease	p.Asp626Asn	605906.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, 1C||LEFT VENTRICULAR NONCOMPACTION 3	OMIM	23	pfam00412	45592959,NP_009009
11155	83288256	Disease	p.Asp626Asn	605906.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, 1C||LEFT VENTRICULAR NONCOMPACTION 3	OMIM	30	smart00132	45592959,NP_009009
11155	122056617	Disease	p.Asp626Asn	605906.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, 1C||LEFT VENTRICULAR NONCOMPACTION 3	OMIM	No Domain	N/A	NULL
11155	122056614	Disease	p.Asp626Asn	605906.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, 1C||LEFT VENTRICULAR NONCOMPACTION 3	OMIM	No Domain	N/A	NULL
11155	284413714	Disease	p.Asp626Asn	605906.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, 1C||LEFT VENTRICULAR NONCOMPACTION 3	OMIM	16	pfam00412	NULL
11155	284413714	Disease	p.Asp626Asn	605906.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605906	CARDIOMYOPATHY, DILATED, 1C||LEFT VENTRICULAR NONCOMPACTION 3	OMIM	21	smart00132	NULL
55343	223671917	Disease	p.Arg147Cys	605881.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605881	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc	OMIM	134	pfam08449	NULL
55343	223671917	Disease	p.Arg147Cys	605881.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605881	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc	OMIM	195	COG0697	NULL
55343	20138280	Disease	p.Arg147Cys	605881.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605881	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc	OMIM	174	COG0697	223671915,NP_060859
55343	20138280	Disease	p.Arg147Cys	605881.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605881	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc	OMIM	121	pfam08449	223671915,NP_060859
55343	223671919	Disease	p.Arg147Cys	605881.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605881	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc	OMIM	134	pfam08449	NULL
55343	223671919	Disease	p.Arg147Cys	605881.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605881	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc	OMIM	195	COG0697	NULL
55343	223671917	Disease	p.Thr308Arg	605881.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605881	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc	OMIM	361	pfam08449	NULL
55343	223671917	Disease	p.Thr308Arg	605881.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605881	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc	OMIM	194	pfam03151	NULL
55343	223671917	Disease	p.Thr308Arg	605881.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605881	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc	OMIM	440	COG0697	NULL
55343	20138280	Disease	p.Thr308Arg	605881.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605881	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc	OMIM	419	COG0697	223671915,NP_060859
55343	20138280	Disease	p.Thr308Arg	605881.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605881	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc	OMIM	177	pfam03151	223671915,NP_060859
55343	20138280	Disease	p.Thr308Arg	605881.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605881	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc	OMIM	348	pfam08449	223671915,NP_060859
55343	223671919	Disease	p.Thr308Arg	605881.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605881	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc	OMIM	361	pfam08449	NULL
55343	223671919	Disease	p.Thr308Arg	605881.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605881	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc	OMIM	194	pfam03151	NULL
55343	223671919	Disease	p.Thr308Arg	605881.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605881	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc	OMIM	440	COG0697	NULL
51305	13431426	Disease	p.Gly236Arg	605874.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605874	BIRK-BAREL SYNDROME	OMIM	94	pfam07885	7706135,NP_057685
29958	296434575	Disease	p.His81Arg	605849.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605849	DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY	OMIM	44	COG0578	24797151,NP_037523
29958	296434575	Disease	p.His81Arg	605849.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605849	DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY	OMIM	44	COG0665	24797151,NP_037523
29958	296434575	Disease	p.His81Arg	605849.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605849	DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY	OMIM	43	pfam01266	24797151,NP_037523
29958	296434575	Disease	p.His81Arg	605849.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605849	DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY	OMIM	36	COG0579	24797151,NP_037523
23636	134047855	Disease	p.Gln391Pro	605815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605815	STRIATONIGRAL DEGENERATION, INFANTILE	OMIM	85	pfam05064	24497609,NP_714941|24497607,NP_714940|301069416,NP_001180286|24497605,NP_057637|24497603,NP_036478
23636	134047855	Disease	p.Gln391Pro	605815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605815	STRIATONIGRAL DEGENERATION, INFANTILE	OMIM	85	pfam05064	24497609,NP_714941|24497607,NP_714940|301069416,NP_001180286|24497605,NP_057637|24497603,NP_036478
23636	134047855	Disease	p.Gln391Pro	605815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605815	STRIATONIGRAL DEGENERATION, INFANTILE	OMIM	85	pfam05064	24497609,NP_714941|24497607,NP_714940|301069416,NP_001180286|24497605,NP_057637|24497603,NP_036478
23636	134047855	Disease	p.Gln391Pro	605815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605815	STRIATONIGRAL DEGENERATION, INFANTILE	OMIM	85	pfam05064	24497609,NP_714941|24497607,NP_714940|301069416,NP_001180286|24497605,NP_057637|24497603,NP_036478
23636	134047855	Disease	p.Gln391Pro	605815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605815	STRIATONIGRAL DEGENERATION, INFANTILE	OMIM	85	pfam05064	24497609,NP_714941|24497607,NP_714940|301069416,NP_001180286|24497605,NP_057637|24497603,NP_036478
56945	13633893	Disease	p.Arg170His	605810.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605810	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5	OMIM	109	pfam10245	9910244,NP_064576
9839	284413746	Disease	p.Gln1119Arg	605802.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605802	MOWAT-WILSON SYNDROME	OMIM	No Domain	N/A	NULL
9839	13124503	Disease	p.Gln1119Arg	605802.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605802	MOWAT-WILSON SYNDROME	OMIM	No Domain	N/A	7662184,NP_055610
215	67476960	Disease	p.Thr41Ile	605799.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605799	MEGALOBLASTIC ANEMIA 1, NORWEGIAN TYPE	OMIM	33	COG4178	7262393,NP_000024
53630	41688803	Disease	p.Thr170Met	605748.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605748	HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	204	COG3670	74027270,NP_059125
53630	41688803	Disease	p.Thr170Met	605748.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605748	HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	567	pfam03055	74027270,NP_059125
26119	116241254	Disease	p.Pro202His	605747.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605747	HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	132626790,NP_056442
9517	6685580	Disease	p.Gly382Val	605713.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605713	NEUROPATHY, HEREDITARY SENSORY, TYPE IC	OMIM	250	cd01494	4758668,NP_004854
9517	6685580	Disease	p.Gly382Val	605713.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605713	NEUROPATHY, HEREDITARY SENSORY, TYPE IC	OMIM	364	COG0156	4758668,NP_004854
9517	6685580	Disease	p.Gly382Val	605713.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605713	NEUROPATHY, HEREDITARY SENSORY, TYPE IC	OMIM	292	COG0520	4758668,NP_004854
9517	6685580	Disease	p.Gly382Val	605713.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605713	NEUROPATHY, HEREDITARY SENSORY, TYPE IC	OMIM	304	pfam00155	4758668,NP_004854
9517	6685580	Disease	p.Gly382Val	605713.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605713	NEUROPATHY, HEREDITARY SENSORY, TYPE IC	OMIM	244	cd06454	4758668,NP_004854
9517	6685580	Disease	p.Val359Met	605713.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605713	NEUROPATHY, HEREDITARY SENSORY, TYPE IC	OMIM	225	cd01494	4758668,NP_004854
9517	6685580	Disease	p.Val359Met	605713.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605713	NEUROPATHY, HEREDITARY SENSORY, TYPE IC	OMIM	319	COG0156	4758668,NP_004854
9517	6685580	Disease	p.Val359Met	605713.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605713	NEUROPATHY, HEREDITARY SENSORY, TYPE IC	OMIM	270_G	COG0520	4758668,NP_004854
9517	6685580	Disease	p.Val359Met	605713.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605713	NEUROPATHY, HEREDITARY SENSORY, TYPE IC	OMIM	274	pfam00155	4758668,NP_004854
9517	6685580	Disease	p.Val359Met	605713.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605713	NEUROPATHY, HEREDITARY SENSORY, TYPE IC	OMIM	200	cd06454	4758668,NP_004854
9517	6685580	Disease	p.Ile504Phe	605713.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605713	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE	OMIM	523	COG0156	4758668,NP_004854
9517	6685580	Disease	p.Ile504Phe	605713.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605713	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE	OMIM	510	COG0520	4758668,NP_004854
9517	6685580	Disease	p.Ile504Phe	605713.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605713	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE	OMIM	501	pfam00155	4758668,NP_004854
9517	6685580	Disease	p.Ile504Phe	605713.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605713	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE	OMIM	369	cd06454	4758668,NP_004854
10558	30474871	Disease	p.Cys133Tyr	605712.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY, TYPE I	OMIM	No Domain	N/A	NULL
10558	6685579	Disease	p.Cys133Tyr	605712.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY, TYPE I	OMIM	44	pfam00155	5454084,NP_006406
10558	6685579	Disease	p.Cys133Tyr	605712.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY, TYPE I	OMIM	38	cd06454	5454084,NP_006406
10558	6685579	Disease	p.Cys133Tyr	605712.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY, TYPE I	OMIM	142	COG0156	5454084,NP_006406
10558	30474871	Disease	p.Cys133Trp	605712.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY, TYPE I	OMIM	No Domain	N/A	NULL
10558	6685579	Disease	p.Cys133Trp	605712.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY, TYPE I	OMIM	44	pfam00155	5454084,NP_006406
10558	6685579	Disease	p.Cys133Trp	605712.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY, TYPE I	OMIM	38	cd06454	5454084,NP_006406
10558	6685579	Disease	p.Cys133Trp	605712.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY, TYPE I	OMIM	142	COG0156	5454084,NP_006406
10558	30474871	Disease	p.Val144Asp	605712.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY, TYPE I	OMIM	No Domain	N/A	NULL
10558	6685579	Disease	p.Val144Asp	605712.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY, TYPE I	OMIM	55	pfam00155	5454084,NP_006406
10558	6685579	Disease	p.Val144Asp	605712.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY, TYPE I	OMIM	54	cd06454	5454084,NP_006406
10558	6685579	Disease	p.Val144Asp	605712.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY, TYPE I	OMIM	160	COG0156	5454084,NP_006406
10558	30474871	Disease	p.Gly387Ala	605712.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY, TYPE I	OMIM	No Domain	N/A	NULL
10558	6685579	Disease	p.Gly387Ala	605712.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY, TYPE I	OMIM	415	pfam00155	5454084,NP_006406
10558	6685579	Disease	p.Gly387Ala	605712.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY, TYPE I	OMIM	325	cd06454	5454084,NP_006406
10558	6685579	Disease	p.Gly387Ala	605712.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY, TYPE I	OMIM	453	COG0156	5454084,NP_006406
10558	30474871	Disease	p.Ser331Phe	605712.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE	OMIM	No Domain	N/A	NULL
10558	6685579	Disease	p.Ser331Phe	605712.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE	OMIM	346	pfam00155	5454084,NP_006406
10558	6685579	Disease	p.Ser331Phe	605712.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE	OMIM	264	cd06454	5454084,NP_006406
10558	6685579	Disease	p.Ser331Phe	605712.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE	OMIM	384	COG0156	5454084,NP_006406
10558	30474871	Disease	p.Ala352Val	605712.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY, TYPE I	OMIM	No Domain	N/A	NULL
10558	6685579	Disease	p.Ala352Val	605712.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY, TYPE I	OMIM	370	pfam00155	5454084,NP_006406
10558	6685579	Disease	p.Ala352Val	605712.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY, TYPE I	OMIM	285	cd06454	5454084,NP_006406
10558	6685579	Disease	p.Ala352Val	605712.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605712	NEUROPATHY, HEREDITARY SENSORY, TYPE I	OMIM	408	COG0156	5454084,NP_006406
9217	24638339	Disease	p.Pro56Ser	605704.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605704	AMYOTROPHIC LATERAL SCLEROSIS 8||SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE||AMYOTROPHIC LATERAL SCLEROSIS, TYPICAL	OMIM	50	COG5066	4759302,NP_004729
9217	24638339	Disease	p.Pro56Ser	605704.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605704	AMYOTROPHIC LATERAL SCLEROSIS 8||SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE||AMYOTROPHIC LATERAL SCLEROSIS, TYPICAL	OMIM	62	pfam00635	4759302,NP_004729
9217	307574674	Disease	p.Pro56Ser	605704.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605704	AMYOTROPHIC LATERAL SCLEROSIS 8||SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE||AMYOTROPHIC LATERAL SCLEROSIS, TYPICAL	OMIM	62	pfam00635	NULL
25793	74229029	Disease	p.Arg378Gly	605648.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605648	PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
25793	13124249	Disease	p.Arg378Gly	605648.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605648	PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	74229027,NP_036311
25793	74229029	Disease	p.Thr22Met	605648.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605648	PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
25793	13124249	Disease	p.Thr22Met	605648.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605648	PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	74229027,NP_036311
5172	6174895	Disease	p.Phe667Cys	605646.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	PENDRED SYNDROME	OMIM	204	cd07042	4505697,NP_000432
5172	6174895	Disease	p.Phe667Cys	605646.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	PENDRED SYNDROME	OMIM	140	pfam01740	4505697,NP_000432
5172	6174895	Disease	p.Gly497Ser	605646.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	ENLARGED VESTIBULAR AQUEDUCT	OMIM	549	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Leu236Pro	605646.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	PENDRED SYNDROME	OMIM	34	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Leu236Pro	605646.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	PENDRED SYNDROME	OMIM	230	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Thr416Pro	605646.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	PENDRED SYNDROME	OMIM	253	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Thr416Pro	605646.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	PENDRED SYNDROME	OMIM	466	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Glu384Gly	605646.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	PENDRED SYNDROME	OMIM	220	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Glu384Gly	605646.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	PENDRED SYNDROME	OMIM	433	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Gly209Val	605646.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	ENLARGED VESTIBULAR AQUEDUCT	OMIM	7	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Gly209Val	605646.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	ENLARGED VESTIBULAR AQUEDUCT	OMIM	203	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Lys369Glu	605646.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	ENLARGED VESTIBULAR AQUEDUCT	OMIM	204	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Lys369Glu	605646.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	ENLARGED VESTIBULAR AQUEDUCT	OMIM	416	COG0659	4505697,NP_000432
5172	6174895	Disease	p.His723Arg	605646.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	ENLARGED VESTIBULAR AQUEDUCT||PENDRED SYNDROME	OMIM	213	pfam01740	4505697,NP_000432
5172	6174895	Disease	p.Thr721Met	605646.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	ENLARGED VESTIBULAR AQUEDUCT||PENDRED SYNDROME	OMIM	211	pfam01740	4505697,NP_000432
5172	6174895	Disease	p.Ala372Val	605646.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	ENLARGED VESTIBULAR AQUEDUCT	OMIM	207	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Ala372Val	605646.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	ENLARGED VESTIBULAR AQUEDUCT	OMIM	419	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Leu445Trp	605646.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	PENDRED SYNDROME	OMIM	282	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Leu445Trp	605646.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	PENDRED SYNDROME	OMIM	495	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Thr193Ile	605646.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	PENDRED SYNDROME	OMIM	187	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Ser133Thr	605646.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	PENDRED SYNDROME	OMIM	106	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Val138Phe	605646.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	PENDRED SYNDROME	OMIM	112	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Tyr530His	605646.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	PENDRED SYNDROME	OMIM	582	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Glu384Gly	605646.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	PENDRED SYNDROME	OMIM	220	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Glu384Gly	605646.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	PENDRED SYNDROME	OMIM	433	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Glu29Gln	605646.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	ENLARGED VESTIBULAR AQUEDUCT	OMIM	No Domain	N/A	4505697,NP_000432
5172	6174895	Disease	p.Gln514Lys	605646.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	ENLARGED VESTIBULAR AQUEDUCT	OMIM	566	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Phe335Leu	605646.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	ENLARGED VESTIBULAR AQUEDUCT, DIGENIC	OMIM	164	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Phe335Leu	605646.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605646	ENLARGED VESTIBULAR AQUEDUCT, DIGENIC	OMIM	373	COG0659	4505697,NP_000432
54716	46397768	Disease	p.Thr199Met	605616.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605616	HYPERGLYCINURIA||IMINOGLYCINURIA, DIGENIC	OMIM	211	COG0733	11181770,NP_064593
54716	46397768	Disease	p.Thr199Met	605616.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605616	HYPERGLYCINURIA||IMINOGLYCINURIA, DIGENIC	OMIM	237	pfam00209	11181770,NP_064593
54716	12408638	Disease	p.Thr199Met	605616.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605616	HYPERGLYCINURIA||IMINOGLYCINURIA, DIGENIC	OMIM	256	COG0733	NULL
54716	12408638	Disease	p.Thr199Met	605616.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605616	HYPERGLYCINURIA||IMINOGLYCINURIA, DIGENIC	OMIM	274	pfam00209	NULL
11284	50401132	Disease	p.Glu326Lys	605610.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605610	MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY	OMIM	331	pfam08645	31543419,NP_009185
11284	50401132	Disease	p.Glu326Lys	605610.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605610	MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY	OMIM	192	COG0241	31543419,NP_009185
11284	50401132	Disease	p.Leu176Phe	605610.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605610	MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY	OMIM	13	pfam08645	31543419,NP_009185
11284	50401132	Disease	p.Leu176Phe	605610.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605610	MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY	OMIM	21	COG0241	31543419,NP_009185
11284	50401132	Disease	p.Leu176Phe	605610.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605610	MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY	OMIM	10	cd01427	31543419,NP_009185
23562	6685304	Disease	p.Val85Asp	605608.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605608	DEAFNESS, AUTOSOMAL RECESSIVE 29	OMIM	95	pfam00822	6912314,NP_036262|225703140,NP_001139550|225703142,NP_001139551|21536294,NP_652763|225703138,NP_001139549
23562	6685304	Disease	p.Val85Asp	605608.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605608	DEAFNESS, AUTOSOMAL RECESSIVE 29	OMIM	95	pfam00822	6912314,NP_036262|225703140,NP_001139550|225703142,NP_001139551|21536294,NP_652763|225703138,NP_001139549
23562	6685304	Disease	p.Val85Asp	605608.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605608	DEAFNESS, AUTOSOMAL RECESSIVE 29	OMIM	95	pfam00822	6912314,NP_036262|225703140,NP_001139550|225703142,NP_001139551|21536294,NP_652763|225703138,NP_001139549
23562	6685304	Disease	p.Val85Asp	605608.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605608	DEAFNESS, AUTOSOMAL RECESSIVE 29	OMIM	95	pfam00822	6912314,NP_036262|225703140,NP_001139550|225703142,NP_001139551|21536294,NP_652763|225703138,NP_001139549
23562	6685304	Disease	p.Val85Asp	605608.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605608	DEAFNESS, AUTOSOMAL RECESSIVE 29	OMIM	95	pfam00822	6912314,NP_036262|225703140,NP_001139550|225703142,NP_001139551|21536294,NP_652763|225703138,NP_001139549
23562	6685304	Disease	p.Gly101Arg	605608.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605608	DEAFNESS, AUTOSOMAL RECESSIVE 29	OMIM	115	pfam00822	6912314,NP_036262|225703140,NP_001139550|225703142,NP_001139551|21536294,NP_652763|225703138,NP_001139549
23562	6685304	Disease	p.Gly101Arg	605608.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605608	DEAFNESS, AUTOSOMAL RECESSIVE 29	OMIM	115	pfam00822	6912314,NP_036262|225703140,NP_001139550|225703142,NP_001139551|21536294,NP_652763|225703138,NP_001139549
23562	6685304	Disease	p.Gly101Arg	605608.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605608	DEAFNESS, AUTOSOMAL RECESSIVE 29	OMIM	115	pfam00822	6912314,NP_036262|225703140,NP_001139550|225703142,NP_001139551|21536294,NP_652763|225703138,NP_001139549
23562	6685304	Disease	p.Gly101Arg	605608.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605608	DEAFNESS, AUTOSOMAL RECESSIVE 29	OMIM	115	pfam00822	6912314,NP_036262|225703140,NP_001139550|225703142,NP_001139551|21536294,NP_652763|225703138,NP_001139549
23562	6685304	Disease	p.Gly101Arg	605608.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605608	DEAFNESS, AUTOSOMAL RECESSIVE 29	OMIM	115	pfam00822	6912314,NP_036262|225703140,NP_001139550|225703142,NP_001139551|21536294,NP_652763|225703138,NP_001139549
668	13626838	Disease	p.Ile84Ser	605597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605597	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I	OMIM	53	pfam00250	12751477,NP_075555
668	13626838	Disease	p.Ile84Ser	605597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605597	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I	OMIM	32	cd00059	12751477,NP_075555
668	13626838	Disease	p.Ile84Ser	605597.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605597	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I	OMIM	32	smart00339	12751477,NP_075555
668	13626838	Disease	p.Tyr258Asn	605597.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605597	PREMATURE OVARIAN FAILURE 3	OMIM	No Domain	N/A	12751477,NP_075555
668	13626838	Disease	p.Gly187Asp	605597.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605597	PREMATURE OVARIAN FAILURE 3	OMIM	No Domain	N/A	12751477,NP_075555
3293	1169300	Disease	p.Ser232Leu	605573.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	210	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Ser232Leu	605573.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	210	COG4221	4557649,NP_000188
3293	1169300	Disease	p.Ser232Leu	605573.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	191	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Ser232Leu	605573.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	534	COG1028	4557649,NP_000188
3293	1169300	Disease	p.Met235Val	605573.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	213	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Met235Val	605573.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	227	COG4221	4557649,NP_000188
3293	1169300	Disease	p.Met235Val	605573.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	194	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Met235Val	605573.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	543	COG1028	4557649,NP_000188
3293	1169300	Disease	p.Arg80Gln	605573.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	34	pfam00106	4557649,NP_000188
3293	1169300	Disease	p.Arg80Gln	605573.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	38	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Arg80Gln	605573.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	52	COG4221	4557649,NP_000188
3293	1169300	Disease	p.Arg80Gln	605573.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	37	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Arg80Gln	605573.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	50	COG1028	4557649,NP_000188
3293	1169300	Disease	p.Ala203Val	605573.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	211	pfam00106	4557649,NP_000188
3293	1169300	Disease	p.Ala203Val	605573.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	179	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Ala203Val	605573.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	178	COG4221	4557649,NP_000188
3293	1169300	Disease	p.Ala203Val	605573.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	159	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Ala203Val	605573.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	484	COG1028	4557649,NP_000188
3293	1169300	Disease	p.Arg80Trp	605573.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	34	pfam00106	4557649,NP_000188
3293	1169300	Disease	p.Arg80Trp	605573.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	38	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Arg80Trp	605573.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	52	COG4221	4557649,NP_000188
3293	1169300	Disease	p.Arg80Trp	605573.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	37	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Arg80Trp	605573.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	50	COG1028	4557649,NP_000188
3293	1169300	Disease	p.Ala56Thr	605573.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	8	pfam00106	4557649,NP_000188
3293	1169300	Disease	p.Ala56Thr	605573.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	14	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Ala56Thr	605573.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	25	COG4221	4557649,NP_000188
3293	1169300	Disease	p.Ala56Thr	605573.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	13	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Ala56Thr	605573.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	13	COG1028	4557649,NP_000188
3293	1169300	Disease	p.Asn130Ser	605573.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	118	pfam00106	4557649,NP_000188
3293	1169300	Disease	p.Asn130Ser	605573.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	93	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Asn130Ser	605573.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	105	COG4221	4557649,NP_000188
3293	1169300	Disease	p.Asn130Ser	605573.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	84	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Asn130Ser	605573.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	197	COG1028	4557649,NP_000188
3293	1169300	Disease	p.Cys268Tyr	605573.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	268	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Cys268Tyr	605573.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	230	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Cys268Tyr	605573.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605573	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	OMIM	654	COG1028	4557649,NP_000188
65078	25453267	Disease	p.Arg119Trp	605566.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605566	SCHIZOPHRENIA, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	13194201,NP_075380
65078	25453267	Disease	p.Arg196His	605566.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605566	SCHIZOPHRENIA, SUSCEPTIBILITY TO	OMIM	25	smart00370	13194201,NP_075380
65078	25453267	Disease	p.Arg196His	605566.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605566	SCHIZOPHRENIA, SUSCEPTIBILITY TO	OMIM	25	smart00369	13194201,NP_075380
54998	30912743	Disease	p.Arg304Gln	605555.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605555	PITUITARY ADENOMA, ACTH-SECRETING	OMIM	No Domain	N/A	187829340,NP_001120701|8923565,NP_060370|187829360,NP_001120702
54998	30912743	Disease	p.Arg304Gln	605555.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605555	PITUITARY ADENOMA, ACTH-SECRETING	OMIM	No Domain	N/A	187829340,NP_001120701|8923565,NP_060370|187829360,NP_001120702
54998	30912743	Disease	p.Arg304Gln	605555.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605555	PITUITARY ADENOMA, ACTH-SECRETING	OMIM	No Domain	N/A	187829340,NP_001120701|8923565,NP_060370|187829360,NP_001120702
9663	2495724	Disease	p.Ser734Leu	605519.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605519	MAJEED SYNDROME	OMIM	60	smart00775	7662022,NP_055461
9663	2495724	Disease	p.Ser734Leu	605519.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605519	MAJEED SYNDROME	OMIM	51	pfam08235	7662022,NP_055461
9663	2495724	Disease	p.Ser734Leu	605519.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605519	MAJEED SYNDROME	OMIM	454	COG5083	7662022,NP_055461
64072	284925128	Disease	p.Gln1496His	605516.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID	OMIM	No Domain	N/A	NULL
64072	284925134	Disease	p.Gln1496His	605516.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID	OMIM	No Domain	N/A	NULL
64072	189571674	Disease	p.Gln1496His	605516.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID	OMIM	129	cd00031	NULL
64072	189571674	Disease	p.Gln1496His	605516.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID	OMIM	92	smart00112	NULL
64072	189571674	Disease	p.Gln1496His	605516.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID	OMIM	98	pfam00028	NULL
64072	284925130	Disease	p.Gln1496His	605516.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID	OMIM	No Domain	N/A	NULL
64072	284925138	Disease	p.Gln1496His	605516.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID	OMIM	No Domain	N/A	NULL
64072	16507964	Disease	p.Gln1496His	605516.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID	OMIM	No Domain	N/A	NULL
64072	284925136	Disease	p.Gln1496His	605516.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID	OMIM	No Domain	N/A	NULL
64072	284925140	Disease	p.Gln1496His	605516.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID	OMIM	No Domain	N/A	NULL
64072	284925132	Disease	p.Gln1496His	605516.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID	OMIM	No Domain	N/A	NULL
64072	284925128	Disease	p.Arg1746Gln	605516.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID	OMIM	No Domain	N/A	NULL
64072	284925134	Disease	p.Arg1746Gln	605516.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID	OMIM	No Domain	N/A	NULL
64072	189571674	Disease	p.Arg1746Gln	605516.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID	OMIM	188	cd00031	NULL
64072	284925130	Disease	p.Arg1746Gln	605516.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID	OMIM	No Domain	N/A	NULL
64072	284925138	Disease	p.Arg1746Gln	605516.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID	OMIM	No Domain	N/A	NULL
64072	16507964	Disease	p.Arg1746Gln	605516.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID	OMIM	No Domain	N/A	NULL
64072	284925136	Disease	p.Arg1746Gln	605516.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID	OMIM	No Domain	N/A	NULL
64072	284925140	Disease	p.Arg1746Gln	605516.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID	OMIM	No Domain	N/A	NULL
64072	284925132	Disease	p.Arg1746Gln	605516.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID	OMIM	No Domain	N/A	NULL
64072	284925128	Disease	p.Asp1243Asn	605516.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	35	pfam00028	NULL
64072	284925128	Disease	p.Asp1243Asn	605516.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	249	cd00031	NULL
64072	284925128	Disease	p.Asp1243Asn	605516.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	13	smart00112	NULL
64072	284925134	Disease	p.Asp1243Asn	605516.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	189571674	Disease	p.Asp1243Asn	605516.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	49	cd00031	NULL
64072	189571674	Disease	p.Asp1243Asn	605516.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	35	pfam00028	NULL
64072	189571674	Disease	p.Asp1243Asn	605516.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	13	smart00112	NULL
64072	284925130	Disease	p.Asp1243Asn	605516.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925138	Disease	p.Asp1243Asn	605516.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	16507964	Disease	p.Asp1243Asn	605516.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925136	Disease	p.Asp1243Asn	605516.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925140	Disease	p.Asp1243Asn	605516.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925132	Disease	p.Asp1243Asn	605516.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925128	Disease	p.Asp1400Asn	605516.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925134	Disease	p.Asp1400Asn	605516.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	189571674	Disease	p.Asp1400Asn	605516.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	141	smart00112	NULL
64072	189571674	Disease	p.Asp1400Asn	605516.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	356	cd00031	NULL
64072	189571674	Disease	p.Asp1400Asn	605516.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	120	pfam00028	NULL
64072	284925130	Disease	p.Asp1400Asn	605516.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925138	Disease	p.Asp1400Asn	605516.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	16507964	Disease	p.Asp1400Asn	605516.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925136	Disease	p.Asp1400Asn	605516.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925140	Disease	p.Asp1400Asn	605516.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925132	Disease	p.Asp1400Asn	605516.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925128	Disease	p.Asp2148Asn	605516.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925134	Disease	p.Asp2148Asn	605516.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	189571674	Disease	p.Asp2148Asn	605516.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	103	pfam00028	NULL
64072	189571674	Disease	p.Asp2148Asn	605516.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	134	cd00031	NULL
64072	189571674	Disease	p.Asp2148Asn	605516.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	97	smart00112	NULL
64072	284925130	Disease	p.Asp2148Asn	605516.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925138	Disease	p.Asp2148Asn	605516.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	16507964	Disease	p.Asp2148Asn	605516.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925136	Disease	p.Asp2148Asn	605516.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925140	Disease	p.Asp2148Asn	605516.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925132	Disease	p.Asp2148Asn	605516.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925128	Disease	p.Asp1341Asn	605516.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925134	Disease	p.Asp1341Asn	605516.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	189571674	Disease	p.Asp1341Asn	605516.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	4	smart00112	NULL
64072	189571674	Disease	p.Asp1341Asn	605516.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	236	cd00031	NULL
64072	189571674	Disease	p.Asp1341Asn	605516.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	26	pfam00028	NULL
64072	284925130	Disease	p.Asp1341Asn	605516.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925138	Disease	p.Asp1341Asn	605516.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	16507964	Disease	p.Asp1341Asn	605516.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925136	Disease	p.Asp1341Asn	605516.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925140	Disease	p.Asp1341Asn	605516.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925132	Disease	p.Asp1341Asn	605516.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925128	Disease	p.Phe1888Ser	605516.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925134	Disease	p.Phe1888Ser	605516.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	189571674	Disease	p.Phe1888Ser	605516.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	38	pfam00028	NULL
64072	189571674	Disease	p.Phe1888Ser	605516.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	52	cd00031	NULL
64072	189571674	Disease	p.Phe1888Ser	605516.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	21	smart00112	NULL
64072	284925130	Disease	p.Phe1888Ser	605516.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925138	Disease	p.Phe1888Ser	605516.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	16507964	Disease	p.Phe1888Ser	605516.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925136	Disease	p.Phe1888Ser	605516.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925140	Disease	p.Phe1888Ser	605516.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925132	Disease	p.Phe1888Ser	605516.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925128	Disease	p.Arg3189Trp	605516.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, DIGENIC, TYPE ID/F	OMIM	No Domain	N/A	NULL
64072	284925134	Disease	p.Arg3189Trp	605516.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, DIGENIC, TYPE ID/F	OMIM	No Domain	N/A	NULL
64072	189571674	Disease	p.Arg3189Trp	605516.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, DIGENIC, TYPE ID/F	OMIM	No Domain	N/A	NULL
64072	284925130	Disease	p.Arg3189Trp	605516.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, DIGENIC, TYPE ID/F	OMIM	No Domain	N/A	NULL
64072	284925138	Disease	p.Arg3189Trp	605516.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, DIGENIC, TYPE ID/F	OMIM	No Domain	N/A	NULL
64072	16507964	Disease	p.Arg3189Trp	605516.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, DIGENIC, TYPE ID/F	OMIM	No Domain	N/A	NULL
64072	284925136	Disease	p.Arg3189Trp	605516.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, DIGENIC, TYPE ID/F	OMIM	No Domain	N/A	NULL
64072	284925140	Disease	p.Arg3189Trp	605516.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, DIGENIC, TYPE ID/F	OMIM	No Domain	N/A	NULL
64072	284925132	Disease	p.Arg3189Trp	605516.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, DIGENIC, TYPE ID/F	OMIM	No Domain	N/A	NULL
64072	284925128	Disease	p.Thr1209Ala	605516.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID||USHER SYNDROME, DIGENIC, TYPE ID/F	OMIM	180	cd00031	NULL
64072	284925134	Disease	p.Thr1209Ala	605516.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID||USHER SYNDROME, DIGENIC, TYPE ID/F	OMIM	No Domain	N/A	NULL
64072	189571674	Disease	p.Thr1209Ala	605516.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID||USHER SYNDROME, DIGENIC, TYPE ID/F	OMIM	No Domain	N/A	NULL
64072	284925130	Disease	p.Thr1209Ala	605516.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID||USHER SYNDROME, DIGENIC, TYPE ID/F	OMIM	No Domain	N/A	NULL
64072	284925138	Disease	p.Thr1209Ala	605516.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID||USHER SYNDROME, DIGENIC, TYPE ID/F	OMIM	No Domain	N/A	NULL
64072	16507964	Disease	p.Thr1209Ala	605516.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID||USHER SYNDROME, DIGENIC, TYPE ID/F	OMIM	No Domain	N/A	NULL
64072	284925136	Disease	p.Thr1209Ala	605516.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID||USHER SYNDROME, DIGENIC, TYPE ID/F	OMIM	No Domain	N/A	NULL
64072	284925140	Disease	p.Thr1209Ala	605516.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID||USHER SYNDROME, DIGENIC, TYPE ID/F	OMIM	No Domain	N/A	NULL
64072	284925132	Disease	p.Thr1209Ala	605516.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	USHER SYNDROME, TYPE ID||USHER SYNDROME, DIGENIC, TYPE ID/F	OMIM	No Domain	N/A	NULL
64072	284925128	Disease	p.Pro240Leu	605516.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925134	Disease	p.Pro240Leu	605516.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	104	pfam00028	NULL
64072	284925134	Disease	p.Pro240Leu	605516.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	342	cd00031	NULL
64072	284925134	Disease	p.Pro240Leu	605516.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	98	smart00112	NULL
64072	189571674	Disease	p.Pro240Leu	605516.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925130	Disease	p.Pro240Leu	605516.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925138	Disease	p.Pro240Leu	605516.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	16507964	Disease	p.Pro240Leu	605516.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925136	Disease	p.Pro240Leu	605516.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	104	pfam00028	NULL
64072	284925136	Disease	p.Pro240Leu	605516.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	342	cd00031	NULL
64072	284925136	Disease	p.Pro240Leu	605516.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	98	smart00112	NULL
64072	284925140	Disease	p.Pro240Leu	605516.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925132	Disease	p.Pro240Leu	605516.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925128	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	80	pfam00028	NULL
64072	284925128	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	111	cd00031	NULL
64072	284925128	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	74	smart00112	NULL
64072	284925134	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	33	pfam00028	NULL
64072	284925134	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	47	cd00031	NULL
64072	284925134	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	11	smart00112	NULL
64072	189571674	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	74	smart00112	NULL
64072	189571674	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	80	pfam00028	NULL
64072	284925130	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	80	pfam00028	NULL
64072	284925130	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	111	cd00031	NULL
64072	284925130	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	74	smart00112	NULL
64072	284925138	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	16507964	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	111	cd00031	NULL
64072	16507964	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	74	smart00112	NULL
64072	16507964	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	80	pfam00028	NULL
64072	284925136	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	33	pfam00028	NULL
64072	284925136	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	47	cd00031	NULL
64072	284925136	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	11	smart00112	NULL
64072	284925140	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	No Domain	N/A	NULL
64072	284925132	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	111	cd00031	NULL
64072	284925132	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	74	smart00112	NULL
64072	284925132	Disease	p.Arg301Gln	605516.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605516	DEAFNESS, AUTOSOMAL RECESSIVE 12	OMIM	80	pfam00028	NULL
65217	116242702	Disease	p.Gly262Asp	605514.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	176	cd00031	115387123,NP_149045
65217	116242702	Disease	p.Gly262Asp	605514.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	156	smart00112	115387123,NP_149045
65217	218505785	Disease	p.Gly262Asp	605514.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	192	cd00031	NULL
65217	218505777	Disease	p.Gly262Asp	605514.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	176	cd00031	NULL
65217	218505791	Disease	p.Gly262Asp	605514.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	151	smart00112	NULL
65217	218505791	Disease	p.Gly262Asp	605514.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	169	cd00031	NULL
65217	218505793	Disease	p.Gly262Asp	605514.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	No Domain	N/A	NULL
65217	218505779	Disease	p.Gly262Asp	605514.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	156	smart00112	NULL
65217	218505789	Disease	p.Gly262Asp	605514.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	176	cd00031	NULL
65217	218505789	Disease	p.Gly262Asp	605514.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	156	smart00112	NULL
65217	218505783	Disease	p.Gly262Asp	605514.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	No Domain	N/A	NULL
65217	218505798	Disease	p.Gly262Asp	605514.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	No Domain	N/A	NULL
65217	218505787	Disease	p.Gly262Asp	605514.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	151	smart00112	NULL
65217	218505787	Disease	p.Gly262Asp	605514.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	169	cd00031	NULL
65217	218505781	Disease	p.Gly262Asp	605514.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	176	cd00031	NULL
65217	218505781	Disease	p.Gly262Asp	605514.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	156	smart00112	NULL
65217	218505775	Disease	p.Gly262Asp	605514.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	151	smart00112	NULL
65217	116242702	Disease	p.Arg134Gly	605514.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	No Domain	N/A	115387123,NP_149045
65217	218505785	Disease	p.Arg134Gly	605514.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	5	pfam00028	NULL
65217	218505785	Disease	p.Arg134Gly	605514.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	6	cd00031	NULL
65217	218505777	Disease	p.Arg134Gly	605514.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	No Domain	N/A	NULL
65217	218505791	Disease	p.Arg134Gly	605514.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	No Domain	N/A	NULL
65217	218505793	Disease	p.Arg134Gly	605514.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	No Domain	N/A	NULL
65217	218505779	Disease	p.Arg134Gly	605514.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	164	cd00031	NULL
65217	218505789	Disease	p.Arg134Gly	605514.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	No Domain	N/A	NULL
65217	218505783	Disease	p.Arg134Gly	605514.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	No Domain	N/A	NULL
65217	218505798	Disease	p.Arg134Gly	605514.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	5	pfam00028	NULL
65217	218505787	Disease	p.Arg134Gly	605514.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	No Domain	N/A	NULL
65217	218505781	Disease	p.Arg134Gly	605514.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	No Domain	N/A	NULL
65217	218505775	Disease	p.Arg134Gly	605514.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605514	DEAFNESS, AUTOSOMAL RECESSIVE 23	OMIM	No Domain	N/A	NULL
56649	291167775	Disease	p.Trp251Cys	605511.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	78	pfam00089	NULL
56649	291167775	Disease	p.Trp251Cys	605511.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	83	cd00190	NULL
56649	291167775	Disease	p.Trp251Cys	605511.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	91	smart00020	NULL
56649	291167777	Disease	p.Trp251Cys	605511.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	151	cd00190	NULL
56649	291167777	Disease	p.Trp251Cys	605511.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	144	pfam00089	NULL
56649	291167777	Disease	p.Trp251Cys	605511.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	251	smart00020	NULL
56649	145701030	Disease	p.Trp251Cys	605511.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	86	cd00190	NULL
56649	145701030	Disease	p.Trp251Cys	605511.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	81	pfam00089	NULL
56649	145701030	Disease	p.Trp251Cys	605511.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	95	smart00020	NULL
56649	13633980	Disease	p.Trp251Cys	605511.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	66	cd00190	15451940,NP_063947
56649	13633980	Disease	p.Trp251Cys	605511.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	76	pfam00089	15451940,NP_063947
56649	13633980	Disease	p.Trp251Cys	605511.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	76	smart00020	15451940,NP_063947
56649	291167775	Disease	p.Pro404Leu	605511.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10||DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8	OMIM	313	pfam00089	NULL
56649	291167775	Disease	p.Pro404Leu	605511.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10||DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8	OMIM	378	cd00190	NULL
56649	291167775	Disease	p.Pro404Leu	605511.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10||DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8	OMIM	530	smart00020	NULL
56649	291167777	Disease	p.Pro404Leu	605511.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10||DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8	OMIM	No Domain	N/A	NULL
56649	145701030	Disease	p.Pro404Leu	605511.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10||DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8	OMIM	381	cd00190	NULL
56649	145701030	Disease	p.Pro404Leu	605511.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10||DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8	OMIM	318	pfam00089	NULL
56649	145701030	Disease	p.Pro404Leu	605511.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10||DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8	OMIM	541	smart00020	NULL
56649	13633980	Disease	p.Pro404Leu	605511.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10||DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8	OMIM	376	cd00190	15451940,NP_063947
56649	13633980	Disease	p.Pro404Leu	605511.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10||DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8	OMIM	307	pfam00089	15451940,NP_063947
56649	13633980	Disease	p.Pro404Leu	605511.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10||DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8	OMIM	528	smart00020	15451940,NP_063947
56649	291167775	Disease	p.Arg216Leu	605511.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	18	pfam00089	NULL
56649	291167775	Disease	p.Arg216Leu	605511.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	18	cd00190	NULL
56649	291167775	Disease	p.Arg216Leu	605511.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	21	smart00020	NULL
56649	291167777	Disease	p.Arg216Leu	605511.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	86	cd00190	NULL
56649	291167777	Disease	p.Arg216Leu	605511.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	81	pfam00089	NULL
56649	291167777	Disease	p.Arg216Leu	605511.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	95	smart00020	NULL
56649	145701030	Disease	p.Arg216Leu	605511.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	21	cd00190	NULL
56649	145701030	Disease	p.Arg216Leu	605511.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	21	pfam00089	NULL
56649	145701030	Disease	p.Arg216Leu	605511.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	24	smart00020	NULL
56649	13633980	Disease	p.Arg216Leu	605511.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	16	cd00190	15451940,NP_063947
56649	13633980	Disease	p.Arg216Leu	605511.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	12	pfam00089	15451940,NP_063947
56649	13633980	Disease	p.Arg216Leu	605511.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605511	DEAFNESS, AUTOSOMAL RECESSIVE 10	OMIM	19	smart00020	15451940,NP_063947
10491	17372894	Disease	p.Met1Ile	605497.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605497	OSTEOGENESIS IMPERFECTA, TYPE IIB	OMIM	No Domain	N/A	5453601,NP_006362
64241	17432916	Disease	p.Gly574Arg	605460.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	253	pfam01061	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	202	COG4778	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	202	COG4148	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	213	COG1118	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	193	COG4161	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	189	COG4133	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	188	cd03295	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	180	cd03299	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	220	cd03259	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	538	COG1122	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	218	COG1101	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	228	COG1136	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	333	cd03223	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	320	cd03249	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	181	COG4152	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	188	cd03268	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	183	cd03265	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	230	COG4586	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	300	COG1124	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	223	cd03254	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	188	cd03292	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	209	cd03224	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	210	COG0410	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	193	cd03245	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	174	cd03300	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	274	cd03263	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	366	cd03228	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	259	COG1119	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	220	COG1127	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	208	COG3638	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	182	COG3840	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	210	cd03261	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	356	cd03215	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	191	COG4619	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	463	cd03257	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	179	cd03298	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	223	cd03232	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	189	cd03252	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	236	cd03229	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	301	cd03234	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	237	cd03244	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	306	COG1123	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	201	COG1137	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	208	cd03256	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	193	cd03246	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	287	cd03271	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	187	COG4604	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	516	COG0444	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	195	cd03247	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	200	cd03266	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	265	cd03214	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	201	cd03297	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	200	cd03235	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	230	cd03225	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	228	cd03216	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	215	cd03253	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	208	cd03251	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	237	COG1126	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	193	COG1125	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	221	cd03262	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	206	COG1121	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	422	COG3842	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	195	COG4559	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	216	COG1134	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	476	COG3839	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	256	COG0411	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	249	cd03293	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	202	cd03258	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	222	cd03260	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	1348	cd00267	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	217	cd03294	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	219	cd03220	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	207	cd03267	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	307	cd03250	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	204	COG4598	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	218	COG1135	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	261	cd03248	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	186	COG2884	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	252	COG1131	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	297	cd03213	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	249	cd03301	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	188	cd03296	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	318	cd03221	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	246	cd03233	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	202	COG4181	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	192	COG4525	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	189	COG4138	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	225	COG1117	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	235	COG1116	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	204	cd03290	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	188	COG4555	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	244	COG1129	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	250	COG1120	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	208	cd03226	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	210	COG4674	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	223	cd03230	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	222	cd03255	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	217	cd03217	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	207	cd03264	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	180	cd03269	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	188	COG4136	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	196	cd03218	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	271	COG0396	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	179	cd03231	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	230	cd03219	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	797	COG4608	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	605460.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	252	COG4175	11967971,NP_071882
64241	17432916	Disease	p.Leu596Arg	605460.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	285	pfam01061	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	171	COG4778	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	151	COG4148	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	180	COG1118	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	161	COG4161	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	157	COG4133	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	155	cd03295	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	148	cd03299	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	187	cd03259	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	505	COG1122	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	167	COG1101	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	194	COG1136	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	301	cd03223	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	285	cd03249	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	149	COG4152	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	155	cd03268	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	150	cd03265	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	198	COG4586	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	268	COG1124	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	160	cd03254	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	156	cd03292	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	175	cd03224	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	178	COG0410	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	161	cd03245	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	153	cd03300	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	218	cd03263	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	325	cd03228	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	224	COG1119	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	179	COG1127	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	175	COG3638	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	148	COG3840	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	160	cd03261	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	323	cd03215	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	156	COG4619	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	428	cd03257	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	147	cd03298	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	190	cd03232	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	158	cd03252	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	203	cd03229	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	270	pfam00005	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	196	cd03234	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	205	cd03244	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	268	COG1123	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	168	COG1137	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	171	cd03256	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	160	cd03246	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	249	cd03271	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	154	COG4604	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	481	COG0444	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	163	cd03247	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	165	cd03266	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	232	cd03214	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	168	cd03297	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	167	cd03235	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	194	cd03225	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	195	cd03216	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	177	cd03253	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	177	cd03251	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	178	COG1126	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	161	COG1125	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	170	cd03262	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	173	COG1121	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	389	COG3842	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	156	COG4559	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	183	COG1134	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	434	COG3839	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	222	COG0411	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	195	cd03293	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	170	cd03258	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	185	cd03260	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	1306	cd00267	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	185	cd03294	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	186	cd03220	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	175	cd03267	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	270	cd03250	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	172	COG4598	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	186	COG1135	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	183	cd03248	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	157	COG2884	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	217	COG1131	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	242	cd03213	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	217	cd03301	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	156	cd03296	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	270	cd03221	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	213	cd03233	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	168	COG4181	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	158	COG4525	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	151	COG4138	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	192	COG1117	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	173	COG1116	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	170	cd03290	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	156	COG4555	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	205	COG1129	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	217	COG1120	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	175	cd03226	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	178	COG4674	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	188	cd03230	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	188	cd03255	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	169	cd03217	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	175	cd03264	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	148	cd03269	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	155	COG4136	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	163	cd03218	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	228	COG0396	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	147	cd03231	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	195	cd03219	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	763	COG4608	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	605460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	SITOSTEROLEMIA	OMIM	193	COG4175	11967971,NP_071882
64241	17432916	Disease	p.Asp19His	605460.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605460	GALLBLADDER DISEASE 4	OMIM	No Domain	N/A	11967971,NP_071882
64240	17432917	Disease	p.Arg419His	605459.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605459	SITOSTEROLEMIA	OMIM	75	pfam01061	11967969,NP_071881
64240	17432917	Disease	p.Arg419His	605459.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605459	SITOSTEROLEMIA	OMIM	573	COG1129	11967969,NP_071881
64240	17432917	Disease	p.Arg419His	605459.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605459	SITOSTEROLEMIA	OMIM	565	COG0488	11967969,NP_071881
64240	17432917	Disease	p.Arg419His	605459.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605459	SITOSTEROLEMIA	OMIM	613	COG1123	11967969,NP_071881
64240	17432917	Disease	p.Arg419Pro	605459.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605459	SITOSTEROLEMIA	OMIM	75	pfam01061	11967969,NP_071881
64240	17432917	Disease	p.Arg419Pro	605459.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605459	SITOSTEROLEMIA	OMIM	573	COG1129	11967969,NP_071881
64240	17432917	Disease	p.Arg419Pro	605459.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605459	SITOSTEROLEMIA	OMIM	565	COG0488	11967969,NP_071881
64240	17432917	Disease	p.Arg419Pro	605459.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605459	SITOSTEROLEMIA	OMIM	613	COG1123	11967969,NP_071881
64240	17432917	Disease	p.Arg389His	605459.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605459	SITOSTEROLEMIA	OMIM	35	pfam01061	11967969,NP_071881
64240	17432917	Disease	p.Arg389His	605459.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605459	SITOSTEROLEMIA	OMIM	493	COG1129	11967969,NP_071881
64240	17432917	Disease	p.Arg389His	605459.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605459	SITOSTEROLEMIA	OMIM	479	COG0488	11967969,NP_071881
64240	17432917	Disease	p.Arg389His	605459.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605459	SITOSTEROLEMIA	OMIM	557	COG1123	11967969,NP_071881
57096	296452882	Disease	p.Arg827Leu	605446.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605446	CONE-ROD DYSTROPHY 13	OMIM	57	cd00030	112734867,NP_065099
57096	296452882	Disease	p.Arg827Leu	605446.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605446	CONE-ROD DYSTROPHY 13	OMIM	71	pfam00168	112734867,NP_065099
57096	296452882	Disease	p.Ala547Ser	605446.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605446	CONE-ROD DYSTROPHY 13	OMIM	No Domain	N/A	112734867,NP_065099
57096	296452882	Disease	p.Asp1114Gly	605446.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605446	LEBER CONGENITAL AMAUROSIS 6	OMIM	No Domain	N/A	112734867,NP_065099
9370	2493789	Disease	p.Arg112Cys	605441.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605441	ADIPONECTIN DEFICIENCY	OMIM	7	smart00110	295317372,NP_001171271|4757760,NP_004788
9370	2493789	Disease	p.Arg112Cys	605441.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605441	ADIPONECTIN DEFICIENCY	OMIM	7	smart00110	295317372,NP_001171271|4757760,NP_004788
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	11	smart00220	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	29	cd06624	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd06637	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	20	cd05582	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	17	cd05611	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	18	cd05584	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	41	cd06654	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	39	cd06638	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	26	cd07849	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	23	cd07862	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd05612	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	25	cd06641	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd05628	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd05627	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd05034	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd05609	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd05629	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	64	COG0515	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd05601	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd05597	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd05624	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd05573	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd07847	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd07846	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd06619	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd05580	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd07837	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	23	cd06652	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	25	cd05574	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	25	cd06642	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	25	cd06640	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd05626	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd05599	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd05598	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	23	cd06609	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd05600	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	29	cd05581	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd07848	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd07833	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	23	cd06653	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd06610	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	23	cd06625	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd06608	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd06615	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd06622	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd06617	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd06917	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd06621	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd06623	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd06605	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	26	cd05050	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd05623	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd05148	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	37	cd07850	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	24	cd06613	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	26	cd07844	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	29	cd05094	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd07873	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	26	cd07870	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	24	cd06612	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd07872	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	42	cd06633	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05047	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05594	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05620	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05595	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05571	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05619	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05592	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05604	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05602	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05060	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05044	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05593	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05575	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05570	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05058	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05078	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd00192	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd06630	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd06632	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd06626	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	18	cd05116	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	28	cd05043	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05084	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05040	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05041	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05085	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05591	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05617	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05603	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05590	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05588	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05618	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	40	cd06648	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	41	cd06614	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	45	cd07875	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	16	cd05042	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	14	cd05572	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	17	cd00180	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	14	cd05579	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	14	cd05586	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	14	cd05585	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	14	cd05577	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	14	cd05608	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	14	cd05607	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	14	cd05123	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	18	cd05115	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	64	cd05621	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	43	cd07855	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd05056	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd05036	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	28	cd07864	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	30	cd06646	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	30	cd06645	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	33	cd06644	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	36	cd06607	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	36	cd06634	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	39	cd05098	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	36	cd07880	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	36	cd07878	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	43	cd06658	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	40	cd05099	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	36	cd06618	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	33	cd07865	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	33	cd05053	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	64	cd05622	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	64	cd05596	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	28	cd05111	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	28	cd07845	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	39	cd05057	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	43	cd06639	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	15	cd05633	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	15	cd05606	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	26	cd05092	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	26	cd05090	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	26	cd05064	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	26	cd06649	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	26	cd06643	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd05082	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd05068	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	30	cd05048	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd05071	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd05073	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd05070	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd05072	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	42	cd05097	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd05052	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd05067	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd05061	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	26	cd06650	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	26	cd05049	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	26	cd05046	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	24_G	cd05093	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	28	cd05122	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd07859	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd05614	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd08529	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	26	cd07854	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd05605	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd05631	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd05632	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd05630	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd07836	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd08220	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	19	cd07853	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	23	cd06651	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd05045	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd07832	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd08530	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd08225	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd08222	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd08223	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd07842	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd05578	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd08218	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd07839	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd08221	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd07860	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd08215	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd08217	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd06627	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	28	cd06606	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd07863	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd05613	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	24	cd05583	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd07857	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	23	cd07834	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd07841	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd08528	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd08219	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd07861	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd05616	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd05587	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd05615	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	26	cd07869	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	23	cd08229	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	28	cd07852	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	30	cd07866	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd07843	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	25	cd05059	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	26	cd06611	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	23	cd05089	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	26	cd07871	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21_G	cd08228	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	23	cd08224	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	46	cd06635	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	25	cd05080	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd05625	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	24	pfam07714	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	20	smart00219	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	29	cd05081	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	20	smart00221	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	24	cd07840	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	20	cd07838	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	20	cd07831	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	20	cd07830	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	20	cd05118	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	pfam00069	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd07829	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	22	cd06629	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	20	cd05589	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	20	cd07835	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	20	cd05074	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	25	cd05079	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	31	cd07856	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	20	cd05035	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	25	cd05114	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	25	cd06616	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	26	cd06620	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	25	cd05033	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	25	cd05112	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	25	cd05113	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	32	cd05032	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	28	cd05038	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	25	cd05065	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	25	cd05066	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd07858	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	28	cd05088	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	24_G	cd05039	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd05083	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	41	cd06657	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	42	cd06659	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd08216	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd06631	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	21	cd06628	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	27	cd05069	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	38	cd07877	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	40	cd06655	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	40	cd06647	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	40	cd06656	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	37	cd06636	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	42	cd07876	28557781,NP_006246
5583	281185512	Disease	p.Val374Ile	605437.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605437	CEREBRAL INFARCTION, SUSCEPTIBILITY TO	OMIM	36	cd07851	28557781,NP_006246
59341	294459971	Disease	p.Arg616Gln	605427.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	BRACHYOLMIA TYPE 3	OMIM	222	pfam00520	NULL
59341	62901470	Disease	p.Arg616Gln	605427.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	BRACHYOLMIA TYPE 3	OMIM	179	pfam00520	22547184,NP_067638
59341	294459965	Disease	p.Arg616Gln	605427.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	BRACHYOLMIA TYPE 3	OMIM	325	pfam00520	NULL
59341	294459977	Disease	p.Arg616Gln	605427.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	BRACHYOLMIA TYPE 3	OMIM	No Domain	N/A	NULL
59341	22547180	Disease	p.Arg616Gln	605427.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	BRACHYOLMIA TYPE 3	OMIM	338	pfam00520	NULL
59341	294459971	Disease	p.Val620Ile	605427.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	BRACHYOLMIA TYPE 3	OMIM	226	pfam00520	NULL
59341	62901470	Disease	p.Val620Ile	605427.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	BRACHYOLMIA TYPE 3	OMIM	183	pfam00520	22547184,NP_067638
59341	294459965	Disease	p.Val620Ile	605427.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	BRACHYOLMIA TYPE 3	OMIM	329	pfam00520	NULL
59341	294459977	Disease	p.Val620Ile	605427.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	BRACHYOLMIA TYPE 3	OMIM	No Domain	N/A	NULL
59341	22547180	Disease	p.Val620Ile	605427.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	BRACHYOLMIA TYPE 3	OMIM	342	pfam00520	NULL
59341	294459971	Disease	p.Arg594His	605427.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE	OMIM	191	pfam00520	NULL
59341	62901470	Disease	p.Arg594His	605427.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE	OMIM	148	pfam00520	22547184,NP_067638
59341	294459965	Disease	p.Arg594His	605427.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE	OMIM	213	pfam00520	NULL
59341	294459977	Disease	p.Arg594His	605427.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE	OMIM	390	pfam00520	NULL
59341	22547180	Disease	p.Arg594His	605427.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE	OMIM	226	pfam00520	NULL
59341	294459971	Disease	p.Asp333Gly	605427.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE	OMIM	359	cd00204	NULL
59341	62901470	Disease	p.Asp333Gly	605427.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE	OMIM	266	cd00204	22547184,NP_067638
59341	294459965	Disease	p.Asp333Gly	605427.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE	OMIM	No Domain	N/A	NULL
59341	294459977	Disease	p.Asp333Gly	605427.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE	OMIM	No Domain	N/A	NULL
59341	22547180	Disease	p.Asp333Gly	605427.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE	OMIM	266	cd00204	NULL
59341	294459971	Disease	p.Ala716Ser	605427.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE	OMIM	No Domain	N/A	NULL
59341	62901470	Disease	p.Ala716Ser	605427.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE	OMIM	405	pfam00520	22547184,NP_067638
59341	294459965	Disease	p.Ala716Ser	605427.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE	OMIM	No Domain	N/A	NULL
59341	294459977	Disease	p.Ala716Ser	605427.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE	OMIM	No Domain	N/A	NULL
59341	22547180	Disease	p.Ala716Ser	605427.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE	OMIM	No Domain	N/A	NULL
59341	294459971	Disease	p.Ile331Phe	605427.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	METATROPIC DYSPLASIA	OMIM	357	cd00204	NULL
59341	62901470	Disease	p.Ile331Phe	605427.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	METATROPIC DYSPLASIA	OMIM	264	cd00204	22547184,NP_067638
59341	294459965	Disease	p.Ile331Phe	605427.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	METATROPIC DYSPLASIA	OMIM	No Domain	N/A	NULL
59341	294459977	Disease	p.Ile331Phe	605427.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	METATROPIC DYSPLASIA	OMIM	No Domain	N/A	NULL
59341	22547180	Disease	p.Ile331Phe	605427.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	METATROPIC DYSPLASIA	OMIM	264	cd00204	NULL
59341	294459971	Disease	p.Pro799Leu	605427.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	METATROPIC DYSPLASIA	OMIM	No Domain	N/A	NULL
59341	62901470	Disease	p.Pro799Leu	605427.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	METATROPIC DYSPLASIA	OMIM	No Domain	N/A	22547184,NP_067638
59341	294459965	Disease	p.Pro799Leu	605427.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	METATROPIC DYSPLASIA	OMIM	No Domain	N/A	NULL
59341	294459977	Disease	p.Pro799Leu	605427.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	METATROPIC DYSPLASIA	OMIM	No Domain	N/A	NULL
59341	22547180	Disease	p.Pro799Leu	605427.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	METATROPIC DYSPLASIA	OMIM	No Domain	N/A	NULL
59341	294459971	Disease	p.Arg315Trp	605427.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE||SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY||HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC	OMIM	301	cd00204	NULL
59341	62901470	Disease	p.Arg315Trp	605427.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE||SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY||HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC	OMIM	199	cd00204	22547184,NP_067638
59341	294459965	Disease	p.Arg315Trp	605427.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE||SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY||HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC	OMIM	No Domain	N/A	NULL
59341	294459977	Disease	p.Arg315Trp	605427.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE||SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY||HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC	OMIM	No Domain	N/A	NULL
59341	22547180	Disease	p.Arg315Trp	605427.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE||SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY||HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC	OMIM	199	cd00204	NULL
59341	294459971	Disease	p.Arg269His	605427.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE||HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC	OMIM	160	cd00204	NULL
59341	62901470	Disease	p.Arg269His	605427.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE||HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC	OMIM	83	cd00204	22547184,NP_067638
59341	294459965	Disease	p.Arg269His	605427.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE||HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC	OMIM	No Domain	N/A	NULL
59341	294459977	Disease	p.Arg269His	605427.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE||HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC	OMIM	No Domain	N/A	NULL
59341	22547180	Disease	p.Arg269His	605427.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE||HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC	OMIM	83	cd00204	NULL
59341	294459971	Disease	p.Arg316Cys	605427.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC||SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY	OMIM	302	cd00204	NULL
59341	62901470	Disease	p.Arg316Cys	605427.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC||SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY	OMIM	200	cd00204	22547184,NP_067638
59341	294459965	Disease	p.Arg316Cys	605427.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC||SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY	OMIM	No Domain	N/A	NULL
59341	294459977	Disease	p.Arg316Cys	605427.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC||SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY	OMIM	No Domain	N/A	NULL
59341	22547180	Disease	p.Arg316Cys	605427.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC||SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY	OMIM	200	cd00204	NULL
59341	294459971	Disease	p.Arg269Cys	605427.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC	OMIM	160	cd00204	NULL
59341	62901470	Disease	p.Arg269Cys	605427.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC	OMIM	83	cd00204	22547184,NP_067638
59341	294459965	Disease	p.Arg269Cys	605427.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC	OMIM	No Domain	N/A	NULL
59341	294459977	Disease	p.Arg269Cys	605427.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC	OMIM	No Domain	N/A	NULL
59341	22547180	Disease	p.Arg269Cys	605427.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC	OMIM	83	cd00204	NULL
59341	294459971	Disease	p.Pro19Ser	605427.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1	OMIM	No Domain	N/A	NULL
59341	62901470	Disease	p.Pro19Ser	605427.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1	OMIM	No Domain	N/A	22547184,NP_067638
59341	294459965	Disease	p.Pro19Ser	605427.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1	OMIM	No Domain	N/A	NULL
59341	294459977	Disease	p.Pro19Ser	605427.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1	OMIM	No Domain	N/A	NULL
59341	22547180	Disease	p.Pro19Ser	605427.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605427	SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1	OMIM	No Domain	N/A	NULL
127534	12229761	Disease	p.Thr85Pro	605425.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605425	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA	OMIM	85	pfam00029	23397464,NP_694944
127534	12229761	Disease	p.Gly12Asp	605425.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605425	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA	OMIM	12	pfam00029	23397464,NP_694944
127534	12229761	Disease	p.Arg22His	605425.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605425	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA	OMIM	22	pfam00029	23397464,NP_694944
127534	12229761	Disease	p.Phe189Tyr	605425.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605425	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA	OMIM	55	pfam10582	23397464,NP_694944
50846	6166118	Disease	p.Met1Thr	605423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605423	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY	OMIM	No Domain	N/A	19482158,NP_066382
50846	6166118	Disease	p.Leu162Pro	605423.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605423	46,XY GONADAL DYSGENESIS, COMPLETE, DHH-RELATED	OMIM	123	pfam01085	19482158,NP_066382
60529	254763249	Disease	p.Arg218Gln	605420.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605420	PARIETAL FORAMINA 2	OMIM	55	COG5576	55743092,NP_068745
60529	254763249	Disease	p.Arg218Gln	605420.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605420	PARIETAL FORAMINA 2	OMIM	4	pfam00046	55743092,NP_068745
60529	254763249	Disease	p.Arg218Gln	605420.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605420	PARIETAL FORAMINA 2	OMIM	4	cd00086	55743092,NP_068745
60529	254763249	Disease	p.Arg218Gln	605420.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605420	PARIETAL FORAMINA 2	OMIM	4	smart00389	55743092,NP_068745
60529	254763249	Disease	p.Arg272Pro	605420.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605420	PARIETAL FORAMINA 2	OMIM	111	COG5576	55743092,NP_068745
60529	254763249	Disease	p.Arg272Pro	605420.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605420	PARIETAL FORAMINA 2	OMIM	90	cd00086	55743092,NP_068745
8074	13626688	Disease	p.Arg176Gln	605380.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605380	HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	10190674,NP_065689
8074	13626688	Disease	p.Arg179Trp	605380.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605380	HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	10190674,NP_065689
8139	13626745	Disease	p.Glu486Lys	605379.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605379	GIANT AXONAL NEUROPATHY 1	OMIM	No Domain	N/A	11545731,NP_071324
8139	13626745	Disease	p.Ile423Thr	605379.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605379	GIANT AXONAL NEUROPATHY 1	OMIM	2	smart00612	11545731,NP_071324
8139	13626745	Disease	p.Ile423Thr	605379.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605379	GIANT AXONAL NEUROPATHY 1	OMIM	14	pfam01344	11545731,NP_071324
8139	13626745	Disease	p.Arg138His	605379.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605379	GIANT AXONAL NEUROPATHY 1	OMIM	5	pfam07707	11545731,NP_071324
8139	13626745	Disease	p.Arg138His	605379.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605379	GIANT AXONAL NEUROPATHY 1	OMIM	5	smart00875	11545731,NP_071324
8139	13626745	Disease	p.Arg15Ser	605379.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605379	GIANT AXONAL NEUROPATHY 1	OMIM	No Domain	N/A	11545731,NP_071324
8139	13626745	Disease	p.Glu169Lys	605379.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605379	GIANT AXONAL NEUROPATHY 1	OMIM	38	pfam07707	11545731,NP_071324
8139	13626745	Disease	p.Glu169Lys	605379.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605379	GIANT AXONAL NEUROPATHY 1	OMIM	116	smart00875	11545731,NP_071324
8086	291045307	Disease	p.Gln15Lys	605378.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605378	ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME	OMIM	No Domain	N/A	NULL
8086	20137527	Disease	p.Gln15Lys	605378.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605378	ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME	OMIM	No Domain	N/A	12962937,NP_056480
8086	291045307	Disease	p.Ser263Pro	605378.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605378	ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME	OMIM	No Domain	N/A	NULL
8086	20137527	Disease	p.Ser263Pro	605378.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605378	ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME	OMIM	300	cd00200	12962937,NP_056480
8086	20137527	Disease	p.Ser263Pro	605378.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605378	ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME	OMIM	101	smart00320	12962937,NP_056480
8086	20137527	Disease	p.Ser263Pro	605378.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605378	ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME	OMIM	54	pfam00400	12962937,NP_056480
8086	291045307	Disease	p.Leu430Phe	605378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605378	ACHALASIA-ALACRIMA SYNDROME	OMIM	No Domain	N/A	NULL
8086	20137527	Disease	p.Leu430Phe	605378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605378	ACHALASIA-ALACRIMA SYNDROME	OMIM	732	cd00200	12962937,NP_056480
10564	146329988	Disease	p.Glu209Lys	605371.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605371	PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	150417986,NP_006411
2571	15451889	Disease	p.Ser12Cys	605363.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605363	CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
2571	1352213	Disease	p.Ser12Cys	605363.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605363	CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	58331246,NP_000808
51738	201860281	Disease	p.Arg51Gln	605353.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605353	OBESITY, SUSCEPTIBILITY TO||METABOLIC SYNDROME, SUSCEPTIBILITY TO	OMIM	8	pfam04643	NULL
51738	201860285	Disease	p.Arg51Gln	605353.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605353	OBESITY, SUSCEPTIBILITY TO||METABOLIC SYNDROME, SUSCEPTIBILITY TO	OMIM	47	pfam04643	NULL
51738	201860283	Disease	p.Arg51Gln	605353.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605353	OBESITY, SUSCEPTIBILITY TO||METABOLIC SYNDROME, SUSCEPTIBILITY TO	OMIM	9	pfam04643	NULL
51738	201860279	Disease	p.Arg51Gln	605353.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605353	OBESITY, SUSCEPTIBILITY TO||METABOLIC SYNDROME, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
51738	17865471	Disease	p.Arg51Gln	605353.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605353	OBESITY, SUSCEPTIBILITY TO||METABOLIC SYNDROME, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	7706519,NP_057446
51738	201860281	Disease	p.Leu72Met	605353.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605353	OBESITY, AGE AT ONSET OF||METABOLIC SYNDROME, SUSCEPTIBILITY TO	OMIM	29	pfam04643	NULL
51738	201860285	Disease	p.Leu72Met	605353.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605353	OBESITY, AGE AT ONSET OF||METABOLIC SYNDROME, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
51738	201860283	Disease	p.Leu72Met	605353.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605353	OBESITY, AGE AT ONSET OF||METABOLIC SYNDROME, SUSCEPTIBILITY TO	OMIM	30	pfam04643	NULL
51738	201860279	Disease	p.Leu72Met	605353.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605353	OBESITY, AGE AT ONSET OF||METABOLIC SYNDROME, SUSCEPTIBILITY TO	OMIM	18	pfam04643	NULL
51738	17865471	Disease	p.Leu72Met	605353.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605353	OBESITY, AGE AT ONSET OF||METABOLIC SYNDROME, SUSCEPTIBILITY TO	OMIM	17	pfam04643	7706519,NP_057446
51738	201860281	Disease	p.Gln90Leu	605353.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605353	OBESITY, SUSCEPTIBILITY TO	OMIM	47	pfam04643	NULL
51738	201860285	Disease	p.Gln90Leu	605353.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605353	OBESITY, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
51738	201860283	Disease	p.Gln90Leu	605353.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605353	OBESITY, SUSCEPTIBILITY TO	OMIM	48	pfam04643	NULL
51738	201860279	Disease	p.Gln90Leu	605353.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605353	OBESITY, SUSCEPTIBILITY TO	OMIM	36	pfam04643	NULL
51738	17865471	Disease	p.Gln90Leu	605353.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605353	OBESITY, SUSCEPTIBILITY TO	OMIM	35	pfam04643	7706519,NP_057446
93986	17432967	Disease	p.Arg553His	605317.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605317	DEVELOPMENTAL VERBAL DYSPRAXIA	OMIM	77	smart00339	17017963,NP_055306
93986	17432967	Disease	p.Arg553His	605317.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605317	DEVELOPMENTAL VERBAL DYSPRAXIA	OMIM	72	pfam00250	17017963,NP_055306
93986	17432967	Disease	p.Arg553His	605317.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605317	DEVELOPMENTAL VERBAL DYSPRAXIA	OMIM	56	cd00059	17017963,NP_055306
93986	149999352	Disease	p.Arg553His	605317.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605317	DEVELOPMENTAL VERBAL DYSPRAXIA	OMIM	26	smart00339	NULL
93986	149999352	Disease	p.Arg553His	605317.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605317	DEVELOPMENTAL VERBAL DYSPRAXIA	OMIM	47	pfam00250	NULL
93986	149999352	Disease	p.Arg553His	605317.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605317	DEVELOPMENTAL VERBAL DYSPRAXIA	OMIM	26	cd00059	NULL
93986	289666732	Disease	p.Arg553His	605317.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605317	DEVELOPMENTAL VERBAL DYSPRAXIA	OMIM	57	cd00059	NULL
93986	289666732	Disease	p.Arg553His	605317.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605317	DEVELOPMENTAL VERBAL DYSPRAXIA	OMIM	73	pfam00250	NULL
93986	289666732	Disease	p.Arg553His	605317.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605317	DEVELOPMENTAL VERBAL DYSPRAXIA	OMIM	78	smart00339	NULL
93986	289666734	Disease	p.Arg553His	605317.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605317	DEVELOPMENTAL VERBAL DYSPRAXIA	OMIM	No Domain	N/A	NULL
93986	289666774	Disease	p.Arg553His	605317.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605317	DEVELOPMENTAL VERBAL DYSPRAXIA	OMIM	34	smart00339	NULL
93986	289666774	Disease	p.Arg553His	605317.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605317	DEVELOPMENTAL VERBAL DYSPRAXIA	OMIM	34	cd00059	NULL
93986	289666774	Disease	p.Arg553His	605317.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605317	DEVELOPMENTAL VERBAL DYSPRAXIA	OMIM	55	pfam00250	NULL
93986	298566291	Disease	p.Arg553His	605317.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605317	DEVELOPMENTAL VERBAL DYSPRAXIA	OMIM	No Domain	N/A	NULL
4166	61212105	Disease	p.Lys174Arg	605294.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605294	MACULAR CORNEAL DYSTROPHY, TYPE I	OMIM	147	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Asp203Glu	605294.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605294	MACULAR CORNEAL DYSTROPHY, TYPE I	OMIM	189	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Leu200Arg	605294.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605294	MACULAR CORNEAL DYSTROPHY, TYPE I||MACULAR CORNEAL DYSTROPHY, TYPE II	OMIM	186	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Cys102Gly	605294.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605294	MACULAR CORNEAL DYSTROPHY, TYPE I	OMIM	71	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Tyr110Cys	605294.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605294	MACULAR CORNEAL DYSTROPHY, TYPE I	OMIM	79	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Leu276Pro	605294.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605294	MACULAR CORNEAL DYSTROPHY, TYPE I	OMIM	295	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Arg93Ser	605294.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605294	MACULAR CORNEAL DYSTROPHY, TYPE II	OMIM	62	pfam00685	11055976,NP_067628
9968	209572775	Disease	p.Gly300Glu	605290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605290	OPTIC ATROPHY 1	OMIM	16	pfam12145	110347429,NP_005111
9968	209572775	Disease	p.Arg290Gln	605290.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605290	OPTIC ATROPHY 1	OMIM	6	pfam12145	110347429,NP_005111
9968	209572775	Disease	p.Arg445His	605290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605290	OPTIC ATROPHY 1 WITH DEAFNESS||OPTIC ATROPHY, DEAFNESS, OPHTHALMOPLEGIA, AND MYOPATHY	OMIM	191	pfam12145	110347429,NP_005111
9968	209572775	Disease	p.Tyr582Cys	605290.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605290	OPTIC ATROPHY, DEAFNESS, OPHTHALMOPLEGIA, AND MYOPATHY	OMIM	378	pfam12145	110347429,NP_005111
7248	241666462	Disease	p.Lys585Arg	605284.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605284	TUBEROUS SCLEROSIS 1	OMIM	762	pfam04388	NULL
7248	9297077	Disease	p.Lys585Arg	605284.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605284	TUBEROUS SCLEROSIS 1	OMIM	761	pfam04388	4507693,NP_000359
7248	241666464	Disease	p.Lys585Arg	605284.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605284	TUBEROUS SCLEROSIS 1	OMIM	830	pfam04388	NULL
7248	241666462	Disease	p.His732Tyr	605284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605284	FOCAL CORTICAL DYSPLASIA OF TAYLOR, TYPE IIB||TUBEROUS SCLEROSIS 1	OMIM	No Domain	N/A	NULL
7248	9297077	Disease	p.His732Tyr	605284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605284	FOCAL CORTICAL DYSPLASIA OF TAYLOR, TYPE IIB||TUBEROUS SCLEROSIS 1	OMIM	No Domain	N/A	4507693,NP_000359
7248	241666464	Disease	p.His732Tyr	605284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605284	FOCAL CORTICAL DYSPLASIA OF TAYLOR, TYPE IIB||TUBEROUS SCLEROSIS 1	OMIM	No Domain	N/A	NULL
7248	241666462	Disease	p.Met224Arg	605284.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605284	TUBEROUS SCLEROSIS 1	OMIM	297	pfam04388	NULL
7248	9297077	Disease	p.Met224Arg	605284.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605284	TUBEROUS SCLEROSIS 1	OMIM	297	pfam04388	4507693,NP_000359
7248	241666464	Disease	p.Met224Arg	605284.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605284	TUBEROUS SCLEROSIS 1	OMIM	366	pfam04388	NULL
7248	241666462	Disease	p.Leu180Pro	605284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605284	TUBEROUS SCLEROSIS 1	OMIM	215	pfam04388	NULL
7248	9297077	Disease	p.Leu180Pro	605284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605284	TUBEROUS SCLEROSIS 1	OMIM	215	pfam04388	4507693,NP_000359
7248	241666464	Disease	p.Leu180Pro	605284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605284	TUBEROUS SCLEROSIS 1	OMIM	304	pfam04388	NULL
6448	1711493	Disease	p.Arg245His	605270.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	400	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Arg245His	605270.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	450	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Arg245His	605270.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	372	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Arg74Cys	605270.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	66	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Arg74Cys	605270.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	92	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Arg74Cys	605270.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	97	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Ser66Trp	605270.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	57	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Ser66Trp	605270.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	84	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Ser66Trp	605270.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	89	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Arg150Gln	605270.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	295	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Arg150Gln	605270.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	296	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Arg150Gln	605270.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	214	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Glu447Lys	605270.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	808	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Glu447Lys	605270.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	693	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Glu369Lys	605270.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	683	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Glu369Lys	605270.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	710	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Glu369Lys	605270.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	573_G	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Arg433Gln	605270.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	794	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Arg433Gln	605270.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	679	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Pro128Leu	605270.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	198	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Pro128Leu	605270.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	156	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Pro128Leu	605270.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	178	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Arg206Pro	605270.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	357_G	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Arg206Pro	605270.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	372	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Arg206Pro	605270.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605270	SANFILIPPO SYNDROME A	OMIM	282	COG3119	4506919,NP_000190
57379	23813666	Disease	p.Arg24Trp	605257.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605257	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2	OMIM	25	pfam08210	10190700,NP_065712
57379	23813666	Disease	p.Arg24Trp	605257.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605257	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2	OMIM	31	cd01283	10190700,NP_065712
57379	23813666	Disease	p.Trp80Arg	605257.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605257	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2	OMIM	112	pfam08210	10190700,NP_065712
57379	23813666	Disease	p.Trp80Arg	605257.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605257	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2	OMIM	118	cd01283	10190700,NP_065712
57379	23813666	Disease	p.Leu106Pro	605257.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605257	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2	OMIM	142	pfam08210	10190700,NP_065712
57379	23813666	Disease	p.Leu106Pro	605257.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605257	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2	OMIM	161	cd01283	10190700,NP_065712
57379	23813666	Disease	p.Met139Val	605257.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605257	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2	OMIM	25	pfam05240	10190700,NP_065712
57379	23813666	Disease	p.Met139Val	605257.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605257	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2	OMIM	197	cd01283	10190700,NP_065712
57379	23813666	Disease	p.Phe151Ser	605257.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605257	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2	OMIM	37	pfam05240	10190700,NP_065712
57192	50401163	Disease	p.Asp362Tyr	605248.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605248	MUCOLIPIDOSIS IV	OMIM	No Domain	N/A	10092597,NP_065394
57192	50401163	Disease	p.Arg403Cys	605248.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605248	MUCOLIPIDOSIS IV	OMIM	No Domain	N/A	10092597,NP_065394
10083	160113087	Disease	p.Arg608Pro	605242.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605242	DEAFNESS, AUTOSOMAL RECESSIVE 18	OMIM	No Domain	N/A	71480164,NP_005700
10083	41281808	Disease	p.Arg608Pro	605242.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605242	DEAFNESS, AUTOSOMAL RECESSIVE 18	OMIM	No Domain	N/A	NULL
10083	160113087	Disease	p.Val130Ile	605242.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605242	USHER SYNDROME, TYPE IC	OMIM	187	smart00228	71480164,NP_005700
10083	160113087	Disease	p.Val130Ile	605242.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605242	USHER SYNDROME, TYPE IC	OMIM	150	cd00992	71480164,NP_005700
10083	160113087	Disease	p.Val130Ile	605242.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605242	USHER SYNDROME, TYPE IC	OMIM	59	cd00988	71480164,NP_005700
10083	160113087	Disease	p.Val130Ile	605242.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605242	USHER SYNDROME, TYPE IC	OMIM	62	pfam00595	71480164,NP_005700
10083	160113087	Disease	p.Val130Ile	605242.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605242	USHER SYNDROME, TYPE IC	OMIM	86	cd00136	71480164,NP_005700
10083	41281808	Disease	p.Val130Ile	605242.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605242	USHER SYNDROME, TYPE IC	OMIM	187	smart00228	NULL
10083	41281808	Disease	p.Val130Ile	605242.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605242	USHER SYNDROME, TYPE IC	OMIM	150	cd00992	NULL
10083	41281808	Disease	p.Val130Ile	605242.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605242	USHER SYNDROME, TYPE IC	OMIM	59	cd00988	NULL
10083	41281808	Disease	p.Val130Ile	605242.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605242	USHER SYNDROME, TYPE IC	OMIM	62	pfam00595	NULL
10083	41281808	Disease	p.Val130Ile	605242.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605242	USHER SYNDROME, TYPE IC	OMIM	86	cd00136	NULL
50617	308153516	Disease	p.Gly820Arg	605239.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	OMIM	946	COG1269	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Gly820Arg	605239.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	OMIM	942	pfam01496	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Gly820Arg	605239.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	OMIM	946	COG1269	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Gly820Arg	605239.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	OMIM	942	pfam01496	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Gly820Arg	605239.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	OMIM	946	COG1269	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Gly820Arg	605239.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	OMIM	942	pfam01496	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Met580Thr	605239.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	OMIM	686	COG1269	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Met580Thr	605239.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	OMIM	647	pfam01496	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Met580Thr	605239.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	OMIM	686	COG1269	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Met580Thr	605239.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	OMIM	647	pfam01496	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Met580Thr	605239.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	OMIM	686	COG1269	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Met580Thr	605239.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	OMIM	647	pfam01496	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Pro524Leu	605239.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	OMIM	618	COG1269	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Pro524Leu	605239.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	OMIM	587	pfam01496	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Pro524Leu	605239.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	OMIM	618	COG1269	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Pro524Leu	605239.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	OMIM	587	pfam01496	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Pro524Leu	605239.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	OMIM	618	COG1269	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Pro524Leu	605239.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	OMIM	587	pfam01496	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Arg807Gln	605239.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS	OMIM	931	COG1269	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Arg807Gln	605239.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS	OMIM	928	pfam01496	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Arg807Gln	605239.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS	OMIM	931	COG1269	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Arg807Gln	605239.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS	OMIM	928	pfam01496	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Arg807Gln	605239.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS	OMIM	931	COG1269	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Arg807Gln	605239.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605239	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS	OMIM	928	pfam01496	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
3176	66932963	Disease	p.Thr105Ile	605238.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605238	ASTHMA, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
3176	1708272	Disease	p.Thr105Ile	605238.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605238	ASTHMA, SUSCEPTIBILITY TO	OMIM	139	cd02440	5901970,NP_008826
3176	66932965	Disease	p.Thr105Ile	605238.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605238	ASTHMA, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
10021	38605641	Disease	p.Ser672Arg	605206.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605206	SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT	OMIM	108	pfam00027	4885407,NP_005468
10021	38605641	Disease	p.Ser672Arg	605206.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605206	SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT	OMIM	172	smart00100	4885407,NP_005468
10021	38605641	Disease	p.Ser672Arg	605206.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605206	SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT	OMIM	135	cd00038	4885407,NP_005468
10021	38605641	Disease	p.Ser672Arg	605206.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605206	SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT	OMIM	248	COG0664	4885407,NP_005468
10021	38605641	Disease	p.Asp553Asn	605206.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605206	SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	4885407,NP_005468
10021	38605641	Disease	p.Gly480Arg	605206.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605206	SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT	OMIM	343	pfam00520	4885407,NP_005468
1861	13878817	Disease	p.Asp216His	605204.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605204	DYSTONIA 1, MODIFIER OF	OMIM	No Domain	N/A	4557541,NP_000104
145873	290457624	Disease	p.Leu125Val	605195.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605195	SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE	OMIM	116	smart00353	90403598,NP_001035047
145873	290457624	Disease	p.Leu125Val	605195.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605195	SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE	OMIM	82	pfam00010	90403598,NP_001035047
145873	290457624	Disease	p.Leu125Val	605195.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605195	SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE	OMIM	78	cd00083	90403598,NP_001035047
55997	300680886	Disease	p.Arg112Cys	605194.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605194	HETEROTAXY, VISCERAL, 2, AUTOSOMAL	OMIM	No Domain	N/A	14211837,NP_115934
56172	17366849	Disease	p.Gly389Arg	605145.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605145	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	16905507,NP_473368
56172	17366849	Disease	p.Met48Thr	605145.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605145	CHONDROCALCINOSIS 2	OMIM	48	pfam07260	16905507,NP_473368
56172	17366849	Disease	p.Pro5Leu	605145.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605145	CHONDROCALCINOSIS 2	OMIM	5	pfam07260	16905507,NP_473368
56172	17366849	Disease	p.Pro5Thr	605145.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605145	CHONDROCALCINOSIS 2	OMIM	5	pfam07260	16905507,NP_473368
56172	17366849	Disease	p.Cys339Arg	605145.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605145	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	OMIM	339	pfam07260	16905507,NP_473368
56172	17366849	Disease	p.Leu391Pro	605145.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605145	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	16905507,NP_473368
56172	17366849	Disease	p.Leu334Arg	605145.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605145	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	OMIM	334	pfam07260	16905507,NP_473368
10653	260656008	Disease	p.Tyr163Cys	605124.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605124	DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC	OMIM	No Domain	N/A	NULL
10653	13124550	Disease	p.Tyr163Cys	605124.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605124	DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC	OMIM	78	smart00131	10863909,NP_066925
10653	13124550	Disease	p.Tyr163Cys	605124.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605124	DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC	OMIM	43	cd00109	10863909,NP_066925
10653	13124550	Disease	p.Tyr163Cys	605124.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605124	DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC	OMIM	50	pfam00014	10863909,NP_066925
10653	260656008	Disease	p.Met1Leu	605124.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605124	DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC	OMIM	No Domain	N/A	NULL
10653	13124550	Disease	p.Met1Leu	605124.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605124	DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC	OMIM	No Domain	N/A	10863909,NP_066925
10747	21264361	Disease	p.Asp105Gly	605102.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605102	MASP2 DEFICIENCY	OMIM	238	cd00041	NULL
10747	21264361	Disease	p.Asp105Gly	605102.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605102	MASP2 DEFICIENCY	OMIM	104	pfam00431	NULL
10747	21264361	Disease	p.Asp105Gly	605102.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605102	MASP2 DEFICIENCY	OMIM	200	smart00042	NULL
10747	21264363	Disease	p.Asp105Gly	605102.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605102	MASP2 DEFICIENCY	OMIM	238	cd00041	NULL
10747	21264363	Disease	p.Asp105Gly	605102.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605102	MASP2 DEFICIENCY	OMIM	104	pfam00431	NULL
10747	21264363	Disease	p.Asp105Gly	605102.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605102	MASP2 DEFICIENCY	OMIM	200	smart00042	NULL
23118	74753070	Disease	p.Pro208Ser	605101.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605101	CONGENITAL HEART DISEASE, NONSYNDROMIC, 2	OMIM	No Domain	N/A	14149669,NP_055908
23118	74753070	Disease	p.Gln230Lys	605101.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605101	CONGENITAL HEART DISEASE, NONSYNDROMIC, 2	OMIM	No Domain	N/A	14149669,NP_055908
54209	50401689	Disease	p.Lys186Asn	605086.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605086	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY	OMIM	No Domain	N/A	9507203,NP_061838
54209	50401689	Disease	p.Asp134Gly	605086.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605086	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY	OMIM	No Domain	N/A	9507203,NP_061838
54209	50401689	Disease	p.Val126Gly	605086.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605086	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY	OMIM	143	pfam07686	9507203,NP_061838
54209	50401689	Disease	p.Val126Gly	605086.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605086	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY	OMIM	120	cd05716	9507203,NP_061838
2487	14194748	Disease	p.Arg324Gly	605083.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605083	OSTEOARTHRITIS SUSCEPTIBILITY 1	OMIM	No Domain	N/A	38455388,NP_001454
2487	14194748	Disease	p.Arg200Trp	605083.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605083	OSTEOARTHRITIS SUSCEPTIBILITY 1	OMIM	13	cd03579	38455388,NP_001454
2487	14194748	Disease	p.Arg200Trp	605083.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605083	OSTEOARTHRITIS SUSCEPTIBILITY 1	OMIM	14	cd03581	38455388,NP_001454
2487	14194748	Disease	p.Arg200Trp	605083.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605083	OSTEOARTHRITIS SUSCEPTIBILITY 1	OMIM	13	cd03523	38455388,NP_001454
2487	14194748	Disease	p.Arg200Trp	605083.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605083	OSTEOARTHRITIS SUSCEPTIBILITY 1	OMIM	18	smart00643	38455388,NP_001454
2487	14194748	Disease	p.Arg200Trp	605083.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605083	OSTEOARTHRITIS SUSCEPTIBILITY 1	OMIM	19	pfam01759	38455388,NP_001454
2487	14194748	Disease	p.Arg200Trp	605083.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605083	OSTEOARTHRITIS SUSCEPTIBILITY 1	OMIM	14	cd03578	38455388,NP_001454
54714	311033366	Disease	p.Ser435Phe	605080.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605080	ACHROMATOPSIA 3	OMIM	401	pfam00520	116642889,NP_061971
54714	311033366	Disease	p.Tyr469Asp	605080.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605080	STARGARDT DISEASE 1	OMIM	No Domain	N/A	116642889,NP_061971
23435	20140568	Disease	p.Met337Val	605078.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605078	AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS	OMIM	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Gln331Lys	605078.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605078	AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS	OMIM	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Gly294Ala	605078.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605078	AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS	OMIM	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Gly290Ala	605078.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605078	AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS	OMIM	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Gly298Ser	605078.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605078	AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS	OMIM	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Asp169Gly	605078.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605078	AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS	OMIM	74	pfam00076	6678271,NP_031401
23435	20140568	Disease	p.Asp169Gly	605078.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605078	AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS	OMIM	171	smart00360	6678271,NP_031401
23435	20140568	Disease	p.Asp169Gly	605078.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605078	AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS	OMIM	167	cd00590	6678271,NP_031401
23435	20140568	Disease	p.Asp169Gly	605078.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605078	AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS	OMIM	164	smart00362	6678271,NP_031401
23435	20140568	Disease	p.Gly348Cys	605078.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605078	AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS	OMIM	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Gln343Arg	605078.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605078	AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS	OMIM	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Ala315Thr	605078.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605078	AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS	OMIM	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Gly295Ser	605078.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605078	AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS	OMIM	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Lys263Glu	605078.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605078	FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED	OMIM	No Domain	N/A	6678271,NP_031401
4591	55976224	Disease	p.Cys109Ser	605073.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605073	MULIBREY NANISM	OMIM	26	smart00336	15147333,NP_056109|52487176,NP_001005207
4591	55976224	Disease	p.Cys109Ser	605073.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605073	MULIBREY NANISM	OMIM	31	pfam00643	15147333,NP_056109|52487176,NP_001005207
4591	55976224	Disease	p.Cys109Ser	605073.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605073	MULIBREY NANISM	OMIM	19	cd00021	15147333,NP_056109|52487176,NP_001005207
4591	55976224	Disease	p.Cys109Ser	605073.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605073	MULIBREY NANISM	OMIM	26	smart00336	15147333,NP_056109|52487176,NP_001005207
4591	55976224	Disease	p.Cys109Ser	605073.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605073	MULIBREY NANISM	OMIM	31	pfam00643	15147333,NP_056109|52487176,NP_001005207
4591	55976224	Disease	p.Cys109Ser	605073.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605073	MULIBREY NANISM	OMIM	19	cd00021	15147333,NP_056109|52487176,NP_001005207
30813	40806216	Disease	p.Arg166Trp	605020.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605020	KERATOCONUS 1	OMIM	2	smart00389	NULL
30813	40806216	Disease	p.Arg166Trp	605020.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605020	KERATOCONUS 1	OMIM	2	cd00086	NULL
30813	40806216	Disease	p.Arg166Trp	605020.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605020	KERATOCONUS 1	OMIM	2	pfam00046	NULL
30813	25009572	Disease	p.Arg166Trp	605020.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605020	KERATOCONUS 1	OMIM	2	pfam00046	11056038,NP_055403
30813	25009572	Disease	p.Arg166Trp	605020.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605020	KERATOCONUS 1	OMIM	2	smart00389	11056038,NP_055403
30813	25009572	Disease	p.Arg166Trp	605020.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605020	KERATOCONUS 1	OMIM	2	cd00086	11056038,NP_055403
30813	25009572	Disease	p.Arg166Trp	605020.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605020	KERATOCONUS 1	OMIM	53	COG5576	11056038,NP_055403
30813	40806216	Disease	p.Gly160Asp	605020.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605020	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1	OMIM	No Domain	N/A	NULL
30813	25009572	Disease	p.Gly160Asp	605020.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605020	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1	OMIM	46	COG5576	11056038,NP_055403
30813	40806216	Disease	p.Leu159Met	605020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605020	KERATOCONUS 1	OMIM	No Domain	N/A	NULL
30813	25009572	Disease	p.Leu159Met	605020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605020	KERATOCONUS 1	OMIM	45	COG5576	11056038,NP_055403
30813	40806216	Disease	p.Ala256Ser	605020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605020	CRANIOFACIAL ANOMALIES, EMPTY SELLA TURCICA, CORNEAL ENDOTHELIAL CHANGES, AND ABNORMAL RETINAL AND AUDITORY BIPOLAR CELLS	OMIM	No Domain	N/A	NULL
30813	25009572	Disease	p.Ala256Ser	605020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605020	CRANIOFACIAL ANOMALIES, EMPTY SELLA TURCICA, CORNEAL ENDOTHELIAL CHANGES, AND ABNORMAL RETINAL AND AUDITORY BIPOLAR CELLS	OMIM	154	COG5576	11056038,NP_055403
30813	40806216	Disease	p.Leu17Pro	605020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605020	KERATOCONUS 1	OMIM	No Domain	N/A	NULL
30813	25009572	Disease	p.Leu17Pro	605020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605020	KERATOCONUS 1	OMIM	No Domain	N/A	11056038,NP_055403
1540	109637774	Disease	p.Glu747Gly	605018.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605018	TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1||BROOKE-SPIEGLER SYNDROME	OMIM	358	cd02670	NULL
1540	109637774	Disease	p.Glu747Gly	605018.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605018	TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1||BROOKE-SPIEGLER SYNDROME	OMIM	1423	cd02257	NULL
1540	109637776	Disease	p.Glu747Gly	605018.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605018	TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1||BROOKE-SPIEGLER SYNDROME	OMIM	358	cd02670	NULL
1540	109637776	Disease	p.Glu747Gly	605018.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605018	TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1||BROOKE-SPIEGLER SYNDROME	OMIM	1423	cd02257	NULL
1540	51316104	Disease	p.Glu747Gly	605018.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605018	TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1||BROOKE-SPIEGLER SYNDROME	OMIM	355	cd02670	14165258,NP_056062
1540	51316104	Disease	p.Glu747Gly	605018.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605018	TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1||BROOKE-SPIEGLER SYNDROME	OMIM	1420	cd02257	14165258,NP_056062
11005	212276440	Disease	p.Glu420Lys	605010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605010	ATOPY, SUSCEPTIBILITY TO||DERMATITIS, ATOPIC, 6, SUSCEPTIBILITY TO||ASTHMA, SUSCEPTIBILITY TO	OMIM	83	smart00280	74027261,NP_006837
11005	212276440	Disease	p.Glu420Lys	605010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605010	ATOPY, SUSCEPTIBILITY TO||DERMATITIS, ATOPIC, 6, SUSCEPTIBILITY TO||ASTHMA, SUSCEPTIBILITY TO	OMIM	68	pfam07648	74027261,NP_006837
11005	189163504	Disease	p.Glu420Lys	605010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605010	ATOPY, SUSCEPTIBILITY TO||DERMATITIS, ATOPIC, 6, SUSCEPTIBILITY TO||ASTHMA, SUSCEPTIBILITY TO	OMIM	83	smart00280	NULL
11005	189163504	Disease	p.Glu420Lys	605010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605010	ATOPY, SUSCEPTIBILITY TO||DERMATITIS, ATOPIC, 6, SUSCEPTIBILITY TO||ASTHMA, SUSCEPTIBILITY TO	OMIM	68	pfam07648	NULL
11005	189163501	Disease	p.Glu420Lys	605010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605010	ATOPY, SUSCEPTIBILITY TO||DERMATITIS, ATOPIC, 6, SUSCEPTIBILITY TO||ASTHMA, SUSCEPTIBILITY TO	OMIM	83	smart00280	NULL
11005	189163501	Disease	p.Glu420Lys	605010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605010	ATOPY, SUSCEPTIBILITY TO||DERMATITIS, ATOPIC, 6, SUSCEPTIBILITY TO||ASTHMA, SUSCEPTIBILITY TO	OMIM	68	pfam07648	NULL
9368	41688557	Disease	p.Leu110Val	604990.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604990	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2	OMIM	No Domain	N/A	4759140,NP_004243
9368	41688557	Disease	p.Arg153Gln	604990.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604990	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2	OMIM	2	cd00992	4759140,NP_004243
9368	41688557	Disease	p.Arg153Gln	604990.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604990	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2	OMIM	3	smart00228	4759140,NP_004243
9368	41688557	Disease	p.Glu225Lys	604990.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604990	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2	OMIM	201	cd00992	4759140,NP_004243
9368	41688557	Disease	p.Glu225Lys	604990.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604990	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2	OMIM	100	cd00988	4759140,NP_004243
9368	41688557	Disease	p.Glu225Lys	604990.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604990	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2	OMIM	105	pfam00595	4759140,NP_004243
9368	41688557	Disease	p.Glu225Lys	604990.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604990	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2	OMIM	173	cd00136	4759140,NP_004243
9368	41688557	Disease	p.Glu225Lys	604990.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604990	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2	OMIM	279	smart00228	4759140,NP_004243
6712	5902122	Disease	p.Leu253Pro	604985.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604985	SPINOCEREBELLAR ATAXIA 5	OMIM	75	pfam11971	NULL
6712	5902122	Disease	p.Leu253Pro	604985.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604985	SPINOCEREBELLAR ATAXIA 5	OMIM	202	smart00033	NULL
6712	5902122	Disease	p.Leu253Pro	604985.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604985	SPINOCEREBELLAR ATAXIA 5	OMIM	205	pfam00307	NULL
6712	5902122	Disease	p.Leu253Pro	604985.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604985	SPINOCEREBELLAR ATAXIA 5	OMIM	108	cd00014	NULL
6712	5902122	Disease	p.Leu253Pro	604985.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604985	SPINOCEREBELLAR ATAXIA 5	OMIM	231	COG5069	NULL
11232	17367139	Disease	p.Gly451Glu	604983.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604983	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 4	OMIM	140	cd00858	70887790,NP_009146
11232	17367139	Disease	p.Gly451Glu	604983.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604983	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 4	OMIM	116	cd02426	70887790,NP_009146
11232	17367139	Disease	p.Gly451Glu	604983.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604983	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 4	OMIM	101	pfam03129	70887790,NP_009146
11232	17367139	Disease	p.Gly451Glu	604983.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604983	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 4	OMIM	662	COG0423	70887790,NP_009146
11232	17367139	Disease	p.Gly451Glu	604983.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604983	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 4	OMIM	84	cd00738	70887790,NP_009146
53632	85681287	Disease	p.Arg225Trp	604976.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604976	GLYCOGEN CONTENT IN SKELETAL MUSCLE, INCREASED	OMIM	29	smart00116	47132577,NP_059127
53632	85681287	Disease	p.Arg225Trp	604976.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604976	GLYCOGEN CONTENT IN SKELETAL MUSCLE, INCREASED	OMIM	85	COG0517	47132577,NP_059127
53632	85681287	Disease	p.Arg225Trp	604976.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604976	GLYCOGEN CONTENT IN SKELETAL MUSCLE, INCREASED	OMIM	27	cd04618	47132577,NP_059127
53632	85681287	Disease	p.Arg225Trp	604976.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604976	GLYCOGEN CONTENT IN SKELETAL MUSCLE, INCREASED	OMIM	38	cd02205	47132577,NP_059127
23495	21264086	Disease	p.Cys104Arg	604907.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604907	IMMUNODEFICIENCY, COMMON VARIABLE, 2||IMMUNOGLOBULIN A DEFICIENCY 2	OMIM	36	pfam09305	6912694,NP_036584
23495	21264086	Disease	p.Ala181Glu	604907.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604907	IMMUNODEFICIENCY, COMMON VARIABLE, 2||IMMUNOGLOBULIN A DEFICIENCY 2	OMIM	No Domain	N/A	6912694,NP_036584
23495	21264086	Disease	p.Arg202His	604907.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604907	IMMUNODEFICIENCY, COMMON VARIABLE, 2	OMIM	No Domain	N/A	6912694,NP_036584
8195	11133565	Disease	p.His84Tyr	604896.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME	OMIM	95	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.His84Tyr	604896.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME	OMIM	84	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.His84Tyr	604896.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME	OMIM	74	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.His84Tyr	604896.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME	OMIM	74	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.His84Tyr	604896.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME	OMIM	84	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.His84Tyr	604896.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME	OMIM	67_G	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.His84Tyr	604896.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME	OMIM	95	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.His84Tyr	604896.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME	OMIM	84	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.His84Tyr	604896.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME	OMIM	74	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.His84Tyr	604896.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME	OMIM	74	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.His84Tyr	604896.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME	OMIM	84	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.His84Tyr	604896.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME	OMIM	67_G	cd03338	9055272,NP_061336|25914754,NP_740754
79742	193804856	Disease	p.His84Tyr	604896.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MOVED TO 604896.0001	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.His84Tyr	604896.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MOVED TO 604896.0001	OMIM	No Domain	N/A	193804854,NP_789789
8195	11133565	Disease	p.Tyr37Cys	604896.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME||BARDET-BIEDL SYNDROME 6	OMIM	34	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Tyr37Cys	604896.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME||BARDET-BIEDL SYNDROME 6	OMIM	35	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Tyr37Cys	604896.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME||BARDET-BIEDL SYNDROME 6	OMIM	15	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Tyr37Cys	604896.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME||BARDET-BIEDL SYNDROME 6	OMIM	28	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Tyr37Cys	604896.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME||BARDET-BIEDL SYNDROME 6	OMIM	28	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Tyr37Cys	604896.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME||BARDET-BIEDL SYNDROME 6	OMIM	28	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Tyr37Cys	604896.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME||BARDET-BIEDL SYNDROME 6	OMIM	34	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Tyr37Cys	604896.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME||BARDET-BIEDL SYNDROME 6	OMIM	35	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Tyr37Cys	604896.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME||BARDET-BIEDL SYNDROME 6	OMIM	15	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Tyr37Cys	604896.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME||BARDET-BIEDL SYNDROME 6	OMIM	28	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Tyr37Cys	604896.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME||BARDET-BIEDL SYNDROME 6	OMIM	28	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Tyr37Cys	604896.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	MCKUSICK-KAUFMAN SYNDROME||BARDET-BIEDL SYNDROME 6	OMIM	28	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly52Asp	604896.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	49	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly52Asp	604896.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	50	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly52Asp	604896.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	37	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly52Asp	604896.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	43	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly52Asp	604896.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	49	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly52Asp	604896.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	43	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly52Asp	604896.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	49	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly52Asp	604896.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	50	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly52Asp	604896.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	37	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly52Asp	604896.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	43	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly52Asp	604896.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	49	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly52Asp	604896.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	43	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	604896.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	191	cd03333	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	604896.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	372	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	604896.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	281	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	604896.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	357	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	604896.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	269	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	604896.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	350	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	604896.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	288	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	604896.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	191	cd03333	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	604896.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	372	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	604896.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	281	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	604896.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	357	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	604896.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	269	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	604896.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	350	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	604896.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	288	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr57Ala	604896.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	54	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr57Ala	604896.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	59	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr57Ala	604896.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	42	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr57Ala	604896.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	47	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr57Ala	604896.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	53	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr57Ala	604896.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	52	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr57Ala	604896.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	54	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr57Ala	604896.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	59	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr57Ala	604896.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	42	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr57Ala	604896.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	47	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr57Ala	604896.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	53	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr57Ala	604896.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	52	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Cys499Ser	604896.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	697	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Cys499Ser	604896.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	482	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Cys499Ser	604896.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	763	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Cys499Ser	604896.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	546	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Cys499Ser	604896.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	700	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Cys499Ser	604896.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	697	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Cys499Ser	604896.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	482	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Cys499Ser	604896.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	763	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Cys499Ser	604896.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	546	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Cys499Ser	604896.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 6	OMIM	700	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr325Pro	604896.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	257	cd03333	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr325Pro	604896.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	449	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr325Pro	604896.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	326	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr325Pro	604896.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	466	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr325Pro	604896.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	329	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr325Pro	604896.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	416	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr325Pro	604896.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	341	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr325Pro	604896.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	257	cd03333	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr325Pro	604896.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	449	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr325Pro	604896.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	326	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr325Pro	604896.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	466	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr325Pro	604896.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	329	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr325Pro	604896.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	416	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr325Pro	604896.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604896	BARDET-BIEDL SYNDROME 1, MODIFIER OF	OMIM	341	cd03338	9055272,NP_061336|25914754,NP_740754
50674	229462908	Disease	p.Arg107Ser	604882.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604882	DIARRHEA 4, MALABSORPTIVE, CONGENITAL	OMIM	25	pfam00010	68989258,NP_066279
50674	229462908	Disease	p.Arg107Ser	604882.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604882	DIARRHEA 4, MALABSORPTIVE, CONGENITAL	OMIM	27	cd00083	68989258,NP_066279
50674	229462908	Disease	p.Arg107Ser	604882.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604882	DIARRHEA 4, MALABSORPTIVE, CONGENITAL	OMIM	23	smart00353	68989258,NP_066279
50674	229462908	Disease	p.Arg93Leu	604882.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604882	DIARRHEA 4, MALABSORPTIVE, CONGENITAL	OMIM	10	pfam00010	68989258,NP_066279
50674	229462908	Disease	p.Arg93Leu	604882.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604882	DIARRHEA 4, MALABSORPTIVE, CONGENITAL	OMIM	13	cd00083	68989258,NP_066279
50674	229462908	Disease	p.Arg93Leu	604882.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604882	DIARRHEA 4, MALABSORPTIVE, CONGENITAL	OMIM	5	smart00353	68989258,NP_066279
9990	27151690	Disease	p.Arg207Cys	604878.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604878	AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY	OMIM	20	pfam00324	110224449,NP_598408
9990	27151690	Disease	p.Arg207Cys	604878.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604878	AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY	OMIM	45	COG0531	110224449,NP_598408
9990	110224454	Disease	p.Arg207Cys	604878.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604878	AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY	OMIM	87	pfam00324	NULL
9990	110224454	Disease	p.Arg207Cys	604878.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604878	AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY	OMIM	190	COG0531	NULL
9990	4826780	Disease	p.Arg207Cys	604878.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604878	AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY	OMIM	78	pfam00324	NULL
9990	4826780	Disease	p.Arg207Cys	604878.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604878	AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY	OMIM	114	COG0531	NULL
9990	110224458	Disease	p.Arg207Cys	604878.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604878	AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY	OMIM	37	pfam00324	NULL
9990	110224458	Disease	p.Arg207Cys	604878.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604878	AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY	OMIM	73	COG0531	NULL
9990	110224456	Disease	p.Arg207Cys	604878.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604878	AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY	OMIM	65	COG0531	NULL
9990	110224456	Disease	p.Arg207Cys	604878.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604878	AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY	OMIM	29	pfam00324	NULL
9990	110224452	Disease	p.Arg207Cys	604878.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604878	AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY	OMIM	87	pfam00324	NULL
9990	110224452	Disease	p.Arg207Cys	604878.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604878	AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY	OMIM	190	COG0531	NULL
50833	29839657	Disease	p.Lys172Asn	604867.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604867	BETA-GLYCOPYRANOSIDE TASTING||ALCOHOL DEPENDENCE, SUSCEPTIBILITY TO	OMIM	182	pfam05296	8394395,NP_058641
9227	46576867	Disease	p.Ser175Arg	604863.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604863	RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED	OMIM	97	pfam04970	46249410,NP_004735
50489	305410858	Disease	p.Trp264Arg	604862.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604862	BIRBECK GRANULE DEFICIENCY	OMIM	104	cd03603	NULL
50489	305410858	Disease	p.Trp264Arg	604862.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604862	BIRBECK GRANULE DEFICIENCY	OMIM	73	cd03602	NULL
50489	305410858	Disease	p.Trp264Arg	604862.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604862	BIRBECK GRANULE DEFICIENCY	OMIM	156	cd00037	NULL
50489	305410858	Disease	p.Trp264Arg	604862.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604862	BIRBECK GRANULE DEFICIENCY	OMIM	64	cd03592	NULL
50489	305410858	Disease	p.Trp264Arg	604862.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604862	BIRBECK GRANULE DEFICIENCY	OMIM	80	cd03597	NULL
50489	305410858	Disease	p.Trp264Arg	604862.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604862	BIRBECK GRANULE DEFICIENCY	OMIM	89	cd03594	NULL
50489	305410858	Disease	p.Trp264Arg	604862.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604862	BIRBECK GRANULE DEFICIENCY	OMIM	66	pfam00059	NULL
50489	305410858	Disease	p.Trp264Arg	604862.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604862	BIRBECK GRANULE DEFICIENCY	OMIM	72	cd03598	NULL
50489	305410858	Disease	p.Trp264Arg	604862.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604862	BIRBECK GRANULE DEFICIENCY	OMIM	66	cd03591	NULL
50489	305410858	Disease	p.Trp264Arg	604862.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604862	BIRBECK GRANULE DEFICIENCY	OMIM	109	cd03589	NULL
50489	305410858	Disease	p.Trp264Arg	604862.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604862	BIRBECK GRANULE DEFICIENCY	OMIM	225	smart00034	NULL
50489	305410858	Disease	p.Trp264Arg	604862.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604862	BIRBECK GRANULE DEFICIENCY	OMIM	78	cd03593	NULL
50489	305410858	Disease	p.Trp264Arg	604862.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604862	BIRBECK GRANULE DEFICIENCY	OMIM	85	cd03590	NULL
50489	305410858	Disease	p.Trp264Arg	604862.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604862	BIRBECK GRANULE DEFICIENCY	OMIM	69	cd03588	NULL
2121	12229783	Disease	p.Arg443Gln	604831.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604831	ELLIS-VAN CREVELD SYNDROME	OMIM	No Domain	N/A	24497531,NP_714928
2121	12229783	Disease	p.Ser307Pro	604831.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604831	WEYERS ACRODENTAL DYSOSTOSIS||ELLIS-VAN CREVELD SYNDROME	OMIM	No Domain	N/A	24497531,NP_714928
51099	73921640	Disease	p.Gln130Pro	604780.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604780	CHANARIN-DORFMAN SYNDROME	OMIM	121	COG2267	31542303,NP_057090
51099	73921640	Disease	p.Gln130Pro	604780.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604780	CHANARIN-DORFMAN SYNDROME	OMIM	201	COG0596	31542303,NP_057090
51099	73921640	Disease	p.Gln130Pro	604780.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604780	CHANARIN-DORFMAN SYNDROME	OMIM	73	pfam00561	31542303,NP_057090
51099	73921640	Disease	p.Glu7Lys	604780.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604780	CHANARIN-DORFMAN SYNDROME	OMIM	No Domain	N/A	31542303,NP_057090
51099	73921640	Disease	p.Glu260Lys	604780.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604780	CHANARIN-DORFMAN SYNDROME	OMIM	287	COG2267	31542303,NP_057090
51099	73921640	Disease	p.Glu260Lys	604780.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604780	CHANARIN-DORFMAN SYNDROME	OMIM	470	COG0596	31542303,NP_057090
51099	73921640	Disease	p.Glu260Lys	604780.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604780	CHANARIN-DORFMAN SYNDROME	OMIM	349	pfam00561	31542303,NP_057090
27034	26006699	Disease	p.Met103Thr	604773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	69	cd01153	7656849,NP_055199
27034	26006699	Disease	p.Met103Thr	604773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	77	cd01151	7656849,NP_055199
27034	26006699	Disease	p.Met103Thr	604773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	108	cd01154	7656849,NP_055199
27034	26006699	Disease	p.Met103Thr	604773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	66	cd01156	7656849,NP_055199
27034	26006699	Disease	p.Met103Thr	604773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	53	cd01163	7656849,NP_055199
27034	26006699	Disease	p.Met103Thr	604773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	63	cd01162	7656849,NP_055199
27034	26006699	Disease	p.Met103Thr	604773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	63	cd01157	7656849,NP_055199
27034	26006699	Disease	p.Met103Thr	604773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	167	pfam02771	7656849,NP_055199
27034	26006699	Disease	p.Met103Thr	604773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	160	COG1960	7656849,NP_055199
27034	26006699	Disease	p.Met103Thr	604773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	62	cd01160	7656849,NP_055199
27034	26006699	Disease	p.Met103Thr	604773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	74	cd01152	7656849,NP_055199
27034	26006699	Disease	p.Met103Thr	604773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	100	cd01155	7656849,NP_055199
27034	26006699	Disease	p.Met103Thr	604773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	64	cd01158	7656849,NP_055199
27034	26006699	Disease	p.Met103Thr	604773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	77	cd00567	7656849,NP_055199
27034	26006699	Disease	p.Met103Thr	604773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	96	cd01161	7656849,NP_055199
27034	26006699	Disease	p.Met103Thr	604773.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	53	cd01159	7656849,NP_055199
27034	26006699	Disease	p.Gly355Ser	604773.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	394	cd01153	7656849,NP_055199
27034	26006699	Disease	p.Gly355Ser	604773.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	339	cd01151	7656849,NP_055199
27034	26006699	Disease	p.Gly355Ser	604773.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	402	cd01154	7656849,NP_055199
27034	26006699	Disease	p.Gly355Ser	604773.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	326	cd01156	7656849,NP_055199
27034	26006699	Disease	p.Gly355Ser	604773.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	109	pfam00441	7656849,NP_055199
27034	26006699	Disease	p.Gly355Ser	604773.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	357	cd01163	7656849,NP_055199
27034	26006699	Disease	p.Gly355Ser	604773.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	324	cd01162	7656849,NP_055199
27034	26006699	Disease	p.Gly355Ser	604773.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	318	cd01157	7656849,NP_055199
27034	26006699	Disease	p.Gly355Ser	604773.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	101	pfam08028	7656849,NP_055199
27034	26006699	Disease	p.Gly355Ser	604773.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	559	COG1960	7656849,NP_055199
27034	26006699	Disease	p.Gly355Ser	604773.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	318	cd01160	7656849,NP_055199
27034	26006699	Disease	p.Gly355Ser	604773.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	338	cd01152	7656849,NP_055199
27034	26006699	Disease	p.Gly355Ser	604773.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	380	cd01155	7656849,NP_055199
27034	26006699	Disease	p.Gly355Ser	604773.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	321	cd01158	7656849,NP_055199
27034	26006699	Disease	p.Gly355Ser	604773.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	420	cd00567	7656849,NP_055199
27034	26006699	Disease	p.Gly355Ser	604773.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	375	cd01161	7656849,NP_055199
27034	26006699	Disease	p.Gly355Ser	604773.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	338	cd01159	7656849,NP_055199
27034	26006699	Disease	p.Arg308Trp	604773.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	316	cd01153	7656849,NP_055199
27034	26006699	Disease	p.Arg308Trp	604773.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	293	cd01151	7656849,NP_055199
27034	26006699	Disease	p.Arg308Trp	604773.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	344	cd01154	7656849,NP_055199
27034	26006699	Disease	p.Arg308Trp	604773.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	275	cd01156	7656849,NP_055199
27034	26006699	Disease	p.Arg308Trp	604773.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	50	pfam00441	7656849,NP_055199
27034	26006699	Disease	p.Arg308Trp	604773.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	277	cd01163	7656849,NP_055199
27034	26006699	Disease	p.Arg308Trp	604773.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	277	cd01162	7656849,NP_055199
27034	26006699	Disease	p.Arg308Trp	604773.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	272	cd01157	7656849,NP_055199
27034	26006699	Disease	p.Arg308Trp	604773.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	38	pfam08028	7656849,NP_055199
27034	26006699	Disease	p.Arg308Trp	604773.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	472	COG1960	7656849,NP_055199
27034	26006699	Disease	p.Arg308Trp	604773.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	272	cd01160	7656849,NP_055199
27034	26006699	Disease	p.Arg308Trp	604773.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	289	cd01152	7656849,NP_055199
27034	26006699	Disease	p.Arg308Trp	604773.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	332	cd01155	7656849,NP_055199
27034	26006699	Disease	p.Arg308Trp	604773.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	274	cd01158	7656849,NP_055199
27034	26006699	Disease	p.Arg308Trp	604773.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	361	cd00567	7656849,NP_055199
27034	26006699	Disease	p.Arg308Trp	604773.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	310	cd01161	7656849,NP_055199
27034	26006699	Disease	p.Arg308Trp	604773.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	275	cd01159	7656849,NP_055199
27034	26006699	Disease	p.His267Gln	604773.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	275	cd01153	7656849,NP_055199
27034	26006699	Disease	p.His267Gln	604773.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	251	cd01151	7656849,NP_055199
27034	26006699	Disease	p.His267Gln	604773.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	303	cd01154	7656849,NP_055199
27034	26006699	Disease	p.His267Gln	604773.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	234	cd01156	7656849,NP_055199
27034	26006699	Disease	p.His267Gln	604773.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	5	pfam00441	7656849,NP_055199
27034	26006699	Disease	p.His267Gln	604773.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	240	cd01163	7656849,NP_055199
27034	26006699	Disease	p.His267Gln	604773.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	236	cd01162	7656849,NP_055199
27034	26006699	Disease	p.His267Gln	604773.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	231	cd01157	7656849,NP_055199
27034	26006699	Disease	p.His267Gln	604773.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	413	COG1960	7656849,NP_055199
27034	26006699	Disease	p.His267Gln	604773.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	231	cd01160	7656849,NP_055199
27034	26006699	Disease	p.His267Gln	604773.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	244	cd01152	7656849,NP_055199
27034	26006699	Disease	p.His267Gln	604773.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	289	cd01155	7656849,NP_055199
27034	26006699	Disease	p.His267Gln	604773.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	232	cd01158	7656849,NP_055199
27034	26006699	Disease	p.His267Gln	604773.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	300	cd00567	7656849,NP_055199
27034	26006699	Disease	p.His267Gln	604773.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	269	cd01161	7656849,NP_055199
27034	26006699	Disease	p.His267Gln	604773.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	234	cd01159	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	604773.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	310	cd01153	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	604773.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	286	cd01151	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	604773.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	338	cd01154	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	604773.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	269	cd01156	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	604773.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	41	pfam00441	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	604773.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	268	cd01163	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	604773.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	271	cd01162	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	604773.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	266	cd01157	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	604773.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	26	pfam08028	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	604773.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	453	COG1960	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	604773.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	266	cd01160	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	604773.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	276	cd01152	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	604773.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	326	cd01155	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	604773.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	268	cd01158	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	604773.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	348	cd00567	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	604773.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	304	cd01161	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	604773.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604773	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	269	cd01159	7656849,NP_055199
7827	12230467	Disease	p.Arg138Gln	604766.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	30	smart00244	7657615,NP_055440
7827	12230467	Disease	p.Arg138Gln	604766.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	11	cd03403	7657615,NP_055440
7827	12230467	Disease	p.Arg138Gln	604766.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	14	cd03405	7657615,NP_055440
7827	12230467	Disease	p.Arg138Gln	604766.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	34	pfam01145	7657615,NP_055440
7827	12230467	Disease	p.Arg138Gln	604766.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	29	cd03404	7657615,NP_055440
7827	12230467	Disease	p.Arg138Gln	604766.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	63	COG0330	7657615,NP_055440
7827	12230467	Disease	p.Pro20Leu	604766.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	No Domain	N/A	7657615,NP_055440
7827	12230467	Disease	p.Gly92Cys	604766.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	No Domain	N/A	7657615,NP_055440
7827	12230467	Disease	p.Asp160Gly	604766.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	70	smart00244	7657615,NP_055440
7827	12230467	Disease	p.Asp160Gly	604766.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	43	cd03403	7657615,NP_055440
7827	12230467	Disease	p.Asp160Gly	604766.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	46	cd03405	7657615,NP_055440
7827	12230467	Disease	p.Asp160Gly	604766.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	182	pfam01145	7657615,NP_055440
7827	12230467	Disease	p.Asp160Gly	604766.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	50	cd03404	7657615,NP_055440
7827	12230467	Disease	p.Asp160Gly	604766.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	109	COG0330	7657615,NP_055440
7827	12230467	Disease	p.Val180Met	604766.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	187	smart00244	7657615,NP_055440
7827	12230467	Disease	p.Val180Met	604766.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	94	cd03403	7657615,NP_055440
7827	12230467	Disease	p.Val180Met	604766.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	17	cd02106	7657615,NP_055440
7827	12230467	Disease	p.Val180Met	604766.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	70	cd03405	7657615,NP_055440
7827	12230467	Disease	p.Val180Met	604766.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	288	pfam01145	7657615,NP_055440
7827	12230467	Disease	p.Val180Met	604766.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	100	cd03404	7657615,NP_055440
7827	12230467	Disease	p.Val180Met	604766.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	153	COG0330	7657615,NP_055440
7827	12230467	Disease	p.Arg291Trp	604766.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	229	cd03403	7657615,NP_055440
7827	12230467	Disease	p.Arg291Trp	604766.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	259	cd03405	7657615,NP_055440
7827	12230467	Disease	p.Arg291Trp	604766.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	658	pfam01145	7657615,NP_055440
7827	12230467	Disease	p.Arg291Trp	604766.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	277	cd03404	7657615,NP_055440
7827	12230467	Disease	p.Arg291Trp	604766.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2	OMIM	360	COG0330	7657615,NP_055440
7827	12230467	Disease	p.Arg229Gln	604766.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO	OMIM	314	smart00244	7657615,NP_055440
7827	12230467	Disease	p.Arg229Gln	604766.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO	OMIM	158	cd03403	7657615,NP_055440
7827	12230467	Disease	p.Arg229Gln	604766.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO	OMIM	117	cd02106	7657615,NP_055440
7827	12230467	Disease	p.Arg229Gln	604766.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO	OMIM	131	cd03405	7657615,NP_055440
7827	12230467	Disease	p.Arg229Gln	604766.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO	OMIM	422	pfam01145	7657615,NP_055440
7827	12230467	Disease	p.Arg229Gln	604766.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO	OMIM	165	cd03404	7657615,NP_055440
7827	12230467	Disease	p.Arg229Gln	604766.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604766	NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO	OMIM	236	COG0330	7657615,NP_055440
6718	300116271	Disease	p.Pro198Leu	604741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	366	COG0667	NULL
6718	300116271	Disease	p.Pro198Leu	604741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	472	cd06660	NULL
6718	300116271	Disease	p.Pro198Leu	604741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	470	pfam00248	NULL
6718	300116271	Disease	p.Pro198Leu	604741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	288	COG0656	NULL
6718	1703007	Disease	p.Pro198Leu	604741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	286	COG0667	5174695,NP_005980
6718	1703007	Disease	p.Pro198Leu	604741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	192	COG4989	5174695,NP_005980
6718	1703007	Disease	p.Pro198Leu	604741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	393	cd06660	5174695,NP_005980
6718	1703007	Disease	p.Pro198Leu	604741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	338	pfam00248	5174695,NP_005980
6718	1703007	Disease	p.Pro198Leu	604741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	234	COG0656	5174695,NP_005980
6718	300116273	Disease	p.Pro198Leu	604741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	192	COG4989	NULL
6718	300116273	Disease	p.Pro198Leu	604741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	286	COG0667	NULL
6718	300116273	Disease	p.Pro198Leu	604741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	393	cd06660	NULL
6718	300116273	Disease	p.Pro198Leu	604741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	338	pfam00248	NULL
6718	300116273	Disease	p.Pro198Leu	604741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	234	COG0656	NULL
6718	300116271	Disease	p.Leu106Phe	604741.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	176	COG0667	NULL
6718	300116271	Disease	p.Leu106Phe	604741.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	217	cd06660	NULL
6718	300116271	Disease	p.Leu106Phe	604741.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	205	pfam00248	NULL
6718	300116271	Disease	p.Leu106Phe	604741.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	123	COG0656	NULL
6718	1703007	Disease	p.Leu106Phe	604741.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	176	COG0667	5174695,NP_005980
6718	1703007	Disease	p.Leu106Phe	604741.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	118	COG4989	5174695,NP_005980
6718	1703007	Disease	p.Leu106Phe	604741.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	217	cd06660	5174695,NP_005980
6718	1703007	Disease	p.Leu106Phe	604741.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	205	pfam00248	5174695,NP_005980
6718	1703007	Disease	p.Leu106Phe	604741.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	123	COG0656	5174695,NP_005980
6718	300116273	Disease	p.Leu106Phe	604741.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	118	COG4989	NULL
6718	300116273	Disease	p.Leu106Phe	604741.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	176	COG0667	NULL
6718	300116273	Disease	p.Leu106Phe	604741.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	217	cd06660	NULL
6718	300116273	Disease	p.Leu106Phe	604741.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	205	pfam00248	NULL
6718	300116273	Disease	p.Leu106Phe	604741.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	123	COG0656	NULL
6718	300116271	Disease	p.Pro133Arg	604741.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	224	COG0667	NULL
6718	300116271	Disease	p.Pro133Arg	604741.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	336	cd06660	NULL
6718	300116271	Disease	p.Pro133Arg	604741.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	279	pfam00248	NULL
6718	300116271	Disease	p.Pro133Arg	604741.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	151	COG0656	NULL
6718	1703007	Disease	p.Pro133Arg	604741.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	224	COG0667	5174695,NP_005980
6718	1703007	Disease	p.Pro133Arg	604741.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	142_G	COG4989	5174695,NP_005980
6718	1703007	Disease	p.Pro133Arg	604741.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	274	cd06660	5174695,NP_005980
6718	1703007	Disease	p.Pro133Arg	604741.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	234	pfam00248	5174695,NP_005980
6718	1703007	Disease	p.Pro133Arg	604741.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	166	COG0656	5174695,NP_005980
6718	300116273	Disease	p.Pro133Arg	604741.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	142_G	COG4989	NULL
6718	300116273	Disease	p.Pro133Arg	604741.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	224	COG0667	NULL
6718	300116273	Disease	p.Pro133Arg	604741.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	274	cd06660	NULL
6718	300116273	Disease	p.Pro133Arg	604741.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	234	pfam00248	NULL
6718	300116273	Disease	p.Pro133Arg	604741.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	166	COG0656	NULL
6718	300116271	Disease	p.Arg261Cys	604741.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	457	COG0667	NULL
6718	300116271	Disease	p.Arg261Cys	604741.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	577	pfam00248	NULL
6718	300116271	Disease	p.Arg261Cys	604741.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	366	COG0656	NULL
6718	1703007	Disease	p.Arg261Cys	604741.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	399	COG0667	5174695,NP_005980
6718	1703007	Disease	p.Arg261Cys	604741.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	276	COG4989	5174695,NP_005980
6718	1703007	Disease	p.Arg261Cys	604741.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	551	cd06660	5174695,NP_005980
6718	1703007	Disease	p.Arg261Cys	604741.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	494	pfam00248	5174695,NP_005980
6718	1703007	Disease	p.Arg261Cys	604741.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	322	COG0656	5174695,NP_005980
6718	300116273	Disease	p.Arg261Cys	604741.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	280	COG4989	NULL
6718	300116273	Disease	p.Arg261Cys	604741.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	399	COG0667	NULL
6718	300116273	Disease	p.Arg261Cys	604741.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	551	cd06660	NULL
6718	300116273	Disease	p.Arg261Cys	604741.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	494	pfam00248	NULL
6718	300116273	Disease	p.Arg261Cys	604741.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604741	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	OMIM	322	COG0656	NULL
10102	291084498	Disease	p.Arg333Trp	604723.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604723	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3	OMIM	No Domain	N/A	NULL
10102	291084500	Disease	p.Arg333Trp	604723.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604723	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3	OMIM	368	COG0264	NULL
10102	291084500	Disease	p.Arg333Trp	604723.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604723	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3	OMIM	513	pfam00889	NULL
10102	291084502	Disease	p.Arg333Trp	604723.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604723	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3	OMIM	No Domain	N/A	NULL
10102	12644268	Disease	p.Arg333Trp	604723.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604723	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3	OMIM	No Domain	N/A	171846268,NP_005717
7036	20140912	Disease	p.Met172Lys	604720.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604720	HEMOCHROMATOSIS, TYPE 3	OMIM	No Domain	N/A	33589848,NP_003218
7036	20140912	Disease	p.Arg455Gln	604720.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604720	HEMOCHROMATOSIS, TYPE 1, MODIFIER OF	OMIM	52	pfam04389	33589848,NP_003218
7036	20140912	Disease	p.Arg455Gln	604720.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604720	HEMOCHROMATOSIS, TYPE 1, MODIFIER OF	OMIM	288	COG2234	33589848,NP_003218
7036	20140912	Disease	p.Gln690Pro	604720.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604720	HEMOCHROMATOSIS, TYPE 3	OMIM	23	pfam04253	33589848,NP_003218
50484	74727333	Disease	p.Glu194Lys	604712.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	216	cd01049	42544136,NP_056528
50484	74727333	Disease	p.Glu194Lys	604712.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	165	pfam00268	42544136,NP_056528
50484	74727333	Disease	p.Glu194Lys	604712.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	216	COG0208	42544136,NP_056528
50484	289177074	Disease	p.Glu194Lys	604712.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	92	pfam00268	NULL
50484	289177074	Disease	p.Glu194Lys	604712.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	113	COG0208	NULL
50484	289177074	Disease	p.Glu194Lys	604712.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	105	cd01049	NULL
50484	289177076	Disease	p.Glu194Lys	604712.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	220	pfam00268	NULL
50484	289177076	Disease	p.Glu194Lys	604712.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	615	COG0208	NULL
50484	289177076	Disease	p.Glu194Lys	604712.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	639	cd01049	NULL
50484	74727333	Disease	p.Cys236Phe	604712.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	276	cd01049	42544136,NP_056528
50484	74727333	Disease	p.Cys236Phe	604712.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	207	pfam00268	42544136,NP_056528
50484	74727333	Disease	p.Cys236Phe	604712.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	605	COG0208	42544136,NP_056528
50484	289177074	Disease	p.Cys236Phe	604712.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	135	pfam00268	NULL
50484	289177074	Disease	p.Cys236Phe	604712.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	157	COG0208	NULL
50484	289177074	Disease	p.Cys236Phe	604712.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	148	cd01049	NULL
50484	289177076	Disease	p.Cys236Phe	604712.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	272	pfam00268	NULL
50484	289177076	Disease	p.Cys236Phe	604712.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	669	COG0208	NULL
50484	289177076	Disease	p.Cys236Phe	604712.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	701	cd01049	NULL
50484	74727333	Disease	p.Gly229Val	604712.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	269	cd01049	42544136,NP_056528
50484	74727333	Disease	p.Gly229Val	604712.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	200	pfam00268	42544136,NP_056528
50484	74727333	Disease	p.Gly229Val	604712.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	598	COG0208	42544136,NP_056528
50484	289177074	Disease	p.Gly229Val	604712.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	128	pfam00268	NULL
50484	289177074	Disease	p.Gly229Val	604712.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	149	COG0208	NULL
50484	289177074	Disease	p.Gly229Val	604712.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	141	cd01049	NULL
50484	289177076	Disease	p.Gly229Val	604712.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	265	pfam00268	NULL
50484	289177076	Disease	p.Gly229Val	604712.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	662	COG0208	NULL
50484	289177076	Disease	p.Gly229Val	604712.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY	OMIM	694	cd01049	NULL
50484	74727333	Disease	p.Arg110His	604712.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED	OMIM	90	cd01049	42544136,NP_056528
50484	74727333	Disease	p.Arg110His	604712.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED	OMIM	80	pfam00268	42544136,NP_056528
50484	74727333	Disease	p.Arg110His	604712.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED	OMIM	99	COG0208	42544136,NP_056528
50484	289177074	Disease	p.Arg110His	604712.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED	OMIM	7	pfam00268	NULL
50484	289177074	Disease	p.Arg110His	604712.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED	OMIM	23	COG0208	NULL
50484	289177076	Disease	p.Arg110His	604712.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED	OMIM	133	pfam00268	NULL
50484	289177076	Disease	p.Arg110His	604712.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED	OMIM	155	COG0208	NULL
50484	289177076	Disease	p.Arg110His	604712.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED	OMIM	146	cd01049	NULL
50484	74727333	Disease	p.Arg121His	604712.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED	OMIM	104	cd01049	42544136,NP_056528
50484	74727333	Disease	p.Arg121His	604712.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED	OMIM	91	pfam00268	42544136,NP_056528
50484	74727333	Disease	p.Arg121His	604712.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED	OMIM	112	COG0208	42544136,NP_056528
50484	289177074	Disease	p.Arg121His	604712.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED	OMIM	18	pfam00268	NULL
50484	289177074	Disease	p.Arg121His	604712.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED	OMIM	34	COG0208	NULL
50484	289177074	Disease	p.Arg121His	604712.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED	OMIM	17	cd01049	NULL
50484	289177076	Disease	p.Arg121His	604712.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED	OMIM	144	pfam00268	NULL
50484	289177076	Disease	p.Arg121His	604712.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED	OMIM	166	COG0208	NULL
50484	289177076	Disease	p.Arg121His	604712.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604712	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED	OMIM	157	cd01049	NULL
8425	160410003	Disease	p.Cys274Gly	604710.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604710	CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES	OMIM	No Domain	N/A	110347431,NP_001036009
8425	110347412	Disease	p.Cys274Gly	604710.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604710	CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES	OMIM	No Domain	N/A	NULL
8425	110347437	Disease	p.Cys274Gly	604710.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604710	CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES	OMIM	No Domain	N/A	NULL
11216	71153490	Disease	p.Ile646Val	604694.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604694	CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	21493033,NP_009133
3199	6016292	Disease	p.Gln186Lys	604685.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604685	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE	OMIM	96	COG5576	10140847,NP_006726
3199	6016292	Disease	p.Gln186Lys	604685.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604685	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE	OMIM	53	pfam00046	10140847,NP_006726
3199	6016292	Disease	p.Gln186Lys	604685.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604685	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE	OMIM	83	smart00389	10140847,NP_006726
3199	6016292	Disease	p.Gln186Lys	604685.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604685	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE	OMIM	75	cd00086	10140847,NP_006726
30061	48428687	Disease	p.Asn144His	604653.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604653	HEMOCHROMATOSIS, TYPE 4	OMIM	136	pfam06963	7657100,NP_055400
30061	48428687	Disease	p.Ala77Asp	604653.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604653	HEMOCHROMATOSIS, TYPE 4	OMIM	56	pfam06963	7657100,NP_055400
30061	48428687	Disease	p.Asp157Gly	604653.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604653	HEMOCHROMATOSIS, TYPE 4	OMIM	149	pfam06963	7657100,NP_055400
30061	48428687	Disease	p.Gln182His	604653.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604653	HEMOCHROMATOSIS, TYPE 4	OMIM	176	pfam06963	7657100,NP_055400
30061	48428687	Disease	p.Gly323Val	604653.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604653	HEMOCHROMATOSIS, TYPE 4	OMIM	338	pfam06963	7657100,NP_055400
30061	48428687	Disease	p.Asp181Val	604653.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604653	HEMOCHROMATOSIS, TYPE 4	OMIM	175	pfam06963	7657100,NP_055400
30061	48428687	Disease	p.Gly80Val	604653.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604653	HEMOCHROMATOSIS, TYPE 4	OMIM	59	pfam06963	7657100,NP_055400
30061	48428687	Disease	p.Gly267Asp	604653.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604653	HEMOCHROMATOSIS, TYPE 4	OMIM	279	pfam06963	7657100,NP_055400
9479	17433093	Disease	p.Ser59Asn	604641.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604641	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	No Domain	N/A	4885433,NP_005447
81	13123943	Disease	p.Lys228Glu	604638.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604638	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1	OMIM	179	smart00033	12025678,NP_004915
81	13123943	Disease	p.Lys228Glu	604638.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604638	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1	OMIM	62	pfam11971	12025678,NP_004915
81	13123943	Disease	p.Lys228Glu	604638.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604638	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1	OMIM	190	pfam00307	12025678,NP_004915
81	13123943	Disease	p.Lys228Glu	604638.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604638	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1	OMIM	96	cd00014	12025678,NP_004915
81	13123943	Disease	p.Lys228Glu	604638.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604638	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1	OMIM	219	COG5069	12025678,NP_004915
81	13123943	Disease	p.Thr232Ile	604638.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604638	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1	OMIM	184	smart00033	12025678,NP_004915
81	13123943	Disease	p.Thr232Ile	604638.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604638	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1	OMIM	66	pfam11971	12025678,NP_004915
81	13123943	Disease	p.Thr232Ile	604638.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604638	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1	OMIM	197	pfam00307	12025678,NP_004915
81	13123943	Disease	p.Thr232Ile	604638.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604638	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1	OMIM	100	cd00014	12025678,NP_004915
81	13123943	Disease	p.Thr232Ile	604638.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604638	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1	OMIM	223	COG5069	12025678,NP_004915
81	13123943	Disease	p.Ser235Pro	604638.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604638	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1	OMIM	191	smart00033	12025678,NP_004915
81	13123943	Disease	p.Ser235Pro	604638.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604638	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1	OMIM	69	pfam11971	12025678,NP_004915
81	13123943	Disease	p.Ser235Pro	604638.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604638	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1	OMIM	200	pfam00307	12025678,NP_004915
81	13123943	Disease	p.Ser235Pro	604638.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604638	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1	OMIM	103	cd00014	12025678,NP_004915
81	13123943	Disease	p.Ser235Pro	604638.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604638	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1	OMIM	226	COG5069	12025678,NP_004915
30008	190343004	Disease	p.Glu57Lys	604633.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604633	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I	OMIM	4	smart00179	NULL
30008	190343004	Disease	p.Arg279Cys	604633.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604633	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I	OMIM	83	cd00053	NULL
30008	190343004	Disease	p.Arg279Cys	604633.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604633	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I	OMIM	80	smart00181	NULL
30008	190343004	Disease	p.Arg279Cys	604633.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604633	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I	OMIM	87	cd00054	NULL
30008	190343004	Disease	p.Arg279Cys	604633.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604633	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I	OMIM	81	smart00179	NULL
8431	9978744	Disease	p.Ala195Ser	604630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604630	OBESITY, MILD, EARLY-ONSET	OMIM	164	cd07349	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	604630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604630	OBESITY, MILD, EARLY-ONSET	OMIM	178	cd06951	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	604630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604630	OBESITY, MILD, EARLY-ONSET	OMIM	184	cd07350	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	604630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604630	OBESITY, MILD, EARLY-ONSET	OMIM	183	cd06944	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	604630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604630	OBESITY, MILD, EARLY-ONSET	OMIM	169	cd06157	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	604630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604630	OBESITY, MILD, EARLY-ONSET	OMIM	165	cd06952	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	604630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604630	OBESITY, MILD, EARLY-ONSET	OMIM	255	pfam00104	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	604630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604630	OBESITY, MILD, EARLY-ONSET	OMIM	174	cd06948	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	604630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604630	OBESITY, MILD, EARLY-ONSET	OMIM	799	smart00430	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	604630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604630	OBESITY, MILD, EARLY-ONSET	OMIM	203	cd06943	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	604630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604630	OBESITY, MILD, EARLY-ONSET	OMIM	182	cd06950	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	604630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604630	OBESITY, MILD, EARLY-ONSET	OMIM	192	cd06930	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	604630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604630	OBESITY, MILD, EARLY-ONSET	OMIM	178	cd06929	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	604630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604630	OBESITY, MILD, EARLY-ONSET	OMIM	216	cd07068	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	604630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604630	OBESITY, MILD, EARLY-ONSET	OMIM	175	cd06931	13259503,NP_068804
8988	6016270	Disease	p.Arg7Ser	604624.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604624	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC	OMIM	No Domain	N/A	5453688,NP_006299
9211	32469669	Disease	p.Glu383Ala	604619.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604619	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT	OMIM	21	pfam03736	4826816,NP_005088
9211	32469669	Disease	p.Cys46Arg	604619.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604619	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	4826816,NP_005088
9211	32469669	Disease	p.Phe318Cys	604619.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604619	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT	OMIM	3	pfam03736	4826816,NP_005088
9211	32469669	Disease	p.Leu232Pro	604619.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604619	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT	OMIM	9	pfam03736	4826816,NP_005088
9211	32469669	Disease	p.Arg136Trp	604619.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604619	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT	OMIM	28	smart00370	4826816,NP_005088
9211	32469669	Disease	p.Arg136Trp	604619.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604619	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT	OMIM	28	smart00369	4826816,NP_005088
9211	32469669	Disease	p.Ile122Lys	604619.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604619	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT	OMIM	10	smart00370	4826816,NP_005088
9211	32469669	Disease	p.Ile122Lys	604619.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604619	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT	OMIM	10	smart00369	4826816,NP_005088
9095	6226281	Disease	p.Ser128Phe	604614.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604614	ACTH DEFICIENCY, ISOLATED	OMIM	94	pfam00907	4827024,NP_005140
9095	6226281	Disease	p.Ser128Phe	604614.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604614	ACTH DEFICIENCY, ISOLATED	OMIM	102	cd00182	4827024,NP_005140
9095	6226281	Disease	p.Ser128Phe	604614.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604614	ACTH DEFICIENCY, ISOLATED	OMIM	110	smart00425	4827024,NP_005140
9095	6226281	Disease	p.Met86Arg	604614.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604614	ACTH DEFICIENCY, ISOLATED	OMIM	49	pfam00907	4827024,NP_005140
9095	6226281	Disease	p.Met86Arg	604614.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604614	ACTH DEFICIENCY, ISOLATED	OMIM	54	cd00182	4827024,NP_005140
9095	6226281	Disease	p.Met86Arg	604614.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604614	ACTH DEFICIENCY, ISOLATED	OMIM	53	smart00425	4827024,NP_005140
641	1705486	Disease	p.Lys577Met	604611.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604611	WERNER SYNDROME	OMIM	No Domain	N/A	4557365,NP_000048
641	1705486	Disease	p.Lys135Glu	604611.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604611	WERNER SYNDROME	OMIM	No Domain	N/A	4557365,NP_000048
641	1705486	Disease	p.Ile843Thr	604610.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604610	BLOOM SYNDROME	OMIM	314	COG1061	4557365,NP_000048
641	1705486	Disease	p.Ile843Thr	604610.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604610	BLOOM SYNDROME	OMIM	1222	smart00487	4557365,NP_000048
641	1705486	Disease	p.Ile843Thr	604610.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604610	BLOOM SYNDROME	OMIM	378	COG0513	4557365,NP_000048
641	1705486	Disease	p.Ile843Thr	604610.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604610	BLOOM SYNDROME	OMIM	328	COG0514	4557365,NP_000048
641	1705486	Disease	p.Cys1036Phe	604610.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604610	BLOOM SYNDROME	OMIM	672	COG1061	4557365,NP_000048
641	1705486	Disease	p.Cys1036Phe	604610.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604610	BLOOM SYNDROME	OMIM	864	COG0513	4557365,NP_000048
641	1705486	Disease	p.Cys1036Phe	604610.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604610	BLOOM SYNDROME	OMIM	575	COG0514	4557365,NP_000048
10312	223634720	Disease	p.Gly405Arg	604592.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604592	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1	OMIM	518	COG1269	19924145,NP_006010
10312	223634720	Disease	p.Gly405Arg	604592.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604592	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1	OMIM	462	pfam01496	19924145,NP_006010
10312	5174717	Disease	p.Gly405Arg	604592.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604592	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1	OMIM	708	pfam01496	NULL
10312	5174717	Disease	p.Gly405Arg	604592.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604592	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1	OMIM	733	COG1269	NULL
10312	223634720	Disease	p.Arg444Leu	604592.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604592	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1	OMIM	557	COG1269	19924145,NP_006010
10312	223634720	Disease	p.Arg444Leu	604592.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604592	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1	OMIM	501	pfam01496	19924145,NP_006010
10312	5174717	Disease	p.Arg444Leu	604592.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604592	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1	OMIM	767	pfam01496	NULL
10312	5174717	Disease	p.Arg444Leu	604592.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604592	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1	OMIM	772	COG1269	NULL
2213	299890847	Disease	p.Ile232Thr	604590.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604590	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO||MALARIA, RESISTANCE TO	OMIM	No Domain	N/A	NULL
2213	50511932	Disease	p.Ile232Thr	604590.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604590	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO||MALARIA, RESISTANCE TO	OMIM	No Domain	N/A	NULL
2213	50511928	Disease	p.Ile232Thr	604590.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604590	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO||MALARIA, RESISTANCE TO	OMIM	No Domain	N/A	NULL
2213	50511926	Disease	p.Ile232Thr	604590.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604590	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO||MALARIA, RESISTANCE TO	OMIM	No Domain	N/A	NULL
2213	8039788	Disease	p.Ile232Thr	604590.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604590	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO||MALARIA, RESISTANCE TO	OMIM	No Domain	N/A	50511930,NP_003992
10939	126302516	Disease	p.Glu691Lys	604581.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604581	SPINOCEREBELLAR ATAXIA 28	OMIM	683	COG0465	300192933,NP_006787
10939	126302516	Disease	p.Glu691Lys	604581.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604581	SPINOCEREBELLAR ATAXIA 28	OMIM	144	pfam01434	300192933,NP_006787
10939	126302516	Disease	p.Ala694Glu	604581.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604581	SPINOCEREBELLAR ATAXIA 28	OMIM	686	COG0465	300192933,NP_006787
10939	126302516	Disease	p.Ala694Glu	604581.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604581	SPINOCEREBELLAR ATAXIA 28	OMIM	147	pfam01434	300192933,NP_006787
10939	126302516	Disease	p.Arg702Gln	604581.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604581	SPINOCEREBELLAR ATAXIA 28	OMIM	694	COG0465	300192933,NP_006787
10939	126302516	Disease	p.Arg702Gln	604581.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604581	SPINOCEREBELLAR ATAXIA 28	OMIM	155	pfam01434	300192933,NP_006787
10939	126302516	Disease	p.Asn432Thr	604581.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604581	SPINOCEREBELLAR ATAXIA 28	OMIM	395	COG0465	300192933,NP_006787
10939	126302516	Disease	p.Asn432Thr	604581.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604581	SPINOCEREBELLAR ATAXIA 28	OMIM	408	cd00009	300192933,NP_006787
10939	126302516	Disease	p.Asn432Thr	604581.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604581	SPINOCEREBELLAR ATAXIA 28	OMIM	995	COG0464	300192933,NP_006787
10939	126302516	Disease	p.Asn432Thr	604581.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604581	SPINOCEREBELLAR ATAXIA 28	OMIM	249	COG1223	300192933,NP_006787
10939	126302516	Disease	p.Asn432Thr	604581.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604581	SPINOCEREBELLAR ATAXIA 28	OMIM	170	pfam00004	300192933,NP_006787
10939	126302516	Disease	p.Asn432Thr	604581.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604581	SPINOCEREBELLAR ATAXIA 28	OMIM	325	COG1222	300192933,NP_006787
10939	126302516	Disease	p.Asn432Thr	604581.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604581	SPINOCEREBELLAR ATAXIA 28	OMIM	361	smart00382	300192933,NP_006787
10939	126302516	Disease	p.Asn432Thr	604581.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604581	SPINOCEREBELLAR ATAXIA 28	OMIM	146	pfam07724	300192933,NP_006787
10939	126302516	Disease	p.Asn432Thr	604581.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604581	SPINOCEREBELLAR ATAXIA 28	OMIM	119	pfam07728	300192933,NP_006787
10516	12643876	Disease	p.Ser227Pro	604580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604580	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I	OMIM	48	cd00053	19743803,NP_006320
10516	12643876	Disease	p.Ser227Pro	604580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604580	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I	OMIM	47	smart00181	19743803,NP_006320
10516	12643876	Disease	p.Ser227Pro	604580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604580	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I	OMIM	45	smart00179	19743803,NP_006320
10516	12643876	Disease	p.Ser227Pro	604580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604580	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I	OMIM	50	cd00054	19743803,NP_006320
10516	12643876	Disease	p.Ser227Pro	604580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604580	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I	OMIM	29	pfam07645	19743803,NP_006320
10516	12643876	Disease	p.Val60Leu	604580.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604580	MACULAR DEGENERATION, AGE-RELATED, 3	OMIM	No Domain	N/A	19743803,NP_006320
10516	12643876	Disease	p.Arg71Gln	604580.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604580	MACULAR DEGENERATION, AGE-RELATED, 3	OMIM	No Domain	N/A	19743803,NP_006320
10516	12643876	Disease	p.Pro87Ser	604580.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604580	MACULAR DEGENERATION, AGE-RELATED, 3	OMIM	No Domain	N/A	19743803,NP_006320
10516	12643876	Disease	p.Ile169Thr	604580.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604580	MACULAR DEGENERATION, AGE-RELATED, 3	OMIM	2	pfam07645	19743803,NP_006320
10516	12643876	Disease	p.Ile169Thr	604580.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604580	MACULAR DEGENERATION, AGE-RELATED, 3	OMIM	2	cd00054	19743803,NP_006320
10516	12643876	Disease	p.Ile169Thr	604580.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604580	MACULAR DEGENERATION, AGE-RELATED, 3	OMIM	2	smart00179	19743803,NP_006320
10516	12643876	Disease	p.Arg351Trp	604580.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604580	MACULAR DEGENERATION, AGE-RELATED, 3	OMIM	No Domain	N/A	19743803,NP_006320
10516	12643876	Disease	p.Ala363Thr	604580.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604580	MACULAR DEGENERATION, AGE-RELATED, 3	OMIM	No Domain	N/A	19743803,NP_006320
10516	12643876	Disease	p.Gly412Glu	604580.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604580	MACULAR DEGENERATION, AGE-RELATED, 3	OMIM	No Domain	N/A	19743803,NP_006320
8322	62298045	Disease	p.Arg417Gln	604579.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604579	EXUDATIVE VITREORETINOPATHY 1||EXUDATIVE VITREORETINOPATHY, DIGENIC	OMIM	249	pfam01534	22547161,NP_036325
8322	62298045	Disease	p.Met342Val	604579.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604579	EXUDATIVE VITREORETINOPATHY 1	OMIM	174	pfam01534	22547161,NP_036325
8322	62298045	Disease	p.Trp335Cys	604579.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604579	EXUDATIVE VITREORETINOPATHY 1	OMIM	166	pfam01534	22547161,NP_036325
8322	62298045	Disease	p.Ile256Val	604579.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604579	RETINOPATHY OF PREMATURITY	OMIM	49	pfam01534	22547161,NP_036325
26047	17433089	Disease	p.Ile869Thr	604569.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604569	AUTISM, SUSCEPTIBILITY TO, 15	OMIM	58	pfam00054	7662350,NP_054860
26047	17433089	Disease	p.Ile869Thr	604569.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604569	AUTISM, SUSCEPTIBILITY TO, 15	OMIM	82	pfam02210	7662350,NP_054860
26047	17433089	Disease	p.Ile869Thr	604569.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604569	AUTISM, SUSCEPTIBILITY TO, 15	OMIM	119	cd00110	7662350,NP_054860
26047	17433089	Disease	p.Ile869Thr	604569.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604569	AUTISM, SUSCEPTIBILITY TO, 15	OMIM	168	smart00282	7662350,NP_054860
29929	38026892	Disease	p.Ala333Val	604566.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604566	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic	OMIM	404	pfam03155	NULL
29929	38026892	Disease	p.Ser478Pro	604566.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604566	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic	OMIM	563	pfam03155	NULL
3420	28178819	Disease	p.Leu98Pro	604526.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604526	RETINITIS PIGMENTOSA 46	OMIM	287	COG0473	NULL
3420	28178819	Disease	p.Leu98Pro	604526.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604526	RETINITIS PIGMENTOSA 46	OMIM	363	COG0538	NULL
3420	28178819	Disease	p.Leu98Pro	604526.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604526	RETINITIS PIGMENTOSA 46	OMIM	296	pfam00180	NULL
3420	28178816	Disease	p.Leu98Pro	604526.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604526	RETINITIS PIGMENTOSA 46	OMIM	59	pfam00180	NULL
3420	28178816	Disease	p.Leu98Pro	604526.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604526	RETINITIS PIGMENTOSA 46	OMIM	62	COG0473	NULL
3420	28178816	Disease	p.Leu98Pro	604526.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604526	RETINITIS PIGMENTOSA 46	OMIM	83	COG0538	NULL
3420	146345439	Disease	p.Leu98Pro	604526.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604526	RETINITIS PIGMENTOSA 46	OMIM	59	pfam00180	28178821,NP_008830
3420	146345439	Disease	p.Leu98Pro	604526.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604526	RETINITIS PIGMENTOSA 46	OMIM	62	COG0473	28178821,NP_008830
3420	146345439	Disease	p.Leu98Pro	604526.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604526	RETINITIS PIGMENTOSA 46	OMIM	83	COG0538	28178821,NP_008830
9321	292495059	Disease	p.Asn701Ser	604505.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604505	ACHONDROGENESIS, TYPE IA	OMIM	No Domain	N/A	190194412,NP_004230
26278	122066060	Disease	p.Ala3324Pro	604490.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604490	SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE	OMIM	No Domain	N/A	163659918,NP_055178
26278	122066060	Disease	p.Trp1196Arg	604490.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604490	SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE	OMIM	No Domain	N/A	163659918,NP_055178
26278	122066060	Disease	p.Trp2498Arg	604490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604490	SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE	OMIM	No Domain	N/A	163659918,NP_055178
26278	122066060	Disease	p.Phe304Ser	604490.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604490	SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE	OMIM	No Domain	N/A	163659918,NP_055178
23600	266458397	Disease	p.Ser52Pro	604489.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604489	ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY||BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	OMIM	85	COG1804	NULL
23600	42794625	Disease	p.Ser52Pro	604489.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604489	ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY||BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	OMIM	85	COG1804	NULL
23600	266456254	Disease	p.Ser52Pro	604489.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604489	ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY||BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	OMIM	85	COG1804	NULL
23600	266458395	Disease	p.Ser52Pro	604489.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604489	ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY||BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	OMIM	85	COG1804	NULL
23600	266458393	Disease	p.Ser52Pro	604489.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604489	ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY||BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	OMIM	85	COG1804	NULL
23600	42822893	Disease	p.Ser52Pro	604489.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604489	ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY||BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	OMIM	85	COG1804	NULL
23600	266458397	Disease	p.Leu107Pro	604489.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604489	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	OMIM	141	COG1804	NULL
23600	266458397	Disease	p.Leu107Pro	604489.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604489	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	OMIM	79	pfam02515	NULL
23600	42794625	Disease	p.Leu107Pro	604489.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604489	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	OMIM	141	COG1804	NULL
23600	42794625	Disease	p.Leu107Pro	604489.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604489	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	OMIM	79	pfam02515	NULL
23600	266456254	Disease	p.Leu107Pro	604489.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604489	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	OMIM	141	COG1804	NULL
23600	266456254	Disease	p.Leu107Pro	604489.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604489	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	OMIM	79	pfam02515	NULL
23600	266458395	Disease	p.Leu107Pro	604489.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604489	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	OMIM	141	COG1804	NULL
23600	266458395	Disease	p.Leu107Pro	604489.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604489	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	OMIM	79	pfam02515	NULL
23600	266458393	Disease	p.Leu107Pro	604489.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604489	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	OMIM	141	COG1804	NULL
23600	266458393	Disease	p.Leu107Pro	604489.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604489	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	OMIM	79	pfam02515	NULL
23600	42822893	Disease	p.Leu107Pro	604489.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604489	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	OMIM	141	COG1804	NULL
23600	42822893	Disease	p.Leu107Pro	604489.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604489	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	OMIM	79	pfam02515	NULL
8557	3024716	Disease	p.Arg87Gln	604488.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604488	CARDIOMYOPATHY, DILATED, 1N	OMIM	87	pfam09470	4507435,NP_003664
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	33	cd06962	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	35	cd07171	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	35	cd07166	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	35	cd07173	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	35	cd06967	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	31	cd06959	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	31	cd06965	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	31	cd06961	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	57	smart00399	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	36	cd06964	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	38	cd07168	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	38	cd06970	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	38	cd07169	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	36	cd07170	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	39	cd07163	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd06960	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd06957	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07165	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd06963	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd06958	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07167	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07155	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07179	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	33	cd07161	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07156	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd06916	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07158	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07154	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	31	cd07162	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07164	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	38	cd06955	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	32	cd07157	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	32	cd06969	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	37	cd06968	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	32	cd06966	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	32	cd06956	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	32	pfam00105	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	50	cd07160	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	34	cd07172	7657395,NP_055064
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	35	cd07171	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	35	cd07166	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	35	cd07173	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	35	cd06967	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	31	cd06959	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	31	cd06965	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	31	cd06961	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	57	smart00399	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	36	cd06964	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	33	cd06962	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	38	cd07168	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	38	cd06970	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	38	cd07169	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	36	cd07170	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	39	cd07163	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd06960	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd06957	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07165	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd06963	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd06958	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07167	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07155	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07179	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	33	cd07161	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07156	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd06916	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07158	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07154	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	31	cd07162	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07164	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	38	cd06955	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	32	cd07157	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	32	cd06969	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	37	cd06968	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	32	cd06966	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	32	cd06956	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	32	pfam00105	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	34	cd07172	NULL
10002	7706515	Disease	p.Arg76Trp	604485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	50	cd07160	NULL
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	33	cd06962	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	35	cd07171	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	35	cd07166	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	35	cd07173	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	35	cd06967	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	31	cd06959	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	31	cd06965	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	31	cd06961	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	57	smart00399	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	36	cd06964	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	38	cd07168	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	38	cd06970	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	38	cd07169	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	36	cd07170	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	39	cd07163	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd06960	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd06957	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07165	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd06963	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd06958	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07167	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07155	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07179	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	33	cd07161	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07156	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd06916	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07158	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07154	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	31	cd07162	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07164	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	38	cd06955	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	32	cd07157	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	32	cd06969	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	37	cd06968	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	32	cd06966	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	32	cd06956	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	32	pfam00105	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	50	cd07160	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	34	cd07172	7657395,NP_055064
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	35	cd07171	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	35	cd07166	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	35	cd07173	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	35	cd06967	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	31	cd06959	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	31	cd06965	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	31	cd06961	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	57	smart00399	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	36	cd06964	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	33	cd06962	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	38	cd07168	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	38	cd06970	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	38	cd07169	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	36	cd07170	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	39	cd07163	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd06960	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd06957	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07165	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd06963	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd06958	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07167	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07155	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07179	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	33	cd07161	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07156	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd06916	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07158	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07154	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	31	cd07162	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	30	cd07164	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	38	cd06955	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	32	cd07157	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	32	cd06969	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	37	cd06968	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	32	cd06966	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	32	cd06956	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	32	pfam00105	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	34	cd07172	NULL
10002	7706515	Disease	p.Arg76Gln	604485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME	OMIM	50	cd07160	NULL
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	141	cd06938	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	126	cd07349	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	124	cd06947	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	138	cd07070	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	125	cd06950	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	122	cd06157	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	179	cd06953	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	143	cd06949	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	165	cd06943	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	686	smart00430	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	134	cd07071	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	240	cd06932	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	170	cd07068	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	161	cd06946	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	124	cd06930	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	146	cd07350	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	140	cd06951	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	141	cd06944	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	139	cd07069	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	134	cd07348	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	137_G	cd07072	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	166	cd06945	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	135	cd06931	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	123	cd06952	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	131	cd06929	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	154	pfam00104	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	135	cd06948	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	135	cd06937	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	180	cd06936	7657395,NP_055064
10002	7706515	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	124	cd06930	NULL
10002	7706515	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	170	cd07068	NULL
10002	7706515	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	161	cd06946	NULL
10002	7706515	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	126	cd07349	NULL
10002	7706515	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	140	cd06951	NULL
10002	7706515	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	146	cd07350	NULL
10002	7706515	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	135	cd06931	NULL
10002	7706515	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	141	cd06944	NULL
10002	7706515	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	123	cd06952	NULL
10002	7706515	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	131	cd06929	NULL
10002	7706515	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	154	pfam00104	NULL
10002	7706515	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	125	cd06950	NULL
10002	7706515	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	122	cd06157	NULL
10002	7706515	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	179	cd06953	NULL
10002	7706515	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	135	cd06948	NULL
10002	7706515	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	165	cd06943	NULL
10002	7706515	Disease	p.Arg311Gln	604485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	ENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME	OMIM	686	smart00430	NULL
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	13	cd06962	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	15	cd07171	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	15	cd07166	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	15	cd07173	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	15	cd06967	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	11	cd06959	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	11	cd06965	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	11	cd06961	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	14	smart00399	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	16	cd06964	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	18	cd07168	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	18	cd06970	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	18	cd07169	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	16	cd07170	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	19	cd07163	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd06960	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd06957	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd07165	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd06963	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd06958	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd07167	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd07155	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd07179	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	13	cd07161	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd07156	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd06916	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd07158	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd07154	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	11	cd07162	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd07164	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	18	cd06955	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	12	cd07157	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	12	cd06969	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	17	cd06968	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	12	cd06966	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	12	cd06956	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	12	pfam00105	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	30	cd07160	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	14	cd07172	7657395,NP_055064
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	15	cd07171	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	15	cd07166	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	15	cd07173	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	15	cd06967	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	11	cd06959	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	11	cd06965	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	11	cd06961	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	14	smart00399	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	16	cd06964	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	13	cd06962	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	18	cd07168	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	18	cd06970	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	18	cd07169	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	16	cd07170	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	19	cd07163	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd06960	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd06957	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd07165	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd06963	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd06958	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd07167	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd07155	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd07179	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	13	cd07161	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd07156	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd06916	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd07158	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd07154	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	11	cd07162	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	10	cd07164	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	18	cd06955	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	12	cd07157	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	12	cd06969	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	17	cd06968	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	12	cd06966	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	12	cd06956	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	12	pfam00105	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	14	cd07172	NULL
10002	7706515	Disease	p.Gly56Arg	604485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604485	RETINITIS PIGMENTOSA 37	OMIM	30	cd07160	NULL
3431	297139787	Disease	p.Leu425Ser	604457.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604457	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
3431	190343008	Disease	p.Leu425Ser	604457.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604457	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
3431	190343010	Disease	p.Leu425Ser	604457.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604457	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
3431	190343006	Disease	p.Leu425Ser	604457.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604457	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
10008	7387903	Disease	p.Arg83His	604433.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604433	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	4885443,NP_005463
10008	7387903	Disease	p.Arg99His	604433.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604433	BRUGADA SYNDROME 6	OMIM	No Domain	N/A	4885443,NP_005463
10804	34978349	Disease	p.Thr5Met	604418.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604418	DEAFNESS, AUTOSOMAL DOMINANT 3B	OMIM	4	pfam00029	158966717,NP_001103691|40254837,NP_006774|159032020,NP_001103689|158966714,NP_001103690
10804	34978349	Disease	p.Thr5Met	604418.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604418	DEAFNESS, AUTOSOMAL DOMINANT 3B	OMIM	4	pfam00029	158966717,NP_001103691|40254837,NP_006774|159032020,NP_001103689|158966714,NP_001103690
10804	34978349	Disease	p.Thr5Met	604418.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604418	DEAFNESS, AUTOSOMAL DOMINANT 3B	OMIM	4	pfam00029	158966717,NP_001103691|40254837,NP_006774|159032020,NP_001103689|158966714,NP_001103690
10804	34978349	Disease	p.Thr5Met	604418.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604418	DEAFNESS, AUTOSOMAL DOMINANT 3B	OMIM	4	pfam00029	158966717,NP_001103691|40254837,NP_006774|159032020,NP_001103689|158966714,NP_001103690
10804	34978349	Disease	p.Gly11Arg	604418.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604418	ECTODERMAL DYSPLASIA, HIDROTIC	OMIM	10	pfam00029	158966717,NP_001103691|40254837,NP_006774|159032020,NP_001103689|158966714,NP_001103690
10804	34978349	Disease	p.Gly11Arg	604418.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604418	ECTODERMAL DYSPLASIA, HIDROTIC	OMIM	10	pfam00029	158966717,NP_001103691|40254837,NP_006774|159032020,NP_001103689|158966714,NP_001103690
10804	34978349	Disease	p.Gly11Arg	604418.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604418	ECTODERMAL DYSPLASIA, HIDROTIC	OMIM	10	pfam00029	158966717,NP_001103691|40254837,NP_006774|159032020,NP_001103689|158966714,NP_001103690
10804	34978349	Disease	p.Gly11Arg	604418.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604418	ECTODERMAL DYSPLASIA, HIDROTIC	OMIM	10	pfam00029	158966717,NP_001103691|40254837,NP_006774|159032020,NP_001103689|158966714,NP_001103690
10804	34978349	Disease	p.Ala88Val	604418.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604418	ECTODERMAL DYSPLASIA, HIDROTIC	OMIM	88	pfam00029	158966717,NP_001103691|40254837,NP_006774|159032020,NP_001103689|158966714,NP_001103690
10804	34978349	Disease	p.Ala88Val	604418.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604418	ECTODERMAL DYSPLASIA, HIDROTIC	OMIM	88	pfam00029	158966717,NP_001103691|40254837,NP_006774|159032020,NP_001103689|158966714,NP_001103690
10804	34978349	Disease	p.Ala88Val	604418.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604418	ECTODERMAL DYSPLASIA, HIDROTIC	OMIM	88	pfam00029	158966717,NP_001103691|40254837,NP_006774|159032020,NP_001103689|158966714,NP_001103690
10804	34978349	Disease	p.Ala88Val	604418.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604418	ECTODERMAL DYSPLASIA, HIDROTIC	OMIM	88	pfam00029	158966717,NP_001103691|40254837,NP_006774|159032020,NP_001103689|158966714,NP_001103690
10804	34978349	Disease	p.Val37Glu	604418.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604418	ECTODERMAL DYSPLASIA, HIDROTIC	OMIM	37	pfam00029	158966717,NP_001103691|40254837,NP_006774|159032020,NP_001103689|158966714,NP_001103690
10804	34978349	Disease	p.Val37Glu	604418.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604418	ECTODERMAL DYSPLASIA, HIDROTIC	OMIM	37	pfam00029	158966717,NP_001103691|40254837,NP_006774|159032020,NP_001103689|158966714,NP_001103690
10804	34978349	Disease	p.Val37Glu	604418.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604418	ECTODERMAL DYSPLASIA, HIDROTIC	OMIM	37	pfam00029	158966717,NP_001103691|40254837,NP_006774|159032020,NP_001103689|158966714,NP_001103690
10804	34978349	Disease	p.Val37Glu	604418.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604418	ECTODERMAL DYSPLASIA, HIDROTIC	OMIM	37	pfam00029	158966717,NP_001103691|40254837,NP_006774|159032020,NP_001103689|158966714,NP_001103690
27030	91992162	Disease	p.Gln24Glu	604395.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604395	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	8	pfam02518	NULL
27030	91992162	Disease	p.Gln24Glu	604395.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604395	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	3	cd00075	NULL
27030	91992162	Disease	p.Gln24Glu	604395.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604395	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	31	COG0323	NULL
27030	91992160	Disease	p.Gln24Glu	604395.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604395	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	8	pfam02518	NULL
27030	91992160	Disease	p.Gln24Glu	604395.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604395	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	3	cd00075	NULL
27030	91992160	Disease	p.Gln24Glu	604395.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604395	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	31	COG0323	NULL
27030	91992162	Disease	p.Asn499Ser	604395.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604395	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	769	COG0323	NULL
27030	91992160	Disease	p.Asn499Ser	604395.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604395	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	769	COG0323	NULL
27030	91992162	Disease	p.Glu624Gln	604395.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604395	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	949	COG0323	NULL
27030	91992160	Disease	p.Glu624Gln	604395.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604395	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	949	COG0323	NULL
27030	91992162	Disease	p.Glu1451Lys	604395.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604395	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	NULL
27030	91992160	Disease	p.Glu1451Lys	604395.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604395	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	NULL
23746	74272280	Disease	p.Cys239Arg	604392.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604392	LEBER CONGENITAL AMAUROSIS 4	OMIM	No Domain	N/A	NULL
23746	74272278	Disease	p.Cys239Arg	604392.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604392	LEBER CONGENITAL AMAUROSIS 4	OMIM	No Domain	N/A	NULL
23746	23503042	Disease	p.Cys239Arg	604392.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604392	LEBER CONGENITAL AMAUROSIS 4	OMIM	71	cd00189	74272276,NP_055151
7227	90652851	Disease	p.Thr901Pro	604386.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604386	TRICHORHINOPHALANGEAL SYNDROME, TYPE III	OMIM	No Domain	N/A	NULL
7227	90652851	Disease	p.Arg908Gln	604386.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604386	TRICHORHINOPHALANGEAL SYNDROME, TYPE III	OMIM	5	smart00401	NULL
7227	90652851	Disease	p.Ala919Val	604386.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604386	TRICHORHINOPHALANGEAL SYNDROME, TYPE III	OMIM	16	cd00202	NULL
7227	90652851	Disease	p.Ala919Val	604386.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604386	TRICHORHINOPHALANGEAL SYNDROME, TYPE III	OMIM	19	smart00401	NULL
7227	90652851	Disease	p.Ala919Val	604386.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604386	TRICHORHINOPHALANGEAL SYNDROME, TYPE III	OMIM	15	pfam00320	NULL
7227	90652851	Disease	p.Arg952Cys	604386.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604386	TRICHORHINOPHALANGEAL SYNDROME, TYPE I	OMIM	56	cd00202	NULL
7227	90652851	Disease	p.Arg952Cys	604386.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604386	TRICHORHINOPHALANGEAL SYNDROME, TYPE I	OMIM	64	smart00401	NULL
7227	90652851	Disease	p.Arg952His	604386.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604386	TRICHORHINOPHALANGEAL SYNDROME, TYPE I	OMIM	56	cd00202	NULL
7227	90652851	Disease	p.Arg952His	604386.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604386	TRICHORHINOPHALANGEAL SYNDROME, TYPE I	OMIM	64	smart00401	NULL
27032	48762687	Disease	p.Ala304Thr	604384.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	575	COG0474	NULL
27032	48762687	Disease	p.Ala304Thr	604384.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	633	COG2217	NULL
27032	48762687	Disease	p.Ala304Thr	604384.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	537	pfam00122	NULL
27032	48762687	Disease	p.Ala304Thr	604384.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	269	COG2216	NULL
27032	68068024	Disease	p.Ala304Thr	604384.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	575	COG0474	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Ala304Thr	604384.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	633	COG2217	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Ala304Thr	604384.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	537	pfam00122	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Ala304Thr	604384.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	269	COG2216	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Ala304Thr	604384.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	575	COG0474	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Ala304Thr	604384.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	633	COG2217	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Ala304Thr	604384.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	537	pfam00122	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Ala304Thr	604384.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	269	COG2216	48762685,NP_055197|48762689,NP_001001486
27032	48762691	Disease	p.Ala304Thr	604384.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	575	COG0474	NULL
27032	48762691	Disease	p.Ala304Thr	604384.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	633	COG2217	NULL
27032	48762691	Disease	p.Ala304Thr	604384.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	537	pfam00122	NULL
27032	48762691	Disease	p.Ala304Thr	604384.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	269	COG2216	NULL
27032	48762687	Disease	p.Cys490Phe	604384.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	1050	COG0474	NULL
27032	48762687	Disease	p.Cys490Phe	604384.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	829	COG2217	NULL
27032	48762687	Disease	p.Cys490Phe	604384.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	184	pfam00702	NULL
27032	48762687	Disease	p.Cys490Phe	604384.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	464	COG2216	NULL
27032	68068024	Disease	p.Cys490Phe	604384.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	1050	COG0474	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Cys490Phe	604384.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	829	COG2217	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Cys490Phe	604384.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	184	pfam00702	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Cys490Phe	604384.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	464	COG2216	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Cys490Phe	604384.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	1050	COG0474	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Cys490Phe	604384.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	829	COG2217	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Cys490Phe	604384.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	184	pfam00702	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Cys490Phe	604384.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	464	COG2216	48762685,NP_055197|48762689,NP_001001486
27032	48762691	Disease	p.Cys490Phe	604384.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	1050	COG0474	NULL
27032	48762691	Disease	p.Cys490Phe	604384.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	829	COG2217	NULL
27032	48762691	Disease	p.Cys490Phe	604384.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	184	pfam00702	NULL
27032	48762691	Disease	p.Cys490Phe	604384.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	464	COG2216	NULL
27032	48762687	Disease	p.Leu584Pro	604384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	29	COG4087	NULL
27032	48762687	Disease	p.Leu584Pro	604384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	1255	COG0474	NULL
27032	48762687	Disease	p.Leu584Pro	604384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	941	COG2217	NULL
27032	48762687	Disease	p.Leu584Pro	604384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	367	pfam00702	NULL
27032	48762687	Disease	p.Leu584Pro	604384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	562	COG2216	NULL
27032	68068024	Disease	p.Leu584Pro	604384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	29	COG4087	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu584Pro	604384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	1255	COG0474	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu584Pro	604384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	941	COG2217	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu584Pro	604384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	367	pfam00702	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu584Pro	604384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	562	COG2216	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu584Pro	604384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	29	COG4087	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu584Pro	604384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	1255	COG0474	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu584Pro	604384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	941	COG2217	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu584Pro	604384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	367	pfam00702	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu584Pro	604384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	562	COG2216	48762685,NP_055197|48762689,NP_001001486
27032	48762691	Disease	p.Leu584Pro	604384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	29	COG4087	NULL
27032	48762691	Disease	p.Leu584Pro	604384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	1255	COG0474	NULL
27032	48762691	Disease	p.Leu584Pro	604384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	941	COG2217	NULL
27032	48762691	Disease	p.Leu584Pro	604384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	367	pfam00702	NULL
27032	48762691	Disease	p.Leu584Pro	604384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604384	HAILEY-HAILEY DISEASE	OMIM	562	COG2216	NULL
27019	12643888	Disease	p.Gly515Ser	604366.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604366	CILIARY DYSKINESIA, PRIMARY, 1	OMIM	832	COG2319	6912338,NP_036276
27019	12643888	Disease	p.Gly515Ser	604366.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604366	CILIARY DYSKINESIA, PRIMARY, 1	OMIM	573	cd00200	6912338,NP_036276
8842	224994195	Disease	p.Arg373Cys	604365.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604365	STARGARDT DISEASE 4||MACULAR DYSTROPHY, RETINAL, 2||CONE-ROD DYSTROPHY 12	OMIM	415	pfam05478	NULL
8842	224994197	Disease	p.Arg373Cys	604365.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604365	STARGARDT DISEASE 4||MACULAR DYSTROPHY, RETINAL, 2||CONE-ROD DYSTROPHY 12	OMIM	427	pfam05478	NULL
8842	13124442	Disease	p.Arg373Cys	604365.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604365	STARGARDT DISEASE 4||MACULAR DYSTROPHY, RETINAL, 2||CONE-ROD DYSTROPHY 12	OMIM	415	pfam05478	5174387,NP_006008
8842	224994189	Disease	p.Arg373Cys	604365.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604365	STARGARDT DISEASE 4||MACULAR DYSTROPHY, RETINAL, 2||CONE-ROD DYSTROPHY 12	OMIM	427	pfam05478	NULL
8842	224994193	Disease	p.Arg373Cys	604365.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604365	STARGARDT DISEASE 4||MACULAR DYSTROPHY, RETINAL, 2||CONE-ROD DYSTROPHY 12	OMIM	415	pfam05478	NULL
8842	224994199	Disease	p.Arg373Cys	604365.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604365	STARGARDT DISEASE 4||MACULAR DYSTROPHY, RETINAL, 2||CONE-ROD DYSTROPHY 12	OMIM	427	pfam05478	NULL
8842	224994191	Disease	p.Arg373Cys	604365.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604365	STARGARDT DISEASE 4||MACULAR DYSTROPHY, RETINAL, 2||CONE-ROD DYSTROPHY 12	OMIM	427	pfam05478	NULL
11285	13123990	Disease	p.Ala186Asp	604327.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604327	EHLERS-DANLOS SYNDROME, PROGEROID FORM	OMIM	126	cd00899	6005952,NP_009186
11285	13123990	Disease	p.Ala186Asp	604327.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604327	EHLERS-DANLOS SYNDROME, PROGEROID FORM	OMIM	150	pfam02709	6005952,NP_009186
11285	13123990	Disease	p.Leu206Pro	604327.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604327	EHLERS-DANLOS SYNDROME, PROGEROID FORM	OMIM	152	cd00899	6005952,NP_009186
11285	13123990	Disease	p.Leu206Pro	604327.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604327	EHLERS-DANLOS SYNDROME, PROGEROID FORM	OMIM	170	pfam02709	6005952,NP_009186
11285	13123990	Disease	p.Arg270Cys	604327.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604327	EHLERS-DANLOS SYNDROME, PROGEROID FORM	OMIM	267	cd00899	6005952,NP_009186
11285	13123990	Disease	p.Arg270Cys	604327.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604327	EHLERS-DANLOS SYNDROME, PROGEROID FORM	OMIM	237	pfam02709	6005952,NP_009186
26503	48428688	Disease	p.Arg39Cys	604322.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322	SALLA DISEASE	OMIM	22	COG2271	6912666,NP_036566
26503	48428688	Disease	p.Arg39Cys	604322.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322	SALLA DISEASE	OMIM	4	COG0477	6912666,NP_036566
26503	48428688	Disease	p.His183Arg	604322.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322	INFANTILE SIALIC ACID STORAGE DISORDER	OMIM	206	pfam00083	6912666,NP_036566
26503	48428688	Disease	p.His183Arg	604322.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322	INFANTILE SIALIC ACID STORAGE DISORDER	OMIM	146	COG2271	6912666,NP_036566
26503	48428688	Disease	p.His183Arg	604322.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322	INFANTILE SIALIC ACID STORAGE DISORDER	OMIM	249	pfam07690	6912666,NP_036566
26503	48428688	Disease	p.His183Arg	604322.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322	INFANTILE SIALIC ACID STORAGE DISORDER	OMIM	123	COG2814	6912666,NP_036566
26503	48428688	Disease	p.His183Arg	604322.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322	INFANTILE SIALIC ACID STORAGE DISORDER	OMIM	304	COG0477	6912666,NP_036566
26503	48428688	Disease	p.His183Arg	604322.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322	INFANTILE SIALIC ACID STORAGE DISORDER	OMIM	224	cd06174	6912666,NP_036566
26503	48428688	Disease	p.Pro334Arg	604322.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322	INFANTILE SIALIC ACID STORAGE DISORDER	OMIM	405	pfam00083	6912666,NP_036566
26503	48428688	Disease	p.Pro334Arg	604322.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322	INFANTILE SIALIC ACID STORAGE DISORDER	OMIM	343	COG2271	6912666,NP_036566
26503	48428688	Disease	p.Pro334Arg	604322.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322	INFANTILE SIALIC ACID STORAGE DISORDER	OMIM	573	pfam07690	6912666,NP_036566
26503	48428688	Disease	p.Pro334Arg	604322.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322	INFANTILE SIALIC ACID STORAGE DISORDER	OMIM	264	COG2814	6912666,NP_036566
26503	48428688	Disease	p.Pro334Arg	604322.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322	INFANTILE SIALIC ACID STORAGE DISORDER	OMIM	647	COG0477	6912666,NP_036566
26503	48428688	Disease	p.Pro334Arg	604322.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322	INFANTILE SIALIC ACID STORAGE DISORDER	OMIM	564	cd06174	6912666,NP_036566
26503	48428688	Disease	p.Lys136Glu	604322.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322	SALLA DISEASE	OMIM	141	pfam00083	6912666,NP_036566
26503	48428688	Disease	p.Lys136Glu	604322.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322	SALLA DISEASE	OMIM	96	COG2271	6912666,NP_036566
26503	48428688	Disease	p.Lys136Glu	604322.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322	SALLA DISEASE	OMIM	178	pfam07690	6912666,NP_036566
26503	48428688	Disease	p.Lys136Glu	604322.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322	SALLA DISEASE	OMIM	78	COG2814	6912666,NP_036566
26503	48428688	Disease	p.Lys136Glu	604322.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322	SALLA DISEASE	OMIM	156	COG0477	6912666,NP_036566
26503	48428688	Disease	p.Lys136Glu	604322.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604322	SALLA DISEASE	OMIM	128	cd06174	6912666,NP_036566
26277	151101235	Disease	p.Lys280Glu	604319.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604319	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
26277	21542262	Disease	p.Lys280Glu	604319.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604319	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	151101266,NP_001092744
26277	151101235	Disease	p.Arg282His	604319.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604319	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT||REVESZ SYNDROME	OMIM	No Domain	N/A	NULL
26277	21542262	Disease	p.Arg282His	604319.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604319	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT||REVESZ SYNDROME	OMIM	No Domain	N/A	151101266,NP_001092744
26277	151101235	Disease	p.Arg282Ser	604319.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604319	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
26277	21542262	Disease	p.Arg282Ser	604319.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604319	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	151101266,NP_001092744
26277	151101235	Disease	p.Arg282Cys	604319.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604319	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
26277	21542262	Disease	p.Arg282Cys	604319.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604319	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	151101266,NP_001092744
2584	1730187	Disease	p.Val32Met	604313.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604313	GALACTOKINASE DEFICIENCY	OMIM	28	COG0153	4503895,NP_000145
2584	1730187	Disease	p.Val32Met	604313.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604313	GALACTOKINASE DEFICIENCY	OMIM	3	COG1577	4503895,NP_000145
2584	1730187	Disease	p.Val32Met	604313.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604313	GALACTOKINASE DEFICIENCY	OMIM	33	pfam10509	4503895,NP_000145
2584	1730187	Disease	p.Pro28Thr	604313.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604313	GALACTOKINASE DEFICIENCY	OMIM	24	COG0153	4503895,NP_000145
2584	1730187	Disease	p.Pro28Thr	604313.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604313	GALACTOKINASE DEFICIENCY	OMIM	22	pfam10509	4503895,NP_000145
2584	1730187	Disease	p.Ala198Val	604313.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604313	GALACTOKINASE DEFICIENCY	OMIM	217	COG0153	4503895,NP_000145
2584	1730187	Disease	p.Ala198Val	604313.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604313	GALACTOKINASE DEFICIENCY	OMIM	213	COG1577	4503895,NP_000145
1471	118183	Disease	p.Leu68Gln	604312.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604312	AMYLOIDOSIS, CEREBROARTERIAL, ICELANDIC TYPE	OMIM	55	smart00043	4503107,NP_000090
1471	118183	Disease	p.Leu68Gln	604312.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604312	AMYLOIDOSIS, CEREBROARTERIAL, ICELANDIC TYPE	OMIM	35	pfam00031	4503107,NP_000090
1471	118183	Disease	p.Leu68Gln	604312.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604312	AMYLOIDOSIS, CEREBROARTERIAL, ICELANDIC TYPE	OMIM	37	cd00042	4503107,NP_000090
1471	118183	Disease	p.Ala25Thr	604312.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604312	MACULAR DEGENERATION, AGE-RELATED, 11	OMIM	No Domain	N/A	4503107,NP_000090
189	134855	Disease	p.Ser205Pro	604285.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	284	COG0520	4557289,NP_000021
189	134855	Disease	p.Ser205Pro	604285.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	223	cd06453	4557289,NP_000021
189	134855	Disease	p.Ser205Pro	604285.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	241	cd01494	4557289,NP_000021
189	134855	Disease	p.Ser205Pro	604285.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	194	cd06451	4557289,NP_000021
189	134855	Disease	p.Ser205Pro	604285.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	218	pfam00266	4557289,NP_000021
189	134855	Disease	p.Ser205Pro	604285.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	221	COG0075	4557289,NP_000021
189	134855	Disease	p.Pro11Leu	604285.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	18	COG0520	4557289,NP_000021
189	134855	Disease	p.Gly82Gln	604285.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	122	COG0520	4557289,NP_000021
189	134855	Disease	p.Gly82Gln	604285.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	20	cd06453	4557289,NP_000021
189	134855	Disease	p.Gly82Gln	604285.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	36	cd01494	4557289,NP_000021
189	134855	Disease	p.Gly82Gln	604285.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	62	cd06451	4557289,NP_000021
189	134855	Disease	p.Gly82Gln	604285.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	73	pfam00266	4557289,NP_000021
189	134855	Disease	p.Gly82Gln	604285.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	82	COG0075	4557289,NP_000021
189	134855	Disease	p.Gly41Arg	604285.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	80	COG0520	4557289,NP_000021
189	134855	Disease	p.Gly41Arg	604285.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	18	cd06451	4557289,NP_000021
189	134855	Disease	p.Gly41Arg	604285.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	19	pfam00266	4557289,NP_000021
189	134855	Disease	p.Gly41Arg	604285.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	31	COG0075	4557289,NP_000021
189	134855	Disease	p.Phe152Ile	604285.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	219	COG0520	4557289,NP_000021
189	134855	Disease	p.Phe152Ile	604285.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	163	cd06453	4557289,NP_000021
189	134855	Disease	p.Phe152Ile	604285.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	167	cd01494	4557289,NP_000021
189	134855	Disease	p.Phe152Ile	604285.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	139	cd06451	4557289,NP_000021
189	134855	Disease	p.Phe152Ile	604285.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	162	pfam00266	4557289,NP_000021
189	134855	Disease	p.Phe152Ile	604285.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	165	COG0075	4557289,NP_000021
189	134855	Disease	p.Ile244Thr	604285.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	331	COG0520	4557289,NP_000021
189	134855	Disease	p.Ile244Thr	604285.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	275_G	cd06453	4557289,NP_000021
189	134855	Disease	p.Ile244Thr	604285.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	234	cd06451	4557289,NP_000021
189	134855	Disease	p.Ile244Thr	604285.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	257	pfam00266	4557289,NP_000021
189	134855	Disease	p.Ile244Thr	604285.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	278	COG0075	4557289,NP_000021
189	134855	Disease	p.Arg233Cys	604285.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	320	COG0520	4557289,NP_000021
189	134855	Disease	p.Arg233Cys	604285.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	265	cd06453	4557289,NP_000021
189	134855	Disease	p.Arg233Cys	604285.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	222	cd06451	4557289,NP_000021
189	134855	Disease	p.Arg233Cys	604285.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	246	pfam00266	4557289,NP_000021
189	134855	Disease	p.Arg233Cys	604285.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	249	COG0075	4557289,NP_000021
189	134855	Disease	p.Arg233His	604285.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	320	COG0520	4557289,NP_000021
189	134855	Disease	p.Arg233His	604285.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	265	cd06453	4557289,NP_000021
189	134855	Disease	p.Arg233His	604285.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	222	cd06451	4557289,NP_000021
189	134855	Disease	p.Arg233His	604285.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	246	pfam00266	4557289,NP_000021
189	134855	Disease	p.Arg233His	604285.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	249	COG0075	4557289,NP_000021
189	134855	Disease	p.Gly158Arg	604285.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	225	COG0520	4557289,NP_000021
189	134855	Disease	p.Gly158Arg	604285.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	169	cd06453	4557289,NP_000021
189	134855	Disease	p.Gly158Arg	604285.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	173	cd01494	4557289,NP_000021
189	134855	Disease	p.Gly158Arg	604285.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	145	cd06451	4557289,NP_000021
189	134855	Disease	p.Gly158Arg	604285.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	168	pfam00266	4557289,NP_000021
189	134855	Disease	p.Gly158Arg	604285.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604285	HYPEROXALURIA, PRIMARY, TYPE I	OMIM	171	COG0075	4557289,NP_000021
6683	12230611	Disease	p.Ser362Cys	604277.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	282_G	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Ser362Cys	604277.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	219	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Ser362Cys	604277.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	454	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Ser362Cys	604277.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	18	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Ser362Cys	604277.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	148	COG1223	11875211,NP_055761
6683	40806170	Disease	p.Ser362Cys	604277.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	320	COG0465	NULL
6683	40806170	Disease	p.Ser362Cys	604277.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	24	smart00382	NULL
6683	40806170	Disease	p.Ser362Cys	604277.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	17	pfam00004	NULL
6683	40806170	Disease	p.Ser362Cys	604277.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	179	COG1223	NULL
6683	40806170	Disease	p.Ser362Cys	604277.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	102	cd00009	NULL
6683	40806170	Disease	p.Ser362Cys	604277.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	18	pfam07728	NULL
6683	40806170	Disease	p.Ser362Cys	604277.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	252	COG1222	NULL
6683	40806170	Disease	p.Ser362Cys	604277.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	505	COG0464	NULL
6683	12230611	Disease	p.Cys448Tyr	604277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	375	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Cys448Tyr	604277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	322	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Cys448Tyr	604277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	306	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Cys448Tyr	604277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	112	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Cys448Tyr	604277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	584	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Cys448Tyr	604277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	379	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Cys448Tyr	604277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	233	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Cys448Tyr	604277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	144	pfam00004	11875211,NP_055761
6683	40806170	Disease	p.Cys448Tyr	604277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	414	COG0465	NULL
6683	40806170	Disease	p.Cys448Tyr	604277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	605	smart00382	NULL
6683	40806170	Disease	p.Cys448Tyr	604277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	211	pfam00004	NULL
6683	40806170	Disease	p.Cys448Tyr	604277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	265	COG1223	NULL
6683	40806170	Disease	p.Cys448Tyr	604277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	448	cd00009	NULL
6683	40806170	Disease	p.Cys448Tyr	604277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	156	pfam07728	NULL
6683	40806170	Disease	p.Cys448Tyr	604277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	341	COG1222	NULL
6683	40806170	Disease	p.Cys448Tyr	604277.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	1063	COG0464	NULL
6683	12230611	Disease	p.Arg499Cys	604277.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	435	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Arg499Cys	604277.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	665	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Arg499Cys	604277.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	365	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Arg499Cys	604277.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	186	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Arg499Cys	604277.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	1103	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Arg499Cys	604277.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	512	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Arg499Cys	604277.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	284	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Arg499Cys	604277.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	235	pfam00004	11875211,NP_055761
6683	40806170	Disease	p.Arg499Cys	604277.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	468	COG0465	NULL
6683	40806170	Disease	p.Arg499Cys	604277.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	316	COG1223	NULL
6683	40806170	Disease	p.Arg499Cys	604277.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	391	COG1222	NULL
6683	40806170	Disease	p.Arg499Cys	604277.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	1159	COG0464	NULL
6683	12230611	Disease	p.Asp441Gly	604277.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	368	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Asp441Gly	604277.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	314	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Asp441Gly	604277.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	299	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Asp441Gly	604277.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	93	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Asp441Gly	604277.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	577	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Asp441Gly	604277.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	372	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Asp441Gly	604277.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	226	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Asp441Gly	604277.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	137	pfam00004	11875211,NP_055761
6683	40806170	Disease	p.Asp441Gly	604277.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	405	COG0465	NULL
6683	40806170	Disease	p.Asp441Gly	604277.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	582	smart00382	NULL
6683	40806170	Disease	p.Asp441Gly	604277.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	180	pfam00004	NULL
6683	40806170	Disease	p.Asp441Gly	604277.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	259	COG1223	NULL
6683	40806170	Disease	p.Asp441Gly	604277.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	411	cd00009	NULL
6683	40806170	Disease	p.Asp441Gly	604277.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	137	pfam07728	NULL
6683	40806170	Disease	p.Asp441Gly	604277.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	335	COG1222	NULL
6683	40806170	Disease	p.Asp441Gly	604277.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	1005	COG0464	NULL
6683	12230611	Disease	p.Ile344Lys	604277.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	266	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Ile344Lys	604277.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	201	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Ile344Lys	604277.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	432	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Ile344Lys	604277.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	132	COG1223	11875211,NP_055761
6683	40806170	Disease	p.Ile344Lys	604277.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	299	COG0465	NULL
6683	40806170	Disease	p.Ile344Lys	604277.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	3	smart00382	NULL
6683	40806170	Disease	p.Ile344Lys	604277.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	161	COG1223	NULL
6683	40806170	Disease	p.Ile344Lys	604277.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	84	cd00009	NULL
6683	40806170	Disease	p.Ile344Lys	604277.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	234	COG1222	NULL
6683	40806170	Disease	p.Ile344Lys	604277.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	480	COG0464	NULL
6683	12230611	Disease	p.Asn386Ser	604277.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	312	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Asn386Ser	604277.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	15	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Asn386Ser	604277.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	244	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Asn386Ser	604277.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	10	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Asn386Ser	604277.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	497	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Asn386Ser	604277.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	94	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Asn386Ser	604277.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	171	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Asn386Ser	604277.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	9	pfam00004	11875211,NP_055761
6683	40806170	Disease	p.Asn386Ser	604277.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	344	COG0465	NULL
6683	40806170	Disease	p.Asn386Ser	604277.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	249	smart00382	NULL
6683	40806170	Disease	p.Asn386Ser	604277.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	101	pfam00004	NULL
6683	40806170	Disease	p.Asn386Ser	604277.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	203	COG1223	NULL
6683	40806170	Disease	p.Asn386Ser	604277.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	188	cd00009	NULL
6683	40806170	Disease	p.Asn386Ser	604277.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	53	pfam07728	NULL
6683	40806170	Disease	p.Asn386Ser	604277.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	276	COG1222	NULL
6683	40806170	Disease	p.Asn386Ser	604277.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	546	COG0464	NULL
6683	12230611	Disease	p.Ser44Leu	604277.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4, MODIFIER OF	OMIM	No Domain	N/A	11875211,NP_055761
6683	40806170	Disease	p.Ser44Leu	604277.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4, MODIFIER OF	OMIM	No Domain	N/A	NULL
6683	12230611	Disease	p.Asp470Val	604277.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	402	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Asp470Val	604277.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	579	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Asp470Val	604277.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	332	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Asp470Val	604277.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	134	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Asp470Val	604277.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	1002	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Asp470Val	604277.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	408	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Asp470Val	604277.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	256	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Asp470Val	604277.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	177	pfam00004	11875211,NP_055761
6683	40806170	Disease	p.Asp470Val	604277.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	438	COG0465	NULL
6683	40806170	Disease	p.Asp470Val	604277.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	668	smart00382	NULL
6683	40806170	Disease	p.Asp470Val	604277.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	238	pfam00004	NULL
6683	40806170	Disease	p.Asp470Val	604277.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	287	COG1223	NULL
6683	40806170	Disease	p.Asp470Val	604277.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	518	cd00009	NULL
6683	40806170	Disease	p.Asp470Val	604277.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	368	COG1222	NULL
6683	40806170	Disease	p.Asp470Val	604277.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	1106	COG0464	NULL
6683	12230611	Disease	p.Pro45Gln	604277.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4, MODIFIER OF	OMIM	No Domain	N/A	11875211,NP_055761
6683	40806170	Disease	p.Pro45Gln	604277.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4, MODIFIER OF	OMIM	No Domain	N/A	NULL
6683	12230611	Disease	p.Arg562Gly	604277.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	571	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Arg562Gly	604277.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	425	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Arg562Gly	604277.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	1210	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Arg562Gly	604277.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	348	COG1223	11875211,NP_055761
6683	40806170	Disease	p.Arg562Gly	604277.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	695	COG0465	NULL
6683	40806170	Disease	p.Arg562Gly	604277.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	368	COG1223	NULL
6683	40806170	Disease	p.Arg562Gly	604277.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	445	COG1222	NULL
6683	40806170	Disease	p.Arg562Gly	604277.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	1407	COG0464	NULL
6683	12230611	Disease	p.Ser445Arg	604277.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	372	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Ser445Arg	604277.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	319	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Ser445Arg	604277.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	303	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Ser445Arg	604277.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	109	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Ser445Arg	604277.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	581	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Ser445Arg	604277.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	376	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Ser445Arg	604277.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	230	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Ser445Arg	604277.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	141	pfam00004	11875211,NP_055761
6683	40806170	Disease	p.Ser445Arg	604277.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	409	COG0465	NULL
6683	40806170	Disease	p.Ser445Arg	604277.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	596	smart00382	NULL
6683	40806170	Disease	p.Ser445Arg	604277.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	208	pfam00004	NULL
6683	40806170	Disease	p.Ser445Arg	604277.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	262	COG1223	NULL
6683	40806170	Disease	p.Ser445Arg	604277.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	415	cd00009	NULL
6683	40806170	Disease	p.Ser445Arg	604277.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	141	pfam07728	NULL
6683	40806170	Disease	p.Ser445Arg	604277.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	340	COG1222	NULL
6683	40806170	Disease	p.Ser445Arg	604277.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604277	SPASTIC PARAPLEGIA 4	OMIM	1009	COG0464	NULL
9997	8134662	Disease	p.Glu140Lys	604272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	61	pfam02630	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Glu140Lys	604272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	104	COG1999	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Glu140Lys	604272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	49	cd02968	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Glu140Lys	604272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	61	pfam02630	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Glu140Lys	604272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	104	COG1999	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Glu140Lys	604272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	49	cd02968	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Glu140Lys	604272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	61	pfam02630	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Glu140Lys	604272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	104	COG1999	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Glu140Lys	604272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	49	cd02968	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Glu140Lys	604272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	61	pfam02630	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Glu140Lys	604272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	104	COG1999	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Glu140Lys	604272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	49	cd02968	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Ser225Phe	604272.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	146	pfam02630	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Ser225Phe	604272.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	230	COG1999	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Ser225Phe	604272.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	198	cd02968	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Ser225Phe	604272.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	146	pfam02630	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Ser225Phe	604272.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	230	COG1999	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Ser225Phe	604272.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	198	cd02968	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Ser225Phe	604272.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	146	pfam02630	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Ser225Phe	604272.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	230	COG1999	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Ser225Phe	604272.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	198	cd02968	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Ser225Phe	604272.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	146	pfam02630	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Ser225Phe	604272.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	230	COG1999	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Ser225Phe	604272.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	198	cd02968	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Arg171Trp	604272.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	91	pfam02630	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Arg171Trp	604272.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	135	COG1999	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Arg171Trp	604272.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	98	cd02968	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Arg171Trp	604272.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	91	pfam02630	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Arg171Trp	604272.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	135	COG1999	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Arg171Trp	604272.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	98	cd02968	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Arg171Trp	604272.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	91	pfam02630	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Arg171Trp	604272.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	135	COG1999	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Arg171Trp	604272.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	98	cd02968	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Arg171Trp	604272.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	91	pfam02630	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Arg171Trp	604272.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	135	COG1999	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Arg171Trp	604272.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	98	cd02968	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Cys133Tyr	604272.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	54	pfam02630	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Cys133Tyr	604272.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	95	COG1999	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Cys133Tyr	604272.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	40	cd02968	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Cys133Tyr	604272.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	54	pfam02630	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Cys133Tyr	604272.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	95	COG1999	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Cys133Tyr	604272.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	40	cd02968	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Cys133Tyr	604272.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	54	pfam02630	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Cys133Tyr	604272.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	95	COG1999	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Cys133Tyr	604272.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	40	cd02968	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Cys133Tyr	604272.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	54	pfam02630	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Cys133Tyr	604272.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	95	COG1999	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Cys133Tyr	604272.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604272	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	40	cd02968	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
4038	269849756	Disease	p.Asp529Asn	604270.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604270	CENANI-LENZ SYNDACTYLY SYNDROME	OMIM	31	smart00135	157384998,NP_002325
4038	269849756	Disease	p.Asp529Asn	604270.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604270	CENANI-LENZ SYNDACTYLY SYNDROME	OMIM	7	pfam00058	157384998,NP_002325
4038	269849756	Disease	p.Asp137Asn	604270.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604270	CENANI-LENZ SYNDACTYLY SYNDROME	OMIM	51	pfam00057	157384998,NP_002325
4038	269849756	Disease	p.Asp137Asn	604270.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604270	CENANI-LENZ SYNDACTYLY SYNDROME	OMIM	57	smart00192	157384998,NP_002325
4038	269849756	Disease	p.Cys160Tyr	604270.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604270	CENANI-LENZ SYNDACTYLY SYNDROME	OMIM	30	smart00192	157384998,NP_002325
4038	269849756	Disease	p.Cys160Tyr	604270.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604270	CENANI-LENZ SYNDACTYLY SYNDROME	OMIM	27	pfam00057	157384998,NP_002325
4038	269849756	Disease	p.Asp449Asn	604270.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604270	CENANI-LENZ SYNDACTYLY SYNDROME	OMIM	No Domain	N/A	157384998,NP_002325
4038	269849756	Disease	p.Thr461Pro	604270.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604270	CENANI-LENZ SYNDACTYLY SYNDROME	OMIM	2	smart00135	157384998,NP_002325
6777	41019536	Disease	p.Ala630Pro	604260.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604260	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY	OMIM	61	cd00173	21618344,NP_036580
6777	41019536	Disease	p.Ala630Pro	604260.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604260	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY	OMIM	53	pfam00017	21618344,NP_036580
6777	41019536	Disease	p.Ala630Pro	604260.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604260	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY	OMIM	133	smart00252	21618344,NP_036580
9244	44887813	Disease	p.Arg81His	604237.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604237	COLD-INDUCED SWEATING SYNDROME 1	OMIM	No Domain	N/A	4758062,NP_004741
9244	44887813	Disease	p.Trp76Gly	604237.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604237	CRISPONI SYNDROME	OMIM	No Domain	N/A	4758062,NP_004741
10568	295789158	Disease	p.Gly106Arg	604217.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604217	PULMONARY ALVEOLAR MICROLITHIASIS	OMIM	13	COG1283	NULL
10568	295789160	Disease	p.Gly106Arg	604217.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604217	PULMONARY ALVEOLAR MICROLITHIASIS	OMIM	13	COG1283	NULL
10568	84029372	Disease	p.Gly106Arg	604217.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604217	PULMONARY ALVEOLAR MICROLITHIASIS	OMIM	No Domain	N/A	110611906,NP_006415
889	61742817	Disease	p.Asp137Gly	604214.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604214	CEREBRAL CAVERNOUS MALFORMATIONS 1	OMIM	No Domain	N/A	NULL
889	77432385	Disease	p.Asp137Gly	604214.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604214	CEREBRAL CAVERNOUS MALFORMATIONS 1	OMIM	No Domain	N/A	37221182,NP_919437|37221187,NP_919436|31581522,NP_004903|37221184,NP_919438
889	77432385	Disease	p.Asp137Gly	604214.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604214	CEREBRAL CAVERNOUS MALFORMATIONS 1	OMIM	No Domain	N/A	37221182,NP_919437|37221187,NP_919436|31581522,NP_004903|37221184,NP_919438
889	77432385	Disease	p.Asp137Gly	604214.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604214	CEREBRAL CAVERNOUS MALFORMATIONS 1	OMIM	No Domain	N/A	37221182,NP_919437|37221187,NP_919436|31581522,NP_004903|37221184,NP_919438
889	77432385	Disease	p.Asp137Gly	604214.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604214	CEREBRAL CAVERNOUS MALFORMATIONS 1	OMIM	No Domain	N/A	37221182,NP_919437|37221187,NP_919436|31581522,NP_004903|37221184,NP_919438
889	61742817	Disease	p.Gln201Glu	604214.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604214	CEREBRAL CAVERNOUS MALFORMATIONS 1	OMIM	No Domain	N/A	NULL
889	77432385	Disease	p.Gln201Glu	604214.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604214	CEREBRAL CAVERNOUS MALFORMATIONS 1	OMIM	No Domain	N/A	37221182,NP_919437|37221187,NP_919436|31581522,NP_004903|37221184,NP_919438
889	77432385	Disease	p.Gln201Glu	604214.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604214	CEREBRAL CAVERNOUS MALFORMATIONS 1	OMIM	No Domain	N/A	37221182,NP_919437|37221187,NP_919436|31581522,NP_004903|37221184,NP_919438
889	77432385	Disease	p.Gln201Glu	604214.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604214	CEREBRAL CAVERNOUS MALFORMATIONS 1	OMIM	No Domain	N/A	37221182,NP_919437|37221187,NP_919436|31581522,NP_004903|37221184,NP_919438
889	77432385	Disease	p.Gln201Glu	604214.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604214	CEREBRAL CAVERNOUS MALFORMATIONS 1	OMIM	No Domain	N/A	37221182,NP_919437|37221187,NP_919436|31581522,NP_004903|37221184,NP_919438
23418	71153499	Disease	p.Met1041Thr	604210.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	79	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Met1041Thr	604210.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	116	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Met1041Thr	604210.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	220	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Met1041Thr	604210.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	145	cd00110	41327708,NP_957705
23418	302370926	Disease	p.Met1041Thr	604210.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	27	cd00053	NULL
23418	302370926	Disease	p.Met1041Thr	604210.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	26	smart00181	NULL
23418	302370926	Disease	p.Met1041Thr	604210.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	17	pfam00008	NULL
23418	302370926	Disease	p.Met1041Thr	604210.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	35	cd00054	NULL
23418	302370926	Disease	p.Met1041Thr	604210.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	33	smart00179	NULL
23418	71153499	Disease	p.Arg764Cys	604210.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	44	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Arg764Cys	604210.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	35	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Arg764Cys	604210.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	82	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Arg764Cys	604210.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	111	smart00282	41327708,NP_957705
23418	302370926	Disease	p.Arg764Cys	604210.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	No Domain	N/A	NULL
23418	71153499	Disease	p.Thr745Met	604210.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	3	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Thr745Met	604210.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	3	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Thr745Met	604210.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	42	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Thr745Met	604210.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	21	smart00282	41327708,NP_957705
23418	302370926	Disease	p.Thr745Met	604210.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	294	cd00110	NULL
23418	302370926	Disease	p.Thr745Met	604210.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	587	smart00282	NULL
23418	302370926	Disease	p.Thr745Met	604210.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	243	pfam02210	NULL
23418	302370926	Disease	p.Thr745Met	604210.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	175	pfam00054	NULL
23418	71153499	Disease	p.Ile1100Arg	604210.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	LEBER CONGENITAL AMAUROSIS 8	OMIM	173	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Ile1100Arg	604210.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	LEBER CONGENITAL AMAUROSIS 8	OMIM	241	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Ile1100Arg	604210.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	LEBER CONGENITAL AMAUROSIS 8	OMIM	584	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Ile1100Arg	604210.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	LEBER CONGENITAL AMAUROSIS 8	OMIM	292	cd00110	41327708,NP_957705
23418	302370926	Disease	p.Ile1100Arg	604210.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	LEBER CONGENITAL AMAUROSIS 8	OMIM	No Domain	N/A	NULL
23418	71153499	Disease	p.Cys1181Arg	604210.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	2	smart00181	41327708,NP_957705
23418	71153499	Disease	p.Cys1181Arg	604210.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	2	cd00053	41327708,NP_957705
23418	71153499	Disease	p.Cys1181Arg	604210.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	5	smart00179	41327708,NP_957705
23418	71153499	Disease	p.Cys1181Arg	604210.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	5	cd00054	41327708,NP_957705
23418	302370926	Disease	p.Cys1181Arg	604210.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	RETINITIS PIGMENTOSA 12	OMIM	No Domain	N/A	NULL
23418	71153499	Disease	p.Val162Met	604210.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY	OMIM	26	smart00181	41327708,NP_957705
23418	71153499	Disease	p.Val162Met	604210.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY	OMIM	27	cd00053	41327708,NP_957705
23418	71153499	Disease	p.Val162Met	604210.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY	OMIM	33	smart00179	41327708,NP_957705
23418	71153499	Disease	p.Val162Met	604210.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY	OMIM	35	cd00054	41327708,NP_957705
23418	71153499	Disease	p.Val162Met	604210.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY	OMIM	17	pfam00008	41327708,NP_957705
23418	302370926	Disease	p.Val162Met	604210.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY	OMIM	26	smart00181	NULL
23418	302370926	Disease	p.Val162Met	604210.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY	OMIM	27	cd00053	NULL
23418	302370926	Disease	p.Val162Met	604210.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY	OMIM	33	smart00179	NULL
23418	302370926	Disease	p.Val162Met	604210.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY	OMIM	35	cd00054	NULL
23418	302370926	Disease	p.Val162Met	604210.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY	OMIM	17	pfam00008	NULL
23418	71153499	Disease	p.Gly1103Arg	604210.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	LEBER CONGENITAL AMAUROSIS 8||RETINITIS PIGMENTOSA 12	OMIM	176	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Gly1103Arg	604210.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	LEBER CONGENITAL AMAUROSIS 8||RETINITIS PIGMENTOSA 12	OMIM	244	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Gly1103Arg	604210.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	LEBER CONGENITAL AMAUROSIS 8||RETINITIS PIGMENTOSA 12	OMIM	588	smart00282	41327708,NP_957705
23418	302370926	Disease	p.Gly1103Arg	604210.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	LEBER CONGENITAL AMAUROSIS 8||RETINITIS PIGMENTOSA 12	OMIM	2	cd00054	NULL
23418	302370926	Disease	p.Gly1103Arg	604210.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604210	LEBER CONGENITAL AMAUROSIS 8||RETINITIS PIGMENTOSA 12	OMIM	2	smart00179	NULL
10999	74749065	Disease	p.Ala92Thr	604194.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604194	ICHTHYOSIS PREMATURITY SYNDROME	OMIM	38	COG1022	40807357,NP_005085
10999	74749065	Disease	p.Ala92Thr	604194.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604194	ICHTHYOSIS PREMATURITY SYNDROME	OMIM	35	COG0365	40807357,NP_005085
10999	74749065	Disease	p.Ala92Thr	604194.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604194	ICHTHYOSIS PREMATURITY SYNDROME	OMIM	29	COG0318	40807357,NP_005085
10999	74749065	Disease	p.Ser247Pro	604194.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604194	ICHTHYOSIS PREMATURITY SYNDROME	OMIM	228	COG1022	40807357,NP_005085
10999	74749065	Disease	p.Ser247Pro	604194.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604194	ICHTHYOSIS PREMATURITY SYNDROME	OMIM	242	pfam00501	40807357,NP_005085
10999	74749065	Disease	p.Ser247Pro	604194.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604194	ICHTHYOSIS PREMATURITY SYNDROME	OMIM	228	COG0365	40807357,NP_005085
10999	74749065	Disease	p.Ser247Pro	604194.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604194	ICHTHYOSIS PREMATURITY SYNDROME	OMIM	328	COG0318	40807357,NP_005085
10999	74749065	Disease	p.Gln300Arg	604194.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604194	ICHTHYOSIS PREMATURITY SYNDROME	OMIM	296	COG1022	40807357,NP_005085
10999	74749065	Disease	p.Gln300Arg	604194.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604194	ICHTHYOSIS PREMATURITY SYNDROME	OMIM	318	pfam00501	40807357,NP_005085
10999	74749065	Disease	p.Gln300Arg	604194.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604194	ICHTHYOSIS PREMATURITY SYNDROME	OMIM	287	COG0365	40807357,NP_005085
10999	74749065	Disease	p.Gln300Arg	604194.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604194	ICHTHYOSIS PREMATURITY SYNDROME	OMIM	453	COG0318	40807357,NP_005085
10999	74749065	Disease	p.Arg583His	604194.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604194	ICHTHYOSIS PREMATURITY SYNDROME	OMIM	677	COG1022	40807357,NP_005085
10999	74749065	Disease	p.Arg583His	604194.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604194	ICHTHYOSIS PREMATURITY SYNDROME	OMIM	623	COG0365	40807357,NP_005085
10999	74749065	Disease	p.Arg583His	604194.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604194	ICHTHYOSIS PREMATURITY SYNDROME	OMIM	1459	COG0318	40807357,NP_005085
6583	146345508	Disease	p.Leu503Phe	604190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604190	SLC22A4 POLYMORPHISM	OMIM	848	COG0477	24497490,NP_003050
6583	146345508	Disease	p.Leu503Phe	604190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604190	SLC22A4 POLYMORPHISM	OMIM	908	cd06174	24497490,NP_003050
6583	146345508	Disease	p.Leu503Phe	604190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604190	SLC22A4 POLYMORPHISM	OMIM	586	pfam00083	24497490,NP_003050
84634	125987836	Disease	p.Leu148Ser	604161.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604161	HYPOGONADOTROPIC HYPOGONADISM	OMIM	100	pfam00001	62865887,NP_115940
84634	125987836	Disease	p.Leu102Pro	604161.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604161	HYPOGONADOTROPIC HYPOGONADISM	OMIM	42	pfam00001	62865887,NP_115940
84634	125987836	Disease	p.Arg386Pro	604161.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604161	PRECOCIOUS PUBERTY, CENTRAL	OMIM	No Domain	N/A	62865887,NP_115940
6530	128616	Disease	p.Tyr491Cys	604159.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	476	COG0733	289191351,NP_001165972|4557046,NP_001034
6530	128616	Disease	p.Tyr491Cys	604159.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	531	pfam00209	289191351,NP_001165972|4557046,NP_001034
6530	289191353	Disease	p.Tyr491Cys	604159.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	No Domain	N/A	NULL
6530	289191377	Disease	p.Tyr491Cys	604159.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	476	COG0733	NULL
6530	289191377	Disease	p.Tyr491Cys	604159.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	531	pfam00209	NULL
6530	128616	Disease	p.Tyr491Cys	604159.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	476	COG0733	289191351,NP_001165972|4557046,NP_001034
6530	128616	Disease	p.Tyr491Cys	604159.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	531	pfam00209	289191351,NP_001165972|4557046,NP_001034
6530	128616	Disease	p.Leu306Val	604159.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	261	COG0733	289191351,NP_001165972|4557046,NP_001034
6530	128616	Disease	p.Leu306Val	604159.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	277	pfam00209	289191351,NP_001165972|4557046,NP_001034
6530	289191353	Disease	p.Leu306Val	604159.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	446	pfam00209	NULL
6530	289191353	Disease	p.Leu306Val	604159.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	387	COG0733	NULL
6530	289191377	Disease	p.Leu306Val	604159.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	261	COG0733	NULL
6530	289191377	Disease	p.Leu306Val	604159.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	277	pfam00209	NULL
6530	128616	Disease	p.Leu306Val	604159.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	261	COG0733	289191351,NP_001165972|4557046,NP_001034
6530	128616	Disease	p.Leu306Val	604159.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	277	pfam00209	289191351,NP_001165972|4557046,NP_001034
6530	128616	Disease	p.Asn509Ser	604159.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	499	COG0733	289191351,NP_001165972|4557046,NP_001034
6530	128616	Disease	p.Asn509Ser	604159.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	549	pfam00209	289191351,NP_001165972|4557046,NP_001034
6530	289191353	Disease	p.Asn509Ser	604159.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	No Domain	N/A	NULL
6530	289191377	Disease	p.Asn509Ser	604159.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	499	COG0733	NULL
6530	289191377	Disease	p.Asn509Ser	604159.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	549	pfam00209	NULL
6530	128616	Disease	p.Asn509Ser	604159.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	499	COG0733	289191351,NP_001165972|4557046,NP_001034
6530	128616	Disease	p.Asn509Ser	604159.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	549	pfam00209	289191351,NP_001165972|4557046,NP_001034
6530	128616	Disease	p.Thr425Met	604159.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	401	COG0733	289191351,NP_001165972|4557046,NP_001034
6530	128616	Disease	p.Thr425Met	604159.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	460	pfam00209	289191351,NP_001165972|4557046,NP_001034
6530	289191353	Disease	p.Thr425Met	604159.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	570	pfam00209	NULL
6530	289191353	Disease	p.Thr425Met	604159.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	521	COG0733	NULL
6530	289191377	Disease	p.Thr425Met	604159.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	401	COG0733	NULL
6530	289191377	Disease	p.Thr425Met	604159.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	460	pfam00209	NULL
6530	128616	Disease	p.Thr425Met	604159.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	401	COG0733	289191351,NP_001165972|4557046,NP_001034
6530	128616	Disease	p.Thr425Met	604159.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604159	HYPEREKPLEXIA	OMIM	460	pfam00209	289191351,NP_001165972|4557046,NP_001034
8910	150378454	Disease	p.Leu196Arg	604149.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604149	MYOCLONUS-DYSTONIA SYNDROME	OMIM	186	pfam05510	NULL
8910	150378535	Disease	p.Leu196Arg	604149.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604149	MYOCLONUS-DYSTONIA SYNDROME	OMIM	186	pfam05510	NULL
8910	251757514	Disease	p.Leu196Arg	604149.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604149	MYOCLONUS-DYSTONIA SYNDROME	OMIM	186	pfam05510	10835047,NP_003910
11136	12585187	Disease	p.Val170Met	604144.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	240	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Val170Met	604144.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	168	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Val170Met	604144.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	154	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Val170Met	604144.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	354	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Val170Met	604144.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	240	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Val170Met	604144.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	168	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Val170Met	604144.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	154	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Val170Met	604144.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	354	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly105Arg	604144.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	162_G	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly105Arg	604144.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	81	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly105Arg	604144.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	90	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly105Arg	604144.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	117	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly105Arg	604144.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	162_G	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly105Arg	604144.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	81	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly105Arg	604144.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	90	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly105Arg	604144.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	117	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala182Thr	604144.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	258	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala182Thr	604144.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	182	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala182Thr	604144.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	166	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala182Thr	604144.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	384	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala182Thr	604144.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	258	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala182Thr	604144.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	182	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala182Thr	604144.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	166	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala182Thr	604144.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	384	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly195Arg	604144.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	271	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly195Arg	604144.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	195	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly195Arg	604144.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	179	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly195Arg	604144.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	397	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly195Arg	604144.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	271	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly195Arg	604144.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	195	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly195Arg	604144.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	179	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly195Arg	604144.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	397	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly259Arg	604144.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	374	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly259Arg	604144.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	292	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly259Arg	604144.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	268	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly259Arg	604144.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	529	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly259Arg	604144.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	374	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly259Arg	604144.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	292	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly259Arg	604144.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	268	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly259Arg	604144.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	529	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Arg333Trp	604144.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	493	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Arg333Trp	604144.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	419	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Arg333Trp	604144.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	353	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Arg333Trp	604144.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	704	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Arg333Trp	604144.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	493	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Arg333Trp	604144.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	419	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Arg333Trp	604144.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	353	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Arg333Trp	604144.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	704	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ile44Thr	604144.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	99	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ile44Thr	604144.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	11	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ile44Thr	604144.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	29	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ile44Thr	604144.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	29	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ile44Thr	604144.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	99	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ile44Thr	604144.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	11	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ile44Thr	604144.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	29	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ile44Thr	604144.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	29	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Pro261Leu	604144.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	376	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Pro261Leu	604144.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	294	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Pro261Leu	604144.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	270	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Pro261Leu	604144.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	545	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Pro261Leu	604144.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	376	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Pro261Leu	604144.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	294	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Pro261Leu	604144.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	270	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Pro261Leu	604144.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	545	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Tyr232Cys	604144.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	340	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Tyr232Cys	604144.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	264	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Tyr232Cys	604144.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	238	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Tyr232Cys	604144.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	482	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Tyr232Cys	604144.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	340	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Tyr232Cys	604144.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	264	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Tyr232Cys	604144.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	238	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Tyr232Cys	604144.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	482	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Thr123Met	604144.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	186	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Thr123Met	604144.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	109	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Thr123Met	604144.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	102_G	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Thr123Met	604144.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	205	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Thr123Met	604144.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	186	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Thr123Met	604144.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	109	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Thr123Met	604144.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	102_G	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Thr123Met	604144.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604144	CYSTINURIA	OMIM	205	COG0531	187423910,NP_001119807|7657591,NP_055085
7305	38158005	Disease	p.Met1Thr	604142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604142	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY	OMIM	No Domain	N/A	NULL
7305	7531221	Disease	p.Met1Thr	604142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604142	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY	OMIM	No Domain	N/A	4507755,NP_003323
7305	291045272	Disease	p.Met1Thr	604142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604142	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY	OMIM	No Domain	N/A	NULL
7305	291045274	Disease	p.Met1Thr	604142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604142	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY	OMIM	No Domain	N/A	NULL
11093	21265043	Disease	p.His96Asp	604134.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	30	cd00203	NULL
11093	21265043	Disease	p.His96Asp	604134.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	28	cd04269	NULL
11093	21265043	Disease	p.His96Asp	604134.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	25	cd04273	NULL
11093	21265043	Disease	p.His96Asp	604134.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	17	cd04272	NULL
11093	21265043	Disease	p.His96Asp	604134.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	21	cd04267	NULL
11093	21265043	Disease	p.His96Asp	604134.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	17	pfam01421	NULL
11093	74749836	Disease	p.His96Asp	604134.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	30	cd00203	21265034,NP_620594
11093	74749836	Disease	p.His96Asp	604134.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	17	pfam01421	21265034,NP_620594
11093	74749836	Disease	p.His96Asp	604134.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	17	cd04272	21265034,NP_620594
11093	74749836	Disease	p.His96Asp	604134.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	25	cd04273	21265034,NP_620594
11093	74749836	Disease	p.His96Asp	604134.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	28	cd04269	21265034,NP_620594
11093	74749836	Disease	p.His96Asp	604134.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	21	cd04267	21265034,NP_620594
11093	73695936	Disease	p.His96Asp	604134.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	30	cd00203	NULL
11093	73695936	Disease	p.His96Asp	604134.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	17	pfam01421	NULL
11093	73695936	Disease	p.His96Asp	604134.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	17	cd04272	NULL
11093	73695936	Disease	p.His96Asp	604134.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	25	cd04273	NULL
11093	73695936	Disease	p.His96Asp	604134.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	28	cd04269	NULL
11093	73695936	Disease	p.His96Asp	604134.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	21	cd04267	NULL
11093	21265043	Disease	p.Cys951Gly	604134.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	NULL
11093	74749836	Disease	p.Cys951Gly	604134.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	21265034,NP_620594
11093	73695936	Disease	p.Cys951Gly	604134.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	NULL
11093	21265043	Disease	p.Arg102Cys	604134.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	36	cd00203	NULL
11093	21265043	Disease	p.Arg102Cys	604134.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	34	cd04269	NULL
11093	21265043	Disease	p.Arg102Cys	604134.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	31	cd04273	NULL
11093	21265043	Disease	p.Arg102Cys	604134.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	23	cd04272	NULL
11093	21265043	Disease	p.Arg102Cys	604134.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	27	cd04267	NULL
11093	21265043	Disease	p.Arg102Cys	604134.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	26	pfam01421	NULL
11093	74749836	Disease	p.Arg102Cys	604134.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	36	cd00203	21265034,NP_620594
11093	74749836	Disease	p.Arg102Cys	604134.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	26	pfam01421	21265034,NP_620594
11093	74749836	Disease	p.Arg102Cys	604134.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	23	cd04272	21265034,NP_620594
11093	74749836	Disease	p.Arg102Cys	604134.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	31	cd04273	21265034,NP_620594
11093	74749836	Disease	p.Arg102Cys	604134.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	34	cd04269	21265034,NP_620594
11093	74749836	Disease	p.Arg102Cys	604134.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	27	cd04267	21265034,NP_620594
11093	73695936	Disease	p.Arg102Cys	604134.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	36	cd00203	NULL
11093	73695936	Disease	p.Arg102Cys	604134.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	26	pfam01421	NULL
11093	73695936	Disease	p.Arg102Cys	604134.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	23	cd04272	NULL
11093	73695936	Disease	p.Arg102Cys	604134.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	31	cd04273	NULL
11093	73695936	Disease	p.Arg102Cys	604134.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	34	cd04269	NULL
11093	73695936	Disease	p.Arg102Cys	604134.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	27	cd04267	NULL
11093	21265043	Disease	p.Thr196Ile	604134.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	156	cd00203	NULL
11093	21265043	Disease	p.Thr196Ile	604134.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	143	cd04269	NULL
11093	21265043	Disease	p.Thr196Ile	604134.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	145	cd04273	NULL
11093	21265043	Disease	p.Thr196Ile	604134.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	133	cd04272	NULL
11093	21265043	Disease	p.Thr196Ile	604134.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	166	cd04267	NULL
11093	21265043	Disease	p.Thr196Ile	604134.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	107	pfam01421	NULL
11093	74749836	Disease	p.Thr196Ile	604134.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	156	cd00203	21265034,NP_620594
11093	74749836	Disease	p.Thr196Ile	604134.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	107	pfam01421	21265034,NP_620594
11093	74749836	Disease	p.Thr196Ile	604134.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	133	cd04272	21265034,NP_620594
11093	74749836	Disease	p.Thr196Ile	604134.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	145	cd04273	21265034,NP_620594
11093	74749836	Disease	p.Thr196Ile	604134.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	143	cd04269	21265034,NP_620594
11093	74749836	Disease	p.Thr196Ile	604134.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	166	cd04267	21265034,NP_620594
11093	73695936	Disease	p.Thr196Ile	604134.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	156	cd00203	NULL
11093	73695936	Disease	p.Thr196Ile	604134.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	107	pfam01421	NULL
11093	73695936	Disease	p.Thr196Ile	604134.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	133	cd04272	NULL
11093	73695936	Disease	p.Thr196Ile	604134.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	145	cd04273	NULL
11093	73695936	Disease	p.Thr196Ile	604134.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	143	cd04269	NULL
11093	73695936	Disease	p.Thr196Ile	604134.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	166	cd04267	NULL
11093	21265043	Disease	p.Arg398His	604134.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	74	smart00209	NULL
11093	21265043	Disease	p.Arg398His	604134.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	44	pfam00090	NULL
11093	74749836	Disease	p.Arg398His	604134.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	18	smart00209	21265034,NP_620594
11093	74749836	Disease	p.Arg398His	604134.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	11	pfam00090	21265034,NP_620594
11093	73695936	Disease	p.Arg398His	604134.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	18	smart00209	NULL
11093	73695936	Disease	p.Arg398His	604134.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	11	pfam00090	NULL
11093	21265043	Disease	p.Cys1024Gly	604134.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	NULL
11093	74749836	Disease	p.Cys1024Gly	604134.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	21265034,NP_620594
11093	73695936	Disease	p.Cys1024Gly	604134.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	NULL
11093	21265043	Disease	p.Arg528Gly	604134.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	NULL
11093	74749836	Disease	p.Arg528Gly	604134.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	21265034,NP_620594
11093	73695936	Disease	p.Arg528Gly	604134.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	NULL
11093	21265043	Disease	p.Cys1213Tyr	604134.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	NULL
11093	74749836	Disease	p.Cys1213Tyr	604134.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	21265034,NP_620594
11093	73695936	Disease	p.Cys1213Tyr	604134.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	NULL
11093	21265043	Disease	p.Arg692Cys	604134.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	NULL
11093	74749836	Disease	p.Arg692Cys	604134.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	21265034,NP_620594
11093	73695936	Disease	p.Arg692Cys	604134.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	NULL
11093	21265043	Disease	p.Arg268Pro	604134.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	8	smart00608	NULL
11093	21265043	Disease	p.Arg268Pro	604134.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	356	cd00203	NULL
11093	21265043	Disease	p.Arg268Pro	604134.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	306	cd04269	NULL
11093	21265043	Disease	p.Arg268Pro	604134.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	252	cd04273	NULL
11093	21265043	Disease	p.Arg268Pro	604134.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	224	cd04272	NULL
11093	21265043	Disease	p.Arg268Pro	604134.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	310	cd04267	NULL
11093	21265043	Disease	p.Arg268Pro	604134.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	197	pfam01421	NULL
11093	74749836	Disease	p.Arg268Pro	604134.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	356	cd00203	21265034,NP_620594
11093	74749836	Disease	p.Arg268Pro	604134.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	197	pfam01421	21265034,NP_620594
11093	74749836	Disease	p.Arg268Pro	604134.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	224	cd04272	21265034,NP_620594
11093	74749836	Disease	p.Arg268Pro	604134.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	252	cd04273	21265034,NP_620594
11093	74749836	Disease	p.Arg268Pro	604134.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	306	cd04269	21265034,NP_620594
11093	74749836	Disease	p.Arg268Pro	604134.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	310	cd04267	21265034,NP_620594
11093	73695936	Disease	p.Arg268Pro	604134.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	356	cd00203	NULL
11093	73695936	Disease	p.Arg268Pro	604134.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	197	pfam01421	NULL
11093	73695936	Disease	p.Arg268Pro	604134.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	224	cd04272	NULL
11093	73695936	Disease	p.Arg268Pro	604134.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	252	cd04273	NULL
11093	73695936	Disease	p.Arg268Pro	604134.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	306	cd04269	NULL
11093	73695936	Disease	p.Arg268Pro	604134.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	310	cd04267	NULL
11093	21265043	Disease	p.Gln448Glu	604134.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	NULL
11093	74749836	Disease	p.Gln448Glu	604134.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	21265034,NP_620594
11093	73695936	Disease	p.Gln448Glu	604134.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	NULL
11093	21265043	Disease	p.Pro475Ser	604134.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	NULL
11093	74749836	Disease	p.Pro475Ser	604134.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	21265034,NP_620594
11093	73695936	Disease	p.Pro475Ser	604134.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	No Domain	N/A	NULL
11093	21265043	Disease	p.Ala250Val	604134.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	315_G	cd00203	NULL
11093	21265043	Disease	p.Ala250Val	604134.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	271	cd04269	NULL
11093	21265043	Disease	p.Ala250Val	604134.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	232	cd04273	NULL
11093	21265043	Disease	p.Ala250Val	604134.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	206_G	cd04272	NULL
11093	21265043	Disease	p.Ala250Val	604134.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	286	cd04267	NULL
11093	21265043	Disease	p.Ala250Val	604134.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	173	pfam01421	NULL
11093	74749836	Disease	p.Ala250Val	604134.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	315_G	cd00203	21265034,NP_620594
11093	74749836	Disease	p.Ala250Val	604134.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	173	pfam01421	21265034,NP_620594
11093	74749836	Disease	p.Ala250Val	604134.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	206_G	cd04272	21265034,NP_620594
11093	74749836	Disease	p.Ala250Val	604134.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	232	cd04273	21265034,NP_620594
11093	74749836	Disease	p.Ala250Val	604134.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	271	cd04269	21265034,NP_620594
11093	74749836	Disease	p.Ala250Val	604134.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	286	cd04267	21265034,NP_620594
11093	73695936	Disease	p.Ala250Val	604134.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	315_G	cd00203	NULL
11093	73695936	Disease	p.Ala250Val	604134.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	173	pfam01421	NULL
11093	73695936	Disease	p.Ala250Val	604134.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	206_G	cd04272	NULL
11093	73695936	Disease	p.Ala250Val	604134.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	232	cd04273	NULL
11093	73695936	Disease	p.Ala250Val	604134.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	271	cd04269	NULL
11093	73695936	Disease	p.Ala250Val	604134.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL	OMIM	286	cd04267	NULL
9289	224809323	Disease	p.Arg38Trp	604110.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	NULL
9289	45476992	Disease	p.Arg38Trp	604110.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	224809316,NP_001139243|41584200,NP_005673
9289	45476992	Disease	p.Arg38Trp	604110.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	224809316,NP_001139243|41584200,NP_005673
9289	224809314	Disease	p.Arg38Trp	604110.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	NULL
9289	224809320	Disease	p.Arg38Trp	604110.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	NULL
9289	224809318	Disease	p.Arg38Trp	604110.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	NULL
9289	41584202	Disease	p.Arg38Trp	604110.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	NULL
9289	41584198	Disease	p.Arg38Trp	604110.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	NULL
9289	224809323	Disease	p.Cys346Ser	604110.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	5	pfam01825	NULL
9289	224809323	Disease	p.Cys346Ser	604110.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	5	smart00303	NULL
9289	45476992	Disease	p.Cys346Ser	604110.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	5	pfam01825	224809316,NP_001139243|41584200,NP_005673
9289	45476992	Disease	p.Cys346Ser	604110.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	5	smart00303	224809316,NP_001139243|41584200,NP_005673
9289	45476992	Disease	p.Cys346Ser	604110.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	5	pfam01825	224809316,NP_001139243|41584200,NP_005673
9289	45476992	Disease	p.Cys346Ser	604110.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	5	smart00303	224809316,NP_001139243|41584200,NP_005673
9289	224809314	Disease	p.Cys346Ser	604110.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	5	pfam01825	NULL
9289	224809314	Disease	p.Cys346Ser	604110.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	5	smart00303	NULL
9289	224809320	Disease	p.Cys346Ser	604110.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	NULL
9289	224809318	Disease	p.Cys346Ser	604110.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	5	pfam01825	NULL
9289	224809318	Disease	p.Cys346Ser	604110.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	5	smart00303	NULL
9289	41584202	Disease	p.Cys346Ser	604110.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	5	pfam01825	NULL
9289	41584202	Disease	p.Cys346Ser	604110.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	5	smart00303	NULL
9289	41584198	Disease	p.Cys346Ser	604110.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	5	pfam01825	NULL
9289	41584198	Disease	p.Cys346Ser	604110.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	5	smart00303	NULL
9289	224809323	Disease	p.Arg565Trp	604110.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	231	pfam00002	NULL
9289	45476992	Disease	p.Arg565Trp	604110.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	223	pfam00002	224809316,NP_001139243|41584200,NP_005673
9289	45476992	Disease	p.Arg565Trp	604110.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	223	pfam00002	224809316,NP_001139243|41584200,NP_005673
9289	224809314	Disease	p.Arg565Trp	604110.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	231	pfam00002	NULL
9289	224809320	Disease	p.Arg565Trp	604110.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	224	pfam00002	NULL
9289	224809318	Disease	p.Arg565Trp	604110.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	231	pfam00002	NULL
9289	41584202	Disease	p.Arg565Trp	604110.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	231	pfam00002	NULL
9289	41584198	Disease	p.Arg565Trp	604110.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	231	pfam00002	NULL
9289	224809323	Disease	p.Cys91Ser	604110.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	NULL
9289	45476992	Disease	p.Cys91Ser	604110.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	224809316,NP_001139243|41584200,NP_005673
9289	45476992	Disease	p.Cys91Ser	604110.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	224809316,NP_001139243|41584200,NP_005673
9289	224809314	Disease	p.Cys91Ser	604110.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	NULL
9289	224809320	Disease	p.Cys91Ser	604110.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	NULL
9289	224809318	Disease	p.Cys91Ser	604110.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	NULL
9289	41584202	Disease	p.Cys91Ser	604110.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	NULL
9289	41584198	Disease	p.Cys91Ser	604110.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	NULL
9289	224809323	Disease	p.Tyr88Cys	604110.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	NULL
9289	45476992	Disease	p.Tyr88Cys	604110.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	224809316,NP_001139243|41584200,NP_005673
9289	45476992	Disease	p.Tyr88Cys	604110.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	224809316,NP_001139243|41584200,NP_005673
9289	224809314	Disease	p.Tyr88Cys	604110.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	NULL
9289	224809320	Disease	p.Tyr88Cys	604110.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	NULL
9289	224809318	Disease	p.Tyr88Cys	604110.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	NULL
9289	41584202	Disease	p.Tyr88Cys	604110.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	NULL
9289	41584198	Disease	p.Tyr88Cys	604110.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604110	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	OMIM	No Domain	N/A	NULL
9499	209693444	Disease	p.Thr57Ile	604103.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A	OMIM	No Domain	N/A	NULL
9499	5803106	Disease	p.Thr57Ile	604103.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A	OMIM	No Domain	N/A	NULL
9499	209693444	Disease	p.Ser55Phe	604103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A||MYOTILINOPATHY	OMIM	No Domain	N/A	NULL
9499	5803106	Disease	p.Ser55Phe	604103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A||MYOTILINOPATHY	OMIM	No Domain	N/A	NULL
9499	209693444	Disease	p.Ser60Cys	604103.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	No Domain	N/A	NULL
9499	5803106	Disease	p.Ser60Cys	604103.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	No Domain	N/A	NULL
9499	209693444	Disease	p.Ser60Phe	604103.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	No Domain	N/A	NULL
9499	5803106	Disease	p.Ser60Phe	604103.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	No Domain	N/A	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	29	cd05728	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	31	cd05891	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	13	cd05731	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	33	cd05747	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	27	cd05724	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	16	cd04978	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	14	cd05723	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	39	smart00409	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	39	smart00410	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	33	cd05730	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	31	cd07693	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	14	cd05748	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	13	cd05725	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	24	cd05857	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	13	cd05892	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	13	cd05893	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	13	cd05863	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	13	cd05744	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	13	cd05763	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	27	cd00096	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	24	cd05729	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	24	cd05856	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	32	cd05732	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	32	pfam07679	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	31	cd05737	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	14	cd05750	NULL
9499	209693444	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	16	cd04969	NULL
9499	5803106	Disease	p.Ser95Ile	604103.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOTILINOPATHY	OMIM	No Domain	N/A	NULL
9499	209693444	Disease	p.Ser39Phe	604103.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOPATHY, SPHEROID BODY	OMIM	No Domain	N/A	NULL
9499	5803106	Disease	p.Ser39Phe	604103.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604103	MYOPATHY, SPHEROID BODY	OMIM	No Domain	N/A	NULL
2916	239938639	Disease	p.Glu781Lys	604096.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	408	pfam00003	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	604096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	132	pfam01094	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	604096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	140	cd06363	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	604096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	97	cd06370	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	604096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	137	cd01391	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	604096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	169	cd06350	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	604096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	116	cd06366	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	604096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	75	cd06346	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	604096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	115	cd06361	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	604096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	221	cd06269	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	604096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	125	cd06368	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	604096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	137	cd04509	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	604096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	125	cd06352	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	604096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	156	cd06268	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	604096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	141	cd06362	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	604096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	114	cd06376	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	604096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	115	cd06365	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	604096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	119	cd06375	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	604096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	269	cd06367	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	604096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	124	cd06364	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	604096.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	126	cd06374	110611176,NP_000834
2916	239938639	Disease	p.Pro46Leu	604096.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	14	cd06363	110611176,NP_000834
2916	239938639	Disease	p.Pro46Leu	604096.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	6_G	cd06370	110611176,NP_000834
2916	239938639	Disease	p.Pro46Leu	604096.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	7	cd01391	110611176,NP_000834
2916	239938639	Disease	p.Pro46Leu	604096.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	7	cd06350	110611176,NP_000834
2916	239938639	Disease	p.Pro46Leu	604096.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	7	cd06366	110611176,NP_000834
2916	239938639	Disease	p.Pro46Leu	604096.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	7	cd06346	110611176,NP_000834
2916	239938639	Disease	p.Pro46Leu	604096.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	7	cd06361	110611176,NP_000834
2916	239938639	Disease	p.Pro46Leu	604096.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	7	cd06269	110611176,NP_000834
2916	239938639	Disease	p.Pro46Leu	604096.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	7	cd06368	110611176,NP_000834
2916	239938639	Disease	p.Pro46Leu	604096.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	7	cd04509	110611176,NP_000834
2916	239938639	Disease	p.Pro46Leu	604096.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	10	cd06362	110611176,NP_000834
2916	239938639	Disease	p.Pro46Leu	604096.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	10	cd06376	110611176,NP_000834
2916	239938639	Disease	p.Pro46Leu	604096.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	10	cd06365	110611176,NP_000834
2916	239938639	Disease	p.Pro46Leu	604096.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	10	cd06375	110611176,NP_000834
2916	239938639	Disease	p.Pro46Leu	604096.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	10	cd06367	110611176,NP_000834
2916	239938639	Disease	p.Pro46Leu	604096.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	20	cd06364	110611176,NP_000834
2916	239938639	Disease	p.Pro46Leu	604096.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	17	cd06374	110611176,NP_000834
2916	239938639	Disease	p.Cys522Tyr	604096.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	9	pfam07562	110611176,NP_000834
2916	239938639	Disease	p.Ile405Thr	604096.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	670	pfam01094	110611176,NP_000834
2916	239938639	Disease	p.Ile405Thr	604096.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	395	cd06363	110611176,NP_000834
2916	239938639	Disease	p.Ile405Thr	604096.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	399	cd06370	110611176,NP_000834
2916	239938639	Disease	p.Ile405Thr	604096.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	543	cd01391	110611176,NP_000834
2916	239938639	Disease	p.Ile405Thr	604096.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	560	cd06350	110611176,NP_000834
2916	239938639	Disease	p.Ile405Thr	604096.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	437	cd06366	110611176,NP_000834
2916	239938639	Disease	p.Ile405Thr	604096.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	347	cd06346	110611176,NP_000834
2916	239938639	Disease	p.Ile405Thr	604096.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	389	cd06361	110611176,NP_000834
2916	239938639	Disease	p.Ile405Thr	604096.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	847	cd06269	110611176,NP_000834
2916	239938639	Disease	p.Ile405Thr	604096.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	509	cd06368	110611176,NP_000834
2916	239938639	Disease	p.Ile405Thr	604096.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	525	cd04509	110611176,NP_000834
2916	239938639	Disease	p.Ile405Thr	604096.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	531	cd06352	110611176,NP_000834
2916	239938639	Disease	p.Ile405Thr	604096.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	555	cd06268	110611176,NP_000834
2916	239938639	Disease	p.Ile405Thr	604096.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	455	cd06362	110611176,NP_000834
2916	239938639	Disease	p.Ile405Thr	604096.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	372	cd06376	110611176,NP_000834
2916	239938639	Disease	p.Ile405Thr	604096.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	389	cd06365	110611176,NP_000834
2916	239938639	Disease	p.Ile405Thr	604096.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	388	cd06375	110611176,NP_000834
2916	239938639	Disease	p.Ile405Thr	604096.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	626	cd06367	110611176,NP_000834
2916	239938639	Disease	p.Ile405Thr	604096.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	402	cd06364	110611176,NP_000834
2916	239938639	Disease	p.Ile405Thr	604096.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604096	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	OMIM	386	cd06374	110611176,NP_000834
10913	21263572	Disease	p.Arg89His	604095.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604095	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE||ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT	OMIM	65	cd00185	11641231,NP_071731
10913	21263572	Disease	p.Cys87Arg	604095.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604095	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE	OMIM	63	cd00185	11641231,NP_071731
10913	21263572	Disease	p.Arg420Gln	604095.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604095	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT	OMIM	82	cd08311	11641231,NP_071731
10913	21263572	Disease	p.Arg420Gln	604095.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604095	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT	OMIM	85	pfam00531	11641231,NP_071731
10913	21263572	Disease	p.Arg375His	604095.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604095	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE	OMIM	27	cd08311	11641231,NP_071731
10913	21263572	Disease	p.Arg375His	604095.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604095	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE	OMIM	18	pfam00531	11641231,NP_071731
10913	21263572	Disease	p.Asp110Ala	604095.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604095	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE	OMIM	87	cd00185	11641231,NP_071731
10913	21263572	Disease	p.Val370Ala	604095.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604095	HAIR MORPHOLOGY 1, HAIR THICKNESS	OMIM	22	cd08311	11641231,NP_071731
10913	21263572	Disease	p.Val370Ala	604095.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604095	HAIR MORPHOLOGY 1, HAIR THICKNESS	OMIM	13	pfam00531	11641231,NP_071731
388531	74711357	Disease	p.Trp299Arg	604067.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604067	BRADYOPSIA	OMIM	No Domain	N/A	115496700,NP_997274
10801	116256489	Disease	p.Arg88Trp	604061.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061	AMYOTROPHY, HEREDITARY NEURALGIC	OMIM	No Domain	N/A	NULL
10801	164698500	Disease	p.Arg88Trp	604061.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061	AMYOTROPHY, HEREDITARY NEURALGIC	OMIM	No Domain	N/A	NULL
10801	164698498	Disease	p.Arg88Trp	604061.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061	AMYOTROPHY, HEREDITARY NEURALGIC	OMIM	No Domain	N/A	NULL
10801	164698502	Disease	p.Arg88Trp	604061.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061	AMYOTROPHY, HEREDITARY NEURALGIC	OMIM	No Domain	N/A	NULL
10801	93141311	Disease	p.Arg88Trp	604061.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061	AMYOTROPHY, HEREDITARY NEURALGIC	OMIM	No Domain	N/A	164698494,NP_001106963
10801	164698496	Disease	p.Arg88Trp	604061.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061	AMYOTROPHY, HEREDITARY NEURALGIC	OMIM	No Domain	N/A	NULL
10801	164698504	Disease	p.Arg88Trp	604061.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061	AMYOTROPHY, HEREDITARY NEURALGIC	OMIM	53	pfam01926	NULL
10801	164698504	Disease	p.Arg88Trp	604061.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061	AMYOTROPHY, HEREDITARY NEURALGIC	OMIM	112	COG5019	NULL
10801	164698504	Disease	p.Arg88Trp	604061.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061	AMYOTROPHY, HEREDITARY NEURALGIC	OMIM	103	cd01850	NULL
10801	164698504	Disease	p.Arg88Trp	604061.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061	AMYOTROPHY, HEREDITARY NEURALGIC	OMIM	66	pfam00735	NULL
10801	116256489	Disease	p.Ser93Phe	604061.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061	AMYOTROPHY, HEREDITARY NEURALGIC	OMIM	No Domain	N/A	NULL
10801	164698500	Disease	p.Ser93Phe	604061.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061	AMYOTROPHY, HEREDITARY NEURALGIC	OMIM	No Domain	N/A	NULL
10801	164698498	Disease	p.Ser93Phe	604061.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061	AMYOTROPHY, HEREDITARY NEURALGIC	OMIM	No Domain	N/A	NULL
10801	164698502	Disease	p.Ser93Phe	604061.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061	AMYOTROPHY, HEREDITARY NEURALGIC	OMIM	No Domain	N/A	NULL
10801	93141311	Disease	p.Ser93Phe	604061.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061	AMYOTROPHY, HEREDITARY NEURALGIC	OMIM	No Domain	N/A	164698494,NP_001106963
10801	164698496	Disease	p.Ser93Phe	604061.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061	AMYOTROPHY, HEREDITARY NEURALGIC	OMIM	No Domain	N/A	NULL
10801	164698504	Disease	p.Ser93Phe	604061.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061	AMYOTROPHY, HEREDITARY NEURALGIC	OMIM	59	pfam01926	NULL
10801	164698504	Disease	p.Ser93Phe	604061.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061	AMYOTROPHY, HEREDITARY NEURALGIC	OMIM	117	COG5019	NULL
10801	164698504	Disease	p.Ser93Phe	604061.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061	AMYOTROPHY, HEREDITARY NEURALGIC	OMIM	108	cd01850	NULL
10801	164698504	Disease	p.Ser93Phe	604061.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604061	AMYOTROPHY, HEREDITARY NEURALGIC	OMIM	72	pfam00735	NULL
9526	215274025	Disease	p.Gly73Glu	604041.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604041	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If	OMIM	33	pfam04193	116517313,NP_004861
9526	215274025	Disease	p.Gly73Glu	604041.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604041	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If	OMIM	19	smart00679	116517313,NP_004861
9526	215274025	Disease	p.Leu119Pro	604041.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604041	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If	OMIM	No Domain	N/A	116517313,NP_004861
9526	215274025	Disease	p.Met1Thr	604041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604041	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If	OMIM	No Domain	N/A	116517313,NP_004861
9526	215274025	Disease	p.Leu74Ser	604041.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604041	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If	OMIM	35	pfam04193	116517313,NP_004861
9526	215274025	Disease	p.Leu74Ser	604041.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604041	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If	OMIM	20	smart00679	116517313,NP_004861
9451	296439367	Disease	p.Arg587Gln	604032.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604032	WOLCOTT-RALLISON SYNDROME	OMIM	No Domain	N/A	134304838,NP_004827
3784	6166005	Disease	p.Ser1570Leu	604001.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604001	LONG QT SYNDROME 11	OMIM	No Domain	N/A	32479527,NP_000209
3784	32479525	Disease	p.Ser1570Leu	604001.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604001	LONG QT SYNDROME 11	OMIM	No Domain	N/A	NULL
10721	139394648	Disease	p.Lys535Glu	603968.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603968	XERODERMA PIGMENTOSUM, VARIANT TYPE	OMIM	653	COG1202	NULL
10721	139394648	Disease	p.Lys535Glu	603968.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603968	XERODERMA PIGMENTOSUM, VARIANT TYPE	OMIM	1006	COG1204	NULL
10721	139394648	Disease	p.Lys589Thr	603968.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603968	XERODERMA PIGMENTOSUM, VARIANT TYPE	OMIM	712	COG1202	NULL
10721	139394648	Disease	p.Lys589Thr	603968.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603968	XERODERMA PIGMENTOSUM, VARIANT TYPE	OMIM	1066	COG1204	NULL
6329	292495096	Disease	p.Thr704Met	603967.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	HYPERKALEMIC PERIODIC PARALYSIS||PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS	OMIM	181	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Met1592Val	603967.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	HYPERKALEMIC PERIODIC PARALYSIS||PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS	OMIM	402	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Arg1448Cys	603967.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	PARAMYOTONIA CONGENITA	OMIM	127	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Arg1448His	603967.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	PARAMYOTONIA CONGENITA	OMIM	127	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Ala1156Thr	603967.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS	OMIM	173	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Ser804Phe	603967.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA||MYOTONIA FLUCTUANS	OMIM	No Domain	N/A	93587342,NP_000325
6329	292495096	Disease	p.Gly1306Val	603967.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	PARAMYOTONIA CONGENITA||MYOTONIA, POTASSIUM-AGGRAVATED	OMIM	No Domain	N/A	93587342,NP_000325
6329	292495096	Disease	p.Thr1313Met	603967.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	PARAMYOTONIA CONGENITA	OMIM	No Domain	N/A	93587342,NP_000325
6329	292495096	Disease	p.Val1589Met	603967.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	MYOTONIA, POTASSIUM-AGGRAVATED||PARAMYOTONIA CONGENITA	OMIM	399	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Ile1160Val	603967.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE	OMIM	177	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Leu1433Arg	603967.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	PARAMYOTONIA CONGENITA	OMIM	70	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Gly1306Ala	603967.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	MYOTONIA FLUCTUANS	OMIM	No Domain	N/A	93587342,NP_000325
6329	292495096	Disease	p.Val1293Ile	603967.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	PARAMYOTONIA CONGENITA	OMIM	406	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Val445Met	603967.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	MYOTONIA CONGENITA, ATYPICAL	OMIM	406	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Arg669His	603967.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2	OMIM	130	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Arg672His	603967.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2	OMIM	133	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Arg672Gly	603967.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2	OMIM	133	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Val1442Glu	603967.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	MYASTHENIC SYNDROME	OMIM	121	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Arg672Ser	603967.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2	OMIM	133	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Pro1158Ser	603967.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2	OMIM	175	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Arg675Gly	603967.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE	OMIM	139	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Arg675Gln	603967.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE	OMIM	139	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Arg675Trp	603967.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE	OMIM	139	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Gly1306Glu	603967.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	MYOTONIA PERMANENS	OMIM	No Domain	N/A	93587342,NP_000325
6329	292495096	Disease	p.Met1476Ile	603967.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	PARAMYOTONIA CONGENITA	OMIM	170	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Asn1297Lys	603967.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS	OMIM	No Domain	N/A	93587342,NP_000325
6329	292495096	Disease	p.Ile693Thr	603967.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	PARAMYOTONIA CONGENITA	OMIM	169	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Ile141Val	603967.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603967	PARAMYOTONIA CONGENITA	OMIM	No Domain	N/A	93587342,NP_000325
10686	6685318	Disease	p.Gly239Arg	603959.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603959	HYPOMAGNESEMIA, PRIMARY	OMIM	184	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Gly191Arg	603959.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603959	HYPOMAGNESEMIA, PRIMARY	OMIM	137	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Gly198Asp	603959.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603959	HYPOMAGNESEMIA, PRIMARY	OMIM	144	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Met71Arg	603959.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603959	HYPOMAGNESEMIA, PRIMARY	OMIM	No Domain	N/A	5729970,NP_006571
10686	6685318	Disease	p.Leu167Pro	603959.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603959	HYPOMAGNESEMIA, PRIMARY	OMIM	113	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Phe232Cys	603959.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603959	HYPOMAGNESEMIA, PRIMARY	OMIM	177	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Gly233Asp	603959.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603959	HYPOMAGNESEMIA, PRIMARY	OMIM	178	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Ser235Phe	603959.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603959	HYPOMAGNESEMIA, PRIMARY	OMIM	180	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Leu151Phe	603959.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603959	HYPOMAGNESEMIA, PRIMARY	OMIM	93	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Leu151Trp	603959.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603959	HYPOMAGNESEMIA, PRIMARY	OMIM	93	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Leu145Pro	603959.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603959	HYPOMAGNESEMIA, PRIMARY	OMIM	87	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Leu151Pro	603959.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603959	HYPOMAGNESEMIA, PRIMARY	OMIM	93	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Thr233Arg	603959.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603959	HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING	OMIM	178	pfam00822	5729970,NP_006571
3779	292495100	Disease	p.Glu65Lys	603951.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603951	HYPERTENSION, DIASTOLIC, RESISTANCE TO	OMIM	72	pfam03185	4758626,NP_004128
8893	160359049	Disease	p.Thr91Ala	603945.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	67	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Thr91Ala	603945.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	76	cd04181	83267879,NP_003898
8893	160359049	Disease	p.Thr91Ala	603945.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	50	cd04197	83267879,NP_003898
8893	160359049	Disease	p.Thr91Ala	603945.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	97	cd04198	83267879,NP_003898
8893	160359049	Disease	p.Thr91Ala	603945.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	97	cd02507	83267879,NP_003898
8893	160359049	Disease	p.Trp628Arg	603945.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	No Domain	N/A	83267879,NP_003898
8893	160359049	Disease	p.Gly386Val	603945.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	39	cd04651	83267879,NP_003898
8893	160359049	Disease	p.Gly386Val	603945.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	26	cd05787	83267879,NP_003898
8893	160359049	Disease	p.Gly386Val	603945.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	28	cd03356	83267879,NP_003898
8893	160359049	Disease	p.Gly386Val	603945.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	26	cd04652	83267879,NP_003898
8893	160359049	Disease	p.Gly386Val	603945.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	70	cd03352	83267879,NP_003898
8893	160359049	Disease	p.Gly386Val	603945.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	54	cd05636	83267879,NP_003898
8893	160359049	Disease	p.Gly386Val	603945.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	473	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Gly386Val	603945.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	44	cd03358	83267879,NP_003898
8893	160359049	Disease	p.Arg113His	603945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER||OVARIOLEUKODYSTROPHY	OMIM	110	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Arg113His	603945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER||OVARIOLEUKODYSTROPHY	OMIM	119	cd04181	83267879,NP_003898
8893	160359049	Disease	p.Arg113His	603945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER||OVARIOLEUKODYSTROPHY	OMIM	72	cd04197	83267879,NP_003898
8893	160359049	Disease	p.Arg113His	603945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER||OVARIOLEUKODYSTROPHY	OMIM	138	cd04198	83267879,NP_003898
8893	160359049	Disease	p.Arg113His	603945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER||OVARIOLEUKODYSTROPHY	OMIM	136	cd02507	83267879,NP_003898
8893	160359049	Disease	p.Arg195His	603945.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	227_G	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Arg195His	603945.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	227	cd04181	83267879,NP_003898
8893	160359049	Disease	p.Arg195His	603945.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	173	cd04197	83267879,NP_003898
8893	160359049	Disease	p.Arg195His	603945.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	300	cd04198	83267879,NP_003898
8893	160359049	Disease	p.Arg195His	603945.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	302	cd02507	83267879,NP_003898
8893	160359049	Disease	p.Leu309Val	603945.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	375	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Arg195Cys	603945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	OVARIOLEUKODYSTROPHY	OMIM	227_G	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Arg195Cys	603945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	OVARIOLEUKODYSTROPHY	OMIM	227	cd04181	83267879,NP_003898
8893	160359049	Disease	p.Arg195Cys	603945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	OVARIOLEUKODYSTROPHY	OMIM	173	cd04197	83267879,NP_003898
8893	160359049	Disease	p.Arg195Cys	603945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	OVARIOLEUKODYSTROPHY	OMIM	300	cd04198	83267879,NP_003898
8893	160359049	Disease	p.Arg195Cys	603945.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	OVARIOLEUKODYSTROPHY	OMIM	302	cd02507	83267879,NP_003898
8893	160359049	Disease	p.Thr182Met	603945.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	214	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Thr182Met	603945.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	211	cd04181	83267879,NP_003898
8893	160359049	Disease	p.Thr182Met	603945.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	158	cd04197	83267879,NP_003898
8893	160359049	Disease	p.Thr182Met	603945.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	215	cd04198	83267879,NP_003898
8893	160359049	Disease	p.Thr182Met	603945.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	215	cd02507	83267879,NP_003898
8893	160359049	Disease	p.Arg315His	603945.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	381	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Phe56Val	603945.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	21	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Phe56Val	603945.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	16	cd04181	83267879,NP_003898
8893	160359049	Disease	p.Phe56Val	603945.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	15	cd04197	83267879,NP_003898
8893	160359049	Disease	p.Phe56Val	603945.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	16	cd04198	83267879,NP_003898
8893	160359049	Disease	p.Phe56Val	603945.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	16	cd02507	83267879,NP_003898
8893	160359049	Disease	p.Phe56Cys	603945.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	21	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Phe56Cys	603945.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	16	cd04181	83267879,NP_003898
8893	160359049	Disease	p.Phe56Cys	603945.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	15	cd04197	83267879,NP_003898
8893	160359049	Disease	p.Phe56Cys	603945.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	16	cd04198	83267879,NP_003898
8893	160359049	Disease	p.Phe56Cys	603945.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603945	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	OMIM	16	cd02507	83267879,NP_003898
2992	296040507	Disease	p.Thr83Met	603942.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603942	GLYCOGEN STORAGE DISEASE	OMIM	173	pfam01501	NULL
2992	296040507	Disease	p.Thr83Met	603942.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603942	GLYCOGEN STORAGE DISEASE	OMIM	117	cd02537	NULL
2992	296040507	Disease	p.Thr83Met	603942.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603942	GLYCOGEN STORAGE DISEASE	OMIM	94	cd00505	NULL
2992	296040507	Disease	p.Thr83Met	603942.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603942	GLYCOGEN STORAGE DISEASE	OMIM	141	cd04194	NULL
2992	13432151	Disease	p.Thr83Met	603942.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603942	GLYCOGEN STORAGE DISEASE	OMIM	173	pfam01501	20127457,NP_004121
2992	13432151	Disease	p.Thr83Met	603942.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603942	GLYCOGEN STORAGE DISEASE	OMIM	117	cd02537	20127457,NP_004121
2992	13432151	Disease	p.Thr83Met	603942.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603942	GLYCOGEN STORAGE DISEASE	OMIM	94	cd00505	20127457,NP_004121
2992	13432151	Disease	p.Thr83Met	603942.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603942	GLYCOGEN STORAGE DISEASE	OMIM	141	cd04194	20127457,NP_004121
2992	13432151	Disease	p.Thr83Met	603942.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603942	GLYCOGEN STORAGE DISEASE	OMIM	99	cd06914	20127457,NP_004121
2992	296040505	Disease	p.Thr83Met	603942.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603942	GLYCOGEN STORAGE DISEASE	OMIM	173	pfam01501	NULL
2992	296040505	Disease	p.Thr83Met	603942.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603942	GLYCOGEN STORAGE DISEASE	OMIM	117	cd02537	NULL
2992	296040505	Disease	p.Thr83Met	603942.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603942	GLYCOGEN STORAGE DISEASE	OMIM	94	cd00505	NULL
2992	296040505	Disease	p.Thr83Met	603942.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603942	GLYCOGEN STORAGE DISEASE	OMIM	141	cd04194	NULL
2992	296040505	Disease	p.Thr83Met	603942.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603942	GLYCOGEN STORAGE DISEASE	OMIM	99	cd06914	NULL
10560	12643426	Disease	p.Gly172Asp	603941.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603941	THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME	OMIM	150	pfam01770	27734719,NP_008927
10560	12643426	Disease	p.Gly172Asp	603941.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603941	THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME	OMIM	273	cd06174	27734719,NP_008927
10560	12643426	Disease	p.Cys152Thr	603941.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603941	THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME	OMIM	130	pfam01770	27734719,NP_008927
10560	12643426	Disease	p.Cys152Thr	603941.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603941	THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME	OMIM	233	cd06174	27734719,NP_008927
8859	19860281	Disease	p.Asn985Tyr	603937.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603937	HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	14602431,NP_115830
8859	4759180	Disease	p.Asn985Tyr	603937.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603937	HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
8859	19860281	Disease	p.Thr373Ile	603937.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603937	RETINITIS PIGMENTOSA 1	OMIM	No Domain	N/A	14602431,NP_115830
8859	4759180	Disease	p.Thr373Ile	603937.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603937	RETINITIS PIGMENTOSA 1	OMIM	No Domain	N/A	NULL
10243	10880983	Disease	p.Asn10Tyr	603930.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603930	HYPEREKPLEXIA	OMIM	No Domain	N/A	NULL
10243	13431554	Disease	p.Asn10Tyr	603930.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603930	HYPEREKPLEXIA	OMIM	No Domain	N/A	66932975,NP_001019389
3026	73919921	Disease	p.Gly534Glu	603924.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603924	FACTOR VII-ACTIVATING PROTEASE MARBURG I||CAROTID STENOSIS, SUSCEPTIBILITY TO||VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO	OMIM	389	cd00190	4758502,NP_004123
3026	73919921	Disease	p.Gly534Glu	603924.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603924	FACTOR VII-ACTIVATING PROTEASE MARBURG I||CAROTID STENOSIS, SUSCEPTIBILITY TO||VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO	OMIM	320	pfam00089	4758502,NP_004123
3026	73919921	Disease	p.Gly534Glu	603924.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603924	FACTOR VII-ACTIVATING PROTEASE MARBURG I||CAROTID STENOSIS, SUSCEPTIBILITY TO||VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO	OMIM	543	smart00020	4758502,NP_004123
3026	295054188	Disease	p.Gly534Glu	603924.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603924	FACTOR VII-ACTIVATING PROTEASE MARBURG I||CAROTID STENOSIS, SUSCEPTIBILITY TO||VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
8803	94730427	Disease	p.Gly118Arg	603921.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603921	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH METHYLMALONIC ACIDURIA	OMIM	74	COG0045	11321583,NP_003841
8803	94730427	Disease	p.Gly118Arg	603921.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603921	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH METHYLMALONIC ACIDURIA	OMIM	67	pfam08442	11321583,NP_003841
8803	94730427	Disease	p.Arg284Cys	603921.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603921	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH METHYLMALONIC ACIDURIA	OMIM	251	COG0045	11321583,NP_003841
9531	12643665	Disease	p.Pro209Leu	603883.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603883	MYOPATHY, MYOFIBRILLAR, BAG3-RELATED	OMIM	No Domain	N/A	14043024,NP_004272
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04127	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	58	cd01866	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04129	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	53	cd04147	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd01870	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04136	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd00876	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	98	cd04146	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	pfam00071	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	52	cd04144	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04134	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	117	cd00878	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	76	cd04160	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	77	pfam08477	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	60	cd04137	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04177	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	61	cd01868	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04140	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	104	cd01864	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	57	cd01867	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd01871	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	99	cd01860	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04138	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04133	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd01874	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04115	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd01865	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	62	cd04159	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	82	smart00174	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	61	cd04111	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	49	smart00176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	302	cd00882	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04141	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04145	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04122	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	57	cd01869	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	60	cd04121	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	61	cd04114	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	60	cd04110	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	60	cd00877	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04106	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	64	cd01863	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04117	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	57	cd01861	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	58	cd04113	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04102	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	125	cd00157	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04118	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04109	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	189	cd00154	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	141	cd04112	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04132	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04107	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	64	cd04123	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	58	cd04101	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	197	smart00010	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04124	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04131	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04128	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	84	cd04119	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	80	cd04148	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	79	cd04125	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04108	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04120	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04143	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	smart00173	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	76	cd04139	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	75	smart00175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	49	cd04126	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd01875	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	53	cd04130	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	53	cd04135	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd01862	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	168	COG1100	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	58	cd04172	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	59	cd04116	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04127	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	58	cd01866	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04129	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	53	cd04147	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd01870	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04136	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd00876	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	98	cd04146	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	pfam00071	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	52	cd04144	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04134	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	117	cd00878	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	76	cd04160	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	77	pfam08477	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	60	cd04137	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04177	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	61	cd01868	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04140	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	104	cd01864	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	57	cd01867	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd01871	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	99	cd01860	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04138	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04133	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd01874	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04115	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd01865	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	62	cd04159	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	82	smart00174	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	61	cd04111	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	49	smart00176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	302	cd00882	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04141	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04145	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04122	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	57	cd01869	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	60	cd04121	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	61	cd04114	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	60	cd04110	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	60	cd00877	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04106	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	64	cd01863	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04117	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	57	cd01861	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	58	cd04113	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04102	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	125	cd00157	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04118	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04109	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	189	cd00154	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	141	cd04112	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04132	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04107	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	64	cd04123	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	58	cd04101	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	197	smart00010	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04124	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04131	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04128	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	84	cd04119	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	80	cd04148	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	79	cd04125	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04108	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04120	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04143	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	smart00173	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	76	cd04139	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	75	smart00175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	49	cd04126	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd01875	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	53	cd04130	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	53	cd04135	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd01862	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	168	COG1100	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	58	cd04172	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	59	cd04116	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04127	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	58	cd01866	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04129	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	53	cd04147	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd01870	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04136	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd00876	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	98	cd04146	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	pfam00071	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	52	cd04144	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04134	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	117	cd00878	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	76	cd04160	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	77	pfam08477	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	60	cd04137	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04177	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	61	cd01868	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04140	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	104	cd01864	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	57	cd01867	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd01871	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	99	cd01860	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04138	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04133	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd01874	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04115	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd01865	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	62	cd04159	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	82	smart00174	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	61	cd04111	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	49	smart00176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	302	cd00882	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04141	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04145	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04122	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	57	cd01869	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	60	cd04121	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	61	cd04114	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	60	cd04110	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	60	cd00877	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04106	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	64	cd01863	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04117	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	57	cd01861	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	58	cd04113	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04102	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	125	cd00157	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04118	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04109	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	189	cd00154	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	141	cd04112	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04132	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04107	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	64	cd04123	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	58	cd04101	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	197	smart00010	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04124	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04131	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04128	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	84	cd04119	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	80	cd04148	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	79	cd04125	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04108	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04120	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04143	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	smart00173	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	76	cd04139	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	75	smart00175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	49	cd04126	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd01875	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	53	cd04130	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	53	cd04135	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd01862	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	168	COG1100	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	58	cd04172	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	59	cd04116	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04127	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	58	cd01866	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04129	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	53	cd04147	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd01870	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04136	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd00876	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	98	cd04146	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	pfam00071	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	52	cd04144	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04134	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	117	cd00878	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	76	cd04160	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	77	pfam08477	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	60	cd04137	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04177	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	61	cd01868	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04140	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	104	cd01864	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	57	cd01867	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd01871	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	99	cd01860	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04138	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04133	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd01874	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04115	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd01865	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	62	cd04159	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	82	smart00174	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	61	cd04111	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	49	smart00176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	302	cd00882	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04141	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04145	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04122	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	57	cd01869	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	60	cd04121	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	61	cd04114	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	60	cd04110	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	60	cd00877	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04106	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	64	cd01863	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04117	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	57	cd01861	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	58	cd04113	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04102	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	125	cd00157	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04118	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04109	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	189	cd00154	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	141	cd04112	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd04132	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04107	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	64	cd04123	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	58	cd04101	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	197	smart00010	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04124	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04131	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04128	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	84	cd04119	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	80	cd04148	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	79	cd04125	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04108	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	cd04120	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd04143	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	54	smart00173	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	76	cd04139	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	75	smart00175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	49	cd04126	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	56	cd01875	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	53	cd04130	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	53	cd04135	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	55	cd01862	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	168	COG1100	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	58	cd04172	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	603868.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	59	cd04116	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	125	cd04127	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	115	cd01866	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04129	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04147	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd01870	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	116	cd04136	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	163	cd00876	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	174	cd04146	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	135	pfam00071	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	143	cd04144	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04134	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	183	cd00878	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	153	cd04160	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	143	pfam08477	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	117	cd04137	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04177	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	120	cd01868	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	114	cd04140	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	160	cd01864	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	113	cd01867	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd01871	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	158	cd01860	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04138	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04133	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd01874	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	116	cd04115	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd01865	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	179	cd04159	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	138	smart00174	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	121	cd04111	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	104	smart00176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	512	cd00882	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04141	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04145	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04122	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	114	cd01869	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	115	cd04121	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	117	cd04114	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	115	cd04110	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	127	cd00877	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04106	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	127	cd01863	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04117	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	114	cd01861	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	114	cd04113	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	167	cd04102	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	226	cd00157	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04118	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	125	cd04109	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	310	cd00154	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	199	cd04112	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04132	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	188	cd04107	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	121	cd04123	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	116	cd04176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	115	cd04101	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	271	smart00010	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04124	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04131	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04128	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	203	cd04119	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	199	cd04148	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	147	cd04125	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04108	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04120	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	125	cd04143	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	141	smart00173	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd04139	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	152	smart00175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	105	cd04126	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd01875	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	135	cd04130	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04135	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	115	cd01862	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	296	COG1100	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	114	cd04172	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	119	cd04116	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	125	cd04127	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	115	cd01866	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04129	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04147	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd01870	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	116	cd04136	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	163	cd00876	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	174	cd04146	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	135	pfam00071	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	143	cd04144	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04134	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	183	cd00878	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	153	cd04160	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	143	pfam08477	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	117	cd04137	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04177	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	120	cd01868	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	114	cd04140	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	160	cd01864	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	113	cd01867	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd01871	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	158	cd01860	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04138	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04133	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd01874	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	116	cd04115	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd01865	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	179	cd04159	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	138	smart00174	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	121	cd04111	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	104	smart00176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	512	cd00882	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04141	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04145	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04122	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	114	cd01869	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	115	cd04121	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	117	cd04114	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	115	cd04110	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	127	cd00877	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04106	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	127	cd01863	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04117	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	114	cd01861	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	114	cd04113	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	167	cd04102	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	226	cd00157	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04118	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	125	cd04109	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	310	cd00154	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	199	cd04112	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04132	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	188	cd04107	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	121	cd04123	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	116	cd04176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	115	cd04101	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	271	smart00010	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04124	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04131	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04128	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	203	cd04119	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	199	cd04148	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	147	cd04125	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04108	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04120	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	125	cd04143	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	141	smart00173	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd04139	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	152	smart00175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	105	cd04126	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd01875	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	135	cd04130	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04135	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	115	cd01862	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	296	COG1100	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	114	cd04172	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	119	cd04116	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	125	cd04127	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	115	cd01866	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04129	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04147	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd01870	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	116	cd04136	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	163	cd00876	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	174	cd04146	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	135	pfam00071	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	143	cd04144	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04134	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	183	cd00878	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	153	cd04160	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	143	pfam08477	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	117	cd04137	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04177	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	120	cd01868	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	114	cd04140	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	160	cd01864	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	113	cd01867	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd01871	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	158	cd01860	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04138	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04133	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd01874	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	116	cd04115	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd01865	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	179	cd04159	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	138	smart00174	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	121	cd04111	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	104	smart00176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	512	cd00882	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04141	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04145	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04122	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	114	cd01869	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	115	cd04121	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	117	cd04114	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	115	cd04110	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	127	cd00877	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04106	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	127	cd01863	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04117	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	114	cd01861	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	114	cd04113	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	167	cd04102	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	226	cd00157	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04118	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	125	cd04109	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	310	cd00154	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	199	cd04112	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04132	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	188	cd04107	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	121	cd04123	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	116	cd04176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	115	cd04101	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	271	smart00010	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04124	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04131	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04128	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	203	cd04119	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	199	cd04148	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	147	cd04125	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04108	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04120	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	125	cd04143	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	141	smart00173	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd04139	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	152	smart00175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	105	cd04126	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd01875	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	135	cd04130	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04135	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	115	cd01862	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	296	COG1100	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	114	cd04172	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	119	cd04116	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	125	cd04127	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	115	cd01866	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04129	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04147	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd01870	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	116	cd04136	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	163	cd00876	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	174	cd04146	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	135	pfam00071	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	143	cd04144	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04134	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	183	cd00878	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	153	cd04160	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	143	pfam08477	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	117	cd04137	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04177	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	120	cd01868	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	114	cd04140	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	160	cd01864	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	113	cd01867	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd01871	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	158	cd01860	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04138	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04133	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd01874	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	116	cd04115	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd01865	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	179	cd04159	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	138	smart00174	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	121	cd04111	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	104	smart00176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	512	cd00882	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04141	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04145	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04122	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	114	cd01869	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	115	cd04121	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	117	cd04114	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	115	cd04110	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	127	cd00877	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04106	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	127	cd01863	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04117	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	114	cd01861	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	114	cd04113	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	167	cd04102	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	226	cd00157	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04118	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	125	cd04109	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	310	cd00154	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	199	cd04112	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd04132	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	188	cd04107	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	121	cd04123	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	116	cd04176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	115	cd04101	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	271	smart00010	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04124	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04131	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04128	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	203	cd04119	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	199	cd04148	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	147	cd04125	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	111	cd04108	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04120	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	125	cd04143	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	141	smart00173	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd04139	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	152	smart00175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	105	cd04126	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	112	cd01875	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	135	cd04130	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	110	cd04135	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	115	cd01862	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	296	COG1100	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	114	cd04172	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	603868.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	119	cd04116	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	147	cd04127	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd01866	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	145	cd04129	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	136	cd04147	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd01870	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	140	cd04136	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	196	cd00876	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	196	cd04146	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	190	pfam00071	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	165	cd04144	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	165	cd04134	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	223	cd00878	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	226	cd04160	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd04137	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	133	cd04177	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	143	cd01868	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd04140	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	182	cd01864	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	136	cd01867	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	145	cd01871	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	219	cd01860	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	134	cd04138	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd04133	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd01874	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	152	cd04115	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	133	cd01865	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	280	cd04159	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	207	smart00174	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	146	cd04111	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	124	smart00176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	624	cd00882	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	134	cd04141	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	134	cd04145	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	134	cd04122	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	136	cd01869	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd04121	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	139	cd04114	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd04110	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	149	cd00877	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	133	cd04106	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	159	cd01863	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	132	cd04117	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	142	cd01861	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	193	cd04113	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	196	cd04102	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	288	cd00157	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	136	cd04118	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	147	cd04109	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	372	cd00154	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	222	cd04112	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	186	cd04132	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	232	cd04107	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd04123	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	140	cd04176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd04101	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	311	smart00010	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	129	cd04124	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd04131	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	134	cd04128	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	233	cd04119	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	133	cd04175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	221	cd04148	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	175	cd04125	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	135	cd04108	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	132	cd04120	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	149	cd04143	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	164	smart00173	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	160	cd04139	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	194	smart00175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	174	cd04126	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	138	cd01875	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	170	cd04130	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd04135	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	139	cd01862	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	357	COG1100	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	148	cd04172	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	143	cd04116	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	147	cd04127	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd01866	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	145	cd04129	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	136	cd04147	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd01870	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	140	cd04136	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	196	cd00876	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	196	cd04146	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	190	pfam00071	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	165	cd04144	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	165	cd04134	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	223	cd00878	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	226	cd04160	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd04137	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	133	cd04177	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	143	cd01868	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd04140	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	182	cd01864	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	136	cd01867	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	145	cd01871	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	219	cd01860	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	134	cd04138	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd04133	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd01874	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	152	cd04115	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	133	cd01865	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	280	cd04159	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	207	smart00174	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	146	cd04111	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	124	smart00176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	624	cd00882	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	134	cd04141	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	134	cd04145	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	134	cd04122	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	136	cd01869	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd04121	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	139	cd04114	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd04110	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	149	cd00877	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	133	cd04106	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	159	cd01863	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	132	cd04117	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	142	cd01861	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	193	cd04113	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	196	cd04102	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	288	cd00157	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	136	cd04118	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	147	cd04109	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	372	cd00154	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	222	cd04112	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	186	cd04132	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	232	cd04107	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd04123	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	140	cd04176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd04101	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	311	smart00010	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	129	cd04124	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd04131	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	134	cd04128	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	233	cd04119	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	133	cd04175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	221	cd04148	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	175	cd04125	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	135	cd04108	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	132	cd04120	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	149	cd04143	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	164	smart00173	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	160	cd04139	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	194	smart00175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	174	cd04126	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	138	cd01875	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	170	cd04130	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd04135	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	139	cd01862	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	357	COG1100	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	148	cd04172	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	143	cd04116	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	147	cd04127	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd01866	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	145	cd04129	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	136	cd04147	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd01870	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	140	cd04136	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	196	cd00876	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	196	cd04146	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	190	pfam00071	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	165	cd04144	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	165	cd04134	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	223	cd00878	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	226	cd04160	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd04137	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	133	cd04177	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	143	cd01868	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd04140	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	182	cd01864	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	136	cd01867	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	145	cd01871	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	219	cd01860	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	134	cd04138	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd04133	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd01874	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	152	cd04115	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	133	cd01865	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	280	cd04159	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	207	smart00174	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	146	cd04111	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	124	smart00176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	624	cd00882	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	134	cd04141	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	134	cd04145	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	134	cd04122	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	136	cd01869	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd04121	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	139	cd04114	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd04110	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	149	cd00877	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	133	cd04106	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	159	cd01863	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	132	cd04117	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	142	cd01861	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	193	cd04113	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	196	cd04102	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	288	cd00157	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	136	cd04118	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	147	cd04109	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	372	cd00154	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	222	cd04112	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	186	cd04132	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	232	cd04107	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd04123	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	140	cd04176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd04101	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	311	smart00010	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	129	cd04124	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd04131	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	134	cd04128	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	233	cd04119	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	133	cd04175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	221	cd04148	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	175	cd04125	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	135	cd04108	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	132	cd04120	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	149	cd04143	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	164	smart00173	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	160	cd04139	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	194	smart00175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	174	cd04126	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	138	cd01875	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	170	cd04130	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd04135	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	139	cd01862	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	357	COG1100	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	148	cd04172	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	143	cd04116	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	147	cd04127	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd01866	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	145	cd04129	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	136	cd04147	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd01870	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	140	cd04136	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	196	cd00876	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	196	cd04146	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	190	pfam00071	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	165	cd04144	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	165	cd04134	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	223	cd00878	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	226	cd04160	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd04137	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	133	cd04177	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	143	cd01868	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd04140	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	182	cd01864	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	136	cd01867	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	145	cd01871	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	219	cd01860	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	134	cd04138	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd04133	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd01874	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	152	cd04115	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	133	cd01865	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	280	cd04159	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	207	smart00174	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	146	cd04111	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	124	smart00176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	624	cd00882	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	134	cd04141	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	134	cd04145	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	134	cd04122	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	136	cd01869	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd04121	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	139	cd04114	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd04110	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	149	cd00877	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	133	cd04106	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	159	cd01863	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	132	cd04117	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	142	cd01861	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	193	cd04113	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	196	cd04102	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	288	cd00157	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	136	cd04118	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	147	cd04109	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	372	cd00154	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	222	cd04112	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	186	cd04132	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	232	cd04107	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd04123	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	140	cd04176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	137	cd04101	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	311	smart00010	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	129	cd04124	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd04131	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	134	cd04128	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	233	cd04119	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	133	cd04175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	221	cd04148	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	175	cd04125	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	135	cd04108	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	132	cd04120	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	149	cd04143	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	164	smart00173	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	160	cd04139	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	194	smart00175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	174	cd04126	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	138	cd01875	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	170	cd04130	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	144	cd04135	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	139	cd01862	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	357	COG1100	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	148	cd04172	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	603868.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	143	cd04116	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	82	cd04127	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	72	cd01866	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04129	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68_G	cd04147	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd01870	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04136	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	78	cd00876	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	120	cd04146	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	82	pfam00071	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	66	cd04144	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04134	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	133	cd00878	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	90	cd04160	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	98	pfam08477	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	74	cd04137	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04177	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	75	cd01868	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd04140	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	118	cd01864	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	71	cd01867	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd01871	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	113	cd01860	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04138	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04133	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd01874	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	71	cd04115	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd01865	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	76	cd04159	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	96	smart00174	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	75	cd04111	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	63	smart00176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	383	cd00882	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd04141	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd04145	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04122	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	71	cd01869	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	74	cd04121	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	75	cd04114	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	74	cd04110	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	74	cd00877	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04106	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	78	cd01863	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04117	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	71	cd01861	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	72	cd04113	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	88	cd04102	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	142	cd00157	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd04118	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04109	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	222	cd00154	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	155	cd04112	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70_G	cd04132	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	130	cd04107	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	78	cd04123	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	72	cd04101	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	211	smart00010	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd04124	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04131	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04128	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	101	cd04119	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	98	cd04148	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	96	cd04125	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04108	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04120	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	71	cd04143	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	smart00173	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	90	cd04139	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	90	smart00175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	63	cd04126	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd01875	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	93	cd04130	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	67	cd04135	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd01862	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	211	COG1100	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	72	cd04172	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	73	cd04116	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	82	cd04127	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	72	cd01866	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04129	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68_G	cd04147	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd01870	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04136	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	78	cd00876	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	120	cd04146	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	82	pfam00071	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	66	cd04144	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04134	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	133	cd00878	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	90	cd04160	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	98	pfam08477	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	74	cd04137	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04177	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	75	cd01868	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd04140	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	118	cd01864	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	71	cd01867	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd01871	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	113	cd01860	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04138	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04133	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd01874	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	71	cd04115	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd01865	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	76	cd04159	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	96	smart00174	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	75	cd04111	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	63	smart00176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	383	cd00882	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd04141	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd04145	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04122	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	71	cd01869	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	74	cd04121	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	75	cd04114	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	74	cd04110	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	74	cd00877	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04106	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	78	cd01863	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04117	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	71	cd01861	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	72	cd04113	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	88	cd04102	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	142	cd00157	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd04118	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04109	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	222	cd00154	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	155	cd04112	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70_G	cd04132	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	130	cd04107	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	78	cd04123	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	72	cd04101	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	211	smart00010	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd04124	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04131	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04128	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	101	cd04119	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	98	cd04148	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	96	cd04125	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04108	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04120	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	71	cd04143	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	smart00173	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	90	cd04139	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	90	smart00175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	63	cd04126	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd01875	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	93	cd04130	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	67	cd04135	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd01862	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	211	COG1100	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	72	cd04172	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	73	cd04116	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	82	cd04127	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	72	cd01866	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04129	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68_G	cd04147	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd01870	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04136	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	78	cd00876	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	120	cd04146	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	82	pfam00071	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	66	cd04144	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04134	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	133	cd00878	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	90	cd04160	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	98	pfam08477	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	74	cd04137	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04177	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	75	cd01868	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd04140	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	118	cd01864	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	71	cd01867	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd01871	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	113	cd01860	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04138	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04133	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd01874	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	71	cd04115	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd01865	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	76	cd04159	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	96	smart00174	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	75	cd04111	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	63	smart00176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	383	cd00882	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd04141	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd04145	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04122	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	71	cd01869	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	74	cd04121	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	75	cd04114	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	74	cd04110	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	74	cd00877	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04106	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	78	cd01863	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04117	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	71	cd01861	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	72	cd04113	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	88	cd04102	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	142	cd00157	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd04118	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04109	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	222	cd00154	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	155	cd04112	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70_G	cd04132	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	130	cd04107	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	78	cd04123	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	72	cd04101	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	211	smart00010	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd04124	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04131	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04128	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	101	cd04119	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	98	cd04148	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	96	cd04125	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04108	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04120	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	71	cd04143	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	smart00173	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	90	cd04139	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	90	smart00175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	63	cd04126	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd01875	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	93	cd04130	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	67	cd04135	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd01862	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	211	COG1100	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	72	cd04172	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	73	cd04116	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	82	cd04127	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	72	cd01866	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04129	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68_G	cd04147	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd01870	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04136	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	78	cd00876	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	120	cd04146	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	82	pfam00071	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	66	cd04144	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04134	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	133	cd00878	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	90	cd04160	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	98	pfam08477	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	74	cd04137	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04177	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	75	cd01868	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd04140	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	118	cd01864	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	71	cd01867	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd01871	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	113	cd01860	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04138	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04133	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd01874	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	71	cd04115	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd01865	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	76	cd04159	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	96	smart00174	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	75	cd04111	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	63	smart00176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	383	cd00882	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd04141	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd04145	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04122	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	71	cd01869	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	74	cd04121	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	75	cd04114	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	74	cd04110	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	74	cd00877	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04106	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	78	cd01863	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04117	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	71	cd01861	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	72	cd04113	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	88	cd04102	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	142	cd00157	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd04118	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04109	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	222	cd00154	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	155	cd04112	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70_G	cd04132	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	130	cd04107	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	78	cd04123	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	72	cd04101	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	211	smart00010	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd04124	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04131	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd04128	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	101	cd04119	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	98	cd04148	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	96	cd04125	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04108	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	cd04120	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	71	cd04143	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	68	smart00173	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	90	cd04139	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	90	smart00175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	63	cd04126	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	70	cd01875	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	93	cd04130	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	67	cd04135	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	69	cd01862	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	211	COG1100	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	72	cd04172	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala87Pro	603868.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603868	GRISCELLI SYNDROME, TYPE 2	OMIM	73	cd04116	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
10166	20139303	Disease	p.Glu180Lys	603861.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603861	HHH SYNDROME	OMIM	126	pfam00153	7657585,NP_055067
10166	20139303	Disease	p.Gly27Arg	603861.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603861	HHH SYNDROME	OMIM	24	pfam00153	7657585,NP_055067
10166	20139303	Disease	p.Arg275Gln	603861.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603861	HHH SYNDROME	OMIM	125	pfam00153	7657585,NP_055067
10166	20139303	Disease	p.Met37Arg	603861.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603861	HHH SYNDROME	OMIM	34	pfam00153	7657585,NP_055067
10166	20139303	Disease	p.Leu71Gln	603861.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603861	HHH SYNDROME	OMIM	123	pfam00153	7657585,NP_055067
10166	20139303	Disease	p.Thr272Ile	603861.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603861	HHH SYNDROME	OMIM	122	pfam00153	7657585,NP_055067
10166	20139303	Disease	p.Thr32Arg	603861.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603861	HHH SYNDROME	OMIM	29	pfam00153	7657585,NP_055067
10165	13124095	Disease	p.Arg588Gln	603859.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603859	CITRULLINEMIA, TYPE II, ADULT-ONSET	OMIM	125	pfam00153	7657581,NP_055066
10165	237649019	Disease	p.Arg588Gln	603859.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603859	CITRULLINEMIA, TYPE II, ADULT-ONSET	OMIM	124	pfam00153	NULL
10059	125987821	Disease	p.Ala395Asp	603850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603850	ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION	OMIM	391	COG0699	171460914,NP_036192
10059	125987821	Disease	p.Ala395Asp	603850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603850	ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION	OMIM	206	pfam01031	171460914,NP_036192
10059	171460918	Disease	p.Ala395Asp	603850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603850	ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION	OMIM	391	COG0699	NULL
10059	171460918	Disease	p.Ala395Asp	603850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603850	ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION	OMIM	206	pfam01031	NULL
10059	171460916	Disease	p.Ala395Asp	603850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603850	ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION	OMIM	391	COG0699	NULL
10059	171460916	Disease	p.Ala395Asp	603850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603850	ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION	OMIM	206	pfam01031	NULL
4726	6093600	Disease	p.Cys115Tyr	603848.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603848	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	58	pfam10276	4758792,NP_004544
4726	6093600	Disease	p.Cys115Tyr	603848.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603848	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	64	COG4391	4758792,NP_004544
4722	6166589	Disease	p.Thr145Ile	603846.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603846	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	114	pfam00329	4758788,NP_004542
4722	6166589	Disease	p.Thr145Ile	603846.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603846	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	103	COG3262	4758788,NP_004542
4722	6166589	Disease	p.Thr145Ile	603846.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603846	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	149	COG0852	4758788,NP_004542
4722	6166589	Disease	p.Arg199Trp	603846.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603846	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	219	pfam00329	4758788,NP_004542
4722	6166589	Disease	p.Arg199Trp	603846.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603846	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	160	COG3262	4758788,NP_004542
4722	6166589	Disease	p.Arg199Trp	603846.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603846	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	214	COG0852	4758788,NP_004542
10020	298566315	Disease	p.Arg266Trp	603824.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	435	COG0381	NULL
10020	190014632	Disease	p.Arg266Trp	603824.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	283	cd03786	NULL
10020	190014632	Disease	p.Arg266Trp	603824.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	275	COG0381	NULL
10020	190014632	Disease	p.Arg266Trp	603824.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	469	pfam02350	NULL
10020	298566325	Disease	p.Arg266Trp	603824.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	546	pfam02350	NULL
10020	298566325	Disease	p.Arg266Trp	603824.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	326	cd03786	NULL
10020	298566325	Disease	p.Arg266Trp	603824.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	311	COG0381	NULL
10020	298566312	Disease	p.Arg266Trp	603824.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	321	cd03786	NULL
10020	298566312	Disease	p.Arg266Trp	603824.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	534	pfam02350	NULL
10020	298566312	Disease	p.Arg266Trp	603824.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	305	COG0381	NULL
10020	45476991	Disease	p.Arg266Trp	603824.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	321	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Arg266Trp	603824.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	534	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Arg266Trp	603824.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	305	COG0381	4885285,NP_005467
10020	298566315	Disease	p.Arg266Gln	603824.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	435	COG0381	NULL
10020	190014632	Disease	p.Arg266Gln	603824.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	283	cd03786	NULL
10020	190014632	Disease	p.Arg266Gln	603824.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	275	COG0381	NULL
10020	190014632	Disease	p.Arg266Gln	603824.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	469	pfam02350	NULL
10020	298566325	Disease	p.Arg266Gln	603824.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	546	pfam02350	NULL
10020	298566325	Disease	p.Arg266Gln	603824.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	326	cd03786	NULL
10020	298566325	Disease	p.Arg266Gln	603824.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	311	COG0381	NULL
10020	298566312	Disease	p.Arg266Gln	603824.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	321	cd03786	NULL
10020	298566312	Disease	p.Arg266Gln	603824.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	534	pfam02350	NULL
10020	298566312	Disease	p.Arg266Gln	603824.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	305	COG0381	NULL
10020	45476991	Disease	p.Arg266Gln	603824.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	321	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Arg266Gln	603824.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	534	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Arg266Gln	603824.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	305	COG0381	4885285,NP_005467
10020	298566315	Disease	p.Arg263Leu	603824.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	736	pfam02350	NULL
10020	298566315	Disease	p.Arg263Leu	603824.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	450	cd03786	NULL
10020	298566315	Disease	p.Arg263Leu	603824.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	431	COG0381	NULL
10020	190014632	Disease	p.Arg263Leu	603824.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	280	cd03786	NULL
10020	190014632	Disease	p.Arg263Leu	603824.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	272	COG0381	NULL
10020	190014632	Disease	p.Arg263Leu	603824.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	466	pfam02350	NULL
10020	298566325	Disease	p.Arg263Leu	603824.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	539	pfam02350	NULL
10020	298566325	Disease	p.Arg263Leu	603824.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	323	cd03786	NULL
10020	298566325	Disease	p.Arg263Leu	603824.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	308	COG0381	NULL
10020	298566312	Disease	p.Arg263Leu	603824.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	318	cd03786	NULL
10020	298566312	Disease	p.Arg263Leu	603824.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	521	pfam02350	NULL
10020	298566312	Disease	p.Arg263Leu	603824.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	302	COG0381	NULL
10020	45476991	Disease	p.Arg263Leu	603824.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	318	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Arg263Leu	603824.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	521	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Arg263Leu	603824.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	302	COG0381	4885285,NP_005467
10020	298566315	Disease	p.Arg266Gln	603824.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	435	COG0381	NULL
10020	190014632	Disease	p.Arg266Gln	603824.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	283	cd03786	NULL
10020	190014632	Disease	p.Arg266Gln	603824.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	275	COG0381	NULL
10020	190014632	Disease	p.Arg266Gln	603824.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	469	pfam02350	NULL
10020	298566325	Disease	p.Arg266Gln	603824.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	546	pfam02350	NULL
10020	298566325	Disease	p.Arg266Gln	603824.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	326	cd03786	NULL
10020	298566325	Disease	p.Arg266Gln	603824.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	311	COG0381	NULL
10020	298566312	Disease	p.Arg266Gln	603824.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	321	cd03786	NULL
10020	298566312	Disease	p.Arg266Gln	603824.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	534	pfam02350	NULL
10020	298566312	Disease	p.Arg266Gln	603824.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	305	COG0381	NULL
10020	45476991	Disease	p.Arg266Gln	603824.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	321	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Arg266Gln	603824.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	534	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Arg266Gln	603824.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	SIALURIA	OMIM	305	COG0381	4885285,NP_005467
10020	298566315	Disease	p.Met712Thr	603824.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE||NONAKA MYOPATHY	OMIM	No Domain	N/A	NULL
10020	190014632	Disease	p.Met712Thr	603824.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE||NONAKA MYOPATHY	OMIM	403	COG1940	NULL
10020	298566325	Disease	p.Met712Thr	603824.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE||NONAKA MYOPATHY	OMIM	508	COG1940	NULL
10020	298566312	Disease	p.Met712Thr	603824.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE||NONAKA MYOPATHY	OMIM	No Domain	N/A	NULL
10020	45476991	Disease	p.Met712Thr	603824.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE||NONAKA MYOPATHY	OMIM	503	COG1940	4885285,NP_005467
10020	298566315	Disease	p.Gly576Glu	603824.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	408	COG1940	NULL
10020	190014632	Disease	p.Gly576Glu	603824.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	161	COG1940	NULL
10020	190014632	Disease	p.Gly576Glu	603824.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	145	pfam00480	NULL
10020	298566325	Disease	p.Gly576Glu	603824.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	215	COG1940	NULL
10020	298566325	Disease	p.Gly576Glu	603824.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	196	pfam00480	NULL
10020	298566312	Disease	p.Gly576Glu	603824.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	292	COG1940	NULL
10020	45476991	Disease	p.Gly576Glu	603824.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	198	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Gly576Glu	603824.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	191	pfam00480	4885285,NP_005467
10020	298566315	Disease	p.Ala631Thr	603824.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
10020	190014632	Disease	p.Ala631Thr	603824.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	234	COG1940	NULL
10020	298566325	Disease	p.Ala631Thr	603824.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	278	COG1940	NULL
10020	298566312	Disease	p.Ala631Thr	603824.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	496	COG1940	NULL
10020	45476991	Disease	p.Ala631Thr	603824.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	273	COG1940	4885285,NP_005467
10020	298566315	Disease	p.Val696Met	603824.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
10020	190014632	Disease	p.Val696Met	603824.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	307	COG1940	NULL
10020	298566325	Disease	p.Val696Met	603824.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	428	COG1940	NULL
10020	298566312	Disease	p.Val696Met	603824.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
10020	45476991	Disease	p.Val696Met	603824.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	423	COG1940	4885285,NP_005467
10020	298566315	Disease	p.Arg246Gln	603824.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	711	pfam02350	NULL
10020	298566315	Disease	p.Arg246Gln	603824.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	424	cd03786	NULL
10020	298566315	Disease	p.Arg246Gln	603824.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	413	COG0381	NULL
10020	190014632	Disease	p.Arg246Gln	603824.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	262	cd03786	NULL
10020	190014632	Disease	p.Arg246Gln	603824.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	253	COG0381	NULL
10020	190014632	Disease	p.Arg246Gln	603824.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	442	pfam02350	NULL
10020	298566325	Disease	p.Arg246Gln	603824.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	493	pfam02350	NULL
10020	298566325	Disease	p.Arg246Gln	603824.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	303	cd03786	NULL
10020	298566325	Disease	p.Arg246Gln	603824.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	291	COG0381	NULL
10020	298566312	Disease	p.Arg246Gln	603824.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	294	cd03786	NULL
10020	298566312	Disease	p.Arg246Gln	603824.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	486	pfam02350	NULL
10020	298566312	Disease	p.Arg246Gln	603824.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	286	COG0381	NULL
10020	45476991	Disease	p.Arg246Gln	603824.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	294	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Arg246Gln	603824.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	486	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Arg246Gln	603824.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	286	COG0381	4885285,NP_005467
10020	298566315	Disease	p.Asp225Asn	603824.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	676	pfam02350	NULL
10020	298566315	Disease	p.Asp225Asn	603824.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	401	cd03786	NULL
10020	298566315	Disease	p.Asp225Asn	603824.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	386	COG0381	NULL
10020	190014632	Disease	p.Asp225Asn	603824.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	228	cd03786	NULL
10020	190014632	Disease	p.Asp225Asn	603824.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	230	COG0381	NULL
10020	190014632	Disease	p.Asp225Asn	603824.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	325	pfam02350	NULL
10020	298566325	Disease	p.Asp225Asn	603824.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	463	pfam02350	NULL
10020	298566325	Disease	p.Asp225Asn	603824.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	278	cd03786	NULL
10020	298566325	Disease	p.Asp225Asn	603824.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	270	COG0381	NULL
10020	298566312	Disease	p.Asp225Asn	603824.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	272	cd03786	NULL
10020	298566312	Disease	p.Asp225Asn	603824.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	455	pfam02350	NULL
10020	298566312	Disease	p.Asp225Asn	603824.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	263	COG0381	NULL
10020	45476991	Disease	p.Asp225Asn	603824.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	272	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Asp225Asn	603824.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	455	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Asp225Asn	603824.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	263	COG0381	4885285,NP_005467
10020	298566315	Disease	p.Ala460Val	603824.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	192	COG1940	NULL
10020	298566315	Disease	p.Ala460Val	603824.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	174	pfam00480	NULL
10020	190014632	Disease	p.Ala460Val	603824.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	28	COG1940	NULL
10020	190014632	Disease	p.Ala460Val	603824.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	19	pfam00480	NULL
10020	298566325	Disease	p.Ala460Val	603824.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	68	COG1940	NULL
10020	298566325	Disease	p.Ala460Val	603824.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	55	pfam00480	NULL
10020	298566312	Disease	p.Ala460Val	603824.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	63	COG1940	NULL
10020	298566312	Disease	p.Ala460Val	603824.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	126	pfam00480	NULL
10020	45476991	Disease	p.Ala460Val	603824.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	59	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Ala460Val	603824.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	50	pfam00480	4885285,NP_005467
10020	298566315	Disease	p.Val572Leu	603824.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	404	COG1940	NULL
10020	190014632	Disease	p.Val572Leu	603824.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	157	COG1940	NULL
10020	190014632	Disease	p.Val572Leu	603824.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	141	pfam00480	NULL
10020	298566325	Disease	p.Val572Leu	603824.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	199	COG1940	NULL
10020	298566325	Disease	p.Val572Leu	603824.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	192	pfam00480	NULL
10020	298566312	Disease	p.Val572Leu	603824.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	288	COG1940	NULL
10020	45476991	Disease	p.Val572Leu	603824.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	194	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Val572Leu	603824.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	176	pfam00480	4885285,NP_005467
10020	298566315	Disease	p.Cys303Val	603824.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	12	COG1940	NULL
10020	298566315	Disease	p.Cys303Val	603824.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	3	pfam00480	NULL
10020	190014632	Disease	p.Cys303Val	603824.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	330	cd03786	NULL
10020	190014632	Disease	p.Cys303Val	603824.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	312	COG0381	NULL
10020	190014632	Disease	p.Cys303Val	603824.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	547	pfam02350	NULL
10020	298566325	Disease	p.Cys303Val	603824.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	629	pfam02350	NULL
10020	298566325	Disease	p.Cys303Val	603824.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	366	cd03786	NULL
10020	298566325	Disease	p.Cys303Val	603824.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	352	COG0381	NULL
10020	298566312	Disease	p.Cys303Val	603824.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	361	cd03786	NULL
10020	298566312	Disease	p.Cys303Val	603824.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	623	pfam02350	NULL
10020	298566312	Disease	p.Cys303Val	603824.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	347	COG0381	NULL
10020	45476991	Disease	p.Cys303Val	603824.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	361	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Cys303Val	603824.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	623	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Cys303Val	603824.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	347	COG0381	4885285,NP_005467
10020	298566315	Disease	p.Ala631Val	603824.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	No Domain	N/A	NULL
10020	190014632	Disease	p.Ala631Val	603824.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	234	COG1940	NULL
10020	298566325	Disease	p.Ala631Val	603824.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	278	COG1940	NULL
10020	298566312	Disease	p.Ala631Val	603824.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	496	COG1940	NULL
10020	45476991	Disease	p.Ala631Val	603824.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	NONAKA MYOPATHY	OMIM	273	COG1940	4885285,NP_005467
10020	298566315	Disease	p.Met171Val	603824.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	588	pfam02350	NULL
10020	298566315	Disease	p.Met171Val	603824.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	339	cd03786	NULL
10020	298566315	Disease	p.Met171Val	603824.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	312	COG0381	NULL
10020	190014632	Disease	p.Met171Val	603824.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	153	cd03786	NULL
10020	190014632	Disease	p.Met171Val	603824.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	163	COG0381	NULL
10020	190014632	Disease	p.Met171Val	603824.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	204	pfam02350	NULL
10020	298566325	Disease	p.Met171Val	603824.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	264	pfam02350	NULL
10020	298566325	Disease	p.Met171Val	603824.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	210	cd03786	NULL
10020	298566325	Disease	p.Met171Val	603824.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	204	COG0381	NULL
10020	298566312	Disease	p.Met171Val	603824.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	186	cd03786	NULL
10020	298566312	Disease	p.Met171Val	603824.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	236	pfam02350	NULL
10020	298566312	Disease	p.Met171Val	603824.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	199	COG0381	NULL
10020	45476991	Disease	p.Met171Val	603824.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	186	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Met171Val	603824.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	236	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Met171Val	603824.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603824	INCLUSION BODY MYOPATHY, AUTOSOMAL RECESSIVE	OMIM	199	COG0381	4885285,NP_005467
9333	4759230	Disease	p.Gly113Cys	603805.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603805	PEELING SKIN SYNDROME, ACRAL TYPE	OMIM	164	pfam00868	NULL
9333	20532415	Disease	p.Gly113Cys	603805.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603805	PEELING SKIN SYNDROME, ACRAL TYPE	OMIM	150	pfam00868	94981556,NP_963925
9469	116241297	Disease	p.Arg304Gln	603799.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603799	SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS	OMIM	191	pfam00685	19923281,NP_004264
9469	116241297	Disease	p.Leu259Pro	603799.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603799	SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS	OMIM	133	pfam00685	19923281,NP_004264
9469	116241297	Disease	p.Arg222Trp	603799.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603799	SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS	OMIM	95	pfam00685	19923281,NP_004264
9469	116241297	Disease	p.Leu307Pro	603799.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603799	SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS	OMIM	194	pfam00685	19923281,NP_004264
9469	116241297	Disease	p.Leu286Pro	603799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603799	SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS	OMIM	161	pfam00685	19923281,NP_004264
9469	116241297	Disease	p.Glu372Lys	603799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603799	SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS	OMIM	293	pfam00685	19923281,NP_004264
9469	116241297	Disease	p.Thr141Met	603799.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603799	SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS	OMIM	10	pfam00685	19923281,NP_004264
9469	116241297	Disease	p.Phe159Ile	603799.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603799	SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS	OMIM	28	pfam00685	19923281,NP_004264
9469	116241297	Disease	p.Leu161Phe	603799.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603799	SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS	OMIM	30	pfam00685	19923281,NP_004264
9992	6685661	Disease	p.Gln9Glu	603796.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603796	LONG QT SYNDROME 6, ACQUIRED, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	27436978,NP_751951
9992	6685661	Disease	p.Met54Thr	603796.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603796	LONG QT SYNDROME 6	OMIM	No Domain	N/A	27436978,NP_751951
9992	6685661	Disease	p.Ile57Thr	603796.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603796	LONG QT SYNDROME 6	OMIM	No Domain	N/A	27436978,NP_751951
9992	6685661	Disease	p.Arg27Cys	603796.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603796	ATRIAL FIBRILLATION, FAMILIAL, 4	OMIM	No Domain	N/A	27436978,NP_751951
9992	6685661	Disease	p.Phe60Leu	603796.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603796	LONG QT SYNDROME 3/6, DIGENIC	OMIM	No Domain	N/A	27436978,NP_751951
9516	83304387	Disease	p.Gly112Ser	603795.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	26	pfam10601	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Gly112Ser	603795.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	28	smart00714	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Gly112Ser	603795.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	26	pfam10601	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Gly112Ser	603795.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	28	smart00714	210147505,NP_001129944|65787265,NP_004853
9516	210147507	Disease	p.Gly112Ser	603795.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	26	pfam10601	NULL
9516	210147507	Disease	p.Gly112Ser	603795.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	28	smart00714	NULL
9516	83304387	Disease	p.Thr115Asn	603795.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	29	pfam10601	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Thr115Asn	603795.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	31	smart00714	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Thr115Asn	603795.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	29	pfam10601	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Thr115Asn	603795.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	31	smart00714	210147505,NP_001129944|65787265,NP_004853
9516	210147507	Disease	p.Thr115Asn	603795.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	29	pfam10601	NULL
9516	210147507	Disease	p.Thr115Asn	603795.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	31	smart00714	NULL
9516	83304387	Disease	p.Trp116Gly	603795.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	30	pfam10601	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Trp116Gly	603795.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	32	smart00714	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Trp116Gly	603795.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	30	pfam10601	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Trp116Gly	603795.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	32	smart00714	210147505,NP_001129944|65787265,NP_004853
9516	210147507	Disease	p.Trp116Gly	603795.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	30	pfam10601	NULL
9516	210147507	Disease	p.Trp116Gly	603795.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	32	smart00714	NULL
9516	83304387	Disease	p.Leu122Val	603795.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	50	pfam10601	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Leu122Val	603795.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	40	smart00714	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Leu122Val	603795.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	50	pfam10601	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Leu122Val	603795.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	40	smart00714	210147505,NP_001129944|65787265,NP_004853
9516	210147507	Disease	p.Leu122Val	603795.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	50	pfam10601	NULL
9516	210147507	Disease	p.Leu122Val	603795.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	40	smart00714	NULL
9516	83304387	Disease	p.Val144Met	603795.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	73	pfam10601	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Val144Met	603795.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	90	smart00714	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Val144Met	603795.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	73	pfam10601	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Val144Met	603795.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	90	smart00714	210147505,NP_001129944|65787265,NP_004853
9516	210147507	Disease	p.Val144Met	603795.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603795	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C	OMIM	103	smart00714	NULL
9401	18206225	Disease	p.Arg1021Trp	603780.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603780	BALLER-GEROLD SYNDROME	OMIM	863	COG0514	284005309,NP_004251
9627	205831000	Disease	p.Arg621Cys	603779.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603779	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	76563940,NP_005451
242	12230234	Disease	p.Leu426Pro	603741.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603741	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1	OMIM	393	pfam00305	4502053,NP_001130
242	12230234	Disease	p.His578Gln	603741.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603741	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1	OMIM	559	pfam00305	4502053,NP_001130
8518	215274166	Disease	p.Arg696Pro	603722.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603722	FAMILIAL DYSAUTONOMIA	OMIM	1325	pfam04762	38569394,NP_003631
8518	215274166	Disease	p.Arg696Pro	603722.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603722	FAMILIAL DYSAUTONOMIA	OMIM	712	COG5290	38569394,NP_003631
8518	215274166	Disease	p.Pro914Leu	603722.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603722	FAMILIAL DYSAUTONOMIA	OMIM	1656	pfam04762	38569394,NP_003631
8518	215274166	Disease	p.Pro914Leu	603722.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603722	FAMILIAL DYSAUTONOMIA	OMIM	947	COG5290	38569394,NP_003631
9247	33301140	Disease	p.Arg47Leu	603716.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603716	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	14	pfam03615	4758420,NP_004743
9247	33301140	Disease	p.Gly63Ser	603716.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603716	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	30	pfam03615	4758420,NP_004743
6496	6094293	Disease	p.Leu226Val	603714.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603714	HOLOPROSENCEPHALY 2	OMIM	20	cd00086	4885597,NP_005404
6496	6094293	Disease	p.Leu226Val	603714.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603714	HOLOPROSENCEPHALY 2	OMIM	20	pfam00046	4885597,NP_005404
6496	6094293	Disease	p.Leu226Val	603714.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603714	HOLOPROSENCEPHALY 2	OMIM	28	smart00389	4885597,NP_005404
6496	6094293	Disease	p.Arg257Pro	603714.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603714	HOLOPROSENCEPHALY 2	OMIM	83	cd00086	4885597,NP_005404
6496	6094293	Disease	p.Arg257Pro	603714.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603714	HOLOPROSENCEPHALY 2	OMIM	61	pfam00046	4885597,NP_005404
6496	6094293	Disease	p.Arg257Pro	603714.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603714	HOLOPROSENCEPHALY 2	OMIM	91	smart00389	4885597,NP_005404
6496	6094293	Disease	p.Val250Ala	603714.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603714	HOLOPROSENCEPHALY 2	OMIM	76	cd00086	4885597,NP_005404
6496	6094293	Disease	p.Val250Ala	603714.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603714	HOLOPROSENCEPHALY 2	OMIM	54	pfam00046	4885597,NP_005404
6496	6094293	Disease	p.Val250Ala	603714.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603714	HOLOPROSENCEPHALY 2	OMIM	84	smart00389	4885597,NP_005404
6496	6094293	Disease	p.Gly69Asp	603714.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603714	HOLOPROSENCEPHALY 2	OMIM	No Domain	N/A	4885597,NP_005404
6496	6094293	Disease	p.Trp113Cys	603714.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603714	HOLOPROSENCEPHALY 2	OMIM	No Domain	N/A	4885597,NP_005404
9420	20141320	Disease	p.Ser363Phe	603711.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603711	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	OMIM	405	pfam00067	4758104,NP_004811
9420	20141320	Disease	p.Ser363Phe	603711.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603711	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	OMIM	405	COG2124	4758104,NP_004811
9420	20141320	Disease	p.Gly57Arg	603711.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603711	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	OMIM	12	pfam00067	4758104,NP_004811
9420	20141320	Disease	p.Gly57Arg	603711.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603711	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	OMIM	20	COG2124	4758104,NP_004811
9420	20141320	Disease	p.Arg417His	603711.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603711	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	OMIM	465	pfam00067	4758104,NP_004811
9420	20141320	Disease	p.Arg417His	603711.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603711	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	OMIM	464	COG2124	4758104,NP_004811
9420	20141320	Disease	p.Phe216Ser	603711.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603711	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	OMIM	213	pfam00067	4758104,NP_004811
9420	20141320	Disease	p.Phe216Ser	603711.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603711	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	OMIM	227	COG2124	4758104,NP_004811
9420	20141320	Disease	p.Phe470Ile	603711.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603711	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	OMIM	526	pfam00067	4758104,NP_004811
9420	20141320	Disease	p.Phe470Ile	603711.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603711	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	OMIM	534	COG2124	4758104,NP_004811
9420	20141320	Disease	p.Arg486Cys	603711.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603711	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	OMIM	542	pfam00067	4758104,NP_004811
9420	20141320	Disease	p.Arg486Cys	603711.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603711	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	OMIM	554	COG2124	4758104,NP_004811
4338	20138899	Disease	p.Glu168Lys	603708.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603708	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B	OMIM	144	COG0314	4758732,NP_004522
4338	20138899	Disease	p.Glu168Lys	603708.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603708	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B	OMIM	158	cd00756	4758732,NP_004522
4338	20138900	Disease	p.Glu168Lys	603708.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603708	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B	OMIM	No Domain	N/A	28631173,NP_789776
4338	20138899	Disease	p.Met1Ile	603708.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603708	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B	OMIM	No Domain	N/A	4758732,NP_004522
4338	20138900	Disease	p.Met1Ile	603708.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603708	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B	OMIM	No Domain	N/A	28631173,NP_789776
4337	22027536	Disease	p.Arg319Gln	603707.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603707	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A	OMIM	299	COG2896	NULL
4337	22027536	Disease	p.Arg319Gln	603707.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603707	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A	OMIM	123	pfam06463	NULL
4337	22027536	Disease	p.Arg319Gln	603707.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603707	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A	OMIM	391	COG0535	NULL
4337	22027536	Disease	p.Arg319Gln	603707.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603707	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A	OMIM	450	COG0641	NULL
4337	116734668	Disease	p.Arg319Gln	603707.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603707	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A	OMIM	299	COG2896	NULL
4337	116734668	Disease	p.Arg319Gln	603707.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603707	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A	OMIM	123	pfam06463	NULL
4337	116734668	Disease	p.Arg319Gln	603707.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603707	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A	OMIM	391	COG0535	NULL
4337	116734668	Disease	p.Arg319Gln	603707.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603707	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A	OMIM	450	COG0641	NULL
4337	22027536	Disease	p.Arg73Trp	603707.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603707	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A	OMIM	14	COG2896	NULL
4337	22027536	Disease	p.Arg73Trp	603707.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603707	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A	OMIM	4	smart00729	NULL
4337	22027536	Disease	p.Arg73Trp	603707.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603707	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A	OMIM	25	COG0535	NULL
4337	22027536	Disease	p.Arg73Trp	603707.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603707	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A	OMIM	35	COG0641	NULL
4337	116734668	Disease	p.Arg73Trp	603707.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603707	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A	OMIM	14	COG2896	NULL
4337	116734668	Disease	p.Arg73Trp	603707.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603707	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A	OMIM	4	smart00729	NULL
4337	116734668	Disease	p.Arg73Trp	603707.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603707	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A	OMIM	80_G	COG5014	NULL
4337	116734668	Disease	p.Arg73Trp	603707.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603707	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A	OMIM	25	COG0535	NULL
4337	116734668	Disease	p.Arg73Trp	603707.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603707	MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A	OMIM	35	COG0641	NULL
6231	51338650	Disease	p.Met1Val	603701.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603701	DIAMOND-BLACKFAN ANEMIA 10	OMIM	No Domain	N/A	15011936,NP_001020
6231	51338650	Disease	p.Met1Leu	603701.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603701	DIAMOND-BLACKFAN ANEMIA 10	OMIM	No Domain	N/A	15011936,NP_001020
6231	51338650	Disease	p.Asp33Asn	603701.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603701	DIAMOND-BLACKFAN ANEMIA 10	OMIM	33	COG4830	15011936,NP_001020
6231	51338650	Disease	p.Asp33Asn	603701.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603701	DIAMOND-BLACKFAN ANEMIA 10	OMIM	35	pfam01283	15011936,NP_001020
23414	126302543	Disease	p.Ser657Gly	603693.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603693	TETRALOGY OF FALLOT	OMIM	No Domain	N/A	223890230,NP_036214
23414	126302543	Disease	p.Glu30Gly	603693.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603693	TETRALOGY OF FALLOT	OMIM	No Domain	N/A	223890230,NP_036214
23414	126302543	Disease	p.Met703Leu	603693.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603693	DIAPHRAGMATIC HERNIA 3	OMIM	No Domain	N/A	223890230,NP_036214
23414	126302543	Disease	p.Thr843Ala	603693.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603693	DIAPHRAGMATIC HERNIA 3	OMIM	No Domain	N/A	223890230,NP_036214
9197	74735319	Disease	p.Ser113Arg	603690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603690	SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	300360496,NP_001177921|4757708,NP_004724
9197	74735319	Disease	p.Ser113Arg	603690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603690	SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	300360496,NP_001177921|4757708,NP_004724
9381	116242695	Disease	p.Pro1825Ala	603681.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	DEAFNESS, AUTOSOMAL RECESSIVE 9	OMIM	278	smart00239	34740331,NP_919224
9381	116242695	Disease	p.Pro1825Ala	603681.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	DEAFNESS, AUTOSOMAL RECESSIVE 9	OMIM	130	cd08374	34740331,NP_919224
9381	35493853	Disease	p.Pro1825Ala	603681.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	DEAFNESS, AUTOSOMAL RECESSIVE 9	OMIM	No Domain	N/A	NULL
9381	35493860	Disease	p.Pro1825Ala	603681.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	DEAFNESS, AUTOSOMAL RECESSIVE 9	OMIM	No Domain	N/A	NULL
9381	35493868	Disease	p.Pro1825Ala	603681.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	DEAFNESS, AUTOSOMAL RECESSIVE 9	OMIM	No Domain	N/A	NULL
9381	116242695	Disease	p.Pro50Arg	603681.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	52	cd08373	34740331,NP_919224
9381	116242695	Disease	p.Pro50Arg	603681.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	208	cd00030	34740331,NP_919224
9381	35493853	Disease	p.Pro50Arg	603681.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	No Domain	N/A	NULL
9381	35493860	Disease	p.Pro50Arg	603681.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	No Domain	N/A	NULL
9381	35493868	Disease	p.Pro50Arg	603681.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	No Domain	N/A	NULL
9381	116242695	Disease	p.Leu1011Pro	603681.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	55	cd08675	34740331,NP_919224
9381	116242695	Disease	p.Leu1011Pro	603681.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	206	cd00030	34740331,NP_919224
9381	116242695	Disease	p.Leu1011Pro	603681.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	132	pfam00168	34740331,NP_919224
9381	116242695	Disease	p.Leu1011Pro	603681.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	51	cd04025	34740331,NP_919224
9381	116242695	Disease	p.Leu1011Pro	603681.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	239	smart00239	34740331,NP_919224
9381	116242695	Disease	p.Leu1011Pro	603681.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	86	cd04017	34740331,NP_919224
9381	35493853	Disease	p.Leu1011Pro	603681.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	No Domain	N/A	NULL
9381	35493860	Disease	p.Leu1011Pro	603681.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	211	smart00239	NULL
9381	35493860	Disease	p.Leu1011Pro	603681.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	63	cd08374	NULL
9381	35493868	Disease	p.Leu1011Pro	603681.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	211	smart00239	NULL
9381	35493868	Disease	p.Leu1011Pro	603681.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	63	cd08374	NULL
9381	116242695	Disease	p.Ile515Thr	603681.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	392	cd00030	34740331,NP_919224
9381	116242695	Disease	p.Ile515Thr	603681.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	104	cd04018	34740331,NP_919224
9381	116242695	Disease	p.Ile515Thr	603681.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	334	smart00239	34740331,NP_919224
9381	35493853	Disease	p.Ile515Thr	603681.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	No Domain	N/A	NULL
9381	35493860	Disease	p.Ile515Thr	603681.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	No Domain	N/A	NULL
9381	35493868	Disease	p.Ile515Thr	603681.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603681	AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1	OMIM	No Domain	N/A	NULL
8643	12643356	Disease	p.Arg719Gln	603673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603673	BASAL CELL NEVUS SYNDROME	OMIM	652	pfam02460	52145305,NP_003729
8643	261823993	Disease	p.Arg719Gln	603673.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603673	BASAL CELL NEVUS SYNDROME	OMIM	652	pfam02460	NULL
8604	206729858	Disease	p.Gln590Arg	603667.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603667	HYPOMYELINATION, GLOBAL CEREBRAL	OMIM	129	pfam00153	21361103,NP_003696
7225	6686048	Disease	p.Pro112Gln	603652.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603652	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2	OMIM	45	cd00204	5730102,NP_004612
7225	6686048	Disease	p.Asn143Ser	603652.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603652	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2	OMIM	121	cd00204	5730102,NP_004612
7225	6686048	Disease	p.Ser270Thr	603652.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603652	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2	OMIM	18	pfam08344	5730102,NP_004612
7225	6686048	Disease	p.Arg895Cys	603652.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603652	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2	OMIM	No Domain	N/A	5730102,NP_004612
7225	6686048	Disease	p.Glu897Lys	603652.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603652	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2	OMIM	No Domain	N/A	5730102,NP_004612
129880	74750959	Disease	p.Gly72Ser	603650.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603650	BARDET-BIEDL SYNDROME 5	OMIM	70	pfam07289	22748823,NP_689597
129880	74750959	Disease	p.Gly72Ser	603650.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603650	BARDET-BIEDL SYNDROME 5	OMIM	45	smart00683	22748823,NP_689597
129880	74750959	Disease	p.Thr183Ala	603650.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603650	BARDET-BIEDL SYNDROME 5	OMIM	26	smart00683	22748823,NP_689597
129880	74750959	Disease	p.Thr183Ala	603650.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603650	BARDET-BIEDL SYNDROME 5	OMIM	226	pfam07289	22748823,NP_689597
617	46397351	Disease	p.Ser277Asn	603647.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	367	cd00009	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Ser277Asn	603647.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	132	pfam00004	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Ser277Asn	603647.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	307	smart00382	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Ser277Asn	603647.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	367	cd00009	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Ser277Asn	603647.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	132	pfam00004	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Ser277Asn	603647.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	307	smart00382	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Pro99Leu	603647.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	276	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Pro99Leu	603647.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	276	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Arg155Pro	603647.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	375	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Arg155Pro	603647.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	375	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Val353Met	603647.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	522	cd00009	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Val353Met	603647.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	242	pfam00004	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Val353Met	603647.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	672	smart00382	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Val353Met	603647.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	522	cd00009	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Val353Met	603647.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	242	pfam00004	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Val353Met	603647.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	672	smart00382	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Ser78Gly	603647.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	GRACILE SYNDROME	OMIM	209	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Ser78Gly	603647.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	GRACILE SYNDROME	OMIM	209	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Arg45Cys	603647.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	34	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Arg45Cys	603647.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	34	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Arg183His	603647.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	BJORNSTAD SYNDROME	OMIM	424	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Arg183His	603647.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	BJORNSTAD SYNDROME	OMIM	424	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Arg184Cys	603647.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY||MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	425	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Arg184Cys	603647.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY||MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	425	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Gly35Arg	603647.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	18	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Gly35Arg	603647.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	18	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Thr50Ala	603647.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	39	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Thr50Ala	603647.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	39	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Arg183Cys	603647.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	424	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Arg183Cys	603647.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603647	MITOCHONDRIAL COMPLEX III DEFICIENCY	OMIM	424	pfam08740	4757852,NP_004319|119964730,NP_001073335
1355	51315906	Disease	p.Arg217Trp	603646.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603646	CARDIOMYOPATHY, HYPERTROPHIC, EARLY-ONSET FATAL||LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY DEFICIENCY	OMIM	208	COG1612	17921985,NP_510870
1355	51315906	Disease	p.Arg217Trp	603646.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603646	CARDIOMYOPATHY, HYPERTROPHIC, EARLY-ONSET FATAL||LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY DEFICIENCY	OMIM	267	pfam02628	17921985,NP_510870
1355	17921987	Disease	p.Arg217Trp	603646.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603646	CARDIOMYOPATHY, HYPERTROPHIC, EARLY-ONSET FATAL||LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY DEFICIENCY	OMIM	208	COG1612	NULL
1355	17921987	Disease	p.Arg217Trp	603646.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603646	CARDIOMYOPATHY, HYPERTROPHIC, EARLY-ONSET FATAL||LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY DEFICIENCY	OMIM	267	pfam02628	NULL
6341	8134663	Disease	p.Pro174Leu	603644.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603644	HEPATIC FAILURE, EARLY-ONSET, AND NEUROLOGIC DISORDER DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	102	COG1999	4759068,NP_004580
6341	8134663	Disease	p.Pro174Leu	603644.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603644	HEPATIC FAILURE, EARLY-ONSET, AND NEUROLOGIC DISORDER DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	47	cd02968	4759068,NP_004580
6341	8134663	Disease	p.Pro174Leu	603644.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603644	HEPATIC FAILURE, EARLY-ONSET, AND NEUROLOGIC DISORDER DUE TO CYTOCHROME c OXIDASE DEFICIENCY	OMIM	59	pfam02630	4759068,NP_004580
6125	81175191	Disease	p.Gly140Ser	603634.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603634	DIAMOND-BLACKFAN ANEMIA 6	OMIM	116	pfam00861	14591909,NP_000960
6125	81175191	Disease	p.Gly140Ser	603634.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603634	DIAMOND-BLACKFAN ANEMIA 6	OMIM	152	cd00432	14591909,NP_000960
6125	81175191	Disease	p.Gly140Ser	603634.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603634	DIAMOND-BLACKFAN ANEMIA 6	OMIM	128	COG0256	14591909,NP_000960
6204	1173177	Disease	p.Met1Ile	603632.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603632	DIAMOND-BLACKFAN ANEMIA 9	OMIM	No Domain	N/A	4506679,NP_001005
8565	13638438	Disease	p.Gly41Arg	603623.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603623	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C	OMIM	6	cd00805	4507947,NP_003671
8565	13638438	Disease	p.Gly41Arg	603623.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603623	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C	OMIM	49	COG0162	4507947,NP_003671
8565	13638438	Disease	p.Gly41Arg	603623.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603623	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C	OMIM	11	COG0180	4507947,NP_003671
8565	13638438	Disease	p.Gly41Arg	603623.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603623	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C	OMIM	5	cd00806	4507947,NP_003671
8565	13638438	Disease	p.Gly41Arg	603623.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603623	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C	OMIM	12	pfam00579	4507947,NP_003671
8565	13638438	Disease	p.Glu196Lys	603623.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603623	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C	OMIM	192	cd00805	4507947,NP_003671
8565	13638438	Disease	p.Glu196Lys	603623.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603623	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C	OMIM	239	COG0162	4507947,NP_003671
8565	13638438	Disease	p.Glu196Lys	603623.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603623	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C	OMIM	401_G	COG0180	4507947,NP_003671
8565	13638438	Disease	p.Glu196Lys	603623.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603623	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C	OMIM	304	cd00806	4507947,NP_003671
8565	13638438	Disease	p.Glu196Lys	603623.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603623	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C	OMIM	223	pfam00579	4507947,NP_003671
8398	52486251	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	290	cd07199	NULL
8398	52486251	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	127	cd07212	NULL
8398	52486251	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	351	cd07207	NULL
8398	52486251	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	281	cd07216	NULL
8398	52486251	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	140_G	cd07215	NULL
8398	52486251	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	139	cd07217	NULL
8398	52486251	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	238	cd07211	NULL
8398	52486251	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	459	pfam01734	NULL
8398	52486251	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	213	cd07214	NULL
8398	52486251	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	153	cd07213	NULL
8398	52486251	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	155	COG3621	NULL
8398	6685712	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	76	cd07217	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	87	cd07215	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	99	COG3621	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	103	cd07211	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	67	cd07212	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	105	cd07199	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	74	cd07207	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	81	cd07213	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	157	pfam01734	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	93	cd07214	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	603604.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	94	cd07216	52486194,NP_003551
8398	52486251	Disease	p.Val310Glu	603604.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A	OMIM	57	cd00204	NULL
8398	52486251	Disease	p.Val310Glu	603604.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A	OMIM	292	COG0666	NULL
8398	6685712	Disease	p.Val310Glu	603604.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A	OMIM	57	cd00204	52486194,NP_003551
8398	6685712	Disease	p.Val310Glu	603604.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A	OMIM	292	COG0666	52486194,NP_003551
8398	52486251	Disease	p.Arg632Trp	603604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	KARAK SYNDROME	OMIM	426	cd07199	NULL
8398	52486251	Disease	p.Arg632Trp	603604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	KARAK SYNDROME	OMIM	232	cd07212	NULL
8398	52486251	Disease	p.Arg632Trp	603604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	KARAK SYNDROME	OMIM	379_G	cd07216	NULL
8398	52486251	Disease	p.Arg632Trp	603604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	KARAK SYNDROME	OMIM	226	cd07215	NULL
8398	52486251	Disease	p.Arg632Trp	603604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	KARAK SYNDROME	OMIM	245_G	cd07217	NULL
8398	52486251	Disease	p.Arg632Trp	603604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	KARAK SYNDROME	OMIM	451	cd07211	NULL
8398	52486251	Disease	p.Arg632Trp	603604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	KARAK SYNDROME	OMIM	307	cd07214	NULL
8398	52486251	Disease	p.Arg632Trp	603604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	KARAK SYNDROME	OMIM	266	cd07213	NULL
8398	52486251	Disease	p.Arg632Trp	603604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	KARAK SYNDROME	OMIM	256	COG3621	NULL
8398	6685712	Disease	p.Arg632Trp	603604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	KARAK SYNDROME	OMIM	179	cd07217	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	603604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	KARAK SYNDROME	OMIM	168	cd07215	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	603604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	KARAK SYNDROME	OMIM	180	COG3621	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	603604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	KARAK SYNDROME	OMIM	400	cd07211	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	603604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	KARAK SYNDROME	OMIM	171	cd07212	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	603604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	KARAK SYNDROME	OMIM	333	cd07199	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	603604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	KARAK SYNDROME	OMIM	387	cd07207	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	603604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	KARAK SYNDROME	OMIM	198	cd07213	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	603604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	KARAK SYNDROME	OMIM	505	pfam01734	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	603604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	KARAK SYNDROME	OMIM	230_G	cd07214	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	603604.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	KARAK SYNDROME	OMIM	311	cd07216	52486194,NP_003551
8398	52486251	Disease	p.Ala80Thr	603604.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	No Domain	N/A	NULL
8398	6685712	Disease	p.Ala80Thr	603604.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	OMIM	No Domain	N/A	52486194,NP_003551
8398	52486251	Disease	p.Arg741Gln	603604.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	337	cd07215	NULL
8398	52486251	Disease	p.Arg741Gln	603604.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	379	cd07217	NULL
8398	52486251	Disease	p.Arg741Gln	603604.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	441	COG3621	NULL
8398	6685712	Disease	p.Arg741Gln	603604.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	307	cd07217	52486194,NP_003551
8398	6685712	Disease	p.Arg741Gln	603604.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	274	cd07215	52486194,NP_003551
8398	6685712	Disease	p.Arg741Gln	603604.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	318	COG3621	52486194,NP_003551
8398	6685712	Disease	p.Arg741Gln	603604.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	550_G	cd07211	52486194,NP_003551
8398	6685712	Disease	p.Arg741Gln	603604.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	291	cd07212	52486194,NP_003551
8398	6685712	Disease	p.Arg741Gln	603604.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	514	cd07199	52486194,NP_003551
8398	6685712	Disease	p.Arg741Gln	603604.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	330_G	cd07213	52486194,NP_003551
8398	6685712	Disease	p.Arg741Gln	603604.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	353_G	cd07214	52486194,NP_003551
8398	6685712	Disease	p.Arg741Gln	603604.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	428	cd07216	52486194,NP_003551
8398	52486251	Disease	p.Arg747Trp	603604.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	343	cd07215	NULL
8398	52486251	Disease	p.Arg747Trp	603604.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	466	COG3621	NULL
8398	6685712	Disease	p.Arg747Trp	603604.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	320	cd07217	52486194,NP_003551
8398	6685712	Disease	p.Arg747Trp	603604.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	280	cd07215	52486194,NP_003551
8398	6685712	Disease	p.Arg747Trp	603604.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	324	COG3621	52486194,NP_003551
8398	6685712	Disease	p.Arg747Trp	603604.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	555_G	cd07211	52486194,NP_003551
8398	6685712	Disease	p.Arg747Trp	603604.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	297	cd07212	52486194,NP_003551
8398	6685712	Disease	p.Arg747Trp	603604.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	520	cd07199	52486194,NP_003551
8398	6685712	Disease	p.Arg747Trp	603604.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	336	cd07213	52486194,NP_003551
8398	6685712	Disease	p.Arg747Trp	603604.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	354	cd07214	52486194,NP_003551
8398	6685712	Disease	p.Arg747Trp	603604.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603604	PARKINSON DISEASE 14	OMIM	434	cd07216	52486194,NP_003551
9056	12643378	Disease	p.Met1Leu	603593.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	No Domain	N/A	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Met1Leu	603593.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	No Domain	N/A	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Met1Leu	603593.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	No Domain	N/A	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu334Arg	603593.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	413	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu334Arg	603593.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	487	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu334Arg	603593.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	698	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu334Arg	603593.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	343	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu334Arg	603593.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	413	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu334Arg	603593.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	487	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu334Arg	603593.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	698	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu334Arg	603593.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	343	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu334Arg	603593.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	413	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu334Arg	603593.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	487	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu334Arg	603593.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	698	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu334Arg	603593.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	343	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Gly54Val	603593.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	16	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Gly54Val	603593.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	102	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Gly54Val	603593.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	42	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Gly54Val	603593.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	32	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Gly54Val	603593.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	16	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Gly54Val	603593.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	102	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Gly54Val	603593.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	42	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Gly54Val	603593.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	32	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Gly54Val	603593.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	16	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Gly54Val	603593.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	102	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Gly54Val	603593.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	42	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Gly54Val	603593.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603593	LYSINURIC PROTEIN INTOLERANCE	OMIM	32	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9215	22001684	Disease	p.Glu509Lys	603590.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603590	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	OMIM	No Domain	N/A	4758664,NP_004728|19924141,NP_598397
9215	22001684	Disease	p.Glu509Lys	603590.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603590	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	OMIM	No Domain	N/A	4758664,NP_004728|19924141,NP_598397
9215	22001684	Disease	p.Trp495Arg	603590.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603590	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6	OMIM	No Domain	N/A	4758664,NP_004728|19924141,NP_598397
9215	22001684	Disease	p.Trp495Arg	603590.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603590	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6	OMIM	No Domain	N/A	4758664,NP_004728|19924141,NP_598397
9215	22001684	Disease	p.Ser331Phe	603590.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603590	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6	OMIM	275_G	COG1442	4758664,NP_004728|19924141,NP_598397
9215	22001684	Disease	p.Ser331Phe	603590.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603590	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6	OMIM	204	cd06430	4758664,NP_004728|19924141,NP_598397
9215	22001684	Disease	p.Ser331Phe	603590.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603590	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6	OMIM	281	cd00505	4758664,NP_004728|19924141,NP_598397
9215	22001684	Disease	p.Ser331Phe	603590.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603590	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6	OMIM	195	cd06431	4758664,NP_004728|19924141,NP_598397
9215	22001684	Disease	p.Ser331Phe	603590.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603590	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6	OMIM	335	pfam01501	4758664,NP_004728|19924141,NP_598397
9215	22001684	Disease	p.Ser331Phe	603590.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603590	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6	OMIM	302	cd04194	4758664,NP_004728|19924141,NP_598397
9215	22001684	Disease	p.Ser331Phe	603590.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603590	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6	OMIM	275_G	COG1442	4758664,NP_004728|19924141,NP_598397
9215	22001684	Disease	p.Ser331Phe	603590.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603590	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6	OMIM	204	cd06430	4758664,NP_004728|19924141,NP_598397
9215	22001684	Disease	p.Ser331Phe	603590.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603590	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6	OMIM	281	cd00505	4758664,NP_004728|19924141,NP_598397
9215	22001684	Disease	p.Ser331Phe	603590.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603590	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6	OMIM	195	cd06431	4758664,NP_004728|19924141,NP_598397
9215	22001684	Disease	p.Ser331Phe	603590.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603590	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6	OMIM	335	pfam01501	4758664,NP_004728|19924141,NP_598397
9215	22001684	Disease	p.Ser331Phe	603590.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603590	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6	OMIM	302	cd04194	4758664,NP_004728|19924141,NP_598397
4308	182701419	Disease	p.Leu99Pro	603576.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603576	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C	OMIM	No Domain	N/A	94538366,NP_002411
4308	182701419	Disease	p.Pro611His	603576.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603576	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C	OMIM	No Domain	N/A	94538366,NP_002411
9132	26638655	Disease	p.Gly285Ser	603537.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	55	pfam07885	NULL
9132	26638655	Disease	p.Gly285Ser	603537.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	343	pfam00520	NULL
9132	259016259	Disease	p.Gly285Ser	603537.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	55	pfam07885	26638653,NP_004691
9132	259016259	Disease	p.Gly285Ser	603537.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	343	pfam00520	26638653,NP_004691
9132	26638655	Disease	p.Trp276Ser	603537.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	46	pfam07885	NULL
9132	26638655	Disease	p.Trp276Ser	603537.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	334	pfam00520	NULL
9132	259016259	Disease	p.Trp276Ser	603537.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	46	pfam07885	26638653,NP_004691
9132	259016259	Disease	p.Trp276Ser	603537.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	334	pfam00520	26638653,NP_004691
9132	26638655	Disease	p.Gly321Ser	603537.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	No Domain	N/A	NULL
9132	259016259	Disease	p.Gly321Ser	603537.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	No Domain	N/A	26638653,NP_004691
9132	26638655	Disease	p.Gly285Cys	603537.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	55	pfam07885	NULL
9132	26638655	Disease	p.Gly285Cys	603537.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	343	pfam00520	NULL
9132	259016259	Disease	p.Gly285Cys	603537.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	55	pfam07885	26638653,NP_004691
9132	259016259	Disease	p.Gly285Cys	603537.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	343	pfam00520	26638653,NP_004691
9132	26638655	Disease	p.Leu281Ser	603537.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	51	pfam07885	NULL
9132	26638655	Disease	p.Leu281Ser	603537.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	339	pfam00520	NULL
9132	259016259	Disease	p.Leu281Ser	603537.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	51	pfam07885	26638653,NP_004691
9132	259016259	Disease	p.Leu281Ser	603537.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	339	pfam00520	26638653,NP_004691
9132	26638655	Disease	p.Leu274His	603537.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	44	pfam07885	NULL
9132	26638655	Disease	p.Leu274His	603537.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	332	pfam00520	NULL
9132	259016259	Disease	p.Leu274His	603537.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	44	pfam07885	26638653,NP_004691
9132	259016259	Disease	p.Leu274His	603537.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	332	pfam00520	26638653,NP_004691
9132	26638655	Disease	p.Gly296Ser	603537.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	70	pfam07885	NULL
9132	26638655	Disease	p.Gly296Ser	603537.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	384	pfam00520	NULL
9132	259016259	Disease	p.Gly296Ser	603537.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	70	pfam07885	26638653,NP_004691
9132	259016259	Disease	p.Gly296Ser	603537.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603537	DEAFNESS, AUTOSOMAL DOMINANT 2A	OMIM	384	pfam00520	26638653,NP_004691
4040	148727288	Disease	p.Arg611Cys	603507.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603507	CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2	OMIM	34	pfam00008	NULL
4040	148727288	Disease	p.Arg611Cys	603507.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603507	CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2	OMIM	49	smart00181	NULL
4040	148727288	Disease	p.Arg611Cys	603507.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603507	CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2	OMIM	50	cd00053	NULL
4041	62512139	Disease	p.Gly171Val	603506.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	HIGH BONE MASS	OMIM	9	pfam00058	119709832,NP_002326
4041	62512139	Disease	p.Gly171Val	603506.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	HIGH BONE MASS	OMIM	37	smart00135	119709832,NP_002326
4041	62512139	Disease	p.Gly171Arg	603506.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	OSTEOPETROSIS, AUTOSOMAL DOMINANT 1	OMIM	9	pfam00058	119709832,NP_002326
4041	62512139	Disease	p.Gly171Arg	603506.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	OSTEOPETROSIS, AUTOSOMAL DOMINANT 1	OMIM	37	smart00135	119709832,NP_002326
4041	62512139	Disease	p.Ala242Thr	603506.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT||OSTEOPETROSIS, AUTOSOMAL DOMINANT 1||VAN BUCHEM DISEASE, TYPE 2	OMIM	17	smart00135	119709832,NP_002326
4041	62512139	Disease	p.Ala242Thr	603506.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT||OSTEOPETROSIS, AUTOSOMAL DOMINANT 1||VAN BUCHEM DISEASE, TYPE 2	OMIM	52	pfam00058	119709832,NP_002326
4041	62512139	Disease	p.Ala214Thr	603506.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT	OMIM	32	smart00135	119709832,NP_002326
4041	62512139	Disease	p.Ala214Thr	603506.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT	OMIM	8	pfam00058	119709832,NP_002326
4041	62512139	Disease	p.Ala214Val	603506.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	OSTEOSCLEROSIS, AUTOSOMAL DOMINANT	OMIM	32	smart00135	119709832,NP_002326
4041	62512139	Disease	p.Ala214Val	603506.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	OSTEOSCLEROSIS, AUTOSOMAL DOMINANT	OMIM	8	pfam00058	119709832,NP_002326
4041	62512139	Disease	p.Thr253Ile	603506.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	OSTEOPETROSIS, AUTOSOMAL DOMINANT 1	OMIM	30	smart00135	119709832,NP_002326
4041	62512139	Disease	p.Arg570Gln	603506.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE	OMIM	53	smart00135	119709832,NP_002326
4041	62512139	Disease	p.Arg752Gly	603506.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE	OMIM	31	pfam00058	119709832,NP_002326
4041	62512139	Disease	p.Glu1367Lys	603506.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE	OMIM	55	pfam00057	119709832,NP_002326
4041	62512139	Disease	p.Glu1367Lys	603506.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE	OMIM	70	cd00112	119709832,NP_002326
4041	62512139	Disease	p.Leu145Phe	603506.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL DOMINANT	OMIM	34	pfam00058	119709832,NP_002326
4041	62512139	Disease	p.Leu145Phe	603506.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL DOMINANT	OMIM	3	smart00135	119709832,NP_002326
4041	62512139	Disease	p.Arg444Cys	603506.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	EXUDATIVE VITREORETINOPATHY 4, DIGENIC	OMIM	22	pfam00058	119709832,NP_002326
4041	62512139	Disease	p.Arg444Cys	603506.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	EXUDATIVE VITREORETINOPATHY 4, DIGENIC	OMIM	55	smart00135	119709832,NP_002326
4041	62512139	Disease	p.Gly610Arg	603506.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE	OMIM	15	smart00181	119709832,NP_002326
4041	62512139	Disease	p.Gly610Arg	603506.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE	OMIM	17	cd00053	119709832,NP_002326
4041	62512139	Disease	p.Gly610Arg	603506.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603506	EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE	OMIM	8	pfam00008	119709832,NP_002326
8813	20137697	Disease	p.Arg92Gly	603503.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603503	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie	OMIM	73	cd04196	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	603503.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603503	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie	OMIM	103	pfam00535	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	603503.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603503	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie	OMIM	100	cd06433	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	603503.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603503	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie	OMIM	63	cd02511	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	603503.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603503	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie	OMIM	78	cd02525	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	603503.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603503	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie	OMIM	232	COG0463	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	603503.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603503	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie	OMIM	116	cd04188	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	603503.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603503	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie	OMIM	79_G	cd04187	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	603503.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603503	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie	OMIM	65	cd04192	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	603503.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603503	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie	OMIM	153	cd04179	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	603503.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603503	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie	OMIM	121	cd06423	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	603503.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603503	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie	OMIM	141	cd00761	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	603503.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603503	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie	OMIM	88_G	cd04186	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	603503.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603503	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie	OMIM	76	cd06442	4503363,NP_003850
8792	19924309	Disease	p.Arg170Gly	603499.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603499	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7	OMIM	20	smart00208	4507565,NP_003830
8792	19924309	Disease	p.Cys175Arg	603499.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603499	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7	OMIM	28	smart00208	4507565,NP_003830
8792	19924309	Disease	p.Arg129Cys	603499.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603499	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7	OMIM	116	cd00185	4507565,NP_003830
8792	19924309	Disease	p.Arg129Cys	603499.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603499	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7	OMIM	24	smart00208	4507565,NP_003830
8792	19924309	Disease	p.Ala244Ser	603499.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603499	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7	OMIM	No Domain	N/A	4507565,NP_003830
8792	19924309	Disease	p.Gly53Arg	603499.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603499	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7	OMIM	24	cd00185	4507565,NP_003830
8792	19924309	Disease	p.Gly53Arg	603499.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603499	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7	OMIM	33	smart00208	4507565,NP_003830
8792	19924309	Disease	p.Gly53Arg	603499.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603499	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7	OMIM	33	pfam00020	4507565,NP_003830
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214	cd07845	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	208	cd07877	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	199	cd06646	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	204	cd06607	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	205	cd06644	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	213	cd06618	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	204	cd06634	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	229	cd05101	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	216	cd06636	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	205	cd06656	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	210	cd06633	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	205	cd06647	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	206	cd06648	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	238	cd05596	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	226	cd05099	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	206	cd06657	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	207	cd06659	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	206	cd06654	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	203	cd05042	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	203	cd08216	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	230	cd06639	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	211	cd07850	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	244	cd06614	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	206	cd07880	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	247	cd07865	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	193	cd05059	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	208	cd05089	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	219	cd07852	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	196	cd08228	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	243	cd06608	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	196	cd08229	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	197	cd08224	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	208	cd06658	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	219	cd06638	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	187	cd05586	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	183	cd05585	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	675	cd00180	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	191	cd05577	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	187	cd05606	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	187	cd05608	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	185	cd05607	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	186	cd05633	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	201	cd05047	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	188	cd05115	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	734	cd05579	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	802	cd05123	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	185	cd05085	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	204	cd06917	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	261	cd05572	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	205	cd06655	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	255	cd05057	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	206	cd07878	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	226	cd07851	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	201	cd05108	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	213	cd05088	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	199	cd06645	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	201	cd05109	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	201	cd05111	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	181	smart00750	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	784	smart00220	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	382	cd05611	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214	cd06635	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	211	cd05613	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	199	cd05583	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	191	cd05616	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	196	cd05587	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	191	cd05615	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	197	cd05614	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	203	cd07859	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	279	cd07834	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	196	cd07853	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	208	cd07857	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	262	cd05051	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	219	cd05045	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	199	cd06651	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	191	cd05630	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	228	cd07841	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	191	cd05632	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	191	cd05631	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	191	cd05605	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	213	cd07832	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	199	cd06630	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	235	cd05122	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	196	cd08222	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	193	cd07861	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	196	cd08529	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	190	cd08219	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	263	cd08217	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	198	cd08530	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	200	cd07863	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	235	cd06627	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	259	cd08215	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	201	cd05578	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	194	cd07836	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	200	cd08220	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	336	cd06606	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	200	cd06631	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	346	cd07842	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	206	cd06628	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	194	cd08221	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	191	cd08218	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	192	cd08225	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	192	cd08223	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	191	cd07860	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	190	cd07839	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	213	cd08528	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	194	cd05584	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	216	cd06632	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	237	cd06626	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	212	cd07876	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	232	cd05098	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	237	cd05622	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	195	cd07872	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	195	cd07873	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	201	cd05063	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	199	cd06613	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	194	cd07869	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	196	cd07856	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	195	cd07844	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	194	cd07871	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	194	cd07870	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	240	cd07866	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214	cd07843	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	206	cd06637	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214	cd05036	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	206	cd06624	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	229	cd05056	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	215	cd06622	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	249	cd06623	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214	cd06605	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	191	cd06642	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	198	cd05623	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	335	cd05573	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	198	cd06617	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	226	cd05628	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	259	cd05600	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	202	cd05601	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	188	cd05612	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	200	cd05597	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	226	cd05627	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	198	cd05624	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	252	cd05629	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	251	cd05598	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	207	cd05609	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	238	cd05626	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	204	cd06619	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	253	cd05580	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	200	cd06611	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	190	cd06615	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	196	cd05148	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	204	cd05034	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	916	COG0515	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	191	cd06640	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	215	cd07849	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	221	cd06609	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	191	cd06641	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	210	cd07837	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	223	cd06652	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	220	cd07848	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	210	cd06612	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214	cd06610	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	250	cd07833	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	441	cd05581	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	199	cd06653	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	200	cd06625	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	198	cd07847	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	193	cd07846	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	200	cd07862	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	225	cd05050	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	287	cd05574	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	199	cd06621	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	405	cd05599	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	186	cd05594	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	201	cd05620	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	202	cd05592	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	188	cd05570	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	186	cd05590	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	199	cd05086	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	186	cd05618	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	185	cd05595	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	186	cd05602	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	188	cd05582	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	186	cd05603	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	186	cd05588	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	186	cd05617	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	186	cd05575	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	186	cd05604	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	186	cd05591	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	186	cd05619	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	186	cd05571	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	185	cd05593	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	197	cd05078	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	428	cd00192	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	221	cd05037	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	188	cd05041	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	188	cd05116	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	186	cd05084	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	203	cd05040	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	197	cd07831	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	195	cd05060	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	199	cd05058	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	209	cd05044	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	237	cd05043	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	196	cd05039	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	187	cd05083	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	198	cd06643	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	196	cd06620	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	242	cd05053	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	199	cd05066	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	201	cd05065	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	208	cd06616	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	234	cd07855	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	192	cd05113	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	191	cd05114	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	191	cd05112	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	256	cd05032	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	235	cd05033	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	277	cd05046	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	212	cd05093	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	193	cd05067	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	204	cd07858	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	194	cd05073	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	194	cd05072	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	193	cd05070	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	212	cd05061	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	222	cd05094	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	192	cd06649	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	189	cd05082	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	195	cd05052	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	199	cd05068	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214	cd05092	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	192	cd06650	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	216	cd05090	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	219	cd05048	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	216	cd05091	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	211	cd07864	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	224	cd05049	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	211	cd05062	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	199	cd05064	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	580	smart00219	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	200	cd05080	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	191	cd05589	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	201	cd05081	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	387	pfam07714	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	215	cd05035	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	221	cd07854	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	202	cd05079	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	219	cd05075	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	193	cd05069	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	205	cd05074	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	228	cd05038	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	206	cd07868	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	206	cd07867	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	290	cd07840	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	237	cd07838	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	206	cd06629	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	266	cd07830	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	203	cd05118	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	245	cd07829	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	856	smart00221	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	218	cd07835	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	342	pfam00069	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	193	cd05071	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	238	cd05625	62865639,NP_001015878
6795	27805738	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	237	cd05621	62865639,NP_001015878
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	246	cd05099	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	217	cd08228	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	262	cd06608	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214	cd08229	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	219	cd08224	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	213	cd05059	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	263	cd07852	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	228	cd05089	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	231_G	cd06636	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	249	cd05101	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	249	cd05056	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	225	cd06637	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	234	cd05036	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	227	cd06624	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	257	cd05596	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	256	cd05622	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	226	cd06659	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	256	cd05621	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	239	cd07848	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	226	cd06612	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	233	cd06610	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	288	cd07833	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	463	cd05581	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	215	cd06653	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	216	cd06625	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	246	cd07847	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	237	cd07846	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	219	cd07862	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	245	cd05050	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	235	cd06619	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	248	cd05148	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	992	COG0515	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	206_G	cd06640	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	250	cd07849	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	235	cd06609	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	205	cd06641	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	222	cd06621	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	424	cd05599	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	274	cd06623	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	278	cd06605	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	274	cd05580	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	216	cd06611	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	213	cd06615	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	223_G	cd05034	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	306	cd05574	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	229	cd07837	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	239	cd06652	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	237	cd06622	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	210	cd06642	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	217	cd05623	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	356	cd05573	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	215	cd06617	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	245	cd05628	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	278	cd05600	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	221	cd05601	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	207	cd05612	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	219	cd05597	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	245	cd05627	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	217	cd05624	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	271	cd05629	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	270	cd05598	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	226	cd05609	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	257	cd05626	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	238	cd06638	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	225	cd06657	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	227	cd06658	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	230	cd06633	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	263	cd07864	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	244	cd05049	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	231	cd05062	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214	cd05073	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214	cd05072	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	216	cd05070	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	209	cd05082	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	215	cd05052	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	219	cd05068	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	228	cd06650	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	234	cd05092	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	239	cd05048	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	236	cd05091	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	232	cd05093	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	231	cd06649	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	232	cd05061	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	236	cd05090	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	218_G	cd05064	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	295	cd05094	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	221	cd05067	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	250	cd07858	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	830	cd05123	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	205	cd05085	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	694	cd00180	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	208	cd05633	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	221	cd05047	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	220	cd06917	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	768	cd05579	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214	cd05577	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	209	cd05606	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	210	cd05608	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	208	cd05607	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	208	cd05115	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	287	cd05572	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	206	cd05586	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	202	cd05585	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	232	cd08528	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	215	cd08222	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	212	cd07861	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	218	cd08529	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	209	cd08219	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	283	cd08217	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	217	cd08530	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	219	cd07863	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	255	cd06627	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	281	cd08215	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	223	cd05578	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	213	cd07836	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	219	cd08220	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	363	cd06606	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	219	cd06631	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	379	cd07842	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	225	cd06628	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	213	cd08221	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	210	cd08218	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	211	cd08225	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	212	cd08223	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	210	cd07860	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	210	cd07839	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	253	cd07857	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	299	cd05051	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	239	cd05045	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	215	cd06651	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214	cd05630	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	272	cd07841	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214	cd05632	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214	cd05631	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214	cd05605	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	293	cd05122	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	234	cd05613	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	222	cd05583	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	234	cd07832	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	218	cd06630	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	210	cd05616	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	215	cd05587	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	210	cd05615	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	220	cd05614	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	245	cd07859	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	358	cd07834	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	247	cd07853	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	224	cd06656	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	232	cd05111	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	218	cd06645	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	220	cd05109	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	225	cd07878	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	245	cd07851	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	227	cd05108	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	233	cd05088	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	274_G	cd05057	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	245	cd06634	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	224	cd06607	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	224	cd06644	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	233	cd06618	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	401	cd05611	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	233	cd06632	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	260	cd06626	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	213	cd05584	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	243	cd08216	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	223	cd05042	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	229	cd05044	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	208	cd05116	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	206	cd05084	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	223	cd05040	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	236	cd07831	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214_G	cd05060	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	208	cd05041	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	205	cd05594	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	220	cd05620	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	221	cd05592	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	216	cd05570	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	205	cd05590	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	219	cd05058	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214	cd05078	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	462	cd00192	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	244	cd05037	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	219	cd05086	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214	cd05618	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	204	cd05595	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	205	cd05602	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	207	cd05582	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	205	cd05603	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214	cd05588	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	210	cd05617	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	205	cd05575	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	205	cd05604	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	205	cd05591	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	205	cd05619	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	205	cd05571	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	204	cd05593	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	234	cd06635	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	201	smart00750	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	280	cd07865	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	225	cd07880	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	224	cd06655	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	225	cd06654	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	224	cd06647	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	230	cd07844	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	213	cd07871	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214	cd07870	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	305	cd07866	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	264	cd07843	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	241	cd07869	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	215	cd07856	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	221	cd05063	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	213	cd06613	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	214	cd07873	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	229	cd07872	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	218	cd06646	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	233	cd07845	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	227	cd07877	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	298	cd05046	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	263	cd06614	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	249	cd06639	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	244	cd07850	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	231	cd07876	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	252	cd05098	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	878	smart00220	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	229	cd07868	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	234	cd07867	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	368	cd07840	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	286	cd07838	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	222	cd06629	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	326	cd07830	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	250	cd05118	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	304	cd07829	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	942	smart00221	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	237	cd07835	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	381	pfam00069	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	644	smart00219	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	240	cd07854	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	220	cd05079	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	257	cd05625	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	273	cd05038	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	239	cd05075	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	216	cd05069	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	225	cd05074	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	431	pfam07714	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	235	cd05035	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	213	cd05071	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	217	cd05080	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	210	cd05589	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	218	cd05081	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	276	cd05032	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	207	cd05083	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	234	cd06620	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	263	cd05053	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	219	cd05066	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	221	cd05065	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	230	cd06616	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	270	cd07855	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	211_G	cd05113	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	211	cd05114	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	210_G	cd05112	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	217	cd06643	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	254_G	cd05033	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	305	cd05043	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	254	cd05039	NULL
6795	62865641	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	225	cd06648	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	225	cd05059	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	231	cd08228	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	276	cd06608	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	288	cd07852	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	229	cd08229	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	238	cd08224	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	240	cd05089	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	243	cd06657	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	267	cd06650	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	246	cd06648	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	248	cd05093	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	225	cd05082	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	231	cd05052	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	235	cd05068	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	276	cd07864	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	269	cd06649	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	264	cd05098	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	231	cd05064	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	250	cd05090	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	251	cd05048	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	252	cd05091	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	311	cd05094	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	250	cd05092	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	259	cd05049	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	243	cd05062	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	245	cd06658	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	270	cd07858	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	244	cd06659	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	248	cd05061	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	236	cd05067	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	230	cd05073	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	230	cd05072	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	229	cd05070	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	251	cd06619	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	1111	COG0515	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	221	cd06640	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	276	cd07849	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	258	cd06609	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	218	cd06641	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	261	cd05148	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	274	cd07848	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	245	cd06612	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	247	cd06610	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	335	cd07833	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	500	cd05581	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	235	cd06653	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	236	cd06625	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	264	cd07847	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	278	cd07846	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	247	cd07862	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	292	cd05580	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	233	cd06611	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	269	cd06615	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	236	cd05034	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	238	cd06621	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	446	cd05599	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	328	cd05574	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	261	cd05050	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	272	cd07837	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	259	cd06652	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	296	cd06623	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	309	cd06605	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	228	cd06642	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	232	cd05623	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	382	cd05573	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	230	cd06617	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	262	cd05628	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	308_G	cd05600	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	246	cd05601	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	223	cd05612	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	236	cd05597	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	243	cd06654	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	262	cd05627	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	232	cd05624	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	290	cd05629	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	287	cd05598	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	245	cd05609	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	274	cd05626	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	249	cd06622	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	273	cd07854	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	235	cd05079	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	256	cd07868	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	259	cd07867	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	390	cd07840	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	325	cd07838	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	248	cd06629	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	366	cd07830	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	266	cd05118	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	335	cd07829	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	976	smart00221	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	272	cd07835	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	439	pfam00069	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	274	cd05625	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	229	cd05071	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	255	cd05075	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	229	cd05069	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	241	cd05074	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	292	cd05038	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	449	pfam07714	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	251	cd05035	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	232	cd05080	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	225	cd05589	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	234	cd05081	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	669	smart00219	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	253	cd06632	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	278	cd06626	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	228	cd05584	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	240	cd06637	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	256	cd06638	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	245_G	cd06636	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	246	cd05036	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	243	cd06624	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	244	cd06633	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	265	cd05056	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	223	cd05633	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	875	cd05123	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	221	cd05085	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	230	cd05577	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	225	cd05606	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	225	cd05608	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	224	cd05607	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	243	cd06917	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	307	cd05572	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	224	cd05115	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	237	cd05047	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	794	cd05579	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	222	cd05586	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	217	cd05585	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	829	cd00180	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	416	cd05611	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	270	cd07857	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	229	cd05630	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	307	cd07841	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	229	cd05632	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	229	cd05631	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	229	cd05605	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	249	cd05613	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	237	cd05583	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	318	cd05051	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	251	cd05045	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	235	cd06651	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	231	cd08222	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	251	cd07861	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	228	cd08529	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	225	cd08219	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	301	cd08217	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	227	cd08530	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	247	cd07863	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	273	cd06627	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	308	cd08215	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	243	cd05578	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	265	cd07836	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	235	cd08220	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	400	cd06606	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	237	cd06631	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	408	cd07842	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	242	cd06628	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	231	cd08221	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	226	cd08218	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	225	cd08225	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	227	cd08223	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	254	cd07860	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	244	cd07839	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	324	cd05122	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	249	cd08528	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	248	cd05616	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	230	cd05587	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	225	cd05615	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	235	cd05614	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	269	cd07859	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	431	cd07834	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	269	cd07853	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	242	cd06656	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	269	cd07832	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	238	cd06630	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	281	cd06614	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	248	cd06635	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	247	cd05111	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	282	cd07850	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	261	cd05101	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	261	cd06634	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	297	cd05057	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	238	cd06645	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	238	cd06646	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	261	cd07877	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	234	cd05109	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	286	cd07845	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	311	cd05046	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	264	cd07851	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	242	cd06644	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	262	cd05099	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	275	cd05621	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	259	cd07878	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	242	cd06647	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	272	cd07880	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	249	cd05088	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	256	cd05108	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	275	cd05622	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	235	cd06607	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	242	cd06655	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	276	cd05596	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	255	cd06618	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	267	cd06639	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	297	cd06620	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	254	cd06616	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	291	cd07855	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	275	cd05053	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	235	cd05066	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	237	cd05065	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	235	cd06643	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	267	cd05033	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	224	cd05113	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	227	cd05114	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	223	cd05112	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	296	cd05032	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	223	cd05083	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	1125	smart00220	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	220	cd05594	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	235	cd05620	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	236	cd05592	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	231	cd05570	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	220	cd05590	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	220	cd05041	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	224	cd05116	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	222	cd05084	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	241	cd05040	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	270	cd07831	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	227	cd05060	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	235	cd05058	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	229	cd05078	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	481	cd00192	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	268	cd05037	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	245	cd05044	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	238	cd05086	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	229	cd05618	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	219	cd05595	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	220	cd05602	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	222	cd05582	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	220	cd05603	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	229	cd05588	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	227	cd05617	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	221	cd05575	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	220	cd05604	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	220	cd05591	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	220	cd05619	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	220	cd05571	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	219	cd05593	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	271	cd08216	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	242	cd05042	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	222	smart00750	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	248	cd07873	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	261	cd07869	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	256	cd07856	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	253	cd07844	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	249	cd07871	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	301	cd07865	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	265	cd07870	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	324	cd07866	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	293	cd07843	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	248	cd07872	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	233	cd05063	NULL
6795	62865643	Disease	p.Cys229Tyr	603495.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495	MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	OMIM	228	cd06613	NULL
54361	20532425	Disease	p.Glu226Gly	603490.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603490	MULLERIAN APLASIA AND HYPERANDROGENISM	OMIM	432	pfam00110	17402922,NP_110388
54361	20532425	Disease	p.Glu226Gly	603490.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603490	MULLERIAN APLASIA AND HYPERANDROGENISM	OMIM	262	smart00097	17402922,NP_110388
54361	20532425	Disease	p.Ala114Val	603490.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603490	SERKAL SYNDROME	OMIM	164	pfam00110	17402922,NP_110388
54361	20532425	Disease	p.Ala114Val	603490.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603490	SERKAL SYNDROME	OMIM	81	smart00097	17402922,NP_110388
54361	20532425	Disease	p.Arg83Cys	603490.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603490	MULLERIAN APLASIA AND HYPERANDROGENISM	OMIM	55	pfam00110	17402922,NP_110388
54361	20532425	Disease	p.Arg83Cys	603490.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603490	MULLERIAN APLASIA AND HYPERANDROGENISM	OMIM	42	smart00097	17402922,NP_110388
54361	20532425	Disease	p.Leu12Pro	603490.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603490	MULLERIAN APLASIA AND HYPERANDROGENISM	OMIM	No Domain	N/A	17402922,NP_110388
8483	192449445	Disease	p.Ile395Thr	603489.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603489	LUMBAR DISC DISEASE, SUSCEPTIBILITY TO	OMIM	75	cd05760	NULL
6223	730640	Disease	p.Arg62Trp	603474.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603474	DIAMOND-BLACKFAN ANEMIA	OMIM	62	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Arg62Trp	603474.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603474	DIAMOND-BLACKFAN ANEMIA	OMIM	62	COG2238	4506695,NP_001013
6223	730640	Disease	p.Thr55Met	603474.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603474	DIAMOND-BLACKFAN ANEMIA	OMIM	55	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Thr55Met	603474.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603474	DIAMOND-BLACKFAN ANEMIA	OMIM	55	COG2238	4506695,NP_001013
6223	730640	Disease	p.Gly127Gln	603474.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603474	DIAMOND-BLACKFAN ANEMIA	OMIM	138	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Gly127Gln	603474.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603474	DIAMOND-BLACKFAN ANEMIA	OMIM	132	COG2238	4506695,NP_001013
445	20141195	Disease	p.Gly14Ser	603470.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	7	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly14Ser	603470.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	14	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly14Ser	603470.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	8	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly14Ser	603470.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	34	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly14Ser	603470.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	8	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly14Ser	603470.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	7	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly14Ser	603470.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	14	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly14Ser	603470.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	8	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly14Ser	603470.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	34	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly14Ser	603470.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	8	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg157His	603470.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	153	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg157His	603470.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	167	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg157His	603470.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	162	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg157His	603470.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	153	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg157His	603470.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	167	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg157His	603470.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	162	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser180Asn	603470.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	176	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser180Asn	603470.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	192	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser180Asn	603470.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	188	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser180Asn	603470.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	176	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser180Asn	603470.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	192	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser180Asn	603470.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	188	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly324Ser	603470.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	330	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly324Ser	603470.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	344	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly324Ser	603470.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	340	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly324Ser	603470.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	330	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly324Ser	603470.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	344	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly324Ser	603470.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	340	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg363Trp	603470.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	369	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg363Trp	603470.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	384	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg363Trp	603470.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	381	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg363Trp	603470.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	369	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg363Trp	603470.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	384	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg363Trp	603470.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	381	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly390Arg	603470.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	397	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly390Arg	603470.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	416	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly390Arg	603470.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	413	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly390Arg	603470.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	397	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly390Arg	603470.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	416	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly390Arg	603470.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	413	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg304Trp	603470.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	309	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg304Trp	603470.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	323	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg304Trp	603470.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	319	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg304Trp	603470.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	309	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg304Trp	603470.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	323	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg304Trp	603470.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	319	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser18Leu	603470.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	11	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser18Leu	603470.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	18	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser18Leu	603470.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	12	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser18Leu	603470.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	38	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser18Leu	603470.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	12	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser18Leu	603470.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	11	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser18Leu	603470.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	18	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser18Leu	603470.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	12	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser18Leu	603470.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	38	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser18Leu	603470.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	12	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg86Cys	603470.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	82	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg86Cys	603470.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	92	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg86Cys	603470.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	90	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg86Cys	603470.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	130	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg86Cys	603470.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	134	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg86Cys	603470.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	82	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg86Cys	603470.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	92	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg86Cys	603470.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	90	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg86Cys	603470.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	130	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg86Cys	603470.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	134	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg108Leu	603470.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	104	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg108Leu	603470.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	117	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg108Leu	603470.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	112	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg108Leu	603470.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	152	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg108Leu	603470.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	175	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg108Leu	603470.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	104	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg108Leu	603470.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	117	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg108Leu	603470.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	112	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg108Leu	603470.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	152	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg108Leu	603470.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	175	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Trp179Arg	603470.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, MILD	OMIM	175	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Trp179Arg	603470.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, MILD	OMIM	191	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Trp179Arg	603470.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, MILD	OMIM	187	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Trp179Arg	603470.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, MILD	OMIM	175	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Trp179Arg	603470.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, MILD	OMIM	191	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Trp179Arg	603470.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, MILD	OMIM	187	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly362Val	603470.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, MILD	OMIM	368	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly362Val	603470.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, MILD	OMIM	383	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly362Val	603470.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, MILD	OMIM	380	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly362Val	603470.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, MILD	OMIM	368	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly362Val	603470.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, MILD	OMIM	383	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly362Val	603470.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, MILD	OMIM	380	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Lys310Gln	603470.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	315	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Lys310Gln	603470.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	329	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Lys310Gln	603470.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	326	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Lys310Gln	603470.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	315	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Lys310Gln	603470.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	329	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Lys310Gln	603470.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603470	CITRULLINEMIA, CLASSIC	OMIM	326	cd01999	53759107,NP_000041|16950633,NP_446464
8864	14917029	Disease	p.Ser662Gly	603426.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603426	ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL	OMIM	No Domain	N/A	12707562,NP_073728
8575	213417911	Disease	p.Pro222Leu	603424.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603424	DYSTONIA 16	OMIM	No Domain	N/A	NULL
8575	213417919	Disease	p.Pro222Leu	603424.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603424	DYSTONIA 16	OMIM	8	cd00048	NULL
8575	213417919	Disease	p.Pro222Leu	603424.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603424	DYSTONIA 16	OMIM	7	smart00358	NULL
8575	74735517	Disease	p.Pro222Leu	603424.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603424	DYSTONIA 16	OMIM	No Domain	N/A	4505581,NP_003681
6335	4506813	Disease	p.Leu858His	603415.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603415	ERYTHERMALGIA, PRIMARY	OMIM	180	pfam00520	NULL
6335	4506813	Disease	p.Ile848Thr	603415.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603415	ERYTHERMALGIA, PRIMARY	OMIM	169	pfam00520	NULL
6335	4506813	Disease	p.Ser241Thr	603415.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603415	ERYTHERMALGIA, PRIMARY	OMIM	173	pfam00520	NULL
6335	4506813	Disease	p.Phe1449Val	603415.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603415	ERYTHERMALGIA, PRIMARY	OMIM	No Domain	N/A	NULL
6335	4506813	Disease	p.Arg996Cys	603415.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603415	PAROXYSMAL EXTREME PAIN DISORDER	OMIM	26	pfam06512	NULL
6335	4506813	Disease	p.Val1298Asp	603415.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603415	PAROXYSMAL EXTREME PAIN DISORDER	OMIM	159	pfam00520	NULL
6335	4506813	Disease	p.Val1298Phe	603415.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603415	PAROXYSMAL EXTREME PAIN DISORDER	OMIM	159	pfam00520	NULL
6335	4506813	Disease	p.Val1299Phe	603415.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603415	PAROXYSMAL EXTREME PAIN DISORDER	OMIM	160	pfam00520	NULL
6335	4506813	Disease	p.Ile1461Thr	603415.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603415	PAROXYSMAL EXTREME PAIN DISORDER	OMIM	No Domain	N/A	NULL
6335	4506813	Disease	p.Thr1464Ile	603415.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603415	PAROXYSMAL EXTREME PAIN DISORDER	OMIM	No Domain	N/A	NULL
6335	4506813	Disease	p.Leu858Phe	603415.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603415	ERYTHERMALGIA, PRIMARY	OMIM	180	pfam00520	NULL
6335	4506813	Disease	p.Phe216Ser	603415.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603415	ERYTHERMALGIA, PRIMARY	OMIM	132	pfam00520	NULL
6335	4506813	Disease	p.Asn641Tyr	603415.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603415	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7	OMIM	273	pfam11933	NULL
6335	4506813	Disease	p.Lys655Arg	603415.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603415	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7||MYOCLONIC EPILEPSY, SEVERE, OF INFANCY	OMIM	298	pfam11933	NULL
6335	4506813	Disease	p.Ile62Val	603415.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603415	FEBRILE CONVULSIONS, FAMILIAL, 3B	OMIM	No Domain	N/A	NULL
6335	4506813	Disease	p.Pro149Gln	603415.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603415	FEBRILE CONVULSIONS, FAMILIAL, 3B	OMIM	No Domain	N/A	NULL
6335	4506813	Disease	p.Gln10Arg	603415.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603415	ERYTHERMALGIA, PRIMARY	OMIM	No Domain	N/A	NULL
8546	254763431	Disease	p.Leu540Arg	603401.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603401	HERMANSKY-PUDLAK SYNDROME 2	OMIM	744	pfam01602	32484979,NP_003655
8546	254763431	Disease	p.Leu540Arg	603401.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603401	HERMANSKY-PUDLAK SYNDROME 2	OMIM	659	COG5096	32484979,NP_003655
8838	38202241	Disease	p.Cys145Tyr	603400.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603400	ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD	OMIM	No Domain	N/A	NULL
8838	34098394	Disease	p.Cys145Tyr	603400.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603400	ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD	OMIM	No Domain	N/A	4507925,NP_003871
8838	38202241	Disease	p.Cys78Arg	603400.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603400	ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD	OMIM	53	smart00121	NULL
8838	38202241	Disease	p.Cys78Arg	603400.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603400	ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD	OMIM	41	pfam00219	NULL
8838	34098394	Disease	p.Cys78Arg	603400.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603400	ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD	OMIM	79	smart00121	4507925,NP_003871
8838	34098394	Disease	p.Cys78Arg	603400.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603400	ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD	OMIM	61	pfam00219	4507925,NP_003871
8838	38202241	Disease	p.Ser334Pro	603400.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603400	SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY	OMIM	111	smart00041	NULL
8838	38202241	Disease	p.Ser334Pro	603400.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603400	SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY	OMIM	69	pfam00007	NULL
8838	34098394	Disease	p.Ser334Pro	603400.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603400	SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY	OMIM	87	pfam00007	4507925,NP_003871
8838	34098394	Disease	p.Ser334Pro	603400.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603400	SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY	OMIM	135	smart00041	4507925,NP_003871
8622	71164867	Disease	p.His305Pro	603390.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603390	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3	OMIM	No Domain	N/A	NULL
8622	71164869	Disease	p.His305Pro	603390.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603390	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3	OMIM	42	pfam00989	NULL
8622	71164869	Disease	p.His305Pro	603390.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603390	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3	OMIM	51	smart00091	NULL
8622	71164869	Disease	p.His305Pro	603390.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603390	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3	OMIM	31	cd00130	NULL
8622	71164869	Disease	p.His305Pro	603390.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603390	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3	OMIM	630	COG2202	NULL
8622	34223714	Disease	p.His305Pro	603390.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603390	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3	OMIM	42	pfam00989	26006851,NP_003710
8622	34223714	Disease	p.His305Pro	603390.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603390	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3	OMIM	51	smart00091	26006851,NP_003710
8622	34223714	Disease	p.His305Pro	603390.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603390	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3	OMIM	31	cd00130	26006851,NP_003710
8622	34223714	Disease	p.His305Pro	603390.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603390	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3	OMIM	630	COG2202	26006851,NP_003710
8622	71164873	Disease	p.His305Pro	603390.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603390	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3	OMIM	651	COG2202	NULL
8622	71164873	Disease	p.His305Pro	603390.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603390	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3	OMIM	67	pfam00989	NULL
8622	71164873	Disease	p.His305Pro	603390.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603390	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3	OMIM	93	smart00091	NULL
8622	71164873	Disease	p.His305Pro	603390.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603390	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3	OMIM	55	cd00130	NULL
8622	71164875	Disease	p.His305Pro	603390.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603390	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3	OMIM	No Domain	N/A	NULL
2317	256222413	Disease	p.Phe161Cys	603381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	71	smart00033	NULL
2317	256222413	Disease	p.Phe161Cys	603381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	112	pfam00307	NULL
2317	256222413	Disease	p.Phe161Cys	603381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	36	cd00014	NULL
2317	256222413	Disease	p.Phe161Cys	603381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	177	COG5069	NULL
2317	256222411	Disease	p.Phe161Cys	603381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	71	smart00033	NULL
2317	256222411	Disease	p.Phe161Cys	603381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	112	pfam00307	NULL
2317	256222411	Disease	p.Phe161Cys	603381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	36	cd00014	NULL
2317	256222411	Disease	p.Phe161Cys	603381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	177	COG5069	NULL
2317	256222415	Disease	p.Phe161Cys	603381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	71	smart00033	NULL
2317	256222415	Disease	p.Phe161Cys	603381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	112	pfam00307	NULL
2317	256222415	Disease	p.Phe161Cys	603381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	36	cd00014	NULL
2317	256222415	Disease	p.Phe161Cys	603381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	177	COG5069	NULL
2317	296434507	Disease	p.Phe161Cys	603381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	71	smart00033	105990514,NP_001448
2317	296434507	Disease	p.Phe161Cys	603381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	112	pfam00307	105990514,NP_001448
2317	296434507	Disease	p.Phe161Cys	603381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	36	cd00014	105990514,NP_001448
2317	296434507	Disease	p.Phe161Cys	603381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	177	COG5069	105990514,NP_001448
2317	256222413	Disease	p.Gly1586Arg	603381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	172	smart00557	NULL
2317	256222413	Disease	p.Gly1586Arg	603381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	295	pfam00630	NULL
2317	256222411	Disease	p.Gly1586Arg	603381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	95	pfam00630	NULL
2317	256222411	Disease	p.Gly1586Arg	603381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	116	smart00557	NULL
2317	256222415	Disease	p.Gly1586Arg	603381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	172	smart00557	NULL
2317	256222415	Disease	p.Gly1586Arg	603381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	295	pfam00630	NULL
2317	296434507	Disease	p.Gly1586Arg	603381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	172	smart00557	105990514,NP_001448
2317	296434507	Disease	p.Gly1586Arg	603381.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	295	pfam00630	105990514,NP_001448
2317	256222413	Disease	p.Ala173Val	603381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I	OMIM	85	smart00033	NULL
2317	256222413	Disease	p.Ala173Val	603381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I	OMIM	127	pfam00307	NULL
2317	256222413	Disease	p.Ala173Val	603381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I	OMIM	48	cd00014	NULL
2317	256222413	Disease	p.Ala173Val	603381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I	OMIM	189	COG5069	NULL
2317	256222411	Disease	p.Ala173Val	603381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I	OMIM	85	smart00033	NULL
2317	256222411	Disease	p.Ala173Val	603381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I	OMIM	127	pfam00307	NULL
2317	256222411	Disease	p.Ala173Val	603381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I	OMIM	48	cd00014	NULL
2317	256222411	Disease	p.Ala173Val	603381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I	OMIM	189	COG5069	NULL
2317	256222415	Disease	p.Ala173Val	603381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I	OMIM	85	smart00033	NULL
2317	256222415	Disease	p.Ala173Val	603381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I	OMIM	127	pfam00307	NULL
2317	256222415	Disease	p.Ala173Val	603381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I	OMIM	48	cd00014	NULL
2317	256222415	Disease	p.Ala173Val	603381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I	OMIM	189	COG5069	NULL
2317	296434507	Disease	p.Ala173Val	603381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I	OMIM	85	smart00033	105990514,NP_001448
2317	296434507	Disease	p.Ala173Val	603381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I	OMIM	127	pfam00307	105990514,NP_001448
2317	296434507	Disease	p.Ala173Val	603381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I	OMIM	48	cd00014	105990514,NP_001448
2317	296434507	Disease	p.Ala173Val	603381.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I	OMIM	189	COG5069	105990514,NP_001448
2317	256222413	Disease	p.Met202Val	603381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I||ATELOSTEOGENESIS, TYPE III	OMIM	179	smart00033	NULL
2317	256222413	Disease	p.Met202Val	603381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I||ATELOSTEOGENESIS, TYPE III	OMIM	190	pfam00307	NULL
2317	256222413	Disease	p.Met202Val	603381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I||ATELOSTEOGENESIS, TYPE III	OMIM	96	cd00014	NULL
2317	256222413	Disease	p.Met202Val	603381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I||ATELOSTEOGENESIS, TYPE III	OMIM	219	COG5069	NULL
2317	256222411	Disease	p.Met202Val	603381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I||ATELOSTEOGENESIS, TYPE III	OMIM	179	smart00033	NULL
2317	256222411	Disease	p.Met202Val	603381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I||ATELOSTEOGENESIS, TYPE III	OMIM	190	pfam00307	NULL
2317	256222411	Disease	p.Met202Val	603381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I||ATELOSTEOGENESIS, TYPE III	OMIM	96	cd00014	NULL
2317	256222411	Disease	p.Met202Val	603381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I||ATELOSTEOGENESIS, TYPE III	OMIM	219	COG5069	NULL
2317	256222415	Disease	p.Met202Val	603381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I||ATELOSTEOGENESIS, TYPE III	OMIM	179	smart00033	NULL
2317	256222415	Disease	p.Met202Val	603381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I||ATELOSTEOGENESIS, TYPE III	OMIM	190	pfam00307	NULL
2317	256222415	Disease	p.Met202Val	603381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I||ATELOSTEOGENESIS, TYPE III	OMIM	96	cd00014	NULL
2317	256222415	Disease	p.Met202Val	603381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I||ATELOSTEOGENESIS, TYPE III	OMIM	219	COG5069	NULL
2317	296434507	Disease	p.Met202Val	603381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I||ATELOSTEOGENESIS, TYPE III	OMIM	179	smart00033	105990514,NP_001448
2317	296434507	Disease	p.Met202Val	603381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I||ATELOSTEOGENESIS, TYPE III	OMIM	190	pfam00307	105990514,NP_001448
2317	296434507	Disease	p.Met202Val	603381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I||ATELOSTEOGENESIS, TYPE III	OMIM	96	cd00014	105990514,NP_001448
2317	296434507	Disease	p.Met202Val	603381.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE I||ATELOSTEOGENESIS, TYPE III	OMIM	219	COG5069	105990514,NP_001448
2317	256222413	Disease	p.Gly751Arg	603381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE III	OMIM	18	pfam00630	NULL
2317	256222413	Disease	p.Gly751Arg	603381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE III	OMIM	22	smart00557	NULL
2317	256222411	Disease	p.Gly751Arg	603381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE III	OMIM	18	pfam00630	NULL
2317	256222411	Disease	p.Gly751Arg	603381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE III	OMIM	22	smart00557	NULL
2317	256222415	Disease	p.Gly751Arg	603381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE III	OMIM	18	pfam00630	NULL
2317	256222415	Disease	p.Gly751Arg	603381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE III	OMIM	22	smart00557	NULL
2317	296434507	Disease	p.Gly751Arg	603381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE III	OMIM	18	pfam00630	105990514,NP_001448
2317	296434507	Disease	p.Gly751Arg	603381.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	ATELOSTEOGENESIS, TYPE III	OMIM	22	smart00557	105990514,NP_001448
2317	256222413	Disease	p.Ser235Pro	603381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	BOOMERANG DYSPLASIA	OMIM	235	smart00033	NULL
2317	256222413	Disease	p.Ser235Pro	603381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	BOOMERANG DYSPLASIA	OMIM	247	pfam00307	NULL
2317	256222413	Disease	p.Ser235Pro	603381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	BOOMERANG DYSPLASIA	OMIM	133	cd00014	NULL
2317	256222413	Disease	p.Ser235Pro	603381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	BOOMERANG DYSPLASIA	OMIM	274	COG5069	NULL
2317	256222411	Disease	p.Ser235Pro	603381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	BOOMERANG DYSPLASIA	OMIM	235	smart00033	NULL
2317	256222411	Disease	p.Ser235Pro	603381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	BOOMERANG DYSPLASIA	OMIM	247	pfam00307	NULL
2317	256222411	Disease	p.Ser235Pro	603381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	BOOMERANG DYSPLASIA	OMIM	133	cd00014	NULL
2317	256222411	Disease	p.Ser235Pro	603381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	BOOMERANG DYSPLASIA	OMIM	274	COG5069	NULL
2317	256222415	Disease	p.Ser235Pro	603381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	BOOMERANG DYSPLASIA	OMIM	235	smart00033	NULL
2317	256222415	Disease	p.Ser235Pro	603381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	BOOMERANG DYSPLASIA	OMIM	247	pfam00307	NULL
2317	256222415	Disease	p.Ser235Pro	603381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	BOOMERANG DYSPLASIA	OMIM	133	cd00014	NULL
2317	256222415	Disease	p.Ser235Pro	603381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	BOOMERANG DYSPLASIA	OMIM	274	COG5069	NULL
2317	296434507	Disease	p.Ser235Pro	603381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	BOOMERANG DYSPLASIA	OMIM	235	smart00033	105990514,NP_001448
2317	296434507	Disease	p.Ser235Pro	603381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	BOOMERANG DYSPLASIA	OMIM	247	pfam00307	105990514,NP_001448
2317	296434507	Disease	p.Ser235Pro	603381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	BOOMERANG DYSPLASIA	OMIM	133	cd00014	105990514,NP_001448
2317	296434507	Disease	p.Ser235Pro	603381.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	BOOMERANG DYSPLASIA	OMIM	274	COG5069	105990514,NP_001448
2317	256222413	Disease	p.Glu227Lys	603381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	227	smart00033	NULL
2317	256222413	Disease	p.Glu227Lys	603381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	232	pfam00307	NULL
2317	256222413	Disease	p.Glu227Lys	603381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	125	cd00014	NULL
2317	256222413	Disease	p.Glu227Lys	603381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	247	COG5069	NULL
2317	256222411	Disease	p.Glu227Lys	603381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	227	smart00033	NULL
2317	256222411	Disease	p.Glu227Lys	603381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	232	pfam00307	NULL
2317	256222411	Disease	p.Glu227Lys	603381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	125	cd00014	NULL
2317	256222411	Disease	p.Glu227Lys	603381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	247	COG5069	NULL
2317	256222415	Disease	p.Glu227Lys	603381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	227	smart00033	NULL
2317	256222415	Disease	p.Glu227Lys	603381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	232	pfam00307	NULL
2317	256222415	Disease	p.Glu227Lys	603381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	125	cd00014	NULL
2317	256222415	Disease	p.Glu227Lys	603381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	247	COG5069	NULL
2317	296434507	Disease	p.Glu227Lys	603381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	227	smart00033	105990514,NP_001448
2317	296434507	Disease	p.Glu227Lys	603381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	232	pfam00307	105990514,NP_001448
2317	296434507	Disease	p.Glu227Lys	603381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	125	cd00014	105990514,NP_001448
2317	296434507	Disease	p.Glu227Lys	603381.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	247	COG5069	105990514,NP_001448
2317	256222413	Disease	p.Gly1691Ser	603381.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	307	pfam00630	NULL
2317	256222413	Disease	p.Gly1691Ser	603381.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	184	smart00557	NULL
2317	256222411	Disease	p.Gly1691Ser	603381.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	136	smart00557	NULL
2317	256222411	Disease	p.Gly1691Ser	603381.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	235	pfam00630	NULL
2317	256222415	Disease	p.Gly1691Ser	603381.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	307	pfam00630	NULL
2317	256222415	Disease	p.Gly1691Ser	603381.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	184	smart00557	NULL
2317	296434507	Disease	p.Gly1691Ser	603381.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	307	pfam00630	105990514,NP_001448
2317	296434507	Disease	p.Gly1691Ser	603381.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603381	LARSEN SYNDROME, AUTOSOMAL DOMINANT	OMIM	184	smart00557	105990514,NP_001448
6584	8928257	Disease	p.Pro478Leu	603377.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	801	COG0477	4507005,NP_003051
6584	8928257	Disease	p.Pro478Leu	603377.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	816	cd06174	4507005,NP_003051
6584	8928257	Disease	p.Pro478Leu	603377.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	550	pfam00083	4507005,NP_003051
6584	8928257	Disease	p.Tyr211Cys	603377.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	245	pfam07690	4507005,NP_003051
6584	8928257	Disease	p.Tyr211Cys	603377.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	300	COG0477	4507005,NP_003051
6584	8928257	Disease	p.Tyr211Cys	603377.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	220	cd06174	4507005,NP_003051
6584	8928257	Disease	p.Tyr211Cys	603377.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	202	pfam00083	4507005,NP_003051
6584	8928257	Disease	p.Arg169Gln	603377.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	177	pfam07690	4507005,NP_003051
6584	8928257	Disease	p.Arg169Gln	603377.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	155	COG0477	4507005,NP_003051
6584	8928257	Disease	p.Arg169Gln	603377.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	127	cd06174	4507005,NP_003051
6584	8928257	Disease	p.Arg169Gln	603377.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	140	pfam00083	4507005,NP_003051
6584	8928257	Disease	p.Arg169Trp	603377.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	177	pfam07690	4507005,NP_003051
6584	8928257	Disease	p.Arg169Trp	603377.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	155	COG0477	4507005,NP_003051
6584	8928257	Disease	p.Arg169Trp	603377.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	127	cd06174	4507005,NP_003051
6584	8928257	Disease	p.Arg169Trp	603377.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	140	pfam00083	4507005,NP_003051
6584	8928257	Disease	p.Trp351Arg	603377.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	520	pfam07690	4507005,NP_003051
6584	8928257	Disease	p.Trp351Arg	603377.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	591	COG0477	4507005,NP_003051
6584	8928257	Disease	p.Trp351Arg	603377.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	502	cd06174	4507005,NP_003051
6584	8928257	Disease	p.Trp351Arg	603377.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	375	pfam00083	4507005,NP_003051
6584	8928257	Disease	p.Arg399Gln	603377.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	607	pfam07690	4507005,NP_003051
6584	8928257	Disease	p.Arg399Gln	603377.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	682	COG0477	4507005,NP_003051
6584	8928257	Disease	p.Arg399Gln	603377.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	598	cd06174	4507005,NP_003051
6584	8928257	Disease	p.Arg399Gln	603377.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	437	pfam00083	4507005,NP_003051
6584	8928257	Disease	p.Met1Ile	603377.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	No Domain	N/A	4507005,NP_003051
6584	8928257	Disease	p.Arg399Trp	603377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	607	pfam07690	4507005,NP_003051
6584	8928257	Disease	p.Arg399Trp	603377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	682	COG0477	4507005,NP_003051
6584	8928257	Disease	p.Arg399Trp	603377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	598	cd06174	4507005,NP_003051
6584	8928257	Disease	p.Arg399Trp	603377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	437	pfam00083	4507005,NP_003051
6584	8928257	Disease	p.Ala442Ile	603377.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	690	pfam07690	4507005,NP_003051
6584	8928257	Disease	p.Ala442Ile	603377.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	748	COG0477	4507005,NP_003051
6584	8928257	Disease	p.Ala442Ile	603377.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	766	cd06174	4507005,NP_003051
6584	8928257	Disease	p.Ala442Ile	603377.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	507	pfam00083	4507005,NP_003051
6584	8928257	Disease	p.Gly15Trp	603377.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603377	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY	OMIM	No Domain	N/A	4507005,NP_003051
7253	64085121	Disease	p.Asp36His	603372.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	THYROTROPIN RECEPTOR POLYMORPHISM	OMIM	No Domain	N/A	NULL
7253	217330610	Disease	p.Asp36His	603372.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	THYROTROPIN RECEPTOR POLYMORPHISM	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Asp36His	603372.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	THYROTROPIN RECEPTOR POLYMORPHISM	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Asp619Gly	603372.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC	OMIM	361	pfam00001	NULL
7253	64085121	Disease	p.Asp619Gly	603372.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC	OMIM	249	pfam10328	NULL
7253	217330610	Disease	p.Asp619Gly	603372.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Asp619Gly	603372.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Ala623Ile	603372.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC	OMIM	365	pfam00001	NULL
7253	64085121	Disease	p.Ala623Ile	603372.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC	OMIM	253	pfam10328	NULL
7253	217330610	Disease	p.Ala623Ile	603372.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Ala623Ile	603372.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Phe631Leu	603372.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE||THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC	OMIM	373	pfam00001	NULL
7253	64085121	Disease	p.Phe631Leu	603372.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE||THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC	OMIM	266	pfam10328	NULL
7253	217330610	Disease	p.Phe631Leu	603372.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE||THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Phe631Leu	603372.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE||THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Ile167Asn	603372.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	217330610	Disease	p.Ile167Asn	603372.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Ile167Asn	603372.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Pro162Ala	603372.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	217330610	Disease	p.Pro162Ala	603372.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Pro162Ala	603372.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Met453Thr	603372.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	21	pfam00001	NULL
7253	64085121	Disease	p.Met453Thr	603372.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	33	pfam10328	NULL
7253	217330610	Disease	p.Met453Thr	603372.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Met453Thr	603372.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Arg109Gln	603372.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	217330610	Disease	p.Arg109Gln	603372.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Arg109Gln	603372.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Asp410Asn	603372.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	217330610	Disease	p.Asp410Asn	603372.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Asp410Asn	603372.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Cys41Ser	603372.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	217330610	Disease	p.Cys41Ser	603372.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Cys41Ser	603372.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Phe525Leu	603372.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	98	pfam00001	NULL
7253	64085121	Disease	p.Phe525Leu	603372.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	109	pfam10328	NULL
7253	217330610	Disease	p.Phe525Leu	603372.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Phe525Leu	603372.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Cys390Trp	603372.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	217330610	Disease	p.Cys390Trp	603372.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Cys390Trp	603372.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Ala553Thr	603372.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	128	pfam00001	NULL
7253	64085121	Disease	p.Ala553Thr	603372.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	159	pfam10328	NULL
7253	217330610	Disease	p.Ala553Thr	603372.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Ala553Thr	603372.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Ser281Ile	603372.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC	OMIM	No Domain	N/A	NULL
7253	217330610	Disease	p.Ser281Ile	603372.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Ser281Ile	603372.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Val509Ala	603372.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	82	pfam00001	NULL
7253	64085121	Disease	p.Val509Ala	603372.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	93	pfam10328	NULL
7253	217330610	Disease	p.Val509Ala	603372.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Val509Ala	603372.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Cys672Tyr	603372.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	424	pfam00001	NULL
7253	64085121	Disease	p.Cys672Tyr	603372.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	324	pfam10328	NULL
7253	217330610	Disease	p.Cys672Tyr	603372.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Cys672Tyr	603372.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Ser505Asn	603372.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	78	pfam00001	NULL
7253	64085121	Disease	p.Ser505Asn	603372.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	87	pfam10328	NULL
7253	217330610	Disease	p.Ser505Asn	603372.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Ser505Asn	603372.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Leu629Phe	603372.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE||THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC	OMIM	371	pfam00001	NULL
7253	64085121	Disease	p.Leu629Phe	603372.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE||THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC	OMIM	261	pfam10328	NULL
7253	217330610	Disease	p.Leu629Phe	603372.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE||THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Leu629Phe	603372.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE||THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Ser281Asn	603372.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	No Domain	N/A	NULL
7253	217330610	Disease	p.Ser281Asn	603372.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Ser281Asn	603372.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Lys183Arg	603372.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, FAMILIAL GESTATIONAL	OMIM	No Domain	N/A	NULL
7253	217330610	Disease	p.Lys183Arg	603372.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, FAMILIAL GESTATIONAL	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Lys183Arg	603372.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, FAMILIAL GESTATIONAL	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Pro639Ser	603372.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	381	pfam00001	NULL
7253	64085121	Disease	p.Pro639Ser	603372.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	274	pfam10328	NULL
7253	217330610	Disease	p.Pro639Ser	603372.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Pro639Ser	603372.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Thr477Ile	603372.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	45	pfam00001	NULL
7253	64085121	Disease	p.Thr477Ile	603372.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	67	pfam10328	NULL
7253	217330610	Disease	p.Thr477Ile	603372.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Thr477Ile	603372.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Arg310Cys	603372.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	217330610	Disease	p.Arg310Cys	603372.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Arg310Cys	603372.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Gly431Ser	603372.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	10	pfam10328	NULL
7253	217330610	Disease	p.Gly431Ser	603372.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Gly431Ser	603372.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPERTHYROIDISM, NONAUTOIMMUNE	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Cys600Arg	603372.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	200	pfam00001	NULL
7253	64085121	Disease	p.Cys600Arg	603372.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	227	pfam10328	NULL
7253	217330610	Disease	p.Cys600Arg	603372.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Cys600Arg	603372.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085121	Disease	p.Leu467Pro	603372.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	35	pfam00001	NULL
7253	64085121	Disease	p.Leu467Pro	603372.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	51	pfam10328	NULL
7253	217330610	Disease	p.Leu467Pro	603372.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
7253	64085161	Disease	p.Leu467Pro	603372.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603372	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	OMIM	No Domain	N/A	NULL
2733	83288218	Disease	p.Arg569His	603371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603371	LETHAL CONGENITAL CONTRACTURE SYNDROME 1	OMIM	199	pfam07817	51317384,NP_001003722
2733	4557627	Disease	p.Arg569His	603371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603371	LETHAL CONGENITAL CONTRACTURE SYNDROME 1	OMIM	199	pfam07817	NULL
2733	83288218	Disease	p.Val617Met	603371.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603371	LETHAL ARTHROGRYOPOSIS WITH ANTERIOR HORN CELL DISEASE	OMIM	285	pfam07817	51317384,NP_001003722
2733	4557627	Disease	p.Val617Met	603371.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603371	LETHAL ARTHROGRYOPOSIS WITH ANTERIOR HORN CELL DISEASE	OMIM	285	pfam07817	NULL
2733	83288218	Disease	p.Ile684Thr	603371.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603371	LETHAL ARTHROGRYOPOSIS WITH ANTERIOR HORN CELL DISEASE	OMIM	No Domain	N/A	51317384,NP_001003722
2733	4557627	Disease	p.Ile684Thr	603371.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603371	LETHAL ARTHROGRYOPOSIS WITH ANTERIOR HORN CELL DISEASE	OMIM	No Domain	N/A	NULL
2034	32470617	Disease	p.Gly537Trp	603349.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603349	ERYTHROCYTOSIS, FAMILIAL, 4	OMIM	22	pfam11413	40254439,NP_001421
2034	32470617	Disease	p.Gly537Arg	603349.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603349	ERYTHROCYTOSIS, FAMILIAL, 4	OMIM	22	pfam11413	40254439,NP_001421
2034	32470617	Disease	p.Met535Val	603349.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603349	ERYTHROCYTOSIS, FAMILIAL, 4	OMIM	20	pfam11413	40254439,NP_001421
8671	4507025	Disease	p.Arg298Ser	603345.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603345	RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION	OMIM	391	pfam07565	NULL
8671	74721543	Disease	p.Arg298Ser	603345.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603345	RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION	OMIM	342	pfam07565	148596928,NP_001091954
8671	197927160	Disease	p.Arg298Ser	603345.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603345	RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION	OMIM	342	pfam07565	NULL
8671	4507025	Disease	p.Arg510His	603345.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603345	RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION	OMIM	120	pfam00955	NULL
8671	74721543	Disease	p.Arg510His	603345.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603345	RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION	OMIM	76	pfam00955	148596928,NP_001091954
8671	197927160	Disease	p.Arg510His	603345.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603345	RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION	OMIM	76	pfam00955	NULL
1767	116241343	Disease	p.Gly3519Arg	603335.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603335	CILIARY DYSKINESIA, PRIMARY, 3	OMIM	No Domain	N/A	19115954,NP_001360
2707	6014758	Disease	p.Gly12Arg	603324.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603324	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA	OMIM	12	pfam00029	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Gly12Arg	603324.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603324	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA	OMIM	12	pfam00029	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Gly12Asp	603324.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603324	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA	OMIM	12	pfam00029	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Gly12Asp	603324.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603324	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA	OMIM	12	pfam00029	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Cys86Ser	603324.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603324	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA	OMIM	86	pfam00029	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Cys86Ser	603324.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603324	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA	OMIM	86	pfam00029	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Glu183Lys	603324.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603324	DEAFNESS, AUTOSOMAL DOMINANT 2B	OMIM	48	pfam10582	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Glu183Lys	603324.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603324	DEAFNESS, AUTOSOMAL DOMINANT 2B	OMIM	48	pfam10582	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Ile141Val	603324.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603324	DEAFNESS, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Ile141Val	603324.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603324	DEAFNESS, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Arg42Pro	603324.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603324	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA	OMIM	42	pfam00029	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Arg42Pro	603324.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603324	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA	OMIM	42	pfam00029	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Leu34Pro	603324.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603324	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA	OMIM	34	pfam00029	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Leu34Pro	603324.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603324	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA	OMIM	34	pfam00029	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Asn166Ser	603324.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603324	DEAFNESS, DIGENIC, GJB2/GJB3	OMIM	27	pfam10582	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Asn166Ser	603324.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603324	DEAFNESS, DIGENIC, GJB2/GJB3	OMIM	27	pfam10582	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Ala194Thr	603324.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603324	DEAFNESS, DIGENIC, GJB2/GJB3	OMIM	59	pfam10582	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Ala194Thr	603324.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603324	DEAFNESS, DIGENIC, GJB2/GJB3	OMIM	59	pfam10582	54607056,NP_001005752|13128960,NP_076872
5801	19743917	Disease	p.Arg457Gly	603317.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603317	DEAFNESS, AUTOSOMAL RECESSIVE 84; DFNB84	OMIM	No Domain	N/A	NULL
5801	4506325	Disease	p.Arg457Gly	603317.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603317	DEAFNESS, AUTOSOMAL RECESSIVE 84; DFNB84	OMIM	251	smart00194	NULL
5801	4506325	Disease	p.Arg457Gly	603317.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603317	DEAFNESS, AUTOSOMAL RECESSIVE 84; DFNB84	OMIM	136	COG5599	NULL
5801	4506325	Disease	p.Arg457Gly	603317.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603317	DEAFNESS, AUTOSOMAL RECESSIVE 84; DFNB84	OMIM	94	pfam00102	NULL
5801	4506325	Disease	p.Arg457Gly	603317.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603317	DEAFNESS, AUTOSOMAL RECESSIVE 84; DFNB84	OMIM	99	cd00047	NULL
84920	74736030	Disease	p.Ile447Val	603313.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603313	LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO	OMIM	No Domain	N/A	147904264,NP_116223
8462	295148163	Disease	p.Ala349Ser	603301.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603301	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7	OMIM	No Domain	N/A	NULL
8462	11387048	Disease	p.Ala349Ser	603301.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603301	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7	OMIM	No Domain	N/A	4507503,NP_003588
8462	295148161	Disease	p.Ala349Ser	603301.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603301	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7	OMIM	No Domain	N/A	NULL
8462	295148163	Disease	p.Thr220Met	603301.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603301	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7	OMIM	No Domain	N/A	NULL
8462	11387048	Disease	p.Thr220Met	603301.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603301	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7	OMIM	No Domain	N/A	4507503,NP_003588
8462	295148161	Disease	p.Thr220Met	603301.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603301	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7	OMIM	No Domain	N/A	NULL
79659	122937398	Disease	p.Met1991Leu	603297.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603297	ASPHYXIATING THORACIC DYSTROPHY 3	OMIM	18	pfam07728	NULL
79659	311033479	Disease	p.Met1991Leu	603297.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603297	ASPHYXIATING THORACIC DYSTROPHY 3	OMIM	18	pfam07728	283806679,NP_001368
79659	122937398	Disease	p.Met3762Val	603297.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603297	ASPHYXIATING THORACIC DYSTROPHY 3	OMIM	197	pfam03028	NULL
79659	311033479	Disease	p.Met3762Val	603297.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603297	ASPHYXIATING THORACIC DYSTROPHY 3	OMIM	205	pfam03028	283806679,NP_001368
79659	122937398	Disease	p.Asp3015Gly	603297.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603297	ASPHYXIATING THORACIC DYSTROPHY 3	OMIM	No Domain	N/A	NULL
79659	311033479	Disease	p.Asp3015Gly	603297.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603297	ASPHYXIATING THORACIC DYSTROPHY 3	OMIM	No Domain	N/A	283806679,NP_001368
79659	122937398	Disease	p.Ile1240Thr	603297.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603297	ASPHYXIATING THORACIC DYSTROPHY 3	OMIM	216	pfam08393	NULL
79659	311033479	Disease	p.Ile1240Thr	603297.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603297	ASPHYXIATING THORACIC DYSTROPHY 3	OMIM	216	pfam08393	283806679,NP_001368
79659	122937398	Disease	p.Arg587Cys	603297.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603297	SHORT RIB-POLYDACTYLY SYNDROME, TYPE III	OMIM	607	pfam08385	NULL
79659	311033479	Disease	p.Arg587Cys	603297.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603297	SHORT RIB-POLYDACTYLY SYNDROME, TYPE III	OMIM	607	pfam08385	283806679,NP_001368
79659	122937398	Disease	p.Arg2205His	603297.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603297	SHORT RIB-POLYDACTYLY SYNDROME, TYPE III	OMIM	No Domain	N/A	NULL
79659	311033479	Disease	p.Arg2205His	603297.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603297	SHORT RIB-POLYDACTYLY SYNDROME, TYPE III	OMIM	No Domain	N/A	283806679,NP_001368
79659	122937398	Disease	p.Gln1537Arg	603297.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603297	SHORT RIB-POLYDACTYLY, TYPE III	OMIM	No Domain	N/A	NULL
79659	311033479	Disease	p.Gln1537Arg	603297.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603297	SHORT RIB-POLYDACTYLY, TYPE III	OMIM	No Domain	N/A	283806679,NP_001368
79659	122937398	Disease	p.Gly2461Val	603297.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603297	SHORT RIB-POLYDACTYLY, TYPE III	OMIM	No Domain	N/A	NULL
79659	311033479	Disease	p.Gly2461Val	603297.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603297	SHORT RIB-POLYDACTYLY, TYPE III	OMIM	No Domain	N/A	283806679,NP_001368
79659	122937398	Disease	p.Thr1987Ala	603297.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603297	SHORT RIB-POLYDACTYLY, TYPE III	OMIM	14	pfam07728	NULL
79659	311033479	Disease	p.Thr1987Ala	603297.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603297	SHORT RIB-POLYDACTYLY, TYPE III	OMIM	14	pfam07728	283806679,NP_001368
11081	20138539	Disease	p.Asn247Ser	603288.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603288	CORNEA PLANA 2	OMIM	No Domain	N/A	5901992,NP_008966
11081	20138539	Disease	p.Thr215Lys	603288.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603288	CORNEA PLANA 2	OMIM	No Domain	N/A	5901992,NP_008966
55163	37082126	Disease	p.Arg229Trp	603287.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603287	PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY	OMIM	24	pfam10590	8922498,NP_060599
55163	37082126	Disease	p.Arg229Trp	603287.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603287	PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY	OMIM	217	COG0259	8922498,NP_060599
8626	169234659	Disease	p.Arg204Trp	603273.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	43	pfam00870	NULL
8626	169234659	Disease	p.Arg204Trp	603273.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	50	cd08367	NULL
8626	169234661	Disease	p.Arg204Trp	603273.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	137	pfam00870	NULL
8626	169234661	Disease	p.Arg204Trp	603273.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	198	cd08367	NULL
8626	169234657	Disease	p.Arg204Trp	603273.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	43	pfam00870	NULL
8626	169234657	Disease	p.Arg204Trp	603273.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	50	cd08367	NULL
8626	169234663	Disease	p.Arg204Trp	603273.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	137	pfam00870	NULL
8626	169234663	Disease	p.Arg204Trp	603273.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	198	cd08367	NULL
8626	57013009	Disease	p.Arg204Trp	603273.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	43	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg204Trp	603273.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	50	cd08367	31543818,NP_003713
8626	169234665	Disease	p.Arg204Trp	603273.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	137	pfam00870	NULL
8626	169234665	Disease	p.Arg204Trp	603273.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	198	cd08367	NULL
8626	169234659	Disease	p.Arg204Gln	603273.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	43	pfam00870	NULL
8626	169234659	Disease	p.Arg204Gln	603273.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	50	cd08367	NULL
8626	169234661	Disease	p.Arg204Gln	603273.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	137	pfam00870	NULL
8626	169234661	Disease	p.Arg204Gln	603273.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	198	cd08367	NULL
8626	169234657	Disease	p.Arg204Gln	603273.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	43	pfam00870	NULL
8626	169234657	Disease	p.Arg204Gln	603273.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	50	cd08367	NULL
8626	169234663	Disease	p.Arg204Gln	603273.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	137	pfam00870	NULL
8626	169234663	Disease	p.Arg204Gln	603273.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	198	cd08367	NULL
8626	57013009	Disease	p.Arg204Gln	603273.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	43	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg204Gln	603273.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	50	cd08367	31543818,NP_003713
8626	169234665	Disease	p.Arg204Gln	603273.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	137	pfam00870	NULL
8626	169234665	Disease	p.Arg204Gln	603273.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	198	cd08367	NULL
8626	169234659	Disease	p.Cys306Arg	603273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	145	pfam00870	NULL
8626	169234659	Disease	p.Cys306Arg	603273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	206	cd08367	NULL
8626	169234661	Disease	p.Cys306Arg	603273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	16	pfam07710	NULL
8626	169234657	Disease	p.Cys306Arg	603273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	145	pfam00870	NULL
8626	169234657	Disease	p.Cys306Arg	603273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	206	cd08367	NULL
8626	169234663	Disease	p.Cys306Arg	603273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	16	pfam07710	NULL
8626	57013009	Disease	p.Cys306Arg	603273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	145	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Cys306Arg	603273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	206	cd08367	31543818,NP_003713
8626	169234665	Disease	p.Cys306Arg	603273.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	16	pfam07710	NULL
8626	169234659	Disease	p.Lys194Glu	603273.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	33	pfam00870	NULL
8626	169234659	Disease	p.Lys194Glu	603273.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	37	cd08367	NULL
8626	169234661	Disease	p.Lys194Glu	603273.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	127	pfam00870	NULL
8626	169234661	Disease	p.Lys194Glu	603273.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	184	cd08367	NULL
8626	169234657	Disease	p.Lys194Glu	603273.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	33	pfam00870	NULL
8626	169234657	Disease	p.Lys194Glu	603273.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	37	cd08367	NULL
8626	169234663	Disease	p.Lys194Glu	603273.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	127	pfam00870	NULL
8626	169234663	Disease	p.Lys194Glu	603273.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	184	cd08367	NULL
8626	57013009	Disease	p.Lys194Glu	603273.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	33	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Lys194Glu	603273.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	37	cd08367	31543818,NP_003713
8626	169234665	Disease	p.Lys194Glu	603273.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	127	pfam00870	NULL
8626	169234665	Disease	p.Lys194Glu	603273.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	184	cd08367	NULL
8626	169234659	Disease	p.Arg280Cys	603273.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	119	pfam00870	NULL
8626	169234659	Disease	p.Arg280Cys	603273.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	176	cd08367	NULL
8626	169234661	Disease	p.Arg280Cys	603273.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	No Domain	N/A	NULL
8626	169234657	Disease	p.Arg280Cys	603273.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	119	pfam00870	NULL
8626	169234657	Disease	p.Arg280Cys	603273.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	176	cd08367	NULL
8626	169234663	Disease	p.Arg280Cys	603273.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	No Domain	N/A	NULL
8626	57013009	Disease	p.Arg280Cys	603273.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	119	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg280Cys	603273.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	176	cd08367	31543818,NP_003713
8626	169234665	Disease	p.Arg280Cys	603273.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	No Domain	N/A	NULL
8626	169234659	Disease	p.Arg279His	603273.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||RAPP-HODGKIN SYNDROME	OMIM	118	pfam00870	NULL
8626	169234659	Disease	p.Arg279His	603273.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||RAPP-HODGKIN SYNDROME	OMIM	171	cd08367	NULL
8626	169234661	Disease	p.Arg279His	603273.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||RAPP-HODGKIN SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234657	Disease	p.Arg279His	603273.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||RAPP-HODGKIN SYNDROME	OMIM	118	pfam00870	NULL
8626	169234657	Disease	p.Arg279His	603273.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||RAPP-HODGKIN SYNDROME	OMIM	171	cd08367	NULL
8626	169234663	Disease	p.Arg279His	603273.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||RAPP-HODGKIN SYNDROME	OMIM	No Domain	N/A	NULL
8626	57013009	Disease	p.Arg279His	603273.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||RAPP-HODGKIN SYNDROME	OMIM	118	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg279His	603273.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||RAPP-HODGKIN SYNDROME	OMIM	171	cd08367	31543818,NP_003713
8626	169234665	Disease	p.Arg279His	603273.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||RAPP-HODGKIN SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234659	Disease	p.Arg304Gln	603273.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	143	pfam00870	NULL
8626	169234659	Disease	p.Arg304Gln	603273.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	204	cd08367	NULL
8626	169234661	Disease	p.Arg304Gln	603273.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	13	pfam07710	NULL
8626	169234657	Disease	p.Arg304Gln	603273.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	143	pfam00870	NULL
8626	169234657	Disease	p.Arg304Gln	603273.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	204	cd08367	NULL
8626	169234663	Disease	p.Arg304Gln	603273.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	13	pfam07710	NULL
8626	57013009	Disease	p.Arg304Gln	603273.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	143	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg304Gln	603273.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	204	cd08367	31543818,NP_003713
8626	169234665	Disease	p.Arg304Gln	603273.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	13	pfam07710	NULL
8626	169234659	Disease	p.Leu514Phe	603273.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE	OMIM	No Domain	N/A	NULL
8626	169234661	Disease	p.Leu514Phe	603273.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE	OMIM	No Domain	N/A	NULL
8626	169234657	Disease	p.Leu514Phe	603273.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE	OMIM	No Domain	N/A	NULL
8626	169234663	Disease	p.Leu514Phe	603273.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE	OMIM	No Domain	N/A	NULL
8626	57013009	Disease	p.Leu514Phe	603273.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE	OMIM	No Domain	N/A	31543818,NP_003713
8626	169234665	Disease	p.Leu514Phe	603273.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE	OMIM	No Domain	N/A	NULL
8626	169234659	Disease	p.Cys522Gly	603273.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE	OMIM	No Domain	N/A	NULL
8626	169234661	Disease	p.Cys522Gly	603273.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE	OMIM	No Domain	N/A	NULL
8626	169234657	Disease	p.Cys522Gly	603273.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE	OMIM	No Domain	N/A	NULL
8626	169234663	Disease	p.Cys522Gly	603273.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE	OMIM	No Domain	N/A	NULL
8626	57013009	Disease	p.Cys522Gly	603273.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE	OMIM	No Domain	N/A	31543818,NP_003713
8626	169234665	Disease	p.Cys522Gly	603273.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE	OMIM	No Domain	N/A	NULL
8626	169234659	Disease	p.Asn6His	603273.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234661	Disease	p.Asn6His	603273.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234657	Disease	p.Asn6His	603273.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234663	Disease	p.Asn6His	603273.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	No Domain	N/A	NULL
8626	57013009	Disease	p.Asn6His	603273.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	No Domain	N/A	31543818,NP_003713
8626	169234665	Disease	p.Asn6His	603273.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234659	Disease	p.Arg298Gln	603273.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	137	pfam00870	NULL
8626	169234659	Disease	p.Arg298Gln	603273.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	198	cd08367	NULL
8626	169234661	Disease	p.Arg298Gln	603273.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234657	Disease	p.Arg298Gln	603273.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	137	pfam00870	NULL
8626	169234657	Disease	p.Arg298Gln	603273.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	198	cd08367	NULL
8626	169234663	Disease	p.Arg298Gln	603273.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	No Domain	N/A	NULL
8626	57013009	Disease	p.Arg298Gln	603273.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	137	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg298Gln	603273.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	198	cd08367	31543818,NP_003713
8626	169234665	Disease	p.Arg298Gln	603273.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234659	Disease	p.Asp312Gly	603273.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	151	pfam00870	NULL
8626	169234659	Disease	p.Asp312Gly	603273.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	212	cd08367	NULL
8626	169234661	Disease	p.Asp312Gly	603273.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	22	pfam07710	NULL
8626	169234657	Disease	p.Asp312Gly	603273.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	151	pfam00870	NULL
8626	169234657	Disease	p.Asp312Gly	603273.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	212	cd08367	NULL
8626	169234663	Disease	p.Asp312Gly	603273.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	22	pfam07710	NULL
8626	57013009	Disease	p.Asp312Gly	603273.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	151	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Asp312Gly	603273.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	212	cd08367	31543818,NP_003713
8626	169234665	Disease	p.Asp312Gly	603273.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	OMIM	22	pfam07710	NULL
8626	169234659	Disease	p.Ile510Thr	603273.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE||RAPP-HODGKIN SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234661	Disease	p.Ile510Thr	603273.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE||RAPP-HODGKIN SYNDROME	OMIM	78	pfam07647	NULL
8626	169234661	Disease	p.Ile510Thr	603273.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE||RAPP-HODGKIN SYNDROME	OMIM	92	smart00454	NULL
8626	169234661	Disease	p.Ile510Thr	603273.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE||RAPP-HODGKIN SYNDROME	OMIM	82	cd00166	NULL
8626	169234657	Disease	p.Ile510Thr	603273.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE||RAPP-HODGKIN SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234663	Disease	p.Ile510Thr	603273.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE||RAPP-HODGKIN SYNDROME	OMIM	No Domain	N/A	NULL
8626	57013009	Disease	p.Ile510Thr	603273.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE||RAPP-HODGKIN SYNDROME	OMIM	No Domain	N/A	31543818,NP_003713
8626	169234665	Disease	p.Ile510Thr	603273.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE||RAPP-HODGKIN SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234659	Disease	p.Arg545Pro	603273.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	RAPP-HODGKIN SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234661	Disease	p.Arg545Pro	603273.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	RAPP-HODGKIN SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234657	Disease	p.Arg545Pro	603273.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	RAPP-HODGKIN SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234663	Disease	p.Arg545Pro	603273.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	RAPP-HODGKIN SYNDROME	OMIM	No Domain	N/A	NULL
8626	57013009	Disease	p.Arg545Pro	603273.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	RAPP-HODGKIN SYNDROME	OMIM	3	cd00166	31543818,NP_003713
8626	57013009	Disease	p.Arg545Pro	603273.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	RAPP-HODGKIN SYNDROME	OMIM	5	pfam07647	31543818,NP_003713
8626	57013009	Disease	p.Arg545Pro	603273.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	RAPP-HODGKIN SYNDROME	OMIM	5	smart00454	31543818,NP_003713
8626	169234665	Disease	p.Arg545Pro	603273.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	RAPP-HODGKIN SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234659	Disease	p.Val114Met	603273.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234661	Disease	p.Val114Met	603273.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	47	pfam00870	NULL
8626	169234661	Disease	p.Val114Met	603273.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	65	cd08367	NULL
8626	169234657	Disease	p.Val114Met	603273.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234663	Disease	p.Val114Met	603273.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	47	pfam00870	NULL
8626	169234663	Disease	p.Val114Met	603273.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	65	cd08367	NULL
8626	57013009	Disease	p.Val114Met	603273.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	No Domain	N/A	31543818,NP_003713
8626	169234665	Disease	p.Val114Met	603273.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	47	pfam00870	NULL
8626	169234665	Disease	p.Val114Met	603273.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	65	cd08367	NULL
8626	169234659	Disease	p.Arg313Gly	603273.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	OROFACIAL CLEFT 8	OMIM	152	pfam00870	NULL
8626	169234659	Disease	p.Arg313Gly	603273.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	OROFACIAL CLEFT 8	OMIM	213	cd08367	NULL
8626	169234661	Disease	p.Arg313Gly	603273.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	OROFACIAL CLEFT 8	OMIM	23	pfam07710	NULL
8626	169234657	Disease	p.Arg313Gly	603273.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	OROFACIAL CLEFT 8	OMIM	152	pfam00870	NULL
8626	169234657	Disease	p.Arg313Gly	603273.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	OROFACIAL CLEFT 8	OMIM	213	cd08367	NULL
8626	169234663	Disease	p.Arg313Gly	603273.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	OROFACIAL CLEFT 8	OMIM	23	pfam07710	NULL
8626	57013009	Disease	p.Arg313Gly	603273.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	OROFACIAL CLEFT 8	OMIM	152	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg313Gly	603273.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	OROFACIAL CLEFT 8	OMIM	213	cd08367	31543818,NP_003713
8626	169234665	Disease	p.Arg313Gly	603273.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	OROFACIAL CLEFT 8	OMIM	23	pfam07710	NULL
8626	169234659	Disease	p.Arg298Gly	603273.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	137	pfam00870	NULL
8626	169234659	Disease	p.Arg298Gly	603273.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	198	cd08367	NULL
8626	169234661	Disease	p.Arg298Gly	603273.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234657	Disease	p.Arg298Gly	603273.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	137	pfam00870	NULL
8626	169234657	Disease	p.Arg298Gly	603273.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	198	cd08367	NULL
8626	169234663	Disease	p.Arg298Gly	603273.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	No Domain	N/A	NULL
8626	57013009	Disease	p.Arg298Gly	603273.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	137	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg298Gly	603273.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	198	cd08367	31543818,NP_003713
8626	169234665	Disease	p.Arg298Gly	603273.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234659	Disease	p.Arg97Cys	603273.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	No Domain	N/A	NULL
8626	169234661	Disease	p.Arg97Cys	603273.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	30	pfam00870	NULL
8626	169234661	Disease	p.Arg97Cys	603273.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	34	cd08367	NULL
8626	169234657	Disease	p.Arg97Cys	603273.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	No Domain	N/A	NULL
8626	169234663	Disease	p.Arg97Cys	603273.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	30	pfam00870	NULL
8626	169234663	Disease	p.Arg97Cys	603273.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	34	cd08367	NULL
8626	57013009	Disease	p.Arg97Cys	603273.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	No Domain	N/A	31543818,NP_003713
8626	169234665	Disease	p.Arg97Cys	603273.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	30	pfam00870	NULL
8626	169234665	Disease	p.Arg97Cys	603273.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	SPLIT-HAND/FOOT MALFORMATION 4	OMIM	34	cd08367	NULL
8626	169234659	Disease	p.Arg227Gln	603273.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||ADULT SYNDROME	OMIM	66	pfam00870	NULL
8626	169234659	Disease	p.Arg227Gln	603273.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||ADULT SYNDROME	OMIM	98	cd08367	NULL
8626	169234661	Disease	p.Arg227Gln	603273.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||ADULT SYNDROME	OMIM	160	pfam00870	NULL
8626	169234661	Disease	p.Arg227Gln	603273.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||ADULT SYNDROME	OMIM	223	cd08367	NULL
8626	169234657	Disease	p.Arg227Gln	603273.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||ADULT SYNDROME	OMIM	66	pfam00870	NULL
8626	169234657	Disease	p.Arg227Gln	603273.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||ADULT SYNDROME	OMIM	98	cd08367	NULL
8626	169234663	Disease	p.Arg227Gln	603273.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||ADULT SYNDROME	OMIM	160	pfam00870	NULL
8626	169234663	Disease	p.Arg227Gln	603273.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||ADULT SYNDROME	OMIM	223	cd08367	NULL
8626	57013009	Disease	p.Arg227Gln	603273.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||ADULT SYNDROME	OMIM	66	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg227Gln	603273.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||ADULT SYNDROME	OMIM	98	cd08367	31543818,NP_003713
8626	169234665	Disease	p.Arg227Gln	603273.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||ADULT SYNDROME	OMIM	160	pfam00870	NULL
8626	169234665	Disease	p.Arg227Gln	603273.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3||ADULT SYNDROME	OMIM	223	cd08367	NULL
8626	169234659	Disease	p.Pro127Leu	603273.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234661	Disease	p.Pro127Leu	603273.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	60	pfam00870	NULL
8626	169234661	Disease	p.Pro127Leu	603273.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	92	cd08367	NULL
8626	169234657	Disease	p.Pro127Leu	603273.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	No Domain	N/A	NULL
8626	169234663	Disease	p.Pro127Leu	603273.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	60	pfam00870	NULL
8626	169234663	Disease	p.Pro127Leu	603273.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	92	cd08367	NULL
8626	57013009	Disease	p.Pro127Leu	603273.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	No Domain	N/A	31543818,NP_003713
8626	169234665	Disease	p.Pro127Leu	603273.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	60	pfam00870	NULL
8626	169234665	Disease	p.Pro127Leu	603273.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603273	ADULT SYNDROME	OMIM	92	cd08367	NULL
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	3	cd05063	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	3	cd05048	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	4	cd05073	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	4	cd05068	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	3	cd05091	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	4	cd05067	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	4	cd05061	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	3	cd05094	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	3	cd05093	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	3	cd05036	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	4	cd05062	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	15	cd05098	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	8	cd06614	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	29	smart00467	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	32	pfam08515	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	22	cd06639	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	4	cd05111	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	5	cd07864	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	4	cd06637	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	11	cd07865	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	17	cd06648	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	5_G	cd05056	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	7	cd06624	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	13	cd07851	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	9	cd05099	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	9	cd05053	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	9	cd05088	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	9	cd06638	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	2	cd05033	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	2	cd05112	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	3	cd07844	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	3	cd05072	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	3	cd05070	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	3	cd05069	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	3	cd05071	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	2	cd05038	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	10	cd05090	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	5	cd05057	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	6_G	cd05052	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	4_G	cd05092	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	14	cd06636	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	7	cd06646	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	7	cd06645	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	6	cd07866	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	603248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	4_G	cd05049	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	275	cd05035	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	278	cd05075	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	264	cd05074	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	309	cd07835	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	1076	smart00221	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	695	smart00219	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	477	pfam07714	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	467	pfam00069	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	260	cd05063	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	284	cd05048	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	253	cd05073	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	258	cd05068	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	275	cd05091	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	278	cd05067	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	271	cd05061	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	334	cd05094	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	271	cd05093	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	273	cd05036	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	270	cd05062	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	518	cd00192	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	258	cd05058	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	247	cd05116	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	254	cd05060	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	260	cd05047	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	245	cd05084	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	268	cd05044	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	247	cd05041	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	264	cd05040	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	244	cd05085	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	266	cd05042	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	291	cd05098	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	317	cd06614	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	269	cd06611	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	303	cd06626	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	288	cd05148	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	293	cd07831	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	276	cd06632	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	348	cd07838	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	512	cd07834	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	346	cd07849	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	265	cd06613	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	290	cd06639	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	1227	smart00220	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	277	cd05111	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	297_G	cd07864	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	265	cd06637	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	279	cd07839	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	276	cd07836	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	391	cd05055	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	333	cd07841	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	282	cd05578	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	301	cd07857	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	254_G	cd08530	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	281	cd05583	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	293	cd05613	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	275_G	cd07860	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	286	cd07861	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	319	cd05032	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	284	cd07863	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	269	cd06648	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	337	cd05572	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	267	cd05606	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	924	cd05123	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	866	cd00180	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	289	cd05056	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	268	cd06624	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	327	cd07851	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	285	cd05099	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	302	cd05053	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	293	cd05088	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	281	cd06638	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	294	cd05033	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	250	cd05112	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	281	cd07844	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	253	cd05072	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	252	cd05070	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	252	cd05069	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	252	cd05071	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	325	cd05038	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	301	cd07846	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	334	cd06623	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	309	cd07845	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	297	cd06609	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	321	cd06615	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	269	cd06917	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	267	cd05089	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	334	cd06622	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	246	cd05083	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	265	cd05034	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	277	cd06617	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	273	cd05080	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	338	cd05046	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	288	cd07862	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	295	cd07837	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	297	cd07847	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	284	cd05050	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	288	cd06610	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	247	cd05115	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	275	cd05090	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	258	cd06640	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	260_G	cd06642	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	258	cd05064	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	275	cd05081	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	260	cd05065	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	275	cd05079	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	258	cd05066	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	252	cd05059	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	251	cd05113	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	250	cd05114	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	248	cd05082	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	259	cd05039	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	262	cd08224	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	301	cd05095	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	270	cd06641	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	314	cd05057	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	254	cd05052	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	281	cd05092	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	276	cd06636	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	261	cd06646	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	261	cd06645	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	346	cd07866	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	603248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE A2	OMIM	293	cd05049	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	275	cd05035	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	278	cd05075	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	264	cd05074	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	309	cd07835	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	1076	smart00221	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	695	smart00219	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	477	pfam07714	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	467	pfam00069	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	260	cd05063	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	284	cd05048	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	253	cd05073	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	258	cd05068	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	275	cd05091	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	278	cd05067	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	271	cd05061	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	334	cd05094	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	271	cd05093	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	273	cd05036	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	270	cd05062	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	518	cd00192	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	258	cd05058	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	247	cd05116	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	254	cd05060	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	260	cd05047	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	245	cd05084	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	268	cd05044	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	247	cd05041	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	264	cd05040	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	244	cd05085	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	266	cd05042	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	291	cd05098	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	317	cd06614	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	269	cd06611	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	303	cd06626	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	288	cd05148	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	293	cd07831	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	276	cd06632	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	348	cd07838	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	512	cd07834	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	346	cd07849	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	265	cd06613	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	290	cd06639	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	1227	smart00220	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	277	cd05111	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	297_G	cd07864	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	265	cd06637	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	279	cd07839	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	276	cd07836	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	391	cd05055	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	333	cd07841	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	282	cd05578	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	301	cd07857	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	254_G	cd08530	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	281	cd05583	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	293	cd05613	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	275_G	cd07860	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	286	cd07861	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	319	cd05032	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	284	cd07863	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	269	cd06648	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	337	cd05572	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	267	cd05606	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	924	cd05123	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	866	cd00180	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	289	cd05056	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	268	cd06624	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	327	cd07851	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	285	cd05099	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	302	cd05053	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	293	cd05088	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	281	cd06638	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	294	cd05033	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	250	cd05112	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	281	cd07844	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	253	cd05072	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	252	cd05070	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	252	cd05069	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	252	cd05071	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	325	cd05038	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	301	cd07846	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	334	cd06623	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	309	cd07845	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	297	cd06609	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	321	cd06615	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	269	cd06917	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	267	cd05089	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	334	cd06622	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	246	cd05083	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	265	cd05034	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	277	cd06617	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	273	cd05080	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	338	cd05046	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	288	cd07862	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	295	cd07837	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	297	cd07847	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	284	cd05050	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	288	cd06610	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	247	cd05115	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	275	cd05090	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	258	cd06640	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	260_G	cd06642	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	258	cd05064	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	275	cd05081	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	260	cd05065	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	275	cd05079	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	258	cd05066	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	252	cd05059	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	251	cd05113	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	250	cd05114	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	248	cd05082	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	259	cd05039	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	262	cd08224	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	301	cd05095	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	270	cd06641	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	314	cd05057	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	254	cd05052	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	281	cd05092	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	276	cd06636	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	261	cd06646	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	261	cd06645	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	346	cd07866	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	603248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603248	BRACHYDACTYLY, TYPE 2A	OMIM	293	cd05049	4502431,NP_001194
368	190343023	Disease	p.Arg1138Gln	603234.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	287	pfam00664	NULL
368	190343023	Disease	p.Arg1138Gln	603234.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	137	COG1123	NULL
368	190343023	Disease	p.Arg1138Gln	603234.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	82	COG4172	NULL
368	190343023	Disease	p.Arg1138Gln	603234.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	223	COG4987	NULL
368	190343023	Disease	p.Arg1138Gln	603234.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	437	COG4178	NULL
368	190343023	Disease	p.Arg1138Gln	603234.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	652	COG1132	NULL
368	190343023	Disease	p.Arg1138Gln	603234.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	205	COG4615	NULL
368	190343023	Disease	p.Arg1138Gln	603234.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	136	COG5265	NULL
368	190343023	Disease	p.Arg1138Gln	603234.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	384	COG2274	NULL
368	190343023	Disease	p.Arg1138Gln	603234.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	194	COG4988	NULL
368	118582251	Disease	p.Arg1138Gln	603234.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	No Domain	N/A	NULL
368	190343023	Disease	p.Arg1114Pro	603234.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	249	pfam00664	NULL
368	190343023	Disease	p.Arg1114Pro	603234.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	100	COG1123	NULL
368	190343023	Disease	p.Arg1114Pro	603234.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	36	COG4172	NULL
368	190343023	Disease	p.Arg1114Pro	603234.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	199	COG4987	NULL
368	190343023	Disease	p.Arg1114Pro	603234.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	415	COG4178	NULL
368	190343023	Disease	p.Arg1114Pro	603234.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	605	COG1132	NULL
368	190343023	Disease	p.Arg1114Pro	603234.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	182	COG4615	NULL
368	190343023	Disease	p.Arg1114Pro	603234.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	112	COG5265	NULL
368	190343023	Disease	p.Arg1114Pro	603234.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	361	COG2274	NULL
368	190343023	Disease	p.Arg1114Pro	603234.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	168	COG4988	NULL
368	118582251	Disease	p.Arg1114Pro	603234.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	No Domain	N/A	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	100	COG1119	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	50	cd03217	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	59	COG1117	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	55	COG1121	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	54	COG4598	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	49_G	COG3840	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	62	cd03248	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	524	COG1123	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	127	cd03288	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	27	smart00382	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	50	cd03219	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	51	cd03256	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	64	COG4674	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	49	COG4604	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	90	cd03220	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	72	cd03259	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	50	cd03247	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	62	cd03266	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	72	cd03267	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	48	cd03269	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	42	cd03298	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	49	cd03268	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	69	cd03264	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	51	COG4619	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	72	cd03229	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	50	cd03290	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	82	cd03228	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	120	cd03250	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	55	cd03293	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	77	cd03294	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	50	cd03261	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	53	cd03251	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	50	cd03295	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	52	cd03260	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	69	cd03253	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	53	COG4555	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	57	COG1101	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	51	cd03252	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	51	cd03249	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	50	cd03224	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	58	cd03216	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	76	cd03263	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	50	cd03262	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	61	cd03255	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	72	cd03230	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	60	cd03223	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	50	cd03292	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	53	cd03246	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	49	cd03218	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	56	cd03369	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	56	COG1120	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	52	cd03289	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	54	cd03245	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	54	cd03244	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	60	COG1126	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	51	cd03254	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	79	cd03215	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	50	cd03226	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	50	cd03235	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	65	cd03225	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	105	cd00267	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	64	cd03214	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	60	COG1122	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	67	cd03213	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	65	cd03234	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	62	COG1124	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	343	COG4172	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	48	cd03265	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	58	COG1137	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	403	COG4987	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	682	COG4178	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	1230	COG1132	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	385	COG4615	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	77	COG1131	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	65	cd03257	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	68	COG1136	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	58	COG0444	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	52	COG0410	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	61	COG4167	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	50	COG4161	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	56	COG1135	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	73	COG4608	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	56	cd03258	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	51	COG2884	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	314	COG5265	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	9	pfam00005	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	590	COG2274	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	56	COG0411	NULL
368	190343023	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	383	COG4988	NULL
368	118582251	Disease	p.Arg1314Trp	603234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	No Domain	N/A	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	56	COG1119	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	11	COG1117	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	8	COG1121	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	10	COG4598	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	15	cd03248	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	459	COG1123	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	81	cd03288	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03256	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	COG4674	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	5	COG4604	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03220	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03259	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03247	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	5	cd03266	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03267	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03269	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03298	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03268	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03264	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	7	COG4619	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03229	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03290	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03228	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03250	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03293	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03294	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03261	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03251	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03295	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03260	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03253	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	5	COG4555	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	5	COG1101	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03252	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03249	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03224	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03216	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03263	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03262	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03255	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03230	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03223	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03292	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03246	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	4	cd03218	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	10	cd03369	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	6	COG1120	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	6	cd03289	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	6	cd03245	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	6	cd03244	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	6	COG1126	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	6	cd03254	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	6	cd03215	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	3	cd03226	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	3	cd03235	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	3	cd03225	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	3	cd00267	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	3	cd03214	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	7	COG1122	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	7	cd03213	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	7	cd03234	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	7	COG1124	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	290	COG4172	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	357	COG4987	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	606	COG4178	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	1065	COG1132	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	336	COG4615	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	8	COG1131	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	5	cd03257	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	13	COG1136	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	5	COG0444	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	7	COG0410	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	15	COG4167	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	6	COG4161	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	5	COG1135	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	12	COG4608	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	5	cd03258	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	5	COG2884	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	269	COG5265	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	543	COG2274	NULL
368	190343023	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	337	COG4988	NULL
368	118582251	Disease	p.Arg1268Gln	603234.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	No Domain	N/A	NULL
368	190343023	Disease	p.Arg1138Trp	603234.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	287	pfam00664	NULL
368	190343023	Disease	p.Arg1138Trp	603234.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	137	COG1123	NULL
368	190343023	Disease	p.Arg1138Trp	603234.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	82	COG4172	NULL
368	190343023	Disease	p.Arg1138Trp	603234.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	223	COG4987	NULL
368	190343023	Disease	p.Arg1138Trp	603234.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	437	COG4178	NULL
368	190343023	Disease	p.Arg1138Trp	603234.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	652	COG1132	NULL
368	190343023	Disease	p.Arg1138Trp	603234.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	205	COG4615	NULL
368	190343023	Disease	p.Arg1138Trp	603234.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	136	COG5265	NULL
368	190343023	Disease	p.Arg1138Trp	603234.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	384	COG2274	NULL
368	190343023	Disease	p.Arg1138Trp	603234.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	194	COG4988	NULL
368	118582251	Disease	p.Arg1138Trp	603234.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	No Domain	N/A	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	129	COG1119	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	76	cd03217	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	96	COG1117	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	79	COG1121	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	92	COG4598	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	70	COG3840	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	87	cd03248	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	561	COG1123	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	152	cd03288	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	89	smart00382	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	80	cd03219	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	84	cd03256	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	90	COG4674	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	74	COG4604	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	113_G	cd03220	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	102	cd03259	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	75	cd03247	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	87	cd03266	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	93	cd03267	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	70	cd03269	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	69	cd03298	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	76	cd03268	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	96	cd03264	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	76	COG4619	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	115	cd03229	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	87	cd03290	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	194	cd03228	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	158	cd03250	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	103	cd03293	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	106	cd03294	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	78	cd03261	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	78	cd03251	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	75	cd03295	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	90	cd03260	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	94	cd03253	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	77	COG4555	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	79	COG1101	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	76	cd03252	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	152	cd03249	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	86	cd03224	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	97	cd03216	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	126	cd03263	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	88	cd03262	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	98	cd03255	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	100	cd03230	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	119	cd03223	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	78	cd03292	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	78	cd03246	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	73	cd03218	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	81	cd03369	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	124	COG1120	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	76	cd03289	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	79	cd03245	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	88	cd03244	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	98	COG1126	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	76	cd03254	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	199	cd03215	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	98	cd03226	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	74	cd03235	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	111	cd03225	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	220	cd00267	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	134	cd03214	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	414	COG1122	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	95	cd03213	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	102	cd03234	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	96	COG1124	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	371	COG4172	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	72	cd03265	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	79	COG1137	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	428	COG4987	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	712	COG4178	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	1263	COG1132	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	410	COG4615	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	106	COG1131	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	246	cd03257	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	102	COG1136	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	228	COG0444	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	86	COG0410	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	86	COG4167	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	82	COG4161	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	93	COG1135	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	148	COG4608	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	90	cd03258	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	79	COG2884	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	339	COG5265	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	52	pfam00005	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	615	COG2274	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	107	COG0411	NULL
368	190343023	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	409	COG4988	NULL
368	118582251	Disease	p.Arg1339Cys	603234.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	No Domain	N/A	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	266	COG1119	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	225	cd03217	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	233	COG1117	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	214	COG1121	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	212	COG4598	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	189	COG3840	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	269	cd03248	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	738	COG1123	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	272	cd03288	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	651	smart00382	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	237	cd03219	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	216	cd03256	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	217	COG4674	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	180	COG4604	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	227	cd03220	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	229	cd03259	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	202	cd03247	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	208	cd03266	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	216	cd03267	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	188	cd03269	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	188	cd03298	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	196	cd03268	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	215	cd03264	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	199	COG4619	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	244	cd03229	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	212	cd03290	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	374	cd03228	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	315	cd03250	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	239	cd03293	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	226	cd03294	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	217	cd03261	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	216	cd03251	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	196	cd03295	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	229	cd03260	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	223	cd03253	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	196	COG4555	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	208	COG1101	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	197	cd03252	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	328	cd03249	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	217	cd03224	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	236	cd03216	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	282	cd03263	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	211	cd03262	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	230	cd03255	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	231	cd03230	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	340	cd03223	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	196	cd03292	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	200	cd03246	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	204	cd03218	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	234	cd03369	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	258	COG1120	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	213	cd03289	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	201	cd03245	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	245	cd03244	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	219	COG1126	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	199	cd03254	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	364	cd03215	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	215	cd03226	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	208	cd03235	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	237	cd03225	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	1356	cd00267	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	273	cd03214	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	546	COG1122	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	305	cd03213	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	309	cd03234	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	309	COG1124	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	495	COG4172	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	190_G	cd03265	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	209	COG1137	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	553	COG4987	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	875	COG4178	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	1453	COG1132	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	523	COG4615	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	260	COG1131	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	470	cd03257	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	236	COG1136	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	523	COG0444	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	220	COG0410	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	215_G	COG4167	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	201	COG4161	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	227	COG1135	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	804	COG4608	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	211	cd03258	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	197	COG2884	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	462	COG5265	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	738	COG2274	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	264	COG0411	NULL
368	190343023	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	533	COG4988	NULL
368	118582251	Disease	p.Arg1459Cys	603234.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	No Domain	N/A	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	84	COG1119	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	34	cd03217	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	43	COG1117	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	39	COG1121	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	38	COG4598	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	31	COG3840	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	46	cd03248	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	508	COG1123	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	111	cd03288	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	8	smart00382	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	34	cd03219	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	35	cd03256	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	45	COG4674	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	33	COG4604	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	74	cd03220	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	56	cd03259	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	34	cd03247	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	46	cd03266	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	53	cd03267	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	32	cd03269	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	30	cd03298	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	33	cd03268	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	53	cd03264	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	35	COG4619	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	56	cd03229	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	34	cd03290	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	66	cd03228	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	104	cd03250	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	39	cd03293	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	61	cd03294	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	34	cd03261	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	37	cd03251	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	34	cd03295	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	36	cd03260	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	53	cd03253	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	37	COG4555	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	38	COG1101	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	35	cd03252	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	35	cd03249	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	34	cd03224	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	42	cd03216	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	60	cd03263	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	34	cd03262	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	45	cd03255	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	56	cd03230	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	48	cd03223	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	34	cd03292	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	37	cd03246	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	32	cd03218	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	40	cd03369	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	40	COG1120	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	36	cd03289	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	38	cd03245	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	38	cd03244	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	41	COG1126	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	35	cd03254	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	63	cd03215	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	34	cd03226	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	34	cd03235	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	49	cd03225	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	89	cd00267	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	48	cd03214	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	41	COG1122	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	48	cd03213	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	46	cd03234	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	46	COG1124	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	327	COG4172	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	32	cd03265	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	39	COG1137	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	387	COG4987	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	670	COG4178	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	1212	COG1132	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	369	COG4615	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	61	COG1131	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	49	cd03257	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	49	COG1136	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	42	COG0444	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	36	COG0410	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	45	COG4167	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	34	COG4161	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	40	COG1135	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	57	COG4608	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	40	cd03258	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	35	COG2884	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	298	COG5265	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	574	COG2274	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	37	COG0411	NULL
368	190343023	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	367	COG4988	NULL
368	118582251	Disease	p.Val1298Phe	603234.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	No Domain	N/A	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	88	COG1119	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	38	cd03217	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	47	COG1117	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	43	COG1121	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	42	COG4598	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	35	COG3840	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	50	cd03248	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	512	COG1123	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	115	cd03288	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	13	smart00382	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	38	cd03219	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	39	cd03256	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	49	COG4674	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	37	COG4604	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	78	cd03220	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	60	cd03259	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	38	cd03247	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	50	cd03266	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	57	cd03267	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	36	cd03269	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	34	cd03298	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	37	cd03268	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	57	cd03264	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	39	COG4619	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	60	cd03229	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	38	cd03290	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	70	cd03228	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	108	cd03250	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	43	cd03293	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	65	cd03294	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	38	cd03261	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	41	cd03251	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	38	cd03295	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	40	cd03260	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	57	cd03253	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	41	COG4555	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	42	COG1101	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	39	cd03252	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	39	cd03249	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	38	cd03224	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	46	cd03216	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	64	cd03263	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	38	cd03262	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	49	cd03255	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	60	cd03230	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	52	cd03223	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	38	cd03292	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	41	cd03246	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	36	cd03218	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	44	cd03369	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	44	COG1120	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	40	cd03289	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	42	cd03245	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	42	cd03244	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	48	COG1126	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	39	cd03254	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	67	cd03215	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	38	cd03226	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	38	cd03235	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	53	cd03225	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	93	cd00267	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	52	cd03214	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	45	COG1122	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	52	cd03213	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	50	cd03234	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	50	COG1124	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	331	COG4172	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	36	cd03265	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	43	COG1137	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	391	COG4987	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	674	COG4178	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	1216	COG1132	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	373	COG4615	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	65	COG1131	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	53	cd03257	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	53	COG1136	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	46	COG0444	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	40	COG0410	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	49	COG4167	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	38	COG4161	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	44	COG1135	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	61	COG4608	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	44	cd03258	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	39	COG2884	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	302	COG5265	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	578	COG2274	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	41	COG0411	NULL
368	190343023	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	371	COG4988	NULL
368	118582251	Disease	p.Gly1302Arg	603234.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	No Domain	N/A	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	108	COG1119	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	59	cd03217	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	72	COG1117	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	62	COG1121	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	61	COG4598	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	54	COG3840	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	69	cd03248	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	532	COG1123	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	134	cd03288	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	64	smart00382	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	57	cd03219	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	58	cd03256	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	72	COG4674	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	56	COG4604	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	97	cd03220	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	80	cd03259	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	57	cd03247	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	69	cd03266	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	76	cd03267	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	55	cd03269	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	53	cd03298	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	56	cd03268	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	77	cd03264	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	58	COG4619	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	84	cd03229	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	57	cd03290	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	107	cd03228	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	131	cd03250	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	62	cd03293	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	84	cd03294	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	57	cd03261	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	60	cd03251	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	57	cd03295	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	65	cd03260	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	76	cd03253	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	60	COG4555	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	61	COG1101	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	58	cd03252	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	87	cd03249	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	62	cd03224	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	70	cd03216	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	100	cd03263	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	57	cd03262	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	71	cd03255	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	79	cd03230	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	63	cd03223	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	57	cd03292	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	60	cd03246	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	56	cd03218	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	63	cd03369	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	64	COG1120	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	58	cd03289	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	61	cd03245	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	64	cd03244	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	67	COG1126	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	58	cd03254	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	90	cd03215	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	58	cd03226	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	57	cd03235	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	78	cd03225	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	151	cd00267	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	74	cd03214	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	227	COG1122	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	76	cd03213	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	77	cd03234	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	70	COG1124	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	350	COG4172	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	55	cd03265	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	62	COG1137	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	410	COG4987	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	685	COG4178	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	1239	COG1132	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	392	COG4615	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	87	COG1131	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	86	cd03257	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	73	COG1136	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	69	COG0444	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	62	COG0410	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	68	COG4167	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	57	COG4161	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	63	COG1135	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	82	COG4608	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	63	cd03258	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	58	COG2884	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	321	COG5265	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	22	pfam00005	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	597	COG2274	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	60	COG0411	NULL
368	190343023	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	391	COG4988	NULL
368	118582251	Disease	p.Gly1321Ser	603234.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	No Domain	N/A	NULL
368	190343023	Disease	p.Asp1238His	603234.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	3	COG1119	NULL
368	190343023	Disease	p.Asp1238His	603234.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	349	COG1123	NULL
368	190343023	Disease	p.Asp1238His	603234.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	50	cd03288	NULL
368	190343023	Disease	p.Asp1238His	603234.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	253	COG4172	NULL
368	190343023	Disease	p.Asp1238His	603234.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	328	COG4987	NULL
368	190343023	Disease	p.Asp1238His	603234.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	556	COG4178	NULL
368	190343023	Disease	p.Asp1238His	603234.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	926	COG1132	NULL
368	190343023	Disease	p.Asp1238His	603234.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	306	COG4615	NULL
368	190343023	Disease	p.Asp1238His	603234.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	238	COG5265	NULL
368	190343023	Disease	p.Asp1238His	603234.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	492	COG2274	NULL
368	190343023	Disease	p.Asp1238His	603234.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	305	COG4988	NULL
368	118582251	Disease	p.Asp1238His	603234.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	No Domain	N/A	NULL
368	190343023	Disease	p.Thr1130Met	603234.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	279	pfam00664	NULL
368	190343023	Disease	p.Thr1130Met	603234.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	121	COG1123	NULL
368	190343023	Disease	p.Thr1130Met	603234.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	74	COG4172	NULL
368	190343023	Disease	p.Thr1130Met	603234.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	215	COG4987	NULL
368	190343023	Disease	p.Thr1130Met	603234.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	429	COG4178	NULL
368	190343023	Disease	p.Thr1130Met	603234.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	644	COG1132	NULL
368	190343023	Disease	p.Thr1130Met	603234.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	197	COG4615	NULL
368	190343023	Disease	p.Thr1130Met	603234.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	128	COG5265	NULL
368	190343023	Disease	p.Thr1130Met	603234.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	376	COG2274	NULL
368	190343023	Disease	p.Thr1130Met	603234.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	186	COG4988	NULL
368	118582251	Disease	p.Thr1130Met	603234.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603234	PSEUDOXANTHOMA ELASTICUM	OMIM	No Domain	N/A	NULL
8419	17366451	Disease	p.Arg287Trp	603212.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603212	CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1	OMIM	250	pfam00038	4502995,NP_003562
3769	289547204	Disease	p.Arg162Trp	603208.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603208	SNOWFLAKE VITREORETINAL DEGENERATION	OMIM	247	pfam01007	NULL
3769	13878543	Disease	p.Arg162Trp	603208.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603208	SNOWFLAKE VITREORETINAL DEGENERATION	OMIM	163	pfam01007	156119627,NP_002233
3769	289547202	Disease	p.Arg162Trp	603208.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603208	SNOWFLAKE VITREORETINAL DEGENERATION	OMIM	No Domain	N/A	NULL
3938	311033425	Disease	p.Gln268His	603202.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603202	LACTASE DEFICIENCY, CONGENITAL	OMIM	No Domain	N/A	32481206,NP_002290
8647	262527527	Disease	p.Glu297Gly	603201.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2||CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	657	COG1132	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	603201.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2||CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	239	COG4618	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	603201.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2||CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	228	COG4987	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	603201.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2||CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	173	COG1123	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	603201.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2||CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	199	COG4988	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	603201.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2||CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	141	COG5265	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	603201.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2||CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	389	COG2274	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	603201.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2||CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	198	COG4615	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	603201.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2||CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	292	pfam00664	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	25_G	COG4674	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	6	cd03222	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	22	COG4181	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	21	COG4778	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	17	COG1121	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	22	COG4175	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	1074	COG1132	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	378	COG4618	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	366	COG4987	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03244	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	16	COG1120	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	17	COG4608	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	12_G	COG4152	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	19	COG1126	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	15	COG1118	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	15	cd03245	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	15	cd03289	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	17	COG4525	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13_G	COG4136	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03254	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	15	COG4133	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	8_G	cd03297	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	65	COG1119	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	3	COG0411	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	3	cd03238	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	12	cd03226	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	12	cd00267	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	12	cd03225	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	14	cd03235	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	12	cd03214	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	16_G	COG4598	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	20	COG4107	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	27_G	COG1129	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	24	cd03248	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	20	COG1137	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	486	COG1123	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	31_G	COG1127	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	26	COG3842	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	47	cd03291	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03260	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	10_G	cd03224	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	16	COG4619	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03298	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03220	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	31	cd03267	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03264	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03259	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03301	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03247	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	10_G	cd03265	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	12_G	cd03216	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03251	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03294	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	15	COG4555	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03256	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03295	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03263	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	10	cd03231	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03261	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	10_G	cd03219	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03218	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	14	COG4604	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	15_G	COG3845	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03253	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	11	cd03252	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03249	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03221	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03250	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03228	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	34	cd03229	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03290	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	14	COG2884	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03293	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03300	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	11_G	cd03292	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03230	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03223	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03255	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03246	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	cd03262	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	346	COG4988	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	21	COG1117	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	276	COG5265	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	22	COG1136	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	14	cd03257	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	14	COG0444	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	15	COG4161	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	11_G	COG3840	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	16	COG1125	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	21	COG4172	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	14	cd03258	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	38	COG1131	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	14	COG4559	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	14_G	cd03296	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	17	COG1135	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	552	COG2274	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	342_G	COG4615	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13_G	COG0410	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	17	cd03369	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	16	COG1122	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	16	COG3638	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	16	COG1116	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	16	COG3839	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	16	cd03213	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	16	cd03233	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	17	cd03232	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	15	COG0488	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	16	COG1124	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	31	COG4586	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	5	cd03271	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	13	COG0396	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	603201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603201	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2	OMIM	90	cd03288	21536378,NP_003733
8625	19924156	Disease	p.Asp121Val	603200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603200	BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B	OMIM	104	COG0666	NULL
8625	19924156	Disease	p.Asp121Val	603200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603200	BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B	OMIM	51	cd00204	NULL
8625	19924156	Disease	p.Asp121Val	603200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603200	BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B	OMIM	44	pfam00023	NULL
8625	6093962	Disease	p.Asp121Val	603200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603200	BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B	OMIM	4	cd00204	4506499,NP_003712
8625	6093962	Disease	p.Asp121Val	603200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603200	BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B	OMIM	70	COG0666	4506499,NP_003712
10908	116256487	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	147	cd07209	NULL
10908	116256487	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	104	cd07208	NULL
10908	116256487	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	294	pfam01734	NULL
10908	116256487	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	164	cd01819	NULL
10908	116256487	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	123	cd07198	NULL
10908	116256487	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	97	cd07225	NULL
10908	116256487	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	156	COG1752	NULL
10908	116256487	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	224	cd07207	NULL
10908	116256487	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	125	cd07199	NULL
10908	116256487	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	91	cd07210	NULL
10908	116256487	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	81	cd07228	NULL
10908	116256487	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	114	cd07205	NULL
10908	116256487	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	92	cd07227	NULL
10908	260656039	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	349	cd07207	NULL
10908	260656039	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	255	cd07199	NULL
10908	260656039	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	109	cd07228	NULL
10908	260656039	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	164	cd07205	NULL
10908	260656039	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	120	cd07210	NULL
10908	260656039	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	219	COG1752	NULL
10908	260656039	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	164	cd07208	NULL
10908	260656039	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	357	pfam01734	NULL
10908	260656039	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	293	cd01819	NULL
10908	260656039	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	228	cd07198	NULL
10908	260656039	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	189	cd07209	NULL
10908	260656039	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	119	cd07227	NULL
10908	260656039	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	124	cd07225	NULL
10908	260656041	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	147	cd07209	NULL
10908	260656041	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	104	cd07208	NULL
10908	260656041	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	294	pfam01734	NULL
10908	260656041	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	164	cd01819	NULL
10908	260656041	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	123	cd07198	NULL
10908	260656041	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	97	cd07225	NULL
10908	260656041	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	156	COG1752	NULL
10908	260656041	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	224	cd07207	NULL
10908	260656041	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	125	cd07199	NULL
10908	260656041	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	91	cd07210	NULL
10908	260656041	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	81	cd07228	NULL
10908	260656041	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	114	cd07205	NULL
10908	260656041	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	92	cd07227	NULL
10908	260656037	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	75	pfam01734	NULL
10908	260656037	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	45	cd01819	NULL
10908	260656037	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	36	cd07198	NULL
10908	260656037	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	40	cd07209	NULL
10908	260656037	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	38	cd07208	NULL
10908	260656037	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	44	cd07227	NULL
10908	260656037	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	77	COG1752	NULL
10908	260656037	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	41	cd07207	NULL
10908	260656037	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	58	cd07199	NULL
10908	260656037	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	49	cd07225	NULL
10908	260656037	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	34	cd07228	NULL
10908	260656037	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	34	cd07205	NULL
10908	260656037	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	35	cd07210	NULL
10908	260656043	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	59	cd07225	NULL
10908	260656043	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	54	cd07227	NULL
10908	260656043	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	44	cd07228	NULL
10908	260656043	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	44	cd07205	NULL
10908	260656043	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	45	cd07210	NULL
10908	260656043	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	87	COG1752	NULL
10908	260656043	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	51	cd07207	NULL
10908	260656043	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	68	cd07199	NULL
10908	260656043	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	55	cd01819	NULL
10908	260656043	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	46	cd07198	NULL
10908	260656043	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	136	pfam01734	NULL
10908	260656043	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	50	cd07209	NULL
10908	260656043	Disease	p.Met1012Val	603197.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	48	cd07208	NULL
10908	116256487	Disease	p.Arg890His	603197.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
10908	260656039	Disease	p.Arg890His	603197.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	21	COG1752	NULL
10908	260656039	Disease	p.Arg890His	603197.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	2	cd07225	NULL
10908	260656041	Disease	p.Arg890His	603197.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
10908	260656037	Disease	p.Arg890His	603197.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
10908	260656043	Disease	p.Arg890His	603197.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603197	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
1690	7387582	Disease	p.Val66Gly	603196.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	110	pfam03815	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Val66Gly	603196.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	48	smart00603	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Val66Gly	603196.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	110	pfam03815	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Val66Gly	603196.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	48	smart00603	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Gly88Glu	603196.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	152	pfam03815	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Gly88Glu	603196.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	71	smart00603	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Gly88Glu	603196.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	152	pfam03815	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Gly88Glu	603196.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	71	smart00603	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Trp117Arg	603196.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	192	pfam03815	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Trp117Arg	603196.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	192	pfam03815	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Pro51Ser	603196.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	43	pfam03815	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Pro51Ser	603196.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	28	smart00603	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Pro51Ser	603196.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	43	pfam03815	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Pro51Ser	603196.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	28	smart00603	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Ile109Asn	603196.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	179	pfam03815	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Ile109Asn	603196.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	92	smart00603	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Ile109Asn	603196.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	179	pfam03815	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Ile109Asn	603196.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	92	smart00603	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Ala119Thr	603196.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	196	pfam03815	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Ala119Thr	603196.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	196	pfam03815	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Cys542Phe	603196.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	195	cd01474	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Cys542Phe	603196.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	184	cd01475	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Cys542Phe	603196.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	195	cd01474	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Cys542Phe	603196.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	184	cd01475	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Cys542Tyr	603196.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	195	cd01474	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Cys542Tyr	603196.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	184	cd01475	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Cys542Tyr	603196.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	195	cd01474	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Cys542Tyr	603196.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	184	cd01475	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	628	smart00327	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	152	cd01481	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	156	cd01482	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	250	pfam00092	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	166	cd01474	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	198	cd01472	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	163	cd01469	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	165	cd01476	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	265	cd01450	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	331	cd00198	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	154	cd01475	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	199	cd01480	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	628	smart00327	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	152	cd01481	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	156	cd01482	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	250	pfam00092	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	166	cd01474	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	198	cd01472	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	163	cd01469	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	165	cd01476	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	265	cd01450	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	331	cd00198	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	154	cd01475	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Met512Thr	603196.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603196	DEAFNESS, AUTOSOMAL DOMINANT 9	OMIM	199	cd01480	4758022,NP_004077|205277471,NP_001128530
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	417	cd07143	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	424	cd07144	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	370	cd07137	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	453	cd07078	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	382_G	cd07133	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	372_G	cd07134	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	421_G	cd07087	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	369_G	cd07136	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	388	cd07105	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	373	cd07104	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	379	cd07095	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	530	pfam00171	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	407	cd07129	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	420	cd07084	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	391	cd07100	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	413	cd07113	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	430	cd07130	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	425	cd07138	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	444	cd07086	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	428	cd07139	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	429	cd07131	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	549	cd07125	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	400	cd07151	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	438	cd07083	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	380	cd07152	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	472	cd07123	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	475	cd06534	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	440	cd07082	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	624	COG4230	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	429	cd07085	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	415	cd07116	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	546	COG1012	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	413	cd07097	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	394	cd07094	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	389	cd07150	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	393	cd07146	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	394	cd07149	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	390	cd07148	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	401	cd07147	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	403	cd07145	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	393	cd07120	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	415	cd07559	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	408	cd07117	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	471	cd07124	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	394	cd07115	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	401	cd07110	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	415	cd07093	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	423	cd07089	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	394	cd07108	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	414	cd07106	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	399	cd07109	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	427	cd07103	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	394	cd07092	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	408	cd07114	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	403	cd07090	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	392	cd07107	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	420	cd07098	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	388	cd07101	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	394	cd07118	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	426	cd07102	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	397	cd07099	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	420	cd07140	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	417	cd07141	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	415	cd07135	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	435	cd07091	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	414	cd07142	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	419	cd07111	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	427	cd07126	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	418	cd07119	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	411	cd07088	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	603178.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603178	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	OMIM	399	cd07112	11095441,NP_005580
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	110	pfam00168	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	127	cd00030	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	209	smart00239	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	68	cd04047	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	61	cd04048	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	36	cd04025	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	37	cd04042	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	44	cd08391	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	39	cd04040	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	110	pfam00168	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	127	cd00030	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	209	smart00239	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	68	cd04047	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	61	cd04048	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	36	cd04025	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	37	cd04042	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	44	cd08391	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	39	cd04040	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	110	pfam00168	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	127	cd00030	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	209	smart00239	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	68	cd04047	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	61	cd04048	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	36	cd04025	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	37	cd04042	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	44	cd08391	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	39	cd04040	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	110	pfam00168	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	127	cd00030	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	209	smart00239	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	68	cd04047	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	61	cd04048	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	36	cd04025	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	37	cd04042	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	44	cd08391	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	39	cd04040	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	110	pfam00168	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	127	cd00030	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	209	smart00239	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	68	cd04047	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	61	cd04048	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	36	cd04025	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	37	cd04042	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	44	cd08391	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	39	cd04040	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	110	pfam00168	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	127	cd00030	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	209	smart00239	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	68	cd04047	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	61	cd04048	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	36	cd04025	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	37	cd04042	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	44	cd08391	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	39	cd04040	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	197333761	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	38	cd08391	NULL
8904	197333761	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	32	cd04042	NULL
8904	197333761	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	31_G	cd04025	NULL
8904	197333761	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	189	smart00239	NULL
8904	197333761	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	63	cd04047	NULL
8904	197333761	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	56	cd04048	NULL
8904	197333761	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	34	cd04040	NULL
8904	197333761	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	105	pfam00168	NULL
8904	197333761	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	122	cd00030	NULL
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	110	pfam00168	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	127	cd00030	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	209	smart00239	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	68	cd04047	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	61	cd04048	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	36	cd04025	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	37	cd04042	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	44	cd08391	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
8904	10719953	Disease	p.Gly178Asp	603103.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603103	CARBOXYPEPTIDASE N DEFICIENCY	OMIM	39	cd04040	23397702,NP_690905|23397698,NP_690903|23397708,NP_690908|23397700,NP_690904|23397696,NP_690902|23397706,NP_690907|23397704,NP_690906
10555	69122971	Disease	p.Leu228Pro	603100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603100	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1	OMIM	388	COG0204	NULL
10555	3914362	Disease	p.Leu228Pro	603100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603100	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1	OMIM	254	cd07991	6041665,NP_006403
10555	3914362	Disease	p.Leu228Pro	603100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603100	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1	OMIM	323	cd07990	6041665,NP_006403
10555	3914362	Disease	p.Leu228Pro	603100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603100	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1	OMIM	327	cd07989	6041665,NP_006403
10555	3914362	Disease	p.Leu228Pro	603100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603100	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1	OMIM	296	cd07992	6041665,NP_006403
10555	3914362	Disease	p.Leu228Pro	603100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603100	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1	OMIM	330	cd06551	6041665,NP_006403
10555	3914362	Disease	p.Leu228Pro	603100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603100	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1	OMIM	154	cd07988	6041665,NP_006403
10555	3914362	Disease	p.Leu228Pro	603100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603100	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1	OMIM	354	COG0204	6041665,NP_006403
8706	51315813	Disease	p.Arg271Gly	603094.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603094	P BLOOD GROUP SYSTEM, P(k) PHENOTYPE	OMIM	221	pfam01762	15451879,NP_149359|84452146,NP_001033717|15451875,NP_149357|4502343,NP_003772|15451877,NP_149358
8706	51315813	Disease	p.Arg271Gly	603094.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603094	P BLOOD GROUP SYSTEM, P(k) PHENOTYPE	OMIM	221	pfam01762	15451879,NP_149359|84452146,NP_001033717|15451875,NP_149357|4502343,NP_003772|15451877,NP_149358
8706	51315813	Disease	p.Arg271Gly	603094.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603094	P BLOOD GROUP SYSTEM, P(k) PHENOTYPE	OMIM	221	pfam01762	15451879,NP_149359|84452146,NP_001033717|15451875,NP_149357|4502343,NP_003772|15451877,NP_149358
8706	51315813	Disease	p.Arg271Gly	603094.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603094	P BLOOD GROUP SYSTEM, P(k) PHENOTYPE	OMIM	221	pfam01762	15451879,NP_149359|84452146,NP_001033717|15451875,NP_149357|4502343,NP_003772|15451877,NP_149358
8706	51315813	Disease	p.Arg271Gly	603094.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603094	P BLOOD GROUP SYSTEM, P(k) PHENOTYPE	OMIM	221	pfam01762	15451879,NP_149359|84452146,NP_001033717|15451875,NP_149357|4502343,NP_003772|15451877,NP_149358
8706	51315813	Disease	p.Glu266Ala	603094.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603094	P BLOOD GROUP SYSTEM, P(k) PHENOTYPE	OMIM	215	pfam01762	15451879,NP_149359|84452146,NP_001033717|15451875,NP_149357|4502343,NP_003772|15451877,NP_149358
8706	51315813	Disease	p.Glu266Ala	603094.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603094	P BLOOD GROUP SYSTEM, P(k) PHENOTYPE	OMIM	215	pfam01762	15451879,NP_149359|84452146,NP_001033717|15451875,NP_149357|4502343,NP_003772|15451877,NP_149358
8706	51315813	Disease	p.Glu266Ala	603094.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603094	P BLOOD GROUP SYSTEM, P(k) PHENOTYPE	OMIM	215	pfam01762	15451879,NP_149359|84452146,NP_001033717|15451875,NP_149357|4502343,NP_003772|15451877,NP_149358
8706	51315813	Disease	p.Glu266Ala	603094.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603094	P BLOOD GROUP SYSTEM, P(k) PHENOTYPE	OMIM	215	pfam01762	15451879,NP_149359|84452146,NP_001033717|15451875,NP_149357|4502343,NP_003772|15451877,NP_149358
8706	51315813	Disease	p.Glu266Ala	603094.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603094	P BLOOD GROUP SYSTEM, P(k) PHENOTYPE	OMIM	215	pfam01762	15451879,NP_149359|84452146,NP_001033717|15451875,NP_149357|4502343,NP_003772|15451877,NP_149358
8985	6093731	Disease	p.Asn223Ser	603066.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603066	LYSYL HYDROXYLASE 3 DEFICIENCY	OMIM	No Domain	N/A	4505891,NP_001075
8540	2498106	Disease	p.Arg419His	603051.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603051	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3	OMIM	39	pfam02913	4501993,NP_003650
8540	2498106	Disease	p.Arg419His	603051.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603051	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3	OMIM	425	COG0277	4501993,NP_003650
8540	2498106	Disease	p.Thr309Ile	603051.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603051	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3	OMIM	231	COG0277	4501993,NP_003650
8540	2498106	Disease	p.Thr309Ile	603051.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603051	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3	OMIM	142	pfam01565	4501993,NP_003650
8540	2498106	Disease	p.Leu469Pro	603051.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603051	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3	OMIM	89	pfam02913	4501993,NP_003650
8540	2498106	Disease	p.Leu469Pro	603051.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603051	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3	OMIM	487	COG0277	4501993,NP_003650
8292	145701009	Disease	p.Tyr431Ser	603033.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603033	ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY	OMIM	No Domain	N/A	NULL
8292	18105018	Disease	p.Tyr431Ser	603033.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603033	ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY	OMIM	No Domain	N/A	NULL
8292	116241309	Disease	p.Tyr431Ser	603033.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603033	ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY	OMIM	No Domain	N/A	18105016,NP_005668
7100	16751843	Disease	p.Asn592Ser	603031.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603031	LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO	OMIM	14	smart00082	NULL
7099	20140413	Disease	p.Thr399Ile	603030.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603030	ENDOTOXIN HYPORESPONSIVENESS	OMIM	No Domain	N/A	19924149,NP_612564
7098	20140422	Disease	p.Pro554Ser	603029.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603029	HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2	OMIM	224	cd00116	4507531,NP_003256
7097	20140434	Disease	p.Arg677Trp	603028.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603028	LEPROSY, SUSCEPTIBILITY TO, 3	OMIM	55	smart00255	19718734,NP_003255
7097	20140434	Disease	p.Arg677Trp	603028.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603028	LEPROSY, SUSCEPTIBILITY TO, 3	OMIM	50	pfam01582	19718734,NP_003255
8291	195976764	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	131	cd04038	NULL
8291	195976764	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	132	cd04046	NULL
8291	195976779	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	130	cd04038	NULL
8291	195976779	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	131	cd04046	NULL
8291	195976760	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	108	cd08377	NULL
8291	195976760	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	203	cd04017	NULL
8291	195976760	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	118	cd04025	NULL
8291	195976760	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	112	cd04042	NULL
8291	195976760	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	142	cd04026	NULL
8291	195976760	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	115	cd04046	NULL
8291	195976760	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	117	cd04038	NULL
8291	195976760	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	177	cd08675	NULL
8291	195976760	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	131	cd08391	NULL
8291	195976760	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	139	cd04024	NULL
8291	195976773	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976754	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976821	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	147	cd04038	NULL
8291	195976756	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976762	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	131	cd04038	NULL
8291	195976762	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	132	cd04046	NULL
8291	195976769	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	147	cd04038	NULL
8291	195976777	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	20137708	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	148	cd04038	4503431,NP_003485
8291	195976758	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	148	cd04038	NULL
8291	195976766	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	141	cd04026	NULL
8291	195976766	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	202	cd04017	NULL
8291	195976766	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	107	cd08377	NULL
8291	195976766	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	130	cd08391	NULL
8291	195976766	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	120	cd04024	NULL
8291	195976766	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	116	cd04038	NULL
8291	195976766	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	176	cd08675	NULL
8291	195976766	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	111	cd04042	NULL
8291	195976766	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	117	cd04025	NULL
8291	195976766	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	114	cd04046	NULL
8291	195976775	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	130	cd04038	NULL
8291	195976775	Disease	p.Ile1298Val	603009.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	131	cd04046	NULL
8291	195976764	Disease	p.Arg2042Cys	603009.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976779	Disease	p.Arg2042Cys	603009.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976760	Disease	p.Arg2042Cys	603009.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976773	Disease	p.Arg2042Cys	603009.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976754	Disease	p.Arg2042Cys	603009.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976821	Disease	p.Arg2042Cys	603009.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976756	Disease	p.Arg2042Cys	603009.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976762	Disease	p.Arg2042Cys	603009.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976769	Disease	p.Arg2042Cys	603009.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976777	Disease	p.Arg2042Cys	603009.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	20137708	Disease	p.Arg2042Cys	603009.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	4503431,NP_003485
8291	195976758	Disease	p.Arg2042Cys	603009.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976766	Disease	p.Arg2042Cys	603009.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976775	Disease	p.Arg2042Cys	603009.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976764	Disease	p.Pro791Arg	603009.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B||MIYOSHI MYOPATHY	OMIM	No Domain	N/A	NULL
8291	195976779	Disease	p.Pro791Arg	603009.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B||MIYOSHI MYOPATHY	OMIM	No Domain	N/A	NULL
8291	195976760	Disease	p.Pro791Arg	603009.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B||MIYOSHI MYOPATHY	OMIM	No Domain	N/A	NULL
8291	195976773	Disease	p.Pro791Arg	603009.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B||MIYOSHI MYOPATHY	OMIM	19	pfam08150	NULL
8291	195976754	Disease	p.Pro791Arg	603009.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B||MIYOSHI MYOPATHY	OMIM	20	pfam08150	NULL
8291	195976821	Disease	p.Pro791Arg	603009.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B||MIYOSHI MYOPATHY	OMIM	5	pfam08150	NULL
8291	195976756	Disease	p.Pro791Arg	603009.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B||MIYOSHI MYOPATHY	OMIM	20	pfam08150	NULL
8291	195976762	Disease	p.Pro791Arg	603009.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B||MIYOSHI MYOPATHY	OMIM	No Domain	N/A	NULL
8291	195976769	Disease	p.Pro791Arg	603009.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B||MIYOSHI MYOPATHY	OMIM	5	pfam08150	NULL
8291	195976777	Disease	p.Pro791Arg	603009.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B||MIYOSHI MYOPATHY	OMIM	19	pfam08150	NULL
8291	20137708	Disease	p.Pro791Arg	603009.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B||MIYOSHI MYOPATHY	OMIM	6	pfam08150	4503431,NP_003485
8291	195976758	Disease	p.Pro791Arg	603009.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B||MIYOSHI MYOPATHY	OMIM	6	pfam08150	NULL
8291	195976766	Disease	p.Pro791Arg	603009.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B||MIYOSHI MYOPATHY	OMIM	No Domain	N/A	NULL
8291	195976775	Disease	p.Pro791Arg	603009.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B||MIYOSHI MYOPATHY	OMIM	No Domain	N/A	NULL
8291	195976764	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	92	cd04030	NULL
8291	195976764	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	122	cd04015	NULL
8291	195976764	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	154	pfam00168	NULL
8291	195976764	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	114	cd00276	NULL
8291	195976764	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	287	cd00030	NULL
8291	195976764	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	96	cd04035	NULL
8291	195976764	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	96	cd04009	NULL
8291	195976764	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	170	cd08521	NULL
8291	195976764	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	87	cd08405	NULL
8291	195976764	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd04022	NULL
8291	195976764	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	71	cd08382	NULL
8291	195976764	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04045	NULL
8291	195976764	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	288	smart00239	NULL
8291	195976764	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	67	cd08373	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04022	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	169	cd08521	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd04024	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	113	cd00276	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	68	cd04040	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	102	cd08675	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	95	cd04035	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	286	cd00030	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	210	cd00275	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	153	pfam00168	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd08382	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04025	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	287	smart00239	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	88	cd04050	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	86	cd08405	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	72	cd04049	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	101	cd04010	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	91	cd04030	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	73	cd04021	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	65	cd08678	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	66	cd08373	NULL
8291	195976779	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	68	cd04045	NULL
8291	195976760	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	92	cd04030	NULL
8291	195976760	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	122	cd04015	NULL
8291	195976760	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	154	pfam00168	NULL
8291	195976760	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	114	cd00276	NULL
8291	195976760	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	287	cd00030	NULL
8291	195976760	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	96	cd04035	NULL
8291	195976760	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	96	cd04009	NULL
8291	195976760	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	170	cd08521	NULL
8291	195976760	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	87	cd08405	NULL
8291	195976760	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd04022	NULL
8291	195976760	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	71	cd08382	NULL
8291	195976760	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04045	NULL
8291	195976760	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	288	smart00239	NULL
8291	195976760	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	67	cd08373	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04022	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	169	cd08521	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd04024	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	113	cd00276	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	68	cd04040	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	102	cd08675	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	95	cd04035	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	286	cd00030	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	210	cd00275	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	153	pfam00168	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd08382	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04025	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	287	smart00239	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	88	cd04050	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	86	cd08405	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	72	cd04049	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	101	cd04010	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	91	cd04030	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	73	cd04021	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	65	cd08678	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	66	cd08373	NULL
8291	195976773	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	68	cd04045	NULL
8291	195976754	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	92	cd04030	NULL
8291	195976754	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	122	cd04015	NULL
8291	195976754	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	154	pfam00168	NULL
8291	195976754	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	114	cd00276	NULL
8291	195976754	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	287	cd00030	NULL
8291	195976754	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	96	cd04035	NULL
8291	195976754	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	96	cd04009	NULL
8291	195976754	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	170	cd08521	NULL
8291	195976754	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	87	cd08405	NULL
8291	195976754	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd04022	NULL
8291	195976754	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	71	cd08382	NULL
8291	195976754	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04045	NULL
8291	195976754	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	288	smart00239	NULL
8291	195976754	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	67	cd08373	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04022	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	169	cd08521	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd04024	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	113	cd00276	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	68	cd04040	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	102	cd08675	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	95	cd04035	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	286	cd00030	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	210	cd00275	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	153	pfam00168	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd08382	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04025	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	287	smart00239	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	88	cd04050	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	86	cd08405	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	72	cd04049	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	101	cd04010	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	91	cd04030	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	73	cd04021	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	65	cd08678	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	66	cd08373	NULL
8291	195976821	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	68	cd04045	NULL
8291	195976756	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	92	cd04030	NULL
8291	195976756	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	122	cd04015	NULL
8291	195976756	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	154	pfam00168	NULL
8291	195976756	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	114	cd00276	NULL
8291	195976756	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	287	cd00030	NULL
8291	195976756	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	96	cd04035	NULL
8291	195976756	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	96	cd04009	NULL
8291	195976756	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	170	cd08521	NULL
8291	195976756	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	87	cd08405	NULL
8291	195976756	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd04022	NULL
8291	195976756	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	71	cd08382	NULL
8291	195976756	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04045	NULL
8291	195976756	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	288	smart00239	NULL
8291	195976756	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	67	cd08373	NULL
8291	195976762	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	92	cd04030	NULL
8291	195976762	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	122	cd04015	NULL
8291	195976762	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	154	pfam00168	NULL
8291	195976762	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	114	cd00276	NULL
8291	195976762	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	287	cd00030	NULL
8291	195976762	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	96	cd04035	NULL
8291	195976762	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	96	cd04009	NULL
8291	195976762	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	170	cd08521	NULL
8291	195976762	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	87	cd08405	NULL
8291	195976762	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd04022	NULL
8291	195976762	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	71	cd08382	NULL
8291	195976762	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04045	NULL
8291	195976762	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	288	smart00239	NULL
8291	195976762	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	67	cd08373	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04022	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	169	cd08521	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd04024	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	113	cd00276	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	68	cd04040	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	102	cd08675	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	95	cd04035	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	286	cd00030	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	210	cd00275	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	153	pfam00168	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd08382	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04025	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	287	smart00239	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	88	cd04050	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	86	cd08405	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	72	cd04049	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	101	cd04010	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	91	cd04030	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	73	cd04021	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	65	cd08678	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	66	cd08373	NULL
8291	195976769	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	68	cd04045	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04022	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	169	cd08521	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd04024	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	113	cd00276	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	68	cd04040	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	102	cd08675	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	95	cd04035	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	286	cd00030	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	210	cd00275	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	153	pfam00168	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd08382	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04025	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	287	smart00239	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	88	cd04050	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	86	cd08405	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	72	cd04049	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	101	cd04010	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	91	cd04030	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	73	cd04021	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	65	cd08678	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	66	cd08373	NULL
8291	195976777	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	68	cd04045	NULL
8291	20137708	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	92	cd04030	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	122	cd04015	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	154	pfam00168	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	114	cd00276	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	287	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	96	cd04035	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	96	cd04009	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	170	cd08521	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	87	cd08405	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd04022	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	71	cd08382	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04045	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	288	smart00239	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	67	cd08373	4503431,NP_003485
8291	195976758	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	92	cd04030	NULL
8291	195976758	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	122	cd04015	NULL
8291	195976758	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	154	pfam00168	NULL
8291	195976758	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	114	cd00276	NULL
8291	195976758	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	287	cd00030	NULL
8291	195976758	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	96	cd04035	NULL
8291	195976758	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	96	cd04009	NULL
8291	195976758	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	170	cd08521	NULL
8291	195976758	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	87	cd08405	NULL
8291	195976758	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd04022	NULL
8291	195976758	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	71	cd08382	NULL
8291	195976758	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04045	NULL
8291	195976758	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	288	smart00239	NULL
8291	195976758	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	67	cd08373	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04022	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	169	cd08521	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd04024	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	113	cd00276	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	68	cd04040	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	102	cd08675	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	95	cd04035	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	286	cd00030	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	210	cd00275	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	153	pfam00168	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd08382	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04025	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	287	smart00239	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	88	cd04050	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	86	cd08405	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	72	cd04049	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	101	cd04010	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	91	cd04030	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	73	cd04021	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	65	cd08678	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	66	cd08373	NULL
8291	195976766	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	68	cd04045	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04022	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	169	cd08521	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd04024	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	113	cd00276	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	68	cd04040	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	102	cd08675	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	95	cd04035	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	286	cd00030	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	210	cd00275	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	153	pfam00168	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	70	cd08382	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	69	cd04025	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	287	smart00239	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	88	cd04050	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	86	cd08405	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	72	cd04049	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	101	cd04010	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	91	cd04030	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	73	cd04021	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	65	cd08678	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	66	cd08373	NULL
8291	195976775	Disease	p.Val67Asp	603009.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	68	cd04045	NULL
8291	195976764	Disease	p.Trp999Cys	603009.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	63	smart00693	NULL
8291	195976779	Disease	p.Trp999Cys	603009.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	62	smart00693	NULL
8291	195976760	Disease	p.Trp999Cys	603009.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	39	smart00693	NULL
8291	195976773	Disease	p.Trp999Cys	603009.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	2	smart00694	NULL
8291	195976754	Disease	p.Trp999Cys	603009.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	3	smart00694	NULL
8291	195976821	Disease	p.Trp999Cys	603009.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	82	smart00693	NULL
8291	195976756	Disease	p.Trp999Cys	603009.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	3	smart00694	NULL
8291	195976762	Disease	p.Trp999Cys	603009.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	63	smart00693	NULL
8291	195976769	Disease	p.Trp999Cys	603009.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	82	smart00693	NULL
8291	195976777	Disease	p.Trp999Cys	603009.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	2	smart00694	NULL
8291	20137708	Disease	p.Trp999Cys	603009.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	83	smart00693	4503431,NP_003485
8291	195976758	Disease	p.Trp999Cys	603009.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	83	smart00693	NULL
8291	195976766	Disease	p.Trp999Cys	603009.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	24	smart00693	NULL
8291	195976775	Disease	p.Trp999Cys	603009.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	62	smart00693	NULL
8291	195976764	Disease	p.Arg1046His	603009.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	19	smart00694	NULL
8291	195976779	Disease	p.Arg1046His	603009.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	18	smart00694	NULL
8291	195976760	Disease	p.Arg1046His	603009.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	5	smart00694	NULL
8291	195976773	Disease	p.Arg1046His	603009.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	No Domain	N/A	NULL
8291	195976754	Disease	p.Arg1046His	603009.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	No Domain	N/A	NULL
8291	195976821	Disease	p.Arg1046His	603009.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	38	smart00694	NULL
8291	195976756	Disease	p.Arg1046His	603009.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	No Domain	N/A	NULL
8291	195976762	Disease	p.Arg1046His	603009.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	19	smart00694	NULL
8291	195976769	Disease	p.Arg1046His	603009.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	38	smart00694	NULL
8291	195976777	Disease	p.Arg1046His	603009.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	No Domain	N/A	NULL
8291	20137708	Disease	p.Arg1046His	603009.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	39	smart00694	4503431,NP_003485
8291	195976758	Disease	p.Arg1046His	603009.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	39	smart00694	NULL
8291	195976766	Disease	p.Arg1046His	603009.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	4	smart00694	NULL
8291	195976775	Disease	p.Arg1046His	603009.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	18	smart00694	NULL
8291	195976764	Disease	p.Asp625Tyr	603009.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976779	Disease	p.Asp625Tyr	603009.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976760	Disease	p.Asp625Tyr	603009.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976773	Disease	p.Asp625Tyr	603009.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976754	Disease	p.Asp625Tyr	603009.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976821	Disease	p.Asp625Tyr	603009.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976756	Disease	p.Asp625Tyr	603009.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976762	Disease	p.Asp625Tyr	603009.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976769	Disease	p.Asp625Tyr	603009.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976777	Disease	p.Asp625Tyr	603009.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	20137708	Disease	p.Asp625Tyr	603009.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	4503431,NP_003485
8291	195976758	Disease	p.Asp625Tyr	603009.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976766	Disease	p.Asp625Tyr	603009.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976775	Disease	p.Asp625Tyr	603009.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976764	Disease	p.Glu1734Gly	603009.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	141	cd08402	NULL
8291	195976764	Disease	p.Glu1734Gly	603009.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	188	cd04037	NULL
8291	195976779	Disease	p.Glu1734Gly	603009.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	187	cd04037	NULL
8291	195976779	Disease	p.Glu1734Gly	603009.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	140	cd08402	NULL
8291	195976760	Disease	p.Glu1734Gly	603009.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976773	Disease	p.Glu1734Gly	603009.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976754	Disease	p.Glu1734Gly	603009.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976821	Disease	p.Glu1734Gly	603009.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976756	Disease	p.Glu1734Gly	603009.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976762	Disease	p.Glu1734Gly	603009.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976769	Disease	p.Glu1734Gly	603009.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976777	Disease	p.Glu1734Gly	603009.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	20137708	Disease	p.Glu1734Gly	603009.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	4503431,NP_003485
8291	195976758	Disease	p.Glu1734Gly	603009.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976766	Disease	p.Glu1734Gly	603009.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976775	Disease	p.Glu1734Gly	603009.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	No Domain	N/A	NULL
8291	195976764	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	99	cd04040	NULL
8291	195976764	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	129	cd04041	NULL
8291	195976764	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	448	cd00030	NULL
8291	195976764	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	112	cd04018	NULL
8291	195976764	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	363	smart00239	NULL
8291	195976779	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	111	cd04018	NULL
8291	195976779	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	362	smart00239	NULL
8291	195976779	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	447	cd00030	NULL
8291	195976779	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	128	cd04041	NULL
8291	195976760	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	129	cd04041	NULL
8291	195976760	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	94_G	cd04040	NULL
8291	195976760	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	448	cd00030	NULL
8291	195976760	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	363	smart00239	NULL
8291	195976760	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	112	cd04018	NULL
8291	195976773	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	156	cd04018	NULL
8291	195976754	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	157	cd04018	NULL
8291	195976821	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	142	cd04018	NULL
8291	195976756	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	157	cd04018	NULL
8291	195976762	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	99	cd04040	NULL
8291	195976762	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	129	cd04041	NULL
8291	195976762	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	448	cd00030	NULL
8291	195976762	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	112	cd04018	NULL
8291	195976762	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	363	smart00239	NULL
8291	195976769	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	142	cd04018	NULL
8291	195976777	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	156	cd04018	NULL
8291	20137708	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	143	cd04018	4503431,NP_003485
8291	195976758	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	143	cd04018	NULL
8291	195976766	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	111	cd04018	NULL
8291	195976766	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	362	smart00239	NULL
8291	195976766	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	447	cd00030	NULL
8291	195976766	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	128	cd04041	NULL
8291	195976775	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	111	cd04018	NULL
8291	195976775	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	362	smart00239	NULL
8291	195976775	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	447	cd00030	NULL
8291	195976775	Disease	p.Gly519Arg	603009.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	128	cd04041	NULL
8291	195976764	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	241	smart00239	NULL
8291	195976764	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	62	cd04011	NULL
8291	195976764	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	134	pfam00168	NULL
8291	195976764	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	208	cd00030	NULL
8291	195976779	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	240	smart00239	NULL
8291	195976779	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	61	cd04011	NULL
8291	195976779	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	133	pfam00168	NULL
8291	195976779	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	207	cd00030	NULL
8291	195976760	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	241	smart00239	NULL
8291	195976760	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	62	cd04011	NULL
8291	195976760	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	134	pfam00168	NULL
8291	195976760	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	208	cd00030	NULL
8291	195976773	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	329	smart00239	NULL
8291	195976773	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	104	cd04011	NULL
8291	195976773	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	387	cd00030	NULL
8291	195976773	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	184	pfam00168	NULL
8291	195976754	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	105	cd04011	NULL
8291	195976754	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	185	pfam00168	NULL
8291	195976754	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	388	cd00030	NULL
8291	195976754	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	330	smart00239	NULL
8291	195976821	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	329	smart00239	NULL
8291	195976821	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	104	cd04011	NULL
8291	195976821	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	387	cd00030	NULL
8291	195976821	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	184	pfam00168	NULL
8291	195976756	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	105	cd04011	NULL
8291	195976756	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	185	pfam00168	NULL
8291	195976756	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	388	cd00030	NULL
8291	195976756	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	330	smart00239	NULL
8291	195976762	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	241	smart00239	NULL
8291	195976762	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	62	cd04011	NULL
8291	195976762	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	134	pfam00168	NULL
8291	195976762	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	208	cd00030	NULL
8291	195976769	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	329	smart00239	NULL
8291	195976769	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	104	cd04011	NULL
8291	195976769	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	387	cd00030	NULL
8291	195976769	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	184	pfam00168	NULL
8291	195976777	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	329	smart00239	NULL
8291	195976777	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	104	cd04011	NULL
8291	195976777	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	387	cd00030	NULL
8291	195976777	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	184	pfam00168	NULL
8291	20137708	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	105	cd04011	4503431,NP_003485
8291	20137708	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	185	pfam00168	4503431,NP_003485
8291	20137708	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	388	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	330	smart00239	4503431,NP_003485
8291	195976758	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	105	cd04011	NULL
8291	195976758	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	185	pfam00168	NULL
8291	195976758	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	388	cd00030	NULL
8291	195976758	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	330	smart00239	NULL
8291	195976766	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	240	smart00239	NULL
8291	195976766	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	61	cd04011	NULL
8291	195976766	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	133	pfam00168	NULL
8291	195976766	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	207	cd00030	NULL
8291	195976775	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	240	smart00239	NULL
8291	195976775	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	61	cd04011	NULL
8291	195976775	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	133	pfam00168	NULL
8291	195976775	Disease	p.Gly299Arg	603009.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	OMIM	207	cd00030	NULL
8291	195976764	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	241	smart00239	NULL
8291	195976764	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	62	cd04011	NULL
8291	195976764	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	134	pfam00168	NULL
8291	195976764	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	208	cd00030	NULL
8291	195976779	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	240	smart00239	NULL
8291	195976779	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	61	cd04011	NULL
8291	195976779	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	133	pfam00168	NULL
8291	195976779	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	207	cd00030	NULL
8291	195976760	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	241	smart00239	NULL
8291	195976760	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	62	cd04011	NULL
8291	195976760	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	134	pfam00168	NULL
8291	195976760	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	208	cd00030	NULL
8291	195976773	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	329	smart00239	NULL
8291	195976773	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	104	cd04011	NULL
8291	195976773	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	387	cd00030	NULL
8291	195976773	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	184	pfam00168	NULL
8291	195976754	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	105	cd04011	NULL
8291	195976754	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	185	pfam00168	NULL
8291	195976754	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	388	cd00030	NULL
8291	195976754	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	330	smart00239	NULL
8291	195976821	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	329	smart00239	NULL
8291	195976821	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	104	cd04011	NULL
8291	195976821	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	387	cd00030	NULL
8291	195976821	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	184	pfam00168	NULL
8291	195976756	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	105	cd04011	NULL
8291	195976756	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	185	pfam00168	NULL
8291	195976756	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	388	cd00030	NULL
8291	195976756	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	330	smart00239	NULL
8291	195976762	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	241	smart00239	NULL
8291	195976762	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	62	cd04011	NULL
8291	195976762	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	134	pfam00168	NULL
8291	195976762	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	208	cd00030	NULL
8291	195976769	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	329	smart00239	NULL
8291	195976769	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	104	cd04011	NULL
8291	195976769	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	387	cd00030	NULL
8291	195976769	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	184	pfam00168	NULL
8291	195976777	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	329	smart00239	NULL
8291	195976777	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	104	cd04011	NULL
8291	195976777	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	387	cd00030	NULL
8291	195976777	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	184	pfam00168	NULL
8291	20137708	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	105	cd04011	4503431,NP_003485
8291	20137708	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	185	pfam00168	4503431,NP_003485
8291	20137708	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	388	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	330	smart00239	4503431,NP_003485
8291	195976758	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	105	cd04011	NULL
8291	195976758	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	185	pfam00168	NULL
8291	195976758	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	388	cd00030	NULL
8291	195976758	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	330	smart00239	NULL
8291	195976766	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	240	smart00239	NULL
8291	195976766	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	61	cd04011	NULL
8291	195976766	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	133	pfam00168	NULL
8291	195976766	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	207	cd00030	NULL
8291	195976775	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	240	smart00239	NULL
8291	195976775	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	61	cd04011	NULL
8291	195976775	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	133	pfam00168	NULL
8291	195976775	Disease	p.Gly299Trp	603009.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603009	MIYOSHI MYOPATHY	OMIM	207	cd00030	NULL
9060	62912492	Disease	p.Thr48Arg	603005.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603005	SPONDYLODYSPLASIA AND PREMATURE PUBARCHE	OMIM	30	COG0529	NULL
9060	62912492	Disease	p.Thr48Arg	603005.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603005	SPONDYLODYSPLASIA AND PREMATURE PUBARCHE	OMIM	8	pfam01583	NULL
9060	62912492	Disease	p.Thr48Arg	603005.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603005	SPONDYLODYSPLASIA AND PREMATURE PUBARCHE	OMIM	5	cd02027	NULL
9060	62912492	Disease	p.Thr48Arg	603005.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603005	SPONDYLODYSPLASIA AND PREMATURE PUBARCHE	OMIM	5	cd02019	NULL
9060	20178315	Disease	p.Thr48Arg	603005.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603005	SPONDYLODYSPLASIA AND PREMATURE PUBARCHE	OMIM	30	COG0529	34447231,NP_004661
9060	20178315	Disease	p.Thr48Arg	603005.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603005	SPONDYLODYSPLASIA AND PREMATURE PUBARCHE	OMIM	8	pfam01583	34447231,NP_004661
9060	20178315	Disease	p.Thr48Arg	603005.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603005	SPONDYLODYSPLASIA AND PREMATURE PUBARCHE	OMIM	5	cd02027	34447231,NP_004661
9060	20178315	Disease	p.Thr48Arg	603005.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603005	SPONDYLODYSPLASIA AND PREMATURE PUBARCHE	OMIM	5	cd02019	34447231,NP_004661
8029	311033498	Disease	p.Pro1297Leu	602997.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602997	MEGALOBLASTIC ANEMIA 1, FINNISH TYPE	OMIM	9	smart00042	126091152,NP_001072
8029	311033498	Disease	p.Pro1297Leu	602997.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602997	MEGALOBLASTIC ANEMIA 1, FINNISH TYPE	OMIM	28	cd00041	126091152,NP_001072
8029	311033498	Disease	p.Pro1297Leu	602997.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602997	MEGALOBLASTIC ANEMIA 1, FINNISH TYPE	OMIM	23	pfam00431	126091152,NP_001072
9241	15214099	Disease	p.Tyr222Cys	602991.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602991	SYMPHALANGISM, PROXIMAL	OMIM	272	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Tyr222Asp	602991.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602991	SYMPHALANGISM, PROXIMAL	OMIM	272	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Trp217Gly	602991.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602991	MULTIPLE SYNOSTOSES SYNDROME 1	OMIM	267	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Pro223Leu	602991.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602991	SYMPHALANGISM, PROXIMAL	OMIM	273	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Gly189Cys	602991.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602991	SYMPHALANGISM, PROXIMAL	OMIM	178	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Arg204Leu	602991.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602991	TARSAL-CARPAL COALITION SYNDROME	OMIM	193	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Pro35Arg	602991.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602991	TARSAL-CARPAL COALITION SYNDROME||SYMPHALANGISM, PROXIMAL	OMIM	29	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Tyr222Cys	602991.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602991	TARSAL-CARPAL COALITION SYNDROME||SYMPHALANGISM, PROXIMAL	OMIM	272	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Cys184Tyr	602991.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602991	SYMPHALANGISM, PROXIMAL	OMIM	173	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Pro35Ser	602991.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602991	SYMPHALANGISM, PROXIMAL||BRACHYDACTYLY, TYPE B2||STAPES ANKYLOSIS WITH BROAD THUMB AND TOES	OMIM	29	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Trp205Cys	602991.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602991	MULTIPLE SYNOSTOSES SYNDROME 1	OMIM	194	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Pro35Ala	602991.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602991	BRACHYDACTYLY, TYPE B2	OMIM	29	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Arg167Gly	602991.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602991	BRACHYDACTYLY, TYPE B2	OMIM	156	pfam05806	4885523,NP_005441
4720	260898743	Disease	p.Arg228Gln	602985.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602985	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	176	COG0649	NULL
4720	260898743	Disease	p.Arg228Gln	602985.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602985	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	37	pfam00346	NULL
4720	260898743	Disease	p.Arg228Gln	602985.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602985	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	158	COG3261	NULL
4720	20178314	Disease	p.Arg228Gln	602985.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602985	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	176	COG0649	4758786,NP_004541
4720	20178314	Disease	p.Arg228Gln	602985.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602985	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	37	pfam00346	4758786,NP_004541
4720	20178314	Disease	p.Arg228Gln	602985.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602985	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	158	COG3261	4758786,NP_004541
4720	260898743	Disease	p.Pro229Gln	602985.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602985	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	177	COG0649	NULL
4720	260898743	Disease	p.Pro229Gln	602985.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602985	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	38	pfam00346	NULL
4720	260898743	Disease	p.Pro229Gln	602985.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602985	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	159	COG3261	NULL
4720	20178314	Disease	p.Pro229Gln	602985.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602985	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	177	COG0649	4758786,NP_004541
4720	20178314	Disease	p.Pro229Gln	602985.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602985	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	38	pfam00346	4758786,NP_004541
4720	20178314	Disease	p.Pro229Gln	602985.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602985	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	159	COG3261	4758786,NP_004541
4720	260898743	Disease	p.Ser413Pro	602985.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602985	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	409	COG0649	NULL
4720	260898743	Disease	p.Ser413Pro	602985.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602985	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	225	pfam00346	NULL
4720	260898743	Disease	p.Ser413Pro	602985.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602985	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	344	COG3261	NULL
4720	20178314	Disease	p.Ser413Pro	602985.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602985	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	409	COG0649	4758786,NP_004541
4720	20178314	Disease	p.Ser413Pro	602985.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602985	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	225	pfam00346	4758786,NP_004541
4720	20178314	Disease	p.Ser413Pro	602985.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602985	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	344	COG3261	4758786,NP_004541
570	74739811	Disease	p.Met76Val	602938.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602938	HYPERCHOLANEMIA, FAMILIAL	OMIM	81	pfam04775	189083866,NP_001121082|4502351,NP_001692
570	74739811	Disease	p.Met76Val	602938.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602938	HYPERCHOLANEMIA, FAMILIAL	OMIM	81	pfam04775	189083866,NP_001121082|4502351,NP_001692
79152	74749893	Disease	p.Pro129Thr	602935.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602935	DRUG ADDICTION, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	205360949,NP_077282
6812	4507297	Disease	p.Gly544Asp	602926.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602926	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	OMIM	1882	pfam00995	NULL
6812	4507297	Disease	p.Gly544Asp	602926.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602926	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	OMIM	660	COG5158	NULL
6812	50403646	Disease	p.Gly544Asp	602926.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602926	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	OMIM	1882	pfam00995	73760415,NP_001027392
6812	50403646	Disease	p.Gly544Asp	602926.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602926	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	OMIM	660	COG5158	73760415,NP_001027392
6812	4507297	Disease	p.Cys180Tyr	602926.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602926	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	OMIM	507	pfam00995	NULL
6812	4507297	Disease	p.Cys180Tyr	602926.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602926	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	OMIM	210	COG5158	NULL
6812	50403646	Disease	p.Cys180Tyr	602926.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602926	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	OMIM	507	pfam00995	73760415,NP_001027392
6812	50403646	Disease	p.Cys180Tyr	602926.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602926	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	OMIM	210	COG5158	73760415,NP_001027392
6812	4507297	Disease	p.Met443Arg	602926.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602926	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	OMIM	1194	pfam00995	NULL
6812	4507297	Disease	p.Met443Arg	602926.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602926	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	OMIM	522	COG5158	NULL
6812	50403646	Disease	p.Met443Arg	602926.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602926	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	OMIM	1194	pfam00995	73760415,NP_001027392
6812	50403646	Disease	p.Met443Arg	602926.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602926	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	OMIM	522	COG5158	73760415,NP_001027392
6812	4507297	Disease	p.Val84Asp	602926.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602926	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	OMIM	136	pfam00995	NULL
6812	4507297	Disease	p.Val84Asp	602926.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602926	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	OMIM	109	COG5158	NULL
6812	50403646	Disease	p.Val84Asp	602926.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602926	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	OMIM	136	pfam00995	73760415,NP_001027392
6812	50403646	Disease	p.Val84Asp	602926.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602926	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	OMIM	109	COG5158	73760415,NP_001027392
364	3121761	Disease	p.Gly264Val	602914.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602914	GLYCEROL RELEASE DURING EXERCISE, DEFECTIVE	OMIM	287	pfam00230	4502187,NP_001161
364	3121761	Disease	p.Gly264Val	602914.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602914	GLYCEROL RELEASE DURING EXERCISE, DEFECTIVE	OMIM	336	cd00333	4502187,NP_001161
364	3121761	Disease	p.Gly264Val	602914.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602914	GLYCEROL RELEASE DURING EXERCISE, DEFECTIVE	OMIM	362	COG0580	4502187,NP_001161
1789	28559065	Disease	p.Asp809Gly	602900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	641	COG0270	NULL
1789	28559065	Disease	p.Asp809Gly	602900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	584	cd00315	NULL
1789	28559065	Disease	p.Asp809Gly	602900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	509	pfam00145	NULL
1789	17375667	Disease	p.Asp809Gly	602900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	624	COG0270	5901940,NP_008823
1789	17375667	Disease	p.Asp809Gly	602900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	575	cd00315	5901940,NP_008823
1789	17375667	Disease	p.Asp809Gly	602900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	496	pfam00145	5901940,NP_008823
1789	28559061	Disease	p.Asp809Gly	602900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	670	COG0270	NULL
1789	28559061	Disease	p.Asp809Gly	602900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	611	cd00315	NULL
1789	28559061	Disease	p.Asp809Gly	602900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	527	pfam00145	NULL
1789	28559063	Disease	p.Asp809Gly	602900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	No Domain	N/A	NULL
1789	28559065	Disease	p.Val810Met	602900.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	642	COG0270	NULL
1789	28559065	Disease	p.Val810Met	602900.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	585	cd00315	NULL
1789	28559065	Disease	p.Val810Met	602900.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	510	pfam00145	NULL
1789	17375667	Disease	p.Val810Met	602900.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	625	COG0270	5901940,NP_008823
1789	17375667	Disease	p.Val810Met	602900.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	576	cd00315	5901940,NP_008823
1789	17375667	Disease	p.Val810Met	602900.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	497	pfam00145	5901940,NP_008823
1789	28559061	Disease	p.Val810Met	602900.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	671	COG0270	NULL
1789	28559061	Disease	p.Val810Met	602900.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	612	cd00315	NULL
1789	28559061	Disease	p.Val810Met	602900.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	528	pfam00145	NULL
1789	28559063	Disease	p.Val810Met	602900.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	No Domain	N/A	NULL
1789	28559065	Disease	p.Val718Gly	602900.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	310	COG0270	NULL
1789	28559065	Disease	p.Val718Gly	602900.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	241	cd00315	NULL
1789	28559065	Disease	p.Val718Gly	602900.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	198	pfam00145	NULL
1789	17375667	Disease	p.Val718Gly	602900.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	290	COG0270	5901940,NP_008823
1789	17375667	Disease	p.Val718Gly	602900.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	233	cd00315	5901940,NP_008823
1789	17375667	Disease	p.Val718Gly	602900.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	190	pfam00145	5901940,NP_008823
1789	28559061	Disease	p.Val718Gly	602900.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	362	COG0270	NULL
1789	28559061	Disease	p.Val718Gly	602900.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	261	cd00315	NULL
1789	28559061	Disease	p.Val718Gly	602900.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	213	pfam00145	NULL
1789	28559063	Disease	p.Val718Gly	602900.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	No Domain	N/A	NULL
1789	28559065	Disease	p.Gly655Ser	602900.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	189	COG0270	NULL
1789	28559065	Disease	p.Gly655Ser	602900.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	166	cd00315	NULL
1789	28559065	Disease	p.Gly655Ser	602900.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	114	pfam00145	NULL
1789	17375667	Disease	p.Gly655Ser	602900.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	149	COG0270	5901940,NP_008823
1789	17375667	Disease	p.Gly655Ser	602900.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	155	cd00315	5901940,NP_008823
1789	17375667	Disease	p.Gly655Ser	602900.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	103	pfam00145	5901940,NP_008823
1789	28559061	Disease	p.Gly655Ser	602900.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	203	COG0270	NULL
1789	28559061	Disease	p.Gly655Ser	602900.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	179	cd00315	NULL
1789	28559061	Disease	p.Gly655Ser	602900.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	129	pfam00145	NULL
1789	28559063	Disease	p.Gly655Ser	602900.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	No Domain	N/A	NULL
1789	28559065	Disease	p.Leu656Thr	602900.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	190	COG0270	NULL
1789	28559065	Disease	p.Leu656Thr	602900.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	167	cd00315	NULL
1789	28559065	Disease	p.Leu656Thr	602900.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	115	pfam00145	NULL
1789	17375667	Disease	p.Leu656Thr	602900.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	150	COG0270	5901940,NP_008823
1789	17375667	Disease	p.Leu656Thr	602900.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	156	cd00315	5901940,NP_008823
1789	17375667	Disease	p.Leu656Thr	602900.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	104	pfam00145	5901940,NP_008823
1789	28559061	Disease	p.Leu656Thr	602900.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	204	COG0270	NULL
1789	28559061	Disease	p.Leu656Thr	602900.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	180	cd00315	NULL
1789	28559061	Disease	p.Leu656Thr	602900.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	130	pfam00145	NULL
1789	28559063	Disease	p.Leu656Thr	602900.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	No Domain	N/A	NULL
1789	28559065	Disease	p.Ala603Thr	602900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	45	COG0270	NULL
1789	28559065	Disease	p.Ala603Thr	602900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	51	cd00315	NULL
1789	28559065	Disease	p.Ala603Thr	602900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	51	pfam00145	NULL
1789	17375667	Disease	p.Ala603Thr	602900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	37	COG0270	5901940,NP_008823
1789	17375667	Disease	p.Ala603Thr	602900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	38	cd00315	5901940,NP_008823
1789	17375667	Disease	p.Ala603Thr	602900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	38	pfam00145	5901940,NP_008823
1789	28559061	Disease	p.Ala603Thr	602900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	53	COG0270	NULL
1789	28559061	Disease	p.Ala603Thr	602900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	119	cd00315	NULL
1789	28559061	Disease	p.Ala603Thr	602900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	66	pfam00145	NULL
1789	28559063	Disease	p.Ala603Thr	602900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	No Domain	N/A	NULL
1789	28559065	Disease	p.Val726Gly	602900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	324	COG0270	NULL
1789	28559065	Disease	p.Val726Gly	602900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	256	cd00315	NULL
1789	28559065	Disease	p.Val726Gly	602900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	209	pfam00145	NULL
1789	17375667	Disease	p.Val726Gly	602900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	310	COG0270	5901940,NP_008823
1789	17375667	Disease	p.Val726Gly	602900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	241	cd00315	5901940,NP_008823
1789	17375667	Disease	p.Val726Gly	602900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	198	pfam00145	5901940,NP_008823
1789	28559061	Disease	p.Val726Gly	602900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	390	COG0270	NULL
1789	28559061	Disease	p.Val726Gly	602900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	269	cd00315	NULL
1789	28559061	Disease	p.Val726Gly	602900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	246	pfam00145	NULL
1789	28559063	Disease	p.Val726Gly	602900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	No Domain	N/A	NULL
1789	28559065	Disease	p.Arg832Gln	602900.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	689	COG0270	NULL
1789	28559065	Disease	p.Arg832Gln	602900.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	622	cd00315	NULL
1789	28559065	Disease	p.Arg832Gln	602900.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	538	pfam00145	NULL
1789	17375667	Disease	p.Arg832Gln	602900.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	673	COG0270	5901940,NP_008823
1789	17375667	Disease	p.Arg832Gln	602900.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	614	cd00315	5901940,NP_008823
1789	17375667	Disease	p.Arg832Gln	602900.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	530	pfam00145	5901940,NP_008823
1789	28559061	Disease	p.Arg832Gln	602900.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	701	COG0270	NULL
1789	28559063	Disease	p.Arg832Gln	602900.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	No Domain	N/A	NULL
1789	28559065	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	58	pfam00855	NULL
1789	28559065	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	117	cd05840	NULL
1789	28559065	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	72	cd05162	NULL
1789	28559065	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	55	cd05835	NULL
1789	28559065	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	123	smart00293	NULL
1789	28559065	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	51	cd05836	NULL
1789	17375667	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	70	pfam00855	5901940,NP_008823
1789	17375667	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	84	cd05162	5901940,NP_008823
1789	17375667	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	129	cd05840	5901940,NP_008823
1789	17375667	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	63	cd05836	5901940,NP_008823
1789	17375667	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	67	cd05835	5901940,NP_008823
1789	28559061	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	70	pfam00855	NULL
1789	28559061	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	84	cd05162	NULL
1789	28559061	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	129	cd05840	NULL
1789	28559061	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	63	cd05836	NULL
1789	28559061	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	67	cd05835	NULL
1789	28559063	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	70	pfam00855	NULL
1789	28559063	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	84	cd05162	NULL
1789	28559063	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	129	cd05840	NULL
1789	28559063	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	63	cd05836	NULL
1789	28559063	Disease	p.Ser282Pro	602900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602900	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	OMIM	67	cd05835	NULL
2657	116242492	Disease	p.Cys267Tyr	602880.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602880	DOUBLE-OUTLET RIGHT VENTRICLE	OMIM	4	pfam00019	110349792,NP_001483
2657	116242492	Disease	p.Gly162Asp	602880.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602880	TETRALOGY OF FALLOT	OMIM	304	pfam00688	110349792,NP_001483
4950	3914196	Disease	p.Phe219Ser	602876.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602876	BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYTIA	OMIM	180	pfam01284	4505487,NP_002529
701	59814247	Disease	p.Leu844Phe	602860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602860	MOSAIC VARIEGATED ANEUPLOIDY SYNDROME||PREMATURE CHROMATID SEPARATION TRAIT	OMIM	No Domain	N/A	NULL
701	59814247	Disease	p.Gln921His	602860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602860	MOSAIC VARIEGATED ANEUPLOIDY SYNDROME||PREMATURE CHROMATID SEPARATION TRAIT	OMIM	No Domain	N/A	NULL
701	59814247	Disease	p.Arg814His	602860.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602860	MOSAIC VARIEGATED ANEUPLOIDY SYNDROME||PREMATURE CHROMATID SEPARATION TRAIT	OMIM	No Domain	N/A	NULL
701	59814247	Disease	p.Leu1012Pro	602860.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602860	MOSAIC VARIEGATED ANEUPLOIDY SYNDROME||PREMATURE CHROMATID SEPARATION TRAIT	OMIM	No Domain	N/A	NULL
701	59814247	Disease	p.Arg550Gln	602860.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602860	MOSAIC VARIEGATED ANEUPLOIDY SYNDROME||PREMATURE CHROMATID SEPARATION TRAIT	OMIM	No Domain	N/A	NULL
5192	24797089	Disease	p.His290Gln	602859.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602859	NEONATAL ADRENOLEUKODYSTROPHY	OMIM	No Domain	N/A	NULL
5192	3914299	Disease	p.His290Gln	602859.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602859	NEONATAL ADRENOLEUKODYSTROPHY	OMIM	44	cd00162	4505715,NP_002608
5192	3914299	Disease	p.His290Gln	602859.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602859	NEONATAL ADRENOLEUKODYSTROPHY	OMIM	43	smart00184	4505715,NP_002608
5192	3914299	Disease	p.His290Gln	602859.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602859	NEONATAL ADRENOLEUKODYSTROPHY	OMIM	34	pfam00097	4505715,NP_002608
1717	20138066	Disease	p.His119Leu	602858.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME	OMIM	96_G	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.His119Leu	602858.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME	OMIM	96_G	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Gly244Arg	602858.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME	OMIM	236	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Gly244Arg	602858.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME	OMIM	236	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Trp248Cys	602858.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME	OMIM	240	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Trp248Cys	602858.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME	OMIM	240	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Thr93Met	602858.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME	OMIM	77	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Thr93Met	602858.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME	OMIM	77	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Val326Leu	602858.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME	OMIM	320	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Val326Leu	602858.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME	OMIM	320	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Arg352Trp	602858.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME	OMIM	349	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Arg352Trp	602858.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME	OMIM	349	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Arg404Cys	602858.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME	OMIM	404	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Arg404Cys	602858.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME	OMIM	404	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Thr289Ile	602858.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME	OMIM	283	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Thr289Ile	602858.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME	OMIM	283	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Tyr280Cys	602858.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME	OMIM	274	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Tyr280Cys	602858.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME	OMIM	274	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Met1Leu	602858.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME, MILD	OMIM	No Domain	N/A	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Met1Leu	602858.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME, MILD	OMIM	No Domain	N/A	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Glu448Lys	602858.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME, MILD	OMIM	480	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Glu448Lys	602858.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME, MILD	OMIM	480	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Phe284Leu	602858.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME, MILD	OMIM	278	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Phe284Leu	602858.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME, MILD	OMIM	278	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Met1Val	602858.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME, MILD	OMIM	No Domain	N/A	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Met1Val	602858.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME, MILD	OMIM	No Domain	N/A	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Arg352Gln	602858.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME	OMIM	349	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Arg352Gln	602858.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602858	SMITH-LEMLI-OPITZ SYNDROME	OMIM	349	pfam01222	255308875,NP_001157289|119943112,NP_001351
84059	113722120	Disease	p.Tyr6044Cys	602851.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602851	USHER SYNDROME, TYPE IIC	OMIM	222	pfam00002	NULL
3798	143811412	Disease	p.Asn256Ser	602821.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	273	cd01373	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	602821.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	351	cd01365	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	602821.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	430	cd01372	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	602821.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	443	cd01367	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	602821.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	313	cd01371	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	602821.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	362	cd01369	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	602821.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	442	cd01364	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	602821.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	372	cd01370	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	602821.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	404	cd01374	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	602821.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	973	smart00129	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	602821.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	329	cd01366	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	602821.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	432	cd01368	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	602821.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	802	cd00106	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	602821.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	384	cd01375	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	602821.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	315	cd01376	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	602821.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	493	COG5059	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	602821.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	637	cd01363	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	602821.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	530	pfam00225	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	602821.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	301	cd01373	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	602821.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	406	cd01365	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	602821.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	471	cd01372	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	602821.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	477	cd01367	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	602821.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	337	cd01371	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	602821.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	389	cd01369	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	602821.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	466	cd01364	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	602821.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	410	cd01370	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	602821.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	458	cd01374	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	602821.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	1105	smart00129	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	602821.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	359	cd01366	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	602821.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	475	cd01368	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	602821.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	948	cd00106	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	602821.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	411	cd01375	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	602821.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	344	cd01376	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	602821.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	547	COG5059	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	602821.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	660	cd01363	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	602821.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	585	pfam00225	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	602821.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	293	cd01373	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	602821.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	402	cd01365	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	602821.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	467	cd01372	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	602821.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	473	cd01367	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	602821.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	333	cd01371	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	602821.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	385	cd01369	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	602821.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	462	cd01364	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	602821.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	406	cd01370	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	602821.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	454	cd01374	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	602821.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	1101	smart00129	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	602821.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	355	cd01366	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	602821.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	471	cd01368	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	602821.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	944	cd00106	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	602821.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	407	cd01375	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	602821.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	340	cd01376	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	602821.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	543	COG5059	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	602821.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	656	cd01363	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	602821.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	581	pfam00225	45446749,NP_004975
3798	143811412	Disease	p.Ala361Val	602821.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602821	SPASTIC PARAPLEGIA 10	OMIM	644	COG5059	45446749,NP_004975
6687	40806173	Disease	p.Ser692Thr	602783.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
6687	116242796	Disease	p.Ser692Thr	602783.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	682	COG0465	4507173,NP_003110
6687	116242796	Disease	p.Ser692Thr	602783.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	143	pfam01434	4507173,NP_003110
6687	40806173	Disease	p.Gly349Ser	602783.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	5	pfam00004	NULL
6687	40806173	Disease	p.Gly349Ser	602783.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	90	cd00009	NULL
6687	40806173	Disease	p.Gly349Ser	602783.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	240	COG1222	NULL
6687	40806173	Disease	p.Gly349Ser	602783.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	305	COG0465	NULL
6687	40806173	Disease	p.Gly349Ser	602783.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	9	smart00382	NULL
6687	40806173	Disease	p.Gly349Ser	602783.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	167	COG1223	NULL
6687	116242796	Disease	p.Gly349Ser	602783.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	305	COG0465	4507173,NP_003110
6687	116242796	Disease	p.Gly349Ser	602783.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	493	COG0464	4507173,NP_003110
6687	116242796	Disease	p.Gly349Ser	602783.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	9	smart00382	4507173,NP_003110
6687	116242796	Disease	p.Gly349Ser	602783.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	10	pfam07724	4507173,NP_003110
6687	116242796	Disease	p.Gly349Ser	602783.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	167	COG1223	4507173,NP_003110
6687	116242796	Disease	p.Gly349Ser	602783.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	5	pfam00004	4507173,NP_003110
6687	116242796	Disease	p.Gly349Ser	602783.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	90	cd00009	4507173,NP_003110
6687	116242796	Disease	p.Gly349Ser	602783.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	240	COG1222	4507173,NP_003110
6687	116242796	Disease	p.Gly349Ser	602783.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	6	pfam07728	4507173,NP_003110
6687	40806173	Disease	p.Trp583Cys	602783.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
6687	116242796	Disease	p.Trp583Cys	602783.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	554	COG0465	4507173,NP_003110
6687	116242796	Disease	p.Trp583Cys	602783.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602783	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	OMIM	23	pfam01434	4507173,NP_003110
8036	14423936	Disease	p.Ser2Gly	602775.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602775	NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR	OMIM	No Domain	N/A	41281398,NP_031399
5889	4506391	Disease	p.Arg258His	602774.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602774	FANCONI ANEMIA, COMPLEMENTATION GROUP O	OMIM	No Domain	N/A	NULL
5889	3914534	Disease	p.Arg258His	602774.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602774	FANCONI ANEMIA, COMPLEMENTATION GROUP O	OMIM	597	COG0468	17402896,NP_478123
5889	3914534	Disease	p.Arg258His	602774.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602774	FANCONI ANEMIA, COMPLEMENTATION GROUP O	OMIM	283	cd01120	17402896,NP_478123
5889	3914534	Disease	p.Arg258His	602774.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602774	FANCONI ANEMIA, COMPLEMENTATION GROUP O	OMIM	349	smart00382	17402896,NP_478123
5889	3914534	Disease	p.Arg258His	602774.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602774	FANCONI ANEMIA, COMPLEMENTATION GROUP O	OMIM	167	pfam08423	17402896,NP_478123
5889	3914534	Disease	p.Arg258His	602774.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602774	FANCONI ANEMIA, COMPLEMENTATION GROUP O	OMIM	193	cd01393	17402896,NP_478123
5889	3914534	Disease	p.Arg258His	602774.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602774	FANCONI ANEMIA, COMPLEMENTATION GROUP O	OMIM	192	cd01123	17402896,NP_478123
5889	3914534	Disease	p.Arg258His	602774.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602774	FANCONI ANEMIA, COMPLEMENTATION GROUP O	OMIM	133	cd01394	17402896,NP_478123
84733	14249190	Disease	p.Pro98Leu	602770.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602770	46,XY GONADAL DYSGENESIS, COMPLETE, CBX2-RELATED	OMIM	No Domain	N/A	NULL
84733	77416853	Disease	p.Pro98Leu	602770.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602770	46,XY GONADAL DYSGENESIS, COMPLETE, CBX2-RELATED	OMIM	No Domain	N/A	61743963,NP_005180
84733	14249190	Disease	p.Arg443Pro	602770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602770	46,XY GONADAL DYSGENESIS, COMPLETE, CBX2-RELATED	OMIM	No Domain	N/A	NULL
84733	77416853	Disease	p.Arg443Pro	602770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602770	46,XY GONADAL DYSGENESIS, COMPLETE, CBX2-RELATED	OMIM	No Domain	N/A	61743963,NP_005180
10683	12229810	Disease	p.Gly385Asp	602768.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602768	SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE	OMIM	67	cd00053	8393264,NP_058637
10683	12229810	Disease	p.Gly385Asp	602768.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602768	SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE	OMIM	68	smart00181	8393264,NP_058637
10683	12229810	Disease	p.Gly385Asp	602768.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602768	SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE	OMIM	80	smart00179	8393264,NP_058637
10683	12229810	Disease	p.Gly385Asp	602768.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602768	SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE	OMIM	71	cd00054	8393264,NP_058637
10683	12229810	Disease	p.Gly385Asp	602768.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602768	SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE	OMIM	48	pfam00008	8393264,NP_058637
10683	45243561	Disease	p.Gly385Asp	602768.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602768	SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE	OMIM	67	cd00053	NULL
10683	45243561	Disease	p.Gly385Asp	602768.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602768	SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE	OMIM	68	smart00181	NULL
10683	45243561	Disease	p.Gly385Asp	602768.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602768	SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE	OMIM	80	smart00179	NULL
10683	45243561	Disease	p.Gly385Asp	602768.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602768	SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE	OMIM	71	cd00054	NULL
10683	45243561	Disease	p.Gly385Asp	602768.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602768	SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE	OMIM	48	pfam00008	NULL
10683	12229810	Disease	p.Gly504Asp	602768.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602768	SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	8393264,NP_058637
10683	45243561	Disease	p.Gly504Asp	602768.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602768	SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
3891	48474780	Disease	p.Arg78His	602767.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602767	ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE	OMIM	No Domain	N/A	4504935,NP_002274
3888	148887391	Disease	p.Glu407Lys	602765.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602765	MONILETHRIX	OMIM	360	pfam00038	27477127,NP_149022
401	77416873	Disease	p.Ala72Val	602753.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602753	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2	OMIM	32	COG5576	46249382,NP_005160
8443	3913409	Disease	p.Arg211His	602744.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602744	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2	OMIM	185	smart00563	7657134,NP_055051
8443	3913409	Disease	p.Arg211His	602744.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602744	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2	OMIM	384	COG2937	7657134,NP_055051
8443	3913409	Disease	p.Arg211His	602744.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602744	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2	OMIM	89	cd07993	7657134,NP_055051
8443	3913409	Disease	p.Arg211His	602744.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602744	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2	OMIM	107	cd06551	7657134,NP_055051
8443	3913409	Disease	p.Arg211His	602744.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602744	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2	OMIM	102	pfam01553	7657134,NP_055051
8443	3913409	Disease	p.Arg211His	602744.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602744	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2	OMIM	165	COG0204	7657134,NP_055051
8443	3913409	Disease	p.Arg211Cys	602744.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602744	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2	OMIM	185	smart00563	7657134,NP_055051
8443	3913409	Disease	p.Arg211Cys	602744.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602744	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2	OMIM	384	COG2937	7657134,NP_055051
8443	3913409	Disease	p.Arg211Cys	602744.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602744	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2	OMIM	89	cd07993	7657134,NP_055051
8443	3913409	Disease	p.Arg211Cys	602744.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602744	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2	OMIM	107	cd06551	7657134,NP_055051
8443	3913409	Disease	p.Arg211Cys	602744.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602744	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2	OMIM	102	pfam01553	7657134,NP_055051
8443	3913409	Disease	p.Arg211Cys	602744.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602744	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2	OMIM	165	COG0204	7657134,NP_055051
51422	100913192	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	296	COG0517	NULL
51422	100913192	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	133	cd02205	NULL
51422	100913192	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	91	cd04618	NULL
51422	14285344	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	85	COG0517	33186925,NP_057287
51422	14285344	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	29	smart00116	33186925,NP_057287
51422	14285344	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	38	cd02205	33186925,NP_057287
51422	14285344	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	27	cd04618	33186925,NP_057287
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	114	cd04601	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	126	cd04600	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	110	pfam00571	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	137	cd04586	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	65	smart00116	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	147	cd04590	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	115	cd04622	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	135	cd04641	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	96	cd04599	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	135	cd04634	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	108	cd04629	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	169	cd04642	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	146	cd04623	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	111	cd04611	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	131	cd04621	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	141	cd04800	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	128	cd04631	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	102	cd04588	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	217	cd02205	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	148	cd04612	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	124	cd04635	NULL
51422	100913189	Disease	p.Arg302Gln	602743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	476	COG0517	NULL
51422	100913192	Disease	p.His142Arg	602743.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	No Domain	N/A	NULL
51422	14285344	Disease	p.His142Arg	602743.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	No Domain	N/A	33186925,NP_057287
51422	100913189	Disease	p.His142Arg	602743.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	25	cd04584	NULL
51422	100913189	Disease	p.His142Arg	602743.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	26	cd04627	NULL
51422	100913189	Disease	p.His142Arg	602743.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	25	cd04585	NULL
51422	100913189	Disease	p.His142Arg	602743.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	25	cd04803	NULL
51422	100913189	Disease	p.His142Arg	602743.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	25	cd04633	NULL
51422	100913189	Disease	p.His142Arg	602743.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	25	cd04637	NULL
51422	100913189	Disease	p.His142Arg	602743.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	25	cd04802	NULL
51422	100913189	Disease	p.His142Arg	602743.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	26	cd04636	NULL
51422	100913189	Disease	p.His142Arg	602743.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	67	pfam00571	NULL
51422	100913189	Disease	p.His142Arg	602743.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	383	COG0517	NULL
51422	100913189	Disease	p.His142Arg	602743.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	29	smart00116	NULL
51422	100913189	Disease	p.His142Arg	602743.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	196	cd02205	NULL
51422	100913189	Disease	p.His142Arg	602743.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	141	cd04618	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	10	smart00116	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	12	cd04600	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	28	COG0517	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	14	cd04590	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	11	cd04622	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	11	cd04641	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	11	cd04599	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	11	cd04634	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	11	cd04629	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	11	cd04642	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	11	cd04623	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	11	cd04611	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	11	cd04621	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	11	cd04800	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	11	cd04631	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	11	cd04588	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	14	cd02205	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	16	cd04612	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	11	cd04635	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	39	pfam00571	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	12	cd04586	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	12	cd04601	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	87	cd04584	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	100	cd04627	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	98	cd04585	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	111	cd04803	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	92	cd04633	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	87	cd04637	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	89	cd04802	NULL
51422	100913192	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	106	cd04636	NULL
51422	14285344	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	41	cd04584	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	44	cd04627	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	58	cd04585	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	42	cd04803	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	45	cd04633	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	41	cd04637	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	41	cd04802	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	51	cd04636	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	479	COG0517	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	68	smart00116	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	113	pfam00571	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	220	cd02205	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	163	cd04618	33186925,NP_057287
51422	100913189	Disease	p.Thr400Asn	602743.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	No Domain	N/A	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	114	cd04600	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	385	COG0517	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	31	smart00116	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	131	cd04590	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	100	cd04622	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	119	cd04641	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	85	cd04599	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	124	cd04634	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	97	cd04629	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	152	cd04642	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	125	cd04623	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	99	cd04611	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	120	cd04621	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	126	cd04800	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	116	cd04631	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	91	cd04588	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	198	cd02205	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	135	cd04612	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	101	cd04635	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	126	cd04586	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	102	cd04601	NULL
51422	100913192	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	69	pfam00571	NULL
51422	14285344	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	199	COG0517	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	59	cd04601	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	57	cd04600	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	63	cd04590	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	61	cd04622	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	56	cd04641	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	50	cd04599	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	56	cd04634	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	55	cd04629	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	79	cd04642	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	76	cd04623	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	58_G	cd04611	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	56	cd04621	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	86_G	cd04800	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	66	cd04631	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	55	cd04588	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	96	cd02205	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	62	cd04612	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	50_G	cd04635	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	56	cd04586	33186925,NP_057287
51422	100913189	Disease	p.Asn488Ile	602743.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	No Domain	N/A	NULL
51422	100913192	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	No Domain	N/A	NULL
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	384	COG0517	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	101	cd04601	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	113	cd04600	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	130	cd04590	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	99	cd04622	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	118	cd04641	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	84	cd04599	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	123	cd04634	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	96	cd04629	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	151	cd04642	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	124	cd04623	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	98	cd04611	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	119	cd04621	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	125	cd04800	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	115	cd04631	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	90	cd04588	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	197	cd02205	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	134	cd04612	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	100	cd04635	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	68	pfam00571	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	125	cd04586	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	30	smart00116	33186925,NP_057287
51422	100913189	Disease	p.Arg531Gly	602743.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET	OMIM	No Domain	N/A	NULL
51422	100913192	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	No Domain	N/A	NULL
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	384	COG0517	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	101	cd04601	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	113	cd04600	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	130	cd04590	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	99	cd04622	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	118	cd04641	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	84	cd04599	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	123	cd04634	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	96	cd04629	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	151	cd04642	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	124	cd04623	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	98	cd04611	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	119	cd04621	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	125	cd04800	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	115	cd04631	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	90	cd04588	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	197	cd02205	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	134	cd04612	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	100	cd04635	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	68	pfam00571	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	125	cd04586	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	30	smart00116	33186925,NP_057287
51422	100913189	Disease	p.Arg531Gln	602743.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	OMIM	No Domain	N/A	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	113	cd04600	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	384	COG0517	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	30	smart00116	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	130	cd04590	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	99	cd04622	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	118	cd04641	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	84	cd04599	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	123	cd04634	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	96	cd04629	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	151	cd04642	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	124	cd04623	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	98	cd04611	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	119	cd04621	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	125	cd04800	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	115	cd04631	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	90	cd04588	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	197	cd02205	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	134	cd04612	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	100	cd04635	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	125	cd04586	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	101	cd04601	NULL
51422	100913192	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	68	pfam00571	NULL
51422	14285344	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	198	COG0517	33186925,NP_057287
51422	14285344	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	58	cd04601	33186925,NP_057287
51422	14285344	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	56	cd04600	33186925,NP_057287
51422	14285344	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	62	cd04590	33186925,NP_057287
51422	14285344	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	60	cd04622	33186925,NP_057287
51422	14285344	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	55	cd04641	33186925,NP_057287
51422	14285344	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	49_G	cd04599	33186925,NP_057287
51422	14285344	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	55	cd04634	33186925,NP_057287
51422	14285344	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	54	cd04629	33186925,NP_057287
51422	14285344	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	78	cd04642	33186925,NP_057287
51422	14285344	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	75	cd04623	33186925,NP_057287
51422	14285344	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	58_G	cd04611	33186925,NP_057287
51422	14285344	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	55	cd04621	33186925,NP_057287
51422	14285344	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	86	cd04800	33186925,NP_057287
51422	14285344	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	65	cd04631	33186925,NP_057287
51422	14285344	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	54	cd04588	33186925,NP_057287
51422	14285344	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	95	cd02205	33186925,NP_057287
51422	14285344	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	61	cd04612	33186925,NP_057287
51422	14285344	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	50_G	cd04635	33186925,NP_057287
51422	14285344	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	55	cd04586	33186925,NP_057287
51422	100913189	Disease	p.Tyr487His	602743.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	No Domain	N/A	NULL
51422	100913192	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	No Domain	N/A	NULL
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	383	COG0517	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	100	cd04601	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	112	cd04600	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	129	cd04590	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	98	cd04622	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	117	cd04641	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	83	cd04599	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	122	cd04634	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	95	cd04629	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	150	cd04642	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	123	cd04623	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	97	cd04611	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	118	cd04621	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	124	cd04800	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	114	cd04631	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	89	cd04588	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	196	cd02205	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	133	cd04612	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	99	cd04635	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	67	pfam00571	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	124	cd04586	33186925,NP_057287
51422	14285344	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	29	smart00116	33186925,NP_057287
51422	100913189	Disease	p.His530Arg	602743.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	No Domain	N/A	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	133	cd04600	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	483	COG0517	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	72	smart00116	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	154	cd04590	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	122	cd04622	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	142	cd04641	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	103	cd04599	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	142	cd04634	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	115	cd04629	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	176	cd04642	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	153	cd04623	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	118	cd04611	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	138	cd04621	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	148	cd04800	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	135	cd04631	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	109	cd04588	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	229	cd02205	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	155	cd04612	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	131	cd04635	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	144	cd04586	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	121	cd04601	NULL
51422	100913192	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	117	pfam00571	NULL
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	334	COG0517	33186925,NP_057287
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	76	cd04601	33186925,NP_057287
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	87	cd04600	33186925,NP_057287
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	103	cd04590	33186925,NP_057287
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	73	cd04622	33186925,NP_057287
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	88	cd04641	33186925,NP_057287
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	59	cd04599	33186925,NP_057287
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	78	cd04634	33186925,NP_057287
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	71_G	cd04629	33186925,NP_057287
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	119	cd04642	33186925,NP_057287
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	95	cd04623	33186925,NP_057287
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	73_G	cd04611	33186925,NP_057287
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	88	cd04621	33186925,NP_057287
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	100	cd04800	33186925,NP_057287
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	90	cd04631	33186925,NP_057287
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	65	cd04588	33186925,NP_057287
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	146	cd02205	33186925,NP_057287
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	108	cd04612	33186925,NP_057287
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	65	cd04635	33186925,NP_057287
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	23	pfam00571	33186925,NP_057287
51422	14285344	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	74	cd04586	33186925,NP_057287
51422	100913189	Disease	p.Glu506Gln	602743.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	No Domain	N/A	NULL
51422	100913192	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	No Domain	N/A	NULL
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	481	COG0517	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	119	cd04601	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	131	cd04600	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	152	cd04590	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	120	cd04622	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	140	cd04641	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	101	cd04599	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	140	cd04634	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	113	cd04629	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	174	cd04642	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	151	cd04623	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	116	cd04611	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	136	cd04621	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	146	cd04800	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	133	cd04631	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	107	cd04588	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	227	cd02205	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	153	cd04612	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	129	cd04635	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	115	pfam00571	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	142	cd04586	33186925,NP_057287
51422	14285344	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	70	smart00116	33186925,NP_057287
51422	100913189	Disease	p.Ser548Pro	602743.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602743	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6	OMIM	No Domain	N/A	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	85	cd07128	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	122	COG1012	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	81	cd07097	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	63	cd07147	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	63	cd07150	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	63	cd07149	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	46	cd06534	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	40	cd07133	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	206	cd07125	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	41	cd07134	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	98	cd07083	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	74	cd07151	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	91	cd07143	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	99	pfam00171	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	85	cd07142	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	89	cd07144	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	61	cd07090	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	64	cd07114	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	66	cd07109	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	63	cd07093	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	63	cd07103	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	63	cd07089	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	61	cd07108	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	62	cd07106	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	62	cd07120	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	63	cd07092	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	66	cd07110	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	64	cd07115	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	61	cd07107	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	42	cd07095	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	42	cd07105	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	42	cd07104	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	89	cd07141	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	68	cd07112	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	42	cd07129	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	42	cd07084	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	42	cd07100	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	41	cd07137	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	81	cd07139	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	55	cd07152	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	64	cd07118	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	60	cd07102	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	126	cd07124	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	40	cd07136	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	64	cd07135	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	79	cd07130	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	80	cd07119	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	80	cd07117	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	81	cd07113	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	98	cd07082	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	118	cd07123	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	64	cd07146	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	63	cd07145	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	61	cd07099	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	60	cd07101	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	64	cd07094	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	62	cd07098	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	87	cd07091	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	80	cd07086	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	79	cd07131	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	91	cd07126	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	83	cd07138	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	80	cd07116	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	80	cd07085	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	80	cd07559	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	40	cd07132	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	50	cd07087	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	50	cd07078	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	102	cd07111	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	77	cd07088	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	87	cd07140	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	202	COG4230	NULL
223	115387104	Disease	p.Cys115Ser	602733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602733	ALDH9A1*2 POLYMORPHISM	OMIM	64	cd07148	NULL
93	97535735	Disease	p.Arg40His	602730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602730	HETEROTAXY, VISCERAL, 4, AUTOSOMAL	OMIM	25	pfam01064	116734708,NP_001097
93	97535735	Disease	p.Val494Ile	602730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602730	HETEROTAXY, VISCERAL, 4, AUTOSOMAL	OMIM	521	cd07834	116734708,NP_001097
93	97535735	Disease	p.Val494Ile	602730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602730	HETEROTAXY, VISCERAL, 4, AUTOSOMAL	OMIM	272	cd05608	116734708,NP_001097
1186	12644301	Disease	p.Arg762Gln	602727.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	353	COG0517	14149607,NP_001278
1186	12644301	Disease	p.Arg762Gln	602727.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	252	cd04591	14149607,NP_001278
1186	12644301	Disease	p.Arg762Gln	602727.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	19	smart00116	14149607,NP_001278
1186	12644301	Disease	p.Arg762Gln	602727.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	127	cd04612	14149607,NP_001278
1186	12644301	Disease	p.Arg762Gln	602727.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	51	pfam00571	14149607,NP_001278
1186	12644301	Disease	p.Arg762Gln	602727.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	182	cd02205	14149607,NP_001278
1186	167466160	Disease	p.Arg762Gln	602727.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	116	pfam00571	NULL
1186	167466160	Disease	p.Arg762Gln	602727.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	71	smart00116	NULL
1186	167466160	Disease	p.Arg762Gln	602727.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	154	cd04612	NULL
1186	167466160	Disease	p.Arg762Gln	602727.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	284	cd04591	NULL
1186	167466160	Disease	p.Arg762Gln	602727.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	482	COG0517	NULL
1186	167466160	Disease	p.Arg762Gln	602727.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	228	cd02205	NULL
1186	12644301	Disease	p.Leu766Pro	602727.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	382	COG0517	14149607,NP_001278
1186	12644301	Disease	p.Leu766Pro	602727.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	256	cd04591	14149607,NP_001278
1186	12644301	Disease	p.Leu766Pro	602727.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	28	smart00116	14149607,NP_001278
1186	12644301	Disease	p.Leu766Pro	602727.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	132	cd04612	14149607,NP_001278
1186	12644301	Disease	p.Leu766Pro	602727.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	66	pfam00571	14149607,NP_001278
1186	12644301	Disease	p.Leu766Pro	602727.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	195	cd02205	14149607,NP_001278
1186	167466160	Disease	p.Leu766Pro	602727.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	120	pfam00571	NULL
1186	167466160	Disease	p.Leu766Pro	602727.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	75	smart00116	NULL
1186	12644301	Disease	p.Arg767Trp	602727.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL DOMINANT 2	OMIM	383	COG0517	14149607,NP_001278
1186	12644301	Disease	p.Arg767Trp	602727.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL DOMINANT 2	OMIM	257	cd04591	14149607,NP_001278
1186	12644301	Disease	p.Arg767Trp	602727.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL DOMINANT 2	OMIM	29	smart00116	14149607,NP_001278
1186	12644301	Disease	p.Arg767Trp	602727.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL DOMINANT 2	OMIM	133	cd04612	14149607,NP_001278
1186	12644301	Disease	p.Arg767Trp	602727.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL DOMINANT 2	OMIM	67	pfam00571	14149607,NP_001278
1186	12644301	Disease	p.Arg767Trp	602727.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL DOMINANT 2	OMIM	196	cd02205	14149607,NP_001278
1186	167466160	Disease	p.Arg767Trp	602727.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL DOMINANT 2	OMIM	121	pfam00571	NULL
1186	167466160	Disease	p.Arg767Trp	602727.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL DOMINANT 2	OMIM	76	smart00116	NULL
1186	12644301	Disease	p.Ile261Phe	602727.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	108	pfam00654	14149607,NP_001278
1186	12644301	Disease	p.Ile261Phe	602727.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	174	cd00400	14149607,NP_001278
1186	12644301	Disease	p.Ile261Phe	602727.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	244	cd03684	14149607,NP_001278
1186	12644301	Disease	p.Ile261Phe	602727.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	163	cd01036	14149607,NP_001278
1186	12644301	Disease	p.Ile261Phe	602727.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	175	cd03685	14149607,NP_001278
1186	12644301	Disease	p.Ile261Phe	602727.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	123	cd01034	14149607,NP_001278
1186	12644301	Disease	p.Ile261Phe	602727.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	214	COG0038	14149607,NP_001278
1186	12644301	Disease	p.Ile261Phe	602727.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	128	cd01031	14149607,NP_001278
1186	12644301	Disease	p.Ile261Phe	602727.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	151	cd03683	14149607,NP_001278
1186	167466160	Disease	p.Ile261Phe	602727.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	152	pfam00654	NULL
1186	167466160	Disease	p.Ile261Phe	602727.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	199	cd03685	NULL
1186	167466160	Disease	p.Ile261Phe	602727.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	170	cd03683	NULL
1186	167466160	Disease	p.Ile261Phe	602727.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	143	cd01034	NULL
1186	167466160	Disease	p.Ile261Phe	602727.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	142	cd01031	NULL
1186	167466160	Disease	p.Ile261Phe	602727.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	230	COG0038	NULL
1186	167466160	Disease	p.Ile261Phe	602727.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	198	cd00400	NULL
1186	167466160	Disease	p.Ile261Phe	602727.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	260	cd03684	NULL
1186	167466160	Disease	p.Ile261Phe	602727.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602727	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4	OMIM	188	cd01036	NULL
4868	20177993	Disease	p.Glu447Lys	602716.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602716	NEPHROTIC SYNDROME, TYPE 1	OMIM	4	pfam08205	4758822,NP_004637
4868	20177993	Disease	p.Cys265Arg	602716.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602716	NEPHROTIC SYNDROME, TYPE 1	OMIM	23	cd07693	4758822,NP_004637
4868	20177993	Disease	p.Cys265Arg	602716.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602716	NEPHROTIC SYNDROME, TYPE 1	OMIM	5	cd00096	4758822,NP_004637
4868	20177993	Disease	p.Cys265Arg	602716.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602716	NEPHROTIC SYNDROME, TYPE 1	OMIM	6	cd05759	4758822,NP_004637
4868	20177993	Disease	p.Cys265Arg	602716.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602716	NEPHROTIC SYNDROME, TYPE 1	OMIM	18	smart00409	4758822,NP_004637
4868	20177993	Disease	p.Cys265Arg	602716.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602716	NEPHROTIC SYNDROME, TYPE 1	OMIM	18	smart00410	4758822,NP_004637
4868	20177993	Disease	p.Cys265Arg	602716.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602716	NEPHROTIC SYNDROME, TYPE 1	OMIM	8	pfam00047	4758822,NP_004637
4868	20177993	Disease	p.Cys265Arg	602716.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602716	NEPHROTIC SYNDROME, TYPE 1	OMIM	27	pfam08205	4758822,NP_004637
4868	20177993	Disease	p.Cys265Arg	602716.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602716	NEPHROTIC SYNDROME, TYPE 1	OMIM	23	pfam07679	4758822,NP_004637
4868	20177993	Disease	p.Cys265Arg	602716.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602716	NEPHROTIC SYNDROME, TYPE 1	OMIM	6	cd05761	4758822,NP_004637
4868	20177993	Disease	p.Val822Met	602716.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602716	NEPHROTIC SYNDROME, TYPE 1	OMIM	226	smart00409	4758822,NP_004637
4868	20177993	Disease	p.Val822Met	602716.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602716	NEPHROTIC SYNDROME, TYPE 1	OMIM	226	smart00410	4758822,NP_004637
6392	3913480	Disease	p.His145Asn	602690.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602690	COWDEN-LIKE SYNDROME	OMIM	101	cd03496	4506865,NP_002993
6392	3913480	Disease	p.His145Asn	602690.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602690	COWDEN-LIKE SYNDROME	OMIM	105	pfam05328	4506865,NP_002993
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	333	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	443	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	420	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	742	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	683	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	507	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	760	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	256219543	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	321_G	COG2814	NULL
2542	256219543	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	391	COG2271	NULL
2542	256219543	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	427	COG2223	NULL
2542	256219543	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	742	COG0477	NULL
2542	256219543	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	646	pfam07690	NULL
2542	256219543	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	468	pfam00083	NULL
2542	256219543	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	667	cd06174	NULL
2542	256219564	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	507	COG2271	NULL
2542	256219564	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	910	cd06174	NULL
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	333	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	443	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	420	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	742	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	683	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	507	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	760	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	333	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	443	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	420	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	742	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	683	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	507	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	602671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	760	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	119	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	137	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	142	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	300	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	245	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	202	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	220	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	256219543	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	119	COG2814	NULL
2542	256219543	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	142	COG2271	NULL
2542	256219543	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	137	COG2223	NULL
2542	256219543	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	300	COG0477	NULL
2542	256219543	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	245	pfam07690	NULL
2542	256219543	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	202	pfam00083	NULL
2542	256219543	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	220	cd06174	NULL
2542	256219564	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	243	COG2271	NULL
2542	256219564	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	355	cd06174	NULL
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	119	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	137	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	142	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	300	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	245	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	202	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	220	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	119	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	137	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	142	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	300	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	245	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	202	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	602671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	220	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	26_G	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	32_G	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	45	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	31	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	12	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	17	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	15	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	256219543	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	26_G	COG2814	NULL
2542	256219543	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	45	COG2271	NULL
2542	256219543	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	32_G	COG2223	NULL
2542	256219543	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	31	COG0477	NULL
2542	256219543	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	12	pfam07690	NULL
2542	256219543	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	17	pfam00083	NULL
2542	256219543	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	15	cd06174	NULL
2542	256219564	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	125	COG2271	NULL
2542	256219564	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	203	cd06174	NULL
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	26_G	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	32_G	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	45	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	31	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	12	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	17	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	15	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	26_G	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	32_G	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	45	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	31	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	12	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	17	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	602671.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	15	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	333	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	443	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	420	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	742	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	683	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	507	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	760	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	256219543	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	321_G	COG2814	NULL
2542	256219543	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	391	COG2271	NULL
2542	256219543	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	427	COG2223	NULL
2542	256219543	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	742	COG0477	NULL
2542	256219543	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	646	pfam07690	NULL
2542	256219543	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	468	pfam00083	NULL
2542	256219543	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	667	cd06174	NULL
2542	256219564	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	507	COG2271	NULL
2542	256219564	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	910	cd06174	NULL
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	333	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	443	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	420	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	742	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	683	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	507	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	760	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	333	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	443	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	420	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	742	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	683	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	507	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	602671.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602671	GLYCOGEN STORAGE DISEASE Ib	OMIM	760	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
5309	6093723	Disease	p.Ser13Asn	602669.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602669	CATARACT, CONGENITAL	OMIM	No Domain	N/A	4826912,NP_005020
9048	209954778	Disease	p.Arg215Trp	602667.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602667	NIJMEGEN BREAKAGE SYNDROME	OMIM	102	pfam00019	NULL
9048	209977029	Disease	p.Arg215Trp	602667.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602667	NIJMEGEN BREAKAGE SYNDROME	OMIM	102	pfam00019	NULL
9048	74744994	Disease	p.Arg215Trp	602667.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602667	NIJMEGEN BREAKAGE SYNDROME	OMIM	111	pfam00019	209954781,NP_476432
51168	296439233	Disease	p.Ile892Phe	602666.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, AUTOSOMAL RECESSIVE 3	OMIM	No Domain	N/A	118402590,NP_057323
51168	296439233	Disease	p.Asn890Tyr	602666.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, AUTOSOMAL RECESSIVE 3	OMIM	No Domain	N/A	118402590,NP_057323
51168	296439233	Disease	p.Gln2716His	602666.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, AUTOSOMAL RECESSIVE 3	OMIM	No Domain	N/A	118402590,NP_057323
51168	296439233	Disease	p.Thr2205Ile	602666.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, WITH SMITH-MAGENIS SYNDROME	OMIM	110	pfam00784	118402590,NP_057323
51168	296439233	Disease	p.Thr2205Ile	602666.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, WITH SMITH-MAGENIS SYNDROME	OMIM	1245	COG5022	118402590,NP_057323
51168	296439233	Disease	p.Thr2205Ile	602666.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, WITH SMITH-MAGENIS SYNDROME	OMIM	477	smart00139	118402590,NP_057323
51168	296439233	Disease	p.Gly1831Val	602666.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, AUTOSOMAL RECESSIVE 3	OMIM	700	cd01384	118402590,NP_057323
51168	296439233	Disease	p.Gly1831Val	602666.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, AUTOSOMAL RECESSIVE 3	OMIM	740	cd01377	118402590,NP_057323
51168	296439233	Disease	p.Gly1831Val	602666.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, AUTOSOMAL RECESSIVE 3	OMIM	621	cd01387	118402590,NP_057323
51168	296439233	Disease	p.Gly1831Val	602666.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, AUTOSOMAL RECESSIVE 3	OMIM	615	cd01383	118402590,NP_057323
51168	296439233	Disease	p.Gly1831Val	602666.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, AUTOSOMAL RECESSIVE 3	OMIM	700	cd01380	118402590,NP_057323
51168	296439233	Disease	p.Gly1831Val	602666.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, AUTOSOMAL RECESSIVE 3	OMIM	613	cd01381	118402590,NP_057323
51168	296439233	Disease	p.Gly1831Val	602666.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, AUTOSOMAL RECESSIVE 3	OMIM	766	cd01386	118402590,NP_057323
51168	296439233	Disease	p.Gly1831Val	602666.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, AUTOSOMAL RECESSIVE 3	OMIM	1069	cd00124	118402590,NP_057323
51168	296439233	Disease	p.Gly1831Val	602666.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, AUTOSOMAL RECESSIVE 3	OMIM	814	cd01378	118402590,NP_057323
51168	296439233	Disease	p.Gly1831Val	602666.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, AUTOSOMAL RECESSIVE 3	OMIM	953	cd01379	118402590,NP_057323
51168	296439233	Disease	p.Gly1831Val	602666.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, AUTOSOMAL RECESSIVE 3	OMIM	764	cd01385	118402590,NP_057323
51168	296439233	Disease	p.Gly1831Val	602666.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, AUTOSOMAL RECESSIVE 3	OMIM	874	cd01382	118402590,NP_057323
51168	296439233	Disease	p.Gly1831Val	602666.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, AUTOSOMAL RECESSIVE 3	OMIM	883	pfam00063	118402590,NP_057323
51168	296439233	Disease	p.Gly1831Val	602666.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, AUTOSOMAL RECESSIVE 3	OMIM	752	COG5022	118402590,NP_057323
51168	296439233	Disease	p.Gly1831Val	602666.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602666	DEAFNESS, AUTOSOMAL RECESSIVE 3	OMIM	1382	smart00242	118402590,NP_057323
10381	308235963	Disease	p.Arg262Cys	602661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	91	pfam03953	NULL
10381	308235963	Disease	p.Arg262Cys	602661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	417	cd02188	NULL
10381	308235963	Disease	p.Arg262Cys	602661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	347	COG5023	NULL
10381	308235963	Disease	p.Arg262Cys	602661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	511	cd00286	NULL
10381	308235963	Disease	p.Arg262Cys	602661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	349	cd02186	NULL
10381	308235963	Disease	p.Arg262Cys	602661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	404	cd02190	NULL
10381	308235963	Disease	p.Arg262Cys	602661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	343	cd02187	NULL
10381	308235963	Disease	p.Arg262Cys	602661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	636	cd06059	NULL
10381	308235963	Disease	p.Arg262Cys	602661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	860	cd02189	NULL
10381	308235963	Disease	p.Arg262Cys	602661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	143	smart00865	NULL
10381	20455526	Disease	p.Arg262Cys	602661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	17	smart00865	50592996,NP_006077
10381	20455526	Disease	p.Arg262Cys	602661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	271	COG5023	50592996,NP_006077
10381	20455526	Disease	p.Arg262Cys	602661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	2	pfam03953	50592996,NP_006077
10381	20455526	Disease	p.Arg262Cys	602661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	392	cd00286	50592996,NP_006077
10381	20455526	Disease	p.Arg262Cys	602661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	527	cd06059	50592996,NP_006077
10381	20455526	Disease	p.Arg262Cys	602661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	665	cd02189	50592996,NP_006077
10381	20455526	Disease	p.Arg262Cys	602661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	270	cd02187	50592996,NP_006077
10381	20455526	Disease	p.Arg262Cys	602661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	320	cd02190	50592996,NP_006077
10381	20455526	Disease	p.Arg262Cys	602661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	275	cd02186	50592996,NP_006077
10381	20455526	Disease	p.Arg262Cys	602661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	313	cd02188	50592996,NP_006077
10381	308235963	Disease	p.Ala302Thr	602661.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	141	pfam03953	NULL
10381	308235963	Disease	p.Ala302Thr	602661.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	463	cd02188	NULL
10381	308235963	Disease	p.Ala302Thr	602661.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	395	COG5023	NULL
10381	308235963	Disease	p.Ala302Thr	602661.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	400	cd02186	NULL
10381	308235963	Disease	p.Ala302Thr	602661.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	444	cd02190	NULL
10381	308235963	Disease	p.Ala302Thr	602661.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	384	cd02187	NULL
10381	308235963	Disease	p.Ala302Thr	602661.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	696	cd06059	NULL
10381	308235963	Disease	p.Ala302Thr	602661.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	916	cd02189	NULL
10381	308235963	Disease	p.Ala302Thr	602661.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	218	smart00865	NULL
10381	20455526	Disease	p.Ala302Thr	602661.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	76	smart00865	50592996,NP_006077
10381	20455526	Disease	p.Ala302Thr	602661.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	314	COG5023	50592996,NP_006077
10381	20455526	Disease	p.Ala302Thr	602661.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	50	pfam03953	50592996,NP_006077
10381	20455526	Disease	p.Ala302Thr	602661.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	453	cd00286	50592996,NP_006077
10381	20455526	Disease	p.Ala302Thr	602661.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	571	cd06059	50592996,NP_006077
10381	20455526	Disease	p.Ala302Thr	602661.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	714	cd02189	50592996,NP_006077
10381	20455526	Disease	p.Ala302Thr	602661.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	310	cd02187	50592996,NP_006077
10381	20455526	Disease	p.Ala302Thr	602661.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	363	cd02190	50592996,NP_006077
10381	20455526	Disease	p.Ala302Thr	602661.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	315	cd02186	50592996,NP_006077
10381	20455526	Disease	p.Ala302Thr	602661.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	379	cd02188	50592996,NP_006077
10381	308235963	Disease	p.Asp417His	602661.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	No Domain	N/A	NULL
10381	20455526	Disease	p.Asp417His	602661.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	444	COG5023	50592996,NP_006077
10381	20455526	Disease	p.Asp417His	602661.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	743	cd06059	50592996,NP_006077
10381	20455526	Disease	p.Asp417His	602661.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	959	cd02189	50592996,NP_006077
10381	20455526	Disease	p.Asp417His	602661.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	428	cd02187	50592996,NP_006077
10381	20455526	Disease	p.Asp417His	602661.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	488	cd02190	50592996,NP_006077
10381	20455526	Disease	p.Asp417His	602661.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	443	cd02186	50592996,NP_006077
10381	20455526	Disease	p.Asp417His	602661.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	520	cd02188	50592996,NP_006077
10381	308235963	Disease	p.Asp417Asn	602661.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	No Domain	N/A	NULL
10381	20455526	Disease	p.Asp417Asn	602661.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	444	COG5023	50592996,NP_006077
10381	20455526	Disease	p.Asp417Asn	602661.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	743	cd06059	50592996,NP_006077
10381	20455526	Disease	p.Asp417Asn	602661.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	959	cd02189	50592996,NP_006077
10381	20455526	Disease	p.Asp417Asn	602661.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	428	cd02187	50592996,NP_006077
10381	20455526	Disease	p.Asp417Asn	602661.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	488	cd02190	50592996,NP_006077
10381	20455526	Disease	p.Asp417Asn	602661.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	443	cd02186	50592996,NP_006077
10381	20455526	Disease	p.Asp417Asn	602661.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	520	cd02188	50592996,NP_006077
10381	308235963	Disease	p.Glu410Lys	602661.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	No Domain	N/A	NULL
10381	20455526	Disease	p.Glu410Lys	602661.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	437	COG5023	50592996,NP_006077
10381	20455526	Disease	p.Glu410Lys	602661.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	736	cd06059	50592996,NP_006077
10381	20455526	Disease	p.Glu410Lys	602661.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	952	cd02189	50592996,NP_006077
10381	20455526	Disease	p.Glu410Lys	602661.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	421	cd02187	50592996,NP_006077
10381	20455526	Disease	p.Glu410Lys	602661.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	481	cd02190	50592996,NP_006077
10381	20455526	Disease	p.Glu410Lys	602661.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	436	cd02186	50592996,NP_006077
10381	20455526	Disease	p.Glu410Lys	602661.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602661	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	OMIM	513	cd02188	50592996,NP_006077
4982	148743793	Disease	p.Cys87Tyr	602643.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602643	PAGET DISEASE, JUVENILE	OMIM	70	cd00185	NULL
4982	148743793	Disease	p.Cys87Tyr	602643.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602643	PAGET DISEASE, JUVENILE	OMIM	28	smart00208	NULL
4982	148743793	Disease	p.Cys87Tyr	602643.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602643	PAGET DISEASE, JUVENILE	OMIM	28	pfam00020	NULL
4982	148743793	Disease	p.Phe117Leu	602643.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602643	PAGET DISEASE, JUVENILE	OMIM	113	cd00185	NULL
4982	148743793	Disease	p.Phe117Leu	602643.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602643	PAGET DISEASE, JUVENILE	OMIM	18	smart00208	NULL
4982	148743793	Disease	p.Phe117Leu	602643.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602643	PAGET DISEASE, JUVENILE	OMIM	20	pfam00020	NULL
8600	12643360	Disease	p.Met199Lys	602642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602642	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2	OMIM	18	pfam00229	4507595,NP_003692
8600	12643360	Disease	p.Met199Lys	602642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602642	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2	OMIM	20	smart00207	4507595,NP_003692
8600	12643360	Disease	p.Met199Lys	602642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602642	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2	OMIM	55	cd00184	4507595,NP_003692
8600	14790152	Disease	p.Met199Lys	602642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602642	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2	OMIM	119	pfam00229	NULL
8600	14790152	Disease	p.Met199Lys	602642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602642	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2	OMIM	130	smart00207	NULL
8600	14790152	Disease	p.Met199Lys	602642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602642	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2	OMIM	149	cd00184	NULL
7050	28178851	Disease	p.Ser28Cys	602630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	18	smart00389	NULL
7050	28178851	Disease	p.Ser28Cys	602630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	13	cd00086	NULL
7050	28178851	Disease	p.Ser28Cys	602630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	13	pfam00046	NULL
7050	28178855	Disease	p.Ser28Cys	602630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	18	smart00389	NULL
7050	28178855	Disease	p.Ser28Cys	602630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	13	cd00086	NULL
7050	28178855	Disease	p.Ser28Cys	602630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	13	pfam00046	NULL
7050	28178853	Disease	p.Ser28Cys	602630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	18	smart00389	NULL
7050	28178853	Disease	p.Ser28Cys	602630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	13	cd00086	NULL
7050	28178853	Disease	p.Ser28Cys	602630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	13	pfam00046	NULL
7050	215274200	Disease	p.Ser28Cys	602630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	28178843,NP_733796
7050	4507473	Disease	p.Ser28Cys	602630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	28178849	Disease	p.Ser28Cys	602630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	28178857	Disease	p.Ser28Cys	602630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	18	smart00389	NULL
7050	28178857	Disease	p.Ser28Cys	602630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	13	cd00086	NULL
7050	28178857	Disease	p.Ser28Cys	602630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	13	pfam00046	NULL
7050	28178845	Disease	p.Ser28Cys	602630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	28178851	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	85	smart00389	NULL
7050	28178851	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	77	cd00086	NULL
7050	28178851	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	55	pfam00046	NULL
7050	28178855	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	85	smart00389	NULL
7050	28178855	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	77	cd00086	NULL
7050	28178855	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	55	pfam00046	NULL
7050	28178853	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	85	smart00389	NULL
7050	28178853	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	77	cd00086	NULL
7050	28178853	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	55	pfam00046	NULL
7050	215274200	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	28178843,NP_733796
7050	4507473	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	30	pfam00046	NULL
7050	4507473	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	44	smart00389	NULL
7050	4507473	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	36	cd00086	NULL
7050	28178849	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	30	pfam00046	NULL
7050	28178849	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	44	smart00389	NULL
7050	28178849	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	36	cd00086	NULL
7050	28178857	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	85	smart00389	NULL
7050	28178857	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	77	cd00086	NULL
7050	28178857	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	55	pfam00046	NULL
7050	28178845	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	14	pfam00046	NULL
7050	28178845	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	19	smart00389	NULL
7050	28178845	Disease	p.Pro63Arg	602630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	14	cd00086	NULL
7050	28178851	Disease	p.Thr151Ala	602630.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	28178855	Disease	p.Thr151Ala	602630.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	28178853	Disease	p.Thr151Ala	602630.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	215274200	Disease	p.Thr151Ala	602630.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	28178843,NP_733796
7050	4507473	Disease	p.Thr151Ala	602630.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	28178849	Disease	p.Thr151Ala	602630.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	28178857	Disease	p.Thr151Ala	602630.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	28178845	Disease	p.Thr151Ala	602630.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	28178851	Disease	p.Ser162Phe	602630.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	28178855	Disease	p.Ser162Phe	602630.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	28178853	Disease	p.Ser162Phe	602630.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	215274200	Disease	p.Ser162Phe	602630.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	28178843,NP_733796
7050	4507473	Disease	p.Ser162Phe	602630.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	28178849	Disease	p.Ser162Phe	602630.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	28178857	Disease	p.Ser162Phe	602630.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	28178845	Disease	p.Ser162Phe	602630.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	28178851	Disease	p.Gln107Leu	602630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	28178855	Disease	p.Gln107Leu	602630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	28178853	Disease	p.Gln107Leu	602630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	215274200	Disease	p.Gln107Leu	602630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	28178843,NP_733796
7050	4507473	Disease	p.Gln107Leu	602630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	28178849	Disease	p.Gln107Leu	602630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	28178857	Disease	p.Gln107Leu	602630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	No Domain	N/A	NULL
7050	28178845	Disease	p.Gln107Leu	602630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	65	pfam00046	NULL
7050	28178845	Disease	p.Gln107Leu	602630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	95	smart00389	NULL
7050	28178845	Disease	p.Gln107Leu	602630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602630	HOLOPROSENCEPHALY 4	OMIM	87	cd00086	NULL
2304	206729921	Disease	p.Ala65Val	602617.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602617	BAMFORTH-LAZARUS SYNDROME	OMIM	13	cd00059	21618325,NP_004464
2304	206729921	Disease	p.Ala65Val	602617.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602617	BAMFORTH-LAZARUS SYNDROME	OMIM	14	smart00339	21618325,NP_004464
2304	206729921	Disease	p.Ala65Val	602617.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602617	BAMFORTH-LAZARUS SYNDROME	OMIM	34	pfam00250	21618325,NP_004464
2304	206729921	Disease	p.Ser57Asn	602617.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602617	HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE	OMIM	5	cd00059	21618325,NP_004464
2304	206729921	Disease	p.Ser57Asn	602617.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602617	HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE	OMIM	5	smart00339	21618325,NP_004464
2304	206729921	Disease	p.Ser57Asn	602617.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602617	HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE	OMIM	26	pfam00250	21618325,NP_004464
2304	206729921	Disease	p.Arg102Cys	602617.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602617	HYPOTHYROIDISM, THYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE	OMIM	56	cd00059	21618325,NP_004464
2304	206729921	Disease	p.Arg102Cys	602617.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602617	HYPOTHYROIDISM, THYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE	OMIM	77	smart00339	21618325,NP_004464
2304	206729921	Disease	p.Arg102Cys	602617.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602617	HYPOTHYROIDISM, THYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE	OMIM	72	pfam00250	21618325,NP_004464
80168	114150036	Disease	p.Ser290Phe	602616.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602616	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa	OMIM	258	pfam03982	37537527,NP_079374
80168	114150036	Disease	p.Ser290Phe	602616.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602616	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa	OMIM	336	cd07987	37537527,NP_079374
80168	114150036	Disease	p.Ser290Phe	602616.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602616	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa	OMIM	335	cd06551	37537527,NP_079374
80168	114150036	Disease	p.His262Arg	602616.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602616	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa	OMIM	229	pfam03982	37537527,NP_079374
80168	114150036	Disease	p.His262Arg	602616.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602616	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa	OMIM	287	cd07987	37537527,NP_079374
80168	114150036	Disease	p.His262Arg	602616.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602616	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa	OMIM	307	cd06551	37537527,NP_079374
80168	114150036	Disease	p.Asn318Asp	602616.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602616	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa	OMIM	286	pfam03982	37537527,NP_079374
80168	114150036	Disease	p.Asn318Asp	602616.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602616	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa	OMIM	410	cd07987	37537527,NP_079374
9607	2833274	Disease	p.Leu34Phe	602606.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602606	OBESITY, SUSCEPTIBILITY TO	OMIM	38	pfam06373	4757910,NP_004282
79742	193804856	Disease	p.Leu34Phe	602601.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602601	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Leu34Phe	602601.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602601	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
4973	290654342	Disease	p.Lys167Asn	602601.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602601	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
4973	290654344	Disease	p.Lys167Asn	602601.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602601	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
4973	73621335	Disease	p.Lys167Asn	602601.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602601	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	OMIM	7	pfam00059	4505501,NP_002534
4973	73621335	Disease	p.Lys167Asn	602601.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602601	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	OMIM	32	cd00037	4505501,NP_002534
4973	73621335	Disease	p.Lys167Asn	602601.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602601	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	OMIM	68	smart00034	4505501,NP_002534
4973	73621335	Disease	p.Lys167Asn	602601.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602601	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	OMIM	24	cd03594	4505501,NP_002534
4973	73621335	Disease	p.Lys167Asn	602601.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602601	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	OMIM	28	cd03593	4505501,NP_002534
4973	73621335	Disease	p.Lys167Asn	602601.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602601	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	OMIM	29	cd03590	4505501,NP_002534
4973	73621335	Disease	p.Lys167Asn	602601.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602601	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	OMIM	24	cd03597	4505501,NP_002534
7804	259016389	Disease	p.Arg952Gln	602600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602600	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	61744471,NP_004622
7804	65301119	Disease	p.Arg952Gln	602600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602600	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	NULL
7804	66082554	Disease	p.Arg952Gln	602600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602600	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	NULL
7804	61744467	Disease	p.Arg952Gln	602600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602600	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	NULL
3955	58696422	Disease	p.Phe188Leu	602576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602576	SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE	OMIM	307	pfam02434	NULL
3955	261878556	Disease	p.Phe188Leu	602576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602576	SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE	OMIM	220	pfam02434	NULL
3955	27734417	Disease	p.Phe188Leu	602576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602576	SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE	OMIM	96	pfam02434	93140999,NP_001035257
3955	93141005	Disease	p.Phe188Leu	602576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602576	SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE	OMIM	96	pfam02434	NULL
4010	292494915	Disease	p.Asn246Lys	602575.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575	NAIL-PATELLA SYNDROME	OMIM	78	COG5576	NULL
4010	292494915	Disease	p.Asn246Lys	602575.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575	NAIL-PATELLA SYNDROME	OMIM	32	pfam00046	NULL
4010	292494915	Disease	p.Asn246Lys	602575.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575	NAIL-PATELLA SYNDROME	OMIM	38	cd00086	NULL
4010	292494915	Disease	p.Asn246Lys	602575.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575	NAIL-PATELLA SYNDROME	OMIM	46	smart00389	NULL
4010	292494913	Disease	p.Asn246Lys	602575.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575	NAIL-PATELLA SYNDROME	OMIM	78	COG5576	NULL
4010	292494913	Disease	p.Asn246Lys	602575.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575	NAIL-PATELLA SYNDROME	OMIM	32	pfam00046	NULL
4010	292494913	Disease	p.Asn246Lys	602575.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575	NAIL-PATELLA SYNDROME	OMIM	38	cd00086	NULL
4010	292494913	Disease	p.Asn246Lys	602575.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575	NAIL-PATELLA SYNDROME	OMIM	46	smart00389	NULL
4010	292494911	Disease	p.Asn246Lys	602575.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575	NAIL-PATELLA SYNDROME	OMIM	78	COG5576	NULL
4010	292494911	Disease	p.Asn246Lys	602575.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575	NAIL-PATELLA SYNDROME	OMIM	32	pfam00046	NULL
4010	292494911	Disease	p.Asn246Lys	602575.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575	NAIL-PATELLA SYNDROME	OMIM	38	cd00086	NULL
4010	292494911	Disease	p.Asn246Lys	602575.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575	NAIL-PATELLA SYNDROME	OMIM	46	smart00389	NULL
4010	292494915	Disease	p.Cys95Phe	602575.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575	NAIL-PATELLA SYNDROME	OMIM	50	pfam00412	NULL
4010	292494913	Disease	p.Cys95Phe	602575.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575	NAIL-PATELLA SYNDROME	OMIM	50	pfam00412	NULL
4010	292494911	Disease	p.Cys95Phe	602575.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575	NAIL-PATELLA SYNDROME	OMIM	50	pfam00412	NULL
4010	292494915	Disease	p.Arg200Gln	602575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575	NAIL-PATELLA SYNDROME	OMIM	33	COG5576	NULL
4010	292494913	Disease	p.Arg200Gln	602575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575	NAIL-PATELLA SYNDROME	OMIM	33	COG5576	NULL
4010	292494911	Disease	p.Arg200Gln	602575.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602575	NAIL-PATELLA SYNDROME	OMIM	33	COG5576	NULL
7007	134268640	Disease	p.Leu1820Thr	602574.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602574	DEAFNESS, AUTOSOMAL DOMINANT 12	OMIM	30	pfam00100	NULL
7007	134268640	Disease	p.Leu1820Thr	602574.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602574	DEAFNESS, AUTOSOMAL DOMINANT 12	OMIM	19	smart00241	NULL
7007	134268640	Disease	p.Tyr1870Cys	602574.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602574	DEAFNESS, AUTOSOMAL DOMINANT 8	OMIM	209	pfam00100	NULL
7007	134268640	Disease	p.Tyr1870Cys	602574.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602574	DEAFNESS, AUTOSOMAL DOMINANT 8	OMIM	103	smart00241	NULL
7007	134268640	Disease	p.Cys1057Ser	602574.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602574	DEAFNESS, AUTOSOMAL DOMINANT 12	OMIM	No Domain	N/A	NULL
7007	134268640	Disease	p.Cys1619Ser	602574.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602574	DEAFNESS, AUTOSOMAL DOMINANT 12	OMIM	198	pfam00094	NULL
7007	134268640	Disease	p.Cys1619Ser	602574.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602574	DEAFNESS, AUTOSOMAL DOMINANT 12	OMIM	256	smart00216	NULL
7007	134268640	Disease	p.Cys1837Gly	602574.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602574	DEAFNESS, AUTOSOMAL DOMINANT 12	OMIM	92	pfam00100	NULL
7007	134268640	Disease	p.Cys1837Gly	602574.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602574	DEAFNESS, AUTOSOMAL DOMINANT 12	OMIM	47	smart00241	NULL
7007	134268640	Disease	p.Arg2021His	602574.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602574	DEAFNESS, AUTOSOMAL DOMINANT 12	OMIM	586	pfam00100	NULL
7007	134268640	Disease	p.Arg2021His	602574.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602574	DEAFNESS, AUTOSOMAL DOMINANT 12	OMIM	361	smart00241	NULL
7007	134268640	Disease	p.Arg1890Cys	602574.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602574	DEAFNESS, AUTOSOMAL DOMINANT 12	OMIM	261	pfam00100	NULL
7007	134268640	Disease	p.Arg1890Cys	602574.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602574	DEAFNESS, AUTOSOMAL DOMINANT 12	OMIM	164	smart00241	NULL
7007	134268640	Disease	p.Cys1837Arg	602574.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602574	DEAFNESS, AUTOSOMAL DOMINANT 12	OMIM	92	pfam00100	NULL
7007	134268640	Disease	p.Cys1837Arg	602574.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602574	DEAFNESS, AUTOSOMAL DOMINANT 12	OMIM	47	smart00241	NULL
6620	2501105	Disease	p.Val70Met	602569.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602569	DEMENTIA, LEWY BODY	OMIM	81	pfam01387	4507111,NP_003076|48255903,NP_001001502
6620	2501105	Disease	p.Val70Met	602569.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602569	DEMENTIA, LEWY BODY	OMIM	81	pfam01387	4507111,NP_003076|48255903,NP_001001502
6620	2501105	Disease	p.Pro123His	602569.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602569	DEMENTIA, LEWY BODY	OMIM	145	pfam01387	4507111,NP_003076|48255903,NP_001001502
6620	2501105	Disease	p.Pro123His	602569.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602569	DEMENTIA, LEWY BODY	OMIM	145	pfam01387	4507111,NP_003076|48255903,NP_001001502
4552	169790958	Disease	p.Ile22Met	602568.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO||DOWN SYNDROME, SUSCEPTIBILITY TO	OMIM	17	pfam00258	NULL
4552	169790958	Disease	p.Ile22Met	602568.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO||DOWN SYNDROME, SUSCEPTIBILITY TO	OMIM	105	COG0369	NULL
4552	169790958	Disease	p.Ile22Met	602568.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO||DOWN SYNDROME, SUSCEPTIBILITY TO	OMIM	46	COG0716	NULL
4552	296439300	Disease	p.Ile22Met	602568.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO||DOWN SYNDROME, SUSCEPTIBILITY TO	OMIM	24	COG0369	169790956,NP_076915
4552	169790958	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	220	cd06202	NULL
4552	169790958	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	235	pfam00667	NULL
4552	169790958	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	17	cd06208	NULL
4552	169790958	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	291	cd00322	NULL
4552	169790958	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	234	cd06203	NULL
4552	169790958	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	240	cd06199	NULL
4552	169790958	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	288	cd06182	NULL
4552	169790958	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	275	cd06207	NULL
4552	169790958	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	250	cd06204	NULL
4552	169790958	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	591	COG0369	NULL
4552	169790958	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	285	cd06206	NULL
4552	169790958	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	142	cd06200	NULL
4552	169790958	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	157	cd06201	NULL
4552	169790958	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	114	cd06195	NULL
4552	296439300	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	109	cd06201	169790956,NP_076915
4552	296439300	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	228	cd00322	169790956,NP_076915
4552	296439300	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	205	cd06203	169790956,NP_076915
4552	296439300	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	211	cd06199	169790956,NP_076915
4552	296439300	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	226	cd06182	169790956,NP_076915
4552	296439300	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	247	cd06207	169790956,NP_076915
4552	296439300	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	118	cd06200	169790956,NP_076915
4552	296439300	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	193	cd06202	169790956,NP_076915
4552	296439300	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	221	cd06206	169790956,NP_076915
4552	296439300	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	207	pfam00667	169790956,NP_076915
4552	296439300	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	560	COG0369	169790956,NP_076915
4552	296439300	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	76	cd06195	169790956,NP_076915
4552	296439300	Disease	p.Gly487Arg	602568.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	216	cd06204	169790956,NP_076915
4552	169790958	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	187	cd06202	NULL
4552	169790958	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	201	pfam00667	NULL
4552	169790958	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	222	cd00322	NULL
4552	169790958	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	199	cd06203	NULL
4552	169790958	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	205	cd06199	NULL
4552	169790958	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	220	cd06182	NULL
4552	169790958	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	241	cd06207	NULL
4552	169790958	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	210	cd06204	NULL
4552	169790958	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	554	COG0369	NULL
4552	169790958	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	215	cd06206	NULL
4552	169790958	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	114	cd06200	NULL
4552	169790958	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	103	cd06201	NULL
4552	169790958	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	70	cd06195	NULL
4552	296439300	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	46	cd06201	169790956,NP_076915
4552	296439300	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	195	cd00322	169790956,NP_076915
4552	296439300	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	169	cd06203	169790956,NP_076915
4552	296439300	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	169	cd06199	169790956,NP_076915
4552	296439300	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	193	cd06182	169790956,NP_076915
4552	296439300	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	210	cd06207	169790956,NP_076915
4552	296439300	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	21	cd06200	169790956,NP_076915
4552	296439300	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	160	cd06202	169790956,NP_076915
4552	296439300	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	183	cd06206	169790956,NP_076915
4552	296439300	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	173	pfam00667	169790956,NP_076915
4552	296439300	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	523	COG0369	169790956,NP_076915
4552	296439300	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	5	cd06195	169790956,NP_076915
4552	296439300	Disease	p.Ser454Leu	602568.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602568	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	OMIM	167	cd06204	169790956,NP_076915
5071	116242725	Disease	p.Thr240Arg	602544.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	No Domain	N/A	169790969,NP_004553
5071	169790971	Disease	p.Thr240Arg	602544.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	No Domain	N/A	NULL
5071	169790973	Disease	p.Thr240Arg	602544.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	No Domain	N/A	NULL
5071	116242725	Disease	p.Lys161Asn	602544.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	No Domain	N/A	169790969,NP_004553
5071	169790971	Disease	p.Lys161Asn	602544.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	No Domain	N/A	NULL
5071	169790973	Disease	p.Lys161Asn	602544.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	No Domain	N/A	NULL
5071	116242725	Disease	p.Ala82Glu	602544.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	No Domain	N/A	169790969,NP_004553
5071	169790971	Disease	p.Ala82Glu	602544.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	No Domain	N/A	NULL
5071	169790973	Disease	p.Ala82Glu	602544.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	74	cd01803	NULL
5071	169790973	Disease	p.Ala82Glu	602544.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	72	cd01806	NULL
5071	116242725	Disease	p.Cys212Tyr	602544.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	No Domain	N/A	169790969,NP_004553
5071	169790971	Disease	p.Cys212Tyr	602544.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	No Domain	N/A	NULL
5071	169790973	Disease	p.Cys212Tyr	602544.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	128	pfam01485	NULL
5071	169790973	Disease	p.Cys212Tyr	602544.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	151	smart00647	NULL
5071	116242725	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	64	pfam00240	169790969,NP_004553
5071	116242725	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	82	cd01769	169790969,NP_004553
5071	116242725	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	97	cd00196	169790969,NP_004553
5071	116242725	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	60	cd01805	169790969,NP_004553
5071	116242725	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	56	cd01803	169790969,NP_004553
5071	116242725	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	56	cd01806	169790969,NP_004553
5071	116242725	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	65	pfam11976	169790969,NP_004553
5071	116242725	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	60	cd01809	169790969,NP_004553
5071	116242725	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	61	cd01812	169790969,NP_004553
5071	116242725	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	56	cd01808	169790969,NP_004553
5071	116242725	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	86	smart00213	169790969,NP_004553
5071	116242725	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	54	cd01798	169790969,NP_004553
5071	169790971	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	64	pfam00240	NULL
5071	169790971	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	82	cd01769	NULL
5071	169790971	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	97	cd00196	NULL
5071	169790971	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	60	cd01805	NULL
5071	169790971	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	56	cd01803	NULL
5071	169790971	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	56	cd01806	NULL
5071	169790971	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	65	pfam11976	NULL
5071	169790971	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	60	cd01809	NULL
5071	169790971	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	61	cd01812	NULL
5071	169790971	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	56	cd01808	NULL
5071	169790971	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	86	smart00213	NULL
5071	169790971	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	54	cd01798	NULL
5071	169790973	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	64	pfam00240	NULL
5071	169790973	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	82	cd01769	NULL
5071	169790973	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	97	cd00196	NULL
5071	169790973	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	56	cd01803	NULL
5071	169790973	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	56	cd01806	NULL
5071	169790973	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	86	smart00213	NULL
5071	169790973	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	60	cd01809	NULL
5071	169790973	Disease	p.Val56Glu	602544.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	54	cd01798	NULL
5071	116242725	Disease	p.Arg275Trp	602544.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	No Domain	N/A	169790969,NP_004553
5071	169790971	Disease	p.Arg275Trp	602544.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	No Domain	N/A	NULL
5071	169790973	Disease	p.Arg275Trp	602544.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	56	pfam01485	NULL
5071	116242725	Disease	p.Lys211Asn	602544.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	No Domain	N/A	169790969,NP_004553
5071	169790971	Disease	p.Lys211Asn	602544.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	No Domain	N/A	NULL
5071	169790973	Disease	p.Lys211Asn	602544.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	127	pfam01485	NULL
5071	169790973	Disease	p.Lys211Asn	602544.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	150	smart00647	NULL
5071	116242725	Disease	p.Thr240Met	602544.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	No Domain	N/A	169790969,NP_004553
5071	169790971	Disease	p.Thr240Met	602544.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	No Domain	N/A	NULL
5071	169790973	Disease	p.Thr240Met	602544.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602544	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	OMIM	No Domain	N/A	NULL
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	362	cd03141	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	233	cd03135	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	221	cd03137	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	507	cd01653	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	260	cd03139	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	182	cd03140	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	214	pfam01965	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	216	cd03136	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	229	cd03148	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	327	COG0693	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	205	cd03169	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	180	cd03134	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	362	cd03141	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	233	cd03135	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	221	cd03137	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	507	cd01653	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	260	cd03139	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	182	cd03140	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	214	pfam01965	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	216	cd03136	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	229	cd03148	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	327	COG0693	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	205	cd03169	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	602533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	180	cd03134	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	64	cd03128	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	57	cd03141	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	23	cd03135	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	25	cd03137	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	64	cd01653	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	29	cd03139	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	25	cd03140	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	21	cd03136	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	35	cd03148	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	44	COG0693	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	22	cd03169	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	23	cd03134	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	64	cd03128	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	57	cd03141	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	23	cd03135	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	25	cd03137	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	64	cd01653	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	29	cd03139	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	25	cd03140	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	21	cd03136	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	35	cd03148	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	44	COG0693	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	22	cd03169	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	602533.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	23	cd03134	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	345	cd03141	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	211	cd03135	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	197	cd03137	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	490	cd01653	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	234	cd03139	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	166	cd03140	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	185	pfam01965	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	193	cd03136	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	211	cd03148	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	295	COG0693	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	183	cd03169	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	159	cd03134	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	345	cd03141	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	211	cd03135	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	197	cd03137	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	490	cd01653	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	234	cd03139	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	166	cd03140	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	185	pfam01965	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	193	cd03136	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	211	cd03148	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	295	COG0693	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	183	cd03169	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	602533.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	159	cd03134	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	200	cd03128	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	171	cd03141	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	92	cd03135	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	94	cd03137	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	200	cd01653	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	110_G	cd03139	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	77	cd03140	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	49	pfam01965	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	86_G	cd03136	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	91	cd03148	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	144	COG0693	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	81	cd03169	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	70	cd03134	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	200	cd03128	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	171	cd03141	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	92	cd03135	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	94	cd03137	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	200	cd01653	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	110_G	cd03139	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	77	cd03140	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	49	pfam01965	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	86_G	cd03136	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	91	cd03148	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	144	COG0693	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	81	cd03169	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	602533.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	70	cd03134	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	359	cd03141	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	230	cd03135	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	218	cd03137	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	504	cd01653	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	257	cd03139	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	179	cd03140	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	211	pfam01965	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	213	cd03136	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	225	cd03148	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	318	COG0693	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	202	cd03169	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	177	cd03134	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	359	cd03141	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	230	cd03135	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	218	cd03137	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	504	cd01653	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	257	cd03139	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	179	cd03140	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	211	pfam01965	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	213	cd03136	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	225	cd03148	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	318	COG0693	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	202	cd03169	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu163Lys	602533.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	OMIM	177	cd03134	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	116	cd03128	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	80	cd03141	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	48	cd03135	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	66	cd03137	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	116	cd01653	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	66	cd03139	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	44	cd03140	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	8	pfam01965	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	47	cd03136	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	48	cd03148	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	58	COG0693	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	35	cd03169	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	36	cd03134	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	116	cd03128	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	80	cd03141	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	48	cd03135	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	66	cd03137	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	116	cd01653	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	66	cd03139	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	44	cd03140	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	8	pfam01965	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	47	cd03136	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	48	cd03148	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	58	COG0693	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	35	cd03169	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala39Ser	602533.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602533	PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1	OMIM	36	cd03134	31543380,NP_009193|183227678,NP_001116849
7846	55977864	Disease	p.Arg264Cys	602529.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	271	COG5023	17986283,NP_006000
7846	55977864	Disease	p.Arg264Cys	602529.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	665	cd02189	17986283,NP_006000
7846	55977864	Disease	p.Arg264Cys	602529.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	527	cd06059	17986283,NP_006000
7846	55977864	Disease	p.Arg264Cys	602529.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	392	cd00286	17986283,NP_006000
7846	55977864	Disease	p.Arg264Cys	602529.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	17	smart00865	17986283,NP_006000
7846	55977864	Disease	p.Arg264Cys	602529.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	2	pfam03953	17986283,NP_006000
7846	55977864	Disease	p.Arg264Cys	602529.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	270	cd02187	17986283,NP_006000
7846	55977864	Disease	p.Arg264Cys	602529.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	313	cd02188	17986283,NP_006000
7846	55977864	Disease	p.Arg264Cys	602529.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	320	cd02190	17986283,NP_006000
7846	55977864	Disease	p.Arg264Cys	602529.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	275	cd02186	17986283,NP_006000
7846	55977864	Disease	p.Arg402His	602529.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	413	COG5023	17986283,NP_006000
7846	55977864	Disease	p.Arg402His	602529.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	934	cd02189	17986283,NP_006000
7846	55977864	Disease	p.Arg402His	602529.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	714	cd06059	17986283,NP_006000
7846	55977864	Disease	p.Arg402His	602529.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	402	cd02187	17986283,NP_006000
7846	55977864	Disease	p.Arg402His	602529.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	481	cd02188	17986283,NP_006000
7846	55977864	Disease	p.Arg402His	602529.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	462	cd02190	17986283,NP_006000
7846	55977864	Disease	p.Arg402His	602529.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	418	cd02186	17986283,NP_006000
7846	55977864	Disease	p.Ile188Leu	602529.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	303	pfam00091	17986283,NP_006000
7846	55977864	Disease	p.Ile188Leu	602529.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	195	COG5023	17986283,NP_006000
7846	55977864	Disease	p.Ile188Leu	602529.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	295	smart00864	17986283,NP_006000
7846	55977864	Disease	p.Ile188Leu	602529.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	486	cd02189	17986283,NP_006000
7846	55977864	Disease	p.Ile188Leu	602529.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	319	cd06059	17986283,NP_006000
7846	55977864	Disease	p.Ile188Leu	602529.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	279	cd00286	17986283,NP_006000
7846	55977864	Disease	p.Ile188Leu	602529.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	193	cd02187	17986283,NP_006000
7846	55977864	Disease	p.Ile188Leu	602529.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	220	cd02188	17986283,NP_006000
7846	55977864	Disease	p.Ile188Leu	602529.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	208	cd02190	17986283,NP_006000
7846	55977864	Disease	p.Ile188Leu	602529.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	199	cd02186	17986283,NP_006000
7846	55977864	Disease	p.Pro263Thr	602529.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	270	COG5023	17986283,NP_006000
7846	55977864	Disease	p.Pro263Thr	602529.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	664	cd02189	17986283,NP_006000
7846	55977864	Disease	p.Pro263Thr	602529.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	526	cd06059	17986283,NP_006000
7846	55977864	Disease	p.Pro263Thr	602529.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	391	cd00286	17986283,NP_006000
7846	55977864	Disease	p.Pro263Thr	602529.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	16	smart00865	17986283,NP_006000
7846	55977864	Disease	p.Pro263Thr	602529.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	269	cd02187	17986283,NP_006000
7846	55977864	Disease	p.Pro263Thr	602529.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	312	cd02188	17986283,NP_006000
7846	55977864	Disease	p.Pro263Thr	602529.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	319	cd02190	17986283,NP_006000
7846	55977864	Disease	p.Pro263Thr	602529.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	274	cd02186	17986283,NP_006000
7846	55977864	Disease	p.Ser419Leu	602529.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	436	COG5023	17986283,NP_006000
7846	55977864	Disease	p.Ser419Leu	602529.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	951	cd02189	17986283,NP_006000
7846	55977864	Disease	p.Ser419Leu	602529.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	735	cd06059	17986283,NP_006000
7846	55977864	Disease	p.Ser419Leu	602529.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	420	cd02187	17986283,NP_006000
7846	55977864	Disease	p.Ser419Leu	602529.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	512	cd02188	17986283,NP_006000
7846	55977864	Disease	p.Ser419Leu	602529.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	480	cd02190	17986283,NP_006000
7846	55977864	Disease	p.Ser419Leu	602529.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	435	cd02186	17986283,NP_006000
7846	55977864	Disease	p.Leu397Pro	602529.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	408	COG5023	17986283,NP_006000
7846	55977864	Disease	p.Leu397Pro	602529.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	929	cd02189	17986283,NP_006000
7846	55977864	Disease	p.Leu397Pro	602529.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	709	cd06059	17986283,NP_006000
7846	55977864	Disease	p.Leu397Pro	602529.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	397	cd02187	17986283,NP_006000
7846	55977864	Disease	p.Leu397Pro	602529.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	476	cd02188	17986283,NP_006000
7846	55977864	Disease	p.Leu397Pro	602529.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	457	cd02190	17986283,NP_006000
7846	55977864	Disease	p.Leu397Pro	602529.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	413	cd02186	17986283,NP_006000
7846	55977864	Disease	p.Arg422Cys	602529.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	439	COG5023	17986283,NP_006000
7846	55977864	Disease	p.Arg422Cys	602529.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	954	cd02189	17986283,NP_006000
7846	55977864	Disease	p.Arg422Cys	602529.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	738	cd06059	17986283,NP_006000
7846	55977864	Disease	p.Arg422Cys	602529.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	423	cd02187	17986283,NP_006000
7846	55977864	Disease	p.Arg422Cys	602529.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	515	cd02188	17986283,NP_006000
7846	55977864	Disease	p.Arg422Cys	602529.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	483	cd02190	17986283,NP_006000
7846	55977864	Disease	p.Arg422Cys	602529.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	438	cd02186	17986283,NP_006000
7846	55977864	Disease	p.Arg422His	602529.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	439	COG5023	17986283,NP_006000
7846	55977864	Disease	p.Arg422His	602529.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	954	cd02189	17986283,NP_006000
7846	55977864	Disease	p.Arg422His	602529.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	738	cd06059	17986283,NP_006000
7846	55977864	Disease	p.Arg422His	602529.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	423	cd02187	17986283,NP_006000
7846	55977864	Disease	p.Arg422His	602529.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	515	cd02188	17986283,NP_006000
7846	55977864	Disease	p.Arg422His	602529.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	483	cd02190	17986283,NP_006000
7846	55977864	Disease	p.Arg422His	602529.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602529	LISSENCEPHALY 3	OMIM	438	cd02186	17986283,NP_006000
5459	2495302	Disease	p.Leu298Phe	602460.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602460	DEAFNESS, AUTOSOMAL DOMINANT 15	OMIM	35	cd00086	4505965,NP_002691
5459	2495302	Disease	p.Leu298Phe	602460.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602460	DEAFNESS, AUTOSOMAL DOMINANT 15	OMIM	43	smart00389	4505965,NP_002691
5459	2495302	Disease	p.Leu298Phe	602460.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602460	DEAFNESS, AUTOSOMAL DOMINANT 15	OMIM	29	pfam00046	4505965,NP_002691
5459	2495302	Disease	p.Leu223Pro	602460.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602460	DEAFNESS, AUTOSOMAL DOMINANT 15	OMIM	48	pfam00157	4505965,NP_002691
5459	2495302	Disease	p.Leu223Pro	602460.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602460	DEAFNESS, AUTOSOMAL DOMINANT 15	OMIM	45	smart00352	4505965,NP_002691
5445	66529294	Disease	p.Cys311Ser	602447.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602447	PARAOXONASE 2 POLYMORPHISM	OMIM	No Domain	N/A	NULL
5445	66529396	Disease	p.Cys311Ser	602447.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602447	PARAOXONASE 2 POLYMORPHISM	OMIM	No Domain	N/A	NULL
5445	66529294	Disease	p.Ala148Gly	602447.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602447	PARAOXONASE 2 POLYMORPHISM	OMIM	No Domain	N/A	NULL
5445	66529396	Disease	p.Ala148Gly	602447.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602447	PARAOXONASE 2 POLYMORPHISM	OMIM	No Domain	N/A	NULL
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	28	cd02057	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	31	cd02054	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	28	cd02044	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	33	cd00172	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	26	cd02050	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	28	cd02056	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	42	cd02052	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	28	cd02053	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	79	COG4826	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	39	pfam00079	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	28	cd02058	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	30	cd02043	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	28	cd02059	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	39	cd02049	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	33	cd02045	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	27	cd02048	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	34	cd02051	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	104	cd02047	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	30	smart00093	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	28	cd02055	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	30	cd02046	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	28	cd02057	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	31	cd02054	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	28	cd02044	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	33	cd00172	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	26	cd02050	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	28	cd02056	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	42	cd02052	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	28	cd02053	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	79	COG4826	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	39	pfam00079	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	28	cd02058	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	30	cd02043	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	28	cd02059	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	39	cd02049	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	33	cd02045	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	27	cd02048	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	34	cd02051	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	104	cd02047	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	30	smart00093	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	28	cd02055	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	602445.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	30	cd02046	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	31	cd02057	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	34	cd02054	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	31	cd02044	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	36	cd00172	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	29	cd02050	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	31	cd02056	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	45	cd02052	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	31	cd02053	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	82	COG4826	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	42	pfam00079	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	31	cd02058	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	33	cd02043	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	31	cd02059	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	42	cd02049	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	36	cd02045	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	30	cd02048	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	37	cd02051	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	107	cd02047	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	33	smart00093	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	31	cd02055	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	33	cd02046	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	31	cd02057	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	34	cd02054	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	31	cd02044	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	36	cd00172	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	29	cd02050	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	31	cd02056	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	45	cd02052	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	31	cd02053	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	82	COG4826	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	42	pfam00079	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	31	cd02058	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	33	cd02043	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	31	cd02059	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	42	cd02049	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	36	cd02045	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	30	cd02048	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	37	cd02051	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	107	cd02047	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	33	smart00093	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	31	cd02055	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	602445.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	33	cd02046	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	317	cd02057	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	330	cd02054	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	332	cd02044	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	660	cd00172	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	307	cd02050	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	319	cd02056	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	322	cd02052	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	299	cd02053	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	367	COG4826	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	747	pfam00079	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	354	cd02058	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	351	cd02043	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	360	cd02059	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	328	cd02049	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	325	cd02045	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	318	cd02048	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	367	cd02051	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	389	cd02047	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	528	smart00093	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	311	cd02055	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	314	cd02046	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	317	cd02057	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	330	cd02054	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	332	cd02044	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	660	cd00172	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	307	cd02050	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	319	cd02056	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	322	cd02052	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	299	cd02053	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	367	COG4826	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	747	pfam00079	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	354	cd02058	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	351	cd02043	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	360	cd02059	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	328	cd02049	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	325	cd02045	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	318	cd02048	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	367	cd02051	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	389	cd02047	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	528	smart00093	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	311	cd02055	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.His338Arg	602445.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	314	cd02046	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	367	cd02057	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	381	cd02054	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	386	cd02044	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	739	cd00172	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	357	cd02050	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	375	cd02056	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	374	cd02052	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	350	cd02053	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	426	COG4826	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	885	pfam00079	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	408	cd02058	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	411	cd02043	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	415	cd02059	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	386	cd02049	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	380	cd02045	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	372	cd02048	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	419	cd02051	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	441	cd02047	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	648	smart00093	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	363	cd02055	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	365	cd02046	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	367	cd02057	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	381	cd02054	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	386	cd02044	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	739	cd00172	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	357	cd02050	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	375	cd02056	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	374	cd02052	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	350	cd02053	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	426	COG4826	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	885	pfam00079	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	408	cd02058	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	411	cd02043	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	415	cd02059	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	386	cd02049	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	380	cd02045	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	372	cd02048	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	419	cd02051	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	441	cd02047	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	648	smart00093	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	363	cd02055	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Glu	602445.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	365	cd02046	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	367	cd02057	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	381	cd02054	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	386	cd02044	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	739	cd00172	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	357	cd02050	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	375	cd02056	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	374	cd02052	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	350	cd02053	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	426	COG4826	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	885	pfam00079	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	408	cd02058	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	411	cd02043	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	415	cd02059	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	386	cd02049	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	380	cd02045	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	372	cd02048	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	419	cd02051	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	441	cd02047	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	648	smart00093	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	363	cd02055	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	365	cd02046	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	367	cd02057	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	381	cd02054	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	386	cd02044	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	739	cd00172	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	357	cd02050	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	375	cd02056	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	374	cd02052	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	350	cd02053	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	426	COG4826	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	885	pfam00079	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	408	cd02058	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	411	cd02043	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	415	cd02059	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	386	cd02049	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	380	cd02045	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	372	cd02048	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	419	cd02051	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	441	cd02047	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	648	smart00093	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	363	cd02055	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Gly392Arg	602445.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602445	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES	OMIM	365	cd02046	4826904,NP_005016|170295807,NP_001116224
3299	100913211	Disease	p.Leu115Pro	602438.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, LAMELLAR	OMIM	159	smart00415	NULL
3299	100913211	Disease	p.Leu115Pro	602438.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, LAMELLAR	OMIM	297	pfam00447	NULL
3299	100913211	Disease	p.Leu115Pro	602438.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, LAMELLAR	OMIM	151	COG5169	NULL
3299	296434534	Disease	p.Leu115Pro	602438.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, LAMELLAR	OMIM	159	smart00415	100913209,NP_001035757
3299	296434534	Disease	p.Leu115Pro	602438.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, LAMELLAR	OMIM	297	pfam00447	100913209,NP_001035757
3299	296434534	Disease	p.Leu115Pro	602438.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, LAMELLAR	OMIM	151	COG5169	100913209,NP_001035757
3299	100913211	Disease	p.Arg120Cys	602438.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, MARNER TYPE	OMIM	304	pfam00447	NULL
3299	100913211	Disease	p.Arg120Cys	602438.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, MARNER TYPE	OMIM	157	COG5169	NULL
3299	296434534	Disease	p.Arg120Cys	602438.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, MARNER TYPE	OMIM	304	pfam00447	100913209,NP_001035757
3299	296434534	Disease	p.Arg120Cys	602438.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, MARNER TYPE	OMIM	157	COG5169	100913209,NP_001035757
3299	100913211	Disease	p.Ala20Asp	602438.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, LAMELLAR	OMIM	5	smart00415	NULL
3299	100913211	Disease	p.Ala20Asp	602438.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, LAMELLAR	OMIM	2	pfam00447	NULL
3299	100913211	Disease	p.Ala20Asp	602438.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, LAMELLAR	OMIM	13	COG5169	NULL
3299	296434534	Disease	p.Ala20Asp	602438.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, LAMELLAR	OMIM	5	smart00415	100913209,NP_001035757
3299	296434534	Disease	p.Ala20Asp	602438.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, LAMELLAR	OMIM	2	pfam00447	100913209,NP_001035757
3299	296434534	Disease	p.Ala20Asp	602438.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, LAMELLAR	OMIM	13	COG5169	100913209,NP_001035757
3299	100913211	Disease	p.Ile87Val	602438.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, LAMELLAR	OMIM	78	smart00415	NULL
3299	100913211	Disease	p.Ile87Val	602438.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, LAMELLAR	OMIM	177	pfam00447	NULL
3299	100913211	Disease	p.Ile87Val	602438.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, LAMELLAR	OMIM	82	COG5169	NULL
3299	296434534	Disease	p.Ile87Val	602438.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, LAMELLAR	OMIM	78	smart00415	100913209,NP_001035757
3299	296434534	Disease	p.Ile87Val	602438.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, LAMELLAR	OMIM	177	pfam00447	100913209,NP_001035757
3299	296434534	Disease	p.Ile87Val	602438.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602438	CATARACT, LAMELLAR	OMIM	82	COG5169	100913209,NP_001035757
10133	62287118	Disease	p.Glu50Lys	602432.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602432	GLAUCOMA 1, OPEN ANGLE, E	OMIM	14	pfam11577	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
10133	62287118	Disease	p.Glu50Lys	602432.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602432	GLAUCOMA 1, OPEN ANGLE, E	OMIM	14	pfam11577	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
10133	62287118	Disease	p.Glu50Lys	602432.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602432	GLAUCOMA 1, OPEN ANGLE, E	OMIM	14	pfam11577	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
10133	62287118	Disease	p.Glu50Lys	602432.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602432	GLAUCOMA 1, OPEN ANGLE, E	OMIM	14	pfam11577	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
10133	62287118	Disease	p.Arg545Gln	602432.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602432	GLAUCOMA 1, OPEN ANGLE, E	OMIM	No Domain	N/A	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
10133	62287118	Disease	p.Arg545Gln	602432.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602432	GLAUCOMA 1, OPEN ANGLE, E	OMIM	No Domain	N/A	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
10133	62287118	Disease	p.Arg545Gln	602432.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602432	GLAUCOMA 1, OPEN ANGLE, E	OMIM	No Domain	N/A	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
10133	62287118	Disease	p.Arg545Gln	602432.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602432	GLAUCOMA 1, OPEN ANGLE, E	OMIM	No Domain	N/A	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
10133	62287118	Disease	p.Met98Lys	602432.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602432	GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO||GLAUCOMA 1, OPEN ANGLE, E	OMIM	62	pfam11577	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
10133	62287118	Disease	p.Met98Lys	602432.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602432	GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO||GLAUCOMA 1, OPEN ANGLE, E	OMIM	62	pfam11577	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
10133	62287118	Disease	p.Met98Lys	602432.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602432	GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO||GLAUCOMA 1, OPEN ANGLE, E	OMIM	62	pfam11577	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
10133	62287118	Disease	p.Met98Lys	602432.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602432	GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO||GLAUCOMA 1, OPEN ANGLE, E	OMIM	62	pfam11577	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
10133	62287118	Disease	p.Glu478Gly	602432.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602432	AMYOTROPHIC LATERAL SCLEROSIS 12	OMIM	No Domain	N/A	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
10133	62287118	Disease	p.Glu478Gly	602432.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602432	AMYOTROPHIC LATERAL SCLEROSIS 12	OMIM	No Domain	N/A	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
10133	62287118	Disease	p.Glu478Gly	602432.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602432	AMYOTROPHIC LATERAL SCLEROSIS 12	OMIM	No Domain	N/A	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
10133	62287118	Disease	p.Glu478Gly	602432.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602432	AMYOTROPHIC LATERAL SCLEROSIS 12	OMIM	No Domain	N/A	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
6092	49036496	Disease	p.Ile945Thr	602431.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602431	VESICOURETERAL REFLUX 2	OMIM	No Domain	N/A	61888896,NP_002933
6092	193083163	Disease	p.Ile945Thr	602431.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602431	VESICOURETERAL REFLUX 2	OMIM	No Domain	N/A	NULL
6092	49036496	Disease	p.Ala1236Thr	602431.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602431	VESICOURETERAL REFLUX 2	OMIM	No Domain	N/A	61888896,NP_002933
6092	193083163	Disease	p.Ala1236Thr	602431.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602431	VESICOURETERAL REFLUX 2	OMIM	No Domain	N/A	NULL
1080	147744553	Disease	p.Asp110His	602421.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	108	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Asp110His	602421.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg117His	602421.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS||VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	266	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg117His	602421.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS||VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	73	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg347Pro	602421.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	846	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg347Pro	602421.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	376	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1203	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	29	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	32	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	48	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	36	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	54	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	35	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	32	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	67	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	74	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	56	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	30	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	36	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	33	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	40	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	32	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	34	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	54	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	30	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	44	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	39	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	61	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	34	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	42	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	58	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	53	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	72	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	59	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	102	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	64	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	6	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	43	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	59	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	40	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	29	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	67	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	32	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	51	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	36	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	41	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	37	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	39	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	87	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	50	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	32	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	28	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	602421.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	33	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1386	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	131	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	146	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	163	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	252	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	186	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	143	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	138	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	161	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	166	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	415	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	141	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	144	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	139	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	172	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	132	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	136	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	169	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	130	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	179	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	482	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	301	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	157	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	251	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	151	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	201	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	200	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	169	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	168	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	253	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	302	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	249	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	372	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	161	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	195	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	151	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	122	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	181	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	153	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	158	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	140	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	141	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	148	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	177	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	156	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	187	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1271	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	196	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	150	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	134	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	602421.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	143	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1386	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	131	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	146	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	163	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	252	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	186	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	143	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	138	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	161	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	166	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	415	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	141	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	144	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	139	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	172	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	132	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	136	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	169	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	130	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	179	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	482	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	301	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	157	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	251	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	151	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	201	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	200	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	169	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	168	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	253	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	302	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	249	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	372	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	161	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	195	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	151	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	122	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	181	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	153	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	158	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	140	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	141	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	148	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	177	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	156	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	187	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1271	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	196	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	150	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	134	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	602421.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	143	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1386	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	131	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	146	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	163	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	252	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	186	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	143	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	138	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	161	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	166	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	415	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	141	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	144	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	139	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	172	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	132	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	136	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	169	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	130	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	179	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	482	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	301	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	157	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	251	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	151	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	201	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	200	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	169	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	168	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	253	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	302	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	249	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	372	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	161	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	195	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	151	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	122	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	181	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	153	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	158	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	140	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	141	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	148	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	177	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	156	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	187	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1271	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	196	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	150	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	134	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	602421.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	143	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1388	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	133	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	148	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	165	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	254	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	188	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	145	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	140	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	163	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	168	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	417	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	143	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	146	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	141	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	174	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	134	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	138	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	171	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	132	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	181	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	484	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	303	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	159	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	253	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	153	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	203	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	202	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	171	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	170	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	255	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	304	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	251	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	374	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	163	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	197	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	153	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	124	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	183	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	155	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	160	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	142	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	143	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	150	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	179	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	158	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	189	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1273	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	198	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	152	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	136	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	602421.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	145	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1396	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	141	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	156	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	173	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	262	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	196	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	153	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	148	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	171	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	176	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	427	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	151	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	154	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	149	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	182	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	142	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	146	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	179	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	140	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	189	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	492	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	311	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	167	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	263	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	161	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	211	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	210	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	179	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	178	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	263	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	316	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	260	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	382	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	171	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	205	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	161	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	132	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	191	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	163	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	168	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	150	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	151	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	158	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	187	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	166	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	197	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1285	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	206	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	160	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	144	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	602421.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	153	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1397	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	142	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	157	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	174	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	263	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	197	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	154	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	149	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	172	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	177	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	428	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	152	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	155	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	150	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	183	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	143	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	147	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	180	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	141	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	190	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	493	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	312	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	168	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	264	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	162	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	212	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	211	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	180	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	179	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	264	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	317	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	261	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	383	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	172	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	211	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	162	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	133	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	192	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	164	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	169	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	151	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	152	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	159	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	188	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	167	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	198	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1286	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	207	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	161	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	145	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	602421.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	154	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1400	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	145	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	160	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	177	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	266	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	200	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	157	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	152	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	175	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	180	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	431	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	155	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	158	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	153	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	186	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	146	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	150	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	183	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	144	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	193	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	496	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	315	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	171	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	267	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	165	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	215	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	214	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	183	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	182	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	267	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	320	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	264	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	386	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	175	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	214	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	165	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	136	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	195	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	167	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	172	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	154	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	155	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	162	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	191	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	170	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	201	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1289	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	210	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	164	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	148	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	602421.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	157	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1413	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	156	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	171	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	188	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	278	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	211	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	168	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	163	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	186	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	191	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	443	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	166	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	169	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	164	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	203	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	157	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	161	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	196	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	155	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	210	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	513	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	331	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	182	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	281	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	176	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	226	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	225	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	194	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	193	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	278	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	333	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	317	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	397	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	186	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	226	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	176	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	147	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	206	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	178	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	183	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	165	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	166	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	176	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	202	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	181	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	218	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1314	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	222	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	175	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	159	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	602421.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	168	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	1227	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	44	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	47	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	63	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	51	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	69	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	50	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	47	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	82	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	89	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	71	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	45	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	51	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	48	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	55	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	47	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	49	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	69	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	45	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	59	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	57	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	76	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	49	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	6	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	57	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	73	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	68	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	87	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	74	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	117	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	79	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	24	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	62	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	58	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	74	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	55	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	44	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	82	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	47	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	66	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	51	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	56	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	52	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	62	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	54	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	62	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	102	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	65	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	47	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	43	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Met470Val	602421.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	48	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1293	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	92	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	96	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	118	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	91	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	139	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	99	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	97	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	118	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	127	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	127	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	105	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	101	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	96	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	119	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	93	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	97	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	127	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	94	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	125	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	438	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	224	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	97	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	104	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	111	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	149	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	122	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	126	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	129	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	179	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	216	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	84	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	326	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	114	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	143	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	109	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	86	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	147	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	110	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	124_G	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	101	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	101	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	103	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	136	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	107	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	127	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	241	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	118	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	99	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	97	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ile506Val	602421.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	97	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1295	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	94	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	98	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	120	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	93	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	141	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	102	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	104	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	120	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	129	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	129	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	107	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	103	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	98	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	121	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	95	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	99	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	134	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	96	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	127	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	440	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	226	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	100	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	106	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	118	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	151	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	124	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	128	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	131	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	181	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	218	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	86	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	328	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	116	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	145	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	111	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	88	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	149	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	112	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	126	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	103	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	103	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	105	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	138	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	109	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	130	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	243	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	120	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	101	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	99	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Phe508Cys	602421.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	99	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Tyr913Cys	602421.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	38	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Tyr913Cys	602421.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	231	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Tyr913Cys	602421.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	59	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Tyr913Cys	602421.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	272	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Tyr913Cys	602421.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	101	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Tyr913Cys	602421.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	66	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1213	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	32	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	35	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	51	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	39	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	57	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	38	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	35	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	70	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	77	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	59	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	33	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	39	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	36	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	43	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	35	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	37	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	57	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	33	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	42	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	64	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	37	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	45	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	61	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	56	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	75	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	62	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	105	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	67	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	9	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	50	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	62	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	43	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	32	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	70	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	35	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	54	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	39	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	44	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	40	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	50	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	42	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	50	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	90	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	53	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	35	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	31	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	602421.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	36	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	429	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	101	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	109	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	464	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	117	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	119	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	359	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	117	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	593	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	635	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	113	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	117	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	171	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	113	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	99	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	173	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	96	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	122_G	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	126	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	112	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	133	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	93	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	98	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	709	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	215	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	144	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	178	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	93	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	108	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	121	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	98	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	107	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	111	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	95	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	135	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	100	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	91	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	114	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	99	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	141	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	97	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	111	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	146	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	93	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	102	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	117	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	103	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	429_G	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	166	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1292	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	103	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	94	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	124	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	277	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	265	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	105	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	95	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	91	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	96	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	114	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	136	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	90	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	436	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	125	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	120	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	116	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	96	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	109	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	115	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	153	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	96	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	99	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	107	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	129_G	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	120	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	171	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	142	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	240	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	448	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	602421.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	172	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Arg334Trp	602421.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	830	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg334Trp	602421.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	362	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1388	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	133	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	148	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	165	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	254	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	188	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	145	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	140	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	163	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	168	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	417	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	143	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	146	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	141	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	174	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	134	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	138	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	171	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	132	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	181	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	484	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	303	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	159	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	253	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	153	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	203	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	202	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	171	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	170	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	255	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	304	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	251	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	374	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	163	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	197	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	153	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	124	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	183	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	155	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	160	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	142	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	143	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	150	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	179	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	158	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	189	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1273	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	198	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	152	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	136	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	602421.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	145	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Gly85Glu	602421.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	41	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly85Glu	602421.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	5	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1332	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	101	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	112	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	141	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	105	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	153	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	114	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	114_G	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	132	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	140	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	396	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	123	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	124	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	121	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	131	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	108_G	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	118	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	151	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	108	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	139	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	461	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	238	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	112	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	202	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	133	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	168	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	170	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	140	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	150	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	197	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	230	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	220	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	351	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	128	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	172	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	133	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	104	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	163	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	124	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	136_G	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	107	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	110	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	114	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	149	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	137	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	146	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1242	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	127	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	109	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	113	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	602421.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	111	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	417	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	89	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	97	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	452	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	104	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	106	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	347	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	105	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	565	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	623	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	100	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	87	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	136	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	94	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	86	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	161	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	84	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	100	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	108	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	93	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	106	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	86	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	86	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	697	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	202	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	123	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	166	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	81	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	94	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	98	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	86	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	94	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	104	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	83	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	110	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	89	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	82_G	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	102	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	86	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	127	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	84	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	98	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	111	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	80	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	83_G	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	97	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	60	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	418	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	145	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1277	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	90	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	87	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	111	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	254	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	242	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	98	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	82	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	78	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	84	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	101	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	128	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	77	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	422	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	97	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	104	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	103	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	84	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	96	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	85	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	132	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	84	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	87	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	95	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	106	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	106	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	142	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	119	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	228	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	436	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	602421.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	160	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Phe311Leu	602421.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	763	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Phe311Leu	602421.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	329	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1271	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	77	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	82	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	93	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	80	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	122	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	70	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	67	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	104	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	113	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	103	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	91	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	72	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	81	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	83	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	76_G	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	67_G	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	107	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	73	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	109	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	421	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	103	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	83	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	59	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	96	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	133	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	91	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	113	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	98	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	165	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	201	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	63	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	85	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	86	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	127	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	77	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	72	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	128	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	96	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	94	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	80	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	86_G	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	88	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	118	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	91	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	110	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	227	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	103	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	81	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	65	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	602421.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	83	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1397	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	142	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	157	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	174	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	263	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	197	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	154	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	149	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	172	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	177	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	428	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	152	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	155	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	150	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	183	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	143	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	147	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	180	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	141	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	190	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	493	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	312	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	168	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	264	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	162	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	212	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	211	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	180	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	179	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	264	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	317	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	261	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	383	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	172	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	211	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	162	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	133	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	192	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	164	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	169	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	151	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	152	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	159	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	188	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	167	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	198	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1286	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	207	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	161	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	145	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	602421.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	154	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Arg1066His	602421.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	194	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Arg1066His	602421.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	152	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Arg1066His	602421.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	136	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Arg1066His	602421.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	384	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Arg1066His	602421.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	204	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Arg1066His	602421.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	652	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg1066His	602421.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	287	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg1066His	602421.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	223	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Ala1067Thr	602421.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	195	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Ala1067Thr	602421.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	153	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Ala1067Thr	602421.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	137	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Ala1067Thr	602421.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	385	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Ala1067Thr	602421.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	205	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Ala1067Thr	602421.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	653	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ala1067Thr	602421.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	288	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Ala1067Thr	602421.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	224	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Cys	602421.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	194	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Cys	602421.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	152	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Cys	602421.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	136	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Cys	602421.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	384	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Cys	602421.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	204	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Cys	602421.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	652	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Cys	602421.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	287	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Cys	602421.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	223	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	396	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	68	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	76	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	431	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	77	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	81	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	326	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	97	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	537	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	602	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	66	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	67	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	65	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	67	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	65	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	92	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	63	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	63	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	84	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	62	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	76	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	62	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	65	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	87	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	112	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	89	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	136	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	70	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	74	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	62	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	65	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	67	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	82	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	62	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	85	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	60	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	61	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	81	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	62	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	83	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	61	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	70	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	67	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	60	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	66	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	73	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	27	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	397	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	113	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	1250	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	62	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	63	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	78	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	91	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	76	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	68	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	61	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	59	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	63	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	68	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	92	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	58	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	234	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	71	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	75	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	81	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	63	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	69	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	66	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	69	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	63	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	66	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	74	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	72	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	63	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	79	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	83	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	156	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	415	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	602421.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	139	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	1415	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	158	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	173	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	190	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	280	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	213	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	170	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	165	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	188	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	193	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	445	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	168	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	171	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	166	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	205	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	159	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	163	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	198	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	157	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	212	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	515	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	333	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	184	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	178	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	228	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	227	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	196	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	195	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	280	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	335	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	319	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	399	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	189	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	228	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	178	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	149	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	208	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	180	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	185	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	167	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	168	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	178	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	204	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	183	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	220	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	1316	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	224	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	177	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	161	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Gly576Ala	602421.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF	OMIM	170	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	409	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	81	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	89	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	440	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	96	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	98	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	339	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	99	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	555	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	615	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	92	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	75	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	80	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	86	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	77	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	152	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	76	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	84	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	100	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	80	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	98	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	78	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	78	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	145	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	194	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	115	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	158	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	75_G	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	83	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	88	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	78	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	83	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	96	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	75	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	102	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	70	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	76	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	94	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	78	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	119	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	73	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	90	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	103	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	72	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	77	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	86	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	52	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	410	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	129	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1263	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	82	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	79	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	102	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	246	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	228	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	90	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	74	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	70	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	76	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	93	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	106	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	69	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	414	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	89	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	96	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	95	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	76	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	88	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	78	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	124	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	76	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	79	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	87	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	98	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	98	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	134	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	111	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	220	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	428	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	602421.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	152	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Gln359Lys	602421.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	873	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg347Leu	602421.0067	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	846	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg347Leu	602421.0067	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	376	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Ala349Val	602421.0068	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	848	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ala349Val	602421.0068	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	378	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1391	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	136	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	151	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	168	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	257	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	191	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	148	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	143	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	166	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	171	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	422	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	146	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	149	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	144	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	177	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	137	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	141	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	174	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	135	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	184	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	487	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	306_G	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	162	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	256	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	156	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	206	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	205	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	174	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	173	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	258	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	311	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	254	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	377	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	166	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	200	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	156	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	127	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	186	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	158	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	163	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	145	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	146	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	153	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	182	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	161	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	192	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1280	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	201	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	155	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	139	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ala554Glu	602421.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	148	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Glu92Lys	602421.0077	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	48	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Glu92Lys	602421.0077	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	12	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg347His	602421.0078	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	846	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg347His	602421.0078	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	376	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Gly91Arg	602421.0079	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly91Arg	602421.0079	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	412	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	84	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	92	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	443	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	99	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	101	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	342	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	102	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	560	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	618	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	95	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	82	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	116	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	89	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	80	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	156	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	79	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	87	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	103	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	83	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	101	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	81	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	81	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	148	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	197	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	118	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	161	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	76	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	89	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	93	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	81	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	86	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	99	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	78	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	105	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	73	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	79	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	97	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	81	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	122	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	76	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	93	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	106	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	75	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	80	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	89	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	55	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	413	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	132	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1266	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	85	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	82	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	106	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	249	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	237	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	93	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	77	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	73	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	79	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	96	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	123	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	72	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	417	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	92	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	99	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	98	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	79	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	91	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	80_G	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	127	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	79	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	82	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	90	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	101	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	101	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	137	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	114	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	223	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	431	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	602421.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	155	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1239	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	54	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	57	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	73	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	65	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	84	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	60	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	57	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	92	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	99	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	81	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	57	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	61	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	58	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	70	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	57	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	59	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	79	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	55	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	86	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	227	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	90	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	58	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	22	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	67	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	100	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	78	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	97	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	84	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	131	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	107	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	34	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	72	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	72	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	87	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	65	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	56	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	92	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	57	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	76	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	61	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	66	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	62	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	78	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	64	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	74	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	151	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	79	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	57	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	53	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	602421.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	58	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Leu206Trp	602421.0084	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	461	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Leu206Trp	602421.0084	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	199	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Thr338Ile	602421.0087	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	837	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Thr338Ile	602421.0087	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	367	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1393	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	138	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	153	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	170	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	259	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	193	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	150	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	145	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	168	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	173	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	424	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	148	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	151	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	146	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	179	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	139	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	143	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	176	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	137	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	186	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	489	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	308	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	164	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	260	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	158	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	208	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	207	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	176	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	175	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	260	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	313	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	257	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	379	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	168	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	202	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	158	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	129	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	188	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	160	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	165	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	147	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	148	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	155	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	184	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	163	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	194	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1282	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	203	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	157	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	141	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ile556Val	602421.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	150	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Tyr109Cys	602421.0091	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	107	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Tyr109Cys	602421.0091	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg352Gln	602421.0092	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	866	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1336	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	104_G	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	116	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	149	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	109	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	157	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	118	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	116	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	136	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	142_G	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	400	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	127	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	128	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	125	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	145	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	112	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	122	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	155	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	112	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	143	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	465	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	242	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	132	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	206	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	137	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	187	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	173_G	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	144	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	154	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	201	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	234	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	224	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	355	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	132	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	176	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	137	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	108	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	167	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	128	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	136_G	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	111	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	114	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	119	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	153	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	141	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	154	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1246	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	131	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	127	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	117	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Gln524His	602421.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	118	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	602421.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	233	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	602421.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	291	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	602421.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	241	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	602421.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	260	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	602421.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	537	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	602421.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	247	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	602421.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	246	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	602421.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	754	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	602421.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	255	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	602421.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	272	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	602421.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	412	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	602421.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	476	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	602421.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	262	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	602421.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	327	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	602421.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	300	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	602421.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	244	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	602421.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	284	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	602421.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	295	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	602421.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	230_G	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ser912Leu	602421.0100	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	37	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Ser912Leu	602421.0100	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	230	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Ser912Leu	602421.0100	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	58	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Ser912Leu	602421.0100	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	271	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ser912Leu	602421.0100	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	86	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Ser912Leu	602421.0100	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CFTR POLYMORPHISM	OMIM	65	COG4987	90421313,NP_000483
1080	147744553	Disease	p.His949Tyr	602421.0102	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	74	COG4988	90421313,NP_000483
1080	147744553	Disease	p.His949Tyr	602421.0102	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	14	COG5265	90421313,NP_000483
1080	147744553	Disease	p.His949Tyr	602421.0102	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	268	COG2274	90421313,NP_000483
1080	147744553	Disease	p.His949Tyr	602421.0102	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	85	COG4615	90421313,NP_000483
1080	147744553	Disease	p.His949Tyr	602421.0102	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	316	COG1132	90421313,NP_000483
1080	147744553	Disease	p.His949Tyr	602421.0102	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	140	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.His949Tyr	602421.0102	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	105	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Pro	602421.0103	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	193	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Pro	602421.0103	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	151	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Pro	602421.0103	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	135	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Pro	602421.0103	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	383	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Pro	602421.0103	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	203	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Pro	602421.0103	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	651	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Pro	602421.0103	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	286	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Pro	602421.0103	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	222	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Gln1071Pro	602421.0104	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	200	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Gln1071Pro	602421.0104	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	157	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Gln1071Pro	602421.0104	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	141	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Gln1071Pro	602421.0104	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	389	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Gln1071Pro	602421.0104	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	209	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Gln1071Pro	602421.0104	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	657	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gln1071Pro	602421.0104	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	292	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Gln1071Pro	602421.0104	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	227_G	COG4987	90421313,NP_000483
1080	147744553	Disease	p.His1085Arg	602421.0105	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	214	COG4988	90421313,NP_000483
1080	147744553	Disease	p.His1085Arg	602421.0105	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	165_G	COG4618	90421313,NP_000483
1080	147744553	Disease	p.His1085Arg	602421.0105	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	155	COG5265	90421313,NP_000483
1080	147744553	Disease	p.His1085Arg	602421.0105	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	23	COG1123	90421313,NP_000483
1080	147744553	Disease	p.His1085Arg	602421.0105	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	402	COG2274	90421313,NP_000483
1080	147744553	Disease	p.His1085Arg	602421.0105	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	227	COG4615	90421313,NP_000483
1080	147744553	Disease	p.His1085Arg	602421.0105	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	686	COG1132	90421313,NP_000483
1080	147744553	Disease	p.His1085Arg	602421.0105	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	308	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.His1085Arg	602421.0105	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	238	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	344	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	17	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	379	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	18	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	30	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	275_G	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	48_G	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	466	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	550	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	16_G	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	15	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	15_G	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	13_G	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	12	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	12	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	10_G	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	15	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	12	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	10_G	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	10_G	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	10_G	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	10_G	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	10_G	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	10_G	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	15	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	15	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	343	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	62_G	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1072	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	12_G	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	12	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	20	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	12	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	13	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	12	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	10	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	12	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	12	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	12	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	15	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	14	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	15	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	14	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	14	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	13	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	13	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	13_G	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	13	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	12_G	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	13	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	23	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	12_G	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	10	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	10	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	10	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	10	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	364	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Thr1220Ile	602421.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	88	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	358	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	31	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	394	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	34	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	44	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	289	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	60	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	499	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	565	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	29	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	29	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	28	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	27	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	28	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	26	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	26	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	26	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	23	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	29	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	25	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	28	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	48	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	57	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	95	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	29	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	37	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	25	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	28	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	24	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	44	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	25	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	23	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	24	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	44	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	25	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	39	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	23	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	27	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	30	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	23	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	29	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	36	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	360	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	75	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1196	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	25	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	26	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	40	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	40	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	33	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	31	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	24	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	22	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	26	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	31	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	51	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	10	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	32	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	29	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	37	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	39	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	27	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	29	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	26	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	30	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	26	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	29	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	37	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	32	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	25	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	38	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	40	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	56	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	378	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	602421.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	102	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	373	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	16	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	409	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	49	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	59	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	304	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	75	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	514	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	580	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	44	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	45	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	43	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	42	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	43	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	41	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	41	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	41	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	62	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	40	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	51	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	40	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	43	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	63	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	72	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	62	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	110	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	44	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	52	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	40	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	43	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	40	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	59	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	40	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	62	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	38	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	39	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	59	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	40	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	54	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	38	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	42	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	45	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	38	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	44	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	51	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	375	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	90	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1218	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	40	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	41	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	55	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	55	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	48	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	39	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	37	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	41	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	67	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	36	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	50	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	44	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	52	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	54	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	42	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	44	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	41	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	41	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	44	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	52	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	50	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	40	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	54	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	55	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	95	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	393	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	602421.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	117	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	375	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	48	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	18	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	411	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	51	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	61	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	306	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	77	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	516	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	582	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	45	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	44	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	45	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	43	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	43	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	43	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	64	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	42	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	53	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	42	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	45	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	65	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	74	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	64	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	112	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	54	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	42	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	45	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	42	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	61	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	42	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	64	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	40	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	41	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	61	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	42	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	56	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	40	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	44	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	40	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	53	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	377	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	92	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1222	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	42	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	43	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	57	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	57	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	50	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	48	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	41	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	39	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	43	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	48	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	69	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	38	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	52	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	54	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	56	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	44	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	43	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	48	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	43	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	54	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	52	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	42	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	56	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	57	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	97	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	395	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	602421.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	119	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	379	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	52	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	23	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	415	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	55	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	65	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	310	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	81	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	520	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	586	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	50	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	51	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	49	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	48	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	49	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	68	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	57	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	49	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	69	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	78	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	68	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	116	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	50	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	56_G	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	49	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	65	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	68	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	44	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	45	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	65	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	60	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	44	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	48	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	51	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	50	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	57	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	5	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	381	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	96	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1226	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	45_G	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	48	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	61	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	61	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	54	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	50_G	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	45	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	43	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	50_G	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	73	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	45	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	56	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	50	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	58	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	60	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	48	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	50	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	52	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	50	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	58	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	56	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	60	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	61	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	101	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	399	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	602421.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	123	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	429	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	101	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	109	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	464	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	117	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	119	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	359	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	117	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	593	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	635	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	113	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	117	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	171	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	113	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	99	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	173	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	96	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	122_G	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	126	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	112	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	133	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	93	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	98	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	709	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	215	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	144	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	178	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	93	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	108	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	121	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	98	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	107	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	111	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	95	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	135	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	100	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	91	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	114	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	99	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	141	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	97	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	111	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	146	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	93	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	102	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	117	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	103	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	429_G	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	166	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1292	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	103	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	94	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	124	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	277	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	265	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	105	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	95	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	91	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	96	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	114	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	136	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	90	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	436	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	125	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	120	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	116	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	96	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	109	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	115	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	153	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	96	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	99	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	107	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	129_G	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	120	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	171	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	142	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	240	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	448	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	602421.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	172	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1390	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	135	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	150	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	167	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	256	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	190	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	147	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	142	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	165	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	170	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	419	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	145	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	148	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	143	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	176	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	136	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	140	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	173	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	134	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	183	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	486	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	306_G	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	161	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	255	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	155	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	205	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	204	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	173	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	172	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	257	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	310	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	253	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	376	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	165	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	199	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	155	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	126	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	185	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	157	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	162	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	144	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	145	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	152	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	181	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	160	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	191	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1279	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	200	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	154	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	138	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	602421.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	147	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Leu997Phe	602421.0124	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO||HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO	OMIM	128	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Leu997Phe	602421.0124	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO||HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO	OMIM	44	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Leu997Phe	602421.0124	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO||HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO	OMIM	66	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Leu997Phe	602421.0124	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO||HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO	OMIM	316	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Leu997Phe	602421.0124	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO||HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO	OMIM	133	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Leu997Phe	602421.0124	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO||HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO	OMIM	448	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Leu997Phe	602421.0124	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO||HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO	OMIM	198	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Leu997Phe	602421.0124	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO||HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO	OMIM	153	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1193	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	19	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	22	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	24	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	26	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	44	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	25	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	22	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	57	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	64	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	11	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	26	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	23	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	30	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	22	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	24	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	43	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	20	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	34	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	29	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	51	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	24	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	32	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	43	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	62	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	49	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	92	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	54	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	36	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	33	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	48	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	30	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	5	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	57	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	22	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	41	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	26	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	31	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	27	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	37	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	29	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	37	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	53	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	40	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	21	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	18	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ala445Glu	602421.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	23	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	480	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	183	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	252	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	514	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	180	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	167	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	409	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	166	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	685	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	686	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	160	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	161	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	210	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	166	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	144	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	273	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	146	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	159	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	174	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	183	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	176	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	144	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	148	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	751	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	311	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	191	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	258	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	257	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	153	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	158	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	165	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	162	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	163	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	151	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	174	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	136	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	143	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	165	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	148	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	232	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	148	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	173	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	183	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	138	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	155	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	156	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	256	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	470	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	212	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1391	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	149	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	145	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	182	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	416	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	469	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	158	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	142	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	136	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	144	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	174	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	200	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	135	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	487	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	163	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	256	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	230	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	162	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	191	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	143	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	205	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	148	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	149	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	171	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	166	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	163	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	212	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	182	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1280	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	499	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Gln1352His	602421.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	221	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Glu217Gly	602421.0134	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	472	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Glu217Gly	602421.0134	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	213	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	368	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	41	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	9	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	404	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	44	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	54	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	299	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	70	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	509	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	575	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	39	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	40	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	38	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	37	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	38	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	36	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	36	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	36	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	57	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	35	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	35	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	38	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	58	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	67	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	57	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	105	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	39	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	35	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	38	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	35	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	54	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	35	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	57	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	33	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	34	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	54	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	35	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	49	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	33	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	37	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	40	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	33	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	39	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	46	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	370	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	85	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1213	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	35	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	36	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	50	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	50	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	43	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	41	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	34	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	32	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	36	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	41	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	62	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	31	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	42	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	39	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	49	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	37	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	39	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	36	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	41	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	36	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	39	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	47	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	42	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	35	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	49	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	50	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	90	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	388	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Val	602421.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	112	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1398	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	143	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	158	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	175	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	264	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	198	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	155	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	150	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	173	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	178	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	429	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	153	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	156	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	151	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	184	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	144	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	148	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	181	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	142	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	191	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	494	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	313	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	169	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	265	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	163	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	213	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	212	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	181	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	180	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	265	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	318	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	262	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	384	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	173	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	212	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	163	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	134	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	193	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	165	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	170	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	152	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	153	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	160	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	189	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	168	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	199	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	1287	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	208	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	162	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	146	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ala561Glu	602421.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602421	CYSTIC FIBROSIS	OMIM	155	cd03254	90421313,NP_000483
642	3023394	Disease	p.Ile443Val	602403.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602403	BLEOMYCIN HYDROLASE POLYMORPHISM	OMIM	607	cd00585	4557367,NP_000377
642	3023394	Disease	p.Ile443Val	602403.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602403	BLEOMYCIN HYDROLASE POLYMORPHISM	OMIM	445	COG3579	4557367,NP_000377
642	3023394	Disease	p.Ile443Val	602403.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602403	BLEOMYCIN HYDROLASE POLYMORPHISM	OMIM	450	pfam03051	4557367,NP_000377
2303	3024149	Disease	p.Ser125Leu	602402.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602402	LYMPHEDEMA-DISTICHIASIS SYNDROME	OMIM	60	cd00059	4885237,NP_005242
2303	3024149	Disease	p.Ser125Leu	602402.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602402	LYMPHEDEMA-DISTICHIASIS SYNDROME	OMIM	81	smart00339	4885237,NP_005242
2303	3024149	Disease	p.Ser125Leu	602402.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602402	LYMPHEDEMA-DISTICHIASIS SYNDROME	OMIM	76	pfam00250	4885237,NP_005242
2303	3024149	Disease	p.Arg121His	602402.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602402	LYMPHEDEMA-DISTICHIASIS SYNDROME	OMIM	56	cd00059	4885237,NP_005242
2303	3024149	Disease	p.Arg121His	602402.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602402	LYMPHEDEMA-DISTICHIASIS SYNDROME	OMIM	77	smart00339	4885237,NP_005242
2303	3024149	Disease	p.Arg121His	602402.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602402	LYMPHEDEMA-DISTICHIASIS SYNDROME	OMIM	72	pfam00250	4885237,NP_005242
5205	5031697	Disease	p.Gly308Val	602397.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602397	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1	OMIM	446	COG0474	NULL
5205	5031697	Disease	p.Gly308Val	602397.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602397	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1	OMIM	311	pfam00122	NULL
5205	5031697	Disease	p.Gly892Arg	602397.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602397	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1	OMIM	1393	COG0474	NULL
5205	5031697	Disease	p.Leu288Ser	602397.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602397	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1	OMIM	407	COG0474	NULL
5205	5031697	Disease	p.Leu288Ser	602397.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602397	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1	OMIM	257	pfam00122	NULL
5205	5031697	Disease	p.Ile661Thr	602397.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602397	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 1||CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1	OMIM	1164	COG0474	NULL
5205	5031697	Disease	p.Asp554Asn	602397.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602397	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1	OMIM	833	COG0474	NULL
5205	5031697	Disease	p.Asp70Asn	602397.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602397	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	97	COG0474	NULL
5205	5031697	Disease	p.Arg867Cys	602397.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602397	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	1367	COG0474	NULL
5205	5031697	Disease	p.Thr456Met	602397.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602397	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1	OMIM	633	COG0474	NULL
7284	34147630	Disease	p.Arg339Gln	602389.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602389	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4	OMIM	449	COG5258	NULL
7284	34147630	Disease	p.Arg339Gln	602389.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602389	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4	OMIM	105	pfam03144	NULL
7284	34147630	Disease	p.Arg339Gln	602389.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602389	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4	OMIM	95	cd03693	NULL
7284	34147630	Disease	p.Arg339Gln	602389.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602389	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4	OMIM	317	COG2895	NULL
7284	34147630	Disease	p.Arg339Gln	602389.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602389	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4	OMIM	340	COG5257	NULL
7284	34147630	Disease	p.Arg339Gln	602389.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602389	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4	OMIM	91	cd03694	NULL
7284	34147630	Disease	p.Arg339Gln	602389.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602389	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4	OMIM	160	cd01342	NULL
7284	34147630	Disease	p.Arg339Gln	602389.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602389	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4	OMIM	110	cd03695	NULL
7284	34147630	Disease	p.Arg339Gln	602389.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602389	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4	OMIM	86	cd03696	NULL
7284	34147630	Disease	p.Arg339Gln	602389.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602389	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4	OMIM	88	cd03697	NULL
7284	34147630	Disease	p.Arg339Gln	602389.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602389	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4	OMIM	271	COG3276	NULL
7284	34147630	Disease	p.Arg339Gln	602389.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602389	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4	OMIM	374	COG1217	NULL
7284	34147630	Disease	p.Arg339Gln	602389.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602389	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4	OMIM	307	COG0050	NULL
7284	34147630	Disease	p.Arg339Gln	602389.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602389	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4	OMIM	93	cd03698	NULL
7284	34147630	Disease	p.Arg339Gln	602389.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602389	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4	OMIM	382	COG5256	NULL
1785	47117856	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	64	cd00821	56549121,NP_001005360
1785	47117856	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	242	cd00900	56549121,NP_001005360
1785	47117856	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	41	cd01252	56549121,NP_001005360
1785	47117856	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	640	COG0699	56549121,NP_001005360
1785	47117856	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	136	pfam00169	56549121,NP_001005360
1785	47117856	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	197	smart00233	56549121,NP_001005360
1785	47117856	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	39	cd01256	56549121,NP_001005360
1785	56549119	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	43	cd01256	NULL
1785	56549119	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	140	pfam00169	NULL
1785	56549119	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	333	smart00233	NULL
1785	56549119	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	45	cd01252	NULL
1785	56549119	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	155	cd00821	NULL
1785	56549119	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	246	cd00900	NULL
1785	56549119	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	644	COG0699	NULL
1785	56549125	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	43	cd01256	NULL
1785	56549125	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	140	pfam00169	NULL
1785	56549125	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	333	smart00233	NULL
1785	56549125	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	45	cd01252	NULL
1785	56549125	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	155	cd00821	NULL
1785	56549125	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	246	cd00900	NULL
1785	56549125	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	644	COG0699	NULL
1785	299758394	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	64	cd00821	NULL
1785	299758394	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	242	cd00900	NULL
1785	299758394	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	41	cd01252	NULL
1785	299758394	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	640	COG0699	NULL
1785	299758394	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	136	pfam00169	NULL
1785	299758394	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	197	smart00233	NULL
1785	299758394	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	39	cd01256	NULL
1785	56549123	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	64	cd00821	NULL
1785	56549123	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	242	cd00900	NULL
1785	56549123	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	41	cd01252	NULL
1785	56549123	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	640	COG0699	NULL
1785	56549123	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	136	pfam00169	NULL
1785	56549123	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	197	smart00233	NULL
1785	56549123	Disease	p.Lys558Glu	602378.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	OMIM	39	cd01256	NULL
1785	47117856	Disease	p.Arg369Gln	602378.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	181	pfam01031	56549121,NP_001005360
1785	47117856	Disease	p.Arg369Gln	602378.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	369	COG0699	56549121,NP_001005360
1785	56549119	Disease	p.Arg369Gln	602378.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	181	pfam01031	NULL
1785	56549119	Disease	p.Arg369Gln	602378.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	369	COG0699	NULL
1785	56549125	Disease	p.Arg369Gln	602378.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	181	pfam01031	NULL
1785	56549125	Disease	p.Arg369Gln	602378.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	369	COG0699	NULL
1785	299758394	Disease	p.Arg369Gln	602378.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	181	pfam01031	NULL
1785	299758394	Disease	p.Arg369Gln	602378.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	369	COG0699	NULL
1785	56549123	Disease	p.Arg369Gln	602378.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	181	pfam01031	NULL
1785	56549123	Disease	p.Arg369Gln	602378.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	369	COG0699	NULL
1785	47117856	Disease	p.Arg369Trp	602378.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	181	pfam01031	56549121,NP_001005360
1785	47117856	Disease	p.Arg369Trp	602378.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	369	COG0699	56549121,NP_001005360
1785	56549119	Disease	p.Arg369Trp	602378.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	181	pfam01031	NULL
1785	56549119	Disease	p.Arg369Trp	602378.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	369	COG0699	NULL
1785	56549125	Disease	p.Arg369Trp	602378.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	181	pfam01031	NULL
1785	56549125	Disease	p.Arg369Trp	602378.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	369	COG0699	NULL
1785	299758394	Disease	p.Arg369Trp	602378.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	181	pfam01031	NULL
1785	299758394	Disease	p.Arg369Trp	602378.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	369	COG0699	NULL
1785	56549123	Disease	p.Arg369Trp	602378.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	181	pfam01031	NULL
1785	56549123	Disease	p.Arg369Trp	602378.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	369	COG0699	NULL
1785	47117856	Disease	p.Arg465Trp	602378.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	289	pfam01031	56549121,NP_001005360
1785	47117856	Disease	p.Arg465Trp	602378.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	541	COG0699	56549121,NP_001005360
1785	56549119	Disease	p.Arg465Trp	602378.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	289	pfam01031	NULL
1785	56549119	Disease	p.Arg465Trp	602378.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	541	COG0699	NULL
1785	56549125	Disease	p.Arg465Trp	602378.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	289	pfam01031	NULL
1785	56549125	Disease	p.Arg465Trp	602378.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	541	COG0699	NULL
1785	299758394	Disease	p.Arg465Trp	602378.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	289	pfam01031	NULL
1785	299758394	Disease	p.Arg465Trp	602378.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	541	COG0699	NULL
1785	56549123	Disease	p.Arg465Trp	602378.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	289	pfam01031	NULL
1785	56549123	Disease	p.Arg465Trp	602378.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	541	COG0699	NULL
1785	47117856	Disease	p.Glu368Lys	602378.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	180	pfam01031	56549121,NP_001005360
1785	47117856	Disease	p.Glu368Lys	602378.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	368	COG0699	56549121,NP_001005360
1785	56549119	Disease	p.Glu368Lys	602378.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	180	pfam01031	NULL
1785	56549119	Disease	p.Glu368Lys	602378.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	368	COG0699	NULL
1785	56549125	Disease	p.Glu368Lys	602378.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	180	pfam01031	NULL
1785	56549125	Disease	p.Glu368Lys	602378.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	368	COG0699	NULL
1785	299758394	Disease	p.Glu368Lys	602378.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	180	pfam01031	NULL
1785	299758394	Disease	p.Glu368Lys	602378.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	368	COG0699	NULL
1785	56549123	Disease	p.Glu368Lys	602378.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	180	pfam01031	NULL
1785	56549123	Disease	p.Glu368Lys	602378.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT	OMIM	368	COG0699	NULL
1785	47117856	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	12	cd00821	56549121,NP_001005360
1785	47117856	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	12	cd00900	56549121,NP_001005360
1785	47117856	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	13	cd01252	56549121,NP_001005360
1785	47117856	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	615	COG0699	56549121,NP_001005360
1785	47117856	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	36	pfam00169	56549121,NP_001005360
1785	47117856	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	40	smart00233	56549121,NP_001005360
1785	47117856	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	14	cd01256	56549121,NP_001005360
1785	56549119	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	18	cd01256	NULL
1785	56549119	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	40	pfam00169	NULL
1785	56549119	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	95	smart00233	NULL
1785	56549119	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	17	cd01252	NULL
1785	56549119	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	34	cd00821	NULL
1785	56549119	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	213	cd00900	NULL
1785	56549119	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	619	COG0699	NULL
1785	56549125	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	18	cd01256	NULL
1785	56549125	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	40	pfam00169	NULL
1785	56549125	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	95	smart00233	NULL
1785	56549125	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	17	cd01252	NULL
1785	56549125	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	34	cd00821	NULL
1785	56549125	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	213	cd00900	NULL
1785	56549125	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	619	COG0699	NULL
1785	299758394	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	12	cd00821	NULL
1785	299758394	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	12	cd00900	NULL
1785	299758394	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	13	cd01252	NULL
1785	299758394	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	615	COG0699	NULL
1785	299758394	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	36	pfam00169	NULL
1785	299758394	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	40	smart00233	NULL
1785	299758394	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	14	cd01256	NULL
1785	56549123	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	12	cd00821	NULL
1785	56549123	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	12	cd00900	NULL
1785	56549123	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	13	cd01252	NULL
1785	56549123	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	615	COG0699	NULL
1785	56549123	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	36	pfam00169	NULL
1785	56549123	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	40	smart00233	NULL
1785	56549123	Disease	p.Gly533Cys	602378.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	14	cd01256	NULL
1785	47117856	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	160	cd00821	56549121,NP_001005360
1785	47117856	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	270	cd00900	56549121,NP_001005360
1785	47117856	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	49	cd01252	56549121,NP_001005360
1785	47117856	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	648	COG0699	56549121,NP_001005360
1785	47117856	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	144	pfam00169	56549121,NP_001005360
1785	47117856	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	344	smart00233	56549121,NP_001005360
1785	47117856	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	47	cd01256	56549121,NP_001005360
1785	56549119	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	51	cd01256	NULL
1785	56549119	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	148	pfam00169	NULL
1785	56549119	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	357	smart00233	NULL
1785	56549119	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	53	cd01252	NULL
1785	56549119	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	172	cd00821	NULL
1785	56549119	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	274	cd00900	NULL
1785	56549119	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	652	COG0699	NULL
1785	56549125	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	51	cd01256	NULL
1785	56549125	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	148	pfam00169	NULL
1785	56549125	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	357	smart00233	NULL
1785	56549125	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	53	cd01252	NULL
1785	56549125	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	172	cd00821	NULL
1785	56549125	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	274	cd00900	NULL
1785	56549125	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	652	COG0699	NULL
1785	299758394	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	160	cd00821	NULL
1785	299758394	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	270	cd00900	NULL
1785	299758394	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	49	cd01252	NULL
1785	299758394	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	648	COG0699	NULL
1785	299758394	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	144	pfam00169	NULL
1785	299758394	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	344	smart00233	NULL
1785	299758394	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	47	cd01256	NULL
1785	56549123	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	160	cd00821	NULL
1785	56549123	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	270	cd00900	NULL
1785	56549123	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	49	cd01252	NULL
1785	56549123	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	648	COG0699	NULL
1785	56549123	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	144	pfam00169	NULL
1785	56549123	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	344	smart00233	NULL
1785	56549123	Disease	p.Leu566His	602378.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	47	cd01256	NULL
1785	47117856	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	413	cd00821	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	463	cd00900	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	118	cd01252	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	706	COG0699	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	291	pfam00169	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	923	smart00233	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	102	cd01256	56549121,NP_001005360
1785	56549119	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	106	cd01256	NULL
1785	56549119	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	295	pfam00169	NULL
1785	56549119	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	927	smart00233	NULL
1785	56549119	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	122	cd01252	NULL
1785	56549119	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	710	COG0699	NULL
1785	56549125	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	106	cd01256	NULL
1785	56549125	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	295	pfam00169	NULL
1785	56549125	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	927	smart00233	NULL
1785	56549125	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	122	cd01252	NULL
1785	56549125	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	710	COG0699	NULL
1785	299758394	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	413	cd00821	NULL
1785	299758394	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	463	cd00900	NULL
1785	299758394	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	118	cd01252	NULL
1785	299758394	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	706	COG0699	NULL
1785	299758394	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	291	pfam00169	NULL
1785	299758394	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	923	smart00233	NULL
1785	299758394	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	102	cd01256	NULL
1785	56549123	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	413	cd00821	NULL
1785	56549123	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	463	cd00900	NULL
1785	56549123	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	118	cd01252	NULL
1785	56549123	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	706	COG0699	NULL
1785	56549123	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	291	pfam00169	NULL
1785	56549123	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	923	smart00233	NULL
1785	56549123	Disease	p.Ser619Leu	602378.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	102	cd01256	NULL
1785	47117856	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	413	cd00821	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	463	cd00900	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	118	cd01252	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	706	COG0699	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	291	pfam00169	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	923	smart00233	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	102	cd01256	56549121,NP_001005360
1785	56549119	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	106	cd01256	NULL
1785	56549119	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	295	pfam00169	NULL
1785	56549119	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	927	smart00233	NULL
1785	56549119	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	122	cd01252	NULL
1785	56549119	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	710	COG0699	NULL
1785	56549125	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	106	cd01256	NULL
1785	56549125	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	295	pfam00169	NULL
1785	56549125	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	927	smart00233	NULL
1785	56549125	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	122	cd01252	NULL
1785	56549125	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	710	COG0699	NULL
1785	299758394	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	413	cd00821	NULL
1785	299758394	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	463	cd00900	NULL
1785	299758394	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	118	cd01252	NULL
1785	299758394	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	706	COG0699	NULL
1785	299758394	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	291	pfam00169	NULL
1785	299758394	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	923	smart00233	NULL
1785	299758394	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	102	cd01256	NULL
1785	56549123	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	413	cd00821	NULL
1785	56549123	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	463	cd00900	NULL
1785	56549123	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	118	cd01252	NULL
1785	56549123	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	706	COG0699	NULL
1785	56549123	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	291	pfam00169	NULL
1785	56549123	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	923	smart00233	NULL
1785	56549123	Disease	p.Ser619Trp	602378.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	MYOPATHY, CENTRONUCLEAR	OMIM	102	cd01256	NULL
1785	47117856	Disease	p.Gly358Arg	602378.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	170	pfam01031	56549121,NP_001005360
1785	47117856	Disease	p.Gly358Arg	602378.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	358	COG0699	56549121,NP_001005360
1785	56549119	Disease	p.Gly358Arg	602378.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	170	pfam01031	NULL
1785	56549119	Disease	p.Gly358Arg	602378.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	358	COG0699	NULL
1785	56549125	Disease	p.Gly358Arg	602378.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	170	pfam01031	NULL
1785	56549125	Disease	p.Gly358Arg	602378.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	358	COG0699	NULL
1785	299758394	Disease	p.Gly358Arg	602378.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	170	pfam01031	NULL
1785	299758394	Disease	p.Gly358Arg	602378.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	358	COG0699	NULL
1785	56549123	Disease	p.Gly358Arg	602378.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	170	pfam01031	NULL
1785	56549123	Disease	p.Gly358Arg	602378.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602378	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M	OMIM	358	COG0699	NULL
3455	19923129	Disease	p.Ser8Phe	602376.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602376	HEPATITIS B VIRUS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
3455	46488935	Disease	p.Ser8Phe	602376.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602376	HEPATITIS B VIRUS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
3455	1352466	Disease	p.Ser8Phe	602376.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602376	HEPATITIS B VIRUS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	46488937,NP_997468
1075	22538440	Disease	p.Gln252Leu	602365.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	No Domain	N/A	NULL
1075	1705632	Disease	p.Gln252Leu	602365.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	24	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Gln252Leu	602365.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	33	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Gln252Leu	602365.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	22	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Gln252Leu	602365.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	24	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Gln252Leu	602365.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	22	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Gln252Leu	602365.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	35	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Gln252Leu	602365.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	23	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Gln252Leu	602365.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	162	COG4870	189083844,NP_001805
1075	167000671	Disease	p.Gln252Leu	602365.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	No Domain	N/A	NULL
1075	22538440	Disease	p.Gln286Arg	602365.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	HAIM-MUNK SYNDROME	OMIM	No Domain	N/A	NULL
1075	1705632	Disease	p.Gln286Arg	602365.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	HAIM-MUNK SYNDROME	OMIM	64	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	602365.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	HAIM-MUNK SYNDROME	OMIM	98	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	602365.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	HAIM-MUNK SYNDROME	OMIM	61	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	602365.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	HAIM-MUNK SYNDROME	OMIM	67	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	602365.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	HAIM-MUNK SYNDROME	OMIM	73	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	602365.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	HAIM-MUNK SYNDROME	OMIM	132	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	602365.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	HAIM-MUNK SYNDROME	OMIM	58	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	602365.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	HAIM-MUNK SYNDROME	OMIM	195	COG4870	189083844,NP_001805
1075	167000671	Disease	p.Gln286Arg	602365.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	HAIM-MUNK SYNDROME	OMIM	No Domain	N/A	NULL
1075	22538440	Disease	p.Trp39Ser	602365.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	15	pfam08773	NULL
1075	1705632	Disease	p.Trp39Ser	602365.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	15	pfam08773	189083844,NP_001805
1075	167000671	Disease	p.Trp39Ser	602365.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	15	pfam08773	NULL
1075	22538440	Disease	p.Gly301Ser	602365.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	No Domain	N/A	NULL
1075	1705632	Disease	p.Gly301Ser	602365.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	93	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Gly301Ser	602365.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	136	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Gly301Ser	602365.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	77	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Gly301Ser	602365.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	82	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Gly301Ser	602365.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	116	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Gly301Ser	602365.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	157	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Gly301Ser	602365.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	82	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Gly301Ser	602365.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	207	COG4870	189083844,NP_001805
1075	167000671	Disease	p.Gly301Ser	602365.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	No Domain	N/A	NULL
1075	22538440	Disease	p.Trp429Cys	602365.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	No Domain	N/A	NULL
1075	1705632	Disease	p.Trp429Cys	602365.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	324	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Trp429Cys	602365.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	614	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Trp429Cys	602365.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	235	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Trp429Cys	602365.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	318	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Trp429Cys	602365.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	498	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Trp429Cys	602365.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	511	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Trp429Cys	602365.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	294	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Trp429Cys	602365.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	351	COG4870	189083844,NP_001805
1075	167000671	Disease	p.Trp429Cys	602365.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	No Domain	N/A	NULL
1075	22538440	Disease	p.His127Pro	602365.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	No Domain	N/A	NULL
1075	1705632	Disease	p.His127Pro	602365.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	106	pfam08773	189083844,NP_001805
1075	1705632	Disease	p.His127Pro	602365.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	6	COG4870	189083844,NP_001805
1075	167000671	Disease	p.His127Pro	602365.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PAPILLON-LEFEVRE SYNDROME	OMIM	No Domain	N/A	NULL
1075	22538440	Disease	p.Tyr412Cys	602365.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PERIODONTITIS, AGGRESSIVE, 1	OMIM	No Domain	N/A	NULL
1075	1705632	Disease	p.Tyr412Cys	602365.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PERIODONTITIS, AGGRESSIVE, 1	OMIM	272	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Tyr412Cys	602365.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PERIODONTITIS, AGGRESSIVE, 1	OMIM	369	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Tyr412Cys	602365.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PERIODONTITIS, AGGRESSIVE, 1	OMIM	215	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Tyr412Cys	602365.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PERIODONTITIS, AGGRESSIVE, 1	OMIM	282	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Tyr412Cys	602365.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PERIODONTITIS, AGGRESSIVE, 1	OMIM	443	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Tyr412Cys	602365.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PERIODONTITIS, AGGRESSIVE, 1	OMIM	459	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Tyr412Cys	602365.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PERIODONTITIS, AGGRESSIVE, 1	OMIM	274	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Tyr412Cys	602365.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PERIODONTITIS, AGGRESSIVE, 1	OMIM	326	COG4870	189083844,NP_001805
1075	167000671	Disease	p.Tyr412Cys	602365.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PERIODONTITIS, AGGRESSIVE, 1	OMIM	No Domain	N/A	NULL
1075	22538440	Disease	p.Tyr347Cys	602365.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PERIODONTITIS, AGGRESSIVE, 1	OMIM	No Domain	N/A	NULL
1075	1705632	Disease	p.Tyr347Cys	602365.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PERIODONTITIS, AGGRESSIVE, 1	OMIM	178	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	602365.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PERIODONTITIS, AGGRESSIVE, 1	OMIM	211	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	602365.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PERIODONTITIS, AGGRESSIVE, 1	OMIM	160	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	602365.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PERIODONTITIS, AGGRESSIVE, 1	OMIM	189	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	602365.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PERIODONTITIS, AGGRESSIVE, 1	OMIM	264	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	602365.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PERIODONTITIS, AGGRESSIVE, 1	OMIM	334	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	602365.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PERIODONTITIS, AGGRESSIVE, 1	OMIM	171	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	602365.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PERIODONTITIS, AGGRESSIVE, 1	OMIM	262	COG4870	189083844,NP_001805
1075	167000671	Disease	p.Tyr347Cys	602365.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602365	PERIODONTITIS, AGGRESSIVE, 1	OMIM	No Domain	N/A	NULL
3060	6225800	Disease	p.Leu16Arg	602358.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602358	NARCOLEPSY	OMIM	16	pfam02072	4557635,NP_001515
6095	19743903	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
6095	4506577	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	94	cd06968	NULL
6095	4506577	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	96	cd07170	NULL
6095	4506577	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	93	cd07167	NULL
6095	4506577	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	85	cd06966	NULL
6095	4506577	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	85	cd07162	NULL
6095	4506577	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	95	cd06955	NULL
6095	548814	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	86	cd06968	19743901,NP_599022
6095	548814	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	84	cd06967	19743901,NP_599022
6095	548814	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	77	cd06966	19743901,NP_599022
6095	548814	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	82	cd06962	19743901,NP_599022
6095	548814	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	80	cd06957	19743901,NP_599022
6095	548814	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	79	cd07165	19743901,NP_599022
6095	548814	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	84	cd07167	19743901,NP_599022
6095	548814	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	88	cd07161	19743901,NP_599022
6095	548814	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	77	cd07162	19743901,NP_599022
6095	548814	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	88	cd07170	19743901,NP_599022
6095	548814	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	86	cd06961	19743901,NP_599022
6095	548814	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	84	cd06965	19743901,NP_599022
6095	548814	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	91	cd07157	19743901,NP_599022
6095	548814	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	87	cd06955	19743901,NP_599022
6095	548814	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	88	cd06970	19743901,NP_599022
6095	548814	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	88	cd07168	19743901,NP_599022
6095	548814	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	93	cd07163	19743901,NP_599022
6095	548814	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	87	cd07169	19743901,NP_599022
6095	548814	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	85	cd07166	19743901,NP_599022
6095	548814	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	101	cd07160	19743901,NP_599022
6095	19743905	Disease	p.Arg184Cys	602337.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602337	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE	OMIM	30	cd06933	NULL
181	2810995	Disease	p.Ala67Thr	602311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602311	OBESITY, LATE-ONSET||LEANNESS, INHERITED	OMIM	89	smart00792	4501995,NP_001129
181	2810995	Disease	p.Ala67Thr	602311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602311	OBESITY, LATE-ONSET||LEANNESS, INHERITED	OMIM	89	pfam05039	4501995,NP_001129
55806	22547207	Disease	p.Thr1022Ala	602302.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602302	ALOPECIA UNIVERSALIS CONGENITA	OMIM	No Domain	N/A	NULL
55806	115502396	Disease	p.Thr1022Ala	602302.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602302	ALOPECIA UNIVERSALIS CONGENITA	OMIM	No Domain	N/A	22547204,NP_005135
55806	22547207	Disease	p.Val1136Asp	602302.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602302	ALOPECIA UNIVERSALIS CONGENITA	OMIM	No Domain	N/A	NULL
55806	115502396	Disease	p.Val1136Asp	602302.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602302	ALOPECIA UNIVERSALIS CONGENITA	OMIM	130	pfam02373	22547204,NP_005135
55806	22547207	Disease	p.Asp1012Asn	602302.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602302	ALOPECIA UNIVERSALIS CONGENITA	OMIM	98	smart00558	NULL
55806	115502396	Disease	p.Asp1012Asn	602302.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602302	ALOPECIA UNIVERSALIS CONGENITA	OMIM	98	smart00558	22547204,NP_005135
55806	22547207	Disease	p.Pro25Ala	602302.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602302	HYPOTRICHOSIS, MARIE UNNA TYPE	OMIM	No Domain	N/A	NULL
55806	115502396	Disease	p.Pro25Ala	602302.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602302	HYPOTRICHOSIS, MARIE UNNA TYPE	OMIM	No Domain	N/A	22547204,NP_005135
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	128	cd01868	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	121	cd01867	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	120	cd01875	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	146	smart00174	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	129	cd04111	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	120	cd04145	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	234	cd00157	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	155	cd04125	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	149	smart00173	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	161	smart00175	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	120	cd04122	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	122	cd01869	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	135	cd00877	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	175	cd04102	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	122	cd04108	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	133	cd04109	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	133	cd04143	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	131	cd04142	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	113	cd04126	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	196	cd04107	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	120	cd04118	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	120	cd04132	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	207	cd04112	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	119	cd04120	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	117_G	cd04124	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	129	cd04123	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	123	cd04101	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	124	cd04115	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	211	cd04119	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	123	cd01862	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	318	cd00154	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	143	cd04130	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	118	cd04135	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	290	smart00010	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	145	cd04139	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	133	cd04127	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	122	cd04113	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	115	cd04103	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	118	cd04117	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	119	cd04106	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	129	cd01861	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	135	cd01863	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	168	cd01864	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	119	cd04128	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	112	smart00176	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	120	cd04177	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	118	cd01871	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	120	cd04141	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	119	cd04129	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	119	cd04138	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	122	cd04140	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	124	cd04136	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	166	cd01860	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	124	cd04176	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	118	cd01874	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	119	cd01865	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	129	cd04131	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	119	cd04175	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	120	cd04133	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	136	cd04153	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	154	COG2229	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	125	cd04114	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	139	cd04155	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	144	pfam00025	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	144	cd04154	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	127	cd04116	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	133	cd04172	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	304	COG1100	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	520	cd00882	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	187	cd04159	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	126	cd04157	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	161	cd04160	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	191	cd00878	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	118	cd04147	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	118	cd04134	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	152	cd04144	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	125	cd04137	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	118	cd01870	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	182	cd04146	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	115	cd04162	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	143	pfam00071	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	171	cd00876	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	123	cd01866	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	123	cd04110	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	128	cd01868	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	121	cd01867	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	120	cd01875	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	146	smart00174	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	129	cd04111	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	120	cd04145	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	234	cd00157	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	155	cd04125	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	149	smart00173	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	161	smart00175	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	120	cd04122	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	122	cd01869	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	135	cd00877	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	175	cd04102	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	122	cd04108	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	133	cd04109	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	133	cd04143	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	131	cd04142	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	113	cd04126	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	196	cd04107	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	120	cd04118	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	120	cd04132	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	207	cd04112	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	119	cd04120	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	117_G	cd04124	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	129	cd04123	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	123	cd04101	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	124	cd04115	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	211	cd04119	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	123	cd01862	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	318	cd00154	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	143	cd04130	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	118	cd04135	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	290	smart00010	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	145	cd04139	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	133	cd04127	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	122	cd04113	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	115	cd04103	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	118	cd04117	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	119	cd04106	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	129	cd01861	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	135	cd01863	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	168	cd01864	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	119	cd04128	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	112	smart00176	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	120	cd04177	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	118	cd01871	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	120	cd04141	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	119	cd04129	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	119	cd04138	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	122	cd04140	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	124	cd04136	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	166	cd01860	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	124	cd04176	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	118	cd01874	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	119	cd01865	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	129	cd04131	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	119	cd04175	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	120	cd04133	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	136	cd04153	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	154	COG2229	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	125	cd04114	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	139	cd04155	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	144	pfam00025	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	144	cd04154	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	127	cd04116	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	133	cd04172	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	304	COG1100	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	520	cd00882	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	187	cd04159	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	126	cd04157	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	161	cd04160	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	191	cd00878	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	118	cd04147	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	118	cd04134	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	152	cd04144	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	125	cd04137	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	118	cd01870	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	182	cd04146	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	115	cd04162	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	143	pfam00071	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	171	cd00876	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	123	cd01866	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Leu129Phe	602298.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	123	cd04110	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	171	cd01868	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	156	cd01867	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	167	cd01875	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	230	smart00174	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	169	cd04111	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	155	cd04145	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	311	cd00157	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	196	cd04125	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	189	smart00173	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	227	smart00175	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	154	cd04122	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	156	cd01869	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	169	cd00877	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	223	cd04102	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	195	cd04108	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	168	cd04109	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	170	cd04143	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	165	cd04142	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	208	cd04126	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	260	cd04107	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	156	cd04118	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	224	cd04132	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	242	cd04112	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	153	cd04120	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	149	cd04124	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	164	cd04123	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	157	cd04101	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	184	cd04115	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	257	cd04119	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	180	cd01862	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	413	cd00154	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	191	cd04130	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	173	cd04135	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	372	smart00010	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	180	cd04139	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	167	cd04127	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	214	cd04113	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	152	cd04103	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	155	cd04117	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	153	cd04106	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	168	cd01861	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	179	cd01863	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	231	cd01864	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	159	cd04128	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	144	smart00176	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	154	cd04177	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	148	cd01871	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	155	cd04141	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	166	cd04129	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	154	cd04138	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	157	cd04140	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	161	cd04136	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	255	cd01860	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	160	cd04176	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	148	cd01874	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	153	cd01865	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	165	cd04131	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	154	cd04175	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	165	cd04133	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	177	cd04153	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	196	COG2229	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	160	cd04114	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	194	pfam00025	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	207	cd04154	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	163	cd04116	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	169	cd04172	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	422	COG1100	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	755	cd00882	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	306	cd04159	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	164	cd04157	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	249	cd04160	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	296	cd00878	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	157	cd04147	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	186	cd04134	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	185	cd04144	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	171	cd04137	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	166	cd01870	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	222	cd04146	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	166	cd04162	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	218	pfam00071	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	240	cd00876	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	157	cd01866	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	158	cd04110	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	171	cd01868	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	156	cd01867	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	167	cd01875	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	230	smart00174	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	169	cd04111	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	155	cd04145	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	311	cd00157	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	196	cd04125	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	189	smart00173	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	227	smart00175	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	154	cd04122	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	156	cd01869	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	169	cd00877	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	223	cd04102	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	195	cd04108	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	168	cd04109	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	170	cd04143	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	165	cd04142	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	208	cd04126	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	260	cd04107	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	156	cd04118	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	224	cd04132	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	242	cd04112	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	153	cd04120	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	149	cd04124	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	164	cd04123	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	157	cd04101	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	184	cd04115	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	257	cd04119	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	180	cd01862	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	413	cd00154	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	191	cd04130	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	173	cd04135	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	372	smart00010	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	180	cd04139	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	167	cd04127	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	214	cd04113	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	152	cd04103	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	155	cd04117	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	153	cd04106	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	168	cd01861	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	179	cd01863	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	231	cd01864	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	159	cd04128	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	144	smart00176	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	154	cd04177	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	148	cd01871	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	155	cd04141	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	166	cd04129	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	154	cd04138	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	157	cd04140	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	161	cd04136	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	255	cd01860	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	160	cd04176	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	148	cd01874	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	153	cd01865	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	165	cd04131	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	154	cd04175	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	165	cd04133	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	177	cd04153	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	196	COG2229	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	160	cd04114	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	194	pfam00025	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	207	cd04154	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	163	cd04116	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	169	cd04172	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	422	COG1100	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	755	cd00882	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	306	cd04159	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	164	cd04157	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	249	cd04160	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	296	cd00878	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	157	cd04147	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	186	cd04134	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	185	cd04144	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	171	cd04137	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	166	cd01870	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	222	cd04146	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	166	cd04162	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	218	pfam00071	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	240	cd00876	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	157	cd01866	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Val162Met	602298.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	158	cd04110	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	170	cd01868	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	155	cd01867	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	166	cd01875	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	229	smart00174	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	168	cd04111	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	154	cd04145	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	310	cd00157	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	195	cd04125	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	188	smart00173	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	226	smart00175	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	153	cd04122	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	155	cd01869	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	168	cd00877	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	222	cd04102	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	194	cd04108	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	167	cd04109	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	169	cd04143	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	164	cd04142	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	207	cd04126	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	259	cd04107	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	155	cd04118	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	223	cd04132	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	241	cd04112	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	152	cd04120	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	148	cd04124	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	163	cd04123	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	156	cd04101	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	183	cd04115	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	256	cd04119	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	179	cd01862	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	412	cd00154	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	190	cd04130	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	172	cd04135	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	345	smart00010	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	179	cd04139	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	166	cd04127	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	213	cd04113	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	151	cd04103	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	154	cd04117	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	152	cd04106	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	167	cd01861	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	178	cd01863	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	230	cd01864	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	158	cd04128	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	143	smart00176	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	153	cd04177	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	147	cd01871	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	154	cd04141	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	165	cd04129	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	153	cd04138	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	156	cd04140	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	160	cd04136	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	254	cd01860	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	159	cd04176	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	147	cd01874	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	152	cd01865	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	164	cd04131	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	153	cd04175	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	164	cd04133	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	176	cd04153	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	195	COG2229	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	159	cd04114	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	193	pfam00025	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	206	cd04154	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	162	cd04116	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	168	cd04172	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	421	COG1100	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	754	cd00882	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	305	cd04159	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	163	cd04157	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	248	cd04160	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	295	cd00878	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	156	cd04147	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	185	cd04134	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	184	cd04144	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	170	cd04137	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	165	cd01870	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	221	cd04146	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	165	cd04162	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	217	pfam00071	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	239	cd00876	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	156	cd01866	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	157	cd04110	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	170	cd01868	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	155	cd01867	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	166	cd01875	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	229	smart00174	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	168	cd04111	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	154	cd04145	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	310	cd00157	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	195	cd04125	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	188	smart00173	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	226	smart00175	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	153	cd04122	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	155	cd01869	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	168	cd00877	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	222	cd04102	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	194	cd04108	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	167	cd04109	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	169	cd04143	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	164	cd04142	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	207	cd04126	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	259	cd04107	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	155	cd04118	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	223	cd04132	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	241	cd04112	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	152	cd04120	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	148	cd04124	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	163	cd04123	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	156	cd04101	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	183	cd04115	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	256	cd04119	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	179	cd01862	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	412	cd00154	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	190	cd04130	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	172	cd04135	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	345	smart00010	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	179	cd04139	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	166	cd04127	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	213	cd04113	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	151	cd04103	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	154	cd04117	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	152	cd04106	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	167	cd01861	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	178	cd01863	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	230	cd01864	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	158	cd04128	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	143	smart00176	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	153	cd04177	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	147	cd01871	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	154	cd04141	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	165	cd04129	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	153	cd04138	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	156	cd04140	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	160	cd04136	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	254	cd01860	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	159	cd04176	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	147	cd01874	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	152	cd01865	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	164	cd04131	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	153	cd04175	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	164	cd04133	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	176	cd04153	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	195	COG2229	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	159	cd04114	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	193	pfam00025	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	206	cd04154	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	162	cd04116	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	168	cd04172	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	421	COG1100	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	754	cd00882	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	305	cd04159	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	163	cd04157	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	248	cd04160	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	295	cd00878	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	156	cd04147	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	185	cd04134	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	184	cd04144	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	170	cd04137	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	165	cd01870	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	221	cd04146	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	165	cd04162	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	217	pfam00071	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	239	cd00876	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	156	cd01866	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Asn161Thr	602298.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	157	cd04110	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	166	cd01868	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	151	cd01867	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	162	cd01875	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	224	smart00174	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	164	cd04111	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	150	cd04145	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	305	cd00157	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	191	cd04125	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	183	smart00173	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	219	smart00175	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	149	cd04122	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	151	cd01869	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	164	cd00877	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	218	cd04102	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	190	cd04108	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	163	cd04109	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	165	cd04143	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	160	cd04142	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	203	cd04126	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	255	cd04107	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	151	cd04118	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	219	cd04132	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	237	cd04112	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	148	cd04120	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	144	cd04124	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	159	cd04123	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	152	cd04101	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	168	cd04115	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	252	cd04119	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	175	cd01862	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	408	cd00154	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	186	cd04130	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	168	cd04135	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	341	smart00010	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	175	cd04139	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	162	cd04127	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	209	cd04113	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	147	cd04103	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	150	cd04117	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	148	cd04106	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	163	cd01861	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	174	cd01863	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	226	cd01864	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	154	cd04128	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	139	smart00176	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	149	cd04177	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	143	cd01871	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	150	cd04141	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	161	cd04129	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	149	cd04138	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	152	cd04140	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	156	cd04136	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	250	cd01860	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	155	cd04176	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	143	cd01874	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	148	cd01865	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	160	cd04131	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	149	cd04175	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	160	cd04133	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	172	cd04153	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	191	COG2229	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	155	cd04114	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	189	pfam00025	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	202	cd04154	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	158	cd04116	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	164	cd04172	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	417	COG1100	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	639	cd00882	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	301	cd04159	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	156	cd04157	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	244	cd04160	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	291	cd00878	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	152	cd04147	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	181	cd04134	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	180	cd04144	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	166	cd04137	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	161	cd01870	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	212	cd04146	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	156	cd04162	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	213	pfam00071	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	235	cd00876	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	152	cd01866	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	153	cd04110	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	166	cd01868	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	151	cd01867	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	162	cd01875	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	224	smart00174	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	164	cd04111	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	150	cd04145	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	305	cd00157	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	191	cd04125	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	183	smart00173	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	219	smart00175	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	149	cd04122	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	151	cd01869	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	164	cd00877	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	218	cd04102	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	190	cd04108	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	163	cd04109	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	165	cd04143	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	160	cd04142	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	203	cd04126	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	255	cd04107	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	151	cd04118	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	219	cd04132	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	237	cd04112	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	148	cd04120	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	144	cd04124	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	159	cd04123	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	152	cd04101	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	168	cd04115	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	252	cd04119	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	175	cd01862	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	408	cd00154	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	186	cd04130	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	168	cd04135	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	341	smart00010	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	175	cd04139	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	162	cd04127	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	209	cd04113	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	147	cd04103	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	150	cd04117	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	148	cd04106	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	163	cd01861	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	174	cd01863	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	226	cd01864	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	154	cd04128	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	139	smart00176	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	149	cd04177	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	143	cd01871	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	150	cd04141	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	161	cd04129	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	149	cd04138	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	152	cd04140	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	156	cd04136	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	250	cd01860	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	155	cd04176	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	143	cd01874	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	148	cd01865	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	160	cd04131	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	149	cd04175	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	160	cd04133	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	172	cd04153	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	191	COG2229	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	155	cd04114	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	189	pfam00025	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	202	cd04154	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	158	cd04116	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	164	cd04172	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	417	COG1100	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	639	cd00882	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	301	cd04159	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	156	cd04157	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	244	cd04160	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	291	cd00878	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	152	cd04147	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	181	cd04134	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	180	cd04144	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	166	cd04137	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	161	cd01870	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	212	cd04146	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	156	cd04162	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	213	pfam00071	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	235	cd00876	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	152	cd01866	256985158,NP_796377|256985160,NP_001157994
338382	50401122	Disease	p.Lys157Asn	602298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602298	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B	OMIM	153	cd04110	256985158,NP_796377|256985160,NP_001157994
22954	20178303	Disease	p.Asp487Asn	602290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602290	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H	OMIM	21	pfam01436	153791514,NP_001093149|153792582,NP_036342
22954	20178303	Disease	p.Asp487Asn	602290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602290	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H	OMIM	21	pfam01436	153791514,NP_001093149|153792582,NP_036342
22954	20178303	Disease	p.Pro130Ser	602290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602290	BARDET-BIEDL SYNDROME 11	OMIM	36	cd00021	153791514,NP_001093149|153792582,NP_036342
22954	20178303	Disease	p.Pro130Ser	602290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602290	BARDET-BIEDL SYNDROME 11	OMIM	46	smart00336	153791514,NP_001093149|153792582,NP_036342
22954	20178303	Disease	p.Pro130Ser	602290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602290	BARDET-BIEDL SYNDROME 11	OMIM	36	cd00021	153791514,NP_001093149|153792582,NP_036342
22954	20178303	Disease	p.Pro130Ser	602290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602290	BARDET-BIEDL SYNDROME 11	OMIM	46	smart00336	153791514,NP_001093149|153792582,NP_036342
22954	20178303	Disease	p.Arg394His	602290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602290	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H	OMIM	28	pfam01436	153791514,NP_001093149|153792582,NP_036342
22954	20178303	Disease	p.Arg394His	602290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602290	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H	OMIM	28	pfam01436	153791514,NP_001093149|153792582,NP_036342
6309	124053650	Disease	p.Arg29Gln	602286.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602286	LATHOSTEROLOSIS	OMIM	19	COG3000	68160941,NP_008849|68160945,NP_001020127
6309	124053650	Disease	p.Arg29Gln	602286.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602286	LATHOSTEROLOSIS	OMIM	19	COG3000	68160941,NP_008849|68160945,NP_001020127
6309	124053650	Disease	p.Gly211Asp	602286.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602286	LATHOSTEROLOSIS	OMIM	175	pfam04116	68160941,NP_008849|68160945,NP_001020127
6309	124053650	Disease	p.Gly211Asp	602286.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602286	LATHOSTEROLOSIS	OMIM	241	COG3000	68160941,NP_008849|68160945,NP_001020127
6309	124053650	Disease	p.Gly211Asp	602286.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602286	LATHOSTEROLOSIS	OMIM	175	pfam04116	68160941,NP_008849|68160945,NP_001020127
6309	124053650	Disease	p.Gly211Asp	602286.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602286	LATHOSTEROLOSIS	OMIM	241	COG3000	68160941,NP_008849|68160945,NP_001020127
6309	124053650	Disease	p.Tyr46Ser	602286.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602286	LATHOSTEROLOSIS	OMIM	44	COG3000	68160941,NP_008849|68160945,NP_001020127
6309	124053650	Disease	p.Tyr46Ser	602286.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602286	LATHOSTEROLOSIS	OMIM	44	COG3000	68160941,NP_008849|68160945,NP_001020127
7287	206729948	Disease	p.Arg420Pro	602280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602280	RETINITIS PIGMENTOSA 14	OMIM	146	pfam01167	157266334,NP_003313
7287	206729948	Disease	p.Phe491Leu	602280.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602280	RETINITIS PIGMENTOSA 14	OMIM	266	pfam01167	157266334,NP_003313
7287	206729948	Disease	p.Ile459Lys	602280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602280	RETINITIS PIGMENTOSA 14	OMIM	234	pfam01167	157266334,NP_003313
7287	206729948	Disease	p.Phe382Ser	602280.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602280	RETINITIS PIGMENTOSA 14	OMIM	90	pfam01167	157266334,NP_003313
7287	206729948	Disease	p.Arg482Trp	602280.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602280	RETINITIS PIGMENTOSA 14	OMIM	257	pfam01167	157266334,NP_003313
8106	46403176	Disease	p.Gly12Ala	602279.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602279	OCULOPHARYNGEAL MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	4758876,NP_004634
2979	116242507	Disease	p.Gly157Arg	602275.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602275	RETINITIS PIGMENTOSA 48	OMIM	173	COG5126	153945858,NP_002089
2979	116242507	Disease	p.Gly157Arg	602275.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602275	RETINITIS PIGMENTOSA 48	OMIM	13	smart00054	153945858,NP_002089
2979	116242507	Disease	p.Gly157Arg	602275.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602275	RETINITIS PIGMENTOSA 48	OMIM	13	pfam00036	153945858,NP_002089
2979	116242507	Disease	p.Gly157Arg	602275.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602275	RETINITIS PIGMENTOSA 48	OMIM	67	cd00051	153945858,NP_002089
6934	226371625	Disease	p.Arg576Trp	602272.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	170014696	Disease	p.Arg576Trp	602272.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384252	Disease	p.Arg576Trp	602272.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384259	Disease	p.Arg576Trp	602272.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384254	Disease	p.Arg576Trp	602272.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	226371623	Disease	p.Arg576Trp	602272.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384263	Disease	p.Arg576Trp	602272.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	226371627	Disease	p.Arg576Trp	602272.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384250	Disease	p.Arg576Trp	602272.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384257	Disease	p.Arg576Trp	602272.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384261	Disease	p.Arg576Trp	602272.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	226371764	Disease	p.Arg576Trp	602272.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	226371620	Disease	p.Arg576Trp	602272.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	226371625	Disease	p.Arg576Gln	602272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	170014696	Disease	p.Arg576Gln	602272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384252	Disease	p.Arg576Gln	602272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384259	Disease	p.Arg576Gln	602272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384254	Disease	p.Arg576Gln	602272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	226371623	Disease	p.Arg576Gln	602272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384263	Disease	p.Arg576Gln	602272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	226371627	Disease	p.Arg576Gln	602272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384250	Disease	p.Arg576Gln	602272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384257	Disease	p.Arg576Gln	602272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384261	Disease	p.Arg576Gln	602272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	226371764	Disease	p.Arg576Gln	602272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	226371620	Disease	p.Arg576Gln	602272.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	226371625	Disease	p.Arg574Pro	602272.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	170014696	Disease	p.Arg574Pro	602272.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384252	Disease	p.Arg574Pro	602272.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384259	Disease	p.Arg574Pro	602272.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384254	Disease	p.Arg574Pro	602272.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	226371623	Disease	p.Arg574Pro	602272.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384263	Disease	p.Arg574Pro	602272.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	226371627	Disease	p.Arg574Pro	602272.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384250	Disease	p.Arg574Pro	602272.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384257	Disease	p.Arg574Pro	602272.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	309384261	Disease	p.Arg574Pro	602272.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	226371764	Disease	p.Arg574Pro	602272.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
6934	226371620	Disease	p.Arg574Pro	602272.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602272	PITT-HOPKINS SYNDROME	OMIM	No Domain	N/A	NULL
3785	26051260	Disease	p.Tyr284Cys	602235.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	63	pfam07885	NULL
3785	26051260	Disease	p.Tyr284Cys	602235.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	348	pfam00520	NULL
3785	26051266	Disease	p.Tyr284Cys	602235.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	63	pfam07885	NULL
3785	26051266	Disease	p.Tyr284Cys	602235.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	348	pfam00520	NULL
3785	14285389	Disease	p.Tyr284Cys	602235.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	63	pfam07885	26051264,NP_742105
3785	14285389	Disease	p.Tyr284Cys	602235.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	348	pfam00520	26051264,NP_742105
3785	26051262	Disease	p.Tyr284Cys	602235.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	63	pfam07885	NULL
3785	26051262	Disease	p.Tyr284Cys	602235.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	348	pfam00520	NULL
3785	26051268	Disease	p.Tyr284Cys	602235.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	63	pfam07885	NULL
3785	26051268	Disease	p.Tyr284Cys	602235.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	348	pfam00520	NULL
3785	26051260	Disease	p.Ala306Thr	602235.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	94	pfam07885	NULL
3785	26051260	Disease	p.Ala306Thr	602235.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	401	pfam00520	NULL
3785	26051266	Disease	p.Ala306Thr	602235.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	94	pfam07885	NULL
3785	26051266	Disease	p.Ala306Thr	602235.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	401	pfam00520	NULL
3785	14285389	Disease	p.Ala306Thr	602235.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	94	pfam07885	26051264,NP_742105
3785	14285389	Disease	p.Ala306Thr	602235.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	401	pfam00520	26051264,NP_742105
3785	26051262	Disease	p.Ala306Thr	602235.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	94	pfam07885	NULL
3785	26051262	Disease	p.Ala306Thr	602235.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	401	pfam00520	NULL
3785	26051268	Disease	p.Ala306Thr	602235.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	94	pfam07885	NULL
3785	26051268	Disease	p.Ala306Thr	602235.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	401	pfam00520	NULL
3785	26051260	Disease	p.Arg214Trp	602235.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	159	pfam00520	NULL
3785	26051266	Disease	p.Arg214Trp	602235.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	159	pfam00520	NULL
3785	14285389	Disease	p.Arg214Trp	602235.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	159	pfam00520	26051264,NP_742105
3785	26051262	Disease	p.Arg214Trp	602235.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	159	pfam00520	NULL
3785	26051268	Disease	p.Arg214Trp	602235.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1	OMIM	159	pfam00520	NULL
3785	26051260	Disease	p.Arg207Trp	602235.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA	OMIM	148	pfam00520	NULL
3785	26051266	Disease	p.Arg207Trp	602235.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA	OMIM	148	pfam00520	NULL
3785	14285389	Disease	p.Arg207Trp	602235.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA	OMIM	148	pfam00520	26051264,NP_742105
3785	26051262	Disease	p.Arg207Trp	602235.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA	OMIM	148	pfam00520	NULL
3785	26051268	Disease	p.Arg207Trp	602235.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA	OMIM	148	pfam00520	NULL
3785	26051260	Disease	p.Lys526Asn	602235.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1||EPILEPSY, BENIGN NEONATAL, 1, ATYPICAL SEVERE	OMIM	111	pfam03520	NULL
3785	26051266	Disease	p.Lys526Asn	602235.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1||EPILEPSY, BENIGN NEONATAL, 1, ATYPICAL SEVERE	OMIM	114	pfam03520	NULL
3785	14285389	Disease	p.Lys526Asn	602235.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1||EPILEPSY, BENIGN NEONATAL, 1, ATYPICAL SEVERE	OMIM	83	pfam03520	26051264,NP_742105
3785	26051262	Disease	p.Lys526Asn	602235.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1||EPILEPSY, BENIGN NEONATAL, 1, ATYPICAL SEVERE	OMIM	101	pfam03520	NULL
3785	26051268	Disease	p.Lys526Asn	602235.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1||EPILEPSY, BENIGN NEONATAL, 1, ATYPICAL SEVERE	OMIM	No Domain	N/A	NULL
3785	26051260	Disease	p.Ser247Trp	602235.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1||EPILEPSY, BENIGN NEONATAL, 1, ATYPICAL SEVERE	OMIM	11	pfam07885	NULL
3785	26051260	Disease	p.Ser247Trp	602235.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1||EPILEPSY, BENIGN NEONATAL, 1, ATYPICAL SEVERE	OMIM	193	pfam00520	NULL
3785	26051266	Disease	p.Ser247Trp	602235.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1||EPILEPSY, BENIGN NEONATAL, 1, ATYPICAL SEVERE	OMIM	11	pfam07885	NULL
3785	26051266	Disease	p.Ser247Trp	602235.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1||EPILEPSY, BENIGN NEONATAL, 1, ATYPICAL SEVERE	OMIM	193	pfam00520	NULL
3785	14285389	Disease	p.Ser247Trp	602235.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1||EPILEPSY, BENIGN NEONATAL, 1, ATYPICAL SEVERE	OMIM	11	pfam07885	26051264,NP_742105
3785	14285389	Disease	p.Ser247Trp	602235.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1||EPILEPSY, BENIGN NEONATAL, 1, ATYPICAL SEVERE	OMIM	193	pfam00520	26051264,NP_742105
3785	26051262	Disease	p.Ser247Trp	602235.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1||EPILEPSY, BENIGN NEONATAL, 1, ATYPICAL SEVERE	OMIM	11	pfam07885	NULL
3785	26051262	Disease	p.Ser247Trp	602235.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1||EPILEPSY, BENIGN NEONATAL, 1, ATYPICAL SEVERE	OMIM	193	pfam00520	NULL
3785	26051268	Disease	p.Ser247Trp	602235.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1||EPILEPSY, BENIGN NEONATAL, 1, ATYPICAL SEVERE	OMIM	11	pfam07885	NULL
3785	26051268	Disease	p.Ser247Trp	602235.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1||EPILEPSY, BENIGN NEONATAL, 1, ATYPICAL SEVERE	OMIM	193	pfam00520	NULL
3785	26051260	Disease	p.Arg207Gln	602235.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA	OMIM	148	pfam00520	NULL
3785	26051266	Disease	p.Arg207Gln	602235.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA	OMIM	148	pfam00520	NULL
3785	14285389	Disease	p.Arg207Gln	602235.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA	OMIM	148	pfam00520	26051264,NP_742105
3785	26051262	Disease	p.Arg207Gln	602235.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA	OMIM	148	pfam00520	NULL
3785	26051268	Disease	p.Arg207Gln	602235.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602235	EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA	OMIM	148	pfam00520	NULL
3786	5921785	Disease	p.Gly263Val	602232.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602232	EPILEPSY, BENIGN NEONATAL, 2	OMIM	180	pfam00520	4758630,NP_004510
6663	6175075	Disease	p.Ser135Thr	602229.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602229	WAARDENBURG SYNDROME, TYPE 2E, WITHOUT NEUROLOGIC INVOLVEMENT	OMIM	34	pfam00505	5902104,NP_008872
6663	6175075	Disease	p.Ser135Thr	602229.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602229	WAARDENBURG SYNDROME, TYPE 2E, WITHOUT NEUROLOGIC INVOLVEMENT	OMIM	46	cd00084	5902104,NP_008872
6663	6175075	Disease	p.Ser135Thr	602229.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602229	WAARDENBURG SYNDROME, TYPE 2E, WITHOUT NEUROLOGIC INVOLVEMENT	OMIM	43	cd01390	5902104,NP_008872
6663	6175075	Disease	p.Ser135Thr	602229.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602229	WAARDENBURG SYNDROME, TYPE 2E, WITHOUT NEUROLOGIC INVOLVEMENT	OMIM	52	smart00398	5902104,NP_008872
6663	6175075	Disease	p.Ser135Thr	602229.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602229	WAARDENBURG SYNDROME, TYPE 2E, WITHOUT NEUROLOGIC INVOLVEMENT	OMIM	35	cd01388	5902104,NP_008872
6663	6175075	Disease	p.Ser135Thr	602229.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602229	WAARDENBURG SYNDROME, TYPE 2E, WITHOUT NEUROLOGIC INVOLVEMENT	OMIM	42	cd01389	5902104,NP_008872
6663	6175075	Disease	p.Ala157Val	602229.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602229	WAARDENBURG SYNDROME, TYPE 4C	OMIM	56	pfam00505	5902104,NP_008872
6663	6175075	Disease	p.Ala157Val	602229.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602229	WAARDENBURG SYNDROME, TYPE 4C	OMIM	72	cd00084	5902104,NP_008872
6663	6175075	Disease	p.Ala157Val	602229.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602229	WAARDENBURG SYNDROME, TYPE 4C	OMIM	65	cd01390	5902104,NP_008872
6663	6175075	Disease	p.Ala157Val	602229.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602229	WAARDENBURG SYNDROME, TYPE 4C	OMIM	75	smart00398	5902104,NP_008872
6663	6175075	Disease	p.Ala157Val	602229.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602229	WAARDENBURG SYNDROME, TYPE 4C	OMIM	57	cd01388	5902104,NP_008872
6663	6175075	Disease	p.Ala157Val	602229.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602229	WAARDENBURG SYNDROME, TYPE 4C	OMIM	65	cd01389	5902104,NP_008872
6663	6175075	Disease	p.Gln174Pro	602229.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602229	WAARDENBURG SYNDROME, TYPE 2E, WITH NEUROLOGIC INVOLVEMENT	OMIM	82	cd01389	5902104,NP_008872
1406	3287764	Disease	p.Glu80Ala	602225.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602225	CONE-ROD DYSTROPHY 2	OMIM	94	COG5576	4557489,NP_000545
1406	3287764	Disease	p.Glu80Ala	602225.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602225	CONE-ROD DYSTROPHY 2	OMIM	73	cd00086	4557489,NP_000545
1406	3287764	Disease	p.Glu80Ala	602225.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602225	CONE-ROD DYSTROPHY 2	OMIM	81	smart00389	4557489,NP_000545
1406	3287764	Disease	p.Glu80Ala	602225.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602225	CONE-ROD DYSTROPHY 2	OMIM	51	pfam00046	4557489,NP_000545
1406	3287764	Disease	p.Arg41Trp	602225.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602225	CONE-ROD DYSTROPHY 2	OMIM	53	COG5576	4557489,NP_000545
1406	3287764	Disease	p.Arg41Trp	602225.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602225	CONE-ROD DYSTROPHY 2	OMIM	2	cd00086	4557489,NP_000545
1406	3287764	Disease	p.Arg41Trp	602225.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602225	CONE-ROD DYSTROPHY 2	OMIM	2	smart00389	4557489,NP_000545
1406	3287764	Disease	p.Arg41Trp	602225.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602225	CONE-ROD DYSTROPHY 2	OMIM	2	pfam00046	4557489,NP_000545
1406	3287764	Disease	p.Arg41Gln	602225.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602225	RETINITIS PIGMENTOSA, LATE-ONSET DOMINANT	OMIM	53	COG5576	4557489,NP_000545
1406	3287764	Disease	p.Arg41Gln	602225.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602225	RETINITIS PIGMENTOSA, LATE-ONSET DOMINANT	OMIM	2	cd00086	4557489,NP_000545
1406	3287764	Disease	p.Arg41Gln	602225.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602225	RETINITIS PIGMENTOSA, LATE-ONSET DOMINANT	OMIM	2	smart00389	4557489,NP_000545
1406	3287764	Disease	p.Arg41Gln	602225.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602225	RETINITIS PIGMENTOSA, LATE-ONSET DOMINANT	OMIM	2	pfam00046	4557489,NP_000545
1406	3287764	Disease	p.Arg90Trp	602225.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602225	LEBER CONGENITAL AMAUROSIS 7	OMIM	104	COG5576	4557489,NP_000545
1406	3287764	Disease	p.Arg90Trp	602225.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602225	LEBER CONGENITAL AMAUROSIS 7	OMIM	83	cd00086	4557489,NP_000545
1406	3287764	Disease	p.Arg90Trp	602225.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602225	LEBER CONGENITAL AMAUROSIS 7	OMIM	91	smart00389	4557489,NP_000545
1406	3287764	Disease	p.Arg90Trp	602225.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602225	LEBER CONGENITAL AMAUROSIS 7	OMIM	61	pfam00046	4557489,NP_000545
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	37	cd07877	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	39	cd06655	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	34	cd07850	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	28	cd06624	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	36	cd06636	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	35	cd07851	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	63	cd05622	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	63	cd05621	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	63	cd05596	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	42	cd07855	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	39	cd06648	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	26	cd05069	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	26	cd05071	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	29	cd07866	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	23	cd05036	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	33	cd05095	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	25	cd05058	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	13	cd05123	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	13	cd05585	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	9_G	cd05579	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	16	cd00180	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	13	cd05607	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	13	cd05577	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	13	cd05608	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	13	cd05572	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	15	cd05115	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd07853	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	13	cd05586	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	23_G	cd05600	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	26	cd05059	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	41	cd07876	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	37	cd07874	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	26	cd05034	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	41	cd06659	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	9	smart00220	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd07829	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	19	cd07830	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	22	cd07838	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	19	smart00221	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	23	cd06612	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	23	cd07840	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	19	cd07831	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	pfam00069	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	19	cd05118	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	22	cd06625	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	smart00219	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	28	cd05581	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	19	cd07835	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd05035	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	24	cd06616	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	29	cd05038	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	24	pfam07714	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	26	cd05148	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd05589	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd05601	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	19	cd05074	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	19	cd05075	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	42	cd06657	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	37	cd05101	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	40	cd06654	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	41	cd06633	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	35	cd07878	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	42	cd06639	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	35	cd07880	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	35	cd07879	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	40	cd06614	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	15	cd05618	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	15	cd05595	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	15	cd05591	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	15	cd05588	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	15	cd05575	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	26	cd07843	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	16	cd05085	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	15	cd05041	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	12	cd05084	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	15	cd05040	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	19	cd05582	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd05044	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd05037	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	15	cd05570	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	25	cd06620	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	15	cd05116	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	15	cd05620	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	15	cd05619	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	18	cd05604	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	15	cd05617	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	15	cd05592	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	12	cd05042	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	15	cd05590	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	15	cd05602	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	18	cd05060	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	16	cd05047	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	15	cd05593	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	16	cd00192	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	15	cd05594	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	15	cd05603	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	15	cd05571	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	30	cd05050	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	22	cd07834	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	23	cd05614	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd05605	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd05632	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd05630	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd05631	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd07861	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	16_G	cd08220	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd07836	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	27	cd06606	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd07863	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	16_G	cd08221	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	23	cd08530	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd06632	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd08528	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd08222	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd05578	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd07842	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd06627	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd07839	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd08529	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd06629	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	23	cd08218	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd08219	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd06631	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd08215	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd08223	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	23	cd08225	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd07860	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	23	cd08217	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd06628	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd06630	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	28	cd05081	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd07832	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd05616	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd05587	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	23	cd05613	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd07841	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	23	cd05583	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	28	cd05080	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd05615	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	26	cd06623	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	22	cd06653	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	28	cd05048	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	27	cd05122	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd05045	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd07859	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	22	cd06651	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20	cd07857	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	26	cd05090	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	26	cd05091	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	27	cd05108	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	26	cd06637	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	26	cd07873	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	19	cd08228	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	23	cd05083	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	19	cd08224	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	24	cd07872	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	23	cd07871	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	19	cd08229	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	25	cd07870	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	25	cd07869	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	28	cd05079	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	24	cd05065	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	39	cd06656	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	39	cd06647	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	41	cd05099	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	42	cd05098	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	25	cd06611	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	25	cd06643	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	24_G	cd05039	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20_G	cd07868	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd07867	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	38	cd06634	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	29	cd05113	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	29	cd06646	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	24	cd05093	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	35	cd06607	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	26	cd05068	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	26	cd05070	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	26	cd05072	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	53	cd05056	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	25	cd05073	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	35	cd07865	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	26	cd05067	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	30	cd05046	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	32	cd06644	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	19	cd05611	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	29	cd06645	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	24	cd06640	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	24	cd05574	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	27	cd07845	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	37	cd05053	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	33	cd05032	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	30	cd05092	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	30	cd05049	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	28	cd05064	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	41	cd05057	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd05573	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd07848	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd06610	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd07846	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd07833	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd07862	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	26	cd06608	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd05625	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd05598	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd05112	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd07847	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	31	cd05061	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd06622	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd05609	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	22	cd06609	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd05612	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	24	cd06641	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd07837	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	22	cd06652	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	31	cd05062	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	63	COG0515	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	26	cd05052	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd05623	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	23	cd05114	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd05628	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd06619	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd06917	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd05624	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd05597	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd06621	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd05580	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	33	cd05097	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	36	cd05100	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	45	cd06635	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	20_G	cd06605	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd06617	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd06626	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd06615	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	19	cd05584	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	21	cd05599	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	24	cd06642	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	44	cd07875	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	31_G	cd06618	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	23	cd06613	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	30	cd07856	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	25	cd07844	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	42	cd06658	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	25	cd07849	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	25	cd07854	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	38	cd06638	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	27	cd07864	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	26	cd07858	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	24	cd05082	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	14	cd05606	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	602216.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	14	cd05633	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	202	cd07877	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	199	cd06655	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	205	cd07850	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	200	cd06624	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	210	cd06636	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	220	cd07851	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	231	cd05622	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	231	cd05621	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	232	cd05596	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	222	cd07855	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	200	cd06648	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	187	cd05069	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	187	cd05071	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	234	cd07866	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	208	cd05036	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	227	cd05095	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	193	cd05058	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	796	cd05123	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	177	cd05585	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	728	cd05579	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	669	cd00180	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	179	cd05607	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	185	cd05577	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	181	cd05608	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	255	cd05572	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	182	cd05115	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	190	cd07853	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	181	cd05586	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	253	cd05600	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	187	cd05059	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	206	cd07876	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	202	cd07874	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	198	cd05034	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	201	cd06659	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	778	smart00220	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	239	cd07829	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	322	cd07830	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	233	cd07838	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	839	smart00221	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	204	cd06612	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	284	cd07840	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	191	cd07831	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	336	pfam00069	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	197	cd05118	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	194	cd06625	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	573	smart00219	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	435	cd05581	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	212	cd07835	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	209	cd05035	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	202	cd06616	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	222	cd05038	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	381	pfam07714	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	190	cd05148	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	185	cd05589	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	196	cd05601	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	199	cd05074	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	213	cd05075	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	200	cd06657	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	223	cd05101	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	200	cd06654	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	204	cd06633	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	200	cd07878	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	224	cd06639	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	200	cd07880	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	210	cd07879	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	238	cd06614	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	180	cd05618	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	179	cd05595	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	180	cd05591	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	180	cd05588	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	180	cd05575	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	208	cd07843	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	179	cd05085	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	182	cd05041	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	180	cd05084	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	197	cd05040	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	182	cd05582	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	203	cd05044	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	215	cd05037	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	182	cd05570	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	190	cd06620	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	182	cd05116	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	195	cd05620	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	180	cd05619	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	180	cd05604	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	180	cd05617	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	196	cd05592	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	197	cd05042	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	180	cd05590	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	180	cd05602	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	189	cd05060	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	195	cd05047	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	179	cd05593	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	422	cd00192	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	180	cd05594	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	180	cd05603	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	180	cd05571	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	213	cd07852	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	219	cd05050	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	273	cd07834	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	191	cd05614	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	185	cd05605	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	185	cd05632	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	185	cd05630	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	185	cd05631	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	187	cd07861	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	194	cd08220	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	188	cd07836	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	330	cd06606	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	194	cd07863	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	188	cd08221	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	192	cd08530	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	210	cd06632	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	207	cd08528	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	190	cd08222	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	195	cd05578	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	353	cd07842	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	229	cd06627	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	184	cd07839	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	190	cd08529	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	200	cd06629	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	185	cd08218	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	184	cd08219	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	194	cd06631	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	253	cd08215	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	186	cd08223	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	186	cd08225	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	185	cd07860	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	257	cd08217	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	200	cd06628	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	193	cd06630	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	195	cd05081	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	207	cd07832	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	185	cd05616	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	190	cd05587	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	205	cd05613	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	222	cd07841	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	193	cd05583	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	194	cd05080	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	185	cd05615	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	243	cd06623	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	193	cd06653	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	213	cd05048	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	229	cd05122	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	213	cd05045	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	197	cd07859	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	193	cd06651	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	202	cd07857	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	210	cd05090	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	210	cd05091	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	195	cd05108	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	200	cd06637	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	189	cd07873	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	190	cd08228	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	181	cd05083	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	191	cd08224	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	189	cd07872	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	188	cd07871	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	190	cd08229	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	188	cd07870	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	188	cd07869	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	196	cd05079	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	195	cd05065	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	199	cd06656	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	199	cd06647	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	220	cd05099	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	226	cd05098	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	194	cd06611	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	192	cd06643	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	190	cd05039	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	200	cd07868	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	200	cd07867	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	198	cd06634	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	186	cd05113	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	193	cd06646	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	206	cd05093	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	198	cd06607	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	193	cd05068	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	187	cd05070	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	188	cd05072	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	223	cd05056	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	188	cd05073	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	215	cd07865	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	187	cd05067	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	271	cd05046	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	199	cd06644	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	376	cd05611	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	193	cd06645	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	185	cd06640	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	281	cd05574	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	208	cd07845	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	236	cd05053	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	250	cd05032	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	208	cd05092	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	218	cd05049	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	193	cd05064	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	249	cd05057	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	329	cd05573	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	214	cd07848	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	208	cd06610	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	187	cd07846	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	244	cd07833	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	194	cd07862	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	237	cd06608	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	232	cd05625	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	245	cd05598	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	185	cd05112	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	192	cd07847	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	206	cd05061	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	209	cd06622	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	201	cd05609	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	215	cd06609	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	182	cd05612	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	185	cd06641	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	204	cd07837	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	217	cd06652	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	205	cd05062	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	876	COG0515	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	189	cd05052	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	192	cd05623	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	185	cd05114	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	220	cd05628	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	198	cd06619	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	198	cd06917	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	192	cd05624	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	194	cd05597	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	193	cd06621	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	247	cd05580	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	217	cd05097	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	220	cd05100	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	208	cd06635	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	208	cd06605	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	192	cd06617	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	231	cd06626	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	184	cd06615	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	188	cd05584	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	399	cd05599	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	185	cd06642	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	209	cd07875	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	207	cd06618	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	193	cd06613	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	190	cd07856	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	189	cd07844	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	202	cd06658	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	209	cd07849	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	215	cd07854	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	213	cd06638	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	205	cd07864	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	198	cd07858	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	183	cd05082	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	181	cd05606	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	602216.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	180	cd05633	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	338	cd05622	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	338	cd05621	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	339	cd05596	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	281	cd05585	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	364	cd07853	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	292	cd05586	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	375	cd05600	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	361	cd07874	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	314	cd05589	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	342	cd05601	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	312	cd06633	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	313	cd07880	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	324	cd07879	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	299	cd05618	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	304	cd05595	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	300	cd05591	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	310	cd05588	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	293	cd05575	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	287	cd05582	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	326	cd05570	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	315	cd05620	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	300	cd05619	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	309	cd05604	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	312	cd05617	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	322	cd05592	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	307	cd05590	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	305_G	cd05602	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	284	cd05593	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	285	cd05594	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	284	cd05603	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	298	cd05571	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	317	cd05614	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	310	cd05616	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	317	cd05587	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	316	cd05615	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	311	cd07859	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	308	cd05108	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	299	cd07869	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	312	cd06607	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	520	cd05573	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	353_G	cd05625	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	357	cd05598	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	323	cd05609	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	1287	COG0515	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	297	cd05623	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	349	cd05628	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	297	cd05624	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	302	cd05597	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	389	cd05580	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	324	cd05100	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	312	cd05584	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	564	cd05599	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	361	cd07875	4507271,NP_000446
6794	3024670	Disease	p.Phe354Leu	602216.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602216	PEUTZ-JEGHERS SYNDROME	OMIM	318	cd07858	4507271,NP_000446
3766	2493605	Disease	p.Arg65Pro	602208.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602208	SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE	OMIM	36	pfam01007	25121966,NP_002232
3766	2493605	Disease	p.Cys140Arg	602208.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602208	SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE	OMIM	132	pfam01007	25121966,NP_002232
3766	2493605	Disease	p.Thr164Ile	602208.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602208	SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE	OMIM	156	pfam01007	25121966,NP_002232
3766	2493605	Disease	p.Ala167Val	602208.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602208	SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE	OMIM	159	pfam01007	25121966,NP_002232
3766	2493605	Disease	p.Arg297Cys	602208.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602208	SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE	OMIM	292	pfam01007	25121966,NP_002232
3766	2493605	Disease	p.Gly77Arg	602208.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602208	SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE	OMIM	48	pfam01007	25121966,NP_002232
3766	2493605	Disease	p.Arg194His	602208.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602208	ENLARGED VESTIBULAR AQUEDUCT, DIGENIC	OMIM	186	pfam01007	25121966,NP_002232
3766	2493605	Disease	p.Arg348Cys	602208.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602208	ENLARGED VESTIBULAR AQUEDUCT, DIGENIC	OMIM	344	pfam01007	25121966,NP_002232
1893	221316616	Disease	p.Phe167Ile	602201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602201	LIPOID PROTEINOSIS OF URBACH AND WIETHE	OMIM	187	pfam05782	NULL
1893	48429255	Disease	p.Phe167Ile	602201.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602201	LIPOID PROTEINOSIS OF URBACH AND WIETHE	OMIM	187	pfam05782	221316614,NP_004416
3315	19855073	Disease	p.Ser135Phe	602195.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	73	cd06526	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	602195.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	52	cd06497	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	602195.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	52	cd06475	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	602195.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	49	cd06498	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	602195.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	49	cd06478	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	602195.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	137	cd06464	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	602195.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	49	cd06477	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	602195.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	59	pfam00011	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	602195.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	148	cd00298	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	602195.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	53	cd06482	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	602195.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	55	cd06481	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	602195.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	50	cd06476	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	602195.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	47	cd06479	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	602195.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	57	cd06480	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	602195.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	51	cd06526	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	602195.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	44	cd06497	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	602195.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	44	cd06475	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	602195.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	41	cd06498	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	602195.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	41	cd06478	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	602195.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	54	cd06464	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	602195.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	41	cd06477	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	602195.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	51	pfam00011	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	602195.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	65	cd00298	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	602195.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	42	cd06482	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	602195.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	43	cd06481	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	602195.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	42	cd06476	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	602195.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	39	cd06479	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	602195.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	49	cd06480	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	602195.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	91	cd06526	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	602195.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	68	cd06497	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	602195.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	68	cd06475	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	602195.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	65	cd06498	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	602195.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	65	cd06478	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	602195.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	159	cd06464	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	602195.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	65	cd06477	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	602195.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	81	pfam00011	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	602195.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	172	cd00298	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	602195.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	69	cd06482	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	602195.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	71	cd06481	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	602195.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	66	cd06476	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	602195.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	63	cd06479	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	602195.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	73	cd06480	4504517,NP_001531
3315	19855073	Disease	p.Pro182Leu	602195.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	116	pfam00011	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	602195.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	74	cd06526	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	602195.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	53	cd06497	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	602195.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	53	cd06475	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	602195.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	50	cd06498	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	602195.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	50	cd06478	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	602195.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	138	cd06464	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	602195.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	50	cd06477	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	602195.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	64	pfam00011	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	602195.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	149	cd00298	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	602195.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	54	cd06482	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	602195.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	56	cd06481	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	602195.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	51	cd06476	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	602195.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	48	cd06479	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	602195.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	OMIM	58	cd06480	4504517,NP_001531
3315	19855073	Disease	p.Pro182Ser	602195.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	116	pfam00011	4504517,NP_001531
3315	19855073	Disease	p.Arg140Gly	602195.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	78	cd06526	4504517,NP_001531
3315	19855073	Disease	p.Arg140Gly	602195.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	57	cd06497	4504517,NP_001531
3315	19855073	Disease	p.Arg140Gly	602195.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	57	cd06475	4504517,NP_001531
3315	19855073	Disease	p.Arg140Gly	602195.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	54	cd06498	4504517,NP_001531
3315	19855073	Disease	p.Arg140Gly	602195.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	54	cd06478	4504517,NP_001531
3315	19855073	Disease	p.Arg140Gly	602195.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	142	cd06464	4504517,NP_001531
3315	19855073	Disease	p.Arg140Gly	602195.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	54	cd06477	4504517,NP_001531
3315	19855073	Disease	p.Arg140Gly	602195.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	68	pfam00011	4504517,NP_001531
3315	19855073	Disease	p.Arg140Gly	602195.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	153	cd00298	4504517,NP_001531
3315	19855073	Disease	p.Arg140Gly	602195.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	58	cd06482	4504517,NP_001531
3315	19855073	Disease	p.Arg140Gly	602195.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	60	cd06481	4504517,NP_001531
3315	19855073	Disease	p.Arg140Gly	602195.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	55	cd06476	4504517,NP_001531
3315	19855073	Disease	p.Arg140Gly	602195.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	52	cd06479	4504517,NP_001531
3315	19855073	Disease	p.Arg140Gly	602195.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	OMIM	62	cd06480	4504517,NP_001531
3315	19855073	Disease	p.Leu99Met	602195.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AUTOSOMAL RECESSIVE	OMIM	20	cd06526	4504517,NP_001531
3315	19855073	Disease	p.Leu99Met	602195.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AUTOSOMAL RECESSIVE	OMIM	16	cd06497	4504517,NP_001531
3315	19855073	Disease	p.Leu99Met	602195.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AUTOSOMAL RECESSIVE	OMIM	16	cd06475	4504517,NP_001531
3315	19855073	Disease	p.Leu99Met	602195.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AUTOSOMAL RECESSIVE	OMIM	13	cd06498	4504517,NP_001531
3315	19855073	Disease	p.Leu99Met	602195.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AUTOSOMAL RECESSIVE	OMIM	13	cd06478	4504517,NP_001531
3315	19855073	Disease	p.Leu99Met	602195.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AUTOSOMAL RECESSIVE	OMIM	20	cd06464	4504517,NP_001531
3315	19855073	Disease	p.Leu99Met	602195.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AUTOSOMAL RECESSIVE	OMIM	13	cd06477	4504517,NP_001531
3315	19855073	Disease	p.Leu99Met	602195.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AUTOSOMAL RECESSIVE	OMIM	13	pfam00011	4504517,NP_001531
3315	19855073	Disease	p.Leu99Met	602195.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AUTOSOMAL RECESSIVE	OMIM	19	cd00298	4504517,NP_001531
3315	19855073	Disease	p.Leu99Met	602195.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AUTOSOMAL RECESSIVE	OMIM	14	cd06482	4504517,NP_001531
3315	19855073	Disease	p.Leu99Met	602195.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AUTOSOMAL RECESSIVE	OMIM	14	cd06481	4504517,NP_001531
3315	19855073	Disease	p.Leu99Met	602195.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AUTOSOMAL RECESSIVE	OMIM	14	cd06476	4504517,NP_001531
3315	19855073	Disease	p.Leu99Met	602195.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AUTOSOMAL RECESSIVE	OMIM	14	cd06479	4504517,NP_001531
3315	19855073	Disease	p.Leu99Met	602195.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602195	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AUTOSOMAL RECESSIVE	OMIM	21	cd06480	4504517,NP_001531
5654	18202620	Disease	p.Val297Met	602194.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602194	CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	426	COG0265	4506141,NP_002766
5654	18202620	Disease	p.Val297Met	602194.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602194	CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	225	pfam00089	4506141,NP_002766
5654	18202620	Disease	p.Ala252Thr	602194.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602194	CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	361	COG0265	4506141,NP_002766
5654	18202620	Disease	p.Ala252Thr	602194.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602194	CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	145	pfam00089	4506141,NP_002766
4615	197276654	Disease	p.Arg196Cys	602170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	39	smart00255	NULL
4615	197276654	Disease	p.Arg196Cys	602170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	33	pfam01582	NULL
4615	289546500	Disease	p.Arg196Cys	602170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	No Domain	N/A	NULL
4615	289546503	Disease	p.Arg196Cys	602170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	39	smart00255	NULL
4615	289546503	Disease	p.Arg196Cys	602170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	33	pfam01582	NULL
4615	289546653	Disease	p.Arg196Cys	602170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	No Domain	N/A	NULL
4615	289546581	Disease	p.Arg196Cys	602170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	93	smart00255	NULL
4615	289546581	Disease	p.Arg196Cys	602170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	86	pfam01582	NULL
4615	197276654	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	62	cd08311	NULL
4615	197276654	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	63	cd08312	NULL
4615	197276654	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	72	cd01670	NULL
4615	197276654	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	56	cd08310	NULL
4615	197276654	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	131	smart00005	NULL
4615	197276654	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	62	pfam00531	NULL
4615	289546500	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	62	cd08311	NULL
4615	289546500	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	63	cd08312	NULL
4615	289546500	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	72	cd01670	NULL
4615	289546500	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	56	cd08310	NULL
4615	289546500	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	131	smart00005	NULL
4615	289546500	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	62	pfam00531	NULL
4615	289546503	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	62	cd08311	NULL
4615	289546503	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	63	cd08312	NULL
4615	289546503	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	72	cd01670	NULL
4615	289546503	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	56	cd08310	NULL
4615	289546503	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	131	smart00005	NULL
4615	289546503	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	62	pfam00531	NULL
4615	289546653	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	62	cd08311	NULL
4615	289546653	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	63	cd08312	NULL
4615	289546653	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	72	cd01670	NULL
4615	289546653	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	56	cd08310	NULL
4615	289546653	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	131	smart00005	NULL
4615	289546653	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	62	pfam00531	NULL
4615	289546581	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	62	cd08311	NULL
4615	289546581	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	63	cd08312	NULL
4615	289546581	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	72	cd01670	NULL
4615	289546581	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	56	cd08310	NULL
4615	289546581	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	131	smart00005	NULL
4615	289546581	Disease	p.Leu93Pro	602170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602170	MYD88 DEFICIENCY	OMIM	62	pfam00531	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	9	cd06959	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	9	cd06965	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	9	cd06961	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	9	cd07162	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	11	smart00399	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	12	cd07172	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	11	cd07161	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	11	cd06962	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	28	cd07160	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	16	cd06970	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	16	cd07168	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	8	cd06957	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	8	cd07179	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	8	cd07165	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	8	cd07164	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	8	cd06916	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	8	cd07154	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	8	cd07158	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	8	cd07156	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	8	cd06960	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	8	cd07155	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	8	cd06963	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	8	cd06958	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	8	cd07167	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	17	cd07163	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	15	cd06968	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	16	cd07169	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	14	cd06964	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	14	cd07170	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	16	cd06955	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	13	cd07171	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	13	cd07173	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	13	cd07166	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	13	cd06967	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	10	pfam00105	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	10	cd06966	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	10	cd06956	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	10	cd06969	NULL
2103	238550159	Disease	p.Ala110Val	602167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	10	cd07157	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	162	cd06939	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	130	cd06941	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	144	cd06929	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	147	cd07072	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	132	cd06157	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	175	cd06943	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	209	cd06933	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	135	cd06930	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	189	cd06953	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	133	cd06952	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	120	cd06940	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	165	pfam00104	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	166	cd06935	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	153	cd06949	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	145	cd06948	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	177	cd06945	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	144	cd07348	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	151	cd06938	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	134	cd07073	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	171	cd06946	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	180	cd07068	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	145	cd06931	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	156	cd07350	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	190	cd06936	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	150	cd06951	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	144	cd07071	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	196	cd06954	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	135	cd06950	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	134	cd07076	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	145	cd06937	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	134	cd07074	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	134	cd07075	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	134	cd06947	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	149	cd07069	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	237	cd06934	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	151	cd06944	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	148	cd07070	NULL
2103	238550159	Disease	p.Val342Leu	602167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602167	DEAFNESS, AUTOSOMAL RECESSIVE 35	OMIM	704	smart00430	NULL
3887	311033435	Disease	p.Glu413Lys	602153.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602153	MONILETHRIX	OMIM	381	pfam00038	169790853,NP_002272
3887	311033435	Disease	p.Glu402Lys	602153.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602153	MONILETHRIX	OMIM	369	pfam00038	169790853,NP_002272
5307	108935922	Disease	p.Glu230Lys	602149.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602149	CLUBFOOT, CONGENITAL	OMIM	No Domain	N/A	152963644,NP_002644
89884	209572644	Disease	p.Ala210Pro	602146.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602146	PITUITARY HORMONE DEFICIENCY, COMBINED, 4	OMIM	106	COG5576	15375314,NP_203129
89884	209572644	Disease	p.Ala210Pro	602146.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602146	PITUITARY HORMONE DEFICIENCY, COMBINED, 4	OMIM	93	smart00389	15375314,NP_203129
89884	209572644	Disease	p.Ala210Pro	602146.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602146	PITUITARY HORMONE DEFICIENCY, COMBINED, 4	OMIM	63	pfam00046	15375314,NP_203129
89884	209572644	Disease	p.Ala210Pro	602146.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602146	PITUITARY HORMONE DEFICIENCY, COMBINED, 4	OMIM	85	cd00086	15375314,NP_203129
89884	209572644	Disease	p.Arg84Cys	602146.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602146	PITUITARY HORMONE DEFICIENCY, COMBINED, 4	OMIM	70	pfam00412	15375314,NP_203129
89884	209572644	Disease	p.Leu190Arg	602146.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602146	PITUITARY HORMONE DEFICIENCY, COMBINED, 4	OMIM	84	COG5576	15375314,NP_203129
89884	209572644	Disease	p.Leu190Arg	602146.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602146	PITUITARY HORMONE DEFICIENCY, COMBINED, 4	OMIM	52	smart00389	15375314,NP_203129
89884	209572644	Disease	p.Leu190Arg	602146.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602146	PITUITARY HORMONE DEFICIENCY, COMBINED, 4	OMIM	38	pfam00046	15375314,NP_203129
89884	209572644	Disease	p.Leu190Arg	602146.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602146	PITUITARY HORMONE DEFICIENCY, COMBINED, 4	OMIM	44	cd00086	15375314,NP_203129
89884	209572644	Disease	p.Pro366Thr	602146.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602146	PITUITARY HORMONE DEFICIENCY, COMBINED, 4	OMIM	No Domain	N/A	15375314,NP_203129
4728	2499325	Disease	p.Pro79Leu	602141.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602141	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	8	COG1145	4505371,NP_002487
4728	2499325	Disease	p.Pro79Leu	602141.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602141	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	35	COG1143	4505371,NP_002487
4728	2499325	Disease	p.Arg102His	602141.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602141	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	18	COG1144	4505371,NP_002487
4728	2499325	Disease	p.Arg102His	602141.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602141	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	41	COG1145	4505371,NP_002487
4728	2499325	Disease	p.Arg102His	602141.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602141	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	59	COG1143	4505371,NP_002487
4728	2499325	Disease	p.Pro85Leu	602141.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602141	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	20	COG1145	4505371,NP_002487
4728	2499325	Disease	p.Pro85Leu	602141.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602141	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	41	COG1143	4505371,NP_002487
4728	2499325	Disease	p.Arg138His	602141.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602141	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	64	COG1144	4505371,NP_002487
4728	2499325	Disease	p.Arg138His	602141.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602141	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	233	COG1145	4505371,NP_002487
4728	2499325	Disease	p.Arg138His	602141.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602141	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	121	COG1143	4505371,NP_002487
5189	8134613	Disease	p.Gly843Asp	602136.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602136	REFSUM DISEASE, INFANTILE FORM||NEONATAL ADRENOLEUKODYSTROPHY||ZELLWEGER SYNDROME	OMIM	116	COG1223	4505725,NP_000457
5189	8134613	Disease	p.Gly843Asp	602136.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602136	REFSUM DISEASE, INFANTILE FORM||NEONATAL ADRENOLEUKODYSTROPHY||ZELLWEGER SYNDROME	OMIM	433	COG0464	4505725,NP_000457
5189	8134613	Disease	p.Gly843Asp	602136.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602136	REFSUM DISEASE, INFANTILE FORM||NEONATAL ADRENOLEUKODYSTROPHY||ZELLWEGER SYNDROME	OMIM	267	COG0465	4505725,NP_000457
5189	8134613	Disease	p.Gly843Asp	602136.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602136	REFSUM DISEASE, INFANTILE FORM||NEONATAL ADRENOLEUKODYSTROPHY||ZELLWEGER SYNDROME	OMIM	202	COG1222	4505725,NP_000457
5189	8134613	Disease	p.Leu664Pro	602136.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602136	ZELLWEGER SYNDROME||NEONATAL ADRENOLEUKODYSTROPHY	OMIM	139	pfam00004	4505725,NP_000457
5189	8134613	Disease	p.Leu664Pro	602136.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602136	ZELLWEGER SYNDROME||NEONATAL ADRENOLEUKODYSTROPHY	OMIM	126	pfam05729	4505725,NP_000457
5189	8134613	Disease	p.Leu664Pro	602136.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602136	ZELLWEGER SYNDROME||NEONATAL ADRENOLEUKODYSTROPHY	OMIM	317	smart00382	4505725,NP_000457
5189	8134613	Disease	p.Leu664Pro	602136.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602136	ZELLWEGER SYNDROME||NEONATAL ADRENOLEUKODYSTROPHY	OMIM	103	COG0464	4505725,NP_000457
5189	8134613	Disease	p.Leu664Pro	602136.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602136	ZELLWEGER SYNDROME||NEONATAL ADRENOLEUKODYSTROPHY	OMIM	374	cd00009	4505725,NP_000457
5189	8134613	Disease	p.Leu664Pro	602136.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602136	ZELLWEGER SYNDROME||NEONATAL ADRENOLEUKODYSTROPHY	OMIM	7	COG0465	4505725,NP_000457
1352	292495084	Disease	p.Asn204Lys	602125.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602125	MITOCHONDRIAL COMPLEX IV DEFICIENCY||ENCEPHALOPATHY, PROGRESSIVE MITOCHONDRIAL, WITH PROXIMAL RENAL TUBULOPATHY DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	84	pfam01040	17921982,NP_001294
1352	292495084	Disease	p.Asn204Lys	602125.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602125	MITOCHONDRIAL COMPLEX IV DEFICIENCY||ENCEPHALOPATHY, PROGRESSIVE MITOCHONDRIAL, WITH PROXIMAL RENAL TUBULOPATHY DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	109	COG0109	17921982,NP_001294
1352	292495084	Disease	p.Asn204Lys	602125.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602125	MITOCHONDRIAL COMPLEX IV DEFICIENCY||ENCEPHALOPATHY, PROGRESSIVE MITOCHONDRIAL, WITH PROXIMAL RENAL TUBULOPATHY DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	78	COG0382	17921982,NP_001294
1352	292495084	Disease	p.Thr196Lys	602125.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602125	MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	60	pfam01040	17921982,NP_001294
1352	292495084	Disease	p.Thr196Lys	602125.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602125	MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	101	COG0109	17921982,NP_001294
1352	292495084	Disease	p.Thr196Lys	602125.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602125	MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	70	COG0382	17921982,NP_001294
1352	292495084	Disease	p.Pro225Leu	602125.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602125	MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	145	pfam01040	17921982,NP_001294
1352	292495084	Disease	p.Pro225Leu	602125.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602125	MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	130	COG0109	17921982,NP_001294
1352	292495084	Disease	p.Pro225Leu	602125.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602125	MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	108	COG0382	17921982,NP_001294
1352	292495084	Disease	p.Asp336Val	602125.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602125	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	440	pfam01040	17921982,NP_001294
1352	292495084	Disease	p.Asp336Val	602125.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602125	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	250	COG0109	17921982,NP_001294
1352	292495084	Disease	p.Asp336Val	602125.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602125	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	238	COG0382	17921982,NP_001294
1352	292495084	Disease	p.Asp336Gly	602125.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602125	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	440	pfam01040	17921982,NP_001294
1352	292495084	Disease	p.Asp336Gly	602125.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602125	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	250	COG0109	17921982,NP_001294
1352	292495084	Disease	p.Asp336Gly	602125.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602125	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	238	COG0382	17921982,NP_001294
2255	6015141	Disease	p.Cys106Phe	602115.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602115	LADD SYNDROME	OMIM	51	smart00442	4758360,NP_004456
2255	6015141	Disease	p.Cys106Phe	602115.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602115	LADD SYNDROME	OMIM	41	cd00058	4758360,NP_004456
2255	6015141	Disease	p.Cys106Phe	602115.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602115	LADD SYNDROME	OMIM	48	pfam00167	4758360,NP_004456
2255	6015141	Disease	p.Ile156Arg	602115.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602115	LADD SYNDROME	OMIM	109	smart00442	4758360,NP_004456
2255	6015141	Disease	p.Ile156Arg	602115.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602115	LADD SYNDROME	OMIM	97	cd00058	4758360,NP_004456
2255	6015141	Disease	p.Ile156Arg	602115.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602115	LADD SYNDROME	OMIM	134	pfam00167	4758360,NP_004456
2255	6015141	Disease	p.Arg80Ser	602115.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602115	APLASIA OF LACRIMAL AND SALIVARY GLANDS	OMIM	5	smart00442	4758360,NP_004456
2255	6015141	Disease	p.Arg80Ser	602115.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602115	APLASIA OF LACRIMAL AND SALIVARY GLANDS	OMIM	3	pfam00167	4758360,NP_004456
2255	6015141	Disease	p.Gly138Glu	602115.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602115	APLASIA OF LACRIMAL AND SALIVARY GLANDS	OMIM	83	smart00442	4758360,NP_004456
2255	6015141	Disease	p.Gly138Glu	602115.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602115	APLASIA OF LACRIMAL AND SALIVARY GLANDS	OMIM	74	cd00058	4758360,NP_004456
2255	6015141	Disease	p.Gly138Glu	602115.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602115	APLASIA OF LACRIMAL AND SALIVARY GLANDS	OMIM	88	pfam00167	4758360,NP_004456
9757	12643900	Disease	p.Arg5179His	602113.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602113	KABUKI SYNDROME	OMIM	No Domain	N/A	7662046,NP_055542
9757	12643900	Disease	p.Thr5464Met	602113.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602113	KABUKI SYNDROME	OMIM	No Domain	N/A	7662046,NP_055542
4148	14548113	Disease	p.Val194Asp	602109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	115	cd01475	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	602109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	148	cd01480	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	602109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	122	cd01474	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	602109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	116	cd01471	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	602109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	221	cd00198	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	602109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	183	cd01450	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	602109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	111	cd01469	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	602109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	119	cd01476	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	602109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	147	cd01472	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	602109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	113	cd01481	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	602109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	115	cd01473	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	602109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	108	cd01465	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	602109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	116	cd01482	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	602109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	166	pfam00092	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	602109.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	395	smart00327	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	602109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	42	cd01475	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	602109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	61	cd01480	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	602109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	48	cd01474	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	602109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	41	cd01471	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	602109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	64	cd00198	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	602109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	65	cd01450	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	602109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	40	cd01469	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	602109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	40	cd01476	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	602109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	59	cd01472	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	602109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	40	cd01481	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	602109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	41	cd01473	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	602109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	38	cd01465	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	602109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	43	cd01482	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	602109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	58	pfam00092	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	602109.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	128	smart00327	11321565,NP_002372
4148	14548113	Disease	p.Thr303Met	602109.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	OSTEOARTHRITIS SUSCEPTIBILITY 2	OMIM	81	smart00181	11321565,NP_002372
4148	14548113	Disease	p.Thr303Met	602109.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	OSTEOARTHRITIS SUSCEPTIBILITY 2	OMIM	84	cd00053	11321565,NP_002372
4148	14548113	Disease	p.Thr303Met	602109.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	OSTEOARTHRITIS SUSCEPTIBILITY 2	OMIM	82	smart00179	11321565,NP_002372
4148	14548113	Disease	p.Thr303Met	602109.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	OSTEOARTHRITIS SUSCEPTIBILITY 2	OMIM	88	cd00054	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	602109.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	140	cd01475	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	602109.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	184	cd01480	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	602109.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	151	cd01474	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	602109.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	145	cd01471	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	602109.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	288	cd00198	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	602109.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	241	cd01450	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	602109.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	139	cd01469	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	602109.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	148	cd01476	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	602109.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	183	cd01472	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	602109.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	138	cd01481	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	602109.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	144	cd01473	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	602109.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	140	cd01465	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	602109.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	141	cd01482	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	602109.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	214	pfam00092	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	602109.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	530	smart00327	11321565,NP_002372
4148	14548113	Disease	p.Cys304Ser	602109.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATN3-RELATED	OMIM	82	smart00181	11321565,NP_002372
4148	14548113	Disease	p.Cys304Ser	602109.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATN3-RELATED	OMIM	85	cd00053	11321565,NP_002372
4148	14548113	Disease	p.Cys304Ser	602109.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATN3-RELATED	OMIM	83	smart00179	11321565,NP_002372
4148	14548113	Disease	p.Cys304Ser	602109.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATN3-RELATED	OMIM	89	cd00054	11321565,NP_002372
4148	14548113	Disease	p.Arg70His	602109.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	No Domain	N/A	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	602109.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	49	cd01475	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	602109.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	68	cd01480	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	602109.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	55	cd01474	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	602109.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	48	cd01471	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	602109.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	71	cd00198	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	602109.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	72	cd01450	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	602109.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	47	cd01469	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	602109.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	47	cd01476	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	602109.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	66	cd01472	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	602109.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	47	cd01481	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	602109.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	48	cd01473	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	602109.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	45	cd01465	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	602109.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	50	cd01482	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	602109.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	65	pfam00092	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	602109.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602109	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	OMIM	142	smart00327	11321565,NP_002372
6452	3023207	Disease	p.Pro418Leu	602104.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
6452	224994219	Disease	p.Pro418Leu	602104.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	NULL
6452	224994221	Disease	p.Pro418Leu	602104.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	NULL
6452	3023207	Disease	p.Pro418Leu	602104.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
6452	3023207	Disease	p.Pro418Arg	602104.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
6452	224994219	Disease	p.Pro418Arg	602104.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	NULL
6452	224994221	Disease	p.Pro418Arg	602104.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	NULL
6452	3023207	Disease	p.Pro418Arg	602104.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
6452	3023207	Disease	p.Pro418His	602104.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
6452	224994219	Disease	p.Pro418His	602104.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	NULL
6452	224994221	Disease	p.Pro418His	602104.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	NULL
6452	3023207	Disease	p.Pro418His	602104.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
6452	3023207	Disease	p.Arg415Pro	602104.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
6452	224994219	Disease	p.Arg415Pro	602104.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	NULL
6452	224994221	Disease	p.Arg415Pro	602104.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	NULL
6452	3023207	Disease	p.Arg415Pro	602104.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
6452	3023207	Disease	p.Arg415Gln	602104.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
6452	224994219	Disease	p.Arg415Gln	602104.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	NULL
6452	224994221	Disease	p.Arg415Gln	602104.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	NULL
6452	3023207	Disease	p.Arg415Gln	602104.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
6452	3023207	Disease	p.Gly420Arg	602104.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
6452	224994219	Disease	p.Gly420Arg	602104.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	NULL
6452	224994221	Disease	p.Gly420Arg	602104.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	NULL
6452	3023207	Disease	p.Gly420Arg	602104.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
6452	3023207	Disease	p.Gly420Glu	602104.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
6452	224994219	Disease	p.Gly420Glu	602104.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	NULL
6452	224994221	Disease	p.Gly420Glu	602104.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	NULL
6452	3023207	Disease	p.Gly420Glu	602104.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602104	CHERUBISM	OMIM	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
6899	18104952	Disease	p.Phe148Tyr	602054.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME	OMIM	43	cd00182	NULL
6899	18104952	Disease	p.Phe148Tyr	602054.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME	OMIM	38	pfam00907	NULL
6899	18104952	Disease	p.Phe148Tyr	602054.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME	OMIM	42	smart00425	NULL
6899	5174711	Disease	p.Phe148Tyr	602054.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME	OMIM	43	cd00182	NULL
6899	5174711	Disease	p.Phe148Tyr	602054.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME	OMIM	38	pfam00907	NULL
6899	5174711	Disease	p.Phe148Tyr	602054.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME	OMIM	42	smart00425	NULL
6899	6175055	Disease	p.Phe148Tyr	602054.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME	OMIM	43	cd00182	18104950,NP_542377
6899	6175055	Disease	p.Phe148Tyr	602054.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME	OMIM	38	pfam00907	18104950,NP_542377
6899	6175055	Disease	p.Phe148Tyr	602054.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME	OMIM	42	smart00425	18104950,NP_542377
6899	18104952	Disease	p.Gly310Ser	602054.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	DIGEORGE SYNDROME	OMIM	No Domain	N/A	NULL
6899	5174711	Disease	p.Gly310Ser	602054.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	DIGEORGE SYNDROME	OMIM	No Domain	N/A	NULL
6899	6175055	Disease	p.Gly310Ser	602054.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	DIGEORGE SYNDROME	OMIM	No Domain	N/A	18104950,NP_542377
6899	18104952	Disease	p.His194Gln	602054.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	VELOCARDIOFACIAL SYNDROME	OMIM	97	cd00182	NULL
6899	18104952	Disease	p.His194Gln	602054.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	VELOCARDIOFACIAL SYNDROME	OMIM	89	pfam00907	NULL
6899	18104952	Disease	p.His194Gln	602054.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	VELOCARDIOFACIAL SYNDROME	OMIM	105	smart00425	NULL
6899	5174711	Disease	p.His194Gln	602054.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	VELOCARDIOFACIAL SYNDROME	OMIM	97	cd00182	NULL
6899	5174711	Disease	p.His194Gln	602054.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	VELOCARDIOFACIAL SYNDROME	OMIM	89	pfam00907	NULL
6899	5174711	Disease	p.His194Gln	602054.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	VELOCARDIOFACIAL SYNDROME	OMIM	105	smart00425	NULL
6899	6175055	Disease	p.His194Gln	602054.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	VELOCARDIOFACIAL SYNDROME	OMIM	97	cd00182	18104950,NP_542377
6899	6175055	Disease	p.His194Gln	602054.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	VELOCARDIOFACIAL SYNDROME	OMIM	89	pfam00907	18104950,NP_542377
6899	6175055	Disease	p.His194Gln	602054.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602054	VELOCARDIOFACIAL SYNDROME	OMIM	105	smart00425	18104950,NP_542377
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	83	smart00174	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	118	smart00010	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	56	cd01865	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	57	cd04133	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	55	cd04131	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	55	cd04175	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	55	cd04173	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	55	cd04129	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	55	cd04176	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	55	cd04138	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	100	cd01860	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	55	cd01874	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	55	cd04136	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	55	cd01871	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	62	cd04111	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	50	smart00176	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	61	cd04110	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	56	cd04141	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	57	cd04115	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	58	cd01867	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	57	cd04122	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	58	cd01869	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	56	cd04145	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	73	cd01873	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	60	cd04116	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	303	cd00882	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	169	COG1100	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	59	cd01866	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	59	cd04172	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	67	cd04174	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	57	cd01875	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	62	cd04114	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	56	cd04128	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	56	cd04118	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	50	cd04126	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	142	cd04112	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	56	cd01862	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	57	cd04109	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	55	cd04142	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	80	cd04125	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	57	cd04132	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	65	cd01863	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	54	cd04130	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	59	cd04113	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	55	cd04117	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	58	cd01861	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	69	cd04127	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	56	cd04124	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	55	cd04108	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	113	cd04107	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	190	cd00154	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	57	cd04106	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	61	cd00877	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	57	cd01893	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	76	smart00175	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	77	cd04139	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	55	smart00173	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	85	cd04119	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	65	cd04123	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	59	cd04101	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	54	cd04135	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	126	cd00157	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	78	pfam08477	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	69	pfam00071	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	99	cd04146	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	54	cd04147	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	55	cd04177	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	61	cd04137	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	53	cd04144	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	55	cd04134	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	62	cd01868	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	56	cd04140	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	55	cd01870	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	105	cd01864	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	602049.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602049	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	OMIM	57	cd00876	4506381,NP_002863
7352	2497983	Disease	p.Val102Ile	602044.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602044	UCP3 POLYMORPHISM G/A||OBESITY, SEVERE, AND TYPE II DIABETES	OMIM	144	pfam00153	4507807,NP_003347
7352	13259546	Disease	p.Val102Ile	602044.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602044	UCP3 POLYMORPHISM G/A||OBESITY, SEVERE, AND TYPE II DIABETES	OMIM	144	pfam00153	NULL
7352	2497983	Disease	p.Arg70Trp	602044.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602044	OBESITY, SEVERE, AND TYPE II DIABETES	OMIM	99	pfam00153	4507807,NP_003347
7352	13259546	Disease	p.Arg70Trp	602044.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602044	OBESITY, SEVERE, AND TYPE II DIABETES	OMIM	99	pfam00153	NULL
5264	6093646	Disease	p.Arg275Trp	602026.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602026	REFSUM DISEASE, ADULT, 1	OMIM	311	pfam05721	5453884,NP_006205
5264	6093646	Disease	p.Arg275Trp	602026.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602026	REFSUM DISEASE, ADULT, 1	OMIM	276	COG5285	5453884,NP_006205
5264	83281447	Disease	p.Arg275Trp	602026.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602026	REFSUM DISEASE, ADULT, 1	OMIM	No Domain	N/A	NULL
5264	6093646	Disease	p.Asn269His	602026.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602026	REFSUM DISEASE, ADULT, 1	OMIM	303	pfam05721	5453884,NP_006205
5264	6093646	Disease	p.Asn269His	602026.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602026	REFSUM DISEASE, ADULT, 1	OMIM	269	COG5285	5453884,NP_006205
5264	83281447	Disease	p.Asn269His	602026.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602026	REFSUM DISEASE, ADULT, 1	OMIM	No Domain	N/A	NULL
5264	6093646	Disease	p.Pro29Ser	602026.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602026	REFSUM DISEASE, ADULT, 1	OMIM	No Domain	N/A	5453884,NP_006205
5264	83281447	Disease	p.Pro29Ser	602026.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602026	REFSUM DISEASE, ADULT, 1	OMIM	84	pfam05721	NULL
5264	6093646	Disease	p.Gln176Lys	602026.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602026	REFSUM DISEASE, ADULT, 1	OMIM	176	pfam05721	5453884,NP_006205
5264	6093646	Disease	p.Gln176Lys	602026.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602026	REFSUM DISEASE, ADULT, 1	OMIM	153	COG5285	5453884,NP_006205
5264	83281447	Disease	p.Gln176Lys	602026.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602026	REFSUM DISEASE, ADULT, 1	OMIM	312	pfam05721	NULL
5264	6093646	Disease	p.Gly204Ser	602026.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602026	REFSUM DISEASE, ADULT, 1	OMIM	218	pfam05721	5453884,NP_006205
5264	6093646	Disease	p.Gly204Ser	602026.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602026	REFSUM DISEASE, ADULT, 1	OMIM	195	COG5285	5453884,NP_006205
5264	83281447	Disease	p.Gly204Ser	602026.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602026	REFSUM DISEASE, ADULT, 1	OMIM	No Domain	N/A	NULL
5264	6093646	Disease	p.Arg275Gln	602026.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602026	REFSUM DISEASE, ADULT, 1	OMIM	311	pfam05721	5453884,NP_006205
5264	6093646	Disease	p.Arg275Gln	602026.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602026	REFSUM DISEASE, ADULT, 1	OMIM	276	COG5285	5453884,NP_006205
5264	83281447	Disease	p.Arg275Gln	602026.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602026	REFSUM DISEASE, ADULT, 1	OMIM	No Domain	N/A	NULL
1187	1705857	Disease	p.Cys80Trp	602024.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602024	BARTTER SYNDROME, TYPE 4B	OMIM	24	cd01036	112382220,NP_004061
1187	1705857	Disease	p.Cys80Trp	602024.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602024	BARTTER SYNDROME, TYPE 4B	OMIM	65	cd03684	112382220,NP_004061
1187	1705857	Disease	p.Cys80Trp	602024.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602024	BARTTER SYNDROME, TYPE 4B	OMIM	24	cd00400	112382220,NP_004061
1187	1705857	Disease	p.Cys80Trp	602024.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602024	BARTTER SYNDROME, TYPE 4B	OMIM	20	cd01034	112382220,NP_004061
1187	1705857	Disease	p.Cys80Trp	602024.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602024	BARTTER SYNDROME, TYPE 4B	OMIM	32	cd03683	112382220,NP_004061
1187	1705857	Disease	p.Cys80Trp	602024.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602024	BARTTER SYNDROME, TYPE 4B	OMIM	25	cd01031	112382220,NP_004061
1187	1705857	Disease	p.Cys80Trp	602024.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602024	BARTTER SYNDROME, TYPE 4B	OMIM	61	cd03685	112382220,NP_004061
1187	1705857	Disease	p.Cys80Trp	602024.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602024	BARTTER SYNDROME, TYPE 4B	OMIM	60	COG0038	112382220,NP_004061
1187	112382222	Disease	p.Cys80Trp	602024.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602024	BARTTER SYNDROME, TYPE 4B	OMIM	24	cd01036	NULL
1187	112382222	Disease	p.Cys80Trp	602024.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602024	BARTTER SYNDROME, TYPE 4B	OMIM	65	cd03684	NULL
1187	112382222	Disease	p.Cys80Trp	602024.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602024	BARTTER SYNDROME, TYPE 4B	OMIM	24	cd00400	NULL
1187	112382222	Disease	p.Cys80Trp	602024.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602024	BARTTER SYNDROME, TYPE 4B	OMIM	20	cd01034	NULL
1187	112382222	Disease	p.Cys80Trp	602024.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602024	BARTTER SYNDROME, TYPE 4B	OMIM	32	cd03683	NULL
1187	112382222	Disease	p.Cys80Trp	602024.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602024	BARTTER SYNDROME, TYPE 4B	OMIM	25	cd01031	NULL
1187	112382222	Disease	p.Cys80Trp	602024.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602024	BARTTER SYNDROME, TYPE 4B	OMIM	61	cd03685	NULL
1187	112382222	Disease	p.Cys80Trp	602024.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602024	BARTTER SYNDROME, TYPE 4B	OMIM	60	COG0038	NULL
1188	260099673	Disease	p.Pro124Leu	602023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	318	pfam00654	NULL
1188	260099673	Disease	p.Pro124Leu	602023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	268	cd03683	NULL
1188	260099673	Disease	p.Pro124Leu	602023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	300	cd01036	NULL
1188	260099673	Disease	p.Pro124Leu	602023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	321	cd00400	NULL
1188	260099673	Disease	p.Pro124Leu	602023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	369	cd03684	NULL
1188	260099673	Disease	p.Pro124Leu	602023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	306	cd03685	NULL
1188	288558843	Disease	p.Pro124Leu	602023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	121	cd03685	155969705,NP_000076
1188	288558843	Disease	p.Pro124Leu	602023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	107	cd01036	155969705,NP_000076
1188	288558843	Disease	p.Pro124Leu	602023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	187	cd03684	155969705,NP_000076
1188	288558843	Disease	p.Pro124Leu	602023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	115	cd00400	155969705,NP_000076
1188	288558843	Disease	p.Pro124Leu	602023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	38	pfam00654	155969705,NP_000076
1188	288558843	Disease	p.Pro124Leu	602023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	67	cd01034	155969705,NP_000076
1188	288558843	Disease	p.Pro124Leu	602023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	95	cd03683	155969705,NP_000076
1188	288558843	Disease	p.Pro124Leu	602023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	75	cd01031	155969705,NP_000076
1188	288558843	Disease	p.Pro124Leu	602023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	156	COG0038	155969705,NP_000076
1188	260099673	Disease	p.Ala204Thr	602023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	572	pfam00654	NULL
1188	260099673	Disease	p.Ala204Thr	602023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	354	cd03683	NULL
1188	260099673	Disease	p.Ala204Thr	602023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	468	cd01036	NULL
1188	260099673	Disease	p.Ala204Thr	602023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	430	cd00400	NULL
1188	260099673	Disease	p.Ala204Thr	602023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	461	cd03684	NULL
1188	260099673	Disease	p.Ala204Thr	602023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	377	cd03685	NULL
1188	288558843	Disease	p.Ala204Thr	602023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	205	cd03685	155969705,NP_000076
1188	288558843	Disease	p.Ala204Thr	602023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	195	cd01036	155969705,NP_000076
1188	288558843	Disease	p.Ala204Thr	602023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	267	cd03684	155969705,NP_000076
1188	288558843	Disease	p.Ala204Thr	602023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	205	cd00400	155969705,NP_000076
1188	288558843	Disease	p.Ala204Thr	602023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	159	pfam00654	155969705,NP_000076
1188	288558843	Disease	p.Ala204Thr	602023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	150	cd01034	155969705,NP_000076
1188	288558843	Disease	p.Ala204Thr	602023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	177	cd03683	155969705,NP_000076
1188	288558843	Disease	p.Ala204Thr	602023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	148	cd01031	155969705,NP_000076
1188	288558843	Disease	p.Ala204Thr	602023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	237	COG0038	155969705,NP_000076
1188	260099673	Disease	p.Arg438Cys	602023.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	60	cd04612	NULL
1188	260099673	Disease	p.Arg438Cys	602023.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	93	cd04591	NULL
1188	288558843	Disease	p.Arg438Cys	602023.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	522	cd03685	155969705,NP_000076
1188	288558843	Disease	p.Arg438Cys	602023.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	533	cd01036	155969705,NP_000076
1188	288558843	Disease	p.Arg438Cys	602023.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	519	cd03684	155969705,NP_000076
1188	288558843	Disease	p.Arg438Cys	602023.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	498	cd00400	155969705,NP_000076
1188	288558843	Disease	p.Arg438Cys	602023.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	692	pfam00654	155969705,NP_000076
1188	288558843	Disease	p.Arg438Cys	602023.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	343	cd01034	155969705,NP_000076
1188	288558843	Disease	p.Arg438Cys	602023.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	419	cd03683	155969705,NP_000076
1188	288558843	Disease	p.Arg438Cys	602023.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	380	cd01031	155969705,NP_000076
1188	288558843	Disease	p.Arg438Cys	602023.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	481	COG0038	155969705,NP_000076
1188	260099673	Disease	p.Ala349Asp	602023.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	499	cd03683	NULL
1188	260099673	Disease	p.Ala349Asp	602023.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	622	cd01036	NULL
1188	260099673	Disease	p.Ala349Asp	602023.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	59	cd02205	NULL
1188	260099673	Disease	p.Ala349Asp	602023.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	625	cd03684	NULL
1188	260099673	Disease	p.Ala349Asp	602023.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	597	cd03685	NULL
1188	288558843	Disease	p.Ala349Asp	602023.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	353	cd03685	155969705,NP_000076
1188	288558843	Disease	p.Ala349Asp	602023.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	356	cd01036	155969705,NP_000076
1188	288558843	Disease	p.Ala349Asp	602023.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	427	cd03684	155969705,NP_000076
1188	288558843	Disease	p.Ala349Asp	602023.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	378	cd00400	155969705,NP_000076
1188	288558843	Disease	p.Ala349Asp	602023.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	437	pfam00654	155969705,NP_000076
1188	288558843	Disease	p.Ala349Asp	602023.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	287	cd01034	155969705,NP_000076
1188	288558843	Disease	p.Ala349Asp	602023.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	324	cd03683	155969705,NP_000076
1188	288558843	Disease	p.Ala349Asp	602023.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	314_G	cd01031	155969705,NP_000076
1188	288558843	Disease	p.Ala349Asp	602023.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	405	COG0038	155969705,NP_000076
1188	260099673	Disease	p.Tyr432His	602023.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	54	cd04612	NULL
1188	260099673	Disease	p.Tyr432His	602023.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	231	cd02205	NULL
1188	260099673	Disease	p.Tyr432His	602023.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	74	smart00116	NULL
1188	260099673	Disease	p.Tyr432His	602023.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	87	cd04591	NULL
1188	260099673	Disease	p.Tyr432His	602023.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	119	pfam00571	NULL
1188	288558843	Disease	p.Tyr432His	602023.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	516	cd03685	155969705,NP_000076
1188	288558843	Disease	p.Tyr432His	602023.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	527	cd01036	155969705,NP_000076
1188	288558843	Disease	p.Tyr432His	602023.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	513	cd03684	155969705,NP_000076
1188	288558843	Disease	p.Tyr432His	602023.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	492	cd00400	155969705,NP_000076
1188	288558843	Disease	p.Tyr432His	602023.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	686	pfam00654	155969705,NP_000076
1188	288558843	Disease	p.Tyr432His	602023.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	339_G	cd01034	155969705,NP_000076
1188	288558843	Disease	p.Tyr432His	602023.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	413	cd03683	155969705,NP_000076
1188	288558843	Disease	p.Tyr432His	602023.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	374	cd01031	155969705,NP_000076
1188	288558843	Disease	p.Tyr432His	602023.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602023	BARTTER SYNDROME, TYPE 3	OMIM	475	COG0038	155969705,NP_000076
785	54607068	Disease	p.Cys104Phe	601949.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601949	EPILEPSY, GENERALIZED IDIOPATHIC, SUSCEPTIBILITY TO, 9||EPISODIC ATAXIA, TYPE 5	OMIM	90	smart00326	NULL
785	54607068	Disease	p.Cys104Phe	601949.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601949	EPILEPSY, GENERALIZED IDIOPATHIC, SUSCEPTIBILITY TO, 9||EPISODIC ATAXIA, TYPE 5	OMIM	76	cd00174	NULL
785	224831262	Disease	p.Cys104Phe	601949.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601949	EPILEPSY, GENERALIZED IDIOPATHIC, SUSCEPTIBILITY TO, 9||EPISODIC ATAXIA, TYPE 5	OMIM	12	smart00326	NULL
785	224831262	Disease	p.Cys104Phe	601949.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601949	EPILEPSY, GENERALIZED IDIOPATHIC, SUSCEPTIBILITY TO, 9||EPISODIC ATAXIA, TYPE 5	OMIM	9	cd00174	NULL
785	125987802	Disease	p.Cys104Phe	601949.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601949	EPILEPSY, GENERALIZED IDIOPATHIC, SUSCEPTIBILITY TO, 9||EPISODIC ATAXIA, TYPE 5	OMIM	12	smart00326	54607064,NP_000717
785	125987802	Disease	p.Cys104Phe	601949.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601949	EPILEPSY, GENERALIZED IDIOPATHIC, SUSCEPTIBILITY TO, 9||EPISODIC ATAXIA, TYPE 5	OMIM	9	cd00174	54607064,NP_000717
785	54607066	Disease	p.Cys104Phe	601949.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601949	EPILEPSY, GENERALIZED IDIOPATHIC, SUSCEPTIBILITY TO, 9||EPISODIC ATAXIA, TYPE 5	OMIM	40	smart00326	NULL
785	54607066	Disease	p.Cys104Phe	601949.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601949	EPILEPSY, GENERALIZED IDIOPATHIC, SUSCEPTIBILITY TO, 9||EPISODIC ATAXIA, TYPE 5	OMIM	33	cd00174	NULL
3892	48474260	Disease	p.Glu413Lys	601928.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601928	MONILETHRIX	OMIM	381	pfam00038	14318422,NP_002275
3892	48474260	Disease	p.Glu413Asp	601928.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601928	MONILETHRIX	OMIM	381	pfam00038	14318422,NP_002275
3892	48474260	Disease	p.Glu402Lys	601928.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601928	MONILETHRIX	OMIM	369	pfam00038	14318422,NP_002275
3892	48474260	Disease	p.Asn114Asp	601928.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601928	MONILETHRIX	OMIM	10	pfam00038	14318422,NP_002275
3892	48474260	Disease	p.Glu402Gln	601928.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601928	MONILETHRIX	OMIM	369	pfam00038	14318422,NP_002275
3892	48474260	Disease	p.Ala118Glu	601928.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601928	MONILETHRIX	OMIM	14	pfam00038	14318422,NP_002275
182	20455033	Disease	p.Arg184Cys	601920.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601920	ALAGILLE SYNDROME 1	OMIM	22	smart00051	4557679,NP_000205
182	20455033	Disease	p.Arg184Cys	601920.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601920	ALAGILLE SYNDROME 1	OMIM	22	pfam01414	4557679,NP_000205
182	20455033	Disease	p.Arg184His	601920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601920	ALAGILLE SYNDROME 1	OMIM	22	smart00051	4557679,NP_000205
182	20455033	Disease	p.Arg184His	601920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601920	ALAGILLE SYNDROME 1	OMIM	22	pfam01414	4557679,NP_000205
182	20455033	Disease	p.Gly274Asp	601920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601920	TETRALOGY OF FALLOT	OMIM	No Domain	N/A	4557679,NP_000205
182	20455033	Disease	p.Leu37Ser	601920.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601920	ALAGILLE SYNDROME 1	OMIM	7	pfam07657	4557679,NP_000205
182	20455033	Disease	p.Cys234Tyr	601920.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601920	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON	OMIM	No Domain	N/A	4557679,NP_000205
7480	20532419	Disease	p.Arg332Trp	601906.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601906	SPLIT-HAND/FOOT MALFORMATION 6	OMIM	351	smart00097	16936522,NP_003385
7480	20532419	Disease	p.Arg332Trp	601906.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601906	SPLIT-HAND/FOOT MALFORMATION 6	OMIM	691	pfam00110	16936522,NP_003385
2693	2494998	Disease	p.Ala204Glu	601898.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601898	SHORT STATURE, IDIOPATHIC, AUTOSOMAL	OMIM	168	pfam00001	38455410,NP_940799
2693	2494998	Disease	p.Ala204Glu	601898.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601898	SHORT STATURE, IDIOPATHIC, AUTOSOMAL	OMIM	241	pfam10324	38455410,NP_940799
2693	4758434	Disease	p.Ala204Glu	601898.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601898	SHORT STATURE, IDIOPATHIC, AUTOSOMAL	OMIM	168	pfam00001	NULL
2693	2494998	Disease	p.Arg237Trp	601898.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601898	SHORT STATURE, IDIOPATHIC, AUTOSOMAL	OMIM	206	pfam00001	38455410,NP_940799
2693	2494998	Disease	p.Arg237Trp	601898.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601898	SHORT STATURE, IDIOPATHIC, AUTOSOMAL	OMIM	289	pfam10324	38455410,NP_940799
2693	4758434	Disease	p.Arg237Trp	601898.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601898	SHORT STATURE, IDIOPATHIC, AUTOSOMAL	OMIM	206	pfam00001	NULL
8575	213417911	Disease	p.Arg192Glu	601881.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601881	MICROPHTHALMIA, ISOLATED 3	OMIM	No Domain	N/A	NULL
8575	213417919	Disease	p.Arg192Glu	601881.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601881	MICROPHTHALMIA, ISOLATED 3	OMIM	No Domain	N/A	NULL
8575	74735517	Disease	p.Arg192Glu	601881.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601881	MICROPHTHALMIA, ISOLATED 3	OMIM	133	smart00358	4505581,NP_003681
8575	74735517	Disease	p.Arg192Glu	601881.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601881	MICROPHTHALMIA, ISOLATED 3	OMIM	384	COG0571	4505581,NP_003681
7044	13124811	Disease	p.Ser342Lys	601877.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601877	LEFT-RIGHT AXIS MALFORMATIONS	OMIM	110	smart00204	27436881,NP_003231
7044	13124811	Disease	p.Ser342Lys	601877.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601877	LEFT-RIGHT AXIS MALFORMATIONS	OMIM	104_G	pfam00019	27436881,NP_003231
7044	289063399	Disease	p.Ser342Lys	601877.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601877	LEFT-RIGHT AXIS MALFORMATIONS	OMIM	No Domain	N/A	NULL
5352	33636742	Disease	p.Thr608Ile	601865.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601865	BRUCK SYNDROME 2	OMIM	31	smart00702	NULL
5352	62906878	Disease	p.Thr608Ile	601865.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601865	BRUCK SYNDROME 2	OMIM	72	smart00702	62739166,NP_000926
5352	33636742	Disease	p.Gly601Val	601865.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601865	BRUCK SYNDROME 2	OMIM	22	smart00702	NULL
5352	62906878	Disease	p.Gly601Val	601865.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601865	BRUCK SYNDROME 2	OMIM	53	smart00702	62739166,NP_000926
5352	33636742	Disease	p.Arg598His	601865.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601865	BRUCK SYNDROME 2	OMIM	19	smart00702	NULL
5352	62906878	Disease	p.Arg598His	601865.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601865	BRUCK SYNDROME 2	OMIM	49	smart00702	62739166,NP_000926
5993	1350587	Disease	p.Arg149Gln	601863.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601863	BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP E	OMIM	93	pfam02257	71040090,NP_001020774|4557843,NP_000440
5993	1350587	Disease	p.Arg149Gln	601863.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601863	BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP E	OMIM	93	pfam02257	71040090,NP_001020774|4557843,NP_000440
3295	1706396	Disease	p.Gly16Ser	601860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601860	D-BIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	7	pfam08659	4504505,NP_000405
3295	1706396	Disease	p.Gly16Ser	601860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601860	D-BIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	24	COG4221	4504505,NP_000405
3295	1706396	Disease	p.Gly16Ser	601860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601860	D-BIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	13	COG0300	4504505,NP_000405
3295	1706396	Disease	p.Gly16Ser	601860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601860	D-BIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	7	smart00822	4504505,NP_000405
3295	1706396	Disease	p.Gly16Ser	601860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601860	D-BIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	7	pfam00106	4504505,NP_000405
3295	1706396	Disease	p.Gly16Ser	601860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601860	D-BIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	12	COG1028	4504505,NP_000405
3295	1706396	Disease	p.Gly16Ser	601860.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601860	D-BIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	12	COG3967	4504505,NP_000405
3295	1706396	Disease	p.Asn457Tyr	601860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601860	D-BIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	No Domain	N/A	4504505,NP_000405
3295	1706396	Disease	p.Arg106Pro	601860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601860	D-BIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	154	pfam08659	4504505,NP_000405
3295	1706396	Disease	p.Arg106Pro	601860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601860	D-BIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	114	COG4221	4504505,NP_000405
3295	1706396	Disease	p.Arg106Pro	601860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601860	D-BIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	101	COG0300	4504505,NP_000405
3295	1706396	Disease	p.Arg106Pro	601860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601860	D-BIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	831	smart00822	4504505,NP_000405
3295	1706396	Disease	p.Arg106Pro	601860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601860	D-BIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	131	pfam00106	4504505,NP_000405
3295	1706396	Disease	p.Arg106Pro	601860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601860	D-BIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	221	COG1028	4504505,NP_000405
3295	1706396	Disease	p.Arg106Pro	601860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601860	D-BIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	92	COG3967	4504505,NP_000405
65266	41688789	Disease	p.Gln565Glu	601844.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601844	PSEUDOHYPOALDOSTERONISM, TYPE IIB	OMIM	364	cd05586	34365793,NP_115763
65266	41688789	Disease	p.Gln565Glu	601844.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601844	PSEUDOHYPOALDOSTERONISM, TYPE IIB	OMIM	1359	COG0515	34365793,NP_115763
65266	41688789	Disease	p.Glu562Lys	601844.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601844	PSEUDOHYPOALDOSTERONISM, TYPE IIB	OMIM	361_G	cd05586	34365793,NP_115763
65266	41688789	Disease	p.Glu562Lys	601844.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601844	PSEUDOHYPOALDOSTERONISM, TYPE IIB	OMIM	1356	COG0515	34365793,NP_115763
65266	41688789	Disease	p.Asp564Ala	601844.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601844	PSEUDOHYPOALDOSTERONISM, TYPE IIB	OMIM	363	cd05586	34365793,NP_115763
65266	41688789	Disease	p.Asp564Ala	601844.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601844	PSEUDOHYPOALDOSTERONISM, TYPE IIB	OMIM	1358	COG0515	34365793,NP_115763
65266	41688789	Disease	p.Arg1185Cys	601844.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601844	PSEUDOHYPOALDOSTERONISM, TYPE IIB	OMIM	No Domain	N/A	34365793,NP_115763
6528	12643359	Disease	p.Thr354Pro	601843.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	503	COG4147	4507035,NP_000444
6528	12643359	Disease	p.Thr354Pro	601843.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	356	COG4145	4507035,NP_000444
6528	12643359	Disease	p.Thr354Pro	601843.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	399	COG0591	4507035,NP_000444
6528	12643359	Disease	p.Thr354Pro	601843.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	348	pfam00474	4507035,NP_000444
6528	12643359	Disease	p.Thr354Pro	601843.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	345	COG4146	4507035,NP_000444
6528	12643359	Disease	p.Gln267Glu	601843.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	379	COG4147	4507035,NP_000444
6528	12643359	Disease	p.Gln267Glu	601843.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	271_G	COG4145	4507035,NP_000444
6528	12643359	Disease	p.Gln267Glu	601843.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	297	COG0591	4507035,NP_000444
6528	12643359	Disease	p.Gln267Glu	601843.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	254	pfam00474	4507035,NP_000444
6528	12643359	Disease	p.Gln267Glu	601843.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	267	COG4146	4507035,NP_000444
6528	12643359	Disease	p.Gly93Arg	601843.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	82	COG4147	4507035,NP_000444
6528	12643359	Disease	p.Gly93Arg	601843.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	82	COG4145	4507035,NP_000444
6528	12643359	Disease	p.Gly93Arg	601843.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	86	COG0591	4507035,NP_000444
6528	12643359	Disease	p.Gly93Arg	601843.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	47	pfam00474	4507035,NP_000444
6528	12643359	Disease	p.Gly93Arg	601843.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	81	COG4146	4507035,NP_000444
6528	12643359	Disease	p.Gly543Glu	601843.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	570	COG4146	4507035,NP_000444
6528	12643359	Disease	p.Gly395Arg	601843.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	546	COG4147	4507035,NP_000444
6528	12643359	Disease	p.Gly395Arg	601843.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	399	COG4145	4507035,NP_000444
6528	12643359	Disease	p.Gly395Arg	601843.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	446	COG0591	4507035,NP_000444
6528	12643359	Disease	p.Gly395Arg	601843.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	390	pfam00474	4507035,NP_000444
6528	12643359	Disease	p.Gly395Arg	601843.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601843	THYROID DYSHORMONOGENESIS 1	OMIM	387	COG4146	4507035,NP_000444
3981	88911290	Disease	p.Gly469Glu	601837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	10	cd07893	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	601837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	10	cd07972	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	601837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	478	COG1793	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	601837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	11	cd07969	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	601837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	11	cd07968	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	601837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	12	cd07967	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	601837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	10	cd07893	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	601837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	10	cd07972	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	601837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	478	COG1793	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	601837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	11	cd07969	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	601837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	11	cd07968	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	601837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	12	cd07967	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	601837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	10	cd07893	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	601837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	10	cd07972	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	601837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	478	COG1793	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	601837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	11	cd07969	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	601837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	11	cd07968	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	601837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	12	cd07967	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	52	cd07900	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	238	COG1793	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	69	cd07903	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	47	cd07898	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	38	cd07906	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	41	cd07896	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	35	cd06846	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	66	cd07907	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	46	cd07902	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	39	cd08039	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	52	pfam01068	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	54	cd07901	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	52	cd07900	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	238	COG1793	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	69	cd07903	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	47	cd07898	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	38	cd07906	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	41	cd07896	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	35	cd06846	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	66	cd07907	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	46	cd07902	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	39	cd08039	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	52	pfam01068	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	54	cd07901	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	52	cd07900	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	238	COG1793	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	69	cd07903	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	47	cd07898	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	38	cd07906	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	41	cd07896	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	35	cd06846	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	66	cd07907	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	46	cd07902	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	39	cd08039	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	52	pfam01068	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	601837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	LIG4 SYNDROME	OMIM	54	cd07901	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Ala3Val	601837.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	MULTIPLE MYELOMA, RESISTANCE TO	OMIM	No Domain	N/A	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Ala3Val	601837.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	MULTIPLE MYELOMA, RESISTANCE TO	OMIM	No Domain	N/A	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Ala3Val	601837.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	MULTIPLE MYELOMA, RESISTANCE TO	OMIM	No Domain	N/A	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Thr9Ile	601837.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	MULTIPLE MYELOMA, RESISTANCE TO	OMIM	No Domain	N/A	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Thr9Ile	601837.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	MULTIPLE MYELOMA, RESISTANCE TO	OMIM	No Domain	N/A	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Thr9Ile	601837.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601837	MULTIPLE MYELOMA, RESISTANCE TO	OMIM	No Domain	N/A	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
374291	90110040	Disease	p.Val122Met	601825.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601825	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	96	pfam01058	187281616,NP_077718
374291	90110040	Disease	p.Val122Met	601825.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601825	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	59	COG3260	187281616,NP_077718
374291	90110040	Disease	p.Val122Met	601825.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601825	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	88	COG0377	187281616,NP_077718
374291	90110040	Disease	p.Arg145His	601825.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601825	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	173	pfam01058	187281616,NP_077718
374291	90110040	Disease	p.Arg145His	601825.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601825	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	83	COG3260	187281616,NP_077718
374291	90110040	Disease	p.Arg145His	601825.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601825	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	111	COG0377	187281616,NP_077718
486	11125764	Disease	p.Gly41Arg	601814.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601814	HYPOMAGNESEMIA 2, RENAL	OMIM	33	pfam02038	NULL
486	188595665	Disease	p.Gly41Arg	601814.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601814	HYPOMAGNESEMIA 2, RENAL	OMIM	No Domain	N/A	NULL
486	20141251	Disease	p.Gly41Arg	601814.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601814	HYPOMAGNESEMIA 2, RENAL	OMIM	31	pfam02038	11125766,NP_001671
8820	12230168	Disease	p.Arg160Cys	601802.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601802	SEPTOOPTIC DYSPLASIA	OMIM	62	pfam00046	4504367,NP_003856
8820	12230168	Disease	p.Arg160Cys	601802.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601802	SEPTOOPTIC DYSPLASIA	OMIM	92	smart00389	4504367,NP_003856
8820	12230168	Disease	p.Arg160Cys	601802.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601802	SEPTOOPTIC DYSPLASIA	OMIM	84	cd00086	4504367,NP_003856
8820	12230168	Disease	p.Arg160Cys	601802.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601802	SEPTOOPTIC DYSPLASIA	OMIM	105	COG5576	4504367,NP_003856
8820	12230168	Disease	p.Ser170Leu	601802.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601802	SEPTOOPTIC DYSPLASIA, MILD	OMIM	117	COG5576	4504367,NP_003856
8820	12230168	Disease	p.Thr181Ala	601802.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601802	GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES	OMIM	149	COG5576	4504367,NP_003856
8820	12230168	Disease	p.Ile26Thr	601802.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601802	PITUITARY HORMONE DEFICIENCY, COMBINED, 5	OMIM	No Domain	N/A	4504367,NP_003856
8820	12230168	Disease	p.Glu149Lys	601802.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601802	GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES	OMIM	51	pfam00046	4504367,NP_003856
8820	12230168	Disease	p.Glu149Lys	601802.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601802	GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES	OMIM	81	smart00389	4504367,NP_003856
8820	12230168	Disease	p.Glu149Lys	601802.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601802	GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES	OMIM	73	cd00086	4504367,NP_003856
8820	12230168	Disease	p.Glu149Lys	601802.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601802	GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES	OMIM	94	COG5576	4504367,NP_003856
8820	12230168	Disease	p.Gln6His	601802.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601802	PITUITARY HORMONE DEFICIENCY, COMBINED, 5	OMIM	No Domain	N/A	4504367,NP_003856
5194	3914319	Disease	p.Ile326Thr	601789.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601789	NEONATAL ADRENOLEUKODYSTROPHY	OMIM	104	cd00174	4505723,NP_002609
5194	3914319	Disease	p.Ile326Thr	601789.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601789	NEONATAL ADRENOLEUKODYSTROPHY	OMIM	54	pfam00018	4505723,NP_002609
5194	3914319	Disease	p.Ile326Thr	601789.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601789	NEONATAL ADRENOLEUKODYSTROPHY	OMIM	134	smart00326	4505723,NP_002609
5373	3024413	Disease	p.Arg141His	601785.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	423	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Arg141His	601785.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	200	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Arg141His	601785.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	138	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Asn216Ile	601785.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	524	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Asn216Ile	601785.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	310	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Asn216Ile	601785.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	216	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Val129Met	601785.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	411	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Val129Met	601785.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	188	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Val129Met	601785.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	126	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Arg162Trp	601785.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	444	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Arg162Trp	601785.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	239	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Arg162Trp	601785.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	159	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Asp65Tyr	601785.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	309	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Asp65Tyr	601785.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	85	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Asp65Tyr	601785.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	62	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Phe119Leu	601785.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	363	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Phe119Leu	601785.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	178	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Phe119Leu	601785.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	116	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Asp188Gly	601785.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	470	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Asp188Gly	601785.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	275	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Asp188Gly	601785.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	187	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Gly117Arg	601785.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	361	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Gly117Arg	601785.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	159	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Gly117Arg	601785.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	114	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Asp223Glu	601785.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	531	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Asp223Glu	601785.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	317	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Asp223Glu	601785.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	223	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Thr237Arg	601785.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	335	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Thr237Arg	601785.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	237	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Cys241Ser	601785.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	339	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Cys241Ser	601785.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	241	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Ile132Thr	601785.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	414	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Ile132Thr	601785.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	191	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Ile132Thr	601785.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	129	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Val231Met	601785.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	325	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Val231Met	601785.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	231	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Cys9Tyr	601785.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	2	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Cys9Tyr	601785.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	6	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Leu32Arg	601785.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	222	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Leu32Arg	601785.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	44	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Leu32Arg	601785.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	4	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Thr226Ser	601785.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	548	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Thr226Ser	601785.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	320	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Thr226Ser	601785.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	226	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Pro113Leu	601785.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	357	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Pro113Leu	601785.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	155	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Pro113Leu	601785.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	110	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Val44Ala	601785.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	238	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Val44Ala	601785.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	59	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Val44Ala	601785.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601785	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia	OMIM	17	pfam03332	4557839,NP_000294
1545	48429256	Disease	p.Gly61Glu	601771.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	GLAUCOMA 3, PRIMARY CONGENITAL, A	OMIM	16	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Gly61Glu	601771.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	GLAUCOMA 3, PRIMARY CONGENITAL, A	OMIM	12	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Gly365Trp	601771.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	GLAUCOMA, PRIMARY CONGENITAL, A	OMIM	377	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Gly365Trp	601771.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	GLAUCOMA, PRIMARY CONGENITAL, A	OMIM	369	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Arg469Trp	601771.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	GLAUCOMA 3, PRIMARY CONGENITAL, A	OMIM	511	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Arg469Trp	601771.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	GLAUCOMA 3, PRIMARY CONGENITAL, A	OMIM	504	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Asp374Asn	601771.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	GLAUCOMA 3, PRIMARY CONGENITAL, A	OMIM	387	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Asp374Asn	601771.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	GLAUCOMA 3, PRIMARY CONGENITAL, A	OMIM	387	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Lys387Glu	601771.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	GLAUCOMA 3, PRIMARY CONGENITAL, A	OMIM	400	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Lys387Glu	601771.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	GLAUCOMA 3, PRIMARY CONGENITAL, A	OMIM	400	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Met1Thr	601771.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	PETERS ANOMALY	OMIM	No Domain	N/A	189491763,NP_000095
1545	48429256	Disease	p.Arg368His	601771.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	GLAUCOMA, EARLY-ONSET, DIGENIC	OMIM	380	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Arg368His	601771.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	GLAUCOMA, EARLY-ONSET, DIGENIC	OMIM	381	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Gly232Arg	601771.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	GLAUCOMA 3, PRIMARY CONGENITAL, A||GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET	OMIM	227	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Gly232Arg	601771.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	GLAUCOMA 3, PRIMARY CONGENITAL, A||GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET	OMIM	209	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Glu387Lys	601771.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	GLAUCOMA 3, PRIMARY CONGENITAL, A||GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET	OMIM	400	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Glu387Lys	601771.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	GLAUCOMA 3, PRIMARY CONGENITAL, A||GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET	OMIM	400	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Asn423Tyr	601771.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET||GLAUCOMA 3, PRIMARY CONGENITAL, A	OMIM	442	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Asn423Tyr	601771.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET||GLAUCOMA 3, PRIMARY CONGENITAL, A	OMIM	443	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Tyr81Asn	601771.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET	OMIM	43	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Tyr81Asn	601771.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601771	GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET	OMIM	38	pfam00067	189491763,NP_000095
1594	3182968	Disease	p.Gly33Asp	601769.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	No Domain	N/A	4503213,NP_000776
1594	3182968	Disease	p.Arg73Gln	601769.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	47	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Arg73Gln	601769.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	41	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Arg77Gln	601769.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	51	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Arg77Gln	601769.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	45	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Arg47Gln	601769.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	13	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Arg47Gln	601769.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	5	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Arg271Leu	601769.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	275	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Arg271Leu	601769.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	262	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Gly46Asp	601769.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	12	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Gly46Asp	601769.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	4	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.His305Gln	601769.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	323	COG2124	4503213,NP_000776
1594	3182968	Disease	p.His305Gln	601769.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	320	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Ile314Ser	601769.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	332	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Ile314Ser	601769.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	329	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Arg391Cys	601769.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	418	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Arg391Cys	601769.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	417	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Glu329Lys	601769.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	347	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Glu329Lys	601769.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	344	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Val346Met	601769.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	371	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Val346Met	601769.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601769	VITAMIN D-DEPENDENT RICKETS, TYPE 2A	OMIM	362	pfam00067	4503213,NP_000776
841	15718708	Disease	p.Arg248Trp	601763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601763	CASPASE 8 DEFICIENCY	OMIM	49	cd00032	NULL
841	15718708	Disease	p.Arg248Trp	601763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601763	CASPASE 8 DEFICIENCY	OMIM	64	smart00115	NULL
841	15718708	Disease	p.Arg248Trp	601763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601763	CASPASE 8 DEFICIENCY	OMIM	30	pfam00656	NULL
841	122056476	Disease	p.Arg248Trp	601763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601763	CASPASE 8 DEFICIENCY	OMIM	No Domain	N/A	NULL
841	122056474	Disease	p.Arg248Trp	601763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601763	CASPASE 8 DEFICIENCY	OMIM	49	cd00032	NULL
841	122056474	Disease	p.Arg248Trp	601763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601763	CASPASE 8 DEFICIENCY	OMIM	64	smart00115	NULL
841	122056474	Disease	p.Arg248Trp	601763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601763	CASPASE 8 DEFICIENCY	OMIM	30	pfam00656	NULL
841	2493531	Disease	p.Arg248Trp	601763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601763	CASPASE 8 DEFICIENCY	OMIM	27	cd00032	15718706,NP_203519
841	2493531	Disease	p.Arg248Trp	601763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601763	CASPASE 8 DEFICIENCY	OMIM	15	pfam00656	15718706,NP_203519
841	2493531	Disease	p.Arg248Trp	601763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601763	CASPASE 8 DEFICIENCY	OMIM	33	smart00115	15718706,NP_203519
841	15718712	Disease	p.Arg248Trp	601763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601763	CASPASE 8 DEFICIENCY	OMIM	No Domain	N/A	NULL
841	15718704	Disease	p.Arg248Trp	601763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601763	CASPASE 8 DEFICIENCY	OMIM	6	smart00115	NULL
841	15718704	Disease	p.Arg248Trp	601763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601763	CASPASE 8 DEFICIENCY	OMIM	7	cd00032	NULL
843	47078267	Disease	p.Leu285Phe	601762.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	OMIM	89	smart00115	NULL
843	47078267	Disease	p.Leu285Phe	601762.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	OMIM	154	pfam00656	NULL
843	47078267	Disease	p.Leu285Phe	601762.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	OMIM	75	cd00032	NULL
843	12644463	Disease	p.Leu285Phe	601762.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	OMIM	18	smart00115	47078269,NP_116756
843	12644463	Disease	p.Leu285Phe	601762.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	OMIM	14	cd00032	47078269,NP_116756
843	12644463	Disease	p.Leu285Phe	601762.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	OMIM	2	pfam00656	47078269,NP_116756
843	47078272	Disease	p.Leu285Phe	601762.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	OMIM	18	smart00115	NULL
843	47078272	Disease	p.Leu285Phe	601762.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	OMIM	14	cd00032	NULL
843	47078272	Disease	p.Leu285Phe	601762.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	OMIM	2	pfam00656	NULL
79742	193804856	Disease	p.Leu285Phe	601762.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Leu285Phe	601762.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
843	47078267	Disease	p.Ile406Leu	601762.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	OMIM	296	smart00115	NULL
843	47078267	Disease	p.Ile406Leu	601762.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	OMIM	535	pfam00656	NULL
843	47078267	Disease	p.Ile406Leu	601762.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	OMIM	240	cd00032	NULL
843	12644463	Disease	p.Ile406Leu	601762.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	OMIM	196	smart00115	47078269,NP_116756
843	12644463	Disease	p.Ile406Leu	601762.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	OMIM	175	cd00032	47078269,NP_116756
843	12644463	Disease	p.Ile406Leu	601762.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	OMIM	328	pfam00656	47078269,NP_116756
843	47078272	Disease	p.Ile406Leu	601762.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	OMIM	196	smart00115	NULL
843	47078272	Disease	p.Ile406Leu	601762.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	OMIM	175	cd00032	NULL
843	47078272	Disease	p.Ile406Leu	601762.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601762	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	OMIM	328	pfam00656	NULL
5193	3024371	Disease	p.Ser320Phe	601758.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601758	PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 3	OMIM	41	smart00184	4505721,NP_000277
5193	3024371	Disease	p.Arg91Ser	601758.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601758	PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 3	OMIM	134	pfam04757	4505721,NP_000277
5193	3024371	Disease	p.Leu317Phe	601758.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601758	PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 3	OMIM	37	smart00184	4505721,NP_000277
5191	3122596	Disease	p.Ala218Val	601757.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601757	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1	OMIM	55	pfam00400	4505731,NP_000279
5191	3122596	Disease	p.Ala218Val	601757.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601757	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1	OMIM	575	cd00200	4505731,NP_000279
5191	3122596	Disease	p.Gly217Arg	601757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601757	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1	OMIM	54	pfam00400	4505731,NP_000279
5191	3122596	Disease	p.Gly217Arg	601757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601757	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1	OMIM	574	cd00200	4505731,NP_000279
5191	3122596	Disease	p.Thr14Pro	601757.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601757	REFSUM DISEASE, ADULT, 2	OMIM	7	cd00200	4505731,NP_000279
9180	270288820	Disease	p.Ile691Thr	601743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601743	PRIMARY LOCALIZED CUTANEOUS AMYLOIDOSIS	OMIM	No Domain	N/A	NULL
9180	74724833	Disease	p.Ile691Thr	601743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601743	PRIMARY LOCALIZED CUTANEOUS AMYLOIDOSIS	OMIM	111	cd00063	4557040,NP_003990
9180	74724833	Disease	p.Ile691Thr	601743.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601743	PRIMARY LOCALIZED CUTANEOUS AMYLOIDOSIS	OMIM	148	smart00060	4557040,NP_003990
9180	270288820	Disease	p.Gly618Ala	601743.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601743	PRIMARY LOCALIZED CUTANEOUS AMYLOIDOSIS	OMIM	No Domain	N/A	NULL
9180	74724833	Disease	p.Gly618Ala	601743.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601743	PRIMARY LOCALIZED CUTANEOUS AMYLOIDOSIS	OMIM	No Domain	N/A	4557040,NP_003990
471	23831360	Disease	p.Lys426Arg	601731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601731	AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY	OMIM	463	COG0138	20127454,NP_004035
471	23831360	Disease	p.Lys426Arg	601731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601731	AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY	OMIM	598	smart00798	20127454,NP_004035
471	23831360	Disease	p.Lys426Arg	601731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601731	AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY	OMIM	338	pfam01808	20127454,NP_004035
5728	42560209	Disease	p.Gly129Glu	601728.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	COWDEN DISEASE	OMIM	146	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Gly129Glu	601728.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	COWDEN DISEASE	OMIM	241	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Gly129Glu	601728.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	COWDEN DISEASE	OMIM	241	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Ser170Arg	601728.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	BANNAYAN-RILEY-RUVALCABA SYNDROME	OMIM	188	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Ser170Arg	601728.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	BANNAYAN-RILEY-RUVALCABA SYNDROME	OMIM	359	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Ser170Arg	601728.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	BANNAYAN-RILEY-RUVALCABA SYNDROME	OMIM	359	smart00012	73765544,NP_000305
5728	42560209	Disease	p.His123Arg	601728.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	COWDEN DISEASE	OMIM	140	COG2453	73765544,NP_000305
5728	42560209	Disease	p.His123Arg	601728.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	COWDEN DISEASE	OMIM	235	smart00404	73765544,NP_000305
5728	42560209	Disease	p.His123Arg	601728.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	COWDEN DISEASE	OMIM	235	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Cys124Arg	601728.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	COWDEN DISEASE	OMIM	141	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Cys124Arg	601728.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	COWDEN DISEASE	OMIM	236	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Cys124Arg	601728.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	COWDEN DISEASE	OMIM	236	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Arg130Gln	601728.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	COWDEN DISEASE	OMIM	147	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Arg130Gln	601728.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	COWDEN DISEASE	OMIM	242	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Arg130Gln	601728.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	COWDEN DISEASE	OMIM	242	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Leu112Pro	601728.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	LHERMITTE-DUCLOS DISEASE	OMIM	129	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Leu112Pro	601728.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	LHERMITTE-DUCLOS DISEASE	OMIM	204	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Leu112Pro	601728.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	LHERMITTE-DUCLOS DISEASE	OMIM	204	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Cys124Ser	601728.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	COWDEN DISEASE	OMIM	141	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Cys124Ser	601728.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	COWDEN DISEASE	OMIM	236	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Cys124Ser	601728.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	COWDEN DISEASE	OMIM	236	smart00012	73765544,NP_000305
5728	42560209	Disease	p.His861Asp	601728.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY	OMIM	No Domain	N/A	73765544,NP_000305
5728	42560209	Disease	p.His93Arg	601728.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	MACROCEPHALY/AUTISM SYNDROME	OMIM	100	COG2453	73765544,NP_000305
5728	42560209	Disease	p.His93Arg	601728.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	MACROCEPHALY/AUTISM SYNDROME	OMIM	165	smart00404	73765544,NP_000305
5728	42560209	Disease	p.His93Arg	601728.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	MACROCEPHALY/AUTISM SYNDROME	OMIM	165	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Asp252Gly	601728.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	MACROCEPHALY/AUTISM SYNDROME	OMIM	135	pfam10409	73765544,NP_000305
5728	42560209	Disease	p.Phe241Ser	601728.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601728	MACROCEPHALY/AUTISM SYNDROME	OMIM	121	pfam10409	73765544,NP_000305
4760	121114306	Disease	p.Arg111Leu	601724.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601724	DIABETES MELLITUS, TYPE II	OMIM	13	cd00083	NULL
4760	121114306	Disease	p.Arg111Leu	601724.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601724	DIABETES MELLITUS, TYPE II	OMIM	10	pfam00010	NULL
4760	121114306	Disease	p.Arg111Leu	601724.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601724	DIABETES MELLITUS, TYPE II	OMIM	5	smart00353	NULL
9496	51338786	Disease	p.Gly248Val	601719.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601719	SMALL PATELLA SYNDROME	OMIM	297	smart00425	18129690,NP_060958
9496	51338786	Disease	p.Gly248Val	601719.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601719	SMALL PATELLA SYNDROME	OMIM	212	cd00182	18129690,NP_060958
9496	51338786	Disease	p.Gly248Val	601719.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601719	SMALL PATELLA SYNDROME	OMIM	202	pfam00907	18129690,NP_060958
9496	51338786	Disease	p.Gln531Arg	601719.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601719	SMALL PATELLA SYNDROME	OMIM	No Domain	N/A	18129690,NP_060958
6813	188528901	Disease	p.Pro477Leu	601717.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601717	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL 5	OMIM	1490	pfam00995	NULL
6813	188528901	Disease	p.Pro477Leu	601717.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601717	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL 5	OMIM	594	COG5158	NULL
6813	188528689	Disease	p.Pro477Leu	601717.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601717	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL 5	OMIM	1486	pfam00995	NULL
6813	188528689	Disease	p.Pro477Leu	601717.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601717	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL 5	OMIM	591	COG5158	NULL
6813	188528901	Disease	p.Leu209Pro	601717.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601717	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL 5	OMIM	637	pfam00995	NULL
6813	188528901	Disease	p.Leu209Pro	601717.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601717	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL 5	OMIM	252	COG5158	NULL
6813	188528689	Disease	p.Leu209Pro	601717.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601717	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL 5	OMIM	618	pfam00995	NULL
6813	188528689	Disease	p.Leu209Pro	601717.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601717	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL 5	OMIM	248	COG5158	NULL
7045	2498193	Disease	p.Arg555Trp	601692.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, GROENOUW TYPE I	OMIM	34	smart00554	4507467,NP_000349
7045	2498193	Disease	p.Arg555Trp	601692.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, GROENOUW TYPE I	OMIM	138	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Arg555Trp	601692.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, GROENOUW TYPE I	OMIM	85	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Arg555Gln	601692.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE	OMIM	34	smart00554	4507467,NP_000349
7045	2498193	Disease	p.Arg555Gln	601692.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE	OMIM	138	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Arg555Gln	601692.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE	OMIM	85	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Arg124Cys	601692.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, LATTICE TYPE I	OMIM	11	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Arg124His	601692.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, AVELLINO TYPE	OMIM	11	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Pro501Thr	601692.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, LATTICE TYPE IIIA	OMIM	47	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Arg124Leu	601692.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE	OMIM	11	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Arg124Ser	601692.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, GROENOUW TYPE I	OMIM	11	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Pro551Gln	601692.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, LATTICE TYPE I	OMIM	18	smart00554	4507467,NP_000349
7045	2498193	Disease	p.Pro551Gln	601692.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, LATTICE TYPE I	OMIM	134	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Pro551Gln	601692.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, LATTICE TYPE I	OMIM	80	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Phe540Ser	601692.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, LATTICE TYPE IIIA	OMIM	3	smart00554	4507467,NP_000349
7045	2498193	Disease	p.Phe540Ser	601692.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, LATTICE TYPE IIIA	OMIM	123	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Phe540Ser	601692.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, LATTICE TYPE IIIA	OMIM	58	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Gly623Asp	601692.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE	OMIM	209	smart00554	4507467,NP_000349
7045	2498193	Disease	p.Gly623Asp	601692.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE	OMIM	392	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Gly623Asp	601692.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE	OMIM	209	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Leu509Arg	601692.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE	OMIM	72	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Arg666Ser	601692.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601692	CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE	OMIM	No Domain	N/A	4507467,NP_000349
24	6707663	Disease	p.Gly863Ala	601691.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	282	COG4987	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	601691.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	267_G	COG4615	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	601691.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	195	COG5265	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	601691.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	464	COG2274	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	601691.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	789	COG1132	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	601691.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	252	COG4988	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	356	COG4987	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	61	COG1119	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	335	COG4615	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	267	COG5265	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	542	COG2274	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	6	COG4619	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	6	COG3839	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	7	COG4525	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	6	COG1122	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	10	COG4107	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	18	COG1129	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	6	COG0488	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	6	COG1116	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	8	COG3842	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	6	COG1124	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	6	COG3638	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	1064	COG1132	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	37	COG1134	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	15	COG1123	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	9	COG4598	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	11	COG4181	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	13	cd03234	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	22	COG1127	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	5	COG4161	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	4	cd03257	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	5	cd03296	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	12	COG1136	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	4	COG2884	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	4	COG1135	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	4	cd03258	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	4	COG1125	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	4	COG1131	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	4	COG4559	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03251	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03223	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03219	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	9	cd03369	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03231	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03216	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03260	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	4	COG4555	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03294	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03253	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03229	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03250	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03221	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03228	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03290	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03255	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03292	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03246	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03230	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03262	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03256	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03217	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	4	cd03266	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03220	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03267	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03301	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03268	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03247	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03259	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03264	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03269	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03263	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03265	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03252	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03295	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03293	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03300	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	5	COG4136	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	4	COG4604	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	4	COG1101	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03218	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	3	cd03261	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	5	COG1120	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	10	COG1137	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	5	COG1126	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	5	cd03213	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	5	cd03244	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	5	COG4133	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	7	COG4608	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	7	COG4175	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	10	COG1117	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	5	COG1118	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	7	COG1121	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	7	COG3845	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	5	COG4152	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	8	COG0411	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	42	cd03291	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	7	COG4167	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	2	cd03226	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	2	cd03225	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	2	cd00267	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	2	cd03235	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	2	cd03214	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	6	COG0396	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	335	COG4988	105990541,NP_000341
24	6707663	Disease	p.Val931Met	601691.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	40	COG4586	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	114	smart00382	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	452	COG4987	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	177	cd03249	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	112	cd03224	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	104	cd03254	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	120	COG0410	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	170	COG1119	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	425	COG4615	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	122	cd03233	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	369	COG5265	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	640	COG2274	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	101	COG4619	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	131	COG3839	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	105	COG4525	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	442	COG1122	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	115	COG4107	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	133	COG1129	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	128	COG0488	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	111	COG1116	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	248	COG3842	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	144	COG1124	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	124	COG3638	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	1297	COG1132	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	97	COG4138	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	837	cd03227	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	131	COG1134	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	168	COG1123	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	119	COG4598	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	96	cd03299	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	115	COG4181	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	129	cd03234	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	125	COG1127	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	95	cd03298	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	113	cd03297	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	96	COG3840	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	109	COG4161	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	278	cd03257	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	100	cd03296	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	136	COG1136	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	105	COG2884	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	119	COG1135	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	116	cd03258	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	105	COG1125	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	147	COG1131	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	100	COG4559	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	108	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	126	COG4674	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	106_G	cd03222	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	103	cd03251	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	145	cd03223	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	108	cd03219	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	120	cd03369	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	98	cd03231	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	123	cd03216	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	116	cd03260	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	104	COG4555	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	133	cd03294	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	131	cd03253	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	143	cd03229	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	197	cd03250	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	114	cd03221	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	220	cd03228	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	117	cd03290	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	124	cd03255	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	104	cd03292	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	103	cd03246	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	131	cd03230	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	117	cd03262	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	118	cd03256	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	105	cd03217	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	113	cd03266	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	130	cd03220	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	123	cd03267	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	126	cd03301	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	102	cd03268	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	106	cd03247	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	130	cd03259	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	122	cd03264	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	96	cd03269	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	153	cd03263	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	98	cd03265	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	97_G	cd03252	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	101	cd03295	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	131	cd03293	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	101	cd03300	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	105	COG4136	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	104	COG4604	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	106	COG1101	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	102	cd03218	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	104	cd03261	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	228	cd03215	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	162	COG1120	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	107	COG1137	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	125	COG1126	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	121	cd03213	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	138	cd03244	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	105	COG4133	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	707	COG4608	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	141	COG4175	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	122	COG1117	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	122	COG1118	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	113	COG1121	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	106	COG3845	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	97	COG4152	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	138	COG0411	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	110_G	cd03248	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	262	COG0444	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	116	cd03245	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	130	cd03291	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	100	COG4148	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	114	COG4167	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	125	cd03226	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	140	cd03225	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	246	cd00267	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	105	cd03235	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	169	cd03214	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	132	COG0396	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	433_G	COG4988	105990541,NP_000341
24	6707663	Disease	p.Ala1028Val	601691.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	146	COG4586	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	104	smart00382	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	94	COG4555	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	103	cd03266	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	264	cd03257	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	133	cd03229	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	217	cd03228	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	105	cd03219	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	103	cd03236	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	114	cd03255	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	121	cd03230	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	98	COG4161	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	143	cd03263	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	88	cd03265	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	120	cd03216	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	90	cd03296	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	112	cd03264	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	92	cd03268	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	120	cd03259	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	92	cd03269	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	116	cd03301	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	432	COG1122	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	119	cd03234	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	87	COG4152	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	95	COG4133	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	141	COG1120	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	98	COG1121	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	225	cd03215	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	115	COG4778	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	137	COG1131	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	145	COG1119	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	117	COG4107	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	137	cd03225	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	236	cd00267	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	122	cd03226	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	100	cd03235	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	150	cd03214	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	106	cd03232	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	601691.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	70	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	227	smart00382	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	117	COG4555	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	126	cd03266	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	289	cd03257	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	156	cd03229	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	234	cd03228	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	155	cd03219	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	123_G	cd03236	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	146	cd03255	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	144	cd03230	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	122	COG4161	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	166	cd03263	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	111	cd03265	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	150	cd03216	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	117	cd03296	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	136	cd03264	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	120	cd03268	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	145	cd03259	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	109	cd03269	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	178	cd03301	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	457	COG1122	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	145	cd03234	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	110	COG4152	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	122	COG4133	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	176	COG1120	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	134	COG1121	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	248	cd03215	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	131	COG4778	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	168	COG1131	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	184	COG1119	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	139	COG4107	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	153	cd03225	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	1249	cd00267	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	140	cd03226	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	129	cd03235	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	182	cd03214	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	132	cd03232	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	601691.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	198	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Asp2177Asn	601691.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO	OMIM	251	cd03236	105990541,NP_000341
24	6707663	Disease	p.Asp2177Asn	601691.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO	OMIM	751	COG1122	105990541,NP_000341
24	6707663	Disease	p.Asp2177Asn	601691.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO	OMIM	234	COG4152	105990541,NP_000341
24	6707663	Disease	p.Asp2177Asn	601691.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO	OMIM	376	COG1120	105990541,NP_000341
24	6707663	Disease	p.Asp2177Asn	601691.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO	OMIM	270	COG1121	105990541,NP_000341
24	6707663	Disease	p.Asp2177Asn	601691.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO	OMIM	329	COG1131	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	27	COG4555	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	36	cd03266	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	39	cd03257	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	46	cd03229	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	56	cd03228	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	22	cd03219	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	22_G	cd03236	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	28	cd03255	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	45	cd03230	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	24	COG4161	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	49	cd03263	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	22	cd03265	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	32	cd03216	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	25	cd03296	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	43	cd03264	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	23	cd03268	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	46	cd03259	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	22	cd03269	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	45	cd03301	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	31	COG1122	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	36	cd03234	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	24	COG4152	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	28	COG4133	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	29	COG1120	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	28	COG1121	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	53	cd03215	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	33	COG4778	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	50	COG1131	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	74	COG1119	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	29	COG4107	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	39	cd03225	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	55	cd00267	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	24	cd03226	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	23	cd03235	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	37	cd03214	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	601691.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	14	cd03232	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	222	smart00382	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	460	COG4987	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	185	cd03249	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	128	cd03224	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	112	cd03254	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	128	COG0410	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	179	COG1119	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	433	COG4615	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	130	cd03233	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	377	COG5265	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	649	COG2274	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	111	COG4619	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	369	COG3839	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	113	COG4525	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	450	COG1122	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	123	COG4107	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	154	COG1129	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	146	COG0488	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	126	COG1116	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	342	COG3842	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	214	COG1124	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	132	COG3638	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	1327	COG1132	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	107	COG4138	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	845	cd03227	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	139	COG1134	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	187	COG1123	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	127	COG4598	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	106	cd03299	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	124	COG4181	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	138	cd03234	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	134	COG1127	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	103	cd03298	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	124	cd03297	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	104	COG3840	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	117	COG4161	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	286	cd03257	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	112	cd03296	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	148	COG1136	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	113	COG2884	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	141	COG1135	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	126	cd03258	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	113	COG1125	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	163	COG1131	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	108	COG4559	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	193	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	134	COG4674	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	114	cd03222	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	122	cd03251	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	153	cd03223	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	150	cd03219	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	128	cd03369	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	106	cd03231	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	145	cd03216	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	124	cd03260	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	112	COG4555	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	141	cd03294	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	139	cd03253	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	151	cd03229	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	216	cd03250	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	228	cd03221	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	228	cd03228	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	125	cd03290	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	132	cd03255	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	112	cd03292	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	107	cd03246	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	139	cd03230	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	125	cd03262	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	126	cd03256	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	113	cd03217	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	121	cd03266	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	138	cd03220	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	131	cd03267	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	173	cd03301	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	114	cd03268	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	113	cd03247	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	140	cd03259	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	130	cd03264	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	104	cd03269	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	161	cd03263	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	106	cd03265	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	105	cd03252	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	109	cd03295	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	150	cd03293	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	109	cd03300	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	113	COG4136	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	110	COG4604	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	122	COG1101	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	116	cd03218	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	112	cd03261	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	236	cd03215	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	171	COG1120	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	115	COG1137	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	133	COG1126	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	131	cd03213	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	146	cd03244	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	113	COG4133	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	715	COG4608	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	149	COG4175	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	130	COG1117	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	136	COG1118	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	128	COG1121	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	127	COG3845	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	105	COG4152	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	178	COG0411	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	118	cd03248	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	434	COG0444	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	120_G	cd03245	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	138	cd03291	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	107_G	COG4148	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	122	COG4167	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	134	cd03226	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	148	cd03225	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	254	cd00267	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	124	cd03235	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	177	cd03214	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	140	COG0396	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	435	COG4988	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	601691.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	154	COG4586	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	7	smart00382	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	36	COG4555	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	45	cd03266	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	48	cd03257	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	55	cd03229	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	65	cd03228	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	33	cd03219	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	31	cd03236	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	44	cd03255	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	55	cd03230	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	33	COG4161	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	59	cd03263	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	31	cd03265	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	41	cd03216	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	34	cd03296	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	52	cd03264	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	32	cd03268	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	55	cd03259	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	31	cd03269	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	54	cd03301	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	40	COG1122	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	45	cd03234	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	33	COG4152	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	37	COG4133	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	39	COG1120	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	38	COG1121	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	62	cd03215	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	42	COG4778	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	60	COG1131	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	83	COG1119	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	38	COG4107	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	48	cd03225	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	88	cd00267	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	33	cd03226	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	33	cd03235	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	47	cd03214	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	601691.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	48	cd03232	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	8	smart00382	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	37	COG4555	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	46	cd03266	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	49	cd03257	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	56	cd03229	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	66	cd03228	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	34	cd03219	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	32	cd03236	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	45	cd03255	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	56	cd03230	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	34	COG4161	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	60	cd03263	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	32	cd03265	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	42	cd03216	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	35	cd03296	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	53	cd03264	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	33	cd03268	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	56	cd03259	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	32	cd03269	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	55	cd03301	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	41	COG1122	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	46	cd03234	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	34	COG4152	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	38	COG4133	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	40	COG1120	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	39	COG1121	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	63	cd03215	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	43	COG4778	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	61	COG1131	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	84	COG1119	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	39	COG4107	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	49	cd03225	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	89	cd00267	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	34	cd03226	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	34	cd03235	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	48	cd03214	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	601691.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS	OMIM	49	cd03232	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	224	smart00382	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	467	COG4987	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	187	cd03249	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	130	cd03224	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	118	cd03254	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	130	COG0410	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	181	COG1119	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	435	COG4615	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	132	cd03233	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	379	COG5265	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	651	COG2274	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	113	COG4619	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	371	COG3839	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	115	COG4525	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	454	COG1122	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	128	COG4107	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	156	COG1129	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	148	COG0488	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	128	COG1116	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	344	COG3842	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	216	COG1124	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	134	COG3638	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	1329	COG1132	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	109	COG4138	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	847	cd03227	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	141	COG1134	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	189	COG1123	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	129	COG4598	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	108	cd03299	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	126	COG4181	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	140	cd03234	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	136	COG1127	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	105	cd03298	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	126	cd03297	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	106	COG3840	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	119	COG4161	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	288	cd03257	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	114	cd03296	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	150	COG1136	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	115	COG2884	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	143	COG1135	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	128	cd03258	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	115	COG1125	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	165	COG1131	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	110	COG4559	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	195	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	136	COG4674	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	116	cd03222	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	124	cd03251	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	155	cd03223	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	152	cd03219	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	130	cd03369	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	108	cd03231	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	147	cd03216	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	139	cd03260	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	114	COG4555	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	143	cd03294	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	139_G	cd03253	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	153	cd03229	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	218	cd03250	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	230	cd03221	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	230	cd03228	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	127	cd03290	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	143	cd03255	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	114	cd03292	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	109	cd03246	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	141	cd03230	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	127	cd03262	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	128	cd03256	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	115	cd03217	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	123	cd03266	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	140	cd03220	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	133	cd03267	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	175	cd03301	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	116	cd03268	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	115	cd03247	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	142	cd03259	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	132	cd03264	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	106	cd03269	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	163	cd03263	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	108	cd03265	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	107	cd03252	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	111	cd03295	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	152	cd03293	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	111	cd03300	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	113_G	COG4136	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	112	COG4604	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	124	COG1101	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	118	cd03218	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	114	cd03261	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	238	cd03215	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	173	COG1120	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	121	COG1137	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	135	COG1126	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	133	cd03213	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	149	cd03244	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	115	COG4133	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	717	COG4608	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	151	COG4175	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	143	COG1117	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	138	COG1118	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	130	COG1121	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	129	COG3845	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	107	COG4152	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	180	COG0411	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	136	cd03248	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	436	COG0444	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	120_G	cd03245	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	140	cd03291	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	109	COG4148	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	124	COG4167	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	135_G	cd03226	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	150	cd03225	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	1246	cd00267	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	126	cd03235	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	179	cd03214	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	181	COG0396	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	438	COG4988	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	601691.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||CONE-ROD DYSTROPHY 3	OMIM	156	COG4586	105990541,NP_000341
24	6707663	Disease	p.Tyr340Asp	601691.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg212Cys	601691.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg18Trp	601691.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg572Gln	601691.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	97	COG2274	105990541,NP_000341
24	6707663	Disease	p.Leu541Pro	601691.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	61	COG2274	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	601691.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	CONE-ROD DYSTROPHY 3	OMIM	599	COG3839	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	601691.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	CONE-ROD DYSTROPHY 3	OMIM	352	COG1129	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	601691.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	CONE-ROD DYSTROPHY 3	OMIM	465	COG0488	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	601691.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	CONE-ROD DYSTROPHY 3	OMIM	533	COG3842	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	601691.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	CONE-ROD DYSTROPHY 3	OMIM	467	COG1123	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	601691.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	CONE-ROD DYSTROPHY 3	OMIM	348	COG1135	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	601691.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	CONE-ROD DYSTROPHY 3	OMIM	355	COG1125	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	601691.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	CONE-ROD DYSTROPHY 3	OMIM	364	COG1131	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	601691.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	CONE-ROD DYSTROPHY 3	OMIM	924	COG4608	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	601691.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	CONE-ROD DYSTROPHY 3	OMIM	329	COG4175	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	601691.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	CONE-ROD DYSTROPHY 3	OMIM	314	COG1118	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	601691.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	CONE-ROD DYSTROPHY 3	OMIM	425	COG3845	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	601691.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	CONE-ROD DYSTROPHY 3	OMIM	294	COG4152	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	601691.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	CONE-ROD DYSTROPHY 3	OMIM	630	COG0444	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	601691.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	CONE-ROD DYSTROPHY 3	OMIM	316	COG4148	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	601691.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	CONE-ROD DYSTROPHY 3	OMIM	323	COG4586	105990541,NP_000341
24	6707663	Disease	p.Pro1380Leu	601691.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE	OMIM	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ala1762Asp	601691.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	CONE-ROD DYSTROPHY 3||STARGARDT DISEASE 1	OMIM	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	4	COG4555	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	4	cd03266	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	4	cd03257	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	3	cd03229	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	3	cd03228	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	3	cd03219	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	3	cd03236	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	3	cd03255	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	3	cd03230	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	5	COG4161	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	3	cd03263	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	3	cd03265	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	3	cd03216	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	5	cd03296	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	3	cd03264	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	3	cd03268	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	3	cd03259	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	3	cd03269	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	3	cd03301	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	6	COG1122	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	6	cd03234	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	5	COG4152	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	5	COG4133	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	5	COG1120	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	7	COG1121	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	7	cd03215	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	7	COG4778	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	7	COG1131	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	55	COG1119	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	10	COG4107	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	2	cd03225	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	2	cd00267	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	2	cd03226	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	2	cd03235	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	601691.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3	OMIM	2	cd03214	105990541,NP_000341
24	6707663	Disease	p.Pro1780Ala	601691.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	STARGARDT DISEASE 1	OMIM	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	368	COG4987	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	16	cd03249	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	12	cd03224	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	16	cd03254	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	17	COG0410	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	65	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	348	COG4615	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	279	COG5265	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	554	COG2274	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	16	COG4619	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	18	COG3839	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	24	COG4525	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	22	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	20	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	30	COG1129	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	18	COG0488	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	22	COG1116	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	29	COG3842	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	27	COG1124	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	19	COG3638	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	1166	COG1132	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	7	cd03227	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	57	COG1134	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	29	COG1123	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	18	COG4598	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	22	COG4181	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	27	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	34	COG1127	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	12	cd03298	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	9	cd03297	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	13	COG3840	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	15	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	16	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	16	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	30	COG1136	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	16	COG2884	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	17	COG1135	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	16	cd03258	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	19	COG1125	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	41	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	14	COG4559	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	26	COG4674	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	8	cd03222	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	18	cd03251	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	29	cd03223	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	13_G	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	21	cd03369	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	13	cd03231	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	23	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	17	cd03260	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	19	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	15	cd03294	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	34	cd03253	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	37	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	85	cd03250	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	19	cd03221	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	47	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	15	cd03290	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	19	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	15	cd03292	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	18	cd03246	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	15	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	15	cd03262	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	16	cd03256	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	13	cd03217	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	16	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	55	cd03220	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	34	cd03267	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	36	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	14	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	15	cd03247	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	15	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	34	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	13	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	40	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	13	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	16	cd03252	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	15	cd03295	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	20	cd03293	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	17	cd03300	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	16	COG4136	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	14	COG4604	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	19	COG1101	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	13	cd03218	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	13	cd03261	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	12	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	20	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	20	COG1137	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	22	COG1126	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	29	cd03213	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	19	cd03244	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	15	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	19	COG4608	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	35	COG4175	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	24	COG1117	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	15	COG1118	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	17	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	19	COG3845	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	16_G	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	19_G	COG0411	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	24	cd03248	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	23	COG0444	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	19	cd03245	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	50	cd03291	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	12	COG4148	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	23	COG4167	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	15	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	30	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	46	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	14	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	28	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	25	COG0396	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	347	COG4988	105990541,NP_000341
24	6707663	Disease	p.Arg943Gln	601691.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601691	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1	OMIM	50	COG4586	105990541,NP_000341
7941	2497687	Disease	p.Val279Phe	601690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601690	PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY	OMIM	275	pfam03403	270133071,NP_001161829|189095271,NP_005075
7941	2497687	Disease	p.Val279Phe	601690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601690	PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY	OMIM	275	pfam03403	270133071,NP_001161829|189095271,NP_005075
7941	2497687	Disease	p.Ile198Thr	601690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601690	ASTHMA AND ATOPY, SUSCEPTIBILITY TO	OMIM	175	pfam03403	270133071,NP_001161829|189095271,NP_005075
7941	2497687	Disease	p.Ile198Thr	601690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601690	ASTHMA AND ATOPY, SUSCEPTIBILITY TO	OMIM	175	pfam03403	270133071,NP_001161829|189095271,NP_005075
7941	2497687	Disease	p.Ala379Val	601690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601690	ASTHMA AND ATOPY, SUSCEPTIBILITY TO	OMIM	411	pfam03403	270133071,NP_001161829|189095271,NP_005075
7941	2497687	Disease	p.Ala379Val	601690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601690	ASTHMA AND ATOPY, SUSCEPTIBILITY TO	OMIM	411	pfam03403	270133071,NP_001161829|189095271,NP_005075
3248	224922801	Disease	p.Ala140Pro	601688.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601688	CRANIOOSTEOARTHROPATHY	OMIM	195	pfam00106	NULL
3248	224922801	Disease	p.Ala140Pro	601688.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601688	CRANIOOSTEOARTHROPATHY	OMIM	162	COG4221	NULL
3248	224922801	Disease	p.Ala140Pro	601688.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601688	CRANIOOSTEOARTHROPATHY	OMIM	143	COG3967	NULL
3248	224922801	Disease	p.Ala140Pro	601688.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601688	CRANIOOSTEOARTHROPATHY	OMIM	396	COG1028	NULL
3248	224922801	Disease	p.Ala140Pro	601688.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601688	CRANIOOSTEOARTHROPATHY	OMIM	162	COG0300	NULL
3248	224922801	Disease	p.Ala140Pro	601688.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601688	CRANIOOSTEOARTHROPATHY	OMIM	205	pfam08659	NULL
3248	129889	Disease	p.Ala140Pro	601688.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601688	CRANIOOSTEOARTHROPATHY	OMIM	195	pfam00106	31542939,NP_000851
3248	129889	Disease	p.Ala140Pro	601688.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601688	CRANIOOSTEOARTHROPATHY	OMIM	949	smart00822	31542939,NP_000851
3248	129889	Disease	p.Ala140Pro	601688.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601688	CRANIOOSTEOARTHROPATHY	OMIM	162	COG4221	31542939,NP_000851
3248	129889	Disease	p.Ala140Pro	601688.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601688	CRANIOOSTEOARTHROPATHY	OMIM	189	COG0623	31542939,NP_000851
3248	129889	Disease	p.Ala140Pro	601688.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601688	CRANIOOSTEOARTHROPATHY	OMIM	396	COG1028	31542939,NP_000851
3248	129889	Disease	p.Ala140Pro	601688.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601688	CRANIOOSTEOARTHROPATHY	OMIM	143	COG3967	31542939,NP_000851
3248	129889	Disease	p.Ala140Pro	601688.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601688	CRANIOOSTEOARTHROPATHY	OMIM	162	COG0300	31542939,NP_000851
3248	129889	Disease	p.Ala140Pro	601688.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601688	CRANIOOSTEOARTHROPATHY	OMIM	205	pfam08659	31542939,NP_000851
3248	224922801	Disease	p.Ser193Pro	601688.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601688	DIGITAL CLUBBING, ISOLATED CONGENITAL	OMIM	No Domain	N/A	NULL
3248	129889	Disease	p.Ser193Pro	601688.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601688	DIGITAL CLUBBING, ISOLATED CONGENITAL	OMIM	215	COG4221	31542939,NP_000851
3248	129889	Disease	p.Ser193Pro	601688.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601688	DIGITAL CLUBBING, ISOLATED CONGENITAL	OMIM	310	COG0623	31542939,NP_000851
3248	129889	Disease	p.Ser193Pro	601688.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601688	DIGITAL CLUBBING, ISOLATED CONGENITAL	OMIM	546	COG1028	31542939,NP_000851
3248	129889	Disease	p.Ser193Pro	601688.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601688	DIGITAL CLUBBING, ISOLATED CONGENITAL	OMIM	196	COG3967	31542939,NP_000851
3248	129889	Disease	p.Ser193Pro	601688.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601688	DIGITAL CLUBBING, ISOLATED CONGENITAL	OMIM	230	COG0300	31542939,NP_000851
3859	2497269	Disease	p.Arg135Thr	601687.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601687	MEESMANN CORNEAL DYSTROPHY	OMIM	12	pfam00038	4557699,NP_000214
3859	2497269	Disease	p.Val143Leu	601687.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601687	MEESMANN CORNEAL DYSTROPHY	OMIM	20	pfam00038	4557699,NP_000214
3859	2497269	Disease	p.Arg135Gly	601687.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601687	MEESMANN CORNEAL DYSTROPHY	OMIM	12	pfam00038	4557699,NP_000214
3859	2497269	Disease	p.Arg135Ile	601687.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601687	MEESMANN CORNEAL DYSTROPHY	OMIM	12	pfam00038	4557699,NP_000214
3859	2497269	Disease	p.Tyr429Asp	601687.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601687	MEESMANN CORNEAL DYSTROPHY	OMIM	373	pfam00038	4557699,NP_000214
3859	2497269	Disease	p.Leu140Arg	601687.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601687	MEESMANN CORNEAL DYSTROPHY	OMIM	17	pfam00038	4557699,NP_000214
3859	2497269	Disease	p.Met129Thr	601687.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601687	MEESMANN CORNEAL DYSTROPHY	OMIM	6	pfam00038	4557699,NP_000214
23020	56405304	Disease	p.Ser1087Leu	601664.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601664	RETINITIS PIGMENTOSA 33	OMIM	240	pfam02889	40217847,NP_054733
23020	56405304	Disease	p.Ser1087Leu	601664.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601664	RETINITIS PIGMENTOSA 33	OMIM	853	COG1202	40217847,NP_054733
23020	56405304	Disease	p.Ser1087Leu	601664.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601664	RETINITIS PIGMENTOSA 33	OMIM	156	smart00611	40217847,NP_054733
23020	56405304	Disease	p.Ser1087Leu	601664.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601664	RETINITIS PIGMENTOSA 33	OMIM	1243	COG1204	40217847,NP_054733
2138	3183005	Disease	p.Arg407Gln	601653.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	BRANCHIOOTORENAL SYNDROME 1	OMIM	172	pfam00702	26667216,NP_742055|19923100,NP_000494
2138	26667219	Disease	p.Arg407Gln	601653.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	BRANCHIOOTORENAL SYNDROME 1	OMIM	254	pfam00702	NULL
2138	3183005	Disease	p.Arg407Gln	601653.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	BRANCHIOOTORENAL SYNDROME 1	OMIM	172	pfam00702	26667216,NP_742055|19923100,NP_000494
2138	26667222	Disease	p.Arg407Gln	601653.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	BRANCHIOOTORENAL SYNDROME 1	OMIM	252	pfam00702	NULL
2138	3183005	Disease	p.Arg514Gly	601653.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	ANTERIOR SEGMENT ANOMALIES AND CATARACT	OMIM	349	pfam00702	26667216,NP_742055|19923100,NP_000494
2138	26667219	Disease	p.Arg514Gly	601653.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	ANTERIOR SEGMENT ANOMALIES AND CATARACT	OMIM	432	pfam00702	NULL
2138	3183005	Disease	p.Arg514Gly	601653.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	ANTERIOR SEGMENT ANOMALIES AND CATARACT	OMIM	349	pfam00702	26667216,NP_742055|19923100,NP_000494
2138	26667222	Disease	p.Arg514Gly	601653.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	ANTERIOR SEGMENT ANOMALIES AND CATARACT	OMIM	430	pfam00702	NULL
2138	3183005	Disease	p.Glu330Lys	601653.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	ANTERIOR SEGMENT ANOMALIES	OMIM	9	pfam00702	26667216,NP_742055|19923100,NP_000494
2138	26667219	Disease	p.Glu330Lys	601653.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	ANTERIOR SEGMENT ANOMALIES	OMIM	14	pfam00702	NULL
2138	3183005	Disease	p.Glu330Lys	601653.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	ANTERIOR SEGMENT ANOMALIES	OMIM	9	pfam00702	26667216,NP_742055|19923100,NP_000494
2138	26667222	Disease	p.Glu330Lys	601653.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	ANTERIOR SEGMENT ANOMALIES	OMIM	119	pfam00702	NULL
2138	3183005	Disease	p.Gly393Ser	601653.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	BRANCHIOOTORENAL SYNDROME WITH CATARACT	OMIM	158	pfam00702	26667216,NP_742055|19923100,NP_000494
2138	26667219	Disease	p.Gly393Ser	601653.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	BRANCHIOOTORENAL SYNDROME WITH CATARACT	OMIM	240	pfam00702	NULL
2138	3183005	Disease	p.Gly393Ser	601653.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	BRANCHIOOTORENAL SYNDROME WITH CATARACT	OMIM	158	pfam00702	26667216,NP_742055|19923100,NP_000494
2138	26667222	Disease	p.Gly393Ser	601653.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	BRANCHIOOTORENAL SYNDROME WITH CATARACT	OMIM	238	pfam00702	NULL
2138	3183005	Disease	p.Ser454Pro	601653.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	BRANCHIOOTORENAL SYNDROME 1	OMIM	266	pfam00702	26667216,NP_742055|19923100,NP_000494
2138	26667219	Disease	p.Ser454Pro	601653.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	BRANCHIOOTORENAL SYNDROME 1	OMIM	304	pfam00702	NULL
2138	3183005	Disease	p.Ser454Pro	601653.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	BRANCHIOOTORENAL SYNDROME 1	OMIM	266	pfam00702	26667216,NP_742055|19923100,NP_000494
2138	26667222	Disease	p.Ser454Pro	601653.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	BRANCHIOOTORENAL SYNDROME 1	OMIM	302	pfam00702	NULL
2138	3183005	Disease	p.Leu472Arg	601653.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	BRANCHIOOTORENAL SYNDROME 1	OMIM	284	pfam00702	26667216,NP_742055|19923100,NP_000494
2138	26667219	Disease	p.Leu472Arg	601653.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	BRANCHIOOTORENAL SYNDROME 1	OMIM	342	pfam00702	NULL
2138	3183005	Disease	p.Leu472Arg	601653.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	BRANCHIOOTORENAL SYNDROME 1	OMIM	284	pfam00702	26667216,NP_742055|19923100,NP_000494
2138	26667222	Disease	p.Leu472Arg	601653.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601653	BRANCHIOOTORENAL SYNDROME 1	OMIM	340	pfam00702	NULL
4653	3024209	Disease	p.Tyr437His	601652.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	207	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Tyr437His	601652.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	254	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Gly357Val	601652.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	127	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Gly357Val	601652.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	163	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Pro370Leu	601652.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	140	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Pro370Leu	601652.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	179	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Ile477Ser	601652.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	253	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Ile477Ser	601652.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	307	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Asn480Lys	601652.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	256	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Asn480Lys	601652.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	310	pfam02191	4557779,NP_000252
79742	193804856	Disease	p.Asn480Lys	601652.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	MOVED TO 601652.0004	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Asn480Lys	601652.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	MOVED TO 601652.0004	OMIM	No Domain	N/A	193804854,NP_789789
4653	3024209	Disease	p.Gly367Arg	601652.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	137	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Gly367Arg	601652.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	176	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Gln337Arg	601652.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	107	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Gln337Arg	601652.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	131	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Lys423Glu	601652.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	193	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Lys423Glu	601652.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	240	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Cys433Arg	601652.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	203	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Cys433Arg	601652.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	250	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Gly399Val	601652.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A, DIGENIC	OMIM	169	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Gly399Val	601652.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A, DIGENIC	OMIM	208	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Gln48His	601652.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A||GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC	OMIM	No Domain	N/A	4557779,NP_000252
4653	3024209	Disease	p.Cys245Tyr	601652.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	No Domain	N/A	4557779,NP_000252
4653	3024209	Disease	p.Gly252Arg	601652.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	7	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Gly252Arg	601652.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	6	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Asp380His	601652.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	150	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Asp380His	601652.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	189	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Ile477Asn	601652.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	253	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Ile477Asn	601652.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601652	GLAUCOMA 1, OPEN ANGLE, A	OMIM	307	pfam02191	4557779,NP_000252
6606	13259512	Disease	p.Gly287Arg	601627.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601627	SPINAL MUSCULAR ATROPHY, MODIFIER OF	OMIM	No Domain	N/A	NULL
6606	2498924	Disease	p.Gly287Arg	601627.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601627	SPINAL MUSCULAR ATROPHY, MODIFIER OF	OMIM	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
7337	19718762	Disease	p.Thr106Pro	601623.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601623	ANGELMAN SYNDROME	OMIM	70	COG5021	NULL
7337	19718764	Disease	p.Thr106Pro	601623.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601623	ANGELMAN SYNDROME	OMIM	82	COG5021	NULL
7337	215274240	Disease	p.Thr106Pro	601623.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601623	ANGELMAN SYNDROME	OMIM	79	COG5021	19718766,NP_000453
7337	19718762	Disease	p.Ile130Thr	601623.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601623	ANGELMAN SYNDROME	OMIM	93_G	COG5021	NULL
7337	19718764	Disease	p.Ile130Thr	601623.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601623	ANGELMAN SYNDROME	OMIM	106	COG5021	NULL
7337	215274240	Disease	p.Ile130Thr	601623.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601623	ANGELMAN SYNDROME	OMIM	103	COG5021	19718766,NP_000453
7291	2498009	Disease	p.Gln119Pro	601622.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601622	SAETHRE-CHOTZEN SYNDROME	OMIM	11	pfam00010	4507741,NP_000465
7291	2498009	Disease	p.Gln119Pro	601622.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601622	SAETHRE-CHOTZEN SYNDROME	OMIM	14	cd00083	4507741,NP_000465
7291	2498009	Disease	p.Gln119Pro	601622.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601622	SAETHRE-CHOTZEN SYNDROME	OMIM	9	smart00353	4507741,NP_000465
7291	2498009	Disease	p.Leu135Pro	601622.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601622	SAETHRE-CHOTZEN SYNDROME	OMIM	28	pfam00010	4507741,NP_000465
7291	2498009	Disease	p.Leu135Pro	601622.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601622	SAETHRE-CHOTZEN SYNDROME	OMIM	30	cd00083	4507741,NP_000465
7291	2498009	Disease	p.Leu135Pro	601622.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601622	SAETHRE-CHOTZEN SYNDROME	OMIM	26	smart00353	4507741,NP_000465
7291	2498009	Disease	p.Ile156Val	601622.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601622	SAETHRE-CHOTZEN SYNDROME	OMIM	89	pfam00010	4507741,NP_000465
7291	2498009	Disease	p.Ile156Val	601622.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601622	SAETHRE-CHOTZEN SYNDROME	OMIM	85	cd00083	4507741,NP_000465
7291	2498009	Disease	p.Ile156Val	601622.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601622	SAETHRE-CHOTZEN SYNDROME	OMIM	123	smart00353	4507741,NP_000465
7291	2498009	Disease	p.Ala186Thr	601622.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601622	CRANIOSYNOSTOSIS, TYPE 1	OMIM	No Domain	N/A	4507741,NP_000465
7291	2498009	Disease	p.Ser188Leu	601622.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601622	CRANIOSYNOSTOSIS, TYPE 1	OMIM	No Domain	N/A	4507741,NP_000465
6910	12644474	Disease	p.Arg237Gln	601620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	214	cd00182	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Arg237Gln	601620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	299	smart00425	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Arg237Gln	601620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	204	pfam00907	31652232,NP_852259|18201892,NP_000183
6910	18201896	Disease	p.Arg237Gln	601620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	214	cd00182	NULL
6910	18201896	Disease	p.Arg237Gln	601620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	299	smart00425	NULL
6910	18201896	Disease	p.Arg237Gln	601620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	204	pfam00907	NULL
6910	18201894	Disease	p.Arg237Gln	601620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	No Domain	N/A	NULL
6910	12644474	Disease	p.Arg237Gln	601620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	214	cd00182	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Arg237Gln	601620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	299	smart00425	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Arg237Gln	601620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	204	pfam00907	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Gly80Arg	601620.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	31	cd00182	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Gly80Arg	601620.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	30	smart00425	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Gly80Arg	601620.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	26	pfam00907	31652232,NP_852259|18201892,NP_000183
6910	18201896	Disease	p.Gly80Arg	601620.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	31	cd00182	NULL
6910	18201896	Disease	p.Gly80Arg	601620.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	30	smart00425	NULL
6910	18201896	Disease	p.Gly80Arg	601620.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	26	pfam00907	NULL
6910	18201894	Disease	p.Gly80Arg	601620.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	98	smart00425	NULL
6910	18201894	Disease	p.Gly80Arg	601620.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	89	cd00182	NULL
6910	18201894	Disease	p.Gly80Arg	601620.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	82	pfam00907	NULL
6910	12644474	Disease	p.Gly80Arg	601620.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	31	cd00182	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Gly80Arg	601620.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	30	smart00425	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Gly80Arg	601620.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	26	pfam00907	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Arg237Trp	601620.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	214	cd00182	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Arg237Trp	601620.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	299	smart00425	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Arg237Trp	601620.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	204	pfam00907	31652232,NP_852259|18201892,NP_000183
6910	18201896	Disease	p.Arg237Trp	601620.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	214	cd00182	NULL
6910	18201896	Disease	p.Arg237Trp	601620.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	299	smart00425	NULL
6910	18201896	Disease	p.Arg237Trp	601620.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	204	pfam00907	NULL
6910	18201894	Disease	p.Arg237Trp	601620.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	No Domain	N/A	NULL
6910	12644474	Disease	p.Arg237Trp	601620.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	214	cd00182	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Arg237Trp	601620.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	299	smart00425	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Arg237Trp	601620.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	204	pfam00907	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Gln49Lys	601620.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	No Domain	N/A	31652232,NP_852259|18201892,NP_000183
6910	18201896	Disease	p.Gln49Lys	601620.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	No Domain	N/A	NULL
6910	18201894	Disease	p.Gln49Lys	601620.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	53	smart00425	NULL
6910	18201894	Disease	p.Gln49Lys	601620.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	54	cd00182	NULL
6910	18201894	Disease	p.Gln49Lys	601620.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	49	pfam00907	NULL
6910	12644474	Disease	p.Gln49Lys	601620.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	No Domain	N/A	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Ile54Thr	601620.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	2	cd00182	31652232,NP_852259|18201892,NP_000183
6910	18201896	Disease	p.Ile54Thr	601620.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	2	cd00182	NULL
6910	18201894	Disease	p.Ile54Thr	601620.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	58	smart00425	NULL
6910	18201894	Disease	p.Ile54Thr	601620.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	59	cd00182	NULL
6910	18201894	Disease	p.Ile54Thr	601620.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	54	pfam00907	NULL
6910	12644474	Disease	p.Ile54Thr	601620.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601620	HOLT-ORAM SYNDROME	OMIM	2	cd00182	31652232,NP_852259|18201892,NP_000183
54345	12644232	Disease	p.Ala104Pro	601618.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601618	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME	OMIM	21	cd01388	8924248,NP_060889
54345	12644232	Disease	p.Ala104Pro	601618.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601618	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME	OMIM	21	cd01389	8924248,NP_060889
54345	12644232	Disease	p.Ala104Pro	601618.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601618	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME	OMIM	21	smart00398	8924248,NP_060889
54345	12644232	Disease	p.Ala104Pro	601618.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601618	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME	OMIM	20	pfam00505	8924248,NP_060889
54345	12644232	Disease	p.Ala104Pro	601618.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601618	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME	OMIM	20	cd00084	8924248,NP_060889
54345	12644232	Disease	p.Ala104Pro	601618.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601618	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME	OMIM	20	cd01390	8924248,NP_060889
54345	12644232	Disease	p.Trp95Arg	601618.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601618	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME	OMIM	12	cd01388	8924248,NP_060889
54345	12644232	Disease	p.Trp95Arg	601618.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601618	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME	OMIM	12	cd01389	8924248,NP_060889
54345	12644232	Disease	p.Trp95Arg	601618.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601618	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME	OMIM	12	smart00398	8924248,NP_060889
54345	12644232	Disease	p.Trp95Arg	601618.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601618	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME	OMIM	11	pfam00505	8924248,NP_060889
54345	12644232	Disease	p.Trp95Arg	601618.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601618	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME	OMIM	11	cd00084	8924248,NP_060889
54345	12644232	Disease	p.Trp95Arg	601618.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601618	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME	OMIM	11	cd01390	8924248,NP_060889
5959	2492753	Disease	p.Gly238Trp	601617.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	241	COG3967	50726952,NP_002896
5959	2492753	Disease	p.Gly238Trp	601617.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	586	COG1028	50726952,NP_002896
5959	2492753	Disease	p.Gly238Trp	601617.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	253	COG0300	50726952,NP_002896
5959	2492753	Disease	p.Ser73Phe	601617.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	47	COG3967	50726952,NP_002896
5959	2492753	Disease	p.Ser73Phe	601617.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	77	COG1028	50726952,NP_002896
5959	2492753	Disease	p.Ser73Phe	601617.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	62	COG4221	50726952,NP_002896
5959	2492753	Disease	p.Ser73Phe	601617.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	56	COG0300	50726952,NP_002896
5959	2492753	Disease	p.Ser73Phe	601617.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	74	pfam00106	50726952,NP_002896
5959	2492753	Disease	p.Ser73Phe	601617.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	94	pfam08659	50726952,NP_002896
5959	2492753	Disease	p.Arg280His	601617.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	299	COG0300	50726952,NP_002896
5959	2492753	Disease	p.Ala294Pro	601617.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	50726952,NP_002896
5959	2492753	Disease	p.Val177Gly	601617.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	156	COG3967	50726952,NP_002896
5959	2492753	Disease	p.Val177Gly	601617.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	481	COG1028	50726952,NP_002896
5959	2492753	Disease	p.Val177Gly	601617.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	175	COG4221	50726952,NP_002896
5959	2492753	Disease	p.Val177Gly	601617.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	176	COG0300	50726952,NP_002896
5959	2492753	Disease	p.Val177Gly	601617.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	208	pfam00106	50726952,NP_002896
5959	2492753	Disease	p.Val177Gly	601617.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	221	pfam08659	50726952,NP_002896
5959	2492753	Disease	p.Tyr281His	601617.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	300	COG0300	50726952,NP_002896
5959	2492753	Disease	p.Leu310Gly	601617.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	50726952,NP_002896
5959	2492753	Disease	p.Arg157Trp	601617.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	135	COG3967	50726952,NP_002896
5959	2492753	Disease	p.Arg157Trp	601617.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	388	COG1028	50726952,NP_002896
5959	2492753	Disease	p.Arg157Trp	601617.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	154	COG4221	50726952,NP_002896
5959	2492753	Disease	p.Arg157Trp	601617.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	154	COG0300	50726952,NP_002896
5959	2492753	Disease	p.Arg157Trp	601617.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	187	pfam00106	50726952,NP_002896
5959	2492753	Disease	p.Arg157Trp	601617.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601617	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE	OMIM	197	pfam08659	50726952,NP_002896
21	85700402	Disease	p.Leu101Pro	601615.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	No Domain	N/A	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	176_G	cd03222	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	192	COG4107	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	1330	cd00267	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	214	cd03225	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	187	cd03235	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	347	smart00382	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	195	cd03226	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	252	cd03214	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	222	cd03234	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	262	cd03213	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	238	COG1131	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	448	cd03257	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	215	COG1136	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	546	COG4618	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	191	COG4778	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	244	COG1119	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	193	COG1121	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	178	COG2884	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	169	COG4152	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	176	cd03296	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	237	COG1120	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	181	COG4161	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	525	COG1122	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	346	cd03228	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	223	cd03229	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	290	cd03221	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	215	cd03216	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	195	cd03224	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	170	cd03265	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	238	cd03263	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	187	cd03261	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	176	COG4555	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	183	cd03218	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	215	cd03293	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	215	cd03219	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	237	cd03301	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	185	cd03266	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	175	cd03268	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	207	cd03259	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	168	cd03269	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	195	cd03264	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	208	cd03255	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	601615.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	209	cd03230	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	216	cd03222	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	230	COG4107	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	226	cd03235	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	675	smart00382	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	233	cd03226	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	322	cd03214	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	329	cd03234	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	325	cd03213	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	287	COG1131	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	493	cd03257	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	254	COG1136	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	583	COG4618	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	232	COG4778	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	284	COG1119	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	232	COG1121	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	216	COG2884	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	207	COG4152	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	215	cd03296	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	310	COG1120	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	219	COG4161	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	564	COG1122	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	255	cd03216	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	235	cd03224	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	209	cd03265	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	301	cd03263	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	235	cd03261	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	214	COG4555	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	222	cd03218	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	265	cd03293	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	256	cd03219	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	276	cd03301	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	226	cd03266	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	214	cd03268	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	250	cd03259	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	206	cd03269	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	233	cd03264	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	249	cd03255	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	601615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	252	cd03230	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	41	cd03245	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	62	cd03227	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	56	COG1127	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	41	COG4598	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	52	cd03232	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	55	cd03233	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	49	cd03248	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	42	COG4107	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	42	COG1137	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	46	COG1117	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	34	COG3840	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	51	cd03213	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	52	COG1129	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	46	COG4172	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	87	COG1119	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	48	COG4167	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	69	COG4175	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	47	COG4181	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	56	COG1123	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	41	COG3845	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	60	COG4608	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	64	COG1131	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	37	cd03290	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	45	cd03297	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	38	COG4619	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	390	COG4987	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	33	COG4148	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	33	cd03298	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	37	cd03226	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	51	cd03214	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	37	cd03235	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	38	COG4136	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	92	cd00267	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	52	cd03225	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	34	COG4138	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	48	COG4674	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	1215	COG1132	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	66	cd03215	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	52	COG1136	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	45	COG0444	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	40	COG0411	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	41	COG1125	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	52	cd03257	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	43	COG1135	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	36	COG4559	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	43	cd03258	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	34	cd03237	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	35	cd03231	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	577	COG2274	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	372	COG4615	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	12	smart00382	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	49	COG1124	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	61	COG3839	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	40	COG0488	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	44	COG1116	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	39	COG0410	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	52	COG3842	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	42	COG4170	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	79	COG1134	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	41	COG3638	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	47	COG0396	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	46	COG4525	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	72	COG4586	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	370	COG4988	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	41	COG1101	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	37	cd03219	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	51	cd03223	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	39	cd03300	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	35	cd03218	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	40	COG4555	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	64	cd03294	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	38	cd03256	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	34	cd03299	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	40	cd03251	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	43	cd03369	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	37	cd03292	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	42	cd03293	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	59	cd03230	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	40	cd03246	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	37	cd03262	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	48	cd03255	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	36	COG4604	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	37	cd03295	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	37	cd03261	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	37	cd03217	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	107	cd03250	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	41	cd03221	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	69	cd03228	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	59	cd03229	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	56	cd03253	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	37	cd03224	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	35	cd03265	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	63	cd03263	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	45	cd03216	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	38	cd03252	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	44	COG1122	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	39	cd03260	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	37	cd03247	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	49	cd03234	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	59	cd03259	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	49	cd03266	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	35	cd03269	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	36	cd03268	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	56	cd03264	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	58	cd03301	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	77	cd03220	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	56	cd03267	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	38	cd03249	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	41	cd03244	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	53	COG1118	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	43	COG1120	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	39	cd03289	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	41	COG4133	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	38	cd03254	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	38	cd03296	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	37	COG4161	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	47	COG1126	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	42	COG1121	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	601615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	37	COG4152	116734710,NP_001080
21	85700402	Disease	p.Leu326Pro	601615.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	108	COG4987	116734710,NP_001080
21	85700402	Disease	p.Leu326Pro	601615.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	342	COG1132	116734710,NP_001080
21	85700402	Disease	p.Leu326Pro	601615.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	254	COG2274	116734710,NP_001080
21	85700402	Disease	p.Leu326Pro	601615.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	76	COG4615	116734710,NP_001080
21	85700402	Disease	p.Leu326Pro	601615.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601615	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	OMIM	24	COG4988	116734710,NP_001080
3030	20141376	Disease	p.Ala28Thr	601609.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601609	3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	No Domain	N/A	20127408,NP_000173
3030	20141376	Disease	p.Asp45Glu	601609.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601609	3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	11	COG1024	20127408,NP_000173
3030	20141376	Disease	p.Asp45Glu	601609.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601609	3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	5	cd06558	20127408,NP_000173
3030	20141376	Disease	p.Pro258Leu	601609.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601609	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4	OMIM	321	COG1024	20127408,NP_000173
3030	20141376	Disease	p.Pro258Leu	601609.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601609	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4	OMIM	321	COG1024	20127408,NP_000173
6598	55956801	Disease	p.Glu31Val	601607.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601607	SCHWANNOMATOSIS	OMIM	No Domain	N/A	NULL
6598	51338799	Disease	p.Glu31Val	601607.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601607	SCHWANNOMATOSIS	OMIM	No Domain	N/A	27545326,NP_003064
3594	24497440	Disease	p.Arg213Trp	601604.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601604	MYCOBACTERIAL AND SALMONELLA INFECTIONS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
3594	1170462	Disease	p.Arg213Trp	601604.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601604	MYCOBACTERIAL AND SALMONELLA INFECTIONS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	5031785,NP_005526
3594	24497440	Disease	p.Cys198Arg	601604.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601604	MYCOBACTERIAL INFECTIONS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
3594	1170462	Disease	p.Cys198Arg	601604.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601604	MYCOBACTERIAL INFECTIONS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	5031785,NP_005526
7021	152031557	Disease	p.Ala264Asp	601601.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601601	CHAR SYNDROME	OMIM	37	pfam03299	118582289,NP_003212
7021	152031557	Disease	p.Arg289Cys	601601.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601601	CHAR SYNDROME	OMIM	62	pfam03299	118582289,NP_003212
7021	152031557	Disease	p.Arg225Cys	601601.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601601	CHAR SYNDROME	OMIM	No Domain	N/A	118582289,NP_003212
7021	152031557	Disease	p.Arg225Ser	601601.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601601	CHAR SYNDROME	OMIM	No Domain	N/A	118582289,NP_003212
7021	152031557	Disease	p.Arg274Gln	601601.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601601	CHAR SYNDROME	OMIM	47	pfam03299	118582289,NP_003212
7021	152031557	Disease	p.Pro62Arg	601601.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601601	CHAR SYNDROME	OMIM	No Domain	N/A	118582289,NP_003212
5913	145559521	Disease	p.Asn88Lys	601592.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	174	COG0457	15619013,NP_005046
5913	38045928	Disease	p.Asn88Lys	601592.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	No Domain	N/A	NULL
5913	145559521	Disease	p.Leu14Pro	601592.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	14	COG0457	15619013,NP_005046
5913	145559521	Disease	p.Leu14Pro	601592.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	14	pfam10579	15619013,NP_005046
5913	38045928	Disease	p.Leu14Pro	601592.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	14	pfam10579	NULL
5913	145559521	Disease	p.Leu283Pro	601592.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	704	COG0457	15619013,NP_005046
5913	38045928	Disease	p.Leu283Pro	601592.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	No Domain	N/A	NULL
5913	145559521	Disease	p.Arg164Cys	601592.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	63	cd00189	15619013,NP_005046
5913	145559521	Disease	p.Arg164Cys	601592.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	316	COG0457	15619013,NP_005046
5913	38045928	Disease	p.Arg164Cys	601592.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	63	cd00189	NULL
5913	145559521	Disease	p.Val45Met	601592.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	78	COG0457	15619013,NP_005046
5913	145559521	Disease	p.Val45Met	601592.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	45	pfam10579	15619013,NP_005046
5913	38045928	Disease	p.Val45Met	601592.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	45	pfam10579	NULL
5913	145559521	Disease	p.Glu162Lys	601592.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	61	cd00189	15619013,NP_005046
5913	145559521	Disease	p.Glu162Lys	601592.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	314	COG0457	15619013,NP_005046
5913	38045928	Disease	p.Glu162Lys	601592.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	61	cd00189	NULL
5913	145559521	Disease	p.Phe139Ser	601592.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	FETAL AKINESIA DEFORMATION SEQUENCE	OMIM	24	cd00189	15619013,NP_005046
5913	145559521	Disease	p.Phe139Ser	601592.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	FETAL AKINESIA DEFORMATION SEQUENCE	OMIM	273	COG0457	15619013,NP_005046
5913	38045928	Disease	p.Phe139Ser	601592.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	FETAL AKINESIA DEFORMATION SEQUENCE	OMIM	24	cd00189	NULL
5913	145559521	Disease	p.Ala189Val	601592.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	FETAL AKINESIA DEFORMATION SEQUENCE	OMIM	116	cd00189	15619013,NP_005046
5913	145559521	Disease	p.Ala189Val	601592.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	FETAL AKINESIA DEFORMATION SEQUENCE	OMIM	395	COG0457	15619013,NP_005046
5913	38045928	Disease	p.Ala189Val	601592.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601592	FETAL AKINESIA DEFORMATION SEQUENCE	OMIM	116	cd00189	NULL
7476	145559540	Disease	p.Arg292Cys	601570.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601570	ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY	OMIM	351	smart00097	17505191,NP_004616
7476	145559540	Disease	p.Arg292Cys	601570.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601570	ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY	OMIM	691	pfam00110	17505191,NP_004616
7476	145559540	Disease	p.Ala109Thr	601570.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601570	FUHRMANN SYNDROME	OMIM	81	smart00097	17505191,NP_004616
7476	145559540	Disease	p.Ala109Thr	601570.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601570	FUHRMANN SYNDROME	OMIM	164	pfam00110	17505191,NP_004616
3998	22261801	Disease	p.Met1Thr	601567.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601567	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1	OMIM	No Domain	N/A	5031873,NP_005561
5645	136413	Disease	p.Gly191Arg	601564.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601564	PANCREATITIS, CHRONIC, PROTECTION AGAINST	OMIM	275	pfam00089	4506147,NP_002761
5645	136413	Disease	p.Gly191Arg	601564.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601564	PANCREATITIS, CHRONIC, PROTECTION AGAINST	OMIM	322	cd00190	4506147,NP_002761
5645	136413	Disease	p.Gly191Arg	601564.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601564	PANCREATITIS, CHRONIC, PROTECTION AGAINST	OMIM	476	smart00020	4506147,NP_002761
2202	9973182	Disease	p.Arg345Trp	601548.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601548	MALATTIA LEVENTINESE||DOYNE HONEYCOMB RETINAL DYSTROPHY	OMIM	26	smart00179	86788132,NP_001034438|9665262,NP_004096|86788015,NP_001034437
2202	9973182	Disease	p.Arg345Trp	601548.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601548	MALATTIA LEVENTINESE||DOYNE HONEYCOMB RETINAL DYSTROPHY	OMIM	26	cd00054	86788132,NP_001034438|9665262,NP_004096|86788015,NP_001034437
2202	9973182	Disease	p.Arg345Trp	601548.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601548	MALATTIA LEVENTINESE||DOYNE HONEYCOMB RETINAL DYSTROPHY	OMIM	18	pfam07645	86788132,NP_001034438|9665262,NP_004096|86788015,NP_001034437
2202	9973182	Disease	p.Arg345Trp	601548.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601548	MALATTIA LEVENTINESE||DOYNE HONEYCOMB RETINAL DYSTROPHY	OMIM	26	smart00179	86788132,NP_001034438|9665262,NP_004096|86788015,NP_001034437
2202	9973182	Disease	p.Arg345Trp	601548.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601548	MALATTIA LEVENTINESE||DOYNE HONEYCOMB RETINAL DYSTROPHY	OMIM	26	cd00054	86788132,NP_001034438|9665262,NP_004096|86788015,NP_001034437
2202	9973182	Disease	p.Arg345Trp	601548.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601548	MALATTIA LEVENTINESE||DOYNE HONEYCOMB RETINAL DYSTROPHY	OMIM	18	pfam07645	86788132,NP_001034438|9665262,NP_004096|86788015,NP_001034437
2202	9973182	Disease	p.Arg345Trp	601548.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601548	MALATTIA LEVENTINESE||DOYNE HONEYCOMB RETINAL DYSTROPHY	OMIM	26	smart00179	86788132,NP_001034438|9665262,NP_004096|86788015,NP_001034437
2202	9973182	Disease	p.Arg345Trp	601548.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601548	MALATTIA LEVENTINESE||DOYNE HONEYCOMB RETINAL DYSTROPHY	OMIM	26	cd00054	86788132,NP_001034438|9665262,NP_004096|86788015,NP_001034437
2202	9973182	Disease	p.Arg345Trp	601548.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601548	MALATTIA LEVENTINESE||DOYNE HONEYCOMB RETINAL DYSTROPHY	OMIM	18	pfam07645	86788132,NP_001034438|9665262,NP_004096|86788015,NP_001034437
5048	1170794	Disease	p.His149Arg	601545.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	LISSENCEPHALY 1	OMIM	23	smart00320	4557741,NP_000421
5048	1170794	Disease	p.His149Arg	601545.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	LISSENCEPHALY 1	OMIM	118	cd00200	4557741,NP_000421
5048	1170794	Disease	p.His149Arg	601545.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	LISSENCEPHALY 1	OMIM	426	COG2319	4557741,NP_000421
5048	1170794	Disease	p.His149Arg	601545.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	LISSENCEPHALY 1	OMIM	11	pfam00400	4557741,NP_000421
5048	1170794	Disease	p.Ser169Pro	601545.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	SUBCORTICAL LAMINAR HETEROTOPIA	OMIM	101	smart00320	4557741,NP_000421
5048	1170794	Disease	p.Ser169Pro	601545.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	SUBCORTICAL LAMINAR HETEROTOPIA	OMIM	164	cd00200	4557741,NP_000421
5048	1170794	Disease	p.Ser169Pro	601545.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	SUBCORTICAL LAMINAR HETEROTOPIA	OMIM	480	COG2319	4557741,NP_000421
5048	1170794	Disease	p.Ser169Pro	601545.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	SUBCORTICAL LAMINAR HETEROTOPIA	OMIM	55	pfam00400	4557741,NP_000421
5048	1170794	Disease	p.Asp317His	601545.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	LISSENCEPHALY 1	OMIM	59	pfam00400	4557741,NP_000421
5048	1170794	Disease	p.Asp317His	601545.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	LISSENCEPHALY 1	OMIM	589	cd00200	4557741,NP_000421
5048	1170794	Disease	p.Asp317His	601545.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	LISSENCEPHALY 1	OMIM	942	COG2319	4557741,NP_000421
5048	1170794	Disease	p.Asp317His	601545.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	LISSENCEPHALY 1	OMIM	105	smart00320	4557741,NP_000421
5048	1170794	Disease	p.Phe31Ser	601545.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	LISSENCEPHALY 1	OMIM	26	smart00667	4557741,NP_000421
5048	1170794	Disease	p.Phe31Ser	601545.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	LISSENCEPHALY 1	OMIM	23	pfam08513	4557741,NP_000421
5048	1170794	Disease	p.Phe31Ser	601545.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	LISSENCEPHALY 1	OMIM	28	COG2319	4557741,NP_000421
5048	1170794	Disease	p.Gly162Ser	601545.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	LISSENCEPHALY 1	OMIM	52	smart00320	4557741,NP_000421
5048	1170794	Disease	p.Gly162Ser	601545.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	LISSENCEPHALY 1	OMIM	151	cd00200	4557741,NP_000421
5048	1170794	Disease	p.Gly162Ser	601545.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	LISSENCEPHALY 1	OMIM	460	COG2319	4557741,NP_000421
5048	1170794	Disease	p.Gly162Ser	601545.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	LISSENCEPHALY 1	OMIM	48	pfam00400	4557741,NP_000421
5048	1170794	Disease	p.Arg241Pro	601545.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	SUBCORTICAL LAMINAR HETEROTOPIA	OMIM	391	cd00200	4557741,NP_000421
5048	1170794	Disease	p.Arg241Pro	601545.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	SUBCORTICAL LAMINAR HETEROTOPIA	OMIM	705	COG2319	4557741,NP_000421
5048	1170794	Disease	p.Arg241Pro	601545.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	SUBCORTICAL LAMINAR HETEROTOPIA	OMIM	19	pfam00400	4557741,NP_000421
5048	1170794	Disease	p.Arg241Pro	601545.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	SUBCORTICAL LAMINAR HETEROTOPIA	OMIM	47	smart00320	4557741,NP_000421
5048	1170794	Disease	p.His277Pro	601545.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	LISSENCEPHALY 1	OMIM	13	pfam00400	4557741,NP_000421
5048	1170794	Disease	p.His277Pro	601545.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	LISSENCEPHALY 1	OMIM	521	cd00200	4557741,NP_000421
5048	1170794	Disease	p.His277Pro	601545.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	LISSENCEPHALY 1	OMIM	794	COG2319	4557741,NP_000421
5048	1170794	Disease	p.His277Pro	601545.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601545	LISSENCEPHALY 1	OMIM	25	smart00320	4557741,NP_000421
5308	21361183	Disease	p.Leu54Gln	601542.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	15	COG5576	NULL
5308	6174907	Disease	p.Leu54Gln	601542.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	22	COG5576	24234708,NP_700475
5308	24234711	Disease	p.Leu54Gln	601542.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	66	COG5576	NULL
5308	24234711	Disease	p.Leu54Gln	601542.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	15	cd00086	NULL
5308	24234711	Disease	p.Leu54Gln	601542.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	20	smart00389	NULL
5308	24234711	Disease	p.Leu54Gln	601542.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	15	pfam00046	NULL
5308	21361183	Disease	p.Thr68Pro	601542.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	29	COG5576	NULL
5308	6174907	Disease	p.Thr68Pro	601542.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	36	COG5576	24234708,NP_700475
5308	24234711	Disease	p.Thr68Pro	601542.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	80	COG5576	NULL
5308	24234711	Disease	p.Thr68Pro	601542.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	40	cd00086	NULL
5308	24234711	Disease	p.Thr68Pro	601542.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	48	smart00389	NULL
5308	24234711	Disease	p.Thr68Pro	601542.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	34	pfam00046	NULL
5308	21361183	Disease	p.Arg91Pro	601542.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	52	COG5576	NULL
5308	6174907	Disease	p.Arg91Pro	601542.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	58_G	COG5576	24234708,NP_700475
5308	6174907	Disease	p.Arg91Pro	601542.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	6	pfam00046	24234708,NP_700475
5308	6174907	Disease	p.Arg91Pro	601542.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	6	smart00389	24234708,NP_700475
5308	6174907	Disease	p.Arg91Pro	601542.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	6	cd00086	24234708,NP_700475
5308	24234711	Disease	p.Arg91Pro	601542.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	105	COG5576	NULL
5308	24234711	Disease	p.Arg91Pro	601542.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	84	cd00086	NULL
5308	24234711	Disease	p.Arg91Pro	601542.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	92	smart00389	NULL
5308	24234711	Disease	p.Arg91Pro	601542.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	62	pfam00046	NULL
5308	21361183	Disease	p.Arg46Trp	601542.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	IRIDOGONIODYSGENESIS, TYPE 2	OMIM	7	COG5576	NULL
5308	6174907	Disease	p.Arg46Trp	601542.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	IRIDOGONIODYSGENESIS, TYPE 2	OMIM	14	COG5576	24234708,NP_700475
5308	24234711	Disease	p.Arg46Trp	601542.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	IRIDOGONIODYSGENESIS, TYPE 2	OMIM	58	COG5576	NULL
5308	24234711	Disease	p.Arg46Trp	601542.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	IRIDOGONIODYSGENESIS, TYPE 2	OMIM	7	cd00086	NULL
5308	24234711	Disease	p.Arg46Trp	601542.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	IRIDOGONIODYSGENESIS, TYPE 2	OMIM	12	smart00389	NULL
5308	24234711	Disease	p.Arg46Trp	601542.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	IRIDOGONIODYSGENESIS, TYPE 2	OMIM	7	pfam00046	NULL
5308	21361183	Disease	p.Arg70His	601542.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	IRIDOGONIODYSGENESIS, TYPE 2	OMIM	31	COG5576	NULL
5308	6174907	Disease	p.Arg70His	601542.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	IRIDOGONIODYSGENESIS, TYPE 2	OMIM	38	COG5576	24234708,NP_700475
5308	24234711	Disease	p.Arg70His	601542.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	IRIDOGONIODYSGENESIS, TYPE 2	OMIM	82	COG5576	NULL
5308	24234711	Disease	p.Arg70His	601542.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	IRIDOGONIODYSGENESIS, TYPE 2	OMIM	42	cd00086	NULL
5308	24234711	Disease	p.Arg70His	601542.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	IRIDOGONIODYSGENESIS, TYPE 2	OMIM	50	smart00389	NULL
5308	24234711	Disease	p.Arg70His	601542.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	IRIDOGONIODYSGENESIS, TYPE 2	OMIM	36	pfam00046	NULL
5308	21361183	Disease	p.Val45Leu	601542.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	6	COG5576	NULL
5308	6174907	Disease	p.Val45Leu	601542.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	13	COG5576	24234708,NP_700475
5308	24234711	Disease	p.Val45Leu	601542.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	57	COG5576	NULL
5308	24234711	Disease	p.Val45Leu	601542.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	6	cd00086	NULL
5308	24234711	Disease	p.Val45Leu	601542.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	6	smart00389	NULL
5308	24234711	Disease	p.Val45Leu	601542.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	AXENFELD-RIEGER SYNDROME, TYPE 1	OMIM	6	pfam00046	NULL
5308	21361183	Disease	p.Arg62His	601542.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	RING DERMOID OF CORNEA	OMIM	23	COG5576	NULL
5308	6174907	Disease	p.Arg62His	601542.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	RING DERMOID OF CORNEA	OMIM	30	COG5576	24234708,NP_700475
5308	24234711	Disease	p.Arg62His	601542.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	RING DERMOID OF CORNEA	OMIM	74	COG5576	NULL
5308	24234711	Disease	p.Arg62His	601542.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	RING DERMOID OF CORNEA	OMIM	34	cd00086	NULL
5308	24234711	Disease	p.Arg62His	601542.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	RING DERMOID OF CORNEA	OMIM	31	smart00389	NULL
5308	24234711	Disease	p.Arg62His	601542.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601542	RING DERMOID OF CORNEA	OMIM	28	pfam00046	NULL
5626	262359909	Disease	p.Arg120Cys	601538.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	83	cd00086	NULL
5626	262359909	Disease	p.Arg120Cys	601538.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	91	smart00389	NULL
5626	262359909	Disease	p.Arg120Cys	601538.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	61	pfam00046	NULL
5626	262359909	Disease	p.Arg120Cys	601538.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	104	COG5576	NULL
5626	262359909	Disease	p.Phe117Ile	601538.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	80	cd00086	NULL
5626	262359909	Disease	p.Phe117Ile	601538.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	88	smart00389	NULL
5626	262359909	Disease	p.Phe117Ile	601538.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	58	pfam00046	NULL
5626	262359909	Disease	p.Phe117Ile	601538.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	101	COG5576	NULL
5626	262359909	Disease	p.Phe88Ser	601538.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	19	cd00086	NULL
5626	262359909	Disease	p.Phe88Ser	601538.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	24	smart00389	NULL
5626	262359909	Disease	p.Phe88Ser	601538.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	19	pfam00046	NULL
5626	262359909	Disease	p.Phe88Ser	601538.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	70	COG5576	NULL
5626	262359909	Disease	p.Arg73His	601538.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	4	cd00086	NULL
5626	262359909	Disease	p.Arg73His	601538.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	4	smart00389	NULL
5626	262359909	Disease	p.Arg73His	601538.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	4	pfam00046	NULL
5626	262359909	Disease	p.Arg73His	601538.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	57_G	COG5576	NULL
5626	262359909	Disease	p.Arg73Cys	601538.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	4	cd00086	NULL
5626	262359909	Disease	p.Arg73Cys	601538.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	4	smart00389	NULL
5626	262359909	Disease	p.Arg73Cys	601538.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	4	pfam00046	NULL
5626	262359909	Disease	p.Arg73Cys	601538.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	57_G	COG5576	NULL
5626	262359909	Disease	p.Arg99Glu	601538.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	41	cd00086	NULL
5626	262359909	Disease	p.Arg99Glu	601538.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	49	smart00389	NULL
5626	262359909	Disease	p.Arg99Glu	601538.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	35	pfam00046	NULL
5626	262359909	Disease	p.Arg99Glu	601538.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601538	PITUITARY HORMONE DEFICIENCY, COMBINED, 2	OMIM	81	COG5576	NULL
8878	214830451	Disease	p.Pro392Leu	601530.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601530	PAGET DISEASE OF BONE	OMIM	No Domain	N/A	NULL
8878	74735628	Disease	p.Pro392Leu	601530.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601530	PAGET DISEASE OF BONE	OMIM	No Domain	N/A	4505571,NP_003891
8878	214830438	Disease	p.Pro392Leu	601530.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601530	PAGET DISEASE OF BONE	OMIM	No Domain	N/A	NULL
2259	2494463	Disease	p.Phe145Ser	601515.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601515	SPINOCEREBELLAR ATAXIA 27	OMIM	105	smart00442	4758368,NP_004106
2259	2494463	Disease	p.Phe145Ser	601515.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601515	SPINOCEREBELLAR ATAXIA 27	OMIM	129	pfam00167	4758368,NP_004106
2259	2494463	Disease	p.Phe145Ser	601515.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601515	SPINOCEREBELLAR ATAXIA 27	OMIM	93	cd00058	4758368,NP_004106
2259	28872756	Disease	p.Phe145Ser	601515.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601515	SPINOCEREBELLAR ATAXIA 27	OMIM	99	smart00442	NULL
2259	28872756	Disease	p.Phe145Ser	601515.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601515	SPINOCEREBELLAR ATAXIA 27	OMIM	118	pfam00167	NULL
2259	28872756	Disease	p.Phe145Ser	601515.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601515	SPINOCEREBELLAR ATAXIA 27	OMIM	88	cd00058	NULL
3483	543800	Disease	p.Cys540Arg	601489.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601489	ACID-LABILE SUBUNIT DEFICIENCY	OMIM	842	COG4886	4826772,NP_004961
3483	543800	Disease	p.Cys540Arg	601489.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601489	ACID-LABILE SUBUNIT DEFICIENCY	OMIM	5	smart00082	4826772,NP_004961
3483	225579152	Disease	p.Cys540Arg	601489.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601489	ACID-LABILE SUBUNIT DEFICIENCY	OMIM	804	COG4886	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	13	cd07168	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	7	cd07157	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	6	cd06959	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	8	smart00399	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	6	cd06965	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	6	cd06961	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	7	cd06969	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	7	pfam00105	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	25	cd07160	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	13	cd07169	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	14	cd07163	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	13	cd06955	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	13	cd06970	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	12	cd06968	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	9	cd07172	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	10	cd06967	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	10	cd07171	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	10	cd07166	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	10	cd07173	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	11	cd07170	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	11	cd06964	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07167	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07165	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd06957	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	8	cd06962	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd06958	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd06963	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07158	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07156	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07154	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd06916	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd06960	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07179	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	6	cd07162	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07155	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	7	cd06956	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	7	cd06966	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	8	cd07161	NULL
5468	116284370	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07164	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	13	cd07168	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	7	cd07157	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	6	cd06959	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	8	smart00399	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	6	cd06965	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	6	cd06961	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	7	cd06969	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	7	pfam00105	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	25	cd07160	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	13	cd07169	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	14	cd07163	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	13	cd06955	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	13	cd06970	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	12	cd06968	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	9	cd07172	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	10	cd06967	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	10	cd07171	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	10	cd07166	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	10	cd07173	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	11	cd07170	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	11	cd06964	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07167	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07165	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd06957	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	8	cd06962	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd06958	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd06963	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07158	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07156	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07154	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd06916	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd06960	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07179	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	6	cd07162	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07155	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	7	cd06956	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	7	cd06966	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	8	cd07161	NULL
5468	116284373	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07164	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	13	cd07168	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	7	cd07157	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	6	cd06959	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	8	smart00399	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	6	cd06965	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	6	cd06961	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	7	cd06969	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	7	pfam00105	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	25	cd07160	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	13	cd07169	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	14	cd07163	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	13	cd06955	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	13	cd06970	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	12	cd06968	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	9	cd07172	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	10	cd06967	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	10	cd07171	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	10	cd07166	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	10	cd07173	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	11	cd07170	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	11	cd06964	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07167	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07165	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd06957	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	8	cd06962	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd06958	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd06963	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07158	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07156	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07154	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd06916	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd06960	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07179	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	6	cd07162	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07155	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	7	cd06956	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	7	cd06966	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	8	cd07161	NULL
5468	116284368	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	5	cd07164	NULL
5468	13432234	Disease	p.Pro115Gln	601487.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	OBESITY, SEVERE	OMIM	No Domain	N/A	20336229,NP_056953
5468	116284370	Disease	p.Pro12Ala	601487.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	DIABETES MELLITUS, NONINSULIN-DEPENDENT, MODIFIER OF||OBESITY, MODIFIER OF||BODY MASS INDEX, MODIFIER OF||INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY, MODIFIER OF	OMIM	No Domain	N/A	NULL
5468	116284373	Disease	p.Pro12Ala	601487.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	DIABETES MELLITUS, NONINSULIN-DEPENDENT, MODIFIER OF||OBESITY, MODIFIER OF||BODY MASS INDEX, MODIFIER OF||INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY, MODIFIER OF	OMIM	No Domain	N/A	NULL
5468	116284368	Disease	p.Pro12Ala	601487.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	DIABETES MELLITUS, NONINSULIN-DEPENDENT, MODIFIER OF||OBESITY, MODIFIER OF||BODY MASS INDEX, MODIFIER OF||INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY, MODIFIER OF	OMIM	No Domain	N/A	NULL
5468	13432234	Disease	p.Pro12Ala	601487.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	DIABETES MELLITUS, NONINSULIN-DEPENDENT, MODIFIER OF||OBESITY, MODIFIER OF||BODY MASS INDEX, MODIFIER OF||INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY, MODIFIER OF	OMIM	No Domain	N/A	20336229,NP_056953
5468	116284370	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	275	cd06935	NULL
5468	116284370	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	235	cd06938	NULL
5468	116284370	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	263	cd06945	NULL
5468	116284370	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	257	cd06946	NULL
5468	116284370	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	228	cd07348	NULL
5468	116284370	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	373	pfam00104	NULL
5468	116284370	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	294	cd06933	NULL
5468	116284370	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	230	cd07072	NULL
5468	116284370	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	253	cd06939	NULL
5468	116284370	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	236	cd06944	NULL
5468	116284370	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	350	cd06942	NULL
5468	116284370	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	352	cd06934	NULL
5468	116284370	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	238	cd06948	NULL
5468	116284370	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	218	cd06941	NULL
5468	116284370	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	276	cd06954	NULL
5468	116284370	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	228_G	cd06931	NULL
5468	116284370	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	274	cd07068	NULL
5468	116284370	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	270	cd06936	NULL
5468	116284370	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	335	cd06932	NULL
5468	116284370	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	227	cd06937	NULL
5468	116284373	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	275	cd06935	NULL
5468	116284373	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	235	cd06938	NULL
5468	116284373	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	263	cd06945	NULL
5468	116284373	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	257	cd06946	NULL
5468	116284373	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	228	cd07348	NULL
5468	116284373	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	373	pfam00104	NULL
5468	116284373	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	294	cd06933	NULL
5468	116284373	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	230	cd07072	NULL
5468	116284373	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	253	cd06939	NULL
5468	116284373	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	236	cd06944	NULL
5468	116284373	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	350	cd06942	NULL
5468	116284373	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	352	cd06934	NULL
5468	116284373	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	238	cd06948	NULL
5468	116284373	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	218	cd06941	NULL
5468	116284373	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	276	cd06954	NULL
5468	116284373	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	228_G	cd06931	NULL
5468	116284373	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	274	cd07068	NULL
5468	116284373	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	270	cd06936	NULL
5468	116284373	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	335	cd06932	NULL
5468	116284373	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	227	cd06937	NULL
5468	116284368	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	275	cd06935	NULL
5468	116284368	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	235	cd06938	NULL
5468	116284368	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	263	cd06945	NULL
5468	116284368	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	257	cd06946	NULL
5468	116284368	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	228	cd07348	NULL
5468	116284368	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	373	pfam00104	NULL
5468	116284368	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	294	cd06933	NULL
5468	116284368	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	230	cd07072	NULL
5468	116284368	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	253	cd06939	NULL
5468	116284368	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	236	cd06944	NULL
5468	116284368	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	350	cd06942	NULL
5468	116284368	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	352	cd06934	NULL
5468	116284368	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	238	cd06948	NULL
5468	116284368	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	218	cd06941	NULL
5468	116284368	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	276	cd06954	NULL
5468	116284368	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	228_G	cd06931	NULL
5468	116284368	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	274	cd07068	NULL
5468	116284368	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	270	cd06936	NULL
5468	116284368	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	335	cd06932	NULL
5468	116284368	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	227	cd06937	NULL
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	304	cd06932	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	188	cd06941	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	247	cd06935	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	250	cd06954	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	203	cd07072	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	244	cd06936	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	183	cd06942	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	222	cd06930	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	230	cd06946	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	209	cd06944	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	324	cd06934	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	236	cd06945	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	208	cd06938	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	208	cd06950	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	224	cd06929	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	324	pfam00104	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	247	cd07068	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	202	cd06948	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	220	cd06939	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	265	cd06933	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	201	cd07348	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	201	cd06931	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	878	smart00430	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	174	cd06940	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	229	cd06943	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	199	cd06937	20336229,NP_056953
5468	13432234	Disease	p.Pro467Leu	601487.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	201	cd06157	20336229,NP_056953
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	2	smart00430	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	70	cd06935	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	54	cd06938	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	83	cd06945	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	77	cd06946	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	52	cd07348	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	8	cd06157	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	31	cd06950	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	25	cd06940	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	113	cd06933	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	54	cd07072	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	67	cd06939	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	49_G	cd06944	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	9	cd06930	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	9	cd06942	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	129	cd06934	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	33	cd06948	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	10	cd06941	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	101	cd06954	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	40	cd06931	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	64	cd07068	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	12	cd06929	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	46	cd06936	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	155	cd06932	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	51	cd06937	NULL
5468	116284370	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	47	cd06943	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	2	smart00430	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	70	cd06935	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	54	cd06938	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	83	cd06945	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	77	cd06946	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	52	cd07348	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	8	cd06157	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	31	cd06950	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	25	cd06940	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	113	cd06933	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	54	cd07072	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	67	cd06939	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	49_G	cd06944	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	9	cd06930	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	9	cd06942	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	129	cd06934	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	33	cd06948	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	10	cd06941	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	101	cd06954	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	40	cd06931	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	64	cd07068	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	12	cd06929	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	46	cd06936	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	155	cd06932	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	51	cd06937	NULL
5468	116284373	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	47	cd06943	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	2	smart00430	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	70	cd06935	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	54	cd06938	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	83	cd06945	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	77	cd06946	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	52	cd07348	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	8	cd06157	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	31	cd06950	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	25	cd06940	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	113	cd06933	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	54	cd07072	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	67	cd06939	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	49_G	cd06944	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	9	cd06930	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	9	cd06942	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	129	cd06934	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	33	cd06948	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	10	cd06941	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	101	cd06954	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	40	cd06931	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	64	cd07068	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	12	cd06929	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	46	cd06936	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	155	cd06932	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	51	cd06937	NULL
5468	116284368	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	47	cd06943	NULL
5468	13432234	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	127	cd06932	20336229,NP_056953
5468	13432234	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	45	cd06935	20336229,NP_056953
5468	13432234	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	63	cd06954	20336229,NP_056953
5468	13432234	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	26	cd07072	20336229,NP_056953
5468	13432234	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	5	cd06936	20336229,NP_056953
5468	13432234	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	15	cd06946	20336229,NP_056953
5468	13432234	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	18	cd06944	20336229,NP_056953
5468	13432234	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	89	cd06934	20336229,NP_056953
5468	13432234	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	29	cd06945	20336229,NP_056953
5468	13432234	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	23	cd06938	20336229,NP_056953
5468	13432234	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	4	cd06950	20336229,NP_056953
5468	13432234	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	15	cd07068	20336229,NP_056953
5468	13432234	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	47	cd06939	20336229,NP_056953
5468	13432234	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	85	cd06933	20336229,NP_056953
5468	13432234	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	25	cd07348	20336229,NP_056953
5468	13432234	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	12	cd06931	20336229,NP_056953
5468	13432234	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	7	cd06943	20336229,NP_056953
5468	13432234	Disease	p.Val290Met	601487.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	22	cd06937	20336229,NP_056953
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	707	smart00430	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	169	cd06935	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	154	cd06938	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	179	cd06945	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	174	cd06946	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	147	cd07348	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	135	cd06157	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	144	cd06950	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	123	cd06940	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	168	pfam00104	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	212	cd06933	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	150	cd07072	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	165	cd06939	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	154	cd06944	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	138	cd06930	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	114	cd06942	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	240	cd06934	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	148	cd06948	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	133	cd06941	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	199	cd06954	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	148	cd06931	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	183	cd07068	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	147	cd06929	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	193	cd06936	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	253	cd06932	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	148	cd06937	NULL
5468	116284370	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	178	cd06943	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	707	smart00430	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	169	cd06935	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	154	cd06938	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	179	cd06945	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	174	cd06946	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	147	cd07348	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	135	cd06157	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	144	cd06950	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	123	cd06940	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	168	pfam00104	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	212	cd06933	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	150	cd07072	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	165	cd06939	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	154	cd06944	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	138	cd06930	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	114	cd06942	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	240	cd06934	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	148	cd06948	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	133	cd06941	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	199	cd06954	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	148	cd06931	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	183	cd07068	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	147	cd06929	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	193	cd06936	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	253	cd06932	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	148	cd06937	NULL
5468	116284373	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	178	cd06943	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	707	smart00430	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	169	cd06935	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	154	cd06938	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	179	cd06945	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	174	cd06946	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	147	cd07348	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	135	cd06157	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	144	cd06950	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	123	cd06940	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	168	pfam00104	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	212	cd06933	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	150	cd07072	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	165	cd06939	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	154	cd06944	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	138	cd06930	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	114	cd06942	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	240	cd06934	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	148	cd06948	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	133	cd06941	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	199	cd06954	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	148	cd06931	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	183	cd07068	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	147	cd06929	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	193	cd06936	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	253	cd06932	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	148	cd06937	NULL
5468	116284368	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	178	cd06943	NULL
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	225	cd06932	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	104	cd06941	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	141	cd06935	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	171	cd06954	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	122	cd07072	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	141	cd06936	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	85	cd06942	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	109	cd06930	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	146	cd06946	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	126	cd06944	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	216_G	cd06934	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	148	cd06945	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	126	cd06938	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	117	cd06950	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	116	cd06929	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	109	pfam00104	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	156	cd07068	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	117	cd06948	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	137	cd06939	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	183	cd06933	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	119	cd07348	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	116	cd06931	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	627	smart00430	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	95	cd06940	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	153	cd06943	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	120	cd06937	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	601487.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	107	cd06157	20336229,NP_056953
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	840	smart00430	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	233	cd06935	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	191	cd06938	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	216	cd06945	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	211	cd06946	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	183	cd07348	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	181	cd06157	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	194	cd06950	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	160	cd06940	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	282	pfam00104	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	251	cd06933	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	186	cd07072	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	202	cd06939	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	195	cd06944	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	204	cd06930	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	169	cd06942	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	309	cd06934	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	186	cd06948	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	171	cd06941	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	236	cd06954	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	187	cd06931	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	228	cd07068	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	187	cd06929	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	230	cd06936	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	290	cd06932	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	185	cd06937	NULL
5468	116284370	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	215	cd06943	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	840	smart00430	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	233	cd06935	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	191	cd06938	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	216	cd06945	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	211	cd06946	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	183	cd07348	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	181	cd06157	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	194	cd06950	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	160	cd06940	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	282	pfam00104	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	251	cd06933	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	186	cd07072	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	202	cd06939	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	195	cd06944	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	204	cd06930	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	169	cd06942	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	309	cd06934	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	186	cd06948	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	171	cd06941	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	236	cd06954	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	187	cd06931	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	228	cd07068	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	187	cd06929	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	230	cd06936	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	290	cd06932	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	185	cd06937	NULL
5468	116284373	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	215	cd06943	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	840	smart00430	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	233	cd06935	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	191	cd06938	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	216	cd06945	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	211	cd06946	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	183	cd07348	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	181	cd06157	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	194	cd06950	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	160	cd06940	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	282	pfam00104	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	251	cd06933	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	186	cd07072	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	202	cd06939	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	195	cd06944	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	204	cd06930	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	169	cd06942	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	309	cd06934	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	186	cd06948	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	171	cd06941	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	236	cd06954	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	187	cd06931	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	228	cd07068	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	187	cd06929	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	230	cd06936	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	290	cd06932	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	185	cd06937	NULL
5468	116284368	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	215	cd06943	NULL
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	262	cd06932	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	142	cd06941	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	178	cd06935	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	208	cd06954	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	158	cd07072	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	202	cd06936	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	123	cd06942	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	147	cd06930	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	183	cd06946	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	163	cd06944	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	249	cd06934	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	188	cd06945	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	163	cd06938	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	166	cd06950	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	156	cd06929	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	177	pfam00104	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	192	cd07068	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	157	cd06948	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	174	cd06939	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	221	cd06933	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	155	cd07348	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	157	cd06931	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	759	smart00430	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	132	cd06940	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	187	cd06943	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	157	cd06937	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	601487.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	144	cd06157	20336229,NP_056953
5468	116284370	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	90	cd07168	NULL
5468	116284370	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	93	cd07157	NULL
5468	116284370	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	86	cd06965	NULL
5468	116284370	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	88	cd06961	NULL
5468	116284370	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	89	cd07169	NULL
5468	116284370	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	95	cd07163	NULL
5468	116284370	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	89	cd06955	NULL
5468	116284370	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	90	cd06970	NULL
5468	116284370	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	16	cd06933	NULL
5468	116284370	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	88	cd06968	NULL
5468	116284370	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	86	cd06967	NULL
5468	116284370	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	87	cd07166	NULL
5468	116284370	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	86	cd07170	NULL
5468	116284370	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	83	cd07167	NULL
5468	116284370	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	79	cd07162	NULL
5468	116284370	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	83	cd06966	NULL
5468	116284370	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	85	cd07161	NULL
5468	116284373	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	90	cd07168	NULL
5468	116284373	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	93	cd07157	NULL
5468	116284373	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	86	cd06965	NULL
5468	116284373	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	88	cd06961	NULL
5468	116284373	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	89	cd07169	NULL
5468	116284373	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	95	cd07163	NULL
5468	116284373	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	89	cd06955	NULL
5468	116284373	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	90	cd06970	NULL
5468	116284373	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	16	cd06933	NULL
5468	116284373	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	88	cd06968	NULL
5468	116284373	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	86	cd06967	NULL
5468	116284373	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	87	cd07166	NULL
5468	116284373	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	86	cd07170	NULL
5468	116284373	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	83	cd07167	NULL
5468	116284373	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	79	cd07162	NULL
5468	116284373	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	83	cd06966	NULL
5468	116284373	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	85	cd07161	NULL
5468	116284368	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	90	cd07168	NULL
5468	116284368	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	93	cd07157	NULL
5468	116284368	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	86	cd06965	NULL
5468	116284368	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	88	cd06961	NULL
5468	116284368	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	89	cd07169	NULL
5468	116284368	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	95	cd07163	NULL
5468	116284368	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	89	cd06955	NULL
5468	116284368	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	90	cd06970	NULL
5468	116284368	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	16	cd06933	NULL
5468	116284368	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	88	cd06968	NULL
5468	116284368	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	86	cd06967	NULL
5468	116284368	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	87	cd07166	NULL
5468	116284368	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	86	cd07170	NULL
5468	116284368	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	83	cd07167	NULL
5468	116284368	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	79	cd07162	NULL
5468	116284368	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	83	cd06966	NULL
5468	116284368	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	85	cd07161	NULL
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	53	cd06958	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	53	cd06963	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	56	cd06960	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	55	cd07162	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	53	cd07165	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	54	cd06957	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	56	cd06962	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	61	cd07179	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	56	cd07167	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	53	cd07164	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	54	cd07158	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	55	cd07156	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	55	cd07154	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	71	cd06916	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	53	cd07155	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	55	cd06956	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	55	cd06966	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	56	cd07161	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	62	cd07168	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	75	cd07160	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	58	cd07173	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	58	cd06967	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	59	cd07171	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	59	cd07166	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	66	cd07172	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	61	cd07169	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	67	cd07163	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	61	cd06955	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	62	cd06970	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	59	cd07170	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	59	cd06964	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	58	cd06965	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	60	cd06961	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	54	cd06959	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	121	smart00399	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	65	cd07157	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	59	pfam00105	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	56	cd06969	20336229,NP_056953
5468	13432234	Disease	p.Cys190Ser	601487.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	60	cd06968	20336229,NP_056953
5468	116284370	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	93	cd06955	NULL
5468	116284370	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	20	cd06933	NULL
5468	116284370	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	92	cd06968	NULL
5468	116284370	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	90	cd07170	NULL
5468	116284370	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	88	cd07167	NULL
5468	116284370	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	83	cd07162	NULL
5468	116284370	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	87	cd06966	NULL
5468	116284370	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	89	cd07161	NULL
5468	116284373	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	93	cd06955	NULL
5468	116284373	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	20	cd06933	NULL
5468	116284373	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	92	cd06968	NULL
5468	116284373	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	90	cd07170	NULL
5468	116284373	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	88	cd07167	NULL
5468	116284373	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	83	cd07162	NULL
5468	116284373	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	87	cd06966	NULL
5468	116284373	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	89	cd07161	NULL
5468	116284368	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	93	cd06955	NULL
5468	116284368	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	20	cd06933	NULL
5468	116284368	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	92	cd06968	NULL
5468	116284368	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	90	cd07170	NULL
5468	116284368	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	88	cd07167	NULL
5468	116284368	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	83	cd07162	NULL
5468	116284368	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	87	cd06966	NULL
5468	116284368	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	89	cd07161	NULL
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	57	cd06958	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	57	cd06963	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	60	cd06960	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	59	cd07162	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	57	cd07165	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	58	cd06957	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	60	cd06962	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	65	cd07179	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	60	cd07167	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	57	cd07164	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	58	cd07158	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	59	cd07156	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	59	cd07154	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	75	cd06916	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	57	cd07155	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	59	cd06956	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	59	cd06966	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	60	cd07161	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	66	cd07168	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	79	cd07160	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	62	cd07173	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	62	cd06967	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	63	cd07171	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	63	cd07166	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	70	cd07172	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	65	cd07169	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	71	cd07163	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	65	cd06955	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	66	cd06970	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	63	cd07170	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	63	cd06964	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	62	cd06965	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	64	cd06961	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	58	cd06959	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	125	smart00399	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	69	cd07157	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	63	pfam00105	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	60	cd06969	20336229,NP_056953
5468	13432234	Disease	p.Arg194Trp	601487.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601487	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3	OMIM	64	cd06968	20336229,NP_056953
1618	299829262	Disease	p.Thr54Ala	601486.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601486	SPERMATOGENIC FAILURE, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
1618	27805453	Disease	p.Thr54Ala	601486.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601486	SPERMATOGENIC FAILURE, SUSCEPTIBILITY TO	OMIM	15	pfam00076	25121978,NP_001342
1618	27805453	Disease	p.Thr54Ala	601486.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601486	SPERMATOGENIC FAILURE, SUSCEPTIBILITY TO	OMIM	21	smart00360	25121978,NP_001342
1618	27805453	Disease	p.Thr54Ala	601486.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601486	SPERMATOGENIC FAILURE, SUSCEPTIBILITY TO	OMIM	43	cd00590	25121978,NP_001342
1618	27805453	Disease	p.Thr54Ala	601486.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601486	SPERMATOGENIC FAILURE, SUSCEPTIBILITY TO	OMIM	22	smart00362	25121978,NP_001342
4640	13431715	Disease	p.Val306Met	601478.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	573	smart00242	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	601478.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	308	cd01385	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	601478.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	304	cd01379	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	601478.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	299	cd01383	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	601478.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	297	cd01381	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	601478.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	349	cd01380	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	601478.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	449	cd01378	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	601478.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	458	cd00124	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	601478.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	305	cd01386	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	601478.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	367	cd01377	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	601478.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	337	cd01384	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	601478.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	300	cd01387	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	601478.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	409	COG5022	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	601478.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	429	pfam00063	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	601478.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	373	cd01363	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	601478.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	387	cd01382	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	601478.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	700	smart00242	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	601478.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	391	cd01385	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	601478.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	427	cd01379	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	601478.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	378	cd01383	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	601478.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	380	cd01381	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	601478.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	436	cd01380	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	601478.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	541	cd01378	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	601478.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	603	cd00124	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	601478.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	399	cd01386	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	601478.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	464	cd01377	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	601478.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	443	cd01384	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	601478.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	379	cd01387	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	601478.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	497	COG5022	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	601478.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	554	pfam00063	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	601478.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	451	cd01363	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	601478.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	469	cd01382	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	601478.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	1476	smart00242	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	601478.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	799	cd01385	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	601478.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	983	cd01379	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	601478.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	651	cd01383	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	601478.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	652	cd01381	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	601478.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	746	cd01380	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	601478.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	856	cd01378	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	601478.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	1128	cd00124	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	601478.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	815	cd01386	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	601478.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	786	cd01377	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	601478.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	782	cd01384	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	601478.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	657	cd01387	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	601478.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	798	COG5022	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	601478.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	929	pfam00063	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	601478.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	909	cd01382	4885503,NP_005370
4640	13431715	Disease	p.Ser910Pro	601478.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	1339	COG5022	4885503,NP_005370
4640	13431715	Disease	p.Ser910Pro	601478.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601478	DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A	OMIM	92	pfam06017	4885503,NP_005370
1524	1351394	Disease	p.Val249Ile	601470.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601470	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS||CORONARY ARTERY DISEASE, RESISTANCE TO||MACULAR DEGENERATION, AGE-RELATED, SUSCEPTIBILITY TO	OMIM	384	pfam00001	283837927,NP_001164643|283837924,NP_001164642|4503171,NP_001328
1524	283837934	Disease	p.Val249Ile	601470.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601470	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS||CORONARY ARTERY DISEASE, RESISTANCE TO||MACULAR DEGENERATION, AGE-RELATED, SUSCEPTIBILITY TO	OMIM	207	pfam00001	NULL
1524	1351394	Disease	p.Val249Ile	601470.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601470	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS||CORONARY ARTERY DISEASE, RESISTANCE TO||MACULAR DEGENERATION, AGE-RELATED, SUSCEPTIBILITY TO	OMIM	384	pfam00001	283837927,NP_001164643|283837924,NP_001164642|4503171,NP_001328
1524	1351394	Disease	p.Val249Ile	601470.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601470	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS||CORONARY ARTERY DISEASE, RESISTANCE TO||MACULAR DEGENERATION, AGE-RELATED, SUSCEPTIBILITY TO	OMIM	384	pfam00001	283837927,NP_001164643|283837924,NP_001164642|4503171,NP_001328
1716	18426971	Disease	p.Arg142Lys	601465.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601465	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	124	cd01673	NULL
1716	18426971	Disease	p.Arg142Lys	601465.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601465	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	146	cd02019	NULL
1716	23503050	Disease	p.Arg142Lys	601465.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601465	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	94	COG1428	18426967,NP_550438
1716	23503050	Disease	p.Arg142Lys	601465.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601465	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	146	cd02019	18426967,NP_550438
1716	23503050	Disease	p.Arg142Lys	601465.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601465	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	124	cd01673	18426967,NP_550438
1716	23503050	Disease	p.Arg142Lys	601465.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601465	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	109	cd02030	18426967,NP_550438
1716	23503050	Disease	p.Arg142Lys	601465.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601465	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	33	pfam01712	18426967,NP_550438
1716	18426971	Disease	p.Glu227Lys	601465.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601465	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	No Domain	N/A	NULL
1716	23503050	Disease	p.Glu227Lys	601465.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601465	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	189	COG1428	18426967,NP_550438
1716	23503050	Disease	p.Glu227Lys	601465.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601465	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	255	cd02019	18426967,NP_550438
1716	23503050	Disease	p.Glu227Lys	601465.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601465	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	249	cd01673	18426967,NP_550438
1716	23503050	Disease	p.Glu227Lys	601465.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601465	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	240	cd02030	18426967,NP_550438
1716	23503050	Disease	p.Glu227Lys	601465.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601465	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	139	pfam01712	18426967,NP_550438
1716	18426971	Disease	p.Asp255Tyr	601465.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601465	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM||CYSTATHIONINURIA	OMIM	No Domain	N/A	NULL
1716	23503050	Disease	p.Asp255Tyr	601465.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601465	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM||CYSTATHIONINURIA	OMIM	209	COG1428	18426967,NP_550438
1716	23503050	Disease	p.Asp255Tyr	601465.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601465	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM||CYSTATHIONINURIA	OMIM	320	cd01673	18426967,NP_550438
1716	23503050	Disease	p.Asp255Tyr	601465.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601465	MITOCHONDRIAL DNA-DEPLETION SYNDROME, HEPATOCEREBRAL FORM||CYSTATHIONINURIA	OMIM	167	pfam01712	18426967,NP_550438
1073	6831517	Disease	p.Ala35Thr	601443.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601443	NEMALINE MYOPATHY 7	OMIM	36	cd00013	14719392,NP_068733|33946278,NP_619579
1073	6831517	Disease	p.Ala35Thr	601443.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601443	NEMALINE MYOPATHY 7	OMIM	35	smart00102	14719392,NP_068733|33946278,NP_619579
1073	6831517	Disease	p.Ala35Thr	601443.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601443	NEMALINE MYOPATHY 7	OMIM	21	pfam00241	14719392,NP_068733|33946278,NP_619579
1073	6831517	Disease	p.Ala35Thr	601443.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601443	NEMALINE MYOPATHY 7	OMIM	36	cd00013	14719392,NP_068733|33946278,NP_619579
1073	6831517	Disease	p.Ala35Thr	601443.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601443	NEMALINE MYOPATHY 7	OMIM	35	smart00102	14719392,NP_068733|33946278,NP_619579
1073	6831517	Disease	p.Ala35Thr	601443.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601443	NEMALINE MYOPATHY 7	OMIM	21	pfam00241	14719392,NP_068733|33946278,NP_619579
10060	110832839	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	No Domain	N/A	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	276	cd03248	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	746	COG1123	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	279	cd03288	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	252	cd03244	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	206	cd03254	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	208	cd03245	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	220	cd03289	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	227	COG1126	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	216	cd03266	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	235	cd03217	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	207	COG4619	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	237	cd03260	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	242	cd03230	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	219	cd03262	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	207	cd03246	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	336	cd03249	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	204	cd03252	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	230	cd03253	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	212	cd03218	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	245	cd03216	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	213	cd03292	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	215	COG2884	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	219	cd03290	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	383	cd03228	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	327	cd03250	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	252	cd03229	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	199	cd03265	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	204	COG4555	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	215	COG1101	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	204	cd03268	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	209	cd03247	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	223	cd03264	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	235	cd03220	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	223	cd03251	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	246	cd03225	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	1363	cd00267	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	209	COG4161	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	269	COG1131	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	219	cd03258	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	531	COG0444	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	483	cd03257	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	503	COG4172	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	666	smart00382	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	540	COG4988	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	560	COG4987	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	530	COG4615	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	217	COG4167	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	745	COG2274	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	554	COG1122	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	290	COG0396	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	239	cd03232	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	217	COG1137	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	241	cd03369	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	1462	COG1132	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	469	COG5265	NULL
10060	110832837	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	573	COG4618	NULL
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	276	cd03248	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	279	cd03288	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	216	cd03245	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	252	cd03244	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	206	cd03254	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	220	cd03289	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	243	cd03220	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	235	cd03217	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	239_G	cd03260	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	207	cd03246	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	242	cd03230	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	230	cd03253	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	204	cd03252	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	336	cd03249	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	219	cd03290	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	327	cd03250	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	215	COG2884	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	383	cd03228	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	252	cd03229	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	220	cd03218	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	218	cd03266	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	204	COG4555	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	212_G	cd03292	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	223	cd03264	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	209	cd03247	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	223	cd03251	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	246	cd03225	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	1363	cd00267	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	219	cd03258	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	269	COG1131	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	483	cd03257	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	624	COG0444	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	505_G	COG4172	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	653	smart00382	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	530	COG4615	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	560	COG4987	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	540	COG4988	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	745	COG2274	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	298	COG0396	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	554	COG1122	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	225	COG1137	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	241	cd03369	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	1462	COG1132	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	469	COG5265	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	601439.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601439	CARDIOMYOPATHY, DILATED, 1O	OMIM	573	COG4618	110832835,NP_005682
5019	2492998	Disease	p.Cys456Phe	601424.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601424	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY	OMIM	506	COG4670	4557817,NP_000427
5019	2492998	Disease	p.Cys456Phe	601424.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601424	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY	OMIM	186	COG2057	4557817,NP_000427
5019	2492998	Disease	p.Cys456Phe	601424.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601424	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY	OMIM	224	pfam01144	4557817,NP_000427
5019	2492998	Disease	p.Val133Glu	601424.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601424	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY	OMIM	116	pfam01144	4557817,NP_000427
5019	2492998	Disease	p.Val133Glu	601424.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601424	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY	OMIM	118	COG4670	4557817,NP_000427
5019	2492998	Disease	p.Val133Glu	601424.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601424	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY	OMIM	108	COG1788	4557817,NP_000427
5019	2492998	Disease	p.Gly324Glu	601424.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601424	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY	OMIM	357	COG4670	4557817,NP_000427
5019	2492998	Disease	p.Gly324Glu	601424.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601424	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY	OMIM	33	COG2057	4557817,NP_000427
5019	2492998	Disease	p.Gly324Glu	601424.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601424	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY	OMIM	28	pfam01144	4557817,NP_000427
5019	2492998	Disease	p.Gly219Glu	601424.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601424	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY	OMIM	218	pfam01144	4557817,NP_000427
5019	2492998	Disease	p.Gly219Glu	601424.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601424	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY	OMIM	213	COG4670	4557817,NP_000427
5019	2492998	Disease	p.Gly219Glu	601424.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601424	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY	OMIM	200	COG1788	4557817,NP_000427
5019	2492998	Disease	p.Val221Met	601424.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601424	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY	OMIM	220	pfam01144	4557817,NP_000427
5019	2492998	Disease	p.Val221Met	601424.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601424	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY	OMIM	215	COG4670	4557817,NP_000427
5019	2492998	Disease	p.Val221Met	601424.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601424	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY	OMIM	202	COG1788	4557817,NP_000427
3735	194272210	Disease	p.Leu133His	601421.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601421	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B	OMIM	4	COG0017	NULL
3735	194272210	Disease	p.Leu133His	601421.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601421	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B	OMIM	54	COG1190	NULL
3735	20178333	Disease	p.Leu133His	601421.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601421	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B	OMIM	34	COG0017	5031815,NP_005539
3735	20178333	Disease	p.Leu133His	601421.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601421	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B	OMIM	165	COG1190	5031815,NP_005539
3735	20178333	Disease	p.Leu133His	601421.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601421	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B	OMIM	28	COG0173	5031815,NP_005539
3735	20178333	Disease	p.Leu133His	601421.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601421	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B	OMIM	9	cd04322	5031815,NP_005539
3735	20178333	Disease	p.Leu133His	601421.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601421	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B	OMIM	9	cd04100	5031815,NP_005539
3735	20178333	Disease	p.Leu133His	601421.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601421	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B	OMIM	9	pfam01336	5031815,NP_005539
6444	27477101	Disease	p.Glu262Lys	601411.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601411	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F	OMIM	No Domain	N/A	NULL
6444	212276471	Disease	p.Glu262Lys	601411.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601411	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F	OMIM	287	pfam04790	189571662,NP_001121681
6444	21314619	Disease	p.Glu262Lys	601411.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601411	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F	OMIM	286	pfam04790	NULL
6444	27477101	Disease	p.Ser151Ala	601411.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601411	CARDIOMYOPATHY, DILATED, 1L||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, DIGENIC	OMIM	150	pfam04790	NULL
6444	212276471	Disease	p.Ser151Ala	601411.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601411	CARDIOMYOPATHY, DILATED, 1L||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, DIGENIC	OMIM	151	pfam04790	189571662,NP_001121681
6444	21314619	Disease	p.Ser151Ala	601411.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601411	CARDIOMYOPATHY, DILATED, 1L||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, DIGENIC	OMIM	150	pfam04790	NULL
6444	27477101	Disease	p.Ala131Pro	601411.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601411	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F	OMIM	127	pfam04790	NULL
6444	212276471	Disease	p.Ala131Pro	601411.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601411	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F	OMIM	130	pfam04790	189571662,NP_001121681
6444	21314619	Disease	p.Ala131Pro	601411.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601411	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F	OMIM	127	pfam04790	NULL
11330	14194504	Disease	p.Arg254Trp	601405.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601405	PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO	OMIM	413	cd00190	62526043,NP_009203
11330	14194504	Disease	p.Arg254Trp	601405.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601405	PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO	OMIM	335	pfam00089	62526043,NP_009203
11330	14194504	Disease	p.Arg254Trp	601405.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601405	PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO	OMIM	565	smart00020	62526043,NP_009203
1234	1705896	Disease	p.Arg223Gln	601373.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601373	CCR5 POLYMORPHISM, ORIENTAL 2	OMIM	210	pfam00001	154091328,NP_001093638|4502639,NP_000570
1234	1705896	Disease	p.Arg223Gln	601373.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601373	CCR5 POLYMORPHISM, ORIENTAL 2	OMIM	210	pfam00001	154091328,NP_001093638|4502639,NP_000570
1234	1705896	Disease	p.Ala335Val	601373.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601373	CCR5 POLYMORPHISM, AFRICAN-AMERICAN	OMIM	No Domain	N/A	154091328,NP_001093638|4502639,NP_000570
1234	1705896	Disease	p.Ala335Val	601373.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601373	CCR5 POLYMORPHISM, AFRICAN-AMERICAN	OMIM	No Domain	N/A	154091328,NP_001093638|4502639,NP_000570
1234	1705896	Disease	p.Arg60Ser	601373.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601373	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO	OMIM	8	pfam00001	154091328,NP_001093638|4502639,NP_000570
1234	1705896	Disease	p.Arg60Ser	601373.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601373	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO	OMIM	8	pfam00001	154091328,NP_001093638|4502639,NP_000570
7841	116242490	Disease	p.Arg486Thr	601336.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601336	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb	OMIM	624	pfam03200	149999606,NP_006293
7841	225903430	Disease	p.Arg486Thr	601336.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601336	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb	OMIM	788	pfam03200	NULL
7841	116242490	Disease	p.Phe652Leu	601336.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601336	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb	OMIM	853	pfam03200	149999606,NP_006293
7841	225903430	Disease	p.Phe652Leu	601336.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601336	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb	OMIM	1004	pfam03200	NULL
5310	205360954	Disease	p.Arg324Leu	601313.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601313	POLYCYSTIC KIDNEY DISEASE 1	OMIM	112	smart00089	NULL
5310	205360954	Disease	p.Arg324Leu	601313.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601313	POLYCYSTIC KIDNEY DISEASE 1	OMIM	98	pfam00801	NULL
5310	205360954	Disease	p.Arg324Leu	601313.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601313	POLYCYSTIC KIDNEY DISEASE 1	OMIM	97	cd00146	NULL
5310	205360962	Disease	p.Arg324Leu	601313.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601313	POLYCYSTIC KIDNEY DISEASE 1	OMIM	112	smart00089	NULL
5310	205360962	Disease	p.Arg324Leu	601313.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601313	POLYCYSTIC KIDNEY DISEASE 1	OMIM	98	pfam00801	NULL
5310	205360962	Disease	p.Arg324Leu	601313.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601313	POLYCYSTIC KIDNEY DISEASE 1	OMIM	97	cd00146	NULL
5310	205360954	Disease	p.Leu845Ser	601313.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601313	POLYCYSTIC KIDNEY DISEASE 1	OMIM	No Domain	N/A	NULL
5310	205360962	Disease	p.Leu845Ser	601313.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601313	POLYCYSTIC KIDNEY DISEASE 1	OMIM	No Domain	N/A	NULL
5727	134254432	Disease	p.Ala393Thr	601309.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	257	pfam02460	NULL
5727	160415977	Disease	p.Ala393Thr	601309.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	256	pfam02460	134254446,NP_000255
5727	134254452	Disease	p.Ala393Thr	601309.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	103	pfam12349	NULL
5727	134254452	Disease	p.Ala393Thr	601309.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	428	pfam02460	NULL
5727	134254466	Disease	p.Ala393Thr	601309.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	327	pfam02460	NULL
5727	134254468	Disease	p.Ala393Thr	601309.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	103	pfam12349	NULL
5727	134254468	Disease	p.Ala393Thr	601309.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	428	pfam02460	NULL
5727	134254435	Disease	p.Ala393Thr	601309.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	103	pfam12349	NULL
5727	134254435	Disease	p.Ala393Thr	601309.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	428	pfam02460	NULL
5727	134254450	Disease	p.Ala393Thr	601309.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	103	pfam12349	NULL
5727	134254450	Disease	p.Ala393Thr	601309.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	428	pfam02460	NULL
5727	134254432	Disease	p.Thr728Met	601309.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	597	pfam02460	NULL
5727	160415977	Disease	p.Thr728Met	601309.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	596	pfam02460	134254446,NP_000255
5727	134254452	Disease	p.Thr728Met	601309.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	756_G	pfam02460	NULL
5727	134254466	Disease	p.Thr728Met	601309.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	667	pfam02460	NULL
5727	134254468	Disease	p.Thr728Met	601309.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	756_G	pfam02460	NULL
5727	134254435	Disease	p.Thr728Met	601309.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	756_G	pfam02460	NULL
5727	134254450	Disease	p.Thr728Met	601309.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	756_G	pfam02460	NULL
5727	134254432	Disease	p.Ser827Gly	601309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	703	pfam02460	NULL
5727	160415977	Disease	p.Ser827Gly	601309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	702	pfam02460	134254446,NP_000255
5727	134254452	Disease	p.Ser827Gly	601309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	810	pfam02460	NULL
5727	134254466	Disease	p.Ser827Gly	601309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	770	pfam02460	NULL
5727	134254468	Disease	p.Ser827Gly	601309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	810	pfam02460	NULL
5727	134254435	Disease	p.Ser827Gly	601309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	810	pfam02460	NULL
5727	134254450	Disease	p.Ser827Gly	601309.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	810	pfam02460	NULL
5727	134254432	Disease	p.Thr1052Met	601309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	889	pfam02460	NULL
5727	160415977	Disease	p.Thr1052Met	601309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	888	pfam02460	134254446,NP_000255
5727	134254452	Disease	p.Thr1052Met	601309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	No Domain	N/A	NULL
5727	134254466	Disease	p.Thr1052Met	601309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	960	pfam02460	NULL
5727	134254468	Disease	p.Thr1052Met	601309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	No Domain	N/A	NULL
5727	134254435	Disease	p.Thr1052Met	601309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	No Domain	N/A	NULL
5727	134254450	Disease	p.Thr1052Met	601309.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	No Domain	N/A	NULL
5727	134254432	Disease	p.Val908Gly	601309.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	775_G	pfam02460	NULL
5727	160415977	Disease	p.Val908Gly	601309.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	775_G	pfam02460	134254446,NP_000255
5727	134254452	Disease	p.Val908Gly	601309.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	895	pfam02460	NULL
5727	134254466	Disease	p.Val908Gly	601309.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	806	pfam02460	NULL
5727	134254468	Disease	p.Val908Gly	601309.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	895	pfam02460	NULL
5727	134254435	Disease	p.Val908Gly	601309.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	895	pfam02460	NULL
5727	134254450	Disease	p.Val908Gly	601309.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601309	HOLOPROSENCEPHALY 7	OMIM	895	pfam02460	NULL
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	115	cd08529	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	115	cd06646	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	115	cd06645	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	136	cd05049	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	127	cd06636	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	393	smart00219	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	189	pfam00069	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	263	pfam07714	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	470	smart00221	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	119	cd07835	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	125	cd05075	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	122	cd05074	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	132	cd05035	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	104	cd05115	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	127	cd07864	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	120	cd06637	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	118	cd05111	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	127	cd06658	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	377	smart00220	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	135	cd07838	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	114	cd05148	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	130_G	cd06632	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	149	cd07829	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	161	cd07830	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	114	cd06611	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	111	cd06626	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	142	cd05122	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	115	cd06625	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	152	cd07834	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	158	cd07840	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	118	cd05118	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	152	cd06608	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	117	cd05088	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	159	cd05053	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	143	cd07851	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	133	cd06638	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	618	cd05123	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	168	cd05572	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	339	cd00180	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	105	cd05579	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	121	cd05047	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	107	cd05577	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	114	cd05058	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	104	cd05116	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	111	cd05060	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	105	cd05041	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	112	cd05042	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	103	cd05084	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	103	cd05085	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	119	cd05044	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	113	cd05040	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	316	cd00192	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	110	cd05578	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	111	cd08223	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	106	cd07836	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	111	cd07861	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	173	cd05032	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	113	cd06631	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	189	cd06606	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	131	cd08528	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	110	cd08225	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	213	cd07842	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	114	cd05583	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	109	cd07860	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	108	cd07839	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	120	cd07863	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	248	cd05055	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	115	cd08530	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	147	cd08215	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	108	cd08219	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	126	cd07841	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	116	cd06627	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	110	cd08218	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	111	cd08221	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	119	cd08220	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	118	cd07857	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	111	cd05605	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	136	cd05045	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	124	cd07832	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	133	cd07865	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	133	cd05090	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	126	cd06659	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	118	cd05109	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	111	cd05067	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	123	cd05091	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	110	cd05073	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	136	cd05048	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	114	cd05068	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	129	cd05061	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	129	cd05093	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	127	cd05036	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	117	cd05062	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	117	cd05063	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	131	cd07833	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	112	cd06613	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	119	cd07849	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	125	cd06648	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	124_G	cd07852	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	130	cd07845	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	114	cd05092	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	170	cd05057	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	113	cd05052	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	115	cd05039	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	111	cd05082	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	110	cd06641	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	110	cd06642	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	116	cd08224	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	110	cd06640	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	115	cd08229	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	111	cd05059	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	110	cd05113	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	109	cd05114	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	116	cd05064	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	115	cd05066	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	115	cd05065	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	117	cd05081	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	118	cd05079	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	144	cd06639	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	111	cd05069	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	110	cd05072	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	111	cd05070	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	117	cd07856	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	111	cd05071	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	113	cd07844	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	109	cd05112	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	137	cd05038	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	142	cd05033	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	222	cd05581	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	112	cd05034	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	123	cd06622	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	109	cd05083	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	113	cd06617	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	124	cd06612	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	115	cd06610	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	119	cd06621	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	119	cd07862	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	111	cd07847	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	118	cd05050	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	195	cd05046	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	127	cd07837	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	122_G	cd06917	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	110	cd06615	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	126	cd06605	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	116	cd05080	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	110	cd07846	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	144	cd06623	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	128	cd05089	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	132	cd06609	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	122	cd06624	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	124	cd06656	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	145	cd05056	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	151	cd05043	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	601299.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	159	cd06614	41349437,NP_004320
657	61252444	Disease	p.Cys124Arg	601299.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	129	pfam01064	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	145	cd08529	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	145	cd06646	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	145	cd06645	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	168	cd05049	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	160	cd06636	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	452	smart00219	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	231	pfam00069	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	314	pfam07714	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	600	smart00221	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	166	cd07835	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	166	cd05075	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	152	cd05074	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	162	cd05035	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	134	cd05115	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	157	cd07864	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	150	cd06637	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	148	cd05111	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	157	cd06658	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	507	smart00220	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	166	cd07838	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	144	cd05148	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	158	cd06632	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	189	cd07829	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	215	cd07830	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	144	cd06611	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	142	cd06626	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	174	cd05122	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	145	cd06625	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	185	cd07834	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	189	cd07840	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	148	cd05118	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	182	cd06608	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	163	cd05088	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	189	cd05053	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	173	cd07851	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	163	cd06638	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	655	cd05123	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	207	cd05572	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	439	cd00180	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	135	cd05579	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	151	cd05047	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	139	cd05577	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	144	cd05058	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	134	cd05116	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	141	cd05060	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	135	cd05041	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	142	cd05042	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	133	cd05084	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	133	cd05085	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	152	cd05044	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	147	cd05040	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	359	cd00192	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	140	cd05578	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	141	cd08223	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	142	cd07836	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	141	cd07861	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	203	cd05032	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	143	cd06631	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	229	cd06606	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	162	cd08528	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	140	cd08225	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	249	cd07842	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	144	cd05583	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	139	cd07860	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	138	cd07839	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	150	cd07863	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	278	cd05055	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	148	cd08530	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	199	cd08215	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	139	cd08219	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	156	cd07841	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	149	cd06627	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	140	cd08218	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	141	cd08221	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	149	cd08220	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	148	cd07857	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	141	cd05605	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	166	cd05045	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	159	cd07832	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	163	cd07865	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	163	cd05090	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	156	cd06659	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	148	cd05109	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	141	cd05067	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	163	cd05091	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	142	cd05073	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	166	cd05048	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	144	cd05068	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	159	cd05061	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	159	cd05093	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	160	cd05036	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	158	cd05062	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	147	cd05063	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	166	cd07833	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	142	cd06613	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	149	cd07849	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	155	cd06648	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	148	cd07852	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	160	cd07845	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	161	cd05092	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	201	cd05057	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	143	cd05052	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	145	cd05039	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	141	cd05082	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	140	cd06641	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	140	cd06642	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	146	cd08224	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	140	cd06640	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	145	cd08229	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	141	cd05059	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	140	cd05113	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	139	cd05114	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	146	cd05064	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	145	cd05066	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	145	cd05065	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	147	cd05081	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	148	cd05079	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	174	cd06639	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	141	cd05069	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	142	cd05072	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	141	cd05070	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	147	cd07856	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	141	cd05071	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	143	cd07844	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	139	cd05112	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	167	cd05038	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	177	cd05033	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	255	cd05581	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	146	cd05034	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	155	cd06622	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	139	cd05083	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	144	cd06617	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	154	cd06612	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	151	cd06610	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	149	cd06621	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	149	cd07862	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	145	cd07847	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	172	cd05050	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	225	cd05046	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	158	cd07837	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	150	cd06917	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	141	cd06615	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	158	cd06605	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	146	cd05080	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	140	cd07846	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	188	cd06623	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	158	cd05089	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	163	cd06609	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	153	cd06624	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	154	cd06656	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	175	cd05056	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	173	cd05043	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	601299.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	191	cd06614	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	222	cd06646	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	222	cd06645	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	241_G	cd05049	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	232	cd06636	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	643	smart00219	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	377	pfam00069	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	430	pfam07714	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	979	smart00221	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	252	cd07835	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	242	cd05075	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	225	cd05074	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	238	cd05035	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	208	cd05115	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	248	cd07864	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	222	cd06637	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	231	cd05111	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	227	cd06658	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	902	smart00220	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	274	cd07838	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	220	cd05148	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	236	cd06632	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	307	cd07829	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	351_G	cd07830	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	216	cd06611	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	261_G	cd06626	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	293	cd05122	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	239	cd06625	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	362	cd07834	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	370_G	cd07840	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	252	cd05118	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	286	cd06608	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	236	cd05088	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	266	cd05053	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	260	cd07851	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	250	cd06638	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	825	cd05123	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	283_G	cd05572	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	806	cd00180	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	767	cd05579	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	224	cd05047	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	259	cd05577	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	219	cd05058	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	208	cd05116	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	209	cd05060	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	207	cd05041	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	222	cd05042	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	205	cd05084	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	204	cd05085	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	229	cd05044	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	223	cd05040	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	461	cd00192	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	219	cd05578	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	225	cd08223	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	228	cd07836	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	227	cd07861	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	275	cd05032	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	219	cd06631	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	362	cd06606	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	243	cd08528	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	210	cd08225	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	373	cd07842	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	236	cd05583	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	225	cd07860	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	225	cd07839	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	234	cd07863	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	355	cd05055	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	216	cd08530	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	329	cd08215	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	229	cd08219	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	278	cd07841	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	276	cd06627	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	229	cd08218	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	234	cd08221	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	238	cd08220	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	242	cd07857	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	231	cd05605	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	238	cd05045	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	274	cd07832	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	280	cd07865	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	235	cd05090	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	222_G	cd06659	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	230	cd05109	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	225	cd05067	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	235	cd05091	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	214	cd05073	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	235	cd05048	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	219	cd05068	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	231	cd05061	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	231_G	cd05093	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	234	cd05036	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	230	cd05062	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	221	cd05063	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	331	cd07833	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	215	cd06613	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	250	cd07849	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	221_G	cd06648	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	254	cd07852	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	251	cd07845	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	231	cd05092	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	274	cd05057	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	218	cd05052	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	212	cd05039	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	210_G	cd05082	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	220	cd06641	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	224	cd06642	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	239	cd08224	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	222	cd06640	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	237	cd08229	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	213	cd05059	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	212	cd05113	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	211	cd05114	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	219	cd05064	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	219	cd05066	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	221	cd05065	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	228	cd05081	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	230	cd05079	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	261	cd06639	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	209	cd05069	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	214	cd05072	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	209	cd05070	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	230	cd07856	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	213	cd05071	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	230	cd07844	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	211	cd05112	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	264	cd05038	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	255	cd05033	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	463	cd05581	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	224	cd05034	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	257	cd06622	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	206	cd05083	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	242	cd06617	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	226	cd06612	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	249	cd06610	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	251	cd06621	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	234	cd07862	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	245	cd07847	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	242_G	cd05050	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	297	cd05046	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	244	cd07837	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	220	cd06917	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	225	cd06615	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	237	cd06605	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	220	cd05080	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	250	cd07846	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	277	cd06623	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	231	cd05089	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	238	cd06609	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	245	cd06624	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	232	cd06656	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	249	cd05056	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	257	cd05043	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	601299.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601299	JUVENILE POLYPOSIS SYNDROME	OMIM	284	cd06614	41349437,NP_004320
4593	261878455	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	No Domain	N/A	NULL
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	224	cd05100	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	258	cd07865	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	208	cd06612	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	189	cd06642	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	189	cd06641	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	189	cd06640	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	197	cd06613	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	193	cd07844	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	332	cd05107	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	329	cd05055	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	242	cd06614	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	185	cd05083	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	199	cd05110	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	199	cd05108	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	212	cd06635	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	782	smart00220	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	253	cd05057	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	268	cd05102	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	270	cd05103	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	319	cd05054	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	204	cd06629	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	217	cd05075	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	203	cd05074	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	213	cd05035	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	340	pfam00069	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	219	cd06609	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	843	smart00221	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	216	cd07835	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	577	smart00219	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	385	pfam07714	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	211	cd06618	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	197	cd06646	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	197	cd06645	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	204	cd06624	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	186	cd05115	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	189	cd05114	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	189	cd05112	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	190	cd05113	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	198	cd05080	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	199	cd05081	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	200	cd05079	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	233	cd05033	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	226	cd05038	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	199	cd05109	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	209	cd07864	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	211	cd05088	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	206	cd06616	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	199	cd05111	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	237	cd07838	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	288	cd07840	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	326	cd07830	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	233	cd05122	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	217	cd07852	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	194	cd08222	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	243	cd07829	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	233	cd06627	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	261	cd08217	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	204	cd06628	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	201	cd05118	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	214	cd06632	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	197	cd06630	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	202	cd06917	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	199	cd05047	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	732	cd05579	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	259	cd05572	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	183	cd05085	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	800	cd05123	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	673	cd00180	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	204	cd06648	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	312	cd05106	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	314	cd05104	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	330	cd05105	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	217	cd06638	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	235	cd06626	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	193	cd05060	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	186	cd05116	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	426	cd00192	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	219	cd05037	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	195	cd05078	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	197	cd05077	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	197	cd05058	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	202	cd05087	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	197	cd05086	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	201	cd05042	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	201	cd05040	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	207	cd05044	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	186	cd05041	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	184	cd05084	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	238	cd07866	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	195	cd08224	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	228	cd06639	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	205	cd06659	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	203	cd06644	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	202	cd06607	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	202	cd06634	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	230	cd05098	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	240	cd05053	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	227	cd05101	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	224	cd05099	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	195	cd07831	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	191	cd05059	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	196	cd06643	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	198	cd06611	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	210	cd05076	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	199	cd05063	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	197	cd05064	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	214	cd05091	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	194	cd05148	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	214	cd05090	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	217	cd05048	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	222	cd05049	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	223	cd05050	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	260	cd05051	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	212	cd05092	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	221	cd05097	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	275	cd05046	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	257	cd05096	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	231	cd05095	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	198	cd06631	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	220	cd05094	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	210	cd05093	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	227	cd05056	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	191	cd05071	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	197	cd05066	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	199	cd05065	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	193	cd05052	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	187	cd05082	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	192	cd05072	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	191	cd05067	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	194	cd05039	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	191	cd05069	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	202	cd05034	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	191	cd05070	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	192	cd05073	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	197	cd05068	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	210	cd05061	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	209	cd05062	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	212	cd05036	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	254	cd05032	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	235	cd05043	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	241	cd06608	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	245	cd07843	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	248	cd07833	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	212	cd06610	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	197	cd06621	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	212	cd06605	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	247	cd06623	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	194	cd06620	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	191	cd07846	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	196	cd07847	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	439	cd05581	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	198	cd07862	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	212	cd07845	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	194	cd08228	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	194	cd08229	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	208	cd07837	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	285	cd05574	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	188	cd06615	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	198	cd06625	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	206	cd05089	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	192	cd07871	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	217	cd05045	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	189	cd08218	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	226	cd07841	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	334	cd06606	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	199	cd05578	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	192	cd08221	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	188	cd07839	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	198	cd08220	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	190	cd08225	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	196	cd08530	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	211	cd07832	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	304	cd07842	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	188	cd08219	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	198	cd07863	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	192	cd07836	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	206	cd07857	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	257	cd08215	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	211	cd08528	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	190	cd08223	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	189	cd07860	5031927,NP_005583
4593	50400806	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	194	cd08529	5031927,NP_005583
4593	261878457	Disease	p.Val790Met	601296.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601296	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	No Domain	N/A	NULL
6555	2833238	Disease	p.Leu243Pro	601295.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601295	BILE ACID MALABSORPTION, PRIMARY	OMIM	303	COG0385	4506973,NP_000443
6555	2833238	Disease	p.Leu243Pro	601295.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601295	BILE ACID MALABSORPTION, PRIMARY	OMIM	304	COG0798	4506973,NP_000443
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	296	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	274	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	271_G	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	269	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198_G	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	188_G	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	206_G	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	201_G	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	213_G	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187_G	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207_G	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	201	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	205	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	209	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	209	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	432_G	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	220_G	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	214_G	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	203_G	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	260_G	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	808	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	681	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	205	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	192	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208_G	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	247	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	203_G	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	203_G	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	209	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	251	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	790	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	225	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	210	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	216	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219_G	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	190_G	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207_G	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	216	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	217	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	206	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	221	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202_G	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	225_G	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	199	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	454	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	236_G	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	217_G	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	221	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	196_G	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197_G	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	201	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	196_G	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197_G	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	199	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194_G	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194_G	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	238_G	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	234	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	231	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	283	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	215_G	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	271	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	227_G	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	241_G	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	255	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	242_G	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	230_G	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	246_G	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	222	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204_G	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	218	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	217_G	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	232	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	200_G	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	212	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	213	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	247_G	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	201_G	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202_G	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202_G	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	205_G	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204_G	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	206_G	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	196_G	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	864	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	586	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	348	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	393	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	211	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	225	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	221	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	264	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	258_G	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194_G	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	265_G	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	206	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	241	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	340_G	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	239_G	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	203_G	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	234_G	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	225_G	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	215_G	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219_G	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	192_G	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219_G	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202_G	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	232_G	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204_G	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202_G	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	244	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	231	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	217_G	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	235_G	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	233_G	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204_G	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	218	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	212	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	296	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	274	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	271_G	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	269	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198_G	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	188_G	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	206_G	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	201_G	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	213_G	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187_G	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207_G	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	201	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	205	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	209	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	209	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	432_G	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	220_G	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	214_G	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	203_G	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	260_G	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	808	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	681	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	205	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	192	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208_G	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	247	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	203_G	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	203_G	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	209	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	251	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	790	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	225	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	210	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	216	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219_G	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	190_G	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207_G	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	216	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	217	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	206	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	221	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202_G	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	225_G	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	199	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	454	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	236_G	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	217_G	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	221	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	196_G	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197_G	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	201	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	196_G	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197_G	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	199	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194_G	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194_G	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	238_G	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	234	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	231	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	283	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	215_G	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	271	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	227_G	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	241_G	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	255	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	242_G	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	230_G	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	246_G	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	222	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204_G	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	218	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	217_G	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	232	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	200_G	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	212	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	213	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	247_G	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	201_G	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202_G	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202_G	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	205_G	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204_G	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	206_G	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	196_G	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	864	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	586	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	348	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	393	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	211	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	225	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	221	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	264	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	258_G	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194_G	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	265_G	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	206	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	241	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	340_G	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	239_G	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	203_G	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	234_G	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	225_G	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	215_G	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219_G	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	192_G	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219_G	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202_G	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	232_G	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204_G	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202_G	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	244	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	231	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	217_G	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	235_G	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	233_G	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204_G	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	218	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	601284.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	212	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	228	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	215	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	242	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	238	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	176	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	163	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	180	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	169	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	186	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	162	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	173	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	172_G	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	176	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	165	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	178	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	398	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	189	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	183	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	170	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	233	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	736	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	627	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	167	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	161	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	183	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	216	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	173	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	173	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	171	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	179	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	221	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	707	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	186	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	180	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	185	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	189	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	164	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	181	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	167	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	186	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	174	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	177	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	190	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	171	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	196	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	169	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	404	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	209	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	189	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	190	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	168	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	170	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	171	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	170	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	170	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	171	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	170	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	168	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	168	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	168	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	169	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	212	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	202	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	202	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	254	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	188	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	168	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	233	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	201	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	214	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	173	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	221	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	202	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	203	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	219	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	188	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	178	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	178	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	191	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	191	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	172	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	181	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	173_G	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	210	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	173	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	174	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	176	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	178	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	178	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	179	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	170	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	770	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	180	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	554	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	296	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	349	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	182	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	196	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	192	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	221	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	232	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	167	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	189	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	173	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	169	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	235	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	177	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	207	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	168	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	173	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	283	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	210	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	177	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	175	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	166	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	202	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	199	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	189	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	193	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	166	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	193	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	176	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	206	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	178	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	176	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	196	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	200	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	191	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	210	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	206	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	178	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	187	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	178	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	228	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	215	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	242	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	238	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	176	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	163	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	180	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	169	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	186	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	162	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	173	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	172_G	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	176	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	165	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	178	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	398	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	189	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	183	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	170	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	233	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	736	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	627	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	167	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	161	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	183	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	216	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	173	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	173	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	171	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	179	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	221	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	707	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	186	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	180	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	185	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	189	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	164	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	181	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	167	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	186	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	174	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	177	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	190	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	171	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	196	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	169	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	404	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	209	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	189	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	190	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	168	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	170	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	171	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	170	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	170	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	171	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	170	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	168	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	168	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	168	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	169	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	212	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	202	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	202	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	254	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	188	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	168	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	233	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	201	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	214	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	173	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	221	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	202	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	203	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	219	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	188	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	178	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	178	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	191	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	191	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	172	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	181	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	173_G	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	210	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	173	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	174	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	176	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	178	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	178	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	179	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	170	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	770	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	180	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	554	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	296	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	349	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	182	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	196	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	192	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	221	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	232	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	167	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	189	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	173	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	169	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	235	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	177	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	207	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	168	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	173	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	283	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	210	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	177	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	175	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	166	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	202	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	199	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	189	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	193	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	166	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	193	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	176	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	206	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	178	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	176	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	196	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	200	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	191	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	210	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	206	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	178	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	187	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	601284.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	178	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp150Cys	601284.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	No Domain	N/A	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp150Cys	601284.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	No Domain	N/A	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala49Pro	601284.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	57	pfam01064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala49Pro	601284.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	57	pfam01064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	283	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	243	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	259	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	256	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	193	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	179	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	196	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	192	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	202	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	178	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	196	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	188	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	192	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	181	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	194	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	421	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	209	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	203	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	192	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	249	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	795	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	668	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	184	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	178	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	199	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	233	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	192	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	192	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	187	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	196	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	238	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	777	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	207	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	197	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	201	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	207	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	180	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	197	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	183	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	203	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	191	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	193	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	206	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	191	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	214	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	186	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	434	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	225	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	205	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	207	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	184	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	186	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	187	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	186	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	186	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	187	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	186	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	184	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	184	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	184	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	185	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	228	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	221	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	218	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	270	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	204	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	184	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	255	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	217	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	230	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	189	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	242	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	230	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	219	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	235	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	209	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	194	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	194	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	207	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	212	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	188	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	199	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	189	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	236	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	189	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	190	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	192	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	194	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	194	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	195	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	186	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	838	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	199	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	572	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	335	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	380	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	198	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	212	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	208	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	237	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	248	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	183	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	206	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	189	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	185	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	252	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	193	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	228	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	184	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	194	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	329	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	228	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	193	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	191	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	183	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	223	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	215	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	205	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	209	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	182	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	209	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	192	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	222	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	194	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	192	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	212	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	216	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	207	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	226	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	222	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	194	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	204	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	199	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	283	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	243	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	259	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	256	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	193	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	179	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	196	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	192	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	202	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	178	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	196	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	188	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	192	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	181	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	194	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	421	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	209	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	203	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	192	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	249	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	795	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	668	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	184	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	178	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	199	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	233	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	192	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	192	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	187	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	196	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	238	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	777	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	207	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	197	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	201	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	207	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	180	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	197	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	183	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	203	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	191	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	193	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	206	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	191	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	214	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	186	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	434	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	225	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	205	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	207	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	184	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	186	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	187	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	186	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	186	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	187	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	186	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	184	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	184	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	184	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	185	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	228	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	221	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	218	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	270	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	204	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	184	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	255	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	217	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	230	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	189	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	242	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	230	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	219	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	235	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	209	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	194	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	194	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	207	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	212	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	188	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	199	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	189	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	236	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	189	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	190	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	192	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	194	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	194	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	195	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	186	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	838	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	199	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	572	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	335	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	380	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	198	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	212	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	208	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	237	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	248	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	183	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	206	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	189	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	185	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	252	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	193	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	228	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	184	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	194	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	329	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	228	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	193	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	191	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	183	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	223	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	215	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	205	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	209	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	182	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	209	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	192	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	222	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	194	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	192	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	212	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	216	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	207	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	226	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	222	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	194	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	204	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	601284.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2	OMIM	199	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	226	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	213	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	240	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	236	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	174	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	161_G	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	178	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	167	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	184	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	160_G	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	171	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	171	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	174_G	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	163_G	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	176	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	396	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	181	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	168	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	231	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	734	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	625	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	165	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	159	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	181	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	171	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	171	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	169	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	177	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	664	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	184	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	178	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	183	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	162_G	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	179	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	165	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	184	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	172	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	175_G	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	188	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	169	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	167	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	402	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207_G	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	188	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	166	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	168	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	169	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	168	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	168	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	169	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	168	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	166	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	166	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	166	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	167	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	210	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	200	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	200	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	252	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	186	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	166	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	231	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	199	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	212	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	171_G	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	200	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	201_G	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	217_G	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	186	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	176_G	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	176_G	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	189	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	189	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	170	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	179	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	173_G	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	171	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	172	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	174	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	176	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	176	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	177	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	168	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	727	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	178	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	552	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	294	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	347	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	180_G	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194_G	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	190_G	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	230_G	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	165	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	171	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	167	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	233	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	175	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	205	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	166	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	171	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	281	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	175	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	173	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	164	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	200	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	191	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	164	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	191	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	174_G	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204_G	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	176	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	174_G	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	189_G	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204_G	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	176_G	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	185	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	176	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	226	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	213	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	240	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	236	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	174	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	161_G	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	178	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	167	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	184	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	160_G	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	171	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	171	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	174_G	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	163_G	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	176	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	396	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	181	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	168	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	231	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	734	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	625	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	165	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	159	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	181	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	171	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	171	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	169	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	177	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	664	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	184	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	178	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	183	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	162_G	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	179	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	165	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	184	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	172	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	175_G	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	188	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	169	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	167	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	402	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207_G	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	188	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	166	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	168	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	169	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	168	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	168	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	169	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	168	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	166	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	166	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	166	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	167	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	210	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	200	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	200	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	252	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	186	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	166	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	231	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	199	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	212	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	171_G	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	200	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	201_G	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	217_G	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	186	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	176_G	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	176_G	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	189	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	189	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	170	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	179	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	173_G	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	171	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	172	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	174	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	176	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	176	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	177	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	168	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	727	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	178	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	552	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	294	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	347	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	180_G	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194_G	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	190_G	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	230_G	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	165	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	171	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	167	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	233	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	175	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	205	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	166	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	171	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	281	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	175	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	173	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	164	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	200	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	191	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	164	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	191	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	174_G	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204_G	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	176	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	174_G	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	189_G	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204_G	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	176_G	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	185	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	601284.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	176	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	296	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	274	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	271_G	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	269	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198_G	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	188_G	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	206_G	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	201_G	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	213_G	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187_G	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207_G	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	201	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	205	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	209	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	209	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	432_G	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	220_G	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	214_G	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	203_G	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	260_G	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	808	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	681	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	205	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	192	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208_G	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	247	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	203_G	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	203_G	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	209	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	251	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	790	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	225	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	210	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	216	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219_G	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	190_G	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207_G	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	216	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	217	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	206	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	221	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202_G	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	225_G	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	199	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	454	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	236_G	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	217_G	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	221	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	196_G	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197_G	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	201	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	196_G	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197_G	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	199	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194_G	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194_G	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	238_G	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	234	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	231	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	283	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	215_G	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	271	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	227_G	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	241_G	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	255	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	242_G	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	230_G	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	246_G	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	222	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204_G	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	218	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	217_G	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	232	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	200_G	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	212	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	213	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	247_G	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	201_G	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202_G	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202_G	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	205_G	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204_G	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	206_G	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	196_G	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	864	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	586	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	348	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	393	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	211	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	225	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	221	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	264	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	258_G	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194_G	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	265_G	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	206	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	241	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	340_G	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	239_G	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	203_G	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	234_G	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	225_G	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	215_G	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219_G	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	192_G	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219_G	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202_G	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	232_G	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204_G	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202_G	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	244	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	231	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	217_G	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	235_G	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	233_G	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204_G	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	218	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	212	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	296	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	274	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	271_G	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	269	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198_G	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	188_G	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	206_G	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	201_G	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	213_G	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187_G	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207_G	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	201	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	205	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	209	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	209	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	432_G	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	220_G	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	214_G	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	203_G	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	260_G	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	808	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	681	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	205	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	192	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208_G	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	247	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	203_G	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	203_G	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	209	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	251	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	790	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	225	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	210	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	216	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219_G	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	190_G	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207_G	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	216	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	217	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	206	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	221	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202_G	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	225_G	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	199	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	454	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	236_G	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	217_G	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	221	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	196_G	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197_G	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	201	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	196_G	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197_G	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	199	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194_G	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194_G	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	238_G	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	234	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	231	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	283	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	215_G	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	271	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	227_G	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	241_G	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	255	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	242_G	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	230_G	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	246_G	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	222	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204_G	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	218	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	217_G	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	232	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	200_G	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	212	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	213	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	247_G	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	201_G	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202_G	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202_G	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	205_G	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204_G	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	206_G	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	196_G	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	864	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	586	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	348	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	393	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	211	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	225	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	221	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	264	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	258_G	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194_G	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	265_G	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	206	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	241	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	340_G	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	239_G	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	203_G	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	234_G	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	225_G	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	215_G	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219_G	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	192_G	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219_G	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202_G	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	232_G	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204_G	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202_G	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	244	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	231	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	217_G	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	235_G	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	233_G	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204_G	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	218	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	601284.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	212	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	393	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	322	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	262	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	245	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	264	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	262	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	268	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	244	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	266	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	258	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	260	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	518	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	276	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	265	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	319	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	924	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	866	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	269	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	346	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	261	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	261	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	358	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	1227	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	269	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	267	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	288	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	246	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	265	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	321	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	295	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	297	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	273	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	293	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	297	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	301	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	291	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	271	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	307_G	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	258	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	252	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	253	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	278	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	252	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	253	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	252	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	272	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	250	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	250	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	251	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	294	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	321	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	284	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	338	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	270	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	270	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	345	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	293	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	288	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	336	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	303	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	285	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	302	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	260	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	299	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	281	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	254	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	266	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	257	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	262	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	258	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	275	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	260	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	275	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	252	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	695	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	467	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	477	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	264	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	278	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	275	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	314	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	250	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	331	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	284	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	282	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	276	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	254_G	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	279	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	296	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	334	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	271	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	275	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	248	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	275	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	258	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	289	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	260	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	258	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	290	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	273	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	301	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	288	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	260	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	297_G	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	393	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	322	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	262	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	245	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	264	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	262	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	268	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	244	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	266	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	258	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	260	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	518	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	276	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	265	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	319	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	924	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	866	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	269	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	346	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	261	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	261	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	358	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	1227	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	269	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	267	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	288	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	246	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	265	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	321	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	295	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	297	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	273	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	293	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	297	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	301	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	291	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	271	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	307_G	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	258	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	252	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	253	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	278	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	252	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	253	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	252	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	272	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	250	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	250	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	251	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	294	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	321	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	284	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	338	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	270	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	270	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	345	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	293	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	288	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	336	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	303	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	285	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	302	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	260	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	299	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	281	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	254	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	266	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	257	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	262	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	258	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	275	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	260	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	275	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	252	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	695	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	467	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	477	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	264	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	278	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	275	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	314	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	250	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	331	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	284	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	282	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	276	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	254_G	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	279	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	296	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	334	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	271	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	275	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	248	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	275	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	258	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	289	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	260	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	258	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	290	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	273	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	301	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	288	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	260	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	601284.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	297_G	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	14	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	10	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	13	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	14	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	14	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	19	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	4	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	4	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	4	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	4	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	30	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	20	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	20	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	20	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	10	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	13	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	18	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	13	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	19	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	29	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	18	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	24	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	18	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	23	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	23	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	27	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	18	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	18	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	29	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	19	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	13	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	13	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	10	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	10	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	10	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	14	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	10	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	10	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	10	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	31	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	29	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	18	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	18	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	33	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	26	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	18	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	18	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	14	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	10	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	13	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	6	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	14	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	14	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	19	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	4	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	4	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	4	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	4	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	30	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	20	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	20	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	20	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	10	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	13	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	18	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	13	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	19	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	29	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	18	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	24	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	18	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	23	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	23	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	27	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	18	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	18	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	29	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	19	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	13	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	13	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	15	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	10	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	10	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	10	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	14	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	10	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	10	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	10	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	31	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	29	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	18	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	18	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	12	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	11	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	33	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	16	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	26	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	18	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	18	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	601284.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	17	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	189	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	166	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	213	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	210	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	145	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	133	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	147	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	139	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	152	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	133	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	142	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	144	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	135	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	151	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	359	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	158	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	154	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	142	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	203	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	655	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	439	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	139	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	134	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	155	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	170	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	145	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	145	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	148	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	189	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	507	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	158	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	150	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	158	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	151	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	139	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	146	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	157	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	145	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	146	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	163	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	144	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	163	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	140	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	255	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	179	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	159	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	160	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	140	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	142	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	142	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	140	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	139	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	139	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	140	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	177	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	171	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	172	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	225	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	158	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	140	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	171	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	184	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	144	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	188	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	142	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	173	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	189	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	160	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	148	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	148	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	161	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	163	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	143	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	152	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	145	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	182	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	145	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	146	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	145	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	147	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	145	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	148	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	600	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	149	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	452	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	231	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	314	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	152	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	166	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	162	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	191	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	201	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	139	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	159	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	145	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	199	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	150	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	174	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	140	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	229	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	149	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	150	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	148	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	138	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	174	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	162	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	159	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	163	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	163	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	144	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	175	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	147	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	146	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	166	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	170	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	160	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	180	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	176	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	148	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	157	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	150	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	189	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	166	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	213	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	210	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	145	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	133	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	147	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	139	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	152	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	133	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	142	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	144	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	135	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	151	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	359	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	158	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	154	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	142	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	203	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	655	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	439	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	139	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	134	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	155	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	170	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	145	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	145	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	148	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	189	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	507	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	158	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	150	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	158	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	151	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	139	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	146	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	157	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	145	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	146	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	163	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	144	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	163	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	140	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	255	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	179	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	159	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	160	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	140	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	142	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	142	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	140	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	139	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	139	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	140	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	177	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	171	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	172	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	225	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	158	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	140	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	171	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	184	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	144	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	188	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	142	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	173	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	189	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	160	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	148	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	148	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	161	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	163	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	143	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	152	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	145	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	182	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	145	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	146	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	145	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	147	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	145	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	148	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	600	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	149	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	452	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	231	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	314	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	152	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	166	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	162	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	191	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	201	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	139	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	159	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	145	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	199	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	150	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	174	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	140	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	229	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	149	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	150	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	148	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	138	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	174	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	162	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	159	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	163	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	141	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	163	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	144	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	175	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	147	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	146	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	166	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	170	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	160	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	180	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	176	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	148	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	157	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	601284.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2||PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	150	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	284	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	244	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	260	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	257	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	180	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	193	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	203	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	179	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	189	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	193	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	182	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	195	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	422	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	210	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	193	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	250	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	796	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	669	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	185	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	179	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	200	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	234	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	193	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	193	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	188	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	239	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	778	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	181	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	184	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	192	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	192	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	215	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	435	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	226	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	206	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	185	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	188	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	188	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	185	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	185	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	185	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	186	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	229	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	222	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	271	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	205	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	185	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	256	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	218	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	231	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	190	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	243	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	231	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	220	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	236	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	210	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	195	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	195	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	213	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	189	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	200	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	190	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	237	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	190	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	191	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	193	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	195	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	195	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	196	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	839	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	200	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	573	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	336	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	381	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	199	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	213	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	209	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	238	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	249	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	184	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	190	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	186	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	253	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	229	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	185	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	195	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	330	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	229	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	192	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	184	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	224	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	216	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	206	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	210	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	183	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	210	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	193	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	223	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	195	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	193	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	213	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	217	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	227	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	223	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	195	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	205	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	200	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	284	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	244	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	260	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	257	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	180	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	193	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	203	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	179	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	189	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	193	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	182	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	195	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	422	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	210	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	193	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	250	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	796	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	669	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	185	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	179	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	200	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	234	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	193	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	193	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	188	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	197	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	239	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	778	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	202	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	181	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	198	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	184	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	204	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	192	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	192	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	215	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	435	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	226	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	206	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	185	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	188	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	188	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	185	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	185	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	185	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	186	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	229	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	222	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	219	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	271	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	205	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	185	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	256	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	218	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	231	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	190	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	243	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	231	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	220	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	236	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	210	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	195	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	195	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	213	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	189	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	200	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	190	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	237	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	190	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	191	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	193	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	195	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	195	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	196	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	187	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	839	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	200	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	573	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	336	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	381	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	199	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	213	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	209	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	238	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	249	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	184	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	207	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	190	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	186	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	253	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	229	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	185	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	195	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	330	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	229	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	194	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	192	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	184	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	224	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	216	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	206	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	210	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	183	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	210	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	193	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	223	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	195	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	193	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	213	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	217	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	208	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	227	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	223	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	195	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	205	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	601284.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	OMIM	200	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	296	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	274	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	271_G	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	269	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	198_G	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	188_G	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	206_G	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	201_G	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	213_G	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	187_G	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	207_G	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	201	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	205	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	209	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	209	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	432_G	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	220_G	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	214_G	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	203_G	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	260_G	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	808	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	681	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	205	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	192	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	208_G	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	247	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	203_G	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	203_G	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	202	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	209	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	251	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	790	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	225	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	210	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	216	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	219_G	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	190_G	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	207_G	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	207	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	216	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	217	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	206	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	221	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	202_G	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	225_G	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	199	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	454	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	236_G	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	217_G	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	221	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	197	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	196_G	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	197_G	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	201	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	196_G	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	197_G	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	199	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	197	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	194_G	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	194_G	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	198	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	238_G	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	234	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	231	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	283	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	215_G	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	197	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	271	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	227_G	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	241_G	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	202	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	255	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	242_G	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	230_G	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	246_G	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	222	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	204_G	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	218	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	217_G	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	232	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	200_G	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	212	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	213	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	247_G	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	201_G	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	202_G	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	202_G	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	205_G	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	204_G	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	206_G	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	196_G	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	864	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	219	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	586	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	348	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	393	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	211	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	225	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	221	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	264	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	258_G	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	194_G	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	219	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	219	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	208	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	265_G	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	206	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	241	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	198	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	207	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	340_G	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	239_G	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	208	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	203_G	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	198	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	234_G	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	225_G	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	215_G	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	219_G	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	192_G	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	219_G	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	202_G	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	232_G	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	204_G	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	202_G	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	244	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	231	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	217_G	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	235_G	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	233_G	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	204_G	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	218	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	212	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	296	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	274	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	271_G	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	269	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	198_G	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	188_G	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	206_G	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	201_G	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	213_G	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	187_G	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	207_G	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	201	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	205	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	209	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	209	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	432_G	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	220_G	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	214_G	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	203_G	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	260_G	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	808	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	681	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	205	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	192	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	208_G	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	247	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	203_G	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	203_G	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	202	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	209	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	251	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	790	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	225	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	210	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	216	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	219_G	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	190_G	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	207_G	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	207	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	216	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	217	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	206	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	221	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	202_G	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	225_G	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	199	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	454	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	236_G	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	217_G	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	221	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	197	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	196_G	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	197_G	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	201	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	196_G	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	197_G	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	199	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	197	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	194_G	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	194_G	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	198	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	238_G	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	234	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	231	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	283	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	215_G	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	197	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	271	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	227_G	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	241_G	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	202	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	255	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	242_G	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	230_G	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	246_G	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	222	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	204_G	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	218	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	217_G	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	232	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	200_G	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	212	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	213	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	247_G	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	201_G	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	202_G	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	202_G	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	205_G	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	204_G	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	206_G	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	196_G	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	864	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	219	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	586	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	348	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	393	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	211	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	225	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	221	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	264	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	258_G	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	194_G	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	219	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	219	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	208	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	265_G	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	206	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	241	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	198	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	207	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	340_G	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	239_G	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	208	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	203_G	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	198	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	234_G	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	225_G	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	215_G	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	219_G	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	192_G	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	219_G	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	202_G	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	232_G	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	204_G	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	202_G	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	244	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	231	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	217_G	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	235_G	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	233_G	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	204_G	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	218	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	601284.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II	OMIM	212	cd06637	116734714,NP_001070869|116734712,NP_000011
5339	209572726	Disease	p.Arg2110Trp	601282.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601282	EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE	OMIM	No Domain	N/A	41322916,NP_958782
5339	41322923	Disease	p.Arg2110Trp	601282.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601282	EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE	OMIM	No Domain	N/A	NULL
5339	41322908	Disease	p.Arg2110Trp	601282.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601282	EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE	OMIM	No Domain	N/A	NULL
5339	41322910	Disease	p.Arg2110Trp	601282.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601282	EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE	OMIM	No Domain	N/A	NULL
5339	41322919	Disease	p.Arg2110Trp	601282.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601282	EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE	OMIM	No Domain	N/A	NULL
5339	41322914	Disease	p.Arg2110Trp	601282.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601282	EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE	OMIM	No Domain	N/A	NULL
5339	47607492	Disease	p.Arg2110Trp	601282.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601282	EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE	OMIM	No Domain	N/A	NULL
5339	41322912	Disease	p.Arg2110Trp	601282.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601282	EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE	OMIM	No Domain	N/A	NULL
729230	183979982	Disease	p.Val64Ile	601267.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601267	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO	OMIM	No Domain	N/A	NULL
729230	1168965	Disease	p.Val64Ile	601267.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601267	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO	OMIM	No Domain	N/A	183979980,NP_001116513
4838	166214958	Disease	p.Arg183Gln	601265.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601265	HETEROTAXY, VISCERAL, 5, AUTOSOMAL	OMIM	No Domain	N/A	222352098,NP_060525
4838	166214958	Disease	p.Gly260Arg	601265.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601265	HETEROTAXY, VISCERAL, 5, AUTOSOMAL	OMIM	18	pfam00019	222352098,NP_060525
4838	166214958	Disease	p.Gly260Arg	601265.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601265	HETEROTAXY, VISCERAL, 5, AUTOSOMAL	OMIM	15	smart00204	222352098,NP_060525
5605	547915	Disease	p.Phe57Cys	601263.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	24	cd05596	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	601263.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd07877	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	601263.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	12	cd05097	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	601263.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd06652	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	601263.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	10	cd07875	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	601263.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd06659	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	601263.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	8	cd07876	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	601263.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	8	cd06657	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	601263.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	24	cd05621	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	601263.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	24	cd05622	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	601263.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	7	cd06658	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	601263.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	11	cd06656	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	601263.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	11	cd06655	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	601263.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	11	cd06647	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	601263.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	12	cd06654	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	601263.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	11	cd06648	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	601263.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	11	cd06614	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	601263.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	7	cd06639	13489054,NP_109587
5605	547915	Disease	p.Phe57Val	601263.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	24	cd05596	13489054,NP_109587
5605	547915	Disease	p.Phe57Val	601263.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd07877	13489054,NP_109587
5605	547915	Disease	p.Phe57Val	601263.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	12	cd05097	13489054,NP_109587
5605	547915	Disease	p.Phe57Val	601263.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd06652	13489054,NP_109587
5605	547915	Disease	p.Phe57Val	601263.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	10	cd07875	13489054,NP_109587
5605	547915	Disease	p.Phe57Val	601263.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd06659	13489054,NP_109587
5605	547915	Disease	p.Phe57Val	601263.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	8	cd07876	13489054,NP_109587
5605	547915	Disease	p.Phe57Val	601263.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	8	cd06657	13489054,NP_109587
5605	547915	Disease	p.Phe57Val	601263.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	24	cd05621	13489054,NP_109587
5605	547915	Disease	p.Phe57Val	601263.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	24	cd05622	13489054,NP_109587
5605	547915	Disease	p.Phe57Val	601263.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	7	cd06658	13489054,NP_109587
5605	547915	Disease	p.Phe57Val	601263.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	11	cd06656	13489054,NP_109587
5605	547915	Disease	p.Phe57Val	601263.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	11	cd06655	13489054,NP_109587
5605	547915	Disease	p.Phe57Val	601263.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	11	cd06647	13489054,NP_109587
5605	547915	Disease	p.Phe57Val	601263.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	12	cd06654	13489054,NP_109587
5605	547915	Disease	p.Phe57Val	601263.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	11	cd06648	13489054,NP_109587
5605	547915	Disease	p.Phe57Val	601263.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	11	cd06614	13489054,NP_109587
5605	547915	Disease	p.Phe57Val	601263.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	7	cd06639	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	76	cd06616	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05089	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd05079	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	94	cd06608	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd06637	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	95	cd05033	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05114	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05113	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05059	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06643	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05112	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05083	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	76	cd05038	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	109	cd05596	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	87	cd06633	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd06624	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	95	cd07834	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd05614	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd07859	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd07832	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd08227	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05615	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05632	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05605	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05630	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05631	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05045	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd05587	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	77	cd07853	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	160	cd07842	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd06651	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd07857	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd06628	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd08223	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd08222	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd08221	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd07841	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05578	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd07839	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06631	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd06627	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	130	cd06606	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd08530	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd07836	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd08215	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd07861	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd07860	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd08220	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd08529	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd05122	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05616	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd08219	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd08225	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd07863	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd06630	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd08217	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd05613	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd05583	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd08528	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd08218	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05627	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd06619	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05629	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05628	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd07837	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06621	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd06615	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd07855	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05601	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd05600	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05612	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd05599	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd06625	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd08229	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd08228	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05626	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05623	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd06609	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd05598	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd06917	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06617	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05609	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	87	cd07833	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd07862	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd07847	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd06610	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	95	cd07848	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd07843	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd07846	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd08224	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd06605	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd06623	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd06622	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	115	cd05580	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	121	cd05573	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	118	cd05581	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	366	COG0515	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05597	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05624	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd07856	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	87	cd05574	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd07870	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	76	cd06612	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd07844	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd07871	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06613	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd07869	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd07852	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd05081	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	97	cd07854	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd07831	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	298	smart00221	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	102	pfam00069	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd05118	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd07835	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd07829	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	220	smart00219	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	77	cd07838	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	99	cd07830	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd05589	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd05080	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd07840	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05625	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	101	pfam07714	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	201	smart00220	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd07877	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06626	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd05584	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd05582	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd07878	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	87	cd07851	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd07880	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd06618	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	81	cd06607	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	81	cd06634	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd07849	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd06611	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd06645	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06641	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06640	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06642	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd06653	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd05065	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	91	cd06635	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd07874	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd05097	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd06652	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	89	cd07875	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05585	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05604	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05593	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05608	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd05633	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05085	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05591	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05620	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05047	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	100	cd05123	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd06632	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd05570	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05617	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	108	cd05572	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05618	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05586	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05594	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	178	cd00180	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05044	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05571	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05602	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05595	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05579	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05577	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05607	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd05606	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd05611	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05115	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd05036	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd07872	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd07864	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd07845	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd07873	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd06659	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd07876	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd06657	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	109	cd05621	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	109	cd05622	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd05110	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd05109	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd05108	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd07866	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd05088	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	124	cd05057	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd06629	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd06658	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd07850	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	81	cd06638	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd05099	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd06656	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd06655	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd06647	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd06654	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd06648	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	94	cd06614	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd06644	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	96	cd07865	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd06636	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd07858	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	102	cd05056	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd05063	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd05066	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd05052	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05071	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd06650	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05067	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd06649	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	106	cd05032	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05070	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05068	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd05050	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05069	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd05049	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05073	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05082	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd05048	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd05092	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd06620	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd05061	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd05094	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05148	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd05090	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05072	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05034	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd08226	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd08216	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05619	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05592	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05058	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05116	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	117	cd00192	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05588	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05084	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05040	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05041	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05603	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05590	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05060	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05575	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd05111	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd06646	13489054,NP_109587
5605	547915	Disease	p.Tyr134His	601263.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd06639	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd06616	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd05089	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05079	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd06608	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd06637	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	89	cd05033	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05114	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05113	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05059	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd06643	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05112	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05083	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd05038	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	103	cd05596	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	81	cd06633	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd06624	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	89	cd07834	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05614	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd07859	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd07832	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd08227	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05615	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05632	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05605	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05630	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05631	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd05045	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05587	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd07853	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	154	cd07842	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd06651	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd07857	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06628	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd08223	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd08222	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd08221	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd07841	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05578	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd07839	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd06631	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd06627	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	124	cd06606	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd08530	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd07836	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	78	cd08215	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd07861	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd07860	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd08220	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd08529	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	76	cd05122	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05616	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd08219	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd08225	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd07863	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd06630	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd08217	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05613	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05583	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	78	cd08528	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd08218	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05627	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd06619	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05629	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05628	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd07837	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd06621	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd06615	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd07855	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05601	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05600	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05612	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05599	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd06625	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd08229	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd08228	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05626	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05623	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd06609	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05598	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06917	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd06617	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05609	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	81	cd07833	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd07862	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd07847	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd06610	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	89	cd07848	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd07843	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd07846	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd08224	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd06605	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd06623	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd06622	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	109	cd05580	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	115	cd05573	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	112	cd05581	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	301	COG0515	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05597	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05624	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd07856	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	81	cd05574	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd07870	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd06612	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd07844	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd07871	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd06613	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd07869	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd07852	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05081	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd07854	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd07831	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	291	smart00221	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	pfam00069	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05118	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd07835	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd07829	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	214	smart00219	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd07838	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	93	cd07830	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05589	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05080	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd07840	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05625	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	95	pfam07714	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	190	smart00220	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	76	cd07877	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd06626	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd05584	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd05582	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd07878	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	81	cd07851	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd07880	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd06618	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd06607	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd06634	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd07849	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd06611	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06645	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd06641	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd06640	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd06642	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd06653	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05065	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd06635	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	76	cd07874	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd05097	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65_G	cd06652	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd07875	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd05585	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05604	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd05593	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd05608	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05633	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd05085	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05591	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05620	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05047	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	94	cd05123	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd06632	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd05570	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05617	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	102	cd05572	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05618	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05586	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd05594	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	172	cd00180	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05044	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd05571	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05602	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd05595	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd05579	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05577	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd05607	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd05606	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05611	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd05115	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05036	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd07872	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd07864	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd07845	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd07873	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	78	cd06659	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd07876	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	77	cd06657	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	103	cd05621	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	103	cd05622	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05110	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05109	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05108	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd07866	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd05088	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	118	cd05057	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06629	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd06658	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	76	cd07850	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd06638	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	78	cd05099	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	76	cd06656	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	76	cd06655	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	76	cd06647	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	77	cd06654	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	76	cd06648	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd06614	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd06644	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd07865	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd06636	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd07858	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	96	cd05056	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05063	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05066	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05052	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05071	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd06650	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05067	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd06649	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	100	cd05032	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05070	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05068	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd05050	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05069	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd05049	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05073	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05082	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05048	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05092	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd06620	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05061	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05094	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd05148	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05090	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05072	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05034	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd08226	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd08216	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05619	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05592	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd05058	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05116	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	111	cd00192	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05588	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd05084	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05040	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd05041	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05603	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05590	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05060	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05575	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05111	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06646	13489054,NP_109587
5605	547915	Disease	p.Pro128Gln	601263.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601263	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd06639	13489054,NP_109587
859	3182930	Disease	p.Pro105Leu	601253.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C||RIPPLING MUSCLE DISEASE 2	OMIM	144	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Pro105Leu	601253.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C||RIPPLING MUSCLE DISEASE 2	OMIM	144	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Gly56Ser	601253.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, AUTOSOMAL RECESSIVE	OMIM	95	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Gly56Ser	601253.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, AUTOSOMAL RECESSIVE	OMIM	95	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Cys72Trp	601253.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C	OMIM	111	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Cys72Trp	601253.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C	OMIM	111	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Ala46Thr	601253.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C||RIPPLING MUSCLE DISEASE 2||CREATINE PHOSPHOKINASE, ELEVATED SERUM	OMIM	84	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Ala46Thr	601253.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C||RIPPLING MUSCLE DISEASE 2||CREATINE PHOSPHOKINASE, ELEVATED SERUM	OMIM	84	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Ala46Val	601253.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	RIPPLING MUSCLE DISEASE 2	OMIM	84	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Ala46Val	601253.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	RIPPLING MUSCLE DISEASE 2	OMIM	84	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Arg27Gln	601253.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	RIPPLING MUSCLE DISEASE 2||CREATINE PHOSPHOKINASE, ELEVATED SERUM||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C||MYOPATHY, DISTAL, WITH DECREASED CAVEOLIN 3	OMIM	64	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Arg27Gln	601253.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	RIPPLING MUSCLE DISEASE 2||CREATINE PHOSPHOKINASE, ELEVATED SERUM||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C||MYOPATHY, DISTAL, WITH DECREASED CAVEOLIN 3	OMIM	64	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Asp28Glu	601253.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	RIPPLING MUSCLE DISEASE 2||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C	OMIM	65	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Asp28Glu	601253.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	RIPPLING MUSCLE DISEASE 2||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C	OMIM	65	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Leu87Pro	601253.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	RIPPLING MUSCLE DISEASE 2	OMIM	126	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Leu87Pro	601253.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	RIPPLING MUSCLE DISEASE 2	OMIM	126	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Ala93Thr	601253.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE	OMIM	132	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Ala93Thr	601253.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE	OMIM	132	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Pro29Leu	601253.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	CREATINE PHOSPHOKINASE, ELEVATED SERUM	OMIM	66	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Pro29Leu	601253.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	CREATINE PHOSPHOKINASE, ELEVATED SERUM	OMIM	66	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Thr64Ser	601253.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	OMIM	103	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Thr64Ser	601253.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	OMIM	103	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Asn33Lys	601253.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	MYOPATHY, DISTAL, WITH DECREASED CAVEOLIN 3	OMIM	70	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Asn33Lys	601253.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	MYOPATHY, DISTAL, WITH DECREASED CAVEOLIN 3	OMIM	70	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Glu47Lys	601253.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	RIPPLING MUSCLE DISEASE 2	OMIM	85	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Glu47Lys	601253.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	RIPPLING MUSCLE DISEASE 2	OMIM	85	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Ser141Arg	601253.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	LONG QT SYNDROME 9	OMIM	180	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Ser141Arg	601253.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	LONG QT SYNDROME 9	OMIM	180	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Phe97Cys	601253.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO	OMIM	136	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Phe97Cys	601253.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO	OMIM	136	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Thr78Met	601253.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	LONG QT SYNDROME 9||LONG QT SYNDROME 2/9, DIGENIC	OMIM	117	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Thr78Met	601253.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	LONG QT SYNDROME 9||LONG QT SYNDROME 2/9, DIGENIC	OMIM	117	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Ala85Thr	601253.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	LONG QT SYNDROME 9	OMIM	124	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Ala85Thr	601253.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	LONG QT SYNDROME 9	OMIM	124	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Val14Leu	601253.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	LONG QT SYNDROME 9	OMIM	41	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Val14Leu	601253.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	LONG QT SYNDROME 9	OMIM	41	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Leu79Arg	601253.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	LONG QT SYNDROME 9	OMIM	118	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Leu79Arg	601253.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601253	LONG QT SYNDROME 9	OMIM	118	pfam01146	15451860,NP_203123|4502589,NP_001225
274	21536417	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	4	cd07590	NULL
274	21536417	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	4	cd07591	NULL
274	21536417	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	23	smart00721	NULL
274	21536417	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	22	pfam03114	NULL
274	21536417	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07612	NULL
274	21536417	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07588	NULL
274	21536417	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07611	NULL
274	21536409	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	4	cd07590	NULL
274	21536409	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	4	cd07591	NULL
274	21536409	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	23	smart00721	NULL
274	21536409	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	22	pfam03114	NULL
274	21536409	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07612	NULL
274	21536409	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07588	NULL
274	21536409	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07611	NULL
274	21536404	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	4	cd07591	NULL
274	21536404	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	4	cd07590	NULL
274	21536404	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	23	smart00721	NULL
274	21536404	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	22	pfam03114	NULL
274	21536404	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07612	NULL
274	21536404	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07611	NULL
274	21536404	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07588	NULL
274	21536415	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	4	cd07590	NULL
274	21536415	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	4	cd07591	NULL
274	21536415	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	23	smart00721	NULL
274	21536415	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	22	pfam03114	NULL
274	21536415	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07612	NULL
274	21536415	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07588	NULL
274	21536415	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07611	NULL
274	14916535	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	4	cd07591	21536400,NP_647593
274	14916535	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	4	cd07590	21536400,NP_647593
274	14916535	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	23	smart00721	21536400,NP_647593
274	14916535	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	22	pfam03114	21536400,NP_647593
274	14916535	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07612	21536400,NP_647593
274	14916535	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07611	21536400,NP_647593
274	14916535	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07588	21536400,NP_647593
274	21536411	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	4	cd07590	NULL
274	21536411	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	4	cd07591	NULL
274	21536411	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	23	smart00721	NULL
274	21536411	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	22	pfam03114	NULL
274	21536411	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07612	NULL
274	21536411	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07588	NULL
274	21536411	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07611	NULL
274	21536413	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	4	cd07590	NULL
274	21536413	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	4	cd07591	NULL
274	21536413	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	23	smart00721	NULL
274	21536413	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	22	pfam03114	NULL
274	21536413	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07612	NULL
274	21536413	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07588	NULL
274	21536413	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07611	NULL
274	4757748	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	4	cd07590	NULL
274	4757748	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	4	cd07591	NULL
274	4757748	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	23	smart00721	NULL
274	4757748	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	22	pfam03114	NULL
274	4757748	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07612	NULL
274	4757748	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07588	NULL
274	4757748	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07611	NULL
274	21536402	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	4	cd07591	NULL
274	21536402	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	4	cd07590	NULL
274	21536402	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	22	pfam03114	NULL
274	21536402	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	23	smart00721	NULL
274	21536402	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07612	NULL
274	21536402	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07611	NULL
274	21536402	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07588	NULL
274	21536407	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	4	cd07590	NULL
274	21536407	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	4	cd07591	NULL
274	21536407	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	23	smart00721	NULL
274	21536407	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	22	pfam03114	NULL
274	21536407	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07612	NULL
274	21536407	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07588	NULL
274	21536407	Disease	p.Lys35Asn	601248.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	5	cd07611	NULL
274	21536417	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	156	cd07307	NULL
274	21536417	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	126	cd07590	NULL
274	21536417	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	174	cd07591	NULL
274	21536417	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	184	smart00721	NULL
274	21536417	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	195	cd07599	NULL
274	21536417	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	189	cd07589	NULL
274	21536417	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	186	pfam03114	NULL
274	21536417	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	148	cd07612	NULL
274	21536417	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	121	cd07588	NULL
274	21536417	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	121	cd07611	NULL
274	21536409	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	156	cd07307	NULL
274	21536409	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	126	cd07590	NULL
274	21536409	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	174	cd07591	NULL
274	21536409	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	184	smart00721	NULL
274	21536409	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	195	cd07599	NULL
274	21536409	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	189	cd07589	NULL
274	21536409	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	186	pfam03114	NULL
274	21536409	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	148	cd07612	NULL
274	21536409	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	121	cd07588	NULL
274	21536409	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	121	cd07611	NULL
274	21536404	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	156	cd07307	NULL
274	21536404	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	174	cd07591	NULL
274	21536404	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	125_G	cd07590	NULL
274	21536404	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	184	smart00721	NULL
274	21536404	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	186	pfam03114	NULL
274	21536404	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	148	cd07612	NULL
274	21536404	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	121	cd07611	NULL
274	21536404	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	121	cd07588	NULL
274	21536415	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	156	cd07307	NULL
274	21536415	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	126	cd07590	NULL
274	21536415	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	174	cd07591	NULL
274	21536415	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	184	smart00721	NULL
274	21536415	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	195	cd07599	NULL
274	21536415	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	189	cd07589	NULL
274	21536415	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	186	pfam03114	NULL
274	21536415	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	148	cd07612	NULL
274	21536415	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	121	cd07588	NULL
274	21536415	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	121	cd07611	NULL
274	14916535	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	156	cd07307	21536400,NP_647593
274	14916535	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	174	cd07591	21536400,NP_647593
274	14916535	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	125_G	cd07590	21536400,NP_647593
274	14916535	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	184	smart00721	21536400,NP_647593
274	14916535	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	186	pfam03114	21536400,NP_647593
274	14916535	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	148	cd07612	21536400,NP_647593
274	14916535	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	121	cd07611	21536400,NP_647593
274	14916535	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	121	cd07588	21536400,NP_647593
274	21536411	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	156	cd07307	NULL
274	21536411	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	126	cd07590	NULL
274	21536411	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	174	cd07591	NULL
274	21536411	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	184	smart00721	NULL
274	21536411	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	195	cd07599	NULL
274	21536411	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	189	cd07589	NULL
274	21536411	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	186	pfam03114	NULL
274	21536411	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	148	cd07612	NULL
274	21536411	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	121	cd07588	NULL
274	21536411	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	121	cd07611	NULL
274	21536413	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	156	cd07307	NULL
274	21536413	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	126	cd07590	NULL
274	21536413	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	174	cd07591	NULL
274	21536413	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	184	smart00721	NULL
274	21536413	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	195	cd07599	NULL
274	21536413	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	189	cd07589	NULL
274	21536413	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	186	pfam03114	NULL
274	21536413	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	148	cd07612	NULL
274	21536413	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	121	cd07588	NULL
274	21536413	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	121	cd07611	NULL
274	4757748	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	156	cd07307	NULL
274	4757748	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	126	cd07590	NULL
274	4757748	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	174	cd07591	NULL
274	4757748	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	184	smart00721	NULL
274	4757748	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	195	cd07599	NULL
274	4757748	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	189	cd07589	NULL
274	4757748	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	186	pfam03114	NULL
274	4757748	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	148	cd07612	NULL
274	4757748	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	121	cd07588	NULL
274	4757748	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	121	cd07611	NULL
274	21536402	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	156	cd07307	NULL
274	21536402	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	174	cd07591	NULL
274	21536402	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	125_G	cd07590	NULL
274	21536402	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	186	pfam03114	NULL
274	21536402	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	184	smart00721	NULL
274	21536402	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	148	cd07612	NULL
274	21536402	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	121	cd07611	NULL
274	21536402	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	121	cd07588	NULL
274	21536407	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	156	cd07307	NULL
274	21536407	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	126	cd07590	NULL
274	21536407	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	174	cd07591	NULL
274	21536407	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	184	smart00721	NULL
274	21536407	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	195	cd07599	NULL
274	21536407	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	189	cd07589	NULL
274	21536407	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	186	pfam03114	NULL
274	21536407	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	148	cd07612	NULL
274	21536407	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	121	cd07588	NULL
274	21536407	Disease	p.Asp151Asn	601248.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	121	cd07611	NULL
274	21536417	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	159	cd07307	NULL
274	21536417	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	129	cd07590	NULL
274	21536417	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	177	cd07591	NULL
274	21536417	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	187	smart00721	NULL
274	21536417	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	198	cd07599	NULL
274	21536417	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	192	cd07589	NULL
274	21536417	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	189	pfam03114	NULL
274	21536417	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	151	cd07612	NULL
274	21536417	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	124	cd07588	NULL
274	21536417	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	124	cd07611	NULL
274	21536409	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	159	cd07307	NULL
274	21536409	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	129	cd07590	NULL
274	21536409	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	177	cd07591	NULL
274	21536409	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	187	smart00721	NULL
274	21536409	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	198	cd07599	NULL
274	21536409	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	192	cd07589	NULL
274	21536409	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	189	pfam03114	NULL
274	21536409	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	151	cd07612	NULL
274	21536409	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	124	cd07588	NULL
274	21536409	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	124	cd07611	NULL
274	21536404	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	159	cd07307	NULL
274	21536404	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	177	cd07591	NULL
274	21536404	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	125_G	cd07590	NULL
274	21536404	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	187	smart00721	NULL
274	21536404	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	189	pfam03114	NULL
274	21536404	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	151	cd07612	NULL
274	21536404	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	124	cd07611	NULL
274	21536404	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	124	cd07588	NULL
274	21536415	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	159	cd07307	NULL
274	21536415	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	129	cd07590	NULL
274	21536415	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	177	cd07591	NULL
274	21536415	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	187	smart00721	NULL
274	21536415	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	198	cd07599	NULL
274	21536415	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	192	cd07589	NULL
274	21536415	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	189	pfam03114	NULL
274	21536415	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	151	cd07612	NULL
274	21536415	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	124	cd07588	NULL
274	21536415	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	124	cd07611	NULL
274	14916535	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	159	cd07307	21536400,NP_647593
274	14916535	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	177	cd07591	21536400,NP_647593
274	14916535	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	125_G	cd07590	21536400,NP_647593
274	14916535	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	187	smart00721	21536400,NP_647593
274	14916535	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	189	pfam03114	21536400,NP_647593
274	14916535	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	151	cd07612	21536400,NP_647593
274	14916535	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	124	cd07611	21536400,NP_647593
274	14916535	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	124	cd07588	21536400,NP_647593
274	21536411	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	159	cd07307	NULL
274	21536411	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	129	cd07590	NULL
274	21536411	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	177	cd07591	NULL
274	21536411	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	187	smart00721	NULL
274	21536411	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	198	cd07599	NULL
274	21536411	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	192	cd07589	NULL
274	21536411	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	189	pfam03114	NULL
274	21536411	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	151	cd07612	NULL
274	21536411	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	124	cd07588	NULL
274	21536411	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	124	cd07611	NULL
274	21536413	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	159	cd07307	NULL
274	21536413	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	129	cd07590	NULL
274	21536413	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	177	cd07591	NULL
274	21536413	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	187	smart00721	NULL
274	21536413	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	198	cd07599	NULL
274	21536413	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	192	cd07589	NULL
274	21536413	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	189	pfam03114	NULL
274	21536413	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	151	cd07612	NULL
274	21536413	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	124	cd07588	NULL
274	21536413	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	124	cd07611	NULL
274	4757748	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	159	cd07307	NULL
274	4757748	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	129	cd07590	NULL
274	4757748	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	177	cd07591	NULL
274	4757748	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	187	smart00721	NULL
274	4757748	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	198	cd07599	NULL
274	4757748	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	192	cd07589	NULL
274	4757748	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	189	pfam03114	NULL
274	4757748	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	151	cd07612	NULL
274	4757748	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	124	cd07588	NULL
274	4757748	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	124	cd07611	NULL
274	21536402	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	159	cd07307	NULL
274	21536402	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	177	cd07591	NULL
274	21536402	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	125_G	cd07590	NULL
274	21536402	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	189	pfam03114	NULL
274	21536402	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	187	smart00721	NULL
274	21536402	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	151	cd07612	NULL
274	21536402	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	124	cd07611	NULL
274	21536402	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	124	cd07588	NULL
274	21536407	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	159	cd07307	NULL
274	21536407	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	129	cd07590	NULL
274	21536407	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	177	cd07591	NULL
274	21536407	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	187	smart00721	NULL
274	21536407	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	198	cd07599	NULL
274	21536407	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	192	cd07589	NULL
274	21536407	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	189	pfam03114	NULL
274	21536407	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	151	cd07612	NULL
274	21536407	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	124	cd07588	NULL
274	21536407	Disease	p.Arg154Gln	601248.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601248	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE	OMIM	124	cd07611	NULL
2593	20336212	Disease	p.Trp20Ser	601240.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601240	GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY	OMIM	No Domain	N/A	NULL
2593	2498404	Disease	p.Trp20Ser	601240.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601240	GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY	OMIM	No Domain	N/A	4503909,NP_000147
2593	20336212	Disease	p.Cys169Tyr	601240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601240	GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY	OMIM	349	cd02440	NULL
2593	2498404	Disease	p.Cys169Tyr	601240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601240	GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY	OMIM	349	cd02440	4503909,NP_000147
2593	20336212	Disease	p.Met50Leu	601240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601240	GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY	OMIM	No Domain	N/A	NULL
2593	2498404	Disease	p.Met50Leu	601240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601240	GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY	OMIM	No Domain	N/A	4503909,NP_000147
1837	189571587	Disease	p.Pro121Leu	601239.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601239	LEFT VENTRICULAR NONCOMPACTION 1	OMIM	321	pfam09068	NULL
1837	42718001	Disease	p.Pro121Leu	601239.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601239	LEFT VENTRICULAR NONCOMPACTION 1	OMIM	321	pfam09068	NULL
1837	14916515	Disease	p.Pro121Leu	601239.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601239	LEFT VENTRICULAR NONCOMPACTION 1	OMIM	No Domain	N/A	NULL
1837	229462840	Disease	p.Pro121Leu	601239.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601239	LEFT VENTRICULAR NONCOMPACTION 1	OMIM	321	pfam09068	42718005,NP_001381
1837	42717994	Disease	p.Pro121Leu	601239.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601239	LEFT VENTRICULAR NONCOMPACTION 1	OMIM	321	pfam09068	NULL
1837	42717997	Disease	p.Pro121Leu	601239.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601239	LEFT VENTRICULAR NONCOMPACTION 1	OMIM	321	pfam09068	NULL
1837	42717999	Disease	p.Pro121Leu	601239.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601239	LEFT VENTRICULAR NONCOMPACTION 1	OMIM	321	pfam09068	NULL
1837	42718003	Disease	p.Pro121Leu	601239.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601239	LEFT VENTRICULAR NONCOMPACTION 1	OMIM	321	pfam09068	NULL
1837	42718007	Disease	p.Pro121Leu	601239.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601239	LEFT VENTRICULAR NONCOMPACTION 1	OMIM	No Domain	N/A	NULL
6495	2495290	Disease	p.Tyr129Cys	601205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601205	BRANCHIOOTIC SYNDROME 3	OMIM	5	cd00086	5174681,NP_005973
6495	2495290	Disease	p.Tyr129Cys	601205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601205	BRANCHIOOTIC SYNDROME 3	OMIM	4	smart00389	5174681,NP_005973
6495	2495290	Disease	p.Tyr129Cys	601205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601205	BRANCHIOOTIC SYNDROME 3	OMIM	4	pfam00046	5174681,NP_005973
6495	2495290	Disease	p.Arg110Trp	601205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601205	BRANCHIOOTIC SYNDROME 3	OMIM	No Domain	N/A	5174681,NP_005973
6495	2495290	Disease	p.Trp122Arg	601205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601205	BRANCHIOOTIC SYNDROME 3	OMIM	No Domain	N/A	5174681,NP_005973
846	1168781	Disease	p.Arg796Trp	601199.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	398	pfam00003	37577159,NP_000379
846	296010811	Disease	p.Arg796Trp	601199.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	359	pfam00003	NULL
846	1168781	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	277	cd06361	37577159,NP_000379
846	1168781	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	682	cd06269	37577159,NP_000379
846	1168781	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	365	cd04509	37577159,NP_000379
846	1168781	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	387	cd06350	37577159,NP_000379
846	1168781	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	383	cd01391	37577159,NP_000379
846	1168781	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	287	cd06379	37577159,NP_000379
846	1168781	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	290	cd06374	37577159,NP_000379
846	1168781	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	267	cd06370	37577159,NP_000379
846	1168781	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	379_G	cd06352	37577159,NP_000379
846	1168781	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	279	cd06364	37577159,NP_000379
846	1168781	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	435	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	331	cd06362	37577159,NP_000379
846	1168781	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	275	cd06376	37577159,NP_000379
846	1168781	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	278	cd06365	37577159,NP_000379
846	1168781	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	277	cd06375	37577159,NP_000379
846	1168781	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	303	cd06363	37577159,NP_000379
846	1168781	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	302	cd06366	37577159,NP_000379
846	1168781	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	386	cd06268	37577159,NP_000379
846	296010811	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	277	cd06361	NULL
846	296010811	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	682	cd06269	NULL
846	296010811	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	365	cd04509	NULL
846	296010811	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	387	cd06350	NULL
846	296010811	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	383	cd01391	NULL
846	296010811	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	287	cd06379	NULL
846	296010811	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	290	cd06374	NULL
846	296010811	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	267	cd06370	NULL
846	296010811	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	379_G	cd06352	NULL
846	296010811	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	279	cd06364	NULL
846	296010811	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	435	pfam01094	NULL
846	296010811	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	331	cd06362	NULL
846	296010811	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	275	cd06376	NULL
846	296010811	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	278	cd06365	NULL
846	296010811	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	277	cd06375	NULL
846	296010811	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	303	cd06363	NULL
846	296010811	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	302	cd06366	NULL
846	296010811	Disease	p.Glu298Lys	601199.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	386	cd06268	NULL
846	1168781	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	157	cd06361	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	373	cd06269	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	194	cd04509	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	221	cd06350	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	194	cd01391	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	153	cd06379	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	168	cd06374	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	126	cd06370	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	211	cd06352	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	166	cd06364	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	229	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	183	cd06362	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	156	cd06376	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	160	cd06365	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	161	cd06375	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	182	cd06363	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	163	cd06366	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	213	cd06268	37577159,NP_000379
846	296010811	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	157	cd06361	NULL
846	296010811	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	373	cd06269	NULL
846	296010811	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	194	cd04509	NULL
846	296010811	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	221	cd06350	NULL
846	296010811	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	194	cd01391	NULL
846	296010811	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	153	cd06379	NULL
846	296010811	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	168	cd06374	NULL
846	296010811	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	126	cd06370	NULL
846	296010811	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	211	cd06352	NULL
846	296010811	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	166	cd06364	NULL
846	296010811	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	229	pfam01094	NULL
846	296010811	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	183	cd06362	NULL
846	296010811	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	156	cd06376	NULL
846	296010811	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	160	cd06365	NULL
846	296010811	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	161	cd06375	NULL
846	296010811	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	182	cd06363	NULL
846	296010811	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	163	cd06366	NULL
846	296010811	Disease	p.Arg185Gln	601199.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL||HYPERPARATHYROIDISM, NEONATAL SEVERE	OMIM	213	cd06268	NULL
846	1168781	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	99	cd06361	37577159,NP_000379
846	1168781	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	206	cd06269	37577159,NP_000379
846	1168781	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	122	cd04509	37577159,NP_000379
846	1168781	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	154	cd06350	37577159,NP_000379
846	1168781	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	122	cd01391	37577159,NP_000379
846	1168781	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	88	cd06379	37577159,NP_000379
846	1168781	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	111	cd06374	37577159,NP_000379
846	1168781	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	70_G	cd06370	37577159,NP_000379
846	1168781	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	121_G	cd06352	37577159,NP_000379
846	1168781	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	109	cd06364	37577159,NP_000379
846	1168781	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	103	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	96	cd06362	37577159,NP_000379
846	1168781	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	90	cd06376	37577159,NP_000379
846	1168781	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	96	cd06365	37577159,NP_000379
846	1168781	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	103	cd06375	37577159,NP_000379
846	1168781	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	125	cd06363	37577159,NP_000379
846	1168781	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	106_G	cd06366	37577159,NP_000379
846	1168781	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	145	cd06268	37577159,NP_000379
846	296010811	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	99	cd06361	NULL
846	296010811	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	206	cd06269	NULL
846	296010811	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	122	cd04509	NULL
846	296010811	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	154	cd06350	NULL
846	296010811	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	122	cd01391	NULL
846	296010811	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	88	cd06379	NULL
846	296010811	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	111	cd06374	NULL
846	296010811	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	70_G	cd06370	NULL
846	296010811	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	121_G	cd06352	NULL
846	296010811	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	109	cd06364	NULL
846	296010811	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	103	pfam01094	NULL
846	296010811	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	96	cd06362	NULL
846	296010811	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	90	cd06376	NULL
846	296010811	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	96	cd06365	NULL
846	296010811	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	103	cd06375	NULL
846	296010811	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	125	cd06363	NULL
846	296010811	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	106_G	cd06366	NULL
846	296010811	Disease	p.Glu128Ala	601199.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	145	cd06268	NULL
846	1168781	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	199	cd06361	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	484	cd06269	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	251	cd04509	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	275	cd06350	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	260	cd01391	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	195	cd06379	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	210	cd06374	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	170	cd06370	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	285	cd06352	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	208	cd06364	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	328	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	241	cd06362	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	198	cd06376	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	202	cd06365	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	203	cd06375	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	224	cd06363	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	207	cd06366	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	268	cd06268	37577159,NP_000379
846	296010811	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	199	cd06361	NULL
846	296010811	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	484	cd06269	NULL
846	296010811	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	251	cd04509	NULL
846	296010811	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	275	cd06350	NULL
846	296010811	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	260	cd01391	NULL
846	296010811	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	195	cd06379	NULL
846	296010811	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	210	cd06374	NULL
846	296010811	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	170	cd06370	NULL
846	296010811	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	285	cd06352	NULL
846	296010811	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	208	cd06364	NULL
846	296010811	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	328	pfam01094	NULL
846	296010811	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	241	cd06362	NULL
846	296010811	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	198	cd06376	NULL
846	296010811	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	202	cd06365	NULL
846	296010811	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	203	cd06375	NULL
846	296010811	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	224	cd06363	NULL
846	296010811	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	207	cd06366	NULL
846	296010811	Disease	p.Arg227Leu	601199.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	268	cd06268	NULL
846	1168781	Disease	p.Cys582Tyr	601199.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	50	pfam07562	37577159,NP_000379
846	296010811	Disease	p.Cys582Tyr	601199.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	38	pfam07562	NULL
846	1168781	Disease	p.Glu681His	601199.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	100	pfam00003	37577159,NP_000379
846	296010811	Disease	p.Glu681His	601199.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	65	pfam00003	NULL
846	1168781	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	88	cd06361	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	181	cd06269	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	100	cd04509	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	129	cd06350	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	100	cd01391	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	71	cd06379	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	93	cd06374	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	70_G	cd06370	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	113	cd06352	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	97	cd06364	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	61	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	84_G	cd06362	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	77_G	cd06376	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	89_G	cd06365	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	89	cd06375	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	115	cd06363	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	78	cd06366	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	118	cd06268	37577159,NP_000379
846	296010811	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	88	cd06361	NULL
846	296010811	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	181	cd06269	NULL
846	296010811	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	100	cd04509	NULL
846	296010811	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	129	cd06350	NULL
846	296010811	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	100	cd01391	NULL
846	296010811	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	71	cd06379	NULL
846	296010811	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	93	cd06374	NULL
846	296010811	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	70_G	cd06370	NULL
846	296010811	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	113	cd06352	NULL
846	296010811	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	97	cd06364	NULL
846	296010811	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	61	pfam01094	NULL
846	296010811	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	84_G	cd06362	NULL
846	296010811	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	77_G	cd06376	NULL
846	296010811	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	89_G	cd06365	NULL
846	296010811	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	89	cd06375	NULL
846	296010811	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	115	cd06363	NULL
846	296010811	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	78	cd06366	NULL
846	296010811	Disease	p.Ala116Thr	601199.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	118	cd06268	NULL
846	1168781	Disease	p.Phe806Ser	601199.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	411	pfam00003	37577159,NP_000379
846	296010811	Disease	p.Phe806Ser	601199.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	398	pfam00003	NULL
846	1168781	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	123	cd06361	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	229	cd06269	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	145	cd04509	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	180	cd06350	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	145	cd01391	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	119	cd06379	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	134	cd06374	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	90	cd06370	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	148	cd06352	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	132	cd06364	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	156	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	149	cd06362	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	122	cd06376	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	126	cd06365	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	127	cd06375	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	148	cd06363	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	124	cd06366	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	164	cd06268	37577159,NP_000379
846	296010811	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	123	cd06361	NULL
846	296010811	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	229	cd06269	NULL
846	296010811	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	145	cd04509	NULL
846	296010811	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	180	cd06350	NULL
846	296010811	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	145	cd01391	NULL
846	296010811	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	119	cd06379	NULL
846	296010811	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	134	cd06374	NULL
846	296010811	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	90	cd06370	NULL
846	296010811	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	148	cd06352	NULL
846	296010811	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	132	cd06364	NULL
846	296010811	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	156	pfam01094	NULL
846	296010811	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	149	cd06362	NULL
846	296010811	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	122	cd06376	NULL
846	296010811	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	126	cd06365	NULL
846	296010811	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	127	cd06375	NULL
846	296010811	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	148	cd06363	NULL
846	296010811	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	124	cd06366	NULL
846	296010811	Disease	p.Thr151Met	601199.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	164	cd06268	NULL
846	1168781	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	90	cd06361	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	183	cd06269	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	102	cd04509	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	131	cd06350	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	102	cd01391	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	82	cd06379	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	95	cd06374	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	70_G	cd06370	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	118	cd06352	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	99	cd06364	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	63	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	86	cd06362	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	79	cd06376	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	89_G	cd06365	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	91	cd06375	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	117	cd06363	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	80	cd06366	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	120	cd06268	37577159,NP_000379
846	296010811	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	90	cd06361	NULL
846	296010811	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	183	cd06269	NULL
846	296010811	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	102	cd04509	NULL
846	296010811	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	131	cd06350	NULL
846	296010811	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	102	cd01391	NULL
846	296010811	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	82	cd06379	NULL
846	296010811	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	95	cd06374	NULL
846	296010811	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	70_G	cd06370	NULL
846	296010811	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	118	cd06352	NULL
846	296010811	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	99	cd06364	NULL
846	296010811	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	63	pfam01094	NULL
846	296010811	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	86	cd06362	NULL
846	296010811	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	79	cd06376	NULL
846	296010811	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	89_G	cd06365	NULL
846	296010811	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	91	cd06375	NULL
846	296010811	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	117	cd06363	NULL
846	296010811	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	80	cd06366	NULL
846	296010811	Disease	p.Asn118Lys	601199.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED||HYPOPARATHYROIDISM, SPORADIC	OMIM	120	cd06268	NULL
846	1168781	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	99	cd06361	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	206	cd06269	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	122	cd04509	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	154	cd06350	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	122	cd01391	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	88	cd06379	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	111	cd06374	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	70_G	cd06370	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	121_G	cd06352	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	109	cd06364	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	103	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	96	cd06362	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	90	cd06376	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	96	cd06365	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	103	cd06375	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	125	cd06363	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	106_G	cd06366	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	145	cd06268	37577159,NP_000379
846	296010811	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	99	cd06361	NULL
846	296010811	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	206	cd06269	NULL
846	296010811	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	122	cd04509	NULL
846	296010811	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	154	cd06350	NULL
846	296010811	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	122	cd01391	NULL
846	296010811	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	88	cd06379	NULL
846	296010811	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	111	cd06374	NULL
846	296010811	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	70_G	cd06370	NULL
846	296010811	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	121_G	cd06352	NULL
846	296010811	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	109	cd06364	NULL
846	296010811	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	103	pfam01094	NULL
846	296010811	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	96	cd06362	NULL
846	296010811	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	90	cd06376	NULL
846	296010811	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	96	cd06365	NULL
846	296010811	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	103	cd06375	NULL
846	296010811	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	125	cd06363	NULL
846	296010811	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	106_G	cd06366	NULL
846	296010811	Disease	p.Phe128Leu	601199.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	145	cd06268	NULL
79742	193804856	Disease	p.Phe128Leu	601199.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Phe128Leu	601199.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
846	1168781	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	163	cd06361	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	379	cd06269	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	200	cd04509	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	227	cd06350	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	200	cd01391	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	159	cd06379	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	174	cd06374	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	132	cd06370	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	217	cd06352	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	172	cd06364	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	262	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	189	cd06362	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	162	cd06376	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	166	cd06365	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	167	cd06375	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	188	cd06363	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	169	cd06366	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	219	cd06268	37577159,NP_000379
846	296010811	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	163	cd06361	NULL
846	296010811	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	379	cd06269	NULL
846	296010811	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	200	cd04509	NULL
846	296010811	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	227	cd06350	NULL
846	296010811	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	200	cd01391	NULL
846	296010811	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	159	cd06379	NULL
846	296010811	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	174	cd06374	NULL
846	296010811	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	132	cd06370	NULL
846	296010811	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	217	cd06352	NULL
846	296010811	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	172	cd06364	NULL
846	296010811	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	262	pfam01094	NULL
846	296010811	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	189	cd06362	NULL
846	296010811	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	162	cd06376	NULL
846	296010811	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	166	cd06365	NULL
846	296010811	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	167	cd06375	NULL
846	296010811	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	188	cd06363	NULL
846	296010811	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	169	cd06366	NULL
846	296010811	Disease	p.Glu191Lys	601199.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	219	cd06268	NULL
846	1168781	Disease	p.Phe612Ser	601199.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	No Domain	N/A	37577159,NP_000379
846	296010811	Disease	p.Phe612Ser	601199.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	No Domain	N/A	NULL
846	1168781	Disease	p.Leu773Arg	601199.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, SPORADIC	OMIM	327	pfam00003	37577159,NP_000379
846	296010811	Disease	p.Leu773Arg	601199.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, SPORADIC	OMIM	294	pfam00003	NULL
846	1168781	Disease	p.Gly670Glu	601199.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	64	pfam00003	37577159,NP_000379
846	296010811	Disease	p.Gly670Glu	601199.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	OMIM	53	pfam00003	NULL
846	1168781	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	8	cd06361	37577159,NP_000379
846	1168781	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	8	cd06269	37577159,NP_000379
846	1168781	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	8	cd04509	37577159,NP_000379
846	1168781	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	8	cd06350	37577159,NP_000379
846	1168781	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	8	cd01391	37577159,NP_000379
846	1168781	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	18	cd06374	37577159,NP_000379
846	1168781	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	21	cd06364	37577159,NP_000379
846	1168781	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	11	cd06362	37577159,NP_000379
846	1168781	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	11	cd06376	37577159,NP_000379
846	1168781	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	11	cd06365	37577159,NP_000379
846	1168781	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	11	cd06375	37577159,NP_000379
846	1168781	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	15	cd06363	37577159,NP_000379
846	296010811	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	8	cd06361	NULL
846	296010811	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	8	cd06269	NULL
846	296010811	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	8	cd04509	NULL
846	296010811	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	8	cd06350	NULL
846	296010811	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	8	cd01391	NULL
846	296010811	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	18	cd06374	NULL
846	296010811	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	21	cd06364	NULL
846	296010811	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	11	cd06362	NULL
846	296010811	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	11	cd06376	NULL
846	296010811	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	11	cd06365	NULL
846	296010811	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	11	cd06375	NULL
846	296010811	Disease	p.Pro40Ala	601199.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	15	cd06363	NULL
846	1168781	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	200	cd06361	37577159,NP_000379
846	1168781	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	485	cd06269	37577159,NP_000379
846	1168781	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	252	cd04509	37577159,NP_000379
846	1168781	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	276	cd06350	37577159,NP_000379
846	1168781	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	261	cd01391	37577159,NP_000379
846	1168781	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	196	cd06379	37577159,NP_000379
846	1168781	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	211	cd06374	37577159,NP_000379
846	1168781	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	171	cd06370	37577159,NP_000379
846	1168781	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	286	cd06352	37577159,NP_000379
846	1168781	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	209	cd06364	37577159,NP_000379
846	1168781	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	329	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	242	cd06362	37577159,NP_000379
846	1168781	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	199	cd06376	37577159,NP_000379
846	1168781	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	203	cd06365	37577159,NP_000379
846	1168781	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	204	cd06375	37577159,NP_000379
846	1168781	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	225	cd06363	37577159,NP_000379
846	1168781	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	208	cd06366	37577159,NP_000379
846	1168781	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	269	cd06268	37577159,NP_000379
846	296010811	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	200	cd06361	NULL
846	296010811	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	485	cd06269	NULL
846	296010811	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	252	cd04509	NULL
846	296010811	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	276	cd06350	NULL
846	296010811	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	261	cd01391	NULL
846	296010811	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	196	cd06379	NULL
846	296010811	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	211	cd06374	NULL
846	296010811	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	171	cd06370	NULL
846	296010811	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	286	cd06352	NULL
846	296010811	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	209	cd06364	NULL
846	296010811	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	329	pfam01094	NULL
846	296010811	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	242	cd06362	NULL
846	296010811	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	199	cd06376	NULL
846	296010811	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	203	cd06365	NULL
846	296010811	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	204	cd06375	NULL
846	296010811	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	225	cd06363	NULL
846	296010811	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	208	cd06366	NULL
846	296010811	Disease	p.Arg228Gln	601199.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	269	cd06268	NULL
846	1168781	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	111	cd06361	37577159,NP_000379
846	1168781	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	217	cd06269	37577159,NP_000379
846	1168781	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	133	cd04509	37577159,NP_000379
846	1168781	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	165	cd06350	37577159,NP_000379
846	1168781	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	133	cd01391	37577159,NP_000379
846	1168781	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	99	cd06379	37577159,NP_000379
846	1168781	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	122	cd06374	37577159,NP_000379
846	1168781	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	78	cd06370	37577159,NP_000379
846	1168781	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	121_G	cd06352	37577159,NP_000379
846	1168781	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	120	cd06364	37577159,NP_000379
846	1168781	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	126	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	137	cd06362	37577159,NP_000379
846	1168781	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	102	cd06376	37577159,NP_000379
846	1168781	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	111	cd06365	37577159,NP_000379
846	1168781	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	114	cd06375	37577159,NP_000379
846	1168781	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	136	cd06363	37577159,NP_000379
846	1168781	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	112	cd06366	37577159,NP_000379
846	1168781	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	152	cd06268	37577159,NP_000379
846	296010811	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	111	cd06361	NULL
846	296010811	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	217	cd06269	NULL
846	296010811	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	133	cd04509	NULL
846	296010811	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	165	cd06350	NULL
846	296010811	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	133	cd01391	NULL
846	296010811	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	99	cd06379	NULL
846	296010811	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	122	cd06374	NULL
846	296010811	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	78	cd06370	NULL
846	296010811	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	121_G	cd06352	NULL
846	296010811	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	120	cd06364	NULL
846	296010811	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	126	pfam01094	NULL
846	296010811	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	137	cd06362	NULL
846	296010811	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	102	cd06376	NULL
846	296010811	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	111	cd06365	NULL
846	296010811	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	114	cd06375	NULL
846	296010811	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	136	cd06363	NULL
846	296010811	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	112	cd06366	NULL
846	296010811	Disease	p.Thr139Met	601199.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	152	cd06268	NULL
846	1168781	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	116	cd06361	37577159,NP_000379
846	1168781	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	222	cd06269	37577159,NP_000379
846	1168781	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	138	cd04509	37577159,NP_000379
846	1168781	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	170	cd06350	37577159,NP_000379
846	1168781	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	138	cd01391	37577159,NP_000379
846	1168781	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	109	cd06379	37577159,NP_000379
846	1168781	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	127	cd06374	37577159,NP_000379
846	1168781	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	83	cd06370	37577159,NP_000379
846	1168781	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	126	cd06352	37577159,NP_000379
846	1168781	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	125	cd06364	37577159,NP_000379
846	1168781	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	133	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	142	cd06362	37577159,NP_000379
846	1168781	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	115	cd06376	37577159,NP_000379
846	1168781	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	116	cd06365	37577159,NP_000379
846	1168781	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	120	cd06375	37577159,NP_000379
846	1168781	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	141	cd06363	37577159,NP_000379
846	1168781	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	117	cd06366	37577159,NP_000379
846	1168781	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	157	cd06268	37577159,NP_000379
846	296010811	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	116	cd06361	NULL
846	296010811	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	222	cd06269	NULL
846	296010811	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	138	cd04509	NULL
846	296010811	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	170	cd06350	NULL
846	296010811	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	138	cd01391	NULL
846	296010811	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	109	cd06379	NULL
846	296010811	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	127	cd06374	NULL
846	296010811	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	83	cd06370	NULL
846	296010811	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	126	cd06352	NULL
846	296010811	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	125	cd06364	NULL
846	296010811	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	133	pfam01094	NULL
846	296010811	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	142	cd06362	NULL
846	296010811	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	115	cd06376	NULL
846	296010811	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	116	cd06365	NULL
846	296010811	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	120	cd06375	NULL
846	296010811	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	141	cd06363	NULL
846	296010811	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	117	cd06366	NULL
846	296010811	Disease	p.Gly144Glu	601199.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	157	cd06268	NULL
846	1168781	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	34	cd06361	37577159,NP_000379
846	1168781	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	70	cd06269	37577159,NP_000379
846	1168781	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	33	cd04509	37577159,NP_000379
846	1168781	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	65	cd06350	37577159,NP_000379
846	1168781	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	33	cd01391	37577159,NP_000379
846	1168781	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	37	cd06374	37577159,NP_000379
846	1168781	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	18	cd06370	37577159,NP_000379
846	1168781	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	27	cd06352	37577159,NP_000379
846	1168781	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	44	cd06364	37577159,NP_000379
846	1168781	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	32	cd06362	37577159,NP_000379
846	1168781	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	26	cd06376	37577159,NP_000379
846	1168781	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	38	cd06365	37577159,NP_000379
846	1168781	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	30	cd06375	37577159,NP_000379
846	1168781	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	57	cd06363	37577159,NP_000379
846	1168781	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	9	cd06366	37577159,NP_000379
846	1168781	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	30	cd06268	37577159,NP_000379
846	296010811	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	34	cd06361	NULL
846	296010811	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	70	cd06269	NULL
846	296010811	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	33	cd04509	NULL
846	296010811	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	65	cd06350	NULL
846	296010811	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	33	cd01391	NULL
846	296010811	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	37	cd06374	NULL
846	296010811	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	18	cd06370	NULL
846	296010811	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	27	cd06352	NULL
846	296010811	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	44	cd06364	NULL
846	296010811	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	32	cd06362	NULL
846	296010811	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	26	cd06376	NULL
846	296010811	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	38	cd06365	NULL
846	296010811	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	30	cd06375	NULL
846	296010811	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	57	cd06363	NULL
846	296010811	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	9	cd06366	NULL
846	296010811	Disease	p.Arg63Met	601199.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	30	cd06268	NULL
846	1168781	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	38	cd06361	37577159,NP_000379
846	1168781	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	74	cd06269	37577159,NP_000379
846	1168781	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	37	cd04509	37577159,NP_000379
846	1168781	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	69	cd06350	37577159,NP_000379
846	1168781	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	37	cd01391	37577159,NP_000379
846	1168781	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	40	cd06374	37577159,NP_000379
846	1168781	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	22	cd06370	37577159,NP_000379
846	1168781	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	31	cd06352	37577159,NP_000379
846	1168781	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	48	cd06364	37577159,NP_000379
846	1168781	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	35	cd06362	37577159,NP_000379
846	1168781	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	29	cd06376	37577159,NP_000379
846	1168781	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	42	cd06365	37577159,NP_000379
846	1168781	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	35	cd06375	37577159,NP_000379
846	1168781	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	63	cd06363	37577159,NP_000379
846	1168781	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	18	cd06366	37577159,NP_000379
846	1168781	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	34	cd06268	37577159,NP_000379
846	296010811	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	38	cd06361	NULL
846	296010811	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	74	cd06269	NULL
846	296010811	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	37	cd04509	NULL
846	296010811	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	69	cd06350	NULL
846	296010811	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	37	cd01391	NULL
846	296010811	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	40	cd06374	NULL
846	296010811	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	22	cd06370	NULL
846	296010811	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	31	cd06352	NULL
846	296010811	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	48	cd06364	NULL
846	296010811	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	35	cd06362	NULL
846	296010811	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	29	cd06376	NULL
846	296010811	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	42	cd06365	NULL
846	296010811	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	35	cd06375	NULL
846	296010811	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	63	cd06363	NULL
846	296010811	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	18	cd06366	NULL
846	296010811	Disease	p.Arg67Cys	601199.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	34	cd06268	NULL
846	1168781	Disease	p.Phe788Cys	601199.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	361	pfam00003	37577159,NP_000379
846	296010811	Disease	p.Phe788Cys	601199.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	351	pfam00003	NULL
846	1168781	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	15	cd06361	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	15	cd06269	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	15	cd04509	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	15	cd06350	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	15	cd01391	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	25	cd06374	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	7	cd06352	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	28	cd06364	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	12_G	cd06362	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	14	cd06376	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	18	cd06365	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	14	cd06375	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	22	cd06363	37577159,NP_000379
846	296010811	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	15	cd06361	NULL
846	296010811	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	15	cd06269	NULL
846	296010811	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	15	cd04509	NULL
846	296010811	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	15	cd06350	NULL
846	296010811	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	15	cd01391	NULL
846	296010811	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	25	cd06374	NULL
846	296010811	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	7	cd06352	NULL
846	296010811	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	28	cd06364	NULL
846	296010811	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	12_G	cd06362	NULL
846	296010811	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	14	cd06376	NULL
846	296010811	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	18	cd06365	NULL
846	296010811	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	14	cd06375	NULL
846	296010811	Disease	p.Lys47Asn	601199.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT	OMIM	22	cd06363	NULL
846	1168781	Disease	p.Leu616Val	601199.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL	OMIM	No Domain	N/A	37577159,NP_000379
846	296010811	Disease	p.Leu616Val	601199.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL	OMIM	No Domain	N/A	NULL
846	1168781	Disease	p.Phe881Leu	601199.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPERCALCEMIA	OMIM	No Domain	N/A	37577159,NP_000379
846	296010811	Disease	p.Phe881Leu	601199.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPERCALCEMIA	OMIM	No Domain	N/A	NULL
846	1168781	Disease	p.Ala843Glu	601199.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME||HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	496	pfam00003	37577159,NP_000379
846	296010811	Disease	p.Ala843Glu	601199.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME||HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	486	pfam00003	NULL
846	1168781	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	113	cd06361	37577159,NP_000379
846	1168781	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	219	cd06269	37577159,NP_000379
846	1168781	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	135	cd04509	37577159,NP_000379
846	1168781	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	167	cd06350	37577159,NP_000379
846	1168781	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	135	cd01391	37577159,NP_000379
846	1168781	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	101	cd06379	37577159,NP_000379
846	1168781	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	124	cd06374	37577159,NP_000379
846	1168781	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	80	cd06370	37577159,NP_000379
846	1168781	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	123	cd06352	37577159,NP_000379
846	1168781	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	122	cd06364	37577159,NP_000379
846	1168781	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	128	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	139	cd06362	37577159,NP_000379
846	1168781	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	112	cd06376	37577159,NP_000379
846	1168781	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	113	cd06365	37577159,NP_000379
846	1168781	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	117	cd06375	37577159,NP_000379
846	1168781	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	138	cd06363	37577159,NP_000379
846	1168781	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	114	cd06366	37577159,NP_000379
846	1168781	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	154	cd06268	37577159,NP_000379
846	296010811	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	113	cd06361	NULL
846	296010811	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	219	cd06269	NULL
846	296010811	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	135	cd04509	NULL
846	296010811	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	167	cd06350	NULL
846	296010811	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	135	cd01391	NULL
846	296010811	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	101	cd06379	NULL
846	296010811	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	124	cd06374	NULL
846	296010811	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	80	cd06370	NULL
846	296010811	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	123	cd06352	NULL
846	296010811	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	122	cd06364	NULL
846	296010811	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	128	pfam01094	NULL
846	296010811	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	139	cd06362	NULL
846	296010811	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	112	cd06376	NULL
846	296010811	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	113	cd06365	NULL
846	296010811	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	117	cd06375	NULL
846	296010811	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	138	cd06363	NULL
846	296010811	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	114	cd06366	NULL
846	296010811	Disease	p.Cys141Trp	601199.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	OMIM	154	cd06268	NULL
846	1168781	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	96	cd06361	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	190	cd06269	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	109	cd04509	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	138	cd06350	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	109	cd01391	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	87_G	cd06379	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	108	cd06374	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	70_G	cd06370	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	121_G	cd06352	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	106	cd06364	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	100	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	93	cd06362	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	87	cd06376	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	93	cd06365	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	98	cd06375	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	122	cd06363	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	106	cd06366	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	142	cd06268	37577159,NP_000379
846	296010811	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	96	cd06361	NULL
846	296010811	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	190	cd06269	NULL
846	296010811	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	109	cd04509	NULL
846	296010811	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	138	cd06350	NULL
846	296010811	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	109	cd01391	NULL
846	296010811	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	87_G	cd06379	NULL
846	296010811	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	108	cd06374	NULL
846	296010811	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	70_G	cd06370	NULL
846	296010811	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	121_G	cd06352	NULL
846	296010811	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	106	cd06364	NULL
846	296010811	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	100	pfam01094	NULL
846	296010811	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	93	cd06362	NULL
846	296010811	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	87	cd06376	NULL
846	296010811	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	93	cd06365	NULL
846	296010811	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	98	cd06375	NULL
846	296010811	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	122	cd06363	NULL
846	296010811	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	106	cd06366	NULL
846	296010811	Disease	p.Leu125Pro	601199.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL	OMIM	142	cd06268	NULL
846	1168781	Disease	p.Ser820Phe	601199.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	425	pfam00003	37577159,NP_000379
846	296010811	Disease	p.Ser820Phe	601199.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	415	pfam00003	NULL
846	1168781	Disease	p.Phe788Leu	601199.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	361	pfam00003	37577159,NP_000379
846	296010811	Disease	p.Phe788Leu	601199.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	351	pfam00003	NULL
846	1168781	Disease	p.Ala986Ser	601199.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	CALCIUM, SERUM LEVEL OF	OMIM	No Domain	N/A	37577159,NP_000379
846	296010811	Disease	p.Ala986Ser	601199.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	CALCIUM, SERUM LEVEL OF	OMIM	No Domain	N/A	NULL
846	1168781	Disease	p.Glu604Lys	601199.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	No Domain	N/A	37577159,NP_000379
846	296010811	Disease	p.Glu604Lys	601199.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	No Domain	N/A	NULL
846	1168781	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	424	cd06361	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	1068	cd06269	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	577	cd04509	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	654	cd06350	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	595	cd01391	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	358	cd06379	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	427	cd06374	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	441	cd06370	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	578	cd06352	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	446	cd06364	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	780	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	526	cd06362	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	413	cd06376	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	483	cd06365	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	456	cd06375	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	435	cd06363	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	491	cd06366	37577159,NP_000379
846	296010811	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	424	cd06361	NULL
846	296010811	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	1068	cd06269	NULL
846	296010811	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	577	cd04509	NULL
846	296010811	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	654	cd06350	NULL
846	296010811	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	595	cd01391	NULL
846	296010811	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	358	cd06379	NULL
846	296010811	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	427	cd06374	NULL
846	296010811	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	441	cd06370	NULL
846	296010811	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	578	cd06352	NULL
846	296010811	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	446	cd06364	NULL
846	296010811	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	780	pfam01094	NULL
846	296010811	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	526	cd06362	NULL
846	296010811	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	413	cd06376	NULL
846	296010811	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	483	cd06365	NULL
846	296010811	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	456	cd06375	NULL
846	296010811	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	435	cd06363	NULL
846	296010811	Disease	p.Arg465Gln	601199.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	491	cd06366	NULL
846	1168781	Disease	p.Leu13Pro	601199.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	No Domain	N/A	37577159,NP_000379
846	296010811	Disease	p.Leu13Pro	601199.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	No Domain	N/A	NULL
846	1168781	Disease	p.Leu727Gln	601199.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	206	pfam00003	37577159,NP_000379
846	296010811	Disease	p.Leu727Gln	601199.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	182	pfam00003	NULL
846	1168781	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	152	cd06361	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	368	cd06269	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	189	cd04509	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	216	cd06350	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	189	cd01391	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	148	cd06379	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	163	cd06374	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	121	cd06370	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	206	cd06352	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	161	cd06364	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	224	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	178	cd06362	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	151	cd06376	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	155	cd06365	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	156	cd06375	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	177	cd06363	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	158	cd06366	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	208	cd06268	37577159,NP_000379
846	296010811	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	152	cd06361	NULL
846	296010811	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	368	cd06269	NULL
846	296010811	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	189	cd04509	NULL
846	296010811	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	216	cd06350	NULL
846	296010811	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	189	cd01391	NULL
846	296010811	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	148	cd06379	NULL
846	296010811	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	163	cd06374	NULL
846	296010811	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	121	cd06370	NULL
846	296010811	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	206	cd06352	NULL
846	296010811	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	161	cd06364	NULL
846	296010811	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	224	pfam01094	NULL
846	296010811	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	178	cd06362	NULL
846	296010811	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	151	cd06376	NULL
846	296010811	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	155	cd06365	NULL
846	296010811	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	156	cd06375	NULL
846	296010811	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	177	cd06363	NULL
846	296010811	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	158	cd06366	NULL
846	296010811	Disease	p.Phe180Cys	601199.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	208	cd06268	NULL
846	1168781	Disease	p.Cys582Phe	601199.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	50	pfam07562	37577159,NP_000379
846	296010811	Disease	p.Cys582Phe	601199.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	38	pfam07562	NULL
846	1168781	Disease	p.Gly553Arg	601199.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	19	pfam07562	37577159,NP_000379
846	296010811	Disease	p.Gly553Arg	601199.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	6	pfam07562	NULL
846	1168781	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	199	cd06361	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	484	cd06269	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	251	cd04509	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	275	cd06350	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	260	cd01391	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	195	cd06379	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	210	cd06374	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	170	cd06370	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	285	cd06352	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	208	cd06364	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	328	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	241	cd06362	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	198	cd06376	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	202	cd06365	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	203	cd06375	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	224	cd06363	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	207	cd06366	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	268	cd06268	37577159,NP_000379
846	296010811	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	199	cd06361	NULL
846	296010811	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	484	cd06269	NULL
846	296010811	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	251	cd04509	NULL
846	296010811	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	275	cd06350	NULL
846	296010811	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	260	cd01391	NULL
846	296010811	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	195	cd06379	NULL
846	296010811	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	210	cd06374	NULL
846	296010811	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	170	cd06370	NULL
846	296010811	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	285	cd06352	NULL
846	296010811	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	208	cd06364	NULL
846	296010811	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	328	pfam01094	NULL
846	296010811	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	241	cd06362	NULL
846	296010811	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	198	cd06376	NULL
846	296010811	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	202	cd06365	NULL
846	296010811	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	203	cd06375	NULL
846	296010811	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	224	cd06363	NULL
846	296010811	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	207	cd06366	NULL
846	296010811	Disease	p.Arg227Gln	601199.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL	OMIM	268	cd06268	NULL
846	1168781	Disease	p.Arg898Gln	601199.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8	OMIM	No Domain	N/A	37577159,NP_000379
846	296010811	Disease	p.Arg898Gln	601199.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601199	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8	OMIM	No Domain	N/A	NULL
7096	146291086	Disease	p.Ile602Ser	601194.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601194	LEPROSY, PROTECTION AGAINST	OMIM	No Domain	N/A	41350337,NP_003254
7096	146291086	Disease	p.Asn248Ser	601194.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601194	LEPROSY, SUSCEPTIBILITY TO, 5	OMIM	No Domain	N/A	41350337,NP_003254
5903	83305554	Disease	p.Thr585Met	601181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601181	ENCEPHALOPATHY, ACUTE NECROTIZING 1, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	150418007,NP_006258
5903	83305554	Disease	p.Thr653Ile	601181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601181	ENCEPHALOPATHY, ACUTE NECROTIZING 1, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	150418007,NP_006258
5903	83305554	Disease	p.Ile656Val	601181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601181	ENCEPHALOPATHY, ACUTE NECROTIZING 1, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	150418007,NP_006258
392255	74748876	Disease	p.Ala249Glu	601147.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601147	KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT||MICROPHTHALMIA, ISOLATED 4	OMIM	414	pfam00688	48475062,NP_001001557
392255	74748876	Disease	p.Leu289Pro	601147.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601147	KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	48475062,NP_001001557
392255	74748876	Disease	p.Lys242Arg	601147.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601147	SPONDYLOCOSTAL DYSTOSTOSIS 4, AUTOSOMAL DOMINANT	OMIM	405	pfam00688	48475062,NP_001001557
392255	74748876	Disease	p.Gly42Val	601147.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601147	SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL DOMINANT	OMIM	39	pfam00688	48475062,NP_001001557
392255	74748876	Disease	p.Gln253Leu	601147.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601147	MICROPHTHALMIA, ISOLATED 4	OMIM	418	pfam00688	48475062,NP_001001557
392255	74748876	Disease	p.Pro327His	601147.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601147	MICROPHTHALMIA, ISOLATED 4	OMIM	No Domain	N/A	48475062,NP_001001557
8200	20141384	Disease	p.Cys400Tyr	601146.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146	CHONDRODYSPLASIA, GREBE TYPE	OMIM	4	pfam00019	4503969,NP_000548
8200	20141384	Disease	p.Leu441Pro	601146.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146	FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY||BRACHYDACTYLY, TYPE A2	OMIM	46	pfam00019	4503969,NP_000548
8200	20141384	Disease	p.Leu441Pro	601146.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146	FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY||BRACHYDACTYLY, TYPE A2	OMIM	47	smart00204	4503969,NP_000548
8200	20141384	Disease	p.Met173Val	601146.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146	BRACHYDACTYLY, TYPE C	OMIM	129	pfam00688	4503969,NP_000548
8200	20141384	Disease	p.Arg438Leu	601146.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146	SYMPHALANGISM, PROXIMAL||MULTIPLE SYNOSTOSES SYNDROME 2	OMIM	43	pfam00019	4503969,NP_000548
8200	20141384	Disease	p.Arg438Leu	601146.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146	SYMPHALANGISM, PROXIMAL||MULTIPLE SYNOSTOSES SYNDROME 2	OMIM	40	smart00204	4503969,NP_000548
8200	20141384	Disease	p.His440Leu	601146.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146	FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY	OMIM	45	pfam00019	4503969,NP_000548
8200	20141384	Disease	p.His440Leu	601146.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146	FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY	OMIM	42	smart00204	4503969,NP_000548
8200	20141384	Disease	p.Ser475Asn	601146.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146	MULTIPLE SYNOSTOSES SYNDROME 2	OMIM	88	pfam00019	4503969,NP_000548
8200	20141384	Disease	p.Ser475Asn	601146.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146	MULTIPLE SYNOSTOSES SYNDROME 2	OMIM	95	smart00204	4503969,NP_000548
8200	20141384	Disease	p.Glu491Lys	601146.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146	SYMPHALANGISM, PROXIMAL	OMIM	105	pfam00019	4503969,NP_000548
8200	20141384	Disease	p.Glu491Lys	601146.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146	SYMPHALANGISM, PROXIMAL	OMIM	113	smart00204	4503969,NP_000548
8200	20141384	Disease	p.Leu373Arg	601146.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146	SYMPHALANGISM, PROXIMAL	OMIM	No Domain	N/A	4503969,NP_000548
8200	20141384	Disease	p.Arg378Gln	601146.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146	FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY	OMIM	No Domain	N/A	4503969,NP_000548
8200	20141384	Disease	p.Pro436Thr	601146.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146	FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY	OMIM	41	pfam00019	4503969,NP_000548
8200	20141384	Disease	p.Pro436Thr	601146.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601146	FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY	OMIM	38	smart00204	4503969,NP_000548
1476	1706278	Disease	p.Gly4Arg	601145.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601145	MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG	OMIM	4	smart00043	4503117,NP_000091
1476	1706278	Disease	p.Gln71Pro	601145.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601145	MYCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG	OMIM	124	smart00043	4503117,NP_000091
1476	1706278	Disease	p.Gln71Pro	601145.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601145	MYCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG	OMIM	82	pfam00031	4503117,NP_000091
1476	1706278	Disease	p.Gln71Pro	601145.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601145	MYCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG	OMIM	115	cd00042	4503117,NP_000091
1639	205277392	Disease	p.Gly59Ser	601143.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB	OMIM	120	pfam01302	NULL
1639	299890875	Disease	p.Gly59Ser	601143.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB	OMIM	120	pfam01302	NULL
1639	13259508	Disease	p.Gly59Ser	601143.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB	OMIM	No Domain	N/A	NULL
1639	17375490	Disease	p.Gly59Ser	601143.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB	OMIM	120	pfam01302	13259510,NP_004073
1639	299890871	Disease	p.Gly59Ser	601143.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB	OMIM	159	pfam01302	NULL
1639	205277396	Disease	p.Gly59Ser	601143.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB	OMIM	No Domain	N/A	NULL
1639	205277392	Disease	p.Thr1249Ile	601143.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
1639	299890875	Disease	p.Thr1249Ile	601143.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
1639	13259508	Disease	p.Thr1249Ile	601143.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
1639	17375490	Disease	p.Thr1249Ile	601143.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	13259510,NP_004073
1639	299890871	Disease	p.Thr1249Ile	601143.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
1639	205277396	Disease	p.Thr1249Ile	601143.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
1639	205277392	Disease	p.Met571Thr	601143.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	74	pfam12455	NULL
1639	299890875	Disease	p.Met571Thr	601143.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	61	pfam12455	NULL
1639	13259508	Disease	p.Met571Thr	601143.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	228	pfam12455	NULL
1639	17375490	Disease	p.Met571Thr	601143.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	54	pfam12455	13259510,NP_004073
1639	299890871	Disease	p.Met571Thr	601143.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	95	pfam12455	NULL
1639	205277396	Disease	p.Met571Thr	601143.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	228	pfam12455	NULL
1639	205277392	Disease	p.Arg785Trp	601143.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
1639	299890875	Disease	p.Arg785Trp	601143.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	349	pfam12455	NULL
1639	13259508	Disease	p.Arg785Trp	601143.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
1639	17375490	Disease	p.Arg785Trp	601143.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	330	pfam12455	13259510,NP_004073
1639	299890871	Disease	p.Arg785Trp	601143.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
1639	205277396	Disease	p.Arg785Trp	601143.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
1639	205277392	Disease	p.Arg1101Lys	601143.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
1639	299890875	Disease	p.Arg1101Lys	601143.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
1639	13259508	Disease	p.Arg1101Lys	601143.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
1639	17375490	Disease	p.Arg1101Lys	601143.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	13259510,NP_004073
1639	299890871	Disease	p.Arg1101Lys	601143.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
1639	205277396	Disease	p.Arg1101Lys	601143.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
1639	205277392	Disease	p.Gly71Arg	601143.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	PERRY SYNDROME	OMIM	151	pfam01302	NULL
1639	299890875	Disease	p.Gly71Arg	601143.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	PERRY SYNDROME	OMIM	151	pfam01302	NULL
1639	13259508	Disease	p.Gly71Arg	601143.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	PERRY SYNDROME	OMIM	No Domain	N/A	NULL
1639	17375490	Disease	p.Gly71Arg	601143.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	PERRY SYNDROME	OMIM	151	pfam01302	13259510,NP_004073
1639	299890871	Disease	p.Gly71Arg	601143.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	PERRY SYNDROME	OMIM	192	pfam01302	NULL
1639	205277396	Disease	p.Gly71Arg	601143.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	PERRY SYNDROME	OMIM	No Domain	N/A	NULL
1639	205277392	Disease	p.Gln74Pro	601143.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	PERRY SYNDROME	OMIM	157	pfam01302	NULL
1639	299890875	Disease	p.Gln74Pro	601143.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	PERRY SYNDROME	OMIM	157	pfam01302	NULL
1639	13259508	Disease	p.Gln74Pro	601143.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	PERRY SYNDROME	OMIM	No Domain	N/A	NULL
1639	17375490	Disease	p.Gln74Pro	601143.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	PERRY SYNDROME	OMIM	157	pfam01302	13259510,NP_004073
1639	299890871	Disease	p.Gln74Pro	601143.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	PERRY SYNDROME	OMIM	195	pfam01302	NULL
1639	205277396	Disease	p.Gln74Pro	601143.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601143	PERRY SYNDROME	OMIM	No Domain	N/A	NULL
1559	6686268	Disease	p.Ile359Leu	601130.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601130	TOLBUTAMIDE POOR METABOLIZER||WARFARIN SENSITIVITY||PHENYTOIN POOR METABOLIZER||GLIPIZIDE POOR METABOLIZER	OMIM	405	pfam00067	13699818,NP_000762
1559	6686268	Disease	p.Ile359Leu	601130.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601130	TOLBUTAMIDE POOR METABOLIZER||WARFARIN SENSITIVITY||PHENYTOIN POOR METABOLIZER||GLIPIZIDE POOR METABOLIZER	OMIM	405	COG2124	13699818,NP_000762
1559	6686268	Disease	p.Arg144Cys	601130.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601130	WARFARIN SENSITIVITY	OMIM	130	pfam00067	13699818,NP_000762
1559	6686268	Disease	p.Arg144Cys	601130.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601130	WARFARIN SENSITIVITY	OMIM	159	COG2124	13699818,NP_000762
1559	6686268	Disease	p.Leu208Val	601130.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601130	WARFARIN SENSITIVITY	OMIM	214	pfam00067	13699818,NP_000762
1559	6686268	Disease	p.Leu208Val	601130.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601130	WARFARIN SENSITIVITY	OMIM	226	COG2124	13699818,NP_000762
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	167	cd03291	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	128	cd03237	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	143	COG4604	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	164	cd03226	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	149	cd03254	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	156	cd03235	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	1281	cd00267	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	183	cd03225	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	307	cd03215	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	150	cd03245	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	222	cd03288	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	140	COG4148	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	157	cd03297	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	185	cd03234	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	169	COG1118	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	184	cd03293	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	168	COG1127	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	147	cd03252	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	274	cd03249	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	144	cd03295	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	177	cd03255	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	149	cd03246	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	175	cd03230	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	147	COG4525	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	144	COG4136	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	145	COG4619	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	166	cd03251	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	145	cd03296	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	150	COG4161	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	159	cd03290	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	312	cd03228	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	258	cd03221	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	259	cd03250	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	192	cd03229	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	146	COG4133	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	157	COG4181	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	136	cd03298	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	206	cd03301	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	152	cd03247	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	142	cd03300	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	158	cd03217	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	167	COG1126	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	213	cd03214	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	1392	COG1132	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	471	COG4615	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	162	COG1121	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	259	pfam00005	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	162	COG1116	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	423	COG3839	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	208	COG0488	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	488	COG1122	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	154	COG1137	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	202	cd03233	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	161	COG4598	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	164	COG3638	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	172	COG1134	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	378	COG3842	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	181	COG1117	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	686	COG1123	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	201	COG1131	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	137	cd03269	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	238	cd03271	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	255	smart00382	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	187	COG4586	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	146	COG2884	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	137	COG3840	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	183	COG1136	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	175	COG1135	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	150	COG1125	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	163	cd03289	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	217	COG0396	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	175	cd03220	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	136	cd03231	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	147	cd03222	NULL
1244	4557481	Disease	p.Arg768Trp	601107.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	157	COG4167	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	60	pfam00005	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	254	cd03257	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	242	COG0444	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	98	cd03258	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	97	smart00382	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	119	cd03225	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	228	cd00267	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	142	cd03214	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	347	COG5265	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	160	cd03288	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	623	COG2274	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	452	COG4618	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	121	COG0411	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	101_G	cd03219	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	422	COG1122	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	103	cd03213	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	94	COG0410	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	104	COG1124	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	95	cd03248	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	417	COG4988	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	96	cd03244	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	87	cd03245	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	132	COG1120	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	84	cd03289	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	84	cd03254	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	78	cd03299	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	156	COG4608	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	128	COG1131	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	122	cd03294	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	89	cd03369	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	436	COG4987	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	720	COG4178	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	1277	COG1132	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	82	COG4559	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	123	cd03229	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	97	cd03290	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	166	cd03250	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	202	cd03228	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	86	cd03261	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	102	cd03253	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	161	cd03249	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	87	COG1101	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	79	COG4138	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	94	cd03224	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	87	COG4555	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	105	cd03216	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	92	cd03256	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	134	cd03263	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	80	cd03265	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	84	cd03268	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	94	cd03266	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	83	cd03247	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	104	cd03264	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	110	cd03259	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	102	cd03267	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	86	cd03251	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	86	cd03292	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	98	cd03262	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	86	cd03246	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	127	cd03223	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	108	cd03230	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	98	cd03260	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	84	cd03252	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	84	cd03218	NULL
1244	4557481	Disease	p.Gln1382Arg	601107.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	135_G	COG1119	NULL
1244	4557481	Disease	p.Ile1173Phe	601107.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	135	COG5265	NULL
1244	4557481	Disease	p.Ile1173Phe	601107.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	383	COG2274	NULL
1244	4557481	Disease	p.Ile1173Phe	601107.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	239	COG4618	NULL
1244	4557481	Disease	p.Ile1173Phe	601107.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	193	COG4988	NULL
1244	4557481	Disease	p.Ile1173Phe	601107.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	286	pfam00664	NULL
1244	4557481	Disease	p.Ile1173Phe	601107.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	222	COG4987	NULL
1244	4557481	Disease	p.Ile1173Phe	601107.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	436	COG4178	NULL
1244	4557481	Disease	p.Ile1173Phe	601107.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	651	COG1132	NULL
1244	4557481	Disease	p.Arg1150His	601107.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	112	COG5265	NULL
1244	4557481	Disease	p.Arg1150His	601107.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	361	COG2274	NULL
1244	4557481	Disease	p.Arg1150His	601107.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	222	COG4618	NULL
1244	4557481	Disease	p.Arg1150His	601107.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	172	COG4988	NULL
1244	4557481	Disease	p.Arg1150His	601107.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	249	pfam00664	NULL
1244	4557481	Disease	p.Arg1150His	601107.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	200	COG4987	NULL
1244	4557481	Disease	p.Arg1150His	601107.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	407	COG4178	NULL
1244	4557481	Disease	p.Arg1150His	601107.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601107	DUBIN-JOHNSON SYNDROME	OMIM	605	COG1132	NULL
1513	1168793	Disease	p.Gly146Arg	601105.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	175	COG4870	4503151,NP_000387
1513	1168793	Disease	p.Gly146Arg	601105.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	51	cd02248	4503151,NP_000387
1513	1168793	Disease	p.Gly146Arg	601105.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	36	cd02620	4503151,NP_000387
1513	1168793	Disease	p.Gly146Arg	601105.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	38	cd02619	4503151,NP_000387
1513	1168793	Disease	p.Gly146Arg	601105.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	49	smart00645	4503151,NP_000387
1513	1168793	Disease	p.Gly146Arg	601105.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	38	cd02698	4503151,NP_000387
1513	1168793	Disease	p.Gly146Arg	601105.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	40	pfam00112	4503151,NP_000387
1513	1168793	Disease	p.Gly146Arg	601105.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	38	cd02621	4503151,NP_000387
1513	1168793	Disease	p.Ala277Val	601105.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	320	COG4870	4503151,NP_000387
1513	1168793	Disease	p.Ala277Val	601105.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	453	cd02248	4503151,NP_000387
1513	1168793	Disease	p.Ala277Val	601105.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	268	cd02620	4503151,NP_000387
1513	1168793	Disease	p.Ala277Val	601105.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	437	cd02619	4503151,NP_000387
1513	1168793	Disease	p.Ala277Val	601105.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	363	smart00645	4503151,NP_000387
1513	1168793	Disease	p.Ala277Val	601105.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	209	cd02698	4503151,NP_000387
1513	1168793	Disease	p.Ala277Val	601105.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	266	pfam00112	4503151,NP_000387
1513	1168793	Disease	p.Ala277Val	601105.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	276	cd02621	4503151,NP_000387
1513	1168793	Disease	p.Gly79Glu	601105.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	92	COG4870	4503151,NP_000387
1513	1168793	Disease	p.Gly79Glu	601105.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	162	smart00848	4503151,NP_000387
1513	1168793	Disease	p.Gly79Glu	601105.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	132	pfam08246	4503151,NP_000387
1513	1168793	Disease	p.Leu309Pro	601105.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	364	COG4870	4503151,NP_000387
1513	1168793	Disease	p.Leu309Pro	601105.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	550	cd02248	4503151,NP_000387
1513	1168793	Disease	p.Leu309Pro	601105.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	306	cd02620	4503151,NP_000387
1513	1168793	Disease	p.Leu309Pro	601105.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	519	cd02619	4503151,NP_000387
1513	1168793	Disease	p.Leu309Pro	601105.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	633	smart00645	4503151,NP_000387
1513	1168793	Disease	p.Leu309Pro	601105.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	246	cd02698	4503151,NP_000387
1513	1168793	Disease	p.Leu309Pro	601105.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	337	pfam00112	4503151,NP_000387
1513	1168793	Disease	p.Leu309Pro	601105.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601105	PYCNODYSOSTOSIS	OMIM	331	cd02621	4503151,NP_000387
5827	27923831	Disease	p.Leu16Pro	601097.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601097	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A	OMIM	No Domain	N/A	8923892,NP_061133
5827	27923831	Disease	p.Ser79Cys	601097.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601097	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A	OMIM	No Domain	N/A	8923892,NP_061133
5827	27923831	Disease	p.Thr118Met	601097.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601097	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, AUTOSOMAL RECESSIVE||NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES	OMIM	No Domain	N/A	8923892,NP_061133
5827	27923831	Disease	p.Met69Lys	601097.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601097	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	8923892,NP_061133
5827	27923831	Disease	p.Ser72Leu	601097.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601097	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	8923892,NP_061133
5827	27923831	Disease	p.His12Gln	601097.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601097	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	8923892,NP_061133
5827	27923831	Disease	p.Ala67Pro	601097.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601097	CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS	OMIM	No Domain	N/A	8923892,NP_061133
5827	27923831	Disease	p.Gly150Cys	601097.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601097	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	OMIM	32	pfam04117	8923892,NP_061133
5827	27923831	Disease	p.Trp28Arg	601097.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601097	CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS	OMIM	No Domain	N/A	8923892,NP_061133
5827	27923831	Disease	p.Asp37Val	601097.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601097	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	No Domain	N/A	8923892,NP_061133
5827	27923831	Disease	p.Ala67Thr	601097.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601097	NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES	OMIM	No Domain	N/A	8923892,NP_061133
5827	27923831	Disease	p.Arg157Trp	601097.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601097	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL RECESSIVE	OMIM	44	pfam04117	8923892,NP_061133
5827	27923831	Disease	p.Ser22Phe	601097.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601097	NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A	OMIM	No Domain	N/A	8923892,NP_061133
2299	21618329	Disease	p.Gly258Glu	601093.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601093	ENLARGED VESTIBULAR AQUEDUCT, DIGENIC	OMIM	No Domain	N/A	NULL
2299	150421552	Disease	p.Gly258Glu	601093.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601093	ENLARGED VESTIBULAR AQUEDUCT, DIGENIC	OMIM	No Domain	N/A	21618327,NP_036320
2299	21618329	Disease	p.Arg267Gln	601093.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601093	ENLARGED VESTIBULAR AQUEDUCT||PENDRED SYNDROME	OMIM	No Domain	N/A	NULL
2299	150421552	Disease	p.Arg267Gln	601093.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601093	ENLARGED VESTIBULAR AQUEDUCT||PENDRED SYNDROME	OMIM	No Domain	N/A	21618327,NP_036320
2296	13638267	Disease	p.Ser131Leu	601090.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601090	RIEGER ANOMALY	OMIM	81	smart00339	119395716,NP_001444
2296	13638267	Disease	p.Ser131Leu	601090.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601090	RIEGER ANOMALY	OMIM	60	cd00059	119395716,NP_001444
2296	13638267	Disease	p.Ser131Leu	601090.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601090	RIEGER ANOMALY	OMIM	76	pfam00250	119395716,NP_001444
2296	13638267	Disease	p.Ile126Met	601090.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601090	AXENFELD ANOMALY	OMIM	76	smart00339	119395716,NP_001444
2296	13638267	Disease	p.Ile126Met	601090.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601090	AXENFELD ANOMALY	OMIM	55	cd00059	119395716,NP_001444
2296	13638267	Disease	p.Ile126Met	601090.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601090	AXENFELD ANOMALY	OMIM	71	pfam00250	119395716,NP_001444
2296	13638267	Disease	p.Phe112Ser	601090.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601090	RIEGER ANOMALY||AXENFELD ANOMALY||AXENFELD-RIEGER SYNDROME, TYPE 3||PETERS ANOMALY	OMIM	36	smart00339	119395716,NP_001444
2296	13638267	Disease	p.Phe112Ser	601090.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601090	RIEGER ANOMALY||AXENFELD ANOMALY||AXENFELD-RIEGER SYNDROME, TYPE 3||PETERS ANOMALY	OMIM	36	cd00059	119395716,NP_001444
2296	13638267	Disease	p.Phe112Ser	601090.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601090	RIEGER ANOMALY||AXENFELD ANOMALY||AXENFELD-RIEGER SYNDROME, TYPE 3||PETERS ANOMALY	OMIM	57	pfam00250	119395716,NP_001444
2296	13638267	Disease	p.Ser82Thr	601090.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601090	AXENFELD-RIEGER SYNDROME, TYPE 3	OMIM	5	smart00339	119395716,NP_001444
2296	13638267	Disease	p.Ser82Thr	601090.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601090	AXENFELD-RIEGER SYNDROME, TYPE 3	OMIM	5	cd00059	119395716,NP_001444
2296	13638267	Disease	p.Ser82Thr	601090.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601090	AXENFELD-RIEGER SYNDROME, TYPE 3	OMIM	26	pfam00250	119395716,NP_001444
2296	13638267	Disease	p.Ile87Met	601090.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601090	AXENFELD-RIEGER ANOMALY	OMIM	11	smart00339	119395716,NP_001444
2296	13638267	Disease	p.Ile87Met	601090.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601090	AXENFELD-RIEGER ANOMALY	OMIM	10	cd00059	119395716,NP_001444
2296	13638267	Disease	p.Ile87Met	601090.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601090	AXENFELD-RIEGER ANOMALY	OMIM	31	pfam00250	119395716,NP_001444
2296	13638267	Disease	p.Leu130Phe	601090.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601090	AXENFELD-RIEGER SYNDROME, TYPE 3	OMIM	80	smart00339	119395716,NP_001444
2296	13638267	Disease	p.Leu130Phe	601090.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601090	AXENFELD-RIEGER SYNDROME, TYPE 3	OMIM	59	cd00059	119395716,NP_001444
2296	13638267	Disease	p.Leu130Phe	601090.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601090	AXENFELD-RIEGER SYNDROME, TYPE 3	OMIM	75	pfam00250	119395716,NP_001444
16	115502460	Disease	p.Arg329His	601065.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601065	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N	OMIM	395	pfam01411	109148542,NP_001596
16	115502460	Disease	p.Arg329His	601065.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601065	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N	OMIM	436	COG0013	109148542,NP_001596
7415	6094447	Disease	p.Arg155His	601023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	159	COG0465	6005942,NP_009057
7415	6094447	Disease	p.Arg155His	601023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	48	pfam02933	6005942,NP_009057
7415	6094447	Disease	p.Arg155His	601023.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	136	COG1222	6005942,NP_009057
7415	6094447	Disease	p.Arg155Cys	601023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	159	COG0465	6005942,NP_009057
7415	6094447	Disease	p.Arg155Cys	601023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	48	pfam02933	6005942,NP_009057
7415	6094447	Disease	p.Arg155Cys	601023.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	136	COG1222	6005942,NP_009057
7415	6094447	Disease	p.Ala232Glu	601023.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	12	COG0464	6005942,NP_009057
7415	6094447	Disease	p.Ala232Glu	601023.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	77	cd00009	6005942,NP_009057
7415	6094447	Disease	p.Ala232Glu	601023.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	291	COG0465	6005942,NP_009057
7415	6094447	Disease	p.Ala232Glu	601023.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	227	COG1222	6005942,NP_009057
7415	6094447	Disease	p.Arg95Gly	601023.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	99	pfam02359	6005942,NP_009057
7415	6094447	Disease	p.Arg95Gly	601023.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	59	COG0465	6005942,NP_009057
7415	6094447	Disease	p.Arg95Gly	601023.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	40	COG1222	6005942,NP_009057
7415	6094447	Disease	p.Arg155Pro	601023.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	159	COG0465	6005942,NP_009057
7415	6094447	Disease	p.Arg155Pro	601023.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	48	pfam02933	6005942,NP_009057
7415	6094447	Disease	p.Arg155Pro	601023.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	136	COG1222	6005942,NP_009057
7415	6094447	Disease	p.Arg191Gln	601023.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	219	COG0465	6005942,NP_009057
7415	6094447	Disease	p.Arg191Gln	601023.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	184	COG1222	6005942,NP_009057
7415	6094447	Disease	p.Arg159His	601023.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	163	COG0465	6005942,NP_009057
7415	6094447	Disease	p.Arg159His	601023.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	70	pfam02933	6005942,NP_009057
7415	6094447	Disease	p.Arg159His	601023.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601023	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	OMIM	140	COG1222	6005942,NP_009057
6640	23822157	Disease	p.Ala390Val	601017.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601017	LONG QT SYNDROME 12	OMIM	286	pfam00169	4507137,NP_003089
6640	23822157	Disease	p.Ala390Val	601017.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601017	LONG QT SYNDROME 12	OMIM	155	cd01258	4507137,NP_003089
10577	48429027	Disease	p.Ser67Pro	601015.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601015	NIEMANN-PICK DISEASE, TYPE C2	OMIM	43	cd00918	5453678,NP_006423
10577	48429027	Disease	p.Ser67Pro	601015.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601015	NIEMANN-PICK DISEASE, TYPE C2	OMIM	86	smart00737	5453678,NP_006423
10577	48429027	Disease	p.Ser67Pro	601015.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601015	NIEMANN-PICK DISEASE, TYPE C2	OMIM	56	cd00916	5453678,NP_006423
10577	48429027	Disease	p.Ser67Pro	601015.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601015	NIEMANN-PICK DISEASE, TYPE C2	OMIM	55	cd00912	5453678,NP_006423
10577	48429027	Disease	p.Ser67Pro	601015.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601015	NIEMANN-PICK DISEASE, TYPE C2	OMIM	71	pfam02221	5453678,NP_006423
10577	48429027	Disease	p.Val39Met	601015.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601015	NIEMANN-PICK DISEASE, TYPE C2	OMIM	14	cd00918	5453678,NP_006423
10577	48429027	Disease	p.Val39Met	601015.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601015	NIEMANN-PICK DISEASE, TYPE C2	OMIM	28	smart00737	5453678,NP_006423
10577	48429027	Disease	p.Val39Met	601015.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601015	NIEMANN-PICK DISEASE, TYPE C2	OMIM	22	cd00916	5453678,NP_006423
10577	48429027	Disease	p.Val39Met	601015.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601015	NIEMANN-PICK DISEASE, TYPE C2	OMIM	19	cd00912	5453678,NP_006423
10577	48429027	Disease	p.Val39Met	601015.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601015	NIEMANN-PICK DISEASE, TYPE C2	OMIM	31	pfam02221	5453678,NP_006423
10577	48429027	Disease	p.Pro120Ser	601015.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601015	NIEMANN-PICK DISEASE, TYPE C2	OMIM	97	cd00918	5453678,NP_006423
10577	48429027	Disease	p.Pro120Ser	601015.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601015	NIEMANN-PICK DISEASE, TYPE C2	OMIM	209	smart00737	5453678,NP_006423
10577	48429027	Disease	p.Pro120Ser	601015.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601015	NIEMANN-PICK DISEASE, TYPE C2	OMIM	127	cd00916	5453678,NP_006423
10577	48429027	Disease	p.Pro120Ser	601015.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601015	NIEMANN-PICK DISEASE, TYPE C2	OMIM	150	cd00912	5453678,NP_006423
10577	48429027	Disease	p.Pro120Ser	601015.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601015	NIEMANN-PICK DISEASE, TYPE C2	OMIM	145	pfam02221	5453678,NP_006423
773	187828880	Disease	p.Arg192Gln	601011.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	130	pfam00520	NULL
773	187828892	Disease	p.Arg192Gln	601011.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	130	pfam00520	NULL
773	148536844	Disease	p.Arg192Gln	601011.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	130	pfam00520	NULL
773	148536846	Disease	p.Arg192Gln	601011.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	130	pfam00520	NULL
773	291463273	Disease	p.Arg192Gln	601011.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	130	pfam00520	NULL
773	187828880	Disease	p.Thr666Met	601011.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1||MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA||MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA	OMIM	340	pfam00520	NULL
773	187828892	Disease	p.Thr666Met	601011.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1||MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA||MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA	OMIM	341	pfam00520	NULL
773	148536844	Disease	p.Thr666Met	601011.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1||MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA||MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA	OMIM	340	pfam00520	NULL
773	148536846	Disease	p.Thr666Met	601011.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1||MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA||MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA	OMIM	340	pfam00520	NULL
773	291463273	Disease	p.Thr666Met	601011.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1||MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA||MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA	OMIM	340	pfam00520	NULL
773	187828880	Disease	p.Val714Ala	601011.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	No Domain	N/A	NULL
773	187828892	Disease	p.Val714Ala	601011.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	No Domain	N/A	NULL
773	148536844	Disease	p.Val714Ala	601011.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	No Domain	N/A	NULL
773	148536846	Disease	p.Val714Ala	601011.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	No Domain	N/A	NULL
773	291463273	Disease	p.Val714Ala	601011.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	No Domain	N/A	NULL
773	187828880	Disease	p.Ile1811Leu	601011.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	No Domain	N/A	NULL
773	187828892	Disease	p.Ile1811Leu	601011.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	No Domain	N/A	NULL
773	148536844	Disease	p.Ile1811Leu	601011.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	403	pfam00520	NULL
773	148536846	Disease	p.Ile1811Leu	601011.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	403	pfam00520	NULL
773	291463273	Disease	p.Ile1811Leu	601011.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	406	pfam00520	NULL
773	187828880	Disease	p.Gly293Arg	601011.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	SPINOCEREBELLAR ATAXIA 6||EPISODIC ATAXIA, TYPE 2	OMIM	317	pfam00520	NULL
773	187828892	Disease	p.Gly293Arg	601011.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	SPINOCEREBELLAR ATAXIA 6||EPISODIC ATAXIA, TYPE 2	OMIM	317	pfam00520	NULL
773	148536844	Disease	p.Gly293Arg	601011.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	SPINOCEREBELLAR ATAXIA 6||EPISODIC ATAXIA, TYPE 2	OMIM	317	pfam00520	NULL
773	148536846	Disease	p.Gly293Arg	601011.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	SPINOCEREBELLAR ATAXIA 6||EPISODIC ATAXIA, TYPE 2	OMIM	317	pfam00520	NULL
773	291463273	Disease	p.Gly293Arg	601011.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	SPINOCEREBELLAR ATAXIA 6||EPISODIC ATAXIA, TYPE 2	OMIM	317	pfam00520	NULL
773	187828880	Disease	p.Asp715Glu	601011.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA||MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	No Domain	N/A	NULL
773	187828892	Disease	p.Asp715Glu	601011.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA||MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	No Domain	N/A	NULL
773	148536844	Disease	p.Asp715Glu	601011.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA||MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	No Domain	N/A	NULL
773	148536846	Disease	p.Asp715Glu	601011.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA||MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	No Domain	N/A	NULL
773	291463273	Disease	p.Asp715Glu	601011.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA||MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	No Domain	N/A	NULL
773	187828880	Disease	p.Arg1666His	601011.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	135	pfam00520	NULL
773	187828892	Disease	p.Arg1666His	601011.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	139	pfam00520	NULL
773	148536844	Disease	p.Arg1666His	601011.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	130	pfam00520	NULL
773	148536846	Disease	p.Arg1666His	601011.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	130	pfam00520	NULL
773	291463273	Disease	p.Arg1666His	601011.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	133	pfam00520	NULL
773	187828880	Disease	p.Phe1491Ser	601011.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	388	pfam00520	NULL
773	187828892	Disease	p.Phe1491Ser	601011.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	389	pfam00520	NULL
773	148536844	Disease	p.Phe1491Ser	601011.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	385	pfam00520	NULL
773	148536846	Disease	p.Phe1491Ser	601011.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	385	pfam00520	NULL
773	291463273	Disease	p.Phe1491Ser	601011.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	388	pfam00520	NULL
773	187828880	Disease	p.Tyr1385Cys	601011.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	185	pfam00520	NULL
773	187828892	Disease	p.Tyr1385Cys	601011.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	186	pfam00520	NULL
773	148536844	Disease	p.Tyr1385Cys	601011.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	182	pfam00520	NULL
773	148536846	Disease	p.Tyr1385Cys	601011.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	182	pfam00520	NULL
773	291463273	Disease	p.Tyr1385Cys	601011.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	185	pfam00520	NULL
773	187828880	Disease	p.Glu1757Lys	601011.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	343	pfam00520	NULL
773	187828892	Disease	p.Glu1757Lys	601011.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	344	pfam00520	NULL
773	148536844	Disease	p.Glu1757Lys	601011.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	338	pfam00520	NULL
773	148536846	Disease	p.Glu1757Lys	601011.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	338	pfam00520	NULL
773	291463273	Disease	p.Glu1757Lys	601011.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	341	pfam00520	NULL
773	187828880	Disease	p.Ser218Leu	601011.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA	OMIM	168	pfam00520	NULL
773	187828892	Disease	p.Ser218Leu	601011.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA	OMIM	168	pfam00520	NULL
773	148536844	Disease	p.Ser218Leu	601011.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA	OMIM	168	pfam00520	NULL
773	148536846	Disease	p.Ser218Leu	601011.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA	OMIM	168	pfam00520	NULL
773	291463273	Disease	p.Ser218Leu	601011.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA	OMIM	168	pfam00520	NULL
773	187828880	Disease	p.Arg583Gln	601011.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1||MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA||MIGRAINE, SPORADIC HEMIPLEGIC||SPINOCEREBELLAR ATAXIA 6	OMIM	130	pfam00520	NULL
773	187828892	Disease	p.Arg583Gln	601011.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1||MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA||MIGRAINE, SPORADIC HEMIPLEGIC||SPINOCEREBELLAR ATAXIA 6	OMIM	131	pfam00520	NULL
773	148536844	Disease	p.Arg583Gln	601011.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1||MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA||MIGRAINE, SPORADIC HEMIPLEGIC||SPINOCEREBELLAR ATAXIA 6	OMIM	130	pfam00520	NULL
773	148536846	Disease	p.Arg583Gln	601011.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1||MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA||MIGRAINE, SPORADIC HEMIPLEGIC||SPINOCEREBELLAR ATAXIA 6	OMIM	130	pfam00520	NULL
773	291463273	Disease	p.Arg583Gln	601011.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1||MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA||MIGRAINE, SPORADIC HEMIPLEGIC||SPINOCEREBELLAR ATAXIA 6	OMIM	130	pfam00520	NULL
773	187828880	Disease	p.Val1457Leu	601011.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	339	pfam00520	NULL
773	187828892	Disease	p.Val1457Leu	601011.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	340	pfam00520	NULL
773	148536844	Disease	p.Val1457Leu	601011.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	336	pfam00520	NULL
773	148536846	Disease	p.Val1457Leu	601011.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	336	pfam00520	NULL
773	291463273	Disease	p.Val1457Leu	601011.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	339	pfam00520	NULL
773	187828880	Disease	p.Phe1406Cys	601011.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	206	pfam00520	NULL
773	187828892	Disease	p.Phe1406Cys	601011.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	207	pfam00520	NULL
773	148536844	Disease	p.Phe1406Cys	601011.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	203	pfam00520	NULL
773	148536846	Disease	p.Phe1406Cys	601011.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	203	pfam00520	NULL
773	291463273	Disease	p.Phe1406Cys	601011.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	206	pfam00520	NULL
773	187828880	Disease	p.Ile1710Thr	601011.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1||SPINOCEREBELLAR ATAXIA 6	OMIM	195	pfam00520	NULL
773	187828892	Disease	p.Ile1710Thr	601011.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1||SPINOCEREBELLAR ATAXIA 6	OMIM	196	pfam00520	NULL
773	148536844	Disease	p.Ile1710Thr	601011.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1||SPINOCEREBELLAR ATAXIA 6	OMIM	190	pfam00520	NULL
773	148536846	Disease	p.Ile1710Thr	601011.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1||SPINOCEREBELLAR ATAXIA 6	OMIM	190	pfam00520	NULL
773	291463273	Disease	p.Ile1710Thr	601011.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1||SPINOCEREBELLAR ATAXIA 6	OMIM	193	pfam00520	NULL
773	187828880	Disease	p.Cys287Tyr	601011.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	311	pfam00520	NULL
773	187828892	Disease	p.Cys287Tyr	601011.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	311	pfam00520	NULL
773	148536844	Disease	p.Cys287Tyr	601011.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	311	pfam00520	NULL
773	148536846	Disease	p.Cys287Tyr	601011.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	311	pfam00520	NULL
773	291463273	Disease	p.Cys287Tyr	601011.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	EPISODIC ATAXIA, TYPE 2	OMIM	311	pfam00520	NULL
773	187828880	Disease	p.Arg1347Gln	601011.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	134	pfam00520	NULL
773	187828892	Disease	p.Arg1347Gln	601011.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	135	pfam00520	NULL
773	148536844	Disease	p.Arg1347Gln	601011.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	131	pfam00520	NULL
773	148536846	Disease	p.Arg1347Gln	601011.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	131	pfam00520	NULL
773	291463273	Disease	p.Arg1347Gln	601011.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601011	MIGRAINE, FAMILIAL HEMIPLEGIC, 1	OMIM	134	pfam00520	NULL
54741	310923122	Disease	p.Gln223Arg	601007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601007	LEPTIN RECEPTOR POLYMORPHISM	OMIM	No Domain	N/A	NULL
54741	6093608	Disease	p.Gln223Arg	601007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601007	LEPTIN RECEPTOR POLYMORPHISM	OMIM	No Domain	N/A	8923785,NP_059996
54741	310923132	Disease	p.Gln223Arg	601007.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601007	LEPTIN RECEPTOR POLYMORPHISM	OMIM	No Domain	N/A	NULL
54741	310923122	Disease	p.Lys109Arg	601007.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601007	LEPTIN RECEPTOR POLYMORPHISM	OMIM	113	pfam04133	NULL
54741	6093608	Disease	p.Lys109Arg	601007.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601007	LEPTIN RECEPTOR POLYMORPHISM	OMIM	122	pfam04133	8923785,NP_059996
54741	310923132	Disease	p.Lys109Arg	601007.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601007	LEPTIN RECEPTOR POLYMORPHISM	OMIM	No Domain	N/A	NULL
54741	310923122	Disease	p.Lys656Asn	601007.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601007	LEPTIN RECEPTOR POLYMORPHISM	OMIM	No Domain	N/A	NULL
54741	6093608	Disease	p.Lys656Asn	601007.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601007	LEPTIN RECEPTOR POLYMORPHISM	OMIM	No Domain	N/A	8923785,NP_059996
54741	310923132	Disease	p.Lys656Asn	601007.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601007	LEPTIN RECEPTOR POLYMORPHISM	OMIM	No Domain	N/A	NULL
5621	130912	Disease	p.Arg164Gln	601002.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	31	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg164Gln	601002.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	186	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg164Gln	601002.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	31	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg164Gln	601002.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	186	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg164Gln	601002.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	31	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg164Gln	601002.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	186	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg164Gln	601002.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	31	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg164Gln	601002.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	186	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg164Gln	601002.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	31	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg164Gln	601002.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	186	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg267Trp	601002.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	No Domain	N/A	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg267Trp	601002.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	No Domain	N/A	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg267Trp	601002.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	No Domain	N/A	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg267Trp	601002.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	No Domain	N/A	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg267Trp	601002.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	No Domain	N/A	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg283Cys	601002.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	No Domain	N/A	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg283Cys	601002.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	No Domain	N/A	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg283Cys	601002.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	No Domain	N/A	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg283Cys	601002.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	No Domain	N/A	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg283Cys	601002.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	No Domain	N/A	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg125Cys	601002.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	146	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg125Cys	601002.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	146	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg125Cys	601002.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	146	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg125Cys	601002.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	146	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg125Cys	601002.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY	OMIM	146	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp219Gly	601002.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO	OMIM	97	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp219Gly	601002.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO	OMIM	242	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp219Gly	601002.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO	OMIM	97	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp219Gly	601002.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO	OMIM	242	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp219Gly	601002.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO	OMIM	97	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp219Gly	601002.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO	OMIM	242	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp219Gly	601002.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO	OMIM	97	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp219Gly	601002.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO	OMIM	242	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp219Gly	601002.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO	OMIM	97	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp219Gly	601002.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601002	GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO	OMIM	242	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
4089	13959561	Disease	p.Arg361Cys	600993.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600993	JUVENILE POLYPOSIS SYNDROME||JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME	OMIM	50	cd00050	4885457,NP_005350
4089	13959561	Disease	p.Arg361Cys	600993.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600993	JUVENILE POLYPOSIS SYNDROME||JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME	OMIM	48	pfam03166	4885457,NP_005350
4089	13959561	Disease	p.Arg361Cys	600993.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600993	JUVENILE POLYPOSIS SYNDROME||JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME	OMIM	52	smart00524	4885457,NP_005350
4089	13959561	Disease	p.Gly386Asp	600993.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600993	JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME	OMIM	77	cd00050	4885457,NP_005350
4089	13959561	Disease	p.Gly386Asp	600993.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600993	JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME	OMIM	75	pfam03166	4885457,NP_005350
4089	13959561	Disease	p.Gly386Asp	600993.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600993	JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME	OMIM	79	smart00524	4885457,NP_005350
4089	13959561	Disease	p.Gly352Arg	600993.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600993	JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME	OMIM	37	cd00050	4885457,NP_005350
4089	13959561	Disease	p.Gly352Arg	600993.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600993	JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME	OMIM	33	pfam03166	4885457,NP_005350
4089	13959561	Disease	p.Gly352Arg	600993.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600993	JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME	OMIM	34	smart00524	4885457,NP_005350
7148	20665034	Disease	p.Val1195Met	600985.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600985	EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE	OMIM	No Domain	N/A	NULL
7148	188528648	Disease	p.Val1195Met	600985.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600985	EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE	OMIM	49	pfam00041	NULL
7148	188528648	Disease	p.Val1195Met	600985.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600985	EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE	OMIM	68	smart00060	NULL
4306	260656020	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	877	smart00430	NULL
4306	260656020	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	229	cd06946	NULL
4306	260656020	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	246	cd07068	NULL
4306	260656020	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	216	cd07075	NULL
4306	260656020	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	216	cd06947	NULL
4306	260656020	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	221	cd06930	NULL
4306	260656020	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	323	pfam00104	NULL
4306	260656020	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	217	cd06949	NULL
4306	260656020	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	191	cd07074	NULL
4306	260656020	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	191	cd07073	NULL
4306	260656020	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	223	cd06929	NULL
4306	260656020	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	200	cd06157	NULL
4306	260656020	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	191	cd07076	NULL
4306	158508572	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	50	cd06929	NULL
4306	158508572	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	48	cd06942	NULL
4306	158508572	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	81	cd06931	NULL
4306	158508572	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	116	cd06945	NULL
4306	158508572	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	178	smart00430	NULL
4306	158508572	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	85	cd06949	NULL
4306	158508572	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	74	cd06947	NULL
4306	158508572	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	74	cd07074	NULL
4306	158508572	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	74	cd07076	NULL
4306	158508572	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	74	cd07075	NULL
4306	158508572	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	48	cd06157	NULL
4306	158508572	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	74	cd07073	NULL
4306	158508572	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	112	cd07068	NULL
4306	158508572	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	89	cd06943	NULL
4306	158508572	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	112	cd06946	NULL
4306	158508572	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	78	cd06953	NULL
4306	158508572	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	15	pfam00104	NULL
4306	158508572	Disease	p.Ser810Leu	600983.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY	OMIM	45	cd06930	NULL
4306	260656020	Disease	p.Leu924Pro	600983.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
4306	158508572	Disease	p.Leu924Pro	600983.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	220	cd06929	NULL
4306	158508572	Disease	p.Leu924Pro	600983.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	182	cd06942	NULL
4306	158508572	Disease	p.Leu924Pro	600983.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	217	cd06931	NULL
4306	158508572	Disease	p.Leu924Pro	600983.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	229	cd06945	NULL
4306	158508572	Disease	p.Leu924Pro	600983.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	874	smart00430	NULL
4306	158508572	Disease	p.Leu924Pro	600983.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	214	cd06949	NULL
4306	158508572	Disease	p.Leu924Pro	600983.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	213	cd06947	NULL
4306	158508572	Disease	p.Leu924Pro	600983.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	188	cd07074	NULL
4306	158508572	Disease	p.Leu924Pro	600983.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	188	cd07076	NULL
4306	158508572	Disease	p.Leu924Pro	600983.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	213	cd07075	NULL
4306	158508572	Disease	p.Leu924Pro	600983.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	197	cd06157	NULL
4306	158508572	Disease	p.Leu924Pro	600983.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	188	cd07073	NULL
4306	158508572	Disease	p.Leu924Pro	600983.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	243	cd07068	NULL
4306	158508572	Disease	p.Leu924Pro	600983.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	225	cd06943	NULL
4306	158508572	Disease	p.Leu924Pro	600983.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	226	cd06946	NULL
4306	158508572	Disease	p.Leu924Pro	600983.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	257	cd06953	NULL
4306	158508572	Disease	p.Leu924Pro	600983.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	320	pfam00104	NULL
4306	158508572	Disease	p.Leu924Pro	600983.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	218	cd06930	NULL
4306	260656020	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	786	smart00430	NULL
4306	260656020	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	193	cd06946	NULL
4306	260656020	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	210	cd07068	NULL
4306	260656020	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	182	cd07075	NULL
4306	260656020	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	182	cd06947	NULL
4306	260656020	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	186	cd06930	NULL
4306	260656020	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	249	pfam00104	NULL
4306	260656020	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	183	cd06949	NULL
4306	260656020	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	157	cd07074	NULL
4306	260656020	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	157	cd07073	NULL
4306	260656020	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	169	cd06929	NULL
4306	260656020	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	163	cd06157	NULL
4306	260656020	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	157	cd07076	NULL
4306	158508572	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	14	cd06929	NULL
4306	158508572	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	14	cd06942	NULL
4306	158508572	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	47	cd06931	NULL
4306	158508572	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	82	cd06945	NULL
4306	158508572	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	4	smart00430	NULL
4306	158508572	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	51	cd06949	NULL
4306	158508572	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	40	cd06947	NULL
4306	158508572	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	40	cd07074	NULL
4306	158508572	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	40	cd07076	NULL
4306	158508572	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	40	cd07075	NULL
4306	158508572	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	10	cd06157	NULL
4306	158508572	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	40	cd07073	NULL
4306	158508572	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	78	cd07068	NULL
4306	158508572	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	53	cd06943	NULL
4306	158508572	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	78	cd06946	NULL
4306	158508572	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	41	cd06953	NULL
4306	158508572	Disease	p.Gln776Arg	600983.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	11	cd06930	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	13	cd07075	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	11	cd06947	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	34	cd07161	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	34	cd06962	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	38	cd06968	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	36	cd06967	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	36	cd07173	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	36	cd07171	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	36	cd07166	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	51	cd07160	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	35	cd07172	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	39	cd06970	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	39	cd07168	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	39	cd06955	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	39	cd07169	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	11	cd07074	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	9	cd07073	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	37	cd07170	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	37	cd06964	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	33	cd07157	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	33	cd06966	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	33	pfam00105	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	33	cd06956	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	33	cd06969	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	40	cd07163	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	32	cd07162	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	32	cd06961	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	58	smart00399	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	32	cd06965	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	32	cd06959	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	10_G	cd07076	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd06963	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd06958	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd07179	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd07164	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd07167	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd06957	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd07155	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd07165	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd07156	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd06960	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd06916	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd07158	NULL
4306	260656020	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd07154	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	38	cd06968	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	34	cd07161	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	34	cd06962	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	36	cd07166	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	36	cd06967	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	36	cd07171	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	36	cd07173	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	51	cd07160	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	35	cd07172	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	39	cd07168	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	39	cd07169	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	39	cd06955	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	39	cd06970	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	37	cd07170	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	37	cd06964	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	33	pfam00105	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	33	cd06956	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	33	cd06969	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	33	cd06966	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	33	cd07157	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	40	cd07163	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	32	cd07162	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	32	cd06965	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	58	smart00399	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	32	cd06961	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	32	cd06959	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd06958	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd06963	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd07167	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd07164	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd07155	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd07179	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd06957	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd07165	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd06960	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd07156	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd07158	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd06916	NULL
4306	158508572	Disease	p.Gly633Arg	600983.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	31	cd07154	NULL
4306	260656020	Disease	p.Leu979Pro	600983.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
4306	158508572	Disease	p.Leu979Pro	600983.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	324	cd06947	NULL
4306	158508572	Disease	p.Leu979Pro	600983.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	243	cd07074	NULL
4306	158508572	Disease	p.Leu979Pro	600983.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	242	cd07076	NULL
4306	158508572	Disease	p.Leu979Pro	600983.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	324	cd07075	NULL
4306	158508572	Disease	p.Leu979Pro	600983.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	245	cd07073	NULL
2908	121069	Disease	p.Ser181Leu	600983.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	170	pfam02155	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528642	Disease	p.Ser181Leu	600983.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	170	pfam02155	NULL
2908	121069	Disease	p.Ser181Leu	600983.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	170	pfam02155	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ser181Leu	600983.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	170	pfam02155	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ser181Leu	600983.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	170	pfam02155	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528677	Disease	p.Ser181Leu	600983.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	170	pfam02155	NULL
2908	121069	Disease	p.Ser181Leu	600983.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	170	pfam02155	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Glu972Gly	600983.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528642	Disease	p.Glu972Gly	600983.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
2908	121069	Disease	p.Glu972Gly	600983.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Glu972Gly	600983.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Glu972Gly	600983.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528677	Disease	p.Glu972Gly	600983.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
2908	121069	Disease	p.Glu972Gly	600983.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600983	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
9988	74762040	Disease	p.Met1Val	600980.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600980	HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1	OMIM	No Domain	N/A	215599967,NP_066968|215599992,NP_001135799
9988	74762040	Disease	p.Met1Val	600980.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600980	HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1	OMIM	No Domain	N/A	215599967,NP_066968|215599992,NP_001135799
9988	215599981	Disease	p.Met1Val	600980.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600980	HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1	OMIM	No Domain	N/A	NULL
4646	92859701	Disease	p.Cys442Tyr	600970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL DOMINANT 22	OMIM	357	cd01383	NULL
4646	92859701	Disease	p.Cys442Tyr	600970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL DOMINANT 22	OMIM	366	cd01385	NULL
4646	92859701	Disease	p.Cys442Tyr	600970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL DOMINANT 22	OMIM	358	cd01387	NULL
4646	92859701	Disease	p.Cys442Tyr	600970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL DOMINANT 22	OMIM	396	cd01384	NULL
4646	92859701	Disease	p.Cys442Tyr	600970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL DOMINANT 22	OMIM	362	cd01379	NULL
4646	92859701	Disease	p.Cys442Tyr	600970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL DOMINANT 22	OMIM	377	cd01386	NULL
4646	92859701	Disease	p.Cys442Tyr	600970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL DOMINANT 22	OMIM	407	cd01380	NULL
4646	92859701	Disease	p.Cys442Tyr	600970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL DOMINANT 22	OMIM	355	cd01381	NULL
4646	92859701	Disease	p.Cys442Tyr	600970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL DOMINANT 22	OMIM	536	cd00124	NULL
4646	92859701	Disease	p.Cys442Tyr	600970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL DOMINANT 22	OMIM	652	smart00242	NULL
4646	92859701	Disease	p.Cys442Tyr	600970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL DOMINANT 22	OMIM	496	pfam00063	NULL
4646	92859701	Disease	p.Cys442Tyr	600970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL DOMINANT 22	OMIM	515	cd01378	NULL
4646	92859701	Disease	p.Cys442Tyr	600970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL DOMINANT 22	OMIM	433	cd01377	NULL
4646	92859701	Disease	p.Cys442Tyr	600970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL DOMINANT 22	OMIM	472	COG5022	NULL
4646	92859701	Disease	p.Cys442Tyr	600970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL DOMINANT 22	OMIM	431	cd01363	NULL
4646	92859701	Disease	p.Cys442Tyr	600970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL DOMINANT 22	OMIM	450	cd01382	NULL
4646	92859701	Disease	p.Glu216Val	600970.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL RECESSIVE 37	OMIM	164	cd01383	NULL
4646	92859701	Disease	p.Glu216Val	600970.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL RECESSIVE 37	OMIM	169	cd01385	NULL
4646	92859701	Disease	p.Glu216Val	600970.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL RECESSIVE 37	OMIM	163	cd01387	NULL
4646	92859701	Disease	p.Glu216Val	600970.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL RECESSIVE 37	OMIM	194	cd01384	NULL
4646	92859701	Disease	p.Glu216Val	600970.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL RECESSIVE 37	OMIM	159	cd01379	NULL
4646	92859701	Disease	p.Glu216Val	600970.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL RECESSIVE 37	OMIM	166	cd01386	NULL
4646	92859701	Disease	p.Glu216Val	600970.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL RECESSIVE 37	OMIM	201	cd01380	NULL
4646	92859701	Disease	p.Glu216Val	600970.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL RECESSIVE 37	OMIM	158	cd01381	NULL
4646	92859701	Disease	p.Glu216Val	600970.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL RECESSIVE 37	OMIM	250	cd00124	NULL
4646	92859701	Disease	p.Glu216Val	600970.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL RECESSIVE 37	OMIM	327	smart00242	NULL
4646	92859701	Disease	p.Glu216Val	600970.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL RECESSIVE 37	OMIM	225	pfam00063	NULL
4646	92859701	Disease	p.Glu216Val	600970.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL RECESSIVE 37	OMIM	304	cd01378	NULL
4646	92859701	Disease	p.Glu216Val	600970.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL RECESSIVE 37	OMIM	222	cd01377	NULL
4646	92859701	Disease	p.Glu216Val	600970.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL RECESSIVE 37	OMIM	274	COG5022	NULL
4646	92859701	Disease	p.Glu216Val	600970.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL RECESSIVE 37	OMIM	239	cd01363	NULL
4646	92859701	Disease	p.Glu216Val	600970.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, AUTOSOMAL RECESSIVE 37	OMIM	182	cd01382	NULL
4646	92859701	Disease	p.His246Arg	600970.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY	OMIM	194	cd01383	NULL
4646	92859701	Disease	p.His246Arg	600970.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY	OMIM	199	cd01385	NULL
4646	92859701	Disease	p.His246Arg	600970.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY	OMIM	193	cd01387	NULL
4646	92859701	Disease	p.His246Arg	600970.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY	OMIM	224	cd01384	NULL
4646	92859701	Disease	p.His246Arg	600970.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY	OMIM	189	cd01379	NULL
4646	92859701	Disease	p.His246Arg	600970.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY	OMIM	196	cd01386	NULL
4646	92859701	Disease	p.His246Arg	600970.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY	OMIM	234	cd01380	NULL
4646	92859701	Disease	p.His246Arg	600970.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY	OMIM	188	cd01381	NULL
4646	92859701	Disease	p.His246Arg	600970.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY	OMIM	292	cd00124	NULL
4646	92859701	Disease	p.His246Arg	600970.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY	OMIM	364	smart00242	NULL
4646	92859701	Disease	p.His246Arg	600970.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY	OMIM	262	pfam00063	NULL
4646	92859701	Disease	p.His246Arg	600970.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY	OMIM	334	cd01378	NULL
4646	92859701	Disease	p.His246Arg	600970.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY	OMIM	253	cd01377	NULL
4646	92859701	Disease	p.His246Arg	600970.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY	OMIM	304	COG5022	NULL
4646	92859701	Disease	p.His246Arg	600970.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY	OMIM	269	cd01363	NULL
4646	92859701	Disease	p.His246Arg	600970.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600970	DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY	OMIM	212	cd01382	NULL
6559	186910317	Disease	p.Leu850Pro	600968.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	No Domain	N/A	NULL
6559	186910315	Disease	p.Leu850Pro	600968.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	No Domain	N/A	NULL
6559	223634707	Disease	p.Leu850Pro	600968.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	No Domain	N/A	186910319,NP_001119580
6559	186910317	Disease	p.Cys421Arg	600968.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	609	COG0531	NULL
6559	186910317	Disease	p.Cys421Arg	600968.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	356	pfam00324	NULL
6559	186910315	Disease	p.Cys421Arg	600968.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	355	pfam00324	NULL
6559	186910315	Disease	p.Cys421Arg	600968.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	608	COG0531	NULL
6559	223634707	Disease	p.Cys421Arg	600968.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	No Domain	N/A	186910319,NP_001119580
6559	186910317	Disease	p.Arg209Trp	600968.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	115	COG0531	NULL
6559	186910317	Disease	p.Arg209Trp	600968.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	79	pfam00324	NULL
6559	186910315	Disease	p.Arg209Trp	600968.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	78	pfam00324	NULL
6559	186910315	Disease	p.Arg209Trp	600968.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	114	COG0531	NULL
6559	223634707	Disease	p.Arg209Trp	600968.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	No Domain	N/A	186910319,NP_001119580
6559	186910317	Disease	p.Arg655His	600968.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	No Domain	N/A	NULL
6559	186910315	Disease	p.Arg655His	600968.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	No Domain	N/A	NULL
6559	223634707	Disease	p.Arg655His	600968.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	No Domain	N/A	186910319,NP_001119580
6559	186910317	Disease	p.Arg653Leu	600968.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	No Domain	N/A	NULL
6559	186910315	Disease	p.Arg653Leu	600968.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	No Domain	N/A	NULL
6559	223634707	Disease	p.Arg653Leu	600968.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	No Domain	N/A	186910319,NP_001119580
6559	186910317	Disease	p.Ala588Val	600968.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	983	COG0531	NULL
6559	186910317	Disease	p.Ala588Val	600968.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	535	pfam00324	NULL
6559	186910315	Disease	p.Ala588Val	600968.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	534	pfam00324	NULL
6559	186910315	Disease	p.Ala588Val	600968.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	982	COG0531	NULL
6559	223634707	Disease	p.Ala588Val	600968.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	No Domain	N/A	186910319,NP_001119580
6559	186910317	Disease	p.Pro349Leu	600968.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	481	COG0531	NULL
6559	186910317	Disease	p.Pro349Leu	600968.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	263	pfam00324	NULL
6559	186910315	Disease	p.Pro349Leu	600968.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	262	pfam00324	NULL
6559	186910315	Disease	p.Pro349Leu	600968.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	480	COG0531	NULL
6559	223634707	Disease	p.Pro349Leu	600968.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	No Domain	N/A	186910319,NP_001119580
6559	186910317	Disease	p.Gly630Val	600968.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	583	pfam00324	NULL
6559	186910315	Disease	p.Gly630Val	600968.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	582	pfam00324	NULL
6559	223634707	Disease	p.Gly630Val	600968.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	No Domain	N/A	186910319,NP_001119580
6559	186910317	Disease	p.Leu623Pro	600968.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	1024	COG0531	NULL
6559	186910317	Disease	p.Leu623Pro	600968.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	576	pfam00324	NULL
6559	186910315	Disease	p.Leu623Pro	600968.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	575	pfam00324	NULL
6559	186910315	Disease	p.Leu623Pro	600968.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	1023	COG0531	NULL
6559	223634707	Disease	p.Leu623Pro	600968.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	No Domain	N/A	186910319,NP_001119580
6559	186910317	Disease	p.Thr163Met	600968.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	51	COG0531	NULL
6559	186910317	Disease	p.Thr163Met	600968.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	26	pfam00324	NULL
6559	186910315	Disease	p.Thr163Met	600968.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	25	pfam00324	NULL
6559	186910315	Disease	p.Thr163Met	600968.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	50	COG0531	NULL
6559	223634707	Disease	p.Thr163Met	600968.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600968	GITELMAN SYNDROME	OMIM	No Domain	N/A	186910319,NP_001119580
147912	40354216	Disease	p.Ala158Thr	600963.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600963	BRANCHIOOTORENAL SYNDROME 2	OMIM	No Domain	N/A	NULL
147912	40354216	Disease	p.Ala296Thr	600963.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600963	BRANCHIOOTORENAL SYNDROME 2	OMIM	No Domain	N/A	NULL
147912	40354216	Disease	p.Gly365Arg	600963.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600963	BRANCHIOOTORENAL SYNDROME 2	OMIM	No Domain	N/A	NULL
147912	40354216	Disease	p.Thr552Met	600963.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600963	BRANCHIOOTORENAL SYNDROME 2	OMIM	No Domain	N/A	NULL
4607	148596957	Disease	p.Glu542Gln	600958.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600958	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4	OMIM	243	smart00409	NULL
4607	148596957	Disease	p.Glu542Gln	600958.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600958	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4	OMIM	243	smart00410	NULL
4607	148596957	Disease	p.Thr59Ala	600958.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600958	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4	OMIM	67	pfam07679	NULL
4607	148596957	Disease	p.Asn948Thr	600958.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600958	CARDIOMYOPATHY, DILATED	OMIM	183	smart00060	NULL
4607	148596957	Disease	p.Asn948Thr	600958.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600958	CARDIOMYOPATHY, DILATED	OMIM	163	cd00063	NULL
4607	148596957	Disease	p.Asn948Thr	600958.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600958	CARDIOMYOPATHY, DILATED	OMIM	107	pfam00041	NULL
4607	148596957	Disease	p.Arg820Gln	600958.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600958	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4	OMIM	97	cd00063	NULL
4607	148596957	Disease	p.Arg820Gln	600958.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600958	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4	OMIM	116	smart00060	NULL
4607	148596957	Disease	p.Arg820Gln	600958.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600958	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4	OMIM	67	pfam00041	NULL
4607	148596957	Disease	p.Val1125Met	600958.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600958	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4	OMIM	159	smart00060	NULL
4607	148596957	Disease	p.Val1125Met	600958.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600958	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4	OMIM	138	cd00063	NULL
4607	148596957	Disease	p.Val1125Met	600958.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600958	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4	OMIM	87	pfam00041	NULL
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	218_G	cd07841	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	418_G	cd00192	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	218	cd08529	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	189	cd06625	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	198	cd05044	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	177	cd05041	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	244	cd08215	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	188_G	cd08530	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	206_G	cd06632	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	226	cd06626	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	203	cd05036	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	217	cd05038	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	225_G	cd05033	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	245	cd05032	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	188_G	cd05068	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	178_G	cd05082	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	179	cd05039	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	431_G	cd05581	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	236_G	cd07829	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	192	cd05118	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	186_G	cd08224	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	176	cd05083	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	233_G	cd06614	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	190_G	cd05080	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	834	smart00221	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	562	smart00219	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	331	pfam00069	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	377_G	pfam07714	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	216_G	cd05099	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	761	smart00220	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	238	cd06623	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	180	cd05112	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	190	cd05081	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	183	cd05073	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	182	cd05067	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	193_G	cd05034	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	182	cd05069	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	185	cd05148	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	183	cd05072	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	224	cd06627	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	225_G	cd05122	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	203_G	cd07832	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	325	cd06606	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	791	cd05123	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	181_G	cd05577	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	664	cd00180	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	209	cd05049	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	196_G	cd06624	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	219_G	cd05056	10198656,NP_065434
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	176	cd05083	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	834	smart00221	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	377_G	pfam07714	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	331	pfam00069	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	562	smart00219	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	233_G	cd06614	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	218	cd08529	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	285	cd08215	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	227	cd08530	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	206_G	cd06632	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	177	cd05041	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	418_G	cd00192	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	761	smart00220	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	217	cd05038	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	190	cd05081	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	234	cd05034	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	259	cd05148	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	218	cd07832	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	358	cd06606	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	263	cd06627	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	301	cd05122	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	179	cd05039	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	264	cd05118	NULL
269	257743467	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	664	cd00180	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	206	cd05083	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	229	cd05080	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	860	smart00221	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	696	smart00219	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	478	pfam07714	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	468	pfam00069	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	318	cd06614	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	332	cd07841	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	255	cd05060	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	332	cd08215	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	248	cd05041	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	269	cd05044	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	265	cd05040	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	277	cd06632	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	519	cd00192	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	1182	smart00220	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	269	cd05038	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	297	cd05043	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	274	cd05036	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	295	cd05033	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	225	cd05081	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	289	cd05148	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	266	cd05034	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	253	cd05059	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	308	cd07832	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	347_G	cd05122	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	260	cd05039	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	320	cd05032	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	357_G	cd07829	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	303_G	cd05118	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	868	cd00180	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	279	cd05048	NULL
269	257743470	Disease	p.Arg406Gln	600956.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600956	PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II	OMIM	294	cd05049	NULL
15	262231744	Disease	p.Ala129Thr	600950.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600950	DELAYED SLEEP PHASE SYNDROME, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
15	11387096	Disease	p.Ala129Thr	600950.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600950	DELAYED SLEEP PHASE SYNDROME, SUSCEPTIBILITY TO	OMIM	85	pfam00583	4501845,NP_001079
2690	4503993	Disease	p.Phe96Ser	600946.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946	LARON SYNDROME	OMIM	52	pfam09067	NULL
2690	4503993	Disease	p.Glu44Lys	600946.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946	SHORT STATURE, IDIOPATHIC, AUTOSOMAL	OMIM	No Domain	N/A	NULL
2690	4503993	Disease	p.Arg161Cys	600946.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946	SHORT STATURE, IDIOPATHIC, AUTOSOMAL	OMIM	16	smart00060	NULL
2690	4503993	Disease	p.Arg161Cys	600946.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946	SHORT STATURE, IDIOPATHIC, AUTOSOMAL	OMIM	17	cd00063	NULL
2690	4503993	Disease	p.Glu224Asp	600946.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946	SHORT STATURE, IDIOPATHIC, AUTOSOMAL	OMIM	173	smart00060	NULL
2690	4503993	Disease	p.Glu224Asp	600946.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946	SHORT STATURE, IDIOPATHIC, AUTOSOMAL	OMIM	153	cd00063	NULL
2690	4503993	Disease	p.Pro131Gln	600946.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946	LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN	OMIM	96	pfam09067	NULL
2690	4503993	Disease	p.Val144Ile	600946.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946	SHORT STATURE, IDIOPATHIC, AUTOSOMAL	OMIM	No Domain	N/A	NULL
2690	4503993	Disease	p.Asp152His	600946.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946	LARON SYNDROME	OMIM	4	smart00060	NULL
2690	4503993	Disease	p.Asp152His	600946.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946	LARON SYNDROME	OMIM	5	cd00063	NULL
2690	4503993	Disease	p.Ile153Thr	600946.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946	LARON SYNDROME	OMIM	5	smart00060	NULL
2690	4503993	Disease	p.Ile153Thr	600946.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946	LARON SYNDROME	OMIM	6	cd00063	NULL
2690	4503993	Disease	p.Gln154Pro	600946.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946	LARON SYNDROME	OMIM	6	smart00060	NULL
2690	4503993	Disease	p.Gln154Pro	600946.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946	LARON SYNDROME	OMIM	7	cd00063	NULL
2690	4503993	Disease	p.Val155Gly	600946.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946	LARON SYNDROME	OMIM	10	smart00060	NULL
2690	4503993	Disease	p.Val155Gly	600946.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946	LARON SYNDROME	OMIM	8	cd00063	NULL
2690	4503993	Disease	p.Leu526Ile	600946.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946	HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFICATION OF	OMIM	No Domain	N/A	NULL
2690	4503993	Disease	p.Cys94Ser	600946.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946	LARON SYNDROME	OMIM	51_G	pfam09067	NULL
2690	4503993	Disease	p.His150Gln	600946.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946	LARON SYNDROME	OMIM	2	smart00060	NULL
2690	4503993	Disease	p.His150Gln	600946.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600946	LARON SYNDROME	OMIM	2	cd00063	NULL
3767	62388888	Disease	p.Leu147Pro	600937.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2	OMIM	137	pfam01007	NULL
3767	261399884	Disease	p.Leu147Pro	600937.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2	OMIM	224	pfam01007	NULL
3767	62388888	Disease	p.Arg201His	600937.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, PERMANENT NEONATAL||DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES||DIABETES MELLITUS, TRANSIENT NEONATAL, 3	OMIM	191	pfam01007	NULL
3767	261399884	Disease	p.Arg201His	600937.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, PERMANENT NEONATAL||DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES||DIABETES MELLITUS, TRANSIENT NEONATAL, 3	OMIM	279	pfam01007	NULL
3767	62388888	Disease	p.Val59Met	600937.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES||DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	26	pfam01007	NULL
3767	261399884	Disease	p.Val59Met	600937.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES||DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	136	pfam01007	NULL
3767	62388888	Disease	p.Arg201Cys	600937.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, PERMANENT NEONATAL||DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES	OMIM	191	pfam01007	NULL
3767	261399884	Disease	p.Arg201Cys	600937.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, PERMANENT NEONATAL||DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES	OMIM	279	pfam01007	NULL
3767	62388888	Disease	p.Val59Gly	600937.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES	OMIM	26	pfam01007	NULL
3767	261399884	Disease	p.Val59Gly	600937.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES	OMIM	136	pfam01007	NULL
3767	62388888	Disease	p.Arg50Pro	600937.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	15	pfam01007	NULL
3767	261399884	Disease	p.Arg50Pro	600937.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	127	pfam01007	NULL
3767	62388888	Disease	p.Lys170Arg	600937.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	160	pfam01007	NULL
3767	261399884	Disease	p.Lys170Arg	600937.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	248	pfam01007	NULL
3767	62388888	Disease	p.Lys170Asn	600937.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	160	pfam01007	NULL
3767	261399884	Disease	p.Lys170Asn	600937.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	248	pfam01007	NULL
3767	62388888	Disease	p.Pro254Leu	600937.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2	OMIM	245	pfam01007	NULL
3767	261399884	Disease	p.Pro254Leu	600937.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2	OMIM	338	pfam01007	NULL
3767	62388888	Disease	p.Cys42Arg	600937.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, TRANSIENT NEONATAL, 3||DIABETES MELLITUS, TYPE II, AUTOSOMAL DOMINANT	OMIM	7	pfam01007	NULL
3767	261399884	Disease	p.Cys42Arg	600937.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, TRANSIENT NEONATAL, 3||DIABETES MELLITUS, TYPE II, AUTOSOMAL DOMINANT	OMIM	119	pfam01007	NULL
3767	62388888	Disease	p.His259Arg	600937.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2	OMIM	250	pfam01007	NULL
3767	261399884	Disease	p.His259Arg	600937.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2	OMIM	343	pfam01007	NULL
3767	62388888	Disease	p.Glu23Lys	600937.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO||EXERCISE STRESS RESPONSE, IMPAIRED, ASSOCIATION WITH	OMIM	No Domain	N/A	NULL
3767	261399884	Disease	p.Glu23Lys	600937.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO||EXERCISE STRESS RESPONSE, IMPAIRED, ASSOCIATION WITH	OMIM	100	pfam01007	NULL
3767	62388888	Disease	p.Cys166Phe	600937.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES	OMIM	156	pfam01007	NULL
3767	261399884	Disease	p.Cys166Phe	600937.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES	OMIM	244	pfam01007	NULL
3767	62388888	Disease	p.Ile167Leu	600937.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES	OMIM	157	pfam01007	NULL
3767	261399884	Disease	p.Ile167Leu	600937.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES	OMIM	245	pfam01007	NULL
3767	62388888	Disease	p.Gly53Ser	600937.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, TRANSIENT NEONATAL, 3	OMIM	20	pfam01007	NULL
3767	261399884	Disease	p.Gly53Ser	600937.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, TRANSIENT NEONATAL, 3	OMIM	130	pfam01007	NULL
3767	62388888	Disease	p.Gly53Arg	600937.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, TRANSIENT NEONATAL, 3	OMIM	20	pfam01007	NULL
3767	261399884	Disease	p.Gly53Arg	600937.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, TRANSIENT NEONATAL, 3	OMIM	130	pfam01007	NULL
3767	62388888	Disease	p.Arg301His	600937.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2	OMIM	292	pfam01007	NULL
3767	261399884	Disease	p.Arg301His	600937.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2	OMIM	No Domain	N/A	NULL
3767	62388888	Disease	p.Gly156Arg	600937.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2	OMIM	146	pfam01007	NULL
3767	261399884	Disease	p.Gly156Arg	600937.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2	OMIM	233	pfam01007	NULL
3767	62388888	Disease	p.Gly53Asp	600937.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES	OMIM	20	pfam01007	NULL
3767	261399884	Disease	p.Gly53Asp	600937.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES	OMIM	130	pfam01007	NULL
3767	62388888	Disease	p.Glu282Lys	600937.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2	OMIM	273	pfam01007	NULL
3767	261399884	Disease	p.Glu282Lys	600937.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600937	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2	OMIM	No Domain	N/A	NULL
2671	218511915	Disease	p.Arg194His	600924.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600924	MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY	OMIM	163	pfam04777	54112432,NP_005253
2671	218511915	Disease	p.Arg194His	600924.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600924	MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY	OMIM	183	COG5054	54112432,NP_005253
3060	6225800	Disease	p.Gly232Arg	600923.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600923	VARIEGATE PORPHYRIA	OMIM	No Domain	N/A	4557635,NP_001515
3060	6225800	Disease	p.Arg59Trp	600923.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600923	VARIEGATE PORPHYRIA	OMIM	59	pfam02072	4557635,NP_001515
3060	6225800	Disease	p.Arg168Cys	600923.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600923	VARIEGATE PORPHYRIA	OMIM	No Domain	N/A	4557635,NP_001515
3060	6225800	Disease	p.His20Pro	600923.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600923	VARIEGATE PORPHYRIA	OMIM	20	pfam02072	4557635,NP_001515
3060	6225800	Disease	p.Arg168His	600923.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600923	VARIEGATE PORPHYRIA	OMIM	No Domain	N/A	4557635,NP_001515
3060	6225800	Disease	p.Asp349Ala	600923.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600923	VARIEGATE PORPHYRIA, HOMOZYGOUS	OMIM	No Domain	N/A	4557635,NP_001515
3060	6225800	Disease	p.Ile12Thr	600923.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600923	VARIEGATE PORPHYRIA, HOMOZYGOUS	OMIM	12	pfam02072	4557635,NP_001515
3060	6225800	Disease	p.Pro256Arg	600923.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600923	VARIEGATE PORPHYRIA, HOMOZYGOUS	OMIM	No Domain	N/A	4557635,NP_001515
2254	544290	Disease	p.Ser99Asn	600921.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600921	MULTIPLE SYNOSTOSES SYNDROME 3	OMIM	60	smart00442	4503707,NP_002001
2254	544290	Disease	p.Ser99Asn	600921.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600921	MULTIPLE SYNOSTOSES SYNDROME 3	OMIM	50	cd00058	4503707,NP_002001
2254	544290	Disease	p.Ser99Asn	600921.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600921	MULTIPLE SYNOSTOSES SYNDROME 3	OMIM	57	pfam00167	4503707,NP_002001
5506	298286906	Disease	p.Asp905Tyr	600917.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600917	INSULIN RESISTANCE, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	167614502,NP_002702
6443	13431857	Disease	p.Thr151Arg	600900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600900	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E	OMIM	117	pfam04790	4506913,NP_000223
6443	13431857	Disease	p.Arg91Pro	600900.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600900	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E	OMIM	40	pfam04790	4506913,NP_000223
6443	13431857	Disease	p.Leu108Arg	600900.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600900	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E	OMIM	58	pfam04790	4506913,NP_000223
6443	13431857	Disease	p.Met100Lys	600900.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600900	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E	OMIM	49	pfam04790	4506913,NP_000223
6443	13431857	Disease	p.Arg91Leu	600900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600900	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E	OMIM	40	pfam04790	4506913,NP_000223
2703	13124697	Disease	p.Pro88Ser	600897.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600897	CATARACT, ZONULAR PULVERULENT 1	OMIM	87	pfam00029	55953076,NP_005258
2703	13124697	Disease	p.Glu48Lys	600897.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600897	CATARACT, ZONULAR PULVERULENT 1	OMIM	47	pfam00029	55953076,NP_005258
2703	13124697	Disease	p.Glu48Lys	600897.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600897	CATARACT, ZONULAR PULVERULENT 1	OMIM	6	smart00037	55953076,NP_005258
2703	13124697	Disease	p.Ile247Met	600897.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600897	CATARACT, ZONULAR PULVERULENT 1	OMIM	No Domain	N/A	55953076,NP_005258
2703	13124697	Disease	p.Arg23Thr	600897.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600897	CATARACT, NUCLEAR PROGRESSIVE	OMIM	22	pfam00029	55953076,NP_005258
2703	13124697	Disease	p.Val44Glu	600897.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600897	CATARACT-MICROCORNEA SYNDROME	OMIM	43	pfam00029	55953076,NP_005258
2703	13124697	Disease	p.Val44Glu	600897.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600897	CATARACT-MICROCORNEA SYNDROME	OMIM	2	smart00037	55953076,NP_005258
2703	13124697	Disease	p.Arg198Gln	600897.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600897	CATARACT-MICROCORNEA SYNDROME	OMIM	45	pfam10582	55953076,NP_005258
2703	13124697	Disease	p.Asp47Asn	600897.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600897	CATARACT, NUCLEAR PULVERULENT	OMIM	46	pfam00029	55953076,NP_005258
2703	13124697	Disease	p.Asp47Asn	600897.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600897	CATARACT, NUCLEAR PULVERULENT	OMIM	5	smart00037	55953076,NP_005258
3030	20141376	Disease	p.Glu510Gln	600890.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600890	LCHAD DEFICIENCY||LCHAD DEFICIENCY WITH MATERNAL ACUTE FATTY LIVER OF PREGNANCY	OMIM	174	pfam02737	20127408,NP_000173
3030	20141376	Disease	p.Glu510Gln	600890.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600890	LCHAD DEFICIENCY||LCHAD DEFICIENCY WITH MATERNAL ACUTE FATTY LIVER OF PREGNANCY	OMIM	196	COG1250	20127408,NP_000173
3030	20141376	Disease	p.Leu342Pro	600890.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600890	LCHAD DEFICIENCY	OMIM	423	COG1024	20127408,NP_000173
3030	20141376	Disease	p.Val246Asp	600890.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600890	TRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY	OMIM	309	COG1024	20127408,NP_000173
3030	20141376	Disease	p.Val246Asp	600890.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600890	TRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY	OMIM	378	cd06558	20127408,NP_000173
3030	20141376	Disease	p.Ile269Asn	600890.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600890	TRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY	OMIM	332	COG1024	20127408,NP_000173
2672	33860154	Disease	p.Asn382Ser	600871.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600871	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 2	OMIM	24	smart00355	187761351,NP_001120688|187761349,NP_001120687|71037377,NP_005254
2672	33860154	Disease	p.Asn382Ser	600871.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600871	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 2	OMIM	24	pfam00096	187761351,NP_001120688|187761349,NP_001120687|71037377,NP_005254
2672	33860154	Disease	p.Asn382Ser	600871.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600871	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 2	OMIM	24	smart00355	187761351,NP_001120688|187761349,NP_001120687|71037377,NP_005254
2672	33860154	Disease	p.Asn382Ser	600871.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600871	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 2	OMIM	24	pfam00096	187761351,NP_001120688|187761349,NP_001120687|71037377,NP_005254
2672	33860154	Disease	p.Asn382Ser	600871.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600871	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 2	OMIM	24	smart00355	187761351,NP_001120688|187761349,NP_001120687|71037377,NP_005254
2672	33860154	Disease	p.Asn382Ser	600871.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600871	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 2	OMIM	24	pfam00096	187761351,NP_001120688|187761349,NP_001120687|71037377,NP_005254
2672	33860154	Disease	p.Lys403Arg	600871.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600871	NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS	OMIM	17	smart00355	187761351,NP_001120688|187761349,NP_001120687|71037377,NP_005254
2672	33860154	Disease	p.Lys403Arg	600871.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600871	NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS	OMIM	14	pfam00096	187761351,NP_001120688|187761349,NP_001120687|71037377,NP_005254
2672	33860154	Disease	p.Lys403Arg	600871.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600871	NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS	OMIM	17	smart00355	187761351,NP_001120688|187761349,NP_001120687|71037377,NP_005254
2672	33860154	Disease	p.Lys403Arg	600871.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600871	NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS	OMIM	14	pfam00096	187761351,NP_001120688|187761349,NP_001120687|71037377,NP_005254
2672	33860154	Disease	p.Lys403Arg	600871.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600871	NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS	OMIM	17	smart00355	187761351,NP_001120688|187761349,NP_001120687|71037377,NP_005254
2672	33860154	Disease	p.Lys403Arg	600871.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600871	NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS	OMIM	14	pfam00096	187761351,NP_001120688|187761349,NP_001120687|71037377,NP_005254
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	37	cd06625	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	40	cd05112	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	59	cd07855	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	47	cd05038	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	89	cd05580	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	42	cd05069	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	43	cd05034	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	42	cd05067	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	42	cd05073	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	88	cd05581	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	42	cd05612	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	38	cd07847	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	41_G	cd06623	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	43	cd08228	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	42	cd05071	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	43	cd08229	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	38	cd07837	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	45_G	cd06609	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	67	cd05573	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	204	COG0515	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	44	cd05148	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	67	cd07830	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	67	pfam07714	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	47	pfam00069	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	135	smart00219	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	58	cd07840	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	33_G	cd07829	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	38	cd05118	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	42	cd07835	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	55	cd07831	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	173	smart00221	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	33_G	cd07838	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	39	cd06629	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	62	cd06614	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	37	cd05123	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	70	cd00180	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	77	cd05572	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	37	cd05115	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	39	cd06630	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	39	cd06627	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	50	cd06606	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	66	cd07834	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	39	cd07832	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	57	cd05122	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	59	cd08215	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	37	cd06632	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	39	cd06626	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	41	cd08220	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	35_G	cd05578	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	37	cd07841	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	37	cd06628	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	45	cd08528	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	38	cd05605	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	55	cd07851	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	42	cd05068	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	38_G	cd07845	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	44	cd05052	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	37_G	cd07843	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	47	cd07864	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	94	smart00220	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	79	cd00192	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	35	cd05593	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	34	cd05116	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	34	cd05060	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	31	cd05085	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	31	cd05084	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	31	cd05041	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	34	cd05040	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	40	cd06613	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	42	cd05070	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	47	cd06612	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	48	cd05080	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	46	cd07866	20149530,NP_001884
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	37	cd06625	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	40	cd05112	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	59	cd07855	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	47	cd05038	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	89	cd05580	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	42	cd05069	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	43	cd05034	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	42	cd05067	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	42	cd05073	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	88	cd05581	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	42	cd05612	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	38	cd07847	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	41_G	cd06623	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	43	cd08228	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	42	cd05071	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	43	cd08229	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	38	cd07837	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	45_G	cd06609	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	67	cd05573	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	204	COG0515	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	44	cd05148	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	67	cd07830	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	67	pfam07714	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	47	pfam00069	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	135	smart00219	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	58	cd07840	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	33_G	cd07829	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	38	cd05118	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	42	cd07835	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	55	cd07831	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	173	smart00221	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	33_G	cd07838	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	39	cd06629	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	62	cd06614	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	37	cd05123	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	70	cd00180	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	77	cd05572	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	37	cd05115	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	39	cd06630	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	39	cd06627	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	50	cd06606	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	66	cd07834	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	39	cd07832	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	57	cd05122	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	59	cd08215	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	37	cd06632	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	39	cd06626	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	41	cd08220	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	35_G	cd05578	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	37	cd07841	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	37	cd06628	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	45	cd08528	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	38	cd05605	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	55	cd07851	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	42	cd05068	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	38_G	cd07845	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	44	cd05052	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	37_G	cd07843	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	47	cd07864	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	94	smart00220	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	79	cd00192	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	35	cd05593	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	34	cd05116	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	34	cd05060	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	31	cd05085	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	31	cd05084	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	31	cd05041	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	34	cd05040	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	40	cd06613	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	42	cd05070	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	47	cd06612	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	48	cd05080	NULL
1453	20544145	Disease	p.Thr44Ala	600864.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600864	FAMILIAL ADVANCED SLEEP-PHASE SYNDROME	OMIM	46	cd07866	NULL
6389	1169337	Disease	p.Arg554Trp	600857.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600857	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY	OMIM	57	pfam02910	156416003,NP_004159
6389	1169337	Disease	p.Arg554Trp	600857.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600857	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY	OMIM	525	COG0029	156416003,NP_004159
6389	1169337	Disease	p.Arg554Trp	600857.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600857	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY	OMIM	762	COG1053	156416003,NP_004159
6389	1169337	Disease	p.Ala524Val	600857.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600857	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY	OMIM	13	pfam02910	156416003,NP_004159
6389	1169337	Disease	p.Ala524Val	600857.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600857	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY	OMIM	489	COG0029	156416003,NP_004159
6389	1169337	Disease	p.Ala524Val	600857.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600857	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY	OMIM	726	COG1053	156416003,NP_004159
6389	1169337	Disease	p.Met1Leu	600857.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600857	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY	OMIM	No Domain	N/A	156416003,NP_004159
6389	1169337	Disease	p.Gly555Glu	600857.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600857	MITOCHONDRIAL COMPLEX II DEFICIENCY||LEIGH SYNDROME||CARDIOMYOPATHY, DILATED, 1GG	OMIM	58	pfam02910	156416003,NP_004159
6389	1169337	Disease	p.Gly555Glu	600857.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600857	MITOCHONDRIAL COMPLEX II DEFICIENCY||LEIGH SYNDROME||CARDIOMYOPATHY, DILATED, 1GG	OMIM	526	COG0029	156416003,NP_004159
6389	1169337	Disease	p.Gly555Glu	600857.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600857	MITOCHONDRIAL COMPLEX II DEFICIENCY||LEIGH SYNDROME||CARDIOMYOPATHY, DILATED, 1GG	OMIM	763	COG1053	156416003,NP_004159
11183	38570135	Disease	p.Pro446Leu	600842.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600842	FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5	OMIM	1402	COG0515	NULL
11183	14589909	Disease	p.Pro446Leu	600842.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600842	FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5	OMIM	1402	COG0515	NULL
6557	212276464	Disease	p.Asp648Asn	600839.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600839	BARTTER SYNDROME, ANTENATAL, TYPE 1	OMIM	561	pfam00324	134254459,NP_000329
6557	212276464	Disease	p.Asp648Asn	600839.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600839	BARTTER SYNDROME, ANTENATAL, TYPE 1	OMIM	1009	COG0531	134254459,NP_000329
6557	296317278	Disease	p.Asp648Asn	600839.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600839	BARTTER SYNDROME, ANTENATAL, TYPE 1	OMIM	561	pfam00324	NULL
6557	296317278	Disease	p.Asp648Asn	600839.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600839	BARTTER SYNDROME, ANTENATAL, TYPE 1	OMIM	1009	COG0531	NULL
6557	212276464	Disease	p.Val272Phe	600839.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600839	BARTTER SYNDROME, ANTENATAL, TYPE 1	OMIM	113	pfam00324	134254459,NP_000329
6557	212276464	Disease	p.Val272Phe	600839.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600839	BARTTER SYNDROME, ANTENATAL, TYPE 1	OMIM	204	COG0531	134254459,NP_000329
6557	296317278	Disease	p.Val272Phe	600839.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600839	BARTTER SYNDROME, ANTENATAL, TYPE 1	OMIM	113	pfam00324	NULL
6557	296317278	Disease	p.Val272Phe	600839.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600839	BARTTER SYNDROME, ANTENATAL, TYPE 1	OMIM	204	COG0531	NULL
2668	729567	Disease	p.Asp150Asn	600837.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600837	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3	OMIM	39	pfam00019	4503975,NP_000505
2668	40549411	Disease	p.Asp150Asn	600837.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600837	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3	OMIM	74	pfam00019	NULL
2668	299473779	Disease	p.Asp150Asn	600837.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600837	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3	OMIM	20	pfam00019	NULL
2668	299473781	Disease	p.Asp150Asn	600837.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600837	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3	OMIM	48	pfam00019	NULL
2668	729567	Disease	p.Thr154Ser	600837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600837	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3	OMIM	43	pfam00019	4503975,NP_000505
2668	40549411	Disease	p.Thr154Ser	600837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600837	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3	OMIM	78	pfam00019	NULL
2668	299473779	Disease	p.Thr154Ser	600837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600837	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3	OMIM	26	pfam00019	NULL
2668	299473781	Disease	p.Thr154Ser	600837.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600837	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3	OMIM	58	pfam00019	NULL
2668	729567	Disease	p.Ile211Met	600837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600837	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3	OMIM	No Domain	N/A	4503975,NP_000505
2668	40549411	Disease	p.Ile211Met	600837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600837	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3	OMIM	No Domain	N/A	NULL
2668	299473779	Disease	p.Ile211Met	600837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600837	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3	OMIM	95	pfam00019	NULL
2668	299473781	Disease	p.Ile211Met	600837.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600837	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3	OMIM	No Domain	N/A	NULL
5146	90111861	Disease	p.Arg29Trp	600827.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600827	CONE DYSTROPHY 4	OMIM	No Domain	N/A	157364939,NP_006195
5146	90111861	Disease	p.Tyr323Asn	600827.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600827	ACHROMATOPISIA 5	OMIM	139	smart00065	157364939,NP_006195
5146	90111861	Disease	p.Tyr323Asn	600827.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600827	ACHROMATOPISIA 5	OMIM	108	pfam01590	157364939,NP_006195
5146	90111861	Disease	p.Met455Val	600827.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600827	ACHROMATOPISIA 5	OMIM	No Domain	N/A	157364939,NP_006195
5146	90111861	Disease	p.His602Leu	600827.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600827	ACHROMATOPISIA 5	OMIM	115	smart00471	157364939,NP_006195
5146	90111861	Disease	p.His602Leu	600827.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600827	ACHROMATOPISIA 5	OMIM	42	pfam00233	157364939,NP_006195
5146	90111861	Disease	p.His602Leu	600827.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600827	ACHROMATOPISIA 5	OMIM	61	cd00077	157364939,NP_006195
5146	90111861	Disease	p.Glu790Lys	600827.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600827	ACHROMATOPISIA 5	OMIM	243	pfam00233	157364939,NP_006195
8048	1705933	Disease	p.Trp4Arg	600824.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600824	CARDIOMYOPATHY, DILATED, 1M	OMIM	No Domain	N/A	189083753,NP_001121128|4502893,NP_003467
8048	1705933	Disease	p.Trp4Arg	600824.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600824	CARDIOMYOPATHY, DILATED, 1M	OMIM	No Domain	N/A	189083753,NP_001121128|4502893,NP_003467
8048	1705933	Disease	p.Cys58Gly	600824.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600824	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12	OMIM	62	pfam00412	189083753,NP_001121128|4502893,NP_003467
8048	1705933	Disease	p.Cys58Gly	600824.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600824	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12	OMIM	62	pfam00412	189083753,NP_001121128|4502893,NP_003467
8048	1705933	Disease	p.Leu44Pro	600824.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600824	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12	OMIM	55	smart00132	189083753,NP_001121128|4502893,NP_003467
8048	1705933	Disease	p.Leu44Pro	600824.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600824	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12	OMIM	40	pfam00412	189083753,NP_001121128|4502893,NP_003467
8048	1705933	Disease	p.Leu44Pro	600824.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600824	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12	OMIM	55	smart00132	189083753,NP_001121128|4502893,NP_003467
8048	1705933	Disease	p.Leu44Pro	600824.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600824	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12	OMIM	40	pfam00412	189083753,NP_001121128|4502893,NP_003467
8048	1705933	Disease	p.Ser54Arg	600824.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600824	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12	OMIM	54	pfam00412	189083753,NP_001121128|4502893,NP_003467
8048	1705933	Disease	p.Ser54Arg	600824.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600824	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12	OMIM	54	pfam00412	189083753,NP_001121128|4502893,NP_003467
8048	1705933	Disease	p.Lys69Arg	600824.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600824	CARDIOMYOPATHY, DILATED, 1M	OMIM	No Domain	N/A	189083753,NP_001121128|4502893,NP_003467
8048	1705933	Disease	p.Lys69Arg	600824.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600824	CARDIOMYOPATHY, DILATED, 1M	OMIM	No Domain	N/A	189083753,NP_001121128|4502893,NP_003467
8048	1705933	Disease	p.Ser46Arg	600824.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600824	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12	OMIM	42	pfam00412	189083753,NP_001121128|4502893,NP_003467
8048	1705933	Disease	p.Ser46Arg	600824.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600824	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12	OMIM	42	pfam00412	189083753,NP_001121128|4502893,NP_003467
4361	17380137	Disease	p.Asn117Ser	600814.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600814	ATAXIA-TELANGIECTASIA-LIKE DISORDER	OMIM	115	COG0420	5031923,NP_005582
4361	17380137	Disease	p.Asn117Ser	600814.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600814	ATAXIA-TELANGIECTASIA-LIKE DISORDER	OMIM	172	pfam00149	5031923,NP_005582
4361	17380137	Disease	p.Asn117Ser	600814.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600814	ATAXIA-TELANGIECTASIA-LIKE DISORDER	OMIM	145	cd00840	5031923,NP_005582
4361	24234690	Disease	p.Asn117Ser	600814.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600814	ATAXIA-TELANGIECTASIA-LIKE DISORDER	OMIM	115	COG0420	NULL
4361	24234690	Disease	p.Asn117Ser	600814.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600814	ATAXIA-TELANGIECTASIA-LIKE DISORDER	OMIM	172	pfam00149	NULL
4361	24234690	Disease	p.Asn117Ser	600814.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600814	ATAXIA-TELANGIECTASIA-LIKE DISORDER	OMIM	145	cd00840	NULL
4361	17380137	Disease	p.Thr481Lys	600814.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600814	ATAXIA-TELANGIECTASIA-LIKE DISORDER	OMIM	511	COG0420	5031923,NP_005582
4361	24234690	Disease	p.Thr481Lys	600814.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600814	ATAXIA-TELANGIECTASIA-LIKE DISORDER	OMIM	511	COG0420	NULL
4361	17380137	Disease	p.Trp210Cys	600814.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600814	ATAXIA-TELANGIECTASIA-LIKE DISORDER	OMIM	208	COG0420	5031923,NP_005582
4361	17380137	Disease	p.Trp210Cys	600814.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600814	ATAXIA-TELANGIECTASIA-LIKE DISORDER	OMIM	344	pfam00149	5031923,NP_005582
4361	17380137	Disease	p.Trp210Cys	600814.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600814	ATAXIA-TELANGIECTASIA-LIKE DISORDER	OMIM	289	cd00840	5031923,NP_005582
4361	24234690	Disease	p.Trp210Cys	600814.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600814	ATAXIA-TELANGIECTASIA-LIKE DISORDER	OMIM	208	COG0420	NULL
4361	24234690	Disease	p.Trp210Cys	600814.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600814	ATAXIA-TELANGIECTASIA-LIKE DISORDER	OMIM	344	pfam00149	NULL
4361	24234690	Disease	p.Trp210Cys	600814.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600814	ATAXIA-TELANGIECTASIA-LIKE DISORDER	OMIM	289	cd00840	NULL
1643	12230033	Disease	p.Lys244Glu	600811.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600811	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM	OMIM	39	smart00320	4557515,NP_000098
1643	12230033	Disease	p.Lys244Glu	600811.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600811	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM	OMIM	14	pfam00400	4557515,NP_000098
1643	12230033	Disease	p.Lys244Glu	600811.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600811	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM	OMIM	386	cd00200	4557515,NP_000098
1643	12230033	Disease	p.Arg273His	600811.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600811	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM	OMIM	446	cd00200	4557515,NP_000098
1643	12230033	Disease	p.Asp307Tyr	600811.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600811	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM	OMIM	101	smart00320	4557515,NP_000098
1643	12230033	Disease	p.Asp307Tyr	600811.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600811	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM	OMIM	574	cd00200	4557515,NP_000098
659	12643724	Disease	p.Cys118Trp	600799.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	132	pfam01064	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	147	cd06628	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	144	cd05148	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	163	cd06638	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	142	cd06630	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	158	cd06632	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	134	cd05116	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	156	cd05044	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	147	cd05040	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	139	cd05086	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	142	cd05042	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	141	cd05060	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	359	cd00192	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	149	cd06629	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	144	cd05087	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	133	cd05085	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	143	cd06631	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	135	cd05041	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	133	cd05084	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	134	cd05115	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	139	cd05114	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	139	cd05112	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	140	cd05113	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	141	cd05059	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	154	cd06616	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	148	cd05110	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	170	cd05038	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	145	cd05065	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	147	cd05081	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	148	cd05079	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	145	cd05066	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	145	cd05039	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	177	cd05033	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	162	cd05574	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	146	cd05034	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	201	cd05057	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	148	cd05109	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	148	cd05111	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	148	cd05108	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	139	cd05083	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	203	cd05032	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	158	cd06618	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	150	cd06637	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	191	cd06614	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	142	cd06626	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	146	cd08224	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	155	cd06648	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	173	cd07851	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	162	cd05094	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	180	cd05095	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	170	cd05049	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	148	cd07858	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	175	cd05056	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	166	cd05048	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	172	cd05050	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	225	cd05046	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	170	cd05097	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	159	cd05061	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	157	cd07864	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	161	cd05092	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	142	cd05073	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	142	cd05072	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	141	cd05067	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	144	cd05068	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	141	cd05082	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	146	cd05064	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	143	cd05052	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	147	cd05063	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	158	cd05062	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	452	smart00219	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	231	pfam00069	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	314	pfam07714	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	166	cd07835	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	146	cd05080	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	214	cd07830	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	148	cd05118	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	189	cd07829	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	166	cd07838	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	600	smart00221	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	189	cd07840	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	162	cd05035	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	163	cd07865	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	145	cd06646	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	174	cd06639	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	179	cd05098	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	159	cd07850	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	153	cd06624	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	507	smart00220	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	189	cd05053	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	140	cd06640	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	143	cd07872	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	143	cd07873	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	142	cd07871	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	143	cd07844	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	142	cd06613	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	142	cd07870	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	140	cd06642	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	138	cd07839	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	139	cd07860	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	141	cd07861	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	150	cd07863	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	229	cd06606	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	156	cd07841	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	144	cd05614	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	166	cd05045	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	174	cd05122	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	143	cd07853	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	148	cd08530	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	142	cd07836	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	199	cd08215	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	149	cd08220	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	145	cd08529	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	210	cd08217	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	149	cd06627	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	159	cd07832	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	140	cd05578	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	145	cd06651	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	144	cd05583	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	157	cd05613	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	148	cd07857	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	185	cd07834	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	249	cd07842	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	157	cd07880	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	158	cd07874	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	655	cd05123	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	135	cd05579	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	439	cd00180	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	173	cd05099	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	659	COG0515	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	188	cd06623	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	155	cd06622	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	158	cd07837	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	182	cd06608	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	151	cd06610	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	145	cd06625	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	150	cd06917	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	140	cd05612	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	141	cd05597	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	140	cd07846	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	145	cd07847	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	140	cd05609	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	144	cd06617	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	141	cd06615	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	163	cd06609	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	158	cd06605	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	255	cd05581	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	160	cd05036	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	154	cd06612	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	163	cd05088	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	600799.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	160	cd07845	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	265	cd06632	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	236	cd05116	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	257	cd05044	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	253	cd05040	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	251_G	cd05086	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	255_G	cd05042	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	504	cd00192	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	258	cd06629	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	236	cd05115	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	240	cd05113	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	241	cd05059	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	299	cd06616	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	279	cd05110	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	310	cd05038	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	249	cd05065	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	264	cd05081	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	264	cd05079	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	247	cd05066	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	340	cd05574	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	279	cd05108	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	312	cd06618	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	290	cd06626	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	256	cd06648	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	347	cd07851	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	286	cd05094	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	290	cd05095	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	275	cd05049	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	282	cd07858	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	299	cd05056	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	288	cd07864	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	262	cd05092	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	242	cd05072	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	267	cd05067	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	247	cd05068	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	684	smart00219	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	451	pfam00069	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	466	pfam07714	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	298	cd07835	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	262	cd05080	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	378	cd07830	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	293	cd05118	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	335	cd07829	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	337	cd07838	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	404	cd07840	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	264	cd05035	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	336	cd07865	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	279	cd06639	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	280	cd07850	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	1191	smart00220	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	238	cd06640	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	268	cd07872	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	280	cd07873	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	270	cd07871	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	279	cd07844	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	259	cd07870	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	238	cd06642	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	264	cd07839	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	262	cd07860	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	275	cd07861	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	273	cd07863	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	319	cd07841	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	247	cd05614	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	336	cd05122	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	265	cd07853	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	268	cd07836	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	278	cd05583	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	290	cd05613	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	310	cd07857	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	443	cd07834	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	283	cd07880	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	274	cd07874	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	887	cd05123	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	841	cd00180	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	274	cd05099	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	1165	COG0515	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	323	cd06623	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	306	cd06622	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	284	cd07837	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	255	cd06917	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	264	cd05612	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	274	cd05597	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	289	cd07846	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	286	cd07847	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	283	cd05609	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	305	cd06615	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	512	cd05581	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	294	cd05088	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	600799.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	298	cd07845	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	271	cd06632	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	242	cd05116	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	263	cd05044	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	259	cd05040	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	257	cd05086	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	261	cd05042	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	510	cd00192	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	265	cd06629	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	242	cd05115	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	246	cd05113	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	247	cd05059	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	285	cd05110	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	316	cd05038	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	255	cd05065	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	270	cd05081	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	270	cd05079	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	253	cd05066	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	346	cd05574	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	285	cd05108	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	296	cd06626	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	262	cd06648	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	353	cd07851	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	292	cd05094	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	296	cd05095	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	281	cd05049	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	288	cd07858	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	294	cd07864	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	268	cd05092	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	248	cd05072	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	273	cd05067	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	253	cd05068	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	690	smart00219	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	457	pfam00069	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	472	pfam07714	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	304	cd07835	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	268	cd05080	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	384	cd07830	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	299	cd05118	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	353	cd07829	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	343	cd07838	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	408	cd07840	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	270	cd05035	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	342	cd07865	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	285	cd06639	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	288	cd07850	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	1197	smart00220	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	244	cd06640	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	274	cd07872	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	286	cd07873	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	276	cd07871	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	285	cd07844	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	260	cd07870	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	244	cd06642	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	274	cd07839	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	272	cd07860	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	281	cd07861	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	279	cd07863	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	325	cd07841	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	253	cd05614	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	342	cd05122	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	271	cd07853	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	274	cd07836	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	284	cd05583	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	296	cd05613	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	316	cd07857	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	449	cd07834	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	289	cd07880	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	281	cd07874	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	912	cd05123	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	851	cd00180	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	280	cd05099	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	1171	COG0515	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	329	cd06623	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	312	cd06622	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	290	cd07837	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	261	cd06917	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	270	cd05612	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	280	cd05597	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	295	cd07846	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	292	cd07847	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	289	cd05609	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	313	cd06615	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	518	cd05581	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	300	cd05088	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	600799.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	304	cd07845	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	271	cd06632	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	242	cd05116	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	263	cd05044	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	259	cd05040	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	257	cd05086	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	261	cd05042	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	510	cd00192	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	265	cd06629	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	242	cd05115	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	246	cd05113	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	247	cd05059	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	285	cd05110	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	316	cd05038	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	255	cd05065	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	270	cd05081	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	270	cd05079	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	253	cd05066	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	346	cd05574	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	285	cd05108	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	296	cd06626	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	262	cd06648	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	353	cd07851	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	292	cd05094	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	296	cd05095	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	281	cd05049	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	288	cd07858	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	294	cd07864	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	268	cd05092	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	248	cd05072	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	273	cd05067	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	253	cd05068	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	690	smart00219	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	457	pfam00069	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	472	pfam07714	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	304	cd07835	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	268	cd05080	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	384	cd07830	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	299	cd05118	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	353	cd07829	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	343	cd07838	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	408	cd07840	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	270	cd05035	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	342	cd07865	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	285	cd06639	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	288	cd07850	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	1197	smart00220	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	244	cd06640	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	274	cd07872	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	286	cd07873	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	276	cd07871	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	285	cd07844	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	260	cd07870	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	244	cd06642	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	274	cd07839	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	272	cd07860	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	281	cd07861	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	279	cd07863	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	325	cd07841	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	253	cd05614	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	342	cd05122	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	271	cd07853	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	274	cd07836	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	284	cd05583	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	296	cd05613	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	316	cd07857	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	449	cd07834	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	289	cd07880	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	281	cd07874	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	912	cd05123	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	851	cd00180	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	280	cd05099	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	1171	COG0515	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	329	cd06623	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	312	cd06622	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	290	cd07837	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	261	cd06917	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	270	cd05612	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	280	cd05597	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	295	cd07846	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	292	cd07847	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	289	cd05609	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	313	cd06615	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	518	cd05581	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	300	cd05088	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	600799.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	304	cd07845	15451916,NP_001195
659	12643724	Disease	p.Cys123Arg	600799.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	137	pfam01064	15451916,NP_001195
659	12643724	Disease	p.Cys123Ser	600799.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	137	pfam01064	15451916,NP_001195
659	12643724	Disease	p.Arg899Pro	600799.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, 1	OMIM	No Domain	N/A	15451916,NP_001195
659	12643724	Disease	p.Gly182Asp	600799.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED	OMIM	2	cd06638	15451916,NP_001195
659	12643724	Disease	p.Gly182Asp	600799.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600799	PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED	OMIM	4	cd06648	15451916,NP_001195
8660	62298062	Disease	p.Gly1057Asp	600797.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600797	DIABETES, TYPE II, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	38683860,NP_003740
8660	62298062	Disease	p.Leu647Val	600797.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600797	DIABETES, TYPE II, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	38683860,NP_003740
5697	1172796	Disease	p.Gln62Pro	600781.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600781	OBESITY, SUSCEPTIBILITY TO	OMIM	38	pfam00159	300068956,NP_004151
5697	1172796	Disease	p.Gln62Pro	600781.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600781	OBESITY, SUSCEPTIBILITY TO	OMIM	36	cd00126	300068956,NP_004151
5697	1172796	Disease	p.Gln62Pro	600781.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600781	OBESITY, SUSCEPTIBILITY TO	OMIM	36	smart00309	300068956,NP_004151
6340	108885072	Disease	p.Gly183Ser	600761.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600761	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3	OMIM	292	pfam00858	42476333,NP_001030
6340	108885072	Disease	p.Glu197Lys	600761.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600761	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3	OMIM	476	pfam00858	42476333,NP_001030
6338	8928561	Disease	p.Pro616Leu	600760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600760	LIDDLE SYNDROME	OMIM	No Domain	N/A	124301196,NP_000327
6338	8928561	Disease	p.Gly37Ser	600760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600760	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE	OMIM	9	pfam00858	124301196,NP_000327
6338	8928561	Disease	p.Tyr618His	600760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600760	LIDDLE SYNDROME	OMIM	No Domain	N/A	124301196,NP_000327
6338	8928561	Disease	p.Pro615Ser	600760.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600760	LIDDLE SYNDROME	OMIM	No Domain	N/A	124301196,NP_000327
6338	8928561	Disease	p.Pro616Arg	600760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600760	LIDDLE SYNDROME	OMIM	No Domain	N/A	124301196,NP_000327
6338	8928561	Disease	p.Pro267Leu	600760.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600760	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1	OMIM	836	pfam00858	124301196,NP_000327
6338	8928561	Disease	p.Gly294Ser	600760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600760	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1	OMIM	958	pfam00858	124301196,NP_000327
6338	8928561	Disease	p.Glu539Lys	600760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600760	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1	OMIM	1604	pfam00858	124301196,NP_000327
6338	8928561	Disease	p.Pro369Thr	600760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600760	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1	OMIM	1193	pfam00858	124301196,NP_000327
6338	8928561	Disease	p.Asn288Ser	600760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600760	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1	OMIM	952	pfam00858	124301196,NP_000327
6338	8928561	Disease	p.Ser82Cys	600760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600760	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1	OMIM	113	pfam00858	124301196,NP_000327
5664	1709858	Disease	p.Asn141Ile	600759.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	6	smart00730	156105679,NP_000438
5664	1709858	Disease	p.Asn141Ile	600759.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	67	pfam01080	156105679,NP_000438
5664	156105681	Disease	p.Asn141Ile	600759.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	6	smart00730	NULL
5664	156105681	Disease	p.Asn141Ile	600759.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	67	pfam01080	NULL
5664	1709858	Disease	p.Met239Val	600759.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	238	smart00730	156105679,NP_000438
5664	1709858	Disease	p.Met239Val	600759.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	172	pfam01080	156105679,NP_000438
5664	156105681	Disease	p.Met239Val	600759.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	238	smart00730	NULL
5664	156105681	Disease	p.Met239Val	600759.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	172	pfam01080	NULL
5664	1709858	Disease	p.Asp439Ala	600759.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	No Domain	N/A	156105679,NP_000438
5664	156105681	Disease	p.Asp439Ala	600759.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	No Domain	N/A	NULL
5664	1709858	Disease	p.Thr430Met	600759.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	715	smart00730	156105679,NP_000438
5664	1709858	Disease	p.Thr430Met	600759.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	471	pfam01080	156105679,NP_000438
5664	156105681	Disease	p.Thr430Met	600759.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	716	smart00730	NULL
5664	156105681	Disease	p.Thr430Met	600759.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	472	pfam01080	NULL
5664	1709858	Disease	p.Thr122Pro	600759.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	48	pfam01080	156105679,NP_000438
5664	156105681	Disease	p.Thr122Pro	600759.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	48	pfam01080	NULL
5664	1709858	Disease	p.Met239Ile	600759.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	238	smart00730	156105679,NP_000438
5664	1709858	Disease	p.Met239Ile	600759.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	172	pfam01080	156105679,NP_000438
5664	156105681	Disease	p.Met239Ile	600759.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	238	smart00730	NULL
5664	156105681	Disease	p.Met239Ile	600759.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	172	pfam01080	NULL
5664	1709858	Disease	p.Thr122Arg	600759.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	48	pfam01080	156105679,NP_000438
5664	156105681	Disease	p.Thr122Arg	600759.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	48	pfam01080	NULL
5664	1709858	Disease	p.Ser130Leu	600759.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	CARDIOMYOPATHY, DILATED, 1V||ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	56	pfam01080	156105679,NP_000438
5664	156105681	Disease	p.Ser130Leu	600759.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	CARDIOMYOPATHY, DILATED, 1V||ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	56	pfam01080	NULL
5664	1709858	Disease	p.Ala85Val	600759.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	10	pfam01080	156105679,NP_000438
5664	156105681	Disease	p.Ala85Val	600759.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600759	ALZHEIMER DISEASE, FAMILIAL, 4	OMIM	10	pfam01080	NULL
3762	296434543	Disease	p.Gly387Arg	600734.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600734	LONG QT SYNDROME 13	OMIM	375	pfam01007	24797141,NP_000881
8050	260898739	Disease	p.Asp76Asn	600733.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	26	cd06849	NULL
8050	260898739	Disease	p.Asp76Asn	600733.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	21	pfam00364	NULL
8050	260898739	Disease	p.Asp76Asn	600733.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	19	pfam00198	NULL
8050	260898739	Disease	p.Asp76Asn	600733.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	27	cd06663	NULL
8050	260898739	Disease	p.Asp76Asn	600733.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	22	COG0508	NULL
8050	12643417	Disease	p.Asp76Asn	600733.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	26	cd06850	203098753,NP_003468
8050	12643417	Disease	p.Asp76Asn	600733.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	21	pfam00364	203098753,NP_003468
8050	12643417	Disease	p.Asp76Asn	600733.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	26	cd06849	203098753,NP_003468
8050	12643417	Disease	p.Asp76Asn	600733.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	27	cd06663	203098753,NP_003468
8050	12643417	Disease	p.Asp76Asn	600733.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	22	COG0508	203098753,NP_003468
8050	203098816	Disease	p.Asp76Asn	600733.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	36	pfam00364	NULL
8050	203098816	Disease	p.Asp76Asn	600733.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	41	cd06849	NULL
8050	203098816	Disease	p.Asp76Asn	600733.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	37	COG0508	NULL
8050	203098816	Disease	p.Asp76Asn	600733.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	42	cd06663	NULL
8050	203098816	Disease	p.Asp76Asn	600733.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	42	cd06850	NULL
8050	260898739	Disease	p.Gln59Leu	600733.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	3	cd06849	NULL
8050	260898739	Disease	p.Gln59Leu	600733.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	3	pfam00364	NULL
8050	260898739	Disease	p.Gln59Leu	600733.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	2	cd06663	NULL
8050	260898739	Disease	p.Gln59Leu	600733.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	5	COG0508	NULL
8050	12643417	Disease	p.Gln59Leu	600733.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	3	pfam00364	203098753,NP_003468
8050	12643417	Disease	p.Gln59Leu	600733.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	3	cd06849	203098753,NP_003468
8050	12643417	Disease	p.Gln59Leu	600733.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	2	cd06663	203098753,NP_003468
8050	12643417	Disease	p.Gln59Leu	600733.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	5	COG0508	203098753,NP_003468
8050	203098816	Disease	p.Gln59Leu	600733.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	19	pfam00364	NULL
8050	203098816	Disease	p.Gln59Leu	600733.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	22	cd06849	NULL
8050	203098816	Disease	p.Gln59Leu	600733.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	20	COG0508	NULL
8050	203098816	Disease	p.Gln59Leu	600733.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	18	cd06663	NULL
8050	203098816	Disease	p.Gln59Leu	600733.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	12	cd06850	NULL
8050	260898739	Disease	p.Cys18Arg	600733.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
8050	12643417	Disease	p.Cys18Arg	600733.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	203098753,NP_003468
8050	203098816	Disease	p.Cys18Arg	600733.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
8050	260898739	Disease	p.Arg197His	600733.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	223	pfam00198	NULL
8050	260898739	Disease	p.Arg197His	600733.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	598	COG0508	NULL
8050	12643417	Disease	p.Arg197His	600733.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	18	pfam02817	203098753,NP_003468
8050	12643417	Disease	p.Arg197His	600733.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	309	COG0508	203098753,NP_003468
8050	203098816	Disease	p.Arg197His	600733.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	37	pfam02817	NULL
8050	203098816	Disease	p.Arg197His	600733.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	327	COG0508	NULL
8050	260898739	Disease	p.Glu224Lys	600733.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV	OMIM	256	pfam00198	NULL
8050	260898739	Disease	p.Glu224Lys	600733.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV	OMIM	625	COG0508	NULL
8050	12643417	Disease	p.Glu224Lys	600733.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV	OMIM	339	COG0508	203098753,NP_003468
8050	203098816	Disease	p.Glu224Lys	600733.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV	OMIM	366	COG0508	NULL
8050	260898739	Disease	p.Glu164Asp	600733.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	PANCREATIC AGENESIS	OMIM	187	pfam00198	NULL
8050	260898739	Disease	p.Glu164Asp	600733.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	PANCREATIC AGENESIS	OMIM	549	COG0508	NULL
8050	12643417	Disease	p.Glu164Asp	600733.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	PANCREATIC AGENESIS	OMIM	251	COG0508	203098753,NP_003468
8050	203098816	Disease	p.Glu164Asp	600733.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	PANCREATIC AGENESIS	OMIM	272	COG0508	NULL
8050	260898739	Disease	p.Glu178Lys	600733.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	PANCREATIC AGENESIS	OMIM	202	pfam00198	NULL
8050	260898739	Disease	p.Glu178Lys	600733.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	PANCREATIC AGENESIS	OMIM	563	COG0508	NULL
8050	12643417	Disease	p.Glu178Lys	600733.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	PANCREATIC AGENESIS	OMIM	271	COG0508	203098753,NP_003468
8050	203098816	Disease	p.Glu178Lys	600733.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	PANCREATIC AGENESIS	OMIM	14	pfam02817	NULL
8050	203098816	Disease	p.Glu178Lys	600733.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600733	PANCREATIC AGENESIS	OMIM	305	COG0508	NULL
3549	33112634	Disease	p.Glu95Lys	600726.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600726	BRACHYDACTYLY, TYPE A1	OMIM	52	pfam01085	119392086,NP_002172
3549	33112634	Disease	p.Glu131Lys	600726.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600726	BRACHYDACTYLY, TYPE A1	OMIM	88	pfam01085	119392086,NP_002172
3549	33112634	Disease	p.Asp100Glu	600726.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600726	BRACHYDACTYLY, TYPE A1	OMIM	57	pfam01085	119392086,NP_002172
3549	33112634	Disease	p.Asp100Asn	600726.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600726	BRACHYDACTYLY, TYPE A1	OMIM	57	pfam01085	119392086,NP_002172
3549	33112634	Disease	p.Pro46Leu	600726.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600726	ACROCAPITOFEMORAL DYSPLASIA	OMIM	3	pfam01085	119392086,NP_002172
3549	33112634	Disease	p.Val190Ala	600726.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600726	ACROCAPITOFEMORAL DYSPLASIA	OMIM	No Domain	N/A	119392086,NP_002172
3549	33112634	Disease	p.Glu95Gly	600726.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600726	BRACHYDACTYLY, TYPE A1	OMIM	52	pfam01085	119392086,NP_002172
3549	33112634	Disease	p.Thr154Ile	600726.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600726	BRACHYDACTYLY, TYPE A1	OMIM	111	pfam01085	119392086,NP_002172
3549	33112634	Disease	p.Arg128Gln	600726.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600726	BRACHYDACTYLY, TYPE A1	OMIM	85	pfam01085	119392086,NP_002172
3549	33112634	Disease	p.Thr130Asn	600726.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600726	BRACHYDACTYLY, TYPE A1	OMIM	87	pfam01085	119392086,NP_002172
6469	6094283	Disease	p.Gly31Arg	600725.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725	HOLOPROSENCEPHALY 3	OMIM	No Domain	N/A	4506939,NP_000184
6469	6094283	Disease	p.Trp117Gly	600725.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725	HOLOPROSENCEPHALY 3	OMIM	79	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Trp117Arg	600725.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725	HOLOPROSENCEPHALY 3	OMIM	79	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Val224Glu	600725.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725	HOLOPROSENCEPHALY 3	OMIM	171	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Val224Glu	600725.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725	HOLOPROSENCEPHALY 3	OMIM	71	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Val224Glu	600725.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725	HOLOPROSENCEPHALY 3	OMIM	47	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Ala226Thr	600725.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725	HOLOPROSENCEPHALY 3	OMIM	173	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Ala226Thr	600725.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725	HOLOPROSENCEPHALY 3	OMIM	73	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Ala226Thr	600725.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725	HOLOPROSENCEPHALY 3	OMIM	49	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Ala384Thr	600725.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725	HOLOPROSENCEPHALY 3	OMIM	259	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Gly290Asp	600725.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725	HOLOPROSENCEPHALY 3	OMIM	356	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Gly290Asp	600725.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725	HOLOPROSENCEPHALY 3	OMIM	214	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Gly290Asp	600725.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725	HOLOPROSENCEPHALY 3	OMIM	148	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Pro424Ala	600725.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725	HOLOPROSENCEPHALY 3	OMIM	326	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Ile111Phe	600725.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725	SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	OMIM	73	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Asp88Val	600725.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725	HOLOPROSENCEPHALY 3	OMIM	50	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Val332Ala	600725.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725	SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	OMIM	11	smart00305	4506939,NP_000184
6469	6094283	Disease	p.Val332Ala	600725.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725	SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	OMIM	660	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Val332Ala	600725.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725	SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	OMIM	205	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Asn115Lys	600725.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600725	HOLOPROSENCEPHALY 3	OMIM	77	pfam01085	4506939,NP_000184
1258	208431781	Disease	p.Gly993Val	600724.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600724	RETINITIS PIGMENTOSA 45	OMIM	No Domain	N/A	NULL
1258	257051004	Disease	p.Gly993Val	600724.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600724	RETINITIS PIGMENTOSA 45	OMIM	89	COG0664	114205399,NP_001288
1258	257051004	Disease	p.Gly993Val	600724.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600724	RETINITIS PIGMENTOSA 45	OMIM	45	smart00100	114205399,NP_001288
1258	257051004	Disease	p.Gly993Val	600724.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600724	RETINITIS PIGMENTOSA 45	OMIM	40	cd00038	114205399,NP_001288
1258	257051004	Disease	p.Gly993Val	600724.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600724	RETINITIS PIGMENTOSA 45	OMIM	14	pfam00027	114205399,NP_001288
5538	1709747	Disease	p.Arg122Trp	600722.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600722	CEROID LIPOFUSCINOSIS, NEURONAL, 1	OMIM	95	pfam02089	4506031,NP_000301
5538	217272890	Disease	p.Arg122Trp	600722.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600722	CEROID LIPOFUSCINOSIS, NEURONAL, 1	OMIM	198	pfam02089	NULL
5538	1709747	Disease	p.Thr75Pro	600722.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600722	CEROID LIPOFUSCINOSIS, NEURONAL, 1	OMIM	48	pfam02089	4506031,NP_000301
5538	217272890	Disease	p.Thr75Pro	600722.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600722	CEROID LIPOFUSCINOSIS, NEURONAL, 1	OMIM	151	pfam02089	NULL
5538	1709747	Disease	p.Asp79Gly	600722.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600722	CEROID LIPOFUSCINOSIS, NEURONAL, 1	OMIM	52	pfam02089	4506031,NP_000301
5538	217272890	Disease	p.Asp79Gly	600722.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600722	CEROID LIPOFUSCINOSIS, NEURONAL, 1	OMIM	155	pfam02089	NULL
5538	1709747	Disease	p.Leu219Gln	600722.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600722	CEROID LIPOFUSCINOSIS, NEURONAL, 1	OMIM	192	pfam02089	4506031,NP_000301
5538	217272890	Disease	p.Leu219Gln	600722.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600722	CEROID LIPOFUSCINOSIS, NEURONAL, 1	OMIM	No Domain	N/A	NULL
5538	1709747	Disease	p.Gly108Arg	600722.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600722	CEROID LIPOFUSCINOSIS, NEURONAL, 1	OMIM	81	pfam02089	4506031,NP_000301
5538	217272890	Disease	p.Gly108Arg	600722.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600722	CEROID LIPOFUSCINOSIS, NEURONAL, 1	OMIM	184	pfam02089	NULL
5538	1709747	Disease	p.Cys45Tyr	600722.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600722	CEROID LIPOFUSCINOSIS, NEURONAL, 1	OMIM	18	pfam02089	4506031,NP_000301
5538	217272890	Disease	p.Cys45Tyr	600722.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600722	CEROID LIPOFUSCINOSIS, NEURONAL, 1	OMIM	121	pfam02089	NULL
26191	301171662	Disease	p.Arg620Trp	600716.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600716	DIABETES MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO||RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO||SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO||HASHIMOTO THYROIDITIS, SUSCEPTIBILITY TO||ADDISON DISEASE, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
26191	20139861	Disease	p.Arg620Trp	600716.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600716	DIABETES MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO||RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO||SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO||HASHIMOTO THYROIDITIS, SUSCEPTIBILITY TO||ADDISON DISEASE, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	224586929,NP_057051
26191	301171669	Disease	p.Arg620Trp	600716.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600716	DIABETES MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO||RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO||SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO||HASHIMOTO THYROIDITIS, SUSCEPTIBILITY TO||ADDISON DISEASE, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
7140	112789541	Disease	p.Arg63His	600692.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600692	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	10	pfam00992	NULL
7140	5803203	Disease	p.Arg63His	600692.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600692	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	2	pfam00992	NULL
7140	112789538	Disease	p.Arg63His	600692.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600692	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	4	pfam00992	NULL
7140	112789536	Disease	p.Arg63His	600692.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600692	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	10	pfam00992	NULL
6566	262073007	Disease	p.Lys204Glu	600682.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600682	ERYTHROCYTE LACTATE TRANSPORTER DEFECT	OMIM	386	pfam07690	NULL
6566	262073007	Disease	p.Lys204Glu	600682.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600682	ERYTHROCYTE LACTATE TRANSPORTER DEFECT	OMIM	359	cd06174	NULL
6566	115583685	Disease	p.Lys204Glu	600682.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600682	ERYTHROCYTE LACTATE TRANSPORTER DEFECT	OMIM	386	pfam07690	NULL
6566	115583685	Disease	p.Lys204Glu	600682.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600682	ERYTHROCYTE LACTATE TRANSPORTER DEFECT	OMIM	359	cd06174	NULL
6566	262073007	Disease	p.Gly472Arg	600682.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600682	ERYTHROCYTE LACTATE TRANSPORTER DEFECT	OMIM	No Domain	N/A	NULL
6566	115583685	Disease	p.Gly472Arg	600682.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600682	ERYTHROCYTE LACTATE TRANSPORTER DEFECT	OMIM	No Domain	N/A	NULL
3759	54037433	Disease	p.Asp71Val	600681.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600681	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS	OMIM	25	pfam01007	4504835,NP_000882
3759	54037433	Disease	p.Arg218Trp	600681.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600681	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS	OMIM	196	pfam01007	4504835,NP_000882
3759	54037433	Disease	p.Gly300Val	600681.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600681	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS	OMIM	280	pfam01007	4504835,NP_000882
3759	54037433	Disease	p.Arg67Trp	600681.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600681	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS	OMIM	21	pfam01007	4504835,NP_000882
3759	54037433	Disease	p.Pro186Leu	600681.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600681	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS	OMIM	164	pfam01007	4504835,NP_000882
3759	54037433	Disease	p.Val302Met	600681.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600681	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS	OMIM	282	pfam01007	4504835,NP_000882
3759	54037433	Disease	p.Asn216His	600681.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600681	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS	OMIM	194	pfam01007	4504835,NP_000882
3759	54037433	Disease	p.Asp172Asn	600681.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600681	SHORT QT SYNDROME 3	OMIM	150	pfam01007	4504835,NP_000882
3759	54037433	Disease	p.Thr75Arg	600681.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600681	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS	OMIM	29	pfam01007	4504835,NP_000882
4205	195972805	Disease	p.Pro279Leu	600660.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600660	CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION	OMIM	No Domain	N/A	NULL
4205	284807140	Disease	p.Pro279Leu	600660.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600660	CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION	OMIM	No Domain	N/A	NULL
4205	195972799	Disease	p.Pro279Leu	600660.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600660	CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION	OMIM	No Domain	N/A	NULL
4205	195972801	Disease	p.Pro279Leu	600660.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600660	CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION	OMIM	No Domain	N/A	NULL
4205	195972803	Disease	p.Pro279Leu	600660.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600660	CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION	OMIM	No Domain	N/A	NULL
4205	195972805	Disease	p.Asn263Ser	600660.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600660	CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION	OMIM	No Domain	N/A	NULL
4205	284807140	Disease	p.Asn263Ser	600660.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600660	CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION	OMIM	No Domain	N/A	NULL
4205	195972799	Disease	p.Asn263Ser	600660.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600660	CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION	OMIM	No Domain	N/A	NULL
4205	195972801	Disease	p.Asn263Ser	600660.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600660	CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION	OMIM	No Domain	N/A	NULL
4205	195972803	Disease	p.Asn263Ser	600660.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600660	CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION	OMIM	No Domain	N/A	NULL
4205	195972805	Disease	p.Gly283Asp	600660.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600660	CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION	OMIM	No Domain	N/A	NULL
4205	284807140	Disease	p.Gly283Asp	600660.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600660	CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION	OMIM	No Domain	N/A	NULL
4205	195972799	Disease	p.Gly283Asp	600660.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600660	CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION	OMIM	No Domain	N/A	NULL
4205	195972801	Disease	p.Gly283Asp	600660.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600660	CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION	OMIM	No Domain	N/A	NULL
4205	195972803	Disease	p.Gly283Asp	600660.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600660	CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION	OMIM	No Domain	N/A	NULL
1376	416836	Disease	p.Arg631Cys	600650.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600650	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE||CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	OMIM	740	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Ser113Leu	600650.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600650	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	OMIM	75	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Pro50His	600650.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600650	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET||CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE	OMIM	3	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Asp553Asn	600650.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600650	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	OMIM	635	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Tyr628Ser	600650.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600650	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE||CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	OMIM	736	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Glu174Lys	600650.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600650	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE	OMIM	149	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Phe383Tyr	600650.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600650	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE||CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	OMIM	417	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Arg503Cys	600650.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600650	MYOPATHY, VARIABLE	OMIM	562	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Phe448Leu	600650.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600650	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET||CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL||CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE	OMIM	506	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Pro227Leu	600650.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600650	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL	OMIM	205	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Asp213Gly	600650.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600650	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	OMIM	188	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Tyr120Cys	600650.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600650	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE	OMIM	82	pfam00755	4503023,NP_000089
7080	1174819	Disease	p.Arg243Ser	600635.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600635	CHOREA, BENIGN HEREDITARY	OMIM	No Domain	N/A	4507715,NP_003308
7080	118766339	Disease	p.Arg243Ser	600635.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600635	CHOREA, BENIGN HEREDITARY	OMIM	62	pfam00046	NULL
7080	118766339	Disease	p.Arg243Ser	600635.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600635	CHOREA, BENIGN HEREDITARY	OMIM	84	cd00086	NULL
7080	118766339	Disease	p.Arg243Ser	600635.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600635	CHOREA, BENIGN HEREDITARY	OMIM	92	smart00389	NULL
7080	1174819	Disease	p.Trp238Leu	600635.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600635	CHOREA, BENIGN HEREDITARY	OMIM	No Domain	N/A	4507715,NP_003308
7080	118766339	Disease	p.Trp238Leu	600635.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600635	CHOREA, BENIGN HEREDITARY	OMIM	57	pfam00046	NULL
7080	118766339	Disease	p.Trp238Leu	600635.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600635	CHOREA, BENIGN HEREDITARY	OMIM	79	cd00086	NULL
7080	118766339	Disease	p.Trp238Leu	600635.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600635	CHOREA, BENIGN HEREDITARY	OMIM	87	smart00389	NULL
7080	1174819	Disease	p.Val45Phe	600635.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600635	CHOREOATHETOSIS, CONGENITAL HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS	OMIM	No Domain	N/A	4507715,NP_003308
7080	118766339	Disease	p.Val45Phe	600635.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600635	CHOREOATHETOSIS, CONGENITAL HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS	OMIM	No Domain	N/A	NULL
2984	311033390	Disease	p.Arg182Leu	600617.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	151	cd06369	222080083,NP_004954
2984	311033390	Disease	p.Arg182Leu	600617.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	275	pfam01094	222080083,NP_004954
2984	311033390	Disease	p.Arg182Leu	600617.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	218	cd04509	222080083,NP_004954
2984	311033390	Disease	p.Arg182Leu	600617.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	191	cd06373	222080083,NP_004954
2984	311033390	Disease	p.Arg182Leu	600617.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	234	cd06352	222080083,NP_004954
2984	311033390	Disease	p.Arg217Thr	600617.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	187	cd06369	222080083,NP_004954
2984	311033390	Disease	p.Arg217Thr	600617.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	313	pfam01094	222080083,NP_004954
2984	311033390	Disease	p.Arg217Thr	600617.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	279	cd04509	222080083,NP_004954
2984	311033390	Disease	p.Arg217Thr	600617.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	264	cd06373	222080083,NP_004954
2984	311033390	Disease	p.Arg217Thr	600617.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	300	cd06352	222080083,NP_004954
2984	311033390	Disease	p.Arg218Val	600617.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	188	cd06369	222080083,NP_004954
2984	311033390	Disease	p.Arg218Val	600617.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	314	pfam01094	222080083,NP_004954
2984	311033390	Disease	p.Arg218Val	600617.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	280	cd04509	222080083,NP_004954
2984	311033390	Disease	p.Arg218Val	600617.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	265	cd06373	222080083,NP_004954
2984	311033390	Disease	p.Arg218Val	600617.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	301	cd06352	222080083,NP_004954
2984	311033390	Disease	p.Arg182His	600617.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	151	cd06369	222080083,NP_004954
2984	311033390	Disease	p.Arg182His	600617.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	275	pfam01094	222080083,NP_004954
2984	311033390	Disease	p.Arg182His	600617.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	218	cd04509	222080083,NP_004954
2984	311033390	Disease	p.Arg182His	600617.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	191	cd06373	222080083,NP_004954
2984	311033390	Disease	p.Arg182His	600617.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	234	cd06352	222080083,NP_004954
2984	311033390	Disease	p.Val187Met	600617.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	156	cd06369	222080083,NP_004954
2984	311033390	Disease	p.Val187Met	600617.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	280	pfam01094	222080083,NP_004954
2984	311033390	Disease	p.Val187Met	600617.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	228	cd04509	222080083,NP_004954
2984	311033390	Disease	p.Val187Met	600617.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	208	cd06373	222080083,NP_004954
2984	311033390	Disease	p.Val187Met	600617.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	243	cd06352	222080083,NP_004954
2984	311033390	Disease	p.Arg188Cys	600617.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	157	cd06369	222080083,NP_004954
2984	311033390	Disease	p.Arg188Cys	600617.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	281	pfam01094	222080083,NP_004954
2984	311033390	Disease	p.Arg188Cys	600617.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	229	cd04509	222080083,NP_004954
2984	311033390	Disease	p.Arg188Cys	600617.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	209	cd06373	222080083,NP_004954
2984	311033390	Disease	p.Arg188Cys	600617.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600617	LIPOID CONGENITAL ADRENAL HYPERPLASIA	OMIM	244	cd06352	222080083,NP_004954
10661	2501699	Disease	p.His299Tyr	600599.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600599	BLOOD GROUP--LUTHERAN INHIBITOR	OMIM	28	smart00355	10835246,NP_006554
10661	2501699	Disease	p.His299Tyr	600599.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600599	BLOOD GROUP--LUTHERAN INHIBITOR	OMIM	28	pfam00096	10835246,NP_006554
1482	1708211	Disease	p.Thr178Met	600584.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS	OMIM	72	cd00086	4758090,NP_004378
1482	1708211	Disease	p.Thr178Met	600584.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS	OMIM	59	smart00389	4758090,NP_004378
1482	1708211	Disease	p.Thr178Met	600584.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS	OMIM	50	pfam00046	4758090,NP_004378
1482	260898752	Disease	p.Thr178Met	600584.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS	OMIM	No Domain	N/A	NULL
1482	260898750	Disease	p.Thr178Met	600584.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS	OMIM	No Domain	N/A	NULL
1482	1708211	Disease	p.Arg25Cys	600584.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	TETRALOGY OF FALLOT||HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5	OMIM	No Domain	N/A	4758090,NP_004378
1482	260898752	Disease	p.Arg25Cys	600584.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	TETRALOGY OF FALLOT||HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5	OMIM	No Domain	N/A	NULL
1482	260898750	Disease	p.Arg25Cys	600584.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	TETRALOGY OF FALLOT||HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5	OMIM	No Domain	N/A	NULL
1482	1708211	Disease	p.Glu21Gln	600584.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	TETRALOGY OF FALLOT	OMIM	No Domain	N/A	4758090,NP_004378
1482	260898752	Disease	p.Glu21Gln	600584.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	TETRALOGY OF FALLOT	OMIM	No Domain	N/A	NULL
1482	260898750	Disease	p.Glu21Gln	600584.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	TETRALOGY OF FALLOT	OMIM	No Domain	N/A	NULL
1482	1708211	Disease	p.Arg216Cys	600584.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	TETRALOGY OF FALLOT	OMIM	No Domain	N/A	4758090,NP_004378
1482	260898752	Disease	p.Arg216Cys	600584.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	TETRALOGY OF FALLOT	OMIM	No Domain	N/A	NULL
1482	260898750	Disease	p.Arg216Cys	600584.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	TETRALOGY OF FALLOT	OMIM	No Domain	N/A	NULL
1482	1708211	Disease	p.Ala219Val	600584.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	TETRALOGY OF FALLOT	OMIM	No Domain	N/A	4758090,NP_004378
1482	260898752	Disease	p.Ala219Val	600584.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	TETRALOGY OF FALLOT	OMIM	No Domain	N/A	NULL
1482	260898750	Disease	p.Ala219Val	600584.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	TETRALOGY OF FALLOT	OMIM	No Domain	N/A	NULL
1482	1708211	Disease	p.Asp299Gly	600584.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS, SOMATIC||ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC	OMIM	No Domain	N/A	4758090,NP_004378
1482	260898752	Disease	p.Asp299Gly	600584.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS, SOMATIC||ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC	OMIM	No Domain	N/A	NULL
1482	260898750	Disease	p.Asp299Gly	600584.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS, SOMATIC||ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC	OMIM	No Domain	N/A	NULL
1482	1708211	Disease	p.Arg190Cys	600584.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS	OMIM	84	cd00086	4758090,NP_004378
1482	1708211	Disease	p.Arg190Cys	600584.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS	OMIM	92	smart00389	4758090,NP_004378
1482	1708211	Disease	p.Arg190Cys	600584.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS	OMIM	62	pfam00046	4758090,NP_004378
1482	260898752	Disease	p.Arg190Cys	600584.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS	OMIM	No Domain	N/A	NULL
1482	260898750	Disease	p.Arg190Cys	600584.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS	OMIM	No Domain	N/A	NULL
1482	1708211	Disease	p.Ala119Ser	600584.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5	OMIM	No Domain	N/A	4758090,NP_004378
1482	260898752	Disease	p.Ala119Ser	600584.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5	OMIM	No Domain	N/A	NULL
1482	260898750	Disease	p.Ala119Ser	600584.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5	OMIM	No Domain	N/A	NULL
1482	1708211	Disease	p.Arg161Pro	600584.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5	OMIM	34	cd00086	4758090,NP_004378
1482	1708211	Disease	p.Arg161Pro	600584.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5	OMIM	31	smart00389	4758090,NP_004378
1482	1708211	Disease	p.Arg161Pro	600584.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5	OMIM	28	pfam00046	4758090,NP_004378
1482	260898752	Disease	p.Arg161Pro	600584.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5	OMIM	No Domain	N/A	NULL
1482	260898750	Disease	p.Arg161Pro	600584.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5	OMIM	No Domain	N/A	NULL
1482	1708211	Disease	p.Lys183Glu	600584.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC	OMIM	77	cd00086	4758090,NP_004378
1482	1708211	Disease	p.Lys183Glu	600584.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC	OMIM	85	smart00389	4758090,NP_004378
1482	1708211	Disease	p.Lys183Glu	600584.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC	OMIM	55	pfam00046	4758090,NP_004378
1482	260898752	Disease	p.Lys183Glu	600584.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC	OMIM	No Domain	N/A	NULL
1482	260898750	Disease	p.Lys183Glu	600584.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600584	ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC	OMIM	No Domain	N/A	NULL
8022	7657303	Disease	p.Tyr116Cys	600577.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600577	PITUITARY HORMONE DEFICIENCY, COMBINED, 3	OMIM	26	pfam00412	NULL
8022	7657303	Disease	p.Tyr116Cys	600577.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600577	PITUITARY HORMONE DEFICIENCY, COMBINED, 3	OMIM	33	smart00132	NULL
8022	7657303	Disease	p.Tyr116Cys	600577.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600577	PITUITARY HORMONE DEFICIENCY, COMBINED, 3	OMIM	7	COG5576	NULL
8022	12643415	Disease	p.Tyr116Cys	600577.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600577	PITUITARY HORMONE DEFICIENCY, COMBINED, 3	OMIM	31	pfam00412	30023847,NP_835258
8022	12643415	Disease	p.Tyr116Cys	600577.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600577	PITUITARY HORMONE DEFICIENCY, COMBINED, 3	OMIM	40	smart00132	30023847,NP_835258
8022	12643415	Disease	p.Tyr116Cys	600577.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600577	PITUITARY HORMONE DEFICIENCY, COMBINED, 3	OMIM	12	COG5576	30023847,NP_835258
8022	7657303	Disease	p.Ala210Val	600577.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600577	PITUITARY HORMONE DEFICIENCY, COMBINED, 3	OMIM	80	cd00086	NULL
8022	7657303	Disease	p.Ala210Val	600577.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600577	PITUITARY HORMONE DEFICIENCY, COMBINED, 3	OMIM	58	pfam00046	NULL
8022	7657303	Disease	p.Ala210Val	600577.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600577	PITUITARY HORMONE DEFICIENCY, COMBINED, 3	OMIM	88	smart00389	NULL
8022	7657303	Disease	p.Ala210Val	600577.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600577	PITUITARY HORMONE DEFICIENCY, COMBINED, 3	OMIM	101	COG5576	NULL
8022	12643415	Disease	p.Ala210Val	600577.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600577	PITUITARY HORMONE DEFICIENCY, COMBINED, 3	OMIM	93	smart00389	30023847,NP_835258
8022	12643415	Disease	p.Ala210Val	600577.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600577	PITUITARY HORMONE DEFICIENCY, COMBINED, 3	OMIM	63	pfam00046	30023847,NP_835258
8022	12643415	Disease	p.Ala210Val	600577.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600577	PITUITARY HORMONE DEFICIENCY, COMBINED, 3	OMIM	85	cd00086	30023847,NP_835258
8022	12643415	Disease	p.Ala210Val	600577.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600577	PITUITARY HORMONE DEFICIENCY, COMBINED, 3	OMIM	106	COG5576	30023847,NP_835258
2626	215274105	Disease	p.Gly296Ser	600576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600576	ATRIAL SEPTAL DEFECT 2	OMIM	35	pfam00320	33188461,NP_002043
2626	215274105	Disease	p.Gly296Ser	600576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600576	ATRIAL SEPTAL DEFECT 2	OMIM	37	smart00401	33188461,NP_002043
2626	215274105	Disease	p.Gly296Ser	600576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600576	ATRIAL SEPTAL DEFECT 2	OMIM	34	cd00202	33188461,NP_002043
2626	215274105	Disease	p.Ser52Phe	600576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600576	ATRIAL SEPTAL DEFECT 2	OMIM	66	pfam05349	33188461,NP_002043
2626	215274105	Disease	p.Gln316Glu	600576.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600576	ATRIAL SEPTAL DEFECT 2	OMIM	59	cd00202	33188461,NP_002043
2626	215274105	Disease	p.Asp425Asn	600576.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600576	ATRIAL SEPTAL DEFECT 2||TETRALOGY OF FALLOT	OMIM	No Domain	N/A	33188461,NP_002043
1181	283806622	Disease	p.Gly715Glu	600570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	NULL
1181	288558807	Disease	p.Gly715Glu	600570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	10	cd04591	156104869,NP_004357
1181	283806616	Disease	p.Gly715Glu	600570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	33	cd04591	NULL
1181	283806618	Disease	p.Gly715Glu	600570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	82	cd04591	NULL
1181	283806622	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	197	cd00400	NULL
1181	283806622	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	187	cd01036	NULL
1181	283806622	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	259	cd03684	NULL
1181	283806622	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	188	cd03685	NULL
1181	283806622	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	169	cd03683	NULL
1181	283806622	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	229	COG0038	NULL
1181	283806622	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	151	cd01033	NULL
1181	283806622	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	142	cd01034	NULL
1181	283806622	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	143_G	cd01031	NULL
1181	283806622	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	151	pfam00654	NULL
1181	288558807	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	197	cd00400	156104869,NP_004357
1181	288558807	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	187	cd01036	156104869,NP_004357
1181	288558807	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	259	cd03684	156104869,NP_004357
1181	288558807	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	188	cd03685	156104869,NP_004357
1181	288558807	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	169	cd03683	156104869,NP_004357
1181	288558807	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	229	COG0038	156104869,NP_004357
1181	288558807	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	151	cd01033	156104869,NP_004357
1181	288558807	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	142	cd01034	156104869,NP_004357
1181	288558807	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	143_G	cd01031	156104869,NP_004357
1181	288558807	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	151	pfam00654	156104869,NP_004357
1181	283806616	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	259	cd03684	NULL
1181	283806616	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	197	cd00400	NULL
1181	283806616	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	187	cd01036	NULL
1181	283806616	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	188	cd03685	NULL
1181	283806616	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	169	cd03683	NULL
1181	283806616	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	229	COG0038	NULL
1181	283806616	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	142	cd01034	NULL
1181	283806616	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	143_G	cd01031	NULL
1181	283806616	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	151	pfam00654	NULL
1181	283806618	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	198	cd01033	NULL
1181	283806618	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	237	pfam00654	NULL
1181	283806618	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	213	cd03683	NULL
1181	283806618	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	186	cd01034	NULL
1181	283806618	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	263	cd00400	NULL
1181	283806618	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	286	COG0038	NULL
1181	283806618	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	198	cd01031	NULL
1181	283806618	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	231	cd01036	NULL
1181	283806618	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	242	cd03685	NULL
1181	283806618	Disease	p.Arg235Gln	600570.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8	OMIM	316	cd03684	NULL
1181	283806622	Disease	p.Arg577Gln	600570.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11	OMIM	620	cd03685	NULL
1181	288558807	Disease	p.Arg577Gln	600570.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11	OMIM	620	cd03685	156104869,NP_004357
1181	283806616	Disease	p.Arg577Gln	600570.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11	OMIM	638	cd03685	NULL
1181	283806618	Disease	p.Arg577Gln	600570.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600570	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11	OMIM	No Domain	N/A	NULL
6772	21536301	Disease	p.Leu706Ser	600555.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600555	ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED	OMIM	No Domain	N/A	NULL
6772	2507413	Disease	p.Leu706Ser	600555.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600555	ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED	OMIM	No Domain	N/A	6274552,NP_009330
6772	21536301	Disease	p.Leu600Pro	600555.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600555	STAT1 DEFICIENCY, COMPLETE	OMIM	35	pfam00017	NULL
6772	21536301	Disease	p.Leu600Pro	600555.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600555	STAT1 DEFICIENCY, COMPLETE	OMIM	42	cd00173	NULL
6772	2507413	Disease	p.Leu600Pro	600555.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600555	STAT1 DEFICIENCY, COMPLETE	OMIM	35	pfam00017	6274552,NP_009330
6772	2507413	Disease	p.Leu600Pro	600555.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600555	STAT1 DEFICIENCY, COMPLETE	OMIM	42	cd00173	6274552,NP_009330
6772	21536301	Disease	p.Gln463His	600555.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600555	ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED	OMIM	158	pfam02864	NULL
6772	2507413	Disease	p.Gln463His	600555.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600555	ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED	OMIM	158	pfam02864	6274552,NP_009330
6772	21536301	Disease	p.Glu320Gln	600555.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600555	ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED	OMIM	4	pfam02864	NULL
6772	2507413	Disease	p.Glu320Gln	600555.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600555	ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED	OMIM	4	pfam02864	6274552,NP_009330
57216	38258849	Disease	p.Arg353Cys	600533.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600533	NEURAL TUBE DEFECT	OMIM	403	pfam06638	62955805,NP_065068
57216	38258849	Disease	p.Phe437Ser	600533.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600533	NEURAL TUBE DEFECT	OMIM	503	pfam06638	62955805,NP_065068
4729	20455499	Disease	p.Ala29Val	600532.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600532	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	222080062,NP_066552
1374	56405343	Disease	p.Asp454Gly	600528.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600528	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY	OMIM	387	pfam00755	73623030,NP_001867
1374	73623028	Disease	p.Asp454Gly	600528.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600528	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY	OMIM	387	pfam00755	NULL
1374	56405343	Disease	p.Glu360Gly	600528.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600528	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY	OMIM	260	pfam00755	73623030,NP_001867
1374	73623028	Disease	p.Glu360Gly	600528.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600528	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY	OMIM	260	pfam00755	NULL
1374	56405343	Disease	p.Ala414Val	600528.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600528	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY	OMIM	316	pfam00755	73623030,NP_001867
1374	73623028	Disease	p.Ala414Val	600528.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600528	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY	OMIM	316	pfam00755	NULL
1374	56405343	Disease	p.Tyr498Cys	600528.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600528	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY	OMIM	431	pfam00755	73623030,NP_001867
1374	73623028	Disease	p.Tyr498Cys	600528.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600528	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY	OMIM	431	pfam00755	NULL
1374	56405343	Disease	p.Gly709Glu	600528.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600528	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY	OMIM	701	pfam00755	73623030,NP_001867
1374	73623028	Disease	p.Gly709Glu	600528.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600528	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY	OMIM	701	pfam00755	NULL
1374	56405343	Disease	p.Gly710Glu	600528.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600528	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY	OMIM	702	pfam00755	73623030,NP_001867
1374	73623028	Disease	p.Gly710Glu	600528.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600528	CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY	OMIM	702	pfam00755	NULL
4891	295293175	Disease	p.Glu399Asp	600523.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	494	pfam01566	NULL
4891	295293175	Disease	p.Glu399Asp	600523.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	400	COG1914	NULL
4891	295293173	Disease	p.Glu399Asp	600523.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	494	pfam01566	NULL
4891	295293173	Disease	p.Glu399Asp	600523.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	400	COG1914	NULL
4891	295293167	Disease	p.Glu399Asp	600523.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	462	pfam01566	NULL
4891	295293167	Disease	p.Glu399Asp	600523.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	356	COG1914	NULL
4891	8247934	Disease	p.Glu399Asp	600523.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	494	pfam01566	295293169,NP_001167597|295293171,NP_001167598
4891	8247934	Disease	p.Glu399Asp	600523.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	400	COG1914	295293169,NP_001167597|295293171,NP_001167598
4891	8247934	Disease	p.Glu399Asp	600523.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	494	pfam01566	295293169,NP_001167597|295293171,NP_001167598
4891	8247934	Disease	p.Glu399Asp	600523.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	400	COG1914	295293169,NP_001167597|295293171,NP_001167598
4891	295293178	Disease	p.Glu399Asp	600523.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	499	pfam01566	NULL
4891	295293178	Disease	p.Glu399Asp	600523.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	404	COG1914	NULL
4891	10835169	Disease	p.Glu399Asp	600523.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	494	pfam01566	NULL
4891	10835169	Disease	p.Glu399Asp	600523.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	400	COG1914	NULL
4891	295293175	Disease	p.Arg416Cys	600523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	515	pfam01566	NULL
4891	295293175	Disease	p.Arg416Cys	600523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	417	COG1914	NULL
4891	295293173	Disease	p.Arg416Cys	600523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	515	pfam01566	NULL
4891	295293173	Disease	p.Arg416Cys	600523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	417	COG1914	NULL
4891	295293167	Disease	p.Arg416Cys	600523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	482	pfam01566	NULL
4891	295293167	Disease	p.Arg416Cys	600523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	373	COG1914	NULL
4891	8247934	Disease	p.Arg416Cys	600523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	515	pfam01566	295293169,NP_001167597|295293171,NP_001167598
4891	8247934	Disease	p.Arg416Cys	600523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	417	COG1914	295293169,NP_001167597|295293171,NP_001167598
4891	8247934	Disease	p.Arg416Cys	600523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	515	pfam01566	295293169,NP_001167597|295293171,NP_001167598
4891	8247934	Disease	p.Arg416Cys	600523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	417	COG1914	295293169,NP_001167597|295293171,NP_001167598
4891	295293178	Disease	p.Arg416Cys	600523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	519	pfam01566	NULL
4891	295293178	Disease	p.Arg416Cys	600523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	421	COG1914	NULL
4891	10835169	Disease	p.Arg416Cys	600523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	515	pfam01566	NULL
4891	10835169	Disease	p.Arg416Cys	600523.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	417	COG1914	NULL
4891	295293175	Disease	p.Gly212Val	600523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	195	pfam01566	NULL
4891	295293175	Disease	p.Gly212Val	600523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	166	COG1914	NULL
4891	295293173	Disease	p.Gly212Val	600523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	195	pfam01566	NULL
4891	295293173	Disease	p.Gly212Val	600523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	166	COG1914	NULL
4891	295293167	Disease	p.Gly212Val	600523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	153	pfam01566	NULL
4891	295293167	Disease	p.Gly212Val	600523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	131	COG1914	NULL
4891	8247934	Disease	p.Gly212Val	600523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	195	pfam01566	295293169,NP_001167597|295293171,NP_001167598
4891	8247934	Disease	p.Gly212Val	600523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	166	COG1914	295293169,NP_001167597|295293171,NP_001167598
4891	8247934	Disease	p.Gly212Val	600523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	195	pfam01566	295293169,NP_001167597|295293171,NP_001167598
4891	8247934	Disease	p.Gly212Val	600523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	166	COG1914	295293169,NP_001167597|295293171,NP_001167598
4891	295293178	Disease	p.Gly212Val	600523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	199	pfam01566	NULL
4891	295293178	Disease	p.Gly212Val	600523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	170	COG1914	NULL
4891	10835169	Disease	p.Gly212Val	600523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	195	pfam01566	NULL
4891	10835169	Disease	p.Gly212Val	600523.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600523	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	OMIM	166	COG1914	NULL
5321	1352707	Disease	p.Ser111Pro	600522.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600522	PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF	OMIM	254	cd00275	23943920,NP_077734
5321	1352707	Disease	p.Ser111Pro	600522.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600522	PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF	OMIM	100	cd04044	23943920,NP_077734
5321	1352707	Disease	p.Ser111Pro	600522.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600522	PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF	OMIM	102	cd04043	23943920,NP_077734
5321	1352707	Disease	p.Ser111Pro	600522.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600522	PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF	OMIM	96	cd04024	23943920,NP_077734
5321	1352707	Disease	p.Ser111Pro	600522.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600522	PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF	OMIM	98	cd08391	23943920,NP_077734
5321	1352707	Disease	p.Ser111Pro	600522.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600522	PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF	OMIM	122	cd04035	23943920,NP_077734
5321	1352707	Disease	p.Ser111Pro	600522.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600522	PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF	OMIM	147	cd00276	23943920,NP_077734
5321	1352707	Disease	p.Ser111Pro	600522.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600522	PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF	OMIM	396	cd00030	23943920,NP_077734
5321	1352707	Disease	p.Ser111Pro	600522.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600522	PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF	OMIM	96	cd04036	23943920,NP_077734
5321	1352707	Disease	p.Ser111Pro	600522.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600522	PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF	OMIM	359	smart00239	23943920,NP_077734
5321	1352707	Disease	p.Arg485His	600522.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600522	PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF	OMIM	372	cd07202	23943920,NP_077734
5321	1352707	Disease	p.Arg485His	600522.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600522	PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF	OMIM	332	cd07201	23943920,NP_077734
5321	1352707	Disease	p.Arg485His	600522.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600522	PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF	OMIM	391	cd07200	23943920,NP_077734
5321	1352707	Disease	p.Arg485His	600522.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600522	PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF	OMIM	522	cd00147	23943920,NP_077734
5321	1352707	Disease	p.Arg485His	600522.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600522	PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF	OMIM	336	pfam01735	23943920,NP_077734
5321	1352707	Disease	p.Arg485His	600522.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600522	PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF	OMIM	461	cd07203	23943920,NP_077734
5321	1352707	Disease	p.Arg485His	600522.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600522	PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF	OMIM	438	cd01819	23943920,NP_077734
5321	1352707	Disease	p.Arg485His	600522.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600522	PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF	OMIM	433	smart00022	23943920,NP_077734
64805	21263835	Disease	p.Arg256Gln	600515.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600515	BLEEDING DISORDER DUE TO P2RY12 DEFECT	OMIM	386	pfam00001	29029605,NP_795345|12232483,NP_073625
64805	21263835	Disease	p.Arg256Gln	600515.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600515	BLEEDING DISORDER DUE TO P2RY12 DEFECT	OMIM	386	pfam00001	29029605,NP_795345|12232483,NP_073625
64805	21263835	Disease	p.Arg265Trp	600515.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600515	BLEEDING DISORDER DUE TO P2RY12 DEFECT	OMIM	395	pfam00001	29029605,NP_795345|12232483,NP_073625
64805	21263835	Disease	p.Arg265Trp	600515.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600515	BLEEDING DISORDER DUE TO P2RY12 DEFECT	OMIM	395	pfam00001	29029605,NP_795345|12232483,NP_073625
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	93	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	42	COG4598	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	65	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	53	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	39	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	44	COG1120	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	54	COG1118	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	38	cd03295	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	64	cd03263	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	38	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	60	cd03259	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	59	cd03301	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	56	cd03233	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	38	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	70	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	108	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	60	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	43	cd03293	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	42	COG4133	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	60	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	49	cd03255	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	38	cd03261	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	65	cd03294	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	39	cd03296	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	38	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	37	COG4559	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	53	COG3842	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	70	COG4175	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	38	cd03292	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	39	cd03256	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	42	COG3638	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	39	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	45	COG1116	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	46	cd03297	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	37	COG4604	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	53	COG1136	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	47	COG4525	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	42	COG1125	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	44	COG1135	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	52	cd03213	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	35	COG3840	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	35	cd03299	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	34	cd03298	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	1216	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	48	COG4181	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	73	cd03291	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	39	COG4136	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	39	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	42	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	43	COG1121	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	61	COG4608	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	45	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	36	cd03265	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	50	cd03234	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	57	COG1127	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	53	COG1129	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	67	cd03215	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	45	cd03238	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	46	COG0444	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	52	cd03223	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	41	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	62	COG3839	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	38	cd03235	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	40	cd03300	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	36	cd03231	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	13	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	600509.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	31	cd03271	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	13	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	13	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	13	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	15	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	13	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	375	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	21	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	9	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	9	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	9	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	9	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	1071	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	363	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	292	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	275	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	343	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	340	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	87	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	16	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	11	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	12	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	14	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	11	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	11	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	11	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	465	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	62	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	11	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	16	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	11	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	11	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	11_G	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	10	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	549	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	12	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	12	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	12	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	12	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	12	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	17	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Arg1353Pro	600509.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	17	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	417	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	99	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	106	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	110	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	89	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	447	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	90	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	223	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	114	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	101	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	137	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	1266	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	431	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	374	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	342	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	55	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	412	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	413	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	155	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	92	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	84	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	82	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	85	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	123	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	93	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	249	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	79	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	564	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	132	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	82	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	89	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	80	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	93	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	100	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	89	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	99	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	120	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	79	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	89	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	78	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	81	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	79	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	90	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	197	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	161	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	118	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	88	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	75	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	81	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	103	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	93	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	97	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	156	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	79	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	83	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	76	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	618	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	79	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	101	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	82	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	91	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	79	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	82	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Arg1421Cys	600509.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	99	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	494	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	263	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	223	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	217	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	173	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	521	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	178	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	1287	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	189	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	170	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	219	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	1398	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	506	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	449	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	416	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	265	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	487	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	477	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	228	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	260	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	190	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	152	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	156	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	212	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	165	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	423	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	151	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	692	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	219	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	162	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	163	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	151	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	180	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	184	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	169	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	170	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	183	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	150	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	160	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	158	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	172	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	164	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	165	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	318	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	265	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	198	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	264	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	145	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	155	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	181	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	165	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	172	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	280	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	153	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	190	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	155	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	693	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	169	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	173	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	156	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	198	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	155	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	160	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Arg1494Trp	600509.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	187	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	512	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	275	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	235	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	229	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	185	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	533	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	190	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	1313	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	201	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	182	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	239	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	1412	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	519	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	461	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	428	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	280	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	500	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	489	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	240	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	315	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	202	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	164	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	168	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	225	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	177	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	435	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	163	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	704	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	231	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	174	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	175	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	163	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	192	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	202	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	182	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	182	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	193	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	162	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	172	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	170	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	184	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	176	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	177	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	332	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	277	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	210	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	277	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	164	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	167	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	195	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	177	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	184	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	292	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	165	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	202	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	170	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	705	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	181	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	185	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	168	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	212	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	167	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	175	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	600509.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	199	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	13	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	13	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	13	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	15	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	13	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	375	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	21	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	9	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	9	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	9	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	9	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	1071	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	363	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	292	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	275	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	343	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	340	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	87	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	16	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	11	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	12	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	14	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	11	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	11	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	11	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	465	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	62	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	11	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	16	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	11	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	11	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	11_G	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	10	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	549	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	12	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	12	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	12	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	12	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	12	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	17	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Arg1353His	600509.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY	OMIM	17	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Val187Asp	600509.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1	OMIM	No Domain	N/A	118582255,NP_000343
6833	311033501	Disease	p.Phe132Leu	600509.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES	OMIM	No Domain	N/A	118582255,NP_000343
6833	311033501	Disease	p.Leu213Arg	600509.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	No Domain	N/A	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	420	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	102	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	109	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	113	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	92	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	450	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	93	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	226	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	117	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	104	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	140	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	1270	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	434	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	377	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	345	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	58	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	415	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	416	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	158	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	95	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	87	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	85	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	88	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	126	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	96	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	252	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	82	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	567	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	135	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	85	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	92	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	83	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	96	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	103	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	92	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	102	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	123	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	82	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	90_G	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	81	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	84	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	82	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	93	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	200	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	164	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	121	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	91	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	78	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	84	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	106	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	96	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	100	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	159	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	82	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	86	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	80	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	621	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	82	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	104	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	85	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	94	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	82	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	87	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	600509.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	102	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	43	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	48	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	46	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	39	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	38	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	405	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	48	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	91	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	51	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	36	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	50	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	1214	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	389	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	329	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	300	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	369	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	371	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	113	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	10	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	42	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	37	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	36	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	63	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	42	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	51	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	37	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	510	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	86	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	40	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	47	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	39	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	38	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	44	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	36	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	55	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	76	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	35	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	48	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	36	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	39	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	36	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	36	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	68	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	106	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	58	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	40	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	33	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	39	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	58	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	36	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	55	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	37	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	37	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	36	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	34	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	576	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	38	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	46	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	40	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	40	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	37	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	41	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	600509.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	45	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Leu582Val	600509.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	841	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Leu582Val	600509.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, TRANSIENT NEONATAL, 2||DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	371	pfam00664	118582255,NP_000343
6833	311033501	Disease	p.Asn72Ser	600509.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	No Domain	N/A	118582255,NP_000343
6833	311033501	Disease	p.Glu382Lys	600509.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	301	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Glu382Lys	600509.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	130	pfam00664	118582255,NP_000343
6833	311033501	Disease	p.Ala1185Glu	600509.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	109	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Ala1185Glu	600509.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	599	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Ala1185Glu	600509.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	194	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Ala1185Glu	600509.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	84	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Ala1185Glu	600509.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	105	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Ala1185Glu	600509.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	244	pfam00664	118582255,NP_000343
6833	311033501	Disease	p.Ala1185Glu	600509.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	167	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Ala1185Glu	600509.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	171_G	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Ala1185Glu	600509.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	3	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Ala1185Glu	600509.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	359	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Pro45Leu	600509.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	No Domain	N/A	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	228	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	71	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	70	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	61	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	63	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	427	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	70	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	152	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	79	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	59	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	75	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	1240	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	411	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	351	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	322	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	23	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	392	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	393	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	135	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	65	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	64	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	59	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	60	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	88	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	64	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	87	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	59	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	533	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	109	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	62	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	69	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	61	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	66	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	71	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	63	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	78	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	98	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	57	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	70	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	58	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	61	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	60	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	58	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	108	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	132	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	85	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	66	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	54	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	61	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	80	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	58	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	77	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	88	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	59	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	58	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	57	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	598	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	59	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	68	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	62	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	65	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	59	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	63	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Gly1401Arg	600509.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	73	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Val86Gly	600509.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600509	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	No Domain	N/A	118582255,NP_000343
3508	119392094	Disease	p.Glu514Lys	600502.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600502	DISTAL SPINAL MUSCULAR ATROPHY, AUTSOMAL RECESSIVE, 1	OMIM	857	COG1112	NULL
3508	119392094	Disease	p.His213Arg	600502.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600502	DISTAL SPINAL MUSCULAR ATROPHY, AUTSOMAL RECESSIVE, 1	OMIM	8	smart00382	NULL
3508	119392094	Disease	p.His213Arg	600502.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600502	DISTAL SPINAL MUSCULAR ATROPHY, AUTSOMAL RECESSIVE, 1	OMIM	6	cd00046	NULL
3508	119392094	Disease	p.His213Arg	600502.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600502	DISTAL SPINAL MUSCULAR ATROPHY, AUTSOMAL RECESSIVE, 1	OMIM	128	smart00487	NULL
3508	119392094	Disease	p.His213Arg	600502.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600502	DISTAL SPINAL MUSCULAR ATROPHY, AUTSOMAL RECESSIVE, 1	OMIM	413	COG1112	NULL
3508	119392094	Disease	p.Val580Ile	600502.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600502	DISTAL SPINAL MUSCULAR ATROPHY, AUTSOMAL RECESSIVE, 1	OMIM	960	COG1112	NULL
3508	119392094	Disease	p.Phe369Leu	600502.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600502	DISTAL SPINAL MUSCULAR ATROPHY, AUTSOMAL RECESSIVE, 1	OMIM	306	smart00382	NULL
3508	119392094	Disease	p.Phe369Leu	600502.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600502	DISTAL SPINAL MUSCULAR ATROPHY, AUTSOMAL RECESSIVE, 1	OMIM	405	cd00046	NULL
3508	119392094	Disease	p.Phe369Leu	600502.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600502	DISTAL SPINAL MUSCULAR ATROPHY, AUTSOMAL RECESSIVE, 1	OMIM	959	smart00487	NULL
3508	119392094	Disease	p.Phe369Leu	600502.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600502	DISTAL SPINAL MUSCULAR ATROPHY, AUTSOMAL RECESSIVE, 1	OMIM	669	COG1112	NULL
2253	1706791	Disease	p.His14Asn	600483.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	15147348,NP_149354
2253	15147346	Disease	p.His14Asn	600483.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2253	15147350	Disease	p.His14Asn	600483.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2253	5174439	Disease	p.His14Asn	600483.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2253	1706791	Disease	p.Pro26Leu	600483.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	KALLMANN SYNDROME 6	OMIM	No Domain	N/A	15147348,NP_149354
2253	15147346	Disease	p.Pro26Leu	600483.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	KALLMANN SYNDROME 6	OMIM	No Domain	N/A	NULL
2253	15147350	Disease	p.Pro26Leu	600483.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	KALLMANN SYNDROME 6	OMIM	No Domain	N/A	NULL
2253	5174439	Disease	p.Pro26Leu	600483.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	KALLMANN SYNDROME 6	OMIM	No Domain	N/A	NULL
2253	1706791	Disease	p.Phe40Leu	600483.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	15147348,NP_149354
2253	15147346	Disease	p.Phe40Leu	600483.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2253	15147350	Disease	p.Phe40Leu	600483.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	smart00442	NULL
2253	5174439	Disease	p.Phe40Leu	600483.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2253	1706791	Disease	p.Lys100Glu	600483.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	49	pfam00167	15147348,NP_149354
2253	1706791	Disease	p.Lys100Glu	600483.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	42	cd00058	15147348,NP_149354
2253	1706791	Disease	p.Lys100Glu	600483.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	50	smart00442	15147348,NP_149354
2253	15147346	Disease	p.Lys100Glu	600483.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	29	pfam00167	NULL
2253	15147346	Disease	p.Lys100Glu	600483.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	31	cd00058	NULL
2253	15147346	Disease	p.Lys100Glu	600483.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	35	smart00442	NULL
2253	15147350	Disease	p.Lys100Glu	600483.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	smart00442	NULL
2253	15147350	Disease	p.Lys100Glu	600483.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	71	cd00058	NULL
2253	15147350	Disease	p.Lys100Glu	600483.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	pfam00167	NULL
2253	5174439	Disease	p.Lys100Glu	600483.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	74	pfam00167	NULL
2253	5174439	Disease	p.Lys100Glu	600483.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	69	smart00442	NULL
2253	5174439	Disease	p.Lys100Glu	600483.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	60	cd00058	NULL
2253	1706791	Disease	p.Arg127Gly	600483.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	KALLMANN SYNDROME 6||HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	pfam00167	15147348,NP_149354
2253	1706791	Disease	p.Arg127Gly	600483.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	KALLMANN SYNDROME 6||HYPOGONADOTROPIC HYPOGONADISM	OMIM	69	cd00058	15147348,NP_149354
2253	1706791	Disease	p.Arg127Gly	600483.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	KALLMANN SYNDROME 6||HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	smart00442	15147348,NP_149354
2253	15147346	Disease	p.Arg127Gly	600483.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	KALLMANN SYNDROME 6||HYPOGONADOTROPIC HYPOGONADISM	OMIM	72	pfam00167	NULL
2253	15147346	Disease	p.Arg127Gly	600483.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	KALLMANN SYNDROME 6||HYPOGONADOTROPIC HYPOGONADISM	OMIM	58	cd00058	NULL
2253	15147346	Disease	p.Arg127Gly	600483.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	KALLMANN SYNDROME 6||HYPOGONADOTROPIC HYPOGONADISM	OMIM	67	smart00442	NULL
2253	15147350	Disease	p.Arg127Gly	600483.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	KALLMANN SYNDROME 6||HYPOGONADOTROPIC HYPOGONADISM	OMIM	114	smart00442	NULL
2253	15147350	Disease	p.Arg127Gly	600483.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	KALLMANN SYNDROME 6||HYPOGONADOTROPIC HYPOGONADISM	OMIM	102	cd00058	NULL
2253	15147350	Disease	p.Arg127Gly	600483.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	KALLMANN SYNDROME 6||HYPOGONADOTROPIC HYPOGONADISM	OMIM	139	pfam00167	NULL
2253	5174439	Disease	p.Arg127Gly	600483.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	KALLMANN SYNDROME 6||HYPOGONADOTROPIC HYPOGONADISM	OMIM	127	pfam00167	NULL
2253	5174439	Disease	p.Arg127Gly	600483.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	KALLMANN SYNDROME 6||HYPOGONADOTROPIC HYPOGONADISM	OMIM	103	smart00442	NULL
2253	5174439	Disease	p.Arg127Gly	600483.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	KALLMANN SYNDROME 6||HYPOGONADOTROPIC HYPOGONADISM	OMIM	91	cd00058	NULL
2253	1706791	Disease	p.Thr229Met	600483.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	15147348,NP_149354
2253	15147346	Disease	p.Thr229Met	600483.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2253	15147350	Disease	p.Thr229Met	600483.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2253	5174439	Disease	p.Thr229Met	600483.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600483	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	151	cd05115	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	171_G	cd07843	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	208	cd07833	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	172	cd07837	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	220	cd05057	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	170	cd06657	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	170	cd06647	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	279	cd05104	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	156	cd05113	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	155	cd05114	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	200	cd05043	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	151_G	cd05083	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	164	cd05034	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	165	cd05079	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	155	cd05112	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	198	cd05033	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	164	cd05066	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	188	cd05038	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	164	cd05065	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	157	cd05059	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	180	cd06616	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	219	cd05032	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	161	cd05039	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	278	pfam00069	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	182	cd05075	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	168	cd05074	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	178	cd05035	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	719	smart00221	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	523	smart00219	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	333	pfam07714	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	165	cd08530	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	164	cd06644	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	176	cd05088	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	160	cd06611	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	164	cd05111	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	166	cd05109	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	166	cd05108	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	164	cd05110	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	294	cd05055	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	160	cd08229	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	178	cd06605	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	160	cd08228	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	161	cd06625	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	163	cd06629	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	206	cd05580	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	171	cd05089	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	174	cd06621	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	204	cd06623	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	180_G	cd07835	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	179_G	cd06609	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	156	cd05612	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	158	cd06615	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	172	cd06622	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	271	cd05581	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	172	cd06619	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	725	COG0515	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	164_G	cd06617	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	166	cd07831	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	192	cd05101	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	157	cd05071	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	163	cd05080	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	175	cd05061	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	158	cd05052	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	161	cd06645	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	166	cd05063	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	164	cd05081	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	163	cd05064	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	177	cd05092	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	174	cd05062	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	187	cd05049	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	220	cd05051	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	222	cd05096	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	186	cd05097	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	241	cd05046	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	188	cd05050	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	196	cd05095	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	178	cd05094	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	175	cd05093	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	162	cd05068	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	179	cd05090	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	157	cd05067	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	158	cd05073	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	179	cd05091	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	182	cd05048	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	156_G	cd05082	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	157	cd05069	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	157	cd05070	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	157	cd05072	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	233	cd05102	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	284	cd05054	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	161	cd06646	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	235	cd05103	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	160	cd07870	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	159	cd07871	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	161	cd07844	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	162	cd06620	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	719	cd05123	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	164	cd05047	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	170	cd06612	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	148	cd05085	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	151_G	cd05608	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	158	cd05577	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	455	cd00180	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	229	cd05572	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	240	cd05579	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	159	cd06631	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	189	cd06639	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	297	cd05107	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	295	cd05105	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	183	cd07855	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	178	cd06638	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	195	cd05098	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	169	cd06624	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	189	cd07851	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	172	cd07864	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	185	cd07866	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	198	cd06608	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	158	cd06626	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	167	cd06610	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	198	cd05122	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	236	cd08217	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	185	cd06652	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	178	cd05574	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	163	cd07857	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	161	cd06653	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	163	cd07863	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	265	cd07842	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	164	cd05148	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	165	cd08224	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	152_G	cd07839	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	165	cd07849	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	178_G	cd05076	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	202	cd06614	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	170	cd07856	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	176	cd07845	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	160	cd07872	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	156	cd06640	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	156	cd06641	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	162	cd07846	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	163	cd07847	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	156	cd06642	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	158	cd06613	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	155	cd05582	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	168	cd06917	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	219	cd07829	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	277	cd05106	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	171	cd06659	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	169	cd06634	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	610	smart00220	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	156_G	cd07836	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	159_G	cd08529	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	176	cd05613	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	157	cd05605	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	167	cd08220	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	157	cd08218	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	162	cd08222	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	172	cd07841	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	156	cd08223	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	233	cd08215	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	161	cd06651	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	179	cd08528	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	161	cd05583	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	182	cd05045	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	252	cd07834	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	155_G	cd07861	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	153_G	cd07860	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	161	cd05578	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	155	cd08219	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	158	cd08225	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	245	cd06606	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	163	cd06628	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	165	cd06627	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	174	cd07832	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	189	cd05100	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	189	cd05099	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	170	cd06648	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	164	cd07852	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	192	cd05056	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	177	cd05036	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	166_G	cd05077	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	159	cd06630	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	165	cd05078	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	375	cd00192	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	184	cd05037	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	151	cd05116	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	158	cd05060	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	150_G	cd05619	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	149	cd05084	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	160	cd05087	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	155	cd05086	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	158	cd05042	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	164	cd05040	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	172	cd05044	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	151	cd05041	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	156	cd08221	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	160	cd05058	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	148_G	cd05570	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	168	cd05118	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	179	cd06632	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	166	cd05592	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	205	cd05053	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	157	cd06643	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	218	cd07840	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	235	cd07830	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	215	cd05573	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	158	cd08216	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	204	cd07838	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	178	cd07865	NULL
4915	21361306	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	175	cd06618	NULL
4915	65506779	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	No Domain	N/A	NULL
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	198	cd05075	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	184	cd05074	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	194	cd05035	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	772	smart00221	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	298	pfam00069	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	556	smart00219	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	354	pfam07714	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	177	cd08530	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	186	cd06659	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	221	cd05053	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	172	cd06643	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	295	cd05104	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	193	cd06618	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	199	cd07865	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	179	cd08220	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	170	cd08218	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	175	cd08222	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	196	cd07841	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	171	cd08223	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	172	cd07836	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	175	cd08529	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	237	cd08215	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	178	cd06651	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	192	cd08528	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	198	cd05045	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	256	cd07834	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	176	cd05583	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	188	cd05613	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	170	cd05605	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	169	cd08219	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	171	cd08225	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	285	cd06606	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	185	cd06628	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	212	cd06627	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	171	cd07861	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	169	cd07860	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	175	cd05578	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	191	cd07832	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	709	smart00220	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	208	cd05101	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	313	cd05107	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	311	cd05105	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	205	cd05100	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	205	cd05099	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	185	cd06648	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	174	cd05052	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	175	cd06645	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	180	cd05063	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	180	cd05081	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	178	cd05064	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	172	cd05071	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	179	cd05080	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	193	cd05092	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	190	cd05062	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	203	cd05049	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	241	cd05051	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	238	cd05096	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	202	cd05097	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	256	cd05046	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	204	cd05050	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	212	cd05095	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	173	cd06620	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	249	cd05102	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	300	cd05054	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	175	cd06646	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	251	cd05103	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	201	cd05094	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	191	cd05093	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	191	cd05061	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	173	cd07844	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	178	cd05068	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	195	cd05090	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	172	cd05067	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	173	cd05073	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	195	cd05091	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	198	cd05048	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	168	cd05082	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	172	cd05069	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	172	cd05070	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	173	cd05072	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	172	cd07870	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	172	cd07871	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	185	cd06657	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	234	cd05057	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	184	cd06647	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	293	cd05106	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	180	cd06634	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	171	cd05113	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	170	cd05114	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	181	cd05079	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	170	cd05112	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	214	cd05033	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	178	cd05066	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	204	cd05038	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	180	cd05065	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	172	cd05059	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	189	cd06616	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	235	cd05032	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	216	cd05043	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	166	cd05083	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	183	cd05034	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	175	cd05039	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	193	cd06638	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	206	cd07855	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	170	cd06640	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	170	cd06641	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	171	cd07846	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	176	cd07847	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	173	cd07872	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	172	cd06613	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	170	cd06642	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	197	cd07852	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	193	cd05036	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	208	cd05056	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	223	cd06623	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	178	cd06621	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	175	cd08229	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	188	cd06605	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	175	cd08228	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	178	cd06625	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	182	cd06629	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	183	cd06619	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	806	COG0515	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	173	cd06617	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	175	cd07831	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	230	cd05580	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	187	cd05089	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	169	cd06615	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	189	cd06622	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	406	cd05581	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	196	cd07835	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	198	cd06609	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	167	cd05612	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	712	cd05579	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	738	cd05123	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	164	cd05085	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	180	cd05047	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	185	cd06612	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	240	cd05572	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	166	cd05608	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	169	cd05577	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	179	cd06631	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	629	cd00180	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	189	cd07864	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	183	cd06624	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	203	cd07851	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	218	cd07866	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	204	cd06639	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	188	cd07837	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	167	cd05115	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	235_G	cd07833	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	190	cd07843	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	179	cd07863	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	244	cd05574	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	178	cd06653	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	176	cd08224	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	193	cd07849	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	202	cd06652	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	320	cd07842	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	186	cd07857	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	175	cd05148	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	168	cd07839	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	167	cd05582	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	223	cd07829	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	182	cd06917	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	167	cd05116	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	174	cd05060	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	165	cd05084	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	176	cd05087	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	171	cd05086	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	175	cd05042	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	182	cd05040	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	188	cd05044	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	167	cd05041	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	181	cd05592	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	178	cd05058	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	177	cd05077	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	178	cd06630	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	175	cd05078	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	400	cd00192	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	194	cd05037	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	167	cd05570	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	181	cd05118	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	191	cd06632	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	173	cd08221	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	165	cd05619	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	211	cd05098	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	212	cd06608	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	240	cd08217	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	204	cd06626	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	191	cd06610	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	209	cd05122	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	174	cd07856	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	192	cd07845	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	189	cd05076	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	223	cd06614	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	179	cd06644	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	192	cd05088	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	174	cd06611	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	180	cd05111	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	180	cd05109	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	180	cd05108	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	180	cd05110	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	218	cd07838	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	270_G	cd07840	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	244	cd07830	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	180	cd08216	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	307	cd05573	65506745,NP_001018074
4915	2497560	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	310	cd05055	65506745,NP_001018074
4915	65506769	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	No Domain	N/A	NULL
4915	55956790	Disease	p.Tyr722Cys	600456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600456	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	OMIM	No Domain	N/A	NULL
2651	74714686	Disease	p.Gly348Glu	600429.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600429	ADULT i BLOOD GROUP WITH CONGENITAL CATARACT	OMIM	360	pfam02485	21717810,NP_663624
2651	543887	Disease	p.Gly348Glu	600429.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600429	ADULT i BLOOD GROUP WITH CONGENITAL CATARACT	OMIM	362	pfam02485	4503963,NP_001482
2651	298351849	Disease	p.Gly348Glu	600429.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600429	ADULT i BLOOD GROUP WITH CONGENITAL CATARACT	OMIM	360	pfam02485	85790495,NP_663630
2651	74714686	Disease	p.Arg383His	600429.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600429	ADULT i BLOOD GROUP WITH CONGENITAL CATARACT	OMIM	No Domain	N/A	21717810,NP_663624
2651	543887	Disease	p.Arg383His	600429.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600429	ADULT i BLOOD GROUP WITH CONGENITAL CATARACT	OMIM	No Domain	N/A	4503963,NP_001482
2651	298351849	Disease	p.Arg383His	600429.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600429	ADULT i BLOOD GROUP WITH CONGENITAL CATARACT	OMIM	No Domain	N/A	85790495,NP_663630
2651	74714686	Disease	p.Ala169Thr	600429.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600429	ADULT i BLOOD GROUP WITHOUT CONGENITAL CATARACT	OMIM	86	pfam02485	21717810,NP_663624
2651	543887	Disease	p.Ala169Thr	600429.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600429	ADULT i BLOOD GROUP WITHOUT CONGENITAL CATARACT	OMIM	88	pfam02485	4503963,NP_001482
2651	298351849	Disease	p.Ala169Thr	600429.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600429	ADULT i BLOOD GROUP WITHOUT CONGENITAL CATARACT	OMIM	86	pfam02485	85790495,NP_663630
2651	74714686	Disease	p.Arg228Gln	600429.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600429	ADULT i BLOOD GROUP WITHOUT CONGENITAL CATARACT	OMIM	147	pfam02485	21717810,NP_663624
2651	543887	Disease	p.Arg228Gln	600429.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600429	ADULT i BLOOD GROUP WITHOUT CONGENITAL CATARACT	OMIM	149	pfam02485	4503963,NP_001482
2651	298351849	Disease	p.Arg228Gln	600429.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600429	ADULT i BLOOD GROUP WITHOUT CONGENITAL CATARACT	OMIM	147	pfam02485	85790495,NP_663630
1889	164519136	Disease	p.Arg742Cys	600423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600423	HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION	OMIM	700	COG3590	NULL
1889	164519136	Disease	p.Arg742Cys	600423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600423	HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION	OMIM	238	pfam01431	NULL
1889	1706563	Disease	p.Arg742Cys	600423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600423	HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION	OMIM	687	COG3590	4503443,NP_001388
1889	1706563	Disease	p.Arg742Cys	600423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600423	HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION	OMIM	226	pfam01431	4503443,NP_001388
1889	164519138	Disease	p.Arg742Cys	600423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600423	HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION	OMIM	704	COG3590	NULL
1889	164519138	Disease	p.Arg742Cys	600423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600423	HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION	OMIM	242	pfam01431	NULL
1889	164519140	Disease	p.Arg742Cys	600423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600423	HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION	OMIM	229	pfam01431	NULL
1889	164519140	Disease	p.Arg742Cys	600423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600423	HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION	OMIM	690	COG3590	NULL
7274	1351322	Disease	p.His101Gln	600415.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600415	ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY	OMIM	10	smart00516	4507723,NP_000361
7274	1351322	Disease	p.His101Gln	600415.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600415	ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY	OMIM	14	cd00170	4507723,NP_000361
7274	1351322	Disease	p.Arg192His	600415.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600415	ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY	OMIM	225	smart00516	4507723,NP_000361
7274	1351322	Disease	p.Arg192His	600415.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600415	ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY	OMIM	160	cd00170	4507723,NP_000361
7274	1351322	Disease	p.Arg192His	600415.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600415	ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY	OMIM	142	pfam00650	4507723,NP_000361
5830	196259770	Disease	p.Asn489Lys	600414.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600414	ADRENOLEUKODYSTROPHY, NEONATAL	OMIM	512	COG0457	NULL
5830	119364633	Disease	p.Asn489Lys	600414.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600414	ADRENOLEUKODYSTROPHY, NEONATAL	OMIM	612	COG0457	196259776,NP_001124498|196259774,NP_001124497
5830	119364633	Disease	p.Asn489Lys	600414.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600414	ADRENOLEUKODYSTROPHY, NEONATAL	OMIM	2	smart00028	196259776,NP_001124498|196259774,NP_001124497
5830	119364633	Disease	p.Asn489Lys	600414.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600414	ADRENOLEUKODYSTROPHY, NEONATAL	OMIM	2	pfam00515	196259776,NP_001124498|196259774,NP_001124497
5830	119364633	Disease	p.Asn489Lys	600414.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600414	ADRENOLEUKODYSTROPHY, NEONATAL	OMIM	612	COG0457	196259776,NP_001124498|196259774,NP_001124497
5830	119364633	Disease	p.Asn489Lys	600414.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600414	ADRENOLEUKODYSTROPHY, NEONATAL	OMIM	2	smart00028	196259776,NP_001124498|196259774,NP_001124497
5830	119364633	Disease	p.Asn489Lys	600414.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600414	ADRENOLEUKODYSTROPHY, NEONATAL	OMIM	2	pfam00515	196259776,NP_001124498|196259774,NP_001124497
5830	196259772	Disease	p.Asn489Lys	600414.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600414	ADRENOLEUKODYSTROPHY, NEONATAL	OMIM	773	COG0457	NULL
5830	196259772	Disease	p.Asn489Lys	600414.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600414	ADRENOLEUKODYSTROPHY, NEONATAL	OMIM	66	cd00189	NULL
5830	196259772	Disease	p.Asn489Lys	600414.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600414	ADRENOLEUKODYSTROPHY, NEONATAL	OMIM	5	smart00028	NULL
5830	196259772	Disease	p.Asn489Lys	600414.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600414	ADRENOLEUKODYSTROPHY, NEONATAL	OMIM	5	pfam07719	NULL
5830	196259772	Disease	p.Asn489Lys	600414.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600414	ADRENOLEUKODYSTROPHY, NEONATAL	OMIM	5	pfam00515	NULL
5830	21361204	Disease	p.Asn489Lys	600414.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600414	ADRENOLEUKODYSTROPHY, NEONATAL	OMIM	9	cd00189	NULL
5830	21361204	Disease	p.Asn489Lys	600414.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600414	ADRENOLEUKODYSTROPHY, NEONATAL	OMIM	620	COG0457	NULL
5830	21361204	Disease	p.Asn489Lys	600414.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600414	ADRENOLEUKODYSTROPHY, NEONATAL	OMIM	11	smart00028	NULL
5830	21361204	Disease	p.Asn489Lys	600414.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600414	ADRENOLEUKODYSTROPHY, NEONATAL	OMIM	10	pfam00515	NULL
585	160359000	Disease	p.Arg295Pro	600374.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600374	BARDET-BIEDL SYNDROME 4	OMIM	177	cd00189	25952122,NP_149017
585	160359000	Disease	p.Arg295Pro	600374.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600374	BARDET-BIEDL SYNDROME 4	OMIM	692	COG0457	25952122,NP_149017
585	160359000	Disease	p.Arg295Pro	600374.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600374	BARDET-BIEDL SYNDROME 4	OMIM	26	pfam00515	25952122,NP_149017
585	160359000	Disease	p.Ala364Glu	600374.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600374	BARDET-BIEDL SYNDROME 4	OMIM	116	cd00189	25952122,NP_149017
585	160359000	Disease	p.Ala364Glu	600374.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600374	BARDET-BIEDL SYNDROME 4	OMIM	972	COG0457	25952122,NP_149017
5250	4505775	Disease	p.Gly72Glu	600370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600370	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY	OMIM	13	pfam00153	NULL
5250	730052	Disease	p.Gly72Glu	600370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600370	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY	OMIM	12	pfam00153	6031192,NP_005879
5250	47132595	Disease	p.Gly72Glu	600370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600370	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY	OMIM	13	pfam00153	NULL
2978	46577585	Disease	p.Tyr99Cys	600364.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600364	CONE DYSTROPHY 3||CONE-ROD DYSTROPHY 14	OMIM	9	smart00054	40254415,NP_000400
2978	46577585	Disease	p.Tyr99Cys	600364.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600364	CONE DYSTROPHY 3||CONE-ROD DYSTROPHY 14	OMIM	9	pfam00036	40254415,NP_000400
2978	46577585	Disease	p.Tyr99Cys	600364.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600364	CONE DYSTROPHY 3||CONE-ROD DYSTROPHY 14	OMIM	9	cd00051	40254415,NP_000400
2978	46577585	Disease	p.Tyr99Cys	600364.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600364	CONE DYSTROPHY 3||CONE-ROD DYSTROPHY 14	OMIM	121	COG5126	40254415,NP_000400
2978	46577585	Disease	p.Pro50Leu	600364.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600364	CONE DYSTROPHY 3	OMIM	50	cd00051	40254415,NP_000400
2978	46577585	Disease	p.Pro50Leu	600364.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600364	CONE DYSTROPHY 3	OMIM	63	COG5126	40254415,NP_000400
2978	46577585	Disease	p.Leu151Phe	600364.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600364	CONE-ROD DYSTROPHY 14||CONE DYSTROPHY 3	OMIM	71	cd00051	40254415,NP_000400
2978	46577585	Disease	p.Leu151Phe	600364.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600364	CONE-ROD DYSTROPHY 14||CONE DYSTROPHY 3	OMIM	17	smart00054	40254415,NP_000400
2978	46577585	Disease	p.Leu151Phe	600364.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600364	CONE-ROD DYSTROPHY 14||CONE DYSTROPHY 3	OMIM	17	pfam00036	40254415,NP_000400
2978	46577585	Disease	p.Leu151Phe	600364.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600364	CONE-ROD DYSTROPHY 14||CONE DYSTROPHY 3	OMIM	177	COG5126	40254415,NP_000400
3758	24497473	Disease	p.Ser200Arg	600359.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	198	pfam01007	NULL
3758	148539892	Disease	p.Ser200Arg	600359.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	198	pfam01007	NULL
3758	24497471	Disease	p.Ser200Arg	600359.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	198	pfam01007	NULL
3758	24497467	Disease	p.Ser200Arg	600359.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	198	pfam01007	NULL
3758	1352479	Disease	p.Ser200Arg	600359.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	179	pfam01007	4504837,NP_000211
3758	24497473	Disease	p.Ala195Val	600359.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	193	pfam01007	NULL
3758	148539892	Disease	p.Ala195Val	600359.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	193	pfam01007	NULL
3758	24497471	Disease	p.Ala195Val	600359.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	193	pfam01007	NULL
3758	24497467	Disease	p.Ala195Val	600359.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	193	pfam01007	NULL
3758	1352479	Disease	p.Ala195Val	600359.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	174	pfam01007	4504837,NP_000211
3758	24497473	Disease	p.Met338Thr	600359.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	344	pfam01007	NULL
3758	148539892	Disease	p.Met338Thr	600359.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	344	pfam01007	NULL
3758	24497471	Disease	p.Met338Thr	600359.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	344	pfam01007	NULL
3758	24497467	Disease	p.Met338Thr	600359.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	344	pfam01007	NULL
3758	1352479	Disease	p.Met338Thr	600359.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	320	pfam01007	4504837,NP_000211
3758	24497473	Disease	p.Ala198Thr	600359.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	196	pfam01007	NULL
3758	148539892	Disease	p.Ala198Thr	600359.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	196	pfam01007	NULL
3758	24497471	Disease	p.Ala198Thr	600359.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	196	pfam01007	NULL
3758	24497467	Disease	p.Ala198Thr	600359.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	196	pfam01007	NULL
3758	1352479	Disease	p.Ala198Thr	600359.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	177	pfam01007	4504837,NP_000211
3758	24497473	Disease	p.Gly167Glu	600359.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	165	pfam01007	NULL
3758	148539892	Disease	p.Gly167Glu	600359.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	165	pfam01007	NULL
3758	24497471	Disease	p.Gly167Glu	600359.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	165	pfam01007	NULL
3758	24497467	Disease	p.Gly167Glu	600359.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	165	pfam01007	NULL
3758	1352479	Disease	p.Gly167Glu	600359.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	146	pfam01007	4504837,NP_000211
3758	24497473	Disease	p.Asp108His	600359.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	106	pfam01007	NULL
3758	148539892	Disease	p.Asp108His	600359.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	106	pfam01007	NULL
3758	24497471	Disease	p.Asp108His	600359.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	106	pfam01007	NULL
3758	24497467	Disease	p.Asp108His	600359.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	106	pfam01007	NULL
3758	1352479	Disease	p.Asp108His	600359.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	66	pfam01007	4504837,NP_000211
3758	24497473	Disease	p.Lys124Asn	600359.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	122	pfam01007	NULL
3758	148539892	Disease	p.Lys124Asn	600359.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	122	pfam01007	NULL
3758	24497471	Disease	p.Lys124Asn	600359.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	122	pfam01007	NULL
3758	24497467	Disease	p.Lys124Asn	600359.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	122	pfam01007	NULL
3758	1352479	Disease	p.Lys124Asn	600359.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600359	BARTTER SYNDROME, ANTENATAL, TYPE 2	OMIM	103	pfam01007	4504837,NP_000211
6607	2498924	Disease	p.Thr274Ile	600354.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE II||SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6607	13259531	Disease	p.Thr274Ile	600354.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE II||SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	No Domain	N/A	NULL
6607	13259527	Disease	p.Thr274Ile	600354.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE II||SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	254	pfam06003	NULL
6607	13259529	Disease	p.Thr274Ile	600354.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE II||SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	No Domain	N/A	NULL
6607	2498924	Disease	p.Ser262Ile	600354.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6607	13259531	Disease	p.Ser262Ile	600354.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	No Domain	N/A	NULL
6607	13259527	Disease	p.Ser262Ile	600354.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	242	pfam06003	NULL
6607	13259529	Disease	p.Ser262Ile	600354.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	No Domain	N/A	NULL
6607	2498924	Disease	p.Tyr272Cys	600354.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6607	13259531	Disease	p.Tyr272Cys	600354.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	No Domain	N/A	NULL
6607	13259527	Disease	p.Tyr272Cys	600354.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	252	pfam06003	NULL
6607	13259529	Disease	p.Tyr272Cys	600354.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	No Domain	N/A	NULL
6607	2498924	Disease	p.Gly279Val	600354.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6607	13259531	Disease	p.Gly279Val	600354.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	No Domain	N/A	NULL
6607	13259527	Disease	p.Gly279Val	600354.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	259	pfam06003	NULL
6607	13259529	Disease	p.Gly279Val	600354.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	No Domain	N/A	NULL
6607	2498924	Disease	p.Ala2Gly	600354.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE II||SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6607	13259531	Disease	p.Ala2Gly	600354.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE II||SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	No Domain	N/A	NULL
6607	13259527	Disease	p.Ala2Gly	600354.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE II||SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	No Domain	N/A	NULL
6607	13259529	Disease	p.Ala2Gly	600354.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE II||SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	No Domain	N/A	NULL
6607	2498924	Disease	p.Asp30Asn	600354.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE II	OMIM	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6607	13259531	Disease	p.Asp30Asn	600354.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE II	OMIM	5	pfam06003	NULL
6607	13259527	Disease	p.Asp30Asn	600354.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE II	OMIM	5	pfam06003	NULL
6607	13259529	Disease	p.Asp30Asn	600354.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE II	OMIM	5	pfam06003	NULL
6607	2498924	Disease	p.Asp44Val	600354.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6607	13259531	Disease	p.Asp44Val	600354.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	19	pfam06003	NULL
6607	13259527	Disease	p.Asp44Val	600354.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	19	pfam06003	NULL
6607	13259529	Disease	p.Asp44Val	600354.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	19	pfam06003	NULL
6607	2498924	Disease	p.Gly95Arg	600354.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6607	13259531	Disease	p.Gly95Arg	600354.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	6	smart00333	NULL
6607	13259531	Disease	p.Gly95Arg	600354.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	72	pfam06003	NULL
6607	13259527	Disease	p.Gly95Arg	600354.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	6	smart00333	NULL
6607	13259527	Disease	p.Gly95Arg	600354.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	72	pfam06003	NULL
6607	13259529	Disease	p.Gly95Arg	600354.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	6	smart00333	NULL
6607	13259529	Disease	p.Gly95Arg	600354.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	72	pfam06003	NULL
6607	2498924	Disease	p.Ala111Gly	600354.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I||SPINAL MUSCULAR ATROPHY, TYPE II	OMIM	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6607	13259531	Disease	p.Ala111Gly	600354.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I||SPINAL MUSCULAR ATROPHY, TYPE II	OMIM	28	smart00333	NULL
6607	13259531	Disease	p.Ala111Gly	600354.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I||SPINAL MUSCULAR ATROPHY, TYPE II	OMIM	21	cd04508	NULL
6607	13259531	Disease	p.Ala111Gly	600354.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I||SPINAL MUSCULAR ATROPHY, TYPE II	OMIM	88	pfam06003	NULL
6607	13259527	Disease	p.Ala111Gly	600354.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I||SPINAL MUSCULAR ATROPHY, TYPE II	OMIM	28	smart00333	NULL
6607	13259527	Disease	p.Ala111Gly	600354.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I||SPINAL MUSCULAR ATROPHY, TYPE II	OMIM	21	cd04508	NULL
6607	13259527	Disease	p.Ala111Gly	600354.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I||SPINAL MUSCULAR ATROPHY, TYPE II	OMIM	88	pfam06003	NULL
6607	13259529	Disease	p.Ala111Gly	600354.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I||SPINAL MUSCULAR ATROPHY, TYPE II	OMIM	28	smart00333	NULL
6607	13259529	Disease	p.Ala111Gly	600354.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I||SPINAL MUSCULAR ATROPHY, TYPE II	OMIM	21	cd04508	NULL
6607	13259529	Disease	p.Ala111Gly	600354.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I||SPINAL MUSCULAR ATROPHY, TYPE II	OMIM	88	pfam06003	NULL
6607	2498924	Disease	p.Ser262Gly	600354.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6607	13259531	Disease	p.Ser262Gly	600354.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	No Domain	N/A	NULL
6607	13259527	Disease	p.Ser262Gly	600354.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	242	pfam06003	NULL
6607	13259529	Disease	p.Ser262Gly	600354.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE III	OMIM	No Domain	N/A	NULL
6607	2498924	Disease	p.Ile116Phe	600354.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6607	13259531	Disease	p.Ile116Phe	600354.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	33	smart00333	NULL
6607	13259531	Disease	p.Ile116Phe	600354.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	26	cd04508	NULL
6607	13259531	Disease	p.Ile116Phe	600354.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	93	pfam06003	NULL
6607	13259527	Disease	p.Ile116Phe	600354.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	33	smart00333	NULL
6607	13259527	Disease	p.Ile116Phe	600354.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	26	cd04508	NULL
6607	13259527	Disease	p.Ile116Phe	600354.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	93	pfam06003	NULL
6607	13259529	Disease	p.Ile116Phe	600354.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	33	smart00333	NULL
6607	13259529	Disease	p.Ile116Phe	600354.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	26	cd04508	NULL
6607	13259529	Disease	p.Ile116Phe	600354.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	93	pfam06003	NULL
6607	2498924	Disease	p.Gln136Glu	600354.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6607	13259531	Disease	p.Gln136Glu	600354.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	62	smart00333	NULL
6607	13259531	Disease	p.Gln136Glu	600354.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	67	cd04508	NULL
6607	13259531	Disease	p.Gln136Glu	600354.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	113	pfam06003	NULL
6607	13259527	Disease	p.Gln136Glu	600354.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	62	smart00333	NULL
6607	13259527	Disease	p.Gln136Glu	600354.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	67	cd04508	NULL
6607	13259527	Disease	p.Gln136Glu	600354.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	113	pfam06003	NULL
6607	13259529	Disease	p.Gln136Glu	600354.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	62	smart00333	NULL
6607	13259529	Disease	p.Gln136Glu	600354.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	67	cd04508	NULL
6607	13259529	Disease	p.Gln136Glu	600354.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600354	SPINAL MUSCULAR ATROPHY, TYPE I	OMIM	113	pfam06003	NULL
5995	61744452	Disease	p.Ser66Arg	600342.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600342	RETINITIS PIGMENTOSA 44	OMIM	32	pfam00001	NULL
5995	1350592	Disease	p.Ser66Arg	600342.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600342	RETINITIS PIGMENTOSA 44	OMIM	32	pfam00001	61744454,NP_001012738
5995	21361329	Disease	p.Ser66Arg	600342.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600342	RETINITIS PIGMENTOSA 44	OMIM	32	pfam00001	NULL
1311	209572601	Disease	p.Asp472Tyr	600310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600310	PSEUDOACHONDROPLASIA	OMIM	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Cys468Tyr	600310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600310	PSEUDOACHONDROPLASIA	OMIM	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Asp342Tyr	600310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600310	EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE	OMIM	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Cys328Arg	600310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600310	PSEUDOACHONDROPLASIA	OMIM	15	pfam02412	40217843,NP_000086
1311	209572601	Disease	p.Asn523Lys	600310.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600310	EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MILD	OMIM	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Asn453Ser	600310.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600310	EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE	OMIM	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Asp473Gly	600310.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600310	PSEUDOACHONDROAPLASIA	OMIM	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Gly719Asp	600310.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600310	PSEUDOACHONDROPLASIA, SEVERE	OMIM	175	pfam05735	40217843,NP_000086
1311	209572601	Disease	p.Cys348Arg	600310.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600310	PSEUDOACHONDROPLASIA	OMIM	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Arg718Trp	600310.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600310	EPIPHYSEAL DYSPLASIA, MULTIPLE, 1	OMIM	174	pfam05735	40217843,NP_000086
36	1168283	Disease	p.Leu222Phe	600301.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	160_G	cd01163	4501859,NP_001600
36	1168283	Disease	p.Leu222Phe	600301.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	149	cd01159	4501859,NP_001600
36	1168283	Disease	p.Leu222Phe	600301.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	306	COG1960	4501859,NP_001600
36	1168283	Disease	p.Leu222Phe	600301.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	183	cd01153	4501859,NP_001600
36	1168283	Disease	p.Leu222Phe	600301.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	170	cd01162	4501859,NP_001600
36	1168283	Disease	p.Leu222Phe	600301.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	166	cd01157	4501859,NP_001600
36	1168283	Disease	p.Leu222Phe	600301.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	225	cd01154	4501859,NP_001600
36	1168283	Disease	p.Leu222Phe	600301.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	202	cd01161	4501859,NP_001600
36	1168283	Disease	p.Leu222Phe	600301.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	216	cd00567	4501859,NP_001600
36	1168283	Disease	p.Leu222Phe	600301.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	167	cd01160	4501859,NP_001600
36	1168283	Disease	p.Leu222Phe	600301.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	169	cd01158	4501859,NP_001600
36	1168283	Disease	p.Leu222Phe	600301.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	180	cd01152	4501859,NP_001600
36	1168283	Disease	p.Leu222Phe	600301.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	209	cd01155	4501859,NP_001600
36	1168283	Disease	p.Leu222Phe	600301.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	78	pfam02770	4501859,NP_001600
36	1168283	Disease	p.Leu222Phe	600301.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	170	cd01156	4501859,NP_001600
36	1168283	Disease	p.Leu222Phe	600301.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	184	cd01151	4501859,NP_001600
36	1168283	Disease	p.Thr148Ile	600301.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	82	cd01163	4501859,NP_001600
36	1168283	Disease	p.Thr148Ile	600301.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	76_G	cd01159	4501859,NP_001600
36	1168283	Disease	p.Thr148Ile	600301.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	190	COG1960	4501859,NP_001600
36	1168283	Disease	p.Thr148Ile	600301.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	98	cd01153	4501859,NP_001600
36	1168283	Disease	p.Thr148Ile	600301.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	91	cd01162	4501859,NP_001600
36	1168283	Disease	p.Thr148Ile	600301.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	91	cd01157	4501859,NP_001600
36	1168283	Disease	p.Thr148Ile	600301.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	148	cd01154	4501859,NP_001600
36	1168283	Disease	p.Thr148Ile	600301.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	216	pfam02771	4501859,NP_001600
36	1168283	Disease	p.Thr148Ile	600301.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	125	cd01161	4501859,NP_001600
36	1168283	Disease	p.Thr148Ile	600301.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	109	cd00567	4501859,NP_001600
36	1168283	Disease	p.Thr148Ile	600301.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	92	cd01160	4501859,NP_001600
36	1168283	Disease	p.Thr148Ile	600301.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	93	cd01158	4501859,NP_001600
36	1168283	Disease	p.Thr148Ile	600301.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	106	cd01152	4501859,NP_001600
36	1168283	Disease	p.Thr148Ile	600301.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	127	cd01155	4501859,NP_001600
36	1168283	Disease	p.Thr148Ile	600301.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	96	cd01156	4501859,NP_001600
36	1168283	Disease	p.Thr148Ile	600301.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	106	cd01151	4501859,NP_001600
36	1168283	Disease	p.Glu387Lys	600301.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	373	cd01163	4501859,NP_001600
36	1168283	Disease	p.Glu387Lys	600301.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	354	cd01159	4501859,NP_001600
36	1168283	Disease	p.Glu387Lys	600301.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	575	COG1960	4501859,NP_001600
36	1168283	Disease	p.Glu387Lys	600301.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	125	pfam00441	4501859,NP_001600
36	1168283	Disease	p.Glu387Lys	600301.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	410	cd01153	4501859,NP_001600
36	1168283	Disease	p.Glu387Lys	600301.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	340	cd01162	4501859,NP_001600
36	1168283	Disease	p.Glu387Lys	600301.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	334	cd01157	4501859,NP_001600
36	1168283	Disease	p.Glu387Lys	600301.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	418	cd01154	4501859,NP_001600
36	1168283	Disease	p.Glu387Lys	600301.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	117	pfam08028	4501859,NP_001600
36	1168283	Disease	p.Glu387Lys	600301.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	391	cd01161	4501859,NP_001600
36	1168283	Disease	p.Glu387Lys	600301.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	436	cd00567	4501859,NP_001600
36	1168283	Disease	p.Glu387Lys	600301.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	334	cd01160	4501859,NP_001600
36	1168283	Disease	p.Glu387Lys	600301.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	337	cd01158	4501859,NP_001600
36	1168283	Disease	p.Glu387Lys	600301.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	354	cd01152	4501859,NP_001600
36	1168283	Disease	p.Glu387Lys	600301.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	396	cd01155	4501859,NP_001600
36	1168283	Disease	p.Glu387Lys	600301.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	342	cd01156	4501859,NP_001600
36	1168283	Disease	p.Glu387Lys	600301.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600301	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	355	cd01151	4501859,NP_001600
2618	131616	Disease	p.Gly240Arg	600287.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	303	COG0151	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly240Arg	600287.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	314	COG0439	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly240Arg	600287.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	184	pfam01071	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	28416899	Disease	p.Gly240Arg	600287.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	314	COG0439	NULL
2618	28416899	Disease	p.Gly240Arg	600287.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	303	COG0151	NULL
2618	28416899	Disease	p.Gly240Arg	600287.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	184	pfam01071	NULL
2618	131616	Disease	p.Gly240Arg	600287.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	303	COG0151	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly240Arg	600287.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	314	COG0439	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly240Arg	600287.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	184	pfam01071	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly240Arg	600287.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	303	COG0151	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly240Arg	600287.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	314	COG0439	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly240Arg	600287.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	184	pfam01071	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Leu129Pro	600287.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	142	COG0151	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Leu129Pro	600287.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	172	COG0439	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Leu129Pro	600287.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	28	pfam01071	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	28416899	Disease	p.Leu129Pro	600287.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	172	COG0439	NULL
2618	28416899	Disease	p.Leu129Pro	600287.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	142	COG0151	NULL
2618	28416899	Disease	p.Leu129Pro	600287.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	28	pfam01071	NULL
2618	131616	Disease	p.Leu129Pro	600287.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	142	COG0151	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Leu129Pro	600287.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	172	COG0439	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Leu129Pro	600287.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	28	pfam01071	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Leu129Pro	600287.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	142	COG0151	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Leu129Pro	600287.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	172	COG0439	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Leu129Pro	600287.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	28	pfam01071	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Glu71Gly	600287.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	80	COG0151	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Glu71Gly	600287.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	102	pfam02844	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Glu71Gly	600287.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	100	COG0439	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	28416899	Disease	p.Glu71Gly	600287.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	102	pfam02844	NULL
2618	28416899	Disease	p.Glu71Gly	600287.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	100	COG0439	NULL
2618	28416899	Disease	p.Glu71Gly	600287.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	80	COG0151	NULL
2618	131616	Disease	p.Glu71Gly	600287.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	80	COG0151	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Glu71Gly	600287.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	102	pfam02844	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Glu71Gly	600287.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	100	COG0439	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Glu71Gly	600287.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	80	COG0151	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Glu71Gly	600287.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	102	pfam02844	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Glu71Gly	600287.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	100	COG0439	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly526Arg	600287.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	73	cd02196	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly526Arg	600287.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	39	cd00396	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly526Arg	600287.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	143	pfam00586	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly526Arg	600287.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	105	cd02194	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly526Arg	600287.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	113	COG0150	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	28416899	Disease	p.Gly526Arg	600287.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	No Domain	N/A	NULL
2618	131616	Disease	p.Gly526Arg	600287.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	73	cd02196	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly526Arg	600287.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	39	cd00396	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly526Arg	600287.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	143	pfam00586	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly526Arg	600287.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	105	cd02194	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly526Arg	600287.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	113	COG0150	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly526Arg	600287.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	73	cd02196	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly526Arg	600287.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	39	cd00396	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly526Arg	600287.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	143	pfam00586	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly526Arg	600287.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	105	cd02194	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Gly526Arg	600287.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	113	COG0150	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Asp500Asn	600287.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	40	cd02196	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Asp500Asn	600287.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	13	cd00396	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Asp500Asn	600287.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	82	pfam00586	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Asp500Asn	600287.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	57	cd02194	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Asp500Asn	600287.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	80	COG0150	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	28416899	Disease	p.Asp500Asn	600287.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	No Domain	N/A	NULL
2618	131616	Disease	p.Asp500Asn	600287.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	40	cd02196	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Asp500Asn	600287.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	13	cd00396	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Asp500Asn	600287.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	82	pfam00586	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Asp500Asn	600287.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	57	cd02194	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Asp500Asn	600287.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	80	COG0150	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Asp500Asn	600287.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	40	cd02196	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Asp500Asn	600287.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	13	cd00396	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Asp500Asn	600287.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	82	pfam00586	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Asp500Asn	600287.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	57	cd02194	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Asp500Asn	600287.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	OMIM	80	COG0150	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Pro244Leu	600287.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	307	COG0151	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Pro244Leu	600287.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	323	COG0439	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Pro244Leu	600287.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	188	pfam01071	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	28416899	Disease	p.Pro244Leu	600287.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	323	COG0439	NULL
2618	28416899	Disease	p.Pro244Leu	600287.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	307	COG0151	NULL
2618	28416899	Disease	p.Pro244Leu	600287.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	188	pfam01071	NULL
2618	131616	Disease	p.Pro244Leu	600287.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	307	COG0151	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Pro244Leu	600287.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	323	COG0439	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Pro244Leu	600287.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	188	pfam01071	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Pro244Leu	600287.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	307	COG0151	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Pro244Leu	600287.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	323	COG0439	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
2618	131616	Disease	p.Pro244Leu	600287.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D	OMIM	188	pfam01071	4503915,NP_000810|209869993,NP_001129477|209869995,NP_001129478
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	74	cd07171	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	73	cd07173	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	73	cd06967	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	74	cd07166	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	45	cd06932	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	90	cd07160	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	71	cd07161	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	71	cd06962	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	70	cd06956	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	71	cd06969	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	70	cd06966	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	80	cd07157	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	137	smart00399	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	73	cd06965	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	69	cd06959	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	70	cd07162	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	75	cd06961	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	75	cd06968	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	77	cd06970	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	76	cd07169	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	82	cd07163	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	77	cd07168	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	76	cd06955	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	71	cd07167	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	69	cd07158	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	70	cd07156	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	70	cd07154	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	86	cd06916	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	68	cd07155	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	71	cd06960	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	68	cd07164	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	68	cd06958	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	68	cd06963	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	69	cd06957	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	68	cd07165	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	76	cd07179	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	74	cd06964	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	81	cd07172	NULL
3172	31077209	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	74	cd07170	NULL
3172	71725339	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	4	cd06949	NULL
3172	71725339	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	4	cd06945	NULL
3172	71725339	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	94	cd07170	NULL
3172	71725339	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	3	cd07072	NULL
3172	71725339	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	106	cd06955	NULL
3172	71725339	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	2	cd06944	NULL
3172	71725339	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	92	cd06966	NULL
3172	71725339	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	17	cd06938	NULL
3172	71725339	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	91	cd07167	NULL
3172	71725339	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	19	cd06935	NULL
3172	71725339	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	110	cd06932	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	74	cd07171	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	73	cd07173	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	73	cd06967	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	74	cd07166	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	45	cd06932	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	90	cd07160	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	71	cd07161	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	71	cd06962	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	70	cd06956	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	71	cd06969	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	70	cd06966	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	80	cd07157	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	137	smart00399	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	73	cd06965	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	69	cd06959	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	70	cd07162	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	75	cd06961	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	75	cd06968	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	77	cd06970	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	76	cd07169	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	82	cd07163	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	77	cd07168	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	76	cd06955	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	71	cd07167	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	69	cd07158	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	70	cd07156	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	70	cd07154	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	86	cd06916	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	68	cd07155	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	71	cd06960	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	68	cd07164	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	68	cd06958	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	68	cd06963	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	69	cd06957	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	68	cd07165	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	76	cd07179	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	74	cd06964	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	81	cd07172	NULL
3172	31077207	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	74	cd07170	NULL
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	74	cd07171	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	73	cd07173	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	73	cd06967	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	74	cd07166	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	45	cd06932	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	90	cd07160	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	71	cd07161	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	71	cd06962	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	70	cd06956	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	71	cd06969	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	70	cd06966	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	80	cd07157	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	137	smart00399	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	73	cd06965	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	69	cd06959	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	70	cd07162	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	75	cd06961	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	75	cd06968	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	77	cd06970	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	76	cd07169	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	82	cd07163	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	77	cd07168	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	76	cd06955	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	71	cd07167	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	69	cd07158	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	70	cd07156	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	70	cd07154	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	86	cd06916	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	68	cd07155	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	71	cd06960	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	68	cd07164	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	68	cd06958	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	68	cd06963	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	69	cd06957	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	68	cd07165	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	76	cd07179	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	74	cd06964	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	81	cd07172	31077205,NP_000448
3172	148886624	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	74	cd07170	31077205,NP_000448
3172	71725336	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	4	cd06949	NULL
3172	71725336	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	4	cd06945	NULL
3172	71725336	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	94	cd07170	NULL
3172	71725336	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	106	cd06955	NULL
3172	71725336	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	2	cd06944	NULL
3172	71725336	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	92	cd06966	NULL
3172	71725336	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	17	cd06938	NULL
3172	71725336	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	91	cd07167	NULL
3172	71725336	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	19	cd06935	NULL
3172	71725336	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	110	cd06932	NULL
3172	71725341	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	4	cd06949	NULL
3172	71725341	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	4	cd06945	NULL
3172	71725341	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	94	cd07170	NULL
3172	71725341	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	3	cd07072	NULL
3172	71725341	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	106	cd06955	NULL
3172	71725341	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	2	cd06944	NULL
3172	71725341	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	92	cd06966	NULL
3172	71725341	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	17	cd06938	NULL
3172	71725341	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	91	cd07167	NULL
3172	71725341	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	19	cd06935	NULL
3172	71725341	Disease	p.Arg127Trp	600281.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	110	cd06932	NULL
3172	31077209	Disease	p.Val393Ile	600281.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	NONINSULIN-DEPENDENT DIABETES MELLITUS	OMIM	No Domain	N/A	NULL
3172	71725339	Disease	p.Val393Ile	600281.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	NONINSULIN-DEPENDENT DIABETES MELLITUS	OMIM	No Domain	N/A	NULL
3172	31077207	Disease	p.Val393Ile	600281.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	NONINSULIN-DEPENDENT DIABETES MELLITUS	OMIM	325	cd06942	NULL
3172	148886624	Disease	p.Val393Ile	600281.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	NONINSULIN-DEPENDENT DIABETES MELLITUS	OMIM	351	cd06942	31077205,NP_000448
3172	71725336	Disease	p.Val393Ile	600281.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	NONINSULIN-DEPENDENT DIABETES MELLITUS	OMIM	No Domain	N/A	NULL
3172	71725341	Disease	p.Val393Ile	600281.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	NONINSULIN-DEPENDENT DIABETES MELLITUS	OMIM	346	cd06942	NULL
3172	31077209	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	272_G	cd06954	NULL
3172	31077209	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	348	cd06934	NULL
3172	31077209	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	253	cd06946	NULL
3172	31077209	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	270	cd07068	NULL
3172	31077209	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	244	cd06952	NULL
3172	31077209	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	270	cd06935	NULL
3172	31077209	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	213	cd07349	NULL
3172	31077209	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	223	cd06937	NULL
3172	31077209	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	231	cd06938	NULL
3172	31077209	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	233	cd07350	NULL
3172	31077209	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	331	cd06932	NULL
3172	31077209	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	226	cd07069	NULL
3172	31077209	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	225	cd07070	NULL
3172	31077209	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	259	cd06945	NULL
3172	31077209	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	241	cd06949	NULL
3172	31077209	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	362	pfam00104	NULL
3172	31077209	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	227	cd06951	NULL
3172	31077209	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	225	cd06948	NULL
3172	31077209	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	224	cd06931	NULL
3172	31077209	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	232	cd06944	NULL
3172	71725339	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	253	cd06948	NULL
3172	71725339	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	242	cd07073	NULL
3172	71725339	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	342	cd06942	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	272_G	cd06954	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	348	cd06934	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	270	cd07068	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	253	cd06946	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	244	cd06952	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	270	cd06935	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	213	cd07349	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	223	cd06937	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	231	cd06938	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	233	cd07350	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	331	cd06932	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	226	cd07072	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	226	cd07069	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	225	cd07070	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	256	cd06942	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	213	cd07073	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	241	cd06949	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	259	cd06945	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	362	pfam00104	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	227	cd06951	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	224	cd06931	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	225	cd06948	NULL
3172	31077207	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	232	cd06944	NULL
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	272_G	cd06954	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	348	cd06934	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	270	cd07068	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	253	cd06946	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	244	cd06952	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	270	cd06935	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	213	cd07349	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	223	cd06937	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	231	cd06938	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	233	cd07350	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	331	cd06932	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	226	cd07072	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	226	cd07069	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	225	cd07070	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	256	cd06942	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	213	cd07073	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	241	cd06949	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	259	cd06945	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	362	pfam00104	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	227	cd06951	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	224	cd06931	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	225	cd06948	31077205,NP_000448
3172	148886624	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	232	cd06944	31077205,NP_000448
3172	71725336	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	248	cd06948	NULL
3172	71725341	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	253	cd06948	NULL
3172	71725341	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	242	cd07073	NULL
3172	71725341	Disease	p.Met364Arg	600281.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600281	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	OMIM	318	cd06942	NULL
4855	20139103	Disease	p.Trp71Cys	600276.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	5	smart00181	55770876,NP_004548
4855	20139103	Disease	p.Trp71Cys	600276.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	16	cd00053	55770876,NP_004548
4855	20139103	Disease	p.Arg169Cys	600276.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	34	cd00054	55770876,NP_004548
4855	20139103	Disease	p.Arg169Cys	600276.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	21	smart00181	55770876,NP_004548
4855	20139103	Disease	p.Arg169Cys	600276.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	26	cd00053	55770876,NP_004548
4855	20139103	Disease	p.Arg169Cys	600276.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	16	pfam00008	55770876,NP_004548
4855	20139103	Disease	p.Arg182Cys	600276.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	60	cd00054	55770876,NP_004548
4855	20139103	Disease	p.Arg182Cys	600276.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	57	smart00181	55770876,NP_004548
4855	20139103	Disease	p.Arg182Cys	600276.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	58	cd00053	55770876,NP_004548
4855	20139103	Disease	p.Arg182Cys	600276.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	37	pfam00008	55770876,NP_004548
4855	20139103	Disease	p.Cys455Arg	600276.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	21	pfam00008	55770876,NP_004548
4855	20139103	Disease	p.Cys455Arg	600276.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	26	pfam07645	55770876,NP_004548
4855	20139103	Disease	p.Cys455Arg	600276.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	37	smart00179	55770876,NP_004548
4855	20139103	Disease	p.Cys455Arg	600276.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	39	cd00054	55770876,NP_004548
4855	20139103	Disease	p.Cys455Arg	600276.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	31	cd00053	55770876,NP_004548
4855	20139103	Disease	p.Cys455Arg	600276.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	30	smart00181	55770876,NP_004548
4855	20139103	Disease	p.Arg332Cys	600276.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	36	cd00054	55770876,NP_004548
4855	20139103	Disease	p.Arg332Cys	600276.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	34	smart00179	55770876,NP_004548
4855	20139103	Disease	p.Arg332Cys	600276.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	23	pfam07645	55770876,NP_004548
4855	20139103	Disease	p.Arg332Cys	600276.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	27	smart00181	55770876,NP_004548
4855	20139103	Disease	p.Arg332Cys	600276.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	28	cd00053	55770876,NP_004548
4855	20139103	Disease	p.Arg133Cys	600276.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	27	smart00181	55770876,NP_004548
4855	20139103	Disease	p.Arg133Cys	600276.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	28	cd00053	55770876,NP_004548
4855	20139103	Disease	p.Ala1020Pro	600276.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	22	smart00181	55770876,NP_004548
4855	20139103	Disease	p.Ala1020Pro	600276.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	25	cd00053	55770876,NP_004548
4855	20139103	Disease	p.Ala1020Pro	600276.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	30	smart00179	55770876,NP_004548
4855	20139103	Disease	p.Ala1020Pro	600276.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	33	cd00054	55770876,NP_004548
4855	20139103	Disease	p.Cys428Ser	600276.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	84	cd00053	55770876,NP_004548
4855	20139103	Disease	p.Cys428Ser	600276.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600276	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY	OMIM	81	smart00181	55770876,NP_004548
4853	143811429	Disease	p.Cys444Tyr	600275.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600275	ALAGILLE SYNDROME 2	OMIM	38	pfam07645	24041035,NP_077719
4853	143811429	Disease	p.Cys444Tyr	600275.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600275	ALAGILLE SYNDROME 2	OMIM	60	cd00054	24041035,NP_077719
4853	143811429	Disease	p.Cys444Tyr	600275.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600275	ALAGILLE SYNDROME 2	OMIM	55	smart00179	24041035,NP_077719
4853	143811429	Disease	p.Cys444Tyr	600275.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600275	ALAGILLE SYNDROME 2	OMIM	37	pfam00008	24041035,NP_077719
4853	143811429	Disease	p.Cys444Tyr	600275.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600275	ALAGILLE SYNDROME 2	OMIM	57	smart00181	24041035,NP_077719
4853	143811429	Disease	p.Cys444Tyr	600275.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600275	ALAGILLE SYNDROME 2	OMIM	58	cd00053	24041035,NP_077719
6556	1352521	Disease	p.Asp543Asn	600266.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600266	BURULI ULCER, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	109255241,NP_000569
6324	39930610	Disease	p.Cys121Trp	600235.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600235	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS	OMIM	90	pfam00047	NULL
6324	39930610	Disease	p.Cys121Trp	600235.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600235	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS	OMIM	100	cd05715	NULL
6324	1705868	Disease	p.Cys121Trp	600235.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600235	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS	OMIM	90	pfam00047	4506805,NP_001028
6324	1705868	Disease	p.Cys121Trp	600235.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600235	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS	OMIM	100	cd05715	4506805,NP_001028
6324	39930610	Disease	p.Glu87Gln	600235.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600235	CARDIAC CONDUCTION DEFECT, NONSPECIFIC	OMIM	55	pfam00047	NULL
6324	39930610	Disease	p.Glu87Gln	600235.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600235	CARDIAC CONDUCTION DEFECT, NONSPECIFIC	OMIM	69	cd05715	NULL
6324	1705868	Disease	p.Glu87Gln	600235.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600235	CARDIAC CONDUCTION DEFECT, NONSPECIFIC	OMIM	55	pfam00047	4506805,NP_001028
6324	1705868	Disease	p.Glu87Gln	600235.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600235	CARDIAC CONDUCTION DEFECT, NONSPECIFIC	OMIM	69	cd05715	4506805,NP_001028
3158	1708234	Disease	p.Phe174Leu	600234.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	134	COG3425	5031751,NP_005509
3158	1708234	Disease	p.Phe174Leu	600234.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	192	cd00827	5031751,NP_005509
3158	1708234	Disease	p.Phe174Leu	600234.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	122	pfam01154	5031751,NP_005509
3158	1708234	Disease	p.Phe174Leu	600234.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	19	pfam08545	5031751,NP_005509
3158	260656028	Disease	p.Phe174Leu	600234.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	134	COG3425	NULL
3158	260656028	Disease	p.Phe174Leu	600234.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	122	pfam01154	NULL
3158	260656028	Disease	p.Phe174Leu	600234.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	192	cd00827	NULL
3158	1708234	Disease	p.Gly212Arg	600234.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	183	COG3425	5031751,NP_005509
3158	1708234	Disease	p.Gly212Arg	600234.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	255	cd00827	5031751,NP_005509
3158	1708234	Disease	p.Gly212Arg	600234.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	160	pfam01154	5031751,NP_005509
3158	1708234	Disease	p.Gly212Arg	600234.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	75	pfam08545	5031751,NP_005509
3158	260656028	Disease	p.Gly212Arg	600234.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	227	COG3425	NULL
3158	260656028	Disease	p.Gly212Arg	600234.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	159_G	pfam01154	NULL
3158	260656028	Disease	p.Gly212Arg	600234.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	311	cd00827	NULL
3158	260656028	Disease	p.Gly212Arg	600234.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	33	pfam08540	NULL
3158	1708234	Disease	p.Arg500His	600234.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	486	COG3425	5031751,NP_005509
3158	1708234	Disease	p.Arg500His	600234.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	289	pfam08540	5031751,NP_005509
3158	260656028	Disease	p.Arg500His	600234.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	No Domain	N/A	NULL
3158	1708234	Disease	p.Val54Met	600234.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	3	COG3425	5031751,NP_005509
3158	1708234	Disease	p.Val54Met	600234.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	2	cd00827	5031751,NP_005509
3158	1708234	Disease	p.Val54Met	600234.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	2	pfam01154	5031751,NP_005509
3158	260656028	Disease	p.Val54Met	600234.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	3	COG3425	NULL
3158	260656028	Disease	p.Val54Met	600234.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	2	pfam01154	NULL
3158	260656028	Disease	p.Val54Met	600234.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	2	cd00827	NULL
3158	1708234	Disease	p.Tyr167Cys	600234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	127	COG3425	5031751,NP_005509
3158	1708234	Disease	p.Tyr167Cys	600234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	185	cd00827	5031751,NP_005509
3158	1708234	Disease	p.Tyr167Cys	600234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	115	pfam01154	5031751,NP_005509
3158	1708234	Disease	p.Tyr167Cys	600234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	12	pfam08545	5031751,NP_005509
3158	260656028	Disease	p.Tyr167Cys	600234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	127	COG3425	NULL
3158	260656028	Disease	p.Tyr167Cys	600234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	115	pfam01154	NULL
3158	260656028	Disease	p.Tyr167Cys	600234.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600234	MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	OMIM	185	cd00827	NULL
6337	227430287	Disease	p.Ser562Leu	600228.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600228	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE	OMIM	1534	pfam00858	NULL
6337	227430289	Disease	p.Ser562Leu	600228.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600228	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE	OMIM	1461	pfam00858	NULL
6337	585966	Disease	p.Ser562Leu	600228.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600228	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE	OMIM	1598	pfam00858	4506815,NP_001029
6337	227430287	Disease	p.Val114Ile	600228.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600228	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2	OMIM	85	pfam00858	NULL
6337	227430289	Disease	p.Val114Ile	600228.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600228	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2	OMIM	No Domain	N/A	NULL
6337	585966	Disease	p.Val114Ile	600228.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600228	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2	OMIM	110	pfam00858	4506815,NP_001029
6337	227430287	Disease	p.Trp493Arg	600228.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600228	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2	OMIM	1366	pfam00858	NULL
6337	227430289	Disease	p.Trp493Arg	600228.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600228	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2	OMIM	1241	pfam00858	NULL
6337	585966	Disease	p.Trp493Arg	600228.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600228	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2	OMIM	1437	pfam00858	4506815,NP_001029
6337	227430287	Disease	p.Arg81Cys	600228.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600228	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2	OMIM	No Domain	N/A	NULL
6337	227430289	Disease	p.Arg81Cys	600228.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600228	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2	OMIM	No Domain	N/A	NULL
6337	585966	Disease	p.Arg81Cys	600228.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600228	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2	OMIM	32	pfam00858	4506815,NP_001029
2643	399536	Disease	p.Arg88Trp	600225.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	23	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg88Trp	600225.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	46	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	66932970	Disease	p.Arg88Trp	600225.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	23	cd00642	NULL
2643	66932970	Disease	p.Arg88Trp	600225.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	46	COG0302	NULL
2643	66932972	Disease	p.Arg88Trp	600225.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	23	cd00642	NULL
2643	66932972	Disease	p.Arg88Trp	600225.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	46	COG0302	NULL
2643	399536	Disease	p.Arg88Trp	600225.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	23	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg88Trp	600225.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	46	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Asp134Val	600225.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	9	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Asp134Val	600225.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	71	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Asp134Val	600225.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	102	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	66932970	Disease	p.Asp134Val	600225.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	9	cd00651	NULL
2643	66932970	Disease	p.Asp134Val	600225.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	71	cd00642	NULL
2643	66932970	Disease	p.Asp134Val	600225.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	102	COG0302	NULL
2643	66932972	Disease	p.Asp134Val	600225.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	9	cd00651	NULL
2643	66932972	Disease	p.Asp134Val	600225.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	71	cd00642	NULL
2643	66932972	Disease	p.Asp134Val	600225.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	102	COG0302	NULL
2643	399536	Disease	p.Asp134Val	600225.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	9	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Asp134Val	600225.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	71	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Asp134Val	600225.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	102	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly201Glu	600225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	70	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly201Glu	600225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	128	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly201Glu	600225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	139	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly201Glu	600225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	173	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	66932970	Disease	p.Gly201Glu	600225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	70	pfam01227	NULL
2643	66932970	Disease	p.Gly201Glu	600225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	126	cd00651	NULL
2643	66932970	Disease	p.Gly201Glu	600225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	139	cd00642	NULL
2643	66932970	Disease	p.Gly201Glu	600225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	173	COG0302	NULL
2643	66932972	Disease	p.Gly201Glu	600225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	70	pfam01227	NULL
2643	66932972	Disease	p.Gly201Glu	600225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	128	cd00651	NULL
2643	66932972	Disease	p.Gly201Glu	600225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	139	cd00642	NULL
2643	66932972	Disease	p.Gly201Glu	600225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	173	COG0302	NULL
2643	399536	Disease	p.Gly201Glu	600225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	70	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly201Glu	600225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	128	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly201Glu	600225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	139	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly201Glu	600225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	173	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met1Ile	600225.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	No Domain	N/A	4503949,NP_000152|66932968,NP_001019195
2643	66932970	Disease	p.Met1Ile	600225.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	No Domain	N/A	NULL
2643	66932972	Disease	p.Met1Ile	600225.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	No Domain	N/A	NULL
2643	399536	Disease	p.Met1Ile	600225.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	No Domain	N/A	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.His144Pro	600225.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	35	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.His144Pro	600225.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	81	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.His144Pro	600225.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	112	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	66932970	Disease	p.His144Pro	600225.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	35	cd00651	NULL
2643	66932970	Disease	p.His144Pro	600225.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	81	cd00642	NULL
2643	66932970	Disease	p.His144Pro	600225.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	112	COG0302	NULL
2643	66932972	Disease	p.His144Pro	600225.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	35	cd00651	NULL
2643	66932972	Disease	p.His144Pro	600225.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	81	cd00642	NULL
2643	66932972	Disease	p.His144Pro	600225.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	112	COG0302	NULL
2643	399536	Disease	p.His144Pro	600225.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	35	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.His144Pro	600225.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	81	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.His144Pro	600225.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	112	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met221Thr	600225.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	91	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met221Thr	600225.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	177	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met221Thr	600225.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	159	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met221Thr	600225.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	193	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	66932970	Disease	p.Met221Thr	600225.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	181	cd00651	NULL
2643	66932970	Disease	p.Met221Thr	600225.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	163	cd00642	NULL
2643	66932970	Disease	p.Met221Thr	600225.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	220	COG0302	NULL
2643	66932972	Disease	p.Met221Thr	600225.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
2643	399536	Disease	p.Met221Thr	600225.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	91	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met221Thr	600225.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	177	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met221Thr	600225.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	159	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met221Thr	600225.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	193	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly108Asp	600225.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	44	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly108Asp	600225.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	67	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	66932970	Disease	p.Gly108Asp	600225.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	44	cd00642	NULL
2643	66932970	Disease	p.Gly108Asp	600225.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	67	COG0302	NULL
2643	66932972	Disease	p.Gly108Asp	600225.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	44	cd00642	NULL
2643	66932972	Disease	p.Gly108Asp	600225.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	67	COG0302	NULL
2643	399536	Disease	p.Gly108Asp	600225.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	44	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly108Asp	600225.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	67	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Lys224Arg	600225.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE||DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	94	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Lys224Arg	600225.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE||DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	180	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Lys224Arg	600225.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE||DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	162	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Lys224Arg	600225.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE||DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	196	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	66932970	Disease	p.Lys224Arg	600225.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE||DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	184	cd00651	NULL
2643	66932970	Disease	p.Lys224Arg	600225.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE||DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	166	cd00642	NULL
2643	66932972	Disease	p.Lys224Arg	600225.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE||DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
2643	399536	Disease	p.Lys224Arg	600225.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE||DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	94	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Lys224Arg	600225.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE||DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	180	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Lys224Arg	600225.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE||DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	162	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Lys224Arg	600225.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE||DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	196	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ala196Ser	600225.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	64	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ala196Ser	600225.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	115	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ala196Ser	600225.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	134	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ala196Ser	600225.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	168	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	66932970	Disease	p.Ala196Ser	600225.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	64	pfam01227	NULL
2643	66932970	Disease	p.Ala196Ser	600225.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	115	cd00651	NULL
2643	66932970	Disease	p.Ala196Ser	600225.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	134	cd00642	NULL
2643	66932970	Disease	p.Ala196Ser	600225.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	168	COG0302	NULL
2643	66932972	Disease	p.Ala196Ser	600225.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	64	pfam01227	NULL
2643	66932972	Disease	p.Ala196Ser	600225.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	115	cd00651	NULL
2643	66932972	Disease	p.Ala196Ser	600225.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	134	cd00642	NULL
2643	66932972	Disease	p.Ala196Ser	600225.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	168	COG0302	NULL
2643	399536	Disease	p.Ala196Ser	600225.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	64	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ala196Ser	600225.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	115	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ala196Ser	600225.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	134	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ala196Ser	600225.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	168	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ile135Lys	600225.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	10	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ile135Lys	600225.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	72	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ile135Lys	600225.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	103	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	66932970	Disease	p.Ile135Lys	600225.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	10	cd00651	NULL
2643	66932970	Disease	p.Ile135Lys	600225.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	72	cd00642	NULL
2643	66932970	Disease	p.Ile135Lys	600225.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	103	COG0302	NULL
2643	66932972	Disease	p.Ile135Lys	600225.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	10	cd00651	NULL
2643	66932972	Disease	p.Ile135Lys	600225.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	72	cd00642	NULL
2643	66932972	Disease	p.Ile135Lys	600225.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	103	COG0302	NULL
2643	399536	Disease	p.Ile135Lys	600225.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	10	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ile135Lys	600225.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	72	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ile135Lys	600225.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE	OMIM	103	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg249Ser	600225.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	187	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg249Ser	600225.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	221	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	66932970	Disease	p.Arg249Ser	600225.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
2643	66932972	Disease	p.Arg249Ser	600225.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
2643	399536	Disease	p.Arg249Ser	600225.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	187	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg249Ser	600225.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	221	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met211Ile	600225.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	80	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met211Ile	600225.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	138	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met211Ile	600225.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	149	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met211Ile	600225.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	183	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	66932970	Disease	p.Met211Ile	600225.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	93	pfam01227	NULL
2643	66932970	Disease	p.Met211Ile	600225.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	136	cd00651	NULL
2643	66932970	Disease	p.Met211Ile	600225.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	153	cd00642	NULL
2643	66932970	Disease	p.Met211Ile	600225.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	210	COG0302	NULL
2643	66932972	Disease	p.Met211Ile	600225.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	101	pfam01227	NULL
2643	66932972	Disease	p.Met211Ile	600225.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	187	cd00651	NULL
2643	66932972	Disease	p.Met211Ile	600225.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	167	cd00642	NULL
2643	399536	Disease	p.Met211Ile	600225.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	80	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met211Ile	600225.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	138	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met211Ile	600225.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	149	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met211Ile	600225.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	183	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg184His	600225.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	52	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg184His	600225.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	103	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg184His	600225.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	122	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg184His	600225.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	155	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	66932970	Disease	p.Arg184His	600225.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	52	pfam01227	NULL
2643	66932970	Disease	p.Arg184His	600225.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	103	cd00651	NULL
2643	66932970	Disease	p.Arg184His	600225.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	122	cd00642	NULL
2643	66932970	Disease	p.Arg184His	600225.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	155	COG0302	NULL
2643	66932972	Disease	p.Arg184His	600225.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	52	pfam01227	NULL
2643	66932972	Disease	p.Arg184His	600225.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	103	cd00651	NULL
2643	66932972	Disease	p.Arg184His	600225.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	122	cd00642	NULL
2643	66932972	Disease	p.Arg184His	600225.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	155	COG0302	NULL
2643	399536	Disease	p.Arg184His	600225.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	52	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg184His	600225.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	103	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg184His	600225.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	122	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg184His	600225.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B	OMIM	155	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Pro199Ala	600225.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	68	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Pro199Ala	600225.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	126	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Pro199Ala	600225.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	137	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Pro199Ala	600225.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	171	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	66932970	Disease	p.Pro199Ala	600225.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	68	pfam01227	NULL
2643	66932970	Disease	p.Pro199Ala	600225.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	118	cd00651	NULL
2643	66932970	Disease	p.Pro199Ala	600225.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	137	cd00642	NULL
2643	66932970	Disease	p.Pro199Ala	600225.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	171	COG0302	NULL
2643	66932972	Disease	p.Pro199Ala	600225.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	68	pfam01227	NULL
2643	66932972	Disease	p.Pro199Ala	600225.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	126	cd00651	NULL
2643	66932972	Disease	p.Pro199Ala	600225.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	137	cd00642	NULL
2643	66932972	Disease	p.Pro199Ala	600225.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	171	COG0302	NULL
2643	399536	Disease	p.Pro199Ala	600225.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	68	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Pro199Ala	600225.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	126	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Pro199Ala	600225.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	137	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Pro199Ala	600225.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600225	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE	OMIM	171	COG0302	4503949,NP_000152|66932968,NP_001019195
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	17	cd05076	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	22	cd05575	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	21	cd05570	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	26_G	cd06631	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	22	cd05042	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	22	cd05592	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	22	cd05594	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	22	cd05593	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	30	cd05058	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	67	cd00192	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	22	cd05077	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd05078	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	41	cd05037	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	20	cd05041	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd06630	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	24	cd05040	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	22	cd05086	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	22	cd05087	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	26	cd05044	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	22	cd05084	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	20	cd05085	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	22	cd05603	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	20	cd05591	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	22	cd05590	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd05060	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	22	cd05047	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	22	cd05116	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	22	cd05571	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	22	cd05619	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	44_G	cd06656	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	39	cd07865	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	42_G	cd06634	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	42	cd06607	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	46	cd06648	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	29	cd07829	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	42	cd05122	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	28	cd07862	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd08218	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd07860	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd07839	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	57	cd07830	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	28	cd07847	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	105	cd07842	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	29	cd07841	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd07863	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	26	cd07831	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	29_G	cd08216	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	47_G	cd06639	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	48	cd06659	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	34	cd07856	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	36	cd06646	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	36	cd06645	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	43	cd06636	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	52	cd06614	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	69	cd05106	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	49	cd06658	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	65	cd05104	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	33	cd05148	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	30	cd05034	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd08228	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	29	cd08229	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	30	cd08224	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	34	cd07864	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	32	cd06643	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	29	cd05089	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	32	cd06611	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	67	cd05055	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	45	cd05101	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	26	cd05589	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	48	pfam07714	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	28	pfam00069	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	93	smart00219	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	92	smart00221	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	33	cd05080	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	26	cd05075	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd05074	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	37	cd05035	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	28	cd06917	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	50	cd05098	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	44	cd05100	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd06632	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd08221	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd06610	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	50	cd05573	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	37	cd06612	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	31_G	cd07843	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	50	cd07840	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	36	cd06623	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	28	cd07846	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	29	cd06653	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd07837	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	28	cd06605	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	28	cd06622	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	47	cd06619	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	26_G	cd05601	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	192	COG0515	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	30	cd06621	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	73	cd05580	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	28	cd06615	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	71	cd05581	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	28_G	cd07833	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	39	cd06609	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	30	cd06613	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	28	cd06617	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	28	cd05623	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd05600	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	32	cd07849	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	28	cd05612	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	30	cd05073	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	30_G	cd05072	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	34	cd05091	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	30_G	cd05070	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	30	cd05067	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	30	cd05069	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	30_G	cd05068	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	32	cd05090	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	31	cd06616	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	35	cd05092	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	35	cd05574	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	35	cd05093	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	37	cd05102	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	37	cd05054	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	28	cd05059	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	28_G	cd05112	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	28	cd05114	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	28	cd05113	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	29	cd06651	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	36	cd05062	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	34	cd05097	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	67	cd05032	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	39	cd05095	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	29	cd06625	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	36	cd05050	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	30	cd05071	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	56	cd05033	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	35	cd05038	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	31	cd05066	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	31	cd05079	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	29	cd05081	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	31	cd05065	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	32	cd05064	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	49	cd05043	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	33	cd05063	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	33	cd05052	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	36	cd05061	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	48	smart00220	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	31	cd05083	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	32_G	cd05039	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	33	cd05048	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	31	cd05082	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	32_G	cd06608	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	36	cd05111	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	35	cd05049	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	33	cd06637	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	46	cd05096	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	92	cd05046	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	58	cd05056	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	35	cd06624	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	44	cd05053	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	36	cd07866	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	28	cd06626	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	24	cd05582	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	28	cd05584	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	45	cd06638	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	67	cd05107	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	67	cd05105	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	34	cd07845	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	28	cd06629	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd07835	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27_G	cd07838	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	26	cd08222	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	26	cd05118	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	19	cd05607	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	58	cd00180	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	69	cd05572	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	19	cd05608	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	19	cd05585	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd05579	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	22	cd05115	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	23	cd05123	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	19	cd05577	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd07857	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	30	cd06641	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	30	cd06640	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	30	cd06642	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd06628	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	62	cd05051	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	32	cd07844	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	37	cd05103	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd08220	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	42	cd06618	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	36	cd05036	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	36	cd05110	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	42	cd05099	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	32	cd07871	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	56	cd05057	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	36	cd05109	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	36	cd05108	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	34	cd05088	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	39	cd06644	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	47	cd07851	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	44	cd06647	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd07861	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	32	cd06620	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	40	cd06606	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd05578	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	35	cd08528	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	26	cd08529	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	28	cd06627	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	26	cd05605	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	26	cd05631	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	25	cd05616	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	35	cd05094	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd07836	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	30	cd05045	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd08530	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	29	cd07832	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd07853	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	30	cd08215	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd08223	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	25	cd08225	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd08217	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd08219	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	25	cd05587	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	27	cd05615	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	25	cd05583	NULL
7010	88758596	Disease	p.Arg849Trp	600221.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	43	cd07834	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	90	cd05076	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	70	cd05575	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	72	cd05570	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	78	cd06631	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	73	cd05042	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	70	cd05592	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	69	cd05594	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	69	cd05593	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	78	cd05058	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	136	cd00192	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	78	cd05077	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	73	cd05078	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	91	cd05037	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	68	cd05041	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	77	cd06630	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	74	cd05040	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	69	cd05086	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	69	cd05087	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	73	cd05044	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	67	cd05084	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	67	cd05085	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	70	cd05603	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	70	cd05591	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	70	cd05590	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	74_G	cd05060	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	70	cd05047	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	70	cd05116	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	69	cd05571	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	70	cd05619	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	90	cd06656	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	86	cd07865	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	89	cd06634	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	89	cd06607	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	90	cd06648	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	101	cd07829	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	98	cd05122	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	83	cd07862	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	73	cd08218	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	73	cd07860	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	73	cd07839	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	114	cd07830	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	74	cd07847	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	170	cd07842	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	89	cd07841	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	84	cd07863	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	74	cd07831	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	75	cd08216	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	105	cd06639	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	92	cd06659	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	84	cd07856	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	80	cd06646	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	80	cd06645	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	93	cd06636	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	104	cd06614	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	117	cd05106	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	93	cd06658	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	113	cd05104	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	77	cd05148	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	75	cd05034	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	76	cd08228	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	76	cd08229	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	77	cd08224	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	91	cd07864	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	76	cd06643	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	77	cd05089	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	78	cd06611	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	115	cd05055	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	95	cd05101	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	76	cd05589	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	120	pfam07714	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	128	pfam00069	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	236	smart00219	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	364	smart00221	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	82	cd05080	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	78	cd05075	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	78	cd05074	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	86	cd05035	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	82	cd06917	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	98	cd05098	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	92	cd05100	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	93	cd06632	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	73	cd08221	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	75	cd06610	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	129	cd05573	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	85	cd06612	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	88	cd07843	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	117	cd07840	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	98	cd06623	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	75	cd07846	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	78	cd06653	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	75	cd07837	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	78	cd06605	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	73	cd06622	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	94	cd06619	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	75	cd05601	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	377	COG0515	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	78	cd06621	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	123	cd05580	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	73	cd06615	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	126	cd05581	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	96	cd07833	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	87	cd06609	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	76	cd06613	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	74	cd06617	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	75	cd05623	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	76	cd05600	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	81	cd07849	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	75	cd05612	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	75	cd05073	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	75	cd05072	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	82	cd05091	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	74	cd05070	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	74	cd05067	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	74	cd05069	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	75	cd05068	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	81	cd05090	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	84	cd06616	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	81	cd05092	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	95	cd05574	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	81	cd05093	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	86	cd05102	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	86	cd05054	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	73	cd05059	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	73	cd05112	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	73	cd05114	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	73	cd05113	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	78	cd06651	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	83	cd05062	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	93	cd05097	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	116	cd05032	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	96	cd05095	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	80	cd06625	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	82	cd05050	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	74	cd05071	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	103	cd05033	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	92	cd05038	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	79	cd05066	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	82	cd05079	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	81	cd05081	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	79	cd05065	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	80	cd05064	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	106	cd05043	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	81	cd05063	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	76	cd05052	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	83	cd05061	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	291	smart00220	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	72_G	cd05083	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	78	cd05039	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	83	cd05048	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	74	cd05082	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	102	cd06608	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	82	cd05111	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	84	cd05049	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	83	cd06637	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	93	cd05096	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	142	cd05046	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	109_G	cd05056	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	84	cd06624	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	92	cd05053	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	75_G	cd07866	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	76	cd06626	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	72	cd05582	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	78	cd05584	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	94	cd06638	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	115	cd05107	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	115	cd05105	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	82	cd07845	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	82	cd06629	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	80	cd07835	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	82	cd07838	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	77	cd08222	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	82	cd05118	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	67	cd05607	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	241	cd00180	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	116	cd05572	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	67	cd05608	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	67	cd05585	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	69	cd05579	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	68	cd05115	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	108	cd05123	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	70	cd05577	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	69_G	cd07857	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	76	cd06641	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	76	cd06640	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	76	cd06642	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	82	cd06628	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	116	cd05051	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	77	cd07844	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	86	cd05103	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	75	cd08220	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	88	cd06618	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	83	cd05036	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	82	cd05110	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	92	cd05099	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	77	cd07871	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	132	cd05057	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	82	cd05109	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	82	cd05108	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	82	cd05088	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	83	cd06644	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	89_G	cd07851	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	90	cd06647	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	74	cd07861	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	79	cd06620	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	149	cd06606	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	74	cd05578	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	92	cd08528	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	78	cd08529	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	79	cd06627	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	74	cd05605	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	74	cd05631	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	75	cd05616	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	81	cd05094	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	72	cd07836	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	77	cd05045	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	76_G	cd08530	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	86	cd07832	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	63_G	cd07853	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	100	cd08215	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	74	cd08223	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	73	cd08225	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	75	cd08217	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	72	cd08219	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	80	cd05587	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	75	cd05615	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	79	cd05583	NULL
7010	88758596	Disease	p.Tyr897Ser	600221.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600221	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL	OMIM	103	cd07834	NULL
860	226442791	Disease	p.Met175Arg	600211.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600211	CLEIDOCRANIAL DYSPLASIA	OMIM	79	pfam00853	NULL
860	66934969	Disease	p.Met175Arg	600211.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600211	CLEIDOCRANIAL DYSPLASIA	OMIM	93	pfam00853	NULL
860	17368460	Disease	p.Met175Arg	600211.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600211	CLEIDOCRANIAL DYSPLASIA	OMIM	79	pfam00853	226442783,NP_001019801
860	226442791	Disease	p.Ser191Asn	600211.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600211	CLEIDOCRANIAL DYSPLASIA	OMIM	95	pfam00853	NULL
860	66934969	Disease	p.Ser191Asn	600211.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600211	CLEIDOCRANIAL DYSPLASIA	OMIM	109	pfam00853	NULL
860	17368460	Disease	p.Ser191Asn	600211.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600211	CLEIDOCRANIAL DYSPLASIA	OMIM	95	pfam00853	226442783,NP_001019801
860	226442791	Disease	p.Arg225Gln	600211.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600211	CLEIDOCRANIAL DYSPLASIA	OMIM	129	pfam00853	NULL
860	66934969	Disease	p.Arg225Gln	600211.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600211	CLEIDOCRANIAL DYSPLASIA	OMIM	No Domain	N/A	NULL
860	17368460	Disease	p.Arg225Gln	600211.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600211	CLEIDOCRANIAL DYSPLASIA	OMIM	129	pfam00853	226442783,NP_001019801
860	226442791	Disease	p.Arg225Trp	600211.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600211	CLEIDOCRANIAL DYSPLASIA	OMIM	129	pfam00853	NULL
860	66934969	Disease	p.Arg225Trp	600211.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600211	CLEIDOCRANIAL DYSPLASIA	OMIM	No Domain	N/A	NULL
860	17368460	Disease	p.Arg225Trp	600211.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600211	CLEIDOCRANIAL DYSPLASIA	OMIM	129	pfam00853	226442783,NP_001019801
860	226442791	Disease	p.Thr200Ala	600211.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600211	CLEIDOCRANIAL DYSPLASIA||CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY	OMIM	104	pfam00853	NULL
860	66934969	Disease	p.Thr200Ala	600211.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600211	CLEIDOCRANIAL DYSPLASIA||CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY	OMIM	118	pfam00853	NULL
860	17368460	Disease	p.Thr200Ala	600211.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600211	CLEIDOCRANIAL DYSPLASIA||CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY	OMIM	104	pfam00853	226442783,NP_001019801
860	226442791	Disease	p.Arg169Pro	600211.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600211	CLEIDOCRANIAL DYSPLASIA	OMIM	73	pfam00853	NULL
860	66934969	Disease	p.Arg169Pro	600211.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600211	CLEIDOCRANIAL DYSPLASIA	OMIM	87	pfam00853	NULL
860	17368460	Disease	p.Arg169Pro	600211.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600211	CLEIDOCRANIAL DYSPLASIA	OMIM	73	pfam00853	226442783,NP_001019801
3849	239938650	Disease	p.Glu493Asp	600194.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600194	ICHTHYOSIS BULLOSA OF SIEMENS	OMIM	No Domain	N/A	47132620,NP_000414
3849	239938650	Disease	p.Glu493Lys	600194.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600194	ICHTHYOSIS BULLOSA OF SIEMENS||ICHTHYOSIS EXFOLIATIVA	OMIM	No Domain	N/A	47132620,NP_000414
3849	239938650	Disease	p.Gln187Pro	600194.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600194	ICHTHYOSIS BULLOSA OF SIEMENS	OMIM	11	pfam00038	47132620,NP_000414
3849	239938650	Disease	p.Thr485Pro	600194.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600194	ICHTHYOSIS BULLOSA OF SIEMENS	OMIM	378	pfam00038	47132620,NP_000414
3849	239938650	Disease	p.Asn192Tyr	600194.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600194	ICHTHYOSIS BULLOSA OF SIEMENS	OMIM	16	pfam00038	47132620,NP_000414
3849	239938650	Disease	p.Glu482Lys	600194.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600194	ICHTHYOSIS BULLOSA OF SIEMENS	OMIM	375	pfam00038	47132620,NP_000414
3849	239938650	Disease	p.Asn192Asp	600194.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600194	ICHTHYOSIS BULLOSA OF SIEMENS	OMIM	16	pfam00038	47132620,NP_000414
3849	239938650	Disease	p.Asn192Lys	600194.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600194	ICHTHYOSIS BULLOSA OF SIEMENS	OMIM	16	pfam00038	47132620,NP_000414
675	119395734	Disease	p.Leu2510Pro	600185.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600185	FANCONI ANEMIA, COMPLEMENTATION GROUP D1	OMIM	38	pfam09169	NULL
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	27	cd05148	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	27	cd05070	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	27	cd05068	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	66	cd05056	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	26	cd07834	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	32	cd05049	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	26	cd05050	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	37	cd05083	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	27	cd05071	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	6	cd05122	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	43	cd06628	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	29_G	cd05111	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	33	cd05048	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	43	cd05038	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	41	cd05081	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	25	cd05113	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	44	cd05079	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	33	cd05088	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	41	cd05080	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	131	smart00219	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	56	pfam07714	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	32	cd05118	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	24	cd05058	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	28	cd05085	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	23	cd05044	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	64	cd00192	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	35	cd07829	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	27	cd05069	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	42	pfam00069	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	51	cd05037	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	33	cd05036	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	18	cd05040	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	16	cd05084	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	16	cd05041	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	30	cd06613	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	27	cd05073	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	27	cd05067	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	37	cd05039	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	24	cd06648	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	23	cd06614	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	46	cd06606	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	79	smart00220	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	31	cd05065	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	30	cd05052	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	33	cd05062	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	32	cd05032	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	27	cd05072	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	34	cd05051	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	27	cd05066	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	25	cd05114	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	25	cd05112	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	53	cd05033	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	25	cd05059	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	29	cd05063	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	27	cd05034	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	12	cd05042	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	150	smart00221	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	37	cd05082	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	28	cd05064	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	66	cd00180	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	32	cd05043	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	41	cd05053	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	600179.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	93	cd05102	4504217,NP_000171
3000	1345920	Disease	p.Ala52Ser	600179.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	LEBER CONGENITAL AMAUROSIS 1	OMIM	No Domain	N/A	4504217,NP_000171
3000	1345920	Disease	p.Glu837Asp	600179.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	CONE-ROD DYSTROPHY 6	OMIM	30	COG2114	4504217,NP_000171
3000	1345920	Disease	p.Glu837Asp	600179.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	CONE-ROD DYSTROPHY 6	OMIM	523	cd07834	4504217,NP_000171
3000	1345920	Disease	p.Glu837Asp	600179.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	CONE-ROD DYSTROPHY 6	OMIM	334_G	pfam07701	4504217,NP_000171
3000	1345920	Disease	p.Arg838Cys	600179.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	CONE-ROD DYSTROPHY 6	OMIM	31	COG2114	4504217,NP_000171
3000	1345920	Disease	p.Arg838Cys	600179.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	CONE-ROD DYSTROPHY 6	OMIM	524	cd07834	4504217,NP_000171
3000	1345920	Disease	p.Arg838Cys	600179.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	CONE-ROD DYSTROPHY 6	OMIM	334_G	pfam07701	4504217,NP_000171
3000	1345920	Disease	p.Thr839Met	600179.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	CONE-ROD DYSTROPHY 6	OMIM	32	COG2114	4504217,NP_000171
3000	1345920	Disease	p.Thr839Met	600179.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	CONE-ROD DYSTROPHY 6	OMIM	525	cd07834	4504217,NP_000171
3000	1345920	Disease	p.Thr839Met	600179.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	CONE-ROD DYSTROPHY 6	OMIM	334_G	pfam07701	4504217,NP_000171
3000	1345920	Disease	p.Arg838His	600179.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	CONE-ROD DYSTROPHY 6	OMIM	31	COG2114	4504217,NP_000171
3000	1345920	Disease	p.Arg838His	600179.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	CONE-ROD DYSTROPHY 6	OMIM	524	cd07834	4504217,NP_000171
3000	1345920	Disease	p.Arg838His	600179.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	CONE-ROD DYSTROPHY 6	OMIM	334_G	pfam07701	4504217,NP_000171
3000	1345920	Disease	p.Ile949Thr	600179.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	CONE-ROD DYSTROPHY 6	OMIM	263	COG2114	4504217,NP_000171
3000	1345920	Disease	p.Ile949Thr	600179.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	CONE-ROD DYSTROPHY 6	OMIM	273	smart00044	4504217,NP_000171
3000	1345920	Disease	p.Ile949Thr	600179.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	CONE-ROD DYSTROPHY 6	OMIM	117	pfam00211	4504217,NP_000171
3000	1345920	Disease	p.Ile949Thr	600179.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	CONE-ROD DYSTROPHY 6	OMIM	156	cd07302	4504217,NP_000171
3000	1345920	Disease	p.Ile949Thr	600179.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600179	CONE-ROD DYSTROPHY 6	OMIM	89	cd07556	4504217,NP_000171
3718	50403745	Disease	p.Tyr100Cys	600173.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600173	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE	OMIM	369	smart00295	47157315,NP_000206
3718	50403745	Disease	p.Asp169Glu	600173.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600173	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE	OMIM	503	smart00295	47157315,NP_000206
6331	237512980	Disease	p.Arg1644His	600163.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	197	pfam00520	NULL
6331	30089970	Disease	p.Arg1644His	600163.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	159	pfam00520	NULL
6331	237512982	Disease	p.Arg1644His	600163.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	329	pfam00520	NULL
6331	215273881	Disease	p.Arg1644His	600163.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	158	pfam00520	37622907,NP_932173
6331	150417967	Disease	p.Arg1644His	600163.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	158	pfam00520	NULL
6331	150417969	Disease	p.Arg1644His	600163.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	182	pfam00520	NULL
6331	237512980	Disease	p.Asn1325Ser	600163.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	168	pfam00520	NULL
6331	30089970	Disease	p.Asn1325Ser	600163.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	168	pfam00520	NULL
6331	237512982	Disease	p.Asn1325Ser	600163.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	302	pfam00520	NULL
6331	215273881	Disease	p.Asn1325Ser	600163.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	167	pfam00520	37622907,NP_932173
6331	150417967	Disease	p.Asn1325Ser	600163.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	167	pfam00520	NULL
6331	150417969	Disease	p.Asn1325Ser	600163.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	167	pfam00520	NULL
6331	237512980	Disease	p.Arg1232Trp	600163.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	30089970	Disease	p.Arg1232Trp	600163.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	237512982	Disease	p.Arg1232Trp	600163.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	68	pfam00520	NULL
6331	215273881	Disease	p.Arg1232Trp	600163.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	37622907,NP_932173
6331	150417967	Disease	p.Arg1232Trp	600163.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	150417969	Disease	p.Arg1232Trp	600163.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	237512980	Disease	p.Arg1623Gln	600163.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3||LONG QT SYNDROME 3/6, DIGENIC	OMIM	176	pfam00520	NULL
6331	30089970	Disease	p.Arg1623Gln	600163.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3||LONG QT SYNDROME 3/6, DIGENIC	OMIM	128	pfam00520	NULL
6331	237512982	Disease	p.Arg1623Gln	600163.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3||LONG QT SYNDROME 3/6, DIGENIC	OMIM	197	pfam00520	NULL
6331	215273881	Disease	p.Arg1623Gln	600163.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3||LONG QT SYNDROME 3/6, DIGENIC	OMIM	127	pfam00520	37622907,NP_932173
6331	150417967	Disease	p.Arg1623Gln	600163.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3||LONG QT SYNDROME 3/6, DIGENIC	OMIM	127	pfam00520	NULL
6331	150417969	Disease	p.Arg1623Gln	600163.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3||LONG QT SYNDROME 3/6, DIGENIC	OMIM	151	pfam00520	NULL
6331	237512980	Disease	p.Glu1784Lys	600163.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3||BRUGADA SYNDROME 1||SINUS NODE DISEASE	OMIM	No Domain	N/A	NULL
6331	30089970	Disease	p.Glu1784Lys	600163.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3||BRUGADA SYNDROME 1||SINUS NODE DISEASE	OMIM	No Domain	N/A	NULL
6331	237512982	Disease	p.Glu1784Lys	600163.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3||BRUGADA SYNDROME 1||SINUS NODE DISEASE	OMIM	No Domain	N/A	NULL
6331	215273881	Disease	p.Glu1784Lys	600163.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3||BRUGADA SYNDROME 1||SINUS NODE DISEASE	OMIM	No Domain	N/A	37622907,NP_932173
6331	150417967	Disease	p.Glu1784Lys	600163.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3||BRUGADA SYNDROME 1||SINUS NODE DISEASE	OMIM	No Domain	N/A	NULL
6331	150417969	Disease	p.Glu1784Lys	600163.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3||BRUGADA SYNDROME 1||SINUS NODE DISEASE	OMIM	No Domain	N/A	NULL
6331	237512980	Disease	p.Arg1512Trp	600163.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	30089970	Disease	p.Arg1512Trp	600163.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	237512982	Disease	p.Arg1512Trp	600163.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	5	pfam00520	NULL
6331	215273881	Disease	p.Arg1512Trp	600163.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	37622907,NP_932173
6331	150417967	Disease	p.Arg1512Trp	600163.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	150417969	Disease	p.Arg1512Trp	600163.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	237512980	Disease	p.Ala1924Thr	600163.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	30089970	Disease	p.Ala1924Thr	600163.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	237512982	Disease	p.Ala1924Thr	600163.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	215273881	Disease	p.Ala1924Thr	600163.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	37622907,NP_932173
6331	150417967	Disease	p.Ala1924Thr	600163.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	150417969	Disease	p.Ala1924Thr	600163.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	237512980	Disease	p.Ser1710Leu	600163.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL	OMIM	379	pfam00520	NULL
6331	30089970	Disease	p.Ser1710Leu	600163.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL	OMIM	342	pfam00520	NULL
6331	237512982	Disease	p.Ser1710Leu	600163.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL	OMIM	400	pfam00520	NULL
6331	215273881	Disease	p.Ser1710Leu	600163.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL	OMIM	341	pfam00520	37622907,NP_932173
6331	150417967	Disease	p.Ser1710Leu	600163.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL	OMIM	341	pfam00520	NULL
6331	150417969	Disease	p.Ser1710Leu	600163.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL	OMIM	359	pfam00520	NULL
6331	237512980	Disease	p.Ser941Asn	600163.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	No Domain	N/A	NULL
6331	30089970	Disease	p.Ser941Asn	600163.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	No Domain	N/A	NULL
6331	237512982	Disease	p.Ser941Asn	600163.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	No Domain	N/A	NULL
6331	215273881	Disease	p.Ser941Asn	600163.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	No Domain	N/A	37622907,NP_932173
6331	150417967	Disease	p.Ser941Asn	600163.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	No Domain	N/A	NULL
6331	150417969	Disease	p.Ser941Asn	600163.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	No Domain	N/A	NULL
6331	237512980	Disease	p.Gly514Cys	600163.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE	OMIM	88	pfam11933	NULL
6331	30089970	Disease	p.Gly514Cys	600163.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE	OMIM	88	pfam11933	NULL
6331	237512982	Disease	p.Gly514Cys	600163.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE	OMIM	88	pfam11933	NULL
6331	215273881	Disease	p.Gly514Cys	600163.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE	OMIM	88	pfam11933	37622907,NP_932173
6331	150417967	Disease	p.Gly514Cys	600163.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE	OMIM	88	pfam11933	NULL
6331	150417969	Disease	p.Gly514Cys	600163.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE	OMIM	88	pfam11933	NULL
6331	237512980	Disease	p.Asp1595Asn	600163.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA	OMIM	132	pfam00520	NULL
6331	30089970	Disease	p.Asp1595Asn	600163.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA	OMIM	58	pfam00520	NULL
6331	237512982	Disease	p.Asp1595Asn	600163.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA	OMIM	168	pfam00520	NULL
6331	215273881	Disease	p.Asp1595Asn	600163.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA	OMIM	57	pfam00520	37622907,NP_932173
6331	150417967	Disease	p.Asp1595Asn	600163.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA	OMIM	57	pfam00520	NULL
6331	150417969	Disease	p.Asp1595Asn	600163.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA	OMIM	75	pfam00520	NULL
6331	237512980	Disease	p.Gln298Ser	600163.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA	OMIM	268	pfam00520	NULL
6331	30089970	Disease	p.Gln298Ser	600163.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA	OMIM	268	pfam00520	NULL
6331	237512982	Disease	p.Gln298Ser	600163.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA	OMIM	268	pfam00520	NULL
6331	215273881	Disease	p.Gln298Ser	600163.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA	OMIM	268	pfam00520	37622907,NP_932173
6331	150417967	Disease	p.Gln298Ser	600163.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA	OMIM	268	pfam00520	NULL
6331	150417969	Disease	p.Gln298Ser	600163.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA	OMIM	268	pfam00520	NULL
6331	237512980	Disease	p.Ala997Ser	600163.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	84	pfam06512	NULL
6331	30089970	Disease	p.Ala997Ser	600163.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	84	pfam06512	NULL
6331	237512982	Disease	p.Ala997Ser	600163.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	84	pfam06512	NULL
6331	215273881	Disease	p.Ala997Ser	600163.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	84	pfam06512	37622907,NP_932173
6331	150417967	Disease	p.Ala997Ser	600163.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	84	pfam06512	NULL
6331	150417969	Disease	p.Ala997Ser	600163.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	84	pfam06512	NULL
6331	237512980	Disease	p.Arg1826His	600163.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	No Domain	N/A	NULL
6331	30089970	Disease	p.Arg1826His	600163.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	No Domain	N/A	NULL
6331	237512982	Disease	p.Arg1826His	600163.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	No Domain	N/A	NULL
6331	215273881	Disease	p.Arg1826His	600163.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	No Domain	N/A	37622907,NP_932173
6331	150417967	Disease	p.Arg1826His	600163.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	No Domain	N/A	NULL
6331	150417969	Disease	p.Arg1826His	600163.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	No Domain	N/A	NULL
6331	237512980	Disease	p.Arg367His	600163.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	337	pfam00520	NULL
6331	30089970	Disease	p.Arg367His	600163.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	337	pfam00520	NULL
6331	237512982	Disease	p.Arg367His	600163.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	337	pfam00520	NULL
6331	215273881	Disease	p.Arg367His	600163.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	337	pfam00520	37622907,NP_932173
6331	150417967	Disease	p.Arg367His	600163.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	337	pfam00520	NULL
6331	150417969	Disease	p.Arg367His	600163.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	337	pfam00520	NULL
6331	237512980	Disease	p.Ala735Val	600163.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	30089970	Disease	p.Ala735Val	600163.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	237512982	Disease	p.Ala735Val	600163.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	215273881	Disease	p.Ala735Val	600163.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	37622907,NP_932173
6331	150417967	Disease	p.Ala735Val	600163.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	150417969	Disease	p.Ala735Val	600163.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	237512980	Disease	p.Arg1193Gln	600163.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1||LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO	OMIM	421	pfam06512	NULL
6331	30089970	Disease	p.Arg1193Gln	600163.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1||LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO	OMIM	421	pfam06512	NULL
6331	237512982	Disease	p.Arg1193Gln	600163.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1||LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO	OMIM	7	pfam00520	NULL
6331	215273881	Disease	p.Arg1193Gln	600163.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1||LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO	OMIM	420	pfam06512	37622907,NP_932173
6331	150417967	Disease	p.Arg1193Gln	600163.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1||LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO	OMIM	420	pfam06512	NULL
6331	150417969	Disease	p.Arg1193Gln	600163.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1||LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO	OMIM	420	pfam06512	NULL
6331	237512980	Disease	p.Ser1103Tyr	600163.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO||SUDDEN INFANT DEATH SYNDROME	OMIM	270	pfam06512	NULL
6331	30089970	Disease	p.Ser1103Tyr	600163.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO||SUDDEN INFANT DEATH SYNDROME	OMIM	270	pfam06512	NULL
6331	237512982	Disease	p.Ser1103Tyr	600163.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO||SUDDEN INFANT DEATH SYNDROME	OMIM	381	pfam06512	NULL
6331	215273881	Disease	p.Ser1103Tyr	600163.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO||SUDDEN INFANT DEATH SYNDROME	OMIM	269	pfam06512	37622907,NP_932173
6331	150417967	Disease	p.Ser1103Tyr	600163.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO||SUDDEN INFANT DEATH SYNDROME	OMIM	269	pfam06512	NULL
6331	150417969	Disease	p.Ser1103Tyr	600163.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO||SUDDEN INFANT DEATH SYNDROME	OMIM	269	pfam06512	NULL
6331	237512980	Disease	p.Pro1298Leu	600163.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	129	pfam00520	NULL
6331	30089970	Disease	p.Pro1298Leu	600163.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	129	pfam00520	NULL
6331	237512982	Disease	p.Pro1298Leu	600163.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	195	pfam00520	NULL
6331	215273881	Disease	p.Pro1298Leu	600163.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	128	pfam00520	37622907,NP_932173
6331	150417967	Disease	p.Pro1298Leu	600163.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	128	pfam00520	NULL
6331	150417969	Disease	p.Pro1298Leu	600163.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	128	pfam00520	NULL
6331	237512980	Disease	p.Gly1408Arg	600163.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE||BRUGADA SYNDROME 1||CARDIAC CONDUCTION DEFECT, NONSPECIFIC	OMIM	332	pfam00520	NULL
6331	30089970	Disease	p.Gly1408Arg	600163.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE||BRUGADA SYNDROME 1||CARDIAC CONDUCTION DEFECT, NONSPECIFIC	OMIM	332	pfam00520	NULL
6331	237512982	Disease	p.Gly1408Arg	600163.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE||BRUGADA SYNDROME 1||CARDIAC CONDUCTION DEFECT, NONSPECIFIC	OMIM	400	pfam00520	NULL
6331	215273881	Disease	p.Gly1408Arg	600163.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE||BRUGADA SYNDROME 1||CARDIAC CONDUCTION DEFECT, NONSPECIFIC	OMIM	331	pfam00520	37622907,NP_932173
6331	150417967	Disease	p.Gly1408Arg	600163.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE||BRUGADA SYNDROME 1||CARDIAC CONDUCTION DEFECT, NONSPECIFIC	OMIM	331	pfam00520	NULL
6331	150417969	Disease	p.Gly1408Arg	600163.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE||BRUGADA SYNDROME 1||CARDIAC CONDUCTION DEFECT, NONSPECIFIC	OMIM	331	pfam00520	NULL
6331	237512980	Disease	p.Thr220Ile	600163.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	131	pfam00520	NULL
6331	30089970	Disease	p.Thr220Ile	600163.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	131	pfam00520	NULL
6331	237512982	Disease	p.Thr220Ile	600163.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	131	pfam00520	NULL
6331	215273881	Disease	p.Thr220Ile	600163.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	131	pfam00520	37622907,NP_932173
6331	150417967	Disease	p.Thr220Ile	600163.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	131	pfam00520	NULL
6331	150417969	Disease	p.Thr220Ile	600163.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	131	pfam00520	NULL
6331	237512980	Disease	p.Tyr1795Cys	600163.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	No Domain	N/A	NULL
6331	30089970	Disease	p.Tyr1795Cys	600163.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	No Domain	N/A	NULL
6331	237512982	Disease	p.Tyr1795Cys	600163.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	No Domain	N/A	NULL
6331	215273881	Disease	p.Tyr1795Cys	600163.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	No Domain	N/A	37622907,NP_932173
6331	150417967	Disease	p.Tyr1795Cys	600163.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	No Domain	N/A	NULL
6331	150417969	Disease	p.Tyr1795Cys	600163.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 3	OMIM	No Domain	N/A	NULL
6331	237512980	Disease	p.Tyr1795His	600163.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	30089970	Disease	p.Tyr1795His	600163.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	237512982	Disease	p.Tyr1795His	600163.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	215273881	Disease	p.Tyr1795His	600163.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	37622907,NP_932173
6331	150417967	Disease	p.Tyr1795His	600163.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	150417969	Disease	p.Tyr1795His	600163.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	No Domain	N/A	NULL
6331	237512980	Disease	p.Thr512Ile	600163.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA	OMIM	86	pfam11933	NULL
6331	30089970	Disease	p.Thr512Ile	600163.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA	OMIM	86	pfam11933	NULL
6331	237512982	Disease	p.Thr512Ile	600163.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA	OMIM	86	pfam11933	NULL
6331	215273881	Disease	p.Thr512Ile	600163.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA	OMIM	86	pfam11933	37622907,NP_932173
6331	150417967	Disease	p.Thr512Ile	600163.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA	OMIM	86	pfam11933	NULL
6331	150417969	Disease	p.Thr512Ile	600163.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA	OMIM	86	pfam11933	NULL
6331	237512980	Disease	p.Gly1262Ser	600163.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	23	pfam00520	NULL
6331	30089970	Disease	p.Gly1262Ser	600163.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	23	pfam00520	NULL
6331	237512982	Disease	p.Gly1262Ser	600163.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	149	pfam00520	NULL
6331	215273881	Disease	p.Gly1262Ser	600163.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	22	pfam00520	37622907,NP_932173
6331	150417967	Disease	p.Gly1262Ser	600163.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	22	pfam00520	NULL
6331	150417969	Disease	p.Gly1262Ser	600163.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	22	pfam00520	NULL
6331	237512980	Disease	p.Glu1053Lys	600163.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	201	pfam06512	NULL
6331	30089970	Disease	p.Glu1053Lys	600163.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	201	pfam06512	NULL
6331	237512982	Disease	p.Glu1053Lys	600163.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	201	pfam06512	NULL
6331	215273881	Disease	p.Glu1053Lys	600163.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	201	pfam06512	37622907,NP_932173
6331	150417967	Disease	p.Glu1053Lys	600163.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	201	pfam06512	NULL
6331	150417969	Disease	p.Glu1053Lys	600163.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME 1	OMIM	201	pfam06512	NULL
6331	237512980	Disease	p.Asp1275Asn	600163.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIOMYOPATHY, DILATED, 1E||ATRIAL STANDSTILL	OMIM	58	pfam00520	NULL
6331	30089970	Disease	p.Asp1275Asn	600163.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIOMYOPATHY, DILATED, 1E||ATRIAL STANDSTILL	OMIM	58	pfam00520	NULL
6331	237512982	Disease	p.Asp1275Asn	600163.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIOMYOPATHY, DILATED, 1E||ATRIAL STANDSTILL	OMIM	172	pfam00520	NULL
6331	215273881	Disease	p.Asp1275Asn	600163.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIOMYOPATHY, DILATED, 1E||ATRIAL STANDSTILL	OMIM	57	pfam00520	37622907,NP_932173
6331	150417967	Disease	p.Asp1275Asn	600163.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIOMYOPATHY, DILATED, 1E||ATRIAL STANDSTILL	OMIM	57	pfam00520	NULL
6331	150417969	Disease	p.Asp1275Asn	600163.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIOMYOPATHY, DILATED, 1E||ATRIAL STANDSTILL	OMIM	57	pfam00520	NULL
6331	237512980	Disease	p.Asp1819Asn	600163.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 2/3, DIGENIC	OMIM	No Domain	N/A	NULL
6331	30089970	Disease	p.Asp1819Asn	600163.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 2/3, DIGENIC	OMIM	No Domain	N/A	NULL
6331	237512982	Disease	p.Asp1819Asn	600163.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 2/3, DIGENIC	OMIM	No Domain	N/A	NULL
6331	215273881	Disease	p.Asp1819Asn	600163.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 2/3, DIGENIC	OMIM	No Domain	N/A	37622907,NP_932173
6331	150417967	Disease	p.Asp1819Asn	600163.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 2/3, DIGENIC	OMIM	No Domain	N/A	NULL
6331	150417969	Disease	p.Asp1819Asn	600163.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	LONG QT SYNDROME 2/3, DIGENIC	OMIM	No Domain	N/A	NULL
6331	237512980	Disease	p.Thr220Ile	600163.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIOMYOPATHY, DILATED, 1E	OMIM	131	pfam00520	NULL
6331	30089970	Disease	p.Thr220Ile	600163.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIOMYOPATHY, DILATED, 1E	OMIM	131	pfam00520	NULL
6331	237512982	Disease	p.Thr220Ile	600163.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIOMYOPATHY, DILATED, 1E	OMIM	131	pfam00520	NULL
6331	215273881	Disease	p.Thr220Ile	600163.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIOMYOPATHY, DILATED, 1E	OMIM	131	pfam00520	37622907,NP_932173
6331	150417967	Disease	p.Thr220Ile	600163.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIOMYOPATHY, DILATED, 1E	OMIM	131	pfam00520	NULL
6331	150417969	Disease	p.Thr220Ile	600163.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIOMYOPATHY, DILATED, 1E	OMIM	131	pfam00520	NULL
6331	237512980	Disease	p.Asp1595His	600163.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIOMYOPATHY, DILATED, 1E	OMIM	132	pfam00520	NULL
6331	30089970	Disease	p.Asp1595His	600163.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIOMYOPATHY, DILATED, 1E	OMIM	58	pfam00520	NULL
6331	237512982	Disease	p.Asp1595His	600163.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIOMYOPATHY, DILATED, 1E	OMIM	168	pfam00520	NULL
6331	215273881	Disease	p.Asp1595His	600163.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIOMYOPATHY, DILATED, 1E	OMIM	57	pfam00520	37622907,NP_932173
6331	150417967	Disease	p.Asp1595His	600163.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIOMYOPATHY, DILATED, 1E	OMIM	57	pfam00520	NULL
6331	150417969	Disease	p.Asp1595His	600163.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	CARDIOMYOPATHY, DILATED, 1E	OMIM	75	pfam00520	NULL
6331	237512980	Disease	p.Val232Ile	600163.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME	OMIM	149	pfam00520	NULL
6331	30089970	Disease	p.Val232Ile	600163.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME	OMIM	149	pfam00520	NULL
6331	237512982	Disease	p.Val232Ile	600163.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME	OMIM	149	pfam00520	NULL
6331	215273881	Disease	p.Val232Ile	600163.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME	OMIM	149	pfam00520	37622907,NP_932173
6331	150417967	Disease	p.Val232Ile	600163.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME	OMIM	149	pfam00520	NULL
6331	150417969	Disease	p.Val232Ile	600163.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163	BRUGADA SYNDROME	OMIM	149	pfam00520	NULL
3778	46396283	Disease	p.Asp434Gly	600150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600150	GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA	OMIM	No Domain	N/A	238624130,NP_001154824
3778	238624132	Disease	p.Asp434Gly	600150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600150	GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA	OMIM	No Domain	N/A	NULL
3778	62388890	Disease	p.Asp434Gly	600150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600150	GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA	OMIM	No Domain	N/A	NULL
3778	26638650	Disease	p.Asp434Gly	600150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600150	GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA	OMIM	No Domain	N/A	NULL
1387	116241283	Disease	p.Arg1378Pro	600140.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME	OMIM	39	pfam08214	119943104,NP_004371
1387	119943102	Disease	p.Arg1378Pro	600140.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME	OMIM	130	pfam08214	NULL
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	117	cd05500	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	94	cd05497	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	98	cd05511	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	203	cd04369	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	90	cd05519	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	127	cd05528	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	84	cd05512	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	178	smart00297	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	186	cd05529	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	93	cd05524	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	95	cd05504	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	89	cd05496	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	108	cd05502	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	90	cd05498	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	175	pfam00439	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	94	cd05522	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	90	cd05515	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	108	cd05517	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	86	cd05506	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	272	COG5076	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	83	cd05505	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	95	cd05510	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	95	cd05520	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	108	cd05516	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	87	cd05509	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	84	cd05513	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	91	cd05499	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	91	cd05521	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	90	cd05518	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	92	cd05503	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	89	cd05495	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	101	cd05501	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	109	cd05507	119943104,NP_004371
1387	119943102	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	33	pfam06001	NULL
1387	119943102	Disease	p.Tyr1175Cys	600140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE	OMIM	293_G	COG5076	NULL
1387	116241283	Disease	p.Glu1278Lys	600140.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME	OMIM	367	COG5076	119943104,NP_004371
1387	119943102	Disease	p.Glu1278Lys	600140.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600140	RUBINSTEIN-TAYBI SYNDROME	OMIM	413	COG5076	NULL
6442	13431858	Disease	p.Arg98His	600119.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600119	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D	OMIM	106	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Arg98His	600119.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600119	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D	OMIM	120	smart00736	4506911,NP_000014
6442	208973226	Disease	p.Arg98His	600119.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600119	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D	OMIM	106	pfam05510	NULL
6442	208973226	Disease	p.Arg98His	600119.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600119	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D	OMIM	120	smart00736	NULL
6442	13431858	Disease	p.Val175Ala	600119.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600119	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D	OMIM	191	pfam05510	4506911,NP_000014
6442	208973226	Disease	p.Val175Ala	600119.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600119	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D	OMIM	191	pfam05510	NULL
6442	13431858	Disease	p.Arg77Cys	600119.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600119	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D	OMIM	85	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Arg77Cys	600119.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600119	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D	OMIM	82	smart00736	4506911,NP_000014
6442	208973226	Disease	p.Arg77Cys	600119.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600119	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D	OMIM	85	pfam05510	NULL
6442	208973226	Disease	p.Arg77Cys	600119.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600119	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D	OMIM	82	smart00736	NULL
6442	13431858	Disease	p.Glu137Gly	600119.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600119	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D	OMIM	148	pfam05510	4506911,NP_000014
6442	208973226	Disease	p.Glu137Gly	600119.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600119	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D	OMIM	148	pfam05510	NULL
6442	13431858	Disease	p.Arg284Cys	600119.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600119	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D	OMIM	321	pfam05510	4506911,NP_000014
6442	208973226	Disease	p.Arg284Cys	600119.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600119	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D	OMIM	No Domain	N/A	NULL
6507	1169458	Disease	p.Pro290Arg	600111.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600111	EPISODIC ATAXIA, TYPE 6	OMIM	677	pfam00375	169790839,NP_004163
6507	1169458	Disease	p.Pro290Arg	600111.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600111	EPISODIC ATAXIA, TYPE 6	OMIM	202	COG3633	169790839,NP_004163
6507	1169458	Disease	p.Pro290Arg	600111.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600111	EPISODIC ATAXIA, TYPE 6	OMIM	249	COG1823	169790839,NP_004163
6507	1169458	Disease	p.Pro290Arg	600111.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600111	EPISODIC ATAXIA, TYPE 6	OMIM	264	COG1301	169790839,NP_004163
6507	262359916	Disease	p.Pro290Arg	600111.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600111	EPISODIC ATAXIA, TYPE 6	OMIM	No Domain	N/A	NULL
6507	262359914	Disease	p.Pro290Arg	600111.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600111	EPISODIC ATAXIA, TYPE 6	OMIM	677	pfam00375	NULL
6507	262359914	Disease	p.Pro290Arg	600111.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600111	EPISODIC ATAXIA, TYPE 6	OMIM	202	COG3633	NULL
6507	262359914	Disease	p.Pro290Arg	600111.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600111	EPISODIC ATAXIA, TYPE 6	OMIM	249	COG1823	NULL
6507	262359914	Disease	p.Pro290Arg	600111.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600111	EPISODIC ATAXIA, TYPE 6	OMIM	264	COG1301	NULL
6507	1169458	Disease	p.Cys186Ser	600111.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600111	EPISODIC ATAXIA, TYPE 6	OMIM	507	pfam00375	169790839,NP_004163
6507	1169458	Disease	p.Cys186Ser	600111.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600111	EPISODIC ATAXIA, TYPE 6	OMIM	121	COG3633	169790839,NP_004163
6507	1169458	Disease	p.Cys186Ser	600111.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600111	EPISODIC ATAXIA, TYPE 6	OMIM	149_G	COG1823	169790839,NP_004163
6507	1169458	Disease	p.Cys186Ser	600111.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600111	EPISODIC ATAXIA, TYPE 6	OMIM	183_G	COG1301	169790839,NP_004163
6507	262359916	Disease	p.Cys186Ser	600111.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600111	EPISODIC ATAXIA, TYPE 6	OMIM	No Domain	N/A	NULL
6507	262359914	Disease	p.Cys186Ser	600111.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600111	EPISODIC ATAXIA, TYPE 6	OMIM	507	pfam00375	NULL
6507	262359914	Disease	p.Cys186Ser	600111.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600111	EPISODIC ATAXIA, TYPE 6	OMIM	121	COG3633	NULL
6507	262359914	Disease	p.Cys186Ser	600111.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600111	EPISODIC ATAXIA, TYPE 6	OMIM	149_G	COG1823	NULL
6507	262359914	Disease	p.Cys186Ser	600111.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600111	EPISODIC ATAXIA, TYPE 6	OMIM	183_G	COG1301	NULL
4322	1168998	Disease	p.Phe56Ser	600108.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600108	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE	OMIM	35	pfam01471	4505209,NP_002418
4322	1168998	Disease	p.Phe55Ser	600108.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600108	METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT	OMIM	34	pfam01471	4505209,NP_002418
4322	1168998	Disease	p.Met72Thr	600108.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600108	METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT	OMIM	54	pfam01471	4505209,NP_002418
4322	1168998	Disease	p.His213Asn	600108.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600108	METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL RECESSIVE	OMIM	199	cd04279	4505209,NP_002418
4322	1168998	Disease	p.His213Asn	600108.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600108	METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL RECESSIVE	OMIM	220	cd04277	4505209,NP_002418
4322	1168998	Disease	p.His213Asn	600108.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600108	METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL RECESSIVE	OMIM	181	cd04268	4505209,NP_002418
4322	1168998	Disease	p.His213Asn	600108.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600108	METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL RECESSIVE	OMIM	227	smart00235	4505209,NP_002418
4322	1168998	Disease	p.His213Asn	600108.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600108	METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL RECESSIVE	OMIM	335	pfam00413	4505209,NP_002418
4322	1168998	Disease	p.His213Asn	600108.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600108	METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL RECESSIVE	OMIM	333	cd04278	4505209,NP_002418
4322	1168998	Disease	p.His213Asn	600108.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600108	METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL RECESSIVE	OMIM	241	cd00203	4505209,NP_002418
4036	160332309	Disease	p.Tyr2522His	600073.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600073	DONNAI-BARROW SYNDROME	OMIM	4	pfam00058	126012573,NP_004516
4036	160332309	Disease	p.Tyr2522His	600073.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600073	DONNAI-BARROW SYNDROME	OMIM	28	smart00135	126012573,NP_004516
3689	124056465	Disease	p.Arg593Cys	600065.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	19	pfam07974	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Arg593Cys	600065.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	19	pfam07974	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Lys196Thr	600065.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	250	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Lys196Thr	600065.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	308	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Lys196Thr	600065.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	187	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Lys196Thr	600065.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	250	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Lys196Thr	600065.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	308	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Lys196Thr	600065.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	187	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Leu149Pro	600065.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	200	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Leu149Pro	600065.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	256	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Leu149Pro	600065.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	72	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Leu149Pro	600065.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	200	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Leu149Pro	600065.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	256	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Leu149Pro	600065.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	72	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly169Arg	600065.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	220	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly169Arg	600065.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	277	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly169Arg	600065.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	138	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly169Arg	600065.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	220	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly169Arg	600065.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	277	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly169Arg	600065.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	138	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Arg586Trp	600065.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	5	pfam07974	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Arg586Trp	600065.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	5	pfam07974	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Asn351Ser	600065.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	422	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Asn351Ser	600065.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	580	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Asn351Ser	600065.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	670	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Asn351Ser	600065.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	422	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Asn351Ser	600065.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	580	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Asn351Ser	600065.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	670	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Pro178Leu	600065.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	229	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Pro178Leu	600065.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	286	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Pro178Leu	600065.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	164	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Pro178Leu	600065.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	229	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Pro178Leu	600065.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	286	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Pro178Leu	600065.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	164	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Asp128Asn	600065.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	179	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Asp128Asn	600065.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	235	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Asp128Asn	600065.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	3	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Asp128Asn	600065.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	179	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Asp128Asn	600065.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	235	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Asp128Asn	600065.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	3	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly284Ser	600065.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	343	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly284Ser	600065.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	435	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly284Ser	600065.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	457	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly284Ser	600065.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	343	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly284Ser	600065.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	435	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly284Ser	600065.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	457	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Ser138Pro	600065.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	189	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Ser138Pro	600065.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	245	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Ser138Pro	600065.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	16	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Ser138Pro	600065.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	189	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Ser138Pro	600065.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	245	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Ser138Pro	600065.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	16	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly273Arg	600065.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	330	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly273Arg	600065.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	422	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly273Arg	600065.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	446	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly273Arg	600065.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	330	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly273Arg	600065.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	422	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly273Arg	600065.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600065	LEUKOCYTE ADHESION DEFICIENCY	OMIM	446	smart00327	188595677,NP_001120963|89191865,NP_000202
1261	13959682	Disease	p.Pro163Leu	600053.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	No Domain	N/A	4502917,NP_001289
1261	120433600	Disease	p.Pro163Leu	600053.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	No Domain	N/A	NULL
1261	13959682	Disease	p.Arg283Trp	600053.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	139	pfam00520	4502917,NP_001289
1261	120433600	Disease	p.Arg283Trp	600053.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	170	pfam00520	NULL
1261	13959682	Disease	p.Arg283Gln	600053.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	139	pfam00520	4502917,NP_001289
1261	120433600	Disease	p.Arg283Gln	600053.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	170	pfam00520	NULL
1261	13959682	Disease	p.Gly557Arg	600053.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	143	smart00100	4502917,NP_001289
1261	13959682	Disease	p.Gly557Arg	600053.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	125	cd00038	4502917,NP_001289
1261	13959682	Disease	p.Gly557Arg	600053.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	98	pfam00027	4502917,NP_001289
1261	120433600	Disease	p.Gly557Arg	600053.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	201	smart00100	NULL
1261	120433600	Disease	p.Gly557Arg	600053.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	146	cd00038	NULL
1261	120433600	Disease	p.Gly557Arg	600053.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	122	pfam00027	NULL
1261	13959682	Disease	p.Thr291Arg	600053.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	150	pfam00520	4502917,NP_001289
1261	120433600	Disease	p.Thr291Arg	600053.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	179	pfam00520	NULL
1261	13959682	Disease	p.Phe547Leu	600053.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	129	smart00100	4502917,NP_001289
1261	13959682	Disease	p.Phe547Leu	600053.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	101	cd00038	4502917,NP_001289
1261	13959682	Disease	p.Phe547Leu	600053.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	87	pfam00027	4502917,NP_001289
1261	120433600	Disease	p.Phe547Leu	600053.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	170	smart00100	NULL
1261	120433600	Disease	p.Phe547Leu	600053.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	133	cd00038	NULL
1261	120433600	Disease	p.Phe547Leu	600053.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	106	pfam00027	NULL
1261	13959682	Disease	p.Arg411Trp	600053.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	No Domain	N/A	4502917,NP_001289
1261	120433600	Disease	p.Arg411Trp	600053.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	No Domain	N/A	NULL
1261	13959682	Disease	p.Val529Met	600053.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	61	smart00100	4502917,NP_001289
1261	13959682	Disease	p.Val529Met	600053.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	61	cd00038	4502917,NP_001289
1261	13959682	Disease	p.Val529Met	600053.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	33	pfam00027	4502917,NP_001289
1261	120433600	Disease	p.Val529Met	600053.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	129	smart00100	NULL
1261	120433600	Disease	p.Val529Met	600053.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	101	cd00038	NULL
1261	120433600	Disease	p.Val529Met	600053.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	87	pfam00027	NULL
1261	13959682	Disease	p.Arg277Cys	600053.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	130	pfam00520	4502917,NP_001289
1261	120433600	Disease	p.Arg277Cys	600053.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	159	pfam00520	NULL
1261	13959682	Disease	p.Arg436Trp	600053.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	No Domain	N/A	4502917,NP_001289
1261	120433600	Disease	p.Arg436Trp	600053.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053	ROD MONOCHROMACY	OMIM	No Domain	N/A	NULL
19	308153644	Disease	p.Cys1417Arg	600046.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	No Domain	N/A	21536376,NP_005493
19	308153644	Disease	p.Gln537Arg	600046.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	67	COG2274	21536376,NP_005493
19	308153644	Disease	p.Gln537Arg	600046.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	43	COG1132	21536376,NP_005493
19	308153644	Disease	p.Asn875Ser	600046.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	318	COG4987	21536376,NP_005493
19	308153644	Disease	p.Asn875Ser	600046.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	6	COG1119	21536376,NP_005493
19	308153644	Disease	p.Asn875Ser	600046.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	253_G	COG5265	21536376,NP_005493
19	308153644	Disease	p.Asn875Ser	600046.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	482	COG2274	21536376,NP_005493
19	308153644	Disease	p.Asn875Ser	600046.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	300	COG4988	21536376,NP_005493
19	308153644	Disease	p.Asn875Ser	600046.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	982	COG1132	21536376,NP_005493
19	308153644	Disease	p.Ala877Val	600046.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	320	COG4987	21536376,NP_005493
19	308153644	Disease	p.Ala877Val	600046.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	8	COG1119	21536376,NP_005493
19	308153644	Disease	p.Ala877Val	600046.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	253_G	COG5265	21536376,NP_005493
19	308153644	Disease	p.Ala877Val	600046.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	484	COG2274	21536376,NP_005493
19	308153644	Disease	p.Ala877Val	600046.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	300_G	COG4988	21536376,NP_005493
19	308153644	Disease	p.Ala877Val	600046.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	984	COG1132	21536376,NP_005493
19	308153644	Disease	p.Trp530Ser	600046.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	60	COG2274	21536376,NP_005493
19	308153644	Disease	p.Trp530Ser	600046.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	36	COG1132	21536376,NP_005493
19	308153644	Disease	p.Ser1446Leu	600046.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	No Domain	N/A	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	46	COG1117	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	43	cd03369	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	42	COG1137	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	49	cd03248	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	46	COG4525	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	69	COG4175	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	41	COG4598	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	41	COG1125	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	40	COG0411	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	64	COG1131	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	43	cd03258	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	38	COG2884	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	45	COG0444	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	41	cd03244	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	36	COG4559	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	52	COG1136	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	43	COG1135	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	52	cd03257	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	39	cd03289	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	34	COG3840	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	390	COG4987	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	87	COG1119	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	60	COG4608	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	41	COG3845	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	42	COG1121	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	48	COG4167	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	56	COG1123	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	66	cd03215	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	79	COG1134	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	49	COG1124	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	41	COG3638	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	44	COG1116	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	38	COG4619	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	40	COG0488	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	61	COG3839	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	51	cd03213	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	44	COG1122	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	48	COG4674	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	42	COG4107	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	52	COG1129	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	47	COG4181	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	62	cd03227	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	45	cd03297	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	52	COG3842	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	301	COG5265	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	34	COG4138	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	577	COG2274	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	52	cd03225	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	92	cd00267	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	47	COG0396	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03226	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03235	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	51	cd03214	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	370	COG4988	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	40	COG4555	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	41	COG1101	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	36	COG4604	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	42	cd03293	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	45	cd03216	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03224	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	56	cd03253	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	38	cd03249	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	38	cd03252	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	49	cd03234	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	41	cd03245	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	58	cd03301	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	59	cd03259	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	77	cd03220	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03247	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	49	cd03266	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	56	cd03264	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	36	cd03268	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	56	cd03267	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	35	cd03269	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	63	cd03263	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	35	cd03265	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	38	cd03254	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	39	cd03300	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03295	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	38	COG4136	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	41	cd03221	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	35	cd03231	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	59	cd03229	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03290	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	107	cd03250	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	69	cd03228	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03219	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	38	cd03256	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03217	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	34	cd03299	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	64	cd03294	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03261	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	39	cd03260	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	35	cd03222	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	35	cd03218	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	39	COG0410	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	40	cd03251	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	59	cd03230	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	48	cd03255	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03292	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	40	cd03246	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03262	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	51	cd03223	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	56	COG1127	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	1215	COG1132	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	12	smart00382	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	47	COG1126	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	COG4161	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	43	COG1120	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	38	cd03296	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	COG4152	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	41	COG4133	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	53	COG1118	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	600046.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	33	cd03298	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	46	COG1117	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	43	cd03369	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	42	COG1137	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	49	cd03248	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	46	COG4525	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	69	COG4175	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	41	COG4598	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	41	COG1125	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	40	COG0411	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	64	COG1131	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	43	cd03258	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	38	COG2884	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	45	COG0444	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	41	cd03244	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	36	COG4559	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	52	COG1136	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	43	COG1135	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	52	cd03257	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	39	cd03289	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	34	COG3840	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	390	COG4987	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	87	COG1119	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	60	COG4608	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	41	COG3845	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	42	COG1121	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	48	COG4167	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	56	COG1123	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	66	cd03215	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	79	COG1134	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	49	COG1124	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	41	COG3638	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	44	COG1116	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	38	COG4619	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	40	COG0488	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	61	COG3839	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	51	cd03213	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	44	COG1122	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	48	COG4674	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	42	COG4107	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	52	COG1129	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	47	COG4181	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	62	cd03227	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	45	cd03297	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	52	COG3842	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	301	COG5265	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	34	COG4138	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	577	COG2274	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	52	cd03225	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	92	cd00267	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	47	COG0396	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03226	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03235	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	51	cd03214	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	370	COG4988	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	40	COG4555	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	41	COG1101	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	36	COG4604	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	42	cd03293	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	45	cd03216	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03224	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	56	cd03253	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	38	cd03249	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	38	cd03252	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	49	cd03234	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	41	cd03245	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	58	cd03301	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	59	cd03259	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	77	cd03220	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03247	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	49	cd03266	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	56	cd03264	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	36	cd03268	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	56	cd03267	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	35	cd03269	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	63	cd03263	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	35	cd03265	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	38	cd03254	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	39	cd03300	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03295	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	38	COG4136	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	41	cd03221	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	35	cd03231	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	59	cd03229	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03290	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	107	cd03250	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	69	cd03228	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03219	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	38	cd03256	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03217	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	34	cd03299	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	64	cd03294	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03261	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	39	cd03260	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	35	cd03222	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	35	cd03218	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	39	COG0410	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	40	cd03251	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	59	cd03230	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	48	cd03255	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03292	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	40	cd03246	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	cd03262	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	51	cd03223	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	56	COG1127	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	1215	COG1132	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	12	smart00382	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	47	COG1126	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	COG4161	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	43	COG1120	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	38	cd03296	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	37	COG4152	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	41	COG4133	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	53	COG1118	21536376,NP_005493
19	308153644	Disease	p.Asn935His	600046.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	33	cd03298	21536376,NP_005493
19	308153644	Disease	p.Arg1680Trp	600046.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE, VARIANT	OMIM	No Domain	N/A	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	242	COG1117	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	242	cd03369	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	218	COG1137	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	277	cd03248	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	208	COG4525	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	243	COG4175	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	221	COG4598	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	211	COG1125	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	273	COG0411	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	270	COG1131	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	220	cd03258	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	207	COG2884	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	532	COG0444	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	253	cd03244	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	212	COG4559	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	245	COG1136	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	236	COG1135	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	484	cd03257	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	221	cd03289	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	198	COG3840	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	561	COG4987	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	275	COG1119	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	813	COG4608	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	227	COG3845	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	223	COG1121	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	218	COG4167	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	323	COG1123	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	373	cd03215	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	233	COG1134	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	318	COG1124	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	225	COG3638	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	226	COG1116	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	208	COG4619	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	280	COG0488	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	492	COG3839	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	315	cd03213	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	555	COG1122	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	229	COG4674	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	221	COG4107	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	261	COG1129	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	217	COG4181	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	1341	cd03227	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	218	cd03297	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	440	COG3842	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	470	COG5265	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	206	COG4138	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	746	COG2274	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	247	cd03225	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	1374	cd00267	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	291	COG0396	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	224	cd03226	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	218	cd03235	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	282	cd03214	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	541	COG4988	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	205	COG4555	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	217	COG1101	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	231	COG4604	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	248	cd03293	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	246	cd03216	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	226	cd03224	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	231	cd03253	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	338_G	cd03249	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	205	cd03252	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	319	cd03234	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	209	cd03245	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	267	cd03301	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	239	cd03259	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	236	cd03220	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	210	cd03247	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	217	cd03266	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	224	cd03264	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	205	cd03268	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	225	cd03267	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	197	cd03269	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	291	cd03263	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	200	cd03265	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	207	cd03254	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	203	cd03300	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	205	cd03295	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	205	COG4136	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	322	cd03221	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	194	cd03231	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	253	cd03229	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	220	cd03290	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	328	cd03250	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	384	cd03228	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	247	cd03219	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	225	cd03256	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	236	cd03217	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	198	cd03299	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	235	cd03294	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	226	cd03261	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	238	cd03260	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	208	cd03222	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	213	cd03218	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	229	COG0410	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	224	cd03251	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	243	cd03230	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	240	cd03255	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	205	cd03292	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	208	cd03246	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	220	cd03262	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	354	cd03223	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	238	COG1127	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	1463	COG1132	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	667	smart00382	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	228	COG1126	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	210	COG4161	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	267	COG1120	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	206	cd03296	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	198	COG4152	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	204	COG4133	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	230	COG1118	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	600046.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	197	cd03298	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	116	COG4778	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	145	COG1131	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	106	COG1121	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	98	cd03296	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	113	cd03219	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	120	cd03264	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	94	cd03269	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	128	cd03259	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	100	cd03268	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	128	cd03216	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	141	cd03229	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	225	cd03228	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	107	COG4161	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	151	cd03263	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	96	cd03265	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	129	cd03230	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	122	cd03255	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	112	smart00382	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	149	COG1120	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	106	pfam00005	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	138	cd03225	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	244	cd00267	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	118	cd03226	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	109	cd03235	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	167	cd03214	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	440	COG1122	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	114	cd03232	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	113	COG4107	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	144	COG4586	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	102	COG4555	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	111	cd03266	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	120	cd03233	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	600046.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	HIGH DENSITY LIPOPROTEIN DEFICIENCY	OMIM	272	cd03257	21536376,NP_005493
19	308153644	Disease	p.Asp1229Asn	600046.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	371	COG1135	21536376,NP_005493
19	308153644	Disease	p.Asp1229Asn	600046.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	545	COG3845	21536376,NP_005493
19	308153644	Disease	p.Asp1229Asn	600046.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	618	COG1123	21536376,NP_005493
19	308153644	Disease	p.Asp1229Asn	600046.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	517	COG0488	21536376,NP_005493
19	308153644	Disease	p.Asp1229Asn	600046.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	550	COG1129	21536376,NP_005493
19	308153644	Disease	p.Asp1229Asn	600046.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	633	COG3842	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	128	COG4778	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	165	COG1131	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	130	COG1121	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	114	cd03296	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	152	cd03219	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	132	cd03264	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	106	cd03269	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	142	cd03259	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	117	cd03268	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	147	cd03216	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	153	cd03229	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	234	cd03228	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	119	COG4161	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	163	cd03263	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	108	cd03265	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	141	cd03230	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	143	cd03255	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	224	smart00382	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	170	COG1120	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	195	pfam00005	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	150	cd03225	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	1246	cd00267	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	130	cd03226	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	126	cd03235	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	179	cd03214	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	454	COG1122	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	129	cd03232	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	125	COG4107	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	156	COG4586	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	114	COG4555	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	123	cd03266	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	132	cd03233	21536376,NP_005493
19	308153644	Disease	p.Arg2021Trp	600046.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	TANGIER DISEASE	OMIM	284	cd03257	21536376,NP_005493
19	308153644	Disease	p.Arg219Lys	600046.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046	CORONARY HEART DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST	OMIM	No Domain	N/A	21536376,NP_005493
5015	11119420	Disease	p.Arg89Gly	600037.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600037	MICROPHTHALMIA, SYNDROMIC 5	OMIM	96	COG5576	NULL
5015	11119420	Disease	p.Arg89Gly	600037.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600037	MICROPHTHALMIA, SYNDROMIC 5	OMIM	53	pfam00046	NULL
5015	11119420	Disease	p.Arg89Gly	600037.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600037	MICROPHTHALMIA, SYNDROMIC 5	OMIM	83	smart00389	NULL
5015	11119420	Disease	p.Arg89Gly	600037.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600037	MICROPHTHALMIA, SYNDROMIC 5	OMIM	75	cd00086	NULL
5015	417427	Disease	p.Arg89Gly	600037.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600037	MICROPHTHALMIA, SYNDROMIC 5	OMIM	104	COG5576	27436933,NP_758840
5015	417427	Disease	p.Arg89Gly	600037.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600037	MICROPHTHALMIA, SYNDROMIC 5	OMIM	61	pfam00046	27436933,NP_758840
5015	417427	Disease	p.Arg89Gly	600037.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600037	MICROPHTHALMIA, SYNDROMIC 5	OMIM	91	smart00389	27436933,NP_758840
5015	417427	Disease	p.Arg89Gly	600037.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600037	MICROPHTHALMIA, SYNDROMIC 5	OMIM	83	cd00086	27436933,NP_758840
1118	37999493	Disease	p.Glu74Lys	600031.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	61	cd02874	4502809,NP_003456
1118	37999493	Disease	p.Glu74Lys	600031.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	141	pfam00704	4502809,NP_003456
1118	37999493	Disease	p.Glu74Lys	600031.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	68	cd02871	4502809,NP_003456
1118	37999493	Disease	p.Glu74Lys	600031.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	116	COG3325	4502809,NP_003456
1118	37999493	Disease	p.Glu74Lys	600031.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	134	cd06548	4502809,NP_003456
1118	37999493	Disease	p.Glu74Lys	600031.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	107	cd00598	4502809,NP_003456
1118	37999493	Disease	p.Glu74Lys	600031.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	63	cd02872	4502809,NP_003456
1118	37999493	Disease	p.Glu74Lys	600031.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	60	cd06545	4502809,NP_003456
1118	37999493	Disease	p.Glu74Lys	600031.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	51	cd02878	4502809,NP_003456
1118	37999493	Disease	p.Glu74Lys	600031.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	295	smart00636	4502809,NP_003456
1118	37999493	Disease	p.Glu74Lys	600031.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	56	cd02873	4502809,NP_003456
1118	37999493	Disease	p.Glu74Lys	600031.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	63	cd02879	4502809,NP_003456
1118	37999493	Disease	p.Glu74Lys	600031.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	85	cd02875	4502809,NP_003456
1118	37999493	Disease	p.Gly102Ser	600031.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	98	cd02874	4502809,NP_003456
1118	37999493	Disease	p.Gly102Ser	600031.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	176	pfam00704	4502809,NP_003456
1118	37999493	Disease	p.Gly102Ser	600031.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	108	cd02871	4502809,NP_003456
1118	37999493	Disease	p.Gly102Ser	600031.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	187	COG3325	4502809,NP_003456
1118	37999493	Disease	p.Gly102Ser	600031.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	166	cd06548	4502809,NP_003456
1118	37999493	Disease	p.Gly102Ser	600031.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	139	cd00598	4502809,NP_003456
1118	37999493	Disease	p.Gly102Ser	600031.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	91	cd02872	4502809,NP_003456
1118	37999493	Disease	p.Gly102Ser	600031.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	88	cd06545	4502809,NP_003456
1118	37999493	Disease	p.Gly102Ser	600031.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	82	cd02878	4502809,NP_003456
1118	37999493	Disease	p.Gly102Ser	600031.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	354	smart00636	4502809,NP_003456
1118	37999493	Disease	p.Gly102Ser	600031.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	89	cd02873	4502809,NP_003456
1118	37999493	Disease	p.Gly102Ser	600031.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	92	cd02879	4502809,NP_003456
1118	37999493	Disease	p.Gly102Ser	600031.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600031	CHITOTRIOSIDASE DEFICIENCY	OMIM	105_G	cd02875	4502809,NP_003456
3930	20141468	Disease	p.Pro119Leu	600024.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600024	PELGER-HUET ANOMALY	OMIM	No Domain	N/A	37595752,NP_919424|37595750,NP_002287
3930	20141468	Disease	p.Pro119Leu	600024.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600024	PELGER-HUET ANOMALY	OMIM	No Domain	N/A	37595752,NP_919424|37595750,NP_002287
3930	20141468	Disease	p.Pro569Arg	600024.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600024	PELGER-HUET ANOMALY	OMIM	461	pfam01222	37595752,NP_919424|37595750,NP_002287
3930	20141468	Disease	p.Pro569Arg	600024.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600024	PELGER-HUET ANOMALY	OMIM	461	pfam01222	37595752,NP_919424|37595750,NP_002287
3930	20141468	Disease	p.Arg372Cys	600024.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600024	REYNOLDS SYNDROME	OMIM	211	pfam01222	37595752,NP_919424|37595750,NP_002287
3930	20141468	Disease	p.Arg372Cys	600024.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600024	REYNOLDS SYNDROME	OMIM	211	pfam01222	37595752,NP_919424|37595750,NP_002287
4988	223718716	Disease	p.Asn40Asp	600018.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600018	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	NULL
4988	117940054	Disease	p.Asn40Asp	600018.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600018	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	NULL
4988	117940058	Disease	p.Asn40Asp	600018.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600018	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	NULL
4988	223718055	Disease	p.Asn40Asp	600018.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600018	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	NULL
4988	223718077	Disease	p.Asn40Asp	600018.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600018	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	NULL
4988	223718712	Disease	p.Asn40Asp	600018.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600018	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	NULL
4988	223718066	Disease	p.Asn40Asp	600018.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600018	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	33	pfam00001	NULL
4988	223717969	Disease	p.Asn40Asp	600018.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600018	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	NULL
4988	223718060	Disease	p.Asn40Asp	600018.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600018	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	65	pfam00001	NULL
4988	223718719	Disease	p.Asn40Asp	600018.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600018	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	NULL
4988	223718087	Disease	p.Asn40Asp	600018.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600018	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	65	pfam00001	NULL
4988	2851402	Disease	p.Asn40Asp	600018.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600018	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	117940060,NP_000905
4988	117940055	Disease	p.Asn40Asp	600018.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600018	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	NULL
783	45359842	Disease	p.Ser481Leu	600003.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600003	BRUGADA SYNDROME 4	OMIM	No Domain	N/A	NULL
783	147904948	Disease	p.Ser481Leu	600003.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600003	BRUGADA SYNDROME 4	OMIM	No Domain	N/A	NULL
783	147901383	Disease	p.Ser481Leu	600003.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600003	BRUGADA SYNDROME 4	OMIM	No Domain	N/A	NULL
783	145559447	Disease	p.Ser481Leu	600003.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600003	BRUGADA SYNDROME 4	OMIM	No Domain	N/A	147898681,NP_963890
783	148226485	Disease	p.Ser481Leu	600003.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600003	BRUGADA SYNDROME 4	OMIM	No Domain	N/A	NULL
783	45359834	Disease	p.Ser481Leu	600003.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600003	BRUGADA SYNDROME 4	OMIM	No Domain	N/A	NULL
783	148223541	Disease	p.Ser481Leu	600003.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600003	BRUGADA SYNDROME 4	OMIM	No Domain	N/A	NULL
783	269308235	Disease	p.Ser481Leu	600003.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600003	BRUGADA SYNDROME 4	OMIM	No Domain	N/A	NULL
783	148232726	Disease	p.Ser481Leu	600003.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600003	BRUGADA SYNDROME 4	OMIM	No Domain	N/A	NULL
6775077	196123583	Disease	p.Trp55Arg	516070.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516070	CARDIOMYOPATHY, INFANTILE HYPERTROPHIC	OMIM	68	pfam00895	NULL
6775074	196123584	Disease	p.Leu156Arg	516060.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516060	LEIGH SYNDROME||NARP SYNDROME	OMIM	229	COG0356	NULL
6775074	196123584	Disease	p.Leu156Arg	516060.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516060	LEIGH SYNDROME||NARP SYNDROME	OMIM	176	pfam00119	NULL
6775074	196123584	Disease	p.Leu156Pro	516060.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516060	LEIGH SYNDROME||ATAXIA AND POLYNEUROPATHY, ADULT-ONSET	OMIM	229	COG0356	NULL
6775074	196123584	Disease	p.Leu156Pro	516060.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516060	LEIGH SYNDROME||ATAXIA AND POLYNEUROPATHY, ADULT-ONSET	OMIM	176	pfam00119	NULL
6775074	196123584	Disease	p.Ile192Thr	516060.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516060	LEBER OPTIC ATROPHY	OMIM	271	COG0356	NULL
6775074	196123584	Disease	p.Ile192Thr	516060.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516060	LEBER OPTIC ATROPHY	OMIM	219	pfam00119	NULL
79742	193804856	Disease	p.Ile192Thr	516060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516060	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Ile192Thr	516060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516060	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
6775074	196123584	Disease	p.Leu220Pro	516060.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516060	LEIGH SYNDROME	OMIM	301	COG0356	NULL
6775074	196123584	Disease	p.Leu220Pro	516060.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516060	LEIGH SYNDROME	OMIM	256	pfam00119	NULL
6775074	196123584	Disease	p.Met1Thr	516060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516060	CARDIOMYOPATHY, INFANTILE HYPERTROPHIC	OMIM	No Domain	N/A	NULL
6775074	196123584	Disease	p.Leu217Arg	516060.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516060	LEIGH SYNDROME	OMIM	298	COG0356	NULL
6775074	196123584	Disease	p.Leu217Arg	516060.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516060	LEIGH SYNDROME	OMIM	253	pfam00119	NULL
6775083	196123581	Disease	p.Leu196Ile	516030.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516030	CYTOCHROME c OXIDASE I DEFICIENCY	OMIM	201	cd01662	NULL
6775083	196123581	Disease	p.Leu196Ile	516030.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516030	CYTOCHROME c OXIDASE I DEFICIENCY	OMIM	236	COG0843	NULL
6775083	196123581	Disease	p.Leu196Ile	516030.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516030	CYTOCHROME c OXIDASE I DEFICIENCY	OMIM	199	cd01660	NULL
6775083	196123581	Disease	p.Leu196Ile	516030.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516030	CYTOCHROME c OXIDASE I DEFICIENCY	OMIM	221	cd01663	NULL
6775083	196123581	Disease	p.Leu196Ile	516030.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516030	CYTOCHROME c OXIDASE I DEFICIENCY	OMIM	355	cd00919	NULL
6775083	196123581	Disease	p.Leu196Ile	516030.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516030	CYTOCHROME c OXIDASE I DEFICIENCY	OMIM	245	pfam00115	NULL
6775083	196123581	Disease	p.Ser142Phe	516030.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516030	CYTOCHROME c OXIDASE I DEFICIENCY	OMIM	147	cd01662	NULL
6775083	196123581	Disease	p.Ser142Phe	516030.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516030	CYTOCHROME c OXIDASE I DEFICIENCY	OMIM	181	COG0843	NULL
6775083	196123581	Disease	p.Ser142Phe	516030.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516030	CYTOCHROME c OXIDASE I DEFICIENCY	OMIM	149	cd01660	NULL
6775083	196123581	Disease	p.Ser142Phe	516030.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516030	CYTOCHROME c OXIDASE I DEFICIENCY	OMIM	166	cd01663	NULL
6775083	196123581	Disease	p.Ser142Phe	516030.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516030	CYTOCHROME c OXIDASE I DEFICIENCY	OMIM	287	cd00919	NULL
6775083	196123581	Disease	p.Ser142Phe	516030.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516030	CYTOCHROME c OXIDASE I DEFICIENCY	OMIM	187	pfam00115	NULL
6775065	196123591	Disease	p.Gly290Asp	516020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516020	EXERCISE INTOLERANCE	OMIM	465	COG1290	NULL
6775065	196123591	Disease	p.Gly290Asp	516020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516020	EXERCISE INTOLERANCE	OMIM	84	cd00290	NULL
6775065	196123591	Disease	p.Gly290Asp	516020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516020	EXERCISE INTOLERANCE	OMIM	56	pfam00032	NULL
6775065	196123591	Disease	p.Gly34Ser	516020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516020	EXERCISE INTOLERANCE	OMIM	64	COG1290	NULL
6775065	196123591	Disease	p.Gly34Ser	516020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516020	EXERCISE INTOLERANCE	OMIM	29	pfam00033	NULL
6775065	196123591	Disease	p.Gly34Ser	516020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516020	EXERCISE INTOLERANCE	OMIM	26	cd00284	NULL
6775065	196123591	Disease	p.Ser151Pro	516020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516020	EXERCISE INTOLERANCE	OMIM	216	COG1290	NULL
6775065	196123591	Disease	p.Ser151Pro	516020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516020	EXERCISE INTOLERANCE	OMIM	379	pfam00033	NULL
6775065	196123591	Disease	p.Ser151Pro	516020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516020	EXERCISE INTOLERANCE	OMIM	145	cd00284	NULL
6775065	196123591	Disease	p.Tyr278Cys	516020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516020	MULTISYSTEM DISORDER	OMIM	407	COG1290	NULL
6775065	196123591	Disease	p.Tyr278Cys	516020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516020	MULTISYSTEM DISORDER	OMIM	72	cd00290	NULL
6775065	196123591	Disease	p.Tyr278Cys	516020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516020	MULTISYSTEM DISORDER	OMIM	21	pfam00032	NULL
6775065	196123591	Disease	p.Gly251Asp	516020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516020	CARDIOMYOPATHY, INFANTILE HISTIOCYTOID	OMIM	364	COG1290	NULL
6775065	196123591	Disease	p.Gly251Asp	516020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516020	CARDIOMYOPATHY, INFANTILE HISTIOCYTOID	OMIM	45	cd00290	NULL
6775065	196123591	Disease	p.Ser35Pro	516020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516020	EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA	OMIM	65	COG1290	NULL
6775065	196123591	Disease	p.Ser35Pro	516020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516020	EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA	OMIM	30	pfam00033	NULL
6775065	196123591	Disease	p.Ser35Pro	516020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516020	EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA	OMIM	27	cd00284	NULL
6775065	196123591	Disease	p.Gly251Ser	516020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516020	OBESITY, SUSCEPTIBILITY TO	OMIM	364	COG1290	NULL
6775065	196123591	Disease	p.Gly251Ser	516020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516020	OBESITY, SUSCEPTIBILITY TO	OMIM	45	cd00290	NULL
6775066	196123589	Disease	p.Phe124Leu	516005.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	168	COG1008	NULL
6775066	196123589	Disease	p.Phe124Leu	516005.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	140	COG1009	NULL
6775066	196123589	Disease	p.Phe124Leu	516005.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	149	COG0651	NULL
6775066	196123589	Disease	p.Phe124Leu	516005.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	129	COG1007	NULL
6775066	196123589	Disease	p.Glu145Gly	516005.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	MELAS SYNDROME	OMIM	190	COG1008	NULL
6775066	196123589	Disease	p.Glu145Gly	516005.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	MELAS SYNDROME	OMIM	12	pfam00361	NULL
6775066	196123589	Disease	p.Glu145Gly	516005.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	MELAS SYNDROME	OMIM	161	COG1009	NULL
6775066	196123589	Disease	p.Glu145Gly	516005.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	MELAS SYNDROME	OMIM	170	COG0651	NULL
6775066	196123589	Disease	p.Glu145Gly	516005.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	MELAS SYNDROME	OMIM	150	COG1007	NULL
6775066	196123589	Disease	p.Met237Leu	516005.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	MELAS SYNDROME||LEBER OPTIC ATROPHY||LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	309	COG1008	NULL
6775066	196123589	Disease	p.Met237Leu	516005.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	MELAS SYNDROME||LEBER OPTIC ATROPHY||LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	134	pfam00361	NULL
6775066	196123589	Disease	p.Met237Leu	516005.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	MELAS SYNDROME||LEBER OPTIC ATROPHY||LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	308	COG1009	NULL
6775066	196123589	Disease	p.Met237Leu	516005.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	MELAS SYNDROME||LEBER OPTIC ATROPHY||LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	291	COG0651	NULL
6775066	196123589	Disease	p.Met237Leu	516005.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	MELAS SYNDROME||LEBER OPTIC ATROPHY||LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	252	COG1007	NULL
6775066	196123589	Disease	p.Ser250Cys	516005.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY||MELAS SYNDROME	OMIM	316_G	COG1008	NULL
6775066	196123589	Disease	p.Ser250Cys	516005.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY||MELAS SYNDROME	OMIM	147	pfam00361	NULL
6775066	196123589	Disease	p.Ser250Cys	516005.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY||MELAS SYNDROME	OMIM	321	COG1009	NULL
6775066	196123589	Disease	p.Ser250Cys	516005.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY||MELAS SYNDROME	OMIM	305	COG0651	NULL
6775066	196123589	Disease	p.Ser250Cys	516005.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY||MELAS SYNDROME	OMIM	264	COG1007	NULL
6775066	196123589	Disease	p.Asp393Asn	516005.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	MELAS SYNDROME||LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	485	COG1008	NULL
6775066	196123589	Disease	p.Asp393Asn	516005.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	MELAS SYNDROME||LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	315	pfam00361	NULL
6775066	196123589	Disease	p.Asp393Asn	516005.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	MELAS SYNDROME||LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	517	COG1009	NULL
6775066	196123589	Disease	p.Asp393Asn	516005.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	MELAS SYNDROME||LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	492	COG0651	NULL
6775066	196123589	Disease	p.Asp393Asn	516005.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	MELAS SYNDROME||LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	437	COG1007	NULL
6775066	196123589	Disease	p.Ala236Thr	516005.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	MELAS SYNDROME||MERRF SYNDROME||LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	307	COG1008	NULL
6775066	196123589	Disease	p.Ala236Thr	516005.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	MELAS SYNDROME||MERRF SYNDROME||LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	133	pfam00361	NULL
6775066	196123589	Disease	p.Ala236Thr	516005.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	MELAS SYNDROME||MERRF SYNDROME||LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	307	COG1009	NULL
6775066	196123589	Disease	p.Ala236Thr	516005.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	MELAS SYNDROME||MERRF SYNDROME||LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	290	COG0651	NULL
6775066	196123589	Disease	p.Ala236Thr	516005.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	MELAS SYNDROME||MERRF SYNDROME||LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	251	COG1007	NULL
6775066	196123589	Disease	p.Ala171Val	516005.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	LEBER OPTIC ATROPHY	OMIM	221	COG1008	NULL
6775066	196123589	Disease	p.Ala171Val	516005.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	LEBER OPTIC ATROPHY	OMIM	41	pfam00361	NULL
6775066	196123589	Disease	p.Ala171Val	516005.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	LEBER OPTIC ATROPHY	OMIM	207	COG1009	NULL
6775066	196123589	Disease	p.Ala171Val	516005.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	LEBER OPTIC ATROPHY	OMIM	201	COG0651	NULL
6775066	196123589	Disease	p.Ala171Val	516005.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516005	LEBER OPTIC ATROPHY	OMIM	174	COG1007	NULL
6775072	196123588	Disease	p.Val312Ile	516003.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516003	LEBER OPTIC ATROPHY AND DYSTONIA	OMIM	230	pfam00361	NULL
6775072	196123588	Disease	p.Val312Ile	516003.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516003	LEBER OPTIC ATROPHY AND DYSTONIA	OMIM	361	COG1007	NULL
6775072	196123588	Disease	p.Val312Ile	516003.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516003	LEBER OPTIC ATROPHY AND DYSTONIA	OMIM	406	COG0651	NULL
6775072	196123588	Disease	p.Val312Ile	516003.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516003	LEBER OPTIC ATROPHY AND DYSTONIA	OMIM	415	COG1008	NULL
6775076	196123586	Disease	p.Ser45Pro	516002.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516002	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	78	COG0838	NULL
6775076	196123586	Disease	p.Ser45Pro	516002.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516002	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	66	pfam00507	NULL
6775076	196123586	Disease	p.Ala47Thr	516002.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516002	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY||LEBER OPTIC ATROPHY AND DYSTONIA	OMIM	80	COG0838	NULL
6775076	196123586	Disease	p.Ala47Thr	516002.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516002	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY||LEBER OPTIC ATROPHY AND DYSTONIA	OMIM	68	pfam00507	NULL
6775094	196123580	Disease	p.Leu71Pro	516001.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516001	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	53	pfam00361	NULL
6775094	196123580	Disease	p.Leu71Pro	516001.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=516001	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	189	COG1007	NULL
6736	548983	Disease	p.Phe109Ser	480000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	71	smart00398	4507225,NP_003131
6736	548983	Disease	p.Phe109Ser	480000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	53	cd01388	4507225,NP_003131
6736	548983	Disease	p.Phe109Ser	480000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	61	cd01389	4507225,NP_003131
6736	548983	Disease	p.Phe109Ser	480000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	52	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Phe109Ser	480000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	61	cd01390	4507225,NP_003131
6736	548983	Disease	p.Phe109Ser	480000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	68	cd00084	4507225,NP_003131
6736	548983	Disease	p.Val60Leu	480000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	2	smart00398	4507225,NP_003131
6736	548983	Disease	p.Val60Leu	480000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	2	cd01388	4507225,NP_003131
6736	548983	Disease	p.Val60Leu	480000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	2	cd01389	4507225,NP_003131
6736	548983	Disease	p.Ile90Met	480000.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED||46,XY TRUE HERMAPHRODITISM	OMIM	51	smart00398	4507225,NP_003131
6736	548983	Disease	p.Ile90Met	480000.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED||46,XY TRUE HERMAPHRODITISM	OMIM	34	cd01388	4507225,NP_003131
6736	548983	Disease	p.Ile90Met	480000.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED||46,XY TRUE HERMAPHRODITISM	OMIM	41	cd01389	4507225,NP_003131
6736	548983	Disease	p.Ile90Met	480000.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED||46,XY TRUE HERMAPHRODITISM	OMIM	33	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Ile90Met	480000.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED||46,XY TRUE HERMAPHRODITISM	OMIM	42	cd01390	4507225,NP_003131
6736	548983	Disease	p.Ile90Met	480000.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED||46,XY TRUE HERMAPHRODITISM	OMIM	45	cd00084	4507225,NP_003131
6736	548983	Disease	p.Lys106Ile	480000.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	68	smart00398	4507225,NP_003131
6736	548983	Disease	p.Lys106Ile	480000.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	50	cd01388	4507225,NP_003131
6736	548983	Disease	p.Lys106Ile	480000.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	58	cd01389	4507225,NP_003131
6736	548983	Disease	p.Lys106Ile	480000.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	49	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Lys106Ile	480000.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	58	cd01390	4507225,NP_003131
6736	548983	Disease	p.Lys106Ile	480000.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	65	cd00084	4507225,NP_003131
6736	548983	Disease	p.Ala113Thr	480000.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	75	smart00398	4507225,NP_003131
6736	548983	Disease	p.Ala113Thr	480000.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	57	cd01388	4507225,NP_003131
6736	548983	Disease	p.Ala113Thr	480000.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	65	cd01389	4507225,NP_003131
6736	548983	Disease	p.Ala113Thr	480000.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	56	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Ala113Thr	480000.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	65	cd01390	4507225,NP_003131
6736	548983	Disease	p.Ala113Thr	480000.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	72	cd00084	4507225,NP_003131
6736	548983	Disease	p.Ile68Thr	480000.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	10	smart00398	4507225,NP_003131
6736	548983	Disease	p.Ile68Thr	480000.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	10	cd01388	4507225,NP_003131
6736	548983	Disease	p.Ile68Thr	480000.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	10	cd01389	4507225,NP_003131
6736	548983	Disease	p.Ile68Thr	480000.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	9	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Ile68Thr	480000.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	9	cd01390	4507225,NP_003131
6736	548983	Disease	p.Ile68Thr	480000.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	9	cd00084	4507225,NP_003131
6736	548983	Disease	p.Met64Ile	480000.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	6	smart00398	4507225,NP_003131
6736	548983	Disease	p.Met64Ile	480000.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	6	cd01388	4507225,NP_003131
6736	548983	Disease	p.Met64Ile	480000.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	6	cd01389	4507225,NP_003131
6736	548983	Disease	p.Met64Ile	480000.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	5	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Met64Ile	480000.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	5	cd01390	4507225,NP_003131
6736	548983	Disease	p.Met64Ile	480000.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	5	cd00084	4507225,NP_003131
6736	548983	Disease	p.Gly95Arg	480000.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	56	smart00398	4507225,NP_003131
6736	548983	Disease	p.Gly95Arg	480000.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	39	cd01388	4507225,NP_003131
6736	548983	Disease	p.Gly95Arg	480000.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	46	cd01389	4507225,NP_003131
6736	548983	Disease	p.Gly95Arg	480000.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	38	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Gly95Arg	480000.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	47	cd01390	4507225,NP_003131
6736	548983	Disease	p.Gly95Arg	480000.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	50	cd00084	4507225,NP_003131
79742	193804856	Disease	p.Gly95Arg	480000.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	MOVED TO 480000.0007	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Gly95Arg	480000.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	MOVED TO 480000.0007	OMIM	No Domain	N/A	193804854,NP_789789
6736	548983	Disease	p.Arg133Trp	480000.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	85	cd01389	4507225,NP_003131
6736	548983	Disease	p.Ser18Asn	480000.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	GONADAL DYSGENESIS, PARTIAL	OMIM	No Domain	N/A	4507225,NP_003131
6736	548983	Disease	p.Gly95Glu	480000.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	56	smart00398	4507225,NP_003131
6736	548983	Disease	p.Gly95Glu	480000.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	39	cd01388	4507225,NP_003131
6736	548983	Disease	p.Gly95Glu	480000.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	46	cd01389	4507225,NP_003131
6736	548983	Disease	p.Gly95Glu	480000.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	38	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Gly95Glu	480000.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	47	cd01390	4507225,NP_003131
6736	548983	Disease	p.Gly95Glu	480000.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	50	cd00084	4507225,NP_003131
6736	548983	Disease	p.Tyr127Phe	480000.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	94	smart00398	4507225,NP_003131
6736	548983	Disease	p.Tyr127Phe	480000.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	71	cd01388	4507225,NP_003131
6736	548983	Disease	p.Tyr127Phe	480000.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	79	cd01389	4507225,NP_003131
6736	548983	Disease	p.Tyr127Phe	480000.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000	46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED	OMIM	70	pfam00505	4507225,NP_003131
347344	55977803	Disease	p.Ser179Asn	314998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314998	MENTAL RETARDATION, X-LINKED 45	OMIM	7	COG5048	148727251,NP_009068
7592	23510457	Disease	p.Pro111Leu	314995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314995	MENTAL RETARDATION, X-LINKED 89	OMIM	No Domain	N/A	NULL
7592	23510455	Disease	p.Pro111Leu	314995.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314995	MENTAL RETARDATION, X-LINKED 89	OMIM	No Domain	N/A	NULL
7504	85700269	Disease	p.Cys294Arg	314850.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314850	MCLEOD SYNDROME	OMIM	448	pfam09815	10835267,NP_066569
8242	226442963	Disease	p.Leu731Phe	314690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314690	MENTAL RETARDATION, X-LINKED, JARID1C-RELATED	OMIM	34	pfam08429	NULL
8242	117949812	Disease	p.Leu731Phe	314690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314690	MENTAL RETARDATION, X-LINKED, JARID1C-RELATED	OMIM	27	pfam02928	109255243,NP_004178
8242	226442963	Disease	p.Ala388Pro	314690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314690	MENTAL RETARDATION, X-LINKED, JARID1C-RELATED	OMIM	No Domain	N/A	NULL
8242	117949812	Disease	p.Ala388Pro	314690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314690	MENTAL RETARDATION, X-LINKED, JARID1C-RELATED	OMIM	No Domain	N/A	109255243,NP_004178
8242	226442963	Disease	p.Ser451Arg	314690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314690	MENTAL RETARDATION, X-LINKED, JARID1C-RELATED	OMIM	18	pfam02373	NULL
8242	226442963	Disease	p.Ser451Arg	314690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314690	MENTAL RETARDATION, X-LINKED, JARID1C-RELATED	OMIM	95	smart00558	NULL
8242	117949812	Disease	p.Ser451Arg	314690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314690	MENTAL RETARDATION, X-LINKED, JARID1C-RELATED	OMIM	No Domain	N/A	109255243,NP_004178
8242	226442963	Disease	p.Arg766Trp	314690.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314690	MENTAL RETARDATION, X-LINKED, JARID1C-RELATED	OMIM	88	pfam08429	NULL
8242	117949812	Disease	p.Arg766Trp	314690.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314690	MENTAL RETARDATION, X-LINKED, JARID1C-RELATED	OMIM	No Domain	N/A	109255243,NP_004178
8242	226442963	Disease	p.Ala77Thr	314690.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314690	MENTAL RETARDATION, X-LINKED, JARID1C-RELATED	OMIM	73	smart00501	NULL
8242	226442963	Disease	p.Ala77Thr	314690.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314690	MENTAL RETARDATION, X-LINKED, JARID1C-RELATED	OMIM	116	pfam01388	NULL
8242	117949812	Disease	p.Ala77Thr	314690.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314690	MENTAL RETARDATION, X-LINKED, JARID1C-RELATED	OMIM	2	pfam01388	109255243,NP_004178
7317	24418865	Disease	p.Met539Ile	314370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	80	pfam00899	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	314370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	66	cd01488	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	314370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	70	cd01484	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	314370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	92	cd01483	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	314370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	65	cd01489	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	314370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	88	cd01490	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	314370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	156	COG0476	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	314370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	92	cd00757	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	314370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	80	pfam00899	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	314370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	66	cd01488	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	314370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	70	cd01484	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	314370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	92	cd01483	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	314370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	65	cd01489	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	314370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	88	cd01490	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	314370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	156	COG0476	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	314370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	92	cd00757	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	314370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	91	pfam00899	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	314370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	81	cd01488	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	314370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	80	cd01484	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	314370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	102	cd01483	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	314370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	74	cd01489	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	314370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	98	cd01490	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	314370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	164	COG0476	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	314370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	100	cd00757	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	314370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	91	pfam00899	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	314370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	81	cd01488	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	314370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	80	cd01484	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	314370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	102	cd01483	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	314370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	74	cd01489	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	314370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	98	cd01490	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	314370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	164	COG0476	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	314370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	100	cd00757	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Asn577Asn	314370.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	160	pfam00899	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Asn577Asn	314370.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	106	cd01488	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Asn577Asn	314370.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	110	cd01484	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Asn577Asn	314370.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	146	cd01483	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Asn577Asn	314370.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	102	cd01489	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Asn577Asn	314370.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	128	cd01490	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Asn577Asn	314370.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	195	COG0476	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Asn577Asn	314370.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	142	cd00757	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Asn577Asn	314370.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	160	pfam00899	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Asn577Asn	314370.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	106	cd01488	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Asn577Asn	314370.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	110	cd01484	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Asn577Asn	314370.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	146	cd01483	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Asn577Asn	314370.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	102	cd01489	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Asn577Asn	314370.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	128	cd01490	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Asn577Asn	314370.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	195	COG0476	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Asn577Asn	314370.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314370	SPINAL MUSCULAR ATROPHY, X-LINKED 2	OMIM	142	cd00757	23510338,NP_003325|23510340,NP_695012
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	197	cd02052	205277441,NP_000345
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	186	cd02046	205277441,NP_000345
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	236	cd02051	205277441,NP_000345
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	327	smart00093	205277441,NP_000345
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	176	cd02053	205277441,NP_000345
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	185	cd02055	205277441,NP_000345
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	175	cd02050	205277441,NP_000345
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	184	cd02048	205277441,NP_000345
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	195	cd02045	205277441,NP_000345
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	226	cd02059	205277441,NP_000345
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	221	cd02058	205277441,NP_000345
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	184	cd02057	205277441,NP_000345
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	198	cd02044	205277441,NP_000345
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	194	cd02049	205277441,NP_000345
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	238	COG4826	205277441,NP_000345
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	202	cd02054	205277441,NP_000345
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	186	cd02056	205277441,NP_000345
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	270	cd00172	205277441,NP_000345
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	349	pfam00079	205277441,NP_000345
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	200	cd02043	205277441,NP_000345
6906	1351236	Disease	p.Leu227Pro	314200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE||COMPLETE DEFICIENCY 5	OMIM	265	cd02047	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	161	cd02052	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	151	cd02046	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	198	cd02051	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	282	smart00093	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	141	cd02053	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	150	cd02055	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	141	cd02050	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	149	cd02048	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	160	cd02045	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	183	cd02059	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	180	cd02058	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	147	cd02057	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	161	cd02044	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	158	cd02049	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	200	COG4826	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	167	cd02054	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	150	cd02056	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	228	cd00172	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	301	pfam00079	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	156	cd02043	205277441,NP_000345
6906	1351236	Disease	p.Ala191Thr	314200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT A||TBG-A, TBG-ABORIGINE	OMIM	230	cd02047	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	256	cd02052	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	245	cd02046	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	298	cd02051	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	418	smart00093	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	235	cd02053	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	242	cd02055	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	236	cd02050	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	250	cd02048	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	253	cd02045	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	289	cd02059	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	283	cd02058	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	246	cd02057	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	261	cd02044	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	248	cd02049	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	297	COG4826	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	259	cd02054	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	247	cd02056	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	385	cd00172	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	518	pfam00079	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	274	cd02043	205277441,NP_000345
6906	1351236	Disease	p.Leu283Phe	314200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, VARIANT P||TBG-P	OMIM	322	cd02047	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	141	cd02052	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	131	cd02046	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	178	cd02051	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	258	smart00093	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	121	cd02053	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	130	cd02055	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	121	cd02050	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	127	cd02048	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	138	cd02045	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	163	cd02059	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	164	cd02058	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	127	cd02057	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	141	cd02044	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	138	cd02049	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	180	COG4826	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	147	cd02054	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	130	cd02056	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	207	cd00172	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	266	pfam00079	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	140	cd02043	205277441,NP_000345
6906	1351236	Disease	p.Asp171Asn	314200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, SLOW||TBG-S	OMIM	210	cd02047	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	304	cd02052	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	293	cd02046	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	346	cd02051	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	501	smart00093	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	280_G	cd02053	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	290	cd02055	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	287	cd02050	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	298	cd02048	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	302	cd02045	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	339	cd02059	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	333	cd02058	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	296	cd02057	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	311	cd02044	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	303	cd02049	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	347	COG4826	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	310	cd02054	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	299	cd02056	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	479	cd00172	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	611	pfam00079	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	326	cd02043	205277441,NP_000345
6906	1351236	Disease	p.His331Tyr	314200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, QUEBEC TYPE||THYROXINE-BINDING GLOBULIN, QUEBEC, TBG-QUEBEC	OMIM	370	cd02047	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	84	cd02052	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	72	cd02046	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	120	cd02051	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	184	smart00093	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	64	cd02053	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	73	cd02055	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	60	cd02050	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	69	cd02048	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	78	cd02045	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	104	cd02059	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	105	cd02058	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	68	cd02057	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	82	cd02044	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	81	cd02049	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	121	COG4826	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	80	cd02054	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	72	cd02056	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	110	cd00172	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	133	pfam00079	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	72	cd02043	205277441,NP_000345
6906	1351236	Disease	p.Ala113Pro	314200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, MONTREAL TYPE||THYROXINE-BINDING GLOBULIN, MONTREAL, TBG-MONTREAL	OMIM	153	cd02047	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	69	cd02052	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	57	cd02046	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	61	cd02051	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	57	smart00093	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	55	cd02053	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	55	cd02055	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	53	cd02050	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	54	cd02048	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	60	cd02045	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	55	cd02059	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	55	cd02058	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	55	cd02057	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	55	cd02044	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	66	cd02049	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	106	COG4826	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	58	cd02054	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	55	cd02056	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	67	cd00172	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	76	pfam00079	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	59	cd02043	205277441,NP_000345
6906	1351236	Disease	p.Ile96Asn	314200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE||THYROXINE-BINDING GLOBULIN, GARY, TBG-GARY	OMIM	131	cd02047	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	282	cd02052	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	271	cd02046	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	324	cd02051	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	461	smart00093	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	259	cd02053	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	268	cd02055	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	266	cd02050	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	276	cd02048	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	279	cd02045	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	317	cd02059	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	311	cd02058	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	274	cd02057	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	289	cd02044	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	280	cd02049	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	324	COG4826	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	285	cd02054	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	277	cd02056	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	434	cd00172	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	571	pfam00079	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	303	cd02043	205277441,NP_000345
6906	1351236	Disease	p.Tyr309Phe	314200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN, CHICAGO||TBG-CHICAGO	OMIM	348	cd02047	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	334	cd02052	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	323	cd02046	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	379	cd02051	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	543	smart00093	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	311	cd02053	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	323	cd02055	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	319	cd02050	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	330	cd02048	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	337	cd02045	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	372	cd02059	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	366	cd02058	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	329	cd02057	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	344	cd02044	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	340	cd02049	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	379	COG4826	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	342	cd02054	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	331	cd02056	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	675	cd00172	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	776	pfam00079	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	363	cd02043	205277441,NP_000345
6906	1351236	Disease	p.Pro363Leu	314200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314200	THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE||TBG-PDJ	OMIM	401	cd02047	205277441,NP_000345
374	113754	Disease	p.Arg773Cys	313700.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, COMPLETE	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Val866Met	313700.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, COMPLETE	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Tyr761Cys	313700.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, PARTIAL	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Arg772Cys	313700.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, COMPLETE	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Ala771Thr	313700.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, PARTIAL	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Met786Val	313700.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, COMPLETE	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Arg773His	313700.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, COMPLETE	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Val865Met	313700.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, COMPLETE	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Val865Leu	313700.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, PARTIAL	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Arg855His	313700.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, PARTIAL	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Ile869Met	313700.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	HYPOSPADIAS 1, X-LINKED	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Arg839His	313700.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, PARTIAL	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Arg839Cys	313700.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, PARTIAL	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Leu676Pro	313700.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, COMPLETE	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Leu707Arg	313700.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, COMPLETE	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Cys579Phe	313700.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, COMPLETE	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Phe582Tyr	313700.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, COMPLETE	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Pro546Ser	313700.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	HYPOSPADIAS 1, X-LINKED	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Glu2Lys	313700.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, PARTIAL	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Met780Ile	313700.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, COMPLETE	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Arg846His	313700.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, PARTIAL	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Gln798Glu	313700.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, PARTIAL	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Ser888Ser	313700.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY SYNDROME	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Leu712Phe	313700.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY SYNDROME	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Gly577Arg	313700.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY SYNDROME	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Ser865Pro	313700.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY SYNDROME	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Phe856Leu	313700.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY SYNDROME	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Arg840Cys	313700.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY SYNDROME	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.His689Pro	313700.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, COMPLETE	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Gly743Val	313700.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, PARTIAL||ANDROGEN INSENSITIVITY, COMPLETE	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Gly743Glu	313700.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, COMPLETE	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
374	113754	Disease	p.Ser740Cys	313700.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700	ANDROGEN INSENSITIVITY, PARTIAL	OMIM	No Domain	N/A	113415639,XP_001125684|4502199,NP_001648
6855	27764867	Disease	p.Gly217Arg	313475.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313475	MENTAL RETARDATION, X-LINKED, SYP-RELATED	OMIM	243	pfam01284	NULL
6473	6031203	Disease	p.Leu132Val	312865.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	66	COG5576	NULL
6473	6031203	Disease	p.Leu132Val	312865.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	20	smart00389	NULL
6473	6031203	Disease	p.Leu132Val	312865.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	15	pfam00046	NULL
6473	6031203	Disease	p.Leu132Val	312865.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	15	cd00086	NULL
6473	6831676	Disease	p.Leu132Val	312865.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	66	COG5576	4506943,NP_000442
6473	6831676	Disease	p.Leu132Val	312865.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	20	smart00389	4506943,NP_000442
6473	6831676	Disease	p.Leu132Val	312865.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	15	pfam00046	4506943,NP_000442
6473	6831676	Disease	p.Leu132Val	312865.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	15	cd00086	4506943,NP_000442
6473	6031203	Disease	p.Arg153Leu	312865.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	87	COG5576	NULL
6473	6031203	Disease	p.Arg153Leu	312865.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	55	smart00389	NULL
6473	6031203	Disease	p.Arg153Leu	312865.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	41	pfam00046	NULL
6473	6031203	Disease	p.Arg153Leu	312865.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	47	cd00086	NULL
6473	6831676	Disease	p.Arg153Leu	312865.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	87	COG5576	4506943,NP_000442
6473	6831676	Disease	p.Arg153Leu	312865.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	55	smart00389	4506943,NP_000442
6473	6831676	Disease	p.Arg153Leu	312865.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	41	pfam00046	4506943,NP_000442
6473	6831676	Disease	p.Arg153Leu	312865.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	47	cd00086	4506943,NP_000442
6473	6031203	Disease	p.Arg173Cys	312865.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	109	COG5576	NULL
6473	6031203	Disease	p.Arg173Cys	312865.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	66	pfam00046	NULL
6473	6031203	Disease	p.Arg173Cys	312865.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	88	cd00086	NULL
6473	6831676	Disease	p.Arg173Cys	312865.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	109	COG5576	4506943,NP_000442
6473	6831676	Disease	p.Arg173Cys	312865.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	66	pfam00046	4506943,NP_000442
6473	6831676	Disease	p.Arg173Cys	312865.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LERI-WEILL DYSCHONDROSTEOSIS	OMIM	88	cd00086	4506943,NP_000442
6473	6031203	Disease	p.Arg168Trp	312865.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LANGER MESOMELIC DYSPLASIA||LERI-WEILL DYSCHONDROSTEOSIS	OMIM	104	COG5576	NULL
6473	6031203	Disease	p.Arg168Trp	312865.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LANGER MESOMELIC DYSPLASIA||LERI-WEILL DYSCHONDROSTEOSIS	OMIM	91	smart00389	NULL
6473	6031203	Disease	p.Arg168Trp	312865.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LANGER MESOMELIC DYSPLASIA||LERI-WEILL DYSCHONDROSTEOSIS	OMIM	61	pfam00046	NULL
6473	6031203	Disease	p.Arg168Trp	312865.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LANGER MESOMELIC DYSPLASIA||LERI-WEILL DYSCHONDROSTEOSIS	OMIM	83	cd00086	NULL
6473	6831676	Disease	p.Arg168Trp	312865.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LANGER MESOMELIC DYSPLASIA||LERI-WEILL DYSCHONDROSTEOSIS	OMIM	104	COG5576	4506943,NP_000442
6473	6831676	Disease	p.Arg168Trp	312865.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LANGER MESOMELIC DYSPLASIA||LERI-WEILL DYSCHONDROSTEOSIS	OMIM	91	smart00389	4506943,NP_000442
6473	6831676	Disease	p.Arg168Trp	312865.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LANGER MESOMELIC DYSPLASIA||LERI-WEILL DYSCHONDROSTEOSIS	OMIM	61	pfam00046	4506943,NP_000442
6473	6831676	Disease	p.Arg168Trp	312865.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312865	LANGER MESOMELIC DYSPLASIA||LERI-WEILL DYSCHONDROSTEOSIS	OMIM	83	cd00086	4506943,NP_000442
3358	112816	Disease	p.Cys23Ser	312861.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312861	SEROTONIN 5-HT-2C RECEPTOR POLYMORPHISM	OMIM	No Domain	N/A	4504541,NP_000859
6248	74751656	Disease	p.Trp96Arg	312700.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312700	RETINOSCHISIS 1, X-LINKED, JUVENILE	OMIM	No Domain	N/A	5730021,NP_006502
6248	74751656	Disease	p.Arg102Trp	312700.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312700	RETINOSCHISIS 1, X-LINKED, JUVENILE	OMIM	No Domain	N/A	5730021,NP_006502
6248	74751656	Disease	p.Glu72Lys	312700.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312700	RETINOSCHISIS 1, X-LINKED, JUVENILE	OMIM	No Domain	N/A	5730021,NP_006502
6248	74751656	Disease	p.Glu72Asp	312700.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312700	RETINOSCHISIS 1, X-LINKED, JUVENILE	OMIM	No Domain	N/A	5730021,NP_006502
6248	74751656	Disease	p.Gly74Val	312700.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312700	RETINOSCHISIS 1, X-LINKED, JUVENILE	OMIM	No Domain	N/A	5730021,NP_006502
6248	74751656	Disease	p.Gly109Arg	312700.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312700	RETINOSCHISIS 1, X-LINKED, JUVENILE	OMIM	No Domain	N/A	5730021,NP_006502
6248	74751656	Disease	p.Leu13Pro	312700.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312700	RETINOSCHISIS 1, X-LINKED, JUVENILE	OMIM	No Domain	N/A	5730021,NP_006502
6248	74751656	Disease	p.Cys223Arg	312700.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312700	RETINOSCHISIS 1, X-LINKED, JUVENILE	OMIM	No Domain	N/A	5730021,NP_006502
6248	74751656	Disease	p.Pro203Leu	312700.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312700	RETINOSCHISIS 1, X-LINKED, JUVENILE	OMIM	No Domain	N/A	5730021,NP_006502
6248	74751656	Disease	p.Arg102Gln	312700.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312700	RETINOSCHISIS 1, X-LINKED, JUVENILE	OMIM	No Domain	N/A	5730021,NP_006502
6103	4506581	Disease	p.Phe130Cys	312610.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA 3	OMIM	233	COG5184	NULL
6103	4506581	Disease	p.Phe130Cys	312610.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA 3	OMIM	47	pfam00415	NULL
6103	78190492	Disease	p.Phe130Cys	312610.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA 3	OMIM	233	COG5184	NULL
6103	78190492	Disease	p.Phe130Cys	312610.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA 3	OMIM	47	pfam00415	NULL
6103	4506581	Disease	p.Pro235Ser	312610.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA 3	OMIM	369	COG5184	NULL
6103	4506581	Disease	p.Pro235Ser	312610.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA 3	OMIM	47	pfam00415	NULL
6103	78190492	Disease	p.Pro235Ser	312610.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA 3	OMIM	369	COG5184	NULL
6103	78190492	Disease	p.Pro235Ser	312610.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA 3	OMIM	47	pfam00415	NULL
6103	4506581	Disease	p.Gly275Ser	312610.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA 3	OMIM	436	COG5184	NULL
6103	4506581	Disease	p.Gly275Ser	312610.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA 3	OMIM	18	pfam00415	NULL
6103	78190492	Disease	p.Gly275Ser	312610.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA 3	OMIM	436	COG5184	NULL
6103	78190492	Disease	p.Gly275Ser	312610.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA 3	OMIM	18	pfam00415	NULL
6103	4506581	Disease	p.Gly60Val	312610.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA 3	OMIM	91	COG5184	NULL
6103	4506581	Disease	p.Gly60Val	312610.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA 3	OMIM	8	pfam00415	NULL
6103	78190492	Disease	p.Gly60Val	312610.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA 3	OMIM	91	COG5184	NULL
6103	78190492	Disease	p.Gly60Val	312610.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA 3	OMIM	8	pfam00415	NULL
6103	4506581	Disease	p.Thr99Asn	312610.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA 3	OMIM	161	COG5184	NULL
6103	4506581	Disease	p.Thr99Asn	312610.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA 3	OMIM	86	pfam00415	NULL
6103	78190492	Disease	p.Thr99Asn	312610.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA 3	OMIM	161	COG5184	NULL
6103	78190492	Disease	p.Thr99Asn	312610.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA 3	OMIM	86	pfam00415	NULL
6103	4506581	Disease	p.Gly173Arg	312610.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH DEAFNESS	OMIM	18	pfam00415	NULL
6103	4506581	Disease	p.Gly173Arg	312610.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH DEAFNESS	OMIM	288	COG5184	NULL
6103	78190492	Disease	p.Gly173Arg	312610.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH DEAFNESS	OMIM	18	pfam00415	NULL
6103	78190492	Disease	p.Gly173Arg	312610.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH DEAFNESS	OMIM	288	COG5184	NULL
5255	169881275	Disease	p.Asp299Val	311870.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311870	GLYCOGEN STORAGE DISEASE, TYPE IXd	OMIM	329	pfam00723	NULL
5255	289176994	Disease	p.Asp299Val	311870.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311870	GLYCOGEN STORAGE DISEASE, TYPE IXd	OMIM	329	pfam00723	NULL
5255	110282976	Disease	p.Asp299Val	311870.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311870	GLYCOGEN STORAGE DISEASE, TYPE IXd	OMIM	329	pfam00723	169881273,NP_002628
5255	169881275	Disease	p.Gly223Arg	311870.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311870	GLYCOGEN STORAGE DISEASE, TYPE IXd	OMIM	251	pfam00723	NULL
5255	289176994	Disease	p.Gly223Arg	311870.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311870	GLYCOGEN STORAGE DISEASE, TYPE IXd	OMIM	251	pfam00723	NULL
5255	110282976	Disease	p.Gly223Arg	311870.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311870	GLYCOGEN STORAGE DISEASE, TYPE IXd	OMIM	251	pfam00723	169881273,NP_002628
221823	125585	Disease	p.Asn113Ser	311850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY	OMIM	250	COG0462	28557709,NP_787082
221823	125585	Disease	p.Asp182His	311850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY	OMIM	324	COG0462	28557709,NP_787082
221823	125585	Disease	p.Asp182His	311850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY	OMIM	73	pfam00156	28557709,NP_787082
221823	125585	Disease	p.Asp51His	311850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY	OMIM	60	COG0462	28557709,NP_787082
79742	193804856	Disease	p.Asp51His	311850.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Asp51His	311850.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
221823	125585	Disease	p.Leu128Ile	311850.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY	OMIM	265	COG0462	28557709,NP_787082
79742	193804856	Disease	p.Leu128Ile	311850.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Leu128Ile	311850.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
221823	125585	Disease	p.Ala189Val	311850.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY	OMIM	333	COG0462	28557709,NP_787082
221823	125585	Disease	p.Ala189Val	311850.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY	OMIM	88	pfam00156	28557709,NP_787082
221823	125585	Disease	p.His192Gln	311850.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY	OMIM	336	COG0462	28557709,NP_787082
221823	125585	Disease	p.His192Gln	311850.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY	OMIM	91	pfam00156	28557709,NP_787082
221823	125585	Disease	p.Glu43Asp	311850.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5	OMIM	52	COG0462	28557709,NP_787082
221823	125585	Disease	p.Met115Thr	311850.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5	OMIM	252	COG0462	28557709,NP_787082
221823	125585	Disease	p.Leu152Pro	311850.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	ARTS SYNDROME	OMIM	292	COG0462	28557709,NP_787082
221823	125585	Disease	p.Leu152Pro	311850.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	ARTS SYNDROME	OMIM	17	pfam00156	28557709,NP_787082
221823	125585	Disease	p.Gln133Pro	311850.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	ARTS SYNDROME	OMIM	270	COG0462	28557709,NP_787082
221823	125585	Disease	p.Asp65Asn	311850.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	DEAFNESS, X-LINKED 1	OMIM	90	COG0462	28557709,NP_787082
221823	125585	Disease	p.Ala87Thr	311850.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	DEAFNESS, X-LINKED 1	OMIM	112	COG0462	28557709,NP_787082
221823	125585	Disease	p.Gly306Arg	311850.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	DEAFNESS, X-LINKED 1	OMIM	563	COG0462	28557709,NP_787082
221823	125585	Disease	p.Ile290Thr	311850.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311850	DEAFNESS, X-LINKED 1	OMIM	547	COG0462	28557709,NP_787082
5230	52788229	Disease	p.Asp268Asn	311800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MUNCHEN	OMIM	502	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Asp268Asn	311800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MUNCHEN	OMIM	314	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Asp268Asn	311800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MUNCHEN	OMIM	373	cd00318	4505763,NP_000282
5230	52788229	Disease	p.Arg206Pro	311800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, UPPSALA	OMIM	377	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Arg206Pro	311800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, UPPSALA	OMIM	241	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Arg206Pro	311800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, UPPSALA	OMIM	302	cd00318	4505763,NP_000282
5230	52788229	Disease	p.Val266Met	311800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, TOKYO	OMIM	500	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Val266Met	311800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, TOKYO	OMIM	312	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Val266Met	311800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, TOKYO	OMIM	371	cd00318	4505763,NP_000282
5230	52788229	Disease	p.Thr352Asn	311800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1, PGK II	OMIM	619	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Thr352Asn	311800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1, PGK II	OMIM	417	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Thr352Asn	311800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1, PGK II	OMIM	457	cd00318	4505763,NP_000282
5230	52788229	Disease	p.Leu88Pro	311800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MATSUE	OMIM	204	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Leu88Pro	311800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MATSUE	OMIM	109	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Leu88Pro	311800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MATSUE	OMIM	178	cd00318	4505763,NP_000282
5230	52788229	Disease	p.Gly157Val	311800.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, SHIZUOKA	OMIM	314	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Gly157Val	311800.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, SHIZUOKA	OMIM	184	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Gly157Val	311800.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, SHIZUOKA	OMIM	251	cd00318	4505763,NP_000282
5230	52788229	Disease	p.Cys315Arg	311800.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MICHIGAN	OMIM	580	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Cys315Arg	311800.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MICHIGAN	OMIM	371	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Cys315Arg	311800.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MICHIGAN	OMIM	420	cd00318	4505763,NP_000282
5230	52788229	Disease	p.Ile252Thr	311800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HAMAMATSU	OMIM	444	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Ile252Thr	311800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HAMAMATSU	OMIM	289	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Ile252Thr	311800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HAMAMATSU	OMIM	350	cd00318	4505763,NP_000282
5230	52788229	Disease	p.Asp285Val	311800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HERLEV	OMIM	526	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Asp285Val	311800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HERLEV	OMIM	331	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Asp285Val	311800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HERLEV	OMIM	390	cd00318	4505763,NP_000282
5230	52788229	Disease	p.Ile46Asn	311800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, BARCELONA	OMIM	61	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Ile46Asn	311800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, BARCELONA	OMIM	47	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Ile46Asn	311800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, BARCELONA	OMIM	41	cd00318	4505763,NP_000282
5230	52788229	Disease	p.Ser319Asn	311800.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MURCIA	OMIM	584	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Ser319Asn	311800.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MURCIA	OMIM	375	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Ser319Asn	311800.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MURCIA	OMIM	424	cd00318	4505763,NP_000282
5230	52788229	Disease	p.Asp164Val	311800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AMIENS	OMIM	324	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Asp164Val	311800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AMIENS	OMIM	194	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Asp164Val	311800.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AMIENS	OMIM	258	cd00318	4505763,NP_000282
5230	52788229	Disease	p.Thr378Pro	311800.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AFULA	OMIM	661	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Thr378Pro	311800.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AFULA	OMIM	444	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Thr378Pro	311800.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=311800	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AFULA	OMIM	484	cd00318	4505763,NP_000282
2332	297374779	Disease	p.Ile304Asn	309550.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309550	FRAGILE X MENTAL RETARDATION SYNDROME	OMIM	25	pfam00013	NULL
2332	297374791	Disease	p.Ile304Asn	309550.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309550	FRAGILE X MENTAL RETARDATION SYNDROME	OMIM	25	pfam00013	NULL
2332	297374777	Disease	p.Ile304Asn	309550.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309550	FRAGILE X MENTAL RETARDATION SYNDROME	OMIM	25	pfam00013	NULL
2332	544328	Disease	p.Ile304Asn	309550.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309550	FRAGILE X MENTAL RETARDATION SYNDROME	OMIM	25	pfam00013	4503765,NP_002015
2332	297374789	Disease	p.Ile304Asn	309550.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309550	FRAGILE X MENTAL RETARDATION SYNDROME	OMIM	25	pfam00013	NULL
3920	1708854	Disease	p.Val310Ile	309060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309060	DANON DISEASE	OMIM	263	pfam01299	4504957,NP_002285
3920	7669503	Disease	p.Val310Ile	309060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309060	DANON DISEASE	OMIM	263	pfam01299	NULL
3920	169790833	Disease	p.Val310Ile	309060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309060	DANON DISEASE	OMIM	263	pfam01299	NULL
3920	1708854	Disease	p.Trp321Arg	309060.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309060	DANON DISEASE	OMIM	277	pfam01299	4504957,NP_002285
3920	7669503	Disease	p.Trp321Arg	309060.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309060	DANON DISEASE	OMIM	277	pfam01299	NULL
3920	169790833	Disease	p.Trp321Arg	309060.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309060	DANON DISEASE	OMIM	277	pfam01299	NULL
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	21	cd05722	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	25	cd05730	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	23	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	6	cd05723	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	18	cd05724	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	16	cd05857	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	18	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	18	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	16	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	16	cd05856	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	23	cd07693	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	23	cd05851	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	25	cd05740	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	8	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	8	pfam00047	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	8	cd05764	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	8	cd04969	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	8	cd05743	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	9	smart00408	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	9	cd05745	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	5	cd05750	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	5	cd05760	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	5	cd05746	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	5	cd05731	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	5	cd05876	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	5	cd00096	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	5	cd05725	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	23	pfam07679	4557707,NP_000416
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	21	cd05722	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	25	cd05730	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	23	cd04968	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	6	cd05723	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	18	cd05724	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	16	cd05857	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	18	smart00409	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	18	smart00410	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	16	cd05729	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	16	cd05856	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	23	cd07693	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	23	cd05851	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	25	cd05740	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	8	cd04978	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	8	pfam00047	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	8	cd05764	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	8	cd04969	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	8	cd05743	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	9	smart00408	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	9	cd05745	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	5	cd05750	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	5	cd05760	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	5	cd05746	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	5	cd05731	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	5	cd05876	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	5	cd00096	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	5	cd05725	NULL
3897	13435353	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	23	pfam07679	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	28	pfam07679	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	24	smart00409	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	24	smart00410	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	10	cd05725	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	24	cd00096	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	10	cd05760	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	10	cd05746	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	11	cd05750	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	10	cd05731	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	10	cd05876	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	28	cd05851	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	30	cd05740	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	13	cd05764	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	13	cd04969	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	13	cd05743	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	18	pfam00047	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	13	cd04978	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	28	cd04968	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	11	cd05723	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	21	cd05729	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	21	cd05856	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	28	cd07693	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	26	cd05722	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	24	cd05724	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	21	cd05857	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	30	cd05730	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	14	cd05745	NULL
3897	221316760	Disease	p.Cys264Tyr	308840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	15	smart00408	NULL
3897	1705571	Disease	p.His210Gln	308840.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	77	cd05845	4557707,NP_000416
3897	1705571	Disease	p.His210Gln	308840.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	201	smart00409	4557707,NP_000416
3897	1705571	Disease	p.His210Gln	308840.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	201	smart00410	4557707,NP_000416
3897	1705571	Disease	p.His210Gln	308840.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	79	cd05727	4557707,NP_000416
3897	13435353	Disease	p.His210Gln	308840.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	77	cd05845	NULL
3897	13435353	Disease	p.His210Gln	308840.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	201	smart00409	NULL
3897	13435353	Disease	p.His210Gln	308840.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	201	smart00410	NULL
3897	13435353	Disease	p.His210Gln	308840.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	79	cd05727	NULL
3897	221316760	Disease	p.His210Gln	308840.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	82	cd05845	NULL
3897	221316760	Disease	p.His210Gln	308840.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	219	smart00409	NULL
3897	221316760	Disease	p.His210Gln	308840.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	219	smart00410	NULL
3897	221316760	Disease	p.His210Gln	308840.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	84	cd05727	NULL
3897	1705571	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	75	cd05728	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	84	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	227	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	227	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	86	cd05722	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	83	cd04967	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	77	cd04969	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	78	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	83	cd05724	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	71	cd05853	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	71	cd04970	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	88	cd07693	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	64	cd05745	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	165	cd00096	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	60	cd05746	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	103	pfam07679	4557707,NP_000416
3897	13435353	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	75	cd05728	NULL
3897	13435353	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	84	cd05729	NULL
3897	13435353	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	227	smart00409	NULL
3897	13435353	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	227	smart00410	NULL
3897	13435353	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	86	cd05722	NULL
3897	13435353	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	83	cd04967	NULL
3897	13435353	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	77	cd04969	NULL
3897	13435353	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	78	cd04978	NULL
3897	13435353	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	83	cd05724	NULL
3897	13435353	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	71	cd05853	NULL
3897	13435353	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	71	cd04970	NULL
3897	13435353	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	88	cd07693	NULL
3897	13435353	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	64	cd05745	NULL
3897	13435353	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	165	cd00096	NULL
3897	13435353	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	60	cd05746	NULL
3897	13435353	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	103	pfam07679	NULL
3897	221316760	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	238	smart00409	NULL
3897	221316760	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	238	smart00410	NULL
3897	221316760	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	69	cd05745	NULL
3897	221316760	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	94	cd07693	NULL
3897	221316760	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	88	cd05724	NULL
3897	221316760	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	91	cd05722	NULL
3897	221316760	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	88	cd04967	NULL
3897	221316760	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	80	cd05728	NULL
3897	221316760	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	108	pfam07679	NULL
3897	221316760	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	82	cd04969	NULL
3897	221316760	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	65	cd05746	NULL
3897	221316760	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	170	cd00096	NULL
3897	221316760	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	76	cd05853	NULL
3897	221316760	Disease	p.Asp598Asn	308840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	MASA SYNDROME	OMIM	76	cd04970	NULL
3897	1705571	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	20	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	23	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	23	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	13	cd05745	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	14	smart00408	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	12	cd05764	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	12	cd04969	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	12	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	9	cd05725	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	9	cd05736	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	9	cd00096	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	9	cd05746	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	27	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	27	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	25	cd05728	4557707,NP_000416
3897	13435353	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	20	cd05729	NULL
3897	13435353	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	23	smart00409	NULL
3897	13435353	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	23	smart00410	NULL
3897	13435353	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	13	cd05745	NULL
3897	13435353	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	14	smart00408	NULL
3897	13435353	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	12	cd05764	NULL
3897	13435353	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	12	cd04969	NULL
3897	13435353	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	12	cd04978	NULL
3897	13435353	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	9	cd05725	NULL
3897	13435353	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	9	cd05736	NULL
3897	13435353	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	9	cd00096	NULL
3897	13435353	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	9	cd05746	NULL
3897	13435353	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	27	pfam07679	NULL
3897	13435353	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	27	cd04968	NULL
3897	13435353	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	25	cd05728	NULL
3897	221316760	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	44	smart00409	NULL
3897	221316760	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	44	smart00410	NULL
3897	221316760	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	25	cd05729	NULL
3897	221316760	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	19	smart00408	NULL
3897	221316760	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	18	cd05745	NULL
3897	221316760	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	30	cd05728	NULL
3897	221316760	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	32	cd04968	NULL
3897	221316760	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	33	pfam07679	NULL
3897	221316760	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	17	cd04978	NULL
3897	221316760	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	17	cd05764	NULL
3897	221316760	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	17	cd04969	NULL
3897	221316760	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	14	cd05736	NULL
3897	221316760	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	14	cd05725	NULL
3897	221316760	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	28	cd00096	NULL
3897	221316760	Disease	p.Gly452Arg	308840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	14	cd05746	NULL
3897	1705571	Disease	p.Arg184Gln	308840.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	51	cd05845	4557707,NP_000416
3897	1705571	Disease	p.Arg184Gln	308840.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	123	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Arg184Gln	308840.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	123	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Arg184Gln	308840.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	53	cd05727	4557707,NP_000416
3897	13435353	Disease	p.Arg184Gln	308840.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	51	cd05845	NULL
3897	13435353	Disease	p.Arg184Gln	308840.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	123	smart00409	NULL
3897	13435353	Disease	p.Arg184Gln	308840.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	123	smart00410	NULL
3897	13435353	Disease	p.Arg184Gln	308840.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	53	cd05727	NULL
3897	221316760	Disease	p.Arg184Gln	308840.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	56	cd05845	NULL
3897	221316760	Disease	p.Arg184Gln	308840.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	154	smart00409	NULL
3897	221316760	Disease	p.Arg184Gln	308840.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	154	smart00410	NULL
3897	221316760	Disease	p.Arg184Gln	308840.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED	OMIM	58	cd05727	NULL
3897	1705571	Disease	p.Ser1194Leu	308840.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED||MASA SYNDROME	OMIM	No Domain	N/A	4557707,NP_000416
3897	13435353	Disease	p.Ser1194Leu	308840.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED||MASA SYNDROME	OMIM	No Domain	N/A	NULL
3897	221316760	Disease	p.Ser1194Leu	308840.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED||MASA SYNDROME	OMIM	No Domain	N/A	NULL
3897	1705571	Disease	p.Ile179Ser	308840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	46	cd05845	4557707,NP_000416
3897	1705571	Disease	p.Ile179Ser	308840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	116	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Ile179Ser	308840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	116	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Ile179Ser	308840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	48	cd05727	4557707,NP_000416
3897	13435353	Disease	p.Ile179Ser	308840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	46	cd05845	NULL
3897	13435353	Disease	p.Ile179Ser	308840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	116	smart00409	NULL
3897	13435353	Disease	p.Ile179Ser	308840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	116	smart00410	NULL
3897	13435353	Disease	p.Ile179Ser	308840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	48	cd05727	NULL
3897	221316760	Disease	p.Ile179Ser	308840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	51	cd05845	NULL
3897	221316760	Disease	p.Ile179Ser	308840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	123	smart00409	NULL
3897	221316760	Disease	p.Ile179Ser	308840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	123	smart00410	NULL
3897	221316760	Disease	p.Ile179Ser	308840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	53	cd05727	NULL
3897	1705571	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	50	smart00408	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	42	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	38	cd05722	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	37	cd05728	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	32	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	76	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	76	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	32	cd05857	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	23_G	cd05765	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	24	cd05743	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	24	cd05867	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	24	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	24	cd05868	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	35	cd00096	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	21	cd05763	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	40	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	35	cd05724	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	32	cd05856	4557707,NP_000416
3897	13435353	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	50	smart00408	NULL
3897	13435353	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	42	pfam07679	NULL
3897	13435353	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	38	cd05722	NULL
3897	13435353	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	37	cd05728	NULL
3897	13435353	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	32	cd05729	NULL
3897	13435353	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	76	smart00409	NULL
3897	13435353	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	76	smart00410	NULL
3897	13435353	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	32	cd05857	NULL
3897	13435353	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	23_G	cd05765	NULL
3897	13435353	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	24	cd05743	NULL
3897	13435353	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	24	cd05867	NULL
3897	13435353	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	24	cd04978	NULL
3897	13435353	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	24	cd05868	NULL
3897	13435353	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	35	cd00096	NULL
3897	13435353	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	21	cd05763	NULL
3897	13435353	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	40	cd04968	NULL
3897	13435353	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	35	cd05724	NULL
3897	13435353	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	32	cd05856	NULL
3897	221316760	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	43_G	cd04968	NULL
3897	221316760	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	43	cd05722	NULL
3897	221316760	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	39	cd05728	NULL
3897	221316760	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	39	cd05729	NULL
3897	221316760	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	94	smart00409	NULL
3897	221316760	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	94	smart00410	NULL
3897	221316760	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	26	cd05763	NULL
3897	221316760	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	40	cd00096	NULL
3897	221316760	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	47	pfam07679	NULL
3897	221316760	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	28	cd05765	NULL
3897	221316760	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	29	cd05743	NULL
3897	221316760	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	29	cd05867	NULL
3897	221316760	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	29	cd04978	NULL
3897	221316760	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	29	cd05868	NULL
3897	221316760	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	61	smart00408	NULL
3897	221316760	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	40	cd05724	NULL
3897	221316760	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	37	cd05857	NULL
3897	221316760	Disease	p.Gly370Arg	308840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	CRASH SYNDROME	OMIM	39	cd05856	NULL
3897	1705571	Disease	p.Val752Met	308840.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE	OMIM	64	cd00063	4557707,NP_000416
3897	1705571	Disease	p.Val752Met	308840.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE	OMIM	68	smart00060	4557707,NP_000416
3897	1705571	Disease	p.Val752Met	308840.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE	OMIM	41	pfam00041	4557707,NP_000416
3897	13435353	Disease	p.Val752Met	308840.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE	OMIM	64	cd00063	NULL
3897	13435353	Disease	p.Val752Met	308840.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE	OMIM	68	smart00060	NULL
3897	13435353	Disease	p.Val752Met	308840.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE	OMIM	41	pfam00041	NULL
3897	221316760	Disease	p.Val752Met	308840.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE	OMIM	69	cd00063	NULL
3897	221316760	Disease	p.Val752Met	308840.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE	OMIM	74	smart00060	NULL
3897	221316760	Disease	p.Val752Met	308840.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE	OMIM	49	pfam00041	NULL
3897	1705571	Disease	p.Pro240Leu	308840.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED||CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	OMIM	8	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Pro240Leu	308840.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED||CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	OMIM	2	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Pro240Leu	308840.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED||CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	OMIM	2	cd05856	4557707,NP_000416
3897	1705571	Disease	p.Pro240Leu	308840.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED||CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	OMIM	2	cd07693	4557707,NP_000416
3897	13435353	Disease	p.Pro240Leu	308840.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED||CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	OMIM	8	cd04968	NULL
3897	13435353	Disease	p.Pro240Leu	308840.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED||CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	OMIM	2	cd05729	NULL
3897	13435353	Disease	p.Pro240Leu	308840.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED||CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	OMIM	2	cd05856	NULL
3897	13435353	Disease	p.Pro240Leu	308840.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED||CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	OMIM	2	cd07693	NULL
3897	221316760	Disease	p.Pro240Leu	308840.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED||CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	OMIM	4	pfam07679	NULL
3897	221316760	Disease	p.Pro240Leu	308840.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED||CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	OMIM	9_G	cd04968	NULL
3897	221316760	Disease	p.Pro240Leu	308840.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED||CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	OMIM	7	cd05729	NULL
3897	221316760	Disease	p.Pro240Leu	308840.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED||CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	OMIM	7	cd05856	NULL
3897	221316760	Disease	p.Pro240Leu	308840.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED||CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	OMIM	4_G	cd07693	NULL
3897	221316760	Disease	p.Pro240Leu	308840.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED||CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	OMIM	2	cd05722	NULL
3897	221316760	Disease	p.Pro240Leu	308840.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308840	HYDROCEPHALUS, X-LINKED||CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	OMIM	6	cd05730	NULL
3730	134048661	Disease	p.Glu514Lys	308700.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308700	KALLMANN SYNDROME 1	OMIM	No Domain	N/A	119395746,NP_000207
3730	134048661	Disease	p.Ser396Leu	308700.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308700	KALLMANN SYNDROME 1	OMIM	No Domain	N/A	119395746,NP_000207
3561	400048	Disease	p.Gly114Asp	308380.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308380	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED	OMIM	83	pfam09240	4557882,NP_000197
3561	400048	Disease	p.Ile153Asn	308380.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308380	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED	OMIM	No Domain	N/A	4557882,NP_000197
3561	400048	Disease	p.Leu271Gln	308380.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308380	COMBINED IMMUNODEFICIENCY, X-LINKED	OMIM	No Domain	N/A	4557882,NP_000197
3561	400048	Disease	p.Cys115Arg	308380.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308380	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED	OMIM	84	pfam09240	4557882,NP_000197
3561	400048	Disease	p.Arg285Gln	308380.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308380	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED	OMIM	No Domain	N/A	4557882,NP_000197
3561	400048	Disease	p.Arg222Cys	308380.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308380	COMBINED IMMUNODEFICIENCY, X-LINKED	OMIM	178	smart00060	4557882,NP_000197
3561	400048	Disease	p.Arg222Cys	308380.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308380	COMBINED IMMUNODEFICIENCY, X-LINKED	OMIM	158	cd00063	4557882,NP_000197
3561	400048	Disease	p.Leu151Pro	308380.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308380	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED	OMIM	No Domain	N/A	4557882,NP_000197
3251	123497	Disease	p.Ile132Met	308000.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT ANN ARBOR	OMIM	205	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Ile132Met	308000.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT ANN ARBOR	OMIM	111	COG2236	4504483,NP_000185
3251	123497	Disease	p.Ile132Met	308000.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT ANN ARBOR	OMIM	108	COG0634	4504483,NP_000185
3251	123497	Disease	p.Asp80Val	308000.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT ARLINGTON	OMIM	71	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Asp80Val	308000.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT ARLINGTON	OMIM	48	COG2236	4504483,NP_000185
3251	123497	Disease	p.Asp80Val	308000.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT ARLINGTON	OMIM	62	COG0634	4504483,NP_000185
3251	123497	Disease	p.Asp201Gly	308000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT ASHVILLE	OMIM	228	COG2236	4504483,NP_000185
3251	123497	Disease	p.Asp201Gly	308000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT ASHVILLE	OMIM	181	COG0634	4504483,NP_000185
3251	123497	Disease	p.Leu41Pro	308000.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT DETROIT	OMIM	12	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Leu41Pro	308000.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT DETROIT	OMIM	11	COG2236	4504483,NP_000185
3251	123497	Disease	p.Leu41Pro	308000.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT DETROIT	OMIM	17	COG0634	4504483,NP_000185
3251	123497	Disease	p.Phe74Leu	308000.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT FLINT	OMIM	63	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Phe74Leu	308000.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT FLINT	OMIM	42	COG2236	4504483,NP_000185
3251	123497	Disease	p.Phe74Leu	308000.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT FLINT	OMIM	56	COG0634	4504483,NP_000185
3251	123497	Disease	p.Asp194Asn	308000.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT KINSTON	OMIM	214	COG2236	4504483,NP_000185
3251	123497	Disease	p.Asp194Asn	308000.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT KINSTON	OMIM	174	COG0634	4504483,NP_000185
3251	123497	Disease	p.Ser110Leu	308000.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT LONDON	OMIM	183	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Ser110Leu	308000.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT LONDON	OMIM	74	COG2236	4504483,NP_000185
3251	123497	Disease	p.Ser110Leu	308000.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT LONDON	OMIM	87	COG0634	4504483,NP_000185
3251	123497	Disease	p.Val130Asp	308000.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT MIDLAND	OMIM	203	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Val130Asp	308000.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT MIDLAND	OMIM	109	COG2236	4504483,NP_000185
3251	123497	Disease	p.Val130Asp	308000.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT MIDLAND	OMIM	106	COG0634	4504483,NP_000185
3251	123497	Disease	p.Ala161Ser	308000.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT MILWAUKEE	OMIM	248	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Ala161Ser	308000.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT MILWAUKEE	OMIM	142	COG2236	4504483,NP_000185
3251	123497	Disease	p.Ala161Ser	308000.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT MILWAUKEE	OMIM	138	COG0634	4504483,NP_000185
3251	123497	Disease	p.Ser104Arg	308000.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT MUNICH	OMIM	116	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Ser104Arg	308000.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT MUNICH	OMIM	68	COG2236	4504483,NP_000185
3251	123497	Disease	p.Ser104Arg	308000.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT MUNICH	OMIM	80	COG0634	4504483,NP_000185
3251	123497	Disease	p.Phe199Val	308000.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT NEW BRITON	OMIM	226	COG2236	4504483,NP_000185
3251	123497	Disease	p.Phe199Val	308000.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT NEW BRITON	OMIM	179	COG0634	4504483,NP_000185
3251	123497	Disease	p.Gly70Glu	308000.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT NEW HAVEN	OMIM	59	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Gly70Glu	308000.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT NEW HAVEN	OMIM	39	COG2236	4504483,NP_000185
3251	123497	Disease	p.Gly70Glu	308000.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT NEW HAVEN	OMIM	52	COG0634	4504483,NP_000185
3251	123497	Disease	p.Gly71Arg	308000.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT YALE	OMIM	60	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Gly71Arg	308000.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT YALE	OMIM	40	COG2236	4504483,NP_000185
3251	123497	Disease	p.Gly71Arg	308000.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT YALE	OMIM	53	COG0634	4504483,NP_000185
3251	123497	Disease	p.His203Asp	308000.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME	OMIM	230	COG2236	4504483,NP_000185
3251	123497	Disease	p.His203Asp	308000.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME	OMIM	183	COG0634	4504483,NP_000185
3251	123497	Disease	p.Arg44Lys	308000.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME	OMIM	15	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Arg44Lys	308000.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME	OMIM	14	COG2236	4504483,NP_000185
3251	123497	Disease	p.Arg44Lys	308000.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME	OMIM	20	COG0634	4504483,NP_000185
3251	123497	Disease	p.Asp176Tyr	308000.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME	OMIM	185	COG2236	4504483,NP_000185
3251	123497	Disease	p.Asp176Tyr	308000.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME	OMIM	155	COG0634	4504483,NP_000185
3251	123497	Disease	p.Pro176Leu	308000.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME	OMIM	185	COG2236	4504483,NP_000185
3251	123497	Disease	p.Pro176Leu	308000.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME	OMIM	155	COG0634	4504483,NP_000185
3251	123497	Disease	p.Arg51Gly	308000.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT TORONTO	OMIM	28	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Arg51Gly	308000.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT TORONTO	OMIM	21	COG2236	4504483,NP_000185
3251	123497	Disease	p.Arg51Gly	308000.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT TORONTO	OMIM	27	COG0634	4504483,NP_000185
3251	123497	Disease	p.Met56Thr	308000.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT||HPRT MONTREAL	OMIM	37	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Met56Thr	308000.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT||HPRT MONTREAL	OMIM	25	COG2236	4504483,NP_000185
3251	123497	Disease	p.Met56Thr	308000.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT||HPRT MONTREAL	OMIM	32	COG0634	4504483,NP_000185
3251	123497	Disease	p.Met143Lys	308000.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME	OMIM	217	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Met143Lys	308000.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME	OMIM	122	COG2236	4504483,NP_000185
3251	123497	Disease	p.Met143Lys	308000.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME	OMIM	119	COG0634	4504483,NP_000185
3251	123497	Disease	p.Thr168Ile	308000.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT BRISBANE	OMIM	149	COG2236	4504483,NP_000185
3251	123497	Disease	p.Thr168Ile	308000.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT BRISBANE	OMIM	145	COG0634	4504483,NP_000185
3251	123497	Disease	p.Gly16Ser	308000.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	HPRT DEFICIENCY, PARTIAL||HPRT URANGAN	OMIM	No Domain	N/A	4504483,NP_000185
3251	123497	Disease	p.Gly58Arg	308000.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	HPRT DEFICIENCY, PARTIAL||HPRT TOOWONG	OMIM	39	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Gly58Arg	308000.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	HPRT DEFICIENCY, PARTIAL||HPRT TOOWONG	OMIM	27	COG2236	4504483,NP_000185
3251	123497	Disease	p.Gly58Arg	308000.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	HPRT DEFICIENCY, PARTIAL||HPRT TOOWONG	OMIM	34	COG0634	4504483,NP_000185
3251	123497	Disease	p.Leu78Val	308000.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	HPRT DEFICIENCY, PARTIAL||HPRT SWAN	OMIM	67	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Leu78Val	308000.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	HPRT DEFICIENCY, PARTIAL||HPRT SWAN	OMIM	46	COG2236	4504483,NP_000185
3251	123497	Disease	p.Leu78Val	308000.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	HPRT DEFICIENCY, PARTIAL||HPRT SWAN	OMIM	60	COG0634	4504483,NP_000185
3251	123497	Disease	p.Asp52Gly	308000.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT EDINBURGH	OMIM	29	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Asp52Gly	308000.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT EDINBURGH	OMIM	22	COG2236	4504483,NP_000185
3251	123497	Disease	p.Asp52Gly	308000.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT EDINBURGH	OMIM	28	COG0634	4504483,NP_000185
3251	123497	Disease	p.Gly140Asp	308000.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT TOKYO	OMIM	214	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Gly140Asp	308000.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT TOKYO	OMIM	119	COG2236	4504483,NP_000185
3251	123497	Disease	p.Gly140Asp	308000.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	LESCH-NYHAN SYNDROME||HPRT TOKYO	OMIM	116	COG0634	4504483,NP_000185
3251	123497	Disease	p.Asp194Glu	308000.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT MOOSE JAW	OMIM	214	COG2236	4504483,NP_000185
3251	123497	Disease	p.Asp194Glu	308000.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	GOUT, HPRT-RELATED||HPRT MOOSE JAW	OMIM	174	COG0634	4504483,NP_000185
3251	123497	Disease	p.Leu65Phe	308000.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	HPRT DEFICIENCY, PARTIAL	OMIM	52	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Leu65Phe	308000.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	HPRT DEFICIENCY, PARTIAL	OMIM	34	COG2236	4504483,NP_000185
3251	123497	Disease	p.Leu65Phe	308000.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308000	HPRT DEFICIENCY, PARTIAL	OMIM	47	COG0634	4504483,NP_000185
2157	10518506	Disease	p.Arg2209Gln	306700.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg2209Gln	306700.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	2	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2209Gln	306700.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	15	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2209Gln	306700.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	30	smart00231	4503647,NP_000123
2157	10518506	Disease	p.Glu272Gly	306700.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Glu272Gly	306700.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	104	pfam00394	4503647,NP_000123
2157	10518506	Disease	p.Arg2307Leu	306700.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg2307Leu	306700.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	165	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2307Leu	306700.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	184	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2307Leu	306700.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	305	smart00231	4503647,NP_000123
2157	10518506	Disease	p.Arg1941Gln	306700.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg1941Gln	306700.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	46	pfam07731	4503647,NP_000123
2157	10518506	Disease	p.Arg372His	306700.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	FACTOR VIII (OKAYAMA)	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg372His	306700.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	FACTOR VIII (OKAYAMA)	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Arg1689Cys	306700.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A||FACTOR VIII (EAST HARTFORD)	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg1689Cys	306700.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A||FACTOR VIII (EAST HARTFORD)	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Tyr1680Phe	306700.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Tyr1680Phe	306700.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Tyr1709Cys	306700.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Tyr1709Cys	306700.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Arg372Cys	306700.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg372Cys	306700.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Arg2307Gln	306700.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg2307Gln	306700.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	165	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2307Gln	306700.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	184	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2307Gln	306700.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	305	smart00231	4503647,NP_000123
2157	10518506	Disease	p.Leu2166Ser	306700.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Leu2166Ser	306700.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	200	cd00057	4503647,NP_000123
2157	119767	Disease	p.Leu2166Ser	306700.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	329	smart00231	4503647,NP_000123
2157	119767	Disease	p.Leu2166Ser	306700.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	195	pfam00754	4503647,NP_000123
2157	10518506	Disease	p.Arg2116Pro	306700.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg2116Pro	306700.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	101	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2116Pro	306700.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	195	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2116Pro	306700.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	115	pfam00754	4503647,NP_000123
2157	10518506	Disease	p.Ser170Leu	306700.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	182	cd00057	NULL
2157	10518506	Disease	p.Ser170Leu	306700.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	303	smart00231	NULL
2157	10518506	Disease	p.Ser170Leu	306700.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	163	pfam00754	NULL
2157	119767	Disease	p.Ser170Leu	306700.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Asn1922Asp	306700.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Asn1922Asp	306700.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	8	pfam07731	4503647,NP_000123
2157	10518506	Disease	p.Cys329Arg	306700.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Cys329Arg	306700.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	180	pfam00394	4503647,NP_000123
2157	10518506	Disease	p.Val326Leu	306700.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Val326Leu	306700.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	177	pfam00394	4503647,NP_000123
2157	10518506	Disease	p.Glu1704Lys	306700.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Glu1704Lys	306700.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Pro2300Ser	306700.0064	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Pro2300Ser	306700.0064	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	158	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Pro2300Ser	306700.0064	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	177	cd00057	4503647,NP_000123
2157	119767	Disease	p.Pro2300Ser	306700.0064	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	295	smart00231	4503647,NP_000123
2157	10518506	Disease	p.Met1772Thr	306700.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Met1772Thr	306700.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Ile566Thr	306700.0066	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Ile566Thr	306700.0066	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	122	pfam07732	4503647,NP_000123
2157	10518506	Disease	p.Leu7Arg	306700.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Leu7Arg	306700.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Glu11Val	306700.0071	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Glu11Val	306700.0071	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Gly22Cys	306700.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Gly22Cys	306700.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Gly70Asp	306700.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	11	cd00057	NULL
2157	10518506	Disease	p.Gly70Asp	306700.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	18	smart00231	NULL
2157	119767	Disease	p.Gly70Asp	306700.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Gly73Val	306700.0081	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	14	cd00057	NULL
2157	10518506	Disease	p.Gly73Val	306700.0081	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	28	smart00231	NULL
2157	119767	Disease	p.Gly73Val	306700.0081	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Val80Asp	306700.0082	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	22	cd00057	NULL
2157	10518506	Disease	p.Val80Asp	306700.0082	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	50	smart00231	NULL
2157	10518506	Disease	p.Val80Asp	306700.0082	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	10	pfam00754	NULL
2157	119767	Disease	p.Val80Asp	306700.0082	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Val85Asp	306700.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	29	cd00057	NULL
2157	10518506	Disease	p.Val85Asp	306700.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	55	smart00231	NULL
2157	10518506	Disease	p.Val85Asp	306700.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	15	pfam00754	NULL
2157	119767	Disease	p.Val85Asp	306700.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Lys89Thr	306700.0084	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	33	cd00057	NULL
2157	10518506	Disease	p.Lys89Thr	306700.0084	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	67	smart00231	NULL
2157	10518506	Disease	p.Lys89Thr	306700.0084	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	26	pfam00754	NULL
2157	119767	Disease	p.Lys89Thr	306700.0084	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Met91Val	306700.0085	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	35	cd00057	NULL
2157	10518506	Disease	p.Met91Val	306700.0085	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	69	smart00231	NULL
2157	10518506	Disease	p.Met91Val	306700.0085	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	28	pfam00754	NULL
2157	119767	Disease	p.Met91Val	306700.0085	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Leu98Arg	306700.0086	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	44	cd00057	NULL
2157	10518506	Disease	p.Leu98Arg	306700.0086	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	82	smart00231	NULL
2157	10518506	Disease	p.Leu98Arg	306700.0086	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	38	pfam00754	NULL
2157	119767	Disease	p.Leu98Arg	306700.0086	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Gly111Arg	306700.0087	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	70	cd00057	NULL
2157	10518506	Disease	p.Gly111Arg	306700.0087	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	133	smart00231	NULL
2157	10518506	Disease	p.Gly111Arg	306700.0087	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	72	pfam00754	NULL
2157	119767	Disease	p.Gly111Arg	306700.0087	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Glu113Asp	306700.0088	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	72	cd00057	NULL
2157	10518506	Disease	p.Glu113Asp	306700.0088	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	136	smart00231	NULL
2157	10518506	Disease	p.Glu113Asp	306700.0088	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	74	pfam00754	NULL
2157	119767	Disease	p.Glu113Asp	306700.0088	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Tyr114Cys	306700.0089	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	73	cd00057	NULL
2157	10518506	Disease	p.Tyr114Cys	306700.0089	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	140	smart00231	NULL
2157	10518506	Disease	p.Tyr114Cys	306700.0089	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	75	pfam00754	NULL
2157	119767	Disease	p.Tyr114Cys	306700.0089	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Asp116Gly	306700.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	75	cd00057	NULL
2157	10518506	Disease	p.Asp116Gly	306700.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	144	smart00231	NULL
2157	10518506	Disease	p.Asp116Gly	306700.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	77	pfam00754	NULL
2157	119767	Disease	p.Asp116Gly	306700.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Tyr118Ile	306700.0091	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	77	cd00057	NULL
2157	10518506	Disease	p.Tyr118Ile	306700.0091	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	148	smart00231	NULL
2157	10518506	Disease	p.Tyr118Ile	306700.0091	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	81	pfam00754	NULL
2157	119767	Disease	p.Tyr118Ile	306700.0091	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Gly145Val	306700.0092	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	106	cd00057	NULL
2157	10518506	Disease	p.Gly145Val	306700.0092	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	217	smart00231	NULL
2157	10518506	Disease	p.Gly145Val	306700.0092	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	120	pfam00754	NULL
2157	119767	Disease	p.Gly145Val	306700.0092	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Pro146Ser	306700.0093	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	107	cd00057	NULL
2157	10518506	Disease	p.Pro146Ser	306700.0093	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	223	smart00231	NULL
2157	10518506	Disease	p.Pro146Ser	306700.0093	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	121	pfam00754	NULL
2157	119767	Disease	p.Pro146Ser	306700.0093	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Val162Met	306700.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	174	cd00057	NULL
2157	10518506	Disease	p.Val162Met	306700.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	290	smart00231	NULL
2157	10518506	Disease	p.Val162Met	306700.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	147	pfam00754	NULL
2157	119767	Disease	p.Val162Met	306700.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Lys166Thr	306700.0095	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	178	cd00057	NULL
2157	10518506	Disease	p.Lys166Thr	306700.0095	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	297	smart00231	NULL
2157	10518506	Disease	p.Lys166Thr	306700.0095	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	159	pfam00754	NULL
2157	119767	Disease	p.Lys166Thr	306700.0095	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Asp203Val	306700.0096	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	219	cd00057	NULL
2157	10518506	Disease	p.Asp203Val	306700.0096	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	366	smart00231	NULL
2157	10518506	Disease	p.Asp203Val	306700.0096	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	222	pfam00754	NULL
2157	119767	Disease	p.Asp203Val	306700.0096	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Gly205Trp	306700.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	222	cd00057	NULL
2157	10518506	Disease	p.Gly205Trp	306700.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	370	smart00231	NULL
2157	10518506	Disease	p.Gly205Trp	306700.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	224	pfam00754	NULL
2157	119767	Disease	p.Gly205Trp	306700.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Gly247Gln	306700.0102	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Gly247Gln	306700.0102	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	30	pfam00394	4503647,NP_000123
2157	10518506	Disease	p.Gly259Arg	306700.0104	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Gly259Arg	306700.0104	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	91	pfam00394	4503647,NP_000123
2157	10518506	Disease	p.Val266Gly	306700.0106	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Val266Gly	306700.0106	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	98	pfam00394	4503647,NP_000123
2157	10518506	Disease	p.Thr275Ile	306700.0107	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Thr275Ile	306700.0107	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	107	pfam00394	4503647,NP_000123
2157	10518506	Disease	p.Asn280Ile	306700.0108	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Asn280Ile	306700.0108	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	112	pfam00394	4503647,NP_000123
2157	10518506	Disease	p.Arg282His	306700.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg282His	306700.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	114	pfam00394	4503647,NP_000123
2157	10518506	Disease	p.Arg282Leu	306700.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg282Leu	306700.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	114	pfam00394	4503647,NP_000123
2157	10518506	Disease	p.Ser289Leu	306700.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Ser289Leu	306700.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	121	pfam00394	4503647,NP_000123
2157	10518506	Disease	p.Phe293Ser	306700.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Phe293Ser	306700.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	125	pfam00394	4503647,NP_000123
2157	10518506	Disease	p.Thr295Ala	306700.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Thr295Ala	306700.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	128	pfam00394	4503647,NP_000123
2157	10518506	Disease	p.Leu308Pro	306700.0116	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Leu308Pro	306700.0116	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	151	pfam00394	4503647,NP_000123
2157	10518506	Disease	p.Cys329Tyr	306700.0118	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Cys329Tyr	306700.0118	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	180	pfam00394	4503647,NP_000123
2157	10518506	Disease	p.Cys329Ser	306700.0119	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Cys329Ser	306700.0119	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	180	pfam00394	4503647,NP_000123
2157	10518506	Disease	p.Ser373Leu	306700.0122	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Ser373Leu	306700.0122	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Ser373Pro	306700.0123	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Ser373Pro	306700.0123	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Ile386Ser	306700.0125	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Ile386Ser	306700.0125	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Glu390Gly	306700.0126	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Glu390Gly	306700.0126	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Leu412Phe	306700.0127	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Leu412Phe	306700.0127	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Lys425Arg	306700.0129	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Lys425Arg	306700.0129	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Tyr431Asn	306700.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Tyr431Asn	306700.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Tyr473His	306700.0131	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Tyr473His	306700.0131	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	32	pfam07732	4503647,NP_000123
2157	10518506	Disease	p.Tyr473Cys	306700.0132	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Tyr473Cys	306700.0132	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	32	pfam07732	4503647,NP_000123
2157	10518506	Disease	p.Ile475Thr	306700.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Ile475Thr	306700.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	34	pfam07732	4503647,NP_000123
2157	10518506	Disease	p.Gly479Arg	306700.0134	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Gly479Arg	306700.0134	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	38	pfam07732	4503647,NP_000123
2157	10518506	Disease	p.Asp525Asn	306700.0138	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Asp525Asn	306700.0138	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	85	pfam07732	4503647,NP_000123
2157	10518506	Disease	p.Arg527Trp	306700.0139	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg527Trp	306700.0139	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	87	pfam07732	4503647,NP_000123
2157	10518506	Disease	p.Arg531Cys	306700.0140	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg531Cys	306700.0140	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	91	pfam07732	4503647,NP_000123
2157	10518506	Disease	p.Arg531Gly	306700.0141	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg531Gly	306700.0141	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	91	pfam07732	4503647,NP_000123
2157	10518506	Disease	p.Arg531His	306700.0142	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg531His	306700.0142	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	91	pfam07732	4503647,NP_000123
2157	10518506	Disease	p.Ser535Gly	306700.0143	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Ser535Gly	306700.0143	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	95	pfam07732	4503647,NP_000123
2157	10518506	Disease	p.Asp542Gly	306700.0144	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Asp542Gly	306700.0144	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	100_G	pfam07732	4503647,NP_000123
2157	10518506	Disease	p.Ser558Phe	306700.0146	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Ser558Phe	306700.0146	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	112	pfam07732	4503647,NP_000123
2157	10518506	Disease	p.Gln565Lys	306700.0147	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Gln565Lys	306700.0147	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	121	pfam07732	4503647,NP_000123
2157	10518506	Disease	p.Ser577Pro	306700.0148	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Ser577Pro	306700.0148	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Ser584Ile	306700.0150	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Ser584Ile	306700.0150	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Trp585Cys	306700.0151	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Trp585Cys	306700.0151	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Tyr586Ser	306700.0152	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Tyr586Ser	306700.0152	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Arg593Cys	306700.0153	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg593Cys	306700.0153	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Asn612Ser	306700.0154	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Asn612Ser	306700.0154	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Val634Ala	306700.0156	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Val634Ala	306700.0156	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Val634Met	306700.0157	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Val634Met	306700.0157	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Ala644Val	306700.0159	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Ala644Val	306700.0159	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Phe658Leu	306700.0161	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Phe658Leu	306700.0161	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Arg698Trp	306700.0162	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg698Trp	306700.0162	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Ala704Thr	306700.0163	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Ala704Thr	306700.0163	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Glu720Lys	306700.0164	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Glu720Lys	306700.0164	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Glu1038Lys	306700.0168	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Glu1038Lys	306700.0168	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Arg1689His	306700.0183	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg1689His	306700.0183	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Arg1696Gly	306700.0185	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg1696Gly	306700.0185	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Gly1750Arg	306700.0187	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Gly1750Arg	306700.0187	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Leu1756Val	306700.0188	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Leu1756Val	306700.0188	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Leu1756Phe	306700.0189	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Leu1756Phe	306700.0189	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Gly1760Glu	306700.0190	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Gly1760Glu	306700.0190	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Arg1781His	306700.0191	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg1781His	306700.0191	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Arg1781Cys	306700.0192	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg1781Cys	306700.0192	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Arg1781Gly	306700.0193	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg1781Gly	306700.0193	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Ser1784Tyr	306700.0194	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Ser1784Tyr	306700.0194	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Leu1789Phe	306700.0195	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Leu1789Phe	306700.0195	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Met1823Ile	306700.0197	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Met1823Ile	306700.0197	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Pro1825Ser	306700.0198	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Pro1825Ser	306700.0198	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Thr1826Pro	306700.0199	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Thr1826Pro	306700.0199	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Ala1834Val	306700.0201	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Ala1834Val	306700.0201	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Asp1846Asn	306700.0203	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Asp1846Asn	306700.0203	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Asp1846Tyr	306700.0204	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Asp1846Tyr	306700.0204	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.His1848Arg	306700.0205	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.His1848Arg	306700.0205	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Pro1854Arg	306700.0206	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Pro1854Arg	306700.0206	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Glu1885Lys	306700.0209	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Glu1885Lys	306700.0209	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Asn1922Ser	306700.0211	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Asn1922Ser	306700.0211	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	8	pfam07731	4503647,NP_000123
2157	10518506	Disease	p.Arg1941Leu	306700.0212	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg1941Leu	306700.0212	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	46	pfam07731	4503647,NP_000123
2157	10518506	Disease	p.Gly1948Asp	306700.0214	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Gly1948Asp	306700.0214	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	53	pfam07731	4503647,NP_000123
2157	10518506	Disease	p.Gly1960Val	306700.0215	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Gly1960Val	306700.0215	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	65	pfam07731	4503647,NP_000123
2157	10518506	Disease	p.His1961Tyr	306700.0216	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.His1961Tyr	306700.0216	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	66	pfam07731	4503647,NP_000123
2157	10518506	Disease	p.Arg1997Trp	306700.0221	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg1997Trp	306700.0221	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	173	pfam07731	4503647,NP_000123
2157	10518506	Disease	p.Asn2019Ser	306700.0222	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Asn2019Ser	306700.0222	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	206	pfam07731	4503647,NP_000123
2157	10518506	Disease	p.Trp2046Arg	306700.0223	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Trp2046Arg	306700.0223	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	5	cd00057	4503647,NP_000123
2157	119767	Disease	p.Trp2046Arg	306700.0223	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	12	smart00231	4503647,NP_000123
2157	10518506	Disease	p.Ser2069Phe	306700.0224	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Ser2069Phe	306700.0224	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	35	cd00057	4503647,NP_000123
2157	119767	Disease	p.Ser2069Phe	306700.0224	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	69	smart00231	4503647,NP_000123
2157	119767	Disease	p.Ser2069Phe	306700.0224	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	28	pfam00754	4503647,NP_000123
2157	10518506	Disease	p.Asp2074Gly	306700.0225	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Asp2074Gly	306700.0225	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	42	cd00057	4503647,NP_000123
2157	119767	Disease	p.Asp2074Gly	306700.0225	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	79	smart00231	4503647,NP_000123
2157	119767	Disease	p.Asp2074Gly	306700.0225	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	36	pfam00754	4503647,NP_000123
2157	10518506	Disease	p.Phe2101Leu	306700.0226	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Phe2101Leu	306700.0226	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	84	cd00057	4503647,NP_000123
2157	119767	Disease	p.Phe2101Leu	306700.0226	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	161	smart00231	4503647,NP_000123
2157	119767	Disease	p.Phe2101Leu	306700.0226	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	89	pfam00754	4503647,NP_000123
2157	10518506	Disease	p.Cys2105Tyr	306700.0227	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Cys2105Tyr	306700.0227	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	88	cd00057	4503647,NP_000123
2157	119767	Disease	p.Cys2105Tyr	306700.0227	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	168	smart00231	4503647,NP_000123
2157	119767	Disease	p.Cys2105Tyr	306700.0227	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	93	pfam00754	4503647,NP_000123
2157	10518506	Disease	p.Ser2119Tyr	306700.0228	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Ser2119Tyr	306700.0228	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	104	cd00057	4503647,NP_000123
2157	119767	Disease	p.Ser2119Tyr	306700.0228	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	210	smart00231	4503647,NP_000123
2157	119767	Disease	p.Ser2119Tyr	306700.0228	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	118	pfam00754	4503647,NP_000123
2157	10518506	Disease	p.Arg2150His	306700.0231	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg2150His	306700.0231	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	184	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2150His	306700.0231	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	305	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2150His	306700.0231	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	165	pfam00754	4503647,NP_000123
2157	10518506	Disease	p.Pro2153Gln	306700.0232	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Pro2153Gln	306700.0232	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	187	cd00057	4503647,NP_000123
2157	119767	Disease	p.Pro2153Gln	306700.0232	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	309	smart00231	4503647,NP_000123
2157	119767	Disease	p.Pro2153Gln	306700.0232	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	168	pfam00754	4503647,NP_000123
2157	10518506	Disease	p.Thr2154Ile	306700.0233	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Thr2154Ile	306700.0233	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	188	cd00057	4503647,NP_000123
2157	119767	Disease	p.Thr2154Ile	306700.0233	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	311	smart00231	4503647,NP_000123
2157	119767	Disease	p.Thr2154Ile	306700.0233	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	169	pfam00754	4503647,NP_000123
2157	10518506	Disease	p.Arg2159Cys	306700.0234	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg2159Cys	306700.0234	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	193	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2159Cys	306700.0234	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	320	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2159Cys	306700.0234	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	183	pfam00754	4503647,NP_000123
2157	10518506	Disease	p.Arg2159Leu	306700.0235	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg2159Leu	306700.0235	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	193	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2159Leu	306700.0235	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	320	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2159Leu	306700.0235	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	183	pfam00754	4503647,NP_000123
2157	10518506	Disease	p.Arg2159His	306700.0236	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg2159His	306700.0236	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	193	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2159His	306700.0236	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	320	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2159His	306700.0236	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	183	pfam00754	4503647,NP_000123
2157	10518506	Disease	p.Arg2163His	306700.0237	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg2163His	306700.0237	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	197	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2163His	306700.0237	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	324	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2163His	306700.0237	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	187	pfam00754	4503647,NP_000123
2157	10518506	Disease	p.Arg2163Cys	306700.0238	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg2163Cys	306700.0238	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	197	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2163Cys	306700.0238	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	324	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2163Cys	306700.0238	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	187	pfam00754	4503647,NP_000123
2157	10518506	Disease	p.Ala2192Pro	306700.0239	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Ala2192Pro	306700.0239	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Arg2209Leu	306700.0241	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg2209Leu	306700.0241	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	2	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2209Leu	306700.0241	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	15	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2209Leu	306700.0241	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	30	smart00231	4503647,NP_000123
2157	10518506	Disease	p.Arg2209Gly	306700.0242	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg2209Gly	306700.0242	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	2	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2209Gly	306700.0242	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	15	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2209Gly	306700.0242	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	30	smart00231	4503647,NP_000123
2157	10518506	Disease	p.Trp2229Cys	306700.0244	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Trp2229Cys	306700.0244	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	31	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Trp2229Cys	306700.0244	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	40	cd00057	4503647,NP_000123
2157	119767	Disease	p.Trp2229Cys	306700.0244	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	76	smart00231	4503647,NP_000123
2157	10518506	Disease	p.Gln2246Arg	306700.0245	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Gln2246Arg	306700.0245	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	72	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Gln2246Arg	306700.0245	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	70	cd00057	4503647,NP_000123
2157	119767	Disease	p.Gln2246Arg	306700.0245	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	133	smart00231	4503647,NP_000123
2157	10518506	Disease	p.Pro2300Leu	306700.0249	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Pro2300Leu	306700.0249	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	158	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Pro2300Leu	306700.0249	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	177	cd00057	4503647,NP_000123
2157	119767	Disease	p.Pro2300Leu	306700.0249	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	295	smart00231	4503647,NP_000123
2157	10518506	Disease	p.Arg2304Cys	306700.0250	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg2304Cys	306700.0250	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	162	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2304Cys	306700.0250	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	181	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2304Cys	306700.0250	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	302	smart00231	4503647,NP_000123
2157	10518506	Disease	p.Arg2304His	306700.0251	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Arg2304His	306700.0251	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	162	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2304His	306700.0251	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	181	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2304His	306700.0251	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	302	smart00231	4503647,NP_000123
2157	10518506	Disease	p.Cys179Gly	306700.0268	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	191	cd00057	NULL
2157	10518506	Disease	p.Cys179Gly	306700.0268	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	316	smart00231	NULL
2157	10518506	Disease	p.Cys179Gly	306700.0268	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	172	pfam00754	NULL
2157	119767	Disease	p.Cys179Gly	306700.0268	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
2157	10518506	Disease	p.Tyr16Cys	306700.0269	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	NULL
2157	119767	Disease	p.Tyr16Cys	306700.0269	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700	HEMOPHILIA A	OMIM	No Domain	N/A	4503647,NP_000123
1438	238908517	Disease	p.Gly174Arg	306250.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306250	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4	OMIM	80	pfam09240	NULL
1438	27437034	Disease	p.Gly174Arg	306250.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306250	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4	OMIM	80	pfam09240	NULL
1438	238908521	Disease	p.Gly174Arg	306250.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306250	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4	OMIM	No Domain	N/A	NULL
1438	121509	Disease	p.Gly174Arg	306250.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306250	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4	OMIM	80	pfam09240	238908515,NP_001155001|27437032,NP_758448|20070195,NP_006131
1438	121509	Disease	p.Gly174Arg	306250.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306250	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4	OMIM	80	pfam09240	238908515,NP_001155001|27437032,NP_758448|20070195,NP_006131
1438	121509	Disease	p.Gly174Arg	306250.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306250	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4	OMIM	80	pfam09240	238908515,NP_001155001|27437032,NP_758448|20070195,NP_006131
1438	27437040	Disease	p.Gly174Arg	306250.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306250	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4	OMIM	80	pfam09240	NULL
1438	238908519	Disease	p.Gly174Arg	306250.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306250	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4	OMIM	80	pfam09240	NULL
1438	27437036	Disease	p.Gly174Arg	306250.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306250	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4	OMIM	80	pfam09240	NULL
2892	163659858	Disease	p.Gly833Arg	305915.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305915	MENTAL RETARDATION, X-LINKED 94	OMIM	401	pfam00060	NULL
2892	163659856	Disease	p.Gly833Arg	305915.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305915	MENTAL RETARDATION, X-LINKED 94	OMIM	401	pfam00060	NULL
2892	163659858	Disease	p.Arg631Ser	305915.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305915	MENTAL RETARDATION, X-LINKED 94	OMIM	141	pfam00060	NULL
2892	163659858	Disease	p.Arg631Ser	305915.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305915	MENTAL RETARDATION, X-LINKED 94	OMIM	315	pfam00497	NULL
2892	163659858	Disease	p.Arg631Ser	305915.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305915	MENTAL RETARDATION, X-LINKED 94	OMIM	174	cd00134	NULL
2892	163659856	Disease	p.Arg631Ser	305915.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305915	MENTAL RETARDATION, X-LINKED 94	OMIM	141	pfam00060	NULL
2892	163659856	Disease	p.Arg631Ser	305915.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305915	MENTAL RETARDATION, X-LINKED 94	OMIM	285_G	cd00134	NULL
2892	163659856	Disease	p.Arg631Ser	305915.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305915	MENTAL RETARDATION, X-LINKED 94	OMIM	315	pfam00497	NULL
2892	163659858	Disease	p.Met706Thr	305915.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305915	MENTAL RETARDATION, X-LINKED 94	OMIM	226	pfam00060	NULL
2892	163659858	Disease	p.Met706Thr	305915.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305915	MENTAL RETARDATION, X-LINKED 94	OMIM	480	pfam00497	NULL
2892	163659858	Disease	p.Met706Thr	305915.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305915	MENTAL RETARDATION, X-LINKED 94	OMIM	251	cd00134	NULL
2892	163659858	Disease	p.Met706Thr	305915.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305915	MENTAL RETARDATION, X-LINKED 94	OMIM	61	smart00079	NULL
2892	163659856	Disease	p.Met706Thr	305915.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305915	MENTAL RETARDATION, X-LINKED 94	OMIM	226	pfam00060	NULL
2892	163659856	Disease	p.Met706Thr	305915.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305915	MENTAL RETARDATION, X-LINKED 94	OMIM	401	cd00134	NULL
2892	163659856	Disease	p.Met706Thr	305915.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305915	MENTAL RETARDATION, X-LINKED 94	OMIM	480	pfam00497	NULL
2892	163659856	Disease	p.Met706Thr	305915.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305915	MENTAL RETARDATION, X-LINKED 94	OMIM	61	smart00079	NULL
8266	136662	Disease	p.Asn126Asp	305900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD A+	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Asn126Asp	305900.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD A-||G6PD MATERA, G6PD BETICA, G6PD CASTILLA, G6PD DISTRITO FEDERAL, G6PD TEPIC	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Ala335Thr	305900.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD CHATHAM	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Glu156Lys	305900.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ILESHA	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Gly163Ser	305900.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD MAHIDOL	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Ser188Phe	305900.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD MEDITERRANEAN||G6PD SASSARI, G6PD CAGLIARI	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Asp58Asn	305900.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD METAPONTO	OMIM	66	pfam00240	7657667,NP_055050
8266	136662	Disease	p.Asp58Asn	305900.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD METAPONTO	OMIM	124	cd00196	7657667,NP_055050
8266	136662	Disease	p.Asp58Asn	305900.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD METAPONTO	OMIM	84	cd01769	7657667,NP_055050
8266	136662	Disease	p.Asp58Asn	305900.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD METAPONTO	OMIM	58	cd01807	7657667,NP_055050
8266	136662	Disease	p.Asp58Asn	305900.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD METAPONTO	OMIM	67	pfam11976	7657667,NP_055050
8266	136662	Disease	p.Asp58Asn	305900.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD METAPONTO	OMIM	62	cd01809	7657667,NP_055050
8266	136662	Disease	p.Asp58Asn	305900.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD METAPONTO	OMIM	58	cd01808	7657667,NP_055050
8266	136662	Disease	p.Asp58Asn	305900.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD METAPONTO	OMIM	63	cd01812	7657667,NP_055050
8266	136662	Disease	p.Asp58Asn	305900.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD METAPONTO	OMIM	62	cd01805	7657667,NP_055050
8266	136662	Disease	p.Asp58Asn	305900.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD METAPONTO	OMIM	58	cd01806	7657667,NP_055050
8266	136662	Disease	p.Asp58Asn	305900.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD METAPONTO	OMIM	58	cd01803	7657667,NP_055050
8266	136662	Disease	p.Asp58Asn	305900.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD METAPONTO	OMIM	62	cd01792	7657667,NP_055050
8266	136662	Disease	p.Asp58Asn	305900.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD METAPONTO	OMIM	88	smart00213	7657667,NP_055050
8266	136662	Disease	p.Asp58Asn	305900.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD METAPONTO	OMIM	60	cd01804	7657667,NP_055050
8266	136662	Disease	p.Asp58Asn	305900.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD METAPONTO	OMIM	60	cd01796	7657667,NP_055050
8266	136662	Disease	p.Arg393His	305900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD PORTICI	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Gly447Arg	305900.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD SANTIAGO DE CUBA	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Asp282His	305900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD SEATTLE-LIKE||G6PD MODENA	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Phe216Leu	305900.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD HARILAOU	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Lys386Glu	305900.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD IOWA||G6PD IOWA CITY, G6PD SPRINGFIELD, G6PD WALTER REED	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Arg387His	305900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD BEVERLY HILLS	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Cys385Arg	305900.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD TOMAH	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Gly410Cys	305900.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD RIVERSIDE	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Arg285His	305900.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD MONTALBANO	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Arg454His	305900.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ANDALUS	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Arg459Leu	305900.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD CANTON||G6PD GIFU, G6PD AGRIGENTO, G6PD TAIWAN-HAKKA	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Glu398Lys	305900.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD PUERTO LIMON	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Asn126Asp	305900.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD SANTAMARIA	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Val213Leu	305900.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD GASTONIA||G6PD MARION, G6PD MINNESOTA	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Arg393His	305900.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD NASHVILLE||G6PD ANAHEIM	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Val291Met	305900.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD VIANGCHAN||G6PD JAMMU	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Arg227Leu	305900.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD A-	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Leu323Pro	305900.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD A-	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Arg463His	305900.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD KAIPING||G6PD ANANT, G6PD DHON, G6PD PETRICH-LIKE, G6PD SAPPORO-LIKE	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Asn363Lys	305900.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD LOMA LINDA	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Arg198Cys	305900.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD COIMBRA	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Arg198Cys	305900.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Asn165Asp	305900.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD TAIWAN-HAKKA 2	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Arg198Pro	305900.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD SANTIAGO||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Arg227Gln	305900.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD MEXICO CITY	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Pro353Ser	305900.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD IERAPETRA	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Arg387Cys	305900.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD GUADALAJARA||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Val394Leu	305900.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ALHAMBRA||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Gly410Asp	305900.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD JAPAN||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Arg439Pro	305900.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD PAWNEE||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Glu317Lys	305900.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD KERALA-KALYAN||G6PD KERALA, G6PD KALYAN	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Ile48Thr	305900.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD AURES	OMIM	54	pfam00240	7657667,NP_055050
8266	136662	Disease	p.Ile48Thr	305900.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD AURES	OMIM	89	cd00196	7657667,NP_055050
8266	136662	Disease	p.Ile48Thr	305900.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD AURES	OMIM	74	cd01769	7657667,NP_055050
8266	136662	Disease	p.Ile48Thr	305900.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD AURES	OMIM	48	cd01807	7657667,NP_055050
8266	136662	Disease	p.Ile48Thr	305900.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD AURES	OMIM	57	pfam11976	7657667,NP_055050
8266	136662	Disease	p.Ile48Thr	305900.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD AURES	OMIM	52	cd01809	7657667,NP_055050
8266	136662	Disease	p.Ile48Thr	305900.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD AURES	OMIM	48	cd01808	7657667,NP_055050
8266	136662	Disease	p.Ile48Thr	305900.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD AURES	OMIM	53	cd01812	7657667,NP_055050
8266	136662	Disease	p.Ile48Thr	305900.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD AURES	OMIM	52	cd01805	7657667,NP_055050
8266	136662	Disease	p.Ile48Thr	305900.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD AURES	OMIM	48	cd01806	7657667,NP_055050
8266	136662	Disease	p.Ile48Thr	305900.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD AURES	OMIM	48	cd01803	7657667,NP_055050
8266	136662	Disease	p.Ile48Thr	305900.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD AURES	OMIM	52	cd01792	7657667,NP_055050
8266	136662	Disease	p.Ile48Thr	305900.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD AURES	OMIM	67	smart00213	7657667,NP_055050
8266	136662	Disease	p.Ile48Thr	305900.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD AURES	OMIM	51	cd01804	7657667,NP_055050
8266	136662	Disease	p.Ile48Thr	305900.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD AURES	OMIM	50	cd01796	7657667,NP_055050
8266	136662	Disease	p.His32Arg	305900.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD GAOHE	OMIM	35	pfam00240	7657667,NP_055050
8266	136662	Disease	p.His32Arg	305900.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD GAOHE	OMIM	51	cd00196	7657667,NP_055050
8266	136662	Disease	p.His32Arg	305900.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD GAOHE	OMIM	41	cd01769	7657667,NP_055050
8266	136662	Disease	p.His32Arg	305900.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD GAOHE	OMIM	32	cd01807	7657667,NP_055050
8266	136662	Disease	p.His32Arg	305900.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD GAOHE	OMIM	36	pfam11976	7657667,NP_055050
8266	136662	Disease	p.His32Arg	305900.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD GAOHE	OMIM	34	cd01809	7657667,NP_055050
8266	136662	Disease	p.His32Arg	305900.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD GAOHE	OMIM	31	cd01808	7657667,NP_055050
8266	136662	Disease	p.His32Arg	305900.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD GAOHE	OMIM	37	cd01812	7657667,NP_055050
8266	136662	Disease	p.His32Arg	305900.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD GAOHE	OMIM	33	cd01805	7657667,NP_055050
8266	136662	Disease	p.His32Arg	305900.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD GAOHE	OMIM	32	cd01806	7657667,NP_055050
8266	136662	Disease	p.His32Arg	305900.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD GAOHE	OMIM	32	cd01803	7657667,NP_055050
8266	136662	Disease	p.His32Arg	305900.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD GAOHE	OMIM	34	cd01792	7657667,NP_055050
8266	136662	Disease	p.His32Arg	305900.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD GAOHE	OMIM	46	smart00213	7657667,NP_055050
8266	136662	Disease	p.His32Arg	305900.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD GAOHE	OMIM	35	cd01804	7657667,NP_055050
8266	136662	Disease	p.His32Arg	305900.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD GAOHE	OMIM	34	cd01796	7657667,NP_055050
8266	136662	Disease	p.Gly131Val	305900.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD QUING YUAN	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Leu342Phe	305900.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD MAHIDOL-LIKE	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Ala44Gly	305900.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ORISSA	OMIM	50	pfam00240	7657667,NP_055050
8266	136662	Disease	p.Ala44Gly	305900.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ORISSA	OMIM	85	cd00196	7657667,NP_055050
8266	136662	Disease	p.Ala44Gly	305900.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ORISSA	OMIM	65	cd01769	7657667,NP_055050
8266	136662	Disease	p.Ala44Gly	305900.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ORISSA	OMIM	44	cd01807	7657667,NP_055050
8266	136662	Disease	p.Ala44Gly	305900.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ORISSA	OMIM	53	pfam11976	7657667,NP_055050
8266	136662	Disease	p.Ala44Gly	305900.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ORISSA	OMIM	48	cd01809	7657667,NP_055050
8266	136662	Disease	p.Ala44Gly	305900.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ORISSA	OMIM	44	cd01808	7657667,NP_055050
8266	136662	Disease	p.Ala44Gly	305900.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ORISSA	OMIM	49	cd01812	7657667,NP_055050
8266	136662	Disease	p.Ala44Gly	305900.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ORISSA	OMIM	48	cd01805	7657667,NP_055050
8266	136662	Disease	p.Ala44Gly	305900.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ORISSA	OMIM	44	cd01806	7657667,NP_055050
8266	136662	Disease	p.Ala44Gly	305900.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ORISSA	OMIM	44	cd01803	7657667,NP_055050
8266	136662	Disease	p.Ala44Gly	305900.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ORISSA	OMIM	48	cd01792	7657667,NP_055050
8266	136662	Disease	p.Ala44Gly	305900.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ORISSA	OMIM	63	smart00213	7657667,NP_055050
8266	136662	Disease	p.Ala44Gly	305900.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ORISSA	OMIM	47	cd01804	7657667,NP_055050
8266	136662	Disease	p.Ala44Gly	305900.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ORISSA	OMIM	46	cd01796	7657667,NP_055050
8266	136662	Disease	p.Phe173Leu	305900.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD NANKANG	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Asp181Val	305900.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD MALAGA	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Pro467Arg	305900.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD NEAPOLIS	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Ala361Val	305900.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD SERRES	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Cys269Tyr	305900.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD AVEIRO||ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Val68Met	305900.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ASAHI	OMIM	78	pfam00240	7657667,NP_055050
8266	136662	Disease	p.Val68Met	305900.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ASAHI	OMIM	134	cd00196	7657667,NP_055050
8266	136662	Disease	p.Val68Met	305900.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ASAHI	OMIM	119	cd01769	7657667,NP_055050
8266	136662	Disease	p.Val68Met	305900.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ASAHI	OMIM	68	cd01807	7657667,NP_055050
8266	136662	Disease	p.Val68Met	305900.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ASAHI	OMIM	79	pfam11976	7657667,NP_055050
8266	136662	Disease	p.Val68Met	305900.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ASAHI	OMIM	72	cd01809	7657667,NP_055050
8266	136662	Disease	p.Val68Met	305900.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ASAHI	OMIM	68	cd01808	7657667,NP_055050
8266	136662	Disease	p.Val68Met	305900.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ASAHI	OMIM	74	cd01812	7657667,NP_055050
8266	136662	Disease	p.Val68Met	305900.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ASAHI	OMIM	72	cd01805	7657667,NP_055050
8266	136662	Disease	p.Val68Met	305900.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ASAHI	OMIM	68	cd01806	7657667,NP_055050
8266	136662	Disease	p.Val68Met	305900.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ASAHI	OMIM	68	cd01803	7657667,NP_055050
8266	136662	Disease	p.Val68Met	305900.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ASAHI	OMIM	72	cd01792	7657667,NP_055050
8266	136662	Disease	p.Val68Met	305900.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ASAHI	OMIM	70	cd01804	7657667,NP_055050
8266	136662	Disease	p.Val68Met	305900.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD ASAHI	OMIM	70	cd01796	7657667,NP_055050
8266	136662	Disease	p.Tyr322His	305900.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD REHOVOT	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Arg459Pro	305900.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD COSENZA	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.Pro481Arg	305900.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD SPLIT	OMIM	No Domain	N/A	7657667,NP_055050
8266	136662	Disease	p.His70Tyr	305900.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD NAMORU	OMIM	80	pfam00240	7657667,NP_055050
8266	136662	Disease	p.His70Tyr	305900.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD NAMORU	OMIM	136	cd00196	7657667,NP_055050
8266	136662	Disease	p.His70Tyr	305900.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD NAMORU	OMIM	121	cd01769	7657667,NP_055050
8266	136662	Disease	p.His70Tyr	305900.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD NAMORU	OMIM	70	cd01807	7657667,NP_055050
8266	136662	Disease	p.His70Tyr	305900.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD NAMORU	OMIM	81	pfam11976	7657667,NP_055050
8266	136662	Disease	p.His70Tyr	305900.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD NAMORU	OMIM	74	cd01809	7657667,NP_055050
8266	136662	Disease	p.His70Tyr	305900.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD NAMORU	OMIM	70	cd01808	7657667,NP_055050
8266	136662	Disease	p.His70Tyr	305900.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD NAMORU	OMIM	76	cd01812	7657667,NP_055050
8266	136662	Disease	p.His70Tyr	305900.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD NAMORU	OMIM	74	cd01805	7657667,NP_055050
8266	136662	Disease	p.His70Tyr	305900.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD NAMORU	OMIM	70	cd01806	7657667,NP_055050
8266	136662	Disease	p.His70Tyr	305900.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD NAMORU	OMIM	70	cd01803	7657667,NP_055050
8266	136662	Disease	p.His70Tyr	305900.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD NAMORU	OMIM	74	cd01792	7657667,NP_055050
8266	136662	Disease	p.His70Tyr	305900.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD NAMORU	OMIM	72	cd01804	7657667,NP_055050
8266	136662	Disease	p.His70Tyr	305900.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD NAMORU	OMIM	72	cd01796	7657667,NP_055050
8266	136662	Disease	p.Arg198His	305900.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	G6PD NILGIRI	OMIM	No Domain	N/A	7657667,NP_055050
79742	193804856	Disease	p.Arg198His	305900.9999	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS, MOLECULAR DEFECT UNKNOWN||G6PD VARIANTS, MOLECULAR DEFECT UNKNOWN	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Arg198His	305900.9999	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305900	GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS, MOLECULAR DEFECT UNKNOWN||G6PD VARIANTS, MOLECULAR DEFECT UNKNOWN	OMIM	No Domain	N/A	193804854,NP_789789
2623	120956	Disease	p.Val205Met	305371.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305371	DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA	OMIM	3	cd00202	4503925,NP_002040
2623	120956	Disease	p.Val205Met	305371.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305371	DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA	OMIM	2	pfam00320	4503925,NP_002040
2623	120956	Disease	p.Val205Met	305371.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305371	DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA	OMIM	7	smart00401	4503925,NP_002040
2623	120956	Disease	p.Asp218Gly	305371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305371	MACROTHROMBOCYTOPENIA, X-LINKED	OMIM	20	cd00202	4503925,NP_002040
2623	120956	Disease	p.Asp218Gly	305371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305371	MACROTHROMBOCYTOPENIA, X-LINKED	OMIM	19	pfam00320	4503925,NP_002040
2623	120956	Disease	p.Asp218Gly	305371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305371	MACROTHROMBOCYTOPENIA, X-LINKED	OMIM	23	smart00401	4503925,NP_002040
2623	120956	Disease	p.Gly208Ser	305371.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305371	MACROTHROMBOCYTOPENIA, X-LINKED	OMIM	8	cd00202	4503925,NP_002040
2623	120956	Disease	p.Gly208Ser	305371.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305371	MACROTHROMBOCYTOPENIA, X-LINKED	OMIM	7	pfam00320	4503925,NP_002040
2623	120956	Disease	p.Gly208Ser	305371.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305371	MACROTHROMBOCYTOPENIA, X-LINKED	OMIM	12	smart00401	4503925,NP_002040
2623	120956	Disease	p.Asp218Tyr	305371.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305371	MACROTHROMBOCYTOPENIA, X-LINKED	OMIM	20	cd00202	4503925,NP_002040
2623	120956	Disease	p.Asp218Tyr	305371.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305371	MACROTHROMBOCYTOPENIA, X-LINKED	OMIM	19	pfam00320	4503925,NP_002040
2623	120956	Disease	p.Asp218Tyr	305371.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305371	MACROTHROMBOCYTOPENIA, X-LINKED	OMIM	23	smart00401	4503925,NP_002040
2623	120956	Disease	p.Arg216Gln	305371.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305371	THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS	OMIM	18	cd00202	4503925,NP_002040
2623	120956	Disease	p.Arg216Gln	305371.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305371	THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS	OMIM	17	pfam00320	4503925,NP_002040
2623	120956	Disease	p.Arg216Gln	305371.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305371	THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS	OMIM	21	smart00401	4503925,NP_002040
2705	117688	Disease	p.Arg142Trp	304040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg142Trp	304040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Pro172Ser	304040.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	30	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Pro172Ser	304040.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	30	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val139Met	304040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val139Met	304040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Trp133Arg	304040.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Trp133Arg	304040.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ile30Asn	304040.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	30	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ile30Asn	304040.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	30	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Leu156Arg	304040.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	12	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Leu156Arg	304040.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	12	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Tyr65Cys	304040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	24	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Tyr65Cys	304040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	65	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Tyr65Cys	304040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	24	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Tyr65Cys	304040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	65	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val13Leu	304040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	13	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val13Leu	304040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	13	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val95Met	304040.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	109	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val95Met	304040.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	109	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Asn205Ser	304040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	70	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Asn205Ser	304040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	70	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ser85Cys	304040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	85	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ser85Cys	304040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	85	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Thr55Ile	304040.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	14	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Thr55Ile	304040.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	55	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Thr55Ile	304040.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	14	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Thr55Ile	304040.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	55	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Phe235Cys	304040.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Phe235Cys	304040.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED	OMIM	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val136Ala	304040.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED||DEJERINE-SOTTAS NEUROPATHY	OMIM	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val136Ala	304040.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=304040	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED||DEJERINE-SOTTAS NEUROPATHY	OMIM	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
1287	15890086	Disease	p.Cys108Ser	303630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	13	pfam01391	NULL
1287	461675	Disease	p.Cys108Ser	303630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	13	pfam01391	4502955,NP_000486
1287	15890086	Disease	p.Gly1143Asp	303630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	10	pfam01391	NULL
1287	461675	Disease	p.Gly1143Asp	303630.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	10	pfam01391	4502955,NP_000486
1287	15890086	Disease	p.Gly325Arg	303630.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	37	pfam01391	NULL
1287	461675	Disease	p.Gly325Arg	303630.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	37	pfam01391	4502955,NP_000486
1287	15890086	Disease	p.Trp1538Ser	303630.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	74	pfam01413	NULL
1287	15890086	Disease	p.Trp1538Ser	303630.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	75	smart00111	NULL
1287	461675	Disease	p.Trp1538Ser	303630.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	80	pfam01413	4502955,NP_000486
1287	461675	Disease	p.Trp1538Ser	303630.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	81	smart00111	4502955,NP_000486
1287	15890086	Disease	p.Gly521Cys	303630.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	31	pfam01391	NULL
1287	461675	Disease	p.Gly521Cys	303630.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	31	pfam01391	4502955,NP_000486
1287	15890086	Disease	p.Gly325Glu	303630.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	37	pfam01391	NULL
1287	461675	Disease	p.Gly325Glu	303630.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	37	pfam01391	4502955,NP_000486
1287	15890086	Disease	p.Gly289Val	303630.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	No Domain	N/A	NULL
1287	461675	Disease	p.Gly289Val	303630.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	No Domain	N/A	4502955,NP_000486
1287	15890086	Disease	p.Gly54Asp	303630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	19	pfam01391	NULL
1287	461675	Disease	p.Gly54Asp	303630.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	19	pfam01391	4502955,NP_000486
1287	15890086	Disease	p.Leu1649Arg	303630.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	75	pfam01413	NULL
1287	15890086	Disease	p.Leu1649Arg	303630.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	76	smart00111	NULL
1287	461675	Disease	p.Leu1649Arg	303630.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	81	pfam01413	4502955,NP_000486
1287	461675	Disease	p.Leu1649Arg	303630.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	82	smart00111	4502955,NP_000486
1287	15890086	Disease	p.Arg1677Gln	303630.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	105	pfam01413	NULL
1287	15890086	Disease	p.Arg1677Gln	303630.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	106	smart00111	NULL
1287	461675	Disease	p.Arg1677Gln	303630.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	111	pfam01413	4502955,NP_000486
1287	461675	Disease	p.Arg1677Gln	303630.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303630	ALPORT SYNDROME, X-LINKED	OMIM	112	smart00111	4502955,NP_000486
212	20141346	Disease	p.Ile471Asn	301300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	447	cd00609	83977442,NP_000023
212	20141346	Disease	p.Ile471Asn	301300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	416	pfam00155	83977442,NP_000023
212	20141346	Disease	p.Ile471Asn	301300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	326	cd06454	83977442,NP_000023
212	20141346	Disease	p.Ile471Asn	301300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	455	COG0520	83977442,NP_000023
212	20141346	Disease	p.Ile471Asn	301300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	342	pfam00266	83977442,NP_000023
212	20141346	Disease	p.Ile471Asn	301300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	455	COG0156	83977442,NP_000023
212	83977444	Disease	p.Ile471Asn	301300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	468	COG0156	NULL
212	83977444	Disease	p.Ile471Asn	301300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	460	cd00609	NULL
212	83977444	Disease	p.Ile471Asn	301300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	481	COG0520	NULL
212	83977444	Disease	p.Ile471Asn	301300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	356	pfam00266	NULL
212	83977444	Disease	p.Ile471Asn	301300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	341	cd06454	NULL
212	83977444	Disease	p.Ile471Asn	301300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	430	pfam00155	NULL
212	83977440	Disease	p.Ile471Asn	301300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	365	cd06454	NULL
212	83977440	Disease	p.Ile471Asn	301300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	493	pfam00155	NULL
212	83977440	Disease	p.Ile471Asn	301300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	518	cd00609	NULL
212	83977440	Disease	p.Ile471Asn	301300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	506	COG0520	NULL
212	83977440	Disease	p.Ile471Asn	301300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	515	COG0156	NULL
212	83977440	Disease	p.Ile471Asn	301300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	408	pfam00266	NULL
212	20141346	Disease	p.Thr388Ser	301300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	319	cd00609	83977442,NP_000023
212	20141346	Disease	p.Thr388Ser	301300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	297	pfam00155	83977442,NP_000023
212	20141346	Disease	p.Thr388Ser	301300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	238	cd06454	83977442,NP_000023
212	20141346	Disease	p.Thr388Ser	301300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	285	COG0520	83977442,NP_000023
212	20141346	Disease	p.Thr388Ser	301300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	219	pfam00266	83977442,NP_000023
212	20141346	Disease	p.Thr388Ser	301300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	242	cd01494	83977442,NP_000023
212	20141346	Disease	p.Thr388Ser	301300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	358	COG0156	83977442,NP_000023
212	83977444	Disease	p.Thr388Ser	301300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	372	COG0156	NULL
212	83977444	Disease	p.Thr388Ser	301300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	336	cd00609	NULL
212	83977444	Disease	p.Thr388Ser	301300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	302	COG0520	NULL
212	83977444	Disease	p.Thr388Ser	301300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	233	pfam00266	NULL
212	83977444	Disease	p.Thr388Ser	301300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	264	cd01494	NULL
212	83977444	Disease	p.Thr388Ser	301300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	252	cd06454	NULL
212	83977444	Disease	p.Thr388Ser	301300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	314	pfam00155	NULL
212	83977440	Disease	p.Thr388Ser	301300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	276	cd06454	NULL
212	83977440	Disease	p.Thr388Ser	301300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	361	pfam00155	NULL
212	83977440	Disease	p.Thr388Ser	301300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	379	cd00609	NULL
212	83977440	Disease	p.Thr388Ser	301300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	358	COG0520	NULL
212	83977440	Disease	p.Thr388Ser	301300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	399	COG0156	NULL
212	83977440	Disease	p.Thr388Ser	301300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	287	pfam00266	NULL
212	20141346	Disease	p.Phe165Leu	301300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	25	COG0156	83977442,NP_000023
212	83977444	Disease	p.Phe165Leu	301300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	44	COG0156	NULL
212	83977444	Disease	p.Phe165Leu	301300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	6	COG0520	NULL
212	83977440	Disease	p.Phe165Leu	301300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	14	cd06454	NULL
212	83977440	Disease	p.Phe165Leu	301300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	14	pfam00155	NULL
212	83977440	Disease	p.Phe165Leu	301300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	12	cd00609	NULL
212	83977440	Disease	p.Phe165Leu	301300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	58	COG0520	NULL
212	83977440	Disease	p.Phe165Leu	301300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	96	COG0156	NULL
212	20141346	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	150	cd00609	83977442,NP_000023
212	20141346	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	142	pfam00155	83977442,NP_000023
212	20141346	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	110	cd06454	83977442,NP_000023
212	20141346	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	171	COG0520	83977442,NP_000023
212	20141346	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	115	pfam00266	83977442,NP_000023
212	20141346	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	95	cd01494	83977442,NP_000023
212	20141346	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	227	COG0156	83977442,NP_000023
212	83977444	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	241	COG0156	NULL
212	83977444	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	174	cd00609	NULL
212	83977444	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	189	COG0520	NULL
212	83977444	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	131	pfam00266	NULL
212	83977444	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	121	cd01494	NULL
212	83977444	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	123	cd06454	NULL
212	83977444	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	173	pfam00155	NULL
212	83977440	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	156	cd06454	NULL
212	83977440	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	206	pfam00155	NULL
212	83977440	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	225	cd00609	NULL
212	83977440	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	221	COG0520	NULL
212	83977440	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	274	COG0156	NULL
212	83977440	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	164	pfam00266	NULL
212	83977440	Disease	p.Gly291Ser	301300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	169	cd01494	NULL
212	20141346	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	169	cd00609	83977442,NP_000023
212	20141346	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	151	pfam00155	83977442,NP_000023
212	20141346	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	118	cd06454	83977442,NP_000023
212	20141346	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	184	COG0520	83977442,NP_000023
212	20141346	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	123	pfam00266	83977442,NP_000023
212	20141346	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	116	cd01494	83977442,NP_000023
212	20141346	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	236	COG0156	83977442,NP_000023
212	83977444	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	253	COG0156	NULL
212	83977444	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	209	cd00609	NULL
212	83977444	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	201	COG0520	NULL
212	83977444	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	148	pfam00266	NULL
212	83977444	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	153	cd01494	NULL
212	83977444	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	131	cd06454	NULL
212	83977444	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	181	pfam00155	NULL
212	83977440	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	164	cd06454	NULL
212	83977440	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	214	pfam00155	NULL
212	83977440	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	237	cd00609	NULL
212	83977440	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	229	COG0520	NULL
212	83977440	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	282	COG0156	NULL
212	83977440	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	172	pfam00266	NULL
212	83977440	Disease	p.Lys299Gln	301300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	177	cd01494	NULL
212	20141346	Disease	p.Ala172Thr	301300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	32	COG0156	83977442,NP_000023
212	83977444	Disease	p.Ala172Thr	301300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	59	COG0156	NULL
212	83977444	Disease	p.Ala172Thr	301300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	25	COG0520	NULL
212	83977440	Disease	p.Ala172Thr	301300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	23	cd06454	NULL
212	83977440	Disease	p.Ala172Thr	301300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	22	pfam00155	NULL
212	83977440	Disease	p.Ala172Thr	301300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	19	cd00609	NULL
212	83977440	Disease	p.Ala172Thr	301300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	67	COG0520	NULL
212	83977440	Disease	p.Ala172Thr	301300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	104	COG0156	NULL
212	83977440	Disease	p.Ala172Thr	301300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET	OMIM	16	pfam00266	NULL
212	20141346	Disease	p.Asp190Val	301300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY	OMIM	2	pfam00155	83977442,NP_000023
212	20141346	Disease	p.Asp190Val	301300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY	OMIM	2	cd06454	83977442,NP_000023
212	20141346	Disease	p.Asp190Val	301300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY	OMIM	30	COG0520	83977442,NP_000023
212	20141346	Disease	p.Asp190Val	301300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY	OMIM	78	COG0156	83977442,NP_000023
212	83977444	Disease	p.Asp190Val	301300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY	OMIM	97	COG0156	NULL
212	83977444	Disease	p.Asp190Val	301300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY	OMIM	13	cd00609	NULL
212	83977444	Disease	p.Asp190Val	301300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY	OMIM	59	COG0520	NULL
212	83977444	Disease	p.Asp190Val	301300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY	OMIM	15	cd06454	NULL
212	83977444	Disease	p.Asp190Val	301300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY	OMIM	15	pfam00155	NULL
212	83977440	Disease	p.Asp190Val	301300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY	OMIM	41	cd06454	NULL
212	83977440	Disease	p.Asp190Val	301300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY	OMIM	47	pfam00155	NULL
212	83977440	Disease	p.Asp190Val	301300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY	OMIM	63	cd00609	NULL
212	83977440	Disease	p.Asp190Val	301300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY	OMIM	79_G	COG0520	NULL
212	83977440	Disease	p.Asp190Val	301300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY	OMIM	152	COG0156	NULL
212	83977440	Disease	p.Asp190Val	301300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY	OMIM	37	pfam00266	NULL
212	20141346	Disease	p.Arg411Cys	301300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	361	cd00609	83977442,NP_000023
212	20141346	Disease	p.Arg411Cys	301300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	344	pfam00155	83977442,NP_000023
212	20141346	Disease	p.Arg411Cys	301300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	262	cd06454	83977442,NP_000023
212	20141346	Disease	p.Arg411Cys	301300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	330	COG0520	83977442,NP_000023
212	20141346	Disease	p.Arg411Cys	301300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	259	pfam00266	83977442,NP_000023
212	20141346	Disease	p.Arg411Cys	301300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	382	COG0156	83977442,NP_000023
212	83977444	Disease	p.Arg411Cys	301300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	398	COG0156	NULL
212	83977444	Disease	p.Arg411Cys	301300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	378	cd00609	NULL
212	83977444	Disease	p.Arg411Cys	301300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	357	COG0520	NULL
212	83977444	Disease	p.Arg411Cys	301300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	286	pfam00266	NULL
212	83977444	Disease	p.Arg411Cys	301300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	275	cd06454	NULL
212	83977444	Disease	p.Arg411Cys	301300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	360	pfam00155	NULL
212	83977440	Disease	p.Arg411Cys	301300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	303	cd06454	NULL
212	83977440	Disease	p.Arg411Cys	301300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	388	pfam00155	NULL
212	83977440	Disease	p.Arg411Cys	301300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	410	cd00609	NULL
212	83977440	Disease	p.Arg411Cys	301300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	425	COG0520	NULL
212	83977440	Disease	p.Arg411Cys	301300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	426	COG0156	NULL
212	83977440	Disease	p.Arg411Cys	301300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	309	pfam00266	NULL
212	20141346	Disease	p.Ser568Gly	301300.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	No Domain	N/A	83977442,NP_000023
212	83977444	Disease	p.Ser568Gly	301300.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	No Domain	N/A	NULL
212	83977440	Disease	p.Ser568Gly	301300.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	No Domain	N/A	NULL
212	20141346	Disease	p.Cys395Tyr	301300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	327	cd00609	83977442,NP_000023
212	20141346	Disease	p.Cys395Tyr	301300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	305	pfam00155	83977442,NP_000023
212	20141346	Disease	p.Cys395Tyr	301300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	245	cd06454	83977442,NP_000023
212	20141346	Disease	p.Cys395Tyr	301300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	293	COG0520	83977442,NP_000023
212	20141346	Disease	p.Cys395Tyr	301300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	227	pfam00266	83977442,NP_000023
212	20141346	Disease	p.Cys395Tyr	301300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	251	cd01494	83977442,NP_000023
212	20141346	Disease	p.Cys395Tyr	301300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	366	COG0156	83977442,NP_000023
212	83977444	Disease	p.Cys395Tyr	301300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	379	COG0156	NULL
212	83977444	Disease	p.Cys395Tyr	301300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	358	cd00609	NULL
212	83977444	Disease	p.Cys395Tyr	301300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	327	COG0520	NULL
212	83977444	Disease	p.Cys395Tyr	301300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	242	pfam00266	NULL
212	83977444	Disease	p.Cys395Tyr	301300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	259	cd06454	NULL
212	83977444	Disease	p.Cys395Tyr	301300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	341	pfam00155	NULL
212	83977440	Disease	p.Cys395Tyr	301300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	283	cd06454	NULL
212	83977440	Disease	p.Cys395Tyr	301300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	368	pfam00155	NULL
212	83977440	Disease	p.Cys395Tyr	301300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	386	cd00609	NULL
212	83977440	Disease	p.Cys395Tyr	301300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	371	COG0520	NULL
212	83977440	Disease	p.Cys395Tyr	301300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	406	COG0156	NULL
212	83977440	Disease	p.Cys395Tyr	301300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	293_G	pfam00266	NULL
212	20141346	Disease	p.Asp159Tyr	301300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	19	COG0156	83977442,NP_000023
212	83977444	Disease	p.Asp159Tyr	301300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	32	COG0156	NULL
212	83977440	Disease	p.Asp159Tyr	301300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	8	cd06454	NULL
212	83977440	Disease	p.Asp159Tyr	301300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	8	pfam00155	NULL
212	83977440	Disease	p.Asp159Tyr	301300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	6	cd00609	NULL
212	83977440	Disease	p.Asp159Tyr	301300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	53_G	COG0520	NULL
212	83977440	Disease	p.Asp159Tyr	301300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	84	COG0156	NULL
212	20141346	Disease	p.Asp159Asn	301300.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	19	COG0156	83977442,NP_000023
212	83977444	Disease	p.Asp159Asn	301300.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	32	COG0156	NULL
212	83977440	Disease	p.Asp159Asn	301300.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	8	cd06454	NULL
212	83977440	Disease	p.Asp159Asn	301300.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	8	pfam00155	NULL
212	83977440	Disease	p.Asp159Asn	301300.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	6	cd00609	NULL
212	83977440	Disease	p.Asp159Asn	301300.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	53_G	COG0520	NULL
212	83977440	Disease	p.Asp159Asn	301300.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	84	COG0156	NULL
212	20141346	Disease	p.His524Asp	301300.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	554	cd00609	83977442,NP_000023
212	20141346	Disease	p.His524Asp	301300.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	514	pfam00155	83977442,NP_000023
212	20141346	Disease	p.His524Asp	301300.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	381	cd06454	83977442,NP_000023
212	20141346	Disease	p.His524Asp	301300.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	564	COG0520	83977442,NP_000023
212	20141346	Disease	p.His524Asp	301300.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	535	COG0156	83977442,NP_000023
212	83977444	Disease	p.His524Asp	301300.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	549	COG0156	NULL
212	83977444	Disease	p.His524Asp	301300.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	567	cd00609	NULL
212	83977444	Disease	p.His524Asp	301300.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	577	COG0520	NULL
212	83977444	Disease	p.His524Asp	301300.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	394	cd06454	NULL
212	83977440	Disease	p.His524Asp	301300.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	No Domain	N/A	NULL
212	20141346	Disease	p.Tyr199His	301300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	9	cd00609	83977442,NP_000023
212	20141346	Disease	p.Tyr199His	301300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	11	pfam00155	83977442,NP_000023
212	20141346	Disease	p.Tyr199His	301300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	11	cd06454	83977442,NP_000023
212	20141346	Disease	p.Tyr199His	301300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	55	COG0520	83977442,NP_000023
212	20141346	Disease	p.Tyr199His	301300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	93	COG0156	83977442,NP_000023
212	83977444	Disease	p.Tyr199His	301300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	107	COG0156	NULL
212	83977444	Disease	p.Tyr199His	301300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	22	cd00609	NULL
212	83977444	Disease	p.Tyr199His	301300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	70	COG0520	NULL
212	83977444	Disease	p.Tyr199His	301300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	19	pfam00266	NULL
212	83977444	Disease	p.Tyr199His	301300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	26	cd06454	NULL
212	83977444	Disease	p.Tyr199His	301300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	25	pfam00155	NULL
212	83977440	Disease	p.Tyr199His	301300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	55	cd06454	NULL
212	83977440	Disease	p.Tyr199His	301300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	56	pfam00155	NULL
212	83977440	Disease	p.Tyr199His	301300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	72	cd00609	NULL
212	83977440	Disease	p.Tyr199His	301300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	89	COG0520	NULL
212	83977440	Disease	p.Tyr199His	301300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	161	COG0156	NULL
212	83977440	Disease	p.Tyr199His	301300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	47	pfam00266	NULL
212	83977440	Disease	p.Tyr199His	301300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	2	cd01494	NULL
212	20141346	Disease	p.Arg452Cys	301300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	414	cd00609	83977442,NP_000023
212	20141346	Disease	p.Arg452Cys	301300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	392	pfam00155	83977442,NP_000023
212	20141346	Disease	p.Arg452Cys	301300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	307	cd06454	83977442,NP_000023
212	20141346	Disease	p.Arg452Cys	301300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	429	COG0520	83977442,NP_000023
212	20141346	Disease	p.Arg452Cys	301300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	313	pfam00266	83977442,NP_000023
212	20141346	Disease	p.Arg452Cys	301300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	430	COG0156	83977442,NP_000023
212	83977444	Disease	p.Arg452Cys	301300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	447	COG0156	NULL
212	83977444	Disease	p.Arg452Cys	301300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	427	cd00609	NULL
212	83977444	Disease	p.Arg452Cys	301300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	442	COG0520	NULL
212	83977444	Disease	p.Arg452Cys	301300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	327	pfam00266	NULL
212	83977444	Disease	p.Arg452Cys	301300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	320	cd06454	NULL
212	83977444	Disease	p.Arg452Cys	301300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	410	pfam00155	NULL
212	83977440	Disease	p.Arg452Cys	301300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	346	cd06454	NULL
212	83977440	Disease	p.Arg452Cys	301300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	449	pfam00155	NULL
212	83977440	Disease	p.Arg452Cys	301300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	493	cd00609	NULL
212	83977440	Disease	p.Arg452Cys	301300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	486	COG0520	NULL
212	83977440	Disease	p.Arg452Cys	301300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	496	COG0156	NULL
212	83977440	Disease	p.Arg452Cys	301300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301300	ANEMIA, HEREDITARY SIDEROBLASTIC	OMIM	363	pfam00266	NULL
3423	5360208	Disease	p.Ser333Leu	300823.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	687	COG3119	NULL
3423	5360208	Disease	p.Ser333Leu	300823.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	478	pfam00884	NULL
3423	262118210	Disease	p.Ser333Leu	300823.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	565	COG3119	NULL
3423	124174	Disease	p.Ser333Leu	300823.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	403	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ser333Leu	300823.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	478	pfam00884	4557659,NP_000193
3423	5360208	Disease	p.Trp502Ser	300823.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	No Domain	N/A	NULL
3423	262118210	Disease	p.Trp502Ser	300823.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	No Domain	N/A	NULL
3423	124174	Disease	p.Trp502Ser	300823.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	No Domain	N/A	4557659,NP_000193
3423	5360208	Disease	p.Pro160Arg	300823.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	224	COG3119	NULL
3423	5360208	Disease	p.Pro160Arg	300823.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	201	pfam00884	NULL
3423	262118210	Disease	p.Pro160Arg	300823.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	376	pfam00884	NULL
3423	262118210	Disease	p.Pro160Arg	300823.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	294	COG3119	NULL
3423	124174	Disease	p.Pro160Arg	300823.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	207	COG3119	4557659,NP_000193
3423	124174	Disease	p.Pro160Arg	300823.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	201	pfam00884	4557659,NP_000193
3423	5360208	Disease	p.Cys422Gly	300823.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	No Domain	N/A	NULL
3423	262118210	Disease	p.Cys422Gly	300823.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	No Domain	N/A	NULL
3423	124174	Disease	p.Cys422Gly	300823.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	564	COG3119	4557659,NP_000193
3423	5360208	Disease	p.Lys135Arg	300823.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	158	COG3119	NULL
3423	5360208	Disease	p.Lys135Arg	300823.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	151	pfam00884	NULL
3423	262118210	Disease	p.Lys135Arg	300823.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	328	pfam00884	NULL
3423	262118210	Disease	p.Lys135Arg	300823.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	274	COG3119	NULL
3423	124174	Disease	p.Lys135Arg	300823.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	158	COG3119	4557659,NP_000193
3423	124174	Disease	p.Lys135Arg	300823.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	151	pfam00884	4557659,NP_000193
3423	5360208	Disease	p.Arg468Trp	300823.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II, MILD FORM	OMIM	No Domain	N/A	NULL
3423	262118210	Disease	p.Arg468Trp	300823.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II, MILD FORM	OMIM	No Domain	N/A	NULL
3423	124174	Disease	p.Arg468Trp	300823.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II, MILD FORM	OMIM	635	COG3119	4557659,NP_000193
3423	5360208	Disease	p.Arg468Gln	300823.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM	OMIM	No Domain	N/A	NULL
3423	262118210	Disease	p.Arg468Gln	300823.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM	OMIM	No Domain	N/A	NULL
3423	124174	Disease	p.Arg468Gln	300823.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM	OMIM	635	COG3119	4557659,NP_000193
3423	5360208	Disease	p.Arg468Leu	300823.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM	OMIM	No Domain	N/A	NULL
3423	262118210	Disease	p.Arg468Leu	300823.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM	OMIM	No Domain	N/A	NULL
3423	124174	Disease	p.Arg468Leu	300823.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM	OMIM	635	COG3119	4557659,NP_000193
3423	5360208	Disease	p.Met488Ile	300823.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	No Domain	N/A	NULL
3423	262118210	Disease	p.Met488Ile	300823.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	No Domain	N/A	NULL
3423	124174	Disease	p.Met488Ile	300823.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300823	MUCOPOLYSACCHARIDOSIS TYPE II	OMIM	685	COG3119	4557659,NP_000193
5956	129219	Disease	p.Ser180Ala	300822.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300822	RED CONE POLYMORPHISM	OMIM	124	pfam00001	9910526,NP_064445
5956	129219	Disease	p.Ser180Ala	300822.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300822	RED CONE POLYMORPHISM	OMIM	177	pfam10324	9910526,NP_064445
27297	227495694	Disease	p.Gly338Glu	300822.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300822	COLORBLINDNESS, PROTAN	OMIM	No Domain	N/A	NULL
27297	100913026	Disease	p.Gly338Glu	300822.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300822	COLORBLINDNESS, PROTAN	OMIM	No Domain	N/A	NULL
27297	100913028	Disease	p.Gly338Glu	300822.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300822	COLORBLINDNESS, PROTAN	OMIM	No Domain	N/A	NULL
27297	20532033	Disease	p.Gly338Glu	300822.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300822	COLORBLINDNESS, PROTAN	OMIM	No Domain	N/A	7656977,NP_055293
728458	129215	Disease	p.Cys203Arg	300821.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300821	DEUTERANOMALY||COLORBLINDNESS, DEUTAN	OMIM	No Domain	N/A	114687592,NP_001041646|4503965,NP_000504
728458	129215	Disease	p.Asn94Lys	300821.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300821	COLORBLINDNESS, DEUTAN	OMIM	No Domain	N/A	114687592,NP_001041646|4503965,NP_000504
728458	129215	Disease	p.Arg330Gln	300821.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300821	COLORBLINDNESS, DEUTAN	OMIM	No Domain	N/A	114687592,NP_001041646|4503965,NP_000504
728458	129215	Disease	p.Trp177Arg	300821.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300821	CONE DYSTROPHY 5, X-LINKED	OMIM	No Domain	N/A	114687592,NP_001041646|4503965,NP_000504
4935	3219999	Disease	p.Trp133Arg	300808.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300808	ALBINISM, OCULAR, TYPE I	OMIM	133	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Ser152Asn	300808.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300808	ALBINISM, OCULAR, TYPE I	OMIM	152	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Thr232Lys	300808.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300808	ALBINISM, OCULAR, TYPE I	OMIM	232	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Trp133Arg	300808.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300808	ALBINISM, OCULAR, TYPE I	OMIM	133	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Gly35Asp	300808.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300808	ALBINISM, OCULAR, TYPE I	OMIM	35	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Ser89Phe	300808.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300808	NYSTAGMUS, 6, CONGENITAL, X-LINKED	OMIM	89	pfam02101	270265839,NP_000264
5256	1170685	Disease	p.Pro1205Leu	300798.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300798	GLYCOGEN STORAGE DISEASE, TYPE IXa1	OMIM	No Domain	N/A	4505781,NP_000283
5256	1170685	Disease	p.Asp299Gly	300798.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300798	GLYCOGEN STORAGE DISEASE, TYPE IXa1	OMIM	329	pfam00723	4505781,NP_000283
5256	1170685	Disease	p.Arg186His	300798.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300798	GLYCOGEN STORAGE DISEASE, TYPE IXa2	OMIM	214	pfam00723	4505781,NP_000283
5256	1170685	Disease	p.His132Pro	300798.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300798	GLYCOGEN STORAGE DISEASE, TYPE IXa2	OMIM	142	pfam00723	4505781,NP_000283
5256	1170685	Disease	p.His132Tyr	300798.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300798	GLYCOGEN STORAGE DISEASE, TYPE IXa2	OMIM	142	pfam00723	4505781,NP_000283
5256	1170685	Disease	p.Thr1114Ile	300798.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300798	GLYCOGEN STORAGE DISEASE, TYPE IXa2	OMIM	No Domain	N/A	4505781,NP_000283
5256	1170685	Disease	p.Arg556Cys	300798.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300798	GLYCOGEN STORAGE DISEASE, TYPE IXa2	OMIM	625	pfam00723	4505781,NP_000283
5256	1170685	Disease	p.Lys189Glu	300798.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300798	GLYCOGEN STORAGE DISEASE, TYPE IXa2	OMIM	217	pfam00723	4505781,NP_000283
390916	172048116	Disease	p.Arg118His	300757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300757	RETINITIS PIGMENTOSA 2	OMIM	No Domain	N/A	157739940,NP_001099040
390916	172048116	Disease	p.Arg118Leu	300757.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300757	RETINITIS PIGMENTOSA 2	OMIM	No Domain	N/A	157739940,NP_001099040
412	135006	Disease	p.Trp372Arg	300747.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300747	ICHTHYOSIS, X-LINKED	OMIM	551	pfam00884	53831991,NP_000342
412	135006	Disease	p.Trp372Arg	300747.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300747	ICHTHYOSIS, X-LINKED	OMIM	476	COG3119	53831991,NP_000342
412	135006	Disease	p.Cys446Tyr	300747.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300747	ICHTHYOSIS, X-LINKED	OMIM	716	pfam00884	53831991,NP_000342
412	135006	Disease	p.Cys446Tyr	300747.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300747	ICHTHYOSIS, X-LINKED	OMIM	561	COG3119	53831991,NP_000342
412	135006	Disease	p.Ser341Leu	300747.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300747	ICHTHYOSIS, X-LINKED	OMIM	478	pfam00884	53831991,NP_000342
412	135006	Disease	p.Ser341Leu	300747.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300747	ICHTHYOSIS, X-LINKED	OMIM	403	COG3119	53831991,NP_000342
412	135006	Disease	p.Trp372Pro	300747.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300747	ICHTHYOSIS, X-LINKED	OMIM	551	pfam00884	53831991,NP_000342
412	135006	Disease	p.Trp372Pro	300747.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300747	ICHTHYOSIS, X-LINKED	OMIM	476	COG3119	53831991,NP_000342
412	135006	Disease	p.His444Arg	300747.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300747	ICHTHYOSIS, X-LINKED	OMIM	714	pfam00884	53831991,NP_000342
412	135006	Disease	p.His444Arg	300747.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300747	ICHTHYOSIS, X-LINKED	OMIM	554	COG3119	53831991,NP_000342
2158	67476446	Disease	p.Glu7Asp	300746.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Cys18Arg	300746.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Glu27Lys	300746.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B||FACTOR IX SEATTLE 3	OMIM	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Glu27Val	300746.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Arg29Gln	300746.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	2	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Glu33Asp	300746.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	6	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Asp47Gly	300746.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	23	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Gln50Pro	300746.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	26	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Pro55Ala	300746.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	31	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Pro55Ala	300746.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	4	pfam00594	4503649,NP_000124
2158	67476446	Disease	p.Gly60Ser	300746.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	36	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Gly60Ser	300746.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	9	pfam00594	4503649,NP_000124
2158	67476446	Disease	p.Asp64Gly	300746.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	41	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Asp64Gly	300746.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	13	pfam00594	4503649,NP_000124
2158	67476446	Disease	p.Gly114Ala	300746.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	32	pfam00008	4503649,NP_000124
2158	67476446	Disease	p.Gly114Ala	300746.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	50	cd00054	4503649,NP_000124
2158	67476446	Disease	p.Gly114Ala	300746.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	45	smart00179	4503649,NP_000124
2158	67476446	Disease	p.Gly114Ala	300746.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	47	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Gly114Ala	300746.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	48	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Asn120Tyr	300746.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	38	pfam00008	4503649,NP_000124
2158	67476446	Disease	p.Asn120Tyr	300746.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	61	cd00054	4503649,NP_000124
2158	67476446	Disease	p.Asn120Tyr	300746.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	56	smart00179	4503649,NP_000124
2158	67476446	Disease	p.Asn120Tyr	300746.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	58	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Asn120Tyr	300746.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	59	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Arg145Cys	300746.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	27	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Arg145Cys	300746.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	28	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Arg145His	300746.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	27	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Arg145His	300746.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	28	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Thr148Ala	300746.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	DEEP VENOUS THROMBOSIS, PROTECTION AGAINST	OMIM	30	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Thr148Ala	300746.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	DEEP VENOUS THROMBOSIS, PROTECTION AGAINST	OMIM	31	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Arg180Trp	300746.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Arg180Gln	300746.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B(M)	OMIM	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Val181Phe	300746.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Val182Phe	300746.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Val182Leu	300746.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B(M)||FACTOR IX CARDIFF II	OMIM	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Gln191Leu	300746.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Cys222Trp	300746.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Val227Val	300746.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	FACTOR IX, DNA POLYMORPHISM	OMIM	2	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ala233Thr	300746.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	7	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ala233Thr	300746.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	7	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ala233Thr	300746.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	14	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Arg248Gln	300746.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	40	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Arg248Gln	300746.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	26	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Arg248Gln	300746.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	32	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Asn260Ser	300746.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	53	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Asn260Ser	300746.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	47	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Asn260Ser	300746.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	58	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Pro287Leu	300746.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	98	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Pro287Leu	300746.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	99	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Pro287Leu	300746.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	113	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ala291Pro	300746.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	115	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ala291Pro	300746.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	103	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ala291Pro	300746.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	121	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Thr296Met	300746.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	120	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Thr296Met	300746.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	113	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Thr296Met	300746.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	181	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Val307Ala	300746.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	133	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Val307Ala	300746.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	126	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Val307Ala	300746.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	206	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Gly309Val	300746.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	135	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Gly309Val	300746.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	128	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Gly309Val	300746.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	230	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Gly311Arg	300746.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	137	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Gly311Arg	300746.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	130	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Gly311Arg	300746.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	232	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Arg333Gln	300746.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	180	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Arg333Gln	300746.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	169	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Arg333Gln	300746.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	293	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Cys336Arg	300746.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	183	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Cys336Arg	300746.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	172	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Cys336Arg	300746.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	296	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Met348Val	300746.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	218	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Met348Val	300746.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	186	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Met348Val	300746.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	344	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ser360Leu	300746.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	231	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ser360Leu	300746.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	202	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ser360Leu	300746.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	366	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Gly363Val	300746.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	253	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Gly363Val	300746.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	205	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Gly363Val	300746.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	378	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Gly367Arg	300746.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	257	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Gly367Arg	300746.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	215	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Gly367Arg	300746.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	385	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Pro368Thr	300746.0064	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	258	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Pro368Thr	300746.0064	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	216	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Pro368Thr	300746.0064	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	386	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Phe378Leu	300746.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	268	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Phe378Leu	300746.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	226	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Phe378Leu	300746.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	404	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ala390Glu	300746.0066	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	304	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ala390Glu	300746.0066	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	257	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ala390Glu	300746.0066	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	457	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ala390Val	300746.0067	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	304	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ala390Val	300746.0067	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	257	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ala390Val	300746.0067	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	457	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Gly396Arg	300746.0068	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	310	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Gly396Arg	300746.0068	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	263	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Gly396Arg	300746.0068	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	463	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ile397Thr	300746.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	311	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ile397Thr	300746.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	264	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ile397Thr	300746.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	464	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Trp407Arg	300746.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	327	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Trp407Arg	300746.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	281	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Trp407Arg	300746.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	481	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Val328Phe	300746.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B OXFORD h5	OMIM	167	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Val328Phe	300746.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B OXFORD h5	OMIM	164	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Val328Phe	300746.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B OXFORD h5	OMIM	285	smart00020	4503649,NP_000124
2158	67476446	Disease	p.His257Tyr	300746.0085	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	FACTOR IX POLYMORPHISM	OMIM	49	cd00190	4503649,NP_000124
2158	67476446	Disease	p.His257Tyr	300746.0085	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	FACTOR IX POLYMORPHISM	OMIM	44	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.His257Tyr	300746.0085	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	FACTOR IX POLYMORPHISM	OMIM	55	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Cys350Ser	300746.0086	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	221	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Cys350Ser	300746.0086	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	189	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Cys350Ser	300746.0086	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	348	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Asp64Asn	300746.0087	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	41	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Asp64Asn	300746.0087	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	13	pfam00594	4503649,NP_000124
2158	67476446	Disease	p.Gly311Glu	300746.0091	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	137	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Gly311Glu	300746.0091	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	130	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Gly311Glu	300746.0091	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	232	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ser365Ile	300746.0093	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	255	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ser365Ile	300746.0093	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	213	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ser365Ile	300746.0093	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	381	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ser365Gly	300746.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	255	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ser365Gly	300746.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	213	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ser365Gly	300746.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	381	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Asp364His	300746.0095	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	254	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Asp364His	300746.0095	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	206	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Asp364His	300746.0095	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	380	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Glu245Val	300746.0096	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	23	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Glu245Val	300746.0096	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	23	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Glu245Val	300746.0096	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	26	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Val373Glu	300746.0101	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	263	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Val373Glu	300746.0101	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	221	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Val373Glu	300746.0101	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	399	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ala351Pro	300746.0104	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	222	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ala351Pro	300746.0104	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	190	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ala351Pro	300746.0104	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	349	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ile344Thr	300746.0108	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	214	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ile344Thr	300746.0108	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	182	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ile344Thr	300746.0108	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	340	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Cys206Ser	300746.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Arg338Pro	300746.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	185	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Arg338Pro	300746.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	174	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Arg338Pro	300746.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	HEMOPHILIA B	OMIM	298	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Arg338Leu	300746.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT	OMIM	185	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Arg338Leu	300746.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT	OMIM	174	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Arg338Leu	300746.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300746	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT	OMIM	298	smart00020	4503649,NP_000124
84061	215983058	Disease	p.Val311Gly	300715.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300715	MENTAL RETARDATION, X-LINKED 95	OMIM	124	pfam04756	NULL
10075	73915353	Disease	p.Arg4013Trp	300697.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300697	MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE	OMIM	561	COG5021	61676188,NP_113584
10075	73915353	Disease	p.Arg2981His	300697.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300697	MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE	OMIM	No Domain	N/A	61676188,NP_113584
10075	73915353	Disease	p.Arg4187Cys	300697.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300697	MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE	OMIM	762	COG5021	61676188,NP_113584
10075	73915353	Disease	p.Arg4187Cys	300697.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300697	MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE	OMIM	367	smart00119	61676188,NP_113584
10075	73915353	Disease	p.Arg4187Cys	300697.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300697	MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE	OMIM	370	cd00078	61676188,NP_113584
10075	73915353	Disease	p.Arg4187Cys	300697.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300697	MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE	OMIM	848	pfam00632	61676188,NP_113584
4693	548342	Disease	p.Arg90Pro	300658.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300658	NORRIE DISEASE	OMIM	94	smart00041	4557789,NP_000257
4693	548342	Disease	p.Ser75Cys	300658.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300658	NORRIE DISEASE	OMIM	34	smart00041	4557789,NP_000257
4693	548342	Disease	p.Val60Glu	300658.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300658	NORRIE DISEASE	OMIM	19	smart00041	4557789,NP_000257
4693	548342	Disease	p.Tyr44Cys	300658.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300658	NORRIE DISEASE	OMIM	2	smart00041	4557789,NP_000257
4693	548342	Disease	p.Cys96Tyr	300658.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300658	NORRIE DISEASE	OMIM	100	smart00041	4557789,NP_000257
4693	548342	Disease	p.Leu124Phe	300658.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300658	EXUDATIVE VITREORETINOPATHY, X-LINKED	OMIM	134	smart00041	4557789,NP_000257
4693	548342	Disease	p.Cys69Ser	300658.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300658	NORRIE DISEASE	OMIM	28	smart00041	4557789,NP_000257
4693	548342	Disease	p.Met1Val	300658.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300658	NORRIE DISEASE	OMIM	No Domain	N/A	4557789,NP_000257
4693	548342	Disease	p.Arg121Trp	300658.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300658	EXUDATIVE VITREORETINOPATHY, X-LINKED	OMIM	131	smart00041	4557789,NP_000257
4693	548342	Disease	p.Leu13Arg	300658.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300658	NORRIE DISEASE	OMIM	No Domain	N/A	4557789,NP_000257
4693	548342	Disease	p.Leu61Phe	300658.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300658	NORRIE DISEASE	OMIM	20	smart00041	4557789,NP_000257
4693	548342	Disease	p.His42Arg	300658.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300658	EXUDATIVE VITREORETINOPATHY, X-LINKED	OMIM	No Domain	N/A	4557789,NP_000257
4693	548342	Disease	p.Ala105Thr	300658.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300658	NORRIE DISEASE	OMIM	109	smart00041	4557789,NP_000257
4693	548342	Disease	p.Cys110Gly	300658.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300658	EXUDATIVE VITREORETINOPATHY, X-LINKED	OMIM	114	smart00041	4557789,NP_000257
4693	548342	Disease	p.Arg121Leu	300658.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300658	EXUDATIVE VITREORETINOPATHY, X-LINKED	OMIM	131	smart00041	4557789,NP_000257
4693	548342	Disease	p.Cys96Trp	300658.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300658	NORRIE DISEASE	OMIM	100	smart00041	4557789,NP_000257
4693	548342	Disease	p.Val45Glu	300658.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300658	NORRIE DISEASE	OMIM	3	smart00041	4557789,NP_000257
4693	548342	Disease	p.Ser101Phe	300658.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300658	NORRIE DISEASE	OMIM	105	smart00041	4557789,NP_000257
64840	116242723	Disease	p.Gly60Arg	300651.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300651	FOCAL DERMAL HYPOPLASIA	OMIM	No Domain	N/A	45439335,NP_982301
64840	45439331	Disease	p.Gly60Arg	300651.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300651	FOCAL DERMAL HYPOPLASIA	OMIM	No Domain	N/A	NULL
64840	45439329	Disease	p.Gly60Arg	300651.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300651	FOCAL DERMAL HYPOPLASIA	OMIM	No Domain	N/A	NULL
64840	45439333	Disease	p.Gly60Arg	300651.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300651	FOCAL DERMAL HYPOPLASIA	OMIM	No Domain	N/A	NULL
51114	28202113	Disease	p.Arg148Trp	300646.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300646	MENTAL RETARDATION, X-LINKED, SYNDROMIC, ZDHHC9-RELATED	OMIM	142	COG5273	56682972,NP_057116|56682974,NP_001008223
51114	28202113	Disease	p.Arg148Trp	300646.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300646	MENTAL RETARDATION, X-LINKED, SYNDROMIC, ZDHHC9-RELATED	OMIM	12	pfam01529	56682972,NP_057116|56682974,NP_001008223
51114	28202113	Disease	p.Arg148Trp	300646.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300646	MENTAL RETARDATION, X-LINKED, SYNDROMIC, ZDHHC9-RELATED	OMIM	142	COG5273	56682972,NP_057116|56682974,NP_001008223
51114	28202113	Disease	p.Arg148Trp	300646.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300646	MENTAL RETARDATION, X-LINKED, SYNDROMIC, ZDHHC9-RELATED	OMIM	12	pfam01529	56682972,NP_057116|56682974,NP_001008223
51114	28202113	Disease	p.Pro150Ser	300646.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300646	MENTAL RETARDATION, X-LINKED, SYNDROMIC, ZDHHC9-RELATED	OMIM	144	COG5273	56682972,NP_057116|56682974,NP_001008223
51114	28202113	Disease	p.Pro150Ser	300646.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300646	MENTAL RETARDATION, X-LINKED, SYNDROMIC, ZDHHC9-RELATED	OMIM	14	pfam01529	56682972,NP_057116|56682974,NP_001008223
51114	28202113	Disease	p.Pro150Ser	300646.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300646	MENTAL RETARDATION, X-LINKED, SYNDROMIC, ZDHHC9-RELATED	OMIM	144	COG5273	56682972,NP_057116|56682974,NP_001008223
51114	28202113	Disease	p.Pro150Ser	300646.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300646	MENTAL RETARDATION, X-LINKED, SYNDROMIC, ZDHHC9-RELATED	OMIM	14	pfam01529	56682972,NP_057116|56682974,NP_001008223
9027	145566894	Disease	p.Arg356Trp	300644.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	No Domain	N/A	117190517,NP_003951
9027	145566894	Disease	p.Arg301Gln	300644.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE, CARDIAC VARIANT||FABRY DISEASE	OMIM	No Domain	N/A	117190517,NP_003951
9027	145566894	Disease	p.Met296Val	300644.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE, CARDIAC VARIANT	OMIM	No Domain	N/A	117190517,NP_003951
9027	145566894	Disease	p.Gln279Glu	300644.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE, CARDIAC VARIANT	OMIM	No Domain	N/A	117190517,NP_003951
9027	145566894	Disease	p.Pro40Ser	300644.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	36	COG1670	117190517,NP_003951
9027	145566894	Disease	p.Gly328Arg	300644.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	No Domain	N/A	117190517,NP_003951
9027	145566894	Disease	p.Glu66Gln	300644.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	17	COG0456	117190517,NP_003951
9027	145566894	Disease	p.Glu66Gln	300644.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	73	COG1670	117190517,NP_003951
9027	145566894	Disease	p.Asn34Ser	300644.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	30	COG1670	117190517,NP_003951
9027	145566894	Disease	p.Cys56Gly	300644.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	7	COG0456	117190517,NP_003951
9027	145566894	Disease	p.Cys56Gly	300644.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	62	COG1670	117190517,NP_003951
9027	145566894	Disease	p.Pro146Ser	300644.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	84	pfam00583	117190517,NP_003951
9027	145566894	Disease	p.Pro146Ser	300644.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	179	cd04301	117190517,NP_003951
9027	145566894	Disease	p.Pro146Ser	300644.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	200	COG0456	117190517,NP_003951
9027	145566894	Disease	p.Pro146Ser	300644.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	125	COG0454	117190517,NP_003951
9027	145566894	Disease	p.Pro146Ser	300644.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	185	COG1670	117190517,NP_003951
9027	145566894	Disease	p.Ala156Thr	300644.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	95	pfam00583	117190517,NP_003951
9027	145566894	Disease	p.Ala156Thr	300644.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	193	cd04301	117190517,NP_003951
9027	145566894	Disease	p.Ala156Thr	300644.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	215	COG0456	117190517,NP_003951
9027	145566894	Disease	p.Ala156Thr	300644.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	150	COG0454	117190517,NP_003951
9027	145566894	Disease	p.Ala156Thr	300644.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	195	COG1670	117190517,NP_003951
9027	145566894	Disease	p.Trp162Arg	300644.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	101	pfam00583	117190517,NP_003951
9027	145566894	Disease	p.Trp162Arg	300644.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	199	cd04301	117190517,NP_003951
9027	145566894	Disease	p.Trp162Arg	300644.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	221	COG0456	117190517,NP_003951
9027	145566894	Disease	p.Trp162Arg	300644.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	173	COG0454	117190517,NP_003951
9027	145566894	Disease	p.Trp162Arg	300644.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	201	COG1670	117190517,NP_003951
9027	145566894	Disease	p.Cys202Trp	300644.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	299	COG0456	117190517,NP_003951
9027	145566894	Disease	p.Cys202Trp	300644.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	259	COG0454	117190517,NP_003951
9027	145566894	Disease	p.Cys202Trp	300644.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	250	COG1670	117190517,NP_003951
9027	145566894	Disease	p.Asn215Ser	300644.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	325	COG0456	117190517,NP_003951
9027	145566894	Disease	p.Asn215Ser	300644.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	275	COG1670	117190517,NP_003951
9027	145566894	Disease	p.Arg227Gln	300644.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	No Domain	N/A	117190517,NP_003951
9027	145566894	Disease	p.Asp264Val	300644.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	No Domain	N/A	117190517,NP_003951
9027	145566894	Disease	p.Asp266Val	300644.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	No Domain	N/A	117190517,NP_003951
9027	145566894	Disease	p.Val269Ala	300644.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	No Domain	N/A	117190517,NP_003951
9027	145566894	Disease	p.Ser297Phe	300644.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	No Domain	N/A	117190517,NP_003951
9027	145566894	Disease	p.Asp313Tyr	300644.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	No Domain	N/A	117190517,NP_003951
9027	145566894	Disease	p.Gln327Lys	300644.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	No Domain	N/A	117190517,NP_003951
9027	145566894	Disease	p.Gly328Ala	300644.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	No Domain	N/A	117190517,NP_003951
9027	145566894	Disease	p.Arg342Gln	300644.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	No Domain	N/A	117190517,NP_003951
9027	145566894	Disease	p.Gly361Arg	300644.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	No Domain	N/A	117190517,NP_003951
9027	145566894	Disease	p.Ala143Thr	300644.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	75	pfam00583	117190517,NP_003951
9027	145566894	Disease	p.Ala143Thr	300644.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	176	cd04301	117190517,NP_003951
9027	145566894	Disease	p.Ala143Thr	300644.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	197	COG0456	117190517,NP_003951
9027	145566894	Disease	p.Ala143Thr	300644.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	122	COG0454	117190517,NP_003951
9027	145566894	Disease	p.Ala143Thr	300644.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	177	COG1670	117190517,NP_003951
9027	145566894	Disease	p.Met296Ile	300644.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE, CARDIAC VARIANT	OMIM	No Domain	N/A	117190517,NP_003951
9027	145566894	Disease	p.Ala20Pro	300644.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE, CARDIAC VARIANT	OMIM	No Domain	N/A	117190517,NP_003951
9027	145566894	Disease	p.Ser65Thr	300644.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	16	COG0456	117190517,NP_003951
9027	145566894	Disease	p.Ser65Thr	300644.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	72	COG1670	117190517,NP_003951
9027	145566894	Disease	p.Ala143Pro	300644.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	75	pfam00583	117190517,NP_003951
9027	145566894	Disease	p.Ala143Pro	300644.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	176	cd04301	117190517,NP_003951
9027	145566894	Disease	p.Ala143Pro	300644.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	197	COG0456	117190517,NP_003951
9027	145566894	Disease	p.Ala143Pro	300644.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	122	COG0454	117190517,NP_003951
9027	145566894	Disease	p.Ala143Pro	300644.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	177	COG1670	117190517,NP_003951
9027	145566894	Disease	p.Thr410Ala	300644.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	No Domain	N/A	117190517,NP_003951
9027	145566894	Disease	p.Asn272Ser	300644.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644	FABRY DISEASE	OMIM	No Domain	N/A	117190517,NP_003951
27286	74739594	Disease	p.Asn327Ser	300642.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300642	ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED	OMIM	No Domain	N/A	7657619,NP_055282
27286	74739594	Disease	p.Tyr72Ser	300642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300642	ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED	OMIM	23	cd00033	7657619,NP_055282
27286	74739594	Disease	p.Tyr72Ser	300642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300642	ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED	OMIM	22	smart00032	7657619,NP_055282
27286	74739594	Disease	p.Tyr72Ser	300642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300642	ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED	OMIM	2	pfam00084	7657619,NP_055282
90167	74749680	Disease	p.Val84Val	300628.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300628	NYSTAGMUS 1, CONGENITAL, X-LINKED	OMIM	376	smart00295	34916000,NP_919253
90167	74749680	Disease	p.Gly24Arg	300628.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300628	NYSTAGMUS 1, CONGENITAL, X-LINKED	OMIM	27	pfam09379	34916000,NP_919253
90167	74749680	Disease	p.Gly24Arg	300628.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300628	NYSTAGMUS 1, CONGENITAL, X-LINKED	OMIM	67	smart00295	34916000,NP_919253
90167	74749680	Disease	p.Leu142Arg	300628.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300628	NYSTAGMUS 1, CONGENITAL, X-LINKED	OMIM	604	smart00295	34916000,NP_919253
90167	74749680	Disease	p.Leu142Arg	300628.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300628	NYSTAGMUS 1, CONGENITAL, X-LINKED	OMIM	71	pfam00373	34916000,NP_919253
90167	74749680	Disease	p.Arg229Gly	300628.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300628	NYSTAGMUS 1, CONGENITAL, X-LINKED	OMIM	62	cd00836	34916000,NP_919253
90167	74749680	Disease	p.Arg229Gly	300628.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300628	NYSTAGMUS 1, CONGENITAL, X-LINKED	OMIM	51	pfam09380	34916000,NP_919253
29071	74751849	Disease	p.Asp131Glu	300611.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300611	Tn SYNDROME	OMIM	No Domain	N/A	58532584,NP_001011551|23097329,NP_689905
29071	74751849	Disease	p.Asp131Glu	300611.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300611	Tn SYNDROME	OMIM	No Domain	N/A	58532584,NP_001011551|23097329,NP_689905
29071	74751849	Disease	p.Glu152Lys	300611.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300611	Tn SYNDROME	OMIM	No Domain	N/A	58532584,NP_001011551|23097329,NP_689905
29071	74751849	Disease	p.Glu152Lys	300611.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300611	Tn SYNDROME	OMIM	No Domain	N/A	58532584,NP_001011551|23097329,NP_689905
79983	193794853	Disease	p.Arg329Gln	300603.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300603	PREMATURE OVARIAN FAILURE 2B	OMIM	No Domain	N/A	NULL
57477	118600967	Disease	p.Ser1089Leu	300579.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300579	STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME	OMIM	No Domain	N/A	NULL
23133	73620986	Disease	p.Phe279Ser	300560.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300560	SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME	OMIM	85	smart00558	296531349,NP_001171825
23133	73620986	Disease	p.Phe279Ser	300560.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300560	SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME	OMIM	10	pfam02373	296531349,NP_001171825
23133	296531353	Disease	p.Phe279Ser	300560.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300560	SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME	OMIM	50	pfam02373	NULL
23133	32698700	Disease	p.Phe279Ser	300560.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300560	SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME	OMIM	50	pfam02373	NULL
23133	296531351	Disease	p.Phe279Ser	300560.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300560	SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME	OMIM	50	pfam02373	NULL
10159	66774158	Disease	p.Asp107Asp	300556.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300556	MENTAL RETARDATION, X-LINKED, WITH EPILEPSY	OMIM	No Domain	N/A	15011918,NP_005756
254065	74762368	Disease	p.Lys1596Glu	300553.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300553	MENTAL RETARDATION, X-LINKED 93	OMIM	No Domain	N/A	296011086,NP_694984
4281	22653810	Disease	p.Leu626Pro	300552.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	488	smart00449	148833499,NP_001092094|300797132,NP_001180206|4557753,NP_000372|15451852,NP_150632
4281	22653810	Disease	p.Leu626Pro	300552.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	192	pfam00622	148833499,NP_001092094|300797132,NP_001180206|4557753,NP_000372|15451852,NP_150632
4281	300797175	Disease	p.Leu626Pro	300552.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	No Domain	N/A	NULL
4281	300797215	Disease	p.Leu626Pro	300552.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	No Domain	N/A	NULL
4281	22653810	Disease	p.Leu626Pro	300552.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	488	smart00449	148833499,NP_001092094|300797132,NP_001180206|4557753,NP_000372|15451852,NP_150632
4281	22653810	Disease	p.Leu626Pro	300552.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	192	pfam00622	148833499,NP_001092094|300797132,NP_001180206|4557753,NP_000372|15451852,NP_150632
4281	22653810	Disease	p.Leu626Pro	300552.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	488	smart00449	148833499,NP_001092094|300797132,NP_001180206|4557753,NP_000372|15451852,NP_150632
4281	22653810	Disease	p.Leu626Pro	300552.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	192	pfam00622	148833499,NP_001092094|300797132,NP_001180206|4557753,NP_000372|15451852,NP_150632
4281	300797153	Disease	p.Leu626Pro	300552.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	No Domain	N/A	NULL
4281	300797111	Disease	p.Leu626Pro	300552.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	No Domain	N/A	NULL
4281	22653810	Disease	p.Leu626Pro	300552.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	488	smart00449	148833499,NP_001092094|300797132,NP_001180206|4557753,NP_000372|15451852,NP_150632
4281	22653810	Disease	p.Leu626Pro	300552.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	192	pfam00622	148833499,NP_001092094|300797132,NP_001180206|4557753,NP_000372|15451852,NP_150632
4281	300797197	Disease	p.Leu626Pro	300552.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	No Domain	N/A	NULL
4281	22653810	Disease	p.Leu295Pro	300552.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	101	smart00502	148833499,NP_001092094|300797132,NP_001180206|4557753,NP_000372|15451852,NP_150632
4281	300797175	Disease	p.Leu295Pro	300552.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	101	smart00502	NULL
4281	300797215	Disease	p.Leu295Pro	300552.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	No Domain	N/A	NULL
4281	22653810	Disease	p.Leu295Pro	300552.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	101	smart00502	148833499,NP_001092094|300797132,NP_001180206|4557753,NP_000372|15451852,NP_150632
4281	22653810	Disease	p.Leu295Pro	300552.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	101	smart00502	148833499,NP_001092094|300797132,NP_001180206|4557753,NP_000372|15451852,NP_150632
4281	300797153	Disease	p.Leu295Pro	300552.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	58_G	smart00502	NULL
4281	300797111	Disease	p.Leu295Pro	300552.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	139	smart00502	NULL
4281	22653810	Disease	p.Leu295Pro	300552.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	101	smart00502	148833499,NP_001092094|300797132,NP_001180206|4557753,NP_000372|15451852,NP_150632
4281	300797197	Disease	p.Leu295Pro	300552.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300552	OPITZ SYNDROME, X-LINKED	OMIM	139	smart00502	NULL
5251	2499917	Disease	p.Cys82Tyr	300550.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300550	HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT	OMIM	6	pfam05649	90403592,NP_000435
5251	2499917	Disease	p.Cys82Tyr	300550.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300550	HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT	OMIM	45	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Phe249Ser	300550.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300550	HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT	OMIM	673	pfam05649	90403592,NP_000435
5251	2499917	Disease	p.Phe249Ser	300550.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300550	HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT	OMIM	201	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Leu555Pro	300550.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300550	HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT	OMIM	18	pfam01431	90403592,NP_000435
5251	2499917	Disease	p.Leu555Pro	300550.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300550	HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT	OMIM	505	COG3590	90403592,NP_000435
2245	28202247	Disease	p.Arg610Gln	300546.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300546	FACIOGENITAL DYSPLASIA	OMIM	217	cd00900	24797153,NP_004454
2245	28202247	Disease	p.Arg610Gln	300546.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300546	FACIOGENITAL DYSPLASIA	OMIM	38	cd00821	24797153,NP_004454
2245	28202247	Disease	p.Arg610Gln	300546.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300546	FACIOGENITAL DYSPLASIA	OMIM	19	cd01220	24797153,NP_004454
2245	28202247	Disease	p.Arg610Gln	300546.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300546	FACIOGENITAL DYSPLASIA	OMIM	21	cd01219	24797153,NP_004454
2245	28202247	Disease	p.Arg610Gln	300546.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300546	FACIOGENITAL DYSPLASIA	OMIM	116	smart00233	24797153,NP_004454
2245	28202247	Disease	p.Arg610Gln	300546.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300546	FACIOGENITAL DYSPLASIA	OMIM	44	pfam00169	24797153,NP_004454
2245	28202247	Disease	p.Arg522His	300546.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300546	FACIOGENITAL DYSPLASIA	OMIM	197	cd00160	24797153,NP_004454
2245	28202247	Disease	p.Arg522His	300546.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300546	FACIOGENITAL DYSPLASIA	OMIM	282	smart00325	24797153,NP_004454
2245	28202247	Disease	p.Arg522His	300546.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300546	FACIOGENITAL DYSPLASIA	OMIM	522	pfam00621	24797153,NP_004454
2245	28202247	Disease	p.Pro312Leu	300546.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300546	MENTAL RETARDATION, X-LINKED, SYNDROMIC 16	OMIM	No Domain	N/A	24797153,NP_004454
2245	28202247	Disease	p.Arg408Gln	300546.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300546	FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER	OMIM	36	cd00160	24797153,NP_004454
2245	28202247	Disease	p.Arg408Gln	300546.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300546	FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER	OMIM	46	smart00325	24797153,NP_004454
2245	28202247	Disease	p.Arg408Gln	300546.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300546	FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER	OMIM	75	pfam00621	24797153,NP_004454
2245	28202247	Disease	p.Arg433Leu	300546.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300546	FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER	OMIM	67	cd00160	24797153,NP_004454
2245	28202247	Disease	p.Arg433Leu	300546.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300546	FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER	OMIM	93	smart00325	24797153,NP_004454
2245	28202247	Disease	p.Arg433Leu	300546.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300546	FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER	OMIM	131	pfam00621	24797153,NP_004454
2245	28202247	Disease	p.Met466Val	300546.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300546	FACIOGENITAL DYSPLASIA	OMIM	127	cd00160	24797153,NP_004454
2245	28202247	Disease	p.Met466Val	300546.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300546	FACIOGENITAL DYSPLASIA	OMIM	200	smart00325	24797153,NP_004454
2245	28202247	Disease	p.Met466Val	300546.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300546	FACIOGENITAL DYSPLASIA	OMIM	365	pfam00621	24797153,NP_004454
554	267256	Disease	p.Ala132Asp	300538.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	87	pfam00001	4557345,NP_000045
554	225903385	Disease	p.Ala132Asp	300538.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	87	pfam00001	NULL
554	267256	Disease	p.Gly185Cys	300538.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	142	pfam00001	4557345,NP_000045
554	225903385	Disease	p.Gly185Cys	300538.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	142	pfam00001	NULL
554	267256	Disease	p.Tyr205Cys	300538.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	180	pfam00001	4557345,NP_000045
554	225903385	Disease	p.Tyr205Cys	300538.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	180	pfam00001	NULL
554	267256	Disease	p.Arg203Cys	300538.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	178	pfam00001	4557345,NP_000045
554	225903385	Disease	p.Arg203Cys	300538.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	178	pfam00001	NULL
554	267256	Disease	p.Arg113Trp	300538.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	68	pfam00001	4557345,NP_000045
554	225903385	Disease	p.Arg113Trp	300538.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	68	pfam00001	NULL
554	267256	Disease	p.Tyr280Cys	300538.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	375	pfam00001	4557345,NP_000045
554	225903385	Disease	p.Tyr280Cys	300538.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	375	pfam00001	NULL
554	267256	Disease	p.Asp85Asn	300538.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	28	pfam00001	4557345,NP_000045
554	225903385	Disease	p.Asp85Asn	300538.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	28	pfam00001	NULL
554	267256	Disease	p.Gly201Asp	300538.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	169	pfam00001	4557345,NP_000045
554	225903385	Disease	p.Gly201Asp	300538.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	169	pfam00001	NULL
554	267256	Disease	p.Arg137His	300538.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	92	pfam00001	4557345,NP_000045
554	225903385	Disease	p.Arg137His	300538.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	92	pfam00001	NULL
554	267256	Disease	p.Arg181Cys	300538.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	138	pfam00001	4557345,NP_000045
554	225903385	Disease	p.Arg181Cys	300538.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	138	pfam00001	NULL
554	267256	Disease	p.Phe105Val	300538.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	58	pfam00001	4557345,NP_000045
554	225903385	Disease	p.Phe105Val	300538.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	58	pfam00001	NULL
554	267256	Disease	p.Ile46Lys	300538.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	No Domain	N/A	4557345,NP_000045
554	225903385	Disease	p.Ile46Lys	300538.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	No Domain	N/A	NULL
554	267256	Disease	p.Arg104Cys	300538.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	57	pfam00001	4557345,NP_000045
554	225903385	Disease	p.Arg104Cys	300538.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	OMIM	57	pfam00001	NULL
554	267256	Disease	p.Arg137Cys	300538.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS	OMIM	92	pfam00001	4557345,NP_000045
554	225903385	Disease	p.Arg137Cys	300538.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS	OMIM	92	pfam00001	NULL
554	267256	Disease	p.Arg137Leu	300538.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS	OMIM	92	pfam00001	4557345,NP_000045
554	225903385	Disease	p.Arg137Leu	300538.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300538	NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS	OMIM	92	pfam00001	NULL
4952	13325070	Disease	p.Arg577Gln	300535.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300535	LOWE OCULOCEREBRORENAL SYNDROME	OMIM	418	COG5411	NULL
4952	67477390	Disease	p.Arg577Gln	300535.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300535	LOWE OCULOCEREBRORENAL SYNDROME	OMIM	418	COG5411	13325072,NP_000267
4952	13325070	Disease	p.His601Gln	300535.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300535	LOWE OCULOCEREBRORENAL SYNDROME	OMIM	452	COG5411	NULL
4952	67477390	Disease	p.His601Gln	300535.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300535	LOWE OCULOCEREBRORENAL SYNDROME	OMIM	452	COG5411	13325072,NP_000267
4952	13325070	Disease	p.Tyr462Cys	300535.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300535	DENT DISEASE 2	OMIM	552	smart00128	NULL
4952	13325070	Disease	p.Tyr462Cys	300535.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300535	DENT DISEASE 2	OMIM	278	COG5411	NULL
4952	13325070	Disease	p.Tyr462Cys	300535.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300535	DENT DISEASE 2	OMIM	486	pfam03372	NULL
4952	67477390	Disease	p.Tyr462Cys	300535.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300535	DENT DISEASE 2	OMIM	552	smart00128	13325072,NP_000267
4952	67477390	Disease	p.Tyr462Cys	300535.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300535	DENT DISEASE 2	OMIM	278	COG5411	13325072,NP_000267
4952	67477390	Disease	p.Tyr462Cys	300535.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300535	DENT DISEASE 2	OMIM	486	pfam03372	13325072,NP_000267
4952	13325070	Disease	p.Arg301Cys	300535.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300535	DENT DISEASE 2	OMIM	271	smart00128	NULL
4952	13325070	Disease	p.Arg301Cys	300535.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300535	DENT DISEASE 2	OMIM	103	COG5411	NULL
4952	13325070	Disease	p.Arg301Cys	300535.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300535	DENT DISEASE 2	OMIM	90	pfam03372	NULL
4952	67477390	Disease	p.Arg301Cys	300535.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300535	DENT DISEASE 2	OMIM	271	smart00128	13325072,NP_000267
4952	67477390	Disease	p.Arg301Cys	300535.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300535	DENT DISEASE 2	OMIM	103	COG5411	13325072,NP_000267
4952	67477390	Disease	p.Arg301Cys	300535.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300535	DENT DISEASE 2	OMIM	90	pfam03372	13325072,NP_000267
23096	53832026	Disease	p.Arg863Trp	300522.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300522	MENTAL RETARDATION, X-LINKED 1	OMIM	406	cd00821	NULL
23096	53832026	Disease	p.Arg863Trp	300522.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300522	MENTAL RETARDATION, X-LINKED 1	OMIM	916	smart00233	NULL
23096	162138911	Disease	p.Arg863Trp	300522.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300522	MENTAL RETARDATION, X-LINKED 1	OMIM	171	smart00222	NULL
23096	162138911	Disease	p.Arg863Trp	300522.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300522	MENTAL RETARDATION, X-LINKED 1	OMIM	139	cd00171	NULL
23096	162138911	Disease	p.Arg863Trp	300522.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300522	MENTAL RETARDATION, X-LINKED 1	OMIM	396	pfam01369	NULL
23096	53832026	Disease	p.Gln801Pro	300522.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300522	MENTAL RETARDATION, X-LINKED 18	OMIM	58	cd00821	NULL
23096	53832026	Disease	p.Gln801Pro	300522.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300522	MENTAL RETARDATION, X-LINKED 18	OMIM	170	smart00233	NULL
23096	162138911	Disease	p.Gln801Pro	300522.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300522	MENTAL RETARDATION, X-LINKED 18	OMIM	106	smart00222	NULL
23096	162138911	Disease	p.Gln801Pro	300522.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300522	MENTAL RETARDATION, X-LINKED 18	OMIM	76	cd00171	NULL
23096	162138911	Disease	p.Gln801Pro	300522.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300522	MENTAL RETARDATION, X-LINKED 18	OMIM	234	pfam01369	NULL
23096	53832026	Disease	p.Arg758Gln	300522.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300522	MENTAL RETARDATION, X-LINKED 1	OMIM	No Domain	N/A	NULL
23096	162138911	Disease	p.Arg758Gln	300522.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300522	MENTAL RETARDATION, X-LINKED 1	OMIM	7	smart00222	NULL
23096	162138911	Disease	p.Arg758Gln	300522.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300522	MENTAL RETARDATION, X-LINKED 1	OMIM	6	cd00171	NULL
23096	162138911	Disease	p.Arg758Gln	300522.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300522	MENTAL RETARDATION, X-LINKED 1	OMIM	36	pfam01369	NULL
23096	53832026	Disease	p.Arg359Cys	300522.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300522	MENTAL RETARDATION, X-LINKED 1	OMIM	No Domain	N/A	NULL
23096	162138911	Disease	p.Arg359Cys	300522.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300522	MENTAL RETARDATION, X-LINKED 1	OMIM	No Domain	N/A	NULL
5160	129063	Disease	p.Arg378His	300502.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	427	COG1071	4505685,NP_000275
5160	291084757	Disease	p.Arg378His	300502.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	No Domain	N/A	NULL
5160	291084742	Disease	p.Arg378His	300502.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	310	pfam00676	NULL
5160	291084742	Disease	p.Arg378His	300502.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	375	COG1071	NULL
5160	291084742	Disease	p.Arg378His	300502.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	461	cd02000	NULL
5160	291084744	Disease	p.Arg378His	300502.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	420	COG1071	NULL
5160	129063	Disease	p.Arg234Gly	300502.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	215	cd02016	4505685,NP_000275
5160	129063	Disease	p.Arg234Gly	300502.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	303	cd02000	4505685,NP_000275
5160	129063	Disease	p.Arg234Gly	300502.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	247	COG1071	4505685,NP_000275
5160	129063	Disease	p.Arg234Gly	300502.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	201	pfam00676	4505685,NP_000275
5160	291084757	Disease	p.Arg234Gly	300502.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	355	cd02000	NULL
5160	291084757	Disease	p.Arg234Gly	300502.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	289	COG1071	NULL
5160	291084757	Disease	p.Arg234Gly	300502.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	234	pfam00676	NULL
5160	291084742	Disease	p.Arg234Gly	300502.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	158	pfam00676	NULL
5160	291084742	Disease	p.Arg234Gly	300502.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	209	COG1071	NULL
5160	291084742	Disease	p.Arg234Gly	300502.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	173	cd02016	NULL
5160	291084742	Disease	p.Arg234Gly	300502.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	253	cd02000	NULL
5160	291084744	Disease	p.Arg234Gly	300502.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	296	cd02000	NULL
5160	291084744	Disease	p.Arg234Gly	300502.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	240	COG1071	NULL
5160	291084744	Disease	p.Arg234Gly	300502.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	193	pfam00676	NULL
5160	291084744	Disease	p.Arg234Gly	300502.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	208	cd02016	NULL
5160	129063	Disease	p.Arg302Cys	300502.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	409	cd02000	4505685,NP_000275
5160	129063	Disease	p.Arg302Cys	300502.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	335	COG1071	4505685,NP_000275
5160	129063	Disease	p.Arg302Cys	300502.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	272	pfam00676	4505685,NP_000275
5160	291084757	Disease	p.Arg302Cys	300502.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	454	cd02000	NULL
5160	291084757	Disease	p.Arg302Cys	300502.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	368	COG1071	NULL
5160	291084757	Disease	p.Arg302Cys	300502.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	303	pfam00676	NULL
5160	291084742	Disease	p.Arg302Cys	300502.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	233	pfam00676	NULL
5160	291084742	Disease	p.Arg302Cys	300502.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	288	COG1071	NULL
5160	291084742	Disease	p.Arg302Cys	300502.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	248	cd02016	NULL
5160	291084742	Disease	p.Arg302Cys	300502.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	354	cd02000	NULL
5160	291084744	Disease	p.Arg302Cys	300502.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	402	cd02000	NULL
5160	291084744	Disease	p.Arg302Cys	300502.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	326	COG1071	NULL
5160	291084744	Disease	p.Arg302Cys	300502.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	264	pfam00676	NULL
5160	291084744	Disease	p.Arg302Cys	300502.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	279	cd02016	NULL
5160	129063	Disease	p.Asp258Ala	300502.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	242	cd02016	4505685,NP_000275
5160	129063	Disease	p.Asp258Ala	300502.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	348	cd02000	4505685,NP_000275
5160	129063	Disease	p.Asp258Ala	300502.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	282	COG1071	4505685,NP_000275
5160	129063	Disease	p.Asp258Ala	300502.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	227	pfam00676	4505685,NP_000275
5160	291084757	Disease	p.Asp258Ala	300502.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	389	cd02000	NULL
5160	291084757	Disease	p.Asp258Ala	300502.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	317	COG1071	NULL
5160	291084757	Disease	p.Asp258Ala	300502.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	258	pfam00676	NULL
5160	291084742	Disease	p.Asp258Ala	300502.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	186	pfam00676	NULL
5160	291084742	Disease	p.Asp258Ala	300502.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	233	COG1071	NULL
5160	291084742	Disease	p.Asp258Ala	300502.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	201	cd02016	NULL
5160	291084742	Disease	p.Asp258Ala	300502.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	289	cd02000	NULL
5160	291084744	Disease	p.Asp258Ala	300502.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	341	cd02000	NULL
5160	291084744	Disease	p.Asp258Ala	300502.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	274	COG1071	NULL
5160	291084744	Disease	p.Asp258Ala	300502.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	220	pfam00676	NULL
5160	291084744	Disease	p.Asp258Ala	300502.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	235	cd02016	NULL
5160	129063	Disease	p.Phe205Leu	300502.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	183	cd02016	4505685,NP_000275
5160	129063	Disease	p.Phe205Leu	300502.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	262	cd02000	4505685,NP_000275
5160	129063	Disease	p.Phe205Leu	300502.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	218	COG1071	4505685,NP_000275
5160	129063	Disease	p.Phe205Leu	300502.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	168	pfam00676	4505685,NP_000275
5160	291084757	Disease	p.Phe205Leu	300502.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	305	cd02000	NULL
5160	291084757	Disease	p.Phe205Leu	300502.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	249	COG1071	NULL
5160	291084757	Disease	p.Phe205Leu	300502.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	203	pfam00676	NULL
5160	291084742	Disease	p.Phe205Leu	300502.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	115	pfam00676	NULL
5160	291084742	Disease	p.Phe205Leu	300502.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	172	COG1071	NULL
5160	291084742	Disease	p.Phe205Leu	300502.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	119	cd02016	NULL
5160	291084742	Disease	p.Phe205Leu	300502.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	190	cd02000	NULL
5160	291084744	Disease	p.Phe205Leu	300502.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	255	cd02000	NULL
5160	291084744	Disease	p.Phe205Leu	300502.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	211	COG1071	NULL
5160	291084744	Disease	p.Phe205Leu	300502.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	160	pfam00676	NULL
5160	291084744	Disease	p.Phe205Leu	300502.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	175	cd02016	NULL
5160	129063	Disease	p.Tyr243Asn	300502.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	227	cd02016	4505685,NP_000275
5160	129063	Disease	p.Tyr243Asn	300502.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	319	cd02000	4505685,NP_000275
5160	129063	Disease	p.Tyr243Asn	300502.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	263	COG1071	4505685,NP_000275
5160	129063	Disease	p.Tyr243Asn	300502.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	210	pfam00676	4505685,NP_000275
5160	291084757	Disease	p.Tyr243Asn	300502.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	364	cd02000	NULL
5160	291084757	Disease	p.Tyr243Asn	300502.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	298	COG1071	NULL
5160	291084757	Disease	p.Tyr243Asn	300502.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	243	pfam00676	NULL
5160	291084742	Disease	p.Tyr243Asn	300502.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	168	pfam00676	NULL
5160	291084742	Disease	p.Tyr243Asn	300502.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	218	COG1071	NULL
5160	291084742	Disease	p.Tyr243Asn	300502.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	183	cd02016	NULL
5160	291084742	Disease	p.Tyr243Asn	300502.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	262	cd02000	NULL
5160	291084744	Disease	p.Tyr243Asn	300502.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	305	cd02000	NULL
5160	291084744	Disease	p.Tyr243Asn	300502.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	249	COG1071	NULL
5160	291084744	Disease	p.Tyr243Asn	300502.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	203	pfam00676	NULL
5160	291084744	Disease	p.Tyr243Asn	300502.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	217	cd02016	NULL
5160	129063	Disease	p.Asp315Asn	300502.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	429	cd02000	4505685,NP_000275
5160	129063	Disease	p.Asp315Asn	300502.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	349	COG1071	4505685,NP_000275
5160	129063	Disease	p.Asp315Asn	300502.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	285	pfam00676	4505685,NP_000275
5160	291084757	Disease	p.Asp315Asn	300502.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	467	cd02000	NULL
5160	291084757	Disease	p.Asp315Asn	300502.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	381	COG1071	NULL
5160	291084757	Disease	p.Asp315Asn	300502.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	316	pfam00676	NULL
5160	291084742	Disease	p.Asp315Asn	300502.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	246	pfam00676	NULL
5160	291084742	Disease	p.Asp315Asn	300502.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	301	COG1071	NULL
5160	291084742	Disease	p.Asp315Asn	300502.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	261	cd02016	NULL
5160	291084742	Disease	p.Asp315Asn	300502.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	377	cd02000	NULL
5160	291084744	Disease	p.Asp315Asn	300502.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	415	cd02000	NULL
5160	291084744	Disease	p.Asp315Asn	300502.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	342	COG1071	NULL
5160	291084744	Disease	p.Asp315Asn	300502.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	278	pfam00676	NULL
5160	129063	Disease	p.Met282Leu	300502.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	266	cd02016	4505685,NP_000275
5160	129063	Disease	p.Met282Leu	300502.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	382	cd02000	4505685,NP_000275
5160	129063	Disease	p.Met282Leu	300502.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	310	COG1071	4505685,NP_000275
5160	129063	Disease	p.Met282Leu	300502.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	251	pfam00676	4505685,NP_000275
5160	291084757	Disease	p.Met282Leu	300502.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	427	cd02000	NULL
5160	291084757	Disease	p.Met282Leu	300502.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	347	COG1071	NULL
5160	291084757	Disease	p.Met282Leu	300502.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	283	pfam00676	NULL
5160	291084742	Disease	p.Met282Leu	300502.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	211	pfam00676	NULL
5160	291084742	Disease	p.Met282Leu	300502.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	264	COG1071	NULL
5160	291084742	Disease	p.Met282Leu	300502.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	228	cd02016	NULL
5160	291084742	Disease	p.Met282Leu	300502.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	320	cd02000	NULL
5160	291084744	Disease	p.Met282Leu	300502.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	365	cd02000	NULL
5160	291084744	Disease	p.Met282Leu	300502.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	299	COG1071	NULL
5160	291084744	Disease	p.Met282Leu	300502.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	244	pfam00676	NULL
5160	291084744	Disease	p.Met282Leu	300502.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	259	cd02016	NULL
5160	129063	Disease	p.Arg10Pro	300502.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	No Domain	N/A	4505685,NP_000275
5160	291084757	Disease	p.Arg10Pro	300502.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	No Domain	N/A	NULL
5160	291084742	Disease	p.Arg10Pro	300502.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	No Domain	N/A	NULL
5160	291084744	Disease	p.Arg10Pro	300502.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	No Domain	N/A	NULL
5160	129063	Disease	p.Arg288His	300502.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	272	cd02016	4505685,NP_000275
5160	129063	Disease	p.Arg288His	300502.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	388	cd02000	4505685,NP_000275
5160	129063	Disease	p.Arg288His	300502.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	316	COG1071	4505685,NP_000275
5160	129063	Disease	p.Arg288His	300502.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	257	pfam00676	4505685,NP_000275
5160	291084757	Disease	p.Arg288His	300502.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	433	cd02000	NULL
5160	291084757	Disease	p.Arg288His	300502.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	353	COG1071	NULL
5160	291084757	Disease	p.Arg288His	300502.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	289	pfam00676	NULL
5160	291084742	Disease	p.Arg288His	300502.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	219	pfam00676	NULL
5160	291084742	Disease	p.Arg288His	300502.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	273	COG1071	NULL
5160	291084742	Disease	p.Arg288His	300502.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	234	cd02016	NULL
5160	291084742	Disease	p.Arg288His	300502.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	340	cd02000	NULL
5160	291084744	Disease	p.Arg288His	300502.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	381	cd02000	NULL
5160	291084744	Disease	p.Arg288His	300502.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	309	COG1071	NULL
5160	291084744	Disease	p.Arg288His	300502.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	250	pfam00676	NULL
5160	291084744	Disease	p.Arg288His	300502.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	265	cd02016	NULL
5160	129063	Disease	p.Arg263Gly	300502.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	247	cd02016	4505685,NP_000275
5160	129063	Disease	p.Arg263Gly	300502.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	353	cd02000	4505685,NP_000275
5160	129063	Disease	p.Arg263Gly	300502.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	287	COG1071	4505685,NP_000275
5160	129063	Disease	p.Arg263Gly	300502.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	232	pfam00676	4505685,NP_000275
5160	291084757	Disease	p.Arg263Gly	300502.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	394	cd02000	NULL
5160	291084757	Disease	p.Arg263Gly	300502.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	325	COG1071	NULL
5160	291084757	Disease	p.Arg263Gly	300502.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	263	pfam00676	NULL
5160	291084742	Disease	p.Arg263Gly	300502.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	191	pfam00676	NULL
5160	291084742	Disease	p.Arg263Gly	300502.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	238	COG1071	NULL
5160	291084742	Disease	p.Arg263Gly	300502.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	206	cd02016	NULL
5160	291084742	Disease	p.Arg263Gly	300502.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	294	cd02000	NULL
5160	291084744	Disease	p.Arg263Gly	300502.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	346	cd02000	NULL
5160	291084744	Disease	p.Arg263Gly	300502.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	280	COG1071	NULL
5160	291084744	Disease	p.Arg263Gly	300502.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	225	pfam00676	NULL
5160	291084744	Disease	p.Arg263Gly	300502.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	LEIGH SYNDROME, X-LINKED	OMIM	240	cd02016	NULL
5160	129063	Disease	p.Leu216Phe	300502.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	194	cd02016	4505685,NP_000275
5160	129063	Disease	p.Leu216Phe	300502.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	285	cd02000	4505685,NP_000275
5160	129063	Disease	p.Leu216Phe	300502.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	229	COG1071	4505685,NP_000275
5160	129063	Disease	p.Leu216Phe	300502.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	179	pfam00676	4505685,NP_000275
5160	291084757	Disease	p.Leu216Phe	300502.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	323	cd02000	NULL
5160	291084757	Disease	p.Leu216Phe	300502.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	268	COG1071	NULL
5160	291084757	Disease	p.Leu216Phe	300502.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	216	pfam00676	NULL
5160	291084742	Disease	p.Leu216Phe	300502.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	130	pfam00676	NULL
5160	291084742	Disease	p.Leu216Phe	300502.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	183	COG1071	NULL
5160	291084742	Disease	p.Leu216Phe	300502.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	139	cd02016	NULL
5160	291084742	Disease	p.Leu216Phe	300502.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	201	cd02000	NULL
5160	291084744	Disease	p.Leu216Phe	300502.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	266	cd02000	NULL
5160	291084744	Disease	p.Leu216Phe	300502.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	222	COG1071	NULL
5160	291084744	Disease	p.Leu216Phe	300502.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	172	pfam00676	NULL
5160	291084744	Disease	p.Leu216Phe	300502.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300502	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	OMIM	187	cd02016	NULL
4068	6094278	Disease	p.Arg32Thr	300490.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	61	smart00252	4506923,NP_002342
4068	6094278	Disease	p.Arg32Thr	300490.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	37	pfam00017	4506923,NP_002342
4068	6094278	Disease	p.Arg32Thr	300490.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	44	cd00173	4506923,NP_002342
4068	169234945	Disease	p.Arg32Thr	300490.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	61	smart00252	NULL
4068	169234945	Disease	p.Arg32Thr	300490.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	37	pfam00017	NULL
4068	169234945	Disease	p.Arg32Thr	300490.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	44	cd00173	NULL
4068	6094278	Disease	p.Pro101Leu	300490.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	159	cd00173	4506923,NP_002342
4068	169234945	Disease	p.Pro101Leu	300490.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	159	cd00173	NULL
4068	6094278	Disease	p.Thr68Ile	300490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	298	smart00252	4506923,NP_002342
4068	6094278	Disease	p.Thr68Ile	300490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	90_G	pfam00017	4506923,NP_002342
4068	6094278	Disease	p.Thr68Ile	300490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	102	cd00173	4506923,NP_002342
4068	169234945	Disease	p.Thr68Ile	300490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	298	smart00252	NULL
4068	169234945	Disease	p.Thr68Ile	300490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	90_G	pfam00017	NULL
4068	169234945	Disease	p.Thr68Ile	300490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	102	cd00173	NULL
4068	6094278	Disease	p.Met1Ile	300490.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	No Domain	N/A	4506923,NP_002342
4068	169234945	Disease	p.Met1Ile	300490.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	No Domain	N/A	NULL
4068	6094278	Disease	p.Arg55Leu	300490.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	227	smart00252	4506923,NP_002342
4068	6094278	Disease	p.Arg55Leu	300490.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	73	pfam00017	4506923,NP_002342
4068	6094278	Disease	p.Arg55Leu	300490.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	89	cd00173	4506923,NP_002342
4068	169234945	Disease	p.Arg55Leu	300490.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	227	smart00252	NULL
4068	169234945	Disease	p.Arg55Leu	300490.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	73	pfam00017	NULL
4068	169234945	Disease	p.Arg55Leu	300490.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300490	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1	OMIM	89	cd00173	NULL
54880	183396783	Disease	p.Pro85Leu	300485.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300485	MICROPHTHALMIA, SYNDROMIC 2	OMIM	No Domain	N/A	NULL
54880	21071037	Disease	p.Pro85Leu	300485.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300485	MICROPHTHALMIA, SYNDROMIC 2	OMIM	No Domain	N/A	NULL
54880	57012588	Disease	p.Pro85Leu	300485.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300485	MICROPHTHALMIA, SYNDROMIC 2	OMIM	No Domain	N/A	183396787,NP_001116857
54880	183396785	Disease	p.Pro85Leu	300485.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300485	MICROPHTHALMIA, SYNDROMIC 2	OMIM	No Domain	N/A	NULL
1536	6996021	Disease	p.Pro415His	300481.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT	OMIM	15	pfam08030	NULL
1536	6996021	Disease	p.Pro415His	300481.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT	OMIM	379	cd00322	NULL
1536	6996021	Disease	p.Pro415His	300481.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT	OMIM	142	cd06198	NULL
1536	6996021	Disease	p.Pro415His	300481.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT	OMIM	342	cd06186	NULL
1536	6996021	Disease	p.Gly389Ala	300481.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT	OMIM	337	cd00322	NULL
1536	6996021	Disease	p.Gly389Ala	300481.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT	OMIM	113	cd06198	NULL
1536	6996021	Disease	p.Gly389Ala	300481.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT	OMIM	166	pfam08022	NULL
1536	6996021	Disease	p.Gly389Ala	300481.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT	OMIM	298	cd06186	NULL
1536	6996021	Disease	p.His209Tyr	300481.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED	OMIM	375	pfam01794	NULL
1536	6996021	Disease	p.Cys244Ser	300481.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT	OMIM	No Domain	N/A	NULL
1536	6996021	Disease	p.Ala156Thr	300481.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT	OMIM	250	pfam01794	NULL
1536	6996021	Disease	p.His101Arg	300481.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT	OMIM	74	pfam01794	NULL
1536	6996021	Disease	p.Asp500Gly	300481.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED	OMIM	235	pfam08030	NULL
1536	6996021	Disease	p.Asp500Gly	300481.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED	OMIM	542	cd00322	NULL
1536	6996021	Disease	p.Asp500Gly	300481.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED	OMIM	226	cd06198	NULL
1536	6996021	Disease	p.Asp500Gly	300481.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED	OMIM	515	cd06186	NULL
1536	6996021	Disease	p.His101Tyr	300481.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT	OMIM	74	pfam01794	NULL
1536	6996021	Disease	p.His303Asn	300481.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT	OMIM	34	cd00322	NULL
1536	6996021	Disease	p.His303Asn	300481.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT	OMIM	7	cd06198	NULL
1536	6996021	Disease	p.His303Asn	300481.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT	OMIM	13	pfam08022	NULL
1536	6996021	Disease	p.His303Asn	300481.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT	OMIM	7	cd06186	NULL
1536	6996021	Disease	p.Pro304Arg	300481.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED	OMIM	35	cd00322	NULL
1536	6996021	Disease	p.Pro304Arg	300481.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED	OMIM	8	cd06198	NULL
1536	6996021	Disease	p.Pro304Arg	300481.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED	OMIM	14	pfam08022	NULL
1536	6996021	Disease	p.Pro304Arg	300481.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300481	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED	OMIM	8	cd06186	NULL
2645	4503951	Disease	p.Asp440Val	300474.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300474	GLYCEROL KINASE DEFICIENCY, ISOLATED	OMIM	248	pfam03727	NULL
2645	4503951	Disease	p.Asp440Val	300474.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300474	GLYCEROL KINASE DEFICIENCY, ISOLATED	OMIM	511	COG5026	NULL
2645	15967159	Disease	p.Asp440Val	300474.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300474	GLYCEROL KINASE DEFICIENCY, ISOLATED	OMIM	510	COG5026	NULL
2645	15967159	Disease	p.Asp440Val	300474.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300474	GLYCEROL KINASE DEFICIENCY, ISOLATED	OMIM	247	pfam03727	NULL
2645	15967161	Disease	p.Asp440Val	300474.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300474	GLYCEROL KINASE DEFICIENCY, ISOLATED	OMIM	512	COG5026	NULL
2645	15967161	Disease	p.Asp440Val	300474.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300474	GLYCEROL KINASE DEFICIENCY, ISOLATED	OMIM	249	pfam03727	NULL
2645	4503951	Disease	p.Trp503Arg	300474.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300474	GLYCEROL KINASE DEFICIENCY, ISOLATED	OMIM	No Domain	N/A	NULL
2645	15967159	Disease	p.Trp503Arg	300474.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300474	GLYCEROL KINASE DEFICIENCY, ISOLATED	OMIM	No Domain	N/A	NULL
2645	15967161	Disease	p.Trp503Arg	300474.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300474	GLYCEROL KINASE DEFICIENCY, ISOLATED	OMIM	No Domain	N/A	NULL
2645	4503951	Disease	p.Asn288Asp	300474.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300474	HYPERGLYCEROLEMIA	OMIM	80	pfam03727	NULL
2645	4503951	Disease	p.Asn288Asp	300474.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300474	HYPERGLYCEROLEMIA	OMIM	343	COG5026	NULL
2645	15967159	Disease	p.Asn288Asp	300474.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300474	HYPERGLYCEROLEMIA	OMIM	342	COG5026	NULL
2645	15967159	Disease	p.Asn288Asp	300474.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300474	HYPERGLYCEROLEMIA	OMIM	79	pfam03727	NULL
2645	15967161	Disease	p.Asn288Asp	300474.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300474	HYPERGLYCEROLEMIA	OMIM	344	COG5026	NULL
2645	15967161	Disease	p.Asn288Asp	300474.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300474	HYPERGLYCEROLEMIA	OMIM	81	pfam03727	NULL
190	20532385	Disease	p.Arg267Pro	300473.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	37	cd07349	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	300473.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	16	cd06157	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	300473.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	17	cd06930	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	300473.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	59	cd06943	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	300473.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	20	cd06929	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	300473.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	27	cd06944	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	300473.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	47	cd06950	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	300473.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	10	smart00430	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	300473.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	40	cd07350	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	300473.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	38	cd06951	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	300473.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	53	cd06931	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	300473.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	49	cd06948	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	300473.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	39	cd06952	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	300473.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	69	cd07068	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	300473.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	197	cd07349	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	300473.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	332	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	300473.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	231	cd06929	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	300473.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	216	cd06944	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	300473.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	215	cd06950	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	300473.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	217	cd07350	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	300473.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	211	cd06951	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	300473.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	208	cd06931	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	300473.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	209	cd06948	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	300473.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	227	cd06952	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	300473.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	254	cd07068	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	300473.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	139	cd07349	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	300473.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	135	cd06157	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	300473.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	138	cd06930	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	300473.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	178	cd06943	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	300473.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	168	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	300473.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	147	cd06929	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	300473.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	154	cd06944	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	300473.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	138	cd06950	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	300473.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	707	smart00430	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	300473.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	159	cd07350	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	300473.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	153	cd06951	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	300473.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	148	cd06931	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	300473.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	148	cd06948	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	300473.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	136	cd06952	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	300473.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	183	cd07068	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	300473.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	61	cd07349	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	300473.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	43	cd06157	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	300473.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	41	cd06930	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	300473.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	85	cd06943	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	300473.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	10	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	300473.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	45	cd06929	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	300473.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	83	cd06944	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	300473.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	71	cd06950	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	300473.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	173	smart00430	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	300473.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	64	cd07350	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	300473.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	62	cd06951	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	300473.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	77	cd06931	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	300473.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	73	cd06948	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	300473.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	63	cd06952	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	300473.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	108	cd07068	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	300473.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	196	cd07349	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	300473.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	331	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	300473.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	230	cd06929	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	300473.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	215	cd06944	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	300473.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	214	cd06950	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	300473.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	216	cd07350	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	300473.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	210	cd06951	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	300473.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	207	cd06931	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	300473.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	208	cd06948	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	300473.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	226	cd06952	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	300473.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	253	cd07068	5016090,NP_000466
190	20532385	Disease	p.Leu381His	300473.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	138	cd07349	5016090,NP_000466
190	20532385	Disease	p.Leu381His	300473.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	134	cd06157	5016090,NP_000466
190	20532385	Disease	p.Leu381His	300473.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	137	cd06930	5016090,NP_000466
190	20532385	Disease	p.Leu381His	300473.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	177	cd06943	5016090,NP_000466
190	20532385	Disease	p.Leu381His	300473.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	167	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Leu381His	300473.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	146	cd06929	5016090,NP_000466
190	20532385	Disease	p.Leu381His	300473.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	153	cd06944	5016090,NP_000466
190	20532385	Disease	p.Leu381His	300473.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	137	cd06950	5016090,NP_000466
190	20532385	Disease	p.Leu381His	300473.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	706	smart00430	5016090,NP_000466
190	20532385	Disease	p.Leu381His	300473.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	158	cd07350	5016090,NP_000466
190	20532385	Disease	p.Leu381His	300473.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	152	cd06951	5016090,NP_000466
190	20532385	Disease	p.Leu381His	300473.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	147	cd06931	5016090,NP_000466
190	20532385	Disease	p.Leu381His	300473.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	147	cd06948	5016090,NP_000466
190	20532385	Disease	p.Leu381His	300473.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	135	cd06952	5016090,NP_000466
190	20532385	Disease	p.Leu381His	300473.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	182	cd07068	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	300473.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	137	cd07349	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	300473.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	133	cd06157	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	300473.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	136	cd06930	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	300473.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	176	cd06943	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	300473.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	166	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	300473.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	145	cd06929	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	300473.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	152	cd06944	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	300473.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	136	cd06950	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	300473.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	705	smart00430	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	300473.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	157	cd07350	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	300473.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	151	cd06951	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	300473.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	146	cd06931	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	300473.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	146	cd06948	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	300473.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	134	cd06952	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	300473.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	181	cd07068	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	300473.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	67	cd07349	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	300473.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	50	cd06157	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	300473.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	47	cd06930	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	300473.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	91	cd06943	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	300473.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	17	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	300473.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	52	cd06929	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	300473.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	89	cd06944	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	300473.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	77	cd06950	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	300473.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	180	smart00430	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	300473.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	70	cd07350	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	300473.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	68	cd06951	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	300473.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	83	cd06931	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	300473.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	79	cd06948	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	300473.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	69	cd06952	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	300473.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	ADRENAL HYPOPLASIA, CONGENITAL	OMIM	114	cd07068	5016090,NP_000466
190	20532385	Disease	p.Trp105Cys	300473.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300473	MINERALOCORTICOID DEFICIENCY, ISOLATED	OMIM	No Domain	N/A	5016090,NP_000466
10084	74735456	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	17	cd00201	74027247,NP_001027553|74027257,NP_001027556|5031957,NP_005701|74027255,NP_001027555|74027253,NP_001027554
10084	74735456	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	18	smart00456	74027247,NP_001027553|74027257,NP_001027556|5031957,NP_005701|74027255,NP_001027555|74027253,NP_001027554
10084	74735456	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	18	pfam00397	74027247,NP_001027553|74027257,NP_001027556|5031957,NP_005701|74027255,NP_001027555|74027253,NP_001027554
10084	74735456	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	17	cd00201	74027247,NP_001027553|74027257,NP_001027556|5031957,NP_005701|74027255,NP_001027555|74027253,NP_001027554
10084	74735456	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	18	smart00456	74027247,NP_001027553|74027257,NP_001027556|5031957,NP_005701|74027255,NP_001027555|74027253,NP_001027554
10084	74735456	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	18	pfam00397	74027247,NP_001027553|74027257,NP_001027556|5031957,NP_005701|74027255,NP_001027555|74027253,NP_001027554
10084	74735456	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	17	cd00201	74027247,NP_001027553|74027257,NP_001027556|5031957,NP_005701|74027255,NP_001027555|74027253,NP_001027554
10084	74735456	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	18	smart00456	74027247,NP_001027553|74027257,NP_001027556|5031957,NP_005701|74027255,NP_001027555|74027253,NP_001027554
10084	74735456	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	18	pfam00397	74027247,NP_001027553|74027257,NP_001027556|5031957,NP_005701|74027255,NP_001027555|74027253,NP_001027554
10084	269784739	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	No Domain	N/A	NULL
10084	269784733	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	No Domain	N/A	NULL
10084	74735456	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	17	cd00201	74027247,NP_001027553|74027257,NP_001027556|5031957,NP_005701|74027255,NP_001027555|74027253,NP_001027554
10084	74735456	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	18	smart00456	74027247,NP_001027553|74027257,NP_001027556|5031957,NP_005701|74027255,NP_001027555|74027253,NP_001027554
10084	74735456	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	18	pfam00397	74027247,NP_001027553|74027257,NP_001027556|5031957,NP_005701|74027255,NP_001027555|74027253,NP_001027554
10084	41281715	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	17	cd00201	NULL
10084	41281715	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	18	smart00456	NULL
10084	41281715	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	18	pfam00397	NULL
10084	269784729	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	17	cd00201	NULL
10084	269784729	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	18	smart00456	NULL
10084	269784729	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	18	pfam00397	NULL
10084	74735456	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	17	cd00201	74027247,NP_001027553|74027257,NP_001027556|5031957,NP_005701|74027255,NP_001027555|74027253,NP_001027554
10084	74735456	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	18	smart00456	74027247,NP_001027553|74027257,NP_001027556|5031957,NP_005701|74027255,NP_001027555|74027253,NP_001027554
10084	74735456	Disease	p.Tyr65Cys	300463.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300463	GOLABI-ITO-HALL SYNDROME	OMIM	18	pfam00397	74027247,NP_001027553|74027257,NP_001027556|5031957,NP_005701|74027255,NP_001027555|74027253,NP_001027554
5009	84028235	Disease	p.Arg109Gln	300461.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	79_G	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Arg109Gln	300461.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	81	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Arg109Gln	300461.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	116	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Leu111Pro	300461.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	79_G	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Leu111Pro	300461.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	83	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Leu111Pro	300461.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	118	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Gln216Glu	300461.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	220	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Gln216Glu	300461.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	232	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Gln216Glu	300461.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	46	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Leu45Pro	300461.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	13	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Leu45Pro	300461.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	12	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Leu45Pro	300461.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	12	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Arg26Gln	300461.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	No Domain	N/A	38788445,NP_000522
5009	84028235	Disease	p.Lys46Arg	300461.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE POLYMORPHISM	OMIM	14	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Lys46Arg	300461.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE POLYMORPHISM	OMIM	13	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Lys46Arg	300461.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE POLYMORPHISM	OMIM	14	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Arg245Trp	300461.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	248	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Arg245Trp	300461.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	269	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Arg245Trp	300461.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	92	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Arg277Trp	300461.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	288	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Arg277Trp	300461.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	302	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Arg277Trp	300461.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	203	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Pro225Leu	300461.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	225_G	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Pro225Leu	300461.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	241	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Pro225Leu	300461.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	62	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Glu87Lys	300461.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	60	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Glu87Lys	300461.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	59	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Glu87Lys	300461.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	88	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Gly162Arg	300461.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	158	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Gly162Arg	300461.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	162	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Gly162Arg	300461.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	275	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Gly47Glu	300461.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	15	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Gly47Glu	300461.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	14	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Gly47Glu	300461.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	15	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Arg62Thr	300461.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	30	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Arg62Thr	300461.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	29	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Arg62Thr	300461.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	33	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Leu272Phe	300461.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	281	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Leu272Phe	300461.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	296	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Leu272Phe	300461.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	156	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Tyr313Asp	300461.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	327	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Tyr313Asp	300461.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	385	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Tyr313Asp	300461.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	345	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Arg129His	300461.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	106	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Arg129His	300461.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	113	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Arg129His	300461.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	177	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Leu148Phe	300461.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	127	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Leu148Phe	300461.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	144	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Leu148Phe	300461.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	232	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Met206Arg	300461.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	209	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Met206Arg	300461.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	222	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Met206Arg	300461.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	28	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Arg40Cys	300461.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	8	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Arg40Cys	300461.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	7	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Arg40His	300461.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	8	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Arg40His	300461.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300461	ORNITHINE TRANSCARBAMYLASE DEFICIENCY	OMIM	7	COG0078	38788445,NP_000522
57575	41017507	Disease	p.Val441Glu	300460.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300460	EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION	OMIM	352	cd00031	14589916,NP_116586
57575	41017507	Disease	p.Val441Glu	300460.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300460	EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION	OMIM	116	pfam00028	14589916,NP_116586
57575	41017507	Disease	p.Val441Glu	300460.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300460	EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION	OMIM	101	smart00112	14589916,NP_116586
57575	14589914	Disease	p.Val441Glu	300460.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300460	EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION	OMIM	352	cd00031	NULL
57575	14589914	Disease	p.Val441Glu	300460.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300460	EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION	OMIM	116	pfam00028	NULL
57575	14589914	Disease	p.Val441Glu	300460.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300460	EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION	OMIM	101	smart00112	NULL
57575	41017507	Disease	p.Asn557Lys	300460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300460	EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION	OMIM	121	pfam00028	14589916,NP_116586
57575	41017507	Disease	p.Asn557Lys	300460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300460	EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION	OMIM	142	smart00112	14589916,NP_116586
57575	41017507	Disease	p.Asn557Lys	300460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300460	EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION	OMIM	160	cd00031	14589916,NP_116586
57575	14589914	Disease	p.Asn557Lys	300460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300460	EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION	OMIM	121	pfam00028	NULL
57575	14589914	Disease	p.Asn557Lys	300460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300460	EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION	OMIM	142	smart00112	NULL
57575	14589914	Disease	p.Asn557Lys	300460.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300460	EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION	OMIM	160	cd00031	NULL
1896	300796551	Disease	p.Tyr61His	300451.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	54112101	Disease	p.Tyr61His	300451.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	54112109	Disease	p.Tyr61His	300451.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	300796531	Disease	p.Tyr61His	300451.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	6166135	Disease	p.Tyr61His	300451.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	4503449,NP_001390
1896	300796551	Disease	p.Arg69Leu	300451.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	54112101	Disease	p.Arg69Leu	300451.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	54112109	Disease	p.Arg69Leu	300451.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	300796531	Disease	p.Arg69Leu	300451.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	6166135	Disease	p.Arg69Leu	300451.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	4503449,NP_001390
1896	300796551	Disease	p.Glu63Lys	300451.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	54112101	Disease	p.Glu63Lys	300451.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	54112109	Disease	p.Glu63Lys	300451.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	300796531	Disease	p.Glu63Lys	300451.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	6166135	Disease	p.Glu63Lys	300451.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	4503449,NP_001390
1896	300796551	Disease	p.Arg155Cys	300451.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	54112101	Disease	p.Arg155Cys	300451.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	54112109	Disease	p.Arg155Cys	300451.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	300796531	Disease	p.Arg155Cys	300451.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	6166135	Disease	p.Arg155Cys	300451.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	4503449,NP_001390
1896	300796551	Disease	p.Arg156Cys	300451.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	54112101	Disease	p.Arg156Cys	300451.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	54112109	Disease	p.Arg156Cys	300451.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	300796531	Disease	p.Arg156Cys	300451.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	6166135	Disease	p.Arg156Cys	300451.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	4503449,NP_001390
1896	300796551	Disease	p.Arg156His	300451.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	54112101	Disease	p.Arg156His	300451.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	54112109	Disease	p.Arg156His	300451.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	300796531	Disease	p.Arg156His	300451.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	6166135	Disease	p.Arg156His	300451.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	4503449,NP_001390
1896	300796551	Disease	p.Pro209Leu	300451.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	30	pfam01391	NULL
1896	54112101	Disease	p.Pro209Leu	300451.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	30	pfam01391	NULL
1896	54112109	Disease	p.Pro209Leu	300451.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	300796531	Disease	p.Pro209Leu	300451.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	6166135	Disease	p.Pro209Leu	300451.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	30	pfam01391	4503449,NP_001390
1896	300796551	Disease	p.Gly224Ala	300451.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	43	pfam01391	NULL
1896	54112101	Disease	p.Gly224Ala	300451.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	43	pfam01391	NULL
1896	54112109	Disease	p.Gly224Ala	300451.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	300796531	Disease	p.Gly224Ala	300451.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	6166135	Disease	p.Gly224Ala	300451.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	43	pfam01391	4503449,NP_001390
1896	300796551	Disease	p.Ala349Thr	300451.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	130	pfam00229	NULL
1896	300796551	Disease	p.Ala349Thr	300451.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	161	cd00184	NULL
1896	54112101	Disease	p.Ala349Thr	300451.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	127	pfam00229	NULL
1896	54112101	Disease	p.Ala349Thr	300451.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	157	cd00184	NULL
1896	54112109	Disease	p.Ala349Thr	300451.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	300796531	Disease	p.Ala349Thr	300451.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	No Domain	N/A	NULL
1896	6166135	Disease	p.Ala349Thr	300451.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	125	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Ala349Thr	300451.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	ECTODERMAL DYSPLASIA, X-LINKED	OMIM	155	cd00184	4503449,NP_001390
1896	300796551	Disease	p.Arg65Gly	300451.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	No Domain	N/A	NULL
1896	54112101	Disease	p.Arg65Gly	300451.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	No Domain	N/A	NULL
1896	54112109	Disease	p.Arg65Gly	300451.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	No Domain	N/A	NULL
1896	300796531	Disease	p.Arg65Gly	300451.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	No Domain	N/A	NULL
1896	6166135	Disease	p.Arg65Gly	300451.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	No Domain	N/A	4503449,NP_001390
1896	300796551	Disease	p.Gln358Glu	300451.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	139	pfam00229	NULL
1896	300796551	Disease	p.Gln358Glu	300451.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	170	cd00184	NULL
1896	54112101	Disease	p.Gln358Glu	300451.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	136	pfam00229	NULL
1896	54112101	Disease	p.Gln358Glu	300451.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	167	cd00184	NULL
1896	54112109	Disease	p.Gln358Glu	300451.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	No Domain	N/A	NULL
1896	300796531	Disease	p.Gln358Glu	300451.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	No Domain	N/A	NULL
1896	6166135	Disease	p.Gln358Glu	300451.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	134	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Gln358Glu	300451.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	165	cd00184	4503449,NP_001390
1896	300796551	Disease	p.Thr338Met	300451.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	119	pfam00229	NULL
1896	300796551	Disease	p.Thr338Met	300451.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	149	cd00184	NULL
1896	54112101	Disease	p.Thr338Met	300451.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	106	pfam00229	NULL
1896	54112101	Disease	p.Thr338Met	300451.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	133	cd00184	NULL
1896	54112109	Disease	p.Thr338Met	300451.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	No Domain	N/A	NULL
1896	300796531	Disease	p.Thr338Met	300451.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	No Domain	N/A	NULL
1896	6166135	Disease	p.Thr338Met	300451.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	104	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Thr338Met	300451.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300451	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	OMIM	131	cd00184	4503449,NP_001390
23229	116243005	Disease	p.Gly55Ala	300429.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300429	HYPEREKPLEXIA AND EPILEPSY	OMIM	132	smart00326	7662108,NP_056000
23229	116243005	Disease	p.Gly55Ala	300429.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300429	HYPEREKPLEXIA AND EPILEPSY	OMIM	135	pfam07653	7662108,NP_056000
23229	116243005	Disease	p.Gly55Ala	300429.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300429	HYPEREKPLEXIA AND EPILEPSY	OMIM	102	cd00174	7662108,NP_056000
23229	116243005	Disease	p.Gly55Ala	300429.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300429	HYPEREKPLEXIA AND EPILEPSY	OMIM	52	pfam00018	7662108,NP_056000
23229	291045194	Disease	p.Gly55Ala	300429.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300429	HYPEREKPLEXIA AND EPILEPSY	OMIM	127	pfam00621	NULL
23229	291045194	Disease	p.Gly55Ala	300429.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300429	HYPEREKPLEXIA AND EPILEPSY	OMIM	64	cd00160	NULL
23229	291045194	Disease	p.Gly55Ala	300429.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300429	HYPEREKPLEXIA AND EPILEPSY	OMIM	88	smart00325	NULL
23229	291045192	Disease	p.Gly55Ala	300429.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300429	HYPEREKPLEXIA AND EPILEPSY	OMIM	5	cd00160	NULL
23229	291045192	Disease	p.Gly55Ala	300429.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300429	HYPEREKPLEXIA AND EPILEPSY	OMIM	2	smart00325	NULL
4534	2851537	Disease	p.Asn207Ser	300415.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300415	MYOTUBULAR MYOPATHY, X-LINKED	OMIM	16	pfam06602	4557896,NP_000243
4534	2851537	Disease	p.Tyr415Cys	300415.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300415	MYOTUBULAR MYOPATHY, X-LINKED	OMIM	306	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Tyr415Cys	300415.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300415	MYOTUBULAR MYOPATHY, X-LINKED	OMIM	306	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Arg69Cys	300415.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300415	MYOTUBULAR MYOPATHY, X-LINKED	OMIM	64	smart00568	4557896,NP_000243
4534	2851537	Disease	p.Arg69Cys	300415.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300415	MYOTUBULAR MYOPATHY, X-LINKED	OMIM	53	pfam02893	4557896,NP_000243
4534	2851537	Disease	p.Arg241Cys	300415.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300415	MYOTUBULAR MYOPATHY, X-LINKED	OMIM	53	pfam06602	4557896,NP_000243
4534	2851537	Disease	p.Glu157Lys	300415.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300415	MYOTUBULAR MYOPATHY, X-LINKED	OMIM	No Domain	N/A	4557896,NP_000243
84295	42559482	Disease	p.Cys99Phe	300414.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300414	BORJESON-FORSSMAN-LEHMANN SYNDROME	OMIM	No Domain	N/A	62865858,NP_001015877|28557677,NP_115834
84295	42559482	Disease	p.Cys99Phe	300414.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300414	BORJESON-FORSSMAN-LEHMANN SYNDROME	OMIM	No Domain	N/A	62865858,NP_001015877|28557677,NP_115834
84295	63478060	Disease	p.Cys99Phe	300414.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300414	BORJESON-FORSSMAN-LEHMANN SYNDROME	OMIM	No Domain	N/A	NULL
84295	42559482	Disease	p.Lys234Glu	300414.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300414	BORJESON-FORSSMAN-LEHMANN SYNDROME	OMIM	No Domain	N/A	62865858,NP_001015877|28557677,NP_115834
84295	42559482	Disease	p.Lys234Glu	300414.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300414	BORJESON-FORSSMAN-LEHMANN SYNDROME	OMIM	No Domain	N/A	62865858,NP_001015877|28557677,NP_115834
84295	63478060	Disease	p.Lys234Glu	300414.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300414	BORJESON-FORSSMAN-LEHMANN SYNDROME	OMIM	No Domain	N/A	NULL
84295	42559482	Disease	p.Cys45Tyr	300414.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300414	BORJESON-FORSSMAN-LEHMANN SYNDROME	OMIM	No Domain	N/A	62865858,NP_001015877|28557677,NP_115834
84295	42559482	Disease	p.Cys45Tyr	300414.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300414	BORJESON-FORSSMAN-LEHMANN SYNDROME	OMIM	No Domain	N/A	62865858,NP_001015877|28557677,NP_115834
84295	63478060	Disease	p.Cys45Tyr	300414.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300414	BORJESON-FORSSMAN-LEHMANN SYNDROME	OMIM	No Domain	N/A	NULL
84295	42559482	Disease	p.His229Arg	300414.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300414	BORJESON-FORSSMAN-LEHMANN SYNDROME	OMIM	No Domain	N/A	62865858,NP_001015877|28557677,NP_115834
84295	42559482	Disease	p.His229Arg	300414.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300414	BORJESON-FORSSMAN-LEHMANN SYNDROME	OMIM	No Domain	N/A	62865858,NP_001015877|28557677,NP_115834
84295	63478060	Disease	p.His229Arg	300414.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300414	BORJESON-FORSSMAN-LEHMANN SYNDROME	OMIM	No Domain	N/A	NULL
84295	42559482	Disease	p.Met1Tyr	300414.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300414	BORJESON-FORSSMAN-LEHMANN SYNDROME	OMIM	No Domain	N/A	62865858,NP_001015877|28557677,NP_115834
84295	42559482	Disease	p.Met1Tyr	300414.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300414	BORJESON-FORSSMAN-LEHMANN SYNDROME	OMIM	No Domain	N/A	62865858,NP_001015877|28557677,NP_115834
84295	63478060	Disease	p.Met1Tyr	300414.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300414	BORJESON-FORSSMAN-LEHMANN SYNDROME	OMIM	No Domain	N/A	NULL
84295	42559482	Disease	p.Arg257Gly	300414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300414	BORJESON-FORSSMAN-LEHMANN SYNDROME	OMIM	No Domain	N/A	62865858,NP_001015877|28557677,NP_115834
84295	42559482	Disease	p.Arg257Gly	300414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300414	BORJESON-FORSSMAN-LEHMANN SYNDROME	OMIM	No Domain	N/A	62865858,NP_001015877|28557677,NP_115834
84295	63478060	Disease	p.Arg257Gly	300414.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300414	BORJESON-FORSSMAN-LEHMANN SYNDROME	OMIM	No Domain	N/A	NULL
5354	41349501	Disease	p.Pro215Ser	300401.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	258	pfam01275	NULL
5354	41393531	Disease	p.Pro215Ser	300401.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	39	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Pro215Ser	300401.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	221	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Pro215Ser	300401.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	39	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Pro215Ser	300401.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	221	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41349501	Disease	p.Trp162Arg	300401.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	21	smart00002	NULL
5354	41349501	Disease	p.Trp162Arg	300401.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	203	pfam01275	NULL
5354	41393531	Disease	p.Trp162Arg	300401.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	164	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Trp162Arg	300401.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	164	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41349501	Disease	p.Pro14Leu	300401.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	13	pfam01275	NULL
5354	41393531	Disease	p.Pro14Leu	300401.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	13	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Pro14Leu	300401.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	13	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41349501	Disease	p.Thr155Ile	300401.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	12	smart00002	NULL
5354	41349501	Disease	p.Thr155Ile	300401.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	195	pfam01275	NULL
5354	41393531	Disease	p.Thr155Ile	300401.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	157	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Thr155Ile	300401.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	157	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41349501	Disease	p.Val218Phe	300401.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	261	pfam01275	NULL
5354	41393531	Disease	p.Val218Phe	300401.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	42	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Val218Phe	300401.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	224	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Val218Phe	300401.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	42	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Val218Phe	300401.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	224	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41349501	Disease	p.Thr181Pro	300401.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	40	smart00002	NULL
5354	41349501	Disease	p.Thr181Pro	300401.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	222	pfam01275	NULL
5354	41393531	Disease	p.Thr181Pro	300401.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	3	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Thr181Pro	300401.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	186	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Thr181Pro	300401.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	3	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Thr181Pro	300401.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	186	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41349501	Disease	p.Leu223Pro	300401.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	266	pfam01275	NULL
5354	41393531	Disease	p.Leu223Pro	300401.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	49	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Leu223Pro	300401.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	231	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Leu223Pro	300401.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	49	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Leu223Pro	300401.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	231	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41349501	Disease	p.Asp202His	300401.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	63	smart00002	NULL
5354	41349501	Disease	p.Asp202His	300401.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	245	pfam01275	NULL
5354	41393531	Disease	p.Asp202His	300401.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	26	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Asp202His	300401.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	208	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Asp202His	300401.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	26	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Asp202His	300401.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	208	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41349501	Disease	p.Gly73Arg	300401.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	74	pfam01275	NULL
5354	41393531	Disease	p.Gly73Arg	300401.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	74	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Gly73Arg	300401.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	74	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41349501	Disease	p.Gly220Cys	300401.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE, CONNATAL	OMIM	263	pfam01275	NULL
5354	41393531	Disease	p.Gly220Cys	300401.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE, CONNATAL	OMIM	44	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Gly220Cys	300401.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE, CONNATAL	OMIM	226	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Gly220Cys	300401.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE, CONNATAL	OMIM	44	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Gly220Cys	300401.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE, CONNATAL	OMIM	226	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41349501	Disease	p.His139Tyr	300401.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	179	pfam01275	NULL
5354	41393531	Disease	p.His139Tyr	300401.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	141	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.His139Tyr	300401.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	141	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41349501	Disease	p.Ile186Thr	300401.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	45	smart00002	NULL
5354	41349501	Disease	p.Ile186Thr	300401.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	227	pfam01275	NULL
5354	41393531	Disease	p.Ile186Thr	300401.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	8	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Ile186Thr	300401.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	191	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Ile186Thr	300401.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	8	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Ile186Thr	300401.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	191	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41349501	Disease	p.Thr42Ile	300401.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	41	pfam01275	NULL
5354	41393531	Disease	p.Thr42Ile	300401.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	41	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Thr42Ile	300401.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	41	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41349501	Disease	p.Met1Ile	300401.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE, MILD	OMIM	No Domain	N/A	NULL
5354	41393531	Disease	p.Met1Ile	300401.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE, MILD	OMIM	No Domain	N/A	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Met1Ile	300401.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE, MILD	OMIM	No Domain	N/A	192449447,NP_001122306|41349499,NP_000524
5354	41349501	Disease	p.Phe236Ser	300401.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	279	pfam01275	NULL
5354	41393531	Disease	p.Phe236Ser	300401.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	62	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Phe236Ser	300401.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	244	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Phe236Ser	300401.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	62	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Phe236Ser	300401.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	244	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41349501	Disease	p.Ala242Val	300401.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE, CONNATAL	OMIM	No Domain	N/A	NULL
5354	41393531	Disease	p.Ala242Val	300401.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE, CONNATAL	OMIM	250	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Ala242Val	300401.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE, CONNATAL	OMIM	250	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41349501	Disease	p.Ser169Phe	300401.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	28	smart00002	NULL
5354	41349501	Disease	p.Ser169Phe	300401.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	210	pfam01275	NULL
5354	41393531	Disease	p.Ser169Phe	300401.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	171	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Ser169Phe	300401.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	171	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41349501	Disease	p.Arg137Trp	300401.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	174	pfam01275	NULL
5354	41393531	Disease	p.Arg137Trp	300401.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	139	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Arg137Trp	300401.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	SPASTIC PARAPLEGIA 2	OMIM	139	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41349501	Disease	p.Asp57Tyr	300401.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	58	pfam01275	NULL
5354	41393531	Disease	p.Asp57Tyr	300401.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	58	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Asp57Tyr	300401.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300401	PELIZAEUS-MERZBACHER DISEASE	OMIM	58	pfam01275	192449447,NP_001122306|41349499,NP_000524
25937	67462080	Disease	p.Gly197Arg	300394.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300394	NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED	OMIM	No Domain	N/A	13346498,NP_056287|270132744,NP_001161752|270132693,NP_001161750
25937	67462080	Disease	p.Gly197Arg	300394.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300394	NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED	OMIM	No Domain	N/A	13346498,NP_056287|270132744,NP_001161752|270132693,NP_001161750
25937	67462080	Disease	p.Gly197Arg	300394.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300394	NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED	OMIM	No Domain	N/A	13346498,NP_056287|270132744,NP_001161752|270132693,NP_001161750
25937	67462080	Disease	p.Cys118Arg	300394.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300394	BARTH SYNDROME	OMIM	No Domain	N/A	13346498,NP_056287|270132744,NP_001161752|270132693,NP_001161750
25937	67462080	Disease	p.Cys118Arg	300394.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300394	BARTH SYNDROME	OMIM	No Domain	N/A	13346498,NP_056287|270132744,NP_001161752|270132693,NP_001161750
25937	67462080	Disease	p.Cys118Arg	300394.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300394	BARTH SYNDROME	OMIM	No Domain	N/A	13346498,NP_056287|270132744,NP_001161752|270132693,NP_001161750
25937	67462080	Disease	p.Arg94Ser	300394.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300394	BARTH SYNDROME	OMIM	No Domain	N/A	13346498,NP_056287|270132744,NP_001161752|270132693,NP_001161750
25937	67462080	Disease	p.Arg94Ser	300394.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300394	BARTH SYNDROME	OMIM	No Domain	N/A	13346498,NP_056287|270132744,NP_001161752|270132693,NP_001161750
25937	67462080	Disease	p.Arg94Ser	300394.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300394	BARTH SYNDROME	OMIM	No Domain	N/A	13346498,NP_056287|270132744,NP_001161752|270132693,NP_001161750
265	33356558	Disease	p.Thr51Ile	300391.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300391	AMELOGENESIS IMPERFECTA, X-LINKED 1	OMIM	66	pfam02948	NULL
265	33356558	Disease	p.Thr51Ile	300391.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300391	AMELOGENESIS IMPERFECTA, X-LINKED 1	OMIM	55	smart00818	NULL
265	1168430	Disease	p.Thr51Ile	300391.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300391	AMELOGENESIS IMPERFECTA, X-LINKED 1	OMIM	39	smart00818	4502071,NP_001133
265	1168430	Disease	p.Thr51Ile	300391.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300391	AMELOGENESIS IMPERFECTA, X-LINKED 1	OMIM	50	pfam02948	4502071,NP_001133
265	33356556	Disease	p.Thr51Ile	300391.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300391	AMELOGENESIS IMPERFECTA, X-LINKED 1	OMIM	24	smart00818	NULL
265	33356556	Disease	p.Thr51Ile	300391.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300391	AMELOGENESIS IMPERFECTA, X-LINKED 1	OMIM	35	pfam02948	NULL
265	33356558	Disease	p.Pro70Thr	300391.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300391	AMELOGENESIS IMPERFECTA, X-LINKED 1	OMIM	93	pfam02948	NULL
265	33356558	Disease	p.Pro70Thr	300391.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300391	AMELOGENESIS IMPERFECTA, X-LINKED 1	OMIM	77	smart00818	NULL
265	1168430	Disease	p.Pro70Thr	300391.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300391	AMELOGENESIS IMPERFECTA, X-LINKED 1	OMIM	59	smart00818	4502071,NP_001133
265	1168430	Disease	p.Pro70Thr	300391.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300391	AMELOGENESIS IMPERFECTA, X-LINKED 1	OMIM	69	pfam02948	4502071,NP_001133
265	33356556	Disease	p.Pro70Thr	300391.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300391	AMELOGENESIS IMPERFECTA, X-LINKED 1	OMIM	44	smart00818	NULL
265	33356556	Disease	p.Pro70Thr	300391.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300391	AMELOGENESIS IMPERFECTA, X-LINKED 1	OMIM	55	pfam02948	NULL
265	33356558	Disease	p.Met1Thr	300391.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300391	AMELOGENESIS IMPERFECTA, X-LINKED 1	OMIM	No Domain	N/A	NULL
265	1168430	Disease	p.Met1Thr	300391.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300391	AMELOGENESIS IMPERFECTA, X-LINKED 1	OMIM	No Domain	N/A	4502071,NP_001133
265	33356556	Disease	p.Met1Thr	300391.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300391	AMELOGENESIS IMPERFECTA, X-LINKED 1	OMIM	No Domain	N/A	NULL
265	33356558	Disease	p.Trp4Ser	300391.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300391	AMELOGENESIS IMPERFECTA, X-LINKED 1	OMIM	No Domain	N/A	NULL
265	1168430	Disease	p.Trp4Ser	300391.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300391	AMELOGENESIS IMPERFECTA, X-LINKED 1	OMIM	No Domain	N/A	4502071,NP_001133
265	33356556	Disease	p.Trp4Ser	300391.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300391	AMELOGENESIS IMPERFECTA, X-LINKED 1	OMIM	No Domain	N/A	NULL
959	231718	Disease	p.Ala235Pro	300386.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300386	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1	OMIM	134	pfam00229	4557433,NP_000065
959	231718	Disease	p.Ala235Pro	300386.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300386	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1	OMIM	146	smart00207	4557433,NP_000065
959	231718	Disease	p.Ala235Pro	300386.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300386	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1	OMIM	165	cd00184	4557433,NP_000065
959	231718	Disease	p.Ser128Arg	300386.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300386	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1	OMIM	7	cd00184	4557433,NP_000065
959	231718	Disease	p.Gly227Val	300386.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300386	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1	OMIM	126	pfam00229	4557433,NP_000065
959	231718	Disease	p.Gly227Val	300386.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300386	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1	OMIM	138	smart00207	4557433,NP_000065
959	231718	Disease	p.Gly227Val	300386.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300386	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1	OMIM	156	cd00184	4557433,NP_000065
959	231718	Disease	p.Leu155Pro	300386.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300386	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1	OMIM	20	pfam00229	4557433,NP_000065
959	231718	Disease	p.Leu155Pro	300386.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300386	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1	OMIM	22	smart00207	4557433,NP_000065
959	231718	Disease	p.Leu155Pro	300386.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300386	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1	OMIM	57	cd00184	4557433,NP_000065
959	231718	Disease	p.Thr211Asp	300386.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300386	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1	OMIM	100	pfam00229	4557433,NP_000065
959	231718	Disease	p.Thr211Asp	300386.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300386	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1	OMIM	96	smart00207	4557433,NP_000065
959	231718	Disease	p.Thr211Asp	300386.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300386	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1	OMIM	131	cd00184	4557433,NP_000065
959	231718	Disease	p.Met36Arg	300386.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300386	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1	OMIM	No Domain	N/A	4557433,NP_000065
959	231718	Disease	p.Trp140Gly	300386.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300386	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1	OMIM	3	pfam00229	4557433,NP_000065
959	231718	Disease	p.Trp140Gly	300386.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300386	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1	OMIM	3	smart00207	4557433,NP_000065
959	231718	Disease	p.Trp140Gly	300386.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300386	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1	OMIM	38	cd00184	4557433,NP_000065
959	231718	Disease	p.Ala123Glu	300386.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300386	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1	OMIM	2	cd00184	4557433,NP_000065
2010	1706639	Disease	p.Met1Val	300384.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300384	EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED	OMIM	No Domain	N/A	4557553,NP_000108
2010	1706639	Disease	p.Pro183His	300384.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300384	EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED	OMIM	No Domain	N/A	4557553,NP_000108
2010	1706639	Disease	p.Pro183Thr	300384.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300384	EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED	OMIM	No Domain	N/A	4557553,NP_000108
5199	464473	Disease	p.Arg73Trp	300383.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300383	PROPERDIN DEFICIENCY, TYPE II	OMIM	No Domain	N/A	223671861,NP_001138724|4505737,NP_002612
5199	464473	Disease	p.Arg73Trp	300383.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300383	PROPERDIN DEFICIENCY, TYPE II	OMIM	No Domain	N/A	223671861,NP_001138724|4505737,NP_002612
5199	464473	Disease	p.Gly271Val	300383.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300383	PROPERDIN DEFICIENCY, TYPE I	OMIM	11	pfam00090	223671861,NP_001138724|4505737,NP_002612
5199	464473	Disease	p.Gly271Val	300383.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300383	PROPERDIN DEFICIENCY, TYPE I	OMIM	18	smart00209	223671861,NP_001138724|4505737,NP_002612
5199	464473	Disease	p.Gly271Val	300383.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300383	PROPERDIN DEFICIENCY, TYPE I	OMIM	11	pfam00090	223671861,NP_001138724|4505737,NP_002612
5199	464473	Disease	p.Gly271Val	300383.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300383	PROPERDIN DEFICIENCY, TYPE I	OMIM	18	smart00209	223671861,NP_001138724|4505737,NP_002612
5199	464473	Disease	p.Tyr387Asp	300383.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300383	PROPERDIN DEFICIENCY, TYPE III	OMIM	No Domain	N/A	223671861,NP_001138724|4505737,NP_002612
5199	464473	Disease	p.Tyr387Asp	300383.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300383	PROPERDIN DEFICIENCY, TYPE III	OMIM	No Domain	N/A	223671861,NP_001138724|4505737,NP_002612
10054	42559898	Disease	p.Pro353Leu	300382.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	OMIM	466_G	cd01485	4885649,NP_005490
10054	42559898	Disease	p.Pro353Leu	300382.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	OMIM	407	cd01484	4885649,NP_005490
10054	42559898	Disease	p.Pro353Leu	300382.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	OMIM	440	cd01490	4885649,NP_005490
10054	42559898	Disease	p.Pro353Leu	300382.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	OMIM	382	cd01489	4885649,NP_005490
10054	42559898	Disease	p.Pro353Leu	300382.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	OMIM	15	pfam02134	4885649,NP_005490
10054	42559898	Disease	p.Arg332His	300382.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	LISSENCEPHALY, X-LINKED, 2	OMIM	454	cd01485	4885649,NP_005490
10054	42559898	Disease	p.Arg332His	300382.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	LISSENCEPHALY, X-LINKED, 2	OMIM	391_G	cd01484	4885649,NP_005490
10054	42559898	Disease	p.Arg332His	300382.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	LISSENCEPHALY, X-LINKED, 2	OMIM	417	cd01490	4885649,NP_005490
10054	42559898	Disease	p.Arg332His	300382.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	LISSENCEPHALY, X-LINKED, 2	OMIM	361	cd01489	4885649,NP_005490
10054	42559898	Disease	p.Leu343Gln	300382.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	LISSENCEPHALY, X-LINKED, 2	OMIM	463	cd01485	4885649,NP_005490
10054	42559898	Disease	p.Leu343Gln	300382.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	LISSENCEPHALY, X-LINKED, 2	OMIM	397	cd01484	4885649,NP_005490
10054	42559898	Disease	p.Leu343Gln	300382.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	LISSENCEPHALY, X-LINKED, 2	OMIM	428	cd01490	4885649,NP_005490
10054	42559898	Disease	p.Leu343Gln	300382.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	LISSENCEPHALY, X-LINKED, 2	OMIM	372	cd01489	4885649,NP_005490
10054	42559898	Disease	p.Leu33Pro	300382.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED	OMIM	40	cd00757	4885649,NP_005490
10054	42559898	Disease	p.Leu33Pro	300382.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED	OMIM	27	cd00755	4885649,NP_005490
10054	42559898	Disease	p.Leu33Pro	300382.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED	OMIM	17	pfam00899	4885649,NP_005490
10054	42559898	Disease	p.Leu33Pro	300382.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED	OMIM	53	COG1179	4885649,NP_005490
10054	42559898	Disease	p.Leu33Pro	300382.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED	OMIM	66	COG0476	4885649,NP_005490
10054	42559898	Disease	p.Leu33Pro	300382.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED	OMIM	35	cd01485	4885649,NP_005490
10054	42559898	Disease	p.Leu33Pro	300382.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED	OMIM	15	cd01484	4885649,NP_005490
10054	42559898	Disease	p.Leu33Pro	300382.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED	OMIM	15	cd01490	4885649,NP_005490
10054	42559898	Disease	p.Leu33Pro	300382.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED	OMIM	15	cd01487	4885649,NP_005490
10054	42559898	Disease	p.Leu33Pro	300382.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED	OMIM	15	cd01489	4885649,NP_005490
10054	42559898	Disease	p.Leu33Pro	300382.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED	OMIM	15	cd01488	4885649,NP_005490
10054	42559898	Disease	p.Leu33Pro	300382.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED	OMIM	37	cd01492	4885649,NP_005490
10054	42559898	Disease	p.Leu33Pro	300382.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED	OMIM	15	cd01483	4885649,NP_005490
10054	42559898	Disease	p.Gly286Ser	300382.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED	OMIM	408	cd01485	4885649,NP_005490
10054	42559898	Disease	p.Gly286Ser	300382.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED	OMIM	351	cd01484	4885649,NP_005490
10054	42559898	Disease	p.Gly286Ser	300382.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED	OMIM	344	cd01490	4885649,NP_005490
10054	42559898	Disease	p.Gly286Ser	300382.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED	OMIM	289	cd01489	4885649,NP_005490
10054	42559898	Disease	p.Thr333Asn	300382.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA	OMIM	455	cd01485	4885649,NP_005490
10054	42559898	Disease	p.Thr333Asn	300382.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA	OMIM	391_G	cd01484	4885649,NP_005490
10054	42559898	Disease	p.Thr333Asn	300382.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA	OMIM	418	cd01490	4885649,NP_005490
10054	42559898	Disease	p.Thr333Asn	300382.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300382	CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA	OMIM	362	cd01489	4885649,NP_005490
1756	5032291	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032315	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	91	smart00033	NULL
1756	5032315	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	134	pfam00307	NULL
1756	5032315	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	54	cd00014	NULL
1756	5032303	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	49	pfam09068	NULL
1756	5032285	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	91	smart00033	NULL
1756	5032285	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	134	pfam00307	NULL
1756	5032285	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	54	cd00014	NULL
1756	5032299	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	49	pfam09068	NULL
1756	5032313	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	58	cd00176	NULL
1756	5032313	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	86	smart00150	NULL
1756	5032313	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	50	pfam00435	NULL
1756	291490677	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	58	cd00176	NULL
1756	291490677	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	86	smart00150	NULL
1756	291490677	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	50	pfam00435	NULL
1756	5032301	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	49	pfam09068	NULL
1756	150036268	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032295	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	112	cd00176	NULL
1756	5032297	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	49	pfam09068	NULL
1756	5032309	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	58	cd00176	NULL
1756	5032309	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	86	smart00150	NULL
1756	5032309	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	50	pfam00435	NULL
1756	5032283	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	87	smart00033	NULL
1756	5032283	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	129	pfam00307	NULL
1756	5032283	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	50	cd00014	NULL
1756	5032283	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	47	COG5069	NULL
1756	5032311	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	58	cd00176	NULL
1756	5032311	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	86	smart00150	NULL
1756	5032311	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	50	pfam00435	NULL
1756	5032305	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	49	pfam09068	NULL
1756	5032281	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	55	COG5069	NULL
1756	5032281	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	111	smart00033	NULL
1756	5032281	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	150	pfam00307	NULL
1756	5032281	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	58	cd00014	NULL
1756	5032293	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	58	cd00176	NULL
1756	5032293	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	86	smart00150	NULL
1756	5032293	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	50	pfam00435	NULL
1756	5032287	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	91	smart00033	NULL
1756	5032287	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	134	pfam00307	NULL
1756	5032287	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	54	cd00014	NULL
1756	5032287	Disease	p.Leu54Arg	300377.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	51	COG5069	NULL
1756	5032291	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	No Domain	N/A	NULL
1756	5032315	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	No Domain	N/A	NULL
1756	5032303	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	No Domain	N/A	NULL
1756	5032285	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	No Domain	N/A	NULL
1756	5032299	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	No Domain	N/A	NULL
1756	5032313	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	No Domain	N/A	NULL
1756	291490677	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	No Domain	N/A	NULL
1756	5032301	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	No Domain	N/A	NULL
1756	150036268	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	No Domain	N/A	NULL
1756	5032295	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	No Domain	N/A	NULL
1756	5032297	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	No Domain	N/A	NULL
1756	5032309	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	No Domain	N/A	NULL
1756	5032283	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	37	smart00291	NULL
1756	5032283	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	34	pfam00569	NULL
1756	5032283	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	30	cd02334	NULL
1756	5032283	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	39	cd02249	NULL
1756	5032311	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	No Domain	N/A	NULL
1756	5032305	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	No Domain	N/A	NULL
1756	5032281	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	38	cd02334	NULL
1756	5032281	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	50	cd02249	NULL
1756	5032281	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	42	pfam00569	NULL
1756	5032281	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	46	smart00291	NULL
1756	5032293	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	No Domain	N/A	NULL
1756	5032287	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	41	smart00291	NULL
1756	5032287	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	38	pfam00569	NULL
1756	5032287	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	34	cd02334	NULL
1756	5032287	Disease	p.Cys3340Tyr	300377.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE	OMIM	43	cd02249	NULL
1756	5032291	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	93	smart00150	NULL
1756	5032291	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	64	cd00176	NULL
1756	5032315	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032303	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	33	pfam09069	NULL
1756	5032285	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032299	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	33	pfam09069	NULL
1756	5032313	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	228	cd00176	NULL
1756	5032313	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	90	smart00150	NULL
1756	5032313	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	54	pfam00435	NULL
1756	291490677	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	228	cd00176	NULL
1756	291490677	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	90	smart00150	NULL
1756	291490677	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	54	pfam00435	NULL
1756	5032301	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	33	pfam09069	NULL
1756	150036268	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	89	smart00150	NULL
1756	150036268	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	61	cd00176	NULL
1756	5032295	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	307	smart00150	NULL
1756	5032295	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	300	cd00176	NULL
1756	5032297	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	33	pfam09069	NULL
1756	5032309	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	228	cd00176	NULL
1756	5032309	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	90	smart00150	NULL
1756	5032309	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	54	pfam00435	NULL
1756	5032283	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	82	smart00033	NULL
1756	5032283	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	124	pfam00307	NULL
1756	5032283	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	45	cd00014	NULL
1756	5032283	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	186	COG5069	NULL
1756	5032311	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	228	cd00176	NULL
1756	5032311	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	90	smart00150	NULL
1756	5032311	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	54	pfam00435	NULL
1756	5032305	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	33	pfam09069	NULL
1756	5032281	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	132	pfam00307	NULL
1756	5032281	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	53	cd00014	NULL
1756	5032281	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	194	COG5069	NULL
1756	5032281	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	90	smart00033	NULL
1756	5032293	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	228	cd00176	NULL
1756	5032293	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	90	smart00150	NULL
1756	5032293	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	54	pfam00435	NULL
1756	5032287	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	128	pfam00307	NULL
1756	5032287	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	49	cd00014	NULL
1756	5032287	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	190	COG5069	NULL
1756	5032287	Disease	p.Ala168Asp	300377.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	86	smart00033	NULL
1756	5032291	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	5	pfam00435	NULL
1756	5032291	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	138	cd00176	NULL
1756	5032315	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	15	cd00176	NULL
1756	5032315	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	14	smart00150	NULL
1756	5032315	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	16	pfam00435	NULL
1756	5032303	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	145	pfam09069	NULL
1756	5032285	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	15	cd00176	NULL
1756	5032285	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	14	smart00150	NULL
1756	5032285	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	16	pfam00435	NULL
1756	5032299	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	145	pfam09069	NULL
1756	5032313	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	2	cd00176	NULL
1756	5032313	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	3	pfam00435	NULL
1756	291490677	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	2	cd00176	NULL
1756	291490677	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	3	pfam00435	NULL
1756	5032301	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	145	pfam09069	NULL
1756	150036268	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	135	cd00176	NULL
1756	150036268	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	2	pfam00435	NULL
1756	5032295	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	26	cd00176	NULL
1756	5032295	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	45	smart00150	NULL
1756	5032295	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	28	pfam00435	NULL
1756	5032297	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	145	pfam09069	NULL
1756	5032309	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	2	cd00176	NULL
1756	5032309	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	3	pfam00435	NULL
1756	5032283	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	233	smart00033	NULL
1756	5032283	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	245	pfam00307	NULL
1756	5032283	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	131	cd00014	NULL
1756	5032283	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	254	COG5069	NULL
1756	5032311	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	2	cd00176	NULL
1756	5032311	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	3	pfam00435	NULL
1756	5032305	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	145	pfam09069	NULL
1756	5032281	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	253	pfam00307	NULL
1756	5032281	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	139	cd00014	NULL
1756	5032281	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	281	COG5069	NULL
1756	5032293	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	2	cd00176	NULL
1756	5032293	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	3	pfam00435	NULL
1756	5032287	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	249	pfam00307	NULL
1756	5032287	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	135	cd00014	NULL
1756	5032287	Disease	p.Tyr231Asn	300377.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	272	COG5069	NULL
1756	5032291	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	12	smart00150	NULL
1756	5032291	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	13	cd00176	NULL
1756	5032291	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	14	pfam00435	NULL
1756	5032315	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	77	pfam00435	NULL
1756	5032315	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	260	cd00176	NULL
1756	5032303	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032285	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	77	pfam00435	NULL
1756	5032285	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	260	cd00176	NULL
1756	5032299	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032313	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	30	pfam09069	NULL
1756	291490677	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	30	pfam09069	NULL
1756	5032301	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	150036268	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	11	pfam00435	NULL
1756	150036268	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	10	cd00176	NULL
1756	150036268	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	8	smart00150	NULL
1756	5032295	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032297	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032309	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	30	pfam09069	NULL
1756	5032283	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	70	cd00176	NULL
1756	5032283	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	100	smart00150	NULL
1756	5032311	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	30	pfam09069	NULL
1756	5032305	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032281	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	112	smart00150	NULL
1756	5032281	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	78	cd00176	NULL
1756	5032293	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	30	pfam09069	NULL
1756	5032287	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	107	smart00150	NULL
1756	5032287	Disease	p.Lys773Glu	300377.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	74	cd00176	NULL
1756	5032291	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032315	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	124	cd00176	NULL
1756	5032315	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	345	smart00150	NULL
1756	5032315	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	116	pfam00435	NULL
1756	5032303	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032285	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	124	cd00176	NULL
1756	5032285	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	345	smart00150	NULL
1756	5032285	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	116	pfam00435	NULL
1756	5032299	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032313	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	291490677	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032301	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	150036268	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032295	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032297	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032309	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032283	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	313	cd00176	NULL
1756	5032283	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	320	smart00150	NULL
1756	5032311	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032305	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032281	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	339	smart00150	NULL
1756	5032281	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	321	cd00176	NULL
1756	5032293	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032287	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	317	cd00176	NULL
1756	5032287	Disease	p.Glu2910Val	300377.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	325	smart00150	NULL
1756	5032291	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032315	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	126	cd00176	NULL
1756	5032315	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	347	smart00150	NULL
1756	5032315	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	118	pfam00435	NULL
1756	5032303	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032285	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	126	cd00176	NULL
1756	5032285	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	347	smart00150	NULL
1756	5032285	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	118	pfam00435	NULL
1756	5032299	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032313	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	291490677	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032301	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	150036268	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032295	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032297	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032309	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032283	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	315	cd00176	NULL
1756	5032283	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	323	smart00150	NULL
1756	5032311	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032305	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032281	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	341	smart00150	NULL
1756	5032281	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	323	cd00176	NULL
1756	5032293	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032287	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	319	cd00176	NULL
1756	5032287	Disease	p.Asn2912Asp	300377.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	DUCHENNE MUSCULAR DYSTROPHY	OMIM	327	smart00150	NULL
1756	5032291	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032315	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	135	cd00176	NULL
1756	5032303	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032285	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	135	cd00176	NULL
1756	5032299	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032313	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	291490677	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032301	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	150036268	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032295	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032297	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032309	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032283	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	324	cd00176	NULL
1756	5032283	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	342	smart00150	NULL
1756	5032311	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032305	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032281	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	350	smart00150	NULL
1756	5032281	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	332	cd00176	NULL
1756	5032293	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032287	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	328	cd00176	NULL
1756	5032287	Disease	p.His2921Arg	300377.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	346	smart00150	NULL
1756	5032291	Disease	p.Ala3421Val	300377.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032315	Disease	p.Ala3421Val	300377.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032303	Disease	p.Ala3421Val	300377.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032285	Disease	p.Ala3421Val	300377.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032299	Disease	p.Ala3421Val	300377.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032313	Disease	p.Ala3421Val	300377.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	291490677	Disease	p.Ala3421Val	300377.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032301	Disease	p.Ala3421Val	300377.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	150036268	Disease	p.Ala3421Val	300377.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032295	Disease	p.Ala3421Val	300377.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032297	Disease	p.Ala3421Val	300377.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032309	Disease	p.Ala3421Val	300377.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032283	Disease	p.Ala3421Val	300377.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032311	Disease	p.Ala3421Val	300377.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032305	Disease	p.Ala3421Val	300377.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032281	Disease	p.Ala3421Val	300377.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032293	Disease	p.Ala3421Val	300377.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032287	Disease	p.Ala3421Val	300377.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	BECKER MUSCULAR DYSTROPHY	OMIM	No Domain	N/A	NULL
1756	5032291	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	58	pfam00435	NULL
1756	5032291	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	246	cd00176	NULL
1756	5032315	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	80	cd00176	NULL
1756	5032315	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	115	smart00150	NULL
1756	5032315	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	74	pfam00435	NULL
1756	5032303	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	37	cd02334	NULL
1756	5032303	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	49	cd02249	NULL
1756	5032303	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	45	smart00291	NULL
1756	5032303	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	41	pfam00569	NULL
1756	5032285	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	80	cd00176	NULL
1756	5032285	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	115	smart00150	NULL
1756	5032285	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	74	pfam00435	NULL
1756	5032299	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	37	cd02334	NULL
1756	5032299	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	49	cd02249	NULL
1756	5032299	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	45	smart00291	NULL
1756	5032299	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	41	pfam00569	NULL
1756	5032313	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	58	cd00176	NULL
1756	5032313	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	50	pfam00435	NULL
1756	5032313	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	86	smart00150	NULL
1756	291490677	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	58	cd00176	NULL
1756	291490677	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	50	pfam00435	NULL
1756	291490677	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	86	smart00150	NULL
1756	5032301	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	37	cd02334	NULL
1756	5032301	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	49	cd02249	NULL
1756	5032301	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	45	smart00291	NULL
1756	5032301	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	41	pfam00569	NULL
1756	150036268	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	229	cd00176	NULL
1756	150036268	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	55	pfam00435	NULL
1756	5032295	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	99	cd00176	NULL
1756	5032295	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	244	smart00150	NULL
1756	5032295	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	88	pfam00435	NULL
1756	5032297	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	37	cd02334	NULL
1756	5032297	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	49	cd02249	NULL
1756	5032297	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	45	smart00291	NULL
1756	5032297	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	41	pfam00569	NULL
1756	5032309	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	58	cd00176	NULL
1756	5032309	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	50	pfam00435	NULL
1756	5032309	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	86	smart00150	NULL
1756	5032283	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	352	COG5069	NULL
1756	5032311	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	58	cd00176	NULL
1756	5032311	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	50	pfam00435	NULL
1756	5032311	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	86	smart00150	NULL
1756	5032305	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	37	cd02334	NULL
1756	5032305	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	49	cd02249	NULL
1756	5032305	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	45	smart00291	NULL
1756	5032305	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	41	pfam00569	NULL
1756	5032281	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	360	COG5069	NULL
1756	5032293	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	58	cd00176	NULL
1756	5032293	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	50	pfam00435	NULL
1756	5032293	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	86	smart00150	NULL
1756	5032287	Disease	p.Thr279Ala	300377.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300377	CARDIOMYOPATHY, DILATED, 3B	OMIM	356	COG5069	NULL
215	67476960	Disease	p.Glu291Lys	300371.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	3	COG1123	7262393,NP_000024
215	67476960	Disease	p.Glu291Lys	300371.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	273	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Glu291Lys	300371.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	649	COG1132	7262393,NP_000024
215	67476960	Disease	p.Glu291Lys	300371.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	80	COG4618	7262393,NP_000024
215	67476960	Disease	p.Glu291Lys	300371.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	90	COG4988	7262393,NP_000024
215	67476960	Disease	p.Glu291Lys	300371.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	431	COG4178	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	12	cd03290	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	82	cd03250	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	15	COG1121	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	62	COG1119	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	483	COG1123	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	33	cd03301	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	10	cd03214	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	10	cd03226	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	10	cd00267	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	10	cd03225	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	10	cd03235	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	17	COG1137	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	48_G	cd03291	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	4	cd03268	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	12	cd03252	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	10	cd03262	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	11	cd03223	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	11	cd03216	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	10	cd03231	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	11	cd03249	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	11	cd03293	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	11	cd03256	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	11	cd03255	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	11	cd03221	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	11	cd03247	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	11	cd03264	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	11	cd03259	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	13	cd03254	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	11	cd03297	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	11	cd03229	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	11	cd03228	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	10_G	cd03299	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	11	cd03253	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	11	cd03246	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	11	cd03230	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	11	cd03292	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	11	cd03260	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	25	COG4778	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	13	COG4136	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	15	COG1131	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	20	COG1136	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	12	COG0410	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	12	cd03257	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	12	COG2884	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	13	COG4619	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	12	cd03251	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	6	cd03300	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	14	COG1116	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	14	COG1122	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	14	cd03233	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	14	COG3638	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	14	COG1124	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	14	COG3839	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	19	cd03213	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	1072	COG1132	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	13	COG4161	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	13	cd03244	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	13	COG1120	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	379	COG4618	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	13	COG0396	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	10	cd03217	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	344	COG4988	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	16	cd03245	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	613	COG4178	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	300371.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	7	COG4608	7262393,NP_000024
215	67476960	Disease	p.Arg389Gly	300371.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	262	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg389Gly	300371.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	839	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg389Gly	300371.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	228	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg389Gly	300371.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	218	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg389Gly	300371.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	524	COG4178	7262393,NP_000024
215	67476960	Disease	p.Asn148Ser	300371.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	100	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Asn148Ser	300371.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	291	COG1132	7262393,NP_000024
215	67476960	Disease	p.Asn148Ser	300371.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	254	COG4178	7262393,NP_000024
215	67476960	Disease	p.Tyr174Asp	300371.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	126	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Tyr174Asp	300371.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	327	COG1132	7262393,NP_000024
215	67476960	Disease	p.Tyr174Asp	300371.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	280	COG4178	7262393,NP_000024
215	67476960	Disease	p.Gly266Arg	300371.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	248	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Gly266Arg	300371.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	601	COG1132	7262393,NP_000024
215	67476960	Disease	p.Gly266Arg	300371.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	13	COG4618	7262393,NP_000024
215	67476960	Disease	p.Gly266Arg	300371.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	65	COG4988	7262393,NP_000024
215	67476960	Disease	p.Gly266Arg	300371.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	406	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg401Gln	300371.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	298	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg401Gln	300371.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	867	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg401Gln	300371.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	248	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg401Gln	300371.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	233	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg401Gln	300371.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	536	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg418Trp	300371.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	332	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg418Trp	300371.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	923	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg418Trp	300371.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	265	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg418Trp	300371.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	264	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg418Trp	300371.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	553	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	43	cd03290	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	113	cd03250	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	48	COG1121	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	93	COG1119	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	517	COG1123	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	64	cd03301	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	57	cd03214	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	43	cd03226	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	98	cd00267	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	58	cd03225	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	43	cd03235	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	48	COG1137	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	78	cd03291	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	2	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	42	cd03268	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	44	cd03252	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	43	cd03262	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	57	cd03223	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	51	cd03216	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	41	cd03231	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	44	cd03249	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	48	cd03293	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	44	cd03256	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	54	cd03255	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	47	cd03221	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	43	cd03247	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	62	cd03264	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	65	cd03259	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	44	cd03254	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	51	cd03297	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	65	cd03229	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	75	cd03228	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	40	cd03299	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	62	cd03253	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	46	cd03246	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	65	cd03230	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	43	cd03292	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	45	cd03260	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	52	COG4778	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	41	cd03269	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	44	COG4136	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	70	COG1131	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	58	COG1136	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	45	COG0410	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	58	cd03257	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	44	COG2884	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	44	COG4619	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	46	cd03251	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	45	cd03300	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	47	COG4133	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	43	cd03224	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	55	cd03248	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	43	cd03219	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	50	COG1116	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	53	COG1122	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	61	cd03233	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	47	COG3638	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	55	COG1124	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	67	COG3839	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	57	cd03213	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	1223	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	43	COG4161	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	47	cd03244	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	49	COG1120	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	412	COG4618	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	53	COG0396	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	43	cd03217	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	376	COG4988	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	47	cd03245	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	19	smart00382	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	679	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	300371.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	66	COG4608	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	47	cd03290	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	116	cd03250	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	51	COG1121	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	96	COG1119	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	520	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	67	cd03301	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	60	cd03214	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	46	cd03226	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	101	cd00267	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	61	cd03225	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	46	cd03235	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	51	COG1137	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	82	cd03291	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	5	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	45	cd03268	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	47	cd03252	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	46	cd03262	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	60	cd03223	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	54	cd03216	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	44	cd03231	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	47	cd03249	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	51	cd03293	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	47	cd03256	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	57	cd03255	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	50	cd03221	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	46	cd03247	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	65	cd03264	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	68	cd03259	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	47	cd03254	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	54	cd03297	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	68	cd03229	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	78	cd03228	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	43	cd03299	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	65	cd03253	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	49	cd03246	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	68	cd03230	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	46	cd03292	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	48	cd03260	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	55	COG4778	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	44	cd03269	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	47	COG4136	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	73	COG1131	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	61	COG1136	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	48	COG0410	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	61	cd03257	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	47	COG2884	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	47	COG4619	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	49	cd03251	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	48	cd03300	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	50	COG4133	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	46	cd03224	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	58	cd03248	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	46	cd03219	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	53	COG1116	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	56	COG1122	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	64	cd03233	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	50	COG3638	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	58	COG1124	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	70	COG3839	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	60	cd03213	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	1226	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	46	COG4161	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	50	cd03244	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	52	COG1120	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	415	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	56	COG0396	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	46	cd03217	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	379	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	50	cd03245	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	23	smart00382	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	682	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	300371.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	69	COG4608	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	153	cd03290	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	253	cd03250	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	156	COG1121	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	207	COG1119	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	680	COG1123	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	200	cd03301	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	207	cd03214	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	158	cd03226	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	1271	cd00267	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	177	cd03225	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	150	cd03235	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	148	COG1137	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	161	cd03291	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	251	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	138	cd03268	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	141	cd03252	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	153	cd03262	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	227	cd03223	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	172	cd03216	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	130	cd03231	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	268	cd03249	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	178	cd03293	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	154	cd03256	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	171	cd03255	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	252	cd03221	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	146	cd03247	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	158	cd03264	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	169	cd03259	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	143	cd03254	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	151	cd03297	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	186	cd03229	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	302	cd03228	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	131	cd03299	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	160	cd03253	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	143	cd03246	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	169	cd03230	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	139	cd03292	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	168	cd03260	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	154	COG4778	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	131	cd03269	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	138	COG4136	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	195	COG1131	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	177	COG1136	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	161	COG0410	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	411	cd03257	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	140	COG2884	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	139	COG4619	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	160	cd03251	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	136	cd03300	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	140	COG4133	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	157	cd03224	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	166	cd03248	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	178	cd03219	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	156	COG1116	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	482	COG1122	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	196	cd03233	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	158	COG3638	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	251	COG1124	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	415	COG3839	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	225	cd03213	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	1386	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	144	COG4161	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	186	cd03244	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	199	COG1120	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	509	COG4618	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	211	COG0396	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	152	cd03217	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	475	COG4988	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	144	cd03245	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	249	smart00382	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	819	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	300371.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADDISON DISEASE	OMIM	746	COG4608	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	164	cd03290	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	264	cd03250	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	167	COG1121	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	218	COG1119	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	691	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	211	cd03301	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	218	cd03214	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	169	cd03226	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	1286	cd00267	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	188	cd03225	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	161	cd03235	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	159	COG1137	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	172	cd03291	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	264	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	149	cd03268	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	152	cd03252	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	164	cd03262	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	238	cd03223	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	183	cd03216	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	141	cd03231	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	279	cd03249	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	189	cd03293	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	165	cd03256	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	182	cd03255	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	263	cd03221	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	157	cd03247	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	169	cd03264	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	180	cd03259	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	154	cd03254	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	162	cd03297	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	197	cd03229	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	317	cd03228	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	142	cd03299	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	171	cd03253	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	154	cd03246	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	180	cd03230	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	150	cd03292	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	179	cd03260	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	165	COG4778	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	142	cd03269	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	149	COG4136	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	211	COG1131	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	188	COG1136	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	172	COG0410	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	422	cd03257	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	151	COG2884	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	150	COG4619	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	171	cd03251	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	147	cd03300	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	151	COG4133	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	168	cd03224	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	177	cd03248	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	189	cd03219	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	167	COG1116	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	493	COG1122	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	207	cd03233	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	169	COG3638	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	262	COG1124	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	428	COG3839	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	236	cd03213	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	1397	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	155	COG4161	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	197	cd03244	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	211	COG1120	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	520	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	222	COG0396	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	163	cd03217	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	486	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	155	cd03245	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	261	smart00382	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	830	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg617His	300371.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOMYELONEUROPATHY	OMIM	757	COG4608	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	164	cd03290	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	264	cd03250	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	167	COG1121	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	218	COG1119	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	691	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	211	cd03301	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	218	cd03214	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	169	cd03226	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	1286	cd00267	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	188	cd03225	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	161	cd03235	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	159	COG1137	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	172	cd03291	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	264	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	149	cd03268	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	152	cd03252	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	164	cd03262	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	238	cd03223	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	183	cd03216	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	141	cd03231	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	279	cd03249	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	189	cd03293	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	165	cd03256	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	182	cd03255	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	263	cd03221	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	157	cd03247	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	169	cd03264	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	180	cd03259	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	154	cd03254	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	162	cd03297	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	197	cd03229	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	317	cd03228	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	142	cd03299	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	171	cd03253	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	154	cd03246	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	180	cd03230	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	150	cd03292	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	179	cd03260	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	165	COG4778	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	142	cd03269	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	149	COG4136	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	211	COG1131	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	188	COG1136	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	172	COG0410	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	422	cd03257	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	151	COG2884	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	150	COG4619	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	171	cd03251	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	147	cd03300	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	151	COG4133	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	168	cd03224	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	177	cd03248	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	189	cd03219	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	167	COG1116	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	493	COG1122	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	207	cd03233	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	169	COG3638	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	262	COG1124	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	428	COG3839	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	236	cd03213	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	1397	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	155	COG4161	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	197	cd03244	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	211	COG1120	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	520	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	222	COG0396	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	163	cd03217	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	486	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	155	cd03245	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	261	smart00382	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	830	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	300371.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300371	ADRENOLEUKODYSTROPHY	OMIM	757	COG4608	7262393,NP_000024
1678	6014944	Disease	p.Cys66Trp	300356.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300356	MOHR-TRANEBJAERG SYNDROME	OMIM	66	pfam02953	4758152,NP_004076
1678	225543159	Disease	p.Cys66Trp	300356.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300356	MOHR-TRANEBJAERG SYNDROME	OMIM	No Domain	N/A	NULL
54413	31076855	Disease	p.Arg451Cys	300336.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300336	AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1||ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1	OMIM	398	COG2272	262359971,NP_851820
54413	31076855	Disease	p.Arg451Cys	300336.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300336	AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1||ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1	OMIM	678	pfam00135	262359971,NP_851820
54413	31076855	Disease	p.Arg451Cys	300336.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300336	AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1||ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1	OMIM	452	cd00312	262359971,NP_851820
54413	51593088	Disease	p.Arg451Cys	300336.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300336	AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1||ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1	OMIM	416	COG2272	NULL
54413	51593088	Disease	p.Arg451Cys	300336.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300336	AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1||ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1	OMIM	700	pfam00135	NULL
54413	51593088	Disease	p.Arg451Cys	300336.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300336	AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1||ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1	OMIM	481	cd00312	NULL
54413	262359974	Disease	p.Arg451Cys	300336.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300336	AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1||ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1	OMIM	436	COG2272	NULL
54413	262359974	Disease	p.Arg451Cys	300336.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300336	AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1||ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1	OMIM	722	pfam00135	NULL
54413	262359974	Disease	p.Arg451Cys	300336.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300336	AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1||ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1	OMIM	502	cd00312	NULL
50945	158187511	Disease	p.Thr260Met	300307.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	No Domain	N/A	NULL
50945	28381405	Disease	p.Thr260Met	300307.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	277	smart00425	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Thr260Met	300307.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	182	pfam00907	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Thr260Met	300307.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	192	cd00182	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Thr260Met	300307.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	277	smart00425	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Thr260Met	300307.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	182	pfam00907	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Thr260Met	300307.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	192	cd00182	158187509,NP_001103348|18375603,NP_058650
50945	158187511	Disease	p.Gly118Cys	300307.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	158	pfam00907	NULL
50945	158187511	Disease	p.Gly118Cys	300307.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	255	smart00425	NULL
50945	158187511	Disease	p.Gly118Cys	300307.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	161	cd00182	NULL
50945	28381405	Disease	p.Gly118Cys	300307.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	30	smart00425	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Gly118Cys	300307.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	26	pfam00907	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Gly118Cys	300307.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	31	cd00182	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Gly118Cys	300307.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	30	smart00425	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Gly118Cys	300307.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	26	pfam00907	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Gly118Cys	300307.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	31	cd00182	158187509,NP_001103348|18375603,NP_058650
50945	158187511	Disease	p.Leu214Pro	300307.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	No Domain	N/A	NULL
50945	28381405	Disease	p.Leu214Pro	300307.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	206	smart00425	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Leu214Pro	300307.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	132	pfam00907	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Leu214Pro	300307.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	137	cd00182	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Leu214Pro	300307.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	206	smart00425	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Leu214Pro	300307.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	132	pfam00907	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Leu214Pro	300307.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	137	cd00182	158187509,NP_001103348|18375603,NP_058650
50945	158187511	Disease	p.Asn264Tyr	300307.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	No Domain	N/A	NULL
50945	28381405	Disease	p.Asn264Tyr	300307.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	281	smart00425	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Asn264Tyr	300307.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	186	pfam00907	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Asn264Tyr	300307.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	196	cd00182	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Asn264Tyr	300307.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	281	smart00425	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Asn264Tyr	300307.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	186	pfam00907	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Asn264Tyr	300307.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300307	CLEFT PALATE WITH ANKYLOGLOSSIA	OMIM	196	cd00182	158187509,NP_001103348|18375603,NP_058650
8450	296439468	Disease	p.Arg572Cys	300304.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300304	CABEZAS SYNDROME	OMIM	653	pfam00888	121114298,NP_003579
8450	296439468	Disease	p.Arg572Cys	300304.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300304	CABEZAS SYNDROME	OMIM	477	COG5647	121114298,NP_003579
8450	121114302	Disease	p.Arg572Cys	300304.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300304	CABEZAS SYNDROME	OMIM	498	COG5647	NULL
8450	121114302	Disease	p.Arg572Cys	300304.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300304	CABEZAS SYNDROME	OMIM	694	pfam00888	NULL
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	172	cd06608	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd06642	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	132	cd07870	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd06641	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd06640	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	153	cd07865	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	133	cd07873	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	163	cd05100	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	133	cd07872	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	153	cd06638	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	144	cd06634	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	144	cd06607	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	268	cd05055	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	169	cd05098	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	124	cd05115	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	136	cd05080	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	181	cd07830	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	152	cd05035	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd05589	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	155	cd07835	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	138	cd05108	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	169	cd07829	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	142	cd05074	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	156	cd05075	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	426	smart00219	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	220	pfam00069	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	285	pfam07714	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	541	smart00221	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	139	cd06629	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	138	cd05118	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd05616	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	134	cd05583	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	138	cd07857	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	132	cd07836	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	135	cd05587	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	146	cd07841	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd07861	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	233	cd07842	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	135	cd08530	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	129	cd08219	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	136	cd06627	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	210	cd06606	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	163	cd05122	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	136	cd08222	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd08218	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	135	cd08529	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	144	cd07832	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	172	cd07834	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	156	cd05045	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	128	cd07839	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	152	cd08528	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	170	cd08217	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd05578	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	129	cd07860	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd08225	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	172	cd08215	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd08223	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	271	cd05107	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	269	cd05105	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	253	cd05104	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	144	cd06647	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	139	cd06917	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd05631	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd05605	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	132	cd08216	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd05632	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	137	cd06628	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd05612	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	152	cd06609	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	183	cd05580	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	186	cd05573	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	586	COG0515	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	144	cd06616	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd06615	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	152	cd05574	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	134	cd06617	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	177	cd06623	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	135	cd08229	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	136	cd08224	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	245	cd05581	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	135	cd08228	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	147	cd06605	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	139	cd06621	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	144	cd06622	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	135	cd07847	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	141	cd06610	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd07846	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	147	cd07837	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	147	cd06658	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	160	cd07866	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	147	cd07864	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	133	cd07844	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	132	cd07871	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd05071	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	148	cd05089	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	139	cd07849	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	149	cd05061	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	165	cd05056	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	133	cd05052	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd05067	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd05082	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd05070	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	132	cd05073	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	129	cd05083	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	132	cd05072	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	132	cd05034	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	134	cd05068	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd05069	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	135	cd05039	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	134	cd05148	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd05032	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	147	cd05036	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	148	cd05062	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	181	cd06614	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd07831	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	151	cd07833	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	431	smart00220	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	148	cd06618	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	154	cd06635	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	191	cd05057	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	135	cd06645	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	138	cd05111	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	257	cd05054	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	209	cd05103	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	207	cd05102	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	142	cd06624	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	179	cd05053	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	138	cd05109	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	167	cd05033	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	135	cd05066	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	134	cd06611	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	129	cd05114	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd05059	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	171	cd05043	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd05113	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	129	cd05112	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	132	cd06643	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	138	cd07852	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	138	cd05110	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	153	cd05088	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	157	cd05038	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	137	cd05081	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	138	cd05079	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	135	cd05065	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	251	cd05106	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	132	cd06613	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	135	cd06651	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	135	cd06625	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	159	cd06652	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	144	cd06612	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	135	cd06653	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	145	cd06648	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	146	cd05076	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	163	cd05099	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	139	cd06644	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	124	cd05116	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd05060	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	129	cd05086	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	132	cd05042	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	134	cd05087	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	124	cd05593	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	127	cd05570	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd05590	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	140	cd05592	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd05591	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	148	cd06632	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	134	cd05077	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	148	cd05037	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	338	cd00192	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd05078	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	134	cd05058	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	132	cd06630	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	139	cd05044	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd05041	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	133	cd05040	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	123	cd05085	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	123	cd05084	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd05619	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	137	cd05063	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	135	cd06620	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd05051	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	135	cd06646	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	156	cd05049	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	144	cd06656	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	144	cd06655	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	153	cd05091	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	162	cd05050	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	153	cd05090	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	136	cd05064	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	156	cd05048	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	150	cd07845	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	160	cd05097	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	170	cd05095	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	215	cd05046	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	152	cd05094	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	140	cd06637	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	149	cd05093	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd05096	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	151	cd05092	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	129	cd05577	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	133	cd06631	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	645	cd05123	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	141	cd05047	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	370	cd00180	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd08221	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd05579	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	197	cd05572	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	146	cd06659	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	145	cd06619	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd05101	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	145	cd06654	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	147	cd07843	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	155	cd07838	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	178	cd07840	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd06626	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	300300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	139	cd08220	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	38	cd06608	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	35	cd06642	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	36	cd07870	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	35	cd06641	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	35	cd06640	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	44	cd07865	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	37	cd07873	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	50	cd05100	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	37	cd07872	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	49	cd06638	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	47	cd06634	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	47	cd06607	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	73	cd05055	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	56	cd05098	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	28	cd05115	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	39	cd05080	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	63	cd07830	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	43	cd05035	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	30	cd05589	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd07835	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	42	cd05108	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd07829	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd05074	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	32	cd05075	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	102	smart00219	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	40	pfam00069	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	54	pfam07714	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	121	smart00221	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	49	cd06629	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	30	cd05118	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	31	cd05616	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	34	cd05583	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd07857	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	31	cd07836	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	31	cd05587	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd07841	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	31	cd07861	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	111	cd07842	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	31	cd08530	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd08219	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	32	cd06627	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	44	cd06606	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	46	cd05122	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	32	cd08222	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	31	cd08218	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	31	cd08529	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd07832	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	49	cd07834	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	36	cd05045	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	31	cd07839	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	41	cd08528	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	31	cd08217	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	31	cd05578	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	31	cd07860	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	28	cd08225	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	34	cd08215	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd08223	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	73	cd05107	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	73	cd05105	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	71	cd05104	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	50	cd06647	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	32	cd06917	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	36	cd05631	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	36	cd05605	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd08216	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	36	cd05632	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	31	cd06628	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	32	cd05612	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	45	cd06609	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	79	cd05580	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	57	cd05573	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	198	COG0515	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	35	cd06616	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	32	cd06615	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	39	cd05574	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	32	cd06617	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	40	cd06623	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd08229	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	34	cd08224	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	77	cd05581	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd08228	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	32	cd06605	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	34	cd06621	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	32	cd06622	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	29	cd07847	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd06610	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	32	cd07846	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	32	cd07837	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	53	cd06658	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	40	cd07866	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	38	cd07864	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	36	cd07844	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd07871	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	36	cd05071	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	35	cd05089	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	36	cd07849	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	42	cd05061	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	64	cd05056	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	37	cd05052	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	36	cd05067	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	35	cd05082	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	36	cd05070	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	36	cd05073	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	35	cd05083	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	36	cd05072	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	36	cd05034	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	36	cd05068	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	36	cd05069	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	35	cd05039	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	37	cd05148	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	73	cd05032	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	42	cd05036	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	42	cd05062	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	56	cd06614	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	30	cd07831	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	34	cd07833	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	77	smart00220	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	46	cd06618	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	57	cd06635	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	62	cd05057	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	40	cd06645	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	42	cd05111	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	43	cd05054	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	43	cd05103	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	43	cd05102	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	39	cd06624	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	50	cd05053	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	42	cd05109	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	62	cd05033	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	38	cd05066	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	37	cd06611	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	34	cd05114	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	34	cd05059	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	55	cd05043	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	34	cd05113	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	34	cd05112	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	36	cd06643	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	39	cd07852	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	42	cd05110	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	40	cd05088	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	41	cd05038	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	39	cd05081	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	39	cd05079	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	38	cd05065	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	75	cd05106	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	34	cd06613	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd06651	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd06625	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd06652	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	41	cd06612	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd06653	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	50	cd06648	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	50	cd05076	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	50	cd05099	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	43	cd06644	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	28	cd05116	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd05060	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	25	cd05086	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	31	cd05042	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	25	cd05087	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	26	cd05593	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	26	cd05570	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	26	cd05590	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	26	cd05592	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	26	cd05591	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	31	cd06632	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	34	cd05077	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	50	cd05037	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	73	cd00192	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd05078	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	36	cd05058	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	31	cd06630	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	32	cd05044	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	26	cd05041	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	30	cd05040	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	26	cd05085	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	26	cd05084	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	26	cd05619	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	40	cd05063	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	36	cd06620	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	72	cd05051	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	40	cd06646	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	41	cd05049	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	50	cd06656	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	50	cd06655	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	41	cd05091	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	41	cd05050	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	40	cd05090	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	39	cd05064	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	42	cd05048	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	38	cd07845	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	52	cd05097	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	55	cd05095	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	101	cd05046	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	41	cd05094	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	37	cd06637	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	41	cd05093	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	52	cd05096	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	41	cd05092	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	32	cd05577	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	30	cd06631	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	27	cd05123	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	28	cd05047	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	64	cd00180	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	31	cd08221	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	24	cd05579	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	73	cd05572	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	52	cd06659	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	53	cd06619	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	53	cd05101	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	51	cd06654	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	37	cd07843	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd07838	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	54	cd07840	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	32	cd06626	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	300300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd08220	4557377,NP_000052
695	547759	Disease	p.Tyr361Cys	300300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	HYPOAGAMMAGLOBULINEMIA, X-LINKED	OMIM	132	cd00173	4557377,NP_000052
695	547759	Disease	p.Tyr361Cys	300300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	HYPOAGAMMAGLOBULINEMIA, X-LINKED	OMIM	108	pfam00017	4557377,NP_000052
695	547759	Disease	p.Tyr361Cys	300300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	HYPOAGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd05106	4557377,NP_000052
695	547759	Disease	p.Tyr361Cys	300300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	HYPOAGAMMAGLOBULINEMIA, X-LINKED	OMIM	338	smart00252	4557377,NP_000052
695	547759	Disease	p.Arg28His	300300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217	cd00900	4557377,NP_000052
695	547759	Disease	p.Arg28His	300300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	38	cd00821	4557377,NP_000052
695	547759	Disease	p.Arg28His	300300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	116	smart00233	4557377,NP_000052
695	547759	Disease	p.Arg28His	300300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	44	pfam00169	4557377,NP_000052
695	547759	Disease	p.Arg28His	300300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	24	cd01238	4557377,NP_000052
695	547759	Disease	p.Met1Thr	300300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	No Domain	N/A	4557377,NP_000052
695	547759	Disease	p.Thr33Pro	300300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	222	cd00900	4557377,NP_000052
695	547759	Disease	p.Thr33Pro	300300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	43	cd00821	4557377,NP_000052
695	547759	Disease	p.Thr33Pro	300300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	129	smart00233	4557377,NP_000052
695	547759	Disease	p.Thr33Pro	300300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	49	pfam00169	4557377,NP_000052
695	547759	Disease	p.Thr33Pro	300300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	29	cd01238	4557377,NP_000052
695	547759	Disease	p.Val113Asp	300300.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	447	cd00900	4557377,NP_000052
695	547759	Disease	p.Val113Asp	300300.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	393	cd00821	4557377,NP_000052
695	547759	Disease	p.Val113Asp	300300.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	886	smart00233	4557377,NP_000052
695	547759	Disease	p.Val113Asp	300300.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	276	pfam00169	4557377,NP_000052
695	547759	Disease	p.Val113Asp	300300.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd01238	4557377,NP_000052
695	547759	Disease	p.Arg288Trp	300300.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd00173	4557377,NP_000052
695	547759	Disease	p.Arg288Trp	300300.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	pfam00017	4557377,NP_000052
695	547759	Disease	p.Arg288Trp	300300.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	19	smart00252	4557377,NP_000052
695	547759	Disease	p.Arg307Gly	300300.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	44	cd00173	4557377,NP_000052
695	547759	Disease	p.Arg307Gly	300300.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	37	pfam00017	4557377,NP_000052
695	547759	Disease	p.Arg307Gly	300300.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	61	smart00252	4557377,NP_000052
695	547759	Disease	p.Tyr334Ser	300300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	88	cd00173	4557377,NP_000052
695	547759	Disease	p.Tyr334Ser	300300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	72	pfam00017	4557377,NP_000052
695	547759	Disease	p.Tyr334Ser	300300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	226	smart00252	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd06608	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	12	cd06642	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd07870	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	12	cd06641	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	12	cd06640	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	11	cd07865	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd07873	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	20	cd05100	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd07872	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	26	cd06638	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	23	cd06634	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	23	cd06607	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	45	cd05055	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	26	cd05098	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05115	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	12	cd05080	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	7	cd07830	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	7	cd05035	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	7	cd05589	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	7	cd07835	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	15	cd05108	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd07829	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	7	cd05074	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	7	cd05075	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	7	smart00219	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	7	pfam00069	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	11	pfam07714	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	7	smart00221	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd06629	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	7	cd05118	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd05616	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd05583	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd07857	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd07836	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd05587	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	9	cd07841	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd07861	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	9	cd07842	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd08530	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd08219	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	9	cd06627	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	15	cd06606	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	15	cd05122	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd08222	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd08218	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd08529	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd07832	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	10	cd07834	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd05045	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd07839	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd08528	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd08217	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd05578	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd07860	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd08225	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd08215	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd08223	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	45	cd05107	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	45	cd05105	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	43	cd05104	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	27	cd06647	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	6	cd06917	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd05631	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd05605	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	6	cd08216	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd05632	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd06628	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	9	cd05612	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	10	cd06609	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	9	cd05580	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	9	cd05573	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	47	COG0515	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	12	cd06616	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	9	cd06615	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	12	cd05574	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	9	cd06617	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd06623	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	10	cd08229	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	10	cd08224	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	16	cd05581	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	10	cd08228	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	9	cd06605	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	9	cd06621	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	9	cd06622	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	9	cd07847	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	9	cd06610	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	9	cd07846	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	9	cd07837	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	30	cd06658	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	17	cd07866	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	15	cd07864	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd07844	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd07871	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd05071	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	10	cd05089	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd07849	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd05061	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd05056	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd05052	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd05067	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd05082	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd05070	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd05073	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd05083	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd05072	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd05034	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd05068	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd05069	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd05039	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd05148	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	16	cd05032	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd05036	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	14	cd05062	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	28	cd06614	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	7	cd07831	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	9	cd07833	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	23	cd06618	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	33	cd06635	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	26	cd05057	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	17	cd06645	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	15	cd05111	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	15	cd05054	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	15	cd05103	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	15	cd05102	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	16	cd06624	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	20	cd05053	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	15	cd05109	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	12	cd05033	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	12	cd05066	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd06611	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	12	cd05114	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	12	cd05059	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	15	cd05043	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	12	cd05113	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	12	cd05112	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd06643	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	15	cd07852	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	15	cd05110	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	15	cd05088	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd05038	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	12	cd05081	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	12	cd05079	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	12	cd05065	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	46	cd05106	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	11	cd06613	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	10	cd06651	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	10	cd06625	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	10	cd06652	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	11	cd06612	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	10	cd06653	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	27	cd06648	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	21	cd05076	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	20	cd05099	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	20	cd06644	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05116	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05060	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05086	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05042	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05087	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05593	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05570	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05590	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05592	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05591	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd06632	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05077	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05037	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd00192	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05078	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05058	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd06630	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05044	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05041	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05040	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05085	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05084	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	3	cd05619	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd05063	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd06620	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	21	cd05051	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	17	cd06646	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd05049	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	27	cd06656	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	27	cd06655	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd05091	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd05050	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd05090	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd05064	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd05048	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	15	cd07845	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd05097	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd05095	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd05046	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd05094	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd06637	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd05093	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd05096	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	13	cd05092	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	29	cd06659	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	31	cd06619	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	23	cd05101	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	28	cd06654	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	7	cd07838	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	11	cd07840	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	9	cd06626	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	300300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	8	cd08220	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	153	cd06608	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	111	cd06642	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	113	cd07870	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	111	cd06641	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	111	cd06640	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	134	cd07865	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	114	cd07873	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	144	cd05100	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	114	cd07872	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd06638	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd06634	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd06607	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	249	cd05055	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	150	cd05098	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	105	cd05115	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	117	cd05080	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	162	cd07830	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	133	cd05035	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	111	cd05589	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	136	cd07835	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	119	cd05108	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	150	cd07829	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	123	cd05074	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	137	cd05075	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	394	smart00219	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	pfam00069	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	264	pfam07714	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	471	smart00221	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	120	cd06629	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	119	cd05118	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	111	cd05616	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	115	cd05583	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	120	cd07857	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	113	cd07836	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	116	cd05587	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	127	cd07841	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	112	cd07861	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	214	cd07842	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	116	cd08530	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	110	cd08219	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	117	cd06627	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd06606	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	143	cd05122	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	117	cd08222	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	111	cd08218	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	117_G	cd08529	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd07832	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	153_G	cd07834	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	137	cd05045	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	109	cd07839	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	132	cd08528	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	115	cd08217	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	111	cd05578	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	110	cd07860	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	111	cd08225	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	148	cd08215	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	112	cd08223	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	252	cd05107	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	250	cd05105	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	234	cd05104	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd06647	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	120	cd06917	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	112	cd05631	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	112	cd05605	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	113	cd08216	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	112	cd05632	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	118	cd06628	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	111	cd05612	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	133	cd06609	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	163	cd05580	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	167_G	cd05573	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	480	COG0515	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	124	cd06616	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	111	cd06615	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	133	cd05574	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	114	cd06617	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	145	cd06623	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	116	cd08229	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	117	cd08224	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	226	cd05581	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	116	cd08228	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	127	cd06605	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	120	cd06621	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	124	cd06622	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	110	cd07847	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	122	cd06610	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	111	cd07846	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	128	cd07837	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	128	cd06658	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	141	cd07866	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	128	cd07864	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	114	cd07844	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	113	cd07871	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	112	cd05071	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	129	cd05089	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	112	cd07849	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd05061	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	146	cd05056	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	114	cd05052	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	112	cd05067	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	112	cd05082	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	112	cd05070	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	113	cd05073	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	110	cd05083	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	113	cd05072	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	113	cd05034	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	115	cd05068	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	112	cd05069	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	116	cd05039	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	115	cd05148	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	174	cd05032	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	128	cd05036	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	129	cd05062	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	160	cd06614	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	111	cd07831	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	132	cd07833	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	378	smart00220	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	128	cd06618	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	135	cd06635	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	171	cd05057	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	116	cd06645	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	119	cd05111	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	238	cd05054	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd05103	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	144	cd05102	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	123	cd06624	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	160	cd05053	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	119	cd05109	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	143	cd05033	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	116	cd05066	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	115	cd06611	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	110	cd05114	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	112	cd05059	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	152	cd05043	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	111	cd05113	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	110	cd05112	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	113	cd06643	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	119_G	cd07852	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	119	cd05110	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	134	cd05088	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	138	cd05038	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	118	cd05081	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	119	cd05079	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	116	cd05065	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	232	cd05106	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	113	cd06613	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	116	cd06651	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	116_G	cd06625	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	140	cd06652	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd06612	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	116	cd06653	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	126	cd06648	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	127	cd05076	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	144	cd05099	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	120	cd06644	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	105	cd05116	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	112	cd05060	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	107	cd05086	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	113	cd05042	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	115	cd05087	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	105	cd05593	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	108	cd05570	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	106	cd05590	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	106	cd05592	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	106	cd05591	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	129_G	cd06632	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	115	cd05077	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	129	cd05037	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	317	cd00192	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	112	cd05078	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	115	cd05058	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	113	cd06630	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	120	cd05044	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	106	cd05041	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	114	cd05040	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	104	cd05085	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	104	cd05084	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	106	cd05619	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	118	cd05063	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	115	cd06620	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	171	cd05051	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	116	cd06646	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	137	cd05049	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd06656	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd06655	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	134	cd05091	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	143	cd05050	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	134	cd05090	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	117	cd05064	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	137	cd05048	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd07845	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	141	cd05097	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	151	cd05095	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	196	cd05046	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	133	cd05094	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	121	cd06637	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd05093	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd05096	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	132	cd05092	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	110	cd05577	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	114_G	cd06631	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	625	cd05123	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	122	cd05047	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	340	cd00180	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	112	cd08221	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	106_G	cd05579	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	177	cd05572	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	127	cd06659	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	126	cd06619	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	147	cd05101	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	126	cd06654	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	128	cd07843	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	136	cd07838	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	159	cd07840	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	112_G	cd06626	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	300300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	120	cd08220	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	167	cd06608	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd06642	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	127	cd07870	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd06641	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd06640	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	148	cd07865	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	128	cd07873	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	158	cd05100	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	128	cd07872	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	148	cd06638	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	139	cd06634	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	139	cd06607	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	263	cd05055	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	164	cd05098	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	119	cd05115	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd05080	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd07830	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	147	cd05035	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd05589	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	150	cd07835	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	133	cd05108	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	164	cd07829	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	137	cd05074	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	151	cd05075	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	421	smart00219	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	215	pfam00069	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	280	pfam07714	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	536	smart00221	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	134	cd06629	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	133	cd05118	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd05616	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	129	cd05583	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	133	cd07857	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	127	cd07836	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd05587	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	141	cd07841	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	126	cd07861	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	228	cd07842	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd08530	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	124	cd08219	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd06627	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	205	cd06606	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	158	cd05122	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd08222	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd08218	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd08529	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	139	cd07832	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	167	cd07834	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	151	cd05045	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	123	cd07839	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	147	cd08528	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	156	cd08217	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd05578	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	124	cd07860	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd08225	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	167	cd08215	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	126	cd08223	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	266	cd05107	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	264	cd05105	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	248	cd05104	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	139	cd06647	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	134	cd06917	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	126	cd05631	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	126	cd05605	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	127	cd08216	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	126	cd05632	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	132	cd06628	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd05612	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	147	cd06609	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	178	cd05580	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	181	cd05573	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	556	COG0515	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	139	cd06616	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	126	cd06615	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	147	cd05574	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	129	cd06617	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	172	cd06623	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd08229	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd08224	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	240	cd05581	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd08228	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	142	cd06605	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	134	cd06621	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	139	cd06622	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd07847	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	136	cd06610	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd07846	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	142	cd07837	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	142	cd06658	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	155	cd07866	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	142	cd07864	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	128	cd07844	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	127	cd07871	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	126	cd05071	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	143	cd05089	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	134	cd07849	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	144	cd05061	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	160	cd05056	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	128	cd05052	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	126	cd05067	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	126	cd05082	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	126	cd05070	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	127	cd05073	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	124	cd05083	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	127	cd05072	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	127	cd05034	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	129	cd05068	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	126	cd05069	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd05039	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	129	cd05148	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd05032	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	142	cd05036	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	143	cd05062	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd06614	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd07831	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	146	cd07833	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	426	smart00220	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	143	cd06618	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	149	cd06635	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	186	cd05057	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd06645	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	133	cd05111	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	252	cd05054	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	204	cd05103	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	202	cd05102	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	137	cd06624	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	174	cd05053	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	133	cd05109	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	162	cd05033	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd05066	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	129	cd06611	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	124	cd05114	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	126	cd05059	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd05043	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	125	cd05113	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	124	cd05112	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	127	cd06643	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	133	cd07852	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	133	cd05110	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	148	cd05088	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	152	cd05038	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	132	cd05081	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	133	cd05079	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd05065	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	246	cd05106	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	127	cd06613	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd06651	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd06625	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	154	cd06652	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	139	cd06612	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd06653	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	140	cd06648	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	141	cd05076	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	158	cd05099	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	134	cd06644	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	119	cd05116	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	126	cd05060	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	124	cd05086	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	127	cd05042	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	129	cd05087	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	119	cd05593	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	122	cd05570	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	120	cd05590	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	135	cd05592	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	120	cd05591	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	143	cd06632	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	129	cd05077	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	143	cd05037	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	333	cd00192	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	126	cd05078	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	129	cd05058	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	127	cd06630	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	134	cd05044	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	120	cd05041	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	128	cd05040	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	118	cd05085	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	118	cd05084	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	120	cd05619	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	132	cd05063	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd06620	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd05051	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	130	cd06646	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	151	cd05049	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	139	cd06656	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	139	cd06655	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	148	cd05091	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	157	cd05050	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	148	cd05090	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	131	cd05064	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	151	cd05048	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	145	cd07845	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	155	cd05097	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	165	cd05095	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	210	cd05046	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	147	cd05094	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	135	cd06637	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	144	cd05093	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	180	cd05096	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	146	cd05092	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	124	cd05577	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	128	cd06631	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	640	cd05123	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	136	cd05047	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	365	cd00180	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	126	cd08221	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	120	cd05579	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	192	cd05572	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	141	cd06659	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	140	cd06619	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	161	cd05101	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	140	cd06654	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	142	cd07843	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	150	cd07838	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	173	cd07840	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	126	cd06626	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	300300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	134	cd08220	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	189	cd06608	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	147	cd06642	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	149	cd07870	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	147	cd06641	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	147	cd06640	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	170	cd07865	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	150	cd07873	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	180	cd05100	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	150	cd07872	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	170	cd06638	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	161	cd06634	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	161	cd06607	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	285	cd05055	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	186	cd05098	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	141	cd05115	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	153	cd05080	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	222	cd07830	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	169	cd05035	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	147	cd05589	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	173	cd07835	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	155	cd05108	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	196	cd07829	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	159	cd05074	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	173	cd05075	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	459	smart00219	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	257	pfam00069	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	321	pfam07714	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	624	smart00221	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	156	cd06629	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	155	cd05118	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	147	cd05616	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	151	cd05583	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	155	cd07857	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	149	cd07836	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	152	cd05587	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	163	cd07841	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	148	cd07861	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	256	cd07842	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	155	cd08530	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	146	cd08219	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	156	cd06627	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	236	cd06606	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	181	cd05122	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	152	cd08222	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	147	cd08218	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	152	cd08529	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	166	cd07832	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	192	cd07834	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	173	cd05045	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	145	cd07839	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	169	cd08528	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	217	cd08217	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	147	cd05578	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	146	cd07860	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	148	cd08225	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	206	cd08215	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	148	cd08223	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	288	cd05107	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	286	cd05105	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	270	cd05104	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	161	cd06647	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	157	cd06917	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	148	cd05631	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	148	cd05605	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	149	cd08216	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	148	cd05632	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	154	cd06628	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	147	cd05612	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	170	cd06609	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	200	cd05580	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	203	cd05573	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	666	COG0515	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	161	cd06616	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	148	cd06615	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	169	cd05574	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	151	cd06617	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	195	cd06623	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	152	cd08229	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	153	cd08224	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	262	cd05581	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	152	cd08228	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	165	cd06605	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	156	cd06621	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	162	cd06622	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	152	cd07847	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	158	cd06610	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	147	cd07846	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	165	cd07837	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	164	cd06658	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	177	cd07866	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	164	cd07864	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	150	cd07844	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	149	cd07871	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	148	cd05071	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	165	cd05089	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	156	cd07849	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	166	cd05061	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	182	cd05056	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	150	cd05052	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	148	cd05067	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	148	cd05082	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	148	cd05070	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	149	cd05073	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	146	cd05083	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	149	cd05072	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	153	cd05034	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	151	cd05068	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	148	cd05069	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	152	cd05039	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	151	cd05148	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	210	cd05032	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	167	cd05036	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	165	cd05062	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	202	cd06614	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	153	cd07831	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	173	cd07833	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	531	smart00220	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	165	cd06618	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	171	cd06635	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	208	cd05057	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	152	cd06645	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	155	cd05111	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	274	cd05054	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	226	cd05103	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	224	cd05102	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	160	cd06624	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	196	cd05053	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	155	cd05109	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	184	cd05033	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	152	cd05066	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	151	cd06611	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	146	cd05114	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	148	cd05059	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	191	cd05043	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	147	cd05113	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	146	cd05112	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	149	cd06643	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	155	cd07852	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	155	cd05110	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	170	cd05088	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	178	cd05038	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	154	cd05081	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	155	cd05079	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	152	cd05065	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	268	cd05106	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	149	cd06613	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	152	cd06651	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	152	cd06625	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	176	cd06652	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	161	cd06612	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	152	cd06653	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	162	cd06648	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	170	cd05076	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	180	cd05099	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	156	cd06644	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	141	cd05116	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	148	cd05060	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	146	cd05086	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	149	cd05042	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	151	cd05087	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	141	cd05593	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	144	cd05570	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	142	cd05590	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	157	cd05592	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	142	cd05591	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	165	cd06632	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	158	cd05077	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	173	cd05037	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	366	cd00192	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	156	cd05078	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	151	cd05058	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	150	cd06630	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	163	cd05044	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	142	cd05041	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	154	cd05040	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	140	cd05085	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	140	cd05084	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	142	cd05619	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	154	cd05063	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	152	cd06620	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	211	cd05051	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	152	cd06646	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	178	cd05049	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	161	cd06656	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	161	cd06655	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	170	cd05091	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	179	cd05050	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	170	cd05090	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	154	cd05064	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	173	cd05048	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	167	cd07845	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	177	cd05097	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	187	cd05095	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	232	cd05046	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	169	cd05094	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	157	cd06637	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	166	cd05093	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	213	cd05096	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	168	cd05092	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	146	cd05577	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	150	cd06631	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	662	cd05123	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	158	cd05047	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	446	cd00180	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	148	cd08221	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	142	cd05579	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	214	cd05572	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	163	cd06659	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	162	cd06619	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	183	cd05101	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	162	cd06654	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	165	cd07843	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	173	cd07838	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	196	cd07840	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	149	cd06626	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	300300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III	OMIM	157	cd08220	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208_G	cd06608	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166_G	cd06642	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168	cd07870	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166_G	cd06641	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166_G	cd06640	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd07865	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	169	cd07873	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd05100	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	169	cd07872	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	189_G	cd06638	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176_G	cd06634	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176_G	cd06607	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	306	cd05055	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	207	cd05098	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	163	cd05115	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	175	cd05080	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	239	cd07830	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd05035	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd05589	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	192	cd07835	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd05108	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	218	cd07829	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	180	cd05074	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	194	cd05075	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	552	smart00219	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	294	pfam00069	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	347	pfam07714	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	758	smart00221	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	178_G	cd06629	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd05118	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd05616	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	172	cd05583	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	181	cd07857	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168	cd07836	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	171	cd05587	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd07841	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	167	cd07861	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	282	cd07842	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	173_G	cd08530	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	167_G	cd08219	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208_G	cd06627	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	281	cd06606	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	205_G	cd05122	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	171_G	cd08222	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	167	cd08218	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	172	cd08529	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	186	cd07832	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	243	cd07834	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	194	cd05045	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	164	cd07839	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd08528	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	237	cd08217	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	170_G	cd05578	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	165	cd07860	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168	cd08225	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	233_G	cd08215	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168	cd08223	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	309	cd05107	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	307	cd05105	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	291	cd05104	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	180_G	cd06647	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	170	cd06917	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd05631	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd05605	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd08216	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd05632	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	181	cd06628	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166_G	cd05612	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	194_G	cd06609	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	229_G	cd05580	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	232	cd05573	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	802	COG0515	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd06616	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	165	cd06615	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	189	cd05574	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	169	cd06617	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217_G	cd06623	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	172	cd08229	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	173	cd08224	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	394	cd05581	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	172	cd08228	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd06605	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	174_G	cd06621	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd06622	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	172_G	cd07847	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	179	cd06610	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd07846	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	184	cd07837	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	183_G	cd06658	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	213	cd07866	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd07864	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	169	cd07844	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168	cd07871	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168	cd05071	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	183	cd05089	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd07849	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	187	cd05061	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	204	cd05056	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	170	cd05052	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168	cd05067	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	164	cd05082	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168	cd05070	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	169	cd05073	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	162	cd05083	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	169	cd05072	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	179	cd05034	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	174	cd05068	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168	cd05069	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	171	cd05039	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	171	cd05148	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	231	cd05032	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	189	cd05036	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	186	cd05062	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219_G	cd06614	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	170	cd07831	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	212	cd07833	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	667	smart00220	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	189	cd06618	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	186_G	cd06635	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	230	cd05057	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	171_G	cd06645	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd05111	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	296	cd05054	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	247	cd05103	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	245	cd05102	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	179	cd06624	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217	cd05053	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd05109	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	210	cd05033	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	174	cd05066	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	170_G	cd06611	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd05114	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168	cd05059	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	212	cd05043	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	167	cd05113	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd05112	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168_G	cd06643	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	192	cd07852	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd05110	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd05088	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	200	cd05038	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd05081	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	177	cd05079	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd05065	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	289	cd05106	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168_G	cd06613	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	174	cd06651	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	174_G	cd06625	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	198	cd06652	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	181_G	cd06612	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	174	cd06653	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	181_G	cd06648	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd05076	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd05099	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	175_G	cd06644	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	163	cd05116	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	170	cd05060	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	167	cd05086	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	171	cd05042	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	172	cd05087	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	160	cd05593	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	163	cd05570	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	161	cd05590	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	178	cd05592	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	161	cd05591	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	187_G	cd06632	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	173	cd05077	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd05037	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	396	cd00192	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	171_G	cd05078	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	174	cd05058	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	174	cd06630	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	184	cd05044	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	163	cd05041	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	178	cd05040	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	160	cd05085	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	161	cd05084	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	161	cd05619	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd05063	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd06620	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	237	cd05051	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	171_G	cd06646	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	199	cd05049	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	180_G	cd06656	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	180_G	cd06655	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	191	cd05091	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	200	cd05050	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	191	cd05090	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	174	cd05064	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	194	cd05048	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd07845	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	198	cd05097	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208	cd05095	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	252	cd05046	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	197	cd05094	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd06637	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	187	cd05093	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	234	cd05096	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	189	cd05092	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	165	cd05577	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	175	cd06631	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	736_G	cd05123	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd05047	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	625	cd00180	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	170	cd08221	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	390	cd05579	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	228_G	cd05572	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	182_G	cd06659	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	179_G	cd06619	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	204	cd05101	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	181_G	cd06654	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd07843	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	200	cd07838	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	228	cd07840	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	194	cd06626	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	300300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd08220	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	237	cd06608	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd06642	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd07870	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd06641	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd06640	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	215	cd07865	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	189	cd07873	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	220	cd05100	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	189	cd07872	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	213	cd06638	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	198	cd06634	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	198	cd06607	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	325	cd05055	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	226	cd05098	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	182	cd05115	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	194	cd05080	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	260	cd07830	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	209	cd05035	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd05589	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	212	cd07835	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	195	cd05108	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	239	cd07829	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	199	cd05074	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	213	cd05075	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	573	smart00219	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	336	pfam00069	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	381	pfam07714	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	839	smart00221	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	200	cd06629	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	197	cd05118	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd05616	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd05583	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	202	cd07857	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd07836	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd05587	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	222	cd07841	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	187	cd07861	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	300	cd07842	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	192	cd08530	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	184	cd08219	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	229	cd06627	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	330	cd06606	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	229	cd05122	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd08222	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd08218	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd08529	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	207	cd07832	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	273	cd07834	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	213	cd05045	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	184	cd07839	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	207	cd08528	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	257	cd08217	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	195	cd05578	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd07860	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	186	cd08225	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	253	cd08215	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	186	cd08223	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	328	cd05107	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	326	cd05105	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	310	cd05104	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	199	cd06647	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	198	cd06917	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd05631	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd05605	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	197	cd08216	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd05632	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	200	cd06628	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	182	cd05612	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	215	cd06609	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	247	cd05580	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	329	cd05573	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	876	COG0515	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	202	cd06616	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	184	cd06615	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	281	cd05574	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	192	cd06617	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	243	cd06623	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd08229	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	191	cd08224	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	435	cd05581	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd08228	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208	cd06605	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd06621	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	209	cd06622	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	192	cd07847	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208	cd06610	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	187	cd07846	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	204	cd07837	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	202	cd06658	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	234	cd07866	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	205	cd07864	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	189	cd07844	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd07871	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	187	cd05071	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	202	cd05089	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	209	cd07849	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	206	cd05061	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	223	cd05056	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	189	cd05052	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	187	cd05067	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	183	cd05082	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	187	cd05070	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd05073	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	181	cd05083	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd05072	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	198	cd05034	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd05068	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	187	cd05069	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd05039	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd05148	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	250	cd05032	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208	cd05036	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	205	cd05062	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	238	cd06614	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	191	cd07831	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	244	cd07833	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	778	smart00220	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	207	cd06618	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208	cd06635	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	249	cd05057	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd06645	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	195	cd05111	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	315	cd05054	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	266	cd05103	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	264	cd05102	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	200	cd06624	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	236	cd05053	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	195	cd05109	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	229	cd05033	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd05066	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	194	cd06611	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd05114	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	187	cd05059	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	231	cd05043	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	186	cd05113	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd05112	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	192	cd06643	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	213	cd07852	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	195	cd05110	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	207	cd05088	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	222	cd05038	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	195	cd05081	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	196	cd05079	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	195	cd05065	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	308	cd05106	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd06613	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd06651	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	194	cd06625	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217	cd06652	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	204	cd06612	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd06653	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	200	cd06648	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	206	cd05076	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	220	cd05099	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	199	cd06644	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	182	cd05116	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	189	cd05060	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd05086	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	197	cd05042	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	198	cd05087	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	179	cd05593	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	182	cd05570	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	180	cd05590	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	196	cd05592	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	180	cd05591	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	210	cd06632	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd05077	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	215	cd05037	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	422	cd00192	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	191	cd05078	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd05058	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd06630	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	203	cd05044	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	182	cd05041	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	197	cd05040	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	179	cd05085	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	180	cd05084	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	180	cd05619	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	195	cd05063	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd06620	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	256	cd05051	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd06646	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	218	cd05049	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	199	cd06656	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	199	cd06655	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	210	cd05091	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219	cd05050	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	210	cd05090	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd05064	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	213	cd05048	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208	cd07845	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217	cd05097	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	227	cd05095	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	271	cd05046	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	216	cd05094	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	200	cd06637	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	206	cd05093	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	253	cd05096	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208	cd05092	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd05577	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	194	cd06631	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	796	cd05123	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	195	cd05047	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	669	cd00180	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd08221	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	728	cd05579	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	255	cd05572	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd06659	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	198	cd06619	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	223	cd05101	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	200	cd06654	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208	cd07843	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	233	cd07838	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	284	cd07840	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	231	cd06626	4557377,NP_000052
695	547759	Disease	p.Tyr581Arg	300300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	194	cd08220	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	245	cd06608	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd06642	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	196	cd07870	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd06641	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd06640	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	223	cd07865	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	197	cd07873	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	228	cd05100	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	197	cd07872	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	221	cd06638	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	206	cd06634	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	206	cd06607	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	333	cd05055	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	234	cd05098	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd05115	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	202	cd05080	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	268	cd07830	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217	cd05035	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd05589	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	233	cd07835	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	203	cd05108	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	247	cd07829	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	207	cd05074	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	221	cd05075	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	582	smart00219	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	344	pfam00069	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	389	pfam07714	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	858	smart00221	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208	cd06629	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	205	cd05118	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd05616	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd05583	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	210	cd07857	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	196	cd07836	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	198	cd05587	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	234	cd07841	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	195	cd07861	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	308	cd07842	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	200	cd08530	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	192	cd08219	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	237	cd06627	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	338	cd06606	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	237	cd05122	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	198	cd08222	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd08218	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	198	cd08529	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	215	cd07832	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	281	cd07834	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	221	cd05045	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	192	cd07839	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	215	cd08528	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	265	cd08217	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	203	cd05578	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd07860	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	194	cd08225	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	261	cd08215	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	194	cd08223	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	336	cd05107	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	334	cd05105	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	318	cd05104	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	207	cd06647	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	206	cd06917	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd05631	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd05605	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	229	cd08216	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd05632	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208	cd06628	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd05612	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	244	cd06609	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	272	cd05580	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	337	cd05573	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	918	COG0515	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	210	cd06616	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	192	cd06615	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	289	cd05574	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	200	cd06617	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	251	cd06623	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	198	cd08229	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	199	cd08224	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	443	cd05581	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	198	cd08228	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	216	cd06605	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd06621	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217	cd06622	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	200	cd07847	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	216	cd06610	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	195	cd07846	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	212	cd07837	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	210	cd06658	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	242	cd07866	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	213	cd07864	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	197	cd07844	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	196	cd07871	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	195	cd05071	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	210	cd05089	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217	cd07849	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	214	cd05061	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	231	cd05056	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	197	cd05052	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	195	cd05067	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	191	cd05082	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	195	cd05070	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	196	cd05073	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	189	cd05083	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	196	cd05072	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	206	cd05034	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd05068	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	195	cd05069	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	198	cd05039	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	198	cd05148	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	258	cd05032	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	216	cd05036	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	213	cd05062	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	246	cd06614	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	199	cd07831	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	252	cd07833	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	786	smart00220	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	215	cd06618	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	216	cd06635	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	257	cd05057	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd06645	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	203	cd05111	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	323	cd05054	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	274	cd05103	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	272	cd05102	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208	cd06624	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	244	cd05053	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	203	cd05109	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	237	cd05033	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd05066	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	202	cd06611	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd05114	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	195	cd05059	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	239	cd05043	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	194	cd05113	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd05112	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	200	cd06643	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	221	cd07852	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	203	cd05110	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	215	cd05088	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	230	cd05038	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	203	cd05081	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	204	cd05079	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	203	cd05065	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	316	cd05106	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd06613	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd06651	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	202	cd06625	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	225	cd06652	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	212	cd06612	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd06653	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208	cd06648	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	214	cd05076	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	228	cd05099	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	207	cd06644	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd05116	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	197	cd05060	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd05086	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	205	cd05042	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	206	cd05087	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	187	cd05593	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd05570	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd05590	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	204	cd05592	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd05591	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	221	cd06632	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd05077	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	223	cd05037	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	430	cd00192	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	199	cd05078	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd05058	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd06630	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	211	cd05044	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd05041	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	205	cd05040	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	187	cd05085	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd05084	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd05619	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	203	cd05063	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	198	cd06620	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	264	cd05051	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd06646	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	226	cd05049	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	207	cd06656	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	207	cd06655	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	218	cd05091	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	227	cd05050	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	218	cd05090	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd05064	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	221	cd05048	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	216	cd07845	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	225	cd05097	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	235	cd05095	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	279	cd05046	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	224	cd05094	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208	cd06637	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	214	cd05093	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	261	cd05096	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	216	cd05092	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	193	cd05577	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	202	cd06631	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	804	cd05123	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	203	cd05047	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	677	cd00180	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	196	cd08221	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	736	cd05579	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	263	cd05572	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	209	cd06659	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	206	cd06619	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	231	cd05101	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208	cd06654	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	251	cd07843	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	241	cd07838	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	292	cd07840	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	239	cd06626	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	300300.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	202	cd08220	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	262	cd06608	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	210	cd06642	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	214	cd07870	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	210	cd06641	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	210	cd06640	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	273	cd07865	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	244	cd07873	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	247	cd05100	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	244	cd07872	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	238	cd06638	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	225	cd06634	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	223	cd06607	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	352	cd05055	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	252	cd05098	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208	cd05115	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	224	cd05080	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	325	cd07830	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	235	cd05035	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	210	cd05589	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	251	cd07835	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	221	cd05108	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	295	cd07829	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	225	cd05074	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	239	cd05075	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	644	smart00219	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	378	pfam00069	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	431	pfam07714	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	942	smart00221	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219	cd06629	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	242	cd05118	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	226	cd05616	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	222	cd05583	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	242	cd07857	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	213	cd07836	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	215	cd05587	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	268	cd07841	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208_G	cd07861	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	376	cd07842	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217	cd08530	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	209	cd08219	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	254	cd06627	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	362	cd06606	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	296	cd05122	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	215	cd08222	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	210	cd08218	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	216	cd08529	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	270	cd07832	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	358	cd07834	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	239	cd05045	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	207	cd07839	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	232	cd08528	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	283	cd08217	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	220	cd05578	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	239	cd07860	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	211	cd08225	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	281	cd08215	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	211	cd08223	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	355	cd05107	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	353	cd05105	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	337	cd05104	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	224	cd06647	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	223	cd06917	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	210	cd05631	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	214	cd05605	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	275	cd08216	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	214	cd05632	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	225	cd06628	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	227	cd05612	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	298	cd06609	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	295	cd05580	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	356	cd05573	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	992	COG0515	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	227	cd06616	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219	cd06615	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	319	cd05574	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	240	cd06617	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	278	cd06623	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217	cd08229	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219	cd08224	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	463	cd05581	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217	cd08228	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	278	cd06605	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	226	cd06621	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	234	cd06622	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	239	cd07847	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	233	cd06610	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	243	cd07846	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	241	cd07837	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	227	cd06658	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	305	cd07866	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	228	cd07864	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	239	cd07844	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	243	cd07871	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	213	cd05071	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	228	cd05089	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	258	cd07849	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	232	cd05061	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	249	cd05056	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	215	cd05052	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	239	cd05067	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	209	cd05082	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	213	cd05070	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	214	cd05073	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	207	cd05083	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	214	cd05072	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	224	cd05034	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219	cd05068	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	213	cd05069	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	216	cd05039	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	248	cd05148	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	276	cd05032	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	234	cd05036	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	231	cd05062	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	263	cd06614	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	242	cd07831	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	324	cd07833	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	878	smart00220	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	233	cd06618	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	233	cd06635	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	275	cd05057	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217	cd06645	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	221	cd05111	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	342	cd05054	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	293	cd05103	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	291	cd05102	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	225	cd06624	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	263	cd05053	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	221	cd05109	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	255	cd05033	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219	cd05066	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	213_G	cd06611	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	211	cd05114	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	213	cd05059	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	257	cd05043	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	212	cd05113	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	211	cd05112	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217	cd06643	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	263	cd07852	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	221	cd05110	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	233	cd05088	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	274	cd05038	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	236	cd05081	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	236	cd05079	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	221	cd05065	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	335	cd05106	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	212_G	cd06613	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	218	cd06651	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219	cd06625	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	242	cd06652	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	229	cd06612	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	218	cd06653	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	225	cd06648	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	232	cd05076	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	246	cd05099	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	224	cd06644	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208	cd05116	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	215	cd05060	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219	cd05086	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	223	cd05042	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	224	cd05087	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	222	cd05593	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	214	cd05570	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	205	cd05590	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	221	cd05592	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	205	cd05591	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	236	cd06632	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219	cd05077	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	244	cd05037	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	462	cd00192	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217	cd05078	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219	cd05058	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	215	cd06630	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	229	cd05044	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208	cd05041	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	223	cd05040	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	205	cd05085	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	206	cd05084	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	205	cd05619	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	221	cd05063	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	212	cd06620	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	302	cd05051	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	222	cd06646	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	244	cd05049	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	224	cd06656	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	224	cd06655	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	236	cd05091	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	245	cd05050	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	236	cd05090	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219	cd05064	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	239	cd05048	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	289	cd07845	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	244	cd05097	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	254	cd05095	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	298	cd05046	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	295	cd05094	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	225	cd06637	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	232	cd05093	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	280	cd05096	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	234	cd05092	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	214	cd05577	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219	cd06631	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	830	cd05123	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	221	cd05047	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	695	cd00180	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	213	cd08221	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	768	cd05579	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	287	cd05572	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	222	cd06659	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	235	cd06619	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	249	cd05101	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	225	cd06654	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	283	cd07843	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	328	cd07838	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	321	cd07840	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	259	cd06626	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	300300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	213	cd08220	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	268	cd06608	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	216	cd06642	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	234	cd07870	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	216	cd06641	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	214_G	cd06640	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	279	cd07865	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	250	cd07873	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	253	cd05100	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	250	cd07872	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	244	cd06638	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	231	cd06634	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	229	cd06607	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	358	cd05055	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	258	cd05098	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	214	cd05115	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	240	cd05080	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	331	cd07830	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	241	cd05035	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	216	cd05589	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	257	cd07835	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	227	cd05108	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	303	cd07829	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	231	cd05074	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	245	cd05075	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	651	smart00219	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	384	pfam00069	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	440	pfam07714	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	949	smart00221	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	229	cd06629	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	259	cd05118	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	250	cd05616	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	242	cd05583	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	252	cd07857	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219	cd07836	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	221	cd05587	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	283	cd07841	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	212	cd07861	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	384	cd07842	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	223	cd08530	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	215	cd08219	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	262	cd06627	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	374	cd06606	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	307	cd05122	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	221	cd08222	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	216	cd08218	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	224	cd08529	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	293	cd07832	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	364	cd07834	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	245	cd05045	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	213	cd07839	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	238	cd08528	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	289	cd08217	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	226	cd05578	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	245	cd07860	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217	cd08225	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	287	cd08215	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217	cd08223	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	361	cd05107	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	359	cd05105	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	343	cd05104	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	230	cd06647	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	229	cd06917	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	216	cd05631	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	220	cd05605	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	280_G	cd08216	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	220	cd05632	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	232	cd06628	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	233	cd05612	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	308	cd06609	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	301	cd05580	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	363	cd05573	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	998	COG0515	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	233	cd06616	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	225	cd06615	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	348	cd05574	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	246	cd06617	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	290	cd06623	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	223	cd08229	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	225	cd08224	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	474	cd05581	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	223	cd08228	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	284	cd06605	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	229_G	cd06621	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	240	cd06622	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	245	cd07847	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	239	cd06610	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	249	cd07846	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	263	cd07837	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	233	cd06658	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	311	cd07866	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	236	cd07864	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	245	cd07844	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	249	cd07871	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219	cd05071	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	234	cd05089	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	264	cd07849	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	238	cd05061	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	255	cd05056	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	221	cd05052	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	245	cd05067	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	215	cd05082	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219	cd05070	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	220	cd05073	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	213	cd05083	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	220	cd05072	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	230	cd05034	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	225	cd05068	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219	cd05069	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	222	cd05039	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	255	cd05148	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	283	cd05032	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	240	cd05036	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	237	cd05062	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	269	cd06614	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	256	cd07831	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	330	cd07833	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	908	smart00220	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	238_G	cd06618	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	239	cd06635	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	281	cd05057	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	223	cd06645	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	227	cd05111	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	348	cd05054	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	299	cd05103	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	297	cd05102	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	230	cd06624	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	269	cd05053	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	227	cd05109	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	261	cd05033	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	225	cd05066	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	218	cd06611	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217	cd05114	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219	cd05059	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	263	cd05043	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	218	cd05113	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217	cd05112	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	223	cd06643	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	278	cd07852	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	227	cd05110	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	239	cd05088	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	282	cd05038	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	242	cd05081	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	242	cd05079	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	227	cd05065	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	341	cd05106	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217	cd06613	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	225	cd06651	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	225	cd06625	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	249	cd06652	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	241	cd06612	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	225	cd06653	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	231	cd06648	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	238	cd05076	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	252	cd05099	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	230	cd06644	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	214	cd05116	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	221	cd05060	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	227	cd05086	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	231	cd05042	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	232	cd05087	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	228	cd05593	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	222	cd05570	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	211	cd05590	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	227	cd05592	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	211	cd05591	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	243	cd06632	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	225	cd05077	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	252	cd05037	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	475	cd00192	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	223	cd05078	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	225	cd05058	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	229	cd06630	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	235	cd05044	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	214	cd05041	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	231	cd05040	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	211	cd05085	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	212	cd05084	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	211	cd05619	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	227	cd05063	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	274	cd06620	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	310	cd05051	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	228	cd06646	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	253	cd05049	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	232	cd06656	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	232	cd06655	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	242	cd05091	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	251	cd05050	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	242	cd05090	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	225	cd05064	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	245	cd05048	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	295	cd07845	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	255	cd05097	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	260	cd05095	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	304	cd05046	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	301	cd05094	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	229_G	cd06637	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	238	cd05093	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	286	cd05096	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	240	cd05092	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	220	cd05577	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	225	cd06631	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	836	cd05123	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	227	cd05047	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	819	cd00180	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219	cd08221	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	776	cd05579	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	295	cd05572	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	228	cd06659	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	241	cd06619	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	255	cd05101	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	233	cd06654	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	293	cd07843	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	334	cd07838	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	327	cd07840	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	266	cd06626	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	300300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219	cd08220	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	287	cd06608	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	233	cd06642	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	254	cd07870	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	233	cd06641	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	233	cd06640	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	319	cd07865	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	267	cd07873	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	270	cd05100	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	267	cd07872	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	263	cd06638	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	249	cd06634	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	253	cd06607	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	375	cd05055	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	275	cd05098	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	231	cd05115	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	257	cd05080	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	356	cd07830	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	258	cd05035	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	264	cd05589	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	274	cd07835	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	244	cd05108	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	326_G	cd07829	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	248	cd05074	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	262	cd05075	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	679	smart00219	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	446	pfam00069	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	461	pfam07714	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	985	smart00221	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	253	cd06629	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	288	cd05118	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	273	cd05616	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	272	cd05583	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	269	cd07857	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	241	cd07836	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	238	cd05587	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	314	cd07841	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	239	cd07861	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	415	cd07842	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	241	cd08530	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	232	cd08219	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	280	cd06627	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	407	cd06606	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	331	cd05122	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	238	cd08222	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	233	cd08218	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	242	cd08529	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	312	cd07832	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	430	cd07834	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	262	cd05045	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	241	cd07839	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	256	cd08528	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	306	cd08217	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	260	cd05578	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	261	cd07860	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	234	cd08225	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	315	cd08215	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	234	cd08223	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	378	cd05107	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	376	cd05105	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	360	cd05104	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	249	cd06647	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	250	cd06917	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	236	cd05631	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	247	cd05605	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	291	cd08216	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	247	cd05632	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	249	cd06628	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	253	cd05612	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	391	cd05580	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	389	cd05573	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	1143	COG0515	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	254	cd06616	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	282	cd06615	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	269	cd06617	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	318	cd06623	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	241	cd08229	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	243	cd08224	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	507	cd05581	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	241	cd08228	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	307	cd06605	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	255	cd06621	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	261	cd06622	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	281	cd07847	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	264	cd06610	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	284	cd07846	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	280	cd07837	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	252	cd06658	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	330	cd07866	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	253	cd07864	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	274	cd07844	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	266	cd07871	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	236	cd05071	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	251	cd05089	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	280	cd07849	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	255	cd05061	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	272	cd05056	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	238	cd05052	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	262	cd05067	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	232	cd05082	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	236	cd05070	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	237	cd05073	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	230	cd05083	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	237	cd05072	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	249	cd05034	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	242	cd05068	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	236	cd05069	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	239	cd05039	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	272	cd05148	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	303	cd05032	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	257	cd05036	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	254	cd05062	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	288	cd06614	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	277	cd07831	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	348	cd07833	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	1186	smart00220	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	257	cd06618	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	257	cd06635	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	298	cd05057	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	240	cd06645	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	244	cd05111	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	365	cd05054	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	316	cd05103	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	314	cd05102	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	250	cd06624	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	286	cd05053	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	244	cd05109	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	278	cd05033	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	242	cd05066	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	244	cd06611	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	234	cd05114	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	236	cd05059	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	280	cd05043	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	235	cd05113	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	234	cd05112	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	242	cd06643	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	295	cd07852	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	244	cd05110	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	256	cd05088	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	305	cd05038	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	259	cd05081	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	259	cd05079	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	244	cd05065	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	358	cd05106	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	245	cd06613	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	242	cd06651	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	243	cd06625	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	266	cd06652	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	256	cd06612	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	242	cd06653	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	251	cd06648	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	253	cd05076	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	269	cd05099	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	249	cd06644	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	231	cd05116	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	238	cd05060	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	247	cd05086	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	251	cd05042	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	252	cd05087	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	253	cd05593	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	238	cd05570	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	238	cd05590	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	254	cd05592	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	252	cd05591	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	260	cd06632	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	240	cd05077	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	273	cd05037	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	498	cd00192	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	238	cd05078	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	242	cd05058	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	245	cd06630	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	252	cd05044	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	231	cd05041	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	248	cd05040	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	228	cd05085	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	229	cd05084	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	246	cd05619	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	244	cd05063	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	304	cd06620	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	329	cd05051	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	245	cd06646	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	270	cd05049	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	249	cd06656	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	249	cd06655	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	259	cd05091	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	268	cd05050	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	259	cd05090	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	242	cd05064	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	262	cd05048	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	312	cd07845	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	274	cd05097	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	285	cd05095	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	322	cd05046	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	318	cd05094	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	249	cd06637	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	255	cd05093	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	310	cd05096	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	257	cd05092	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	237	cd05577	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	244	cd06631	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	882	cd05123	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	244	cd05047	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	836	cd00180	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	238	cd08221	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	801	cd05579	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	314	cd05572	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	251	cd06659	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	263	cd06619	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	272	cd05101	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	250	cd06654	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	317	cd07843	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	368	cd07840	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	285	cd06626	4557377,NP_000052
695	547759	Disease	p.Met630Lys	300300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	242	cd08220	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	267	cd06642	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	276	cd07870	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	270	cd06641	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	270	cd06640	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	353	cd07865	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	297	cd07873	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	295	cd05100	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	297	cd07872	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	285	cd06638	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	282	cd06634	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	296	cd06607	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	397	cd05055	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	300	cd05098	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	253	cd05115	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	278	cd05080	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	313	cd05589	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	297	cd07835	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	296	cd05108	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	346	cd07829	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	270	cd05074	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	284	cd05075	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	1082	smart00221	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	277	cd06629	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	320	cd05616	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	338	cd07857	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	276	cd07836	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	317	cd05587	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	267	cd07861	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	521	cd07834	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	284	cd05045	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	267	cd07839	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	278	cd08528	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	328	cd08217	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	289	cd05578	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	283	cd07860	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	256	cd08225	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	337	cd08215	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	256	cd08223	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	400	cd05107	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	398	cd05105	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	382	cd05104	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	286	cd06647	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	288	cd06917	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	277	cd05631	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	291	cd05605	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	328	cd08216	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	277	cd05632	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	271	cd06628	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	288	cd05612	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	474	cd05573	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	1241	COG0515	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	282	cd06616	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	305	cd06615	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	341	cd06623	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	262	cd08229	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	267	cd08224	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	265	cd08228	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	340	cd06605	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	280	cd06621	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	336	cd06622	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	303	cd07847	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	291	cd06610	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	306	cd07846	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	302	cd07837	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	285	cd06658	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	280	cd07864	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	287	cd07871	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	258	cd05071	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	276	cd05089	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	346	cd07849	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	281	cd05061	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	295	cd05056	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	260	cd05052	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	284	cd05067	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	254	cd05082	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	258	cd05070	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	259	cd05073	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	252	cd05083	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	259	cd05072	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	271	cd05034	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	264	cd05068	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	258	cd05069	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	265	cd05039	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	325	cd05032	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	279	cd05036	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	276	cd05062	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	323	cd06614	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	1246	smart00220	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	292	cd06618	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	279	cd06635	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	320	cd05057	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	276	cd05111	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	387	cd05054	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	338	cd05103	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	336	cd05102	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	272	cd06624	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	311	cd05053	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	266	cd05109	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	299	cd05033	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	263	cd05066	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	279	cd06611	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	264	cd06643	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	346	cd07852	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	290	cd05110	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	277	cd05088	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	327	cd05038	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	281	cd05081	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	281	cd05079	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	266	cd05065	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	380	cd05106	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	263	cd06651	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	264_G	cd06625	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	287	cd06652	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	268	cd06653	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	284	cd06648	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	294	cd05099	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	286	cd06644	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	253	cd05116	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	260	cd05060	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	306	cd05593	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	309	cd05570	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	282	cd05590	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	321	cd05592	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	283	cd05591	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	264	cd05058	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	267	cd06630	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	273	cd05044	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	253	cd05041	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	270	cd05040	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	250	cd05085	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	251	cd05084	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	300	cd05619	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	265	cd05063	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	330	cd06620	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	295	cd05049	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	272	cd06656	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	286	cd06655	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	281	cd05091	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	289	cd05050	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	281	cd05090	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	264	cd05064	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	283	cd05048	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	296	cd05097	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	307	cd05095	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	344	cd05046	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	350	cd05094	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	271	cd06637	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	287	cd05093	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	332	cd05096	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	287	cd05092	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	273	cd05577	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	265	cd05047	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	268	cd08221	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	831	cd05579	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	343	cd05572	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	275	cd06659	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	285	cd06619	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	297	cd05101	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	273	cd06654	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	401	cd07840	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	300300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	264	cd08220	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208_G	cd06608	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166_G	cd06642	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168	cd07870	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166_G	cd06641	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166_G	cd06640	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd07865	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	169	cd07873	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd05100	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	169	cd07872	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	189_G	cd06638	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176_G	cd06634	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176_G	cd06607	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	306	cd05055	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	207	cd05098	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	163	cd05115	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	175	cd05080	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	239	cd07830	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd05035	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd05589	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	192	cd07835	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd05108	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	218	cd07829	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	180	cd05074	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	194	cd05075	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	552	smart00219	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	294	pfam00069	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	347	pfam07714	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	758	smart00221	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	178_G	cd06629	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd05118	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd05616	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	172	cd05583	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	181	cd07857	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168	cd07836	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	171	cd05587	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd07841	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	167	cd07861	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	282	cd07842	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	173_G	cd08530	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	167_G	cd08219	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208_G	cd06627	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	281	cd06606	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	205_G	cd05122	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	171_G	cd08222	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	167	cd08218	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	172	cd08529	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	186	cd07832	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	243	cd07834	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	194	cd05045	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	164	cd07839	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd08528	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	237	cd08217	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	170_G	cd05578	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	165	cd07860	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168	cd08225	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	233_G	cd08215	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168	cd08223	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	309	cd05107	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	307	cd05105	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	291	cd05104	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	180_G	cd06647	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	170	cd06917	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd05631	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd05605	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd08216	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd05632	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	181	cd06628	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166_G	cd05612	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	194_G	cd06609	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	229_G	cd05580	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	232	cd05573	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	802	COG0515	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd06616	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	165	cd06615	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	189	cd05574	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	169	cd06617	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217_G	cd06623	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	172	cd08229	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	173	cd08224	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	394	cd05581	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	172	cd08228	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd06605	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	174_G	cd06621	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd06622	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	172_G	cd07847	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	179	cd06610	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd07846	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	184	cd07837	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	183_G	cd06658	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	213	cd07866	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd07864	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	169	cd07844	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168	cd07871	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168	cd05071	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	183	cd05089	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd07849	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	187	cd05061	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	204	cd05056	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	170	cd05052	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168	cd05067	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	164	cd05082	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168	cd05070	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	169	cd05073	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	162	cd05083	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	169	cd05072	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	179	cd05034	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	174	cd05068	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168	cd05069	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	171	cd05039	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	171	cd05148	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	231	cd05032	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	189	cd05036	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	186	cd05062	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	219_G	cd06614	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	170	cd07831	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	212	cd07833	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	667	smart00220	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	189	cd06618	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	186_G	cd06635	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	230	cd05057	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	171_G	cd06645	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd05111	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	296	cd05054	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	247	cd05103	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	245	cd05102	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	179	cd06624	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	217	cd05053	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd05109	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	210	cd05033	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	174	cd05066	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	170_G	cd06611	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd05114	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168	cd05059	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	212	cd05043	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	167	cd05113	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd05112	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168_G	cd06643	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	192	cd07852	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd05110	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd05088	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	200	cd05038	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd05081	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	177	cd05079	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd05065	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	289	cd05106	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	168_G	cd06613	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	174	cd06651	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	174_G	cd06625	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	198	cd06652	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	181_G	cd06612	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	174	cd06653	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	181_G	cd06648	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	185	cd05076	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	201	cd05099	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	175_G	cd06644	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	163	cd05116	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	170	cd05060	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	167	cd05086	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	171	cd05042	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	172	cd05087	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	160	cd05593	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	163	cd05570	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	161	cd05590	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	178	cd05592	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	161	cd05591	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	187_G	cd06632	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	173	cd05077	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	190	cd05037	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	396	cd00192	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	171_G	cd05078	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	174	cd05058	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	174	cd06630	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	184	cd05044	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	163	cd05041	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	178	cd05040	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	160	cd05085	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	161	cd05084	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	161	cd05619	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd05063	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	166	cd06620	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	237	cd05051	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	171_G	cd06646	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	199	cd05049	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	180_G	cd06656	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	180_G	cd06655	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	191	cd05091	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	200	cd05050	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	191	cd05090	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	174	cd05064	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	194	cd05048	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd07845	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	198	cd05097	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	208	cd05095	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	252	cd05046	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	197	cd05094	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd06637	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	187	cd05093	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	234	cd05096	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	189	cd05092	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	165	cd05577	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	175	cd06631	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	736_G	cd05123	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd05047	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	625	cd00180	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	170	cd08221	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	390	cd05579	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	228_G	cd05572	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	182_G	cd06659	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	179_G	cd06619	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	204	cd05101	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	181_G	cd06654	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	188	cd07843	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	200	cd07838	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	228	cd07840	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	194	cd06626	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	300300.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300	AGAMMAGLOBULINEMIA, X-LINKED	OMIM	176	cd08220	4557377,NP_000052
65109	12711674	Disease	p.Tyr160Asp	300298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300298	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14	OMIM	155	pfam03467	NULL
65109	60390643	Disease	p.Tyr160Asp	300298.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300298	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14	OMIM	155	pfam03467	18375528,NP_542199
51360	6016601	Disease	p.His277Leu	300294.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300294	IFAP SYNDROME	OMIM	242	pfam02163	7706693,NP_056968
51360	6016601	Disease	p.His277Leu	300294.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300294	IFAP SYNDROME	OMIM	255	cd05709	7706693,NP_056968
51360	6016601	Disease	p.His277Leu	300294.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300294	IFAP SYNDROME	OMIM	274	cd06162	7706693,NP_056968
51360	6016601	Disease	p.His277Leu	300294.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300294	IFAP SYNDROME	OMIM	302	cd06159	7706693,NP_056968
51360	6016601	Disease	p.Met87Ile	300294.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300294	IFAP SYNDROME	OMIM	82	cd06162	7706693,NP_056968
51360	6016601	Disease	p.Met87Ile	300294.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300294	IFAP SYNDROME	OMIM	80	cd06159	7706693,NP_056968
51360	6016601	Disease	p.Arg429His	300294.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300294	IFAP SYNDROME	OMIM	613	pfam02163	7706693,NP_056968
51360	6016601	Disease	p.Arg429His	300294.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300294	IFAP SYNDROME	OMIM	664	cd05709	7706693,NP_056968
51360	6016601	Disease	p.Arg429His	300294.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300294	IFAP SYNDROME	OMIM	433	cd06162	7706693,NP_056968
51360	6016601	Disease	p.Arg429His	300294.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300294	IFAP SYNDROME	OMIM	583	cd06159	7706693,NP_056968
51360	6016601	Disease	p.Phe475Ser	300294.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300294	IFAP SYNDROME	OMIM	659	pfam02163	7706693,NP_056968
51360	6016601	Disease	p.Phe475Ser	300294.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300294	IFAP SYNDROME	OMIM	710	cd05709	7706693,NP_056968
51360	6016601	Disease	p.Phe475Ser	300294.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300294	IFAP SYNDROME	OMIM	479	cd06162	7706693,NP_056968
51360	6016601	Disease	p.Phe475Ser	300294.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300294	IFAP SYNDROME	OMIM	628	cd06159	7706693,NP_056968
51360	6016601	Disease	p.Trp226Leu	300294.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300294	IFAP SYNDROME	OMIM	188	pfam02163	7706693,NP_056968
51360	6016601	Disease	p.Trp226Leu	300294.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300294	IFAP SYNDROME	OMIM	204	cd05709	7706693,NP_056968
51360	6016601	Disease	p.Trp226Leu	300294.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300294	IFAP SYNDROME	OMIM	223	cd06162	7706693,NP_056968
51360	6016601	Disease	p.Trp226Leu	300294.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300294	IFAP SYNDROME	OMIM	255	cd06159	7706693,NP_056968
50943	14548061	Disease	p.Arg397Trp	300292.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	67	cd00059	31982943,NP_054728
50943	14548061	Disease	p.Arg397Trp	300292.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	88	smart00339	31982943,NP_054728
50943	14548061	Disease	p.Arg397Trp	300292.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	83	pfam00250	31982943,NP_054728
50943	167466190	Disease	p.Arg397Trp	300292.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	No Domain	N/A	NULL
50943	14548061	Disease	p.Phe371Cys	300292.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	36	cd00059	31982943,NP_054728
50943	14548061	Disease	p.Phe371Cys	300292.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	36	smart00339	31982943,NP_054728
50943	14548061	Disease	p.Phe371Cys	300292.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	57	pfam00250	31982943,NP_054728
50943	167466190	Disease	p.Phe371Cys	300292.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	122	smart00339	NULL
50943	167466190	Disease	p.Phe371Cys	300292.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	103	pfam00250	NULL
50943	167466190	Disease	p.Phe371Cys	300292.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	85	cd00059	NULL
50943	14548061	Disease	p.Ala384Thr	300292.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	54	cd00059	31982943,NP_054728
50943	14548061	Disease	p.Ala384Thr	300292.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	75	smart00339	31982943,NP_054728
50943	14548061	Disease	p.Ala384Thr	300292.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	70	pfam00250	31982943,NP_054728
50943	167466190	Disease	p.Ala384Thr	300292.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	136	smart00339	NULL
50943	167466190	Disease	p.Ala384Thr	300292.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	139	pfam00250	NULL
50943	14548061	Disease	p.Phe373Ala	300292.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	38	cd00059	31982943,NP_054728
50943	14548061	Disease	p.Phe373Ala	300292.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	38	smart00339	31982943,NP_054728
50943	14548061	Disease	p.Phe373Ala	300292.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	59	pfam00250	31982943,NP_054728
50943	167466190	Disease	p.Phe373Ala	300292.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	124	smart00339	NULL
50943	167466190	Disease	p.Phe373Ala	300292.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	105	pfam00250	NULL
50943	167466190	Disease	p.Phe373Ala	300292.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	87	cd00059	NULL
50943	14548061	Disease	p.Phe324Lys	300292.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	No Domain	N/A	31982943,NP_054728
50943	167466190	Disease	p.Phe324Lys	300292.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	24	smart00339	NULL
50943	167466190	Disease	p.Phe324Lys	300292.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	45	pfam00250	NULL
50943	167466190	Disease	p.Phe324Lys	300292.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	24	cd00059	NULL
50943	14548061	Disease	p.Met1Ile	300292.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	No Domain	N/A	31982943,NP_054728
50943	167466190	Disease	p.Met1Ile	300292.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	No Domain	N/A	NULL
50943	14548061	Disease	p.Pro367Leu	300292.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	32	cd00059	31982943,NP_054728
50943	14548061	Disease	p.Pro367Leu	300292.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	32	smart00339	31982943,NP_054728
50943	14548061	Disease	p.Pro367Leu	300292.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	53	pfam00250	31982943,NP_054728
50943	167466190	Disease	p.Pro367Leu	300292.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	104	smart00339	NULL
50943	167466190	Disease	p.Pro367Leu	300292.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	99	pfam00250	NULL
50943	167466190	Disease	p.Pro367Leu	300292.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300292	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED	OMIM	81	cd00059	NULL
60506	23396778	Disease	p.Ala187Lys	300278.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300278	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A	OMIM	No Domain	N/A	12007646,NP_072089
60506	23396778	Disease	p.Arg94Pro	300278.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300278	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A	OMIM	11	smart00370	12007646,NP_072089
60506	23396778	Disease	p.Arg94Pro	300278.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300278	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A	OMIM	11	smart00369	12007646,NP_072089
60506	23396778	Disease	p.Ile101Thr	300278.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300278	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A	OMIM	20	smart00370	12007646,NP_072089
60506	23396778	Disease	p.Ile101Thr	300278.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300278	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A	OMIM	20	smart00369	12007646,NP_072089
50814	8488997	Disease	p.Ala105Val	300275.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	128	pfam07993	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala105Val	300275.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	157	COG0451	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala105Val	300275.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	87	COG1087	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala105Val	300275.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	92	pfam02719	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala105Val	300275.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	107	pfam01370	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala105Val	300275.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	85	pfam01073	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala105Val	300275.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	128	pfam07993	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala105Val	300275.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	157	COG0451	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala105Val	300275.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	87	COG1087	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala105Val	300275.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	92	pfam02719	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala105Val	300275.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	107	pfam01370	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala105Val	300275.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	85	pfam01073	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Gly205Ser	300275.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	324	pfam07993	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Gly205Ser	300275.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	344	COG0451	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Gly205Ser	300275.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	210	COG1087	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Gly205Ser	300275.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	194	pfam02719	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Gly205Ser	300275.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	272	pfam01370	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Gly205Ser	300275.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	202	pfam01073	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Gly205Ser	300275.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	324	pfam07993	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Gly205Ser	300275.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	344	COG0451	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Gly205Ser	300275.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	210	COG1087	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Gly205Ser	300275.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	194	pfam02719	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Gly205Ser	300275.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	272	pfam01370	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Gly205Ser	300275.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	202	pfam01073	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala182Pro	300275.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	289	pfam07993	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala182Pro	300275.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	307	COG0451	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala182Pro	300275.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	172	COG1087	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala182Pro	300275.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	156	pfam02719	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala182Pro	300275.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	242	pfam01370	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala182Pro	300275.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	174	pfam01073	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala182Pro	300275.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	289	pfam07993	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala182Pro	300275.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	307	COG0451	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala182Pro	300275.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	172	COG1087	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala182Pro	300275.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	156	pfam02719	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala182Pro	300275.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	242	pfam01370	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala182Pro	300275.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300275	CHILD SYNDROME	OMIM	174	pfam01073	193211614,NP_001123237|8393516,NP_057006
7547	6137314	Disease	p.Thr325Met	300265.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300265	HETEROTAXY, VISCERAL, 1, X-LINKED	OMIM	No Domain	N/A	4507973,NP_003404
7547	6137314	Disease	p.Cys253Ser	300265.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300265	HETEROTAXY, VISCERAL, 1, X-LINKED	OMIM	No Domain	N/A	4507973,NP_003404
7547	6137314	Disease	p.Lys405Glu	300265.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300265	HETEROTAXY, VISCERAL, 1, X-LINKED	OMIM	27	pfam00096	4507973,NP_003404
7547	6137314	Disease	p.Lys405Glu	300265.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300265	HETEROTAXY, VISCERAL, 1, X-LINKED	OMIM	27	smart00355	4507973,NP_003404
7547	6137314	Disease	p.Pro217Ala	300265.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300265	CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED	OMIM	No Domain	N/A	4507973,NP_003404
7547	6137314	Disease	p.Trp255Gly	300265.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300265	HETEROTAXY, VISCERAL, 1, X-LINKED	OMIM	No Domain	N/A	4507973,NP_003404
3028	83715985	Disease	p.Arg130Cys	300256.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	140	COG4221	NULL
3028	83715985	Disease	p.Arg130Cys	300256.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	295	COG1028	NULL
3028	83715985	Disease	p.Arg130Cys	300256.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	874	smart00822	NULL
3028	83715985	Disease	p.Arg130Cys	300256.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	168	pfam00106	NULL
3028	83715985	Disease	p.Arg130Cys	300256.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	181	pfam08659	NULL
3028	83715985	Disease	p.Arg130Cys	300256.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	121	COG3967	NULL
3028	83715985	Disease	p.Arg130Cys	300256.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	129	COG0300	NULL
3028	2492759	Disease	p.Arg130Cys	300256.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	140	COG4221	4758504,NP_004484
3028	2492759	Disease	p.Arg130Cys	300256.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	295	COG1028	4758504,NP_004484
3028	2492759	Disease	p.Arg130Cys	300256.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	874	smart00822	4758504,NP_004484
3028	2492759	Disease	p.Arg130Cys	300256.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	168	pfam00106	4758504,NP_004484
3028	2492759	Disease	p.Arg130Cys	300256.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	181	pfam08659	4758504,NP_004484
3028	2492759	Disease	p.Arg130Cys	300256.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	121	COG3967	4758504,NP_004484
3028	2492759	Disease	p.Arg130Cys	300256.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	129	COG0300	4758504,NP_004484
3028	83715985	Disease	p.Leu122Val	300256.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	132	COG4221	NULL
3028	83715985	Disease	p.Leu122Val	300256.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	262	COG1028	NULL
3028	83715985	Disease	p.Leu122Val	300256.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	861	smart00822	NULL
3028	83715985	Disease	p.Leu122Val	300256.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	160	pfam00106	NULL
3028	83715985	Disease	p.Leu122Val	300256.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	173	pfam08659	NULL
3028	83715985	Disease	p.Leu122Val	300256.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	113	COG3967	NULL
3028	83715985	Disease	p.Leu122Val	300256.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	121	COG0300	NULL
3028	2492759	Disease	p.Leu122Val	300256.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	132	COG4221	4758504,NP_004484
3028	2492759	Disease	p.Leu122Val	300256.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	262	COG1028	4758504,NP_004484
3028	2492759	Disease	p.Leu122Val	300256.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	861	smart00822	4758504,NP_004484
3028	2492759	Disease	p.Leu122Val	300256.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	160	pfam00106	4758504,NP_004484
3028	2492759	Disease	p.Leu122Val	300256.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	173	pfam08659	4758504,NP_004484
3028	2492759	Disease	p.Leu122Val	300256.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	113	COG3967	4758504,NP_004484
3028	2492759	Disease	p.Leu122Val	300256.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	121	COG0300	4758504,NP_004484
3028	83715985	Disease	p.Asn247Ser	300256.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	682	COG1028	NULL
3028	83715985	Disease	p.Asn247Ser	300256.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	258	COG3967	NULL
3028	2492759	Disease	p.Asn247Ser	300256.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	651	COG1028	4758504,NP_004484
3028	2492759	Disease	p.Asn247Ser	300256.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	249	COG3967	4758504,NP_004484
3028	2492759	Disease	p.Asn247Ser	300256.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	292	COG0300	4758504,NP_004484
3028	83715985	Disease	p.Arg192Arg	300256.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	MENTAL RETARDATION, X-LINKED, SYNDROMIC 10	OMIM	208	COG4221	NULL
3028	83715985	Disease	p.Arg192Arg	300256.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	MENTAL RETARDATION, X-LINKED, SYNDROMIC 10	OMIM	533	COG1028	NULL
3028	83715985	Disease	p.Arg192Arg	300256.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	MENTAL RETARDATION, X-LINKED, SYNDROMIC 10	OMIM	1112	smart00822	NULL
3028	83715985	Disease	p.Arg192Arg	300256.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	MENTAL RETARDATION, X-LINKED, SYNDROMIC 10	OMIM	194	COG3967	NULL
3028	83715985	Disease	p.Arg192Arg	300256.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	MENTAL RETARDATION, X-LINKED, SYNDROMIC 10	OMIM	205	COG0300	NULL
3028	2492759	Disease	p.Arg192Arg	300256.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	MENTAL RETARDATION, X-LINKED, SYNDROMIC 10	OMIM	199	COG4221	4758504,NP_004484
3028	2492759	Disease	p.Arg192Arg	300256.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	MENTAL RETARDATION, X-LINKED, SYNDROMIC 10	OMIM	518	COG1028	4758504,NP_004484
3028	2492759	Disease	p.Arg192Arg	300256.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	MENTAL RETARDATION, X-LINKED, SYNDROMIC 10	OMIM	1017	smart00822	4758504,NP_004484
3028	2492759	Disease	p.Arg192Arg	300256.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	MENTAL RETARDATION, X-LINKED, SYNDROMIC 10	OMIM	239	pfam08659	4758504,NP_004484
3028	2492759	Disease	p.Arg192Arg	300256.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	MENTAL RETARDATION, X-LINKED, SYNDROMIC 10	OMIM	180	COG3967	4758504,NP_004484
3028	2492759	Disease	p.Arg192Arg	300256.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	MENTAL RETARDATION, X-LINKED, SYNDROMIC 10	OMIM	200	COG0300	4758504,NP_004484
3028	83715985	Disease	p.Glu249Gln	300256.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	261	COG3967	NULL
3028	2492759	Disease	p.Glu249Gln	300256.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	653	COG1028	4758504,NP_004484
3028	2492759	Disease	p.Glu249Gln	300256.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	251	COG3967	4758504,NP_004484
3028	2492759	Disease	p.Glu249Gln	300256.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300256	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	OMIM	294	COG0300	4758504,NP_004484
8517	6685695	Disease	p.Met407Val	300248.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	INCONTINENTIA PIGMENTI, TYPE II	OMIM	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	223671872	Disease	p.Met407Val	300248.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	INCONTINENTIA PIGMENTI, TYPE II	OMIM	No Domain	N/A	NULL
8517	6685695	Disease	p.Met407Val	300248.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	INCONTINENTIA PIGMENTI, TYPE II	OMIM	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	223671870	Disease	p.Met407Val	300248.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	INCONTINENTIA PIGMENTI, TYPE II	OMIM	No Domain	N/A	NULL
8517	6685695	Disease	p.Cys417Arg	300248.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY||HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC	OMIM	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	223671872	Disease	p.Cys417Arg	300248.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY||HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC	OMIM	No Domain	N/A	NULL
8517	6685695	Disease	p.Cys417Arg	300248.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY||HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC	OMIM	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	223671870	Disease	p.Cys417Arg	300248.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY||HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC	OMIM	No Domain	N/A	NULL
8517	6685695	Disease	p.Cys417Phe	300248.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY	OMIM	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	223671872	Disease	p.Cys417Phe	300248.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY	OMIM	No Domain	N/A	NULL
8517	6685695	Disease	p.Cys417Phe	300248.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY	OMIM	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	223671870	Disease	p.Cys417Phe	300248.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY	OMIM	No Domain	N/A	NULL
8517	6685695	Disease	p.Asp406Val	300248.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC	OMIM	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	223671872	Disease	p.Asp406Val	300248.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC	OMIM	No Domain	N/A	NULL
8517	6685695	Disease	p.Asp406Val	300248.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC	OMIM	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	223671870	Disease	p.Asp406Val	300248.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC	OMIM	No Domain	N/A	NULL
8517	6685695	Disease	p.Lys153Arg	300248.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY	OMIM	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	223671872	Disease	p.Lys153Arg	300248.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY	OMIM	No Domain	N/A	NULL
8517	6685695	Disease	p.Lys153Arg	300248.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY	OMIM	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	223671870	Disease	p.Lys153Arg	300248.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY	OMIM	42	pfam11577	NULL
8517	6685695	Disease	p.Ala288Gly	300248.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY	OMIM	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	223671872	Disease	p.Ala288Gly	300248.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY	OMIM	No Domain	N/A	NULL
8517	6685695	Disease	p.Ala288Gly	300248.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY	OMIM	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	223671870	Disease	p.Ala288Gly	300248.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY	OMIM	No Domain	N/A	NULL
8517	6685695	Disease	p.Glu315Ala	300248.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1	OMIM	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	223671872	Disease	p.Glu315Ala	300248.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1	OMIM	No Domain	N/A	NULL
8517	6685695	Disease	p.Glu315Ala	300248.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1	OMIM	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	223671870	Disease	p.Glu315Ala	300248.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1	OMIM	No Domain	N/A	NULL
8517	6685695	Disease	p.Arg319Gln	300248.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1	OMIM	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	223671872	Disease	p.Arg319Gln	300248.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1	OMIM	No Domain	N/A	NULL
8517	6685695	Disease	p.Arg319Gln	300248.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1	OMIM	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	223671870	Disease	p.Arg319Gln	300248.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1	OMIM	No Domain	N/A	NULL
8517	6685695	Disease	p.Arg173Gly	300248.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2	OMIM	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	223671872	Disease	p.Arg173Gly	300248.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2	OMIM	No Domain	N/A	NULL
8517	6685695	Disease	p.Arg173Gly	300248.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2	OMIM	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	223671870	Disease	p.Arg173Gly	300248.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300248	INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2	OMIM	62	pfam11577	NULL
9210	51338749	Disease	p.Tyr235Cys	300247.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300247	OVARIAN DYSGENESIS 2	OMIM	No Domain	N/A	257743454,NP_005439
9210	51338749	Disease	p.Arg76Cys	300247.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300247	PREMATURE OVARIAN FAILURE 4	OMIM	No Domain	N/A	257743454,NP_005439
9210	51338749	Disease	p.Ala180Thr	300247.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300247	PREMATURE OVARIAN FAILURE 4	OMIM	No Domain	N/A	257743454,NP_005439
9210	51338749	Disease	p.Arg68Trp	300247.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300247	PREMATURE OVARIAN FAILURE 4	OMIM	No Domain	N/A	257743454,NP_005439
9210	51338749	Disease	p.Ala180Thr	300247.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300247	PREMATURE OVARIAN FAILURE 4	OMIM	No Domain	N/A	257743454,NP_005439
152503	166977688	Disease	p.Glu80Lys	300205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300205	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT	OMIM	No Domain	N/A	193083141,NP_001009555
152503	193083143	Disease	p.Glu80Lys	300205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300205	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT	OMIM	No Domain	N/A	NULL
152503	193083145	Disease	p.Glu80Lys	300205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300205	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT	OMIM	No Domain	N/A	NULL
79742	193804856	Disease	p.Glu80Lys	300205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300205	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Glu80Lys	300205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300205	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
152503	166977688	Disease	p.Arg147His	300205.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300205	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT	OMIM	No Domain	N/A	193083141,NP_001009555
152503	193083143	Disease	p.Arg147His	300205.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300205	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT	OMIM	No Domain	N/A	NULL
152503	193083145	Disease	p.Arg147His	300205.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300205	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT	OMIM	No Domain	N/A	NULL
152503	166977688	Disease	p.Leu18Pro	300205.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300205	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL	OMIM	No Domain	N/A	193083141,NP_001009555
152503	193083143	Disease	p.Leu18Pro	300205.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300205	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL	OMIM	No Domain	N/A	NULL
152503	193083145	Disease	p.Leu18Pro	300205.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300205	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL	OMIM	No Domain	N/A	NULL
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	150	cd05063	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	147	cd06617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	158	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	152	cd06621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd06609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	196	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	182	cd05574	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	158	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	146	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd06653	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	191	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	171	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	152	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	258	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	154	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	146	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	192	cd05053	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	146	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	161	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	149	cd05034	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd05038	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	199	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	662	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	172	cd06652	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	153	cd06917	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	310	cd05599	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	175	cd05050	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	161	cd06605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	151	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	147	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	161	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd05048	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	147	cd05058	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	140	cd05570	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	153	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	137	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	153	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	154	cd05047	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	137	cd05116	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	159	cd05044	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	150	cd05040	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	137	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	136	cd05085	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	362	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05060	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	136	cd05084	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	194	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	179	cd05101	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	157	cd06647	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	157	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	204	cd05057	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	158	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	177	cd06639	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	184	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	184	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	163	cd06636	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	162	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	176	cd05099	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	163	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	159	cd06659	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	157	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	184	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	176	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	182	cd05098	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	152	cd06644	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd06625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	161	cd06632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	140	cd05606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	139	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	527	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	140	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	139	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	146	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	317	pfam07714	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	455	smart00219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	149	cd05080	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	147	cd05148	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	150	cd05081	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05071	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	152	cd06629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	151	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	218	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	192	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	154	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	192	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	253	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	154	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	151	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	149	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	620	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	185	cd06608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	228	cd05046	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	153	cd06637	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	281	cd05055	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	178	cd05056	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	173	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	158	cd06648	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd06638	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	150	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd05088	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	158	cd06657	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd06658	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd06613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd05072	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05070	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	162	cd05061	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	146	cd06631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	206	cd05032	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	157	cd06616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	157	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd08222	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd05045	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd08218	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd08223	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	142	cd08219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd08225	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	150	cd06628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	147	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	147	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	146	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	141	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	252	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	153	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	177	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	213	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	232	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	142	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	153	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	202	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	151	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	152	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd08528	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd08529	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	159	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	151	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	162	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd06651	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	188	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	162	cd05093	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd06646	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd06645	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd06642	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd06640	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	152	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	164	cd05092	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	151	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	146	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	163	cd05036	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	157	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	163	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	157	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	176	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	142	cd05577	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	210	cd05572	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	442	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	139	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd05042	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05041	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	137	cd05115	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	137	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	658	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	135	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd05066	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05059	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	180	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	146	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	146	cd05052	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	146	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd08229	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	149	cd08224	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd05065	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd08228	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	142	cd05112	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05113	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	142	cd05083	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	183	cd05095	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05067	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	147	cd05068	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	142	cd05114	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	173	cd05097	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd05049	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05082	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd05039	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	161	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	161	cd06618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	162	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd05073	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	156	cd06624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	150	cd05063	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	147	cd06617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	158	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	152	cd06621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd06609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	196	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	182	cd05574	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	158	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	146	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd06653	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	191	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	171	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	152	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	258	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	154	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	146	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	192	cd05053	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	146	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	161	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	149	cd05034	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd05038	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	199	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	662	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	172	cd06652	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	153	cd06917	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	310	cd05599	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	175	cd05050	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	161	cd06605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	151	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	147	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	161	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd05048	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	147	cd05058	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	140	cd05570	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	153	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	137	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	153	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	154	cd05047	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	137	cd05116	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	159	cd05044	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	150	cd05040	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	137	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	136	cd05085	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	362	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05060	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	136	cd05084	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	194	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	179	cd05101	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	157	cd06647	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	157	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	204	cd05057	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	158	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	177	cd06639	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	184	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	184	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	163	cd06636	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	162	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	176	cd05099	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	163	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	159	cd06659	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	157	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	184	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	176	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	182	cd05098	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	152	cd06644	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd06625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	161	cd06632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	140	cd05606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	139	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	527	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	140	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	139	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	146	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	317	pfam07714	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	455	smart00219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	149	cd05080	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	147	cd05148	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	150	cd05081	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05071	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	152	cd06629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	151	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	218	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	192	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	154	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	192	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	253	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	154	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	151	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	149	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	620	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	185	cd06608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	228	cd05046	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	153	cd06637	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	281	cd05055	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	178	cd05056	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	173	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	158	cd06648	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd06638	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	150	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd05088	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	158	cd06657	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd06658	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd06613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd05072	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05070	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	162	cd05061	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	146	cd06631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	206	cd05032	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	157	cd06616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	157	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd08222	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd05045	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd08218	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd08223	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	142	cd08219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd08225	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	150	cd06628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	147	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	147	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	146	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	141	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	252	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	153	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	177	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	213	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	232	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	142	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	153	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	202	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	151	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	152	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd08528	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd08529	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	159	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	151	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	162	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd06651	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	188	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	162	cd05093	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd06646	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd06645	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd06642	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd06640	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	152	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	164	cd05092	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	151	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	146	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	163	cd05036	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	157	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	163	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	157	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	176	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	142	cd05577	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	210	cd05572	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	442	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	139	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd05042	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	138	cd05041	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	137	cd05115	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	137	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	658	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	135	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd05066	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05059	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	180	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	146	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	146	cd05052	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	146	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd08229	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	149	cd08224	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd05065	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd08228	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	142	cd05112	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	143	cd05113	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	142	cd05083	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	183	cd05095	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05067	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	147	cd05068	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	142	cd05114	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	173	cd05097	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd05049	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	144	cd05082	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	148	cd05039	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	161	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	161	cd06618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	162	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	145	cd05073	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	300203.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	156	cd06624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	176	cd05063	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd06617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	184	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	173	cd06621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	193	cd06609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	229_G	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	212	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	261	cd05574	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	162	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	178	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	181	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	176	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	225	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	173	cd06653	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	218	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	194	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	171	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	401	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	212	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	186	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	200	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	213	cd05053	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	173	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	183	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	175	cd05034	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	200	cd05038	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	164	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	801	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	197	cd06652	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	177	cd06917	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	368	cd05599	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	226	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	200	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	200	cd05050	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	183	cd06605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	212	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	192	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	184	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	185	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	194	cd05048	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd05058	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166_G	cd05570	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	176	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	159	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	175	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	176	cd05047	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	163	cd05116	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	184	cd05044	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd05040	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	159	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05085	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	396	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd05060	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	161	cd05084	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	218	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	204	cd05101	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	179	cd06647	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	179	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	230	cd05057	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	180	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	189	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	199	cd06639	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	207	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	194	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	207	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	189	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	185	cd06636	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	185	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	201	cd05099	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	181	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	185	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	181	cd06659	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	179	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	207	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	198	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	207	cd05098	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd06644	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	173	cd06625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	186	cd06632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	159	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	663	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	162	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	158	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	199	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	347	pfam07714	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	164	cd05069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	552	smart00219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd05080	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	171	cd05148	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd05081	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	164	cd05071	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	178	cd06629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	177	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	239	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	191	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	225	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	179	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	218	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	213	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	293	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	179	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	176	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	726	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	218	cd06608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	252	cd05046	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	175	cd06637	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd05055	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	204	cd05056	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	213	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	180	cd06648	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	188	cd06638	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	188	cd05088	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	180	cd06657	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	182	cd06658	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd06613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd05072	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd05070	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	187	cd05061	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd06631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	231	cd05032	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	178	cd06616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	180	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd08222	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	194	cd05045	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd08218	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd08223	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	164	cd08219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd08225	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	180	cd06628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	183	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	171	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	163	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	279	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	204	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	235	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	280	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	164	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	232	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	172	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	207	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	187	cd08528	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd08529	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	201	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	181	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	175	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	186	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	173	cd06651	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	251	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	172	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	187	cd05093	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd06646	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd06645	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd06642	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd06640	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	188	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	201	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	194	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	189	cd05092	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	176	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	189	cd05036	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	175	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	187	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	175	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	197	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	164	cd05577	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	239_G	cd05572	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	624	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	161	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	707	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	171	cd05042	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	163	cd05041	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	159	cd05115	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	158	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	733	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	157	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd05066	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd05059	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	210	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd05052	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd08229	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	171	cd08224	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	176	cd05065	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd08228	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	162	cd05112	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	163	cd05113	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	162	cd05083	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	208	cd05095	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd05067	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd05068	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	162	cd05114	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	198	cd05097	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	186	cd05049	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	164	cd05082	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	171	cd05039	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	186	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	182	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	179	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	179	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	183_G	cd06618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	181	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd05073	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	178	cd06624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	176	cd05063	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd06617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	184	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	173	cd06621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	193	cd06609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	229_G	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	212	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	261	cd05574	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	162	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	178	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	181	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	176	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	225	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	173	cd06653	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	218	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	194	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	171	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	401	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	212	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	186	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	200	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	213	cd05053	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	173	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	183	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	175	cd05034	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	200	cd05038	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	164	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	801	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	197	cd06652	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	177	cd06917	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	368	cd05599	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	226	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	200	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	200	cd05050	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	183	cd06605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	212	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	192	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	184	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	185	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	194	cd05048	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd05058	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166_G	cd05570	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	176	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	159	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	175	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	176	cd05047	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	163	cd05116	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	184	cd05044	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd05040	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	159	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05085	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	396	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd05060	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	161	cd05084	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	218	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	204	cd05101	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	179	cd06647	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	179	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	230	cd05057	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	180	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	189	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	199	cd06639	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	207	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	194	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	207	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	189	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	185	cd06636	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	185	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	201	cd05099	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	181	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	185	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	181	cd06659	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	179	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	207	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	198	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	207	cd05098	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd06644	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	173	cd06625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	186	cd06632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	159	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	663	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	162	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	158	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	199	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	347	pfam07714	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	164	cd05069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	552	smart00219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd05080	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	171	cd05148	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd05081	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	164	cd05071	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	178	cd06629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	177	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	239	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	191	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	225	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	179	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	218	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	213	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	293	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	179	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	176	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	726	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	218	cd06608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	252	cd05046	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	175	cd06637	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd05055	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	204	cd05056	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	213	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	180	cd06648	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	188	cd06638	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	188	cd05088	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	180	cd06657	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	182	cd06658	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd06613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd05072	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd05070	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	187	cd05061	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd06631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	231	cd05032	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	178	cd06616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	180	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd08222	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	194	cd05045	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd08218	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd08223	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	164	cd08219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd08225	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	180	cd06628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	183	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	171	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	163	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	279	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	204	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	235	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	280	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	164	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	232	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	172	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	207	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	187	cd08528	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd08529	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	201	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	181	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	175	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	186	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	173	cd06651	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	251	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	172	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	187	cd05093	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd06646	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd06645	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd06642	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	165	cd06640	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	188	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	201	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	194	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	189	cd05092	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	176	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	189	cd05036	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	175	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	187	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	175	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	197	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	164	cd05577	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	239_G	cd05572	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	160	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	624	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	161	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	707	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	171	cd05042	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	163	cd05041	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	159	cd05115	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	158	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	733	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	157	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd05066	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd05059	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	210	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	166	cd05052	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd08229	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	171	cd08224	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	176	cd05065	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd08228	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	162	cd05112	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	167	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	163	cd05113	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	162	cd05083	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	208	cd05095	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	168	cd05067	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	170	cd05068	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	162	cd05114	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	198	cd05097	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	186	cd05049	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	164	cd05082	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	171	cd05039	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	186	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	182	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	179	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	179	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	183_G	cd06618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	181	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	169	cd05073	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	300203.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	178	cd06624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	38	cd05063	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd06617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd06621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	43	cd06609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	77	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	37	cd05574	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	51	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd06653	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	38	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	75	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	48	cd05053	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd05034	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	39	cd05038	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	55	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	196	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd06652	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd06917	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05599	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	39	cd05050	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd06605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	37	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	35	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	36	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	35	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	33	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	40	cd05048	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd05058	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05570	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	26	cd05047	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	26	cd05116	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05044	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	28	cd05040	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05085	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd05060	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05084	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	54	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	51	cd05101	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	48	cd06647	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	48	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd05057	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	49	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	44	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	51	cd06639	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	72	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	42	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	72	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	53	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	45	cd06636	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	46	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	48	cd05099	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	50	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	54	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	50	cd06659	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	48	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	72	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	51	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	54	cd05098	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	40	cd06644	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd06625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd06632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	23	cd05606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	23	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	59	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	28	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	25	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	52	pfam07714	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd05069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	100	smart00219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	28	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	37	cd05080	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	35	cd05148	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	37	cd05081	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd05071	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd06629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	37	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	52	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	38	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	28	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	28	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	103	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	36	cd06608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	99	cd05046	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	35	cd06637	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd05055	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd05056	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	38	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	48	cd06648	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	47	cd06638	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	39	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	38	cd05088	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	49	cd06657	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	51	cd06658	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd06613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd05072	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd05070	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	40	cd05061	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	28	cd06631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd05032	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	33	cd06616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	39	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd08222	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd05045	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd08218	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd08223	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd08219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd08225	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd06628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	109	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	44	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	42	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	39	cd08528	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd08529	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd06651	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	47	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	39	cd05093	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	38	cd06646	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	33	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	38	cd06645	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	33	cd06642	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	33	cd06640	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	51	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	39	cd05092	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	35	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	40	cd05036	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	44	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	36	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	44	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	48	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	22	cd05577	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd05572	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	22	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	22	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	22	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd05042	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05041	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	26	cd05115	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	22	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	25	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	22	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	36	cd05066	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd05059	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	35	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	35	cd05052	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	35	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd08229	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd08224	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	36	cd05065	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd08228	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd05112	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd05113	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	33	cd05083	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	53	cd05095	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd05067	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd05068	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd05114	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	50	cd05097	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	39	cd05049	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	33	cd05082	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	33	cd05039	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	50	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	46	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	44	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	44	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	44	cd06618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	46	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd05073	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	37	cd06624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	38	cd05063	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd06617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd06621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	43	cd06609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	77	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	37	cd05574	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	51	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd06653	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	38	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	75	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	48	cd05053	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd05034	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	39	cd05038	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	55	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	196	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd06652	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd06917	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05599	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	39	cd05050	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd06605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	37	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	35	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	36	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	35	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	33	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	40	cd05048	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd05058	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05570	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	26	cd05047	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	26	cd05116	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd05044	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	28	cd05040	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05085	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd05060	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05084	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	54	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	51	cd05101	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	48	cd06647	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	48	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd05057	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	49	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	44	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	51	cd06639	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	72	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	42	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	72	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	53	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	45	cd06636	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	46	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	48	cd05099	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	50	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	54	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	50	cd06659	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	48	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	72	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	51	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	54	cd05098	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	40	cd06644	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd06625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd06632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	23	cd05606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	23	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	59	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	28	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	25	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	52	pfam07714	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd05069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	100	smart00219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	28	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	37	cd05080	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	35	cd05148	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	37	cd05081	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd05071	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd06629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	37	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	52	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	38	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	28	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	28	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	103	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	36	cd06608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	99	cd05046	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	35	cd06637	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd05055	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd05056	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	38	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	48	cd06648	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	47	cd06638	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	39	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	38	cd05088	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	49	cd06657	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	51	cd06658	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd06613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd05072	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd05070	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	40	cd05061	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	28	cd06631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd05032	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	33	cd06616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	39	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd08222	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd05045	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd08218	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd08223	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd08219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd08225	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd06628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	109	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	44	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	42	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	30	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	39	cd08528	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd08529	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd06651	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	47	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	39	cd05093	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	38	cd06646	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	33	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	38	cd06645	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	33	cd06642	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	33	cd06640	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	51	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	39	cd05092	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	35	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	40	cd05036	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	44	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	36	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	44	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	48	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	22	cd05577	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd05572	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	22	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	22	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	22	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	29	cd05042	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	24	cd05041	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	26	cd05115	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	22	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	25	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	22	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	36	cd05066	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd05059	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	35	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	35	cd05052	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	35	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd08229	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd08224	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	36	cd05065	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	31	cd08228	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd05112	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd05113	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	33	cd05083	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	53	cd05095	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd05067	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd05068	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	32	cd05114	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	50	cd05097	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	39	cd05049	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	33	cd05082	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	33	cd05039	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	50	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	46	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	44	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	44	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	44	cd06618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	46	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	34	cd05073	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	300203.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	37	cd06624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	69	cd05063	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd06617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd06621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	75	cd06609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	111	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	83	cd05574	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	82	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	66	cd06653	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	81	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	91	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	66	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	114	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	83	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	80	cd05053	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05034	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	72	cd05038	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	117	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	362	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	66	cd06652	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	70	cd06917	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	68	cd05599	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	70	cd05050	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd06605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	70	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	66	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	68	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd05048	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd05058	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd05570	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	57	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05047	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05116	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd05044	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd05040	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	57	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	57	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	57	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	55	cd05085	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	113	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05060	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	55	cd05084	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	90	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	83	cd05101	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	78	cd06647	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	78	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	120	cd05057	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	79	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	76	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	88	cd06639	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	105	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	74	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	105	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	85	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	75	cd06636	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	78	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	80	cd05099	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	83	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	87	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	80	cd06659	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	78	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	105	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	83	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	86	cd05098	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd06644	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	66	cd06625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd06632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd05606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	59	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	197	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	59	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	66	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	97	pfam07714	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	216	smart00219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	68	cd05080	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd05148	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd05081	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05071	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	70	cd06629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	68	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	95	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	88	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	70	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	78	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	96	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	294	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	90	cd06608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	130	cd05046	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd06637	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	103	cd05055	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	98	cd05056	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	70	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	78	cd06648	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	77	cd06638	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	70	cd05088	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	79	cd06657	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	81	cd06658	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd06613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05072	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05070	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd05061	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd06631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	102	cd05032	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	72	cd06616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	72	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd08222	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd05045	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd08218	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd08223	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd08219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd08225	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	70	cd06628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	156	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	78	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	126	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	80	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	66	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	80	cd08528	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd08529	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	76	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	68	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	68	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	66	cd06651	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	91	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	69	cd05093	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	68	cd06646	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	68	cd06645	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd06642	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd06640	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	69	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	84	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	69	cd05092	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd05036	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	77	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	68	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	77	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	80	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05577	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	104	cd05572	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	55	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	57	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd05042	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	56	cd05041	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	57	cd05115	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	55	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	96	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	55	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd05066	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd05059	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	91	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	66	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd05052	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	66	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd08229	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd08224	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd05065	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd08228	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd05112	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd05113	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd05083	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	84	cd05095	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05067	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05068	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd05114	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	81	cd05097	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	70	cd05049	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd05082	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd05039	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	82	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	78	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	76	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	76	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	76	cd06618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	78	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05073	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd06624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	69	cd05063	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd06617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd06621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	75	cd06609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	111	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	83	cd05574	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	82	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	66	cd06653	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	81	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	91	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	66	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	114	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	83	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	80	cd05053	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05034	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	72	cd05038	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	117	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	362	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	66	cd06652	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	70	cd06917	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	68	cd05599	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	70	cd05050	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd06605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	70	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	66	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	68	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd05048	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd05058	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd05570	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	57	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05047	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05116	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd05044	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd05040	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	57	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	57	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	57	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	55	cd05085	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	113	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05060	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	55	cd05084	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	90	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	83	cd05101	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	78	cd06647	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	78	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	120	cd05057	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	79	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	76	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	88	cd06639	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	105	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	74	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	105	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	85	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	75	cd06636	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	78	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	80	cd05099	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	83	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	87	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	80	cd06659	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	78	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	105	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	83	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	86	cd05098	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd06644	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	66	cd06625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd06632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd05606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	59	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	197	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	59	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	66	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	97	pfam07714	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	216	smart00219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	68	cd05080	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd05148	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd05081	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05071	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	70	cd06629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	68	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	95	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	88	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	70	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	78	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	96	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	294	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	90	cd06608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	130	cd05046	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd06637	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	103	cd05055	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	98	cd05056	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	70	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	78	cd06648	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	77	cd06638	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	70	cd05088	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	79	cd06657	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	81	cd06658	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd06613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05072	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05070	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd05061	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd06631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	102	cd05032	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	72	cd06616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	72	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd08222	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd05045	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd08218	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd08223	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd08219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd08225	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	70	cd06628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	156	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	78	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	126	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	80	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	66	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	62	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	80	cd08528	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd08529	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	76	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	68	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	68	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	66	cd06651	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	91	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	69	cd05093	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	68	cd06646	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	68	cd06645	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd06642	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd06640	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	69	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	84	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	69	cd05092	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	71	cd05036	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	77	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	68	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	77	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	80	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05577	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	104	cd05572	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	58	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	174	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	55	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	57	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	60	cd05042	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	56	cd05041	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	57	cd05115	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	55	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	96	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	55	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd05066	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd05059	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	91	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	66	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd05052	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	66	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd08229	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd08224	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd05065	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	64	cd08228	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd05112	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd05113	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd05083	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	84	cd05095	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05067	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05068	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd05114	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	81	cd05097	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	70	cd05049	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	61	cd05082	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	65	cd05039	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	82	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	78	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	76	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	76	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	76	cd06618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	78	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	63	cd05073	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	300203.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	67	cd06624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	316	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	313	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	327	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	304	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	305	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	249	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	277	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	295	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	268	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	327	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	318	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	319	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	332	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	319	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	307	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	295	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	286	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	521	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	362	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	283	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	298	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	295	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	318	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	259	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	293	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	296	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	266	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	440	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	1176	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	319	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	318	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	326	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	309	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	258	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	297	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	331	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	256	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	271	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	291	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	279	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	292	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	287	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	285	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	262	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	282	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	285	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	286	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	307	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	286	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	258	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	513	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	279	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	292	cd06647	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	289	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	290	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	341	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	345	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	298	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	312	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	312	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	303	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	307	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	294	cd06659	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	289	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	299	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	317	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	253	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	1215	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	282	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	456	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	299	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	284	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	269	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	273	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	386	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	307	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	411	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	308	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	356	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	346	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	465	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	308	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	291	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	1074	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	286	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	344	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	282	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	270	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	278	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	278	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	278	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	275	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	258	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	256	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	294	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	282	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	277	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	429	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	282	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	260	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	345	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	320	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	286	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	274	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	421	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	275	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	256	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	329	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	284	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	255	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	294	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	286	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	328	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	296	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	289	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	305	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	259	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	452	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	279	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	305	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	264	cd06646	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	267	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	317	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	325	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	317	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	291	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	288	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	267	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	307	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	299	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	323	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	264	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	854	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	269	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	815	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	266_G	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	915	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	238	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	282	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	289_G	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	280	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	280	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	279	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	309	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	305	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	292	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	292	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	294	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	316	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	313	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	327	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	304	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	305	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	249	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	277	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	295	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	268	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	327	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	318	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	319	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	332	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	319	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	307	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	295	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	286	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	521	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	362	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	283	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	298	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	295	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	318	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	259	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	293	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	296	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	266	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	440	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	1176	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	319	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	318	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	326	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	309	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	258	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	297	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	331	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	256	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	271	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	291	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	279	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	292	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	287	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	285	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	262	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	282	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	285	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	286	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	307	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	286	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	258	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	513	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	279	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	292	cd06647	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	289	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	290	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	341	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	345	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	298	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	312	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	312	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	303	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	307	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	294	cd06659	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	289	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	299	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	317	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	253	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	1215	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	282	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	456	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	299	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	284	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	269	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	273	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	386	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	307	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	411	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	308	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	356	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	346	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	465	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	308	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	291	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	1074	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	286	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	344	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	282	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	270	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	278	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	278	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	278	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	275	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	258	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	256	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	294	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	282	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	277	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	429	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	282	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	260	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	345	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	320	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	286	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	274	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	421	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	275	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	256	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	329	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	284	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	255	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	294	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	286	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	328	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	296	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	289	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	305	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	259	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	452	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	279	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	305	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	264	cd06646	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	267	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	317	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	325	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	317	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	291	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	288	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	267	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	307	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	299	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	323	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	264	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	854	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	269	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	815	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	266_G	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	915	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	238	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	282	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	289_G	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	280	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	280	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	279	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	309	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	305	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	292	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	292	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	300203.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	294	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	319	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	322	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	328_G	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	307	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	308	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	252	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	280	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	298	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	272	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	335	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	321	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	322	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	335	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	322	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	310	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	298	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	289	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	540	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	365	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	286	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	301	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	298	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	321	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	262	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	296	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	299	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	269	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	443	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	1179	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	322	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	321	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	329	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	312	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	261	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	300	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	334	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	259	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	274	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	294	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	282	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	295	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	291	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	288	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	265	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	285	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	305	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	287_G	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	288_G	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	309	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	308	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	289	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	261	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	519	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	282	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	305	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	292	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	293	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	305	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	344	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	348	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	301	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	315	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	315	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	306	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	310	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	292	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	320	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	256	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	1234	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	285	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	459	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	287	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	273	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	276	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	391	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	310	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	414	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	311	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	359	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	349	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	468	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	311	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	305	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	294	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	1077	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	289	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	347	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	285	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	273	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	281	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	281	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	281	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	278	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	266	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	264	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	297	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	285	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	280	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	432	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	285	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	263	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	349	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	323	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	289	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	284	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	424	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	278	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	259	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	332	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	287	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	258	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	297	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	289	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	331	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	299	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	292	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	308	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	262	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	455	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	282	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	305	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	308	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	270	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	320	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	328	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	320	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	294	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	291	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	270	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	310	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	326	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	267	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	867	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	272	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	821	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	269	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	925	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	244	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	285	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	289_G	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	283	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	283	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	282	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	312	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	308	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	295	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	295	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	297	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	319	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	322	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	328_G	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	307	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	308	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	252	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	280	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	298	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	272	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	335	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	321	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	322	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	335	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	322	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	310	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	298	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	289	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	540	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	365	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	286	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	301	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	298	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	321	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	262	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	296	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	299	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	269	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	443	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	1179	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	322	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	321	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	329	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	312	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	261	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	300	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	334	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	259	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	274	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	294	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	282	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	295	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	291	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	288	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	265	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	285	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	305	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	287_G	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	288_G	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	309	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	308	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	289	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	261	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	519	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	282	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	305	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	292	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	293	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	305	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	344	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	348	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	301	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	315	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	315	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	306	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	310	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	292	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	320	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	256	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	1234	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	285	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	459	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	287	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	273	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	276	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	391	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	310	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	414	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	311	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	359	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	349	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	468	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	311	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	305	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	294	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	1077	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	289	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	347	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	285	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	273	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	281	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	281	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	281	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	278	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	266	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	264	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	297	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	285	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	280	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	432	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	285	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	263	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	349	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	323	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	289	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	284	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	424	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	278	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	259	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	332	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	287	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	258	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	297	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	289	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	331	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	299	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	292	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	308	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	262	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	455	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	282	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	305	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	308	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	270	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	320	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	328	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	320	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	294	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	291	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	270	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	310	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	302	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	326	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	267	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	867	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	272	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	821	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	269	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	925	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	244	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	285	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	289_G	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	283	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	283	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	282	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	312	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	308	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	295	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	295	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	300203.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300203	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	OMIM	297	cd07877	83367069,NP_001032420|4507281,NP_003150
6399	20178096	Disease	p.Phe83Ser	300202.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300202	SPONDYLOEPIPHYSEAL DYSPLASIA TARDA	OMIM	111	COG5603	58533179,NP_001011658|7657548,NP_055378
6399	20178096	Disease	p.Phe83Ser	300202.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300202	SPONDYLOEPIPHYSEAL DYSPLASIA TARDA	OMIM	165	pfam04628	58533179,NP_001011658|7657548,NP_055378
6399	20178096	Disease	p.Phe83Ser	300202.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300202	SPONDYLOEPIPHYSEAL DYSPLASIA TARDA	OMIM	111	COG5603	58533179,NP_001011658|7657548,NP_055378
6399	20178096	Disease	p.Phe83Ser	300202.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300202	SPONDYLOEPIPHYSEAL DYSPLASIA TARDA	OMIM	165	pfam04628	58533179,NP_001011658|7657548,NP_055378
6399	291045294	Disease	p.Phe83Ser	300202.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300202	SPONDYLOEPIPHYSEAL DYSPLASIA TARDA	OMIM	48	COG5603	NULL
6399	291045294	Disease	p.Phe83Ser	300202.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300202	SPONDYLOEPIPHYSEAL DYSPLASIA TARDA	OMIM	92	pfam04628	NULL
9968	209572775	Disease	p.Arg961Trp	300188.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300188	OPITZ-KAVEGGIA SYNDROME	OMIM	No Domain	N/A	110347429,NP_005111
9968	209572775	Disease	p.Asn1007Ser	300188.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300188	LUJAN-FRYNS SYNDROME	OMIM	No Domain	N/A	110347429,NP_005111
415	77416850	Disease	p.Arg12Ser	300180.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300180	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE	OMIM	No Domain	N/A	157266309,NP_000038
415	77416850	Disease	p.Gly117Arg	300180.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300180	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE	OMIM	122	pfam00884	157266309,NP_000038
415	77416850	Disease	p.Gly117Arg	300180.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300180	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE	OMIM	130	COG3119	157266309,NP_000038
415	77416850	Disease	p.Arg111Pro	300180.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300180	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE	OMIM	113	pfam00884	157266309,NP_000038
415	77416850	Disease	p.Arg111Pro	300180.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300180	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE	OMIM	118	COG3119	157266309,NP_000038
415	77416850	Disease	p.Gly137Val	300180.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300180	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE	OMIM	143	pfam00884	157266309,NP_000038
415	77416850	Disease	p.Gly137Val	300180.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300180	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE	OMIM	150	COG3119	157266309,NP_000038
415	77416850	Disease	p.Gly245Arg	300180.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300180	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE	OMIM	273	pfam00884	157266309,NP_000038
415	77416850	Disease	p.Gly245Arg	300180.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300180	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE	OMIM	273	COG3119	157266309,NP_000038
415	77416850	Disease	p.Cys492Tyr	300180.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300180	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE	OMIM	777	pfam00884	157266309,NP_000038
415	77416850	Disease	p.Cys492Tyr	300180.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300180	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE	OMIM	614	COG3119	157266309,NP_000038
415	77416850	Disease	p.Pro578Ser	300180.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300180	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE	OMIM	No Domain	N/A	157266309,NP_000038
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07868	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07867	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	28	cd07856	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05093	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05071	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05067	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05090	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05070	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05068	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05065	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05097	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	31	cd05032	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05095	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05112	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05113	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	12	cd05633	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	12	cd05606	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd07852	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd07854	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	39	cd07876	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	30	cd06644	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	38	cd06654	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	36	cd06638	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	34	cd06636	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	38	cd06614	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	43	cd06635	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	39	cd06633	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	34	cd07850	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd07879	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	40	cd06639	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	61	cd05596	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd06618	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd07851	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	40	cd06658	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	61	cd05622	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	38	cd06657	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	37_G	cd06659	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd06650	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	14	cd00180	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05072	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05123	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	14	cd05611	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05572	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05607	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05579	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05585	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05586	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05608	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05115	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05577	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06629	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05085	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd06632	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05593	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05570	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05060	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05617	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05618	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05604	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05602	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05603	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05620	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05592	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05588	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05619	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05078	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd00192	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05575	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05571	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05595	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05116	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05041	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05084	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd06630	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05040	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05047	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05594	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05590	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05591	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06626	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd07864	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07862	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07848	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd06608	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	26	cd05581	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06610	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07847	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd07871	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07846	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07833	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd07843	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07874	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05609	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05597	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05624	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05573	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05114	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05059	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd07873	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06622	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05580	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05601	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd08224	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07837	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05612	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05600	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd07872	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd06609	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06917	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05629	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05627	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05598	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05599	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06621	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05574	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08223	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08215	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08225	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06627	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd06606	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07863	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08220	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08530	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07836	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07839	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07860	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd06631	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08218	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08219	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07842	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd08221	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd06628	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08217	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05578	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07841	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd08528	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05631	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05632	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05615	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07832	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd07834	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05605	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05630	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07857	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07853	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05045	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd06651	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07859	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd05613	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05122	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	7	smart00220	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	10	cd05069	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08227	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd08216	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	6	cd05073	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05039	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22_G	cd05082	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd07845	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05049	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	36	cd05057	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05109	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05056	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05108	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05088	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd07858	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05110	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05038	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22_G	cd05083	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	37	cd06648	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd06607	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	31_G	cd06634	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	37	cd06647	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	61	COG0515	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd07870	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd06653	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd07844	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd07869	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd06642	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd06641	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd06640	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd07875	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd06652	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05628	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06605	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd06623	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06619	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05623	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06615	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	27	cd06645	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd06616	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd06643	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd06611	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06617	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	pfam07714	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	smart00219	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05034	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd06625	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08222	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd07830	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd05118	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd08229	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd07835	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	smart00221	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd07840	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07829	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	pfam00069	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08529	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd07838	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07861	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd07831	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05148	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd08228	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd05589	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05616	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd05583	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd05074	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05035	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05587	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd05614	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd05582	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd05584	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	40	cd07855	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	27	cd07866	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	26	cd06624	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd06637	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd06612	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd05089	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05079	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05081	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd07849	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd06613	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05080	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd07880	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd07878	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	30	cd07865	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd05101	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	35	cd07877	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	61	cd05621	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05111	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	37	cd06656	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	37	cd06655	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd06620	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	30	cd05099	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05048	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05092	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05050	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05036	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05094	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05061	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd06649	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05062	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	27	cd06646	NULL
8573	186700627	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05052	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07868	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07867	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	28	cd07856	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05093	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05071	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05067	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05090	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05070	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05068	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05065	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05097	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	31	cd05032	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05095	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05112	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05113	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	12	cd05633	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	12	cd05606	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd07852	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd07854	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	39	cd07876	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	30	cd06644	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	38	cd06654	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	61	cd05622	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	36	cd06638	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	34	cd06636	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	38	cd06614	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	43	cd06635	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	39	cd06633	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	34	cd07850	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd07879	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	40	cd06639	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	61	cd05596	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd06618	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd07851	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	40	cd06658	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	38	cd06657	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	37_G	cd06659	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd06650	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05585	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	14	cd00180	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05072	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05123	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	14	cd05611	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05572	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05607	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05586	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05579	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05608	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05115	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05577	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06629	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05085	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd06632	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05593	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05570	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05060	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05604	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05603	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05620	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05592	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05617	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05588	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05618	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05619	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05078	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd00192	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05575	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05571	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05595	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05116	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05602	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05041	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05084	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd06630	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05040	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05047	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05590	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05591	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05594	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06626	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05627	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05599	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05629	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd07864	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07862	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07848	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd06608	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	26	cd05581	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06610	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07847	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd07871	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07846	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07833	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd07843	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07874	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05609	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05624	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05597	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05573	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05114	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05059	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd07873	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06622	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05580	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05601	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd08224	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07837	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05612	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05600	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd07872	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd06609	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06917	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05598	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06621	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05574	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08223	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08215	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08225	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06627	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd06606	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07863	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08220	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08530	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07836	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07839	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07860	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd06631	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08218	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08219	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07842	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd08221	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd06628	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08217	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05578	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07841	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd08528	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05631	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05632	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07832	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd07834	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05615	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05605	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05630	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07857	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07853	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05045	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd06651	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07859	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd05613	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05122	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	7	smart00220	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	10	cd05069	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd08216	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	6	cd05073	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05039	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22_G	cd05082	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd07845	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05049	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	36	cd05057	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05109	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05056	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05108	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05088	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd07858	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05110	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05038	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22_G	cd05083	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	37	cd06648	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd06607	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	31_G	cd06634	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	37	cd06647	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd07870	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd06653	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd07844	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	61	COG0515	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd07869	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd06642	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd06641	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd06640	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd07875	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd06652	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05628	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06605	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd06623	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06619	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05623	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06615	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	27	cd06645	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd06616	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd06643	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd06611	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06617	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	pfam07714	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	smart00219	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05034	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd06625	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08222	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd07830	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd05118	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd08229	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd07835	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	smart00221	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd07840	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07829	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	pfam00069	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08529	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd07838	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07861	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd07831	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd05614	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05148	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd08228	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd05589	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05587	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05616	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd05583	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd05074	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05035	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd05584	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd05582	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	40	cd07855	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	27	cd07866	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	26	cd06624	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd06637	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd06612	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd05089	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05079	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05081	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd07849	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd06613	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05080	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	30	cd07865	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	35	cd07877	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05111	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	61	cd05621	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd07880	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd07878	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd05101	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	37	cd06655	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	37	cd06656	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd06620	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	30	cd05099	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05048	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05092	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05050	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05036	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05094	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05061	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05062	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	27	cd06646	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05052	NULL
8573	186700629	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd06649	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07868	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07867	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	28	cd07856	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05093	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05071	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05067	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05090	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05070	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05068	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05065	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05097	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	31	cd05032	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05095	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05112	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05113	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	12	cd05633	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	12	cd05606	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd07852	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd07854	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	39	cd07876	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	30	cd06644	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	38	cd06654	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	36	cd06638	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	34	cd06636	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	38	cd06614	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	43	cd06635	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	39	cd06633	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	34	cd07850	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd07879	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	40	cd06639	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	61	cd05596	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd06618	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd07851	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	40	cd06658	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	61	cd05622	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	38	cd06657	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	37_G	cd06659	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd06650	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	14	cd00180	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05072	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05123	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	14	cd05611	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05572	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05607	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05579	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05585	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05586	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05608	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05115	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	11	cd05577	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06629	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05085	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd06632	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05593	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05570	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05060	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05617	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05618	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05604	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05602	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05603	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05620	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05592	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05588	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05619	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05078	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd00192	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05575	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05571	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05595	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05116	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05041	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05084	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd06630	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05040	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05047	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05594	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05590	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	13	cd05591	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06626	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd07864	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07862	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07848	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd06608	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	26	cd05581	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06610	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07847	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd07871	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07846	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07833	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd07843	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07874	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05609	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05597	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05624	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05573	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05114	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05059	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd07873	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06622	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05580	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05601	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd08224	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07837	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05612	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05600	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd07872	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd06609	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06917	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05629	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05627	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05598	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05599	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06621	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05574	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08223	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08215	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08225	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06627	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd06606	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07863	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08220	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08530	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07836	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07839	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07860	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd06631	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08218	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08219	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07842	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd08221	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd06628	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08217	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05578	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd07841	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd08528	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05631	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05632	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05615	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07832	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd07834	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05605	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05630	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07857	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07853	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05045	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd06651	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07859	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd05613	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05122	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	7	smart00220	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	10	cd05069	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08227	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd08216	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	6	cd05073	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05039	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22_G	cd05082	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd07845	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05049	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	36	cd05057	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05109	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05056	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05108	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05088	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd07858	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05110	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05038	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22_G	cd05083	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	37	cd06648	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd06607	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	31_G	cd06634	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	37	cd06647	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	61	COG0515	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd07870	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd06653	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd07844	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd07869	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd06642	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd06641	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd06640	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd07875	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd06652	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05628	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06605	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd06623	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06619	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd05623	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06615	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	27	cd06645	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd06616	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd06643	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd06611	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	cd06617	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	pfam07714	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	smart00219	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05034	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd06625	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08222	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd07830	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd05118	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd08229	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd07835	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	smart00221	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd07840	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07829	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	19	pfam00069	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd08529	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd07838	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd07861	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd07831	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05148	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd08228	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd05589	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05616	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd05583	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd05074	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05035	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	18	cd05587	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd05614	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd05582	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	17	cd05584	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	40	cd07855	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	27	cd07866	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	26	cd06624	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd06637	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd06612	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	20	cd05089	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05079	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	22	cd05081	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd07849	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	21	cd06613	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05080	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd07880	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd07878	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	30	cd07865	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	33	cd05101	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	35	cd07877	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	61	cd05621	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05111	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	37	cd06656	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	37	cd06655	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd06620	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	30	cd05099	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05048	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd05092	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05050	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05036	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	25	cd05094	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05061	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	23	cd06649	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05062	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	27	cd06646	NULL
8573	186972120	Disease	p.Arg28Leu	300172.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	FG SYNDROME 4	OMIM	24	cd05052	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	280	smart00750	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	309	cd07868	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	309	cd07867	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	283	cd07856	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	270	cd05093	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250	cd05071	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05067	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250	cd05070	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd05068	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	246_G	cd05065	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	288	cd05097	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	318	cd05032	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	282	cd05095	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	231	cd05112	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250	cd05113	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250	cd05633	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	247	cd05606	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	310	cd07852	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	318	cd07854	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	310	cd07876	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06644	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	265	cd06654	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	278	cd06638	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	274	cd06636	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	303	cd06614	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	272	cd06635	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	268	cd06633	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	313	cd07850	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	303	cd07879	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	289	cd06639	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	300	cd05596	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	277	cd06618	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	318	cd07851	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	267	cd06658	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	299	cd05622	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	265	cd06657	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd06659	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	252	cd06650	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	865	cd00180	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	255	cd05072	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	923	cd05123	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	449	cd05611	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	334	cd05572	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	246	cd05607	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	819	cd05579	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	242	cd05585	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	248	cd05586	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	252	cd05608	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	240	cd05115	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	252	cd05577	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	270	cd06629	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	243	cd05085	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	275	cd06632	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	246	cd05593	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	253	cd05570	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	249	cd05617	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250_G	cd05618	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	246	cd05604	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	246	cd05602	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	246	cd05603	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd05620	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	271	cd05592	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	251	cd05588	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	242	cd05619	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd05078	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	520	cd00192	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	243	cd05575	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	247	cd05571	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	246	cd05595	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	245	cd05116	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	249	cd05041	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	247	cd05084	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	260	cd06630	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05047	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	247	cd05594	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	242	cd05590	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	242	cd05591	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	300	cd06626	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	298	cd07864	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	287	cd07862	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	308	cd07848	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	302	cd06608	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	538	cd05581	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	284	cd06610	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	296	cd07847	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	280	cd07871	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	299	cd07846	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	363	cd07833	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	332	cd07843	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	306	cd07874	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	280	cd05609	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd05597	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	269	cd05624	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	441	cd05573	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	249	cd05114	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	281	cd07873	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	276	cd06622	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	320	cd05580	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd05601	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	261	cd08224	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	294	cd07837	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	245	cd05612	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	332	cd05600	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	281	cd07872	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	287	cd06609	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	265	cd06917	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	309_G	cd05629	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	288	cd05627	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	319	cd05598	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	473	cd05599	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	270	cd06621	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	354	cd05574	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	249	cd08223	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	330	cd08215	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	249	cd08225	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	295	cd06627	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	422	cd06606	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	283	cd07863	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	257	cd08220	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd08530	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	287	cd07836	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	278	cd07839	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	276	cd07860	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd06631	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	248	cd08218	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	247	cd08219	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	430	cd07842	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	261	cd08221	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06628	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	321	cd08217	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	281	cd05578	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	329	cd07841	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	274	cd08528	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	251	cd05631	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	251	cd05632	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	260	cd05615	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	306	cd07832	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	453	cd07834	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	251	cd05605	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd05630	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	297	cd07857	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	295	cd07853	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	277	cd05045	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd06651	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	290	cd07859	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	276	cd05613	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	347	cd05122	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	1222	smart00220	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250	cd05069	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	260	cd08227	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	306	cd08216	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	258	cd05073	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	261	cd05039	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250	cd05082	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	308	cd07845	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	295	cd05049	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	316	cd05057	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05109	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	291	cd05056	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05108	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	274	cd05088	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	292	cd07858	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05110	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	302	cd05038	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	244	cd05083	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd06648	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	268	cd06607	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06634	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06647	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	1177	COG0515	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	287	cd07870	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	261	cd06653	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	289	cd07844	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	283	cd07869	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	248	cd06642	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	248	cd06641	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	248	cd06640	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	313	cd07875	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	280	cd06652	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	296	cd05628	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	333	cd06605	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	333	cd06623	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	278	cd06619	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	261	cd05623	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	297	cd06615	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	260	cd06645	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	274	cd06616	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	257	cd06643	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd06611	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	263	cd06617	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	482	pfam07714	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	701	smart00219	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	267	cd05034	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	258	cd06625	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	253	cd08222	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	389	cd07830	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	303	cd05118	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd08229	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	308	cd07835	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	1075	smart00221	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	412	cd07840	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	357	cd07829	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	466	pfam00069	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	257	cd08529	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	347	cd07838	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	285	cd07861	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	292	cd07831	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	269	cd05148	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd08228	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	252	cd05589	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	247	cd05616	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05583	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd05074	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	277	cd05035	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	252	cd05587	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	257	cd05614	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	244	cd05582	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	255	cd05584	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	326	cd07855	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	345	cd07866	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	265	cd06624	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06637	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	271	cd06612	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd05089	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd05079	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd05081	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	318	cd07849	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	261	cd06613	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	254	cd05080	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	293	cd07880	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	293	cd07878	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	346	cd07865	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	295	cd07877	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	299	cd05621	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05111	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06656	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06655	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	319	cd06620	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	287	cd05099	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	274	cd05092	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	286	cd05050	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	275	cd05036	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	295	cd05094	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	270	cd05061	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	254	cd06649	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	269	cd05062	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	260	cd06646	NULL
8573	186700627	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd05052	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	280	smart00750	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	309	cd07868	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	309	cd07867	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	283	cd07856	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	270	cd05093	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250	cd05071	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05067	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250	cd05070	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd05068	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	246_G	cd05065	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	288	cd05097	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	318	cd05032	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	282	cd05095	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	231	cd05112	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250	cd05113	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250	cd05633	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	247	cd05606	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	310	cd07852	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	318	cd07854	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	310	cd07876	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06644	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	265	cd06654	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	299	cd05622	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	278	cd06638	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	274	cd06636	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	303	cd06614	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	272	cd06635	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	268	cd06633	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	313	cd07850	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	303	cd07879	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	289	cd06639	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	300	cd05596	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	277	cd06618	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	318	cd07851	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	267	cd06658	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	265	cd06657	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd06659	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	252	cd06650	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	242	cd05585	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	865	cd00180	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	255	cd05072	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	923	cd05123	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	449	cd05611	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	334	cd05572	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	246	cd05607	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	248	cd05586	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	819	cd05579	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	252	cd05608	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	240	cd05115	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	252	cd05577	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	270	cd06629	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	243	cd05085	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	275	cd06632	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	246	cd05593	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	253	cd05570	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	246	cd05604	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	246	cd05603	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd05620	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	271	cd05592	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	249	cd05617	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	251	cd05588	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250_G	cd05618	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	242	cd05619	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd05078	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	520	cd00192	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	243	cd05575	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	247	cd05571	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	246	cd05595	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	245	cd05116	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	242	cd05602	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	249	cd05041	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	247	cd05084	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	260	cd06630	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05047	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	242	cd05590	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	242	cd05591	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	247	cd05594	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	300	cd06626	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	288	cd05627	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	473	cd05599	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	309_G	cd05629	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	298	cd07864	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	287	cd07862	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	308	cd07848	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	302	cd06608	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	538	cd05581	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	284	cd06610	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	296	cd07847	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	280	cd07871	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	299	cd07846	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	363	cd07833	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	332	cd07843	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	306	cd07874	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	280	cd05609	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	269	cd05624	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd05597	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	441	cd05573	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	249	cd05114	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	281	cd07873	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	276	cd06622	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	320	cd05580	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd05601	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	261	cd08224	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	294	cd07837	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	245	cd05612	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	332	cd05600	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	281	cd07872	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	287	cd06609	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	265	cd06917	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	319	cd05598	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	270	cd06621	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	354	cd05574	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	249	cd08223	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	330	cd08215	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	249	cd08225	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	295	cd06627	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	422	cd06606	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	283	cd07863	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	257	cd08220	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd08530	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	287	cd07836	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	278	cd07839	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	276	cd07860	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd06631	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	248	cd08218	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	247	cd08219	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	430	cd07842	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	261	cd08221	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06628	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	321	cd08217	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	281	cd05578	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	329	cd07841	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	274	cd08528	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	251	cd05631	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	251	cd05632	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	306	cd07832	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	453	cd07834	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	247	cd05615	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	251	cd05605	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd05630	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	297	cd07857	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	295	cd07853	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	277	cd05045	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd06651	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	290	cd07859	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	276	cd05613	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	347	cd05122	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	1222	smart00220	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250	cd05069	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	306	cd08216	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	258	cd05073	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	261	cd05039	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250	cd05082	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	308	cd07845	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	295	cd05049	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	316	cd05057	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05109	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	291	cd05056	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05108	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	274	cd05088	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	292	cd07858	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05110	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	302	cd05038	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	244	cd05083	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd06648	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	268	cd06607	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06634	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06647	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	287	cd07870	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	261	cd06653	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	289	cd07844	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	1177	COG0515	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	283	cd07869	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	248	cd06642	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	248	cd06641	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	248	cd06640	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	313	cd07875	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	280	cd06652	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	296	cd05628	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	333	cd06605	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	333	cd06623	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	278	cd06619	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	261	cd05623	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	297	cd06615	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	260	cd06645	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	274	cd06616	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	257	cd06643	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd06611	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	263	cd06617	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	482	pfam07714	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	701	smart00219	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	267	cd05034	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	258	cd06625	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	253	cd08222	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	389	cd07830	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	303	cd05118	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd08229	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	308	cd07835	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	1075	smart00221	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	412	cd07840	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	357	cd07829	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	466	pfam00069	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	257	cd08529	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	347	cd07838	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	285	cd07861	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	292	cd07831	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	257	cd05614	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	269	cd05148	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd08228	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	252	cd05589	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	252	cd05587	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	247	cd05616	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05583	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd05074	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	277	cd05035	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	255	cd05584	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	244	cd05582	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	326	cd07855	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	345	cd07866	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	265	cd06624	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06637	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	271	cd06612	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd05089	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd05079	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd05081	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	318	cd07849	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	261	cd06613	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	254	cd05080	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	346	cd07865	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	295	cd07877	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05111	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	299	cd05621	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	293	cd07880	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	293	cd07878	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06655	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06656	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	319	cd06620	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	287	cd05099	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	274	cd05092	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	286	cd05050	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	275	cd05036	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	295	cd05094	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	270	cd05061	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	269	cd05062	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	260	cd06646	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd05052	NULL
8573	186700629	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	254	cd06649	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	280	smart00750	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	309	cd07868	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	309	cd07867	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	283	cd07856	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	270	cd05093	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250	cd05071	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05067	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250	cd05070	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd05068	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	246_G	cd05065	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	288	cd05097	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	318	cd05032	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	282	cd05095	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	231	cd05112	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250	cd05113	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250	cd05633	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	247	cd05606	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	310	cd07852	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	318	cd07854	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	310	cd07876	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06644	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	265	cd06654	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	278	cd06638	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	274	cd06636	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	303	cd06614	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	272	cd06635	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	268	cd06633	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	313	cd07850	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	303	cd07879	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	289	cd06639	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	300	cd05596	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	277	cd06618	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	318	cd07851	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	267	cd06658	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	299	cd05622	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	265	cd06657	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd06659	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	252	cd06650	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	865	cd00180	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	255	cd05072	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	923	cd05123	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	449	cd05611	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	334	cd05572	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	246	cd05607	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	819	cd05579	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	242	cd05585	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	248	cd05586	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	252	cd05608	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	240	cd05115	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	252	cd05577	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	270	cd06629	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	243	cd05085	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	275	cd06632	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	246	cd05593	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	253	cd05570	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	249	cd05617	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250_G	cd05618	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	246	cd05604	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	246	cd05602	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	246	cd05603	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd05620	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	271	cd05592	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	251	cd05588	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	242	cd05619	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd05078	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	520	cd00192	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	243	cd05575	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	247	cd05571	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	246	cd05595	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	245	cd05116	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	249	cd05041	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	247	cd05084	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	260	cd06630	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05047	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	247	cd05594	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	242	cd05590	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	242	cd05591	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	300	cd06626	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	298	cd07864	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	287	cd07862	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	308	cd07848	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	302	cd06608	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	538	cd05581	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	284	cd06610	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	296	cd07847	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	280	cd07871	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	299	cd07846	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	363	cd07833	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	332	cd07843	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	306	cd07874	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	280	cd05609	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd05597	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	269	cd05624	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	441	cd05573	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	249	cd05114	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	281	cd07873	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	276	cd06622	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	320	cd05580	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd05601	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	261	cd08224	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	294	cd07837	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	245	cd05612	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	332	cd05600	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	281	cd07872	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	287	cd06609	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	265	cd06917	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	309_G	cd05629	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	288	cd05627	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	319	cd05598	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	473	cd05599	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	270	cd06621	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	354	cd05574	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	249	cd08223	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	330	cd08215	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	249	cd08225	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	295	cd06627	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	422	cd06606	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	283	cd07863	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	257	cd08220	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd08530	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	287	cd07836	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	278	cd07839	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	276	cd07860	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd06631	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	248	cd08218	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	247	cd08219	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	430	cd07842	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	261	cd08221	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06628	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	321	cd08217	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	281	cd05578	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	329	cd07841	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	274	cd08528	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	251	cd05631	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	251	cd05632	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	260	cd05615	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	306	cd07832	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	453	cd07834	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	251	cd05605	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd05630	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	297	cd07857	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	295	cd07853	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	277	cd05045	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd06651	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	290	cd07859	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	276	cd05613	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	347	cd05122	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	1222	smart00220	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250	cd05069	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	260	cd08227	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	306	cd08216	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	258	cd05073	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	261	cd05039	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	250	cd05082	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	308	cd07845	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	295	cd05049	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	316	cd05057	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05109	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	291	cd05056	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05108	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	274	cd05088	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	292	cd07858	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05110	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	302	cd05038	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	244	cd05083	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd06648	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	268	cd06607	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06634	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06647	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	1177	COG0515	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	287	cd07870	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	261	cd06653	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	289	cd07844	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	283	cd07869	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	248	cd06642	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	248	cd06641	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	248	cd06640	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	313	cd07875	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	280	cd06652	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	296	cd05628	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	333	cd06605	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	333	cd06623	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	278	cd06619	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	261	cd05623	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	297	cd06615	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	260	cd06645	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	274	cd06616	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	257	cd06643	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd06611	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	263	cd06617	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	482	pfam07714	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	701	smart00219	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	267	cd05034	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	258	cd06625	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	253	cd08222	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	389	cd07830	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	303	cd05118	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd08229	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	308	cd07835	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	1075	smart00221	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	412	cd07840	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	357	cd07829	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	466	pfam00069	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	257	cd08529	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	347	cd07838	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	285	cd07861	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	292	cd07831	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	269	cd05148	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd08228	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	252	cd05589	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	247	cd05616	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05583	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd05074	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	277	cd05035	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	252	cd05587	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	257	cd05614	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	244	cd05582	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	255	cd05584	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	326	cd07855	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	345	cd07866	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	265	cd06624	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06637	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	271	cd06612	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	266	cd05089	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd05079	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd05081	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	318	cd07849	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	261	cd06613	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	254	cd05080	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	293	cd07880	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	293	cd07878	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	346	cd07865	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	295	cd07877	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	299	cd05621	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	259	cd05111	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06656	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	264	cd06655	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	319	cd06620	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	287	cd05099	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	274	cd05092	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	286	cd05050	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	275	cd05036	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	295	cd05094	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	270	cd05061	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	254	cd06649	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	269	cd05062	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	260	cd06646	NULL
8573	186972120	Disease	p.Tyr268His	300172.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	256	cd05052	NULL
8573	186700627	Disease	p.Asp710Gly	300172.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	17	COG0194	NULL
8573	186700629	Disease	p.Asp710Gly	300172.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	2	smart00072	NULL
8573	186700629	Disease	p.Asp710Gly	300172.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	18	COG0194	NULL
8573	186972120	Disease	p.Asp710Gly	300172.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	No Domain	N/A	NULL
8573	186700627	Disease	p.Trp914Arg	300172.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	No Domain	N/A	NULL
8573	186700629	Disease	p.Trp914Arg	300172.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	No Domain	N/A	NULL
8573	186972120	Disease	p.Trp914Arg	300172.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	227	COG0194	NULL
8573	186700627	Disease	p.Pro396Ser	300172.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	94	smart00569	NULL
8573	186700627	Disease	p.Pro396Ser	300172.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	55	pfam02828	NULL
8573	186700627	Disease	p.Pro396Ser	300172.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	1366	COG0515	NULL
8573	186700629	Disease	p.Pro396Ser	300172.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	1333	COG0515	NULL
8573	186972120	Disease	p.Pro396Ser	300172.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	94	smart00569	NULL
8573	186972120	Disease	p.Pro396Ser	300172.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	55	pfam02828	NULL
8573	186972120	Disease	p.Pro396Ser	300172.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172	MENTAL RETARDATION, X-LINKED, CASK-RELATED	OMIM	1366	COG0515	NULL
8481	12643319	Disease	p.Ser434Arg	300170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300170	OROFACIODIGITAL SYNDROME I	OMIM	No Domain	N/A	4503179,NP_003602
3075	62739188	Disease	p.Trp122Ser	300163.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT	OMIM	59	cd00033	NULL
3075	62739188	Disease	p.Trp122Ser	300163.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT	OMIM	54	pfam00084	NULL
3075	62739188	Disease	p.Trp122Ser	300163.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT	OMIM	68	smart00032	NULL
3075	62739186	Disease	p.Trp122Ser	300163.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT	OMIM	59	cd00033	NULL
3075	62739186	Disease	p.Trp122Ser	300163.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT	OMIM	54	pfam00084	NULL
3075	62739186	Disease	p.Trp122Ser	300163.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT	OMIM	68	smart00032	NULL
3075	62739188	Disease	p.Cys224Trp	300163.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY	OMIM	32	cd00033	NULL
3075	62739188	Disease	p.Cys224Trp	300163.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY	OMIM	24	pfam00084	NULL
3075	62739188	Disease	p.Cys224Trp	300163.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY	OMIM	25	smart00032	NULL
3075	62739186	Disease	p.Cys224Trp	300163.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY	OMIM	32	cd00033	NULL
3075	62739186	Disease	p.Cys224Trp	300163.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY	OMIM	24	pfam00084	NULL
3075	62739186	Disease	p.Cys224Trp	300163.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY	OMIM	25	smart00032	NULL
3075	62739188	Disease	p.His123Tyr	300163.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	67	cd00033	NULL
3075	62739188	Disease	p.His123Tyr	300163.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	61	pfam00084	NULL
3075	62739188	Disease	p.His123Tyr	300163.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	69	smart00032	NULL
3075	62739186	Disease	p.His123Tyr	300163.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	67	cd00033	NULL
3075	62739186	Disease	p.His123Tyr	300163.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	61	pfam00084	NULL
3075	62739186	Disease	p.His123Tyr	300163.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	69	smart00032	NULL
3075	62739188	Disease	p.Cys132Phe	300163.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	82	cd00033	NULL
3075	62739188	Disease	p.Cys132Phe	300163.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	81	pfam00084	NULL
3075	62739188	Disease	p.Cys132Phe	300163.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	93	smart00032	NULL
3075	62739186	Disease	p.Cys132Phe	300163.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	82	cd00033	NULL
3075	62739186	Disease	p.Cys132Phe	300163.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	81	pfam00084	NULL
3075	62739186	Disease	p.Cys132Phe	300163.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	93	smart00032	NULL
3075	62739188	Disease	p.Cys153Arg	300163.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET	OMIM	15	pfam00084	NULL
3075	62739188	Disease	p.Cys153Arg	300163.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET	OMIM	13	smart00032	NULL
3075	62739188	Disease	p.Cys153Arg	300163.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET	OMIM	8	cd00033	NULL
3075	62739186	Disease	p.Cys153Arg	300163.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET	OMIM	15	pfam00084	NULL
3075	62739186	Disease	p.Cys153Arg	300163.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET	OMIM	13	smart00032	NULL
3075	62739186	Disease	p.Cys153Arg	300163.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET	OMIM	8	cd00033	NULL
3075	62739188	Disease	p.Cys153Tyr	300163.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET	OMIM	15	pfam00084	NULL
3075	62739188	Disease	p.Cys153Tyr	300163.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET	OMIM	13	smart00032	NULL
3075	62739188	Disease	p.Cys153Tyr	300163.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET	OMIM	8	cd00033	NULL
3075	62739186	Disease	p.Cys153Tyr	300163.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET	OMIM	15	pfam00084	NULL
3075	62739186	Disease	p.Cys153Tyr	300163.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET	OMIM	13	smart00032	NULL
3075	62739186	Disease	p.Cys153Tyr	300163.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET	OMIM	8	cd00033	NULL
3075	62739188	Disease	p.Cys150Tyr	300163.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	12	pfam00084	NULL
3075	62739188	Disease	p.Cys150Tyr	300163.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	5	smart00032	NULL
3075	62739188	Disease	p.Cys150Tyr	300163.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	5	cd00033	NULL
3075	62739186	Disease	p.Cys150Tyr	300163.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	12	pfam00084	NULL
3075	62739186	Disease	p.Cys150Tyr	300163.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	5	smart00032	NULL
3075	62739186	Disease	p.Cys150Tyr	300163.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	5	cd00033	NULL
3075	62739188	Disease	p.Cys104Arg	300163.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET	OMIM	35	cd00033	NULL
3075	62739188	Disease	p.Cys104Arg	300163.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET	OMIM	34	pfam00084	NULL
3075	62739188	Disease	p.Cys104Arg	300163.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET	OMIM	39	smart00032	NULL
3075	62739186	Disease	p.Cys104Arg	300163.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET	OMIM	35	cd00033	NULL
3075	62739186	Disease	p.Cys104Arg	300163.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET	OMIM	34	pfam00084	NULL
3075	62739186	Disease	p.Cys104Arg	300163.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET	OMIM	39	smart00032	NULL
3075	62739188	Disease	p.Cys209Arg	300163.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	EMERY-DREIFUSS MUSCULAR DYSTROPHY 6	OMIM	No Domain	N/A	NULL
3075	62739186	Disease	p.Cys209Arg	300163.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	EMERY-DREIFUSS MUSCULAR DYSTROPHY 6	OMIM	No Domain	N/A	NULL
3075	62739188	Disease	p.Val280Met	300163.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY	OMIM	24	pfam00084	NULL
3075	62739188	Disease	p.Val280Met	300163.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY	OMIM	22	smart00032	NULL
3075	62739188	Disease	p.Val280Met	300163.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY	OMIM	23	cd00033	NULL
3075	62739186	Disease	p.Val280Met	300163.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY	OMIM	24	pfam00084	NULL
3075	62739186	Disease	p.Val280Met	300163.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY	OMIM	22	smart00032	NULL
3075	62739186	Disease	p.Val280Met	300163.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY	OMIM	23	cd00033	NULL
3075	62739188	Disease	p.His123Leu	300163.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	67	cd00033	NULL
3075	62739188	Disease	p.His123Leu	300163.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	61	pfam00084	NULL
3075	62739188	Disease	p.His123Leu	300163.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	69	smart00032	NULL
3075	62739186	Disease	p.His123Leu	300163.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	67	cd00033	NULL
3075	62739186	Disease	p.His123Leu	300163.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	61	pfam00084	NULL
3075	62739186	Disease	p.His123Leu	300163.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	69	smart00032	NULL
3075	62739188	Disease	p.His123Gln	300163.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	67	cd00033	NULL
3075	62739188	Disease	p.His123Gln	300163.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	61	pfam00084	NULL
3075	62739188	Disease	p.His123Gln	300163.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	69	smart00032	NULL
3075	62739186	Disease	p.His123Gln	300163.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	67	cd00033	NULL
3075	62739186	Disease	p.His123Gln	300163.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	61	pfam00084	NULL
3075	62739186	Disease	p.His123Gln	300163.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300163	MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET	OMIM	69	smart00032	NULL
2182	4758332	Disease	p.Arg529Ser	300157.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300157	MENTAL RETARDATION, X-LINKED 63	OMIM	566	COG1022	NULL
2182	4758332	Disease	p.Arg529Ser	300157.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300157	MENTAL RETARDATION, X-LINKED 63	OMIM	1220	COG0318	NULL
2182	4758332	Disease	p.Arg529Ser	300157.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300157	MENTAL RETARDATION, X-LINKED 63	OMIM	759	pfam00501	NULL
2182	4758332	Disease	p.Arg529Ser	300157.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300157	MENTAL RETARDATION, X-LINKED 63	OMIM	523	COG0365	NULL
2182	13432172	Disease	p.Arg529Ser	300157.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300157	MENTAL RETARDATION, X-LINKED 63	OMIM	472	COG0365	12669909,NP_075266
2182	13432172	Disease	p.Arg529Ser	300157.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300157	MENTAL RETARDATION, X-LINKED 63	OMIM	680	pfam00501	12669909,NP_075266
2182	13432172	Disease	p.Arg529Ser	300157.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300157	MENTAL RETARDATION, X-LINKED 63	OMIM	525	COG1022	12669909,NP_075266
2182	13432172	Disease	p.Arg529Ser	300157.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300157	MENTAL RETARDATION, X-LINKED 63	OMIM	1027	COG0318	12669909,NP_075266
2182	4758332	Disease	p.Pro375Leu	300157.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300157	MENTAL RETARDATION, X-LINKED 68	OMIM	374	COG1022	NULL
2182	4758332	Disease	p.Pro375Leu	300157.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300157	MENTAL RETARDATION, X-LINKED 68	OMIM	583_G	COG0318	NULL
2182	4758332	Disease	p.Pro375Leu	300157.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300157	MENTAL RETARDATION, X-LINKED 68	OMIM	434	pfam00501	NULL
2182	4758332	Disease	p.Pro375Leu	300157.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300157	MENTAL RETARDATION, X-LINKED 68	OMIM	342_G	COG0365	NULL
2182	13432172	Disease	p.Pro375Leu	300157.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300157	MENTAL RETARDATION, X-LINKED 68	OMIM	327	COG0365	12669909,NP_075266
2182	13432172	Disease	p.Pro375Leu	300157.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300157	MENTAL RETARDATION, X-LINKED 68	OMIM	390	pfam00501	12669909,NP_075266
2182	13432172	Disease	p.Pro375Leu	300157.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300157	MENTAL RETARDATION, X-LINKED 68	OMIM	330	COG1022	12669909,NP_075266
2182	13432172	Disease	p.Pro375Leu	300157.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300157	MENTAL RETARDATION, X-LINKED 68	OMIM	538	COG0318	12669909,NP_075266
8874	22027528	Disease	p.Arg67Cys	300142.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	172	smart00033	NULL
8874	22027528	Disease	p.Arg67Cys	300142.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	181	pfam00307	NULL
8874	22027528	Disease	p.Arg67Cys	300142.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	89	cd00014	NULL
8874	50403776	Disease	p.Arg67Cys	300142.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	172	smart00033	166064034,NP_001106983
8874	50403776	Disease	p.Arg67Cys	300142.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	181	pfam00307	166064034,NP_001106983
8874	50403776	Disease	p.Arg67Cys	300142.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	89	cd00014	166064034,NP_001106983
8874	4505573	Disease	p.Arg67Cys	300142.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	No Domain	N/A	NULL
8874	166064036	Disease	p.Arg67Cys	300142.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	174	smart00033	NULL
8874	166064038	Disease	p.Arg67Cys	300142.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	No Domain	N/A	NULL
8874	22027528	Disease	p.Ala365Glu	300142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	164	cd00160	NULL
8874	22027528	Disease	p.Ala365Glu	300142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	240	smart00325	NULL
8874	22027528	Disease	p.Ala365Glu	300142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	464	pfam00621	NULL
8874	50403776	Disease	p.Ala365Glu	300142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	132	cd00160	166064034,NP_001106983
8874	50403776	Disease	p.Ala365Glu	300142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	371	pfam00621	166064034,NP_001106983
8874	50403776	Disease	p.Ala365Glu	300142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	205	smart00325	166064034,NP_001106983
8874	4505573	Disease	p.Ala365Glu	300142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	290	cd00821	NULL
8874	4505573	Disease	p.Ala365Glu	300142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	344	cd00900	NULL
8874	4505573	Disease	p.Ala365Glu	300142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	75	cd01225	NULL
8874	4505573	Disease	p.Ala365Glu	300142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	237	pfam00169	NULL
8874	4505573	Disease	p.Ala365Glu	300142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	653	smart00233	NULL
8874	166064036	Disease	p.Ala365Glu	300142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	285	smart00325	NULL
8874	166064036	Disease	p.Ala365Glu	300142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	525	pfam00621	NULL
8874	166064036	Disease	p.Ala365Glu	300142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	200	cd00160	NULL
8874	166064038	Disease	p.Ala365Glu	300142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	290	cd00821	NULL
8874	166064038	Disease	p.Ala365Glu	300142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	344	cd00900	NULL
8874	166064038	Disease	p.Ala365Glu	300142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	75	cd01225	NULL
8874	166064038	Disease	p.Ala365Glu	300142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	237	pfam00169	NULL
8874	166064038	Disease	p.Ala365Glu	300142.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	653	smart00233	NULL
8874	22027528	Disease	p.Trp446Ser	300142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	No Domain	N/A	NULL
8874	50403776	Disease	p.Trp446Ser	300142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	235	cd00160	166064034,NP_001106983
8874	50403776	Disease	p.Trp446Ser	300142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	594	pfam00621	166064034,NP_001106983
8874	50403776	Disease	p.Trp446Ser	300142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	342	smart00325	166064034,NP_001106983
8874	4505573	Disease	p.Trp446Ser	300142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	No Domain	N/A	NULL
8874	166064036	Disease	p.Trp446Ser	300142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	35	cd00821	NULL
8874	166064036	Disease	p.Trp446Ser	300142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	214	cd00900	NULL
8874	166064036	Disease	p.Trp446Ser	300142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	41	pfam00169	NULL
8874	166064036	Disease	p.Trp446Ser	300142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	103	smart00233	NULL
8874	166064036	Disease	p.Trp446Ser	300142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	28	cd01225	NULL
8874	166064038	Disease	p.Trp446Ser	300142.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300142	MENTAL RETARDATION, X-LINKED 30	OMIM	No Domain	N/A	NULL
22	42490749	Disease	p.Ile400Met	300135.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	3	cd03288	NULL
22	42490749	Disease	p.Ile400Met	300135.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	301	COG4618	NULL
22	42490749	Disease	p.Ile400Met	300135.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	781	COG1132	NULL
22	42490749	Disease	p.Ile400Met	300135.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	439	COG2274	NULL
22	42490749	Disease	p.Ile400Met	300135.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	348	pfam00664	NULL
22	42490749	Disease	p.Ile400Met	300135.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	509	COG4178	NULL
22	42490749	Disease	p.Ile400Met	300135.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	116_G	COG4172	NULL
22	42490749	Disease	p.Ile400Met	300135.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	249_G	COG4988	NULL
22	42490749	Disease	p.Ile400Met	300135.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	277	COG4987	NULL
22	42490749	Disease	p.Ile400Met	300135.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	263	COG4615	NULL
22	42490749	Disease	p.Ile400Met	300135.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	191	COG5265	NULL
22	42490749	Disease	p.Ile400Met	300135.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	320_G	COG1123	NULL
22	42490749	Disease	p.Ile400Met	300135.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	333	COG0488	NULL
22	42490749	Disease	p.Glu433Lys	300135.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	33	cd03288	NULL
22	42490749	Disease	p.Glu433Lys	300135.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	329_G	COG4618	NULL
22	42490749	Disease	p.Glu433Lys	300135.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	873	COG1132	NULL
22	42490749	Disease	p.Glu433Lys	300135.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	478	COG2274	NULL
22	42490749	Disease	p.Glu433Lys	300135.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	542	COG4178	NULL
22	42490749	Disease	p.Glu433Lys	300135.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	206	COG4172	NULL
22	42490749	Disease	p.Glu433Lys	300135.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	290	COG4988	NULL
22	42490749	Disease	p.Glu433Lys	300135.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	314	COG4987	NULL
22	42490749	Disease	p.Glu433Lys	300135.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	292	COG4615	NULL
22	42490749	Disease	p.Glu433Lys	300135.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	224	COG5265	NULL
22	42490749	Disease	p.Glu433Lys	300135.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	348	COG1123	NULL
22	42490749	Disease	p.Glu433Lys	300135.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	378	COG0488	NULL
22	42490749	Disease	p.Val411Leu	300135.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	13	cd03288	NULL
22	42490749	Disease	p.Val411Leu	300135.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	319	COG4618	NULL
22	42490749	Disease	p.Val411Leu	300135.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	835	COG1132	NULL
22	42490749	Disease	p.Val411Leu	300135.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	456	COG2274	NULL
22	42490749	Disease	p.Val411Leu	300135.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	364	pfam00664	NULL
22	42490749	Disease	p.Val411Leu	300135.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	520	COG4178	NULL
22	42490749	Disease	p.Val411Leu	300135.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	126	COG4172	NULL
22	42490749	Disease	p.Val411Leu	300135.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	263	COG4988	NULL
22	42490749	Disease	p.Val411Leu	300135.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	289	COG4987	NULL
22	42490749	Disease	p.Val411Leu	300135.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	273	COG4615	NULL
22	42490749	Disease	p.Val411Leu	300135.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	202	COG5265	NULL
22	42490749	Disease	p.Val411Leu	300135.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	326	COG1123	NULL
22	42490749	Disease	p.Val411Leu	300135.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	OMIM	354	COG0488	NULL
1736	215599015	Disease	p.Phe36Val	300126.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED	OMIM	No Domain	N/A	NULL
1736	3913488	Disease	p.Phe36Val	300126.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED	OMIM	No Domain	N/A	4503337,NP_001354
1736	215599015	Disease	p.Pro40Arg	300126.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED	OMIM	No Domain	N/A	NULL
1736	3913488	Disease	p.Pro40Arg	300126.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED	OMIM	No Domain	N/A	4503337,NP_001354
1736	215599015	Disease	p.Leu72Tyr	300126.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED	OMIM	5	COG0130	NULL
1736	215599015	Disease	p.Leu72Tyr	300126.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED	OMIM	27	pfam08068	NULL
1736	3913488	Disease	p.Leu72Tyr	300126.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED	OMIM	5	COG0130	4503337,NP_001354
1736	3913488	Disease	p.Leu72Tyr	300126.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED	OMIM	27	pfam08068	4503337,NP_001354
1736	215599015	Disease	p.Gly402Glu	300126.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED	OMIM	No Domain	N/A	NULL
1736	3913488	Disease	p.Gly402Glu	300126.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED	OMIM	No Domain	N/A	4503337,NP_001354
1736	215599015	Disease	p.Ala353Val	300126.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED||HOYERAAL-HREIDARSSON SYNDROME	OMIM	444	COG0130	NULL
1736	215599015	Disease	p.Ala353Val	300126.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED||HOYERAAL-HREIDARSSON SYNDROME	OMIM	78	smart00359	NULL
1736	215599015	Disease	p.Ala353Val	300126.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED||HOYERAAL-HREIDARSSON SYNDROME	OMIM	79	pfam01472	NULL
1736	3913488	Disease	p.Ala353Val	300126.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED||HOYERAAL-HREIDARSSON SYNDROME	OMIM	444	COG0130	4503337,NP_001354
1736	3913488	Disease	p.Ala353Val	300126.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED||HOYERAAL-HREIDARSSON SYNDROME	OMIM	78	smart00359	4503337,NP_001354
1736	3913488	Disease	p.Ala353Val	300126.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED||HOYERAAL-HREIDARSSON SYNDROME	OMIM	79	pfam01472	4503337,NP_001354
1736	215599015	Disease	p.Thr49Met	300126.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	HOYERAAL-HREIDARSSON SYNDROME||DYSKERATOSIS CONGENITA, X-LINKED	OMIM	2	pfam08068	NULL
1736	3913488	Disease	p.Thr49Met	300126.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	HOYERAAL-HREIDARSSON SYNDROME||DYSKERATOSIS CONGENITA, X-LINKED	OMIM	2	pfam08068	4503337,NP_001354
1736	215599015	Disease	p.Ser121Gly	300126.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	HOYERAAL-HREIDARSSON SYNDROME	OMIM	38	cd02573	NULL
1736	215599015	Disease	p.Ser121Gly	300126.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	HOYERAAL-HREIDARSSON SYNDROME	OMIM	83	cd00506	NULL
1736	215599015	Disease	p.Ser121Gly	300126.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	HOYERAAL-HREIDARSSON SYNDROME	OMIM	34	cd02572	NULL
1736	215599015	Disease	p.Ser121Gly	300126.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	HOYERAAL-HREIDARSSON SYNDROME	OMIM	81	cd01291	NULL
1736	215599015	Disease	p.Ser121Gly	300126.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	HOYERAAL-HREIDARSSON SYNDROME	OMIM	84	COG0130	NULL
1736	215599015	Disease	p.Ser121Gly	300126.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	HOYERAAL-HREIDARSSON SYNDROME	OMIM	27	pfam01509	NULL
1736	3913488	Disease	p.Ser121Gly	300126.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	HOYERAAL-HREIDARSSON SYNDROME	OMIM	38	cd02573	4503337,NP_001354
1736	3913488	Disease	p.Ser121Gly	300126.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	HOYERAAL-HREIDARSSON SYNDROME	OMIM	83	cd00506	4503337,NP_001354
1736	3913488	Disease	p.Ser121Gly	300126.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	HOYERAAL-HREIDARSSON SYNDROME	OMIM	34	cd02572	4503337,NP_001354
1736	3913488	Disease	p.Ser121Gly	300126.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	HOYERAAL-HREIDARSSON SYNDROME	OMIM	81	cd01291	4503337,NP_001354
1736	3913488	Disease	p.Ser121Gly	300126.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	HOYERAAL-HREIDARSSON SYNDROME	OMIM	84	COG0130	4503337,NP_001354
1736	3913488	Disease	p.Ser121Gly	300126.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	HOYERAAL-HREIDARSSON SYNDROME	OMIM	27	pfam01509	4503337,NP_001354
1736	215599015	Disease	p.Ile38Thr	300126.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	HOYERAAL-HREIDARSSON SYNDROME	OMIM	No Domain	N/A	NULL
1736	3913488	Disease	p.Ile38Thr	300126.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	HOYERAAL-HREIDARSSON SYNDROME	OMIM	No Domain	N/A	4503337,NP_001354
1736	215599015	Disease	p.Gln31Lys	300126.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED	OMIM	No Domain	N/A	NULL
1736	3913488	Disease	p.Gln31Lys	300126.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED	OMIM	No Domain	N/A	4503337,NP_001354
1736	215599015	Disease	p.Thr357Ala	300126.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED	OMIM	448	COG0130	NULL
1736	215599015	Disease	p.Thr357Ala	300126.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED	OMIM	82	smart00359	NULL
1736	215599015	Disease	p.Thr357Ala	300126.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED	OMIM	83	pfam01472	NULL
1736	3913488	Disease	p.Thr357Ala	300126.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED	OMIM	448	COG0130	4503337,NP_001354
1736	3913488	Disease	p.Thr357Ala	300126.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED	OMIM	82	smart00359	4503337,NP_001354
1736	3913488	Disease	p.Thr357Ala	300126.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300126	DYSKERATOSIS CONGENITA, X-LINKED	OMIM	83	pfam01472	4503337,NP_001354
1641	307078115	Disease	p.Asp62Asn	300121.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	10	cd01617	NULL
1641	307078115	Disease	p.Asp62Asn	300121.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	15	smart00537	NULL
1641	30181240	Disease	p.Asp62Asn	300121.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	10	cd01617	NULL
1641	30181240	Disease	p.Asp62Asn	300121.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	15	smart00537	NULL
1641	30181242	Disease	p.Asp62Asn	300121.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	10	cd01617	NULL
1641	30181242	Disease	p.Asp62Asn	300121.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	15	smart00537	NULL
1641	30181244	Disease	p.Asp62Asn	300121.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	10	cd01617	NULL
1641	30181244	Disease	p.Asp62Asn	300121.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	15	smart00537	NULL
1641	215274172	Disease	p.Asp62Asn	300121.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	No Domain	N/A	30181246,NP_000546
1641	307078115	Disease	p.Arg192Trp	300121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	13	cd01617	NULL
1641	307078115	Disease	p.Arg192Trp	300121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	18	smart00537	NULL
1641	30181240	Disease	p.Arg192Trp	300121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	13	cd01617	NULL
1641	30181240	Disease	p.Arg192Trp	300121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	18	smart00537	NULL
1641	30181242	Disease	p.Arg192Trp	300121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	13	cd01617	NULL
1641	30181242	Disease	p.Arg192Trp	300121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	18	smart00537	NULL
1641	30181244	Disease	p.Arg192Trp	300121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	13	cd01617	NULL
1641	30181244	Disease	p.Arg192Trp	300121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	18	smart00537	NULL
1641	215274172	Disease	p.Arg192Trp	300121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	61	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Arg192Trp	300121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	46	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Arg192Trp	300121.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	69	smart00537	30181246,NP_000546
1641	307078115	Disease	p.Tyr125His	300121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	75	cd01617	NULL
1641	307078115	Disease	p.Tyr125His	300121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	61	pfam03607	NULL
1641	307078115	Disease	p.Tyr125His	300121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	86	smart00537	NULL
1641	30181240	Disease	p.Tyr125His	300121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	75	cd01617	NULL
1641	30181240	Disease	p.Tyr125His	300121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	61	pfam03607	NULL
1641	30181240	Disease	p.Tyr125His	300121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	86	smart00537	NULL
1641	30181242	Disease	p.Tyr125His	300121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	75	cd01617	NULL
1641	30181242	Disease	p.Tyr125His	300121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	61	pfam03607	NULL
1641	30181242	Disease	p.Tyr125His	300121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	86	smart00537	NULL
1641	30181244	Disease	p.Tyr125His	300121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	75	cd01617	NULL
1641	30181244	Disease	p.Tyr125His	300121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	61	pfam03607	NULL
1641	30181244	Disease	p.Tyr125His	300121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	86	smart00537	NULL
1641	215274172	Disease	p.Tyr125His	300121.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	No Domain	N/A	30181246,NP_000546
1641	307078115	Disease	p.Arg59Leu	300121.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	7	cd01617	NULL
1641	307078115	Disease	p.Arg59Leu	300121.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	12	smart00537	NULL
1641	30181240	Disease	p.Arg59Leu	300121.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	7	cd01617	NULL
1641	30181240	Disease	p.Arg59Leu	300121.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	12	smart00537	NULL
1641	30181242	Disease	p.Arg59Leu	300121.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	7	cd01617	NULL
1641	30181242	Disease	p.Arg59Leu	300121.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	12	smart00537	NULL
1641	30181244	Disease	p.Arg59Leu	300121.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	7	cd01617	NULL
1641	30181244	Disease	p.Arg59Leu	300121.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	12	smart00537	NULL
1641	215274172	Disease	p.Arg59Leu	300121.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	No Domain	N/A	30181246,NP_000546
1641	307078115	Disease	p.Thr203Arg	300121.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	8	pfam03607	NULL
1641	307078115	Disease	p.Thr203Arg	300121.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	24	cd01617	NULL
1641	307078115	Disease	p.Thr203Arg	300121.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	29	smart00537	NULL
1641	30181240	Disease	p.Thr203Arg	300121.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	8	pfam03607	NULL
1641	30181240	Disease	p.Thr203Arg	300121.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	24	cd01617	NULL
1641	30181240	Disease	p.Thr203Arg	300121.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	29	smart00537	NULL
1641	30181242	Disease	p.Thr203Arg	300121.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	8	pfam03607	NULL
1641	30181242	Disease	p.Thr203Arg	300121.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	24	cd01617	NULL
1641	30181242	Disease	p.Thr203Arg	300121.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	29	smart00537	NULL
1641	30181244	Disease	p.Thr203Arg	300121.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	8	pfam03607	NULL
1641	30181244	Disease	p.Thr203Arg	300121.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	24	cd01617	NULL
1641	30181244	Disease	p.Thr203Arg	300121.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	29	smart00537	NULL
1641	215274172	Disease	p.Thr203Arg	300121.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	72	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Thr203Arg	300121.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	58	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Thr203Arg	300121.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	82	smart00537	30181246,NP_000546
1641	307078115	Disease	p.Ser47Arg	300121.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	No Domain	N/A	NULL
1641	30181240	Disease	p.Ser47Arg	300121.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	No Domain	N/A	NULL
1641	30181242	Disease	p.Ser47Arg	300121.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	No Domain	N/A	NULL
1641	30181244	Disease	p.Ser47Arg	300121.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	No Domain	N/A	NULL
1641	215274172	Disease	p.Ser47Arg	300121.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	No Domain	N/A	30181246,NP_000546
1641	307078115	Disease	p.Arg78His	300121.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	27	cd01617	NULL
1641	307078115	Disease	p.Arg78His	300121.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	10	pfam03607	NULL
1641	307078115	Disease	p.Arg78His	300121.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	32	smart00537	NULL
1641	30181240	Disease	p.Arg78His	300121.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	27	cd01617	NULL
1641	30181240	Disease	p.Arg78His	300121.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	10	pfam03607	NULL
1641	30181240	Disease	p.Arg78His	300121.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	32	smart00537	NULL
1641	30181242	Disease	p.Arg78His	300121.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	27	cd01617	NULL
1641	30181242	Disease	p.Arg78His	300121.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	10	pfam03607	NULL
1641	30181242	Disease	p.Arg78His	300121.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	32	smart00537	NULL
1641	30181244	Disease	p.Arg78His	300121.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	27	cd01617	NULL
1641	30181244	Disease	p.Arg78His	300121.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	10	pfam03607	NULL
1641	30181244	Disease	p.Arg78His	300121.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	32	smart00537	NULL
1641	215274172	Disease	p.Arg78His	300121.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	No Domain	N/A	30181246,NP_000546
1641	307078115	Disease	p.Arg89Gly	300121.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	38	cd01617	NULL
1641	307078115	Disease	p.Arg89Gly	300121.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	21	pfam03607	NULL
1641	307078115	Disease	p.Arg89Gly	300121.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	43	smart00537	NULL
1641	30181240	Disease	p.Arg89Gly	300121.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	38	cd01617	NULL
1641	30181240	Disease	p.Arg89Gly	300121.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	21	pfam03607	NULL
1641	30181240	Disease	p.Arg89Gly	300121.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	43	smart00537	NULL
1641	30181242	Disease	p.Arg89Gly	300121.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	38	cd01617	NULL
1641	30181242	Disease	p.Arg89Gly	300121.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	21	pfam03607	NULL
1641	30181242	Disease	p.Arg89Gly	300121.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	43	smart00537	NULL
1641	30181244	Disease	p.Arg89Gly	300121.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	38	cd01617	NULL
1641	30181244	Disease	p.Arg89Gly	300121.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	21	pfam03607	NULL
1641	30181244	Disease	p.Arg89Gly	300121.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	43	smart00537	NULL
1641	215274172	Disease	p.Arg89Gly	300121.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	No Domain	N/A	30181246,NP_000546
1641	307078115	Disease	p.Arg196His	300121.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	17	cd01617	NULL
1641	307078115	Disease	p.Arg196His	300121.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	22	smart00537	NULL
1641	30181240	Disease	p.Arg196His	300121.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	17	cd01617	NULL
1641	30181240	Disease	p.Arg196His	300121.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	22	smart00537	NULL
1641	30181242	Disease	p.Arg196His	300121.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	17	cd01617	NULL
1641	30181242	Disease	p.Arg196His	300121.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	22	smart00537	NULL
1641	30181244	Disease	p.Arg196His	300121.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	17	cd01617	NULL
1641	30181244	Disease	p.Arg196His	300121.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	22	smart00537	NULL
1641	215274172	Disease	p.Arg196His	300121.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	65	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Arg196His	300121.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	50	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Arg196His	300121.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	74	smart00537	30181246,NP_000546
1641	307078115	Disease	p.Ala71Ser	300121.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	19	cd01617	NULL
1641	307078115	Disease	p.Ala71Ser	300121.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	2	pfam03607	NULL
1641	307078115	Disease	p.Ala71Ser	300121.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	24	smart00537	NULL
1641	30181240	Disease	p.Ala71Ser	300121.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	19	cd01617	NULL
1641	30181240	Disease	p.Ala71Ser	300121.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	2	pfam03607	NULL
1641	30181240	Disease	p.Ala71Ser	300121.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	24	smart00537	NULL
1641	30181242	Disease	p.Ala71Ser	300121.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	19	cd01617	NULL
1641	30181242	Disease	p.Ala71Ser	300121.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	2	pfam03607	NULL
1641	30181242	Disease	p.Ala71Ser	300121.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	24	smart00537	NULL
1641	30181244	Disease	p.Ala71Ser	300121.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	19	cd01617	NULL
1641	30181244	Disease	p.Ala71Ser	300121.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	2	pfam03607	NULL
1641	30181244	Disease	p.Ala71Ser	300121.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	24	smart00537	NULL
1641	215274172	Disease	p.Ala71Ser	300121.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300121	LISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED	OMIM	No Domain	N/A	30181246,NP_000546
778	226693506	Disease	p.Gly369Asp	300110.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300110	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	OMIM	405	pfam00520	53832007,NP_005174
778	226693506	Disease	p.Ile745Thr	300110.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300110	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, SEVERE	OMIM	395	pfam00520	53832007,NP_005174
10743	50400978	Disease	p.Gly56Ser	300105.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300105	MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	OMIM	No Domain	N/A	40807477,NP_109590
10743	50400978	Disease	p.Val132Gly	300105.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300105	MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	OMIM	No Domain	N/A	40807477,NP_109590
2664	1707886	Disease	p.Leu92Pro	300104.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300104	MENTAL RETARDATION, X-LINKED 41	OMIM	123	COG5044	4503971,NP_001484
2664	1707886	Disease	p.Leu92Pro	300104.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300104	MENTAL RETARDATION, X-LINKED 41	OMIM	125	pfam00996	4503971,NP_001484
2664	1707886	Disease	p.Arg423Pro	300104.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300104	MENTAL RETARDATION, X-LINKED 48	OMIM	478	COG5044	4503971,NP_001484
2664	1707886	Disease	p.Arg423Pro	300104.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300104	MENTAL RETARDATION, X-LINKED 48	OMIM	478	pfam00996	4503971,NP_001484
7102	17380550	Disease	p.Pro172His	300096.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300096	MENTAL RETARDATION, X-LINKED 58	OMIM	69	cd03163	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	300096.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300096	MENTAL RETARDATION, X-LINKED 58	OMIM	71	cd03154	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	300096.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300096	MENTAL RETARDATION, X-LINKED 58	OMIM	98	cd03156	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	300096.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300096	MENTAL RETARDATION, X-LINKED 58	OMIM	345	pfam00335	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	300096.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300096	MENTAL RETARDATION, X-LINKED 58	OMIM	61	cd03164	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	300096.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300096	MENTAL RETARDATION, X-LINKED 58	OMIM	82	cd03160	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	300096.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300096	MENTAL RETARDATION, X-LINKED 58	OMIM	107	cd03127	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	300096.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300096	MENTAL RETARDATION, X-LINKED 58	OMIM	65	cd03166	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	300096.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300096	MENTAL RETARDATION, X-LINKED 58	OMIM	90	cd03155	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	300096.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300096	MENTAL RETARDATION, X-LINKED 58	OMIM	135	cd03162	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	300096.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300096	MENTAL RETARDATION, X-LINKED 58	OMIM	79	cd03161	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	300096.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300096	MENTAL RETARDATION, X-LINKED 58	OMIM	80	cd03158	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	300096.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300096	MENTAL RETARDATION, X-LINKED 58	OMIM	72	cd03165	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	300096.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300096	MENTAL RETARDATION, X-LINKED 58	OMIM	71	cd03167	21265104,NP_004606
6567	5730045	Disease	p.Leu512Pro	300095.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300095	ALLAN-HERNDON-DUDLEY SYNDROME	OMIM	347	COG2814	NULL
6567	5730045	Disease	p.Leu512Pro	300095.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300095	ALLAN-HERNDON-DUDLEY SYNDROME	OMIM	705	pfam07690	NULL
6567	5730045	Disease	p.Leu512Pro	300095.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300095	ALLAN-HERNDON-DUDLEY SYNDROME	OMIM	777	cd06174	NULL
6567	5730045	Disease	p.Leu512Pro	300095.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300095	ALLAN-HERNDON-DUDLEY SYNDROME	OMIM	464	COG2223	NULL
6567	5730045	Disease	p.Ala224Val	300095.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300095	ALLAN-HERNDON-DUDLEY SYNDROME	OMIM	17	COG2814	NULL
6567	5730045	Disease	p.Ala224Val	300095.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300095	ALLAN-HERNDON-DUDLEY SYNDROME	OMIM	137	pfam07690	NULL
6567	5730045	Disease	p.Ala224Val	300095.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300095	ALLAN-HERNDON-DUDLEY SYNDROME	OMIM	101	cd06174	NULL
6567	5730045	Disease	p.Ala224Val	300095.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300095	ALLAN-HERNDON-DUDLEY SYNDROME	OMIM	67	COG2223	NULL
6567	5730045	Disease	p.Leu397Pro	300095.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300095	ALLAN-HERNDON-DUDLEY SYNDROME	OMIM	222	COG2814	NULL
6567	5730045	Disease	p.Leu397Pro	300095.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300095	ALLAN-HERNDON-DUDLEY SYNDROME	OMIM	496	pfam07690	NULL
6567	5730045	Disease	p.Leu397Pro	300095.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300095	ALLAN-HERNDON-DUDLEY SYNDROME	OMIM	497	cd06174	NULL
6567	5730045	Disease	p.Leu397Pro	300095.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300095	ALLAN-HERNDON-DUDLEY SYNDROME	OMIM	320	COG2223	NULL
6567	5730045	Disease	p.Leu568Pro	300095.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300095	ALLAN-HERNDON-DUDLEY SYNDROME	OMIM	411	COG2814	NULL
6567	5730045	Disease	p.Leu568Pro	300095.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300095	ALLAN-HERNDON-DUDLEY SYNDROME	OMIM	909	cd06174	NULL
6567	5730045	Disease	p.Leu568Pro	300095.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300095	ALLAN-HERNDON-DUDLEY SYNDROME	OMIM	543	COG2223	NULL
6567	5730045	Disease	p.Leu434Trp	300095.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300095	ALLAN-HERNDON-DUDLEY SYNDROME	OMIM	262	COG2814	NULL
6567	5730045	Disease	p.Leu434Trp	300095.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300095	ALLAN-HERNDON-DUDLEY SYNDROME	OMIM	573	pfam07690	NULL
6567	5730045	Disease	p.Leu434Trp	300095.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300095	ALLAN-HERNDON-DUDLEY SYNDROME	OMIM	561	cd06174	NULL
6567	5730045	Disease	p.Leu434Trp	300095.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300095	ALLAN-HERNDON-DUDLEY SYNDROME	OMIM	362	COG2223	NULL
4694	3334271	Disease	p.Gly8Arg	300078.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300078	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	No Domain	N/A	4758770,NP_004532
4694	3334271	Disease	p.Arg37Ser	300078.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300078	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	No Domain	N/A	4758770,NP_004532
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd07832	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd05614	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd05122	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd08528	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd08529	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd08219	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd05616	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd05587	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd05615	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd05613	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd05583	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd07859	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd07841	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd08220	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd08215	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd08217	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd06626	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd06606	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd06631	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd07860	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd08223	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd06628	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd06627	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd08221	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd08225	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd08530	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd08222	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd05578	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd07839	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd08218	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd05632	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd05605	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd05631	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd05630	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd07861	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd07836	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd05045	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd06611	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	13	cd05114	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	13	cd05113	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd05100	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd06643	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	13	cd05033	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	13	cd05059	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd07870	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	13	cd05065	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	13	cd05112	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	13	cd05066	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	5	cd05611	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	5	cd05584	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	5	cd05582	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	8	cd07830	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	12	cd07840	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd06629	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	8	smart00219	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	8	cd07838	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	8	cd05118	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	12	pfam07714	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	8	pfam00069	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	8	smart00221	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	13	cd05079	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	8	cd07835	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	13	cd05080	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	8	cd05589	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	8	cd05075	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	8	cd05074	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	13	cd06616	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	8	cd05035	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	13	cd05081	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05594	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05042	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05058	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05619	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05592	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05604	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05602	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05571	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05620	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05595	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05085	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05060	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05603	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05591	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05590	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05588	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05618	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05617	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd00192	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05084	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05077	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05116	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05087	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05086	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd06632	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05044	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05078	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05593	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05040	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05041	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05575	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05570	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05047	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	31	cd06658	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	46	cd05055	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd07865	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	27	cd05098	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	2	cd05123	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	4	cd05115	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	2	cd05572	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	2	cd05585	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	2	cd05586	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	2	cd05579	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	2	cd05607	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	2	cd05577	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	2	cd05608	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	2	cd00180	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	34	cd06635	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd05099	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd06650	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd06649	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05056	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05036	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd05051	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	68	cd05102	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	52	cd05622	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	52	cd05596	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	7	cd08227	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	29	cd06657	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	28	cd06647	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	24	cd05101	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	52	cd05621	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	24	cd06607	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	24	cd06634	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	28	cd06656	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	28	cd06655	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	12	cd06612	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd06653	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05071	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd06625	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd06652	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05069	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	13	cd05610	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd06651	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd07858	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05039	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	27	cd06638	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd05108	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd05043	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd05032	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd06620	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd06608	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	13	cd06642	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	13	cd06641	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	13	cd06640	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05083	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05034	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd05110	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	29	cd06654	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	18	cd06645	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	18	cd06646	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	31	cd06639	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	30	cd06659	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd05093	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd05103	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd05088	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05070	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd07845	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd05049	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd05111	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	27	cd05057	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd05109	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd05094	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd06624	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05072	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd07844	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	25	cd06636	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd05626	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd07837	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd06617	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd05623	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd05599	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd05625	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05148	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05089	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd05609	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd08228	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd05581	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd08224	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd06610	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd08229	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	13	cd05574	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd07862	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd05580	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	48	COG0515	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd07871	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd07848	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd07847	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd05601	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd05597	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd05598	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd05573	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd05624	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd05629	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd05600	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd06619	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd05612	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd05627	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	12	cd06613	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd06621	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd06605	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd06623	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd05628	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd05046	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd06615	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd05038	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	3	cd05633	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	3	cd05606	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd05064	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd05053	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05062	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd05048	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05052	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd05090	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd05095	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd06637	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd05091	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd05050	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05061	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05067	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05082	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05068	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd05092	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd05097	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14	cd05063	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05073	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd06644	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	300075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	28	cd06648	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	180	cd07832	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	165	cd05614	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	199	cd05122	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	182	cd08528	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	165	cd08529	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	159	cd08219	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	160	cd05616	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	165	cd05587	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	160	cd05615	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	178	cd05613	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	166	cd05583	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	170	cd07859	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	186	cd07841	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	169	cd08220	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	227	cd08215	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	230	cd08217	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	162	cd06626	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	275	cd06606	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	169	cd06631	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	158	cd07860	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	161	cd08223	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	175	cd06628	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	202	cd06627	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	163	cd08221	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	161	cd08225	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	167	cd08530	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	165	cd08222	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	165	cd05578	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	157	cd07839	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	160	cd08218	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	160	cd05632	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	160	cd05605	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	160	cd05631	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	160	cd05630	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	160	cd07861	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	162	cd07836	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	186	cd05045	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	164	cd06611	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	157	cd05114	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	158	cd05113	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	195	cd05100	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	162	cd06643	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	200	cd05033	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	159	cd05059	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	162	cd07870	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	168	cd05065	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	157	cd05112	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	165	cd05066	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	350	cd05611	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	163	cd05584	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	157	cd05582	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	234	cd07830	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	219	cd07840	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	172	cd06629	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	527	smart00219	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	205	cd07838	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	170	cd05118	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	336	pfam07714	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	288	pfam00069	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	720	smart00221	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	167	cd05079	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	185	cd07835	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	165	cd05080	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	160	cd05589	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	188	cd05075	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	174	cd05074	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	168	cd06616	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	184	cd05035	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	166	cd05081	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	155	cd05594	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	168_G	cd05042	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	162	cd05058	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	155	cd05619	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	171	cd05592	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	155	cd05604	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	155	cd05602	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	155	cd05571	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	170	cd05620	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	154	cd05595	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	150	cd05085	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	160	cd05060	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	155	cd05603	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	155	cd05591	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	155	cd05590	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	155	cd05588	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	155	cd05618	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	155	cd05617	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	387	cd00192	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	153	cd05084	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	168_G	cd05077	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	153	cd05116	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	166	cd05087	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	161	cd05086	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	181	cd06632	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	178	cd05044	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	165	cd05078	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	154	cd05593	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	166	cd05040	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	155	cd05041	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	155	cd05575	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	157	cd05570	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	171	cd05047	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	177	cd06658	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	296	cd05055	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	186	cd07865	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	201	cd05098	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	728	cd05123	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	156	cd05115	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	230	cd05572	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	152	cd05585	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	155	cd05586	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	702	cd05579	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	153	cd05607	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	159	cd05577	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	156	cd05608	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	619	cd00180	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	180	cd06635	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	195	cd05099	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	161	cd06650	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	161	cd06649	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	194	cd05056	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	179	cd05036	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	217	cd05051	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	239	cd05102	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	202	cd05622	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	203_G	cd05596	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	168	cd08227	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	175	cd06657	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	174	cd06647	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	198	cd05101	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	202	cd05621	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	170	cd06607	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	170	cd06634	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	652	smart00220	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	174	cd06656	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	174	cd06655	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	175	cd06612	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	168	cd06653	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	161	cd05071	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	168	cd06625	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	192	cd06652	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	161	cd05069	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	187	cd05610	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	168	cd06651	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	171	cd07858	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	167	cd05039	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	183	cd06638	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	168	cd05108	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	201	cd05043	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	223	cd05032	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	163	cd06620	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	202	cd06608	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	160	cd06642	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	160	cd06641	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	160	cd06640	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	156	cd05083	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	169	cd05034	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	170	cd05110	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	175	cd06654	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	165	cd06645	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	165	cd06646	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	194	cd06639	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	176	cd06659	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	181	cd05093	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	242	cd05103	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	183	cd05088	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	161	cd05070	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	181	cd07845	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	189	cd05049	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	169	cd05111	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	221	cd05057	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	167	cd05109	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	188	cd05094	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	173	cd06624	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	162	cd05072	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	163	cd07844	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	180	cd06636	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	207	cd05626	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	179	cd07837	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	164	cd06617	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	162	cd05623	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	374	cd05599	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	207	cd05625	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	168_G	cd05148	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	178	cd05089	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	173	cd05609	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	165	cd08228	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	396	cd05581	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	166	cd08224	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	181	cd06610	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	165	cd08229	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	256	cd05574	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	169	cd07862	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	220	cd05580	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	796	COG0515	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	162	cd07871	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	188	cd07848	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	165	cd07847	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	163	cd05601	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	162	cd05597	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	220	cd05598	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	297	cd05573	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	162	cd05624	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	221	cd05629	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	227	cd05600	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	174_G	cd06619	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	157	cd05612	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	195	cd05627	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	162	cd06613	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	168	cd06621	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	176	cd06605	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	213	cd06623	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	195	cd05628	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	243	cd05046	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	159	cd06615	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	189	cd05038	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	154	cd05633	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	155	cd05606	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	164	cd05064	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	211	cd05053	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	180	cd05062	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	188	cd05048	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	163	cd05052	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	185	cd05090	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	202	cd05095	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	170	cd06637	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	185	cd05091	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	194	cd05050	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	181	cd05061	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	161	cd05067	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	161	cd05082	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	165	cd05068	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	183	cd05092	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	192	cd05097	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	167	cd05063	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	162	cd05073	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	169	cd06644	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	300075.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	175	cd06648	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd07832	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd05614	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	23	cd05122	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd08528	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd08529	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd08219	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd05616	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd05587	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd05615	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd05613	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd05583	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	14_G	cd07859	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd07841	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd08220	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd08215	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd08217	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd06626	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	23	cd06606	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd06631	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd07860	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd08223	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd06628	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd06627	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd08221	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd08225	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd08530	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd08222	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd05578	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd07839	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd08218	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd05632	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd05605	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd05631	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd05630	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd07861	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd07836	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd05045	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd06611	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	20	cd05114	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	20	cd05113	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	28	cd05100	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd06643	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	20	cd05033	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	20	cd05059	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd07870	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	20	cd05065	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	20	cd05112	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	20	cd05066	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	12	cd05611	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	12	cd05584	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	12	cd05582	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd07830	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	19	cd07840	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd06629	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	smart00219	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd07838	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05118	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	19	pfam07714	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	pfam00069	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	smart00221	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	20	cd05079	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd07835	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	20	cd05080	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05589	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05075	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05074	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	19_G	cd06616	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15	cd05035	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	20	cd05081	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05594	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05042	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05058	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05619	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05592	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05604	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05602	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05571	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05620	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05595	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05085	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05060	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05603	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05591	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05590	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05588	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05618	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05617	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd00192	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05084	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05077	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05116	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05087	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05086	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	16	cd06632	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05044	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05078	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05593	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05040	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05041	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05575	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05570	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05047	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	38	cd06658	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	53	cd05055	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	28	cd07865	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	34	cd05098	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd05123	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	11	cd05115	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd05572	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd05585	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd05586	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd05579	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd05607	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd05577	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	9	cd05608	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	12	cd00180	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	41	cd06635	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	28	cd05099	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd06650	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	19_G	cd06649	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd05056	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd05036	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	29	cd05051	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	74	cd05102	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	59	cd05622	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	59	cd05596	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	13	cd08227	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	36	cd06657	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	35	cd06647	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	31	cd05101	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	59	cd05621	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	31	cd06607	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	31	cd06634	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	5	smart00220	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	35	cd06656	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	35	cd06655	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	19	cd06612	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	18	cd06653	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd05071	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	18	cd06625	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	18	cd06652	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd05069	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	20	cd05610	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	18	cd06651	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd07858	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd05039	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	34	cd06638	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	23	cd05108	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	23	cd05043	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	24	cd05032	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd06620	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd06608	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	20	cd06642	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	20	cd06641	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	20	cd06640	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd05083	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd05034	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	23	cd05110	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	36	cd06654	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	25	cd06645	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	25	cd06646	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	38	cd06639	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	37	cd06659	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd05093	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	23	cd05103	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	23	cd05088	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd05070	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	23	cd07845	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd05049	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	23	cd05111	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	34	cd05057	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	23	cd05109	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd05094	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	24	cd06624	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd05072	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd07844	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	32	cd06636	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd05626	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd07837	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	15_G	cd06617	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd05623	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd05599	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd05625	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd05148	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	18	cd05089	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd05609	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	18	cd08228	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	24	cd05581	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	18	cd08224	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd06610	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	18	cd08229	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	20	cd05574	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd07862	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd05580	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	59	COG0515	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd07871	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd07848	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd07847	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd05601	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd05597	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd05598	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd05573	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd05624	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd05629	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd05600	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd06619	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd05612	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd05627	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	19	cd06613	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd06621	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd06605	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd06623	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd05628	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd05046	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	17	cd06615	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd05038	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd05633	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	10	cd05606	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd05064	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	28	cd05053	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd05062	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd05048	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd05052	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd05090	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd05095	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd06637	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd05091	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd05050	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd05061	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd05067	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd05082	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd05068	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd05092	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd05097	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	21	cd05063	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	22	cd05073	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	28	cd06644	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	300075.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	35	cd06648	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45	cd07832	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	48	cd05614	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	61	cd05122	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	57	cd08528	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	49	cd08529	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	44	cd08219	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45	cd05616	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45	cd05587	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45	cd05615	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	50	cd05613	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	48	cd05583	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45	cd07859	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	48	cd07841	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd08220	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	63	cd08215	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45	cd08217	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	48	cd06626	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	107	cd06606	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	46	cd06631	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45	cd07860	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45	cd08223	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	49	cd06628	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	50	cd06627	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45	cd08221	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45	cd08225	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45	cd08530	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	49	cd08222	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45	cd05578	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	43	cd07839	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45	cd08218	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45	cd05632	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45	cd05605	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45	cd05631	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45	cd05630	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	43	cd07861	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	42	cd07836	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	50	cd05045	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	51_G	cd06611	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	48	cd05114	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	48	cd05113	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	65	cd05100	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd06643	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	75	cd05033	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	48	cd05059	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd07870	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	51	cd05065	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45_G	cd05112	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	51	cd05066	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	41	cd05611	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	50	cd05584	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	44	cd05582	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	79	cd07830	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	57	cd07840	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	53	cd06629	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	174	smart00219	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	48	cd07838	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd05118	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	72	pfam07714	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	55	pfam00069	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	240	smart00221	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	52	cd05079	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd07835	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	52	cd05080	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	44	cd05589	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	41	cd05075	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd05074	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	55	cd06616	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	57	cd05035	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	54	cd05081	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	41	cd05594	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	44	cd05042	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	49	cd05058	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	40	cd05619	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	40	cd05592	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	41	cd05604	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	41	cd05602	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	41	cd05571	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	40	cd05620	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	41	cd05595	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	39	cd05085	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd05060	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	41	cd05603	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	40	cd05591	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	40	cd05590	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	40	cd05588	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	40	cd05618	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	40	cd05617	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	96	cd00192	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	39	cd05084	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	49	cd05077	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	42	cd05116	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	41	cd05087	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	43	cd05086	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	54	cd06632	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45	cd05044	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	40	cd05078	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	41	cd05593	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd05040	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	40	cd05041	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	40	cd05575	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	40	cd05570	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	41	cd05047	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	64	cd06658	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	86	cd05055	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	51	cd07865	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	71	cd05098	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	68	cd05123	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	41	cd05115	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	87	cd05572	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	38	cd05585	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	39	cd05586	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	39	cd05579	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	38	cd05607	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	38	cd05577	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	38	cd05608	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	134	cd00180	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	74	cd06635	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	65	cd05099	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd06650	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd06649	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	80	cd05056	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	55	cd05036	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	85	cd05051	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	104	cd05102	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	89	cd05622	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	89	cd05596	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45	cd08227	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	63	cd06657	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	62_G	cd06647	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	68	cd05101	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	89	cd05621	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	64	cd06607	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	64	cd06634	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	155	smart00220	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	62_G	cd06656	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	62	cd06655	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	55	cd06612	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	48	cd06653	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	50	cd05071	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	49	cd06625	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	50	cd06652	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	50	cd05069	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	53_G	cd05610	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	48	cd06651	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	51	cd07858	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	41	cd05039	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	61_G	cd06638	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	57	cd05108	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	70	cd05043	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	86	cd05032	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	52	cd06620	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	55	cd06608	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	48_G	cd06642	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	48_G	cd06641	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	48_G	cd06640	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	53	cd05083	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	50	cd05034	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	55	cd05110	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	63_G	cd06654	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	53_G	cd06645	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	52	cd06646	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	69	cd06639	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	64	cd06659	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	54_G	cd05093	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	57	cd05103	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	53	cd05088	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	49_G	cd05070	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	41	cd07845	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	57	cd05049	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	57	cd05111	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	103	cd05057	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	55	cd05109	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	54_G	cd05094	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	50	cd06624	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	50	cd05072	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	49	cd07844	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	59_G	cd06636	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd05626	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	46	cd07837	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45	cd06617	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd05623	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	46	cd05599	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd05625	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	51_G	cd05148	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	48	cd05089	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	46	cd05609	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	48	cd08228	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	93	cd05581	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	49	cd08224	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	41	cd06610	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	48	cd08229	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	62	cd05574	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd07862	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	94	cd05580	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	275	COG0515	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	49	cd07871	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	73	cd07848	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	46	cd07847	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd05601	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd05597	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	48	cd05598	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	71	cd05573	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd05624	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd05629	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	46	cd05600	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	68	cd06619	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd05612	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd05627	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	48	cd06613	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	51_G	cd06621	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	46	cd06605	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	53	cd06623	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	47	cd05628	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	114	cd05046	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	43	cd06615	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	54	cd05038	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	39	cd05633	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	39	cd05606	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	52	cd05064	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	57	cd05053	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	55	cd05062	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	57	cd05048	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	51	cd05052	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	53	cd05090	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	68	cd05095	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	48	cd06637	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	55_G	cd05091	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	55_G	cd05050	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	55	cd05061	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	49_G	cd05067	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	45_G	cd05082	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	50	cd05068	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	54_G	cd05092	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	65	cd05097	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	53	cd05063	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	49_G	cd05073	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	57_G	cd06644	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	300075.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	60	cd06648	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	307	cd05602	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	346	cd05586	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	316	cd05571	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	322	cd05618	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	320	cd05617	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	303	cd05585	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	322	cd05614	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	369	cd07853	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	317	cd05616	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	316	cd05615	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	344	cd07859	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	322	cd05587	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	328	cd05597	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	1377	COG0515	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	318	cd05589	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	344	cd07858	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	315	cd05584	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	316	cd05594	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	326	cd05592	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	314	cd05575	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	315	cd05595	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	312	cd05620	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	303	cd05619	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	314	cd05603	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	320	cd05588	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	313	cd05591	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	311	cd05590	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	300075.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	312	cd05582	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	326	cd05614	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	318	cd05616	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	326	cd05587	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	317	cd05615	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	321	cd07859	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	320	cd05584	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	313	cd05582	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	322	cd05589	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	317	cd05594	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	309	cd05619	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	330	cd05592	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	318	cd05604	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	318	cd05602	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	320	cd05571	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	324	cd05620	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	319	cd05595	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	315	cd05603	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	316	cd05591	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	315	cd05590	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	326	cd05588	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	323	cd05618	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	321	cd05617	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	318	cd05593	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	320	cd05575	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	327	cd05570	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	309	cd05585	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	325	cd05586	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	313	cd06650	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	299	cd06649	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	364	cd05622	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	366	cd05596	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	331	cd08227	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	364	cd05621	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	115	smart00133	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	107	pfam00433	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	420	cd05610	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	308	cd07858	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	375	cd05626	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	326	cd05623	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	574	cd05599	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	380	cd05625	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	1341	COG0515	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	339	cd05601	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	336	cd05597	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	391	cd05598	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	526	cd05573	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	326	cd05624	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	372	cd05629	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	421_G	cd05600	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	349	cd05627	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	352	cd05628	4759050,NP_004577
6197	1730070	Disease	p.Arg383Trp	300075.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	MENTAL RETARDATION, X-LINKED 19	OMIM	301	cd06615	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	136	cd07832	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	126	cd05614	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	155	cd05122	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	144	cd08528	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	127	cd08529	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	121	cd08219	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	122	cd05616	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	127	cd05587	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	122	cd05615	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	139	cd05613	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	126	cd05583	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	124	cd07859	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	138	cd07841	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	131	cd08220	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	164	cd08215	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	153	cd08217	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd06626	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	202	cd06606	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	125	cd06631	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	121	cd07860	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd08223	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	129	cd06628	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	128	cd06627	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd08221	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	122	cd08225	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	127	cd08530	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	128	cd08222	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	122	cd05578	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	120	cd07839	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	122	cd08218	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd05632	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd05605	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd05631	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd05630	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd07861	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	124	cd07836	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	148	cd05045	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	126	cd06611	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	121	cd05114	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	122	cd05113	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	155	cd05100	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	124	cd06643	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	159	cd05033	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd05059	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	124	cd07870	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	127	cd05065	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	121	cd05112	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	127	cd05066	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	118	cd05611	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	125	cd05584	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	119	cd05582	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	173	cd07830	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	170	cd07840	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	131	cd06629	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	418	smart00219	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	147	cd07838	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	130	cd05118	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	277	pfam07714	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	212	pfam00069	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	533	smart00221	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	130	cd05079	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	147	cd07835	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	128	cd05080	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	122	cd05589	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	148	cd05075	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	134	cd05074	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	136	cd06616	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	144	cd05035	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	129	cd05081	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	117	cd05594	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	124	cd05042	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	126	cd05058	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	117	cd05619	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	132	cd05592	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	117	cd05604	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	117	cd05602	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	117	cd05571	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	132	cd05620	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	116	cd05595	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	115	cd05085	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd05060	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	117	cd05603	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	117	cd05591	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	117	cd05590	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	117	cd05588	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	117	cd05618	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	117	cd05617	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	330	cd00192	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	115	cd05084	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	126	cd05077	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	116	cd05116	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	126	cd05087	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	121	cd05086	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	140	cd06632	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	131	cd05044	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd05078	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	116	cd05593	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	125	cd05040	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	117	cd05041	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	117	cd05575	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	119	cd05570	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	133	cd05047	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	139	cd06658	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	260	cd05055	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	145	cd07865	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	161	cd05098	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	637	cd05123	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	116	cd05115	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	189	cd05572	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	114	cd05585	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	117	cd05586	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	117	cd05579	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	116	cd05607	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	121	cd05577	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	118	cd05608	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	362	cd00180	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	146	cd06635	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	155	cd05099	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	125	cd06650	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	125	cd06649	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	157	cd05056	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	139	cd05036	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	182	cd05051	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	199	cd05102	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	163	cd05622	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	163	cd05596	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	122	cd08227	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	137	cd06657	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	136	cd06647	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	158	cd05101	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	163	cd05621	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	136	cd06607	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	136	cd06634	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	423	smart00220	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	136	cd06656	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	136	cd06655	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	136	cd06612	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	127	cd06653	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd05071	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	127	cd06625	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	151	cd06652	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd05069	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	126	cd05610	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	127	cd06651	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	130	cd07858	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	127	cd05039	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	145	cd06638	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	130	cd05108	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	163	cd05043	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	185	cd05032	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	127	cd06620	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	164	cd06608	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	122	cd06642	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	122	cd06641	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	122	cd06640	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	121	cd05083	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	124	cd05034	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	130	cd05110	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	137	cd06654	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	127	cd06645	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	127	cd06646	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	156	cd06639	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	138	cd06659	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	141	cd05093	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	201	cd05103	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	145	cd05088	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd05070	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	142	cd07845	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	148	cd05049	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	130	cd05111	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	183	cd05057	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	130	cd05109	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	144	cd05094	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	134	cd06624	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	124	cd05072	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	125	cd07844	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	142	cd06636	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	122	cd05626	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	139	cd07837	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	126	cd06617	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd05623	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	127	cd05599	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	122	cd05625	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	126	cd05148	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	140	cd05089	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	122	cd05609	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	127	cd08228	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	237	cd05581	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	128	cd08224	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	133	cd06610	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	127	cd08229	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	144	cd05574	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	131	cd07862	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	175	cd05580	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	553	COG0515	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	124	cd07871	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	150	cd07848	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	127	cd07847	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd05601	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd05597	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd05598	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	178	cd05573	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd05624	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	122	cd05629	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd05600	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	137	cd06619	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	122	cd05612	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	122	cd05627	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	124	cd06613	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	131	cd06621	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	139	cd06605	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	169	cd06623	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	122	cd05628	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	207	cd05046	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd06615	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	149	cd05038	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	118	cd05633	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	119	cd05606	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	128	cd05064	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	171	cd05053	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	140	cd05062	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	148	cd05048	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	125	cd05052	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	145	cd05090	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	162	cd05095	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	132	cd06637	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	145	cd05091	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	146	cd05050	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	141	cd05061	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd05067	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	123	cd05082	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	126	cd05068	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	143	cd05092	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	152	cd05097	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	129	cd05063	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	124	cd05073	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	131	cd06644	4759050,NP_004577
6197	1730070	Disease	p.Ile189Lys	300075.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	137	cd06648	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	225	cd07832	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	207	cd05614	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	245	cd05122	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	223	cd08528	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	207	cd08529	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	200	cd08219	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	201	cd05616	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	206	cd05587	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	201	cd05615	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	221	cd05613	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	209	cd05583	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	213	cd07859	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	281	cd07841	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	210	cd08220	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	270	cd08215	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	273	cd08217	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	247	cd06626	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	347	cd06606	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	210	cd06631	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	201	cd07860	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	202	cd08223	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	216	cd06628	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	245	cd06627	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	204	cd08221	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	202	cd08225	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	208	cd08530	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	206	cd08222	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	211	cd05578	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	201	cd07839	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	201	cd08218	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	201	cd05632	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	201	cd05605	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	201	cd05631	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	201	cd05630	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	203	cd07861	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	204	cd07836	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	230	cd05045	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	210	cd06611	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	202	cd05114	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	203	cd05113	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	238	cd05100	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	208	cd06643	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	246	cd05033	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	204	cd05059	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	204	cd07870	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	212	cd05065	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	202	cd05112	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	210	cd05066	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	392	cd05611	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	204	cd05584	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	198	cd05582	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	276	cd07830	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	300	cd07840	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	216	cd06629	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	610	smart00219	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	250	cd07838	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	235	cd05118	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	413	pfam07714	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	363	pfam00069	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	867	smart00221	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	207_G	cd05079	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	228	cd07835	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	210	cd05080	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	201	cd05589	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	230	cd05075	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	216	cd05074	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	218	cd06616	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	226	cd05035	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	207	cd05081	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	196	cd05594	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	214	cd05042	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	210	cd05058	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	196	cd05619	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	212	cd05592	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	196	cd05604	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	196	cd05602	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	196	cd05571	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	211	cd05620	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	195	cd05595	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	196	cd05085	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	206	cd05060	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	196	cd05603	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	196	cd05591	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	196	cd05590	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	196	cd05588	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	196	cd05618	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	196	cd05617	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	442	cd00192	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	197	cd05084	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	210	cd05077	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	199	cd05116	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	215	cd05087	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	210	cd05086	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	226	cd06632	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	220	cd05044	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	208	cd05078	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	195	cd05593	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	214	cd05040	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	199	cd05041	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	196	cd05575	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	198	cd05570	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	212	cd05047	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	218	cd06658	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	342	cd05055	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	278	cd07865	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	243	cd05098	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	812	cd05123	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	199	cd05115	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	271	cd05572	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	193	cd05585	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	197	cd05586	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	744	cd05579	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	195	cd05607	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	201	cd05577	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	197	cd05608	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	685	cd00180	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	224	cd06635	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	237	cd05099	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	202	cd06650	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	202	cd06649	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	240	cd05056	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	225	cd05036	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	291	cd05051	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	281	cd05102	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	247	cd05622	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	248	cd05596	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	210	cd08227	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	216	cd06657	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	215	cd06647	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	240	cd05101	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	247	cd05621	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	236	cd06607	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	216	cd06634	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	795	smart00220	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	215	cd06656	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	215	cd06655	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	220	cd06612	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	209	cd06653	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	204	cd05071	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	210	cd06625	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	233	cd06652	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	204	cd05069	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	227	cd05610	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	209	cd06651	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	214	cd07858	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	207	cd05039	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	229	cd06638	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	212	cd05108	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	248	cd05043	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	267	cd05032	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	206	cd06620	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	253	cd06608	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	201	cd06642	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	201	cd06641	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	201	cd06640	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	198	cd05083	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	215	cd05034	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	212	cd05110	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	216	cd06654	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	209	cd06645	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	209	cd06646	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	240	cd06639	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	217	cd06659	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	223	cd05093	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	283	cd05103	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	224	cd05088	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	204	cd05070	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	224	cd07845	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	235	cd05049	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	212	cd05111	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	266	cd05057	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	212	cd05109	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	234	cd05094	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	216	cd06624	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	205	cd05072	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	205	cd07844	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	226	cd06636	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	248	cd05626	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	220	cd07837	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	208	cd06617	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	208	cd05623	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	415	cd05599	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	248	cd05625	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	207	cd05148	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	219	cd05089	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	217	cd05609	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	206	cd08228	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	451	cd05581	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	207	cd08224	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	224	cd06610	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	206	cd08229	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	297	cd05574	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	210	cd07862	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	263	cd05580	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	937	COG0515	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	204	cd07871	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	230	cd07848	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	208	cd07847	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	212	cd05601	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	210	cd05597	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	261	cd05598	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	345	cd05573	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	208	cd05624	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	262	cd05629	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	269	cd05600	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	214	cd06619	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	198	cd05612	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	236	cd05627	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	209	cd06613	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	209	cd06621	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	224	cd06605	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	259	cd06623	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	236	cd05628	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	289	cd05046	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	200	cd06615	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	238_G	cd05038	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	196	cd05633	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	197	cd05606	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	210	cd05064	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	254	cd05053	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	222	cd05062	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	230	cd05048	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	206	cd05052	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	227	cd05090	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	245	cd05095	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	216	cd06637	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	227	cd05091	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	236	cd05050	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	223	cd05061	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	204	cd05067	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	200	cd05082	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	210	cd05068	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	225	cd05092	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	235	cd05097	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	212	cd05063	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	205	cd05073	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	215	cd06644	4759050,NP_004577
6197	1730070	Disease	p.Phe268Ser	300075.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300075	COFFIN-LOWRY SYNDROME	OMIM	216	cd06648	4759050,NP_004577
3052	1705694	Disease	p.Arg217Cys	300056.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300056	MICROPHTHALMIA, SYNDROMIC, 7	OMIM	603	pfam01265	169790849,NP_005324|169790851,NP_001116080|285002259,NP_001165462
3052	1705694	Disease	p.Arg217Cys	300056.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300056	MICROPHTHALMIA, SYNDROMIC, 7	OMIM	603	pfam01265	169790849,NP_005324|169790851,NP_001116080|285002259,NP_001165462
3052	1705694	Disease	p.Arg217Cys	300056.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300056	MICROPHTHALMIA, SYNDROMIC, 7	OMIM	603	pfam01265	169790849,NP_005324|169790851,NP_001116080|285002259,NP_001165462
8243	29336622	Disease	p.Glu493Ala	300040.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300040	CORNELIA DE LANGE SYNDROME 2	OMIM	549	cd03227	30581135,NP_006297
8243	29336622	Disease	p.Glu493Ala	300040.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300040	CORNELIA DE LANGE SYNDROME 2	OMIM	546	cd03275	30581135,NP_006297
8243	29336622	Disease	p.Glu493Ala	300040.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300040	CORNELIA DE LANGE SYNDROME 2	OMIM	525	cd03239	30581135,NP_006297
8243	29336622	Disease	p.Glu493Ala	300040.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300040	CORNELIA DE LANGE SYNDROME 2	OMIM	536	cd03278	30581135,NP_006297
8243	29336622	Disease	p.Glu493Ala	300040.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300040	CORNELIA DE LANGE SYNDROME 2	OMIM	543	pfam02463	30581135,NP_006297
8243	29336622	Disease	p.Glu493Ala	300040.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300040	CORNELIA DE LANGE SYNDROME 2	OMIM	579	COG1196	30581135,NP_006297
8243	29336622	Disease	p.Arg496His	300040.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300040	CORNELIA DE LANGE SYNDROME 2	OMIM	552	cd03227	30581135,NP_006297
8243	29336622	Disease	p.Arg496His	300040.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300040	CORNELIA DE LANGE SYNDROME 2	OMIM	549	cd03275	30581135,NP_006297
8243	29336622	Disease	p.Arg496His	300040.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300040	CORNELIA DE LANGE SYNDROME 2	OMIM	528	cd03239	30581135,NP_006297
8243	29336622	Disease	p.Arg496His	300040.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300040	CORNELIA DE LANGE SYNDROME 2	OMIM	539	cd03278	30581135,NP_006297
8243	29336622	Disease	p.Arg496His	300040.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300040	CORNELIA DE LANGE SYNDROME 2	OMIM	546	pfam02463	30581135,NP_006297
8243	29336622	Disease	p.Arg496His	300040.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300040	CORNELIA DE LANGE SYNDROME 2	OMIM	586	COG1196	30581135,NP_006297
5456	77416874	Disease	p.Leu317Trp	300039.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300039	DEAFNESS, X-LINKED 2; DFNX2	OMIM	58	smart00389	110624763,NP_000298
5456	77416874	Disease	p.Leu317Trp	300039.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300039	DEAFNESS, X-LINKED 2; DFNX2	OMIM	71	cd00086	110624763,NP_000298
5456	77416874	Disease	p.Leu317Trp	300039.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300039	DEAFNESS, X-LINKED 2; DFNX2	OMIM	49	pfam00046	110624763,NP_000298
5456	77416874	Disease	p.Lys334Glu	300039.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300039	DEAFNESS, X-LINKED 2; DFNX2	OMIM	88	cd00086	110624763,NP_000298
5456	77416874	Disease	p.Lys334Glu	300039.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300039	DEAFNESS, X-LINKED 2; DFNX2	OMIM	66	pfam00046	110624763,NP_000298
5456	77416874	Disease	p.Arg330Ser	300039.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300039	DEAFNESS, X-LINKED 2; DFNX2	OMIM	92	smart00389	110624763,NP_000298
5456	77416874	Disease	p.Arg330Ser	300039.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300039	DEAFNESS, X-LINKED 2; DFNX2	OMIM	84	cd00086	110624763,NP_000298
5456	77416874	Disease	p.Arg330Ser	300039.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300039	DEAFNESS, X-LINKED 2; DFNX2	OMIM	62	pfam00046	110624763,NP_000298
5456	77416874	Disease	p.Arg323Gly	300039.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300039	DEAFNESS, X-LINKED 2; DFNX2	OMIM	85	smart00389	110624763,NP_000298
5456	77416874	Disease	p.Arg323Gly	300039.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300039	DEAFNESS, X-LINKED 2; DFNX2	OMIM	77	cd00086	110624763,NP_000298
5456	77416874	Disease	p.Arg323Gly	300039.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300039	DEAFNESS, X-LINKED 2; DFNX2	OMIM	55	pfam00046	110624763,NP_000298
2719	1708022	Disease	p.Trp296Arg	300037.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300037	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	OMIM	322	pfam01153	4758462,NP_004475
2719	257471008	Disease	p.Trp296Arg	300037.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300037	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	OMIM	339	pfam01153	NULL
2719	257471006	Disease	p.Trp296Arg	300037.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300037	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	OMIM	322	pfam01153	NULL
2719	257471010	Disease	p.Trp296Arg	300037.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300037	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	OMIM	377	pfam01153	NULL
2719	1708022	Disease	p.Gly556Arg	300037.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300037	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	OMIM	643	pfam01153	4758462,NP_004475
2719	257471008	Disease	p.Gly556Arg	300037.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300037	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	OMIM	659	pfam01153	NULL
2719	257471006	Disease	p.Gly556Arg	300037.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300037	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	OMIM	604	pfam01153	NULL
2719	257471010	Disease	p.Gly556Arg	300037.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300037	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	OMIM	No Domain	N/A	NULL
6535	218563756	Disease	p.Gly381Arg	300036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	428	pfam00209	NULL
6535	218563756	Disease	p.Gly381Arg	300036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	365	COG0733	NULL
6535	218563758	Disease	p.Gly381Arg	300036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	534	pfam00209	NULL
6535	218563758	Disease	p.Gly381Arg	300036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	479	COG0733	NULL
6535	1352529	Disease	p.Gly381Arg	300036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	418	pfam00209	5032097,NP_005620
6535	1352529	Disease	p.Gly381Arg	300036.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	350	COG0733	5032097,NP_005620
6535	218563756	Disease	p.Gly87Arg	300036.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	36	pfam00209	NULL
6535	218563756	Disease	p.Gly87Arg	300036.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	45	COG0733	NULL
6535	218563758	Disease	p.Gly87Arg	300036.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	165	pfam00209	NULL
6535	218563758	Disease	p.Gly87Arg	300036.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	156	COG0733	NULL
6535	1352529	Disease	p.Gly87Arg	300036.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	36	pfam00209	5032097,NP_005620
6535	1352529	Disease	p.Gly87Arg	300036.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	45	COG0733	5032097,NP_005620
6535	218563756	Disease	p.Cys337Trp	300036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	310	pfam00209	NULL
6535	218563756	Disease	p.Cys337Trp	300036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	294	COG0733	NULL
6535	218563758	Disease	p.Cys337Trp	300036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	489	pfam00209	NULL
6535	218563758	Disease	p.Cys337Trp	300036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	424	COG0733	NULL
6535	1352529	Disease	p.Cys337Trp	300036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	310	pfam00209	5032097,NP_005620
6535	1352529	Disease	p.Cys337Trp	300036.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	294	COG0733	5032097,NP_005620
6535	218563756	Disease	p.Gly132Val	300036.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	82	pfam00209	NULL
6535	218563756	Disease	p.Gly132Val	300036.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	101	COG0733	NULL
6535	218563758	Disease	p.Gly132Val	300036.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	220	pfam00209	NULL
6535	218563758	Disease	p.Gly132Val	300036.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	193	COG0733	NULL
6535	1352529	Disease	p.Gly132Val	300036.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	82	pfam00209	5032097,NP_005620
6535	1352529	Disease	p.Gly132Val	300036.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	101	COG0733	5032097,NP_005620
6535	218563756	Disease	p.Cys491Trp	300036.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	539	pfam00209	NULL
6535	218563756	Disease	p.Cys491Trp	300036.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	486	COG0733	NULL
6535	218563758	Disease	p.Cys491Trp	300036.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	No Domain	N/A	NULL
6535	1352529	Disease	p.Cys491Trp	300036.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	529	pfam00209	5032097,NP_005620
6535	1352529	Disease	p.Cys491Trp	300036.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300036	CREATINE DEFICIENCY SYNDROME, X-LINKED	OMIM	474	COG0733	5032097,NP_005620
1947	1706668	Disease	p.Thr111Ile	300035.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300035	CRANIOFRONTONASAL SYNDROME	OMIM	119	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Pro54Leu	300035.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300035	CRANIOFRONTONASAL SYNDROME	OMIM	26	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Gly151Ser	300035.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300035	CRANIOFRONTONASAL SYNDROME	OMIM	159	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Gly151Val	300035.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300035	CRANIOFRONTONASAL SYNDROME	OMIM	159	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Met158Val	300035.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300035	CRANIOFRONTONASAL SYNDROME	OMIM	166	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Met158Ile	300035.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300035	CRANIOFRONTONASAL SYNDROME	OMIM	166	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Trp37Gly	300035.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300035	CRANIOFRONTONASAL SYNDROME	OMIM	9	pfam00812	4758248,NP_004420
186	1703214	Disease	p.Gly21Val	300034.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300034	MENTAL RETARDATION, X-LINKED 88	OMIM	No Domain	N/A	23238240,NP_000677
186	1703214	Disease	p.Arg324Gln	300034.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300034	MENTAL RETARDATION, X-LINKED 88	OMIM	No Domain	N/A	23238240,NP_000677
186	1703214	Disease	p.Ile337Val	300034.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300034	MENTAL RETARDATION, X-LINKED 88	OMIM	No Domain	N/A	23238240,NP_000677
79742	193804856	Disease	p.Ile337Val	300034.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300034	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Ile337Val	300034.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300034	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
186	1703214	Disease	p.Ile53Phe	300034.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300034	MENTAL RETARDATION, X-LINKED 88	OMIM	No Domain	N/A	23238240,NP_000677
546	20336205	Disease	p.His750Arg	300032.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	No Domain	N/A	NULL
546	311033500	Disease	p.His750Arg	300032.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	No Domain	N/A	20336209,NP_000480
546	20336205	Disease	p.Cys755Arg	300032.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	No Domain	N/A	NULL
546	311033500	Disease	p.Cys755Arg	300032.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	No Domain	N/A	20336209,NP_000480
546	20336205	Disease	p.Lys792Asn	300032.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	No Domain	N/A	NULL
546	311033500	Disease	p.Lys792Asn	300032.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	No Domain	N/A	20336209,NP_000480
546	20336205	Disease	p.Asn1002Ser	300032.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	No Domain	N/A	NULL
546	311033500	Disease	p.Asn1002Ser	300032.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	No Domain	N/A	20336209,NP_000480
546	20336205	Disease	p.Asp1177Val	300032.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	57	COG0553	NULL
546	311033500	Disease	p.Asp1177Val	300032.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	7	COG0553	20336209,NP_000480
546	20336205	Disease	p.Tyr1226His	300032.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	126	COG0553	NULL
546	311033500	Disease	p.Tyr1226His	300032.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	81	COG0553	20336209,NP_000480
546	20336205	Disease	p.Tyr1305Cys	300032.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	225	COG0553	NULL
546	311033500	Disease	p.Tyr1305Cys	300032.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	180	COG0553	20336209,NP_000480
546	20336205	Disease	p.Arg1272Gln	300032.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED	OMIM	185	COG0553	NULL
546	311033500	Disease	p.Arg1272Gln	300032.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED	OMIM	134	COG0553	20336209,NP_000480
546	20336205	Disease	p.Pro852Ser	300032.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED	OMIM	No Domain	N/A	NULL
546	311033500	Disease	p.Pro852Ser	300032.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED	OMIM	No Domain	N/A	20336209,NP_000480
546	20336205	Disease	p.Pro73Ala	300032.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	No Domain	N/A	NULL
546	311033500	Disease	p.Pro73Ala	300032.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	No Domain	N/A	20336209,NP_000480
546	20336205	Disease	p.Arg129Cys	300032.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	No Domain	N/A	NULL
546	311033500	Disease	p.Arg129Cys	300032.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	No Domain	N/A	20336209,NP_000480
546	20336205	Disease	p.Arg1742Lys	300032.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	895	COG0553	NULL
546	20336205	Disease	p.Arg1742Lys	300032.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	347	pfam00176	NULL
546	311033500	Disease	p.Arg1742Lys	300032.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	476	cd00046	20336209,NP_000480
546	311033500	Disease	p.Arg1742Lys	300032.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	1196	smart00487	20336209,NP_000480
546	311033500	Disease	p.Arg1742Lys	300032.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	830	COG0553	20336209,NP_000480
546	311033500	Disease	p.Arg1742Lys	300032.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	302	pfam00176	20336209,NP_000480
546	20336205	Disease	p.Arg246Cys	300032.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	No Domain	N/A	NULL
546	311033500	Disease	p.Arg246Cys	300032.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	No Domain	N/A	20336209,NP_000480
546	20336205	Disease	p.Thr1621Met	300032.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	678	smart00487	NULL
546	20336205	Disease	p.Thr1621Met	300032.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	116	cd00046	NULL
546	20336205	Disease	p.Thr1621Met	300032.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	681	COG0553	NULL
546	20336205	Disease	p.Thr1621Met	300032.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	161	pfam00176	NULL
546	311033500	Disease	p.Thr1621Met	300032.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	68	cd00046	20336209,NP_000480
546	311033500	Disease	p.Thr1621Met	300032.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	447	smart00487	20336209,NP_000480
546	311033500	Disease	p.Thr1621Met	300032.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	640	COG0553	20336209,NP_000480
546	311033500	Disease	p.Thr1621Met	300032.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED	OMIM	123	pfam00176	20336209,NP_000480
546	20336205	Disease	p.Leu409Ser	300032.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED	OMIM	No Domain	N/A	NULL
546	311033500	Disease	p.Leu409Ser	300032.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED	OMIM	No Domain	N/A	20336209,NP_000480
546	20336205	Disease	p.Ile2052Thr	300032.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED	OMIM	80	smart00490	NULL
546	20336205	Disease	p.Ile2052Thr	300032.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED	OMIM	137	cd00079	NULL
546	20336205	Disease	p.Ile2052Thr	300032.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED	OMIM	36	pfam00271	NULL
546	20336205	Disease	p.Ile2052Thr	300032.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED	OMIM	1394	COG0553	NULL
546	311033500	Disease	p.Ile2052Thr	300032.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED	OMIM	1372	COG0553	20336209,NP_000480
546	311033500	Disease	p.Ile2052Thr	300032.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED	OMIM	96	cd00079	20336209,NP_000480
546	20336205	Disease	p.Cys220Tyr	300032.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED	OMIM	No Domain	N/A	NULL
546	311033500	Disease	p.Cys220Tyr	300032.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED	OMIM	No Domain	N/A	20336209,NP_000480
546	20336205	Disease	p.Arg2271Gly	300032.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED	OMIM	No Domain	N/A	NULL
546	311033500	Disease	p.Arg2271Gly	300032.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300032	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED	OMIM	No Domain	N/A	20336209,NP_000480
2316	116063573	Disease	p.Leu656Phe	300017.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR	OMIM	211	smart00557	NULL
2316	116063573	Disease	p.Leu656Phe	300017.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR	OMIM	325	pfam00630	NULL
2316	116241365	Disease	p.Leu656Phe	300017.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR	OMIM	211	smart00557	160420317,NP_001104026
2316	116241365	Disease	p.Leu656Phe	300017.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR	OMIM	325	pfam00630	160420317,NP_001104026
2316	116063573	Disease	p.Glu82Val	300017.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR	OMIM	130	pfam00307	NULL
2316	116063573	Disease	p.Glu82Val	300017.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR	OMIM	51	cd00014	NULL
2316	116063573	Disease	p.Glu82Val	300017.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR	OMIM	48	COG5069	NULL
2316	116063573	Disease	p.Glu82Val	300017.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR	OMIM	88	smart00033	NULL
2316	116241365	Disease	p.Glu82Val	300017.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR	OMIM	130	pfam00307	160420317,NP_001104026
2316	116241365	Disease	p.Glu82Val	300017.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR	OMIM	51	cd00014	160420317,NP_001104026
2316	116241365	Disease	p.Glu82Val	300017.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR	OMIM	48	COG5069	160420317,NP_001104026
2316	116241365	Disease	p.Glu82Val	300017.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR	OMIM	88	smart00033	160420317,NP_001104026
2316	116063573	Disease	p.Pro207Leu	300017.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I	OMIM	92	smart00033	NULL
2316	116063573	Disease	p.Pro207Leu	300017.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I	OMIM	135	pfam00307	NULL
2316	116063573	Disease	p.Pro207Leu	300017.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I	OMIM	55	cd00014	NULL
2316	116063573	Disease	p.Pro207Leu	300017.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I	OMIM	196	COG5069	NULL
2316	116241365	Disease	p.Pro207Leu	300017.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I	OMIM	92	smart00033	160420317,NP_001104026
2316	116241365	Disease	p.Pro207Leu	300017.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I	OMIM	135	pfam00307	160420317,NP_001104026
2316	116241365	Disease	p.Pro207Leu	300017.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I	OMIM	55	cd00014	160420317,NP_001104026
2316	116241365	Disease	p.Pro207Leu	300017.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I	OMIM	196	COG5069	160420317,NP_001104026
2316	116063573	Disease	p.Glu254Lys	300017.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	227	smart00033	NULL
2316	116063573	Disease	p.Glu254Lys	300017.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	232	pfam00307	NULL
2316	116063573	Disease	p.Glu254Lys	300017.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	125	cd00014	NULL
2316	116063573	Disease	p.Glu254Lys	300017.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	247	COG5069	NULL
2316	116241365	Disease	p.Glu254Lys	300017.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	227	smart00033	160420317,NP_001104026
2316	116241365	Disease	p.Glu254Lys	300017.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	232	pfam00307	160420317,NP_001104026
2316	116241365	Disease	p.Glu254Lys	300017.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	125	cd00014	160420317,NP_001104026
2316	116241365	Disease	p.Glu254Lys	300017.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	247	COG5069	160420317,NP_001104026
2316	116063573	Disease	p.Asp1159Ala	300017.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	FRONTOMETAPHYSEAL DYSPLASIA	OMIM	3	pfam00630	NULL
2316	116241365	Disease	p.Asp1159Ala	300017.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	FRONTOMETAPHYSEAL DYSPLASIA	OMIM	3	pfam00630	160420317,NP_001104026
2316	116063573	Disease	p.Ala1188Thr	300017.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	MELNICK-NEEDLES SYNDROME	OMIM	70	smart00557	NULL
2316	116063573	Disease	p.Ala1188Thr	300017.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	MELNICK-NEEDLES SYNDROME	OMIM	61	pfam00630	NULL
2316	116241365	Disease	p.Ala1188Thr	300017.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	MELNICK-NEEDLES SYNDROME	OMIM	70	smart00557	160420317,NP_001104026
2316	116241365	Disease	p.Ala1188Thr	300017.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	MELNICK-NEEDLES SYNDROME	OMIM	61	pfam00630	160420317,NP_001104026
2316	116063573	Disease	p.Ser1199Leu	300017.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	MELNICK-NEEDLES SYNDROME	OMIM	125	smart00557	NULL
2316	116063573	Disease	p.Ser1199Leu	300017.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	MELNICK-NEEDLES SYNDROME	OMIM	121	pfam00630	NULL
2316	116241365	Disease	p.Ser1199Leu	300017.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	MELNICK-NEEDLES SYNDROME	OMIM	125	smart00557	160420317,NP_001104026
2316	116241365	Disease	p.Ser1199Leu	300017.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	MELNICK-NEEDLES SYNDROME	OMIM	121	pfam00630	160420317,NP_001104026
2316	116063573	Disease	p.Ser1186Leu	300017.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	FRONTOMETAPHYSEAL DYSPLASIA	OMIM	56	smart00557	NULL
2316	116063573	Disease	p.Ser1186Leu	300017.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	FRONTOMETAPHYSEAL DYSPLASIA	OMIM	54	pfam00630	NULL
2316	116241365	Disease	p.Ser1186Leu	300017.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	FRONTOMETAPHYSEAL DYSPLASIA	OMIM	56	smart00557	160420317,NP_001104026
2316	116241365	Disease	p.Ser1186Leu	300017.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	FRONTOMETAPHYSEAL DYSPLASIA	OMIM	54	pfam00630	160420317,NP_001104026
2316	116063573	Disease	p.Ala39Gly	300017.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT	OMIM	4	COG5069	NULL
2316	116241365	Disease	p.Ala39Gly	300017.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT	OMIM	4	COG5069	160420317,NP_001104026
2316	116063573	Disease	p.Asp203Tyr	300017.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I	OMIM	88	smart00033	NULL
2316	116063573	Disease	p.Asp203Tyr	300017.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I	OMIM	130	pfam00307	NULL
2316	116063573	Disease	p.Asp203Tyr	300017.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I	OMIM	51	cd00014	NULL
2316	116063573	Disease	p.Asp203Tyr	300017.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I	OMIM	192	COG5069	NULL
2316	116241365	Disease	p.Asp203Tyr	300017.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I	OMIM	88	smart00033	160420317,NP_001104026
2316	116241365	Disease	p.Asp203Tyr	300017.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I	OMIM	130	pfam00307	160420317,NP_001104026
2316	116241365	Disease	p.Asp203Tyr	300017.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I	OMIM	51	cd00014	160420317,NP_001104026
2316	116241365	Disease	p.Asp203Tyr	300017.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I	OMIM	192	COG5069	160420317,NP_001104026
2316	116063573	Disease	p.Ala128Val	300017.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT	OMIM	220	pfam00307	NULL
2316	116063573	Disease	p.Ala128Val	300017.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT	OMIM	115	cd00014	NULL
2316	116063573	Disease	p.Ala128Val	300017.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT	OMIM	107	COG5069	NULL
2316	116063573	Disease	p.Ala128Val	300017.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT	OMIM	207	smart00033	NULL
2316	116241365	Disease	p.Ala128Val	300017.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT	OMIM	220	pfam00307	160420317,NP_001104026
2316	116241365	Disease	p.Ala128Val	300017.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT	OMIM	115	cd00014	160420317,NP_001104026
2316	116241365	Disease	p.Ala128Val	300017.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT	OMIM	107	COG5069	160420317,NP_001104026
2316	116241365	Disease	p.Ala128Val	300017.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT	OMIM	207	smart00033	160420317,NP_001104026
2316	116063573	Disease	p.Gly1728Cys	300017.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SPECTRUM DISORDER	OMIM	329	pfam00630	NULL
2316	116063573	Disease	p.Gly1728Cys	300017.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SPECTRUM DISORDER	OMIM	214	smart00557	NULL
2316	116241365	Disease	p.Gly1728Cys	300017.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SPECTRUM DISORDER	OMIM	312	pfam00630	160420317,NP_001104026
2316	116241365	Disease	p.Gly1728Cys	300017.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SPECTRUM DISORDER	OMIM	189	smart00557	160420317,NP_001104026
2316	116063573	Disease	p.Ser1186Leu	300017.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	FRONTOMETAPHYSEAL DYSPLASIA	OMIM	56	smart00557	NULL
2316	116063573	Disease	p.Ser1186Leu	300017.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	FRONTOMETAPHYSEAL DYSPLASIA	OMIM	54	pfam00630	NULL
2316	116241365	Disease	p.Ser1186Leu	300017.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	FRONTOMETAPHYSEAL DYSPLASIA	OMIM	56	smart00557	160420317,NP_001104026
2316	116241365	Disease	p.Ser1186Leu	300017.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	FRONTOMETAPHYSEAL DYSPLASIA	OMIM	54	pfam00630	160420317,NP_001104026
2316	116063573	Disease	p.Arg196Trp	300017.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I||OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	81	smart00033	NULL
2316	116063573	Disease	p.Arg196Trp	300017.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I||OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	123	pfam00307	NULL
2316	116063573	Disease	p.Arg196Trp	300017.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I||OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	44	cd00014	NULL
2316	116063573	Disease	p.Arg196Trp	300017.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I||OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	185	COG5069	NULL
2316	116241365	Disease	p.Arg196Trp	300017.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I||OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	81	smart00033	160420317,NP_001104026
2316	116241365	Disease	p.Arg196Trp	300017.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I||OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	123	pfam00307	160420317,NP_001104026
2316	116241365	Disease	p.Arg196Trp	300017.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I||OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	44	cd00014	160420317,NP_001104026
2316	116241365	Disease	p.Arg196Trp	300017.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE I||OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	185	COG5069	160420317,NP_001104026
2316	116063573	Disease	p.Cys210Phe	300017.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	111	smart00033	NULL
2316	116063573	Disease	p.Cys210Phe	300017.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	150	pfam00307	NULL
2316	116063573	Disease	p.Cys210Phe	300017.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	58	cd00014	NULL
2316	116063573	Disease	p.Cys210Phe	300017.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	200	COG5069	NULL
2316	116241365	Disease	p.Cys210Phe	300017.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	111	smart00033	160420317,NP_001104026
2316	116241365	Disease	p.Cys210Phe	300017.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	150	pfam00307	160420317,NP_001104026
2316	116241365	Disease	p.Cys210Phe	300017.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	58	cd00014	160420317,NP_001104026
2316	116241365	Disease	p.Cys210Phe	300017.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	OTOPALATODIGITAL SYNDROME, TYPE II	OMIM	200	COG5069	160420317,NP_001104026
2316	116063573	Disease	p.Pro1291Leu	300017.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	FG SYNDROME 2	OMIM	84	smart00557	NULL
2316	116063573	Disease	p.Pro1291Leu	300017.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	FG SYNDROME 2	OMIM	77	pfam00630	NULL
2316	116241365	Disease	p.Pro1291Leu	300017.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	FG SYNDROME 2	OMIM	84	smart00557	160420317,NP_001104026
2316	116241365	Disease	p.Pro1291Leu	300017.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	FG SYNDROME 2	OMIM	77	pfam00630	160420317,NP_001104026
2316	116063573	Disease	p.Pro637Gln	300017.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	CARDIAC VALVULAR DYSPLASIA, X-LINKED	OMIM	168	smart00557	NULL
2316	116063573	Disease	p.Pro637Gln	300017.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	CARDIAC VALVULAR DYSPLASIA, X-LINKED	OMIM	657	COG5069	NULL
2316	116063573	Disease	p.Pro637Gln	300017.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	CARDIAC VALVULAR DYSPLASIA, X-LINKED	OMIM	289	pfam00630	NULL
2316	116241365	Disease	p.Pro637Gln	300017.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	CARDIAC VALVULAR DYSPLASIA, X-LINKED	OMIM	168	smart00557	160420317,NP_001104026
2316	116241365	Disease	p.Pro637Gln	300017.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	CARDIAC VALVULAR DYSPLASIA, X-LINKED	OMIM	657	COG5069	160420317,NP_001104026
2316	116241365	Disease	p.Pro637Gln	300017.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	CARDIAC VALVULAR DYSPLASIA, X-LINKED	OMIM	289	pfam00630	160420317,NP_001104026
2316	116063573	Disease	p.Gly288Arg	300017.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	CARDIAC VALVULAR DYSPLASIA, X-LINKED	OMIM	16	pfam00630	NULL
2316	116063573	Disease	p.Gly288Arg	300017.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	CARDIAC VALVULAR DYSPLASIA, X-LINKED	OMIM	20	smart00557	NULL
2316	116063573	Disease	p.Gly288Arg	300017.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	CARDIAC VALVULAR DYSPLASIA, X-LINKED	OMIM	303	COG5069	NULL
2316	116241365	Disease	p.Gly288Arg	300017.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	CARDIAC VALVULAR DYSPLASIA, X-LINKED	OMIM	16	pfam00630	160420317,NP_001104026
2316	116241365	Disease	p.Gly288Arg	300017.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	CARDIAC VALVULAR DYSPLASIA, X-LINKED	OMIM	20	smart00557	160420317,NP_001104026
2316	116241365	Disease	p.Gly288Arg	300017.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	CARDIAC VALVULAR DYSPLASIA, X-LINKED	OMIM	303	COG5069	160420317,NP_001104026
2316	116063573	Disease	p.Val711Asp	300017.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	CARDIAC VALVULAR DYSPLASIA, X-LINKED	OMIM	96	pfam00630	NULL
2316	116063573	Disease	p.Val711Asp	300017.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	CARDIAC VALVULAR DYSPLASIA, X-LINKED	OMIM	123	smart00557	NULL
2316	116241365	Disease	p.Val711Asp	300017.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	CARDIAC VALVULAR DYSPLASIA, X-LINKED	OMIM	96	pfam00630	160420317,NP_001104026
2316	116241365	Disease	p.Val711Asp	300017.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300017	CARDIAC VALVULAR DYSPLASIA, X-LINKED	OMIM	123	smart00557	160420317,NP_001104026
538	223590241	Disease	p.Ser637Leu	300011.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011	OCCIPITAL HORN SYNDROME	OMIM	188	COG2217	115529486,NP_000043
538	223590241	Disease	p.Gly1019Asp	300011.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011	MENKES DISEASE	OMIM	596	COG0474	115529486,NP_000043
538	223590241	Disease	p.Gly1019Asp	300011.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011	MENKES DISEASE	OMIM	654	COG2217	115529486,NP_000043
538	223590241	Disease	p.Gly1019Asp	300011.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011	MENKES DISEASE	OMIM	558	pfam00122	115529486,NP_000043
538	223590241	Disease	p.Gly1019Asp	300011.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011	MENKES DISEASE	OMIM	304	COG2216	115529486,NP_000043
538	223590241	Disease	p.Asn1304Ser	300011.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011	OCCIPITAL HORN SYNDROME	OMIM	463	pfam00702	115529486,NP_000043
538	223590241	Disease	p.Asn1304Ser	300011.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011	OCCIPITAL HORN SYNDROME	OMIM	1397	COG0474	115529486,NP_000043
538	223590241	Disease	p.Asn1304Ser	300011.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011	OCCIPITAL HORN SYNDROME	OMIM	109	COG4087	115529486,NP_000043
538	223590241	Disease	p.Asn1304Ser	300011.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011	OCCIPITAL HORN SYNDROME	OMIM	205	COG0560	115529486,NP_000043
538	223590241	Disease	p.Asn1304Ser	300011.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011	OCCIPITAL HORN SYNDROME	OMIM	989	COG2217	115529486,NP_000043
538	223590241	Disease	p.Asn1304Ser	300011.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011	OCCIPITAL HORN SYNDROME	OMIM	598	COG2216	115529486,NP_000043
538	223590241	Disease	p.Thr994Ile	300011.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011	SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3	OMIM	571	COG0474	115529486,NP_000043
538	223590241	Disease	p.Thr994Ile	300011.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011	SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3	OMIM	623	COG2217	115529486,NP_000043
538	223590241	Disease	p.Thr994Ile	300011.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011	SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3	OMIM	533	pfam00122	115529486,NP_000043
538	223590241	Disease	p.Thr994Ile	300011.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011	SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3	OMIM	280	COG2216	115529486,NP_000043
538	223590241	Disease	p.Pro1386Ser	300011.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011	SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3	OMIM	1611	COG0474	115529486,NP_000043
538	223590241	Disease	p.Pro1386Ser	300011.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011	SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3	OMIM	1087	COG2217	115529486,NP_000043
538	223590241	Disease	p.Pro1386Ser	300011.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300011	SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3	OMIM	762	COG2216	115529486,NP_000043
1184	189217923	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	54	cd03683	NULL
1184	189217923	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	32_G	cd01031	NULL
1184	189217923	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	100	COG0038	NULL
1184	189217923	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	19	cd01033	NULL
1184	189217923	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	73	cd03684	NULL
1184	189217923	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	66	cd01036	NULL
1184	189217923	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	64_G	cd00400	NULL
1184	189217923	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	83	cd03685	NULL
1184	189217921	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	54	cd03683	NULL
1184	189217921	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	32_G	cd01031	NULL
1184	189217921	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	100	COG0038	NULL
1184	189217921	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	19	cd01033	NULL
1184	189217921	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	73	cd03684	NULL
1184	189217921	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	66	cd01036	NULL
1184	189217921	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	64_G	cd00400	NULL
1184	189217921	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	83	cd03685	NULL
1184	1705908	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	83	pfam00654	4557473,NP_000075
1184	1705908	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	108	cd01033	4557473,NP_000075
1184	1705908	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	189	COG0038	4557473,NP_000075
1184	1705908	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	103	cd01031	4557473,NP_000075
1184	1705908	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	124	cd03683	4557473,NP_000075
1184	1705908	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	102	cd01034	4557473,NP_000075
1184	1705908	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	150	cd03685	4557473,NP_000075
1184	1705908	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	136	cd01036	4557473,NP_000075
1184	1705908	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	147	cd00400	4557473,NP_000075
1184	1705908	Disease	p.Leu200Arg	300008.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	219	cd03684	4557473,NP_000075
1184	189217923	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	402	cd03683	NULL
1184	189217923	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	363	cd01031	NULL
1184	189217923	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	464	COG0038	NULL
1184	189217923	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	330	cd01034	NULL
1184	189217923	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	384	cd01033	NULL
1184	189217923	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	502	cd03684	NULL
1184	189217923	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	516	cd01036	NULL
1184	189217923	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	481	cd00400	NULL
1184	189217923	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	675	pfam00654	NULL
1184	189217923	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	505	cd03685	NULL
1184	189217921	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	402	cd03683	NULL
1184	189217921	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	363	cd01031	NULL
1184	189217921	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	464	COG0038	NULL
1184	189217921	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	330	cd01034	NULL
1184	189217921	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	384	cd01033	NULL
1184	189217921	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	502	cd03684	NULL
1184	189217921	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	516	cd01036	NULL
1184	189217921	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	481	cd00400	NULL
1184	189217921	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	675	pfam00654	NULL
1184	189217921	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	505	cd03685	NULL
1184	1705908	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	771	pfam00654	4557473,NP_000075
1184	1705908	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	444	cd01033	4557473,NP_000075
1184	1705908	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	533	COG0038	4557473,NP_000075
1184	1705908	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	423	cd01031	4557473,NP_000075
1184	1705908	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	464	cd03683	4557473,NP_000075
1184	1705908	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	386	cd01034	4557473,NP_000075
1184	1705908	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	561	cd03685	4557473,NP_000075
1184	1705908	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	586	cd01036	4557473,NP_000075
1184	1705908	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	556	cd00400	4557473,NP_000075
1184	1705908	Disease	p.Ser520Pro	300008.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	589	cd03684	4557473,NP_000075
1184	189217923	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	388	cd03683	NULL
1184	189217923	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	349	cd01031	NULL
1184	189217923	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	449	COG0038	NULL
1184	189217923	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	316	cd01034	NULL
1184	189217923	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	368	cd01033	NULL
1184	189217923	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	488	cd03684	NULL
1184	189217923	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	502	cd01036	NULL
1184	189217923	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	464	cd00400	NULL
1184	189217923	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	661	pfam00654	NULL
1184	189217923	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	491	cd03685	NULL
1184	189217921	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	388	cd03683	NULL
1184	189217921	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	349	cd01031	NULL
1184	189217921	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	449	COG0038	NULL
1184	189217921	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	316	cd01034	NULL
1184	189217921	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	368	cd01033	NULL
1184	189217921	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	488	cd03684	NULL
1184	189217921	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	502	cd01036	NULL
1184	189217921	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	464	cd00400	NULL
1184	189217921	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	661	pfam00654	NULL
1184	189217921	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	491	cd03685	NULL
1184	1705908	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	757	pfam00654	4557473,NP_000075
1184	1705908	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	424	cd01033	4557473,NP_000075
1184	1705908	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	519	COG0038	4557473,NP_000075
1184	1705908	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	409	cd01031	4557473,NP_000075
1184	1705908	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	451	cd03683	4557473,NP_000075
1184	1705908	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	372	cd01034	4557473,NP_000075
1184	1705908	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	547	cd03685	4557473,NP_000075
1184	1705908	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	572	cd01036	4557473,NP_000075
1184	1705908	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	537	cd00400	4557473,NP_000075
1184	1705908	Disease	p.Gly506Glu	300008.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	575	cd03684	4557473,NP_000075
1184	189217923	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	98	cd03683	NULL
1184	189217923	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	78	cd01031	NULL
1184	189217923	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	159	COG0038	NULL
1184	189217923	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	70	cd01034	NULL
1184	189217923	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	81	cd01033	NULL
1184	189217923	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	190	cd03684	NULL
1184	189217923	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	110	cd01036	NULL
1184	189217923	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	118	cd00400	NULL
1184	189217923	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	41	pfam00654	NULL
1184	189217923	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	124	cd03685	NULL
1184	189217921	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	98	cd03683	NULL
1184	189217921	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	78	cd01031	NULL
1184	189217921	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	159	COG0038	NULL
1184	189217921	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	70	cd01034	NULL
1184	189217921	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	81	cd01033	NULL
1184	189217921	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	190	cd03684	NULL
1184	189217921	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	110	cd01036	NULL
1184	189217921	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	118	cd00400	NULL
1184	189217921	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	41	pfam00654	NULL
1184	189217921	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	124	cd03685	NULL
1184	1705908	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	157	pfam00654	4557473,NP_000075
1184	1705908	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	155	cd01033	4557473,NP_000075
1184	1705908	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	235	COG0038	4557473,NP_000075
1184	1705908	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	147	cd01031	4557473,NP_000075
1184	1705908	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	175	cd03683	4557473,NP_000075
1184	1705908	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	148	cd01034	4557473,NP_000075
1184	1705908	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	204	cd03685	4557473,NP_000075
1184	1705908	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	193	cd01036	4557473,NP_000075
1184	1705908	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	203	cd00400	4557473,NP_000075
1184	1705908	Disease	p.Ser244Leu	300008.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	OMIM	265	cd03684	4557473,NP_000075
1184	189217923	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	136	cd03683	NULL
1184	189217923	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	113	cd01031	NULL
1184	189217923	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	199	COG0038	NULL
1184	189217923	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	112	cd01034	NULL
1184	189217923	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	118	cd01033	NULL
1184	189217923	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	229	cd03684	NULL
1184	189217923	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	148	cd01036	NULL
1184	189217923	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	159	cd00400	NULL
1184	189217923	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	93	pfam00654	NULL
1184	189217923	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	160	cd03685	NULL
1184	189217921	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	136	cd03683	NULL
1184	189217921	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	113	cd01031	NULL
1184	189217921	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	199	COG0038	NULL
1184	189217921	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	112	cd01034	NULL
1184	189217921	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	118	cd01033	NULL
1184	189217921	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	229	cd03684	NULL
1184	189217921	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	148	cd01036	NULL
1184	189217921	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	159	cd00400	NULL
1184	189217921	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	93	pfam00654	NULL
1184	189217921	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	160	cd03685	NULL
1184	1705908	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	235	pfam00654	4557473,NP_000075
1184	1705908	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	196	cd01033	4557473,NP_000075
1184	1705908	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	284	COG0038	4557473,NP_000075
1184	1705908	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	196	cd01031	4557473,NP_000075
1184	1705908	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	211	cd03683	4557473,NP_000075
1184	1705908	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	188	cd01034	4557473,NP_000075
1184	1705908	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	240	cd03685	4557473,NP_000075
1184	1705908	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	229	cd01036	4557473,NP_000075
1184	1705908	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	261	cd00400	4557473,NP_000075
1184	1705908	Disease	p.Arg280Pro	300008.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM	314	cd03684	4557473,NP_000075
1184	189217923	Disease	p.Gly57Val	300008.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	No Domain	N/A	NULL
1184	189217921	Disease	p.Gly57Val	300008.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	No Domain	N/A	NULL
1184	1705908	Disease	p.Gly57Val	300008.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	38	COG0038	4557473,NP_000075
1184	1705908	Disease	p.Gly57Val	300008.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	NEPHROLITHIASIS, X-LINKED RECESSIVE	OMIM	33	cd03685	4557473,NP_000075
1184	189217923	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	114	cd03683	NULL
1184	189217923	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	93	cd01031	NULL
1184	189217923	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	178	COG0038	NULL
1184	189217923	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	92	cd01034	NULL
1184	189217923	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	98	cd01033	NULL
1184	189217923	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	209	cd03684	NULL
1184	189217923	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	126	cd01036	NULL
1184	189217923	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	137	cd00400	NULL
1184	189217923	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	71	pfam00654	NULL
1184	189217923	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	140	cd03685	NULL
1184	189217921	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	114	cd03683	NULL
1184	189217921	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	93	cd01031	NULL
1184	189217921	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	178	COG0038	NULL
1184	189217921	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	92	cd01034	NULL
1184	189217921	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	98	cd01033	NULL
1184	189217921	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	209	cd03684	NULL
1184	189217921	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	126	cd01036	NULL
1184	189217921	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	137	cd00400	NULL
1184	189217921	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	71	pfam00654	NULL
1184	189217921	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	140	cd03685	NULL
1184	1705908	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	187	pfam00654	4557473,NP_000075
1184	1705908	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	171	cd01033	4557473,NP_000075
1184	1705908	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	251	COG0038	4557473,NP_000075
1184	1705908	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	163	cd01031	4557473,NP_000075
1184	1705908	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	191	cd03683	4557473,NP_000075
1184	1705908	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	164	cd01034	4557473,NP_000075
1184	1705908	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	220	cd03685	4557473,NP_000075
1184	1705908	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	209	cd01036	4557473,NP_000075
1184	1705908	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	229	cd00400	4557473,NP_000075
1184	1705908	Disease	p.Gly260Val	300008.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300008	DENT DISEASE 1	OMIM	281	cd03684	4557473,NP_000075
4204	1708973	Disease	p.Arg133Cys	300005.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME, ZAPPELLA VARIANT||RETT SYNDROME	OMIM	44	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Arg133Cys	300005.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME, ZAPPELLA VARIANT||RETT SYNDROME	OMIM	49	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Arg133Cys	300005.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME, ZAPPELLA VARIANT||RETT SYNDROME	OMIM	49	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Arg133Cys	300005.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME, ZAPPELLA VARIANT||RETT SYNDROME	OMIM	75	pfam01429	4826830,NP_004983
4204	160707950	Disease	p.Arg133Cys	300005.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME, ZAPPELLA VARIANT||RETT SYNDROME	OMIM	32	smart00391	NULL
4204	160707950	Disease	p.Arg133Cys	300005.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME, ZAPPELLA VARIANT||RETT SYNDROME	OMIM	51	pfam01429	NULL
4204	160707950	Disease	p.Arg133Cys	300005.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME, ZAPPELLA VARIANT||RETT SYNDROME	OMIM	35	cd01396	NULL
4204	160707950	Disease	p.Arg133Cys	300005.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME, ZAPPELLA VARIANT||RETT SYNDROME	OMIM	35	cd00122	NULL
4204	1708973	Disease	p.Phe155Ser	300005.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	73	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Phe155Ser	300005.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	74	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Phe155Ser	300005.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	74	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Phe155Ser	300005.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	141	pfam01429	4826830,NP_004983
4204	160707950	Disease	p.Phe155Ser	300005.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	54	smart00391	NULL
4204	160707950	Disease	p.Phe155Ser	300005.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	85	pfam01429	NULL
4204	160707950	Disease	p.Phe155Ser	300005.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	59	cd01396	NULL
4204	160707950	Disease	p.Phe155Ser	300005.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	59	cd00122	NULL
4204	1708973	Disease	p.Thr158Met	300005.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME||ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATION	OMIM	76	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Thr158Met	300005.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME||ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATION	OMIM	77	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Thr158Met	300005.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME||ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATION	OMIM	144	pfam01429	4826830,NP_004983
4204	160707950	Disease	p.Thr158Met	300005.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME||ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATION	OMIM	57	smart00391	NULL
4204	160707950	Disease	p.Thr158Met	300005.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME||ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATION	OMIM	88	pfam01429	NULL
4204	160707950	Disease	p.Thr158Met	300005.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME||ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATION	OMIM	62	cd01396	NULL
4204	160707950	Disease	p.Thr158Met	300005.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME||ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATION	OMIM	62	cd00122	NULL
4204	1708973	Disease	p.Arg106Trp	300005.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	15	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Arg106Trp	300005.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	15	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Arg106Trp	300005.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	15	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Arg106Trp	300005.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	16	pfam01429	4826830,NP_004983
4204	160707950	Disease	p.Arg106Trp	300005.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	3	smart00391	NULL
4204	160707950	Disease	p.Arg106Trp	300005.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	4	pfam01429	NULL
4204	1708973	Disease	p.Ala140Val	300005.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13	OMIM	51	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Ala140Val	300005.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13	OMIM	56	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Ala140Val	300005.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13	OMIM	56	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Ala140Val	300005.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13	OMIM	82	pfam01429	4826830,NP_004983
4204	160707950	Disease	p.Ala140Val	300005.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13	OMIM	39	smart00391	NULL
4204	160707950	Disease	p.Ala140Val	300005.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13	OMIM	70	pfam01429	NULL
4204	160707950	Disease	p.Ala140Val	300005.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13	OMIM	42	cd01396	NULL
4204	160707950	Disease	p.Ala140Val	300005.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13	OMIM	42	cd00122	NULL
4204	1708973	Disease	p.Arg306Cys	300005.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	No Domain	N/A	4826830,NP_004983
4204	160707950	Disease	p.Arg306Cys	300005.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	No Domain	N/A	NULL
4204	1708973	Disease	p.Glu137Gly	300005.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13	OMIM	48	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Glu137Gly	300005.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13	OMIM	53	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Glu137Gly	300005.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13	OMIM	53	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Glu137Gly	300005.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13	OMIM	79	pfam01429	4826830,NP_004983
4204	160707950	Disease	p.Glu137Gly	300005.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13	OMIM	36	smart00391	NULL
4204	160707950	Disease	p.Glu137Gly	300005.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13	OMIM	55	pfam01429	NULL
4204	160707950	Disease	p.Glu137Gly	300005.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13	OMIM	39	cd01396	NULL
4204	160707950	Disease	p.Glu137Gly	300005.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13	OMIM	39	cd00122	NULL
4204	1708973	Disease	p.Gly428Ser	300005.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATION	OMIM	No Domain	N/A	4826830,NP_004983
4204	160707950	Disease	p.Gly428Ser	300005.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATION	OMIM	No Domain	N/A	NULL
4204	1708973	Disease	p.Leu100Val	300005.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	9	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Leu100Val	300005.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	9	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Leu100Val	300005.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	9	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Leu100Val	300005.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	10	pfam01429	4826830,NP_004983
4204	160707950	Disease	p.Leu100Val	300005.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	No Domain	N/A	NULL
4204	1708973	Disease	p.Pro225Leu	300005.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13	OMIM	No Domain	N/A	4826830,NP_004983
4204	160707950	Disease	p.Pro225Leu	300005.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13	OMIM	No Domain	N/A	NULL
4204	1708973	Disease	p.Pro322Ser	300005.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13	OMIM	No Domain	N/A	4826830,NP_004983
4204	160707950	Disease	p.Pro322Ser	300005.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13	OMIM	No Domain	N/A	NULL
4204	1708973	Disease	p.Pro152Ala	300005.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME, ZAPPELLA VARIANT	OMIM	63	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Pro152Ala	300005.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME, ZAPPELLA VARIANT	OMIM	71	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Pro152Ala	300005.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME, ZAPPELLA VARIANT	OMIM	71	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Pro152Ala	300005.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME, ZAPPELLA VARIANT	OMIM	138	pfam01429	4826830,NP_004983
4204	160707950	Disease	p.Pro152Ala	300005.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME, ZAPPELLA VARIANT	OMIM	51	smart00391	NULL
4204	160707950	Disease	p.Pro152Ala	300005.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME, ZAPPELLA VARIANT	OMIM	82	pfam01429	NULL
4204	160707950	Disease	p.Pro152Ala	300005.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME, ZAPPELLA VARIANT	OMIM	56	cd01396	NULL
4204	160707950	Disease	p.Pro152Ala	300005.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME, ZAPPELLA VARIANT	OMIM	56	cd00122	NULL
4204	1708973	Disease	p.Ala2Val	300005.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	No Domain	N/A	4826830,NP_004983
4204	160707950	Disease	p.Ala2Val	300005.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300005	RETT SYNDROME	OMIM	No Domain	N/A	NULL
4647	189083798	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	214	pfam00063	NULL
4647	189083798	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	263	COG5022	NULL
4647	189083798	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	183	cd01384	NULL
4647	189083798	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	153	cd01387	NULL
4647	189083798	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	211	cd01377	NULL
4647	189083798	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	153	cd01383	NULL
4647	189083798	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	158	cd01385	NULL
4647	189083798	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	316	smart00242	NULL
4647	189083798	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	228	cd01363	NULL
4647	189083798	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	148	cd01379	NULL
4647	189083798	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	155	cd01386	NULL
4647	189083798	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	235	cd00124	NULL
4647	189083798	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	147	cd01381	NULL
4647	189083798	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	189	cd01380	NULL
4647	189083798	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	293	cd01378	NULL
4647	189083798	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	171	cd01382	NULL
4647	189083802	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	214	pfam00063	NULL
4647	189083802	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	263	COG5022	NULL
4647	189083802	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	183	cd01384	NULL
4647	189083802	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	153	cd01387	NULL
4647	189083802	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	211	cd01377	NULL
4647	189083802	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	153	cd01383	NULL
4647	189083802	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	158	cd01385	NULL
4647	189083802	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	316	smart00242	NULL
4647	189083802	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	228	cd01363	NULL
4647	189083802	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	148	cd01379	NULL
4647	189083802	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	155	cd01386	NULL
4647	189083802	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	235	cd00124	NULL
4647	189083802	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	147	cd01381	NULL
4647	189083802	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	189	cd01380	NULL
4647	189083802	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	293	cd01378	NULL
4647	189083802	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	171	cd01382	NULL
4647	256355179	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	214	pfam00063	NULL
4647	256355179	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	211	cd01377	NULL
4647	256355179	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	153	cd01383	NULL
4647	256355179	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	158	cd01385	NULL
4647	256355179	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	316	smart00242	NULL
4647	256355179	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	263	COG5022	NULL
4647	256355179	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	148	cd01379	NULL
4647	256355179	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	155	cd01386	NULL
4647	256355179	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	235	cd00124	NULL
4647	256355179	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	147	cd01381	NULL
4647	256355179	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	189	cd01380	NULL
4647	256355179	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	293	cd01378	NULL
4647	256355179	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	228	cd01363	NULL
4647	256355179	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	171	cd01382	NULL
4647	256355179	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	183	cd01384	NULL
4647	256355179	Disease	p.Arg212His	276903.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	153	cd01387	NULL
4647	189083798	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	214	pfam00063	NULL
4647	189083798	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	263	COG5022	NULL
4647	189083798	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	183	cd01384	NULL
4647	189083798	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	153	cd01387	NULL
4647	189083798	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	211	cd01377	NULL
4647	189083798	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	153	cd01383	NULL
4647	189083798	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	158	cd01385	NULL
4647	189083798	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	316	smart00242	NULL
4647	189083798	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	228	cd01363	NULL
4647	189083798	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	148	cd01379	NULL
4647	189083798	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	155	cd01386	NULL
4647	189083798	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	235	cd00124	NULL
4647	189083798	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	147	cd01381	NULL
4647	189083798	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	189	cd01380	NULL
4647	189083798	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	293	cd01378	NULL
4647	189083798	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	171	cd01382	NULL
4647	189083802	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	214	pfam00063	NULL
4647	189083802	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	263	COG5022	NULL
4647	189083802	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	183	cd01384	NULL
4647	189083802	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	153	cd01387	NULL
4647	189083802	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	211	cd01377	NULL
4647	189083802	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	153	cd01383	NULL
4647	189083802	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	158	cd01385	NULL
4647	189083802	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	316	smart00242	NULL
4647	189083802	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	228	cd01363	NULL
4647	189083802	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	148	cd01379	NULL
4647	189083802	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	155	cd01386	NULL
4647	189083802	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	235	cd00124	NULL
4647	189083802	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	147	cd01381	NULL
4647	189083802	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	189	cd01380	NULL
4647	189083802	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	293	cd01378	NULL
4647	189083802	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	171	cd01382	NULL
4647	256355179	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	214	pfam00063	NULL
4647	256355179	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	211	cd01377	NULL
4647	256355179	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	153	cd01383	NULL
4647	256355179	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	158	cd01385	NULL
4647	256355179	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	316	smart00242	NULL
4647	256355179	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	263	COG5022	NULL
4647	256355179	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	148	cd01379	NULL
4647	256355179	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	155	cd01386	NULL
4647	256355179	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	235	cd00124	NULL
4647	256355179	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	147	cd01381	NULL
4647	256355179	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	189	cd01380	NULL
4647	256355179	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	293	cd01378	NULL
4647	256355179	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	228	cd01363	NULL
4647	256355179	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	171	cd01382	NULL
4647	256355179	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	183	cd01384	NULL
4647	256355179	Disease	p.Arg212Cys	276903.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	153	cd01387	NULL
4647	189083798	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	356	pfam00063	NULL
4647	189083798	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	355	COG5022	NULL
4647	189083798	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	274	cd01384	NULL
4647	189083798	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	242	cd01387	NULL
4647	189083798	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	309	cd01377	NULL
4647	189083798	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	244	cd01383	NULL
4647	189083798	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	249	cd01385	NULL
4647	189083798	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	487	smart00242	NULL
4647	189083798	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	318	cd01363	NULL
4647	189083798	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	245	cd01379	NULL
4647	189083798	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	248	cd01386	NULL
4647	189083798	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	387	cd00124	NULL
4647	189083798	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	239	cd01381	NULL
4647	189083798	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	286	cd01380	NULL
4647	189083798	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	389	cd01378	NULL
4647	189083798	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	287	cd01382	NULL
4647	189083802	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	356	pfam00063	NULL
4647	189083802	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	355	COG5022	NULL
4647	189083802	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	274	cd01384	NULL
4647	189083802	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	242	cd01387	NULL
4647	189083802	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	309	cd01377	NULL
4647	189083802	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	244	cd01383	NULL
4647	189083802	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	249	cd01385	NULL
4647	189083802	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	487	smart00242	NULL
4647	189083802	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	318	cd01363	NULL
4647	189083802	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	245	cd01379	NULL
4647	189083802	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	248	cd01386	NULL
4647	189083802	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	387	cd00124	NULL
4647	189083802	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	239	cd01381	NULL
4647	189083802	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	286	cd01380	NULL
4647	189083802	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	389	cd01378	NULL
4647	189083802	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	287	cd01382	NULL
4647	256355179	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	356	pfam00063	NULL
4647	256355179	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	309	cd01377	NULL
4647	256355179	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	244	cd01383	NULL
4647	256355179	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	249	cd01385	NULL
4647	256355179	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	487	smart00242	NULL
4647	256355179	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	355	COG5022	NULL
4647	256355179	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	245	cd01379	NULL
4647	256355179	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	248	cd01386	NULL
4647	256355179	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	387	cd00124	NULL
4647	256355179	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	239	cd01381	NULL
4647	256355179	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	286	cd01380	NULL
4647	256355179	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	389	cd01378	NULL
4647	256355179	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	318	cd01363	NULL
4647	256355179	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	287	cd01382	NULL
4647	256355179	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	274	cd01384	NULL
4647	256355179	Disease	p.Arg302His	276903.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	242	cd01387	NULL
4647	189083798	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	253	pfam00063	NULL
4647	189083798	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	295	COG5022	NULL
4647	189083798	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	215	cd01384	NULL
4647	189083798	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	184	cd01387	NULL
4647	189083798	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	244	cd01377	NULL
4647	189083798	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	185	cd01383	NULL
4647	189083798	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	190	cd01385	NULL
4647	189083798	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	355	smart00242	NULL
4647	189083798	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	260	cd01363	NULL
4647	189083798	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	180	cd01379	NULL
4647	189083798	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	187	cd01386	NULL
4647	189083798	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	283	cd00124	NULL
4647	189083798	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	179	cd01381	NULL
4647	189083798	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	225	cd01380	NULL
4647	189083798	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	325	cd01378	NULL
4647	189083798	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	203	cd01382	NULL
4647	189083802	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	253	pfam00063	NULL
4647	189083802	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	295	COG5022	NULL
4647	189083802	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	215	cd01384	NULL
4647	189083802	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	184	cd01387	NULL
4647	189083802	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	244	cd01377	NULL
4647	189083802	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	185	cd01383	NULL
4647	189083802	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	190	cd01385	NULL
4647	189083802	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	355	smart00242	NULL
4647	189083802	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	260	cd01363	NULL
4647	189083802	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	180	cd01379	NULL
4647	189083802	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	187	cd01386	NULL
4647	189083802	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	283	cd00124	NULL
4647	189083802	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	179	cd01381	NULL
4647	189083802	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	225	cd01380	NULL
4647	189083802	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	325	cd01378	NULL
4647	189083802	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	203	cd01382	NULL
4647	256355179	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	253	pfam00063	NULL
4647	256355179	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	244	cd01377	NULL
4647	256355179	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	185	cd01383	NULL
4647	256355179	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	190	cd01385	NULL
4647	256355179	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	355	smart00242	NULL
4647	256355179	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	295	COG5022	NULL
4647	256355179	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	180	cd01379	NULL
4647	256355179	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	187	cd01386	NULL
4647	256355179	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	283	cd00124	NULL
4647	256355179	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	179	cd01381	NULL
4647	256355179	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	225	cd01380	NULL
4647	256355179	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	325	cd01378	NULL
4647	256355179	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	260	cd01363	NULL
4647	256355179	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	203	cd01382	NULL
4647	256355179	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	215	cd01384	NULL
4647	256355179	Disease	p.Arg244Pro	276903.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2	OMIM	184	cd01387	NULL
4647	189083798	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	801	pfam00063	NULL
4647	189083798	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	672	COG5022	NULL
4647	189083798	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	605	cd01384	NULL
4647	189083798	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	535	cd01387	NULL
4647	189083798	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	665	cd01377	NULL
4647	189083798	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	545	cd01383	NULL
4647	189083798	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	692	cd01385	NULL
4647	189083798	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	1085	smart00242	NULL
4647	189083798	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	609	cd01363	NULL
4647	189083798	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	593	cd01379	NULL
4647	189083798	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	636	cd01386	NULL
4647	189083798	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	955	cd00124	NULL
4647	189083798	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	541	cd01381	NULL
4647	189083798	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	628	cd01380	NULL
4647	189083798	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	742	cd01378	NULL
4647	189083798	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	640	cd01382	NULL
4647	189083802	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	801	pfam00063	NULL
4647	189083802	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	672	COG5022	NULL
4647	189083802	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	605	cd01384	NULL
4647	189083802	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	535	cd01387	NULL
4647	189083802	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	665	cd01377	NULL
4647	189083802	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	545	cd01383	NULL
4647	189083802	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	692	cd01385	NULL
4647	189083802	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	1085	smart00242	NULL
4647	189083802	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	609	cd01363	NULL
4647	189083802	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	593	cd01379	NULL
4647	189083802	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	636	cd01386	NULL
4647	189083802	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	955	cd00124	NULL
4647	189083802	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	541	cd01381	NULL
4647	189083802	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	628	cd01380	NULL
4647	189083802	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	742	cd01378	NULL
4647	189083802	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	640	cd01382	NULL
4647	256355179	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	801	pfam00063	NULL
4647	256355179	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	665	cd01377	NULL
4647	256355179	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	545	cd01383	NULL
4647	256355179	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	692	cd01385	NULL
4647	256355179	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	1085	smart00242	NULL
4647	256355179	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	672	COG5022	NULL
4647	256355179	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	593	cd01379	NULL
4647	256355179	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	636	cd01386	NULL
4647	256355179	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	955	cd00124	NULL
4647	256355179	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	541	cd01381	NULL
4647	256355179	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	628	cd01380	NULL
4647	256355179	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	742	cd01378	NULL
4647	256355179	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	609	cd01363	NULL
4647	256355179	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	640	cd01382	NULL
4647	256355179	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	605	cd01384	NULL
4647	256355179	Disease	p.Met599Ile	276903.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB	OMIM	535	cd01387	NULL
4647	189083798	Disease	p.Leu1087Pro	276903.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	1310	COG5022	NULL
4647	189083798	Disease	p.Leu1087Pro	276903.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	197	smart00139	NULL
4647	189083802	Disease	p.Leu1087Pro	276903.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	1310	COG5022	NULL
4647	189083802	Disease	p.Leu1087Pro	276903.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	197	smart00139	NULL
4647	256355179	Disease	p.Leu1087Pro	276903.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	1546	COG5022	NULL
4647	256355179	Disease	p.Leu1087Pro	276903.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	USHER SYNDROME, TYPE IB	OMIM	197	smart00139	NULL
4647	189083798	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	572	pfam00063	NULL
4647	189083798	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	513	COG5022	NULL
4647	189083798	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	459	cd01384	NULL
4647	189083798	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	395	cd01387	NULL
4647	189083798	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	480	cd01377	NULL
4647	189083798	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	394	cd01383	NULL
4647	189083798	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	409	cd01385	NULL
4647	189083798	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	775	smart00242	NULL
4647	189083798	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	467	cd01363	NULL
4647	189083798	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	443	cd01379	NULL
4647	189083798	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	422	cd01386	NULL
4647	189083798	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	621	cd00124	NULL
4647	189083798	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	396	cd01381	NULL
4647	189083798	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	452	cd01380	NULL
4647	189083798	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	557	cd01378	NULL
4647	189083798	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	485	cd01382	NULL
4647	189083802	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	572	pfam00063	NULL
4647	189083802	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	513	COG5022	NULL
4647	189083802	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	459	cd01384	NULL
4647	189083802	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	395	cd01387	NULL
4647	189083802	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	480	cd01377	NULL
4647	189083802	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	394	cd01383	NULL
4647	189083802	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	409	cd01385	NULL
4647	189083802	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	775	smart00242	NULL
4647	189083802	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	467	cd01363	NULL
4647	189083802	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	443	cd01379	NULL
4647	189083802	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	422	cd01386	NULL
4647	189083802	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	621	cd00124	NULL
4647	189083802	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	396	cd01381	NULL
4647	189083802	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	452	cd01380	NULL
4647	189083802	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	557	cd01378	NULL
4647	189083802	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	485	cd01382	NULL
4647	256355179	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	572	pfam00063	NULL
4647	256355179	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	480	cd01377	NULL
4647	256355179	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	394	cd01383	NULL
4647	256355179	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	409	cd01385	NULL
4647	256355179	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	775	smart00242	NULL
4647	256355179	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	513	COG5022	NULL
4647	256355179	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	443	cd01379	NULL
4647	256355179	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	422	cd01386	NULL
4647	256355179	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	621	cd00124	NULL
4647	256355179	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	396	cd01381	NULL
4647	256355179	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	452	cd01380	NULL
4647	256355179	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	557	cd01378	NULL
4647	256355179	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	467	cd01363	NULL
4647	256355179	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	485	cd01382	NULL
4647	256355179	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	459	cd01384	NULL
4647	256355179	Disease	p.Asn458Ile	276903.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903	DEAFNESS, AUTOSOMAL DOMINANT 11	OMIM	395	cd01387	NULL
2175	66879666	Disease	p.Asn16Ile	276700.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276700	TYROSINEMIA, TYPE I	OMIM	16	pfam03511	NULL
2175	147744560	Disease	p.Asn16Ile	276700.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276700	TYROSINEMIA, TYPE I	OMIM	16	pfam03511	66880553,NP_000126
2175	66879666	Disease	p.Ala134Asp	276700.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276700	TYROSINEMIA, TYPE I	OMIM	No Domain	N/A	NULL
2175	147744560	Disease	p.Ala134Asp	276700.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276700	TYROSINEMIA, TYPE I	OMIM	No Domain	N/A	66880553,NP_000126
2175	66879666	Disease	p.Arg341Trp	276700.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276700	FUMARYLACETOACETASE PSEUDODEFICIENCY	OMIM	No Domain	N/A	NULL
2175	147744560	Disease	p.Arg341Trp	276700.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276700	FUMARYLACETOACETASE PSEUDODEFICIENCY	OMIM	No Domain	N/A	66880553,NP_000126
2175	66879666	Disease	p.Glu337Ser	276700.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276700	TYROSINEMIA, TYPE I	OMIM	No Domain	N/A	NULL
2175	147744560	Disease	p.Glu337Ser	276700.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276700	TYROSINEMIA, TYPE I	OMIM	No Domain	N/A	66880553,NP_000126
2175	66879666	Disease	p.Arg381Gly	276700.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276700	TYROSINEMIA, TYPE I	OMIM	No Domain	N/A	NULL
2175	147744560	Disease	p.Arg381Gly	276700.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276700	TYROSINEMIA, TYPE I	OMIM	No Domain	N/A	66880553,NP_000126
2175	66879666	Disease	p.Gln279Arg	276700.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276700	TYROSINEMIA, TYPE I	OMIM	No Domain	N/A	NULL
2175	147744560	Disease	p.Gln279Arg	276700.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276700	TYROSINEMIA, TYPE I	OMIM	No Domain	N/A	66880553,NP_000126
136541	74759717	Disease	p.Asn29Ile	276000.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276000	PANCREATITIS, HEREDITARY	OMIM	20	smart00020	48255915,NP_001001317
136541	74759717	Disease	p.Asn29Ile	276000.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276000	PANCREATITIS, HEREDITARY	OMIM	9	pfam00089	48255915,NP_001001317
136541	74759717	Disease	p.Asn29Ile	276000.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276000	PANCREATITIS, HEREDITARY	OMIM	17	cd00190	48255915,NP_001001317
136541	74759717	Disease	p.Lys23Arg	276000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276000	PANCREATITIS, HEREDITARY	OMIM	3	smart00020	48255915,NP_001001317
136541	74759717	Disease	p.Lys23Arg	276000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276000	PANCREATITIS, HEREDITARY	OMIM	3	pfam00089	48255915,NP_001001317
79742	193804856	Disease	p.Lys23Arg	276000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276000	MOVED TO 276000.0002	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Lys23Arg	276000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276000	MOVED TO 276000.0002	OMIM	No Domain	N/A	193804854,NP_789789
136541	74759717	Disease	p.Glu79Lys	276000.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276000	PANCREATITIS, HEREDITARY	OMIM	171	smart00020	48255915,NP_001001317
136541	74759717	Disease	p.Glu79Lys	276000.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276000	PANCREATITIS, HEREDITARY	OMIM	103	pfam00089	48255915,NP_001001317
136541	74759717	Disease	p.Glu79Lys	276000.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276000	PANCREATITIS, HEREDITARY	OMIM	115	cd00190	48255915,NP_001001317
136541	74759717	Disease	p.Asn54Ser	276000.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276000	PANCREATITIS, HEREDITARY	OMIM	64	smart00020	48255915,NP_001001317
136541	74759717	Disease	p.Asn54Ser	276000.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276000	PANCREATITIS, HEREDITARY	OMIM	55	pfam00089	48255915,NP_001001317
136541	74759717	Disease	p.Asn54Ser	276000.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276000	PANCREATITIS, HEREDITARY	OMIM	58	cd00190	48255915,NP_001001317
136541	74759717	Disease	p.Arg122Cys	276000.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276000	PANCREATITIS, HEREDITARY	OMIM	296	smart00020	48255915,NP_001001317
136541	74759717	Disease	p.Arg122Cys	276000.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276000	PANCREATITIS, HEREDITARY	OMIM	172	pfam00089	48255915,NP_001001317
136541	74759717	Disease	p.Arg122Cys	276000.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276000	PANCREATITIS, HEREDITARY	OMIM	183	cd00190	48255915,NP_001001317
136541	74759717	Disease	p.Ala121Thr	276000.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276000	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	295	smart00020	48255915,NP_001001317
136541	74759717	Disease	p.Ala121Thr	276000.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276000	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	171	pfam00089	48255915,NP_001001317
136541	74759717	Disease	p.Ala121Thr	276000.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276000	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	182	cd00190	48255915,NP_001001317
6916	195972898	Disease	p.Leu488Pro	274180.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	520	COG2124	NULL
6916	195972898	Disease	p.Leu488Pro	274180.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	513	pfam00067	NULL
6916	261278370	Disease	p.Leu488Pro	274180.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	449	COG2124	NULL
6916	261278370	Disease	p.Leu488Pro	274180.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	450	pfam00067	NULL
6916	195972900	Disease	p.Leu488Pro	274180.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	No Domain	N/A	NULL
6916	261278372	Disease	p.Leu488Pro	274180.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	No Domain	N/A	NULL
6916	195972896	Disease	p.Leu488Pro	274180.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	520	COG2124	NULL
6916	195972896	Disease	p.Leu488Pro	274180.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	513	pfam00067	NULL
6916	195972898	Disease	p.Leu83Pro	274180.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	51	COG2124	NULL
6916	195972898	Disease	p.Leu83Pro	274180.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	48	pfam00067	NULL
6916	261278370	Disease	p.Leu83Pro	274180.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	51	COG2124	NULL
6916	261278370	Disease	p.Leu83Pro	274180.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	48	pfam00067	NULL
6916	195972900	Disease	p.Leu83Pro	274180.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	51	COG2124	NULL
6916	195972900	Disease	p.Leu83Pro	274180.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	48	pfam00067	NULL
6916	261278372	Disease	p.Leu83Pro	274180.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	155	COG2124	NULL
6916	261278372	Disease	p.Leu83Pro	274180.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	126	pfam00067	NULL
6916	195972896	Disease	p.Leu83Pro	274180.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	51	COG2124	NULL
6916	195972896	Disease	p.Leu83Pro	274180.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	48	pfam00067	NULL
6916	195972898	Disease	p.Gly482Trp	274180.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	514	COG2124	NULL
6916	195972898	Disease	p.Gly482Trp	274180.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	507	pfam00067	NULL
6916	261278370	Disease	p.Gly482Trp	274180.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	443	COG2124	NULL
6916	261278370	Disease	p.Gly482Trp	274180.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	444	pfam00067	NULL
6916	195972900	Disease	p.Gly482Trp	274180.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	No Domain	N/A	NULL
6916	261278372	Disease	p.Gly482Trp	274180.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	No Domain	N/A	NULL
6916	195972896	Disease	p.Gly482Trp	274180.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	514	COG2124	NULL
6916	195972896	Disease	p.Gly482Trp	274180.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	507	pfam00067	NULL
6916	195972898	Disease	p.Arg413Glu	274180.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	416	COG2124	NULL
6916	195972898	Disease	p.Arg413Glu	274180.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	415	pfam00067	NULL
6916	261278370	Disease	p.Arg413Glu	274180.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	367	COG2124	NULL
6916	261278370	Disease	p.Arg413Glu	274180.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	358	pfam00067	NULL
6916	195972900	Disease	p.Arg413Glu	274180.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	416	COG2124	NULL
6916	195972900	Disease	p.Arg413Glu	274180.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	415	pfam00067	NULL
6916	261278372	Disease	p.Arg413Glu	274180.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	513	COG2124	NULL
6916	261278372	Disease	p.Arg413Glu	274180.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	506	pfam00067	NULL
6916	195972896	Disease	p.Arg413Glu	274180.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	416	COG2124	NULL
6916	195972896	Disease	p.Arg413Glu	274180.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274180	GHOSAL HEMATODIAPHYSEAL SYNDROME	OMIM	415	pfam00067	NULL
90338	296453072	Disease	p.Phe283Leu	264900.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	4	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Phe283Leu	264900.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	4	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Phe283Leu	264900.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	4	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Phe442Val	264900.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	208	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Phe442Val	264900.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	27	pfam00096	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Phe442Val	264900.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	27	smart00355	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Phe442Val	264900.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	208	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Phe442Val	264900.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	27	pfam00096	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Phe442Val	264900.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	27	smart00355	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Phe442Val	264900.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	208	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Phe442Val	264900.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	27	pfam00096	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Phe442Val	264900.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	27	smart00355	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Thr386Asn	264900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	115	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Thr386Asn	264900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	27	smart00355	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Thr386Asn	264900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	27	pfam00096	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Thr386Asn	264900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	115	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Thr386Asn	264900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	27	smart00355	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Thr386Asn	264900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	27	pfam00096	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Thr386Asn	264900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	115	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Thr386Asn	264900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	27	smart00355	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Thr386Asn	264900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	27	pfam00096	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Arg308Cys	264900.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	29	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Arg308Cys	264900.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	29	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Arg308Cys	264900.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	29	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Ala412Val	264900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	25	pfam00096	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Ala412Val	264900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	25	smart00355	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Ala412Val	264900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	141	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Ala412Val	264900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	25	pfam00096	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Ala412Val	264900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	25	smart00355	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Ala412Val	264900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	141	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Ala412Val	264900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	25	pfam00096	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Ala412Val	264900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	25	smart00355	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Ala412Val	264900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	141	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Ser576Arg	264900.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	21	smart00355	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Ser576Arg	264900.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	18	pfam00096	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Ser576Arg	264900.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	404	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Ser576Arg	264900.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	21	smart00355	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Ser576Arg	264900.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	18	pfam00096	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Ser576Arg	264900.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	404	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Ser576Arg	264900.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	21	smart00355	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Ser576Arg	264900.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	18	pfam00096	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Ser576Arg	264900.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	404	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Cys38Arg	264900.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	32	smart00349	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Cys38Arg	264900.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	31	pfam01352	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Cys38Arg	264900.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	48	cd07765	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Cys38Arg	264900.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	32	smart00349	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Cys38Arg	264900.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	31	pfam01352	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Cys38Arg	264900.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	48	cd07765	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Cys38Arg	264900.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	32	smart00349	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Cys38Arg	264900.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	31	pfam01352	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Cys38Arg	264900.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	48	cd07765	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Lys252Ile	264900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	No Domain	N/A	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Lys252Ile	264900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	No Domain	N/A	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Lys252Ile	264900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	No Domain	N/A	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Gly400Val	264900.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	4	pfam00096	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Gly400Val	264900.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	4	smart00355	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Gly400Val	264900.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	129	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Gly400Val	264900.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	4	pfam00096	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Gly400Val	264900.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	4	smart00355	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Gly400Val	264900.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	129	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Gly400Val	264900.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	4	pfam00096	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Gly400Val	264900.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	4	smart00355	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Gly400Val	264900.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	129	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Trp569Ser	264900.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	5	smart00355	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Trp569Ser	264900.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	8	pfam00096	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Trp569Ser	264900.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	397	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Trp569Ser	264900.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	5	smart00355	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Trp569Ser	264900.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	8	pfam00096	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Trp569Ser	264900.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	397	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Trp569Ser	264900.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	5	smart00355	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Trp569Ser	264900.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	8	pfam00096	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
90338	296453072	Disease	p.Trp569Ser	264900.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264900	FACTOR XI DEFICIENCY	OMIM	397	COG5048	38788302,NP_942596|156547246,NP_001096073|38788288,NP_150630
7372	131708	Disease	p.Arg96Gly	258900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258900	OROTIC ACIDURIA	OMIM	107	COG0461	4507835,NP_000364
7372	131708	Disease	p.Arg96Gly	258900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258900	OROTIC ACIDURIA	OMIM	101	COG0503	4507835,NP_000364
7372	131708	Disease	p.Arg96Gly	258900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258900	OROTIC ACIDURIA	OMIM	91	pfam00156	4507835,NP_000364
7372	131708	Disease	p.Val109Gly	258900.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258900	OROTIC ACIDURIA	OMIM	122	COG0461	4507835,NP_000364
7372	131708	Disease	p.Val109Gly	258900.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258900	OROTIC ACIDURIA	OMIM	132	COG0503	4507835,NP_000364
7372	131708	Disease	p.Val109Gly	258900.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258900	OROTIC ACIDURIA	OMIM	193	pfam00156	4507835,NP_000364
3425	92090608	Disease	p.Pro533Arg	252800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252800	HURLER SYNDROME	OMIM	537	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Gly409Arg	252800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252800	HURLER SYNDROME	OMIM	403	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Thr366Pro	252800.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252800	HURLER SYNDROME	OMIM	360	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Arg492Pro	252800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252800	SCHEIE SYNDROME	OMIM	495	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Leu490Pro	252800.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252800	HURLER-SCHEIE SYNDROME	OMIM	493	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Arg89Gln	252800.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252800	HURLER-SCHEIE SYNDROME	OMIM	67	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Ala300Thr	252800.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252800	IDUA PSEUDODEFICIENCY	OMIM	294	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Arg619Gly	252800.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252800	HURLER-SCHEIE SYNDROME	OMIM	No Domain	N/A	110611239,NP_000194
3425	92090608	Disease	p.Thr364Met	252800.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252800	HURLER-SCHEIE SYNDROME	OMIM	358	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Leu346Arg	252800.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252800	HURLER-SCHEIE SYNDROME||HURLER SYNDROME	OMIM	340	pfam01229	110611239,NP_000194
4598	417215	Disease	p.Asn301Thr	251170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	MEVALONIC ACIDURIA	OMIM	348	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Asn301Thr	251170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	MEVALONIC ACIDURIA	OMIM	409	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Asn301Thr	251170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	MEVALONIC ACIDURIA	OMIM	348	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Asn301Thr	251170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	MEVALONIC ACIDURIA	OMIM	409	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Val377Ile	251170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	HYPER-IgD SYNDROME	OMIM	441	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Val377Ile	251170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	HYPER-IgD SYNDROME	OMIM	523	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Val377Ile	251170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	HYPER-IgD SYNDROME	OMIM	441	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Val377Ile	251170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	HYPER-IgD SYNDROME	OMIM	523	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.His20Pro	251170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	HYPER-IgD SYNDROME||MEVALONIC ACIDURIA	OMIM	15	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.His20Pro	251170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	HYPER-IgD SYNDROME||MEVALONIC ACIDURIA	OMIM	40	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.His20Pro	251170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	HYPER-IgD SYNDROME||MEVALONIC ACIDURIA	OMIM	15	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.His20Pro	251170.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	HYPER-IgD SYNDROME||MEVALONIC ACIDURIA	OMIM	40	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ile268Thr	251170.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	HYPER-IgD SYNDROME||MEVALONIC ACIDURIA	OMIM	306	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ile268Thr	251170.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	HYPER-IgD SYNDROME||MEVALONIC ACIDURIA	OMIM	282	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ile268Thr	251170.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	HYPER-IgD SYNDROME||MEVALONIC ACIDURIA	OMIM	306	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ile268Thr	251170.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	HYPER-IgD SYNDROME||MEVALONIC ACIDURIA	OMIM	282	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Pro165Leu	251170.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	HYPER-IgD SYNDROME	OMIM	169	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Pro165Leu	251170.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	HYPER-IgD SYNDROME	OMIM	57	pfam00288	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Pro165Leu	251170.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	HYPER-IgD SYNDROME	OMIM	170_G	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Pro165Leu	251170.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	HYPER-IgD SYNDROME	OMIM	169	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Pro165Leu	251170.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	HYPER-IgD SYNDROME	OMIM	57	pfam00288	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Pro165Leu	251170.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	HYPER-IgD SYNDROME	OMIM	170_G	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ala334Thr	251170.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	MEVALONIC ACIDURIA	OMIM	385	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ala334Thr	251170.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	MEVALONIC ACIDURIA	OMIM	465	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ala334Thr	251170.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	MEVALONIC ACIDURIA	OMIM	385	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ala334Thr	251170.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	MEVALONIC ACIDURIA	OMIM	465	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Val310Met	251170.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	MEVALONIC ACIDURIA	OMIM	360	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Val310Met	251170.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	MEVALONIC ACIDURIA	OMIM	423	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Val310Met	251170.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	MEVALONIC ACIDURIA	OMIM	360	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Val310Met	251170.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=251170	MEVALONIC ACIDURIA	OMIM	423	COG0153	167001643,NP_001107657|4557769,NP_000422
594	129034	Disease	p.Arg183Pro	248611.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	110_G	COG3958	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Arg183Pro	248611.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	152	pfam02779	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Arg183Pro	248611.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	524	smart00861	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Arg183Pro	248611.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	140	cd07033	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Arg183Pro	248611.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	120	cd06586	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Arg183Pro	248611.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	126	cd07036	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Arg183Pro	248611.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	127	COG0022	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Arg183Pro	248611.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	110_G	COG3958	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Arg183Pro	248611.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	152	pfam02779	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Arg183Pro	248611.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	524	smart00861	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Arg183Pro	248611.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	140	cd07033	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Arg183Pro	248611.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	120	cd06586	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Arg183Pro	248611.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	126	cd07036	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Arg183Pro	248611.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	127	COG0022	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His156Tyr	248611.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	88	COG3958	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His156Tyr	248611.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	125	pfam02779	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His156Tyr	248611.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	375	smart00861	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His156Tyr	248611.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	114	cd07033	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His156Tyr	248611.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	93	cd06586	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His156Tyr	248611.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	98	cd07036	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His156Tyr	248611.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	101	COG0022	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His156Tyr	248611.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	88	COG3958	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His156Tyr	248611.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	125	pfam02779	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His156Tyr	248611.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	375	smart00861	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His156Tyr	248611.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	114	cd07033	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His156Tyr	248611.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	93	cd06586	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His156Tyr	248611.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	98	cd07036	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His156Tyr	248611.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248611	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB	OMIM	101	COG0022	4557353,NP_000047|34101272,NP_898871
1629	110671329	Disease	p.Phe215Cys	248610.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248610	MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, TYPE II	OMIM	341	COG0508	NULL
1629	110671329	Disease	p.Ile37Met	248610.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248610	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE II	OMIM	No Domain	N/A	NULL
1629	110671329	Disease	p.Gly323Ser	248610.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248610	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE II	OMIM	492	COG0508	NULL
1629	110671329	Disease	p.Gly323Ser	248610.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248610	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE II	OMIM	115	pfam00198	NULL
1629	110671329	Disease	p.His391Arg	248610.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248610	MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, TYPE II	OMIM	568	COG0508	NULL
1629	110671329	Disease	p.His391Arg	248610.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248610	MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, TYPE II	OMIM	207	pfam00198	NULL
3155	24418852	Disease	p.Val70Leu	246450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	36	cd07940	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	246450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	41	cd07938	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	246450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	42	cd07937	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	246450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	36	cd07939	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	246450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	38	cd07948	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	246450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	38	cd07943	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	246450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	45	cd03174	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	246450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	40	cd07947	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	246450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	36	cd07945	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	246450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	31	pfam00682	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	246450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	40	COG0119	62198232,NP_000182
3155	260654708	Disease	p.Val70Leu	246450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	36	cd07940	NULL
3155	260654708	Disease	p.Val70Leu	246450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	41	cd07938	NULL
3155	260654708	Disease	p.Val70Leu	246450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	98	cd07937	NULL
3155	260654708	Disease	p.Val70Leu	246450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	36	cd07939	NULL
3155	260654708	Disease	p.Val70Leu	246450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	38	cd07948	NULL
3155	260654708	Disease	p.Val70Leu	246450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	38	cd07943	NULL
3155	260654708	Disease	p.Val70Leu	246450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	45	cd03174	NULL
3155	260654708	Disease	p.Val70Leu	246450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	31	pfam00682	NULL
3155	260654708	Disease	p.Val70Leu	246450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	40	COG0119	NULL
3155	24418852	Disease	p.Arg41Gln	246450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	7	cd07938	62198232,NP_000182
3155	24418852	Disease	p.Arg41Gln	246450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	7	cd07937	62198232,NP_000182
3155	24418852	Disease	p.Arg41Gln	246450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	9	cd07948	62198232,NP_000182
3155	24418852	Disease	p.Arg41Gln	246450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	9	cd07943	62198232,NP_000182
3155	24418852	Disease	p.Arg41Gln	246450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	6	cd03174	62198232,NP_000182
3155	24418852	Disease	p.Arg41Gln	246450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	11	COG0119	62198232,NP_000182
3155	260654708	Disease	p.Arg41Gln	246450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	7	cd07938	NULL
3155	260654708	Disease	p.Arg41Gln	246450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	7	cd07937	NULL
3155	260654708	Disease	p.Arg41Gln	246450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	9	cd07948	NULL
3155	260654708	Disease	p.Arg41Gln	246450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	9	cd07943	NULL
3155	260654708	Disease	p.Arg41Gln	246450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	6	cd03174	NULL
3155	260654708	Disease	p.Arg41Gln	246450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	11	COG0119	NULL
3155	24418852	Disease	p.Glu279Lys	246450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	277	cd07940	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	246450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	380	cd07938	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	246450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	283	cd07937	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	246450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	235	cd07939	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	246450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	242_G	cd07948	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	246450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	242	cd07943	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	246450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	467	cd03174	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	246450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	252	cd07947	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	246450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	237	cd07945	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	246450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	281	pfam00682	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	246450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	283	COG0119	62198232,NP_000182
3155	260654708	Disease	p.Glu279Lys	246450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246450	HMG-CoA LYASE DEFICIENCY	OMIM	No Domain	N/A	NULL
27130	34304379	Disease	p.Leu493Ser	243305.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243305	NEPHRONOPHTHISIS 2	OMIM	6	smart00248	NULL
27130	34304379	Disease	p.Leu493Ser	243305.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243305	NEPHRONOPHTHISIS 2	OMIM	6	pfam00023	NULL
27130	34304379	Disease	p.Leu493Ser	243305.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243305	NEPHRONOPHTHISIS 2	OMIM	258	cd00204	NULL
27130	34304379	Disease	p.Leu493Ser	243305.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243305	NEPHRONOPHTHISIS 2	OMIM	425	COG0666	NULL
27130	68565551	Disease	p.Leu493Ser	243305.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243305	NEPHRONOPHTHISIS 2	OMIM	6	smart00248	34304381,NP_055240
27130	68565551	Disease	p.Leu493Ser	243305.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243305	NEPHRONOPHTHISIS 2	OMIM	6	pfam00023	34304381,NP_055240
27130	68565551	Disease	p.Leu493Ser	243305.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243305	NEPHRONOPHTHISIS 2	OMIM	258	cd00204	34304381,NP_055240
27130	68565551	Disease	p.Leu493Ser	243305.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243305	NEPHRONOPHTHISIS 2	OMIM	425	COG0666	34304381,NP_055240
60343	283945604	Disease	p.Lys37Glu	238331.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	NULL
60343	283945608	Disease	p.Lys37Glu	238331.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	NULL
60343	118572645	Disease	p.Lys37Glu	238331.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	283945610,NP_001164603|283945606,NP_068578
60343	118572645	Disease	p.Lys37Glu	238331.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	283945610,NP_001164603|283945606,NP_068578
60343	283945604	Disease	p.Pro453Leu	238331.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	NULL
60343	283945608	Disease	p.Pro453Leu	238331.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	NULL
60343	118572645	Disease	p.Pro453Leu	238331.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	283945610,NP_001164603|283945606,NP_068578
60343	118572645	Disease	p.Pro453Leu	238331.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	283945610,NP_001164603|283945606,NP_068578
60343	283945604	Disease	p.Arg460Gly	238331.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	NULL
60343	283945608	Disease	p.Arg460Gly	238331.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	NULL
60343	118572645	Disease	p.Arg460Gly	238331.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	283945610,NP_001164603|283945606,NP_068578
60343	118572645	Disease	p.Arg460Gly	238331.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	283945610,NP_001164603|283945606,NP_068578
79742	193804856	Disease	p.Arg460Gly	238331.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Arg460Gly	238331.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
60343	283945604	Disease	p.Gly229Cys	238331.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	NULL
60343	283945608	Disease	p.Gly229Cys	238331.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	NULL
60343	118572645	Disease	p.Gly229Cys	238331.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	283945610,NP_001164603|283945606,NP_068578
60343	118572645	Disease	p.Gly229Cys	238331.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	283945610,NP_001164603|283945606,NP_068578
60343	283945604	Disease	p.Ile393Thr	238331.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III||LEIGH SYNDROME	OMIM	No Domain	N/A	NULL
60343	283945608	Disease	p.Ile393Thr	238331.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III||LEIGH SYNDROME	OMIM	No Domain	N/A	NULL
60343	118572645	Disease	p.Ile393Thr	238331.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III||LEIGH SYNDROME	OMIM	No Domain	N/A	283945610,NP_001164603|283945606,NP_068578
60343	118572645	Disease	p.Ile393Thr	238331.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III||LEIGH SYNDROME	OMIM	No Domain	N/A	283945610,NP_001164603|283945606,NP_068578
60343	283945604	Disease	p.Glu375Lys	238331.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	NULL
60343	283945608	Disease	p.Glu375Lys	238331.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	NULL
60343	118572645	Disease	p.Glu375Lys	238331.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	283945610,NP_001164603|283945606,NP_068578
60343	118572645	Disease	p.Glu375Lys	238331.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	283945610,NP_001164603|283945606,NP_068578
60343	283945604	Disease	p.Met361Val	238331.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	NULL
60343	283945608	Disease	p.Met361Val	238331.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	NULL
60343	118572645	Disease	p.Met361Val	238331.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	283945610,NP_001164603|283945606,NP_068578
60343	118572645	Disease	p.Met361Val	238331.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238331	MAPLE SYRUP URINE DISEASE, TYPE III	OMIM	No Domain	N/A	283945610,NP_001164603|283945606,NP_068578
275	257796254	Disease	p.Gly269Asp	238310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	18	pfam08669	NULL
275	257796254	Disease	p.Gly269Asp	238310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	411	COG0404	NULL
275	1346122	Disease	p.Gly269Asp	238310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	387	pfam01571	44662838,NP_000472
275	1346122	Disease	p.Gly269Asp	238310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	347	COG0404	44662838,NP_000472
275	257796256	Disease	p.Gly269Asp	238310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	425	COG0404	NULL
275	257796256	Disease	p.Gly269Asp	238310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	61	pfam08669	NULL
275	257796258	Disease	p.Gly269Asp	238310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	387	pfam01571	NULL
275	257796258	Disease	p.Gly269Asp	238310.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	347	COG0404	NULL
275	257796254	Disease	p.Gly47Arg	238310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	19	COG0404	NULL
275	1346122	Disease	p.Gly47Arg	238310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	19	COG0404	44662838,NP_000472
275	257796256	Disease	p.Gly47Arg	238310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	41	pfam01571	NULL
275	257796256	Disease	p.Gly47Arg	238310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	126	COG0404	NULL
275	257796258	Disease	p.Gly47Arg	238310.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	19	COG0404	NULL
275	257796254	Disease	p.His42Arg	238310.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	14	COG0404	NULL
275	1346122	Disease	p.His42Arg	238310.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	14	COG0404	44662838,NP_000472
275	257796256	Disease	p.His42Arg	238310.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	36	pfam01571	NULL
275	257796256	Disease	p.His42Arg	238310.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	121	COG0404	NULL
275	257796258	Disease	p.His42Arg	238310.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	14	COG0404	NULL
275	257796254	Disease	p.Asp276His	238310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	33	pfam08669	NULL
275	257796254	Disease	p.Asp276His	238310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	420	COG0404	NULL
275	1346122	Disease	p.Asp276His	238310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	404	pfam01571	44662838,NP_000472
275	1346122	Disease	p.Asp276His	238310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	354	COG0404	44662838,NP_000472
275	257796256	Disease	p.Asp276His	238310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	437	COG0404	NULL
275	257796256	Disease	p.Asp276His	238310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	79	pfam08669	NULL
275	257796258	Disease	p.Asp276His	238310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	404	pfam01571	NULL
275	257796258	Disease	p.Asp276His	238310.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	354	COG0404	NULL
275	257796254	Disease	p.Arg320His	238310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	170	pfam08669	NULL
275	257796254	Disease	p.Arg320His	238310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	515	COG0404	NULL
275	1346122	Disease	p.Arg320His	238310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	420	COG0404	44662838,NP_000472
275	1346122	Disease	p.Arg320His	238310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	33	pfam08669	44662838,NP_000472
275	257796256	Disease	p.Arg320His	238310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	534	COG0404	NULL
275	257796256	Disease	p.Arg320His	238310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	221	pfam08669	NULL
275	257796258	Disease	p.Arg320His	238310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	420	COG0404	NULL
275	257796258	Disease	p.Arg320His	238310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238310	GLYCINE ENCEPHALOPATHY	OMIM	33	pfam08669	NULL
2731	229462870	Disease	p.Ser564Ile	238300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238300	GLYCINE ENCEPHALOPATHY	OMIM	7	cd06450	108773801,NP_000161
2731	229462870	Disease	p.Ser564Ile	238300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238300	GLYCINE ENCEPHALOPATHY	OMIM	89	COG1003	108773801,NP_000161
2731	229462870	Disease	p.Ser564Ile	238300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238300	GLYCINE ENCEPHALOPATHY	OMIM	34	cd00613	108773801,NP_000161
2731	229462870	Disease	p.Arg515Ser	238300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238300	GLYCINE ENCEPHALOPATHY	OMIM	14	COG1003	108773801,NP_000161
2731	229462870	Disease	p.Gly761Arg	238300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238300	GLYCINE ENCEPHALOPATHY	OMIM	254	cd01494	108773801,NP_000161
2731	229462870	Disease	p.Gly761Arg	238300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238300	GLYCINE ENCEPHALOPATHY	OMIM	265_G	cd06450	108773801,NP_000161
2731	229462870	Disease	p.Gly761Arg	238300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238300	GLYCINE ENCEPHALOPATHY	OMIM	287	COG1003	108773801,NP_000161
2731	229462870	Disease	p.Gly761Arg	238300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238300	GLYCINE ENCEPHALOPATHY	OMIM	246	cd00613	108773801,NP_000161
2731	229462870	Disease	p.Ala802Val	238300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238300	GLYCINE ENCEPHALOPATHY	OMIM	308	cd06450	108773801,NP_000161
2731	229462870	Disease	p.Ala802Val	238300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238300	GLYCINE ENCEPHALOPATHY	OMIM	345	COG1003	108773801,NP_000161
2731	229462870	Disease	p.Ala802Val	238300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238300	GLYCINE ENCEPHALOPATHY	OMIM	293	cd00613	108773801,NP_000161
2731	229462870	Disease	p.Met1Thr	238300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238300	GLYCINE ENCEPHALOPATHY	OMIM	No Domain	N/A	108773801,NP_000161
2731	229462870	Disease	p.Ala389Val	238300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238300	GLYCINE ENCEPHALOPATHY	OMIM	374	COG0403	108773801,NP_000161
2731	229462870	Disease	p.Ala389Val	238300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238300	GLYCINE ENCEPHALOPATHY	OMIM	361	pfam02347	108773801,NP_000161
2731	229462870	Disease	p.Ala389Val	238300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238300	GLYCINE ENCEPHALOPATHY	OMIM	317	cd00613	108773801,NP_000161
2731	229462870	Disease	p.Arg739His	238300.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238300	GLYCINE ENCEPHALOPATHY	OMIM	230	cd01494	108773801,NP_000161
2731	229462870	Disease	p.Arg739His	238300.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238300	GLYCINE ENCEPHALOPATHY	OMIM	242	cd06450	108773801,NP_000161
2731	229462870	Disease	p.Arg739His	238300.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238300	GLYCINE ENCEPHALOPATHY	OMIM	265	COG1003	108773801,NP_000161
2731	229462870	Disease	p.Arg739His	238300.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238300	GLYCINE ENCEPHALOPATHY	OMIM	221	cd00613	108773801,NP_000161
5836	255653002	Disease	p.Val221Ile	232700.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232700	GLYCOGEN STORAGE DISEASE VI||HERS DISEASE	OMIM	151	pfam00343	NULL
5836	255653002	Disease	p.Val221Ile	232700.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232700	GLYCOGEN STORAGE DISEASE VI||HERS DISEASE	OMIM	199	cd01635	NULL
5836	255653002	Disease	p.Val221Ile	232700.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232700	GLYCOGEN STORAGE DISEASE VI||HERS DISEASE	OMIM	268	COG0058	NULL
5836	255653002	Disease	p.Val221Ile	232700.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232700	GLYCOGEN STORAGE DISEASE VI||HERS DISEASE	OMIM	256	cd04300	NULL
5836	6648082	Disease	p.Val221Ile	232700.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232700	GLYCOGEN STORAGE DISEASE VI||HERS DISEASE	OMIM	116	pfam00343	71037379,NP_002854
5836	6648082	Disease	p.Val221Ile	232700.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232700	GLYCOGEN STORAGE DISEASE VI||HERS DISEASE	OMIM	159	cd01635	71037379,NP_002854
5836	6648082	Disease	p.Val221Ile	232700.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232700	GLYCOGEN STORAGE DISEASE VI||HERS DISEASE	OMIM	228	COG0058	71037379,NP_002854
5836	6648082	Disease	p.Val221Ile	232700.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232700	GLYCOGEN STORAGE DISEASE VI||HERS DISEASE	OMIM	219	cd04300	71037379,NP_002854
5836	255653002	Disease	p.Asn376Lys	232700.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232700	GLYCOGEN STORAGE DISEASE VI||HERS DISEASE	OMIM	306	pfam00343	NULL
5836	255653002	Disease	p.Asn376Lys	232700.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232700	GLYCOGEN STORAGE DISEASE VI||HERS DISEASE	OMIM	359	cd01635	NULL
5836	255653002	Disease	p.Asn376Lys	232700.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232700	GLYCOGEN STORAGE DISEASE VI||HERS DISEASE	OMIM	416	COG0058	NULL
5836	255653002	Disease	p.Asn376Lys	232700.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232700	GLYCOGEN STORAGE DISEASE VI||HERS DISEASE	OMIM	422	cd04300	NULL
5836	6648082	Disease	p.Asn376Lys	232700.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232700	GLYCOGEN STORAGE DISEASE VI||HERS DISEASE	OMIM	272	pfam00343	71037379,NP_002854
5836	6648082	Disease	p.Asn376Lys	232700.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232700	GLYCOGEN STORAGE DISEASE VI||HERS DISEASE	OMIM	325	cd01635	71037379,NP_002854
5836	6648082	Disease	p.Asn376Lys	232700.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232700	GLYCOGEN STORAGE DISEASE VI||HERS DISEASE	OMIM	382	COG0058	71037379,NP_002854
5836	6648082	Disease	p.Asn376Lys	232700.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232700	GLYCOGEN STORAGE DISEASE VI||HERS DISEASE	OMIM	388	cd04300	71037379,NP_002854
2538	4557599	Disease	p.Arg83Cys	232200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	47	cd03381	NULL
2538	4557599	Disease	p.Arg83Cys	232200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	60	pfam01569	NULL
2538	4557599	Disease	p.Arg83Cys	232200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	33	smart00014	NULL
2538	4557599	Disease	p.Arg83Cys	232200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	135	COG0671	NULL
2538	4557599	Disease	p.Arg83Cys	232200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	55	cd01610	NULL
2538	4557599	Disease	p.Arg295Cys	232200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	No Domain	N/A	NULL
2538	4557599	Disease	p.Asp38Val	232200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	41	COG0671	NULL
2538	4557599	Disease	p.Trp77Arg	232200.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	41	cd03381	NULL
2538	4557599	Disease	p.Trp77Arg	232200.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	50	pfam01569	NULL
2538	4557599	Disease	p.Trp77Arg	232200.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	23	smart00014	NULL
2538	4557599	Disease	p.Trp77Arg	232200.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	129	COG0671	NULL
2538	4557599	Disease	p.Trp77Arg	232200.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	47	cd01610	NULL
2538	4557599	Disease	p.Glu110Lys	232200.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	77	cd03381	NULL
2538	4557599	Disease	p.Glu110Lys	232200.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	133	pfam01569	NULL
2538	4557599	Disease	p.Glu110Lys	232200.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	119	smart00014	NULL
2538	4557599	Disease	p.Glu110Lys	232200.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	190	COG0671	NULL
2538	4557599	Disease	p.Glu110Lys	232200.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	156	cd01610	NULL
2538	4557599	Disease	p.Ala124Thr	232200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	91	cd03381	NULL
2538	4557599	Disease	p.Ala124Thr	232200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	166	pfam01569	NULL
2538	4557599	Disease	p.Ala124Thr	232200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	133	smart00014	NULL
2538	4557599	Disease	p.Ala124Thr	232200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	204	COG0671	NULL
2538	4557599	Disease	p.Ala124Thr	232200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	170	cd01610	NULL
2538	4557599	Disease	p.Gly184Glu	232200.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	176	cd03381	NULL
2538	4557599	Disease	p.Gly184Glu	232200.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	313	pfam01569	NULL
2538	4557599	Disease	p.Gly184Glu	232200.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	214	smart00014	NULL
2538	4557599	Disease	p.Gly184Glu	232200.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	274	COG0671	NULL
2538	4557599	Disease	p.Gly184Glu	232200.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	398	cd01610	NULL
2538	4557599	Disease	p.Gly188Arg	232200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	180	cd03381	NULL
2538	4557599	Disease	p.Gly188Arg	232200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	321	pfam01569	NULL
2538	4557599	Disease	p.Gly188Arg	232200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	218	smart00014	NULL
2538	4557599	Disease	p.Gly188Arg	232200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	278	COG0671	NULL
2538	4557599	Disease	p.Gly188Arg	232200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	402	cd01610	NULL
2538	4557599	Disease	p.Ile341Asp	232200.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	No Domain	N/A	NULL
2538	4557599	Disease	p.Val166Gly	232200.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	158	cd03381	NULL
2538	4557599	Disease	p.Val166Gly	232200.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	295	pfam01569	NULL
2538	4557599	Disease	p.Val166Gly	232200.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	196	smart00014	NULL
2538	4557599	Disease	p.Val166Gly	232200.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	256	COG0671	NULL
2538	4557599	Disease	p.Val166Gly	232200.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232200	GLYCOGEN STORAGE DISEASE Ia	OMIM	329	cd01610	NULL
5096	295821216	Disease	p.Arg412Trp	232050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232050	PROPIONIC ACIDEMIA	OMIM	426	pfam01039	NULL
5096	295821216	Disease	p.Arg412Trp	232050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232050	PROPIONIC ACIDEMIA	OMIM	450	COG4799	NULL
5096	124106304	Disease	p.Arg412Trp	232050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232050	PROPIONIC ACIDEMIA	OMIM	446	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Arg412Trp	232050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232050	PROPIONIC ACIDEMIA	OMIM	470	COG4799	119943100,NP_000523
5096	295821216	Disease	p.Glu168Lys	232050.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232050	PROPIONIC ACIDEMIA	OMIM	168	COG0777	NULL
5096	295821216	Disease	p.Glu168Lys	232050.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232050	PROPIONIC ACIDEMIA	OMIM	96	pfam01039	NULL
5096	295821216	Disease	p.Glu168Lys	232050.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232050	PROPIONIC ACIDEMIA	OMIM	148	COG4799	NULL
5096	124106304	Disease	p.Glu168Lys	232050.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232050	PROPIONIC ACIDEMIA	OMIM	193	COG0777	119943100,NP_000523
5096	124106304	Disease	p.Glu168Lys	232050.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232050	PROPIONIC ACIDEMIA	OMIM	134	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Glu168Lys	232050.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232050	PROPIONIC ACIDEMIA	OMIM	168	COG4799	119943100,NP_000523
5096	295821216	Disease	p.Thr428Ile	232050.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232050	PROPIONIC ACIDEMIA	OMIM	442	pfam01039	NULL
5096	295821216	Disease	p.Thr428Ile	232050.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232050	PROPIONIC ACIDEMIA	OMIM	466	COG4799	NULL
5096	124106304	Disease	p.Thr428Ile	232050.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232050	PROPIONIC ACIDEMIA	OMIM	462	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Thr428Ile	232050.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232050	PROPIONIC ACIDEMIA	OMIM	486	COG4799	119943100,NP_000523
5096	295821216	Disease	p.Tyr435Cys	232050.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232050	PROPIONIC ACIDEMIA	OMIM	449	pfam01039	NULL
5096	295821216	Disease	p.Tyr435Cys	232050.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232050	PROPIONIC ACIDEMIA	OMIM	473	COG4799	NULL
5096	124106304	Disease	p.Tyr435Cys	232050.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232050	PROPIONIC ACIDEMIA	OMIM	471	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Tyr435Cys	232050.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232050	PROPIONIC ACIDEMIA	OMIM	495	COG4799	119943100,NP_000523
5095	295821183	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	187	pfam07478	NULL
5095	295821183	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	179	pfam02786	NULL
5095	295821183	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	300	COG1038	NULL
5095	295821183	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	182	pfam08443	NULL
5095	295821183	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	378	COG0439	NULL
5095	295821183	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	384	COG1181	NULL
5095	295821183	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	300	COG4770	NULL
5095	295821183	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	358	COG0458	NULL
5095	189095269	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	400	COG0458	NULL
5095	189095269	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	326	COG4770	NULL
5095	189095269	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	417	COG1181	NULL
5095	189095269	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	407	COG0439	NULL
5095	189095269	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	220	pfam07478	NULL
5095	189095269	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	206	pfam08443	NULL
5095	189095269	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	326	COG1038	NULL
5095	189095269	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	205	pfam02786	NULL
5095	308153661	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	187	pfam07478	65506442,NP_000273
5095	308153661	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	179	pfam02786	65506442,NP_000273
5095	308153661	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	300	COG1038	65506442,NP_000273
5095	308153661	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	182	pfam08443	65506442,NP_000273
5095	308153661	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	300	COG4770	65506442,NP_000273
5095	308153661	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	378	COG0439	65506442,NP_000273
5095	308153661	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	384	COG1181	65506442,NP_000273
5095	308153661	Disease	p.Met348Lys	232000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=232000	PROPIONIC ACIDEMIA	OMIM	358	COG0458	65506442,NP_000273
2110	292495008	Disease	p.Met1Thr	231675.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231675	MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	No Domain	N/A	119703746,NP_004444
2110	292495008	Disease	p.Ala84Thr	231675.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231675	MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	19	COG0644	119703746,NP_004444
2110	292495008	Disease	p.Arg175Leu	231675.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231675	MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	123	COG0644	119703746,NP_004444
2110	292495008	Disease	p.Leu127His	231675.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231675	MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY	OMIM	66	COG0644	119703746,NP_004444
3795	5670342	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	46	pfam00294	NULL
3795	5670342	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	99	cd01168	NULL
3795	5670342	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	39	cd01164	NULL
3795	5670342	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	88	cd00287	NULL
3795	5670342	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	24	cd01940	NULL
3795	5670342	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	37	cd01945	NULL
3795	5670342	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	35	cd01174	NULL
3795	5670342	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	63	COG0524	NULL
3795	5670342	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	45	cd01941	NULL
3795	5670342	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	36	cd01947	NULL
3795	5670342	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	52	cd01942	NULL
3795	5670342	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	51	cd01939	NULL
3795	5670342	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	46	cd01167	NULL
3795	5670342	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	41	cd01166	NULL
3795	5670342	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	36	cd01944	NULL
3795	5670342	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	24	cd01937	NULL
3795	1730044	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	46	pfam00294	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	99	cd01168	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	39	cd01164	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	88	cd00287	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	24	cd01940	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	35	cd01174	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	37	cd01945	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	63	COG0524	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	51	cd01939	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	36	cd01947	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	52	cd01942	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	46	cd01167	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	41	cd01166	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	36	cd01944	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	229800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	24	cd01937	4557693,NP_000212
3795	5670342	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	49	pfam00294	NULL
3795	5670342	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	102	cd01168	NULL
3795	5670342	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	45	cd01164	NULL
3795	5670342	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	91	cd00287	NULL
3795	5670342	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	27	cd01940	NULL
3795	5670342	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	40	cd01945	NULL
3795	5670342	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	38	cd01174	NULL
3795	5670342	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	67	COG0524	NULL
3795	5670342	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	48	cd01941	NULL
3795	5670342	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	39	cd01947	NULL
3795	5670342	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	55	cd01942	NULL
3795	5670342	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	57	cd01939	NULL
3795	5670342	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	49	cd01167	NULL
3795	5670342	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	44	cd01166	NULL
3795	5670342	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	39	cd01944	NULL
3795	5670342	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	32	cd01937	NULL
3795	1730044	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	49	pfam00294	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	102	cd01168	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	45	cd01164	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	91	cd00287	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	27	cd01940	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	38	cd01174	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	40	cd01945	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	67	COG0524	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	57	cd01939	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	39	cd01947	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	55	cd01942	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	49	cd01167	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	44	cd01166	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	39	cd01944	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	229800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229800	FRUCTOSURIA, ESSENTIAL	OMIM	32	cd01937	4557693,NP_000212
3818	78191798	Disease	p.Cys529Tyr	229000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229000	PREKALLIKREIN DEFICIENCY	OMIM	205	pfam00089	NULL
3818	78191798	Disease	p.Cys529Tyr	229000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229000	PREKALLIKREIN DEFICIENCY	OMIM	253	cd00190	NULL
3818	78191798	Disease	p.Cys529Tyr	229000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229000	PREKALLIKREIN DEFICIENCY	OMIM	378	smart00020	NULL
3818	78191798	Disease	p.Cys529Tyr	229000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229000	PREKALLIKREIN DEFICIENCY	OMIM	193	COG5640	NULL
3818	78191798	Disease	p.Gly104Arg	229000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229000	PREKALLIKREIN DEFICIENCY	OMIM	No Domain	N/A	NULL
3818	78191798	Disease	p.Asn124Ser	229000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229000	PREKALLIKREIN DEFICIENCY	OMIM	26	pfam00024	NULL
3818	78191798	Disease	p.Asn124Ser	229000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229000	PREKALLIKREIN DEFICIENCY	OMIM	15	smart00223	NULL
3818	78191798	Disease	p.Asn124Ser	229000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229000	PREKALLIKREIN DEFICIENCY	OMIM	20	cd01100	NULL
2177	67461071	Disease	p.Arg1236His	227646.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227646	FANCONI ANEMIA, COMPLEMENTATION GROUP D2	OMIM	No Domain	N/A	21361861,NP_149075
2177	66528888	Disease	p.Arg1236His	227646.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227646	FANCONI ANEMIA, COMPLEMENTATION GROUP D2	OMIM	No Domain	N/A	NULL
2177	67461071	Disease	p.Ser126Gly	227646.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227646	FANCONI ANEMIA, COMPLEMENTATION GROUP D2	OMIM	No Domain	N/A	21361861,NP_149075
2177	66528888	Disease	p.Ser126Gly	227646.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227646	FANCONI ANEMIA, COMPLEMENTATION GROUP D2	OMIM	No Domain	N/A	NULL
2177	67461071	Disease	p.Arg302Trp	227646.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227646	FANCONI ANEMIA, COMPLEMENTATION GROUP D2	OMIM	No Domain	N/A	21361861,NP_149075
2177	66528888	Disease	p.Arg302Trp	227646.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227646	FANCONI ANEMIA, COMPLEMENTATION GROUP D2	OMIM	No Domain	N/A	NULL
2176	1706762	Disease	p.Leu554Pro	227645.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227645	FANCONI ANEMIA, COMPLEMENTATION GROUP C	OMIM	564	pfam02106	56118236,NP_000127
2176	1706762	Disease	p.Leu496Arg	227645.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227645	FANCONI ANEMIA, COMPLEMEMENTATION GROUP C	OMIM	506	pfam02106	56118236,NP_000127
55795	85681034	Disease	p.Arg366Cys	227600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X SAN ANTONIO-1	OMIM	439	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Arg366Cys	227600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X SAN ANTONIO-1	OMIM	154	pfam01399	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Arg366Cys	227600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X SAN ANTONIO-1	OMIM	439	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Arg366Cys	227600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X SAN ANTONIO-1	OMIM	154	pfam01399	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Arg366Cys	227600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X SAN ANTONIO-1	OMIM	439	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Arg366Cys	227600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X SAN ANTONIO-1	OMIM	154	pfam01399	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Glu14Lys	227600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X VORARLBERG	OMIM	8	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Glu14Lys	227600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X VORARLBERG	OMIM	8	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Glu14Lys	227600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X VORARLBERG	OMIM	8	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Pro343Ser	227600.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X FRIULI	OMIM	401	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Pro343Ser	227600.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X FRIULI	OMIM	116	pfam01399	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Pro343Ser	227600.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X FRIULI	OMIM	401	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Pro343Ser	227600.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X FRIULI	OMIM	116	pfam01399	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Pro343Ser	227600.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X FRIULI	OMIM	401	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Pro343Ser	227600.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X FRIULI	OMIM	116	pfam01399	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Ser334Pro	227600.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	388	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Ser334Pro	227600.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	107	pfam01399	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Ser334Pro	227600.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	388	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Ser334Pro	227600.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	107	pfam01399	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Ser334Pro	227600.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	388	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Ser334Pro	227600.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	107	pfam01399	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Glu102Lys	227600.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	108	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Glu102Lys	227600.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	108	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Glu102Lys	227600.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	108	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Asp282Asn	227600.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X STOCKTON	OMIM	329	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Asp282Asn	227600.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X STOCKTON	OMIM	6	pfam01399	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Asp282Asn	227600.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X STOCKTON	OMIM	329	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Asp282Asn	227600.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X STOCKTON	OMIM	6	pfam01399	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Asp282Asn	227600.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X STOCKTON	OMIM	329	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Asp282Asn	227600.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X STOCKTON	OMIM	6	pfam01399	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Glu7Gly	227600.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X ST. LOUIS-2	OMIM	No Domain	N/A	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Glu7Gly	227600.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X ST. LOUIS-2	OMIM	No Domain	N/A	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Glu7Gly	227600.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X ST. LOUIS-2	OMIM	No Domain	N/A	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Glu14Gly	227600.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X KETCHIKAN	OMIM	8	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Glu14Gly	227600.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X KETCHIKAN	OMIM	8	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Glu14Gly	227600.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X KETCHIKAN	OMIM	8	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Glu32Gln	227600.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X TOKYO	OMIM	25	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Glu32Gln	227600.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X TOKYO	OMIM	25	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Glu32Gln	227600.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X TOKYO	OMIM	25	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Gly249Arg	227600.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	287	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Gly249Arg	227600.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	287	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Gly249Arg	227600.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	287	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Val298Met	227600.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	345	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Val298Met	227600.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	23	pfam01399	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Val298Met	227600.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	345	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Val298Met	227600.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	23	pfam01399	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Val298Met	227600.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	345	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Val298Met	227600.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	23	pfam01399	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Arg287Trp	227600.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	334	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Arg287Trp	227600.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	11	pfam01399	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Arg287Trp	227600.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	334	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Arg287Trp	227600.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	11	pfam01399	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Arg287Trp	227600.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	334	COG5600	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
55795	85681034	Disease	p.Arg287Trp	227600.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227600	FACTOR X DEFICIENCY	OMIM	11	pfam01399	224451001,NP_001120674|224451003,NP_001120675|209976986,NP_060856
2155	10518503	Disease	p.Arg304Gln	227500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII HARROW||FACTOR VII PADUA	OMIM	333	smart00020	NULL
2155	10518503	Disease	p.Arg304Gln	227500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII HARROW||FACTOR VII PADUA	OMIM	186	cd00190	NULL
2155	10518503	Disease	p.Arg304Gln	227500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII HARROW||FACTOR VII PADUA	OMIM	175	pfam00089	NULL
2155	119766	Disease	p.Arg304Gln	227500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII HARROW||FACTOR VII PADUA	OMIM	252	smart00020	4503645,NP_000122
2155	119766	Disease	p.Arg304Gln	227500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII HARROW||FACTOR VII PADUA	OMIM	145	pfam00089	4503645,NP_000122
2155	119766	Disease	p.Arg304Gln	227500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII HARROW||FACTOR VII PADUA	OMIM	152	cd00190	4503645,NP_000122
2155	10518503	Disease	p.Cys310Phe	227500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	347	smart00020	NULL
2155	10518503	Disease	p.Cys310Phe	227500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	214	cd00190	NULL
2155	10518503	Disease	p.Cys310Phe	227500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	182	pfam00089	NULL
2155	119766	Disease	p.Cys310Phe	227500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	265	smart00020	4503645,NP_000122
2155	119766	Disease	p.Cys310Phe	227500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	151	pfam00089	4503645,NP_000122
2155	119766	Disease	p.Cys310Phe	227500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	162	cd00190	4503645,NP_000122
2155	10518503	Disease	p.Cys178Tyr	227500.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	No Domain	N/A	NULL
2155	119766	Disease	p.Cys178Tyr	227500.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	No Domain	N/A	4503645,NP_000122
2155	10518503	Disease	p.Arg247His	227500.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII MIE	OMIM	102	smart00020	NULL
2155	10518503	Disease	p.Arg247His	227500.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII MIE	OMIM	91	cd00190	NULL
2155	10518503	Disease	p.Arg247His	227500.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII MIE	OMIM	91	pfam00089	NULL
2155	119766	Disease	p.Arg247His	227500.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII MIE	OMIM	60	smart00020	4503645,NP_000122
2155	119766	Disease	p.Arg247His	227500.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII MIE	OMIM	50	pfam00089	4503645,NP_000122
2155	119766	Disease	p.Arg247His	227500.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII MIE	OMIM	54	cd00190	4503645,NP_000122
2155	10518503	Disease	p.Thr359Met	227500.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	454	smart00020	NULL
2155	10518503	Disease	p.Thr359Met	227500.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	302	cd00190	NULL
2155	10518503	Disease	p.Thr359Met	227500.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	255	pfam00089	NULL
2155	119766	Disease	p.Thr359Met	227500.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	397	smart00020	4503645,NP_000122
2155	119766	Disease	p.Thr359Met	227500.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	219	pfam00089	4503645,NP_000122
2155	119766	Disease	p.Thr359Met	227500.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	261	cd00190	4503645,NP_000122
2155	10518503	Disease	p.Ala244Val	227500.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	99	smart00020	NULL
2155	10518503	Disease	p.Ala244Val	227500.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	88	cd00190	NULL
2155	10518503	Disease	p.Ala244Val	227500.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	88	pfam00089	NULL
2155	119766	Disease	p.Ala244Val	227500.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	56	smart00020	4503645,NP_000122
2155	119766	Disease	p.Ala244Val	227500.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	45	pfam00089	4503645,NP_000122
2155	119766	Disease	p.Ala244Val	227500.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	50	cd00190	4503645,NP_000122
2155	10518503	Disease	p.Asn57Asp	227500.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	15	pfam00594	NULL
2155	10518503	Disease	p.Asn57Asp	227500.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	43	smart00069	NULL
2155	119766	Disease	p.Asn57Asp	227500.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	16	smart00069	4503645,NP_000122
2155	10518503	Disease	p.Ala294Val	227500.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	287	smart00020	NULL
2155	10518503	Disease	p.Ala294Val	227500.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	168	cd00190	NULL
2155	10518503	Disease	p.Ala294Val	227500.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	165	pfam00089	NULL
2155	119766	Disease	p.Ala294Val	227500.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	193	smart00020	4503645,NP_000122
2155	119766	Disease	p.Ala294Val	227500.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	124	pfam00089	4503645,NP_000122
2155	119766	Disease	p.Ala294Val	227500.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	131	cd00190	4503645,NP_000122
2155	10518503	Disease	p.Arg353Gln	227500.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	MYOCARDIAL INFARCTION, DECREASED SUSCEPTIBILITY TO	OMIM	416	smart00020	NULL
2155	10518503	Disease	p.Arg353Gln	227500.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	MYOCARDIAL INFARCTION, DECREASED SUSCEPTIBILITY TO	OMIM	278	cd00190	NULL
2155	10518503	Disease	p.Arg353Gln	227500.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	MYOCARDIAL INFARCTION, DECREASED SUSCEPTIBILITY TO	OMIM	240	pfam00089	NULL
2155	119766	Disease	p.Arg353Gln	227500.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	MYOCARDIAL INFARCTION, DECREASED SUSCEPTIBILITY TO	OMIM	381	smart00020	4503645,NP_000122
2155	119766	Disease	p.Arg353Gln	227500.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	MYOCARDIAL INFARCTION, DECREASED SUSCEPTIBILITY TO	OMIM	213	pfam00089	4503645,NP_000122
2155	119766	Disease	p.Arg353Gln	227500.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	MYOCARDIAL INFARCTION, DECREASED SUSCEPTIBILITY TO	OMIM	255	cd00190	4503645,NP_000122
2155	10518503	Disease	p.Cys329Gly	227500.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	378	smart00020	NULL
2155	10518503	Disease	p.Cys329Gly	227500.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	253	cd00190	NULL
2155	10518503	Disease	p.Cys329Gly	227500.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	205	pfam00089	NULL
2155	119766	Disease	p.Cys329Gly	227500.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	343	smart00020	4503645,NP_000122
2155	119766	Disease	p.Cys329Gly	227500.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	179	pfam00089	4503645,NP_000122
2155	119766	Disease	p.Cys329Gly	227500.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	189	cd00190	4503645,NP_000122
2155	10518503	Disease	p.Glu25Lys	227500.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	6	smart00069	NULL
2155	119766	Disease	p.Glu25Lys	227500.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	No Domain	N/A	4503645,NP_000122
2155	10518503	Disease	p.His348Gln	227500.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	411	smart00020	NULL
2155	10518503	Disease	p.His348Gln	227500.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	273	cd00190	NULL
2155	10518503	Disease	p.His348Gln	227500.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	231	pfam00089	NULL
2155	119766	Disease	p.His348Gln	227500.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	366	smart00020	4503645,NP_000122
2155	119766	Disease	p.His348Gln	227500.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	202	pfam00089	4503645,NP_000122
2155	119766	Disease	p.His348Gln	227500.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	231	cd00190	4503645,NP_000122
2155	10518503	Disease	p.Gly354Cys	227500.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	420	smart00020	NULL
2155	10518503	Disease	p.Gly354Cys	227500.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	279	cd00190	NULL
2155	10518503	Disease	p.Gly354Cys	227500.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	241	pfam00089	NULL
2155	119766	Disease	p.Gly354Cys	227500.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	384	smart00020	4503645,NP_000122
2155	119766	Disease	p.Gly354Cys	227500.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	214	pfam00089	4503645,NP_000122
2155	119766	Disease	p.Gly354Cys	227500.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	256	cd00190	4503645,NP_000122
2155	10518503	Disease	p.Phe328Ser	227500.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	368	smart00020	NULL
2155	10518503	Disease	p.Phe328Ser	227500.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	233	cd00190	NULL
2155	10518503	Disease	p.Phe328Ser	227500.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	204	pfam00089	NULL
2155	119766	Disease	p.Phe328Ser	227500.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	339	smart00020	4503645,NP_000122
2155	119766	Disease	p.Phe328Ser	227500.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	178	pfam00089	4503645,NP_000122
2155	119766	Disease	p.Phe328Ser	227500.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227500	FACTOR VII DEFICIENCY	OMIM	188	cd00190	4503645,NP_000122
669	130350	Disease	p.Arg89Cys	222800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222800	BISPHOSPHOGLYCEROMUTASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	148	COG0588	40353764,NP_954655|4502445,NP_001715
669	130350	Disease	p.Arg89Cys	222800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222800	BISPHOSPHOGLYCEROMUTASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	117	COG0406	40353764,NP_954655|4502445,NP_001715
669	130350	Disease	p.Arg89Cys	222800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222800	BISPHOSPHOGLYCEROMUTASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	293	cd07040	40353764,NP_954655|4502445,NP_001715
669	130350	Disease	p.Arg89Cys	222800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222800	BISPHOSPHOGLYCEROMUTASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	181	cd07067	40353764,NP_954655|4502445,NP_001715
669	130350	Disease	p.Arg89Cys	222800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222800	BISPHOSPHOGLYCEROMUTASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	632	smart00855	40353764,NP_954655|4502445,NP_001715
669	130350	Disease	p.Arg89Cys	222800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222800	BISPHOSPHOGLYCEROMUTASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	309	pfam00300	40353764,NP_954655|4502445,NP_001715
669	130350	Disease	p.Arg89Cys	222800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222800	BISPHOSPHOGLYCEROMUTASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	148	COG0588	40353764,NP_954655|4502445,NP_001715
669	130350	Disease	p.Arg89Cys	222800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222800	BISPHOSPHOGLYCEROMUTASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	117	COG0406	40353764,NP_954655|4502445,NP_001715
669	130350	Disease	p.Arg89Cys	222800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222800	BISPHOSPHOGLYCEROMUTASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	293	cd07040	40353764,NP_954655|4502445,NP_001715
669	130350	Disease	p.Arg89Cys	222800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222800	BISPHOSPHOGLYCEROMUTASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	181	cd07067	40353764,NP_954655|4502445,NP_001715
669	130350	Disease	p.Arg89Cys	222800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222800	BISPHOSPHOGLYCEROMUTASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	632	smart00855	40353764,NP_954655|4502445,NP_001715
669	130350	Disease	p.Arg89Cys	222800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222800	BISPHOSPHOGLYCEROMUTASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	309	pfam00300	40353764,NP_954655|4502445,NP_001715
3291	30316367	Disease	p.Arg208Cys	218030.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	APPARENT MINERALOCORTICOID EXCESS	OMIM	147	COG4221	119392083,NP_000187
3291	30316367	Disease	p.Arg208Cys	218030.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	APPARENT MINERALOCORTICOID EXCESS	OMIM	136	COG0300	119392083,NP_000187
3291	30316367	Disease	p.Arg208Cys	218030.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	APPARENT MINERALOCORTICOID EXCESS	OMIM	177	pfam00106	119392083,NP_000187
3291	30316367	Disease	p.Arg208Cys	218030.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	APPARENT MINERALOCORTICOID EXCESS	OMIM	128	COG3967	119392083,NP_000187
3291	30316367	Disease	p.Arg208Cys	218030.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	APPARENT MINERALOCORTICOID EXCESS	OMIM	303	COG1028	119392083,NP_000187
3291	30316367	Disease	p.Arg213Cys	218030.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	APPARENT MINERALOCORTICOID EXCESS	OMIM	154	COG4221	119392083,NP_000187
3291	30316367	Disease	p.Arg213Cys	218030.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	APPARENT MINERALOCORTICOID EXCESS	OMIM	154	COG0300	119392083,NP_000187
3291	30316367	Disease	p.Arg213Cys	218030.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	APPARENT MINERALOCORTICOID EXCESS	OMIM	187	pfam00106	119392083,NP_000187
3291	30316367	Disease	p.Arg213Cys	218030.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	APPARENT MINERALOCORTICOID EXCESS	OMIM	135	COG3967	119392083,NP_000187
3291	30316367	Disease	p.Arg213Cys	218030.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	APPARENT MINERALOCORTICOID EXCESS	OMIM	388	COG1028	119392083,NP_000187
3291	30316367	Disease	p.Arg337Cys	218030.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	APPARENT MINERALOCORTICOID EXCESS	OMIM	299	COG0300	119392083,NP_000187
3291	30316367	Disease	p.Arg208His	218030.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	APPARENT MINERALOCORTICOID EXCESS	OMIM	147	COG4221	119392083,NP_000187
3291	30316367	Disease	p.Arg208His	218030.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	APPARENT MINERALOCORTICOID EXCESS	OMIM	136	COG0300	119392083,NP_000187
3291	30316367	Disease	p.Arg208His	218030.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	APPARENT MINERALOCORTICOID EXCESS	OMIM	177	pfam00106	119392083,NP_000187
3291	30316367	Disease	p.Arg208His	218030.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	APPARENT MINERALOCORTICOID EXCESS	OMIM	128	COG3967	119392083,NP_000187
3291	30316367	Disease	p.Arg208His	218030.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	APPARENT MINERALOCORTICOID EXCESS	OMIM	303	COG1028	119392083,NP_000187
3291	30316367	Disease	p.Arg279Cys	218030.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	APPARENT MINERALOCORTICOID EXCESS	OMIM	230	COG4221	119392083,NP_000187
3291	30316367	Disease	p.Arg279Cys	218030.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	APPARENT MINERALOCORTICOID EXCESS	OMIM	234	COG0300	119392083,NP_000187
3291	30316367	Disease	p.Arg279Cys	218030.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	APPARENT MINERALOCORTICOID EXCESS	OMIM	203	COG3967	119392083,NP_000187
3291	30316367	Disease	p.Arg279Cys	218030.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	APPARENT MINERALOCORTICOID EXCESS	OMIM	570	COG1028	119392083,NP_000187
3291	30316367	Disease	p.Pro227Leu	218030.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	HYPERTENSION, MILD LOW-RENIN||APPARENT MINERALOCORTICOID EXCESS, MILD	OMIM	168	COG4221	119392083,NP_000187
3291	30316367	Disease	p.Pro227Leu	218030.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	HYPERTENSION, MILD LOW-RENIN||APPARENT MINERALOCORTICOID EXCESS, MILD	OMIM	169	COG0300	119392083,NP_000187
3291	30316367	Disease	p.Pro227Leu	218030.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	HYPERTENSION, MILD LOW-RENIN||APPARENT MINERALOCORTICOID EXCESS, MILD	OMIM	201	pfam00106	119392083,NP_000187
3291	30316367	Disease	p.Pro227Leu	218030.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	HYPERTENSION, MILD LOW-RENIN||APPARENT MINERALOCORTICOID EXCESS, MILD	OMIM	149	COG3967	119392083,NP_000187
3291	30316367	Disease	p.Pro227Leu	218030.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=218030	HYPERTENSION, MILD LOW-RENIN||APPARENT MINERALOCORTICOID EXCESS, MILD	OMIM	403	COG1028	119392083,NP_000187
3627	21542456	Disease	p.Arg499Ser	217070.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217070	C7 DEFICIENCY||C7 AND C6 DEFICIENCY, COMBINED SUBTOTAL	OMIM	No Domain	N/A	149999382,NP_001556
3627	21542456	Disease	p.Gly357Arg	217070.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217070	C7 DEFICIENCY	OMIM	No Domain	N/A	149999382,NP_001556
5688	12643540	Disease	p.Glu98Ala	217050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217050	C6 A/B POLYMORPHISM	OMIM	119	COG0638	4506189,NP_002783
5688	12643540	Disease	p.Glu98Ala	217050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217050	C6 A/B POLYMORPHISM	OMIM	105	cd03752	4506189,NP_002783
5688	12643540	Disease	p.Glu98Ala	217050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217050	C6 A/B POLYMORPHISM	OMIM	95	cd03749	4506189,NP_002783
5688	12643540	Disease	p.Glu98Ala	217050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217050	C6 A/B POLYMORPHISM	OMIM	98	cd03750	4506189,NP_002783
5688	12643540	Disease	p.Glu98Ala	217050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217050	C6 A/B POLYMORPHISM	OMIM	99	cd03751	4506189,NP_002783
5688	12643540	Disease	p.Glu98Ala	217050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217050	C6 A/B POLYMORPHISM	OMIM	105	cd01911	4506189,NP_002783
5688	12643540	Disease	p.Glu98Ala	217050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217050	C6 A/B POLYMORPHISM	OMIM	96	cd03753	4506189,NP_002783
5688	12643540	Disease	p.Glu98Ala	217050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217050	C6 A/B POLYMORPHISM	OMIM	97	cd03755	4506189,NP_002783
5688	12643540	Disease	p.Glu98Ala	217050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217050	C6 A/B POLYMORPHISM	OMIM	269	cd01901	4506189,NP_002783
5688	12643540	Disease	p.Glu98Ala	217050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217050	C6 A/B POLYMORPHISM	OMIM	79	cd01912	4506189,NP_002783
5688	12643540	Disease	p.Glu98Ala	217050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217050	C6 A/B POLYMORPHISM	OMIM	71	cd03764	4506189,NP_002783
5688	12643540	Disease	p.Glu98Ala	217050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217050	C6 A/B POLYMORPHISM	OMIM	70	cd03763	4506189,NP_002783
5688	12643540	Disease	p.Glu98Ala	217050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217050	C6 A/B POLYMORPHISM	OMIM	84	cd01906	4506189,NP_002783
5688	12643540	Disease	p.Glu98Ala	217050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217050	C6 A/B POLYMORPHISM	OMIM	93	pfam00227	4506189,NP_002783
5688	12643540	Disease	p.Glu98Ala	217050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217050	C6 A/B POLYMORPHISM	OMIM	79	cd03758	4506189,NP_002783
5688	12643540	Disease	p.Glu98Ala	217050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217050	C6 A/B POLYMORPHISM	OMIM	97	cd03756	4506189,NP_002783
5688	12643540	Disease	p.Glu98Ala	217050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217050	C6 A/B POLYMORPHISM	OMIM	104	cd03754	4506189,NP_002783
3426	116133	Disease	p.His400Leu	217030.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217030	COMPLEMENT FACTOR I DEFICIENCY	OMIM	109	smart00020	119392081,NP_000195
3426	116133	Disease	p.His400Leu	217030.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217030	COMPLEMENT FACTOR I DEFICIENCY	OMIM	96	cd00190	119392081,NP_000195
3426	116133	Disease	p.His400Leu	217030.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217030	COMPLEMENT FACTOR I DEFICIENCY	OMIM	96	pfam00089	119392081,NP_000195
3426	116133	Disease	p.Asp506Val	217030.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217030	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3	OMIM	458	smart00020	119392081,NP_000195
3426	116133	Disease	p.Asp506Val	217030.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217030	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3	OMIM	306	cd00190	119392081,NP_000195
3426	116133	Disease	p.Asp506Val	217030.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217030	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3	OMIM	259	pfam00089	119392081,NP_000195
3426	116133	Disease	p.Gly243Asp	217030.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217030	GLOMERULONEPHRITIS WITH ISOLATED C3 DEPOSITS AND FACTOR I DEFICIENCY	OMIM	44	smart00192	119392081,NP_000195
3426	116133	Disease	p.Gly243Asp	217030.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217030	GLOMERULONEPHRITIS WITH ISOLATED C3 DEPOSITS AND FACTOR I DEFICIENCY	OMIM	40	pfam00057	119392081,NP_000195
3426	116133	Disease	p.Gly243Asp	217030.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217030	GLOMERULONEPHRITIS WITH ISOLATED C3 DEPOSITS AND FACTOR I DEFICIENCY	OMIM	53	cd00112	119392081,NP_000195
3426	116133	Disease	p.Arg317Trp	217030.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217030	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3	OMIM	No Domain	N/A	119392081,NP_000195
3426	116133	Disease	p.Asp519Asn	217030.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217030	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3	OMIM	479	smart00020	119392081,NP_000195
3426	116133	Disease	p.Asp519Asn	217030.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217030	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3	OMIM	325	cd00190	119392081,NP_000195
3426	116133	Disease	p.Asp519Asn	217030.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217030	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3	OMIM	279	pfam00089	119392081,NP_000195
3183	108935845	Disease	p.Ser189Phe	217000.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217000	C2 DEFICIENCY, TYPE II	OMIM	No Domain	N/A	117189975,NP_112604|117190192,NP_001070910
3183	117190174	Disease	p.Ser189Phe	217000.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217000	C2 DEFICIENCY, TYPE II	OMIM	No Domain	N/A	NULL
3183	108935845	Disease	p.Ser189Phe	217000.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217000	C2 DEFICIENCY, TYPE II	OMIM	No Domain	N/A	117189975,NP_112604|117190192,NP_001070910
3183	117190254	Disease	p.Ser189Phe	217000.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217000	C2 DEFICIENCY, TYPE II	OMIM	No Domain	N/A	NULL
3183	108935845	Disease	p.Gly444Arg	217000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217000	C2 DEFICIENCY, TYPE II	OMIM	No Domain	N/A	117189975,NP_112604|117190192,NP_001070910
3183	117190174	Disease	p.Gly444Arg	217000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217000	C2 DEFICIENCY, TYPE II	OMIM	No Domain	N/A	NULL
3183	108935845	Disease	p.Gly444Arg	217000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217000	C2 DEFICIENCY, TYPE II	OMIM	No Domain	N/A	117189975,NP_112604|117190192,NP_001070910
3183	117190254	Disease	p.Gly444Arg	217000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217000	C2 DEFICIENCY, TYPE II	OMIM	No Domain	N/A	NULL
3183	108935845	Disease	p.Glu318Asp	217000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217000	MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF	OMIM	No Domain	N/A	117189975,NP_112604|117190192,NP_001070910
3183	117190174	Disease	p.Glu318Asp	217000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217000	MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF	OMIM	No Domain	N/A	NULL
3183	108935845	Disease	p.Glu318Asp	217000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217000	MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF	OMIM	No Domain	N/A	117189975,NP_112604|117190192,NP_001070910
3183	117190254	Disease	p.Glu318Asp	217000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=217000	MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF	OMIM	No Domain	N/A	NULL
788	3914023	Disease	p.Gln238Arg	212138.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=212138	CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY	OMIM	35	pfam00153	4557403,NP_000378
2523	120636	Disease	p.Leu164His	211100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=211100	PARA-BOMBAY PHENOTYPE	OMIM	131	pfam01531	4503805,NP_000139
2523	120636	Disease	p.Leu242Arg	211100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=211100	BOMBAY PHENOTYPE	OMIM	213	pfam01531	4503805,NP_000139
582	38257662	Disease	p.Met390Arg	209901.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209901	BARDET-BIEDL SYNDROME 1	OMIM	No Domain	N/A	28395045,NP_078925
582	38257662	Disease	p.Leu518Pro	209901.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209901	BARDET-BIEDL SYNDROME 1	OMIM	No Domain	N/A	28395045,NP_078925
582	38257662	Disease	p.Glu234Lys	209901.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209901	BARDET-BIEDL SYNDROME 7	OMIM	No Domain	N/A	28395045,NP_078925
1589	190570174	Disease	p.Ile172Asn	201910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE	OMIM	231_G	COG2124	NULL
1589	190570174	Disease	p.Ile172Asn	201910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE	OMIM	214	pfam00067	NULL
1589	14550409	Disease	p.Ile172Asn	201910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE	OMIM	199	COG2124	NULL
1589	14550409	Disease	p.Ile172Asn	201910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE	OMIM	169	pfam00067	NULL
1589	190570174	Disease	p.Arg356Trp	201910.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE	OMIM	440	COG2124	NULL
1589	190570174	Disease	p.Arg356Trp	201910.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE	OMIM	441	pfam00067	NULL
1589	14550409	Disease	p.Arg356Trp	201910.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE	OMIM	404	COG2124	NULL
1589	14550409	Disease	p.Arg356Trp	201910.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE	OMIM	404	pfam00067	NULL
1589	190570174	Disease	p.Pro30Leu	201910.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, NONCLASSIC TYPE	OMIM	6	COG2124	NULL
1589	190570174	Disease	p.Pro30Leu	201910.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, NONCLASSIC TYPE	OMIM	3	pfam00067	NULL
1589	14550409	Disease	p.Pro30Leu	201910.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, NONCLASSIC TYPE	OMIM	6	COG2124	NULL
1589	14550409	Disease	p.Pro30Leu	201910.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, NONCLASSIC TYPE	OMIM	3	pfam00067	NULL
1589	190570174	Disease	p.Ser268Thr	201910.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	21-@HYDROXYLASE POLYMORPHISM	OMIM	341	COG2124	NULL
1589	190570174	Disease	p.Ser268Thr	201910.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	21-@HYDROXYLASE POLYMORPHISM	OMIM	338	pfam00067	NULL
1589	14550409	Disease	p.Ser268Thr	201910.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	21-@HYDROXYLASE POLYMORPHISM	OMIM	306	COG2124	NULL
1589	14550409	Disease	p.Ser268Thr	201910.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	21-@HYDROXYLASE POLYMORPHISM	OMIM	302	pfam00067	NULL
1589	190570174	Disease	p.Gly292Ser	201910.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	372	COG2124	NULL
1589	190570174	Disease	p.Gly292Ser	201910.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	363	pfam00067	NULL
1589	14550409	Disease	p.Gly292Ser	201910.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	335	COG2124	NULL
1589	14550409	Disease	p.Gly292Ser	201910.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	332	pfam00067	NULL
1589	190570174	Disease	p.Pro453Ser	201910.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, LATE-ONSET FORM	OMIM	No Domain	N/A	NULL
1589	14550409	Disease	p.Pro453Ser	201910.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, LATE-ONSET FORM	OMIM	537	COG2124	NULL
1589	14550409	Disease	p.Pro453Ser	201910.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, LATE-ONSET FORM	OMIM	529	pfam00067	NULL
1589	190570174	Disease	p.Pro453Ser	201910.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, NONCLASSIC TYPE	OMIM	No Domain	N/A	NULL
1589	14550409	Disease	p.Pro453Ser	201910.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, NONCLASSIC TYPE	OMIM	537	COG2124	NULL
1589	14550409	Disease	p.Pro453Ser	201910.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, NONCLASSIC TYPE	OMIM	529	pfam00067	NULL
1589	190570174	Disease	p.Tyr102Arg	201910.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	21-@HYDROXYLASE POLYMORPHISM	OMIM	149	COG2124	NULL
1589	190570174	Disease	p.Tyr102Arg	201910.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	21-@HYDROXYLASE POLYMORPHISM	OMIM	120	pfam00067	NULL
1589	14550409	Disease	p.Tyr102Arg	201910.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	21-@HYDROXYLASE POLYMORPHISM	OMIM	114	COG2124	NULL
1589	14550409	Disease	p.Tyr102Arg	201910.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	21-@HYDROXYLASE POLYMORPHISM	OMIM	90	pfam00067	NULL
1589	190570174	Disease	p.Ile235Asn	201910.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	303	COG2124	NULL
1589	190570174	Disease	p.Ile235Asn	201910.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	299	pfam00067	NULL
1589	14550409	Disease	p.Ile235Asn	201910.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	265	COG2124	NULL
1589	14550409	Disease	p.Ile235Asn	201910.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	252	pfam00067	NULL
1589	190570174	Disease	p.Val236Glu	201910.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	304	COG2124	NULL
1589	190570174	Disease	p.Val236Glu	201910.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	300	pfam00067	NULL
1589	14550409	Disease	p.Val236Glu	201910.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	266	COG2124	NULL
1589	14550409	Disease	p.Val236Glu	201910.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	253	pfam00067	NULL
1589	190570174	Disease	p.Met238Lys	201910.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	306	COG2124	NULL
1589	190570174	Disease	p.Met238Lys	201910.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	302	pfam00067	NULL
1589	14550409	Disease	p.Met238Lys	201910.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	268	COG2124	NULL
1589	14550409	Disease	p.Met238Lys	201910.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	255	pfam00067	NULL
1589	190570174	Disease	p.Arg339His	201910.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, NONCLASSIC TYPE	OMIM	419	COG2124	NULL
1589	190570174	Disease	p.Arg339His	201910.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, NONCLASSIC TYPE	OMIM	418	pfam00067	NULL
1589	14550409	Disease	p.Arg339His	201910.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, NONCLASSIC TYPE	OMIM	387	COG2124	NULL
1589	14550409	Disease	p.Arg339His	201910.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, NONCLASSIC TYPE	OMIM	387	pfam00067	NULL
1589	190570174	Disease	p.Glu380Asp	201910.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	465	COG2124	NULL
1589	190570174	Disease	p.Glu380Asp	201910.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	466	pfam00067	NULL
1589	14550409	Disease	p.Glu380Asp	201910.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	434	COG2124	NULL
1589	14550409	Disease	p.Glu380Asp	201910.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	435	pfam00067	NULL
1589	190570174	Disease	p.Val237Glu	201910.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	305	COG2124	NULL
1589	190570174	Disease	p.Val237Glu	201910.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	301	pfam00067	NULL
1589	14550409	Disease	p.Val237Glu	201910.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	267	COG2124	NULL
1589	14550409	Disease	p.Val237Glu	201910.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE	OMIM	254	pfam00067	NULL
1589	190570174	Disease	p.Gly424Ser	201910.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	OMIM	538	COG2124	NULL
1589	190570174	Disease	p.Gly424Ser	201910.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	OMIM	532	pfam00067	NULL
1589	14550409	Disease	p.Gly424Ser	201910.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	OMIM	507	COG2124	NULL
1589	14550409	Disease	p.Gly424Ser	201910.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	OMIM	500	pfam00067	NULL
1589	190570174	Disease	p.Arg426His	201910.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE	OMIM	540	COG2124	NULL
1589	190570174	Disease	p.Arg426His	201910.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE	OMIM	534	pfam00067	NULL
1589	14550409	Disease	p.Arg426His	201910.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE	OMIM	509	COG2124	NULL
1589	14550409	Disease	p.Arg426His	201910.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE	OMIM	502	pfam00067	NULL
1589	190570174	Disease	p.Arg408Cys	201910.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE	OMIM	521	COG2124	NULL
1589	190570174	Disease	p.Arg408Cys	201910.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE	OMIM	514	pfam00067	NULL
1589	14550409	Disease	p.Arg408Cys	201910.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE	OMIM	463	COG2124	NULL
1589	14550409	Disease	p.Arg408Cys	201910.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE	OMIM	464	pfam00067	NULL
1589	190570174	Disease	p.Val304Met	201910.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY	OMIM	382_G	COG2124	NULL
1589	190570174	Disease	p.Val304Met	201910.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY	OMIM	382	pfam00067	NULL
1589	14550409	Disease	p.Val304Met	201910.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY	OMIM	347	COG2124	NULL
1589	14550409	Disease	p.Val304Met	201910.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY	OMIM	344	pfam00067	NULL
1589	190570174	Disease	p.Gly375Ser	201910.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY	OMIM	460	COG2124	NULL
1589	190570174	Disease	p.Gly375Ser	201910.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY	OMIM	461	pfam00067	NULL
1589	14550409	Disease	p.Gly375Ser	201910.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY	OMIM	425	COG2124	NULL
1589	14550409	Disease	p.Gly375Ser	201910.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY	OMIM	427	pfam00067	NULL
1589	190570174	Disease	p.Arg356Trp	201910.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	OMIM	440	COG2124	NULL
1589	190570174	Disease	p.Arg356Trp	201910.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	OMIM	441	pfam00067	NULL
1589	14550409	Disease	p.Arg356Trp	201910.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	OMIM	404	COG2124	NULL
1589	14550409	Disease	p.Arg356Trp	201910.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	OMIM	404	pfam00067	NULL
1589	190570174	Disease	p.His62Leu	201910.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	OMIM	49	COG2124	NULL
1589	190570174	Disease	p.His62Leu	201910.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	OMIM	46	pfam00067	NULL
1589	14550409	Disease	p.His62Leu	201910.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	OMIM	49	COG2124	NULL
1589	14550409	Disease	p.His62Leu	201910.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	OMIM	46	pfam00067	NULL
3284	112770	Disease	p.Val248Asn	201810.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	264	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Val248Asn	201810.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	303	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Val248Asn	201810.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	464	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Val248Asn	201810.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	398	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Val248Asn	201810.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	264	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Val248Asn	201810.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	303	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Val248Asn	201810.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	464	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Val248Asn	201810.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	398	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Glu	201810.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	5	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Glu	201810.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	8	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Glu	201810.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	15	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Glu	201810.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	4	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Glu	201810.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	6	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Glu	201810.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	6	pfam02719	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Glu	201810.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	5	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Glu	201810.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	8	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Glu	201810.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	15	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Glu	201810.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	4	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Glu	201810.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	6	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Glu	201810.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	6	pfam02719	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Glu142Lys	201810.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	150	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Glu142Lys	201810.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	149	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Glu142Lys	201810.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	261	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Glu142Lys	201810.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	217	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Glu142Lys	201810.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	215	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Glu142Lys	201810.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	216	pfam02719	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Glu142Lys	201810.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	150	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Glu142Lys	201810.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	149	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Glu142Lys	201810.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	261	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Glu142Lys	201810.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	217	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Glu142Lys	201810.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	215	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Glu142Lys	201810.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	216	pfam02719	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222Thr	201810.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	234	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222Thr	201810.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	237	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222Thr	201810.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	422	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222Thr	201810.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	415	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222Thr	201810.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	363	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222Thr	201810.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	234	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222Thr	201810.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	237	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222Thr	201810.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	422	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222Thr	201810.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	415	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222Thr	201810.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	363	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Thr259Met	201810.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	275	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Thr259Met	201810.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	352	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Thr259Met	201810.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	475	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Thr259Met	201810.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	275	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Thr259Met	201810.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	352	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Thr259Met	201810.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	475	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro341Leu	201810.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	561	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro341Leu	201810.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	OMIM	561	COG0451	4504509,NP_000189|260763931,NP_001159592
7414	4507877	Disease	p.Arg975Trp	193065.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193065	CARDIOMYOPATHY, DILATED, 1W||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15	OMIM	1095	pfam01044	NULL
7414	21903479	Disease	p.Arg975Trp	193065.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193065	CARDIOMYOPATHY, DILATED, 1W||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15	OMIM	1025	pfam01044	7669550,NP_054706
7414	4507877	Disease	p.Leu277Met	193065.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193065	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15	OMIM	278	pfam01044	NULL
7414	21903479	Disease	p.Leu277Met	193065.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193065	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15	OMIM	278	pfam01044	7669550,NP_054706
7431	55977767	Disease	p.Glu151Lys	193060.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193060	CATARACT, PULVERULENT, AUTOSOMAL DOMINANT	OMIM	60	pfam00038	62414289,NP_003371
3454	90110827	Disease	p.Gly57Ser	192340.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192340	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL	OMIM	44	pfam01108	46488932,NP_000620
3454	90110827	Disease	p.Gly17Val	192340.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192340	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL	OMIM	No Domain	N/A	46488932,NP_000620
3454	90110827	Disease	p.Gly62Trp	192340.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192340	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL	OMIM	49	pfam01108	46488932,NP_000620
3454	90110827	Disease	p.Gly65Val	192340.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192340	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL	OMIM	52	pfam01108	46488932,NP_000620
3454	90110827	Disease	p.Gly23Val	192340.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192340	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL	OMIM	No Domain	N/A	46488932,NP_000620
3454	90110827	Disease	p.Gly23Arg	192340.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192340	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL	OMIM	No Domain	N/A	46488932,NP_000620
3454	90110827	Disease	p.Ser56Phe	192340.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192340	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL	OMIM	42	pfam01108	46488932,NP_000620
3454	90110827	Disease	p.Cys61Tyr	192340.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192340	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL	OMIM	48	pfam01108	46488932,NP_000620
3454	90110827	Disease	p.Pro7Leu	192340.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192340	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	46488932,NP_000620
3454	90110827	Disease	p.Cys116Gly	192340.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192340	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL	OMIM	No Domain	N/A	46488932,NP_000620
3454	90110827	Disease	p.Tyr2His	192340.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192340	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL	OMIM	No Domain	N/A	46488932,NP_000620
3454	90110827	Disease	p.Val67Ala	192340.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192340	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL	OMIM	60	pfam01108	46488932,NP_000620
525	215274116	Disease	p.Leu81Pro	192132.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192132	RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS	OMIM	47	COG1156	19913426,NP_001683
525	215274116	Disease	p.Leu81Pro	192132.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192132	RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS	OMIM	51	COG0055	19913426,NP_001683
525	215274116	Disease	p.Leu81Pro	192132.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192132	RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS	OMIM	41	COG1155	19913426,NP_001683
525	215274116	Disease	p.Leu81Pro	192132.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192132	RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS	OMIM	74	COG1157	19913426,NP_001683
525	215274116	Disease	p.Leu81Pro	192132.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192132	RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS	OMIM	68	COG0056	19913426,NP_001683
525	215274116	Disease	p.Leu81Pro	192132.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192132	RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS	OMIM	54	pfam02874	19913426,NP_001683
525	215274116	Disease	p.Gly78Arg	192132.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192132	RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS	OMIM	44	COG1156	19913426,NP_001683
525	215274116	Disease	p.Gly78Arg	192132.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192132	RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS	OMIM	48	COG0055	19913426,NP_001683
525	215274116	Disease	p.Gly78Arg	192132.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192132	RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS	OMIM	38	COG1155	19913426,NP_001683
525	215274116	Disease	p.Gly78Arg	192132.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192132	RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS	OMIM	71	COG1157	19913426,NP_001683
525	215274116	Disease	p.Gly78Arg	192132.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192132	RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS	OMIM	65	COG0056	19913426,NP_001683
525	215274116	Disease	p.Gly78Arg	192132.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192132	RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS	OMIM	51	pfam02874	19913426,NP_001683
7369	137116	Disease	p.Cys148Tyr	191845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	85	cd00053	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys148Tyr	191845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	82	smart00181	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys148Tyr	191845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	89	cd00054	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys148Tyr	191845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	83	smart00179	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys148Tyr	191845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	85	cd00053	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys148Tyr	191845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	82	smart00181	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys148Tyr	191845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	89	cd00054	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys148Tyr	191845.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	83	smart00179	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys217Arg	191845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	No Domain	N/A	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys217Arg	191845.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	No Domain	N/A	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Gly103Cys	191845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	MEDULLARY CYSTIC KIDNEY DISEASE 2	OMIM	48	pfam00008	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Gly103Cys	191845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	MEDULLARY CYSTIC KIDNEY DISEASE 2	OMIM	79	smart00181	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Gly103Cys	191845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	MEDULLARY CYSTIC KIDNEY DISEASE 2	OMIM	82	cd00053	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Gly103Cys	191845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	MEDULLARY CYSTIC KIDNEY DISEASE 2	OMIM	54	pfam07645	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Gly103Cys	191845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	MEDULLARY CYSTIC KIDNEY DISEASE 2	OMIM	80	smart00179	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Gly103Cys	191845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	MEDULLARY CYSTIC KIDNEY DISEASE 2	OMIM	86	cd00054	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Gly103Cys	191845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	MEDULLARY CYSTIC KIDNEY DISEASE 2	OMIM	48	pfam00008	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Gly103Cys	191845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	MEDULLARY CYSTIC KIDNEY DISEASE 2	OMIM	79	smart00181	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Gly103Cys	191845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	MEDULLARY CYSTIC KIDNEY DISEASE 2	OMIM	82	cd00053	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Gly103Cys	191845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	MEDULLARY CYSTIC KIDNEY DISEASE 2	OMIM	54	pfam07645	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Gly103Cys	191845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	MEDULLARY CYSTIC KIDNEY DISEASE 2	OMIM	80	smart00179	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Gly103Cys	191845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	MEDULLARY CYSTIC KIDNEY DISEASE 2	OMIM	86	cd00054	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys77Tyr	191845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	10	pfam00008	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys77Tyr	191845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	17	smart00181	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys77Tyr	191845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	19	cd00053	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys77Tyr	191845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	14	pfam07645	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys77Tyr	191845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	25	smart00179	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys77Tyr	191845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	25	cd00054	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys77Tyr	191845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	10	pfam00008	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys77Tyr	191845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	17	smart00181	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys77Tyr	191845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	19	cd00053	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys77Tyr	191845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	14	pfam07645	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys77Tyr	191845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	25	smart00179	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys77Tyr	191845.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	25	cd00054	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys126Arg	191845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	28	cd00053	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys126Arg	191845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	27	smart00181	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys126Arg	191845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	36	cd00054	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys126Arg	191845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	34	smart00179	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys126Arg	191845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	23	pfam07645	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys126Arg	191845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	28	cd00053	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys126Arg	191845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	27	smart00181	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys126Arg	191845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	36	cd00054	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys126Arg	191845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	34	smart00179	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys126Arg	191845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	23	pfam07645	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Asn128Ser	191845.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	30	cd00053	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Asn128Ser	191845.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	29	smart00181	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Asn128Ser	191845.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	38	cd00054	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Asn128Ser	191845.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	36	smart00179	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Asn128Ser	191845.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	25	pfam07645	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Asn128Ser	191845.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	30	cd00053	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Asn128Ser	191845.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	29	smart00181	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Asn128Ser	191845.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	38	cd00054	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Asn128Ser	191845.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	36	smart00179	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Asn128Ser	191845.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	25	pfam07645	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys255Tyr	191845.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	No Domain	N/A	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys255Tyr	191845.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	No Domain	N/A	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys300Gly	191845.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	No Domain	N/A	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys300Gly	191845.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	No Domain	N/A	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys315Arg	191845.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA	OMIM	No Domain	N/A	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys315Arg	191845.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA	OMIM	No Domain	N/A	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Val273Phe	191845.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	No Domain	N/A	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Val273Phe	191845.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191845	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1	OMIM	No Domain	N/A	56550049,NP_001008390|59850812,NP_003352
5328	254763341	Disease	p.Pro141Leu	191840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191840	ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	89	cd00108	4505863,NP_002649
5328	254763341	Disease	p.Pro141Leu	191840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191840	ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	74	pfam00051	4505863,NP_002649
5328	254763341	Disease	p.Pro141Leu	191840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191840	ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	86	smart00130	4505863,NP_002649
5328	222537759	Disease	p.Pro141Leu	191840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191840	ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
54658	136729	Disease	p.Ser376Phe	191740.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	CRIGLER-NAJJAR SYNDROME, TYPE I	OMIM	364	COG1819	8850236,NP_000454
54658	136729	Disease	p.Ser376Phe	191740.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	CRIGLER-NAJJAR SYNDROME, TYPE I	OMIM	620	cd03784	8850236,NP_000454
54658	136729	Disease	p.Ser376Phe	191740.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	CRIGLER-NAJJAR SYNDROME, TYPE I	OMIM	367	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Gln331Arg	191740.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	CRIGLER-NAJJAR SYNDROME, TYPE II	OMIM	309	COG1819	8850236,NP_000454
54658	136729	Disease	p.Gln331Arg	191740.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	CRIGLER-NAJJAR SYNDROME, TYPE II	OMIM	530	cd03784	8850236,NP_000454
54658	136729	Disease	p.Gln331Arg	191740.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	CRIGLER-NAJJAR SYNDROME, TYPE II	OMIM	312	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Gly309Glu	191740.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	CRIGLER-NAJJAR SYNDROME, TYPE I	OMIM	281	COG1819	8850236,NP_000454
54658	136729	Disease	p.Gly309Glu	191740.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	CRIGLER-NAJJAR SYNDROME, TYPE I	OMIM	480	cd03784	8850236,NP_000454
54658	136729	Disease	p.Gly309Glu	191740.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	CRIGLER-NAJJAR SYNDROME, TYPE I	OMIM	290	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Pro229Gln	191740.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	GILBERT SYNDROME||CRIGLER-NAJJAR SYNDROME, TYPE II	OMIM	212	COG1819	8850236,NP_000454
54658	136729	Disease	p.Pro229Gln	191740.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	GILBERT SYNDROME||CRIGLER-NAJJAR SYNDROME, TYPE II	OMIM	321	cd03784	8850236,NP_000454
54658	136729	Disease	p.Pro229Gln	191740.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	GILBERT SYNDROME||CRIGLER-NAJJAR SYNDROME, TYPE II	OMIM	209	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Gly71Arg	191740.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	GILBERT SYNDROME||HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL	OMIM	47	COG1819	8850236,NP_000454
54658	136729	Disease	p.Gly71Arg	191740.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	GILBERT SYNDROME||HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL	OMIM	75	cd03784	8850236,NP_000454
54658	136729	Disease	p.Gly71Arg	191740.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	GILBERT SYNDROME||HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL	OMIM	46	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Tyr486Asp	191740.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL||CRIGLER-NAJJAR SYNDROME, TYPE II	OMIM	477	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Gln357Arg	191740.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	CRIGLER-NAJJAR SYNDROME, TYPE I	OMIM	344	COG1819	8850236,NP_000454
54658	136729	Disease	p.Gln357Arg	191740.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	CRIGLER-NAJJAR SYNDROME, TYPE I	OMIM	600	cd03784	8850236,NP_000454
54658	136729	Disease	p.Gln357Arg	191740.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	CRIGLER-NAJJAR SYNDROME, TYPE I	OMIM	348	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Leu175Gln	191740.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	CRIGLER-NAJJAR SYNDROME, TYPE II	OMIM	149	COG1819	8850236,NP_000454
54658	136729	Disease	p.Leu175Gln	191740.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	CRIGLER-NAJJAR SYNDROME, TYPE II	OMIM	256	cd03784	8850236,NP_000454
54658	136729	Disease	p.Leu175Gln	191740.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	CRIGLER-NAJJAR SYNDROME, TYPE II	OMIM	154	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Asn400Asp	191740.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	CRIGLER-NAJJAR SYNDROME, TYPE II||GILBERT SYNDROME	OMIM	390	COG1819	8850236,NP_000454
54658	136729	Disease	p.Asn400Asp	191740.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	CRIGLER-NAJJAR SYNDROME, TYPE II||GILBERT SYNDROME	OMIM	649	cd03784	8850236,NP_000454
54658	136729	Disease	p.Asn400Asp	191740.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	CRIGLER-NAJJAR SYNDROME, TYPE II||GILBERT SYNDROME	OMIM	391	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Leu15Arg	191740.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191740	CRIGLER-NAJJAR SYNDROME, TYPE II	OMIM	No Domain	N/A	8850236,NP_000454
7374	6224979	Disease	p.Phe251Ser	191525.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191525	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5	OMIM	375	pfam03167	NULL
7374	6224979	Disease	p.Phe251Ser	191525.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191525	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5	OMIM	222	COG0692	NULL
7374	37999897	Disease	p.Phe251Ser	191525.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191525	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5	OMIM	212	COG0692	19718751,NP_550433
7374	37999897	Disease	p.Phe251Ser	191525.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191525	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5	OMIM	356	pfam03167	19718751,NP_550433
1798	18202943	Disease	p.Tyr170Cys	191350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191350	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij	OMIM	188	cd06852	42794009,NP_001373
1798	18202943	Disease	p.Tyr170Cys	191350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191350	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij	OMIM	182	cd06499	42794009,NP_001373
1798	18202943	Disease	p.Tyr170Cys	191350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191350	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij	OMIM	124	cd06912	42794009,NP_001373
1798	18202943	Disease	p.Tyr170Cys	191350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191350	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij	OMIM	171	cd06853	42794009,NP_001373
1798	18202943	Disease	p.Tyr170Cys	191350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191350	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij	OMIM	122	cd06856	42794009,NP_001373
1798	18202943	Disease	p.Tyr170Cys	191350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191350	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij	OMIM	134	cd06851	42794009,NP_001373
1798	18202943	Disease	p.Tyr170Cys	191350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191350	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij	OMIM	246	pfam00953	42794009,NP_001373
1798	18202943	Disease	p.Tyr170Cys	191350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191350	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij	OMIM	271	COG0472	42794009,NP_001373
1798	18202943	Disease	p.Tyr170Cys	191350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191350	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij	OMIM	238	cd06855	42794009,NP_001373
7345	136681	Disease	p.Ile93Met	191342.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191342	PARKINSON DISEASE 5, AUTOSOMAL DOMINANT	OMIM	119	pfam01088	21361091,NP_004172
7345	136681	Disease	p.Ser18Tyr	191342.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191342	PARKINSON DISEASE 5, RESISTANCE TO	OMIM	19	pfam01088	21361091,NP_004172
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96	cd07834	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd05583	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05045	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	67	cd07861	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd06609	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd08217	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	65	cd07836	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	65	cd07831	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd08223	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd08222	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd08215	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd08528	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd07837	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	83	cd05122	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	67	cd05605	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd08529	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	71	cd06627	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd06612	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd06659	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	88	cd05101	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd06624	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	71	cd06653	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	71	cd06651	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	71	cd06625	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd06629	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd05582	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd06642	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd06613	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd06640	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd06641	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	67	cd07847	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd07845	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	83	cd06648	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	91	cd05098	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	108	cd05105	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05148	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	71	cd06652	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd07863	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd08224	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd05108	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd05110	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd05103	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd05102	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd05054	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd05109	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd05111	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd06644	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd06643	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd05088	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	299	smart00221	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd07860	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd05035	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	67	cd05075	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd05074	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	221	smart00219	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102	pfam07714	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103	pfam00069	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	367	COG0515	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd05612	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd06605	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05089	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd05581	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	67	cd08530	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd06608	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd06621	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	67	cd06617	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd08218	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd08229	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd08225	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	65	cd08219	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	86	cd06623	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	81	cd07841	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd06610	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd06615	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	71	cd07862	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd06622	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd08228	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	116	cd05580	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	108	cd05055	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd07866	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd07864	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	82	cd06638	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd05100	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd05099	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd07835	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd07830	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	202	smart00220	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	83	cd06647	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	82	cd06607	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	83	cd05076	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	83	cd05037	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	118	cd00192	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	63	cd05116	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd05060	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	65	cd05042	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	61	cd05041	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd05040	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	108	cd05107	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106	cd05104	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	110	cd05106	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd05061	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd05034	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd05083	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd05082	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd05072	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd05069	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd05068	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd05070	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05039	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd05073	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd05067	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd07865	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103	cd05056	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd05062	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd05032	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd05036	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd05052	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd07852	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd05071	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	67	cd05578	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd05078	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd07838	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd07843	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	88	cd07833	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd07829	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd05118	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	62	cd05086	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	62	cd05087	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	60	cd05084	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	161	cd07842	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	71	cd05077	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93	cd07840	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	62	cd05115	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	71	cd06611	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd05094	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd05093	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd05091	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd05090	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd05048	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd07844	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd07871	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd07870	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	86	cd05096	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	135	cd05046	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd05049	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd05092	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	108	cd05051	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	89	cd05095	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd05050	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	86	cd05097	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd05064	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd05063	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd06645	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd06646	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	125	cd05057	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd06620	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd05577	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	64_G	cd05570	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	179	cd00180	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd05044	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd08221	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	60	cd05085	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	62	cd05579	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109	cd05572	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd05123	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd07832	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	63	cd05047	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05058	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	63	cd05619	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd05053	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd05113	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd05114	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd05112	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd05059	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05081	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05065	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd05038	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96	cd05033	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd05079	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05066	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd06616	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90	cd05043	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd05080	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd08220	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd06917	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd06630	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd07846	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd06631	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd07839	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	131	cd06606	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd06628	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd06632	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd06626	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	82	cd06634	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	81	cd06618	NULL
4914	59889558	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd06614	NULL
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	61	cd05578	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	62	cd05071	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd07852	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05062	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd05032	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05036	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05061	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	62	cd05034	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	60	cd05083	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	60	cd05082	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	62	cd05072	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	62	cd05069	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	62	cd05068	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	62	cd05070	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	64	cd05039	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	62	cd05073	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	62	cd05067	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97	cd05056	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	63	cd05052	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd07865	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	192	smart00220	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd06659	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	82	cd05101	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	63	cd06642	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	63	cd06613	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	63	cd06640	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	63	cd06641	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	61	cd07847	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	67	cd07845	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd05076	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	65	cd06653	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd06629	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	65	cd06651	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	65	cd06625	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	59	cd05582	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd06624	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	64	cd06620	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	67	cd06645	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	67	cd06646	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd05057	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd05096	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	129	cd05046	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd05049	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd05092	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102	cd05051	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	83	cd05095	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd05050	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd05097	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd05094	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd05093	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd05091	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd05090	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05048	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	67	cd05064	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd05063	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	64	cd07844	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	64	cd07871	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	64	cd07870	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	64	cd05058	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	67	cd07832	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	57	cd05047	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	60	cd05044	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	60	cd08221	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	54	cd05085	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	57	cd05619	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	57	cd05577	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	56	cd05579	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103	cd05572	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd05123	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	59	cd05570	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	173	cd00180	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	63	cd06643	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05108	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05110	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd06644	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05109	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05111	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd05088	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05103	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05102	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05054	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd07835	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94	cd07830	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	89	cd06614	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd05053	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	60	cd05113	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	60	cd05114	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	60	cd05112	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	60	cd05059	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	67	cd05080	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	71	cd06616	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd05081	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd05065	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	71	cd05038	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90	cd05033	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	67	cd05079	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd05066	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	84	cd05043	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102	cd05105	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd05037	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	112	cd00192	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	57	cd05116	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	62	cd05060	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	59	cd05042	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	55	cd05041	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	60	cd05040	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd06647	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd06648	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd05098	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	63	cd08228	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	60	cd06615	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	65	cd07862	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	60	cd06622	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	62	cd06610	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	61	cd06617	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	60	cd08218	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	63	cd08229	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	60	cd08225	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	59	cd08219	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	110	cd05580	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	62	cd06605	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	64	cd05089	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	361	COG0515	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	62	cd05612	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd06623	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	63	cd06621	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd07841	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	113	cd05581	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	61	cd08530	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	89	cd06608	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd06917	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	64	cd06630	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	63	cd06626	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	62	cd08220	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd06632	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd06628	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	62	cd07846	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	63	cd06631	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	60	cd07839	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	125	cd06606	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	65	cd06611	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	60	cd05078	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	65	cd05077	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	56	cd05115	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	87	cd07840	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	56	cd05086	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	56	cd05087	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	54	cd05084	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	155	cd07842	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	68	cd07838	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd07843	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	82	cd07833	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd07829	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	63	cd05118	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102	cd05107	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102	cd05055	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	67	cd07864	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd07866	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd06638	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd05100	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd05099	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	62	cd07837	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	60	cd08223	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	64	cd08222	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd08215	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd08528	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	61	cd05605	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90	cd07834	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd05583	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	64	cd08529	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	65	cd06627	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	71	cd06612	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd05122	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	61	cd07861	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd06609	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	60	cd08217	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	59	cd07836	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	59	cd07831	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	64	cd05045	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05035	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	61	cd05075	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	62	cd05074	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	293	smart00221	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	60	cd07860	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	215	smart00219	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96	pfam07714	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93	pfam00069	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd06634	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	71	cd06618	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	64	cd08224	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	64	cd05148	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	65	cd06652	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd07863	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd06607	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104	cd05106	4585712,NP_002520
4914	94730402	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd05104	4585712,NP_002520
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90_G	cd07847	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95_G	cd06640	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93_G	cd06641	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd06642	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105	cd07845	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93_G	cd06613	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	150	cd05107	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	146	cd05105	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	132	cd06614	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd05080	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd06616	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	126	cd05043	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115	cd05053	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96	cd05113	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05114	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05112	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93_G	cd05059	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102	cd05081	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97_G	cd05065	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115	cd05038	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	123_G	cd05033	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd05079	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd05066	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd06607	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd05109	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd05111	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105	cd05108	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105	cd05110	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106	cd05088	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	117	cd05103	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd05102	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	148	cd05054	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90	cd06643	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97	cd06644	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd06634	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109_G	cd06618	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	337	smart00220	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106_G	cd06648	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	121	cd05098	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd05148	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd06652	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd08224	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100_G	cd07863	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106_G	cd06647	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105_G	cd06624	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	136	cd05055	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105	cd06628	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115_G	cd06632	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	89_G	cd06626	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	91_G	cd07846	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd06631	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	91_G	cd07839	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	170_G	cd06606	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd08220	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd06917	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd06630	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	116	cd05096	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	168	cd05046	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd05049	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104	cd05092	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	139	cd05051	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd05095	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105	cd05050	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	116	cd05097	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104	cd05094	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104	cd05093	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97_G	cd07844	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97_G	cd07871	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96_G	cd07870	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98_G	cd06645	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103	cd06646	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd05064	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104	cd05063	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd06620	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105	cd05091	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106	cd05090	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106	cd05048	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	152_G	cd05057	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	137	cd07830	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	108	cd07835	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	92	cd05044	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95_G	cd08221	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90	cd05085	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93	cd05577	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05579	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	141	cd05572	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	194	cd05123	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93_G	cd05570	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104_G	cd07832	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94	cd05619	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103	cd05058	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94	cd05047	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	304	cd00180	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	111_G	cd05076	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106	cd05062	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	139	cd05032	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106	cd05036	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	116_G	cd07865	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106	cd05061	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97	cd05052	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90_G	cd05578	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96_G	cd05034	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd05083	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95_G	cd05082	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95_G	cd05072	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd05069	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd05068	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93_G	cd05070	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd05039	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95_G	cd05073	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05067	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd05071	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd07852	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	132	cd05056	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	291	smart00219	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	151	pfam07714	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	160	pfam00069	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	400	smart00221	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90	cd07860	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107_G	cd05035	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104	cd05075	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97_G	cd05074	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109_G	cd07864	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	113_G	cd06638	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115	cd05100	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115	cd05099	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	132	cd07866	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd08223	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd08222	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	131	cd08215	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	113	cd08528	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100_G	cd08529	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd06627	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	108	cd06612	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	135_G	cd07834	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99_G	cd05583	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96	cd07861	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	113_G	cd06609	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109	cd07837	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	92_G	cd05605	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97	cd05045	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	121_G	cd05122	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd08217	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	92_G	cd07836	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd07831	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90	cd05086	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	92	cd05087	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90	cd05084	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	192	cd07842	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	117_G	cd07838	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104_G	cd07843	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99_G	cd05077	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	92	cd06611	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	91	cd05115	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107_G	cd07833	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	130	cd07829	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd05118	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	139	cd07840	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96	cd05078	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd06653	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103	cd06625	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106_G	cd06629	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd06651	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90_G	cd05582	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd06617	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93_G	cd08218	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd08229	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95_G	cd08225	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93	cd08219	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	120	cd06623	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97_G	cd06605	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd05089	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	149	cd05581	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	452	COG0515	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd05612	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	108	cd07841	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	147_G	cd05580	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96_G	cd06621	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99	cd08228	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99	cd08530	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	139	cd06608	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd06615	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99_G	cd07862	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96	cd06622	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd06610	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	108_G	cd06659	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd05101	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	148	cd05104	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	189	cd05106	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94	cd05042	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	89	cd05041	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd05040	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	89_G	cd05116	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd05060	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109_G	cd05037	NULL
4914	56118210	Disease	p.Gly571Arg	191315.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	159	cd00192	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	469	cd07834	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	271	cd05583	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	282	cd05045	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	281	cd07861	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	301	cd06609	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	328	cd08217	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	294	cd07836	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	299	cd07831	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	254	cd08223	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	258	cd08222	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	335	cd08215	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	276	cd08528	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	301	cd07837	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	285	cd05605	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	271	cd06659	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	295	cd05101	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	270	cd06624	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	265	cd06653	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	261	cd06651	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	263	cd06625	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	264	cd05582	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	255	cd06642	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	253	cd06640	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	253	cd06641	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	301	cd07847	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	285	smart00750	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	273	cd06648	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	298	cd05098	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	396	cd05105	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	292	cd05148	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	285	cd06652	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	279	cd07863	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	266	cd08224	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	264	cd05108	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	264	cd05110	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	336	cd05103	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	334	cd05102	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	385	cd05054	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	264	cd05109	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	264	cd05111	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	278	cd06644	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	276	cd06643	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	276	cd05088	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	1071	smart00221	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	272	cd07860	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	279	cd05035	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	282	cd05075	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	268	cd05074	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	703	smart00219	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	484	pfam07714	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	471	pfam00069	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	1196	COG0515	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	265	cd05612	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	329	cd06605	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	271	cd05089	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	536	cd05581	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	263	cd08530	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	309	cd06608	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	287	cd06617	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	253	cd08218	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	264	cd08229	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	254	cd08225	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	252	cd08219	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	345	cd07841	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	302	cd06615	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	270	cd07862	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	283	cd06622	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	261	cd08228	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	339	cd05580	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	395	cd05055	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	294	cd07864	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	285	cd06638	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	293	cd05100	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	289	cd05099	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	304	cd07835	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	394	cd07830	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	1231	smart00220	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	271	cd06647	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	291	cd06607	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	273	cd05076	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	293	cd05037	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	522	cd00192	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	251	cd05116	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	258	cd05060	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	270	cd05042	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	251	cd05041	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	268	cd05040	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	398	cd05107	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	380	cd05104	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	378	cd05106	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	275	cd05061	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	269	cd05034	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	250	cd05083	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	252	cd05082	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	257	cd05072	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	256	cd05069	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	262	cd05068	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	256	cd05070	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	263	cd05039	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	257	cd05073	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	282	cd05067	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	342	cd07865	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	293	cd05056	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	274	cd05062	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	323	cd05032	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	277	cd05036	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	258	cd05052	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	326	cd07852	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	256	cd05071	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	283	cd05578	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	343	cd07838	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	296	cd07843	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	370	cd07833	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	364	cd07829	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	310	cd05118	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	266	cd05086	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	271	cd05087	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	249	cd05084	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	260	cd05077	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	376	cd07840	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	251	cd05115	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	277	cd06611	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	338	cd05094	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	275	cd05093	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	279	cd05091	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	279	cd05090	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	282	cd05048	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	285	cd07844	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	276	cd07871	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	283	cd07870	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	330	cd05096	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	342	cd05046	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	297	cd05049	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	285	cd05092	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	349	cd05051	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	305	cd05095	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	288	cd05050	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	294	cd05097	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	262	cd05064	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	264	cd05063	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	265	cd06645	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	265	cd06646	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	318	cd05057	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	325	cd06620	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	272	cd05577	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	275	cd05570	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	870	cd00180	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	272	cd05044	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	266	cd08221	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	248	cd05085	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	313	cd07832	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	264	cd05047	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	262	cd05058	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	258	cd05619	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	310	cd05053	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	255	cd05113	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	254	cd05114	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	254	cd05112	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	256	cd05059	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	279	cd05081	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	264	cd05065	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	325	cd05038	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	298	cd05033	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	279	cd05079	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	262	cd05066	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	281	cd06616	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	307	cd05043	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	277	cd05080	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	261_G	cd08220	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	290	cd06917	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	267	cd06630	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	306	cd07846	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	266	cd06631	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	285	cd07839	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	429	cd06606	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	269	cd06628	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	287	cd06634	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	311	cd06618	NULL
4914	59889558	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	310	cd06614	NULL
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	274	cd05578	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	250	cd05071	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	309	cd07852	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	268	cd05062	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	317	cd05032	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	271	cd05036	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	269	cd05061	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	263	cd05034	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	244	cd05083	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	246	cd05082	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	251	cd05072	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	250	cd05069	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	256	cd05068	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	250	cd05070	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	254	cd05039	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	251	cd05073	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	276	cd05067	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	287	cd05056	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	252	cd05052	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	322	cd07865	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	1215	smart00220	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	265	cd06659	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	286	cd05101	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	247	cd06642	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	259	cd06613	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	247	cd06640	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	247	cd06641	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	295	cd07847	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	267	cd05076	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	259	cd06653	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	273	cd06629	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	255	cd06651	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	257	cd06625	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	248	cd05582	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	264	cd06624	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	318	cd06620	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	259	cd06645	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	259	cd06646	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	312	cd05057	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	324	cd05096	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	336	cd05046	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	284	cd05049	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	271	cd05092	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	343	cd05051	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	299	cd05095	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	282	cd05050	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	288	cd05097	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	332	cd05094	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	269	cd05093	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	273	cd05091	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	273	cd05090	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	276	cd05048	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	256	cd05064	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	258	cd05063	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	264	cd07844	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	255	cd07871	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	277	cd07870	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	256	cd05058	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	305	cd07832	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	258	cd05047	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	266	cd05044	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	260	cd08221	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	242	cd05085	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	241	cd05619	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	256	cd05577	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	815	cd05579	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	333	cd05572	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	915	cd05123	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	259	cd05570	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	854	cd00180	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	256	cd06643	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	258	cd05108	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	258	cd05110	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	272	cd06644	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	258	cd05109	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	258	cd05111	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	270	cd05088	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	330	cd05103	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	328	cd05102	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	379	cd05054	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	293	cd07835	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	387	cd07830	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	302	cd06614	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	304	cd05053	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	249	cd05113	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	248	cd05114	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	248	cd05112	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	250	cd05059	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	271	cd05080	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	273	cd06616	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	273	cd05081	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	258	cd05065	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	319	cd05038	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	292	cd05033	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	273	cd05079	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	256	cd05066	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	301	cd05043	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	390	cd05105	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	287	cd05037	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	513	cd00192	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	245	cd05116	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	252	cd05060	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	264	cd05042	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	245	cd05041	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	262	cd05040	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	263	cd06647	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	265	cd06648	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	289	cd05098	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	255	cd08228	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	296	cd06615	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	255	cd07862	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	275	cd06622	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	291	cd06610	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	281	cd06617	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	247	cd08218	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	255	cd08229	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	248	cd08225	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	246	cd08219	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	314	cd05580	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	321	cd06605	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	265	cd05089	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	1176	COG0515	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	249	cd05612	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	341	cd06623	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	328	cd07841	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	521	cd05581	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	255	cd08530	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	301	cd06608	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	284	cd06917	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	259	cd06630	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	303	cd06626	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	256	cd08220	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	274	cd06632	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	263	cd06628	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	298	cd07846	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	258	cd06631	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	277	cd07839	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	421	cd06606	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	267	cd06611	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	256	cd05078	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	254	cd05077	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	245	cd05115	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	368	cd07840	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	260	cd05086	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	265	cd05087	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	243	cd05084	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	433	cd07842	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	300	cd07838	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	286	cd07843	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	362	cd07833	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	356	cd07829	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	302	cd05118	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	279	smart00750	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	392	cd05107	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	389	cd05055	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	273	cd07864	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	277	cd06638	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	284	cd05100	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	283	cd05099	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	293	cd07837	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	248	cd08223	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	252	cd08222	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	329	cd08215	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	270	cd08528	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	250	cd05605	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	452	cd07834	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	258	cd05583	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	345	cd05122	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	253	cd07861	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	295	cd06609	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	320	cd08217	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	286	cd07836	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	291	cd07831	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	276	cd05045	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	273	cd05035	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	276	cd05075	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	262	cd05074	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	1065	smart00221	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	266	cd07860	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	693	smart00219	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	475	pfam07714	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	465	pfam00069	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	281	cd06634	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	291	cd06618	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	257	cd08224	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	286	cd05148	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	279	cd06652	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	267	cd07863	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	285	cd06607	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	372	cd05106	4585712,NP_002520
4914	94730402	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	374	cd05104	4585712,NP_002520
4914	56118210	Disease	p.Arg774Pro	191315.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	No Domain	N/A	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	135_G	cd07834	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99_G	cd05583	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103	cd05045	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd07861	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	113_G	cd06609	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd08217	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	92_G	cd07836	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104_G	cd07831	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100_G	cd08223	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105_G	cd08222	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	136_G	cd08215	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd08528	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	110_G	cd07837	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	121_G	cd05122	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97	cd05605	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100_G	cd08529	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd06627	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	113_G	cd06612	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	108_G	cd06659	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	125	cd05101	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105_G	cd06624	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103	cd06653	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103	cd06651	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109	cd06625	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd06629	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96	cd05582	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd06642	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93_G	cd06613	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95_G	cd06640	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93_G	cd06641	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90_G	cd07847	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	111	cd07845	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106_G	cd06648	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	127	cd05098	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	222	cd05105	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd05148	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	113	cd06652	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100_G	cd07863	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104_G	cd08224	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105_G	cd05108	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105_G	cd05110	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	123	cd05103	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	155	cd05102	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	213	cd05054	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd05109	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd05111	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd06644	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95_G	cd06643	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	112	cd05088	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	406	smart00221	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96	cd07860	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	111	cd05035	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	111	cd05075	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd05074	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	358	smart00219	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	241	pfam07714	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	165	pfam00069	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	458	COG0515	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd05612	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97_G	cd06605	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd05089	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	155	cd05581	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104_G	cd08530	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	141_G	cd06608	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd06621	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd06617	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd08218	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104	cd08229	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd08225	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98_G	cd08219	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	125_G	cd06623	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	113_G	cd07841	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104	cd06610	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98_G	cd06615	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99_G	cd07862	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102	cd06622	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105	cd08228	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	147_G	cd05580	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	142	cd05055	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	136_G	cd07866	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115	cd07864	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	117	cd06638	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	121	cd05100	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	122	cd05099	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	114	cd07835	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	143	cd07830	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	343	smart00220	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106_G	cd06647	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105_G	cd06607	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	111_G	cd05076	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109_G	cd05037	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	295	cd00192	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	89_G	cd05116	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102_G	cd05060	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd05042	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05041	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102_G	cd05040	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	157	cd05107	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	157	cd05104	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	195	cd05106	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	112	cd05061	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96_G	cd05034	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100_G	cd05083	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd05082	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97	cd05072	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100_G	cd05069	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd05068	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93_G	cd05070	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102_G	cd05039	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96	cd05073	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd05067	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	116_G	cd07865	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	132_G	cd05056	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	108_G	cd05062	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	152	cd05032	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	110_G	cd05036	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd05052	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106_G	cd07852	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100_G	cd05071	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94	cd05578	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102	cd05078	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	117_G	cd07838	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104_G	cd07843	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109_G	cd07833	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	132_G	cd07829	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104_G	cd05118	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96	cd05086	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97_G	cd05087	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05084	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	194_G	cd07842	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99_G	cd05077	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	143_G	cd07840	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	91_G	cd05115	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd06611	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	110	cd05094	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	110	cd05093	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	111	cd05091	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	112	cd05090	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	112	cd05048	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102	cd07844	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd07871	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96_G	cd07870	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	122	cd05096	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	174	cd05046	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115	cd05049	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	110	cd05092	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	149	cd05051	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	129	cd05095	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	111	cd05050	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	122	cd05097	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd05064	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	108_G	cd05063	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98_G	cd06645	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106_G	cd06646	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	153	cd05057	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd06620	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98_G	cd05577	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96_G	cd05570	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	310	cd00180	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd05044	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100_G	cd08221	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05085	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05579	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	147	cd05572	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	200	cd05123	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104_G	cd07832	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd05047	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109	cd05058	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05619	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	121	cd05053	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97_G	cd05113	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05114	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05112	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93_G	cd05059	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107_G	cd05081	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97_G	cd05065	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	118_G	cd05038	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	123_G	cd05033	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105_G	cd05079	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104_G	cd05066	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	112_G	cd06616	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	130	cd05043	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd05080	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105_G	cd08220	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	113	cd06917	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd06630	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	91_G	cd07846	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105_G	cd06631	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94	cd07839	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	170_G	cd06606	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109_G	cd06628	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115_G	cd06632	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd06626	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105_G	cd06634	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115	cd06618	NULL
4914	59889558	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	138	cd06614	NULL
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90_G	cd05578	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd05071	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd07852	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106	cd05062	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	139	cd05032	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106	cd05036	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106	cd05061	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96_G	cd05034	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd05083	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95_G	cd05082	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95_G	cd05072	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd05069	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd05068	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93_G	cd05070	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd05039	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95_G	cd05073	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05067	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	132	cd05056	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97	cd05052	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	116_G	cd07865	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	337	smart00220	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	108_G	cd06659	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd05101	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd06642	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93_G	cd06613	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95_G	cd06640	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93_G	cd06641	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90_G	cd07847	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105	cd07845	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	111_G	cd05076	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd06653	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106_G	cd06629	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd06651	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103	cd06625	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90_G	cd05582	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105_G	cd06624	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd06620	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98_G	cd06645	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103	cd06646	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	152_G	cd05057	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	116	cd05096	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	168	cd05046	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd05049	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104	cd05092	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	139	cd05051	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd05095	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105	cd05050	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	116	cd05097	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104	cd05094	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104	cd05093	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105	cd05091	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106	cd05090	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106	cd05048	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd05064	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104	cd05063	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97_G	cd07844	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97_G	cd07871	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96_G	cd07870	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103	cd05058	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104_G	cd07832	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94	cd05047	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	92	cd05044	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95_G	cd08221	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90	cd05085	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94	cd05619	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93	cd05577	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05579	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	141	cd05572	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	194	cd05123	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93_G	cd05570	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	304	cd00180	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90	cd06643	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105	cd05108	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105	cd05110	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97	cd06644	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd05109	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd05111	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106	cd05088	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	117	cd05103	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd05102	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	148	cd05054	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	108	cd07835	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	137	cd07830	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	132	cd06614	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115	cd05053	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96	cd05113	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05114	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05112	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93_G	cd05059	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd05080	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd06616	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102	cd05081	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97_G	cd05065	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115	cd05038	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	123_G	cd05033	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd05079	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd05066	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	126	cd05043	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	146	cd05105	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109_G	cd05037	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	159	cd00192	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	89_G	cd05116	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd05060	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94	cd05042	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	89	cd05041	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd05040	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106_G	cd06647	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106_G	cd06648	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	121	cd05098	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99	cd08228	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd06615	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99_G	cd07862	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96	cd06622	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd06610	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd06617	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93_G	cd08218	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd08229	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95_G	cd08225	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93	cd08219	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	147_G	cd05580	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97_G	cd06605	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd05089	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	452	COG0515	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd05612	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	120	cd06623	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96_G	cd06621	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	108	cd07841	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	149	cd05581	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99	cd08530	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	139	cd06608	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd06917	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd06630	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	89_G	cd06626	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd08220	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115_G	cd06632	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105	cd06628	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	91_G	cd07846	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd06631	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	91_G	cd07839	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	170_G	cd06606	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	92	cd06611	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96	cd05078	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99_G	cd05077	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	91	cd05115	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	139	cd07840	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90	cd05086	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	92	cd05087	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90	cd05084	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	192	cd07842	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	117_G	cd07838	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104_G	cd07843	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107_G	cd07833	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	130	cd07829	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd05118	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	150	cd05107	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	136	cd05055	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109_G	cd07864	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	132	cd07866	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	113_G	cd06638	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115	cd05100	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115	cd05099	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109	cd07837	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd08223	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd08222	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	131	cd08215	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	113	cd08528	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	92_G	cd05605	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	135_G	cd07834	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99_G	cd05583	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100_G	cd08529	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd06627	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	108	cd06612	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	121_G	cd05122	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96	cd07861	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	113_G	cd06609	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd08217	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	92_G	cd07836	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd07831	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97	cd05045	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107_G	cd05035	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104	cd05075	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97_G	cd05074	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	400	smart00221	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90	cd07860	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	291	smart00219	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	151	pfam07714	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	160	pfam00069	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd06634	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109_G	cd06618	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd08224	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd05148	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd06652	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100_G	cd07863	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd06607	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	189	cd05106	4585712,NP_002520
4914	94730402	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	148	cd05104	4585712,NP_002520
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	118	cd07847	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd06640	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd06641	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd06642	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	139	cd07845	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	121	cd06613	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	260	cd05107	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	258	cd05105	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	168	cd06614	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	125	cd05080	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	133	cd06616	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	160	cd05043	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	168	cd05053	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd05113	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	118	cd05114	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	118	cd05112	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	120	cd05059	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	126	cd05081	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	124	cd05065	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	146	cd05038	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	151	cd05033	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	127	cd05079	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	124	cd05066	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	133	cd06607	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	127	cd05109	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	127	cd05111	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	127	cd05108	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	127	cd05110	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	142	cd05088	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	198	cd05103	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	196	cd05102	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	246	cd05054	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	121	cd06643	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	128	cd06644	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	133	cd06634	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	136	cd06618	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	386	smart00220	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	134	cd06648	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	158	cd05098	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	123	cd05148	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	148	cd06652	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	125	cd08224	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	129	cd07863	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	133	cd06647	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	131	cd06624	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	257	cd05055	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	126	cd06628	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	137	cd06632	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	120	cd06626	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd07846	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	122	cd06631	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	117	cd07839	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	198	cd06606	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	128	cd08220	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	128	cd06917	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	121	cd06630	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	174	cd05096	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	204	cd05046	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	145	cd05049	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	140	cd05092	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	179	cd05051	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	159	cd05095	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	151	cd05050	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	149	cd05097	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	141	cd05094	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	138	cd05093	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	122	cd07844	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	121	cd07871	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	121	cd07870	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	124	cd06645	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	124	cd06646	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	125	cd05064	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	126	cd05063	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	124	cd06620	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	142	cd05091	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	142	cd05090	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	145	cd05048	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	179	cd05057	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	35	smart00750	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	170	cd07830	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	144	cd07835	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	128	cd05044	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	120	cd08221	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	112	cd05085	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	118	cd05577	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	114	cd05579	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	185	cd05572	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	633	cd05123	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	116	cd05570	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	133	cd07832	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	114	cd05619	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	123	cd05058	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	130	cd05047	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	348	cd00180	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	135	cd05076	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	137	cd05062	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	182	cd05032	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	136	cd05036	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	142	cd07865	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	138	cd05061	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	122	cd05052	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd05578	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	121	cd05034	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	118	cd05083	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	120	cd05082	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	121	cd05072	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	120	cd05069	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	123	cd05068	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	120	cd05070	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	124	cd05039	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	121	cd05073	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	120	cd05067	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	120	cd05071	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	127	cd07852	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	154	cd05056	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	402	smart00219	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	272	pfam07714	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	198	pfam00069	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	479	smart00221	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	118	cd07860	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	141	cd05035	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	145	cd05075	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	131	cd05074	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	136	cd07864	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	142	cd06638	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	152	cd05100	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	152	cd05099	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	149	cd07866	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	120	cd08223	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	125	cd08222	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	156	cd08215	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	140	cd08528	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	124	cd08529	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	125	cd06627	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	133	cd06612	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	161	cd07834	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	123	cd05583	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	120	cd07861	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	141	cd06609	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	136	cd07837	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	120	cd05605	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	145	cd05045	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	151	cd05122	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	150	cd08217	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	121	cd07836	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd07831	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	118	cd05086	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	123	cd05087	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	112	cd05084	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	222	cd07842	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	138	cd07838	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	136	cd07843	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	123	cd05077	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	123	cd06611	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	113	cd05115	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	140	cd07833	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	158	cd07829	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	127	cd05118	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	167	cd07840	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	120	cd05078	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	124	cd06653	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	124	cd06625	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	128	cd06629	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	124	cd06651	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	116	cd05582	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	123	cd06617	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd08218	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	124	cd08229	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd08225	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	118	cd08219	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	153	cd06623	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	135	cd06605	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	137	cd05089	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	234	cd05581	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	518	COG0515	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd05612	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	135	cd07841	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	171	cd05580	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	128	cd06621	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	124	cd08228	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	124	cd08530	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	161	cd06608	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd06615	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	128	cd07862	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	132	cd06622	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	130	cd06610	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	135	cd06659	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	155	cd05101	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	242	cd05104	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	240	cd05106	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	121	cd05042	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	114	cd05041	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	122	cd05040	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	113	cd05116	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	120	cd05060	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	137	cd05037	NULL
4914	56118210	Disease	p.Gly607Val	191315.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	325	cd00192	NULL
4914	59889558	Disease	p.Arg85Ser	191315.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	No Domain	N/A	NULL
4914	94730402	Disease	p.Arg85Ser	191315.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	No Domain	N/A	4585712,NP_002520
4914	56118210	Disease	p.Arg85Ser	191315.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	No Domain	N/A	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	255	cd07834	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	175	cd05583	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	197	cd05045	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	170	cd07861	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	197	cd06609	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	239	cd08217	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	171	cd07836	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	174	cd07831	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	170	cd08223	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	174	cd08222	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	236	cd08215	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	191	cd08528	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	187	cd07837	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	208	cd05122	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	169	cd05605	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	174	cd08529	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	211	cd06627	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	184	cd06612	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	185	cd06659	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	207	cd05101	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	182	cd06624	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	177	cd06653	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	177	cd06651	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	177	cd06625	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	181	cd06629	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	166	cd05582	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	169	cd06642	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	171	cd06613	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	169	cd06640	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	169	cd06641	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	175	cd07847	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	191	cd07845	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115	smart00750	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	184	cd06648	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	210	cd05098	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	310	cd05105	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	174	cd05148	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	201	cd06652	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	178	cd07863	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	175	cd08224	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	179	cd05108	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	179	cd05110	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	250	cd05103	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	248	cd05102	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	299	cd05054	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	179	cd05109	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	179	cd05111	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	178	cd06644	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	171	cd06643	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	191	cd05088	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	771	smart00221	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	168	cd07860	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	193	cd05035	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	197	cd05075	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	183	cd05074	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	555	smart00219	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	353	pfam07714	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	297	pfam00069	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	805	COG0515	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	166	cd05612	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	187	cd06605	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	186	cd05089	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	405	cd05581	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	176	cd08530	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	211	cd06608	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	177	cd06621	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	172	cd06617	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	169	cd08218	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	174	cd08229	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	170	cd08225	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	168	cd08219	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	222	cd06623	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	205	cd07841	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	190	cd06610	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	168	cd06615	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	178	cd07862	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	188	cd06622	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	174	cd08228	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	229	cd05580	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	309	cd05055	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	217	cd07866	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	188	cd07864	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	192	cd06638	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	204	cd05100	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	204	cd05099	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	195	cd07835	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	243_G	cd07830	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	708	smart00220	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	183	cd06647	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	179	cd06607	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	188	cd05076	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	193	cd05037	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	399	cd00192	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	166	cd05116	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	173	cd05060	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	174	cd05042	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	166	cd05041	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	181	cd05040	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	312	cd05107	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	294	cd05104	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	292	cd05106	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	190	cd05061	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	182	cd05034	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	165	cd05083	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	167	cd05082	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	172	cd05072	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	171	cd05069	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	177	cd05068	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	171	cd05070	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	174	cd05039	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	172	cd05073	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	171	cd05067	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	198	cd07865	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	207	cd05056	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	189	cd05062	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	234	cd05032	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	192	cd05036	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	173	cd05052	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	196	cd07852	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	171	cd05071	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	174	cd05578	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	174	cd05078	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	217	cd07838	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	189	cd07843	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	216_G	cd07833	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	212	cd07829	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	180	cd05118	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	170	cd05086	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	175	cd05087	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	164	cd05084	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	283	cd07842	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	176	cd05077	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	270_G	cd07840	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	166	cd05115	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	173	cd06611	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	200	cd05094	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	190	cd05093	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	194	cd05091	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	194	cd05090	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	197	cd05048	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	172	cd07844	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	171	cd07871	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	171	cd07870	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	237	cd05096	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	255	cd05046	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	202	cd05049	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	192	cd05092	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	240	cd05051	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	211	cd05095	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	203	cd05050	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	201	cd05097	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	177	cd05064	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	179	cd05063	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	174	cd06645	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	174	cd06646	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	233	cd05057	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	172	cd06620	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	168	cd05577	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	166	cd05570	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	628	cd00180	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	187	cd05044	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	172	cd08221	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	163	cd05085	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	711	cd05579	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	239	cd05572	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	737	cd05123	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	190	cd07832	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	179	cd05047	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	177	cd05058	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	164	cd05619	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	220	cd05053	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	170	cd05113	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	169	cd05114	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	169	cd05112	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	171	cd05059	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	179	cd05081	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	179	cd05065	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	203	cd05038	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	213	cd05033	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	180	cd05079	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	177	cd05066	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	182	cd06616	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	215	cd05043	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	178	cd05080	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	178	cd08220	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	181	cd06917	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	177	cd06630	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	204	cd07846	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	178	cd06631	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	167	cd07839	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	284	cd06606	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	184	cd06628	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	190	cd06632	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	203	cd06626	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	179	cd06634	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	192	cd06618	NULL
4914	59889558	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	222	cd06614	NULL
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	170	cd05578	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	165	cd05071	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	185	cd07852	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	183	cd05062	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	228	cd05032	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	186	cd05036	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	184	cd05061	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	176	cd05034	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	159	cd05083	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	161	cd05082	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	166	cd05072	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	165	cd05069	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	171	cd05068	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	165	cd05070	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	168	cd05039	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	166	cd05073	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	165	cd05067	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	201	cd05056	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	167	cd05052	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	187	cd07865	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	685	smart00220	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	180	cd06659	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	201	cd05101	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	162	cd06642	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	168	cd06613	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	162	cd06640	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	163	cd06641	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	168	cd07847	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	185	cd07845	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	183_G	cd05076	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	170	cd06653	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	172	cd06629	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	170	cd06651	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	170	cd06625	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	161_G	cd05582	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	178	cd06624	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	169_G	cd06620	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	168	cd06645	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	168	cd06646	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	227	cd05057	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	231	cd05096	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	249	cd05046	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	196	cd05049	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	186	cd05092	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	234	cd05051	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	205	cd05095	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	197	cd05050	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	195	cd05097	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	194	cd05094	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	184	cd05093	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	188	cd05091	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	188	cd05090	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	191	cd05048	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	172_G	cd05064	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	173	cd05063	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	166	cd07844	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	165	cd07871	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	165	cd07870	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	171	cd05058	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	186_G	cd07832	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	173	cd05047	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	181	cd05044	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	165	cd08221	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	157	cd05085	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	159	cd05619	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	165_G	cd05577	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	488	cd05579	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	225	cd05572	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	728	cd05123	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	157	cd05570	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	622	cd00180	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	166	cd06643	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	173	cd05108	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	173	cd05110	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	173	cd06644	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	173	cd05109	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	173	cd05111	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	185	cd05088	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	244	cd05103	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	242	cd05102	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	293	cd05054	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	189	cd07835	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	243_G	cd07830	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	214	cd06614	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	214	cd05053	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	164	cd05113	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	163	cd05114	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	163	cd05112	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	165	cd05059	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	172	cd05080	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	178_G	cd06616	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	173	cd05081	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	173	cd05065	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	197	cd05038	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	207	cd05033	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	174	cd05079	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	171	cd05066	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	209	cd05043	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	304	cd05105	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	187	cd05037	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	393	cd00192	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	160	cd05116	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	167	cd05060	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	168	cd05042	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	160	cd05041	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	175	cd05040	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	176	cd06647	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	176	cd06648	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	204	cd05098	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	169	cd08228	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	165_G	cd06615	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	172	cd07862	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	182	cd06622	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	176	cd06610	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	168_G	cd06617	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	162	cd08218	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	169	cd08229	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	167	cd08225	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	163	cd08219	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	220	cd05580	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	184_G	cd06605	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	180	cd05089	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	799	COG0515	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	165	cd05612	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	219_G	cd06623	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	175_G	cd06621	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	195	cd07841	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	395	cd05581	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	173_G	cd08530	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	206_G	cd06608	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	174	cd06917	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	171	cd06630	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	196	cd06626	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	175_G	cd08220	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	187_G	cd06632	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	173	cd06628	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	197	cd07846	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	168	cd06631	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	161	cd07839	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	277	cd06606	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	168_G	cd06611	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	168	cd05078	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	170	cd05077	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	160	cd05115	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	267	cd07840	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	164	cd05086	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	169	cd05087	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	158	cd05084	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	277	cd07842	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	196	cd07838	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	171_G	cd07843	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	216_G	cd07833	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	202	cd07829	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	175_G	cd05118	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106	smart00750	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	306	cd05107	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	303	cd05055	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	182	cd07864	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	202	cd07866	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	187	cd06638	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	198	cd05100	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	198	cd05099	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	181	cd07837	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	164	cd08223	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	169	cd08222	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	234_G	cd08215	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	188	cd08528	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	164	cd05605	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	254_G	cd07834	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	170	cd05583	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	167	cd08529	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	175	cd06627	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	177	cd06612	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	205	cd05122	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	164	cd07861	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	190	cd06609	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	237_G	cd08217	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	165	cd07836	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	173_G	cd07831	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	191	cd05045	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	187	cd05035	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	191	cd05075	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	177	cd05074	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	766	smart00221	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	162	cd07860	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	548	smart00219	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	344	pfam07714	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	288	pfam00069	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	174	cd06634	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	186	cd06618	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	172	cd08224	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	168	cd05148	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	194	cd06652	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	172	cd07863	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	174_G	cd06607	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	286	cd05106	4585712,NP_002520
4914	94730402	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	288	cd05104	4585712,NP_002520
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	205	cd07847	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	198	cd06640	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	198	cd06641	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	198	cd06642	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	264	cd07845	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	206	cd06613	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	342	cd05107	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	340	cd05105	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	251	cd06614	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	210	cd05080	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	215	cd06616	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	245	cd05043	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	251	cd05053	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	200	cd05113	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	199	cd05114	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	199	cd05112	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	201	cd05059	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	224	cd05081	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	209	cd05065	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	250	cd05038	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	243	cd05033	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	210	cd05079	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	207	cd05066	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	211	cd06607	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	209	cd05109	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	209	cd05111	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	209	cd05108	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	209	cd05110	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	221	cd05088	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	280	cd05103	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	278	cd05102	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	329	cd05054	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	205	cd06643	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	212	cd06644	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	213	cd06634	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	220	cd06618	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	792	smart00220	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	213	cd06648	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	240	cd05098	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	204	cd05148	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	230	cd06652	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	204	cd08224	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	206	cd07863	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	212	cd06647	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	213	cd06624	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	339	cd05055	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	213	cd06628	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	223	cd06632	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	244	cd06626	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	243	cd07846	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	207	cd06631	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	198	cd07839	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	344	cd06606	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	208	cd08220	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	211	cd06917	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	206	cd06630	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	267	cd05096	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	286	cd05046	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	232	cd05049	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	222	cd05092	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	270	cd05051	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	241	cd05095	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	233	cd05050	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	231	cd05097	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	230	cd05094	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	220	cd05093	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	202	cd07844	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	201	cd07871	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	208	cd07870	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	206	cd06645	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	206	cd06646	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	207	cd05064	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	209	cd05063	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	203	cd06620	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	224	cd05091	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	224	cd05090	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	227	cd05048	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	263	cd05057	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	198	smart00750	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	297	cd07830	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	231	cd07835	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	217	cd05044	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	202	cd08221	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	193	cd05085	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	198	cd05577	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	741	cd05579	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	268	cd05572	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	809	cd05123	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	195	cd05570	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	228	cd07832	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	193	cd05619	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	207	cd05058	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	209	cd05047	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	683	cd00180	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	220	cd05076	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	219	cd05062	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	264	cd05032	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	222	cd05036	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	227	cd07865	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	220	cd05061	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	203	cd05052	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	208	cd05578	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	212	cd05034	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	195	cd05083	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	197	cd05082	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	202	cd05072	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	201	cd05069	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	207	cd05068	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	201	cd05070	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	204	cd05039	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	202	cd05073	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	201	cd05067	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	201	cd05071	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	247	cd07852	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	237	cd05056	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	589	smart00219	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	395	pfam07714	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	354	pfam00069	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	864	smart00221	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	204	cd07860	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	223	cd05035	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	227	cd05075	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	213	cd05074	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	217	cd07864	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	226	cd06638	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	235	cd05100	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	234	cd05099	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	253	cd07866	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	199	cd08223	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	204	cd08222	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	267	cd08215	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	219_G	cd08528	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	204	cd08529	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	242	cd06627	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	217	cd06612	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	303	cd07834	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	206	cd05583	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	199	cd07861	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	228	cd06609	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	241	cd07837	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	198	cd05605	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	227	cd05045	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	242	cd05122	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	270	cd08217	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	207	cd07836	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	210	cd07831	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	207	cd05086	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	212	cd05087	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	194	cd05084	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	321	cd07842	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	253	cd07838	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	220	cd07843	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	207	cd05077	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	207	cd06611	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	196	cd05115	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	278	cd07833	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	259	cd07829	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	216	cd05118	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	296	cd07840	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	205	cd05078	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	206	cd06653	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	207	cd06625	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	213	cd06629	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	206	cd06651	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	195	cd05582	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	212	cd06617	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	198	cd08218	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	203	cd08229	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	199	cd08225	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	197	cd08219	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	256	cd06623	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	221	cd06605	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	216	cd05089	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	448	cd05581	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	931	COG0515	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	195	cd05612	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	260	cd07841	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	260	cd05580	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	214	cd06621	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	203	cd08228	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	205	cd08530	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	250	cd06608	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	207	cd06615	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	206	cd07862	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	222	cd06622	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	221	cd06610	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	214	cd06659	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	237	cd05101	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	324	cd05104	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	322	cd05106	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	211	cd05042	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	196	cd05041	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	211	cd05040	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	196	cd05116	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	203	cd05060	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	231	cd05037	NULL
4914	56118210	Disease	p.Pro689Leu	191315.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	439	cd00192	NULL
4914	59889558	Disease	p.Tyr359Cys	191315.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd04971	NULL
4914	59889558	Disease	p.Tyr359Cys	191315.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	61	cd05855	NULL
4914	94730402	Disease	p.Tyr359Cys	191315.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd04971	4585712,NP_002520
4914	94730402	Disease	p.Tyr359Cys	191315.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	61	cd05855	4585712,NP_002520
4914	56118210	Disease	p.Tyr359Cys	191315.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	No Domain	N/A	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	120	cd07834	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	82	cd05583	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd05045	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd07861	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	92	cd06609	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd08217	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd07836	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd07831	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd08223	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd08222	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103	cd08215	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd08528	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90	cd07837	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd05122	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd05605	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	81	cd08529	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	82	cd06627	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	88	cd06612	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd06659	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd05101	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	87	cd06624	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	83	cd06653	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	83	cd06651	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	83	cd06625	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	84	cd06629	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd05582	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd06642	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd06613	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd06640	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd06641	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd07847	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd07845	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93	cd06648	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd05098	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	118	cd05105	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd05148	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	83	cd06652	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	87	cd07863	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd08224	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd05108	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd05110	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	89	cd05103	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	89	cd05102	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	89	cd05054	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd05109	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd05111	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	86	cd06644	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd06643	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd05088	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	369	smart00221	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd07860	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94	cd05035	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	83	cd05075	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	83	cd05074	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	241	smart00219	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	128	pfam07714	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	133	pfam00069	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	425	COG0515	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd05612	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	81	cd06605	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd05089	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	129	cd05581	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd08530	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	116	cd06608	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	81	cd06621	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd06617	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd08218	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd08229	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd08225	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd08219	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd06623	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	92	cd07841	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd06610	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd06615	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	86	cd07862	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd06622	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd08228	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	126	cd05580	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	118	cd05055	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	108	cd07866	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94	cd07864	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97	cd06638	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd05100	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd05099	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	83	cd07835	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	117	cd07830	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	300	smart00220	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93	cd06647	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	92	cd06607	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93	cd05076	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93	cd05037	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	139	cd00192	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05116	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd05060	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd05042	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	71	cd05041	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd05040	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	118	cd05107	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	116	cd05104	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	120	cd05106	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	86	cd05061	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd05034	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd05083	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd05082	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd05072	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd05069	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd05068	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd05070	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	81	cd05039	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd05073	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd05067	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd07865	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	112	cd05056	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	86	cd05062	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd05032	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	86	cd05036	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd05052	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	87	cd07852	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd05071	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd05578	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd05078	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd07838	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	91	cd07843	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99	cd07833	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104	cd07829	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd05118	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05086	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05087	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05084	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	173	cd07842	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	81	cd05077	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	120	cd07840	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	71	cd05115	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	81	cd06611	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	84	cd05094	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	84	cd05093	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd05091	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	84	cd05090	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	86	cd05048	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd07844	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd07871	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd07870	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96	cd05096	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	145	cd05046	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	87	cd05049	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	84	cd05092	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd05051	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99	cd05095	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd05050	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96	cd05097	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	83	cd05064	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	84	cd05063	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	83	cd06645	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	83	cd06646	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	135	cd05057	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	82	cd06620	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd05577	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd05570	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	244	cd00180	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd05044	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd08221	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05085	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05579	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd05572	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	111	cd05123	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	89	cd07832	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd05047	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	81	cd05058	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd05619	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd05053	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd05113	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd05114	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd05112	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd05059	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	84	cd05081	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	82	cd05065	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd05038	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106	cd05033	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd05079	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	82	cd05066	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	87	cd06616	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109	cd05043	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd05080	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd08220	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd06917	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd06630	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd07846	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd06631	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd07839	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	152	cd06606	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd06628	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96	cd06632	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd06626	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	92	cd06634	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	91	cd06618	NULL
4914	59889558	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd06614	NULL
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	71	cd05578	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05071	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	81	cd07852	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd05062	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	111	cd05032	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd05036	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd05061	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05034	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05083	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05082	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05072	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05069	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05068	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05070	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd05039	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05073	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05067	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd05056	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd05052	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	84	cd07865	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	226	smart00220	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	89	cd06659	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	92	cd05101	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd06642	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd06613	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd06640	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd06641	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	71	cd07847	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76_G	cd07845	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	87	cd05076	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd06653	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd06629	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd06651	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd06625	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05582	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd06624	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd06620	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd06645	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd06646	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	129	cd05057	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90	cd05096	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	139	cd05046	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd05049	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd05092	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	112	cd05051	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93	cd05095	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd05050	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90	cd05097	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd05094	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd05093	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd05091	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd05090	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd05048	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd05064	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd05063	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd07844	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd07871	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd07870	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd05058	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd07832	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	67	cd05047	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05044	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd08221	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	64	cd05085	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	67	cd05619	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05577	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd05579	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	113	cd05572	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105	cd05123	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05570	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	183	cd00180	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd06643	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd05108	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd05110	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd06644	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd05109	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79_G	cd05111	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd05088	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	83	cd05103	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	82	cd05102	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	83	cd05054	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd07835	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104	cd07830	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99	cd06614	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	89	cd05053	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05113	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05114	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05112	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05059	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd05080	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	82	cd06616	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd05081	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd05065	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	81	cd05038	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd05033	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd05079	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd05066	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94	cd05043	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	112	cd05105	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	87	cd05037	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	122	cd00192	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd05116	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	71	cd05060	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd05042	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	65	cd05041	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05040	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	87	cd06647	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	87	cd06648	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd05098	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd08228	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd06615	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd07862	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd06622	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd06610	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd06617	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd08218	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd08229	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd08225	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd08219	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	120	cd05580	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd06605	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd05089	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	374	COG0515	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05612	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	90	cd06623	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd06621	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd07841	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	123	cd05581	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	71	cd08530	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99	cd06608	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd06917	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd06630	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd06626	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd08220	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd06632	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd06628	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd07846	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd06631	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd07839	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	135	cd06606	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd06611	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd05078	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd05077	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	65	cd05115	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97	cd07840	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd05086	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	66	cd05087	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	64	cd05084	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	165	cd07842	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	78	cd07838	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	80	cd07843	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	92	cd07833	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd07829	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	73	cd05118	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	112	cd05107	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	112	cd05055	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd07864	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	79	cd07866	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	91	cd06638	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	89	cd05100	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	89	cd05099	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd07837	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd08223	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd08222	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	89	cd08215	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	89	cd08528	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	71	cd05605	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd07834	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd05583	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd08529	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	75	cd06627	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	81	cd06612	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	87	cd05122	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	71	cd07861	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	84	cd06609	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd08217	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd07836	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	69	cd07831	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd05045	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	82	cd05035	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd05075	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	72	cd05074	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	304	smart00221	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	70	cd07860	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	225	smart00219	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	117	pfam07714	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	pfam00069	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	86	cd06634	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	85	cd06618	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd08224	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	74	cd05148	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	77	cd06652	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	76	cd07863	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	86	cd06607	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	114	cd05106	4585712,NP_002520
4914	94730402	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	110	cd05104	4585712,NP_002520
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	92	cd07847	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95_G	cd06640	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93_G	cd06641	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd06642	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115	cd07845	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd06613	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	205	cd05107	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	232	cd05105	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	142	cd06614	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd05080	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115	cd06616	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	134	cd05043	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	142	cd05053	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97_G	cd05113	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05114	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05112	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93_G	cd05059	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107_G	cd05081	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd05065	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	121	cd05038	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	125	cd05033	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105_G	cd05079	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104_G	cd05066	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd06607	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd05109	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd05111	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105_G	cd05108	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105_G	cd05110	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	116	cd05088	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	127	cd05103	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	170	cd05102	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	217	cd05054	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95_G	cd06643	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103	cd06644	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd06634	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd06618	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	347	smart00220	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd06648	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	131	cd05098	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd05148	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	117	cd06652	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd08224	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103	cd07863	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd06647	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105_G	cd06624	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	231	cd05055	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109_G	cd06628	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115_G	cd06632	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd06626	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	93	cd07846	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105_G	cd06631	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98	cd07839	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	172	cd06606	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105_G	cd08220	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	113_G	cd06917	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104	cd06630	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	148	cd05096	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	178	cd05046	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd05049	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	114	cd05092	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	153	cd05051	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	133	cd05095	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	125	cd05050	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	126	cd05097	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	114	cd05094	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	112_G	cd05093	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106	cd07844	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd07871	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96_G	cd07870	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99	cd06645	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106_G	cd06646	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd05064	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	108_G	cd05063	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102	cd06620	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	116	cd05091	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	116	cd05090	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd05048	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	157	cd05057	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	6	smart00750	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	144	cd07830	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	118	cd07835	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102	cd05044	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102_G	cd08221	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05085	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98_G	cd05577	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97	cd05579	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	158	cd05572	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	204	cd05123	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99	cd05570	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106	cd07832	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05619	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109_G	cd05058	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104	cd05047	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	314	cd00180	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	111_G	cd05076	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	112	cd05062	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	156	cd05032	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	110_G	cd05036	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	119	cd07865	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	113_G	cd05061	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104	cd05052	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102	cd05578	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99_G	cd05034	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100_G	cd05083	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102_G	cd05082	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99_G	cd05072	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100_G	cd05069	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd05068	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	97	cd05070	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102_G	cd05039	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd05073	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	98_G	cd05067	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100_G	cd05071	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109	cd07852	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	132_G	cd05056	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	362	smart00219	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	245	pfam07714	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	169	pfam00069	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	409	smart00221	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	96_G	cd07860	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115	cd05035	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115	cd05075	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105	cd05074	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	118_G	cd07864	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	121	cd06638	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	125	cd05100	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	126	cd05099	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	136_G	cd07866	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102_G	cd08223	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107_G	cd08222	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	138_G	cd08215	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	122_G	cd08528	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100_G	cd08529	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd06627	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115_G	cd06612	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	135_G	cd07834	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99_G	cd05583	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd07861	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	115	cd06609	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	110_G	cd07837	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd05605	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	117	cd05045	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	125	cd05122	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106	cd08217	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	95	cd07836	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104_G	cd07831	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd05086	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd05087	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05084	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	196	cd07842	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	118	cd07838	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106	cd07843	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	99_G	cd05077	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100_G	cd06611	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	91_G	cd05115	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	112	cd07833	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	132_G	cd07829	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104_G	cd05118	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	143_G	cd07840	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104_G	cd05078	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd06653	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109_G	cd06625	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	111	cd06629	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd06651	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	100	cd05582	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105	cd06617	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd08218	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	108	cd08229	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101_G	cd08225	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd08219	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	127	cd06623	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd06605	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	111	cd05089	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	159	cd05581	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	462	COG0515	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	103_G	cd05612	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	113_G	cd07841	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	147_G	cd05580	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	111	cd06621	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	105_G	cd08228	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	107	cd08530	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	144	cd06608	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102	cd06615	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	101	cd07862	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	106	cd06622	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	108	cd06610	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109	cd06659	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	129	cd05101	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	161	cd05104	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	214	cd05106	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	104	cd05042	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	94_G	cd05041	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102_G	cd05040	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	92	cd05116	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	102_G	cd05060	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	109_G	cd05037	NULL
4914	56118210	Disease	p.Met581Val	191315.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191315	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS	OMIM	299	cd00192	NULL
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	181	cd06612	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	173	cd06653	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168_G	cd06613	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd06640	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd06642	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd06641	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	169	cd06620	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	179	cd06624	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	306	cd05055	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	201	cd05099	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	179	cd06610	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	393	cd05581	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171_G	cd08529	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	181	cd06628	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	198	cd07838	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	178	cd06629	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	198	cd07851	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	204	cd05101	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	231	cd07865	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	163_G	cd07839	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	175_G	cd08220	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd07846	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	212	cd07833	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd05047	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	170	cd05060	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	163	cd05116	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	163	cd05570	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd05118	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	170	cd07831	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	396	cd00192	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171	cd05078	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	190	cd05037	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	185	cd05076	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	173	cd05077	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	187_G	cd06632	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	161	cd05084	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	163	cd05041	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	184	cd05044	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171	cd05042	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	174	cd07837	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	172	cd05087	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	160	cd05085	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	178	cd05040	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	167	cd05086	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	174	cd05058	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	309	cd05107	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	307	cd05105	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	207	cd05098	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	172_G	cd08224	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171_G	cd08222	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	237_G	cd08217	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	303	cd07840	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	196	cd06626	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	234_G	cd08215	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd07843	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	185	cd06622	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	291	cd05104	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd08219	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	254_G	cd07834	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	174	cd06630	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	167_G	cd07836	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	204	cd05056	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	189	cd05036	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	184_G	cd07864	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	181_G	cd06648	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	188	cd07845	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd06634	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	217	cd05053	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	245	cd05102	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	187	cd05093	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd05071	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	247	cd05103	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	197	cd05094	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	200	cd05050	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	252	cd05046	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	208	cd05095	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	186	cd05062	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	234	cd05096	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	189	cd05092	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	170_G	cd06611	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	237	cd05051	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	198	cd05097	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	199	cd05049	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	231	cd05032	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd05063	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	174	cd05064	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	296	cd05054	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	170	cd05052	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	201	cd05100	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	187	cd05061	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	164	cd05082	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171	cd05148	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	194	cd05048	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	169	cd05072	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	191	cd05091	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	179	cd05034	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd05070	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	191	cd05090	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd05067	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	174	cd05068	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171	cd05039	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	169	cd05073	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd05069	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	182_G	cd06659	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	219_G	cd06614	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171_G	cd05578	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	212	cd05043	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	173	cd08530	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	164_G	cd07860	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	188	cd08528	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	192	cd07841	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd05631	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd05630	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd05605	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd05632	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	187	cd07832	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171	cd06631	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	281	cd06606	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	208	cd06627	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171_G	cd08229	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	167	cd08223	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	181	cd07857	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	205_G	cd05122	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	265	cd07842	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171_G	cd08228	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	194	cd05045	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	186	cd06635	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	294	pfam00069	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	192	cd07835	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	552	smart00219	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	167	cd07861	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	244_G	cd07830	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	347	pfam07714	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	173	cd06651	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	180	cd05074	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	194	cd05075	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	190	cd05035	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	240	cd05574	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	183	cd05089	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	205	cd07829	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	860	smart00221	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	289	cd05106	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	177	cd05079	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd05059	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	167	cd05113	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd05112	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd05114	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	175	cd05080	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd05081	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	210	cd05033	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	174	cd05066	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	200	cd05038	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	188	cd05088	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	162	cd05083	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	205	cd07866	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	165	cd06615	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168_G	cd07873	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	169	cd06617	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	218	cd05580	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	178_G	cd06917	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	194_G	cd06609	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	165	cd06621	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171	cd07847	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd08218	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168_G	cd07872	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	219_G	cd06623	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	179	cd06619	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	185_G	cd06605	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd05108	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	802	COG0515	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	163	cd05612	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	167_G	cd07871	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	230	cd05057	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd05111	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	302	cd05579	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	169_G	cd08221	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	625	cd00180	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	236	cd05572	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	685	cd05123	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	162_G	cd05608	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	165	cd05577	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd05110	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	170	cd06625	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	163	cd05115	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	175	cd07863	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	664	smart00220	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd05109	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd05065	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	184	cd07870	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168_G	cd07844	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	181	cd06612	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	173	cd06653	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168_G	cd06613	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd06640	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd06642	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd06641	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	169	cd06620	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	179	cd06624	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	306	cd05055	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	201	cd05099	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	179	cd06610	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	393	cd05581	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171_G	cd08529	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	181	cd06628	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	198	cd07838	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	178	cd06629	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	198	cd07851	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	204	cd05101	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	231	cd07865	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	163_G	cd07839	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	175_G	cd08220	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd07846	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	212	cd07833	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd05047	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	170	cd05060	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	163	cd05116	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	163	cd05570	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd05118	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	170	cd07831	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	396	cd00192	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171	cd05078	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	190	cd05037	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	185	cd05076	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	173	cd05077	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	187_G	cd06632	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	161	cd05084	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	163	cd05041	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	184	cd05044	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171	cd05042	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	174	cd07837	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	172	cd05087	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	160	cd05085	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	178	cd05040	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	167	cd05086	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	174	cd05058	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	309	cd05107	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	307	cd05105	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	207	cd05098	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	172_G	cd08224	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171_G	cd08222	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	237_G	cd08217	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	303	cd07840	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	196	cd06626	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	234_G	cd08215	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd07843	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	185	cd06622	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	291	cd05104	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd08219	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	254_G	cd07834	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	174	cd06630	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	167_G	cd07836	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	204	cd05056	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	189	cd05036	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	184_G	cd07864	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	181_G	cd06648	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	188	cd07845	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd06634	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	217	cd05053	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	245	cd05102	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	187	cd05093	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd05071	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	247	cd05103	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	197	cd05094	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	200	cd05050	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	252	cd05046	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	208	cd05095	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	186	cd05062	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	234	cd05096	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	189	cd05092	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	170_G	cd06611	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	237	cd05051	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	198	cd05097	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	199	cd05049	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	231	cd05032	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd05063	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	174	cd05064	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	296	cd05054	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	170	cd05052	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	201	cd05100	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	187	cd05061	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	164	cd05082	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171	cd05148	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	194	cd05048	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	169	cd05072	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	191	cd05091	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	179	cd05034	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd05070	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	191	cd05090	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd05067	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	174	cd05068	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171	cd05039	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	169	cd05073	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd05069	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	182_G	cd06659	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	219_G	cd06614	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171_G	cd05578	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	212	cd05043	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	173	cd08530	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	164_G	cd07860	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	188	cd08528	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	192	cd07841	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd05631	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd05630	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd05605	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd05632	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	187	cd07832	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171	cd06631	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	281	cd06606	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	208	cd06627	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171_G	cd08229	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	167	cd08223	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	181	cd07857	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	205_G	cd05122	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	265	cd07842	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171_G	cd08228	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	194	cd05045	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	186	cd06635	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	294	pfam00069	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	192	cd07835	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	552	smart00219	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	167	cd07861	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	244_G	cd07830	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	347	pfam07714	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	173	cd06651	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	180	cd05074	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	194	cd05075	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	190	cd05035	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	240	cd05574	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	183	cd05089	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	205	cd07829	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	860	smart00221	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	289	cd05106	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	177	cd05079	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd05059	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	167	cd05113	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd05112	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd05114	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	175	cd05080	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd05081	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	210	cd05033	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	174	cd05066	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	200	cd05038	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	188	cd05088	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	162	cd05083	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	205	cd07866	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	165	cd06615	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168_G	cd07873	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	169	cd06617	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	218	cd05580	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	178_G	cd06917	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	194_G	cd06609	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	165	cd06621	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171	cd07847	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd08218	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168_G	cd07872	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	219_G	cd06623	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	179	cd06619	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	185_G	cd06605	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd05108	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	802	COG0515	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	163	cd05612	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	167_G	cd07871	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	230	cd05057	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd05111	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	302	cd05579	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	169_G	cd08221	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	625	cd00180	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	236	cd05572	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	685	cd05123	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	162_G	cd05608	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	165	cd05577	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd05110	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	170	cd06625	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	163	cd05115	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	175	cd07863	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	664	smart00220	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd05109	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd05065	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	184	cd07870	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	191311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168_G	cd07844	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	156	cd06612	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd06653	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	144	cd06613	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	142	cd06640	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	142	cd06642	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	142	cd06641	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd06620	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	155	cd06624	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	280	cd05055	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	175	cd05099	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	153	cd06610	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	257	cd05581	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd08529	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	149	cd06628	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd07838	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	151	cd06629	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	175	cd07851	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	178	cd05101	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	165	cd07865	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	140	cd07839	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	152	cd08220	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	142	cd07846	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd07833	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	153	cd05047	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05060	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	136	cd05116	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	139	cd05570	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	150	cd05118	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	148	cd07831	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	361	cd00192	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	151	cd05078	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd05037	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	165	cd05076	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	153	cd05077	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	160	cd06632	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	135	cd05084	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	137	cd05041	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	158	cd05044	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	144	cd05042	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	160	cd07837	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd05087	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	135	cd05085	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	149	cd05040	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	141	cd05086	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd05058	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	283	cd05107	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	281	cd05105	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	181	cd05098	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	148	cd08224	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd08222	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	212	cd08217	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	191	cd07840	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	144	cd06626	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	201	cd08215	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	160	cd07843	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	157	cd06622	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	265	cd05104	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	141	cd08219	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	187	cd07834	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	145	cd06630	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	144	cd07836	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	177	cd05056	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	162	cd05036	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	159	cd07864	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	157	cd06648	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	162	cd07845	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	156	cd06634	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	191	cd05053	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	219	cd05102	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	161	cd05093	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05071	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	221	cd05103	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	164	cd05094	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	174	cd05050	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	227	cd05046	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	182	cd05095	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	160	cd05062	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	208	cd05096	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	163	cd05092	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd06611	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	206	cd05051	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	172	cd05097	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	173	cd05049	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	205	cd05032	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	149	cd05063	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	148	cd05064	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	269	cd05054	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	145	cd05052	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	175	cd05100	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	161	cd05061	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05082	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd05148	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd05048	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	144	cd05072	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	165	cd05091	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	148	cd05034	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05070	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	165	cd05090	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05067	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd05068	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd05039	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	144	cd05073	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05069	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	158	cd06659	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	193	cd06614	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	142	cd05578	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	186	cd05043	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	150	cd08530	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	141	cd07860	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	164	cd08528	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	158	cd07841	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05631	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05630	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05605	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05632	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	161	cd07832	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	145	cd06631	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	231	cd06606	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	151	cd06627	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd08229	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd08223	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	150	cd07857	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd05122	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	251	cd07842	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd08228	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd05045	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd06635	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	252	pfam00069	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd07835	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	454	smart00219	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd07861	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	217	cd07830	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	316	pfam07714	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd06651	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	154	cd05074	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd05075	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	164	cd05035	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	164	cd05574	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	160	cd05089	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	191	cd07829	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	724	smart00221	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	263	cd05106	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	150	cd05079	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05059	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	142	cd05113	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	141	cd05112	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	141	cd05114	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	148	cd05080	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	149	cd05081	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	179	cd05033	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd05066	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	173	cd05038	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	165	cd05088	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	141	cd05083	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	172	cd07866	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd06615	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	145	cd07873	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd06617	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	195	cd05580	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	152	cd06917	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	165	cd06609	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	151	cd06621	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd07847	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	142	cd08218	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	145	cd07872	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	190	cd06623	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	157	cd06619	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	160	cd06605	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	150	cd05108	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	661	COG0515	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	142	cd05612	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	144	cd07871	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	203	cd05057	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	150	cd05111	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	137	cd05579	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd08221	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	441	cd00180	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	209	cd05572	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	657	cd05123	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	138	cd05608	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	141	cd05577	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	150	cd05110	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd06625	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	136	cd05115	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	152	cd07863	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	509	smart00220	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	150	cd05109	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd05065	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	144	cd07870	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	145	cd07844	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	156	cd06612	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd06653	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	144	cd06613	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	142	cd06640	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	142	cd06642	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	142	cd06641	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd06620	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	155	cd06624	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	280	cd05055	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	175	cd05099	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	153	cd06610	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	257	cd05581	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd08529	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	149	cd06628	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd07838	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	151	cd06629	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	175	cd07851	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	178	cd05101	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	165	cd07865	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	140	cd07839	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	152	cd08220	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	142	cd07846	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd07833	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	153	cd05047	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05060	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	136	cd05116	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	139	cd05570	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	150	cd05118	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	148	cd07831	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	361	cd00192	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	151	cd05078	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd05037	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	165	cd05076	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	153	cd05077	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	160	cd06632	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	135	cd05084	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	137	cd05041	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	158	cd05044	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	144	cd05042	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	160	cd07837	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd05087	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	135	cd05085	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	149	cd05040	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	141	cd05086	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd05058	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	283	cd05107	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	281	cd05105	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	181	cd05098	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	148	cd08224	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd08222	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	212	cd08217	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	191	cd07840	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	144	cd06626	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	201	cd08215	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	160	cd07843	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	157	cd06622	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	265	cd05104	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	141	cd08219	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	187	cd07834	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	145	cd06630	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	144	cd07836	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	177	cd05056	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	162	cd05036	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	159	cd07864	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	157	cd06648	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	162	cd07845	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	156	cd06634	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	191	cd05053	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	219	cd05102	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	161	cd05093	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05071	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	221	cd05103	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	164	cd05094	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	174	cd05050	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	227	cd05046	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	182	cd05095	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	160	cd05062	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	208	cd05096	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	163	cd05092	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd06611	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	206	cd05051	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	172	cd05097	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	173	cd05049	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	205	cd05032	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	149	cd05063	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	148	cd05064	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	269	cd05054	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	145	cd05052	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	175	cd05100	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	161	cd05061	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05082	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd05148	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd05048	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	144	cd05072	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	165	cd05091	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	148	cd05034	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05070	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	165	cd05090	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05067	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd05068	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd05039	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	144	cd05073	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05069	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	158	cd06659	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	193	cd06614	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	142	cd05578	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	186	cd05043	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	150	cd08530	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	141	cd07860	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	164	cd08528	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	158	cd07841	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05631	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05630	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05605	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05632	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	161	cd07832	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	145	cd06631	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	231	cd06606	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	151	cd06627	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd08229	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd08223	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	150	cd07857	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd05122	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	251	cd07842	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd08228	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd05045	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd06635	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	252	pfam00069	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd07835	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	454	smart00219	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd07861	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	217	cd07830	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	316	pfam07714	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd06651	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	154	cd05074	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd05075	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	164	cd05035	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	164	cd05574	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	160	cd05089	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	191	cd07829	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	724	smart00221	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	263	cd05106	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	150	cd05079	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd05059	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	142	cd05113	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	141	cd05112	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	141	cd05114	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	148	cd05080	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	149	cd05081	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	179	cd05033	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd05066	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	173	cd05038	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	165	cd05088	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	141	cd05083	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	172	cd07866	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd06615	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	145	cd07873	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd06617	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	195	cd05580	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	152	cd06917	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	165	cd06609	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	151	cd06621	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd07847	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	142	cd08218	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	145	cd07872	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	190	cd06623	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	157	cd06619	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	160	cd06605	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	150	cd05108	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	661	COG0515	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	142	cd05612	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	144	cd07871	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	203	cd05057	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	150	cd05111	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	137	cd05579	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd08221	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	441	cd00180	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	209	cd05572	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	657	cd05123	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	138	cd05608	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	141	cd05577	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	150	cd05110	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd06625	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	136	cd05115	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	152	cd07863	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	509	smart00220	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	150	cd05109	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd05065	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	144	cd07870	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	191311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	145	cd07844	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd06612	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd06653	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	131	cd06613	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	129	cd06640	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	129	cd06642	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	129	cd06641	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd06620	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	141	cd06624	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	267	cd05055	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	162	cd05099	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	140	cd06610	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	244	cd05581	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd08529	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	136	cd06628	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	154	cd07838	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	138	cd06629	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	162	cd07851	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	165	cd05101	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	152	cd07865	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	127	cd07839	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	138	cd08220	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	129	cd07846	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	150	cd07833	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	140	cd05047	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05060	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	123	cd05116	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	126	cd05570	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	137	cd05118	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	129	cd07831	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	337	cd00192	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05078	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd05037	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	145	cd05076	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	133	cd05077	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd06632	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	122	cd05084	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	124	cd05041	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	138	cd05044	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	131	cd05042	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd07837	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	133	cd05087	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	122	cd05085	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	132	cd05040	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	128	cd05086	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	133	cd05058	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	270	cd05107	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	268	cd05105	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd05098	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	135	cd08224	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	135	cd08222	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	169	cd08217	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	177	cd07840	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd06626	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171	cd08215	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd07843	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd06622	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	252	cd05104	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	128	cd08219	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171	cd07834	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	131	cd06630	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	131	cd07836	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	164	cd05056	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd05036	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd07864	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	144	cd06648	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	149	cd07845	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd06634	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	178	cd05053	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	206	cd05102	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	148	cd05093	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05071	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	208	cd05103	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	151	cd05094	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	161	cd05050	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	214	cd05046	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	169	cd05095	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd05062	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	184	cd05096	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	150	cd05092	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	133	cd06611	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	189	cd05051	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	159	cd05097	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	155	cd05049	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	192	cd05032	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	136	cd05063	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	135	cd05064	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	256	cd05054	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	132	cd05052	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	162	cd05100	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	148	cd05061	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05082	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	133	cd05148	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	155	cd05048	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	131	cd05072	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	152	cd05091	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	131	cd05034	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05070	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	152	cd05090	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05067	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	133	cd05068	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd05039	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	131	cd05073	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05069	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	145	cd06659	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	180	cd06614	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	129	cd05578	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	170	cd05043	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd08530	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	128	cd07860	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	151	cd08528	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	145	cd07841	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05631	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05630	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05605	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05632	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd07832	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	132	cd06631	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	209	cd06606	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	135	cd06627	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd08229	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd08223	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	137	cd07857	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	162	cd05122	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	232	cd07842	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd08228	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	155	cd05045	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	153	cd06635	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	219	pfam00069	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	154	cd07835	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	425	smart00219	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd07861	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	180	cd07830	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	284	pfam07714	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd06651	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	141	cd05074	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	155	cd05075	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	151	cd05035	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	151	cd05574	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd05089	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd07829	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	640	smart00221	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	250	cd05106	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	137	cd05079	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05059	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	129	cd05113	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	128	cd05112	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	128	cd05114	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	135	cd05080	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	136	cd05081	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd05033	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd05066	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	156	cd05038	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	152	cd05088	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	128	cd05083	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	159	cd07866	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd06615	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	132	cd07873	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	133	cd06617	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	182	cd05580	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	138	cd06917	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	151	cd06609	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	138	cd06621	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd07847	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	129	cd08218	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	132	cd07872	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd06623	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	144	cd06619	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd06605	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	137	cd05108	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	585	COG0515	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	129	cd05612	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	131	cd07871	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	190	cd05057	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	137	cd05111	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	124	cd05579	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd08221	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	369	cd00180	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	196	cd05572	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	644	cd05123	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	125	cd05608	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	128	cd05577	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	137	cd05110	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd06625	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	123	cd05115	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	139	cd07863	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	430	smart00220	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	137	cd05109	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd05065	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	131	cd07870	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	132	cd07844	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd06612	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd06653	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	131	cd06613	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	129	cd06640	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	129	cd06642	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	129	cd06641	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd06620	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	141	cd06624	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	267	cd05055	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	162	cd05099	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	140	cd06610	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	244	cd05581	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd08529	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	136	cd06628	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	154	cd07838	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	138	cd06629	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	162	cd07851	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	165	cd05101	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	152	cd07865	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	127	cd07839	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	138	cd08220	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	129	cd07846	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	150	cd07833	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	140	cd05047	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05060	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	123	cd05116	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	126	cd05570	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	137	cd05118	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	129	cd07831	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	337	cd00192	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05078	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd05037	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	145	cd05076	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	133	cd05077	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd06632	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	122	cd05084	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	124	cd05041	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	138	cd05044	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	131	cd05042	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd07837	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	133	cd05087	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	122	cd05085	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	132	cd05040	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	128	cd05086	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	133	cd05058	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	270	cd05107	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	268	cd05105	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd05098	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	135	cd08224	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	135	cd08222	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	169	cd08217	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	177	cd07840	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd06626	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171	cd08215	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd07843	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd06622	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	252	cd05104	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	128	cd08219	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	171	cd07834	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	131	cd06630	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	131	cd07836	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	164	cd05056	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd05036	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd07864	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	144	cd06648	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	149	cd07845	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd06634	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	178	cd05053	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	206	cd05102	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	148	cd05093	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05071	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	208	cd05103	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	151	cd05094	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	161	cd05050	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	214	cd05046	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	169	cd05095	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd05062	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	184	cd05096	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	150	cd05092	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	133	cd06611	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	189	cd05051	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	159	cd05097	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	155	cd05049	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	192	cd05032	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	136	cd05063	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	135	cd05064	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	256	cd05054	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	132	cd05052	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	162	cd05100	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	148	cd05061	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05082	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	133	cd05148	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	155	cd05048	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	131	cd05072	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	152	cd05091	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	131	cd05034	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05070	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	152	cd05090	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05067	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	133	cd05068	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd05039	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	131	cd05073	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05069	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	145	cd06659	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	180	cd06614	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	129	cd05578	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	170	cd05043	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd08530	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	128	cd07860	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	151	cd08528	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	145	cd07841	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05631	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05630	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05605	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05632	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	143	cd07832	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	132	cd06631	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	209	cd06606	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	135	cd06627	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd08229	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd08223	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	137	cd07857	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	162	cd05122	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	232	cd07842	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd08228	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	155	cd05045	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	153	cd06635	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	219	pfam00069	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	154	cd07835	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	425	smart00219	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd07861	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	180	cd07830	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	284	pfam07714	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd06651	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	141	cd05074	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	155	cd05075	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	151	cd05035	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	151	cd05574	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	147	cd05089	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	168	cd07829	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	640	smart00221	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	250	cd05106	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	137	cd05079	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd05059	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	129	cd05113	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	128	cd05112	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	128	cd05114	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	135	cd05080	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	136	cd05081	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	166	cd05033	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd05066	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	156	cd05038	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	152	cd05088	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	128	cd05083	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	159	cd07866	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd06615	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	132	cd07873	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	133	cd06617	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	182	cd05580	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	138	cd06917	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	151	cd06609	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	138	cd06621	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd07847	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	129	cd08218	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	132	cd07872	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	176	cd06623	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	144	cd06619	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	146	cd06605	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	137	cd05108	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	585	COG0515	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	129	cd05612	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	131	cd07871	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	190	cd05057	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	137	cd05111	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	124	cd05579	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	130	cd08221	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	369	cd00180	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	196	cd05572	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	644	cd05123	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	125	cd05608	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	128	cd05577	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	137	cd05110	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd06625	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	123	cd05115	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	139	cd07863	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	430	smart00220	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	137	cd05109	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	134	cd05065	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	131	cd07870	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	191311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191311	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	OMIM	132	cd07844	62420884,NP_006173|62420886,NP_001014796
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	267	cd05091	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	270	cd05048	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	267	cd05090	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	265	cd05092	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	270	cd06611	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	282	cd05097	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	318	cd05096	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	276	cd05050	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	330	cd05046	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	278	cd05049	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	293	cd05095	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	337	cd05051	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	263	cd05093	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	326	cd05094	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	250	cd05064	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	252	cd05063	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	245	cd05577	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	240	cd05608	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	288	cd05043	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	384	cd05105	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	386	cd05107	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	368	cd05104	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	244	cd05605	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	240	cd05589	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	1194	smart00220	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	249	cd08229	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	338	cd07866	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	366	cd05106	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	296	cd05118	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	356	cd07833	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	515	cd05581	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	387	cd07840	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	292	cd07846	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	251	cd06625	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	272	cd07835	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	264	cd05088	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	241	cd06642	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	241	cd06640	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	241	cd06641	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	257	cd06644	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	250	cd08529	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	249	cd08530	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	254	cd08221	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	238	cd05083	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	244	cd05070	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	248	cd05039	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	245	cd05072	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	280	cd05148	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	240	cd05082	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	257	cd05034	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	245	cd05073	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	270	cd05067	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	250	cd05068	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	244	cd05069	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	291	cd07864	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	263	cd05061	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	281	cd05056	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	259	cd05089	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	244	cd05071	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	265	cd05036	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	262	cd05062	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	311	cd05032	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	246	cd05052	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	303	cd07852	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	253	cd07839	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	278	cd05100	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	294	cd05053	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	277	cd05099	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	257	cd06628	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	270	cd06618	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	311	cd07851	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	249	cd06651	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	277	cd06610	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	383	cd05055	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	252	cd05110	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	252	cd05109	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	446	cd07834	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	252	cd06631	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	323	cd08215	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	268	cd06632	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	288	cd06627	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	415	cd06606	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	299	cd07832	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	339	cd05122	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	315	cd07857	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	322	cd07841	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	253	cd06630	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	250	cd08220	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	270	cd05045	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	249	cd07871	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	325	cd07845	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	257	cd06637	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	240	cd08219	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	296	cd06614	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	281	cd05037	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	293	cd06626	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	251	cd08224	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	314	cd08217	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	250	cd05058	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	507	cd00192	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	239	cd05116	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	246	cd05060	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	239	cd05041	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	259	cd05087	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	254	cd05086	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	260	cd05044	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	258	cd05042	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	236	cd05085	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	237	cd05084	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	256	cd05040	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	235	cd05619	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	251	cd05592	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	269	cd06622	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	259	cd06648	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	246	cd08222	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	249	cd08228	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	243	cd05113	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	242	cd05112	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	242	cd05114	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	252	cd05108	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	265	cd05080	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	252	cd05111	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	250	cd05066	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	313	cd05038	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	286	cd05033	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	267	cd05079	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	267	cd05081	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	252	cd05065	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	280	cd05101	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	271	cd06619	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	259	cd06659	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	273	cd07854	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	454	pfam00069	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	381	cd07830	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	469	pfam07714	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	687	smart00219	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	350	cd07829	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	244	cd05059	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	270	cd05075	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	256	cd05074	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	267	cd05035	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	283	cd05098	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	306	cd05057	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	322	cd05102	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	324	cd05103	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	373	cd05054	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	246	cd05078	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	267	cd06616	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	246	cd05570	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	295	cd06608	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	264	cd06612	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	253	cd06613	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	248	cd05077	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	258	cd06917	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	848	cd00180	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	909	cd05123	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	239	cd05115	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	252	cd05047	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	268	cd05578	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	254	cd06617	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	326	cd06605	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	1170	COG0515	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	326	cd06623	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	280	cd06609	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	253	smart00750	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	191306.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	262	cd06629	11321597,NP_002244
3791	9087218	Disease	p.Cys482Arg	191306.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191306	HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	11321597,NP_002244
640	158936749	Disease	p.Ala71Thr	191305.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191305	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11	OMIM	17	smart00326	33469982,NP_001706
640	158936749	Disease	p.Ala71Thr	191305.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191305	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11	OMIM	8	pfam00018	33469982,NP_001706
640	158936749	Disease	p.Ala71Thr	191305.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191305	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11	OMIM	10	cd00174	33469982,NP_001706
640	158936749	Disease	p.Ala71Thr	191305.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191305	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11	OMIM	10	pfam07653	33469982,NP_001706
7054	88900503	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	248	cd03345	NULL
7054	88900503	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	251	COG3186	NULL
7054	88900503	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	278	cd00361	NULL
7054	88900503	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	249	pfam00351	NULL
7054	88900503	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	262	cd03346	NULL
7054	88900503	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	253	cd03347	NULL
7054	88900503	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	227	cd03348	NULL
7054	88900505	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	199	cd03348	NULL
7054	88900505	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	221	cd03345	NULL
7054	88900505	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	222	pfam00351	NULL
7054	88900505	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	226	cd03347	NULL
7054	88900505	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	235	cd03346	NULL
7054	88900505	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	223	COG3186	NULL
7054	88900505	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	250	cd00361	NULL
7054	239938945	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	233	cd00361	88900501,NP_954986
7054	239938945	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	194	cd03348	88900501,NP_954986
7054	239938945	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	218	COG3186	88900501,NP_954986
7054	239938945	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	217	cd03345	88900501,NP_954986
7054	239938945	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	218	pfam00351	88900501,NP_954986
7054	239938945	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	218	cd03346	88900501,NP_954986
7054	239938945	Disease	p.Gln412Lys	191290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	222	cd03347	88900501,NP_954986
7054	88900503	Disease	p.Leu236Pro	191290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	72	cd03345	NULL
7054	88900503	Disease	p.Leu236Pro	191290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	61	COG3186	NULL
7054	88900503	Disease	p.Leu236Pro	191290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	17	cd00361	NULL
7054	88900503	Disease	p.Leu236Pro	191290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	73	pfam00351	NULL
7054	88900503	Disease	p.Leu236Pro	191290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	73	cd03346	NULL
7054	88900503	Disease	p.Leu236Pro	191290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	77	cd03347	NULL
7054	88900503	Disease	p.Leu236Pro	191290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	23	cd03348	NULL
7054	88900505	Disease	p.Leu236Pro	191290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	45	cd03345	NULL
7054	88900505	Disease	p.Leu236Pro	191290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	46	pfam00351	NULL
7054	88900505	Disease	p.Leu236Pro	191290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	50	cd03347	NULL
7054	88900505	Disease	p.Leu236Pro	191290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	46	cd03346	NULL
7054	88900505	Disease	p.Leu236Pro	191290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	25	COG3186	NULL
7054	239938945	Disease	p.Leu236Pro	191290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	21	COG3186	88900501,NP_954986
7054	239938945	Disease	p.Leu236Pro	191290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	41	cd03345	88900501,NP_954986
7054	239938945	Disease	p.Leu236Pro	191290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	42	pfam00351	88900501,NP_954986
7054	239938945	Disease	p.Leu236Pro	191290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	42	cd03346	88900501,NP_954986
7054	239938945	Disease	p.Leu236Pro	191290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	46	cd03347	88900501,NP_954986
7054	88900503	Disease	p.Arg233His	191290.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	69	cd03345	NULL
7054	88900503	Disease	p.Arg233His	191290.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	58	COG3186	NULL
7054	88900503	Disease	p.Arg233His	191290.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	14	cd00361	NULL
7054	88900503	Disease	p.Arg233His	191290.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	70	pfam00351	NULL
7054	88900503	Disease	p.Arg233His	191290.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	70	cd03346	NULL
7054	88900503	Disease	p.Arg233His	191290.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	74	cd03347	NULL
7054	88900503	Disease	p.Arg233His	191290.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	20	cd03348	NULL
7054	88900505	Disease	p.Arg233His	191290.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	42	cd03345	NULL
7054	88900505	Disease	p.Arg233His	191290.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	43	pfam00351	NULL
7054	88900505	Disease	p.Arg233His	191290.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	47	cd03347	NULL
7054	88900505	Disease	p.Arg233His	191290.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	43	cd03346	NULL
7054	88900505	Disease	p.Arg233His	191290.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	22	COG3186	NULL
7054	239938945	Disease	p.Arg233His	191290.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	15	COG3186	88900501,NP_954986
7054	239938945	Disease	p.Arg233His	191290.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	38	cd03345	88900501,NP_954986
7054	239938945	Disease	p.Arg233His	191290.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	39	pfam00351	88900501,NP_954986
7054	239938945	Disease	p.Arg233His	191290.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	39	cd03346	88900501,NP_954986
7054	239938945	Disease	p.Arg233His	191290.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	43	cd03347	88900501,NP_954986
7054	88900503	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	173	cd03345	NULL
7054	88900503	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	158	COG3186	NULL
7054	88900503	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	144	cd00361	NULL
7054	88900503	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	174	pfam00351	NULL
7054	88900503	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	174	cd03346	NULL
7054	88900503	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	178	cd03347	NULL
7054	88900503	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	147	cd03348	NULL
7054	88900505	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	120	cd03348	NULL
7054	88900505	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	146	cd03345	NULL
7054	88900505	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	147	pfam00351	NULL
7054	88900505	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	151	cd03347	NULL
7054	88900505	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	147	cd03346	NULL
7054	88900505	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	131	COG3186	NULL
7054	88900505	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	117	cd00361	NULL
7054	239938945	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	113	cd00361	88900501,NP_954986
7054	239938945	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	116	cd03348	88900501,NP_954986
7054	239938945	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	127	COG3186	88900501,NP_954986
7054	239938945	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	142	cd03345	88900501,NP_954986
7054	239938945	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	143	pfam00351	88900501,NP_954986
7054	239938945	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	143	cd03346	88900501,NP_954986
7054	239938945	Disease	p.Arg337His	191290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	147	cd03347	88900501,NP_954986
7054	88900503	Disease	p.Thr494Met	191290.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
7054	88900505	Disease	p.Thr494Met	191290.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	304	pfam00351	NULL
7054	88900505	Disease	p.Thr494Met	191290.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	308	cd03347	NULL
7054	88900505	Disease	p.Thr494Met	191290.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	305	COG3186	NULL
7054	239938945	Disease	p.Thr494Met	191290.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	299	COG3186	88900501,NP_954986
7054	239938945	Disease	p.Thr494Met	191290.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	300	pfam00351	88900501,NP_954986
7054	239938945	Disease	p.Thr494Met	191290.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	304	cd03347	88900501,NP_954986
7054	88900503	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	112	cd03345	NULL
7054	88900503	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	97	COG3186	NULL
7054	88900503	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	57	cd00361	NULL
7054	88900503	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	113	pfam00351	NULL
7054	88900503	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	113	cd03346	NULL
7054	88900503	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	117	cd03347	NULL
7054	88900503	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	60	cd03348	NULL
7054	88900505	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	36	cd03348	NULL
7054	88900505	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	85	cd03345	NULL
7054	88900505	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	86	pfam00351	NULL
7054	88900505	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	90	cd03347	NULL
7054	88900505	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	86	cd03346	NULL
7054	88900505	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	74	COG3186	NULL
7054	88900505	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	30	cd00361	NULL
7054	239938945	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	26	cd00361	88900501,NP_954986
7054	239938945	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	32	cd03348	88900501,NP_954986
7054	239938945	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	70	COG3186	88900501,NP_954986
7054	239938945	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	81	cd03345	88900501,NP_954986
7054	239938945	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	82	pfam00351	88900501,NP_954986
7054	239938945	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	82	cd03346	88900501,NP_954986
7054	239938945	Disease	p.Thr276Pro	191290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	86	cd03347	88900501,NP_954986
7054	88900503	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	150	cd03345	NULL
7054	88900503	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	135	COG3186	NULL
7054	88900503	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	121	cd00361	NULL
7054	88900503	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	151	pfam00351	NULL
7054	88900503	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	151	cd03346	NULL
7054	88900503	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	155	cd03347	NULL
7054	88900503	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	124	cd03348	NULL
7054	88900505	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	71	cd03348	NULL
7054	88900505	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	123	cd03345	NULL
7054	88900505	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	124	pfam00351	NULL
7054	88900505	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	128	cd03347	NULL
7054	88900505	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	124	cd03346	NULL
7054	88900505	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	108	COG3186	NULL
7054	88900505	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	68	cd00361	NULL
7054	239938945	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	64	cd00361	88900501,NP_954986
7054	239938945	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	67	cd03348	88900501,NP_954986
7054	239938945	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	104	COG3186	88900501,NP_954986
7054	239938945	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	119	cd03345	88900501,NP_954986
7054	239938945	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	120	pfam00351	88900501,NP_954986
7054	239938945	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	120	cd03346	88900501,NP_954986
7054	239938945	Disease	p.Thr314Met	191290.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	124	cd03347	88900501,NP_954986
7054	88900503	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	195	cd03345	NULL
7054	88900503	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	180	COG3186	NULL
7054	88900503	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	166	cd00361	NULL
7054	88900503	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	196	pfam00351	NULL
7054	88900503	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	196	cd03346	NULL
7054	88900503	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	200	cd03347	NULL
7054	88900503	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	169	cd03348	NULL
7054	88900505	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	142	cd03348	NULL
7054	88900505	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	168	cd03345	NULL
7054	88900505	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	169	pfam00351	NULL
7054	88900505	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	173	cd03347	NULL
7054	88900505	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	169	cd03346	NULL
7054	88900505	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	153	COG3186	NULL
7054	88900505	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	139	cd00361	NULL
7054	239938945	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	135	cd00361	88900501,NP_954986
7054	239938945	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	138	cd03348	88900501,NP_954986
7054	239938945	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	149	COG3186	88900501,NP_954986
7054	239938945	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	164	cd03345	88900501,NP_954986
7054	239938945	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	165	pfam00351	88900501,NP_954986
7054	239938945	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	165	cd03346	88900501,NP_954986
7054	239938945	Disease	p.Cys359Phe	191290.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191290	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	OMIM	169	cd03347	88900501,NP_954986
7132	135959	Disease	p.Cys33Tyr	191190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	4507575,NP_001056
7132	135959	Disease	p.Thr50Met	191190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	9	smart00208	4507575,NP_001056
7132	135959	Disease	p.Thr50Met	191190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	9	pfam00020	4507575,NP_001056
7132	135959	Disease	p.Thr50Met	191190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	7	cd00185	4507575,NP_001056
7132	135959	Disease	p.Cys30Arg	191190.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	4507575,NP_001056
7132	135959	Disease	p.Cys52Phe	191190.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	11	smart00208	4507575,NP_001056
7132	135959	Disease	p.Cys52Phe	191190.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	11	pfam00020	4507575,NP_001056
7132	135959	Disease	p.Cys52Phe	191190.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	9	cd00185	4507575,NP_001056
7132	135959	Disease	p.Cys88Arg	191190.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	7	smart00208	4507575,NP_001056
7132	135959	Disease	p.Cys88Arg	191190.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	7	pfam00020	4507575,NP_001056
7132	135959	Disease	p.Cys88Arg	191190.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	51	cd00185	4507575,NP_001056
7132	135959	Disease	p.Cys88Tyr	191190.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	7	smart00208	4507575,NP_001056
7132	135959	Disease	p.Cys88Tyr	191190.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	7	pfam00020	4507575,NP_001056
7132	135959	Disease	p.Cys88Tyr	191190.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	51	cd00185	4507575,NP_001056
7132	135959	Disease	p.Arg92Pro	191190.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	11	smart00208	4507575,NP_001056
7132	135959	Disease	p.Arg92Pro	191190.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	11	pfam00020	4507575,NP_001056
7132	135959	Disease	p.Arg92Pro	191190.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	55	cd00185	4507575,NP_001056
7132	135959	Disease	p.Cys30Ser	191190.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	4507575,NP_001056
7132	135959	Disease	p.Cys33Gly	191190.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	4507575,NP_001056
7132	135959	Disease	p.Cys70Ser	191190.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	38	smart00208	4507575,NP_001056
7132	135959	Disease	p.Cys70Ser	191190.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	38	pfam00020	4507575,NP_001056
7132	135959	Disease	p.Cys70Ser	191190.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	29	cd00185	4507575,NP_001056
7132	135959	Disease	p.Cys55Ala	191190.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	14	smart00208	4507575,NP_001056
7132	135959	Disease	p.Cys55Ala	191190.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	16	pfam00020	4507575,NP_001056
7132	135959	Disease	p.Cys55Ala	191190.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191190	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	OMIM	12	cd00185	4507575,NP_001056
7157	187830909	Disease	p.Pro72Arg	191170.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	CODON 72 POLYMORPHISM, (rs1042522)	OMIM	113	pfam00870	NULL
7157	187830909	Disease	p.Pro72Arg	191170.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	CODON 72 POLYMORPHISM, (rs1042522)	OMIM	166	cd08367	NULL
7157	187830823	Disease	p.Pro72Arg	191170.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	CODON 72 POLYMORPHISM, (rs1042522)	OMIM	No Domain	N/A	NULL
7157	269849759	Disease	p.Pro72Arg	191170.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	CODON 72 POLYMORPHISM, (rs1042522)	OMIM	No Domain	N/A	187830777,NP_001119584|120407068,NP_000537
7157	187830901	Disease	p.Pro72Arg	191170.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	CODON 72 POLYMORPHISM, (rs1042522)	OMIM	113	pfam00870	NULL
7157	187830901	Disease	p.Pro72Arg	191170.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	CODON 72 POLYMORPHISM, (rs1042522)	OMIM	166	cd08367	NULL
7157	187830894	Disease	p.Pro72Arg	191170.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	CODON 72 POLYMORPHISM, (rs1042522)	OMIM	113	pfam00870	NULL
7157	187830894	Disease	p.Pro72Arg	191170.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	CODON 72 POLYMORPHISM, (rs1042522)	OMIM	166	cd08367	NULL
7157	187830855	Disease	p.Pro72Arg	191170.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	CODON 72 POLYMORPHISM, (rs1042522)	OMIM	No Domain	N/A	NULL
7157	269849759	Disease	p.Pro72Arg	191170.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	CODON 72 POLYMORPHISM, (rs1042522)	OMIM	No Domain	N/A	187830777,NP_001119584|120407068,NP_000537
7157	187830909	Disease	p.Cys242Tyr	191170.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	EPENDYMOMA, INTRACRANIAL	OMIM	No Domain	N/A	NULL
7157	187830823	Disease	p.Cys242Tyr	191170.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	EPENDYMOMA, INTRACRANIAL	OMIM	212	cd08367	NULL
7157	187830823	Disease	p.Cys242Tyr	191170.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	EPENDYMOMA, INTRACRANIAL	OMIM	151	pfam00870	NULL
7157	269849759	Disease	p.Cys242Tyr	191170.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	EPENDYMOMA, INTRACRANIAL	OMIM	212	cd08367	187830777,NP_001119584|120407068,NP_000537
7157	269849759	Disease	p.Cys242Tyr	191170.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	EPENDYMOMA, INTRACRANIAL	OMIM	151	pfam00870	187830777,NP_001119584|120407068,NP_000537
7157	187830901	Disease	p.Cys242Tyr	191170.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	EPENDYMOMA, INTRACRANIAL	OMIM	No Domain	N/A	NULL
7157	187830894	Disease	p.Cys242Tyr	191170.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	EPENDYMOMA, INTRACRANIAL	OMIM	No Domain	N/A	NULL
7157	187830855	Disease	p.Cys242Tyr	191170.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	EPENDYMOMA, INTRACRANIAL	OMIM	212	cd08367	NULL
7157	187830855	Disease	p.Cys242Tyr	191170.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	EPENDYMOMA, INTRACRANIAL	OMIM	151	pfam00870	NULL
7157	269849759	Disease	p.Cys242Tyr	191170.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	EPENDYMOMA, INTRACRANIAL	OMIM	212	cd08367	187830777,NP_001119584|120407068,NP_000537
7157	269849759	Disease	p.Cys242Tyr	191170.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	EPENDYMOMA, INTRACRANIAL	OMIM	151	pfam00870	187830777,NP_001119584|120407068,NP_000537
79742	193804856	Disease	p.Gly325Val	191170.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	MOVED TO 191170.0018	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Gly325Val	191170.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	MOVED TO 191170.0018	OMIM	No Domain	N/A	193804854,NP_789789
79742	193804856	Disease	p.Gly325Val	191170.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Gly325Val	191170.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191170	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
7124	135934	Disease	p.Leu29Ser	191160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191160	TNF RECEPTOR BINDING, ALTERED	OMIM	No Domain	N/A	25952111,NP_000585
7124	135934	Disease	p.Arg32Trp	191160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191160	TNF RECEPTOR BINDING, ALTERED	OMIM	No Domain	N/A	25952111,NP_000585
7249	269849475	Disease	p.Arg611Gln	191092.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2||LYMPHANGIOLEIOMYOMATOSIS, SOMATIC	OMIM	62	pfam03542	116256352,NP_000539
7249	167412124	Disease	p.Arg611Gln	191092.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2||LYMPHANGIOLEIOMYOMATOSIS, SOMATIC	OMIM	62	pfam03542	NULL
7249	116256350	Disease	p.Arg611Gln	191092.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2||LYMPHANGIOLEIOMYOMATOSIS, SOMATIC	OMIM	62	pfam03542	NULL
7249	269849475	Disease	p.Leu717Arg	191092.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2	OMIM	183	pfam03542	116256352,NP_000539
7249	167412124	Disease	p.Leu717Arg	191092.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2	OMIM	183	pfam03542	NULL
7249	116256350	Disease	p.Leu717Arg	191092.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2	OMIM	183	pfam03542	NULL
7249	269849475	Disease	p.Pro1675Leu	191092.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2	OMIM	246	pfam02145	116256352,NP_000539
7249	167412124	Disease	p.Pro1675Leu	191092.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2	OMIM	418	pfam02145	NULL
7249	116256350	Disease	p.Pro1675Leu	191092.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2	OMIM	484	pfam02145	NULL
7249	269849475	Disease	p.Gln1503Pro	191092.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2	OMIM	No Domain	N/A	116256352,NP_000539
7249	167412124	Disease	p.Gln1503Pro	191092.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2	OMIM	No Domain	N/A	NULL
7249	116256350	Disease	p.Gln1503Pro	191092.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2	OMIM	21	pfam02145	NULL
7249	269849475	Disease	p.Arg905Gln	191092.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2	OMIM	No Domain	N/A	116256352,NP_000539
7249	167412124	Disease	p.Arg905Gln	191092.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2	OMIM	No Domain	N/A	NULL
7249	116256350	Disease	p.Arg905Gln	191092.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2	OMIM	No Domain	N/A	NULL
7249	269849475	Disease	p.Arg905Trp	191092.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2	OMIM	No Domain	N/A	116256352,NP_000539
7249	167412124	Disease	p.Arg905Trp	191092.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2	OMIM	No Domain	N/A	NULL
7249	116256350	Disease	p.Arg905Trp	191092.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2	OMIM	No Domain	N/A	NULL
7249	269849475	Disease	p.Arg905Gly	191092.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2	OMIM	No Domain	N/A	116256352,NP_000539
7249	167412124	Disease	p.Arg905Gly	191092.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2	OMIM	No Domain	N/A	NULL
7249	116256350	Disease	p.Arg905Gly	191092.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191092	TUBEROUS SCLEROSIS 2	OMIM	No Domain	N/A	NULL
7139	48255883	Disease	p.Ile79Asn	191045.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2||CARDIOMYOPATHY, DILATED, 1D||CARDIOMYOPATHY, FAMILIAL, RESTRICTIVE, 3	OMIM	No Domain	N/A	NULL
7139	48255877	Disease	p.Ile79Asn	191045.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2||CARDIOMYOPATHY, DILATED, 1D||CARDIOMYOPATHY, FAMILIAL, RESTRICTIVE, 3	OMIM	No Domain	N/A	NULL
7139	48255879	Disease	p.Ile79Asn	191045.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2||CARDIOMYOPATHY, DILATED, 1D||CARDIOMYOPATHY, FAMILIAL, RESTRICTIVE, 3	OMIM	No Domain	N/A	NULL
7139	48255881	Disease	p.Ile79Asn	191045.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2||CARDIOMYOPATHY, DILATED, 1D||CARDIOMYOPATHY, FAMILIAL, RESTRICTIVE, 3	OMIM	No Domain	N/A	NULL
7139	48255883	Disease	p.Arg92Gln	191045.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2	OMIM	5	pfam00992	NULL
7139	48255877	Disease	p.Arg92Gln	191045.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2	OMIM	No Domain	N/A	NULL
7139	48255879	Disease	p.Arg92Gln	191045.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2	OMIM	No Domain	N/A	NULL
7139	48255881	Disease	p.Arg92Gln	191045.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2	OMIM	No Domain	N/A	NULL
7139	48255883	Disease	p.Arg278Cys	191045.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2	OMIM	No Domain	N/A	NULL
7139	48255877	Disease	p.Arg278Cys	191045.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2	OMIM	No Domain	N/A	NULL
7139	48255879	Disease	p.Arg278Cys	191045.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2	OMIM	No Domain	N/A	NULL
7139	48255881	Disease	p.Arg278Cys	191045.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2	OMIM	No Domain	N/A	NULL
7139	48255883	Disease	p.Phe110Ile	191045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2	OMIM	23	pfam00992	NULL
7139	48255877	Disease	p.Phe110Ile	191045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2	OMIM	8	pfam00992	NULL
7139	48255879	Disease	p.Phe110Ile	191045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2	OMIM	18	pfam00992	NULL
7139	48255881	Disease	p.Phe110Ile	191045.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2	OMIM	18	pfam00992	NULL
7139	48255883	Disease	p.Arg141Trp	191045.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, DILATED, 1D	OMIM	62	pfam00992	NULL
7139	48255877	Disease	p.Arg141Trp	191045.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, DILATED, 1D	OMIM	42	pfam00992	NULL
7139	48255879	Disease	p.Arg141Trp	191045.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, DILATED, 1D	OMIM	57	pfam00992	NULL
7139	48255881	Disease	p.Arg141Trp	191045.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, DILATED, 1D	OMIM	57	pfam00992	NULL
7139	48255883	Disease	p.Arg131Trp	191045.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, DILATED, 1D||LEFT VENTRICULAR NONCOMPACTION 6	OMIM	52	pfam00992	NULL
7139	48255877	Disease	p.Arg131Trp	191045.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, DILATED, 1D||LEFT VENTRICULAR NONCOMPACTION 6	OMIM	29	pfam00992	NULL
7139	48255879	Disease	p.Arg131Trp	191045.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, DILATED, 1D||LEFT VENTRICULAR NONCOMPACTION 6	OMIM	42	pfam00992	NULL
7139	48255881	Disease	p.Arg131Trp	191045.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, DILATED, 1D||LEFT VENTRICULAR NONCOMPACTION 6	OMIM	42	pfam00992	NULL
7139	48255883	Disease	p.Arg205Leu	191045.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, DILATED, 1D	OMIM	128	pfam00992	NULL
7139	48255877	Disease	p.Arg205Leu	191045.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, DILATED, 1D	OMIM	114	pfam00992	NULL
7139	48255879	Disease	p.Arg205Leu	191045.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, DILATED, 1D	OMIM	122	pfam00992	NULL
7139	48255881	Disease	p.Arg205Leu	191045.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, DILATED, 1D	OMIM	125	pfam00992	NULL
7139	48255883	Disease	p.Asp270Asn	191045.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, DILATED, 1D	OMIM	No Domain	N/A	NULL
7139	48255877	Disease	p.Asp270Asn	191045.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, DILATED, 1D	OMIM	No Domain	N/A	NULL
7139	48255879	Disease	p.Asp270Asn	191045.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, DILATED, 1D	OMIM	No Domain	N/A	NULL
7139	48255881	Disease	p.Asp270Asn	191045.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191045	CARDIOMYOPATHY, DILATED, 1D	OMIM	No Domain	N/A	NULL
7137	136213	Disease	p.Arg145Gly	191044.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191044	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7	OMIM	122	pfam00992	151101270,NP_000354
7137	136213	Disease	p.Lys206Gln	191044.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191044	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7	OMIM	No Domain	N/A	151101270,NP_000354
7137	136213	Disease	p.Pro82Ser	191044.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191044	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7	OMIM	37	pfam00992	151101270,NP_000354
7137	136213	Disease	p.Asp196Asn	191044.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191044	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7	OMIM	No Domain	N/A	151101270,NP_000354
7137	136213	Disease	p.Asp190Gly	191044.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191044	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7||CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1	OMIM	No Domain	N/A	151101270,NP_000354
7137	136213	Disease	p.Arg192His	191044.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191044	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1	OMIM	No Domain	N/A	151101270,NP_000354
7137	136213	Disease	p.Lys178Glu	191044.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191044	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1	OMIM	No Domain	N/A	151101270,NP_000354
7137	136213	Disease	p.Arg145Trp	191044.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191044	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1	OMIM	122	pfam00992	151101270,NP_000354
7137	136213	Disease	p.Leu144Gln	191044.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191044	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1	OMIM	121	pfam00992	151101270,NP_000354
7137	136213	Disease	p.Ala171Thr	191044.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191044	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1	OMIM	No Domain	N/A	151101270,NP_000354
7137	136213	Disease	p.Lys36Gln	191044.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191044	CARDIOMYOPATHY, DILATED, 1FF	OMIM	No Domain	N/A	151101270,NP_000354
7137	136213	Disease	p.Asn185Lys	191044.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191044	CARDIOMYOPATHY, DILATED, 1FF	OMIM	No Domain	N/A	151101270,NP_000354
7137	136213	Disease	p.Gly203Ser	191044.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191044	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7	OMIM	No Domain	N/A	151101270,NP_000354
7137	136213	Disease	p.Arg21Cys	191044.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191044	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7	OMIM	32	pfam11636	151101270,NP_000354
7136	1351297	Disease	p.Arg174Gln	191043.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191043	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	No Domain	N/A	4507621,NP_003273|224967057,NP_001139301
7136	1351297	Disease	p.Arg174Gln	191043.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191043	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	No Domain	N/A	4507621,NP_003273|224967057,NP_001139301
7136	224967106	Disease	p.Arg174Gln	191043.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191043	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	No Domain	N/A	NULL
7137	136213	Disease	p.Gly159Asp	191040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191040	CARDIOMYOPATHY, DILATED, 1Z	OMIM	136	pfam00992	151101270,NP_000354
7137	136213	Disease	p.Leu29Gln	191040.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191040	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13	OMIM	41	pfam11636	151101270,NP_000354
7137	136213	Disease	p.Ala8Val	191040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191040	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13	OMIM	8	pfam11636	151101270,NP_000354
7137	136213	Disease	p.Cys84Tyr	191040.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191040	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13	OMIM	42	pfam00992	151101270,NP_000354
7137	136213	Disease	p.Asp145Glu	191040.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191040	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13	OMIM	122	pfam00992	151101270,NP_000354
7170	114155140	Disease	p.Met9Arg	191030.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	NEMALINE MYOPATHY 1	OMIM	No Domain	N/A	NULL
7170	114155144	Disease	p.Met9Arg	191030.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	NEMALINE MYOPATHY 1	OMIM	No Domain	N/A	NULL
7170	24119203	Disease	p.Met9Arg	191030.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	NEMALINE MYOPATHY 1	OMIM	No Domain	N/A	NULL
7170	114155146	Disease	p.Met9Arg	191030.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	NEMALINE MYOPATHY 1	OMIM	No Domain	N/A	NULL
7170	114155148	Disease	p.Met9Arg	191030.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	NEMALINE MYOPATHY 1	OMIM	No Domain	N/A	NULL
7170	114155140	Disease	p.Arg168His	191030.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	NEMALINE MYOPATHY 1||MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION||CAP MYOPATHY, TPM3-RELATED	OMIM	121	pfam00261	NULL
7170	114155144	Disease	p.Arg168His	191030.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	NEMALINE MYOPATHY 1||MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION||CAP MYOPATHY, TPM3-RELATED	OMIM	158	pfam00261	NULL
7170	24119203	Disease	p.Arg168His	191030.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	NEMALINE MYOPATHY 1||MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION||CAP MYOPATHY, TPM3-RELATED	OMIM	158	pfam00261	NULL
7170	114155146	Disease	p.Arg168His	191030.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	NEMALINE MYOPATHY 1||MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION||CAP MYOPATHY, TPM3-RELATED	OMIM	158	pfam00261	NULL
7170	114155148	Disease	p.Arg168His	191030.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	NEMALINE MYOPATHY 1||MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION||CAP MYOPATHY, TPM3-RELATED	OMIM	158	pfam00261	NULL
7170	114155140	Disease	p.Leu100Met	191030.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	52	pfam00261	NULL
7170	114155144	Disease	p.Leu100Met	191030.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	90	pfam00261	NULL
7170	24119203	Disease	p.Leu100Met	191030.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	90	pfam00261	NULL
7170	114155146	Disease	p.Leu100Met	191030.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	90	pfam00261	NULL
7170	114155148	Disease	p.Leu100Met	191030.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	90	pfam00261	NULL
7170	114155140	Disease	p.Arg168Gly	191030.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	121	pfam00261	NULL
7170	114155144	Disease	p.Arg168Gly	191030.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	158	pfam00261	NULL
7170	24119203	Disease	p.Arg168Gly	191030.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	158	pfam00261	NULL
7170	114155146	Disease	p.Arg168Gly	191030.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	158	pfam00261	NULL
7170	114155148	Disease	p.Arg168Gly	191030.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	158	pfam00261	NULL
7170	114155140	Disease	p.Arg168Cys	191030.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION||CAP MYOPATHY, TPM3-RELATED	OMIM	121	pfam00261	NULL
7170	114155144	Disease	p.Arg168Cys	191030.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION||CAP MYOPATHY, TPM3-RELATED	OMIM	158	pfam00261	NULL
7170	24119203	Disease	p.Arg168Cys	191030.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION||CAP MYOPATHY, TPM3-RELATED	OMIM	158	pfam00261	NULL
7170	114155146	Disease	p.Arg168Cys	191030.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION||CAP MYOPATHY, TPM3-RELATED	OMIM	158	pfam00261	NULL
7170	114155148	Disease	p.Arg168Cys	191030.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191030	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION||CAP MYOPATHY, TPM3-RELATED	OMIM	158	pfam00261	NULL
7168	63252902	Disease	p.Glu180Gly	191010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	134	pfam00261	NULL
7168	63252906	Disease	p.Glu180Gly	191010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	134	pfam00261	NULL
7168	27597085	Disease	p.Glu180Gly	191010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	134	pfam00261	NULL
7168	63252904	Disease	p.Glu180Gly	191010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	170	pfam00261	NULL
7168	63252896	Disease	p.Glu180Gly	191010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	134	pfam00261	NULL
7168	136092	Disease	p.Glu180Gly	191010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	134	pfam00261	63252898,NP_001018005
7168	63252900	Disease	p.Glu180Gly	191010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	134	pfam00261	NULL
7168	63252902	Disease	p.Asp175Asn	191010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	129	pfam00261	NULL
7168	63252906	Disease	p.Asp175Asn	191010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	129	pfam00261	NULL
7168	27597085	Disease	p.Asp175Asn	191010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	129	pfam00261	NULL
7168	63252904	Disease	p.Asp175Asn	191010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	165	pfam00261	NULL
7168	63252896	Disease	p.Asp175Asn	191010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	129	pfam00261	NULL
7168	136092	Disease	p.Asp175Asn	191010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	129	pfam00261	63252898,NP_001018005
7168	63252900	Disease	p.Asp175Asn	191010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	129	pfam00261	NULL
7168	63252902	Disease	p.Val95Ala	191010.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	48	pfam00261	NULL
7168	63252906	Disease	p.Val95Ala	191010.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	48	pfam00261	NULL
7168	27597085	Disease	p.Val95Ala	191010.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	48	pfam00261	NULL
7168	63252904	Disease	p.Val95Ala	191010.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	85	pfam00261	NULL
7168	63252896	Disease	p.Val95Ala	191010.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	48	pfam00261	NULL
7168	136092	Disease	p.Val95Ala	191010.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	48	pfam00261	63252898,NP_001018005
7168	63252900	Disease	p.Val95Ala	191010.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3	OMIM	48	pfam00261	NULL
7168	63252902	Disease	p.Glu54Lys	191010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, DILATED, 1Y	OMIM	7	pfam00261	NULL
7168	63252906	Disease	p.Glu54Lys	191010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, DILATED, 1Y	OMIM	7	pfam00261	NULL
7168	27597085	Disease	p.Glu54Lys	191010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, DILATED, 1Y	OMIM	7	pfam00261	NULL
7168	63252904	Disease	p.Glu54Lys	191010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, DILATED, 1Y	OMIM	43	pfam00261	NULL
7168	63252896	Disease	p.Glu54Lys	191010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, DILATED, 1Y	OMIM	7	pfam00261	NULL
7168	136092	Disease	p.Glu54Lys	191010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, DILATED, 1Y	OMIM	7	pfam00261	63252898,NP_001018005
7168	63252900	Disease	p.Glu54Lys	191010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, DILATED, 1Y	OMIM	7	pfam00261	NULL
7168	63252902	Disease	p.Glu40Lys	191010.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, DILATED, 1Y	OMIM	No Domain	N/A	NULL
7168	63252906	Disease	p.Glu40Lys	191010.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, DILATED, 1Y	OMIM	No Domain	N/A	NULL
7168	27597085	Disease	p.Glu40Lys	191010.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, DILATED, 1Y	OMIM	No Domain	N/A	NULL
7168	63252904	Disease	p.Glu40Lys	191010.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, DILATED, 1Y	OMIM	29	pfam00261	NULL
7168	63252896	Disease	p.Glu40Lys	191010.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, DILATED, 1Y	OMIM	No Domain	N/A	NULL
7168	136092	Disease	p.Glu40Lys	191010.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, DILATED, 1Y	OMIM	No Domain	N/A	63252898,NP_001018005
7168	63252900	Disease	p.Glu40Lys	191010.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191010	CARDIOMYOPATHY, DILATED, 1Y	OMIM	No Domain	N/A	NULL
7169	136090	Disease	p.Arg91Gly	190990.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190990	ARTHROGRYPOSIS, DISTAL, TYPE 1	OMIM	44	pfam00261	42476296,NP_003280
7169	47519616	Disease	p.Arg91Gly	190990.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190990	ARTHROGRYPOSIS, DISTAL, TYPE 1	OMIM	44	pfam00261	NULL
7169	136090	Disease	p.Gln147Pro	190990.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190990	NEMALINE MYOPATHY 4	OMIM	101	pfam00261	42476296,NP_003280
7169	47519616	Disease	p.Gln147Pro	190990.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190990	NEMALINE MYOPATHY 4	OMIM	101	pfam00261	NULL
7169	136090	Disease	p.Glu117Lys	190990.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190990	NEMALINE MYOPATHY 4	OMIM	70	pfam00261	42476296,NP_003280
7169	47519616	Disease	p.Glu117Lys	190990.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190990	NEMALINE MYOPATHY 4	OMIM	70	pfam00261	NULL
7169	136090	Disease	p.Arg133Trp	190990.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190990	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	87	pfam00261	42476296,NP_003280
7169	47519616	Disease	p.Arg133Trp	190990.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190990	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	87	pfam00261	NULL
7169	136090	Disease	p.Glu41Lys	190990.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190990	NEMALINE MYOPATHY 4	OMIM	No Domain	N/A	42476296,NP_003280
7169	47519616	Disease	p.Glu41Lys	190990.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190990	NEMALINE MYOPATHY 4	OMIM	No Domain	N/A	NULL
7169	136090	Disease	p.Asn202Lys	190990.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190990	CAP MYOPATHY, TPM2-RELATED	OMIM	156	pfam00261	42476296,NP_003280
7169	47519616	Disease	p.Asn202Lys	190990.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190990	CAP MYOPATHY, TPM2-RELATED	OMIM	156	pfam00261	NULL
7167	39932641	Disease	p.Glu104Asp	190450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY	OMIM	124	COG0149	4507645,NP_000356
7167	39932641	Disease	p.Glu104Asp	190450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY	OMIM	183	cd00311	4507645,NP_000356
7167	39932641	Disease	p.Glu104Asp	190450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY	OMIM	123	pfam00121	4507645,NP_000356
7167	226529917	Disease	p.Glu104Asp	190450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY	OMIM	108	cd00311	NULL
7167	226529917	Disease	p.Glu104Asp	190450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY	OMIM	84	pfam00121	NULL
7167	226529917	Disease	p.Glu104Asp	190450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY	OMIM	86	COG0149	NULL
7167	39932641	Disease	p.Gly122Arg	190450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE MANCHESTER||TPI-MANCHESTER	OMIM	142	COG0149	4507645,NP_000356
7167	39932641	Disease	p.Gly122Arg	190450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE MANCHESTER||TPI-MANCHESTER	OMIM	202	cd00311	4507645,NP_000356
7167	39932641	Disease	p.Gly122Arg	190450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE MANCHESTER||TPI-MANCHESTER	OMIM	144	pfam00121	4507645,NP_000356
7167	226529917	Disease	p.Gly122Arg	190450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE MANCHESTER||TPI-MANCHESTER	OMIM	151	cd00311	NULL
7167	226529917	Disease	p.Gly122Arg	190450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE MANCHESTER||TPI-MANCHESTER	OMIM	104	pfam00121	NULL
7167	226529917	Disease	p.Gly122Arg	190450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE MANCHESTER||TPI-MANCHESTER	OMIM	105	COG0149	NULL
7167	39932641	Disease	p.Phe240Leu	190450.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY||TPI-HUNGARY	OMIM	268	COG0149	4507645,NP_000356
7167	39932641	Disease	p.Phe240Leu	190450.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY||TPI-HUNGARY	OMIM	356	cd00311	4507645,NP_000356
7167	39932641	Disease	p.Phe240Leu	190450.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY||TPI-HUNGARY	OMIM	277	pfam00121	4507645,NP_000356
7167	226529917	Disease	p.Phe240Leu	190450.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY||TPI-HUNGARY	OMIM	311	cd00311	NULL
7167	226529917	Disease	p.Phe240Leu	190450.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY||TPI-HUNGARY	OMIM	240	pfam00121	NULL
7167	226529917	Disease	p.Phe240Leu	190450.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY||TPI-HUNGARY	OMIM	230	COG0149	NULL
7167	39932641	Disease	p.Cys41Tyr	190450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY	OMIM	51	COG0149	4507645,NP_000356
7167	39932641	Disease	p.Cys41Tyr	190450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY	OMIM	67	cd00311	4507645,NP_000356
7167	39932641	Disease	p.Cys41Tyr	190450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY	OMIM	47	pfam00121	4507645,NP_000356
7167	226529917	Disease	p.Cys41Tyr	190450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY	OMIM	No Domain	N/A	NULL
7167	39932641	Disease	p.Ile170Val	190450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY	OMIM	196	COG0149	4507645,NP_000356
7167	39932641	Disease	p.Ile170Val	190450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY	OMIM	277	cd00311	4507645,NP_000356
7167	39932641	Disease	p.Ile170Val	190450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY	OMIM	204	pfam00121	4507645,NP_000356
7167	226529917	Disease	p.Ile170Val	190450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY	OMIM	213	cd00311	NULL
7167	226529917	Disease	p.Ile170Val	190450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY	OMIM	156	pfam00121	NULL
7167	226529917	Disease	p.Ile170Val	190450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190450	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY	OMIM	154	COG0149	NULL
7051	57015359	Disease	p.Ser42Tyr	190195.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIS, LAMELLAR, 1	OMIM	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Arg142Cys	190195.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIS, LAMELLAR, 1||ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1	OMIM	43	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Arg323Gln	190195.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIS, LAMELLAR, 1	OMIM	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Arg141His	190195.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIS, LAMELLAR, 1||ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1	OMIM	42	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Arg142His	190195.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIS, LAMELLAR, 1	OMIM	43	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Val378Leu	190195.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1||ICHTHYOSIS, LAMELLAR, 1	OMIM	10	smart00460	4507475,NP_000350
7051	57015359	Disease	p.Val378Leu	190195.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1||ICHTHYOSIS, LAMELLAR, 1	OMIM	90	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Arg395Leu	190195.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1||ICHTHYOSIS, LAMELLAR, 1	OMIM	27	smart00460	4507475,NP_000350
7051	57015359	Disease	p.Arg395Leu	190195.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1||ICHTHYOSIS, LAMELLAR, 1	OMIM	108	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Val382Met	190195.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIS, LAMELLAR, 1, WITH SPARING OF LIMBS	OMIM	14	smart00460	4507475,NP_000350
7051	57015359	Disease	p.Val382Met	190195.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIS, LAMELLAR, 1, WITH SPARING OF LIMBS	OMIM	94	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Arg388His	190195.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1	OMIM	20	smart00460	4507475,NP_000350
7051	57015359	Disease	p.Arg388His	190195.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1	OMIM	100	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Asp490Gly	190195.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	SELF-HEALING COLLODION BABY	OMIM	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Gly278Arg	190195.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	SELF-HEALING COLLODION BABY||ICHTHYOSIS, LAMELLAR, 1	OMIM	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Gly392Asp	190195.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIS, LAMELLAR, 1	OMIM	24	smart00460	4507475,NP_000350
7051	57015359	Disease	p.Gly392Asp	190195.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIS, LAMELLAR, 1	OMIM	104	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Arg286Gln	190195.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIS, LAMELLAR, 1	OMIM	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Val518Met	190195.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIS, LAMELLAR, 1	OMIM	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Ser160Cys	190195.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIS, LAMELLAR, 1	OMIM	68	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Gly94Asp	190195.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIS, LAMELLAR, 1	OMIM	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Asn288Thr	190195.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIS, LAMELLAR, 1	OMIM	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Arg306Trp	190195.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIS, LAMELLAR, 1	OMIM	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Gly17Ser	190195.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190195	ICHTHYOSIS, LAMELLAR, 1	OMIM	No Domain	N/A	4507475,NP_000350
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	235	cd06632	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	249	cd06629	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	222	cd06917	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	256	cd06638	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	269	cd05038	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	212	cd05069	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	222	cd05148	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	255_G	cd05043	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	211_G	cd05071	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	253	cd05095	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	309	cd06608	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	242	cd05099	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	210_G	cd05112	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	214_G	cd05113	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	216	cd08229	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	210	cd06643	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	212	cd06611	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	239_G	cd08228	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	242	cd08224	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	233_G	cd05048	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	243	cd05049	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	248	cd05088	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	253	cd07864	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	248	cd05056	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	208	cd05052	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	213	cd05073	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	212	cd05070	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	202	cd05083	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	218	cd05068	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	211	cd05082	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	224	cd07844	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	248	cd05098	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	418	pfam07714	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	639	smart00219	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	373	pfam00069	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	968	smart00221	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	273	cd06623	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	242	cd07847	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	244	cd05050	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	308	cd06605	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	247	cd05089	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	235	cd06637	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	231	cd05079	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	218	cd05074	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	228	cd05035	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	222	cd05080	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	265	cd05039	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	221_G	cd05034	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	239	cd05118	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	267	cd07832	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	327	cd07830	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	763	cd05579	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	213	cd05060	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	802	cd00180	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	203	cd05607	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	825	cd05123	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	246	cd05033	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	239_G	cd05066	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	241_G	cd05065	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	243	cd06617	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	231_G	cd05036	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	255	cd06636	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	259	cd07851	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	223	cd06615	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	233	cd06628	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	258	cd06626	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	259_G	cd06614	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	214_G	cd06645	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	221_G	cd05109	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	236	cd06646	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	457	cd00192	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	231	cd05081	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	225	cd05044	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	214	cd05040	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	219	cd05087	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	235	cd05047	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	218	cd05058	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	245	cd05101	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	804	smart00220	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	267	cd06639	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	239	cd06625	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	226	cd06653	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	228	cd05091	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	429	cd06606	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	302	cd06627	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	340	cd07834	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	238	cd06651	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	222	cd05111	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	270	cd05057	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	258	cd06618	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	220	cd05063	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	276	cd05032	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	258	cd05053	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	223	cd06624	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	217	cd06644	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	297	cd05046	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	221	cd06648	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	328	cd07833	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	254	cd07846	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	303	cd07829	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	327	cd07840	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	214_G	cd06613	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	289	cd05122	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	228	cd05601	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	274	cd08215	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	246	cd07837	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	278	cd06612	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	291	cd06610	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	354	cd07838	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	305	cd08217	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	211_G	cd08530	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	502	cd05581	NULL
7048	67782326	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	277	cd07841	NULL
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	228	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	227	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	229	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	263	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	278	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	249	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	270_G	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	221	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	233	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	227_G	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	271	cd06615	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	261	cd08228	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	236	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	227_G	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	226	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	235	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	265	cd08224	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	233	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	243	cd06645	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	266	cd06646	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	240	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	392	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	236	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	318	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	327	cd08217	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	305	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	306	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	271	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	347_G	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	276_G	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	337	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	236	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	251_G	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	276	cd06617	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	269	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	258	cd05066	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	247	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	266	cd05065	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	280_G	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	284	cd06638	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	453_G	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	670	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	398	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	250	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	239	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	249	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	251	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	298	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	272	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	259	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	271	cd05089	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	270	cd06637	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	1069	smart00221	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	240	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	339	cd06605	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	242_G	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	312	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	240	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	275	cd05088	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	265_G	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	253	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	238_G	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	300_G	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	283	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	238_G	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	292_G	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	267_G	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	228	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	877	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	283	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	286	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	364	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	791	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	231_G	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	827	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	250	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	236_G	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	243	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	241_G	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	243	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	489	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	263	cd05047	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	289	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	280	cd06636	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	242	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	241	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	276	cd06629	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	255	cd06632	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	277	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	262	cd06651	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	372	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	264	cd06625	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	251	cd06653	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	250	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	1018	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	295	cd06639	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	276	cd06626	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	258	cd06628	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	265	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	227	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	300_G	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	227	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	273	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	246	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Gln508Gln	190182.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	279_G	cd05043	67782324,NP_003233
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	40	cd06632	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	41	cd06629	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	42	cd06917	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	57	cd06638	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	47	cd05038	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	47	cd05069	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	43	cd05148	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	59	cd05043	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	42	cd05071	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	59	cd05095	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	44	cd06608	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	54	cd05099	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	45	cd05112	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	40	cd05113	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	39	cd08229	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	45	cd06643	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	46	cd06611	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	39	cd08228	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	40	cd08224	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	46	cd05048	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	45	cd05049	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	44	cd05088	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	47	cd07864	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	70	cd05056	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	43	cd05052	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	42	cd05073	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	46_G	cd05070	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	41	cd05083	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	42	cd05068	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	41	cd05082	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	44	cd07844	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	60	cd05098	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	63	pfam07714	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	171	smart00219	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	47	pfam00069	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	173	smart00221	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	41_G	cd06623	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	37	cd07847	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	45	cd05050	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	38	cd06605	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	39	cd05089	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	45	cd06637	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	45	cd05079	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	39	cd05074	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	49	cd05035	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	45	cd05080	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	41	cd05039	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	39	cd05034	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	36	cd05118	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	39	cd07832	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	68	cd07830	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	30	cd05579	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	39	cd05060	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	70	cd00180	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	33	cd05607	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	65	cd05123	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	70	cd05033	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	43	cd05066	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	43	cd05065	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	37_G	cd06617	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	46	cd05036	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	55	cd06636	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	63	cd07851	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	40	cd06628	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	38	cd06626	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	62	cd06614	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	49	cd06645	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	46	cd05109	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	46	cd06646	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	77	cd00192	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	45	cd05081	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	42	cd05044	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	36	cd05040	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	32	cd05087	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	32	cd05047	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	46	cd05058	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	57	cd05101	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	94	smart00220	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	59	cd06639	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	47	cd06625	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	39	cd06653	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	47	cd05091	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	50	cd06606	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	38	cd06627	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	56	cd07834	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	42	cd06651	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	46	cd05111	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	68	cd05057	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	52	cd06618	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	45	cd05063	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	77	cd05032	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	54	cd05053	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	46	cd06624	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	52	cd06644	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	109	cd05046	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	20	cd06648	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	40	cd07833	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	38	cd07846	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	45	cd07829	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	60	cd07840	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	45	cd06613	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	52	cd05122	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	44	cd05601	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	40	cd08215	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	41	cd07837	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	47	cd06612	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	39	cd06610	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	54	cd07838	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	37	cd08217	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	42	cd08530	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	92	cd05581	NULL
7048	67782326	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	40	cd07841	NULL
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	66	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	67	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	68	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	102	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	72	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	69	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	90	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	65	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	67	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	65	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	68	cd08228	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	68	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	65	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	65	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	70	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	69	cd08224	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	68	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	72	cd06645	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	72	cd06646	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	70	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	92	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	68	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	82	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	65	cd08217	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	76	cd06612	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	67	cd06610	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	79	cd07838	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	78_G	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	84	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	67	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	87	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	67	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	74	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	66	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	67	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	119	cd05581	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	66	cd06617	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	95	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	70_G	cd05066	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	75	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	71	cd05065	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	94	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	81	cd06638	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	101	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	220	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	102	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	72	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	67	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	77	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	72	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	56	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	66	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	74	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	69	cd05089	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	69	cd06637	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	298	smart00221	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	67	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	69	cd05039	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	67	cd06605	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	71	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	134	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	75	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	74	cd05088	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	74	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	75	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	72_G	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	106	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	80	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	75	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	111	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	87	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	59	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	100	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	68	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	72	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	99	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	72	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	67	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	73	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	69	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	65	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	69	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	61	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	117	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	62	cd05047	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	87	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	79	cd06636	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	82	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	74	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	74	cd06629	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	75	cd06632	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	84	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	70	cd06651	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	98	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	70	cd06625	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	70	cd06653	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	130	cd06606	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	70	cd06627	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	74	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	82	cd06639	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	68	cd06626	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	74	cd06628	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	84	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	69	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	76	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	94	cd06608	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	69	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	88	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	69	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	190182.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	89	cd05043	67782324,NP_003233
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188	cd06632	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179	cd06629	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179	cd06917	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	190	cd06638	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201	cd05038	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	169	cd05069	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	172	cd05148	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	213	cd05043	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	169	cd05071	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	209	cd05095	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	209	cd06608	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	202	cd05099	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	167	cd05112	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	168	cd05113	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	172	cd08229	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	169	cd06643	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	171	cd06611	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	172	cd08228	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	173	cd08224	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	195	cd05048	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	200	cd05049	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	189	cd05088	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	186	cd07864	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	205	cd05056	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	171	cd05052	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	170	cd05073	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	169	cd05070	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	163	cd05083	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	175	cd05068	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	165	cd05082	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	170	cd07844	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	208	cd05098	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	348	pfam07714	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	553	smart00219	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	295	pfam00069	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	769	smart00221	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	220	cd06623	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	173	cd07847	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201	cd05050	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	185	cd06605	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	184	cd05089	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	177	cd06637	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179	cd05079	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	181	cd05074	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	191	cd05035	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	177	cd05080	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	168	cd05039	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180	cd05034	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178	cd05118	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188	cd07832	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	241	cd07830	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	709	cd05579	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	171	cd05060	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	626	cd00180	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	160	cd05607	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	735	cd05123	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	211	cd05033	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	175	cd05066	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	177	cd05065	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	170	cd06617	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	190	cd05036	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	187	cd06636	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	200	cd07851	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	166	cd06615	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	182	cd06628	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201	cd06626	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	220	cd06614	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	172	cd06645	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	177	cd05109	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	172	cd06646	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	397	cd00192	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178	cd05081	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	185	cd05044	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179	cd05040	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	173	cd05087	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	177	cd05047	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	175	cd05058	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	205	cd05101	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	706	smart00220	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201	cd06639	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	175	cd06625	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	175	cd06653	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	192	cd05091	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	282	cd06606	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	209	cd06627	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	253	cd07834	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	175	cd06651	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	177	cd05111	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	231	cd05057	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	184	cd06618	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	177	cd05063	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	232	cd05032	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	218	cd05053	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180	cd06624	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	176	cd06644	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	253	cd05046	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	182	cd06648	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	214	cd07833	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	168	cd07846	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	220	cd07829	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	227	cd07840	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	169	cd06613	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	206	cd05122	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	170	cd05601	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	234	cd08215	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	185	cd07837	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	182	cd06612	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188	cd06610	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	215	cd07838	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	237	cd08217	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	174	cd08530	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	403	cd05581	NULL
7048	67782326	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	203	cd07841	NULL
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	189	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	190	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	224	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	206	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	190	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	227	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	182	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	194	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	184	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	185	cd06615	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	191	cd08228	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	191	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	186	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	187	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	195	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	192	cd08224	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	193	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	194	cd06645	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	197	cd06646	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	196	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	262	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	194	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	230	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	258	cd08217	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	205	cd06612	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	262	cd06610	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	293	cd07838	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	223	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	254	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	205	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	271	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	240	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	193	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	197	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	436	cd05581	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	193	cd06617	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	230	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	194	cd05066	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	209	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	196	cd05065	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	239	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	214	cd06638	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	382	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	574	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	337	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	197	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	200	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	210	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	195	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	244	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	199	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	220	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	203	cd05089	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201	cd06637	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	840	smart00221	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	199	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	191	cd05039	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	209	cd06605	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	194	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	272	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	200	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	208	cd05088	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	219	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	214	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	196	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	251	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	208	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	196	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	250	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	224	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	797	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	198	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	233	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	261	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	729	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	190	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	670	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	196	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	194	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	204	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	198	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	199	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	423	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	196	cd05047	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	221	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	211	cd06636	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	199	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201	cd06629	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	204	cd06632	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	237	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	194	cd06651	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	274	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	195	cd06625	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	194	cd06653	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	331	cd06606	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	230	cd06627	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	211	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	779	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	225	cd06639	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	232	cd06626	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201	cd06628	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	221	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	223	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	238	cd06608	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	228	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	191	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	190182.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	232	cd05043	67782324,NP_003233
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	259	cd06632	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	245	cd06917	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	300_G	cd05038	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	231	cd05069	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	250	cd05148	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	280	cd05043	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	231	cd05071	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	277	cd05095	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	269	cd05099	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	229	cd05112	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	230	cd05113	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	240	cd08229	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	237	cd06643	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	239	cd06611	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	265	cd08228	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	269	cd08224	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	257	cd05048	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	265_G	cd05049	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	279	cd05088	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	282	cd07864	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	267	cd05056	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	233	cd05052	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	232	cd05073	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	231	cd05070	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	225	cd05083	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	237	cd05068	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	227_G	cd05082	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	253	cd07844	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	273	cd05098	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	455	pfam07714	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	675	smart00219	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	441	pfam00069	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	1073	smart00221	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	313	cd06623	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	276	cd07847	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	263	cd05050	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	344	cd06605	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	275	cd05089	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	254	cd05079	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	243	cd05074	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	253	cd05035	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	255	cd05080	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	244	cd05034	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	287	cd05118	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	290	cd07832	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	368	cd07830	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	795	cd05579	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	233	cd05060	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	831	cd00180	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	232	cd05607	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	881	cd05123	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	273	cd05033	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	262	cd05066	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	283	cd06617	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	252	cd05036	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	293	cd07851	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	277	cd06615	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	262	cd06628	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	280	cd06626	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	283	cd06614	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	247	cd06645	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	244	cd05109	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	493	cd00192	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	254	cd05081	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	247	cd05044	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	243	cd05040	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	247	cd05087	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	267	cd05047	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	237	cd05058	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	270	cd05101	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	1175	smart00220	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	255	cd06653	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	254	cd05091	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	376	cd07834	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	242	cd05111	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	296	cd05057	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	286_G	cd06618	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	239	cd05063	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	300_G	cd05032	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	281	cd05053	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	245	cd06624	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	244	cd06644	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	317	cd05046	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	246	cd06648	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	347_G	cd07833	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	279	cd07846	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	341	cd07829	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	396	cd07840	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	240	cd06613	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	322	cd05122	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	252	cd05601	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	310	cd08215	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	275	cd07837	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	240	cd08530	NULL
7048	67782326	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	309	cd07841	NULL
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	260	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	259	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	258	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	293	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	304	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	276	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	292_G	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	250	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	262	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	252	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	303	cd06615	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	261	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	254	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	255	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	264	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	263	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	261	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	419	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	267	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	353	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	335	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	335	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	300	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	369	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	305	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	363	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	260_G	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	274	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	298	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	277	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	321	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	484	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	703	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	471	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	279	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	268	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	279	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	277	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	346	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	301	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	288	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	269	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	271	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	342	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	270	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	297	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	282	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	264	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	323	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	311	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	264	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	318	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	289_G	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	256	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	924	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	309	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	313	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	395	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	826	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	258	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	867	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	279	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	262	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	272	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	268	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	271	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	522	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	349	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	268_G	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	280	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	299_G	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	477	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	279	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	1247	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	289	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	259	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	325	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	259	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	305	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	292	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	190182.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	304	cd05043	67782324,NP_003233
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	78	cd06632	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	77	cd06629	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	77	cd06917	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	84	cd06638	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	80	cd05038	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	72	cd05069	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	71_G	cd05148	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	91_G	cd05043	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	72	cd05071	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	91	cd05095	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	97	cd06608	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	87	cd05099	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	68	cd05112	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	68	cd05113	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	71	cd08229	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	71	cd06643	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	73	cd06611	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	71	cd08228	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	72	cd08224	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	78	cd05048	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	77	cd05049	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	77	cd05088	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	82	cd07864	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	105	cd05056	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	71	cd05052	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	69	cd05073	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	70	cd05070	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	67_G	cd05083	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	70	cd05068	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	69	cd05082	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	72	cd07844	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	93	cd05098	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	104	pfam07714	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	225	smart00219	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	105	pfam00069	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	302	smart00221	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	59	cd06623	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	69	cd07847	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	76_G	cd05050	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	70	cd06605	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	72	cd05089	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	72	cd06637	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	75	cd05079	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	70	cd05074	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	80	cd05035	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	75	cd05080	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	71_G	cd05039	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	73	cd05034	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	71	cd05118	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	75	cd07832	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	99_G	cd07830	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	75	cd05579	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	72	cd05060	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	181	cd00180	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	62	cd05607	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	103	cd05123	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	98	cd05033	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	70_G	cd05066	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	74	cd05065	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	80	cd06617	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	78	cd05036	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	82	cd06636	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90	cd07851	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	3	cd06615	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	77	cd06628	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	71	cd06626	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	97	cd06614	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	75	cd06645	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	73	cd05109	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	75	cd06646	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	120	cd00192	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	76	cd05081	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	67_G	cd05044	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	73	cd05040	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	62_G	cd05087	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	65	cd05047	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	72	cd05058	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90	cd05101	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	218	smart00220	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	85	cd06639	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	73	cd06625	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	73	cd06653	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	77	cd05091	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	133	cd06606	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	73	cd06627	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	101	cd07834	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	73	cd06651	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	78	cd05111	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	114	cd05057	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	83	cd06618	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	72_G	cd05063	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	111	cd05032	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	86_G	cd05053	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	74	cd06624	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	78	cd06644	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	136_G	cd05046	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	85	cd06648	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90	cd07833	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	70	cd07846	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	77	cd07829	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	96	cd07840	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	71	cd06613	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	85	cd05122	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	70	cd05601	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	87	cd08215	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	70	cd07837	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	79	cd06612	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	70	cd06610	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	82	cd07838	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	68	cd08217	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	68_G	cd08530	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	122	cd05581	NULL
7048	67782326	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	78_G	cd07841	NULL
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	91	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	92	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	125	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	109	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	92	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	114	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	88	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	91	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	80	cd06615	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	96	cd08228	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	96	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	89	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	89	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	94	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	93	cd08224	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	92	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	97	cd06645	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	97	cd06646	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	98	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	124	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	103	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	114	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	91	cd08217	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	96_G	cd06612	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	91	cd06610	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	113	cd07838	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	96	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	116	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	102	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	111	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	91	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	116	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	92	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	91	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	142	cd05581	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	94	cd06617	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	119	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	95	cd05066	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	99	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	95	cd05065	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	120	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	110	cd06638	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	144	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	255	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	151	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	98	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	97	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	107	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	98	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	114	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	98	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	93	cd05089	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	99	cd06637	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	385	smart00221	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	91	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	94	cd05039	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	94	cd06605	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	100	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	183	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	99	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	98	cd05088	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	100	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	99	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	97	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	132	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	103	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	98	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	148	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	111	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	82	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	126	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	97	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	102	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	130	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	96	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	288	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	97	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	94	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	89	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	100	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	85	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	152	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	86	cd05047	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	119	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	109	cd06636	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	106	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	110	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	110	cd06629	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	109	cd06632	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	108	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	96	cd06651	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	147	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	96	cd06625	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	96	cd06653	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	165	cd06606	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	95	cd06627	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	98	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	318	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	121	cd06639	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	102	cd06626	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	98	cd06628	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	108	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	108	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	139	cd06608	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	112	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	93	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	190182.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	123	cd05043	67782324,NP_003233
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	103	cd06632	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	104	cd06629	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	102	cd06917	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	104	cd06638	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	102	cd05038	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	84	cd05069	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	87	cd05148	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	117	cd05043	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	84	cd05071	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	106	cd05095	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	123	cd06608	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	102	cd05099	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	83	cd05112	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	83	cd05113	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90	cd08229	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	86	cd06643	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	88	cd06611	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90	cd08228	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	87	cd08224	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	93	cd05048	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	94	cd05049	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	92	cd05088	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	103	cd07864	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	119	cd05056	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	86	cd05052	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	85	cd05073	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	84	cd05070	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	82	cd05083	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	85	cd05068	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	84	cd05082	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	87	cd07844	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	108	cd05098	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	135	pfam07714	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	248	smart00219	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	140	pfam00069	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	376	smart00221	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	91	cd06623	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	84	cd07847	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	92	cd05050	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	88	cd06605	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	87	cd05089	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	93	cd06637	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	92	cd05079	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	91	cd05074	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	101	cd05035	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	92	cd05080	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	88	cd05039	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	85	cd05034	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	91	cd05118	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	96	cd07832	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	124	cd07830	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	89	cd05579	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	84	cd05060	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	251	cd00180	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	77	cd05607	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	120	cd05123	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	113	cd05033	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	89	cd05066	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	89	cd05065	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90_G	cd06617	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	93	cd05036	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	103	cd06636	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	114	cd07851	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	71	cd06615	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	92	cd06628	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	96	cd06626	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	114	cd06614	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90	cd06645	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	92	cd05109	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90	cd06646	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	146	cd00192	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	91	cd05081	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	83	cd05044	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	94	cd05040	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	79	cd05087	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	80	cd05047	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	88	cd05058	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	105	cd05101	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	309	smart00220	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	115	cd06639	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90	cd06625	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90	cd06653	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	92	cd05091	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	159	cd06606	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	89	cd06627	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	136	cd07834	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90	cd06651	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	92	cd05111	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	142	cd05057	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	97	cd06618	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	91	cd05063	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	126	cd05032	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	102	cd05053	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	93	cd06624	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	93	cd06644	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	175	cd05046	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	100	cd06648	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	106	cd07833	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	85	cd07846	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	111	cd07829	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	122_G	cd07840	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	96	cd06613	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	108	cd05122	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	85	cd05601	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	110	cd08215	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	96	cd07837	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	95	cd06612	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	85	cd06610	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	107	cd07838	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	85	cd08217	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	86	cd08530	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	136	cd05581	NULL
7048	67782326	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	87	cd07841	NULL
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	113	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	112	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	114	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	146	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	128	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	114	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	150	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	110	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	115	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	112	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	111	cd06615	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	116	cd08228	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	116	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	110	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	111	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	115	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	117	cd08224	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	113	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	116	cd06645	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	116	cd06646	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	119	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	159	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	113_G	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	143	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	119	cd08217	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	125	cd06612	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	122	cd06610	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	136	cd07838	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	127	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	148	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	128	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	132	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	111	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	150	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	116	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	109	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	226	cd05581	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	114	cd06617	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	143	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	112	cd05066	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	128	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	112	cd05065	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	160	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	135	cd06638	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	264	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	394	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	190	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	119	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	116	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	133	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	117	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	145	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	110	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	120	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	129	cd05089	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	121	cd06637	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	471	smart00221	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	113	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	116	cd05039	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	127	cd06605	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	123	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	196	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	120	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	134	cd05088	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	137	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	137	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	114	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	174	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	128	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	119	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	171	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	147	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	105	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	625	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	119	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	125	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	162	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	116_G	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	112	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	340	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	118	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	115	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	120	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	114	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	115	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	317	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	122	cd05047	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	144	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	131	cd06636	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	126	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	123_G	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	120	cd06629	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	129	cd06632	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	160	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	116	cd06651	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	153_G	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	116	cd06625	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	116	cd06653	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	190	cd06606	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	109	cd06627	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	134	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	378	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	146	cd06639	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	112	cd06626	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	118	cd06628	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	144	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	112	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	138	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	153	cd06608	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	112	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	151	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	115	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	190182.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	152	cd05043	67782324,NP_003233
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	105	cd06632	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	106	cd06629	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	106	cd06917	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	106	cd06638	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	104	cd05038	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	86	cd05069	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	89	cd05148	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	119	cd05043	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	86	cd05071	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	108	cd05095	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	132	cd06608	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	104	cd05099	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	85	cd05112	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	85	cd05113	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	92	cd08229	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	88	cd06643	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90	cd06611	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	92	cd08228	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	89	cd08224	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	95	cd05048	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	96	cd05049	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	94	cd05088	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	105	cd07864	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	121	cd05056	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	88	cd05052	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	87	cd05073	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	86	cd05070	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	84	cd05083	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	87	cd05068	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	86	cd05082	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	88	cd07844	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	110	cd05098	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	140	pfam07714	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	251	smart00219	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	147	pfam00069	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	381	smart00221	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	110	cd06623	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	86	cd07847	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	94	cd05050	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90	cd06605	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	89	cd05089	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	95	cd06637	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	94	cd05079	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	93	cd05074	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	103	cd05035	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	94	cd05080	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90	cd05039	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	87	cd05034	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	93	cd05118	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	98	cd07832	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	126	cd07830	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	92	cd05579	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	86	cd05060	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	284	cd00180	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	79	cd05607	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	122	cd05123	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	115	cd05033	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	91	cd05066	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	91	cd05065	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90_G	cd06617	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	95	cd05036	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	105	cd06636	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	115	cd07851	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	73	cd06615	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	94	cd06628	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	98	cd06626	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	116	cd06614	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	92	cd06645	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	94	cd05109	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	92	cd06646	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	148	cd00192	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	93	cd05081	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	85	cd05044	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	96	cd05040	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	81	cd05087	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	82	cd05047	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	90	cd05058	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	107	cd05101	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	314	smart00220	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	117	cd06639	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	92	cd06625	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	92	cd06653	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	94	cd05091	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	161	cd06606	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	91	cd06627	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	139	cd07834	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	92	cd06651	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	94	cd05111	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	144	cd05057	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	99	cd06618	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	93	cd05063	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	128	cd05032	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	104	cd05053	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	96	cd06624	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	95	cd06644	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	177	cd05046	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	102	cd06648	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	107	cd07833	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	87	cd07846	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	112	cd07829	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	122_G	cd07840	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	99	cd06613	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	110	cd05122	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	87	cd05601	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	112	cd08215	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	98	cd07837	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	96_G	cd06612	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	87	cd06610	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	109	cd07838	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	87	cd08217	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	88	cd08530	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	138	cd05581	NULL
7048	67782326	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	89	cd07841	NULL
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	115	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	114	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	116	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	148	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	130	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	116	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	152	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	112	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	117	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	114	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	113	cd06615	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	118	cd08228	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	118	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	112	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	113	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	117	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	119	cd08224	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	115	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	118	cd06645	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	118	cd06646	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	121	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	161	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	115	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	145	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	120_G	cd08217	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	127	cd06612	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	124	cd06610	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	138	cd07838	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	129	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	150	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	130	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	134	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	113	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	152	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	118	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	111	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	228	cd05581	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	116	cd06617	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	145	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	114	cd05066	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	130	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	114	cd05065	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	162	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	136	cd06638	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	266	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	396	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	192	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	121	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	118	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	135	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	119	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	147	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	112	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	122	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	131	cd05089	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	123	cd06637	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	473	smart00221	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	115	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	118	cd05039	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	129	cd06605	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	125	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	198	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	122	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	136	cd05088	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	139	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	139	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	116	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	176	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	130	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	121	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	173	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	149	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	107	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	627	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	121	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	127	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	164	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	116_G	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	114	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	342	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	120	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	117	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	122	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	116	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	117	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	319	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	124	cd05047	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	146	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	133	cd06636	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	128	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	123_G	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	122	cd06629	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	131	cd06632	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	162	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	118	cd06651	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	155	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	118	cd06625	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	118	cd06653	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	192	cd06606	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	119	cd06627	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	136	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	380	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	147	cd06639	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	114	cd06626	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	120	cd06628	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	146	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	114	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	140	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	155	cd06608	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	114	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	153	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	117	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	190182.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	154	cd05043	67782324,NP_003233
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	251	cd06632	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	271	cd06629	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	236	cd06917	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	280	cd06638	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	300	cd05038	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	225_G	cd05069	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	237	cd05148	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	277	cd05043	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	226_G	cd05071	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	268	cd05095	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	260	cd05099	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	227_G	cd05112	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	221	cd05113	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	231	cd08229	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	228	cd06643	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	230	cd06611	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	256_G	cd08228	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	260	cd08224	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	250_G	cd05048	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	265	cd05049	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	270	cd05088	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	273	cd07864	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	261_G	cd05056	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	227_G	cd05052	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	225_G	cd05073	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	225_G	cd05070	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	219_G	cd05083	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	231_G	cd05068	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	227_G	cd05082	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	244	cd07844	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	266	cd05098	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	451	pfam07714	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	660	smart00219	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	393	pfam00069	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	988	smart00221	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	293	cd06623	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	264	cd07847	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	258_G	cd05050	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	335	cd06605	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	266	cd05089	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	266	cd06637	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	248_G	cd05079	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	237_G	cd05074	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	247_G	cd05035	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	246	cd05080	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	237_G	cd05034	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	258	cd05118	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	281	cd07832	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	359	cd07830	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	786	cd05579	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	231_G	cd05060	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	822	cd00180	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	223	cd05607	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	846	cd05123	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	267_G	cd05033	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	256	cd05066	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	261	cd05065	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	271	cd06617	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	246_G	cd05036	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	276	cd06636	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	284	cd07851	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	266	cd06615	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	253	cd06628	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	273_G	cd06626	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	277	cd06614	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	231	cd06645	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	235	cd05109	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	262	cd06646	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	483	cd00192	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	248_G	cd05081	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	241_G	cd05044	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	241_G	cd05040	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	238	cd05087	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	258	cd05047	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	233	cd05058	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	263	cd05101	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	945	smart00220	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	290	cd06639	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	260	cd06625	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	245	cd06653	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	246_G	cd05091	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	367	cd07834	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	258	cd06651	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	238	cd05111	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	292	cd05057	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	279	cd06618	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	238_G	cd05063	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	298	cd05032	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	275_G	cd05053	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	241	cd06624	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	235	cd06644	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	307_G	cd05046	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	237	cd06648	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	343	cd07833	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	276_G	cd07846	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	326	cd07829	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	380	cd07840	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	231	cd06613	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	313	cd05122	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	248	cd05601	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	301	cd08215	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	266	cd07837	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	323	cd08217	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	231	cd08530	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	545	cd05581	NULL
7048	67782326	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	297	cd07841	NULL
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	248	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	247	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	249	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	284	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	294	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	267	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	286	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	241	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	253	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	243	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	293	cd06615	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	252	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	245	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	246	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	255	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	253	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	260	cd06645	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	255	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	408	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	256	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	342	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	325	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	326	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	290	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	359	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	295	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	353	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	252	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	263	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	289	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	268	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	299	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	472	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	690	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	457	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	270	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	259	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	270	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	268	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	329	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	292	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	279	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	260	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	261	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	333	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	260	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	295	cd05088	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	281	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	273	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	255	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	314	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	300	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	255	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	309	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	283	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	242	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	912	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	299	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	302	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	384	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	812	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	249	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	851	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	270	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	253	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	263	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	259	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	262	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	510	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	314	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	262	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	261	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	271	cd06632	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	297	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	449	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	270	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	1197	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	296	cd06626	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	280	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	247	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	316	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	247	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	296	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	283	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	190182.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 1B	OMIM	291	cd05043	67782324,NP_003233
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	194_G	cd06632	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	189_G	cd06629	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	185_G	cd06917	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201	cd06638	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	213	cd05038	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	181	cd05069	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	183	cd05148	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	218_G	cd05043	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	181	cd05071	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	221	cd05095	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	220	cd06608	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	213	cd05099	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	174_G	cd05112	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	173_G	cd05113	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179_G	cd08229	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180	cd06643	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178	cd06611	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179_G	cd08228	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180_G	cd08224	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	207	cd05048	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	212	cd05049	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	200	cd05088	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	192_G	cd07864	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	215_G	cd05056	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179_G	cd05052	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	176_G	cd05073	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	181	cd05070	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	168_G	cd05083	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	184	cd05068	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	172_G	cd05082	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	176_G	cd07844	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	219	cd05098	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	362	pfam07714	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	565_G	smart00219	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	323	pfam00069	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	785	smart00221	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	231	cd06623	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	184	cd07847	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	213	cd05050	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	196	cd06605	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	191_G	cd05089	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188	cd06637	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	183_G	cd05079	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	190	cd05074	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	202	cd05035	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	183_G	cd05080	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179_G	cd05039	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	186_G	cd05034	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	190	cd05118	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	200	cd07832	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	247_G	cd07830	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	719_G	cd05579	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178	cd05060	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	656	cd00180	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	167_G	cd05607	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	753	cd05123	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	221_G	cd05033	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	186	cd05066	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188	cd05065	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	181	cd06617	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	196_G	cd05036	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	198	cd06636	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	210_G	cd07851	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	177	cd06615	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	193	cd06628	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	212	cd06626	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	231	cd06614	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179	cd06645	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	185	cd05109	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	183	cd06646	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	409	cd00192	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	184_G	cd05081	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	193	cd05044	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188_G	cd05040	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	185	cd05087	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188	cd05047	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180_G	cd05058	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	216	cd05101	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	754	smart00220	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	212	cd06639	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	181_G	cd06625	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	181_G	cd06653	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201	cd05091	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	293	cd06606	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	220	cd06627	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	259_G	cd07834	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	183_G	cd06651	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	182_G	cd05111	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	240_G	cd05057	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	191	cd06618	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188	cd05063	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	242_G	cd05032	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	229	cd05053	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	187_G	cd06624	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	187	cd06644	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	259_G	cd05046	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	192	cd06648	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	220_G	cd07833	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	174_G	cd07846	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	226_G	cd07829	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	248	cd07840	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180	cd06613	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	213	cd05122	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180	cd05601	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	247	cd08215	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	191_G	cd07837	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	196	cd06612	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	236	cd06610	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	244	cd07838	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	248	cd08217	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	185	cd08530	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	421	cd05581	NULL
7048	67782326	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	215	cd07841	NULL
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	199_G	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	199	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	200_G	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	235	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	217	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	236_G	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	192_G	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	203_G	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	194_G	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	193_G	cd06615	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	216	cd08228	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	200_G	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	197	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	197_G	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	206	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	211	cd08224	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	202_G	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	203_G	cd06645	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	216	cd06646	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	205_G	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	273	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	203_G	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	238_G	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	269	cd08217	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	238	cd06612	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	271	cd06610	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	315	cd07838	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	234	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	265_G	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	215	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	283	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	199	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	251	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	203_G	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	211	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	452	cd05581	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201_G	cd06617	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	240_G	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	205	cd05066	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	219_G	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	220	cd05065	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	248_G	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	225	cd06638	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	393	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	586	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	348	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	208	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	211	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	221	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	206	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	252_G	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	213	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	231	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	214	cd05089	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	212	cd06637	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	863	smart00221	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	208_G	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	209	cd05039	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	226	cd06605	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	203_G	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	280_G	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	209_G	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	219	cd05088	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	229_G	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	224_G	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	205_G	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	261_G	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	225	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	207	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	260_G	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	233_G	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188_G	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	808	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	209	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	245	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	272	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	737_G	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	681	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	207	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	205	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	214_G	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	209	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	207_G	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	434	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	207	cd05047	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	233	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	222	cd06636	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	210_G	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	207_G	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	218	cd06629	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	213_G	cd06632	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	247_G	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	205	cd06651	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	285	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	206	cd06625	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	205	cd06653	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	349	cd06606	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	251	cd06627	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	222	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	790	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	236	cd06639	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	240_G	cd06626	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	212	cd06628	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	230_G	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	199	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	234	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	274	cd06608	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	199	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	239	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	202	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	190182.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	243	cd05043	67782324,NP_003233
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	194_G	cd06632	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	189_G	cd06629	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	185_G	cd06917	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201	cd06638	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	213	cd05038	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	181	cd05069	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	183	cd05148	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	218_G	cd05043	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	181	cd05071	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	221	cd05095	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	220	cd06608	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	213	cd05099	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	174_G	cd05112	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	173_G	cd05113	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179_G	cd08229	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180	cd06643	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178	cd06611	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179_G	cd08228	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180_G	cd08224	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	207	cd05048	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	212	cd05049	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	200	cd05088	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	192_G	cd07864	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	215_G	cd05056	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179_G	cd05052	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	176_G	cd05073	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	181	cd05070	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	168_G	cd05083	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	184	cd05068	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	172_G	cd05082	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	176_G	cd07844	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	219	cd05098	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	362	pfam07714	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	565_G	smart00219	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	323	pfam00069	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	785	smart00221	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	231	cd06623	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	184	cd07847	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	213	cd05050	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	196	cd06605	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	191_G	cd05089	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188	cd06637	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	183_G	cd05079	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	190	cd05074	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	202	cd05035	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	183_G	cd05080	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179_G	cd05039	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	186_G	cd05034	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	190	cd05118	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	200	cd07832	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	247_G	cd07830	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	719_G	cd05579	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178	cd05060	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	656	cd00180	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	167_G	cd05607	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	753	cd05123	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	221_G	cd05033	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	186	cd05066	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188	cd05065	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	181	cd06617	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	196_G	cd05036	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	198	cd06636	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	210_G	cd07851	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	177	cd06615	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	193	cd06628	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	212	cd06626	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	231	cd06614	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179	cd06645	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	185	cd05109	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	183	cd06646	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	409	cd00192	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	184_G	cd05081	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	193	cd05044	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188_G	cd05040	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	185	cd05087	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188	cd05047	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180_G	cd05058	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	216	cd05101	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	754	smart00220	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	212	cd06639	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	181_G	cd06625	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	181_G	cd06653	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201	cd05091	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	293	cd06606	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	220	cd06627	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	259_G	cd07834	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	183_G	cd06651	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	182_G	cd05111	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	240_G	cd05057	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	191	cd06618	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188	cd05063	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	242_G	cd05032	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	229	cd05053	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	187_G	cd06624	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	187	cd06644	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	259_G	cd05046	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	192	cd06648	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	220_G	cd07833	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	174_G	cd07846	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	226_G	cd07829	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	248	cd07840	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180	cd06613	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	213	cd05122	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180	cd05601	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	247	cd08215	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	191_G	cd07837	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	196	cd06612	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	236	cd06610	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	244	cd07838	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	248	cd08217	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	185	cd08530	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	421	cd05581	NULL
7048	67782326	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	215	cd07841	NULL
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	199_G	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	199	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	200_G	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	235	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	217	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	236_G	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	192_G	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	203_G	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	194_G	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	193_G	cd06615	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	216	cd08228	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	200_G	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	197	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	197_G	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	206	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	211	cd08224	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	202_G	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	203_G	cd06645	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	216	cd06646	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	205_G	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	273	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	203_G	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	238_G	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	269	cd08217	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	238	cd06612	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	271	cd06610	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	315	cd07838	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	234	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	265_G	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	215	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	283	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	199	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	251	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	203_G	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	211	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	452	cd05581	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201_G	cd06617	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	240_G	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	205	cd05066	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	219_G	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	220	cd05065	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	248_G	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	225	cd06638	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	393	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	586	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	348	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	208	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	211	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	221	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	206	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	252_G	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	213	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	231	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	214	cd05089	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	212	cd06637	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	863	smart00221	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	208_G	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	209	cd05039	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	226	cd06605	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	203_G	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	280_G	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	209_G	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	219	cd05088	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	229_G	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	224_G	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	205_G	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	261_G	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	225	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	207	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	260_G	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	233_G	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188_G	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	808	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	209	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	245	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	272	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	737_G	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	681	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	207	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	205	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	214_G	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	209	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	207_G	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	434	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	207	cd05047	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	233	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	222	cd06636	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	210_G	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	207_G	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	218	cd06629	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	213_G	cd06632	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	247_G	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	205	cd06651	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	285	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	206	cd06625	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	205	cd06653	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	349	cd06606	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	251	cd06627	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	222	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	790	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	236	cd06639	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	240_G	cd06626	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	212	cd06628	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	230_G	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	199	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	234	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	274	cd06608	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	199	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	239	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	202	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	190182.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	243	cd05043	67782324,NP_003233
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	165	cd06632	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	156	cd06629	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	157	cd06917	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	170	cd06638	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178	cd05038	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	148	cd05069	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	151	cd05148	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	191	cd05043	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	148	cd05071	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	187	cd05095	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	189	cd06608	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180	cd05099	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	146	cd05112	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	147	cd05113	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	152	cd08229	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	149	cd06643	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	151	cd06611	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	152	cd08228	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	153	cd08224	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	173	cd05048	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178	cd05049	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	170	cd05088	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	164	cd07864	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	182	cd05056	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	150	cd05052	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	149	cd05073	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	148	cd05070	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	146	cd05083	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	151	cd05068	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	148	cd05082	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	150	cd07844	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	186	cd05098	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	321	pfam07714	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	459	smart00219	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	257	pfam00069	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	624	smart00221	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	195	cd06623	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	152	cd07847	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179	cd05050	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	165	cd06605	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	165	cd05089	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	157	cd06637	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	155	cd05079	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	159	cd05074	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	169	cd05035	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	153	cd05080	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	152	cd05039	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	153	cd05034	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	155	cd05118	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	166	cd07832	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	222	cd07830	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	142	cd05579	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	148	cd05060	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	446	cd00180	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	141	cd05607	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	662	cd05123	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	184	cd05033	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	152	cd05066	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	152	cd05065	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	151	cd06617	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	167	cd05036	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	167	cd06636	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180	cd07851	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	148	cd06615	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	154	cd06628	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	149	cd06626	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	198	cd06614	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	152	cd06645	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	155	cd05109	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	152	cd06646	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	366	cd00192	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	154	cd05081	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	163	cd05044	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	154	cd05040	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	151	cd05087	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	158	cd05047	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	151	cd05058	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	183	cd05101	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	531	smart00220	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	181	cd06639	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	152	cd06625	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	152	cd06653	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	170	cd05091	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	236	cd06606	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	156	cd06627	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	192	cd07834	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	152	cd06651	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	155	cd05111	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	208	cd05057	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	165	cd06618	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	154	cd05063	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	210	cd05032	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	196	cd05053	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	160	cd06624	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	156	cd06644	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	232	cd05046	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	162	cd06648	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	173	cd07833	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	147	cd07846	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	196	cd07829	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	196	cd07840	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	149	cd06613	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	181	cd05122	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	148	cd05601	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	206	cd08215	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	165	cd07837	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	161	cd06612	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	158	cd06610	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	173	cd07838	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	217	cd08217	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	155	cd08530	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	262	cd05581	NULL
7048	67782326	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	163	cd07841	NULL
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	171	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	170	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	172	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	206	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	187	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	171	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	209	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	164	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	176	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	166	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	167	cd06615	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	173	cd08228	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	173	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	168	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	169	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	172	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	174	cd08224	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	170	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	173	cd06645	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	173	cd06646	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	228	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	170	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	207	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	238	cd08217	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	183	cd06612	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	189	cd06610	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	216	cd07838	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	204	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	235	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	186	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	215	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	169	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	221	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	175	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	171	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	404	cd05581	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	171	cd06617	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	212	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	176	cd05066	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	191	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178	cd05065	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	221	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	191	cd06638	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	349	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	554	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	296	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179_G	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	182	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	192	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	177_G	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	221	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	174	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	202	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	185	cd05089	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178	cd06637	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	770	smart00221	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	181	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	173	cd05039	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	186	cd06605	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	181	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	254	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	177	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	190	cd05088	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	196	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	233	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	185	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	232	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	206	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	161	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	736	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	189	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	242	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	710	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	172	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	627	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178_G	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	176	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	186	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	174	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	398	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178	cd05047	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	201	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188	cd06636	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	183	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180	cd06629	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	189	cd06632	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	219	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	176	cd06651	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	254	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	176	cd06625	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	176	cd06653	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	283	cd06606	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	210	cd06627	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	193	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	707	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	202	cd06639	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	202	cd06626	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	183	cd06628	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	203	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	170	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	202	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	210	cd06608	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	170	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	210	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	173	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Met425Val	190182.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	214	cd05043	67782324,NP_003233
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	167	cd06632	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	158	cd06629	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	159	cd06917	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	172	cd06638	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179_G	cd05038	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	149_G	cd05069	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	152_G	cd05148	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	193	cd05043	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	149_G	cd05071	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	189	cd05095	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	191	cd06608	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	182	cd05099	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	147_G	cd05112	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	149	cd05113	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	153_G	cd08229	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	151	cd06643	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	153	cd06611	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	153_G	cd08228	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	154_G	cd08224	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	174_G	cd05048	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180	cd05049	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	172	cd05088	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	165_G	cd07864	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	184	cd05056	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	152	cd05052	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	151	cd05073	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	149_G	cd05070	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	147_G	cd05083	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	153	cd05068	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	150	cd05082	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	152	cd07844	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188	cd05098	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	323	pfam07714	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	461	smart00219	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	259	pfam00069	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	626	smart00221	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	197	cd06623	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	154	cd07847	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	181	cd05050	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	167	cd06605	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	167	cd05089	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	159	cd06637	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	157	cd05079	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	161	cd05074	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	171	cd05035	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	155	cd05080	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	153_G	cd05039	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	154_G	cd05034	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	157	cd05118	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	167_G	cd07832	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	224	cd07830	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	144	cd05579	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	152	cd05060	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	448	cd00180	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	143	cd05607	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	664	cd05123	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	186	cd05033	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	154	cd05066	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	154	cd05065	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	153	cd06617	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	168_G	cd05036	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	169	cd06636	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	182	cd07851	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	150	cd06615	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	156	cd06628	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	151	cd06626	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	200	cd06614	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	154	cd06645	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	157	cd05109	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	154	cd06646	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	368	cd00192	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	156	cd05081	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	165	cd05044	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	156	cd05040	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	156	cd05087	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	160	cd05047	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	153	cd05058	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	185	cd05101	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	534	smart00220	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	183	cd06639	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	154	cd06625	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	154	cd06653	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	172	cd05091	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	238	cd06606	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	158	cd06627	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	194	cd07834	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	154	cd06651	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	157	cd05111	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	210	cd05057	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	167	cd06618	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	156	cd05063	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	211_G	cd05032	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	197_G	cd05053	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	162	cd06624	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	158	cd06644	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	234	cd05046	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	164	cd06648	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	177	cd07833	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	148_G	cd07846	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	198	cd07829	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	198	cd07840	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	151	cd06613	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	183	cd05122	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	150	cd05601	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	208	cd08215	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	167	cd07837	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	163	cd06612	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	160	cd06610	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	175	cd07838	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	219	cd08217	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	156_G	cd08530	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	264	cd05581	NULL
7048	67782326	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	165	cd07841	NULL
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	173	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	172	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	174	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	208	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	189	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	173	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	211	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	166	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	168	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	169	cd06615	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	175	cd08228	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	175	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	170	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	171	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	174	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	176	cd08224	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	172	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	175	cd06645	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	175	cd06646	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179_G	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	230	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	172	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	209	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	240	cd08217	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	185	cd06612	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	191	cd06610	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	218	cd07838	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	206	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	237	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	217	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	171	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	223	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	177	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	173	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	406	cd05581	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	173	cd06617	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	214	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178	cd05066	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	193	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180	cd05065	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	223	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	193	cd06638	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	354	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	556	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	298	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	181	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	184	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	194	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	223	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	176	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	204	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	187	cd05089	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180	cd06637	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	772	smart00221	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	183	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	175	cd05039	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188	cd06605	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	183	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	256	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	192	cd05088	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	203	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	198	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	235	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	187	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	179_G	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	234	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	208	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	163	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	738	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	181	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	191	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	244	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	712	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	174	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	629	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	177_G	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	188	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	182	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	176	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	400	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	180	cd05047	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	203	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	190	cd06636	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	185	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	182	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	182	cd06629	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	191	cd06632	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	221	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178	cd06651	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	256	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178	cd06625	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	178	cd06653	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	285	cd06606	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	212	cd06627	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	195	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	709	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	204	cd06639	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	204	cd06626	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	185	cd06628	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	205	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	172	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	204	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	212	cd06608	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	172	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	212	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	175	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Pro427Leu	190182.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190182	LOEYS-DIETZ SYNDROME, TYPE 2B	OMIM	216	cd05043	67782324,NP_003233
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	190	cd05065	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	186	cd06613	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	192	cd05034	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	245	cd05032	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	194_G	cd06624	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	224	cd06626	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	234	cd07829	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	186	cd05086	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	190	cd05042	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	222	cd05122	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	188	cd05578	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	184	cd05148	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	234_G	cd07833	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	204_G	cd06610	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	189	cd05601	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	186	cd08530	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	200_G	cd06612	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	227	cd06608	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	194	cd06629	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	182_G	cd07861	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	183	cd07836	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	193	cd06628	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	204_G	cd07832	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	223	cd06627	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	180_G	cd08223	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	212	cd07841	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	181	cd05605	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	323	cd06606	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	294_G	cd07842	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	207_G	cd05045	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	191	cd06634	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	226	cd05043	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	379	cd07840	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	247	cd08215	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	184_G	cd08529	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	190	cd05063	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	204	cd05091	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	205	cd05090	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	208	cd05048	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	218	cd05056	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	203	cd05036	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	197	cd07864	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	194	cd06637	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	189_G	cd05109	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	224_G	cd07866	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	186	cd06645	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	186	cd06646	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	215	cd05049	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	267_G	cd05046	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	214_G	cd05099	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	203_G	cd05088	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	233	cd05053	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	188	cd05066	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	178	cd05082	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	220	cd06616	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	187	cd08228	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	189_G	cd05111	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	212	cd05097	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	221_G	cd05095	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	187_G	cd08224	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	187	cd08229	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	183	cd05039	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	188	cd05064	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	182	cd05059	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	187_G	cd05081	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	192	cd05079	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	180	cd05114	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	181	cd05113	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	180	cd06641	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	179_G	cd06642	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	180	cd06640	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	177	cd05115	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	174	cd05083	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	187	cd05080	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	191_G	cd07863	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	186_G	cd07847	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	214	cd05050	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	187	cd06617	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	179_G	cd08219	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	224	cd06609	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	237	cd06623	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	428	cd05581	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	202	cd06605	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	195	cd06648	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	220_G	cd05098	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	182	cd07844	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	201	cd05093	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	180	cd05112	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	181	cd05067	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	183_G	cd05069	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	187	cd05068	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	180	cd05073	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	183	cd05072	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	179	cd05070	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	224	cd05033	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	219	cd05038	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	184	cd05052	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	183_G	cd05071	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	202_G	cd05061	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	201_G	cd05062	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	252	cd05051	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	202_G	cd07845	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	207	cd07835	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	195_G	cd05074	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	205_G	cd05035	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	832	smart00221	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	568	smart00219	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	371	pfam07714	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	329	pfam00069	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	203	cd05092	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	722	cd05579	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	174_G	cd05607	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	175	cd05633	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	174	cd05608	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	176	cd05606	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	184_G	cd08221	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	188_G	cd06625	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	188_G	cd08220	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	179	cd05577	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	790	cd05123	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	662	cd00180	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	760	smart00220	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	216	cd06639	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	244	cd05057	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	207	cd06638	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	204	cd06636	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	209_G	cd07865	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	250	cd08217	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	180	cd07846	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	184	cd05060	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	189_G	cd05047	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	175	cd05084	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	199_G	cd05044	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	177	cd05041	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	174	cd05085	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	199	cd07837	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	190_G	cd05040	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	191	cd05087	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	188	cd05058	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	205	cd06632	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	203	cd06631	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	416	cd00192	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	179	cd07839	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	192_G	cd06917	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	191_G	cd05118	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	234_G	cd06614	NULL
7046	195963412	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	217_G	cd05101	NULL
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	133	cd06634	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	153	cd05098	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	112	cd07861	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	113	cd07836	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	198	cd06606	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	222	cd07842	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	133	cd07832	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	124_G	cd06627	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120	cd08223	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	146	cd05045	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	126	cd06628	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	135	cd07841	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120	cd05605	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	128	cd06629	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	153	cd06639	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	124	cd08530	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	141	cd07833	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120	cd05578	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	130	cd06610	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	133	cd06612	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	161	cd06608	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	123	cd05148	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	113	cd05601	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	151	cd05122	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	156	cd08215	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	167	cd07840	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	123_G	cd08529	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	129	cd06637	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	125_G	cd05109	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	135_G	cd07864	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	159	cd07829	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120	cd06626	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	117_G	cd05086	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120_G	cd05042	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	139	cd06636	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	142	cd06638	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	136	cd05099	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	129	cd05088	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	152	cd05053	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	479	smart00221	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	136	cd07835	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	402	smart00219	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	271_G	pfam07714	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	198	pfam00069	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	131	cd05074	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	136	cd05035	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120	cd05067	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	121	cd05069	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	123	cd05068	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120_G	cd05073	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120_G	cd05072	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	121	cd05070	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	122	cd07844	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	127	cd05093	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	139	cd07845	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	121	cd05071	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	138	cd05061	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	137	cd05062	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	166	cd05051	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	157	cd05033	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	141	cd05038	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	122	cd05052	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	118	cd05112	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	124	cd05092	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	122	cd06617	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	118	cd05083	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	233_G	cd05581	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	116	cd08219	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	140_G	cd06609	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	125	cd05080	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	129	cd07863	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	118	cd07847	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	127	cd05050	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	153	cd06623	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	135	cd06605	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	167_G	cd06614	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	150	cd05101	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	113	cd05115	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	179	cd05057	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	142	cd07865	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	129	cd05091	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	131	cd05090	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	134	cd05048	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	134	cd05036	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	127	cd05063	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	154	cd05056	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	124	cd08228	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	125	cd05066	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	119	cd06641	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	119	cd06642	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	127	cd05111	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	132	cd06616	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120	cd05082	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	125	cd05039	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	136	cd05097	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	146	cd05095	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	119	cd06640	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	124	cd05064	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120	cd05059	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	121	cd05081	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	125_G	cd05079	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	116	cd05114	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	119	cd05113	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	125	cd08224	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	124	cd08229	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	633	cd05123	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	348	cd00180	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	113_G	cd05579	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120	cd08221	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	124	cd06625	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	128	cd08220	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	118	cd05577	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	115	cd05633	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	115	cd05608	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	116	cd05606	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	114	cd05607	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	134_G	cd06659	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	386	smart00220	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	126_G	cd05118	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	121	cd05060	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	117	cd05047	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	119	cd07846	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	123	cd08217	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	123	cd05058	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	112	cd05084	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	129	cd05044	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	114	cd05041	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	112	cd05085	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	135_G	cd07837	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	122	cd05040	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	122_G	cd05087	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	137	cd06632	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	122	cd06631	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	127_G	cd06917	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	324_G	cd00192	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	117	cd07839	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	133_G	cd06648	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	122	cd05034	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	125	cd05065	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	182	cd05032	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	131	cd06624	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	121	cd06613	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	124	cd06646	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	129	cd05049	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	203_G	cd05046	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	149	cd07866	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	124	cd06645	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	190181.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	159_G	cd05043	4759226,NP_004603
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	251	cd06613	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	255	cd05034	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	309	cd05032	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	256	cd06624	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	348	cd07829	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	253	cd05086	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	256_G	cd05042	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	337	cd05122	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	278	cd05148	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	354	cd07833	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	275	cd06610	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	307	cd05601	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	259	cd06629	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	264	cd07861	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	266	cd07836	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	260	cd06628	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	320	cd07841	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	270	cd05605	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	268	cd05045	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	288	cd06634	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	250	cd05063	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	265	cd05091	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	265	cd05090	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	268	cd05048	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	279	cd05056	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	263	cd05036	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	289	cd07864	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	250	cd05109	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	336	cd07866	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	251	cd06645	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	256	cd06646	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	276	cd05049	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	328	cd05046	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	275	cd05099	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	288	cd05088	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	292	cd05053	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	238	cd05082	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	250	cd05111	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	280	cd05097	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	291	cd05095	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	246	cd05039	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	248	cd05064	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	242	cd05059	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	265	cd05081	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	265	cd05079	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	240	cd05114	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	241	cd05113	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	260	cd06641	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	260	cd06642	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	267	cd06640	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	237	cd05115	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	236	cd05083	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	263	cd05080	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	274	cd07863	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	287	cd07847	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	274	cd05050	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	324	cd06623	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	262	cd06648	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	281	cd05098	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	268	cd07844	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	261	cd05093	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	240	cd05112	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	268	cd05067	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	242	cd05069	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	248	cd05068	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	243	cd05073	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	243	cd05072	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	242	cd05070	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	284	cd05033	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	311	cd05038	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	244	cd05052	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	242	cd05071	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	261	cd05061	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	260	cd05062	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	335	cd05051	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	299_G	cd07845	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	287	cd07835	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	254	cd05074	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	265	cd05035	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	685	smart00219	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	467	pfam07714	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	452	pfam00069	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	280	cd05092	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	277	cd05607	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	258	cd05633	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	267	cd05608	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	267	cd05606	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	846	cd00180	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	1192	smart00220	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	280	cd06639	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	304	cd05057	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	267_G	cd06638	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	290	cd07846	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	244	cd05060	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	250	cd05047	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	235	cd05084	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	258	cd05044	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	237	cd05041	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	234	cd05085	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	285	cd07837	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	254	cd05040	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	258	cd05087	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	248	cd05058	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	505	cd00192	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	269	cd07839	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	256	cd06917	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	294	cd05118	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	320	cd06614	NULL
7046	195963412	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	278	cd05101	NULL
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	196	cd06634	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	224	cd05098	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	185	cd07861	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	186	cd07836	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	328	cd06606	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	298	cd07842	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	205	cd07832	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	227	cd06627	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	184	cd08223	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	211	cd05045	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	198	cd06628	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	220	cd07841	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	183	cd05605	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	198	cd06629	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	222	cd06639	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	190	cd08530	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	242	cd07833	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	193	cd05578	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	206	cd06610	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	202	cd06612	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	235	cd06608	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	188	cd05148	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	194	cd05601	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	227	cd05122	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	251	cd08215	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	390	cd07840	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	188	cd08529	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	198	cd06637	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	193	cd05109	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	203	cd07864	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	237	cd07829	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	229	cd06626	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	191	cd05086	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	195	cd05042	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	208	cd06636	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	211	cd06638	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	218	cd05099	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	205	cd05088	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	234	cd05053	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	837	smart00221	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	210	cd07835	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	571	smart00219	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	379	pfam07714	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	334	pfam00069	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	197	cd05074	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	207	cd05035	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	185	cd05067	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	185	cd05069	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	191	cd05068	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	186	cd05073	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	186	cd05072	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	185	cd05070	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	187	cd07844	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	204	cd05093	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	206	cd07845	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	185	cd05071	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	204	cd05061	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	203	cd05062	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	254	cd05051	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	227	cd05033	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	220	cd05038	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	187	cd05052	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	183	cd05112	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	206	cd05092	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	190	cd06617	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	179	cd05083	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	433	cd05581	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	182	cd08219	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	233	cd06609	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	192	cd05080	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	192	cd07863	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	190	cd07847	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	217	cd05050	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	241	cd06623	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	206	cd06605	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	236	cd06614	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	221	cd05101	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	180	cd05115	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	247	cd05057	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	213	cd07865	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	208	cd05091	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	208	cd05090	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	211	cd05048	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	206	cd05036	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	193	cd05063	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	221	cd05056	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	188	cd08228	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	191	cd05066	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	183	cd06641	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	183	cd06642	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	193	cd05111	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	244	cd06616	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	181	cd05082	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	188	cd05039	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	215	cd05097	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	225	cd05095	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	183	cd06640	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	191	cd05064	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	185	cd05059	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	193	cd05081	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	194	cd05079	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	183	cd05114	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	184	cd05113	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	189	cd08224	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	188	cd08229	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	794	cd05123	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	667	cd00180	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	726	cd05579	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	186	cd08221	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	192	cd06625	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	192	cd08220	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	183	cd05577	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	178	cd05633	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	179	cd05608	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	179	cd05606	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	177	cd05607	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	199	cd06659	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	776	smart00220	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	195	cd05118	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	187	cd05060	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	193	cd05047	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	185	cd07846	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	255	cd08217	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	191	cd05058	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	178	cd05084	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	201	cd05044	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	180	cd05041	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	177	cd05085	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	202	cd07837	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	195	cd05040	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	196	cd05087	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	208	cd06632	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	212	cd06631	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	196	cd06917	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	420	cd00192	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	182	cd07839	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	198	cd06648	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	196	cd05034	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	193	cd05065	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	248	cd05032	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	198	cd06624	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	191	cd06613	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	191	cd06646	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	216	cd05049	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	269	cd05046	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	232	cd07866	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	191	cd06645	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	190181.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	229	cd05043	4759226,NP_004603
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	81	cd05065	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	78	cd06613	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	77	cd05034	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	118	cd05032	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	86	cd06624	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	78	cd06626	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	103	cd07829	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	71	cd05086	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	74	cd05042	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	100	cd05122	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	76	cd05578	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	79	cd05148	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	98	cd07833	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	77	cd06610	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	77	cd05601	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	78	cd08530	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	87	cd06612	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	115	cd06608	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	84	cd06629	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	76	cd07861	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	74	cd07836	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	84	cd06628	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	88	cd07832	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	81	cd06627	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	76	cd08223	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	91	cd07841	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	76	cd05605	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	151	cd06606	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	172	cd07842	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	79	cd05045	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	91	cd06634	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	107	cd05043	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	119	cd07840	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	102	cd08215	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	80	cd08529	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	83	cd05063	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	84	cd05091	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	83	cd05090	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	85	cd05048	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	111	cd05056	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	89	cd05036	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	93	cd07864	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	85	cd06637	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	84	cd05109	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	107	cd07866	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	82	cd06645	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	82	cd06646	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	86	cd05049	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	144	cd05046	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	94	cd05099	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	84	cd05088	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	94	cd05053	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	81	cd05066	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	76	cd05082	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	90	cd06616	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	82	cd08228	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	84	cd05111	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	95	cd05097	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	98	cd05095	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	79	cd08224	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	78	cd08229	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	80	cd05039	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	82	cd05064	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	75	cd05059	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	83	cd05081	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	84	cd05079	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	75	cd05114	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	75	cd05113	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	78	cd06641	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	78	cd06642	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	78	cd06640	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	70	cd05115	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	74	cd05083	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	84	cd05080	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	86	cd07863	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	76	cd07847	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	84	cd05050	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	80	cd06617	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	74	cd08219	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	91	cd06609	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	100	cd06623	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	128	cd05581	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	80	cd06605	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	92	cd06648	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	100	cd05098	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	79	cd07844	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	83	cd05093	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	75	cd05112	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	76	cd05067	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	76	cd05069	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	77	cd05068	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	77	cd05073	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	77	cd05072	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	76	cd05070	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	105	cd05033	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	94	cd05038	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	78	cd05052	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	76	cd05071	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	89	cd05061	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	91	cd05062	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	118	cd05051	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	84	cd07845	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	82	cd07835	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	83	cd05074	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	93	cd05035	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	368	smart00221	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	240	smart00219	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	127	pfam07714	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	130	pfam00069	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	83	cd05092	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	71	cd05579	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	69	cd05607	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	73	cd05633	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	69	cd05608	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	74	cd05606	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	75	cd08221	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	82	cd06625	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	77	cd08220	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	72	cd05577	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	110	cd05123	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	243	cd00180	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	297	smart00220	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	107	cd06639	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	134	cd05057	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	96	cd06638	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	95	cd06636	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	100	cd07865	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	77	cd08217	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	77	cd07846	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	76	cd05060	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	72	cd05047	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	69	cd05084	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	75	cd05044	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	70	cd05041	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	73	cd05085	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	89	cd07837	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	76	cd05040	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	71	cd05087	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	80	cd05058	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	95	cd06632	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	77	cd06631	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	138	cd00192	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	75	cd07839	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	84	cd06917	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	84	cd05118	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	106	cd06614	NULL
7046	195963412	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	97	cd05101	NULL
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	12	cd06634	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	14	cd05098	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	21	cd06639	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	3	cd06637	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	3	cd05109	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	5	cd07864	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	13	cd06636	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	8	cd06638	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	8	cd05099	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	8	cd05088	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	8	cd05053	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	4_G	cd05092	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	11	cd06614	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	11	cd05101	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	7	cd05057	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	9	cd07865	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	2	cd05091	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	2	cd05090	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	2	cd05048	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	2	cd05036	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	2	cd05063	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	2	cd05056	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	17	cd06659	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	15	cd06648	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	28	smart00467	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	31	pfam08515	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	6	cd06646	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	4_G	cd05049	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	5	cd05046	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	5	cd07866	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	6	cd06645	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	190181.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	6	cd05043	4759226,NP_004603
7046	195963412	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	No Domain	N/A	NULL
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	299	cd06634	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	291	cd05098	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	274	cd07861	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	276	cd07836	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	278	cd05045	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	270	cd06628	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	328_G	cd07841	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	290	cd05605	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	290	cd06639	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	288	cd06610	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	288	cd05148	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	317	cd05601	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	260	cd05109	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	302	cd07864	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	358	cd07829	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	262	cd05086	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	266	cd05042	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	272	cd06638	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	303	cd05099	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	293	cd05088	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	302	cd05053	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	297	cd07835	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	695	smart00219	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	477	pfam07714	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	467	pfam00069	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	264	cd05074	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	275	cd05035	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	278	cd05067	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	252	cd05069	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	258	cd05068	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	253	cd05073	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	253	cd05072	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	252	cd05070	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	278	cd07844	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	271	cd05093	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	312	cd07845	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	252	cd05071	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	271	cd05061	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	270	cd05062	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	345	cd05051	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	294	cd05033	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	321	cd05038	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	254	cd05052	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	250	cd05112	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	246	cd05083	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	273	cd05080	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	284	cd07863	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	297	cd07847	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	284	cd05050	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	334	cd06623	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	288	cd05101	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	247	cd05115	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	314	cd05057	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	275	cd05091	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	275	cd05090	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	278	cd05048	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	273	cd05036	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	260	cd05063	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	289	cd05056	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	272	cd06641	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	272	cd06642	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	260	cd05111	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	248	cd05082	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	256	cd05039	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	290	cd05097	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	301	cd05095	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	258	cd05064	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	249_G	cd05059	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	275	cd05081	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	275	cd05079	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	250	cd05114	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	251	cd05113	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	866	cd00180	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	268	cd05633	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	277	cd05608	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	277	cd05606	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	281	cd06659	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	1227	smart00220	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	254	cd05060	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	260	cd05047	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	298_G	cd07846	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	258	cd05058	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	245	cd05084	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	268	cd05044	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	247	cd05041	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	244	cd05085	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	295	cd07837	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	264	cd05040	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	267	cd05087	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	269	cd06917	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	518	cd00192	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	279	cd07839	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	272	cd06648	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	265	cd05034	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	319	cd05032	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	266	cd06624	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	265	cd06613	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	266	cd06646	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	293	cd05049	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	338	cd05046	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	346	cd07866	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	190181.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	261	cd06645	4759226,NP_004603
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	125	cd05065	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	121	cd06613	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	122	cd05034	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	182	cd05032	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	131	cd06624	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120	cd06626	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	159	cd07829	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	117_G	cd05086	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120_G	cd05042	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	151	cd05122	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120	cd05578	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	123	cd05148	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	141	cd07833	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	130	cd06610	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	113	cd05601	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	124	cd08530	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	133	cd06612	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	161	cd06608	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	128	cd06629	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	112	cd07861	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	113	cd07836	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	126	cd06628	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	133	cd07832	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	124_G	cd06627	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120	cd08223	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	135	cd07841	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120	cd05605	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	198	cd06606	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	222	cd07842	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	146	cd05045	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	133	cd06634	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	159_G	cd05043	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	167	cd07840	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	156	cd08215	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	123_G	cd08529	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	127	cd05063	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	129	cd05091	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	131	cd05090	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	134	cd05048	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	154	cd05056	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	134	cd05036	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	135_G	cd07864	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	129	cd06637	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	125_G	cd05109	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	149	cd07866	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	124	cd06645	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	124	cd06646	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	129	cd05049	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	203_G	cd05046	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	136	cd05099	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	129	cd05088	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	152	cd05053	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	125	cd05066	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120	cd05082	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	132	cd06616	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	124	cd08228	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	127	cd05111	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	136	cd05097	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	146	cd05095	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	125	cd08224	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	124	cd08229	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	125	cd05039	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	124	cd05064	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120	cd05059	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	121	cd05081	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	125_G	cd05079	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	116	cd05114	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	119	cd05113	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	119	cd06641	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	119	cd06642	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	119	cd06640	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	113	cd05115	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	118	cd05083	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	125	cd05080	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	129	cd07863	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	118	cd07847	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	127	cd05050	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	122	cd06617	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	116	cd08219	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	140_G	cd06609	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	153	cd06623	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	233_G	cd05581	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	135	cd06605	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	133_G	cd06648	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	153	cd05098	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	122	cd07844	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	127	cd05093	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	118	cd05112	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120	cd05067	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	121	cd05069	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	123	cd05068	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120_G	cd05073	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120_G	cd05072	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	121	cd05070	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	157	cd05033	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	141	cd05038	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	122	cd05052	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	121	cd05071	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	138	cd05061	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	137	cd05062	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	166	cd05051	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	139	cd07845	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	136	cd07835	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	131	cd05074	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	136	cd05035	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	479	smart00221	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	402	smart00219	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	271_G	pfam07714	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	198	pfam00069	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	124	cd05092	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	113_G	cd05579	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	114	cd05607	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	115	cd05633	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	115	cd05608	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	116	cd05606	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	120	cd08221	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	124	cd06625	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	128	cd08220	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	118	cd05577	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	633	cd05123	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	348	cd00180	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	386	smart00220	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	153	cd06639	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	179	cd05057	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	142	cd06638	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	139	cd06636	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	142	cd07865	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	123	cd08217	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	119	cd07846	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	121	cd05060	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	117	cd05047	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	112	cd05084	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	129	cd05044	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	114	cd05041	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	112	cd05085	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	135_G	cd07837	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	122	cd05040	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	122_G	cd05087	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	123	cd05058	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	137	cd06632	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	122	cd06631	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	324_G	cd00192	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	117	cd07839	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	127_G	cd06917	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	126_G	cd05118	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	167_G	cd06614	NULL
7046	195963412	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	150	cd05101	NULL
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	55	cd06634	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	69	cd05098	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	41	cd07861	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	40	cd07836	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	105	cd06606	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	140	cd07842	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	47	cd07832	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	46	cd06627	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	45	cd08223	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	49	cd05045	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	42	cd06628	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	59	cd07841	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	46	cd05605	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	46	cd06629	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	69	cd06639	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	45	cd08530	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	66	cd07833	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	46	cd05578	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	47	cd06610	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	55	cd06612	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	67	cd06608	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	47	cd05148	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	46	cd05601	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	61	cd05122	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	63	cd08215	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	66	cd07840	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	49	cd08529	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	44_G	cd06637	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	49	cd05109	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	47	cd07864	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	51	cd07829	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	44	cd06626	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	41	cd05086	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	44	cd05042	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	54_G	cd06636	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	58	cd06638	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	63	cd05099	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	53	cd05088	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	60	cd05053	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	240	smart00221	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	47	cd07835	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	174	smart00219	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	79	pfam07714	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	50	pfam00069	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	47	cd05074	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	57	cd05035	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	47	cd05067	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	47	cd05069	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	47	cd05068	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	47	cd05073	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	47	cd05072	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	47	cd05070	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	45	cd07844	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	53	cd05093	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	52	cd07845	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	47	cd05071	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	55	cd05061	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	55	cd05062	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	86	cd05051	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	74	cd05033	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	56	cd05038	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	44	cd05052	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	45	cd05112	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	50	cd05092	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	45	cd06617	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	44	cd05083	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	86	cd05581	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	45	cd08219	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	57	cd06609	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	52	cd05080	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	48	cd07863	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	41	cd07847	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	48	cd05050	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	55	cd06623	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	46	cd06605	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	74	cd06614	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	66	cd05101	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	37	cd05115	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	104	cd05057	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	54	cd07865	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	50	cd05091	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	49	cd05090	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	49	cd05048	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	55	cd05036	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	53	cd05063	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	82	cd05056	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	45	cd08228	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	51	cd05066	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	44	cd06641	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	44	cd06642	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	51	cd05111	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	52	cd06616	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	44	cd05082	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	49	cd05039	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	64	cd05097	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	67	cd05095	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	44	cd06640	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	52	cd05064	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	45	cd05059	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	50	cd05081	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	50	cd05079	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	45	cd05114	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	45	cd05113	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	49	cd08224	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	45	cd08229	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	68	cd05123	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	134	cd00180	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	36	cd05579	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	45	cd08221	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	42	cd06625	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	47	cd08220	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	39	cd05577	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	34	cd05633	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	35	cd05608	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	34	cd05606	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	33	cd05607	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	61	cd06659	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	155	smart00220	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	39	cd05118	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	47	cd05060	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	41	cd05047	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	41	cd07846	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	37_G	cd08217	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	49	cd05058	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	39	cd05084	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	45	cd05044	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	40	cd05041	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	39	cd05085	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	46	cd07837	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	45	cd05040	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	41	cd05087	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	51	cd06632	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	48	cd06631	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	45	cd06917	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	82	cd00192	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	45	cd07839	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	59	cd06648	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	47	cd05034	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	51	cd05065	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	86	cd05032	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	49	cd06624	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	46	cd06613	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	49	cd06646	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	53	cd05049	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	113	cd05046	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	49	cd07866	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	50	cd06645	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	190181.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 1A	OMIM	67	cd05043	4759226,NP_004603
7046	195963412	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	No Domain	N/A	NULL
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	299	cd06634	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	291	cd05098	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	274	cd07861	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	276	cd07836	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	278	cd05045	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	270	cd06628	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	328_G	cd07841	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	290	cd05605	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	290	cd06639	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	288	cd06610	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	288	cd05148	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	317	cd05601	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	260	cd05109	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	302	cd07864	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	358	cd07829	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	262	cd05086	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	266	cd05042	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	272	cd06638	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	303	cd05099	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	293	cd05088	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	302	cd05053	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	297	cd07835	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	695	smart00219	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	477	pfam07714	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	467	pfam00069	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	264	cd05074	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	275	cd05035	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	278	cd05067	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	252	cd05069	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	258	cd05068	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	253	cd05073	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	253	cd05072	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	252	cd05070	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	278	cd07844	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	271	cd05093	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	312	cd07845	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	252	cd05071	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	271	cd05061	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	270	cd05062	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	345	cd05051	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	294	cd05033	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	321	cd05038	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	254	cd05052	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	250	cd05112	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	246	cd05083	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	273	cd05080	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	284	cd07863	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	297	cd07847	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	284	cd05050	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	334	cd06623	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	288	cd05101	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	247	cd05115	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	314	cd05057	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	275	cd05091	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	275	cd05090	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	278	cd05048	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	273	cd05036	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	260	cd05063	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	289	cd05056	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	272	cd06641	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	272	cd06642	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	260	cd05111	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	248	cd05082	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	256	cd05039	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	290	cd05097	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	301	cd05095	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	258	cd05064	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	249_G	cd05059	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	275	cd05081	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	275	cd05079	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	250	cd05114	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	251	cd05113	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	866	cd00180	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	268	cd05633	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	277	cd05608	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	277	cd05606	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	281	cd06659	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	1227	smart00220	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	254	cd05060	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	260	cd05047	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	298_G	cd07846	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	258	cd05058	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	245	cd05084	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	268	cd05044	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	247	cd05041	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	244	cd05085	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	295	cd07837	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	264	cd05040	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	267	cd05087	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	269	cd06917	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	518	cd00192	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	279	cd07839	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	272	cd06648	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	265	cd05034	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	319	cd05032	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	266	cd06624	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	265	cd06613	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	266	cd06646	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	293	cd05049	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	338	cd05046	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	346	cd07866	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	190181.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	261	cd06645	4759226,NP_004603
7046	195963412	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	No Domain	N/A	NULL
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	299	cd06634	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	291	cd05098	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	274	cd07861	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	276	cd07836	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	278	cd05045	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	270	cd06628	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	328_G	cd07841	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	290	cd05605	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	290	cd06639	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	288	cd06610	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	288	cd05148	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	317	cd05601	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	260	cd05109	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	302	cd07864	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	358	cd07829	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	262	cd05086	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	266	cd05042	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	272	cd06638	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	303	cd05099	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	293	cd05088	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	302	cd05053	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	297	cd07835	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	695	smart00219	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	477	pfam07714	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	467	pfam00069	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	264	cd05074	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	275	cd05035	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	278	cd05067	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	252	cd05069	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	258	cd05068	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	253	cd05073	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	253	cd05072	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	252	cd05070	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	278	cd07844	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	271	cd05093	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	312	cd07845	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	252	cd05071	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	271	cd05061	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	270	cd05062	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	345	cd05051	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	294	cd05033	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	321	cd05038	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	254	cd05052	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	250	cd05112	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	246	cd05083	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	273	cd05080	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	284	cd07863	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	297	cd07847	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	284	cd05050	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	334	cd06623	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	288	cd05101	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	247	cd05115	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	314	cd05057	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	275	cd05091	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	275	cd05090	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	278	cd05048	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	273	cd05036	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	260	cd05063	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	289	cd05056	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	272	cd06641	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	272	cd06642	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	260	cd05111	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	248	cd05082	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	256	cd05039	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	290	cd05097	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	301	cd05095	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	258	cd05064	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	249_G	cd05059	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	275	cd05081	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	275	cd05079	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	250	cd05114	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	251	cd05113	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	866	cd00180	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	268	cd05633	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	277	cd05608	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	277	cd05606	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	281	cd06659	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	1227	smart00220	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	254	cd05060	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	260	cd05047	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	298_G	cd07846	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	258	cd05058	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	245	cd05084	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	268	cd05044	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	247	cd05041	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	244	cd05085	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	295	cd07837	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	264	cd05040	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	267	cd05087	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	269	cd06917	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	518	cd00192	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	279	cd07839	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	272	cd06648	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	265	cd05034	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	319	cd05032	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	266	cd06624	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	265	cd06613	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	266	cd06646	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	293	cd05049	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	338	cd05046	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	346	cd07866	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	190181.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	261	cd06645	4759226,NP_004603
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	59_G	cd05065	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	56	cd06613	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	57	cd05034	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	96	cd05032	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	59	cd06624	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	54	cd06626	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	60_G	cd07829	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	50_G	cd05086	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	53_G	cd05042	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	71	cd05122	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	55_G	cd05578	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	57	cd05148	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	76	cd07833	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	57	cd06610	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	53	cd05601	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	55	cd08530	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	65	cd06612	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	77	cd06608	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	62	cd06629	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	53	cd07861	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	52	cd07836	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	54	cd06628	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	57	cd07832	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	58	cd06627	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	53_G	cd08223	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	69	cd07841	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	56	cd05605	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	115	cd06606	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	144_G	cd07842	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	59	cd05045	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	65	cd06634	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	78	cd05043	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	80_G	cd07840	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	73	cd08215	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	57_G	cd08529	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	63	cd05063	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	58	cd05091	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	59	cd05090	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	63_G	cd05048	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	91_G	cd05056	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	65	cd05036	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	61_G	cd07864	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	52	cd06637	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	59	cd05109	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	63_G	cd07866	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	60	cd06645	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	60	cd06646	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	64	cd05049	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	124	cd05046	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	72_G	cd05099	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	62	cd05088	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	73	cd05053	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	59_G	cd05066	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	53	cd05082	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	62	cd06616	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	56	cd08228	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	61	cd05111	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	73	cd05097	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	76	cd05095	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	58_G	cd08224	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	56	cd08229	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	57_G	cd05039	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	60_G	cd05064	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	51_G	cd05059	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	59	cd05081	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	60	cd05079	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	53_G	cd05114	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	53_G	cd05113	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	54	cd06641	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	52	cd06642	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	52	cd06640	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	47	cd05115	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	53	cd05083	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	62	cd05080	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	58	cd07863	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	54	cd07847	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	58	cd05050	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	55	cd06617	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	53	cd08219	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	66	cd06609	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	65	cd06623	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	99	cd05581	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	56	cd06605	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	67	cd06648	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	78_G	cd05098	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	59	cd07844	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	61_G	cd05093	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	53_G	cd05112	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	56_G	cd05067	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	56_G	cd05069	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	56_G	cd05068	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	57	cd05073	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	57	cd05072	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	56_G	cd05070	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	84_G	cd05033	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	66	cd05038	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	54	cd05052	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	56_G	cd05071	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	65	cd05061	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	65	cd05062	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	95	cd05051	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	61_G	cd07845	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	57	cd07835	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	57	cd05074	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	67	cd05035	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	276	smart00221	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	207	smart00219	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	89_G	pfam07714	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	82	pfam00069	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	61_G	cd05092	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	46	cd05579	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	44	cd05607	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	45	cd05633	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	45	cd05608	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	45	cd05606	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	53_G	cd08221	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	58	cd06625	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	56_G	cd08220	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	49	cd05577	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	78	cd05123	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	144	cd00180	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	172	smart00220	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	79	cd06639	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	114	cd05057	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	68	cd06638	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	62	cd06636	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	67_G	cd07865	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	46	cd08217	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	56_G	cd07846	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	56_G	cd05060	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	50	cd05047	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	48_G	cd05084	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	53_G	cd05044	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	49_G	cd05041	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	48_G	cd05085	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	56	cd07837	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	54_G	cd05040	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	51	cd05087	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	58_G	cd05058	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	63	cd06632	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	58	cd06631	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	105_G	cd00192	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	54_G	cd07839	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	55	cd06917	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	55	cd05118	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	83_G	cd06614	NULL
7046	195963412	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	75_G	cd05101	NULL
7046	547777	Disease	p.Gly174Val	190181.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190181	LOEYS-DIETZ SYNDROME, TYPE 2A	OMIM	No Domain	N/A	4759226,NP_004603
7040	63025222	Disease	p.Cys225Arg	190180.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190180	CAMURATI-ENGELMANN DISEASE	OMIM	399	pfam00688	NULL
7040	63025222	Disease	p.Arg218His	190180.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190180	CAMURATI-ENGELMANN DISEASE	OMIM	389	pfam00688	NULL
7040	63025222	Disease	p.Arg218Cys	190180.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190180	CAMURATI-ENGELMANN DISEASE	OMIM	389	pfam00688	NULL
7040	63025222	Disease	p.Tyr81His	190180.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190180	CAMURATI-ENGELMANN DISEASE	OMIM	135	pfam00688	NULL
7040	63025222	Disease	p.Cys223Arg	190180.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190180	CAMURATI-ENGELMANN DISEASE	OMIM	394	pfam00688	NULL
7040	63025222	Disease	p.Cys223Gly	190180.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190180	CAMURATI-ENGELMANN DISEASE	OMIM	394	pfam00688	NULL
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	626	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	121	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	84	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	115	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	104	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	154	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	164	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	122	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	183	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	148	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	147	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	125	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	119	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	170	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	222	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	211	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	160	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	134	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	140	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	626	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	121	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	84	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	115	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	104	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	154	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	164	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	122	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	183	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	148	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	147	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	125	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	119	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	170	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	222	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	211	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	160	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	134	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	140	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	626	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	121	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	84	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	115	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	104	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	154	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	164	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	122	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	183	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	148	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	147	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	125	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	119	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	170	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	222	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	211	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	160	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	134	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	140	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	190160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	234	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	350	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	218	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	373	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	228	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	274	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	280	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	294	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	263	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	226	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	235	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	227	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	276	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	230	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	335	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	352	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	270	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	254	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	275	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	234	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	350	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	218	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	373	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	228	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	274	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	280	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	294	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	263	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	226	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	235	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	227	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	276	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	230	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	335	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	352	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	270	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	254	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	275	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	234	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	350	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	218	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	373	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	228	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	274	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	280	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	294	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	263	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	226	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	235	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	227	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	276	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	230	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	335	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	352	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	270	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	254	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	190160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	275	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	418	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	117	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	76	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	110	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	87	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	75	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	101	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	140	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	159	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	104	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	178	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	88	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	143	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	143	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	114	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	120	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	114	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	164	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	114	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	217	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	206	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	143	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	128	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	135	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	101	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	418	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	117	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	76	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	110	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	87	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	75	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	101	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	140	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	159	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	104	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	178	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	88	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	143	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	143	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	114	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	120	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	114	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	164	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	114	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	217	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	206	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	143	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	128	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	135	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	101	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	418	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	117	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	76	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	110	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	87	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	75	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	101	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	140	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	159	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	104	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	178	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	88	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	143	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	143	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	114	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	120	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	114	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	164	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	114	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	217	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	206	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	143	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	128	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	135	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	101	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	190160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	182	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	52	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	54	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	52	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	49	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	19	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	85	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	116	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	79	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	70	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	153	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	65	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	100	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	120	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	91	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	91	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	141	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	91	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	195	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	183	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	86	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	107	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	112	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	52	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	86	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	182	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	52	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	54	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	52	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	49	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	19	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	85	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	116	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	79	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	70	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	153	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	65	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	100	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	120	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	91	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	91	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	141	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	91	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	195	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	183	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	86	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	107	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	112	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	52	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	86	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	182	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	52	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	54	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	52	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	49	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	19	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	85	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	116	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	79	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	70	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	153	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	65	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	100	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	120	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	91	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	91	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	141	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	91	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	195	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	183	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	86	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	107	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	112	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	52	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	190160.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	86	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	314	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	109	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	68	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	69	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	79	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	66	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	35	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	100	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	132	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	144	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	96	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	168	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	81	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	135	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	135	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	109	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	156	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	209	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	197	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	135_G	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	122	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	127	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	67	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	98	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	314	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	109	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	68	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	69	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	79	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	66	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	35	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	100	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	132	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	144	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	96	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	168	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	81	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	135	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	135	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	109	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	156	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	209	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	197	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	135_G	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	122	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	127	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	67	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	98	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	314	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	109	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	68	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	69	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	79	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	66	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	35	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	100	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	132	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	144	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	96	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	168	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	81	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	135	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	135	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	109	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	156	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	209	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	197	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	135_G	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	122	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	127	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	67	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	190160.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	98	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	626	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	121	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	84	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	115	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	104	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	154	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	164	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	122	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	183	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	148	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	147	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	125	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	119	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	170	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	222	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	211	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	160	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	134	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	140	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	626	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	121	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	84	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	115	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	104	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	154	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	164	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	122	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	183	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	148	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	147	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	125	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	119	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	170	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	222	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	211	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	160	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	134	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	140	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	626	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	121	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	84	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	115	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	104	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	154	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	164	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	122	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	183	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	148	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	147	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	125	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	119	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	170	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	222	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	211	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	160	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	134	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	140	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	190160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	651	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	123	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	86	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	117	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	110	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	112	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	120	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	156	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	166	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	124	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	185	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	96	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	150	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	149	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	120	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	127	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	121	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	172	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	120	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	226	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	213	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	162	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	136	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	142	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	651	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	123	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	86	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	117	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	110	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	112	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	120	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	156	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	166	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	124	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	185	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	96	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	150	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	149	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	120	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	127	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	121	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	172	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	120	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	226	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	213	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	162	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	136	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	142	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	651	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	123	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	86	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	117	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	110	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	112	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	120	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	156	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	166	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	124	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	185	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	96	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	150	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	149	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	120	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	127	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	121	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	172	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	120	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	226	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	213	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	162	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	136	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	142	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	190160.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	220	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	339	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	205	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	354	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	218	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	263	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	274	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	284	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	191	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	253	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	218	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	225	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	216	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	267	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	216	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	321	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	341	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	261	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	237	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	264	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	220	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	339	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	205	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	354	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	218	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	263	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	274	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	284	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	191	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	253	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	218	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	225	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	216	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	267	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	216	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	321	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	341	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	261	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	237	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	264	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	220	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	339	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	205	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	354	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	218	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	263	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	274	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	284	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	191	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	253	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	218	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	225	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	216	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	267	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	216	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	321	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	341	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	261	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	237	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	190160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	264	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	234	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	350	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	218	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	373	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	228	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	274	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	280	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	294	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	263	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	226	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	235	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	227	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	276	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	230	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	335	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	352	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	270	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	254	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	275	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	234	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	350	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	218	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	373	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	228	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	274	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	280	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	294	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	263	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	226	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	235	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	227	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	276	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	230	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	335	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	352	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	270	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	254	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	275	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	234	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	350	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	218	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	373	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	228	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	274	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	280	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	294	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	263	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	226	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	235	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	227	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	276	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	230	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	335	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	352	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	270	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	254	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	190160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	275	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	221	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	340	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	206	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	356	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	219	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	264	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	275	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	285	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	192	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	254	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	219	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	226	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	218	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	268	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	217	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	322	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	342	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	262	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	238	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	265	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	221	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	340	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	206	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	356	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	219	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	264	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	275	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	285	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	192	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	254	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	219	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	226	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	218	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	268	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	217	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	322	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	342	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	262	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	238	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	265	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	221	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	340	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	206	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	356	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	219	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	264	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	275	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	285	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	192	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	254	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	219	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	226	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	218	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	268	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	217	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	322	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	342	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	262	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	238	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	190160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	265	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	626	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	121	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	84	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	115	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	104	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	154	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	164	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	122	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	183	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	148	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	147	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	125	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	119	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	170	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	222	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	211	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	160	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	134	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	140	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	626	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	121	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	84	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	115	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	104	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	154	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	164	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	122	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	183	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	148	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	147	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	125	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	119	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	170	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	222	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	211	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	160	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	134	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	140	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	626	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	121	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	84	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	115	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	104	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	108	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	154	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	164	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	122	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	183	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	148	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	147	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	125	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	119	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	170	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	118	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	222	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	211	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	160	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	134	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	140	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	106	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	190160.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	190	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	97	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	55	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	57	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	55	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	52	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	22	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	88	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	119	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	82	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	76	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	156	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	68	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	123	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	123	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	97	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	144	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	198	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	186	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	89	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	110	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	115	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	55	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	89	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	190	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	97	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	55	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	57	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	55	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	52	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	22	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	88	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	119	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	82	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	76	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	156	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	68	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	123	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	123	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	97	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	144	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	198	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	186	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	89	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	110	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	115	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	55	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	89	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	190	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	97	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	55	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	57	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	55	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	52	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	22	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	88	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	119	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	82	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	76	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	156	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	68	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	123	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	123	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	97	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	144	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	198	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	186	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	89	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	110	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	115	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	55	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	190160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	89	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
79742	193804856	Disease	p.Arg320His	190160.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	MOVED TO 190160.0002	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Arg320His	190160.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	MOVED TO 190160.0002	OMIM	No Domain	N/A	193804854,NP_789789
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	18	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	14	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	76	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	17	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	17	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	16	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	15	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	17	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	17	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	120	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	21	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	16	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	19	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	19	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	18	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	14	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	76	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	17	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	17	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	16	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	15	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	17	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	17	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	120	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	21	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	16	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	19	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	19	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	18	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	14	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	76	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	17	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	17	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	16	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	15	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	17	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	17	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	120	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	21	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	16	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	19	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	190160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	19	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	181	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	93	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	51	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	53	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	51	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	48	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	18	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	84	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	115	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	78	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	69	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	152	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	64	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	99	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	119	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	90	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	93	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	90	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	140	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	90	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	194	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	182	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	85	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	106	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	111	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	51	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	81	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	181	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	93	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	51	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	53	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	51	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	48	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	18	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	84	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	115	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	78	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	69	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	152	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	64	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	99	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	119	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	90	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	93	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	90	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	140	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	90	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	194	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	182	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	85	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	106	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	111	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	51	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	81	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	181	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	93	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	51	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	53	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	51	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	48	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	18	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	84	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	115	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	78	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	69	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	152	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	64	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	99	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	119	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	90	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	93	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	90	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	140	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	90	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	194	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	182	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	85	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	106	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	111	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	51	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	190160.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	81	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	230	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	102	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	61	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	62	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	60	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	59	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	27	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	93	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	124	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	97	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	89	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	161	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	73	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	128	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	128	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	99	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	102	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	99	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	149	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	99	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	203	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	191	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	128	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	115	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	120	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	60	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	91	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	230	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	102	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	61	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	62	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	60	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	59	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	27	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	93	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	124	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	97	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	89	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	161	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	73	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	128	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	128	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	99	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	102	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	99	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	149	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	99	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	203	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	191	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	128	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	115	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	120	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	60	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	91	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	230	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	102	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	61	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	62	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	60	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	59	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	27	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	93	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	124	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	97	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	89	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	161	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	73	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	128	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	128	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	99	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	102	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	99	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	149	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	99	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	203	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	191	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	128	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	115	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	120	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	60	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu325Phe	190160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	91	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
79742	193804856	Disease	p.Leu325Phe	190160.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	MOVED TO 190160.0006	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Leu325Phe	190160.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	MOVED TO 190160.0006	OMIM	No Domain	N/A	193804854,NP_789789
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	190	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	97	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	55	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	57	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	55	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	52	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	22	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	88	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	119	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	82	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	76	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	156	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	68	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	123	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	123	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	97	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	144	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	198	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	186	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	89	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	110	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	115	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	55	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	89	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	190	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	97	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	55	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	57	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	55	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	52	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	22	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	88	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	119	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	82	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	76	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	156	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	68	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	123	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	123	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	97	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	144	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	198	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	186	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	89	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	110	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	115	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	55	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	89	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	190	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	97	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	55	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	57	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	55	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	52	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	22	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	88	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	119	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	82	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	76	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	156	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	68	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	123	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	123	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	97	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	144	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	94	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	198	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	186	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	89	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	110	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	115	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	55	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	190160.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	89	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
79742	193804856	Disease	p.Arg320Cys	190160.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	MOVED TO 190160.0015	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Arg320Cys	190160.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	MOVED TO 190160.0015	OMIM	No Domain	N/A	193804854,NP_789789
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	377	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	115	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	74	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	108	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	85	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	73	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	43	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	106	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	138	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	151	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	102	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	176	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	86	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	141	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	141	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	112	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	115	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	112	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	162	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	112	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	215	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	204	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	141	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	127_G	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	133	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	99	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	104	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	377	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	115	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	74	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	108	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	85	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	73	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	43	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	106	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	138	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	151	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	102	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	176	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	86	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	141	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	141	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	112	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	115	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	112	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	162	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	112	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	215	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	204	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	141	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	127_G	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	133	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	99	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	104	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	377	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	115	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	74	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	108	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	85	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	73	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	43	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	106	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	138	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	151	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	102	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	176	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	86	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	141	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	141	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	112	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	115	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	112	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	162	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	112	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	215	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	204	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	141	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	127_G	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	133	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	99	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	190160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT||THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	104	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	216	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	196	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	237	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	201	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	343	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	214	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	259	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	270	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	231	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	280	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	187	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	243	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	249	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	214	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	221	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	212	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	263	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	212	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	317	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	337	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	257	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	233	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	260	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	243	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	216	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	196	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	237	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	201	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	343	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	214	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	259	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	270	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	231	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	280	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	187	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	243	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	249	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	214	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	221	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	212	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	263	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	212	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	317	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	337	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	257	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	233	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	260	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	243	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	216	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	196	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	237	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	201	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	343	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	214	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	259	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	270	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	231	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	280	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	187	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	243	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	249	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	214	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	221	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	212	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	263	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	212	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	317	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	337	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	257	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	233	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	260	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	190160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	243	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	174	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	87	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	45	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	46	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	45	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	42	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	11	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	78	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	109	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	72	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	63	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	146	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	58	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	86	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	113	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	84	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	87	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	84	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	134	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	84	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	188	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	176	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	79	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	100	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	105	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	44	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	75	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	174	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	87	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	45	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	46	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	45	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	42	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	11	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	78	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	109	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	72	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	63	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	146	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	58	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	86	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	113	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	84	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	87	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	84	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	134	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	84	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	188	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	176	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	79	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	100	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	105	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	44	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	75	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	174	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	87	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	45	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	46	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	45	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	42	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	11	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	78	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	109	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	72	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	63	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	146	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	58	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	86	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	113	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	84	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	87	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	84	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	134	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	84	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	188	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	176	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	79	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	100	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	105	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	44	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met310Thr	190160.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	75	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	195	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	99	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	57	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	59	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	57	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	54	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	24	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	90	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	121	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	84	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	78	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	158	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	70	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	125	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	125	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	96	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	99	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	96	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	146	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	96	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	200	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	188	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	91	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	112	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	117	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	57	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	90_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	195	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	99	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	57	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	59	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	57	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	54	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	24	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	90	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	121	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	84	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	78	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	158	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	70	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	125	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	125	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	96	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	99	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	96	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	146	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	96	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	200	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	188	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	91	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	112	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	117	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	57	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	90_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	195	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	99	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	57	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	59	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	57	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	54	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	24	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	90	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	121	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	84	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	78	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	158	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	70	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	125	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	125	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	96	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	99	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	96	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	146	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	96	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	200	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	188	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	91	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	112	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	117	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	57	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asp322His	190160.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	90_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
79742	193804856	Disease	p.Asp322His	190160.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	MOVED TO 190160.0004	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Asp322His	190160.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	MOVED TO 190160.0004	OMIM	No Domain	N/A	193804854,NP_789789
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	626	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	121	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	84	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	115	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	104	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	108	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	108	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	118	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	154	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	164	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	122	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	183	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	94	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	148	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	147	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	118	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	125	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	119	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	170	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	118	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	222	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	211	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	160	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	134	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	140	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	106	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	626	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	121	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	84	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	115	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	104	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	108	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	108	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	118	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	154	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	164	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	122	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	183	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	94	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	148	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	147	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	118	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	125	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	119	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	170	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	118	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	222	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	211	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	160	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	134	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	140	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	106	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	626	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	121	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	84	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	115	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	104	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	108	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	108	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	118	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	154	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	164	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	122	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	183	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	94	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	148	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	147	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	118	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	125	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	119	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	170	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	118	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	222	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	211	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	160	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	134	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	140	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	106	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Asp	190160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	231	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	347	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	215	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	370	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	226	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	271	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	278_G	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	292	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	261	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	223	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	232	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	225	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	273	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	227	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	332	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	349	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	267_G	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	251	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	272	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	231	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	347	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	215	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	370	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	226	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	271	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	278_G	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	292	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	261	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	223	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	232	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	225	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	273	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	227	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	332	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	349	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	267_G	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	251	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	272	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	231	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	347	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	215	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	370	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	226	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	271	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	278_G	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	292	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	261	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	223	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	232	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	225	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	273	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	227	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	332	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	349	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	267_G	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	251	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu450His	190160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	272	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	240	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	224	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	280	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	300	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	269	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	238	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	241	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	233	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	282	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	236	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	341	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	240	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	224	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	280	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	300	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	269	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	238	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	241	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	233	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	282	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	236	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	341	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	240	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	224	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	280	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	300	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	269	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	238	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	241	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	233	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	282	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	236	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	190160.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED	OMIM	341	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	190	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	97	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	55	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	57	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	55	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	52	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	22	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	88	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	119	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	82	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	76	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	156	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	68	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	123	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	123	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	94	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	97	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	94	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	144	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	94	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	198	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	186	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	89	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	110	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	115	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	55	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	89	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	190	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	97	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	55	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	57	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	55	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	52	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	22	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	88	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	119	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	82	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	76	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	156	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	68	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	123	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	123	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	94	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	97	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	94	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	144	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	94	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	198	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	186	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	89	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	110	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	115	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	55	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	89	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	190	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	97	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	55	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	57	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	55	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	52	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	22	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	88	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	119	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	82	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	76	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	156	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	68	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	123	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	123	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	94	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	97	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	94	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	144	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	94	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	198	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	186	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	89	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	110	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	115	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	55	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Leu	190160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	89	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	226	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	343	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	209	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	363	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	222	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	267	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	278	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	288	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	257	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	221_G	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	229	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	221	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	270_G	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	223	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	325	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	345	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	265	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	247	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	268	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	226	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	343	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	209	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	363	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	222	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	267	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	278	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	288	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	257	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	221_G	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	229	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	221	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	270_G	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	223	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	325	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	345	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	265	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	247	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	268	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	226	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	343	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	209	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	363	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	222	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	267	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	278	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	288	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	257	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	221_G	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	229	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	221	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	270_G	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	223	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	325	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	345	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	265	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	247	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	190160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	268	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	239	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	223	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	279	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	299	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	268	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	237	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	240	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	232	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	281	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	235	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	340	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	259	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	239	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	223	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	279	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	299	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	268	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	237	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	240	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	232	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	281	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	235	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	340	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	259	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	239	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	223	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	279	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	299	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	268	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	237	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	240	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	232	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	281	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	235	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	340	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val458Ala	190160.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	259	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	27	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	23	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	80	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	35	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	25	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	25	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	24	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	26	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	26	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	129	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	35	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	25	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	40	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	28	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	27	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	23	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	80	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	35	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	25	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	25	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	24	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	26	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	26	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	129	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	35	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	25	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	40	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	28	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	27	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	23	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	80	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	35	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	25	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	25	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	24	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	26	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	26	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	129	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	35	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	25	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	40	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Gln	190160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	28	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	27	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	23	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	80	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	35	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	25	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	25	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	24	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	26	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	26	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	129	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	35	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	25	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	40	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	28	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	27	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	23	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	80	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	35	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	25	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	25	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	24	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	26	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	26	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	129	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	35	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	25	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	40	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	28	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	27	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	23	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	80	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	35	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	25	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	25	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	24	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	26	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	26	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	129	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	35	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	25	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	40	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	190160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	28	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	759	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	158	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	123	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	156	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	142	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	147	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	177	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	157	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	192	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	201	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	162	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	221	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	132	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	187	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	188	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	155	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	163	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	157	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	208	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	155	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	262	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	249	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	202	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	174	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	178	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	144	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	145	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	759	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	158	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	123	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	156	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	142	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	147	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	177	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	157	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	192	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	201	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	162	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	221	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	132	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	187	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	188	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	155	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	163	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	157	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	208	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	155	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	262	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	249	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	202	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	174	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	178	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	144	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	145	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	759	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	158	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	123	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	156	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	142	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	147	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	177	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	157	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	192	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	201	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	162	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	221	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	132	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	187	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	188	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	155	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	163	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	157	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	208	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	155	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	262	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	249	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	202	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	174	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	178	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	144	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg383His	190160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	OMIM	145	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	376	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	114	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	73	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	107	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	84	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	72	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	42	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	105	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	137	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	150	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	101	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	175	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	85	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	140	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	140	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	111	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	114	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	111	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	161	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	111	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	214	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	202	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	140	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	127	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	132	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	98	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	103	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	376	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	114	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	73	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	107	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	84	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	72	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	42	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	105	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	137	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	150	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	101	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	175	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	85	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	140	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	140	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	111	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	114	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	111	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	161	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	111	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	214	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	202	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	140	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	127	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	132	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	98	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	103	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	376	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	114	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	73	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	107	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	84	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	72	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	42	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	105	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	137	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	150	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	101	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	175	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	85	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	140	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	140	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	111	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	114	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	111	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	161	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	111	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	214	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	202	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	140	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	127	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	132	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	98	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr337Ala	190160.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190160	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	OMIM	103	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	smart00174	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	124	cd00880	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	306	cd00882	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	193	cd00154	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd04119	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd04115	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	116	cd04107	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd04135	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04142	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd04132	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd04143	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd04125	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd04109	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd04124	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd04103	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd01861	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd04113	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04117	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd04130	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd04106	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd04116	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	108	cd01864	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd01863	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd04122	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd01869	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	smart00175	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	smart00173	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd04139	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	129	cd00157	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	145	cd04112	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd04111	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04108	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd04126	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04120	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd04118	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd01862	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd04123	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd01868	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd04101	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd04148	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd04110	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd00877	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd01866	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd04114	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd01875	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	101	smart00010	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	172	COG1100	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd01871	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd01874	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd01865	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04175	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd04140	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04131	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd01870	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04176	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	103	cd01860	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04138	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04136	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04177	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04129	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd04137	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd04133	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	smart00176	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	76	cd01873	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd04141	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd01867	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd04145	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	81	pfam08477	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd01893	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd00876	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	pfam00071	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	102	cd04146	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	121	cd00878	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd04147	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04134	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd04144	NULL
3845	15718761	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd04127	NULL
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	smart00174	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	306	cd00882	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	124	cd00880	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04142	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd04132	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd04109	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd04143	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd04125	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	193	cd00154	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04108	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd04115	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd04119	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd04135	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd04148	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd04110	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd04124	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd01863	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd04106	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd04103	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd04130	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd04113	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd04116	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04117	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd01861	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	108	cd01864	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	smart00173	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd04122	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	smart00175	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd01869	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd04139	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd04111	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	116	cd04107	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	129	cd00157	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd04118	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04120	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	145	cd04112	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd01862	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd04123	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd04101	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd01868	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd00877	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd01866	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd04114	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd01875	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	172	COG1100	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	101	smart00010	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04177	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd04137	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04175	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04131	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04129	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd04133	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd01874	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd01865	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd01871	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd01870	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04176	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04136	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	103	cd01860	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd04140	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04138	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	smart00176	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	76	cd01873	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd04141	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd01867	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd04145	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd04144	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd04147	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	pfam00071	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	102	cd04146	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd04134	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd04127	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd00876	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd01893	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	81	pfam08477	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	190070.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	121	cd00878	15718763,NP_203524
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	229	smart00174	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	431	cd00880	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	754	cd00882	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	412	cd00154	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	256	cd04119	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	183	cd04115	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	259	cd04107	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	168	cd04135	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	164	cd04142	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	223	cd04132	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	169	cd04143	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	195	cd04125	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	181	cd04109	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	148	cd04124	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	151	cd04103	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	167	cd01861	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	213	cd04113	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	154	cd04117	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	190	cd04130	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	152	cd04106	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	162	cd04116	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	230	cd01864	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	178	cd01863	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	153	cd04122	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	155	cd01869	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	226	smart00175	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	188	smart00173	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	179	cd04139	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	310	cd00157	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	241	cd04112	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	168	cd04111	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	178	cd04108	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	207	cd04126	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	152	cd04120	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	155	cd04118	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	179	cd01862	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	163	cd04123	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	170	cd01868	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	156	cd04101	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	240	cd04148	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	157	cd04110	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	168	cd00877	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	156	cd01866	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	159	cd04114	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	166	cd01875	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	371	smart00010	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	421	COG1100	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	164	cd01871	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	164	cd01874	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	152	cd01865	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	153	cd04175	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	156	cd04140	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	165	cd04131	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	165	cd01870	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	159	cd04176	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	254	cd01860	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	153	cd04138	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	160	cd04136	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	153	cd04177	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	165	cd04129	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	170	cd04137	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	164	cd04133	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	143	smart00176	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	199	cd01873	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	154	cd04141	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	155	cd01867	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	154	cd04145	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	183	cd01893	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	239	cd00876	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	217	pfam00071	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	221	cd04146	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	295	cd00878	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	156	cd04147	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	185	cd04134	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	184	cd04144	NULL
3845	15718761	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	166	cd04127	NULL
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	229	smart00174	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	754	cd00882	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	427	cd00880	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	164	cd04142	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	223	cd04132	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	167	cd04109	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	169	cd04143	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	195	cd04125	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	412	cd00154	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	178	cd04108	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	183	cd04115	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	256	cd04119	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	167	cd04135	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	240	cd04148	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	157	cd04110	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	148	cd04124	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	178	cd01863	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	152	cd04106	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	151	cd04103	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	190	cd04130	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	213	cd04113	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	162	cd04116	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	154	cd04117	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	167	cd01861	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	230	cd01864	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	188	smart00173	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	153	cd04122	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	226	smart00175	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	155	cd01869	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	179	cd04139	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	168	cd04111	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	259	cd04107	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	310	cd00157	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	155	cd04118	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	152	cd04120	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	241	cd04112	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	179	cd01862	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	163	cd04123	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	156	cd04101	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	170	cd01868	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	168	cd00877	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	156	cd01866	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	159	cd04114	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	166	cd01875	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	421	COG1100	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	358	smart00010	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	153	cd04177	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	170	cd04137	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	153	cd04175	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	165	cd04131	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	165	cd04129	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	164	cd04133	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	164	cd01874	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	152	cd01865	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	148	cd01871	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	165	cd01870	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	159	cd04176	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	160	cd04136	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	254	cd01860	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	156	cd04140	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	153	cd04138	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	143	smart00176	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	199	cd01873	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	154	cd04141	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	155	cd01867	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	154	cd04145	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	184	cd04144	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	156	cd04147	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	217	pfam00071	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	221	cd04146	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	185	cd04134	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	166	cd04127	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	239	cd00876	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	183	cd01893	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME||NOONAN SYNDROME 3	OMIM	295	cd00878	15718763,NP_203524
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	84	smart00174	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	122	cd00880	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	304	cd00882	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	191	cd00154	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	86	cd04119	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04115	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	114	cd04107	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	55	cd04135	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04142	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04132	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd04143	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	81	cd04125	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04109	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd04124	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	54	cd04103	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd01861	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd04113	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04117	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	55	cd04130	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04106	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	61	cd04116	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	106	cd01864	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	66	cd01863	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04122	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd01869	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	77	smart00175	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	smart00173	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	78	cd04139	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	127	cd00157	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	143	cd04112	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	63	cd04111	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04108	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	51	cd04126	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04120	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd04118	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd01862	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	66	cd04123	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	63	cd01868	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd04101	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	82	cd04148	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	62	cd04110	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	62	cd00877	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd01866	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	63	cd04114	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd01875	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	99	smart00010	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	170	COG1100	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd01871	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd01874	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd01865	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04175	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd04140	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04131	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd01870	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04176	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	101	cd01860	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04138	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04136	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04177	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04129	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	62	cd04137	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04133	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	51	smart00176	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	74	cd01873	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd04141	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd01867	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd04145	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	79	pfam08477	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd01893	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd00876	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	70	pfam00071	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	100	cd04146	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	119	cd00878	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	55	cd04147	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04134	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	54	cd04144	NULL
3845	15718761	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	70	cd04127	NULL
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	84	smart00174	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	304	cd00882	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	122	cd00880	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04142	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04132	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04109	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd04143	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	81	cd04125	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	191	cd00154	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04108	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04115	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	86	cd04119	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	55	cd04135	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	82	cd04148	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	62	cd04110	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd04124	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	66	cd01863	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04106	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	54	cd04103	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	55	cd04130	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd04113	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	61	cd04116	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04117	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd01861	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	106	cd01864	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	smart00173	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04122	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	77	smart00175	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd01869	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	78	cd04139	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	63	cd04111	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	114	cd04107	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	127	cd00157	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd04118	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04120	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	143	cd04112	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd01862	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	66	cd04123	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd04101	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	63	cd01868	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	62	cd00877	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd01866	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	63	cd04114	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd01875	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	170	COG1100	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	99	smart00010	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04177	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	62	cd04137	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04175	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04131	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04129	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04133	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd01874	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd01865	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd01871	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd01870	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04176	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04136	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	101	cd01860	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd04140	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04138	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	51	smart00176	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	74	cd01873	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd04141	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd01867	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd04145	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	54	cd04144	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	55	cd04147	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	70	pfam00071	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	100	cd04146	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04134	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	70	cd04127	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd00876	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd01893	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	79	pfam08477	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	190070.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	119	cd00878	15718763,NP_203524
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	9	smart00174	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	7	cd00880	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	7	cd00882	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd00154	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04119	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	13	cd04115	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04107	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04135	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04142	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04132	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04143	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04125	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04109	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04124	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04103	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd01861	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04113	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04117	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04130	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04106	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	16	cd04116	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	14	cd01864	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd01863	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	13	cd04122	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	13	cd01869	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	smart00175	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	smart00173	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04139	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd00157	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04112	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	13	cd04111	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04108	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04126	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04120	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04118	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd01862	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04123	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	14	cd01868	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04101	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04148	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	17	cd04110	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd00877	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	15	cd01866	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	18	cd04114	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	14	cd01875	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	16	smart00010	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	37	COG1100	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd01871	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd01874	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd01865	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd04175	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd04140	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd04131	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd01870	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd04176	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd01860	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd04138	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd04136	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd04177	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd04129	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd04137	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd04133	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	6	smart00176	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	13	cd01873	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	13	cd04141	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	14	cd01867	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	13	cd04145	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	10	pfam08477	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd01893	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	10	cd00876	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	10	pfam00071	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	10	cd04146	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	10	cd00878	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	10	cd04147	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04134	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	10	cd04144	NULL
3845	15718761	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	15	cd04127	NULL
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	9	smart00174	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	7	cd00882	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	7	cd00880	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04142	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04132	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04109	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04143	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04125	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd00154	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04108	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	13	cd04115	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04119	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04135	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04148	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	17	cd04110	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04124	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd01863	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04106	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04103	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04130	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04113	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	16	cd04116	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04117	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd01861	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	14	cd01864	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	smart00173	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	13	cd04122	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	smart00175	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	13	cd01869	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04139	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	13	cd04111	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04107	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd00157	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04118	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04120	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04112	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd01862	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04123	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04101	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	14	cd01868	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd00877	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	15	cd01866	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	18	cd04114	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	14	cd01875	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	37	COG1100	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	16	smart00010	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd04177	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd04137	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd04175	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd04131	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd04129	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd04133	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd01874	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd01865	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd01871	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd01870	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd04176	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd04136	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd01860	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd04140	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	12	cd04138	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	6	smart00176	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	13	cd01873	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	13	cd04141	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	14	cd01867	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	13	cd04145	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	10	cd04144	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	10	cd04147	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	10	pfam00071	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	10	cd04146	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd04134	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	15	cd04127	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	10	cd00876	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	11	cd01893	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	10	pfam08477	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	190070.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	10	cd00878	15718763,NP_203524
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	29	smart00174	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd00880	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	145	cd00882	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	128	cd00154	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04119	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd04115	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04107	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04135	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04142	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04132	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd04143	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd04125	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04109	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd04124	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04103	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd01861	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04113	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04117	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04130	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04106	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd04116	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd01864	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd01863	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd04122	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd01869	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	smart00175	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	smart00173	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd04139	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37	cd00157	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	118	cd04112	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37	cd04111	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04108	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	30	cd04126	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04120	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04118	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd01862	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04123	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd01868	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd04101	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd04148	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37	cd04110	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd00877	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd01866	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd04114	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd01875	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	smart00010	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	109	COG1100	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd01871	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd01874	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd01865	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04175	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04140	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04131	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd01870	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04176	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd01860	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04138	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04136	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04177	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04129	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd04137	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd04133	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	26	smart00176	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd01873	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd04141	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd01867	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd04145	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	40	pfam08477	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd01893	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd00876	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	30	pfam00071	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	30	cd04146	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37	cd00878	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	30	cd04147	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04134	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	30	cd04144	NULL
3845	15718761	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd04127	NULL
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	29	smart00174	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	145	cd00882	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd00880	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04142	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04132	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04109	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd04143	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd04125	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	128	cd00154	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04108	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd04115	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04119	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04135	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd04148	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37	cd04110	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd04124	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd01863	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04106	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04103	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04130	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04113	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd04116	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04117	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd01861	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd01864	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	smart00173	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd04122	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	smart00175	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd01869	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd04139	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37	cd04111	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04107	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37	cd00157	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04118	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04120	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	118	cd04112	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd01862	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04123	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd04101	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd01868	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd00877	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd01866	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd04114	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd01875	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	109	COG1100	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	smart00010	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04177	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd04137	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04175	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04131	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04129	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd04133	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd01874	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd01865	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd01871	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd01870	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04176	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04136	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd01860	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04140	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd04138	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	26	smart00176	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd01873	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd04141	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd01867	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd04145	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	30	cd04144	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	30	cd04147	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	30	pfam00071	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	30	cd04146	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd04134	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd04127	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd00876	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd01893	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	40	pfam08477	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	190070.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37	cd00878	15718763,NP_203524
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	228	smart00174	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	430	cd00880	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	753	cd00882	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	411	cd00154	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	255	cd04119	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	182	cd04115	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	258	cd04107	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	163	cd04135	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	163	cd04142	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	222	cd04132	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	168	cd04143	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	194	cd04125	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	180	cd04109	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	147	cd04124	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	150	cd04103	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	166	cd01861	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	212	cd04113	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	153	cd04117	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	189	cd04130	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	151	cd04106	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	161	cd04116	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	229	cd01864	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	177	cd01863	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	152	cd04122	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	154	cd01869	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	225	smart00175	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	187	smart00173	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	178	cd04139	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	309	cd00157	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	240	cd04112	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	167	cd04111	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	177	cd04108	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	206	cd04126	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	151	cd04120	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	154	cd04118	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	178	cd01862	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	162	cd04123	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	169	cd01868	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	155	cd04101	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	239	cd04148	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	156	cd04110	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	167	cd00877	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	155	cd01866	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	158	cd04114	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	165	cd01875	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	370	smart00010	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	420	COG1100	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	163	cd01871	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	163	cd01874	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	151	cd01865	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	152	cd04175	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	155	cd04140	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	164	cd04131	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	164	cd01870	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	158	cd04176	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	253	cd01860	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	152	cd04138	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	159	cd04136	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	152	cd04177	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	164	cd04129	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	169	cd04137	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	163	cd04133	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	142	smart00176	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	198	cd01873	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	153	cd04141	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	154	cd01867	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	153	cd04145	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	182	cd01893	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	238	cd00876	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	216	pfam00071	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	220	cd04146	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	294	cd00878	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	155	cd04147	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	184	cd04134	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	183	cd04144	NULL
3845	15718761	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	165	cd04127	NULL
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	228	smart00174	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	753	cd00882	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	426	cd00880	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	163	cd04142	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	222	cd04132	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	166	cd04109	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	168	cd04143	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	194	cd04125	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	411	cd00154	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	177	cd04108	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	182	cd04115	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	255	cd04119	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	166	cd04135	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	239	cd04148	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	156	cd04110	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	147	cd04124	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	177	cd01863	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	151	cd04106	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	150	cd04103	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	189	cd04130	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	212	cd04113	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	161	cd04116	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	153	cd04117	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	166	cd01861	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	229	cd01864	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	187	smart00173	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	152	cd04122	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	225	smart00175	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	154	cd01869	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	178	cd04139	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	167	cd04111	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	258	cd04107	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	309	cd00157	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	154	cd04118	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	151	cd04120	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	240	cd04112	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	178	cd01862	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	162	cd04123	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	155	cd04101	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	169	cd01868	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	167	cd00877	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	155	cd01866	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	158	cd04114	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	165	cd01875	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	420	COG1100	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	357	smart00010	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	152	cd04177	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	169	cd04137	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	152	cd04175	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	164	cd04131	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	164	cd04129	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	163	cd04133	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	163	cd01874	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	151	cd01865	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	147	cd01871	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	164	cd01870	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	158	cd04176	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	159	cd04136	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	253	cd01860	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	155	cd04140	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	152	cd04138	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	142	smart00176	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	198	cd01873	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	153	cd04141	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	154	cd01867	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	153	cd04145	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	183	cd04144	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	155	cd04147	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	216	pfam00071	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	220	cd04146	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	184	cd04134	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	165	cd04127	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	238	cd00876	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	182	cd01893	15718763,NP_203524
3845	131875	Disease	p.Val152Gly	190070.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	294	cd00878	15718763,NP_203524
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	229	smart00174	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	431	cd00880	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	754	cd00882	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	412	cd00154	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	256	cd04119	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	183	cd04115	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	259	cd04107	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	168	cd04135	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	164	cd04142	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	223	cd04132	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	169	cd04143	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	195	cd04125	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	181	cd04109	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	148	cd04124	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	151	cd04103	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	167	cd01861	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	213	cd04113	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	154	cd04117	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	190	cd04130	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	152	cd04106	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	162	cd04116	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	230	cd01864	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	178	cd01863	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	153	cd04122	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	155	cd01869	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	226	smart00175	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	188	smart00173	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	179	cd04139	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	310	cd00157	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	241	cd04112	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	168	cd04111	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	178	cd04108	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	207	cd04126	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	152	cd04120	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	155	cd04118	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	179	cd01862	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	163	cd04123	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	170	cd01868	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	156	cd04101	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	240	cd04148	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	157	cd04110	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	168	cd00877	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	156	cd01866	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	159	cd04114	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	166	cd01875	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	371	smart00010	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	421	COG1100	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	164	cd01871	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	164	cd01874	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	152	cd01865	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	153	cd04175	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	156	cd04140	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	165	cd04131	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	165	cd01870	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	159	cd04176	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	254	cd01860	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	153	cd04138	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	160	cd04136	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	153	cd04177	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	165	cd04129	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	170	cd04137	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	164	cd04133	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	143	smart00176	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	199	cd01873	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	154	cd04141	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	155	cd01867	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	154	cd04145	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	183	cd01893	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	239	cd00876	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	217	pfam00071	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	221	cd04146	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	295	cd00878	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	156	cd04147	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	185	cd04134	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	184	cd04144	NULL
3845	15718761	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	166	cd04127	NULL
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	229	smart00174	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	754	cd00882	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	427	cd00880	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	164	cd04142	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	223	cd04132	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	167	cd04109	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	169	cd04143	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	195	cd04125	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	412	cd00154	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	178	cd04108	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	183	cd04115	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	256	cd04119	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	167	cd04135	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	240	cd04148	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	157	cd04110	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	148	cd04124	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	178	cd01863	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	152	cd04106	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	151	cd04103	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	190	cd04130	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	213	cd04113	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	162	cd04116	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	154	cd04117	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	167	cd01861	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	230	cd01864	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	188	smart00173	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	153	cd04122	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	226	smart00175	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	155	cd01869	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	179	cd04139	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	168	cd04111	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	259	cd04107	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	310	cd00157	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	155	cd04118	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	152	cd04120	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	241	cd04112	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	179	cd01862	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	163	cd04123	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	156	cd04101	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	170	cd01868	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	168	cd00877	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	156	cd01866	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	159	cd04114	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	166	cd01875	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	421	COG1100	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	358	smart00010	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	153	cd04177	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	170	cd04137	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	153	cd04175	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	165	cd04131	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	165	cd04129	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	164	cd04133	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	164	cd01874	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	152	cd01865	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	148	cd01871	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	165	cd01870	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	159	cd04176	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	160	cd04136	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	254	cd01860	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	156	cd04140	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	153	cd04138	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	143	smart00176	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	199	cd01873	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	154	cd04141	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	155	cd01867	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	154	cd04145	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	184	cd04144	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	156	cd04147	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	217	pfam00071	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	221	cd04146	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	185	cd04134	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	166	cd04127	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	239	cd00876	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	183	cd01893	15718763,NP_203524
3845	131875	Disease	p.Asp153Val	190070.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	295	cd00878	15718763,NP_203524
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	8	smart00174	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	6	cd00880	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	6	cd00882	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd00154	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04119	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	12	cd04115	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04107	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04135	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04142	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04132	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04143	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04125	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04109	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04124	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04103	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd01861	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04113	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04117	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04130	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04106	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	15	cd04116	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	13	cd01864	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd01863	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	12	cd04122	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	12	cd01869	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	smart00175	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	smart00173	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04139	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd00157	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04112	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	12	cd04111	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04108	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04126	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04120	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04118	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd01862	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04123	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	13	cd01868	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04101	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04148	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	16	cd04110	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd00877	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	14	cd01866	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	17	cd04114	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	13	cd01875	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	15	smart00010	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	36	COG1100	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd01871	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd01874	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd01865	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd04175	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd04140	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd04131	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd01870	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd04176	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd01860	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd04138	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd04136	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd04177	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd04129	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd04137	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd04133	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	5	smart00176	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	12	cd01873	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	12	cd04141	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	13	cd01867	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	12	cd04145	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	9	pfam08477	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd01893	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	9	cd00876	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	9	pfam00071	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	9	cd04146	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	9	cd00878	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	9	cd04147	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04134	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	9	cd04144	NULL
3845	15718761	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	14	cd04127	NULL
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	8	smart00174	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	6	cd00882	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	6	cd00880	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04142	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04132	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04109	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04143	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04125	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd00154	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04108	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	12	cd04115	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04119	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04135	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04148	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	16	cd04110	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04124	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd01863	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04106	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04103	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04130	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04113	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	15	cd04116	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04117	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd01861	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	13	cd01864	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	smart00173	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	12	cd04122	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	smart00175	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	12	cd01869	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04139	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	12	cd04111	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04107	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd00157	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04118	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04120	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04112	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd01862	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04123	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04101	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	13	cd01868	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd00877	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	14	cd01866	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	17	cd04114	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	13	cd01875	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	36	COG1100	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	15	smart00010	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd04177	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd04137	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd04175	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd04131	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd04129	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd04133	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd01874	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd01865	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd01871	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd01870	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd04176	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd04136	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd01860	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd04140	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	11	cd04138	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	5	smart00176	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	12	cd01873	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	12	cd04141	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	13	cd01867	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	12	cd04145	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	9	cd04144	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	9	cd04147	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	9	pfam00071	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	9	cd04146	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd04134	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	14	cd04127	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	9	cd00876	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	10	cd01893	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	9	pfam08477	15718763,NP_203524
3845	131875	Disease	p.Gly13Arg	190070.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	PILOCYTIC ASTROCYTOMA, SOMATIC	OMIM	9	cd00878	15718763,NP_203524
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd00154	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04119	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	4	cd04115	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04107	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04135	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04142	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04132	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04143	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04125	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04109	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04124	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04103	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd01861	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04113	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04117	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04130	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04106	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	7	cd04116	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	5	cd01864	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd01863	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	4	cd04122	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	4	cd01869	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	smart00175	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	smart00173	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04139	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd00157	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04112	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	4	cd04111	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04108	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04126	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04120	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04118	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd01862	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04123	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	5	cd01868	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04101	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04148	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	8	cd04110	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd00877	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	6	cd01866	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd04114	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	5	cd01875	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	5	smart00010	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	COG1100	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd01871	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd01874	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd01865	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd04175	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd04140	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd04131	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd01870	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd04176	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd01860	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd04138	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd04136	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd04177	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd04129	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd04137	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd04133	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	4	cd01873	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	4	cd04141	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	5	cd01867	NULL
3845	15718761	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	4	cd04145	NULL
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04142	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04132	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04109	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04143	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04125	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd00154	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04108	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	4	cd04115	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04119	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04135	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04148	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	8	cd04110	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04124	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd01863	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04106	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04103	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04130	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04113	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	7	cd04116	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04117	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd01861	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	5	cd01864	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	smart00173	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	4	cd04122	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	smart00175	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	4	cd01869	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04139	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	4	cd04111	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04107	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd00157	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04118	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04120	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04112	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd01862	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04123	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd04101	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	5	cd01868	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	2	cd00877	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	6	cd01866	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd04114	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	5	cd01875	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	COG1100	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	5	smart00010	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd04177	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd04137	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd04175	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd04131	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd04129	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd04133	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd01874	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd01865	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd01871	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd01870	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd04176	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd04136	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd01860	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd04140	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd04138	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	4	cd01873	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	4	cd04141	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	5	cd01867	15718763,NP_203524
3845	131875	Disease	p.Lys5Asn	190070.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	4	cd04145	15718763,NP_203524
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	232	smart00174	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	434	cd00880	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	757	cd00882	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	415	cd00154	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	259	cd04119	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	186	cd04115	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	262	cd04107	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	171	cd04135	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	167	cd04142	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	226	cd04132	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	172	cd04143	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	198	cd04125	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	190	cd04109	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	151	cd04124	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	154	cd04103	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	170	cd01861	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	216	cd04113	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	157	cd04117	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	193	cd04130	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	155	cd04106	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	165	cd04116	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	233	cd01864	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	181	cd01863	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	156	cd04122	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	158	cd01869	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	229	smart00175	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	191	smart00173	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	182	cd04139	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	313	cd00157	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	244	cd04112	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	171	cd04111	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	181	cd04108	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	210	cd04126	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	155	cd04120	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	158	cd04118	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	182	cd01862	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	166	cd04123	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	173	cd01868	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	159	cd04101	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	243	cd04148	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	160	cd04110	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	171	cd00877	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	159	cd01866	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	162	cd04114	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	169	cd01875	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	374	smart00010	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	424	COG1100	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	167	cd01871	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	167	cd01874	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	155	cd01865	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	156	cd04175	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	159	cd04140	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	168	cd04131	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	168	cd01870	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	162	cd04176	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	257	cd01860	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	156	cd04138	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	163	cd04136	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	156	cd04177	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	168	cd04129	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	173	cd04137	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	167	cd04133	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	146	smart00176	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	202	cd01873	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	157	cd04141	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	158	cd01867	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	157	cd04145	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	186	cd01893	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	242	cd00876	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	220	pfam00071	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	224	cd04146	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	298	cd00878	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	159	cd04147	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	188	cd04134	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	187	cd04144	NULL
3845	15718761	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	169	cd04127	NULL
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	232	smart00174	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	757	cd00882	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	430	cd00880	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	167	cd04142	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	226	cd04132	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	170	cd04109	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	172	cd04143	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	198	cd04125	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	415	cd00154	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	181	cd04108	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	186	cd04115	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	259	cd04119	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	171	cd04135	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	243	cd04148	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	160	cd04110	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	151	cd04124	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	181	cd01863	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	155	cd04106	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	154	cd04103	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	193	cd04130	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	216	cd04113	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	165	cd04116	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	157	cd04117	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	170	cd01861	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	233	cd01864	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	191	smart00173	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	156	cd04122	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	229	smart00175	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	158	cd01869	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	182	cd04139	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	171	cd04111	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	262	cd04107	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	313	cd00157	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	158	cd04118	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	155	cd04120	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	244	cd04112	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	182	cd01862	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	166	cd04123	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	159	cd04101	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	173	cd01868	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	171	cd00877	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	159	cd01866	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	162	cd04114	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	169	cd01875	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	424	COG1100	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	374	smart00010	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	156	cd04177	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	173	cd04137	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	156	cd04175	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	168	cd04131	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	168	cd04129	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	167	cd04133	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	167	cd01874	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	155	cd01865	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	151	cd01871	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	168	cd01870	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	162	cd04176	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	163	cd04136	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	257	cd01860	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	159	cd04140	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	156	cd04138	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	146	smart00176	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	202	cd01873	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	157	cd04141	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	158	cd01867	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	157	cd04145	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	187	cd04144	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	159	cd04147	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	220	pfam00071	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	224	cd04146	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	188	cd04134	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	169	cd04127	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	242	cd00876	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	186	cd01893	15718763,NP_203524
3845	131875	Disease	p.Phe156Leu	190070.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	298	cd00878	15718763,NP_203524
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd00154	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04119	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	4	cd04115	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04107	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04135	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04142	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04132	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04143	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04125	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04109	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04124	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04103	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd01861	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04113	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04117	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04130	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04106	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	7	cd04116	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	5	cd01864	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd01863	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	4	cd04122	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	4	cd01869	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	smart00175	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	smart00173	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04139	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd00157	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04112	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	4	cd04111	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04108	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04126	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04120	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04118	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd01862	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04123	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	5	cd01868	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04101	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04148	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	8	cd04110	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd00877	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	6	cd01866	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	9	cd04114	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	5	cd01875	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	5	smart00010	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	28	COG1100	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd01871	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd01874	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd01865	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd04175	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd04140	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd04131	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd01870	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd04176	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd01860	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd04138	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd04136	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd04177	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd04129	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd04137	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd04133	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	4	cd01873	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	4	cd04141	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	5	cd01867	NULL
3845	15718761	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	4	cd04145	NULL
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04142	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04132	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04109	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04143	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04125	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd00154	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04108	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	4	cd04115	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04119	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04135	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04148	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	8	cd04110	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04124	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd01863	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04106	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04103	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04130	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04113	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	7	cd04116	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04117	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd01861	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	5	cd01864	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	smart00173	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	4	cd04122	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	smart00175	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	4	cd01869	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04139	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	4	cd04111	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04107	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd00157	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04118	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04120	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04112	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd01862	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04123	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd04101	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	5	cd01868	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	2	cd00877	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	6	cd01866	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	9	cd04114	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	5	cd01875	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	28	COG1100	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	5	smart00010	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd04177	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd04137	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd04175	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd04131	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd04129	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd04133	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd01874	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd01865	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd01871	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd01870	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd04176	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd04136	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd01860	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd04140	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	3	cd04138	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	4	cd01873	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	4	cd04141	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	5	cd01867	15718763,NP_203524
3845	131875	Disease	p.Lys5Glu	190070.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	4	cd04145	15718763,NP_203524
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	86	smart00174	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	124	cd00880	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	306	cd00882	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	193	cd00154	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	88	cd04119	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd04115	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	116	cd04107	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd04135	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04142	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd04132	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd04143	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	83	cd04125	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd04109	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd04124	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04103	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	61	cd01861	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	62	cd04113	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04117	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd04130	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd04106	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	63	cd04116	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	108	cd01864	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	68	cd01863	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd04122	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	61	cd01869	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	79	smart00175	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	smart00173	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	80	cd04139	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	129	cd00157	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	145	cd04112	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	65	cd04111	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04108	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	53	cd04126	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04120	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd04118	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd01862	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	68	cd04123	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	65	cd01868	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	62	cd04101	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	84	cd04148	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	64	cd04110	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	64	cd00877	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	62	cd01866	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	65	cd04114	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd01875	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	101	smart00010	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	172	COG1100	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd01871	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd01874	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd01865	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04175	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd04140	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04131	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd01870	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04176	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	103	cd01860	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04138	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04136	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04177	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04129	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	64	cd04137	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd04133	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	53	smart00176	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	76	cd01873	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd04141	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	61	cd01867	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd04145	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	81	pfam08477	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd01893	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd00876	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	72	pfam00071	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	102	cd04146	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	121	cd00878	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd04147	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04134	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04144	NULL
3845	15718761	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	72	cd04127	NULL
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	86	smart00174	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	306	cd00882	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	124	cd00880	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04142	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd04132	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd04109	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd04143	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	83	cd04125	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	193	cd00154	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04108	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd04115	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	88	cd04119	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd04135	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	84	cd04148	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	64	cd04110	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd04124	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	68	cd01863	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd04106	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04103	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd04130	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	62	cd04113	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	63	cd04116	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04117	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	61	cd01861	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	108	cd01864	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	smart00173	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd04122	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	79	smart00175	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	61	cd01869	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	80	cd04139	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	65	cd04111	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	116	cd04107	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	129	cd00157	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd04118	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04120	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	145	cd04112	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd01862	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	68	cd04123	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	62	cd04101	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	65	cd01868	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	64	cd00877	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	62	cd01866	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	65	cd04114	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd01875	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	172	COG1100	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	101	smart00010	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04177	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	64	cd04137	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04175	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04131	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04129	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd04133	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd01874	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd01865	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd01871	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd01870	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04176	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04136	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	103	cd01860	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd04140	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04138	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	53	smart00176	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	76	cd01873	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd04141	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	61	cd01867	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	59	cd04145	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	56	cd04144	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	57	cd04147	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	72	pfam00071	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	102	cd04146	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	58	cd04134	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	72	cd04127	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd00876	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	60	cd01893	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	81	pfam08477	15718763,NP_203524
3845	131875	Disease	p.Gly60Ser	190070.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190070	NOONAN SYNDROME 3	OMIM	121	cd00878	15718763,NP_203524
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	7	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	5	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	5	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	11	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	15	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	11	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	11	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	11	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	12	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	14	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	12	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	12	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	13	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	16	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	14	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	14	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	35	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	4	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	11	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	11	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	12	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	11	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	13	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	7	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	5	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	5	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	11	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	15	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	11	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	11	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	11	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	12	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	14	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	12	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	12	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	13	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	16	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	14	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	14	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	35	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	4	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	11	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	11	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	12	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	11	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	13	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	7	smart00174	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	5	cd00880	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	5	cd00882	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	15	cd04110	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04143	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04142	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	12	cd01868	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04106	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04123	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd00877	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04125	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	smart00173	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd01862	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04130	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04117	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04148	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd00154	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04124	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04118	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	smart00175	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04119	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04132	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04112	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04108	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd01863	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	14	cd04116	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	12	cd01864	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	11	cd04111	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd01861	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04107	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04113	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04109	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	11	cd01869	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	11	cd04122	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04139	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd00157	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	11	cd04115	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04101	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04135	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04103	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	14	smart00010	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	12	cd01875	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	13	cd01866	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	35	COG1100	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	16	cd04114	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04177	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd01860	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04175	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04133	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04140	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04129	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd01871	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd01865	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04131	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd01874	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04136	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd01870	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04176	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04138	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	10	cd04137	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	12	cd01867	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	11	cd04145	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	11	cd04141	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	cd04144	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	cd04147	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	cd00878	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	13	cd04127	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd04134	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	pfam08477	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	pfam00071	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	cd04146	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	8	cd00876	NULL
3265	34222246	Disease	p.Gly12Ser	190020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME||MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	9	cd01893	NULL
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	7	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	5	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	5	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	16	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	35	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	4	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	7	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	5	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	5	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	16	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	35	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	4	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	7	smart00174	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	5	cd00880	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	5	cd00882	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	cd04110	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04143	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04142	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01868	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04106	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04123	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00877	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04125	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	smart00173	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01862	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04130	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04117	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04148	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00154	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04124	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04118	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	smart00175	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04119	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04132	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04112	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04108	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01863	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd04116	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01864	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04111	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01861	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04107	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04113	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04109	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01869	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04122	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04139	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00157	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04115	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04101	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04135	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04103	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	smart00010	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01875	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01866	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	35	COG1100	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	16	cd04114	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04177	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01860	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04175	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04133	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04140	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04129	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01871	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01865	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04131	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01874	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04136	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01870	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04176	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04138	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04137	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01867	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04145	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04141	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd04144	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd04147	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd00878	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd04127	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04134	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	pfam08477	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	pfam00071	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd04146	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd00876	NULL
3265	34222246	Disease	p.Gly12Ala	190020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01893	NULL
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	6	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	6	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	16	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	17	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	36	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	5	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	6	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	6	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	16	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	17	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	36	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	5	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	smart00174	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	6	cd00880	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	6	cd00882	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	16	cd04110	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04143	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04142	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01868	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04106	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04123	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd00877	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04125	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	smart00173	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01862	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04130	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04117	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04148	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd00154	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04124	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04118	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	smart00175	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04119	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04132	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04112	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04108	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01863	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	cd04116	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01864	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04111	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01861	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04107	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04113	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04109	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01869	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04122	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04139	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd00157	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04115	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04101	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04135	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04103	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	smart00010	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01875	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd01866	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	36	COG1100	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	17	cd04114	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04177	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01860	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04175	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04133	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04140	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04129	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01871	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01865	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04131	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01874	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04136	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01870	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04176	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04138	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04137	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01867	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04145	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04141	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04144	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04147	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00878	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd04127	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04134	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	pfam08477	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	pfam00071	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04146	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00876	NULL
3265	34222246	Disease	p.Gly13Asp	190020.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01893	NULL
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	142	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	309	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	516	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	116	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	126	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	129	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	129	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	120	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	207	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	119	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	203	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	118	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	116	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	156	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	141	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	230	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	203	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	125	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	314	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	151	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	192	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	131	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	139	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	118	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	111	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	164	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	123	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	118	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	124	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	125	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	119	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	119	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	131	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	116	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	119	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	121	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	118	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	275	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	300	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	121	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	116	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	118	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	162	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	120	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	120	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	108	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	137	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	116	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	117	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	116	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	147	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	139	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	178	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	129	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	167	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	139	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	147	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	187	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	142	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	309	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	516	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	116	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	126	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	129	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	129	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	120	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	207	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	119	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	203	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	118	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	116	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	156	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	141	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	230	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	203	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	125	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	314	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	151	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	192	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	131	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	139	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	118	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	111	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	164	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	123	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	118	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	124	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	125	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	119	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	119	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	131	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	116	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	119	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	121	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	118	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	275	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	300	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	121	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	116	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	118	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	162	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	120	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	120	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	108	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	137	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	116	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	117	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	116	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	147	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	139	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	178	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	129	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	167	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	139	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	147	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	187	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	142	smart00174	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	309	cd00880	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	516	cd00882	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	119	cd04110	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	129	cd04143	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	126	cd04142	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	124	cd01868	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd04106	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	125	cd04123	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	131	cd00877	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	151	cd04125	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	smart00173	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	119	cd01862	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	139	cd04130	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04117	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	203	cd04148	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	314	cd00154	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04124	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04118	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	156	smart00175	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	207	cd04119	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	116	cd04132	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	203	cd04112	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd04108	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	131	cd01863	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	123	cd04116	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	164	cd01864	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	125	cd04111	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	118	cd01861	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	192	cd04107	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	118	cd04113	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	129	cd04109	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	118	cd01869	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	116	cd04122	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	141	cd04139	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	230	cd00157	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	120	cd04115	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	119	cd04101	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04135	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	111	cd04103	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	275	smart00010	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	116	cd01875	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	119	cd01866	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	300	COG1100	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	121	cd04114	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd04177	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	162	cd01860	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd04175	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	116	cd04133	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	118	cd04140	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd04129	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd01871	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd01865	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04131	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd01874	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	120	cd04136	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd01870	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	120	cd04176	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	115	cd04138	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	121	cd04137	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	117	cd01867	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	116	cd04145	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	116	cd04141	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	147	cd04144	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04147	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	187	cd00878	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	129	cd04127	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04134	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	147	pfam08477	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	139	pfam00071	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	178	cd04146	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	167	cd00876	NULL
3265	34222246	Disease	p.Lys117Arg	190020.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	139	cd01893	NULL
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	6	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	6	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	16	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	17	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	36	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	5	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	6	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	6	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	16	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	17	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	36	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	5	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	smart00174	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	6	cd00880	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	6	cd00882	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	16	cd04110	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04143	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04142	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01868	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04106	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04123	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd00877	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04125	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	smart00173	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01862	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04130	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04117	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04148	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd00154	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04124	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04118	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	smart00175	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04119	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04132	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04112	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04108	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01863	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	cd04116	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01864	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04111	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01861	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04107	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04113	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04109	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01869	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04122	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04139	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd00157	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04115	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04101	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04135	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04103	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	smart00010	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01875	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd01866	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	36	COG1100	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	17	cd04114	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04177	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01860	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04175	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04133	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04140	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04129	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01871	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01865	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04131	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01874	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04136	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01870	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04176	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04138	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04137	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01867	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04145	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd04141	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04144	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04147	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00878	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd04127	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04134	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	pfam08477	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	pfam00071	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04146	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00876	NULL
3265	34222246	Disease	p.Gly13Cys	190020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01893	NULL
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	221	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	375	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	636	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	216	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	160	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	162	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	165	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	246	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	150	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	233	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	141	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	148	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	213	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	179	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	172	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	302	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	148	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	234	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	159	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	147	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	398	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	188	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	251	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	171	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	183	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	144	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	196	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	155	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	206	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	161	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	156	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	172	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	161	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	159	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	152	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	161	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	333	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	373	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	163	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	158	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	240	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	153	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	152	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	158	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	136	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	192	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	148	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	177	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	210	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	209	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	159	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	178	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	222	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	176	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	282	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	221	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	375	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	636	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	216	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	160	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	162	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	165	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	246	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	150	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	233	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	141	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	148	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	213	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	179	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	172	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	302	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	148	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	234	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	159	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	147	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	398	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	188	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	251	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	171	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	183	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	144	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	196	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	155	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	206	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	161	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	156	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	172	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	161	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	159	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	152	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	161	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	333	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	373	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	163	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	158	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	240	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	153	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	152	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	158	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	136	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	192	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	148	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	177	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	210	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	209	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	159	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	178	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	222	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	176	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	282	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	221	smart00174	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	375	cd00880	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	636	cd00882	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	150	cd04110	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	162	cd04143	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04142	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	161	cd01868	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd04106	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	156	cd04123	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	161	cd00877	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	188	cd04125	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	179	smart00173	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	172	cd01862	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	183	cd04130	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd04117	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	233	cd04148	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	398	cd00154	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	141	cd04124	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	148	cd04118	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	213	smart00175	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	246	cd04119	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	216	cd04132	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	234	cd04112	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	147	cd04108	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	171	cd01863	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	155	cd04116	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	196	cd01864	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	159	cd04111	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd01861	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	251	cd04107	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	206	cd04113	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	160	cd04109	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	148	cd01869	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04122	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	172	cd04139	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	302	cd00157	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	165	cd04115	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd04101	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04135	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	144	cd04103	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	333	smart00010	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	159	cd01875	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd01866	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	373	COG1100	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	152	cd04114	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04177	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	240	cd01860	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04175	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04133	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd04140	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	158	cd04129	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd01871	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd01865	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04131	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd01874	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	153	cd04136	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	158	cd01870	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	152	cd04176	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04138	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	163	cd04137	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	148	cd01867	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04145	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04141	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	177	cd04144	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd04147	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	282	cd00878	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	159	cd04127	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	178	cd04134	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	210	pfam00071	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	209	cd04146	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	222	cd00876	NULL
3265	34222246	Disease	p.Ala146Thr	190020.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	176	cd01893	NULL
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	89	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	127	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	309	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	93	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	67	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	87	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	64	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	82	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	83	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	132	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	148	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	68	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	210	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	87	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	60	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	123	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	71	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	86	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	64	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	60	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	111	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	66	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	65	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	68	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	71	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	65	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	67	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	65	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	68	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	65	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	104	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	175	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	67	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	106	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	56	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	79	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	64	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	60	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	59	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	75	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	113	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	75	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	89	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	124	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	89	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	127	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	309	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	93	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	67	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	87	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	64	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	82	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	83	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	132	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	148	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	68	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	210	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	87	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	60	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	123	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	71	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	86	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	64	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	60	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	111	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	66	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	65	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	68	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	71	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	65	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	67	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	65	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	68	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	65	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	104	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	175	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	67	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	106	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	56	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	79	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	64	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	60	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	59	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	75	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	113	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	75	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	89	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	124	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	89	smart00174	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	127	cd00880	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	309	cd00882	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	67	cd04110	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd04143	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04142	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	68	cd01868	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd04106	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	71	cd04123	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	67	cd00877	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	87	cd04125	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	smart00173	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd01862	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	86	cd04130	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04117	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	87	cd04148	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	210	cd00154	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd04124	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd04118	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	82	smart00175	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	93	cd04119	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd04132	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	148	cd04112	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04108	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	71	cd01863	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	66	cd04116	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	111	cd01864	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	68	cd04111	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	64	cd01861	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	123	cd04107	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	65	cd04113	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd04109	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	64	cd01869	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd04122	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	83	cd04139	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	132	cd00157	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd04115	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	65	cd04101	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	60	cd04135	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	60	cd04103	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	104	smart00010	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd01875	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	65	cd01866	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	175	COG1100	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	68	cd04114	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04177	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	106	cd01860	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04175	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd04133	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd04140	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04129	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd01871	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd01865	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04131	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd01874	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04136	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd01870	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04176	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04138	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	67	cd04137	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	64	cd01867	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd04145	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	62	cd04141	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	59	cd04144	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	60	cd04147	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	124	cd00878	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	75	cd04127	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	61	cd04134	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	89	pfam08477	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	75	pfam00071	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	113	cd04146	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd00876	NULL
3265	34222246	Disease	p.Glu63Lys	190020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	63	cd01893	NULL
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	17	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	15	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	15	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	21	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	25	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	21	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	21	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	21	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	22	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	24	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	22	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	22	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	23	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	26	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	24	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	24	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	45	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	14	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	33	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	21	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	22	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	21	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	23	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	17	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	15	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	15	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	21	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	25	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	21	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	21	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	21	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	22	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	24	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	22	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	22	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	23	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	26	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	24	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	24	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	45	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	14	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	33	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	21	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	22	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	21	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	23	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	17	smart00174	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	15	cd00880	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	15	cd00882	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	25	cd04110	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04143	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04142	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	22	cd01868	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04106	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04123	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd00877	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04125	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	smart00173	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd01862	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04130	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04117	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04148	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd00154	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04124	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04118	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	smart00175	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04119	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04132	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04112	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04108	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd01863	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	24	cd04116	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	22	cd01864	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	21	cd04111	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd01861	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04107	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04113	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04109	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	21	cd01869	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	21	cd04122	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04139	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd00157	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	21	cd04115	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	cd04101	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04135	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04103	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	24	smart00010	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	22	cd01875	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	23	cd01866	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	45	COG1100	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	26	cd04114	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04177	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd01860	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04175	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04133	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04140	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04129	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd01871	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd01865	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04131	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd01874	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04136	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd01870	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04176	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04138	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	20	cd04137	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	22	cd01867	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	21	cd04145	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	21	cd04141	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	cd04144	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	cd04147	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	cd00878	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	23	cd04127	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd04134	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	pfam08477	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	pfam00071	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	cd04146	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	18	cd00876	NULL
3265	34222246	Disease	p.Gln22Lys	190020.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	OMIM	19	cd01893	NULL
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	84	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	122	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	304	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	86	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	62	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	82	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	59	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	77	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	78	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	127	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	143	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	63	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	191	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	81	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	55	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	66	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	55	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	59	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	54	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	106	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	61	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	60	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	63	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	66	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	60	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	62	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	60	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	63	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	60	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	99	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	170	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	62	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	101	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	51	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	74	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	59	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	55	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	54	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	70	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	100	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	70	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	79	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	119	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	84	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	122	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	304	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	86	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	62	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	82	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	59	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	77	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	78	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	127	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	143	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	63	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	191	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	81	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	55	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	66	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	55	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	59	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	54	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	106	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	61	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	60	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	63	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	66	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	60	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	62	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	60	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	63	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	60	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	99	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	170	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	62	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	101	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	51	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	74	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	59	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	55	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	54	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	70	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	100	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	70	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	79	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	119	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	84	smart00174	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	122	cd00880	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	304	cd00882	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	62	cd04110	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd04143	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04142	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	63	cd01868	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd04106	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	66	cd04123	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	62	cd00877	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	81	cd04125	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	smart00173	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd01862	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	55	cd04130	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04117	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	82	cd04148	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	191	cd00154	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd04124	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd04118	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	77	smart00175	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	86	cd04119	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd04132	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	143	cd04112	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04108	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	66	cd01863	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	61	cd04116	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	106	cd01864	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	63	cd04111	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	59	cd01861	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	114	cd04107	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	60	cd04113	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd04109	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	59	cd01869	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd04122	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	78	cd04139	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	127	cd00157	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd04115	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	60	cd04101	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	55	cd04135	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	54	cd04103	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	99	smart00010	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd01875	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	60	cd01866	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	170	COG1100	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	63	cd04114	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04177	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	101	cd01860	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04175	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd04133	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd04140	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04129	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd01871	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd01865	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04131	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd01874	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04136	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd01870	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04176	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04138	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	62	cd04137	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	59	cd01867	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd04145	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	57	cd04141	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	54	cd04144	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	55	cd04147	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	119	cd00878	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	70	cd04127	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	56	cd04134	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	79	pfam08477	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	70	pfam00071	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	100	cd04146	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd00876	NULL
3265	34222246	Disease	p.Thr58Ile	190020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	58	cd01893	NULL
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	221	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	375	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	636	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	216	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	160	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	162	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	165	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	246	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	150	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	233	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	141	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	148	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	213	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	179	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	172	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	302	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	148	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	234	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	159	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	147	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	398	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	188	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	251	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	171	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	183	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	144	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	196	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	155	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	206	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	161	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	156	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	172	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	161	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	159	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	152	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	161	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	333	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	373	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	163	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	158	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	240	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	153	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	152	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	158	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	136	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	192	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	148	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	177	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	210	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	209	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	159	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	178	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	222	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	176	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	282	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	221	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	375	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	636	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	216	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	160	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	162	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	165	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	246	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	150	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	233	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	141	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	148	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	213	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	179	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	172	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	302	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	148	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	234	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	159	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	147	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	398	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	188	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	251	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	171	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	183	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	144	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	196	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	155	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	206	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	161	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	156	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	172	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	161	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	159	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	152	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	161	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	333	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	373	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	163	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	158	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	240	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	153	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	152	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	158	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	136	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	192	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	148	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	177	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	210	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	209	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	159	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	178	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	222	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	176	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	282	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	221	smart00174	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	375	cd00880	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	636	cd00882	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	150	cd04110	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	162	cd04143	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04142	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	161	cd01868	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd04106	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	156	cd04123	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	161	cd00877	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	188	cd04125	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	179	smart00173	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	172	cd01862	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	183	cd04130	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd04117	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	233	cd04148	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	398	cd00154	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	141	cd04124	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	148	cd04118	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	213	smart00175	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	246	cd04119	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	216	cd04132	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	234	cd04112	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	147	cd04108	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	171	cd01863	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	155	cd04116	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	196	cd01864	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	159	cd04111	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd01861	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	251	cd04107	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	206	cd04113	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	160	cd04109	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	148	cd01869	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04122	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	172	cd04139	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	302	cd00157	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	165	cd04115	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd04101	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04135	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	144	cd04103	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	333	smart00010	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	159	cd01875	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd01866	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	373	COG1100	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	152	cd04114	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04177	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	240	cd01860	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04175	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04133	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd04140	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	158	cd04129	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd01871	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	145	cd01865	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd04131	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	157	cd01874	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	153	cd04136	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	158	cd01870	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	152	cd04176	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04138	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	163	cd04137	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	148	cd01867	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04145	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	146	cd04141	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	177	cd04144	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	149	cd04147	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	282	cd00878	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	159	cd04127	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	178	cd04134	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	210	pfam00071	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	209	cd04146	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	222	cd00876	NULL
3265	34222246	Disease	p.Ala146Val	190020.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	176	cd01893	NULL
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	7	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	5	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	5	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	11	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	15	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	11	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	11	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	11	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	12	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	14	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	12	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	12	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	13	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	16	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	14	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	14	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	35	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	4	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	11	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	11	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	12	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	11	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	13	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	7	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	5	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	5	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	11	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	15	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	11	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	11	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	11	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	12	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	14	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	12	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	12	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	13	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	16	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	14	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	14	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	35	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	4	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	11	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	11	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	12	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	11	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	13	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	7	smart00174	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	5	cd00880	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	5	cd00882	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	15	cd04110	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04143	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04142	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	12	cd01868	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04106	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04123	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd00877	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04125	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	smart00173	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd01862	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04130	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04117	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04148	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd00154	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04124	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04118	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	smart00175	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04119	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04132	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04112	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04108	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd01863	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	14	cd04116	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	12	cd01864	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	11	cd04111	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd01861	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04107	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04113	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04109	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	11	cd01869	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	11	cd04122	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04139	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd00157	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	11	cd04115	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04101	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04135	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04103	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	14	smart00010	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	12	cd01875	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	13	cd01866	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	35	COG1100	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	16	cd04114	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04177	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd01860	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04175	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04133	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04140	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04129	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd01871	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd01865	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04131	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd01874	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04136	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd01870	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04176	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04138	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	10	cd04137	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	12	cd01867	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	11	cd04145	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	11	cd04141	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	cd04144	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	cd04147	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	cd00878	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	13	cd04127	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd04134	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	pfam08477	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	pfam00071	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	cd04146	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	8	cd00876	NULL
3265	34222246	Disease	p.Gly12Asp	190020.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME, SEVERE	OMIM	9	cd01893	NULL
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	7	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	5	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	5	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	16	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	35	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	4	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	7	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	5	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	5	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	16	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	35	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	4	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	7	smart00174	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	5	cd00880	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	5	cd00882	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	15	cd04110	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04143	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04142	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01868	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04106	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04123	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00877	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04125	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	smart00173	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01862	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04130	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04117	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04148	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00154	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04124	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04118	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	smart00175	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04119	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04132	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04112	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04108	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01863	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	cd04116	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01864	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04111	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01861	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04107	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04113	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04109	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd01869	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04122	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04139	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd00157	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04115	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04101	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04135	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04103	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	14	smart00010	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01875	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd01866	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	35	COG1100	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	16	cd04114	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04177	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01860	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04175	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04133	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04140	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04129	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01871	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01865	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04131	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01874	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04136	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd01870	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04176	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04138	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	10	cd04137	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	12	cd01867	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04145	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	11	cd04141	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd04144	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd04147	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd00878	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	13	cd04127	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd04134	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	pfam08477	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	pfam00071	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd04146	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	8	cd00876	NULL
3265	34222246	Disease	p.Gly12Cys	190020.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190020	COSTELLO SYNDROME	OMIM	9	cd01893	NULL
2152	296010912	Disease	p.Gly277Asp	190000.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190000	TRANSFERRIN VARIANT D1	OMIM	No Domain	N/A	NULL
2152	135666	Disease	p.Gly277Asp	190000.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190000	TRANSFERRIN VARIANT D1	OMIM	No Domain	N/A	4503641,NP_001984
2152	296010912	Disease	p.His300Arg	190000.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190000	TRANSFERRIN VARIANT CHI	OMIM	No Domain	N/A	NULL
2152	135666	Disease	p.His300Arg	190000.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190000	TRANSFERRIN VARIANT CHI	OMIM	No Domain	N/A	4503641,NP_001984
2152	296010912	Disease	p.Gly652Glu	190000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190000	TRANSFERRIN VARIANT B2	OMIM	No Domain	N/A	NULL
2152	135666	Disease	p.Gly652Glu	190000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190000	TRANSFERRIN VARIANT B2	OMIM	No Domain	N/A	4503641,NP_001984
2152	296010912	Disease	p.Pro570Ser	190000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190000	TRANSFERRIN VARIANT C1/C2||ALZHEIMER DISEASE, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
2152	135666	Disease	p.Pro570Ser	190000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190000	TRANSFERRIN VARIANT C1/C2||ALZHEIMER DISEASE, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	4503641,NP_001984
2152	296010912	Disease	p.Lys627Glu	190000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190000	TRANSFERRIN VARIANT Bv	OMIM	No Domain	N/A	NULL
2152	135666	Disease	p.Lys627Glu	190000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190000	TRANSFERRIN VARIANT Bv	OMIM	No Domain	N/A	4503641,NP_001984
2152	296010912	Disease	p.Ala477Pro	190000.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190000	ATRANSFERRINEMIA	OMIM	No Domain	N/A	NULL
2152	135666	Disease	p.Ala477Pro	190000.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190000	ATRANSFERRINEMIA	OMIM	No Domain	N/A	4503641,NP_001984
2152	296010912	Disease	p.Gly277Ser	190000.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190000	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	NULL
2152	135666	Disease	p.Gly277Ser	190000.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190000	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	4503641,NP_001984
2152	296010912	Disease	p.Glu375Lys	190000.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190000	ATRANSFERRINEMIA	OMIM	No Domain	N/A	NULL
2152	135666	Disease	p.Glu375Lys	190000.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190000	ATRANSFERRINEMIA	OMIM	No Domain	N/A	4503641,NP_001984
2152	296010912	Disease	p.Asp77Asn	190000.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190000	ATRANSFERRINEMIA	OMIM	71	pfam01108	NULL
2152	135666	Disease	p.Asp77Asn	190000.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190000	ATRANSFERRINEMIA	OMIM	71	pfam01108	4503641,NP_001984
7003	3041733	Disease	p.Tyr421His	189967.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189967	SVEINSSON CHOREORETINAL ATROPHY	OMIM	No Domain	N/A	296434319,NP_068780
6935	291575190	Disease	p.Asn78Thr	189909.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189909	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6	OMIM	No Domain	N/A	NULL
6935	291575185	Disease	p.Asn78Thr	189909.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189909	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6	OMIM	No Domain	N/A	NULL
6935	291575188	Disease	p.Asn78Thr	189909.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189909	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6	OMIM	No Domain	N/A	NULL
6935	6166575	Disease	p.Asn78Thr	189909.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189909	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6	OMIM	No Domain	N/A	189409128,NP_110378
6935	189409130	Disease	p.Asn78Thr	189909.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189909	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6	OMIM	No Domain	N/A	NULL
6935	291575192	Disease	p.Asn78Thr	189909.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189909	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6	OMIM	No Domain	N/A	NULL
6935	291575190	Disease	p.Gln840Pro	189909.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189909	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6	OMIM	4	smart00355	NULL
6935	291575185	Disease	p.Gln840Pro	189909.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189909	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6	OMIM	No Domain	N/A	NULL
6935	291575188	Disease	p.Gln840Pro	189909.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189909	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6	OMIM	No Domain	N/A	NULL
6935	6166575	Disease	p.Gln840Pro	189909.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189909	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6	OMIM	No Domain	N/A	189409128,NP_110378
6935	189409130	Disease	p.Gln840Pro	189909.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189909	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6	OMIM	No Domain	N/A	NULL
6935	291575192	Disease	p.Gln840Pro	189909.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189909	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6	OMIM	No Domain	N/A	NULL
6928	260064065	Disease	p.Ser465Arg	189907.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189907	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	253	pfam04812	NULL
6928	547664	Disease	p.Ser465Arg	189907.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189907	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	220	pfam04812	4507397,NP_000449
6928	260064065	Disease	p.Ser148Trp	189907.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189907	RENAL CYSTS AND DIABETES SYNDROME	OMIM	215	pfam04814	NULL
6928	547664	Disease	p.Ser148Trp	189907.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189907	RENAL CYSTS AND DIABETES SYNDROME	OMIM	215	pfam04814	4507397,NP_000449
79742	193804856	Disease	p.Ser148Trp	189907.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189907	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Ser148Trp	189907.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189907	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
6928	260064065	Disease	p.Arg165His	189907.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189907	RENAL CYSTS AND DIABETES SYNDROME	OMIM	232	pfam04814	NULL
6928	547664	Disease	p.Arg165His	189907.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=189907	RENAL CYSTS AND DIABETES SYNDROME	OMIM	232	pfam04814	4507397,NP_000449
7273	110349721	Disease	p.Arg740Leu	188840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9	OMIM	No Domain	N/A	NULL
7273	291045228	Disease	p.Arg740Leu	188840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9	OMIM	No Domain	N/A	NULL
7273	291045225	Disease	p.Arg740Leu	188840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9	OMIM	No Domain	N/A	NULL
7273	291045230	Disease	p.Arg740Leu	188840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9	OMIM	No Domain	N/A	NULL
7273	291045223	Disease	p.Arg740Leu	188840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9	OMIM	No Domain	N/A	NULL
7273	110349721	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	No Domain	N/A	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	35	cd05891	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	36	pfam07679	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	35	cd05737	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05746	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05725	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05893	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05892	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05744	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	18	cd05750	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05736	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	31	cd00096	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05760	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05763	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05876	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	28	cd05856	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	29	cd05894	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	25	pfam00047	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	20	cd04969	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	20	cd05765	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	20	cd05764	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	31	cd05724	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	18	cd05723	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	18	cd05748	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	37	cd05747	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	36	cd05869	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	35	cd05870	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	36	cd05732	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	36	pfam07686	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	22	smart00408	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	21	cd05745	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	37	cd05730	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	35	cd04968	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	35	cd05851	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	28	cd05729	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	48	smart00409	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	48	smart00410	NULL
7273	291045228	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	33	cd05728	NULL
7273	291045225	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	No Domain	N/A	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	35	cd05891	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	36	pfam07679	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	35	cd05737	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05746	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05725	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05893	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05892	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05744	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	18	cd05750	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05736	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	31	cd00096	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05763	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05876	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05760	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	28	cd05856	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	29	cd05894	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	25	pfam00047	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	20	cd04969	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	20	cd05765	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	20	cd05764	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	31	cd05724	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	18	cd05723	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	18	cd05748	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	37	cd05747	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	36	cd05869	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	35	cd05870	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	36	cd05732	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	36	pfam07686	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	22	smart00408	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	21	cd05745	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	37	cd05730	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	35	cd04968	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	35	cd05851	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	28	cd05729	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	48	smart00409	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	48	smart00410	NULL
7273	291045230	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	33	cd05728	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	35	cd05891	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	36	pfam07679	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	35	cd05737	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05746	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05725	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05892	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05893	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05744	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	18	cd05750	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05736	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	31	cd00096	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05760	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05763	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	17	cd05876	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	28	cd05856	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	29	cd05894	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	25	pfam00047	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	20	cd04969	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	20	cd05765	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	20	cd05764	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	31	cd05724	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	18	cd05723	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	18	cd05748	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	37	cd05747	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	36	cd05869	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	35	cd05870	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	36	cd05732	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	36	pfam07686	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	22	smart00408	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	21	cd05745	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	37	cd05730	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	35	cd04968	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	35	cd05851	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	28	cd05729	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	48	smart00409	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	48	smart00410	NULL
7273	291045223	Disease	p.Trp930Arg	188840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	33	cd05728	NULL
7273	110349721	Disease	p.Leu34315Pro	188840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	TIBIAL MUSCULAR DYSTROPHY, TARDIVE	OMIM	No Domain	N/A	NULL
7273	291045228	Disease	p.Leu34315Pro	188840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	TIBIAL MUSCULAR DYSTROPHY, TARDIVE	OMIM	No Domain	N/A	NULL
7273	291045225	Disease	p.Leu34315Pro	188840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	TIBIAL MUSCULAR DYSTROPHY, TARDIVE	OMIM	No Domain	N/A	NULL
7273	291045230	Disease	p.Leu34315Pro	188840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	TIBIAL MUSCULAR DYSTROPHY, TARDIVE	OMIM	No Domain	N/A	NULL
7273	291045223	Disease	p.Leu34315Pro	188840.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	TIBIAL MUSCULAR DYSTROPHY, TARDIVE	OMIM	No Domain	N/A	NULL
7273	110349721	Disease	p.Ala743Val	188840.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	No Domain	N/A	NULL
7273	291045228	Disease	p.Ala743Val	188840.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	No Domain	N/A	NULL
7273	291045225	Disease	p.Ala743Val	188840.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	No Domain	N/A	NULL
7273	291045230	Disease	p.Ala743Val	188840.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	No Domain	N/A	NULL
7273	291045223	Disease	p.Ala743Val	188840.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	No Domain	N/A	NULL
7273	110349721	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	45	cd04969	NULL
7273	110349721	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	48	cd05737	NULL
7273	110349721	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	50	cd05747	NULL
7273	110349721	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	29	cd05760	NULL
7273	110349721	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	29	cd05744	NULL
7273	110349721	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	32	cd05892	NULL
7273	110349721	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	83	cd00096	NULL
7273	110349721	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	122	smart00409	NULL
7273	110349721	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	122	smart00410	NULL
7273	110349721	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	80	smart00408	NULL
7273	110349721	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	60	cd05748	NULL
7273	110349721	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	63	pfam07679	NULL
7273	110349721	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	52	cd05730	NULL
7273	110349721	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	52	cd05724	NULL
7273	291045228	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	48	cd05737	NULL
7273	291045228	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	29	cd05760	NULL
7273	291045228	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	29	cd05744	NULL
7273	291045228	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	32	cd05892	NULL
7273	291045228	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	83	cd00096	NULL
7273	291045228	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	122	smart00409	NULL
7273	291045228	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	122	smart00410	NULL
7273	291045228	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	60	cd05748	NULL
7273	291045228	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	45	cd04969	NULL
7273	291045228	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	52	cd05724	NULL
7273	291045228	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	63	pfam07679	NULL
7273	291045228	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	52	cd05730	NULL
7273	291045228	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	50	cd05747	NULL
7273	291045228	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	80	smart00408	NULL
7273	291045225	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	122	smart00409	NULL
7273	291045225	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	122	smart00410	NULL
7273	291045225	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	60	cd05748	NULL
7273	291045225	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	45	cd04969	NULL
7273	291045225	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	50	cd05747	NULL
7273	291045225	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	80	smart00408	NULL
7273	291045225	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	48	cd05737	NULL
7273	291045225	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	29	cd05760	NULL
7273	291045225	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	29	cd05744	NULL
7273	291045225	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	32	cd05892	NULL
7273	291045225	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	83	cd00096	NULL
7273	291045225	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	52	cd05724	NULL
7273	291045225	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	63	pfam07679	NULL
7273	291045225	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	52	cd05730	NULL
7273	291045230	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	48	cd05737	NULL
7273	291045230	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	29	cd05760	NULL
7273	291045230	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	29	cd05744	NULL
7273	291045230	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	32	cd05892	NULL
7273	291045230	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	83	cd00096	NULL
7273	291045230	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	122	smart00409	NULL
7273	291045230	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	122	smart00410	NULL
7273	291045230	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	60	cd05748	NULL
7273	291045230	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	45	cd04969	NULL
7273	291045230	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	52	cd05724	NULL
7273	291045230	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	63	pfam07679	NULL
7273	291045230	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	52	cd05730	NULL
7273	291045230	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	50	cd05747	NULL
7273	291045230	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	80	smart00408	NULL
7273	291045223	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	48	cd05737	NULL
7273	291045223	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	29	cd05760	NULL
7273	291045223	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	29	cd05744	NULL
7273	291045223	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	32	cd05892	NULL
7273	291045223	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	83	cd00096	NULL
7273	291045223	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	122	smart00409	NULL
7273	291045223	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	122	smart00410	NULL
7273	291045223	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	60	cd05748	NULL
7273	291045223	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	45	cd04969	NULL
7273	291045223	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	52	cd05724	NULL
7273	291045223	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	63	pfam07679	NULL
7273	291045223	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	52	cd05730	NULL
7273	291045223	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	50	cd05747	NULL
7273	291045223	Disease	p.Val54Met	188840.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	80	smart00408	NULL
7273	110349721	Disease	p.Ser4465Asn	188840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	No Domain	N/A	NULL
7273	291045228	Disease	p.Ser4465Asn	188840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	6	cd05859	NULL
7273	291045228	Disease	p.Ser4465Asn	188840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	2	cd05869	NULL
7273	291045228	Disease	p.Ser4465Asn	188840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	7	cd05747	NULL
7273	291045228	Disease	p.Ser4465Asn	188840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	4	pfam07679	NULL
7273	291045225	Disease	p.Ser4465Asn	188840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	87	cd05748	NULL
7273	291045225	Disease	p.Ser4465Asn	188840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	57	cd05723	NULL
7273	291045225	Disease	p.Ser4465Asn	188840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	68	cd05729	NULL
7273	291045225	Disease	p.Ser4465Asn	188840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	200	smart00409	NULL
7273	291045225	Disease	p.Ser4465Asn	188840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	200	smart00410	NULL
7273	291045225	Disease	p.Ser4465Asn	188840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	90	pfam00047	NULL
7273	291045225	Disease	p.Ser4465Asn	188840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	95	pfam07679	NULL
7273	291045225	Disease	p.Ser4465Asn	188840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	64	cd05750	NULL
7273	291045225	Disease	p.Ser4465Asn	188840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	125	cd00096	NULL
7273	291045230	Disease	p.Ser4465Asn	188840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	35	pfam07679	NULL
7273	291045230	Disease	p.Ser4465Asn	188840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	46	smart00409	NULL
7273	291045230	Disease	p.Ser4465Asn	188840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	46	smart00410	NULL
7273	291045223	Disease	p.Ser4465Asn	188840.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	CARDIOMYOPATHY, DILATED, 1G	OMIM	No Domain	N/A	NULL
7273	110349721	Disease	p.Arg279Trp	188840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE	OMIM	No Domain	N/A	NULL
7273	291045228	Disease	p.Arg279Trp	188840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE	OMIM	No Domain	N/A	NULL
7273	291045225	Disease	p.Arg279Trp	188840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE	OMIM	No Domain	N/A	NULL
7273	291045230	Disease	p.Arg279Trp	188840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE	OMIM	No Domain	N/A	NULL
7273	291045223	Disease	p.Arg279Trp	188840.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188840	HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE	OMIM	No Domain	N/A	NULL
5573	125193	Disease	p.Arg74Cys	188830.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188830	CARNEY COMPLEX, TYPE 1	OMIM	No Domain	N/A	47132581,NP_997636|4506063,NP_002725|47132583,NP_997637
5573	125193	Disease	p.Arg74Cys	188830.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188830	CARNEY COMPLEX, TYPE 1	OMIM	No Domain	N/A	47132581,NP_997636|4506063,NP_002725|47132583,NP_997637
5573	125193	Disease	p.Arg74Cys	188830.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188830	CARNEY COMPLEX, TYPE 1	OMIM	No Domain	N/A	47132581,NP_997636|4506063,NP_002725|47132583,NP_997637
7078	730948	Disease	p.Ser181Cys	188826.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188826	SORSBY FUNDUS DYSTROPHY	OMIM	192	cd03585	4507513,NP_000353
7078	730948	Disease	p.Ser181Cys	188826.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188826	SORSBY FUNDUS DYSTROPHY	OMIM	179	smart00206	4507513,NP_000353
7078	730948	Disease	p.Ser181Cys	188826.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188826	SORSBY FUNDUS DYSTROPHY	OMIM	244	pfam00965	4507513,NP_000353
7078	730948	Disease	p.Tyr168Cys	188826.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188826	SORSBY FUNDUS DYSTROPHY	OMIM	178	cd03585	4507513,NP_000353
7078	730948	Disease	p.Tyr168Cys	188826.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188826	SORSBY FUNDUS DYSTROPHY	OMIM	166	smart00206	4507513,NP_000353
7078	730948	Disease	p.Tyr168Cys	188826.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188826	SORSBY FUNDUS DYSTROPHY	OMIM	230	pfam00965	4507513,NP_000353
7078	730948	Disease	p.Ser156Cys	188826.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188826	SORSBY FUNDUS DYSTROPHY	OMIM	166	cd03585	4507513,NP_000353
7078	730948	Disease	p.Ser156Cys	188826.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188826	SORSBY FUNDUS DYSTROPHY	OMIM	154	smart00206	4507513,NP_000353
7078	730948	Disease	p.Ser156Cys	188826.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188826	SORSBY FUNDUS DYSTROPHY	OMIM	218	pfam00965	4507513,NP_000353
7078	730948	Disease	p.Gly166Cys	188826.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188826	SORSBY FUNDUS DYSTROPHY, LAVIA TYPE	OMIM	176	cd03585	4507513,NP_000353
7078	730948	Disease	p.Gly166Cys	188826.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188826	SORSBY FUNDUS DYSTROPHY, LAVIA TYPE	OMIM	164	smart00206	4507513,NP_000353
7078	730948	Disease	p.Gly166Cys	188826.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188826	SORSBY FUNDUS DYSTROPHY, LAVIA TYPE	OMIM	228	pfam00965	4507513,NP_000353
7201	464921	Disease	p.Ala118Thr	188545.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188545	THYROTROPIN-RELEASING HORMONE RESISTANCE, GENERALIZED	OMIM	82	pfam10320	4507681,NP_003292
7201	464921	Disease	p.Ala118Thr	188545.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188545	THYROTROPIN-RELEASING HORMONE RESISTANCE, GENERALIZED	OMIM	87	pfam00001	4507681,NP_003292
7252	311033515	Disease	p.Gly29Arg	188540.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188540	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4	OMIM	8	cd00069	115430099,NP_000540
7252	311033515	Disease	p.Gly29Arg	188540.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188540	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4	OMIM	12	smart00068	115430099,NP_000540
7252	311033515	Disease	p.Gly29Arg	188540.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188540	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4	OMIM	14	pfam00007	115430099,NP_000540
7038	126302607	Disease	p.Gln870His	188450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	55770862,NP_003226
7038	126302607	Disease	p.Cys1245Arg	188450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450	THYROID DYSHORMONOGENESIS 3	OMIM	No Domain	N/A	55770862,NP_003226
7038	126302607	Disease	p.Cys1977Ser	188450.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450	THYROID DYSHORMONOGENESIS 3	OMIM	No Domain	N/A	55770862,NP_003226
7038	126302607	Disease	p.Arg1980Trp	188450.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450	AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3	OMIM	No Domain	N/A	55770862,NP_003226
7038	126302607	Disease	p.Ser734Ala	188450.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450	AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3	OMIM	No Domain	N/A	55770862,NP_003226
7038	126302607	Disease	p.Met1027Val	188450.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450	AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3	OMIM	36	cd00191	55770862,NP_003226
7038	126302607	Disease	p.Met1027Val	188450.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450	AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3	OMIM	32	pfam00086	55770862,NP_003226
7038	126302607	Disease	p.Arg2223His	188450.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450	THYROID DYSHORMONOGENESIS 3	OMIM	53	pfam00135	55770862,NP_003226
7038	126302607	Disease	p.Arg2223His	188450.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450	THYROID DYSHORMONOGENESIS 3	OMIM	16	cd00312	55770862,NP_003226
7038	126302607	Disease	p.Arg2223His	188450.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450	THYROID DYSHORMONOGENESIS 3	OMIM	35	COG2272	55770862,NP_003226
7038	126302607	Disease	p.Cys1058Arg	188450.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450	THYROID DYSHORMONOGENESIS 3	OMIM	56	smart00211	55770862,NP_003226
7038	126302607	Disease	p.Cys1058Arg	188450.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450	THYROID DYSHORMONOGENESIS 3	OMIM	75	cd00191	55770862,NP_003226
7038	126302607	Disease	p.Cys1058Arg	188450.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450	THYROID DYSHORMONOGENESIS 3	OMIM	69	pfam00086	55770862,NP_003226
7038	126302607	Disease	p.Gly2356Arg	188450.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450	THYROID DYSHORMONOGENESIS 3	OMIM	327	pfam00135	55770862,NP_003226
7038	126302607	Disease	p.Gly2356Arg	188450.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450	THYROID DYSHORMONOGENESIS 3	OMIM	211	cd00312	55770862,NP_003226
7038	126302607	Disease	p.Gly2356Arg	188450.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450	THYROID DYSHORMONOGENESIS 3	OMIM	195	COG2272	55770862,NP_003226
7038	126302607	Disease	p.Cys1897Tyr	188450.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450	THYROID DYSHORMONOGENESIS 3	OMIM	No Domain	N/A	55770862,NP_003226
7038	126302607	Disease	p.Arg2336Gln	188450.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450	THYROID DYSHORMONOGENESIS 3	OMIM	283	pfam00135	55770862,NP_003226
7038	126302607	Disease	p.Arg2336Gln	188450.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450	THYROID DYSHORMONOGENESIS 3	OMIM	185	cd00312	55770862,NP_003226
7038	126302607	Disease	p.Arg2336Gln	188450.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188450	THYROID DYSHORMONOGENESIS 3	OMIM	169	COG2272	55770862,NP_003226
7112	1174689	Disease	p.Arg690Cys	188380.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188380	CARDIOMYOPATHY, DILATED, 1T	OMIM	231	pfam11560	4507555,NP_003267
7112	73760401	Disease	p.Arg690Cys	188380.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188380	CARDIOMYOPATHY, DILATED, 1T	OMIM	No Domain	N/A	NULL
7112	1174690	Disease	p.Arg690Cys	188380.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188380	CARDIOMYOPATHY, DILATED, 1T	OMIM	No Domain	N/A	73760405,NP_001027454
7083	23503074	Disease	p.His163Asn	188250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188250	MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM	OMIM	158	pfam00265	164698438,NP_003249
7083	23503074	Disease	p.His163Asn	188250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188250	MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM	OMIM	186	COG1435	164698438,NP_003249
7083	23503074	Disease	p.Ile254Asn	188250.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188250	MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM	OMIM	No Domain	N/A	164698438,NP_003249
7083	23503074	Disease	p.Thr150Met	188250.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188250	MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM	OMIM	144	pfam00265	164698438,NP_003249
7083	23503074	Disease	p.Thr150Met	188250.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188250	MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM	OMIM	168	COG1435	164698438,NP_003249
7083	23503074	Disease	p.Ile95Met	188250.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188250	MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM	OMIM	87	pfam00265	164698438,NP_003249
7083	23503074	Disease	p.Ile95Met	188250.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188250	MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM	OMIM	108	COG1435	164698438,NP_003249
6915	229463010	Disease	p.Arg60Leu	188070.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188070	BLEEDING DISORDER DUE TO DEFECTIVE THROMBOXANE A2 RECEPTOR	OMIM	14	pfam00001	4507381,NP_001051
6915	260593681	Disease	p.Arg60Leu	188070.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188070	BLEEDING DISORDER DUE TO DEFECTIVE THROMBOXANE A2 RECEPTOR	OMIM	14	pfam00001	NULL
7056	136170	Disease	p.Asp468Tyr	188040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188040	THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT	OMIM	57	smart00179	4507483,NP_000352
7056	136170	Disease	p.Asp468Tyr	188040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188040	THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT	OMIM	62	cd00054	4507483,NP_000352
7056	136170	Disease	p.Asp468Tyr	188040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188040	THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT	OMIM	40	pfam07645	4507483,NP_000352
7056	136170	Disease	p.Asp468Tyr	188040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188040	THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT	OMIM	63	smart00181	4507483,NP_000352
7056	136170	Disease	p.Asp468Tyr	188040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188040	THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT	OMIM	63	cd00053	4507483,NP_000352
7056	136170	Disease	p.Ala25Thr	188040.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188040	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	OMIM	8	smart00034	4507483,NP_000352
7056	136170	Disease	p.Ala43Thr	188040.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188040	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6	OMIM	20	cd03594	4507483,NP_000352
7056	136170	Disease	p.Ala43Thr	188040.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188040	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6	OMIM	12	cd03598	4507483,NP_000352
7056	136170	Disease	p.Ala43Thr	188040.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188040	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6	OMIM	3	pfam00059	4507483,NP_000352
7056	136170	Disease	p.Ala43Thr	188040.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188040	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6	OMIM	28	cd00037	4507483,NP_000352
7056	136170	Disease	p.Ala43Thr	188040.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188040	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6	OMIM	64	smart00034	4507483,NP_000352
7056	136170	Disease	p.Ala43Thr	188040.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188040	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6	OMIM	14	cd03600	4507483,NP_000352
7056	136170	Disease	p.Asp53Gly	188040.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188040	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6	OMIM	30	cd03594	4507483,NP_000352
7056	136170	Disease	p.Asp53Gly	188040.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188040	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6	OMIM	22	cd03598	4507483,NP_000352
7056	136170	Disease	p.Asp53Gly	188040.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188040	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6	OMIM	13	pfam00059	4507483,NP_000352
7056	136170	Disease	p.Asp53Gly	188040.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188040	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6	OMIM	38	cd00037	4507483,NP_000352
7056	136170	Disease	p.Asp53Gly	188040.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188040	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6	OMIM	74	smart00034	4507483,NP_000352
7056	136170	Disease	p.Asp53Gly	188040.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188040	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6	OMIM	24	cd03600	4507483,NP_000352
7056	136170	Disease	p.Pro495Ser	188040.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188040	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6	OMIM	No Domain	N/A	4507483,NP_000352
7172	1730006	Disease	p.Ala80Pro	187680.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187680	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY	OMIM	42	pfam05724	4507653,NP_000358
7172	1730006	Disease	p.Ala154Thr	187680.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187680	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY	OMIM	119	pfam05724	4507653,NP_000358
7172	1730006	Disease	p.Ala154Thr	187680.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187680	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY	OMIM	119	pfam05724	4507653,NP_000358
7172	1730006	Disease	p.Tyr240Cys	187680.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187680	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY	OMIM	217	pfam05724	4507653,NP_000358
7172	1730006	Disease	p.Arg215His	187680.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187680	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY	OMIM	189	pfam05724	4507653,NP_000358
7172	1730006	Disease	p.Ala167Gly	187680.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187680	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY	OMIM	132	pfam05724	4507653,NP_000358
6997	117473	Disease	p.Pro125Leu	187395.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187395	FOREBRAIN DEFECTS	OMIM	12	pfam09443	4507425,NP_003203
6997	292494883	Disease	p.Pro125Leu	187395.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187395	FOREBRAIN DEFECTS	OMIM	28	pfam09443	NULL
7015	301129200	Disease	p.Ala202Thr	187270.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270	APLASTIC ANEMIA, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
7015	6226780	Disease	p.Ala202Thr	187270.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270	APLASTIC ANEMIA, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	109633031,NP_937983
7015	301129200	Disease	p.His412Tyr	187270.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270	APLASTIC ANEMIA, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
7015	6226780	Disease	p.His412Tyr	187270.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270	APLASTIC ANEMIA, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	109633031,NP_937983
7015	301129200	Disease	p.Val694Met	187270.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270	APLASTIC ANEMIA, SUSCEPTIBILITY TO	OMIM	195	cd01650	NULL
7015	6226780	Disease	p.Val694Met	187270.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270	APLASTIC ANEMIA, SUSCEPTIBILITY TO	OMIM	195	cd01650	109633031,NP_937983
7015	301129200	Disease	p.Tyr772Cys	187270.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270	APLASTIC ANEMIA, SUSCEPTIBILITY TO	OMIM	62	cd01648	NULL
7015	301129200	Disease	p.Tyr772Cys	187270.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270	APLASTIC ANEMIA, SUSCEPTIBILITY TO	OMIM	293	cd01650	NULL
7015	6226780	Disease	p.Tyr772Cys	187270.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270	APLASTIC ANEMIA, SUSCEPTIBILITY TO	OMIM	62	cd01648	109633031,NP_937983
7015	6226780	Disease	p.Tyr772Cys	187270.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270	APLASTIC ANEMIA, SUSCEPTIBILITY TO	OMIM	293	cd01650	109633031,NP_937983
7015	301129200	Disease	p.Val1090Met	187270.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270	APLASTIC ANEMIA, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
7015	6226780	Disease	p.Val1090Met	187270.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270	APLASTIC ANEMIA, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	109633031,NP_937983
7015	301129200	Disease	p.Lys902Asn	187270.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	OMIM	550	cd01648	NULL
7015	301129200	Disease	p.Lys902Asn	187270.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	OMIM	537	cd01650	NULL
7015	6226780	Disease	p.Lys902Asn	187270.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	OMIM	543	cd01648	109633031,NP_937983
7015	6226780	Disease	p.Lys902Asn	187270.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	OMIM	526	cd01650	109633031,NP_937983
7015	301129200	Disease	p.Arg865His	187270.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	503	cd01648	NULL
7015	301129200	Disease	p.Arg865His	187270.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	398	cd01650	NULL
7015	6226780	Disease	p.Arg865His	187270.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	503	cd01648	109633031,NP_937983
7015	6226780	Disease	p.Arg865His	187270.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187270	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	398	cd01650	109633031,NP_937983
3702	585361	Disease	p.Arg335Trp	186973.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186973	LYMPHOPROLIFERATIVE SYNDROME, EBV-ASSOCIATED, AUTOSOMAL, 1	OMIM	108	cd05107	15718680,NP_005537
3702	585361	Disease	p.Arg335Trp	186973.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186973	LYMPHOPROLIFERATIVE SYNDROME, EBV-ASSOCIATED, AUTOSOMAL, 1	OMIM	90	cd05104	15718680,NP_005537
3702	585361	Disease	p.Arg335Trp	186973.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186973	LYMPHOPROLIFERATIVE SYNDROME, EBV-ASSOCIATED, AUTOSOMAL, 1	OMIM	104	cd05054	15718680,NP_005537
3702	585361	Disease	p.Arg335Trp	186973.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186973	LYMPHOPROLIFERATIVE SYNDROME, EBV-ASSOCIATED, AUTOSOMAL, 1	OMIM	3	cd05106	15718680,NP_005537
3702	585361	Disease	p.Arg335Trp	186973.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186973	LYMPHOPROLIFERATIVE SYNDROME, EBV-ASSOCIATED, AUTOSOMAL, 1	OMIM	157	cd00173	15718680,NP_005537
925	116035	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	89	smart00406	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	123	smart00409	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	123	smart00410	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	84	cd00096	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	86	pfam07686	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	69	cd04982	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	71	cd00099	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	67	cd05720	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	89	smart00406	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	123	smart00409	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	123	smart00410	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	84	cd00096	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	86	pfam07686	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	69	cd04982	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	71	cd00099	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	67	cd05720	225007536,NP_001139345|22902134,NP_001759
925	27886642	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	89	smart00406	NULL
925	27886642	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	123	smart00409	NULL
925	27886642	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	123	smart00410	NULL
925	27886642	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	84	cd00096	NULL
925	27886642	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	86	pfam07686	NULL
925	27886642	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	69	cd04982	NULL
925	27886642	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	71	cd00099	NULL
925	27886642	Disease	p.Gly90Ser	186910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186910	CD8 DEFICIENCY, FAMILIAL	OMIM	67	cd05720	NULL
919	4557431	Disease	p.Gln70Trp	186780.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186780	IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA, SOMATIC	OMIM	2	smart00077	NULL
919	4557431	Disease	p.Gln70Trp	186780.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186780	IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA, SOMATIC	OMIM	2	pfam02189	NULL
919	23830999	Disease	p.Gln70Trp	186780.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186780	IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA, SOMATIC	OMIM	2	smart00077	37595565,NP_932170
919	23830999	Disease	p.Gln70Trp	186780.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186780	IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA, SOMATIC	OMIM	2	pfam02189	37595565,NP_932170
919	4557431	Disease	p.Gln70Leu	186780.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186780	IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA, SOMATIC	OMIM	2	smart00077	NULL
919	4557431	Disease	p.Gln70Leu	186780.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186780	IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA, SOMATIC	OMIM	2	pfam02189	NULL
919	23830999	Disease	p.Gln70Leu	186780.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186780	IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA, SOMATIC	OMIM	2	smart00077	37595565,NP_932170
919	23830999	Disease	p.Gln70Leu	186780.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186780	IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA, SOMATIC	OMIM	2	pfam02189	37595565,NP_932170
919	4557431	Disease	p.Gln70Tyr	186780.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186780	IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA, SOMATIC	OMIM	2	smart00077	NULL
919	4557431	Disease	p.Gln70Tyr	186780.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186780	IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA, SOMATIC	OMIM	2	pfam02189	NULL
919	23830999	Disease	p.Gln70Tyr	186780.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186780	IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA, SOMATIC	OMIM	2	smart00077	37595565,NP_932170
919	23830999	Disease	p.Gln70Tyr	186780.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186780	IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA, SOMATIC	OMIM	2	pfam02189	37595565,NP_932170
445347	51702238	Disease	p.Met1Val	186740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186740	IMMUNODEFICIENCY DUE TO DEFECT IN CD3-GAMMA	OMIM	No Domain	N/A	NULL
445347	51702236	Disease	p.Met1Val	186740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186740	IMMUNODEFICIENCY DUE TO DEFECT IN CD3-GAMMA	OMIM	No Domain	N/A	NULL
9672	114152873	Disease	p.Thr271Ile	186357.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186357	OBESITY, ASSOCIATION WITH	OMIM	295	pfam01034	187960059,NP_055469
9672	114152873	Disease	p.Val150Ile	186357.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=186357	OBESITY, ASSOCIATION WITH	OMIM	154	pfam01034	187960059,NP_055469
6834	2498973	Disease	p.Tyr274Asp	185620.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185620	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	838	pfam02104	4507319,NP_003163
6834	2498973	Disease	p.Tyr274Asp	185620.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185620	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	362	cd06662	4507319,NP_003163
6834	2498973	Disease	p.Tyr274Asp	185620.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185620	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	299	COG3346	4507319,NP_003163
6834	2498973	Disease	p.Gly124Glu	185620.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185620	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	202	pfam02104	4507319,NP_003163
6834	2498973	Disease	p.Gly124Glu	185620.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185620	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	76	cd06662	4507319,NP_003163
6834	2498973	Disease	p.Gly124Glu	185620.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185620	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY	OMIM	84	COG3346	4507319,NP_003163
4072	160266056	Disease	p.Cys66Tyr	185535.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185535	DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL	OMIM	2	cd00191	218505670,NP_002345
6649	108885292	Disease	p.Arg213Gly	185490.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185490	SUPEROXIDE DISMUTASE, ELEVATED EXTRACELLULAR	OMIM	No Domain	N/A	118582275,NP_003093
6390	20455488	Disease	p.Ala3Gly	185470.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185470	COWDEN-LIKE SYNDROME	OMIM	No Domain	N/A	115387094,NP_002991
6390	20455488	Disease	p.Ser163Pro	185470.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185470	COWDEN-LIKE SYNDROME	OMIM	163	COG0479	115387094,NP_002991
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	25	cd06966	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	25	cd06956	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	25	cd06969	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	25	cd07157	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	25	pfam00105	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	29	cd06964	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	29	cd07170	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	23	cd07154	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	23	cd07158	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	23	cd07156	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	23	cd06916	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	23	cd07164	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	23	cd06963	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	23	cd06958	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	23	cd06957	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	23	cd07155	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	23	cd06960	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	23	cd07165	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	23	cd07179	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	23	cd07167	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	30	cd06968	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	27	cd07172	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	35	smart00399	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	24	cd06959	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	24	cd06965	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	24	cd07162	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	24	cd06961	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	28	cd07173	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	28	cd07171	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	28	cd06967	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	28	cd07166	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	43	cd07160	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	26	cd06962	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	26	cd07161	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	31	cd06970	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	31	cd07168	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	31	cd07169	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	31	cd06955	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	184757.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	32	cd07163	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	184757.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	ADRENOCORTICAL INSUFFICIENCY	OMIM	67	cd06945	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	184757.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	ADRENOCORTICAL INSUFFICIENCY	OMIM	30	cd06931	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	184757.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	ADRENOCORTICAL INSUFFICIENCY	OMIM	30_G	cd06948	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	184757.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	ADRENOCORTICAL INSUFFICIENCY	OMIM	36	cd06943	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	184757.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	ADRENOCORTICAL INSUFFICIENCY	OMIM	14	cd07349	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	184757.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	ADRENOCORTICAL INSUFFICIENCY	OMIM	17	cd07350	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	184757.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	ADRENOCORTICAL INSUFFICIENCY	OMIM	34	cd06949	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	184757.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	ADRENOCORTICAL INSUFFICIENCY	OMIM	30	cd06950	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	184757.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	ADRENOCORTICAL INSUFFICIENCY	OMIM	38	cd07068	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	184757.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	ADRENOCORTICAL INSUFFICIENCY	OMIM	62	cd06946	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	184757.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	ADRENOCORTICAL INSUFFICIENCY	OMIM	22	cd06947	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	184757.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	ADRENOCORTICAL INSUFFICIENCY	OMIM	24	cd06953	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	184757.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	ADRENOCORTICAL INSUFFICIENCY	OMIM	35	cd07069	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	184757.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	ADRENOCORTICAL INSUFFICIENCY	OMIM	33	cd06944	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	184757.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	ADRENOCORTICAL INSUFFICIENCY	OMIM	33	cd07070	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	184757.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	ADRENOCORTICAL INSUFFICIENCY	OMIM	39	cd06938	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	184757.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	ADRENOCORTICAL INSUFFICIENCY	OMIM	14	cd06951	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	184757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	79_G	cd06966	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	184757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	92	cd07157	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	184757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	86	cd07170	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	184757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	79	cd06957	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	184757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	80	cd07165	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	184757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	83	cd07167	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	184757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	87	cd06968	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	184757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	86	cd06965	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	184757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	82	cd07162	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	184757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	87	cd06961	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	184757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	85	cd06967	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	184757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	85	cd07166	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	184757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	102	cd07160	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	184757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	83	cd06962	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	184757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	83	cd07161	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	184757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	89	cd06970	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	184757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	89	cd07168	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	184757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	88	cd07169	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	184757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	88	cd06955	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	184757.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITH ADRENAL FAILURE	OMIM	92	cd07163	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	5	cd06966	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	5	cd06956	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	5	cd06969	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	5	cd07157	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	5	pfam00105	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	9	cd06964	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	9	cd07170	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	3	cd07154	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	3	cd07158	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	3	cd07156	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	3	cd06916	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	3	cd07164	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	3	cd06963	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	3	cd06958	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	3	cd06957	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	3	cd07155	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	3	cd06960	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	3	cd07165	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	3	cd07179	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	3	cd07167	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	10	cd06968	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	7	cd07172	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	4	smart00399	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	4	cd06959	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	4	cd06965	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	4	cd07162	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	4	cd06961	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	8	cd07173	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	8	cd07171	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	8	cd06967	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	8	cd07166	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	23	cd07160	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	6	cd06962	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	6	cd07161	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	11	cd06970	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	11	cd07168	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	11	cd07169	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	11	cd06955	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	184757.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	12	cd07163	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	68	cd06966	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	68	cd06956	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	69	cd06969	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	78	cd07157	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	72	pfam00105	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	72	cd06964	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	72	cd07170	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	68	cd07154	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	67	cd07158	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	68	cd07156	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	84	cd06916	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	66	cd07164	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	66	cd06963	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	66	cd06958	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	67	cd06957	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	66	cd07155	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	69	cd06960	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	66	cd07165	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	74	cd07179	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	69	cd07167	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	73	cd06968	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	79	cd07172	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	135	smart00399	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	67	cd06959	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	71	cd06965	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	68	cd07162	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	73	cd06961	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	71	cd07173	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	72	cd07171	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	71	cd06967	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	72	cd07166	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	88	cd07160	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	69	cd06962	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	69	cd07161	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	75	cd06970	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	75	cd07168	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	74	cd07169	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	74	cd06955	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	184757.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	80	cd07163	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	184757.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	79_G	cd06966	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	184757.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	91	cd07157	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	184757.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	85	cd07170	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	184757.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	78	cd06957	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	184757.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	79	cd07165	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	184757.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	82	cd07167	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	184757.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	86	cd06968	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	184757.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	85	cd06965	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	184757.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	81	cd07162	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	184757.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	86	cd06961	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	184757.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	84	cd06967	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	184757.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	84	cd07166	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	184757.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	101	cd07160	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	184757.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	82	cd06962	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	184757.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	82	cd07161	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	184757.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	88	cd06970	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	184757.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	88	cd07168	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	184757.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	87	cd07169	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	184757.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	87	cd06955	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	184757.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	91	cd07163	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	184757.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	251	cd06945	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	184757.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	215	cd06931	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	184757.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	216	cd06948	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	184757.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	243	cd06943	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	184757.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	204	cd07349	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	184757.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	224	cd07350	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	184757.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	232	cd06949	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	184757.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	224	cd06950	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	184757.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	261	cd07068	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	184757.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	244	cd06946	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	184757.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	325	cd06947	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	184757.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	235	cd06952	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	184757.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	282	cd06953	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	184757.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	344	pfam00104	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	184757.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	217	cd07069	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	184757.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	223	cd06944	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	184757.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	216	cd07070	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	184757.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	222	cd06938	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	184757.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE	OMIM	218	cd06951	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	103	cd06945	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	34	cd06157	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	68	cd06931	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	32	cd06930	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	35	smart00430	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	64	cd06948	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	76	cd06943	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	52	cd07349	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	55	cd07350	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	72	cd06949	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	36	cd06929	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	62	cd06950	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	99	cd07068	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	99	cd06946	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	61	cd06947	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	54	cd06952	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	62	cd06953	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	73	cd07069	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	74	cd06944	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	72	cd07070	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	77	cd06938	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	184757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, COMPLETE, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	53	cd06951	20070193,NP_004950
2516	3121738	Disease	p.Met1Ile	184757.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	46,XY GONADAL DYSGENESIS, PARTIAL, WITHOUT ADRENAL FAILURE||PREMATURE OVARIAN FAILURE 7	OMIM	No Domain	N/A	20070193,NP_004950
2516	3121738	Disease	p.Gly123Ala	184757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184757	PREMATURE OVARIAN FAILURE 7	OMIM	No Domain	N/A	20070193,NP_004950
4254	134289	Disease	p.Asn36Ser	184745.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184745	HYPERPIGMENTATION, FAMILIAL PROGRESSIVE	OMIM	36	pfam02404	4505175,NP_000890
4254	4580420	Disease	p.Asn36Ser	184745.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184745	HYPERPIGMENTATION, FAMILIAL PROGRESSIVE	OMIM	36	pfam02404	NULL
6657	1351091	Disease	p.Leu97Pro	184429.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429	MICROPHTHALMIA, SYNDROMIC 3	OMIM	83	smart00398	28195386,NP_003097
6657	1351091	Disease	p.Leu97Pro	184429.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429	MICROPHTHALMIA, SYNDROMIC 3	OMIM	68	cd01389	28195386,NP_003097
6657	1351091	Disease	p.Leu97Pro	184429.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429	MICROPHTHALMIA, SYNDROMIC 3	OMIM	60	cd01388	28195386,NP_003097
6657	1351091	Disease	p.Leu97Pro	184429.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429	MICROPHTHALMIA, SYNDROMIC 3	OMIM	59	pfam00505	28195386,NP_003097
6657	1351091	Disease	p.Leu97Pro	184429.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429	MICROPHTHALMIA, SYNDROMIC 3	OMIM	68	cd01390	28195386,NP_003097
6657	1351091	Disease	p.Leu97Pro	184429.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429	MICROPHTHALMIA, SYNDROMIC 3	OMIM	75	cd00084	28195386,NP_003097
6657	1351091	Disease	p.Arg74Pro	184429.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429	MICROPHTHALMIA, SYNDROMIC 3	OMIM	54	smart00398	28195386,NP_003097
6657	1351091	Disease	p.Arg74Pro	184429.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429	MICROPHTHALMIA, SYNDROMIC 3	OMIM	44	cd01389	28195386,NP_003097
6657	1351091	Disease	p.Arg74Pro	184429.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429	MICROPHTHALMIA, SYNDROMIC 3	OMIM	37	cd01388	28195386,NP_003097
6657	1351091	Disease	p.Arg74Pro	184429.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429	MICROPHTHALMIA, SYNDROMIC 3	OMIM	36	pfam00505	28195386,NP_003097
6657	1351091	Disease	p.Arg74Pro	184429.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429	MICROPHTHALMIA, SYNDROMIC 3	OMIM	45	cd01390	28195386,NP_003097
6657	1351091	Disease	p.Arg74Pro	184429.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429	MICROPHTHALMIA, SYNDROMIC 3	OMIM	48	cd00084	28195386,NP_003097
6657	1351091	Disease	p.Asn46Lys	184429.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429	MICROPHTHALMIA, SYNDROMIC 3	OMIM	7	smart00398	28195386,NP_003097
6657	1351091	Disease	p.Asn46Lys	184429.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429	MICROPHTHALMIA, SYNDROMIC 3	OMIM	7	cd01389	28195386,NP_003097
6657	1351091	Disease	p.Asn46Lys	184429.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429	MICROPHTHALMIA, SYNDROMIC 3	OMIM	7	cd01388	28195386,NP_003097
6657	1351091	Disease	p.Asn46Lys	184429.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429	MICROPHTHALMIA, SYNDROMIC 3	OMIM	6	pfam00505	28195386,NP_003097
6657	1351091	Disease	p.Asn46Lys	184429.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429	MICROPHTHALMIA, SYNDROMIC 3	OMIM	6	cd01390	28195386,NP_003097
6657	1351091	Disease	p.Asn46Lys	184429.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429	MICROPHTHALMIA, SYNDROMIC 3	OMIM	6	cd00084	28195386,NP_003097
6657	1351091	Disease	p.Gly130Ala	184429.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429	OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM	OMIM	21	pfam12336	28195386,NP_003097
6657	1351091	Disease	p.Ala191Thr	184429.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=184429	OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM	OMIM	80	pfam12336	28195386,NP_003097
6710	67782321	Disease	p.Ala2053Pro	182870.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	ELLIPTOCYTOSIS 3	OMIM	87	smart00150	NULL
6710	215274269	Disease	p.Ala2053Pro	182870.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	ELLIPTOCYTOSIS 3	OMIM	87	smart00150	67782319,NP_000338
6710	215274269	Disease	p.Ala2053Pro	182870.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	ELLIPTOCYTOSIS 3	OMIM	225	cd00176	67782319,NP_000338
6710	67782321	Disease	p.Trp202Arg	182870.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT||SPECTRIN KISSIMMEE	OMIM	77	smart00033	NULL
6710	67782321	Disease	p.Trp202Arg	182870.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT||SPECTRIN KISSIMMEE	OMIM	119	pfam00307	NULL
6710	67782321	Disease	p.Trp202Arg	182870.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT||SPECTRIN KISSIMMEE	OMIM	40	cd00014	NULL
6710	67782321	Disease	p.Trp202Arg	182870.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT||SPECTRIN KISSIMMEE	OMIM	20	pfam11971	NULL
6710	67782321	Disease	p.Trp202Arg	182870.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT||SPECTRIN KISSIMMEE	OMIM	181	COG5069	NULL
6710	215274269	Disease	p.Trp202Arg	182870.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT||SPECTRIN KISSIMMEE	OMIM	77	smart00033	67782319,NP_000338
6710	215274269	Disease	p.Trp202Arg	182870.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT||SPECTRIN KISSIMMEE	OMIM	119	pfam00307	67782319,NP_000338
6710	215274269	Disease	p.Trp202Arg	182870.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT||SPECTRIN KISSIMMEE	OMIM	40	cd00014	67782319,NP_000338
6710	215274269	Disease	p.Trp202Arg	182870.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT||SPECTRIN KISSIMMEE	OMIM	20	pfam11971	67782319,NP_000338
6710	215274269	Disease	p.Trp202Arg	182870.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT||SPECTRIN KISSIMMEE	OMIM	181	COG5069	67782319,NP_000338
6710	67782321	Disease	p.Ala2018Gly	182870.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	PYROPOIKILOCYTOSIS, HEREDITARY||ELLIPTOCYTOSIS 3	OMIM	7	smart00150	NULL
6710	215274269	Disease	p.Ala2018Gly	182870.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	PYROPOIKILOCYTOSIS, HEREDITARY||ELLIPTOCYTOSIS 3	OMIM	7	smart00150	67782319,NP_000338
6710	215274269	Disease	p.Ala2018Gly	182870.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	PYROPOIKILOCYTOSIS, HEREDITARY||ELLIPTOCYTOSIS 3	OMIM	142	cd00176	67782319,NP_000338
6710	67782321	Disease	p.Ser2019Pro	182870.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	SPECTRIN PROVIDENCE	OMIM	8	smart00150	NULL
6710	215274269	Disease	p.Ser2019Pro	182870.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	SPECTRIN PROVIDENCE	OMIM	8	smart00150	67782319,NP_000338
6710	215274269	Disease	p.Ser2019Pro	182870.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	SPECTRIN PROVIDENCE	OMIM	143	cd00176	67782319,NP_000338
6710	67782321	Disease	p.Leu2025Arg	182870.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	ANEMIA, NEONATAL HEMOLYTIC, FATAL AND NEAR-FATAL	OMIM	15	smart00150	NULL
6710	215274269	Disease	p.Leu2025Arg	182870.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	ANEMIA, NEONATAL HEMOLYTIC, FATAL AND NEAR-FATAL	OMIM	15	smart00150	67782319,NP_000338
6710	215274269	Disease	p.Leu2025Arg	182870.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	ANEMIA, NEONATAL HEMOLYTIC, FATAL AND NEAR-FATAL	OMIM	166	cd00176	67782319,NP_000338
6710	67782321	Disease	p.Arg2064Pro	182870.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	ELLIPTOCYTOSIS 3 DUE TO SPECTRIN COSENZA	OMIM	106	smart00150	NULL
6710	215274269	Disease	p.Arg2064Pro	182870.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	ELLIPTOCYTOSIS 3 DUE TO SPECTRIN COSENZA	OMIM	106	smart00150	67782319,NP_000338
6710	215274269	Disease	p.Arg2064Pro	182870.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	ELLIPTOCYTOSIS 3 DUE TO SPECTRIN COSENZA	OMIM	250	cd00176	67782319,NP_000338
6710	67782321	Disease	p.Met1Val	182870.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	ELLIPTOCYTOSIS 3 DUE TO SPECTRIN PROMISSAO	OMIM	No Domain	N/A	NULL
6710	215274269	Disease	p.Met1Val	182870.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182870	ELLIPTOCYTOSIS 3 DUE TO SPECTRIN PROMISSAO	OMIM	No Domain	N/A	67782319,NP_000338
6708	308153675	Disease	p.Leu260Pro	182860.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	ELLIPTOCYTOSIS 2	OMIM	350	smart00150	115298659,NP_003117
6708	308153675	Disease	p.Leu260Pro	182860.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	ELLIPTOCYTOSIS 2	OMIM	121	pfam00435	115298659,NP_003117
6708	308153675	Disease	p.Leu260Pro	182860.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	ELLIPTOCYTOSIS 2	OMIM	332	cd00176	115298659,NP_003117
6708	308153675	Disease	p.Gln471Pro	182860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	ELLIPTOCYTOSIS 2	OMIM	120	pfam00435	115298659,NP_003117
6708	308153675	Disease	p.Gln471Pro	182860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	ELLIPTOCYTOSIS 2	OMIM	349	smart00150	115298659,NP_003117
6708	308153675	Disease	p.Gln471Pro	182860.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	ELLIPTOCYTOSIS 2	OMIM	331	cd00176	115298659,NP_003117
6708	308153675	Disease	p.Ser261Pro	182860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	ELLIPTOCYTOSIS 2	OMIM	122	pfam00435	115298659,NP_003117
6708	308153675	Disease	p.Ser261Pro	182860.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	ELLIPTOCYTOSIS 2	OMIM	333	cd00176	115298659,NP_003117
6708	308153675	Disease	p.Arg45Ser	182860.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	PYROPOIKILOCYTOSIS, HEREDITARY||ELLIPTOCYTOSIS 2	OMIM	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Gly46Val	182860.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	ELLIPTOCYTOSIS 2	OMIM	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Leu48Phe	182860.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	ELLIPTOCYTOSIS 2	OMIM	No Domain	N/A	115298659,NP_003117
79742	193804856	Disease	p.Leu48Phe	182860.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	MOVED TO 182860.0014	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Leu48Phe	182860.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	MOVED TO 182860.0014	OMIM	No Domain	N/A	193804854,NP_789789
6708	308153675	Disease	p.Ala970Asp	182860.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE	OMIM	123_G	smart00150	115298659,NP_003117
6708	308153675	Disease	p.Ala970Asp	182860.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE	OMIM	89	cd00176	115298659,NP_003117
6708	308153675	Disease	p.Arg41Trp	182860.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	ELLIPTOCYTOSIS 2	OMIM	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Arg28Leu	182860.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	ELLIPTOCYTOSIS 2	OMIM	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Arg28Ser	182860.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	ELLIPTOCYTOSIS 2||PYROPOIKILOCYTOSIS, HEREDITARY	OMIM	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Arg28Cys	182860.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	ELLIPTOCYTOSIS 2||PYROPOIKILOCYTOSIS, HEREDITARY	OMIM	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Arg28His	182860.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	ELLIPTOCYTOSIS 2||PYROPOIKILOCYTOSIS, HEREDITARY	OMIM	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Leu207Pro	182860.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	PYROPOIKILOCYTOSIS, HEREDITARY||ELLIPTOCYTOSIS 2	OMIM	93	smart00150	115298659,NP_003117
6708	308153675	Disease	p.Leu207Pro	182860.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	PYROPOIKILOCYTOSIS, HEREDITARY||ELLIPTOCYTOSIS 2	OMIM	56	pfam00435	115298659,NP_003117
6708	308153675	Disease	p.Leu207Pro	182860.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	PYROPOIKILOCYTOSIS, HEREDITARY||ELLIPTOCYTOSIS 2	OMIM	230	cd00176	115298659,NP_003117
6708	308153675	Disease	p.Lys48Arg	182860.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	PYROPOIKILOCYTOSIS, HEREDITARY	OMIM	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Asp791Glu	182860.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182860	ELLIPTOCYTOSIS 2	OMIM	131	cd00176	115298659,NP_003117
6654	6094322	Disease	p.Thr266Lys	182530.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182530	NOONAN SYNDROME 4	OMIM	124	smart00325	15529996,NP_005624
6654	6094322	Disease	p.Thr266Lys	182530.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182530	NOONAN SYNDROME 4	OMIM	198	pfam00621	15529996,NP_005624
6654	6094322	Disease	p.Thr266Lys	182530.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182530	NOONAN SYNDROME 4	OMIM	77	cd00160	15529996,NP_005624
6654	6094322	Disease	p.Met269Arg	182530.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182530	NOONAN SYNDROME 4	OMIM	127	smart00325	15529996,NP_005624
6654	6094322	Disease	p.Met269Arg	182530.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182530	NOONAN SYNDROME 4	OMIM	246	pfam00621	15529996,NP_005624
6654	6094322	Disease	p.Met269Arg	182530.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182530	NOONAN SYNDROME 4	OMIM	80	cd00160	15529996,NP_005624
6654	6094322	Disease	p.Arg552Gly	182530.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182530	NOONAN SYNDROME 4	OMIM	No Domain	N/A	15529996,NP_005624
6654	6094322	Disease	p.Arg552Ser	182530.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182530	NOONAN SYNDROME 4	OMIM	No Domain	N/A	15529996,NP_005624
6654	6094322	Disease	p.Trp432Arg	182530.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182530	NOONAN SYNDROME 4	OMIM	No Domain	N/A	15529996,NP_005624
6755	12644225	Disease	p.Arg240Trp	182455.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182455	SOMATOSTATIN ANALOG, RESISTANCE TO	OMIM	358	pfam00001	4557865,NP_001044|289547754,NP_001166031
6755	12644225	Disease	p.Arg240Trp	182455.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182455	SOMATOSTATIN ANALOG, RESISTANCE TO	OMIM	308	pfam10324	4557865,NP_001044|289547754,NP_001166031
6755	12644225	Disease	p.Arg240Trp	182455.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182455	SOMATOSTATIN ANALOG, RESISTANCE TO	OMIM	206	pfam10320	4557865,NP_001044|289547754,NP_001166031
6755	12644225	Disease	p.Arg240Trp	182455.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182455	SOMATOSTATIN ANALOG, RESISTANCE TO	OMIM	247	pfam10328	4557865,NP_001044|289547754,NP_001166031
6755	12644225	Disease	p.Arg240Trp	182455.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182455	SOMATOSTATIN ANALOG, RESISTANCE TO	OMIM	358	pfam00001	4557865,NP_001044|289547754,NP_001166031
6755	12644225	Disease	p.Arg240Trp	182455.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182455	SOMATOSTATIN ANALOG, RESISTANCE TO	OMIM	308	pfam10324	4557865,NP_001044|289547754,NP_001166031
6755	12644225	Disease	p.Arg240Trp	182455.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182455	SOMATOSTATIN ANALOG, RESISTANCE TO	OMIM	206	pfam10320	4557865,NP_001044|289547754,NP_001166031
6755	12644225	Disease	p.Arg240Trp	182455.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182455	SOMATOSTATIN ANALOG, RESISTANCE TO	OMIM	247	pfam10328	4557865,NP_001044|289547754,NP_001166031
6326	93141214	Disease	p.Arg188Trp	182390.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	50	pfam00520	NULL
6326	25014053	Disease	p.Arg188Trp	182390.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	50	pfam00520	93141212,NP_001035232|93141210,NP_066287
6326	25014053	Disease	p.Arg188Trp	182390.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	50	pfam00520	93141212,NP_001035232|93141210,NP_066287
6326	93141214	Disease	p.Leu1330Phe	182390.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	169	pfam00520	NULL
6326	25014053	Disease	p.Leu1330Phe	182390.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	169	pfam00520	93141212,NP_001035232|93141210,NP_066287
6326	25014053	Disease	p.Leu1330Phe	182390.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	169	pfam00520	93141212,NP_001035232|93141210,NP_066287
6326	93141214	Disease	p.Leu1563Val	182390.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	No Domain	N/A	NULL
6326	25014053	Disease	p.Leu1563Val	182390.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	No Domain	N/A	93141212,NP_001035232|93141210,NP_066287
6326	25014053	Disease	p.Leu1563Val	182390.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	No Domain	N/A	93141212,NP_001035232|93141210,NP_066287
6326	93141214	Disease	p.Val892Ile	182390.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	188	pfam00520	NULL
6326	25014053	Disease	p.Val892Ile	182390.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	188	pfam00520	93141212,NP_001035232|93141210,NP_066287
6326	25014053	Disease	p.Val892Ile	182390.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	188	pfam00520	93141212,NP_001035232|93141210,NP_066287
6326	93141214	Disease	p.Arg223Gln	182390.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	139	pfam00520	NULL
6326	25014053	Disease	p.Arg223Gln	182390.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	139	pfam00520	93141212,NP_001035232|93141210,NP_066287
6326	25014053	Disease	p.Arg223Gln	182390.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	139	pfam00520	93141212,NP_001035232|93141210,NP_066287
6326	93141214	Disease	p.Arg1319Gln	182390.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	149	pfam00520	NULL
6326	25014053	Disease	p.Arg1319Gln	182390.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	149	pfam00520	93141212,NP_001035232|93141210,NP_066287
6326	25014053	Disease	p.Arg1319Gln	182390.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	149	pfam00520	93141212,NP_001035232|93141210,NP_066287
6326	93141214	Disease	p.Leu1003Ile	182390.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	7	pfam06512	NULL
6326	25014053	Disease	p.Leu1003Ile	182390.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	7	pfam06512	93141212,NP_001035232|93141210,NP_066287
6326	25014053	Disease	p.Leu1003Ile	182390.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182390	CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3	OMIM	7	pfam06512	93141212,NP_001035232|93141210,NP_066287
6323	115583677	Disease	p.Arg1648His	182389.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	160	pfam00520	NULL
6323	260166635	Disease	p.Arg1648His	182389.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	183	pfam00520	NULL
6323	12644229	Disease	p.Arg1648His	182389.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	145	pfam00520	260166633,NP_001159435
6323	115583677	Disease	p.Thr875Met	182389.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	173	pfam00520	NULL
6323	260166635	Disease	p.Thr875Met	182389.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	190	pfam00520	NULL
6323	12644229	Disease	p.Thr875Met	182389.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	152	pfam00520	260166633,NP_001159435
6323	115583677	Disease	p.Asp188Val	182389.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	51	pfam00520	NULL
6323	260166635	Disease	p.Asp188Val	182389.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	51	pfam00520	NULL
6323	12644229	Disease	p.Asp188Val	182389.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	51	pfam00520	260166633,NP_001159435
6323	115583677	Disease	p.Val1353Leu	182389.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	194	pfam00520	NULL
6323	260166635	Disease	p.Val1353Leu	182389.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	211	pfam00520	NULL
6323	12644229	Disease	p.Val1353Leu	182389.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	183	pfam00520	260166633,NP_001159435
6323	115583677	Disease	p.Ile1656Met	182389.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	174	pfam00520	NULL
6323	260166635	Disease	p.Ile1656Met	182389.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	191	pfam00520	NULL
6323	12644229	Disease	p.Ile1656Met	182389.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	157	pfam00520	260166633,NP_001159435
6323	115583677	Disease	p.Trp1204Arg	182389.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	429	pfam06512	NULL
6323	260166635	Disease	p.Trp1204Arg	182389.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	No Domain	N/A	NULL
6323	12644229	Disease	p.Trp1204Arg	182389.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	418	pfam06512	260166633,NP_001159435
6323	115583677	Disease	p.Leu986Phe	182389.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	MYOCLONIC EPILEPSY, SEVERE, OF INFANCY	OMIM	No Domain	N/A	NULL
6323	260166635	Disease	p.Leu986Phe	182389.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	MYOCLONIC EPILEPSY, SEVERE, OF INFANCY	OMIM	9	pfam06512	NULL
6323	12644229	Disease	p.Leu986Phe	182389.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	MYOCLONIC EPILEPSY, SEVERE, OF INFANCY	OMIM	402	pfam00520	260166633,NP_001159435
6323	115583677	Disease	p.Lys1270Thr	182389.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	50	pfam00520	NULL
6323	260166635	Disease	p.Lys1270Thr	182389.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	67	pfam00520	NULL
6323	12644229	Disease	p.Lys1270Thr	182389.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	17	pfam00520	260166633,NP_001159435
6323	115583677	Disease	p.Val1428Ala	182389.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	349	pfam00520	NULL
6323	260166635	Disease	p.Val1428Ala	182389.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	381	pfam00520	NULL
6323	12644229	Disease	p.Val1428Ala	182389.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	338	pfam00520	260166633,NP_001159435
6323	115583677	Disease	p.Gln1489Lys	182389.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	MIGRAINE, FAMILIAL HEMIPLEGIC, 3	OMIM	No Domain	N/A	NULL
6323	260166635	Disease	p.Gln1489Lys	182389.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	MIGRAINE, FAMILIAL HEMIPLEGIC, 3	OMIM	No Domain	N/A	NULL
6323	12644229	Disease	p.Gln1489Lys	182389.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	MIGRAINE, FAMILIAL HEMIPLEGIC, 3	OMIM	No Domain	N/A	260166633,NP_001159435
6323	115583677	Disease	p.Thr1709Ile	182389.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	EPILEPSY, INTRACTABLE CHILDHOOD, WITH GENERALIZED TONIC-CLONIC SEIZURES||GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	338	pfam00520	NULL
6323	260166635	Disease	p.Thr1709Ile	182389.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	EPILEPSY, INTRACTABLE CHILDHOOD, WITH GENERALIZED TONIC-CLONIC SEIZURES||GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	355	pfam00520	NULL
6323	12644229	Disease	p.Thr1709Ile	182389.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	EPILEPSY, INTRACTABLE CHILDHOOD, WITH GENERALIZED TONIC-CLONIC SEIZURES||GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	327	pfam00520	260166633,NP_001159435
6323	115583677	Disease	p.Val1611Phe	182389.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	EPILEPSY, INTRACTABLE CHILDHOOD, WITH GENERALIZED TONIC-CLONIC SEIZURES||GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	71	pfam00520	NULL
6323	260166635	Disease	p.Val1611Phe	182389.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	EPILEPSY, INTRACTABLE CHILDHOOD, WITH GENERALIZED TONIC-CLONIC SEIZURES||GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	130	pfam00520	NULL
6323	12644229	Disease	p.Val1611Phe	182389.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	EPILEPSY, INTRACTABLE CHILDHOOD, WITH GENERALIZED TONIC-CLONIC SEIZURES||GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	OMIM	60	pfam00520	260166633,NP_001159435
6323	115583677	Disease	p.Met145Thr	182389.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	FEBRILE CONVULSIONS, FAMILIAL, 3A	OMIM	No Domain	N/A	NULL
6323	260166635	Disease	p.Met145Thr	182389.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	FEBRILE CONVULSIONS, FAMILIAL, 3A	OMIM	No Domain	N/A	NULL
6323	12644229	Disease	p.Met145Thr	182389.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	FEBRILE CONVULSIONS, FAMILIAL, 3A	OMIM	No Domain	N/A	260166633,NP_001159435
6323	115583677	Disease	p.Phe1499Leu	182389.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	MIGRAINE, FAMILIAL HEMIPLEGIC, 3	OMIM	No Domain	N/A	NULL
6323	260166635	Disease	p.Phe1499Leu	182389.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	MIGRAINE, FAMILIAL HEMIPLEGIC, 3	OMIM	No Domain	N/A	NULL
6323	12644229	Disease	p.Phe1499Leu	182389.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	MIGRAINE, FAMILIAL HEMIPLEGIC, 3	OMIM	No Domain	N/A	260166633,NP_001159435
6323	115583677	Disease	p.Gln1489His	182389.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	MIGRAINE, FAMILIAL HEMIPLEGIC, 3	OMIM	No Domain	N/A	NULL
6323	260166635	Disease	p.Gln1489His	182389.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	MIGRAINE, FAMILIAL HEMIPLEGIC, 3	OMIM	No Domain	N/A	NULL
6323	12644229	Disease	p.Gln1489His	182389.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182389	MIGRAINE, FAMILIAL HEMIPLEGIC, 3	OMIM	No Domain	N/A	260166633,NP_001159435
6524	400337	Disease	p.Asn654Ser	182381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182381	RENAL GLUCOSURIA	OMIM	No Domain	N/A	4507033,NP_003032
6523	127803	Disease	p.Asp28Asn	182380.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182380	GLUCOSE/GALACTOSE MALABSORPTION	OMIM	2	COG4145	4507031,NP_000334
6523	127803	Disease	p.Asp28Asn	182380.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182380	GLUCOSE/GALACTOSE MALABSORPTION	OMIM	5	COG0591	4507031,NP_000334
6523	127803	Disease	p.Asp28Asn	182380.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182380	GLUCOSE/GALACTOSE MALABSORPTION	OMIM	8	COG4147	4507031,NP_000334
6523	127803	Disease	p.Asp28Asn	182380.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182380	GLUCOSE/GALACTOSE MALABSORPTION	OMIM	5	COG4146	4507031,NP_000334
6523	127803	Disease	p.Asp28Gly	182380.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182380	GLUCOSE/GALACTOSE MALABSORPTION	OMIM	2	COG4145	4507031,NP_000334
6523	127803	Disease	p.Asp28Gly	182380.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182380	GLUCOSE/GALACTOSE MALABSORPTION	OMIM	5	COG0591	4507031,NP_000334
6523	127803	Disease	p.Asp28Gly	182380.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182380	GLUCOSE/GALACTOSE MALABSORPTION	OMIM	8	COG4147	4507031,NP_000334
6523	127803	Disease	p.Asp28Gly	182380.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182380	GLUCOSE/GALACTOSE MALABSORPTION	OMIM	5	COG4146	4507031,NP_000334
478	116241260	Disease	p.Thr613Met	182350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	554	COG2216	22748667,NP_689509
478	116241260	Disease	p.Thr613Met	182350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	933	COG2217	22748667,NP_689509
478	116241260	Disease	p.Thr613Met	182350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	1247	COG0474	22748667,NP_689509
478	116241260	Disease	p.Ile274Thr	182350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	227_G	COG2216	22748667,NP_689509
478	116241260	Disease	p.Ile274Thr	182350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	380	pfam00122	22748667,NP_689509
478	116241260	Disease	p.Ile274Thr	182350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	549	COG2217	22748667,NP_689509
478	116241260	Disease	p.Ile274Thr	182350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	509	COG0474	22748667,NP_689509
478	116241260	Disease	p.Glu277Lys	182350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	229	COG2216	22748667,NP_689509
478	116241260	Disease	p.Glu277Lys	182350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	383	pfam00122	22748667,NP_689509
478	116241260	Disease	p.Glu277Lys	182350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	552	COG2217	22748667,NP_689509
478	116241260	Disease	p.Glu277Lys	182350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	512	COG0474	22748667,NP_689509
478	116241260	Disease	p.Ile758Ser	182350.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	671	COG2216	22748667,NP_689509
478	116241260	Disease	p.Ile758Ser	182350.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	1048	COG2217	22748667,NP_689509
478	116241260	Disease	p.Ile758Ser	182350.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	1562	COG0474	22748667,NP_689509
478	116241260	Disease	p.Phe780Leu	182350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	704	COG2216	22748667,NP_689509
478	116241260	Disease	p.Phe780Leu	182350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	1069	COG2217	22748667,NP_689509
478	116241260	Disease	p.Phe780Leu	182350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	1584	COG0474	22748667,NP_689509
478	116241260	Disease	p.Asp801Tyr	182350.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	757	COG2216	22748667,NP_689509
478	116241260	Disease	p.Asp801Tyr	182350.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	13	pfam00689	22748667,NP_689509
478	116241260	Disease	p.Asp801Tyr	182350.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	1094	COG2217	22748667,NP_689509
478	116241260	Disease	p.Asp801Tyr	182350.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	1618	COG0474	22748667,NP_689509
478	116241260	Disease	p.Asp923Asn	182350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	265	pfam00689	22748667,NP_689509
478	116241260	Disease	p.Asp923Asn	182350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182350	DYSTONIA 12	OMIM	1756	COG0474	22748667,NP_689509
477	1703467	Disease	p.Leu764Pro	182340.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	670	COG2216	4502271,NP_000693
477	1703467	Disease	p.Leu764Pro	182340.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	1047	COG2217	4502271,NP_000693
477	1703467	Disease	p.Leu764Pro	182340.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	1561	COG0474	4502271,NP_000693
477	1703467	Disease	p.Trp887Arg	182340.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	137	pfam00689	4502271,NP_000693
477	1703467	Disease	p.Trp887Arg	182340.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	1715	COG0474	4502271,NP_000693
477	1703467	Disease	p.Met731Thr	182340.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	612	COG2216	4502271,NP_000693
477	1703467	Disease	p.Met731Thr	182340.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	1003	COG2217	4502271,NP_000693
477	1703467	Disease	p.Met731Thr	182340.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	1411	COG0474	4502271,NP_000693
477	1703467	Disease	p.Arg689Gln	182340.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	570	COG2216	4502271,NP_000693
477	1703467	Disease	p.Arg689Gln	182340.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	951	COG2217	4502271,NP_000693
477	1703467	Disease	p.Arg689Gln	182340.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	1367	COG0474	4502271,NP_000693
477	1703467	Disease	p.Thr378Asn	182340.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	ALTERNATING HEMIPLEGIA OF CHILDHOOD	OMIM	338	COG2216	4502271,NP_000693
477	1703467	Disease	p.Thr378Asn	182340.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	ALTERNATING HEMIPLEGIA OF CHILDHOOD	OMIM	683	COG2217	4502271,NP_000693
477	1703467	Disease	p.Thr378Asn	182340.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	ALTERNATING HEMIPLEGIA OF CHILDHOOD	OMIM	635	COG0474	4502271,NP_000693
477	1703467	Disease	p.Gly301Arg	182340.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	400	pfam00122	4502271,NP_000693
477	1703467	Disease	p.Gly301Arg	182340.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	247	COG2216	4502271,NP_000693
477	1703467	Disease	p.Gly301Arg	182340.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	569	COG2217	4502271,NP_000693
477	1703467	Disease	p.Gly301Arg	182340.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	528	COG0474	4502271,NP_000693
477	1703467	Disease	p.Thr345Ala	182340.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	554	pfam00122	4502271,NP_000693
477	1703467	Disease	p.Thr345Ala	182340.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	305	COG2216	4502271,NP_000693
477	1703467	Disease	p.Thr345Ala	182340.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	650	COG2217	4502271,NP_000693
477	1703467	Disease	p.Thr345Ala	182340.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	592	COG0474	4502271,NP_000693
477	1703467	Disease	p.Asp718Asn	182340.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	599	COG2216	4502271,NP_000693
477	1703467	Disease	p.Asp718Asn	182340.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	990	COG2217	4502271,NP_000693
477	1703467	Disease	p.Asp718Asn	182340.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	1398	COG0474	4502271,NP_000693
477	1703467	Disease	p.Pro979Leu	182340.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	382	pfam00689	4502271,NP_000693
477	1703467	Disease	p.Pro979Leu	182340.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	1842	COG0474	4502271,NP_000693
477	1703467	Disease	p.Arg548His	182340.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL BASILAR	OMIM	501	COG2216	4502271,NP_000693
477	1703467	Disease	p.Arg548His	182340.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL BASILAR	OMIM	862	COG2217	4502271,NP_000693
477	1703467	Disease	p.Arg548His	182340.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL BASILAR	OMIM	1155	COG0474	4502271,NP_000693
477	1703467	Disease	p.Ile286Thr	182340.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	384	pfam00122	4502271,NP_000693
477	1703467	Disease	p.Ile286Thr	182340.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	234	COG2216	4502271,NP_000693
477	1703467	Disease	p.Ile286Thr	182340.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	553	COG2217	4502271,NP_000693
477	1703467	Disease	p.Ile286Thr	182340.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	513	COG0474	4502271,NP_000693
477	1703467	Disease	p.Thr415Met	182340.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	363_G	COG2216	4502271,NP_000693
477	1703467	Disease	p.Thr415Met	182340.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	706_G	COG2217	4502271,NP_000693
477	1703467	Disease	p.Thr415Met	182340.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	782	COG0474	4502271,NP_000693
477	1703467	Disease	p.Arg65Trp	182340.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	46	smart00831	4502271,NP_000693
477	1703467	Disease	p.Arg65Trp	182340.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	8	COG2216	4502271,NP_000693
477	1703467	Disease	p.Arg65Trp	182340.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	50	pfam00690	4502271,NP_000693
477	1703467	Disease	p.Arg65Trp	182340.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	187	COG2217	4502271,NP_000693
477	1703467	Disease	p.Arg65Trp	182340.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	111	COG0474	4502271,NP_000693
477	1703467	Disease	p.Thr376Met	182340.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	336	COG2216	4502271,NP_000693
477	1703467	Disease	p.Thr376Met	182340.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	681	COG2217	4502271,NP_000693
477	1703467	Disease	p.Thr376Met	182340.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182340	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	OMIM	633	COG0474	4502271,NP_000693
6569	730113	Disease	p.Ala48Phe	182309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182309	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1	OMIM	No Domain	N/A	156627569,NP_003043
6569	262399385	Disease	p.Ala48Phe	182309.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182309	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1	OMIM	No Domain	N/A	NULL
6569	730113	Disease	p.Val147Met	182309.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182309	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1	OMIM	48	COG1283	156627569,NP_003043
6569	730113	Disease	p.Val147Met	182309.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182309	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1	OMIM	57	pfam02690	156627569,NP_003043
6569	262399385	Disease	p.Val147Met	182309.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182309	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1	OMIM	57	pfam02690	NULL
6532	4507043	Disease	p.Ile425Val	182138.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182138	OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO	OMIM	382	COG0733	NULL
6532	4507043	Disease	p.Ile425Val	182138.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182138	OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO	OMIM	441	pfam00209	NULL
6869	128359	Disease	p.Arg150Gly	182125.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182125	DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY	OMIM	113	pfam10320	4507343,NP_001049
6869	128359	Disease	p.Arg150Gly	182125.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182125	DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY	OMIM	116	pfam00001	4507343,NP_001049
6869	7669546	Disease	p.Arg150Gly	182125.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182125	DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY	OMIM	116	pfam00001	NULL
6869	128359	Disease	p.Pro163Leu	182125.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182125	DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY	OMIM	125_G	pfam10320	4507343,NP_001049
6869	128359	Disease	p.Pro163Leu	182125.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182125	DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY	OMIM	129	pfam00001	4507343,NP_001049
6869	7669546	Disease	p.Pro163Leu	182125.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182125	DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY	OMIM	129	pfam00001	NULL
2524	1730125	Disease	p.Ile129Phe	182100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182100	SECRETOR/NONSECRETOR POLYMORPHISM, JAPANESE TYPE	OMIM	113	pfam01531	148224427,NP_001091107|148237372,NP_000502
2524	1730125	Disease	p.Ile129Phe	182100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182100	SECRETOR/NONSECRETOR POLYMORPHISM, JAPANESE TYPE	OMIM	113	pfam01531	148224427,NP_001091107|148237372,NP_000502
191	239937451	Disease	p.Tyr143Cys	180960.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180960	HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE	OMIM	221	pfam05221	NULL
191	239937451	Disease	p.Tyr143Cys	180960.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180960	HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE	OMIM	213	cd00401	NULL
191	239937451	Disease	p.Tyr143Cys	180960.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180960	HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE	OMIM	221	COG0499	NULL
191	20141702	Disease	p.Tyr143Cys	180960.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180960	HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE	OMIM	175	COG0499	9951915,NP_000678
191	20141702	Disease	p.Tyr143Cys	180960.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180960	HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE	OMIM	144	cd00401	9951915,NP_000678
191	20141702	Disease	p.Tyr143Cys	180960.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180960	HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE	OMIM	193	pfam05221	9951915,NP_000678
6262	308153558	Disease	p.Ser2246Leu	180902.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180902	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1; CPVT1	OMIM	159	pfam01365	112799847,NP_001026
6262	308153558	Disease	p.Arg2474Ser	180902.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180902	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1; CPVT1	OMIM	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Asn4104Lys	180902.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180902	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1; CPVT1	OMIM	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Arg4497Cys	180902.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180902	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1; CPVT1	OMIM	226	pfam06459	112799847,NP_001026
6262	308153558	Disease	p.Asn2386Ile	180902.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180902	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2	OMIM	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Leu433Pro	180902.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180902	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2	OMIM	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Pro2328Ser	180902.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180902	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1; CPVT1	OMIM	244	pfam01365	112799847,NP_001026
6262	308153558	Disease	p.Val4653Phe	180902.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180902	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1; CPVT1	OMIM	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Gln4201Arg	180902.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180902	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1; CPVT1	OMIM	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Ala4860Gly	180902.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180902	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1; CPVT1	OMIM	401	pfam00520	112799847,NP_001026
6261	108935904	Disease	p.Arg614Cys	180901.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	210	pfam01365	113204615,NP_000531
6261	113204617	Disease	p.Arg614Cys	180901.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	210	pfam01365	NULL
6261	108935904	Disease	p.Arg248Gly	180901.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	81	smart00472	113204615,NP_000531
6261	108935904	Disease	p.Arg248Gly	180901.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	56	pfam02815	113204615,NP_000531
6261	113204617	Disease	p.Arg248Gly	180901.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	81	smart00472	NULL
6261	113204617	Disease	p.Arg248Gly	180901.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	56	pfam02815	NULL
6261	108935904	Disease	p.Arg2435His	180901.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	CENTRAL CORE DISEASE	OMIM	No Domain	N/A	113204615,NP_000531
6261	113204617	Disease	p.Arg2435His	180901.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	CENTRAL CORE DISEASE	OMIM	No Domain	N/A	NULL
6261	108935904	Disease	p.Arg163Cys	180901.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1||CENTRAL CORE DISEASE	OMIM	5	smart00472	113204615,NP_000531
6261	108935904	Disease	p.Arg163Cys	180901.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1||CENTRAL CORE DISEASE	OMIM	194	pfam08709	113204615,NP_000531
6261	113204617	Disease	p.Arg163Cys	180901.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1||CENTRAL CORE DISEASE	OMIM	5	smart00472	NULL
6261	113204617	Disease	p.Arg163Cys	180901.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1||CENTRAL CORE DISEASE	OMIM	194	pfam08709	NULL
6261	108935904	Disease	p.Ile403Met	180901.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	CENTRAL CORE DISEASE	OMIM	No Domain	N/A	113204615,NP_000531
6261	113204617	Disease	p.Ile403Met	180901.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	CENTRAL CORE DISEASE	OMIM	No Domain	N/A	NULL
6261	108935904	Disease	p.Gly341Arg	180901.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	252	pfam02815	113204615,NP_000531
6261	108935904	Disease	p.Gly341Arg	180901.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	91	smart00472	113204615,NP_000531
6261	113204617	Disease	p.Gly341Arg	180901.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	252	pfam02815	NULL
6261	113204617	Disease	p.Gly341Arg	180901.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	91	smart00472	NULL
6261	108935904	Disease	p.Gly2434Arg	180901.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	113204615,NP_000531
6261	113204617	Disease	p.Gly2434Arg	180901.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	NULL
6261	108935904	Disease	p.Arg2458Cys	180901.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	113204615,NP_000531
6261	113204617	Disease	p.Arg2458Cys	180901.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	NULL
6261	108935904	Disease	p.Arg2458His	180901.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	113204615,NP_000531
6261	113204617	Disease	p.Arg2458His	180901.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	NULL
6261	108935904	Disease	p.Arg2163Cys	180901.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	7	pfam01365	113204615,NP_000531
6261	113204617	Disease	p.Arg2163Cys	180901.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	7	pfam01365	NULL
6261	108935904	Disease	p.Arg2163His	180901.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1||CENTRAL CORE DISEASE	OMIM	7	pfam01365	113204615,NP_000531
6261	113204617	Disease	p.Arg2163His	180901.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1||CENTRAL CORE DISEASE	OMIM	7	pfam01365	NULL
6261	108935904	Disease	p.Ile4898Thr	180901.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	CENTRAL CORE DISEASE||MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	342	pfam00520	113204615,NP_000531
6261	113204617	Disease	p.Ile4898Thr	180901.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	CENTRAL CORE DISEASE||MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	349	pfam00520	NULL
6261	108935904	Disease	p.Val2168Met	180901.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	12	pfam01365	113204615,NP_000531
6261	113204617	Disease	p.Val2168Met	180901.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	12	pfam01365	NULL
6261	108935904	Disease	p.Thr2206Met	180901.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	53	pfam01365	113204615,NP_000531
6261	113204617	Disease	p.Thr2206Met	180901.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	53	pfam01365	NULL
6261	108935904	Disease	p.Thr4826Ile	180901.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	159	pfam00520	113204615,NP_000531
6261	113204617	Disease	p.Thr4826Ile	180901.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	169	pfam00520	NULL
6261	108935904	Disease	p.Tyr4796Cys	180901.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	CENTRAL CORE DISEASE||MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	54	pfam00520	113204615,NP_000531
6261	113204617	Disease	p.Tyr4796Cys	180901.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	CENTRAL CORE DISEASE||MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	61	pfam00520	NULL
6261	108935904	Disease	p.Arg4861His	180901.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	CENTRAL CORE DISEASE||NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER	OMIM	200	pfam00520	113204615,NP_000531
6261	113204617	Disease	p.Arg4861His	180901.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	CENTRAL CORE DISEASE||NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER	OMIM	205	pfam00520	NULL
79742	193804856	Disease	p.Arg4861His	180901.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MOVED TO 180901.0012	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Arg4861His	180901.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MOVED TO 180901.0012	OMIM	No Domain	N/A	193804854,NP_789789
6261	108935904	Disease	p.Pro3527Ser	180901.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	113204615,NP_000531
6261	113204617	Disease	p.Pro3527Ser	180901.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
6261	108935904	Disease	p.Val4849Ile	180901.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE||MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA	OMIM	188	pfam00520	113204615,NP_000531
6261	113204617	Disease	p.Val4849Ile	180901.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE||MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA	OMIM	193	pfam00520	NULL
6261	108935904	Disease	p.Arg2676Trp	180901.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	113204615,NP_000531
6261	113204617	Disease	p.Arg2676Trp	180901.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	NULL
6261	108935904	Disease	p.Arg109Trp	180901.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA	OMIM	14	smart00472	113204615,NP_000531
6261	108935904	Disease	p.Arg109Trp	180901.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA	OMIM	138	pfam08709	113204615,NP_000531
6261	113204617	Disease	p.Arg109Trp	180901.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA	OMIM	14	smart00472	NULL
6261	113204617	Disease	p.Arg109Trp	180901.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA	OMIM	138	pfam08709	NULL
6261	108935904	Disease	p.Met2423Lys	180901.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA	OMIM	No Domain	N/A	113204615,NP_000531
6261	113204617	Disease	p.Met2423Lys	180901.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA	OMIM	No Domain	N/A	NULL
6261	108935904	Disease	p.Ser3450Phe	180901.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA	OMIM	No Domain	N/A	113204615,NP_000531
6261	113204617	Disease	p.Ser3450Phe	180901.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA	OMIM	No Domain	N/A	NULL
6261	108935904	Disease	p.Thr4637Ala	180901.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	CENTRAL CORE DISEASE	OMIM	337	pfam06459	113204615,NP_000531
6261	113204617	Disease	p.Thr4637Ala	180901.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	CENTRAL CORE DISEASE	OMIM	343	pfam06459	NULL
6261	108935904	Disease	p.Tyr522Ser	180901.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1||CENTRAL CORE DISEASE	OMIM	110	pfam01365	113204615,NP_000531
6261	113204617	Disease	p.Tyr522Ser	180901.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180901	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1||CENTRAL CORE DISEASE	OMIM	110	pfam01365	NULL
6218	133825	Disease	p.Met1Arg	180472.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180472	DIAMOND-BLACKFAN ANEMIA 4	OMIM	No Domain	N/A	4506693,NP_001012
6165	22002061	Disease	p.Val33Ile	180468.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180468	DIAMOND-BLACKFAN ANEMIA 5	OMIM	37	COG2451	16117791,NP_000987
6165	22002061	Disease	p.Val33Ile	180468.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180468	DIAMOND-BLACKFAN ANEMIA 5	OMIM	33	pfam01247	16117791,NP_000987
22934	156637353	Disease	p.Ala61Val	180430.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180430	RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY	OMIM	No Domain	N/A	94536842,NP_653164
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	204	cd06657	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	204	cd07880	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	380	cd05611	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	219	cd06609	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	198	cd05597	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	233	cd06627	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	439	cd05581	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	218	cd07848	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	334	cd06606	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	235	cd06626	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	196	cd07847	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	191	cd07846	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	197	cd06621	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	196	cd06617	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	247	cd06623	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	212	cd06605	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	217	cd05045	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	250	cd05629	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	186	cd05612	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	213	cd06622	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	249	cd05598	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	196	cd05624	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	202	cd06917	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	194	cd07853	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	208	cd07837	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	188	cd06615	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	205	cd05609	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	200	cd05601	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	333	cd05573	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	236	cd05626	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	236	cd05625	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	224	cd05627	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	206	cd07857	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	251	cd05580	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	211	cd08528	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	186	cd05582	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	204	cd06629	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	288	cd07840	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	195	cd07831	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	192	cd05584	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	782	smart00220	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	227	cd05101	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	197	cd06645	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	205	cd06659	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	209	cd07864	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	189	cd06640	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	221	cd06652	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	241	cd06608	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	197	cd06653	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	208	cd06612	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	189	cd06641	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	196	cd06643	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	197	cd06613	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	226	cd05038	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	189	cd06642	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	189	cd05589	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	189	cd05605	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	189	cd05630	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	189	cd05631	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	189	cd05632	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	238	cd07866	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	199	cd05578	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	340	pfam00069	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	237	cd07838	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	843	smart00221	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	243	cd07829	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	190	cd08225	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	201	cd05118	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	264	cd07830	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	194	cd08229	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	194	cd08228	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	195	cd08224	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	204	cd07868	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	577	smart00219	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	188	cd08219	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	198	cd05080	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	219	cd07854	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	190	cd08223	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	231	cd05095	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	203	cd05074	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	189	cd08218	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	194	cd08222	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	197	cd05583	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	209	cd05613	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	195	cd05614	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	192	cd07836	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	191	cd07861	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	216	cd07835	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	204	cd07867	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	194	cd05587	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	189	cd05616	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	189	cd05615	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	212	cd06635	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	227	cd05056	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	199	cd05108	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	199	cd05109	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	199	cd05111	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	199	cd05110	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	202	cd05034	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	198	cd06625	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	214	cd06632	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	198	cd06631	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	184	cd05590	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	183	cd05595	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	199	cd05620	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	200	cd05592	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	184	cd05602	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	184	cd05571	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	184	cd05619	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	184	cd05594	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	184	cd05591	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	184	cd05617	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	184	cd05603	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	184	cd05588	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	184	cd05618	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	184	cd05575	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	186	cd05570	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	184	cd05604	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	213	cd05035	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	207	cd05044	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	183	cd05085	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	184	cd05084	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	186	cd05041	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	193	cd05060	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	186	cd05116	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	201	cd05040	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	197	cd06630	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	211	cd07832	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	426	cd00192	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	183	cd05593	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	197	cd05058	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	212	cd07843	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	196	cd08530	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	261	cd08217	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	304	cd07842	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	194	cd06620	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	194	cd08529	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	189	cd05112	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	242	cd06614	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	210	cd07876	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	206	cd06658	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	190	cd06649	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	258	cd07865	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	190	cd06650	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	224	cd05099	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	285	cd05574	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	197	cd06651	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	403	cd05599	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	385	pfam07714	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	201	cd08216	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	257	cd05600	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	253	cd05057	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	203	cd06644	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	197	cd06646	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	202	cd06607	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	203	cd06656	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	203	cd06655	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	204	cd06654	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	196	cd05623	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	213	cd07849	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	191	cd05069	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	212	cd06610	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	914	COG0515	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	254	cd05032	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	224	cd05628	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	200	cd05079	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	199	cd05081	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	192	cd05073	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	226	cd07855	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	194	cd05148	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	185	cd05083	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	197	cd05068	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	201	cd07859	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	198	cd08220	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	257	cd08215	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	188	cd07839	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	204	cd06628	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	192	cd08221	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	277	cd07834	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	233	cd05122	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	226	cd07841	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	193	cd05052	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	187	cd05082	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	198	cd07863	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	189	cd07860	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	212	cd07845	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	204	cd06624	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	204	cd06637	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	211	cd06618	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	236	cd05596	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	235	cd05621	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	235	cd05622	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	203	cd06647	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	214	cd07879	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	217	cd07852	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	193	cd07873	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	192	cd05072	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	209	cd05062	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	210	cd05061	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	194	cd07856	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	192	cd07871	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	192	cd07869	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	189	cd05114	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	193	cd07872	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	223	cd05050	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	202	cd07858	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	190	cd05113	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	192	cd07870	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	206	cd06616	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	193	cd07844	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	212	cd05036	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	202	cd06634	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	209	cd07850	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	206	cd07874	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	214	cd06636	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	202	cd06619	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	221	cd05097	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	228	cd06639	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	206	cd07877	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	198	cd06611	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	800	cd05123	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	185	cd05586	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	181	cd05585	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	185	cd05608	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	189	cd05577	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	183	cd05607	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	732	cd05579	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	186	cd05115	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	673	cd00180	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	259	cd05572	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	204	cd07878	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	204	cd06648	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	217	cd06638	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	213	cd07875	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	208	cd06633	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	224	cd07851	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	235	cd05043	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	184	cd05633	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	248	cd07833	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	180381.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	185	cd05606	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	215	cd06657	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	215	cd07880	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	391	cd05611	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	230	cd06609	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	209	cd05597	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	244	cd06627	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	450	cd05581	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	248	cd07848	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	346	cd06606	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	246	cd06626	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	226	cd07847	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	221	cd07846	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	208	cd06621	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	207	cd06617	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	258	cd06623	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	223	cd06605	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	235	cd05045	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	261	cd05629	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	197	cd05612	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	224	cd06622	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	260	cd05598	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	207	cd05624	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	213	cd06917	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	205	cd07853	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	219	cd07837	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	199	cd06615	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	216	cd05609	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	211	cd05601	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	344	cd05573	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	247	cd05626	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	247	cd05625	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	235	cd05627	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	217	cd07857	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	262	cd05580	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	222	cd08528	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	197	cd05582	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	215	cd06629	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	299	cd07840	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	206	cd07831	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	203	cd05584	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	794	smart00220	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	239	cd05101	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	208	cd06645	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	216	cd06659	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	220	cd07864	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	194_G	cd06640	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	232	cd06652	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	252	cd06608	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	208	cd06653	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	219	cd06612	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	200	cd06641	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	207	cd06643	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	208	cd06613	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	248	cd05038	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	194_G	cd06642	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	200	cd05589	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	200	cd05605	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	200	cd05630	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	200	cd05631	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	200	cd05632	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	248	cd07866	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	210	cd05578	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	362	pfam00069	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	249	cd07838	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	866	smart00221	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	255	cd07829	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	201	cd08225	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	232	cd05118	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	294	cd07830	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	205	cd08229	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	205	cd08228	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	206	cd08224	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	215	cd07868	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	595	smart00219	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	199	cd08219	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	209	cd05080	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	230	cd07854	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	201	cd08223	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	244	cd05095	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	213	cd05074	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	200	cd08218	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	205	cd08222	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	208	cd05583	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	220	cd05613	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	206	cd05614	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	203	cd07836	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	202	cd07861	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	227	cd07835	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	215	cd07867	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	205	cd05587	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	200	cd05616	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	200	cd05615	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	223	cd06635	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	239	cd05056	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	211	cd05108	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	214	cd05109	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	211	cd05111	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	216	cd05110	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	214	cd05034	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	209	cd06625	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	225	cd06632	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	209	cd06631	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	195	cd05590	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	194	cd05595	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	210	cd05620	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	211	cd05592	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	195	cd05602	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	195	cd05571	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	195	cd05619	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	195	cd05594	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	195	cd05591	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	195	cd05617	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	195	cd05603	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	195	cd05588	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	195	cd05618	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	195	cd05575	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	197	cd05570	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	195	cd05604	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	223	cd05035	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	219	cd05044	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	197	cd05085	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	195	cd05084	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	198	cd05041	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	205	cd05060	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	198	cd05116	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	213	cd05040	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	208	cd06630	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	250	cd07832	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	441	cd00192	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	194	cd05593	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	209	cd05058	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	223	cd07843	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	207	cd08530	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	272	cd08217	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	315	cd07842	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	205	cd06620	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	206	cd08529	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	201	cd05112	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	259	cd06614	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	221	cd07876	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	217	cd06658	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	201	cd06649	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	276	cd07865	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	201	cd06650	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	236	cd05099	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	296	cd05574	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	208	cd06651	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	414	cd05599	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	398	pfam07714	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	212	cd08216	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	268	cd05600	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	265	cd05057	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	214	cd06644	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	208	cd06646	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	213	cd06607	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	214	cd06656	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	214	cd06655	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	215	cd06654	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	207	cd05623	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	244	cd07849	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	203	cd05069	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	223	cd06610	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	933	COG0515	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	266	cd05032	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	235	cd05628	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	215	cd05079	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	214	cd05081	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	204	cd05073	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	237	cd07855	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	204	cd05148	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	197	cd05083	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	209	cd05068	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	212	cd07859	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	209	cd08220	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	269	cd08215	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	199	cd07839	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	215	cd06628	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	203	cd08221	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	299	cd07834	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	244	cd05122	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	237	cd07841	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	203	cd05052	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	199	cd05082	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	209	cd07863	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	200	cd07860	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	223	cd07845	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	215	cd06624	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	214	cd06637	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	222	cd06618	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	247	cd05596	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	246	cd05621	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	246	cd05622	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	214	cd06647	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	225	cd07879	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	228	cd07852	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	204	cd07873	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	204	cd05072	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	221	cd05062	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	222	cd05061	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	205	cd07856	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	203	cd07871	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	206	cd07869	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	201	cd05114	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	204	cd07872	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	236	cd05050	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	213	cd07858	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	202	cd05113	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	203	cd07870	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	217	cd06616	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	204	cd07844	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	224	cd05036	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	214	cd06634	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	240	cd07850	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	217	cd07874	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	224	cd06636	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	213	cd06619	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	234	cd05097	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	239	cd06639	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	217	cd07877	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	209	cd06611	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	811	cd05123	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	196	cd05586	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	192	cd05585	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	196	cd05608	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	200	cd05577	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	194	cd05607	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	743	cd05579	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	198	cd05115	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	684	cd00180	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	270	cd05572	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	215	cd07878	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	215	cd06648	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	234	cd06638	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	224	cd07875	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	218	cd06633	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	235	cd07851	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	247	cd05043	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	195	cd05633	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	278	cd07833	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	180381.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180381	OGUCHI DISEASE 2	OMIM	196	cd05606	4506529,NP_002920
6010	129207	Disease	p.Pro23His	180380.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	22	pfam10413	4506527,NP_000530
6010	129207	Disease	p.Pro347Leu	180380.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	No Domain	N/A	4506527,NP_000530
6010	129207	Disease	p.Pro347Ser	180380.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	No Domain	N/A	4506527,NP_000530
6010	129207	Disease	p.Thr58Arg	180380.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	20	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Thr58Arg	180380.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	19	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Thr58Arg	180380.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	15	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Thr17Met	180380.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	16	pfam10413	4506527,NP_000530
6010	129207	Disease	p.Phe45Leu	180380.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	4	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Phe45Leu	180380.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	6	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Phe45Leu	180380.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	3	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Val87Asp	180380.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	49	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Val87Asp	180380.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	32	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Val87Asp	180380.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	49	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Val87Asp	180380.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	49	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Gly89Asp	180380.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	51	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Gly89Asp	180380.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	34	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Gly89Asp	180380.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	51	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Gly89Asp	180380.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	51	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Gly106Trp	180380.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	74	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Gly106Trp	180380.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	60	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Gly106Trp	180380.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	94	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Gly106Trp	180380.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	72	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Arg135Leu	180380.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	145	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Arg135Leu	180380.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	92	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Arg135Leu	180380.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	123	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Arg135Leu	180380.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	102	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Arg135Trp	180380.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4||RETINITIS PUNCTATA ALBESCENS	OMIM	145	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Arg135Trp	180380.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4||RETINITIS PUNCTATA ALBESCENS	OMIM	92	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Arg135Trp	180380.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4||RETINITIS PUNCTATA ALBESCENS	OMIM	123	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Arg135Trp	180380.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4||RETINITIS PUNCTATA ALBESCENS	OMIM	102	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Tyr178Cys	180380.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	189	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Tyr178Cys	180380.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	138	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Tyr178Cys	180380.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	184	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Tyr178Cys	180380.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	147	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Asp190Gly	180380.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	242	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Asp190Gly	180380.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	162	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Asp190Gly	180380.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	196	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Asp190Gly	180380.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	159	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Lys296Glu	180380.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	413	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Lys296Glu	180380.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	420	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Lys296Glu	180380.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	326_G	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Lys296Glu	180380.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	288	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Asp190Asn	180380.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	242	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Asp190Asn	180380.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	162	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Asp190Asn	180380.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	196	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Asp190Asn	180380.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	159	pfam10323	4506527,NP_000530
6010	129207	Disease	p.His211Pro	180380.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	273	pfam10324	4506527,NP_000530
6010	129207	Disease	p.His211Pro	180380.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	188	pfam00001	4506527,NP_000530
6010	129207	Disease	p.His211Pro	180380.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	239	pfam10317	4506527,NP_000530
6010	129207	Disease	p.His211Pro	180380.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	180	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Pro347Arg	180380.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	No Domain	N/A	4506527,NP_000530
6010	129207	Disease	p.Gly182Ser	180380.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	208	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Gly182Ser	180380.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	142	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Gly182Ser	180380.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	188	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Gly182Ser	180380.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	151	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Pro267Leu	180380.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	344	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Pro267Leu	180380.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	381	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Pro267Leu	180380.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	295	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Pro267Leu	180380.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	257	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Pro53Arg	180380.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	15	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Pro53Arg	180380.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	14	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Pro53Arg	180380.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	10	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Gly106Arg	180380.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	74	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Gly106Arg	180380.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	60	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Gly106Arg	180380.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	94	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Gly106Arg	180380.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	72	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Asp190Tyr	180380.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	242	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Asp190Tyr	180380.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	162	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Asp190Tyr	180380.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	196	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Asp190Tyr	180380.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	159	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Arg207Met	180380.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	265	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Arg207Met	180380.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	184	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Arg207Met	180380.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	235	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Arg207Met	180380.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	176	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Asn15Ser	180380.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	14	pfam10413	4506527,NP_000530
6010	129207	Disease	p.Met207Arg	180380.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	265	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Met207Arg	180380.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	184	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Met207Arg	180380.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	235	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Met207Arg	180380.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	176	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Ala292Glu	180380.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1	OMIM	406	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Ala292Glu	180380.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1	OMIM	416	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Ala292Glu	180380.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1	OMIM	324	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Ala292Glu	180380.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1	OMIM	284	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Gly90Asp	180380.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1	OMIM	52	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Gly90Asp	180380.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1	OMIM	35	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Gly90Asp	180380.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1	OMIM	52	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Gly90Asp	180380.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1	OMIM	52	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Glu150Lys	180380.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA, AUTOSOMAL RECESSIVE	OMIM	160	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Glu150Lys	180380.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA, AUTOSOMAL RECESSIVE	OMIM	107	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Glu150Lys	180380.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA, AUTOSOMAL RECESSIVE	OMIM	138	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Glu150Lys	180380.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA, AUTOSOMAL RECESSIVE	OMIM	118	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Gly51Arg	180380.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	13	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Gly51Arg	180380.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	12	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Gly51Arg	180380.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	8_G	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Cys110Tyr	180380.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	86	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Cys110Tyr	180380.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	67	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Cys110Tyr	180380.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	98	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Cys110Tyr	180380.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	79	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Gly114Asp	180380.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	111	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Gly114Asp	180380.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	71	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Gly114Asp	180380.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	102	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Gly114Asp	180380.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	83	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Ala164Glu	180380.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	174	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Ala164Glu	180380.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	124	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Ala164Glu	180380.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	154	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Ala164Glu	180380.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	133	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Pro171Ser	180380.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	181	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Pro171Ser	180380.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	131	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Pro171Ser	180380.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	177	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Pro171Ser	180380.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	140	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Val345Leu	180380.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	No Domain	N/A	4506527,NP_000530
6010	129207	Disease	p.Pro347Gln	180380.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	No Domain	N/A	4506527,NP_000530
6010	129207	Disease	p.Thr94Ile	180380.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1	OMIM	56	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Thr94Ile	180380.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1	OMIM	39	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Thr94Ile	180380.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1	OMIM	56	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Thr94Ile	180380.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1	OMIM	56	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Pro23Ala	180380.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	22	pfam10413	4506527,NP_000530
6010	129207	Disease	p.Val345Met	180380.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180380	RETINITIS PIGMENTOSA 4	OMIM	No Domain	N/A	4506527,NP_000530
6005	218511807	Disease	p.Ser79Asn	180297.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180297	RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE	OMIM	69	pfam00909	156627565,NP_000315
6005	218511807	Disease	p.Ser79Asn	180297.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180297	RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE	OMIM	42	COG0004	156627565,NP_000315
6005	218511807	Disease	p.Gly279Glu	180297.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180297	RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE	OMIM	328	pfam00909	156627565,NP_000315
6005	218511807	Disease	p.Gly279Glu	180297.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180297	RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE	OMIM	374	COG0004	156627565,NP_000315
6005	218511807	Disease	p.Met1Ile	180297.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180297	RH-MOD SYNDROME	OMIM	No Domain	N/A	156627565,NP_000315
6005	218511807	Disease	p.Val270Ile	180297.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180297	RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE	OMIM	319	pfam00909	156627565,NP_000315
6005	218511807	Disease	p.Val270Ile	180297.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180297	RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE	OMIM	365	COG0004	156627565,NP_000315
6005	218511807	Disease	p.Gly380Val	180297.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180297	RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE	OMIM	463	pfam00909	156627565,NP_000315
6005	218511807	Disease	p.Gly380Val	180297.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180297	RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE	OMIM	519	COG0004	156627565,NP_000315
5433	3024558	Disease	p.Ile41Asn	180250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180250	RETINOL-BINDING PROTEIN DEFICIENCY	OMIM	45	COG5250	4758574,NP_004796
5433	3024558	Disease	p.Ile41Asn	180250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180250	RETINOL-BINDING PROTEIN DEFICIENCY	OMIM	25	smart00657	4758574,NP_004796
5433	3024558	Disease	p.Ile41Asn	180250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180250	RETINOL-BINDING PROTEIN DEFICIENCY	OMIM	11	pfam03874	4758574,NP_004796
5433	3024558	Disease	p.Gly75Asp	180250.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180250	RETINOL-BINDING PROTEIN DEFICIENCY	OMIM	141	COG5250	4758574,NP_004796
5433	3024558	Disease	p.Gly75Asp	180250.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180250	RETINOL-BINDING PROTEIN DEFICIENCY	OMIM	69	smart00657	4758574,NP_004796
5433	3024558	Disease	p.Gly75Asp	180250.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180250	RETINOL-BINDING PROTEIN DEFICIENCY	OMIM	175	pfam03874	4758574,NP_004796
6017	117391	Disease	p.Arg150Gln	180090.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180090	FUNDUS ALBIPUNCTATUS||RETINITIS PUNCTATA ALBESCENS	OMIM	14	smart00516	4506541,NP_000317
6017	117391	Disease	p.Arg150Gln	180090.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180090	FUNDUS ALBIPUNCTATUS||RETINITIS PUNCTATA ALBESCENS	OMIM	20	cd00170	4506541,NP_000317
6017	117391	Disease	p.Arg234Trp	180090.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180090	BOTHNIA RETINAL DYSTROPHY||RETINITIS PUNCTATA ALBESCENS	OMIM	140	pfam00650	4506541,NP_000317
6017	117391	Disease	p.Arg234Trp	180090.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180090	BOTHNIA RETINAL DYSTROPHY||RETINITIS PUNCTATA ALBESCENS	OMIM	223	smart00516	4506541,NP_000317
6017	117391	Disease	p.Arg234Trp	180090.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180090	BOTHNIA RETINAL DYSTROPHY||RETINITIS PUNCTATA ALBESCENS	OMIM	158	cd00170	4506541,NP_000317
6017	117391	Disease	p.Met225Lys	180090.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180090	RETINITIS PUNCTATA ALBESCENS	OMIM	129	pfam00650	4506541,NP_000317
6017	117391	Disease	p.Met225Lys	180090.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180090	RETINITIS PUNCTATA ALBESCENS	OMIM	213	smart00516	4506541,NP_000317
6017	117391	Disease	p.Met225Lys	180090.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180090	RETINITIS PUNCTATA ALBESCENS	OMIM	149	cd00170	4506541,NP_000317
5158	223718037	Disease	p.His557Tyr	180072.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180072	RETINITIS PIGMENTOSA 40	OMIM	2	cd00077	NULL
5158	223718037	Disease	p.His557Tyr	180072.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180072	RETINITIS PIGMENTOSA 40	OMIM	2	pfam00233	NULL
5158	223718037	Disease	p.His557Tyr	180072.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180072	RETINITIS PIGMENTOSA 40	OMIM	4	smart00471	NULL
5158	105990537	Disease	p.His557Tyr	180072.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180072	RETINITIS PIGMENTOSA 40	OMIM	2	cd00077	NULL
5158	105990537	Disease	p.His557Tyr	180072.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180072	RETINITIS PIGMENTOSA 40	OMIM	2	pfam00233	NULL
5158	105990537	Disease	p.His557Tyr	180072.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180072	RETINITIS PIGMENTOSA 40	OMIM	4	smart00471	NULL
5158	223718019	Disease	p.His557Tyr	180072.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180072	RETINITIS PIGMENTOSA 40	OMIM	No Domain	N/A	NULL
5158	223718037	Disease	p.His258Asn	180072.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180072	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2	OMIM	7	smart00065	NULL
5158	223718037	Disease	p.His258Asn	180072.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180072	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2	OMIM	7	pfam01590	NULL
5158	105990537	Disease	p.His258Asn	180072.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180072	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2	OMIM	7	smart00065	NULL
5158	105990537	Disease	p.His258Asn	180072.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180072	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2	OMIM	7	pfam01590	NULL
5158	223718019	Disease	p.His258Asn	180072.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180072	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2	OMIM	No Domain	N/A	NULL
5158	223718037	Disease	p.Trp807Arg	180072.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180072	RETINITIS PIGMENTOSA 40	OMIM	No Domain	N/A	NULL
5158	105990537	Disease	p.Trp807Arg	180072.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180072	RETINITIS PIGMENTOSA 40	OMIM	No Domain	N/A	NULL
5158	223718019	Disease	p.Trp807Arg	180072.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180072	RETINITIS PIGMENTOSA 40	OMIM	No Domain	N/A	NULL
5145	215274230	Disease	p.Ser344Arg	180071.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180071	RETINITIS PIGMENTOSA 43	OMIM	172	pfam01590	170650674,NP_000431
5145	215274230	Disease	p.Ser344Arg	180071.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180071	RETINITIS PIGMENTOSA 43	OMIM	226	smart00065	170650674,NP_000431
6121	44888872	Disease	p.Pro363Thr	180069.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180069	RETINITIS PIGMENTOSA 20	OMIM	414	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Pro363Thr	180069.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180069	RETINITIS PIGMENTOSA 20	OMIM	1138	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Leu341Ser	180069.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180069	RETINITIS PIGMENTOSA 20	OMIM	391	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Leu341Ser	180069.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180069	RETINITIS PIGMENTOSA 20	OMIM	1069	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Ala132Thr	180069.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180069	RETINITIS PIGMENTOSA 20	OMIM	156	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Ala132Thr	180069.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180069	RETINITIS PIGMENTOSA 20	OMIM	334	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Arg91Trp	180069.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180069	RETINITIS PIGMENTOSA 20	OMIM	118	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Arg91Trp	180069.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180069	RETINITIS PIGMENTOSA 20	OMIM	177	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Val452Gly	180069.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180069	RETINITIS PIGMENTOSA 20	OMIM	485	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Val452Gly	180069.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180069	RETINITIS PIGMENTOSA 20	OMIM	1522	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Arg515Trp	180069.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180069	RETINITIS PIGMENTOSA 20||LEBER CONGENITAL AMAUROSIS 2	OMIM	549	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Arg515Trp	180069.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180069	RETINITIS PIGMENTOSA 20||LEBER CONGENITAL AMAUROSIS 2	OMIM	1835	pfam03055	4506591,NP_000320
147040	74708977	Disease	p.Arg230Lys	179820.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179820	RENAL TUBULAR DYSGENESIS	OMIM	No Domain	N/A	51036594,NP_001002914
147040	74708977	Disease	p.Leu16Arg	179820.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179820	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2	OMIM	53	pfam02214	51036594,NP_001002914
5897	2498830	Disease	p.Cys476Tyr	179616.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179616	SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE	OMIM	484	pfam03089	151301080,NP_000527
5897	2498830	Disease	p.Arg229Gln	179616.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179616	SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE||OMENN SYNDROME	OMIM	230	pfam03089	151301080,NP_000527
5897	2498830	Disease	p.Cys41Trp	179616.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179616	OMENN SYNDROME	OMIM	41	pfam03089	151301080,NP_000527
5897	2498830	Disease	p.Met285Arg	179616.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179616	OMENN SYNDROME	OMIM	287	pfam03089	151301080,NP_000527
5897	2498830	Disease	p.Gly95Arg	179616.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179616	OMENN SYNDROME	OMIM	95	pfam03089	151301080,NP_000527
5897	2498830	Disease	p.Trp215Ile	179616.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179616	SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE	OMIM	216	pfam03089	151301080,NP_000527
5897	2498830	Disease	p.Arg39Gly	179616.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179616	SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE||OMENN SYNDROME	OMIM	39	pfam03089	151301080,NP_000527
5897	2498830	Disease	p.Thr77Asn	179616.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179616	COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS	OMIM	77	pfam03089	151301080,NP_000527
5897	2498830	Disease	p.Gly451Ala	179616.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179616	COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS	OMIM	459	pfam03089	151301080,NP_000527
5896	131827	Disease	p.Glu722Lys	179615.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179615	SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE	OMIM	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Ala156Val	179615.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179615	RECOMBINATION ACTIVATING GENE 1 POLYMORPHISM	OMIM	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg561His	179615.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179615	OMENN SYNDROME	OMIM	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg396Cys	179615.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179615	OMENN SYNDROME	OMIM	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Tyr912Cys	179615.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179615	OMENN SYNDROME	OMIM	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg396His	179615.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179615	OMENN SYNDROME	OMIM	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Asp429Gly	179615.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179615	OMENN SYNDROME	OMIM	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg561Cys	179615.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179615	OMENN SYNDROME||SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE	OMIM	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg737His	179615.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179615	OMENN SYNDROME	OMIM	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg841Trp	179615.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179615	ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY	OMIM	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Gln981Pro	179615.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179615	ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY	OMIM	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg314Trp	179615.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179615	COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS	OMIM	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg507Trp	179615.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179615	COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS	OMIM	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg778Gln	179615.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179615	COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS	OMIM	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg975Trp	179615.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179615	COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS	OMIM	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Cys328Tyr	179615.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179615	OMENN SYNDROME	OMIM	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg776Trp	179615.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179615	SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE	OMIM	No Domain	N/A	4557841,NP_000439
5961	118572596	Disease	p.Pro216Leu	179605.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7	OMIM	95	cd03155	NULL
5961	118572596	Disease	p.Pro216Leu	179605.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7	OMIM	112	cd03127	NULL
5961	118572596	Disease	p.Pro216Leu	179605.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7	OMIM	140	cd03162	NULL
5961	118572596	Disease	p.Pro216Leu	179605.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7	OMIM	85	cd03158	NULL
5961	118572596	Disease	p.Pro216Leu	179605.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7	OMIM	417	pfam00335	NULL
5961	118572596	Disease	p.Leu185Pro	179605.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7, DIGENIC	OMIM	77	cd03166	NULL
5961	118572596	Disease	p.Leu185Pro	179605.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7, DIGENIC	OMIM	80	cd03165	NULL
5961	118572596	Disease	p.Leu185Pro	179605.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7, DIGENIC	OMIM	69_G	cd03155	NULL
5961	118572596	Disease	p.Leu185Pro	179605.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7, DIGENIC	OMIM	75	cd03127	NULL
5961	118572596	Disease	p.Leu185Pro	179605.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7, DIGENIC	OMIM	66	cd03162	NULL
5961	118572596	Disease	p.Leu185Pro	179605.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7, DIGENIC	OMIM	64	cd03158	NULL
5961	118572596	Disease	p.Leu185Pro	179605.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7, DIGENIC	OMIM	343	pfam00335	NULL
5961	118572596	Disease	p.Arg172Gln	179605.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	49	cd03166	NULL
5961	118572596	Disease	p.Arg172Gln	179605.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	56	cd03165	NULL
5961	118572596	Disease	p.Arg172Gln	179605.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	58	cd03155	NULL
5961	118572596	Disease	p.Arg172Gln	179605.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	62	cd03127	NULL
5961	118572596	Disease	p.Arg172Gln	179605.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	53	cd03162	NULL
5961	118572596	Disease	p.Arg172Gln	179605.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	54	cd03158	NULL
5961	118572596	Disease	p.Arg172Gln	179605.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	327	pfam00335	NULL
5961	118572596	Disease	p.Arg172Trp	179605.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	49	cd03166	NULL
5961	118572596	Disease	p.Arg172Trp	179605.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	56	cd03165	NULL
5961	118572596	Disease	p.Arg172Trp	179605.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	58	cd03155	NULL
5961	118572596	Disease	p.Arg172Trp	179605.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	62	cd03127	NULL
5961	118572596	Disease	p.Arg172Trp	179605.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	53	cd03162	NULL
5961	118572596	Disease	p.Arg172Trp	179605.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	54	cd03158	NULL
5961	118572596	Disease	p.Arg172Trp	179605.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	327	pfam00335	NULL
5961	118572596	Disease	p.Gly167Asp	179605.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	MACULAR DYSTROPHY, PATTERNED	OMIM	44	cd03166	NULL
5961	118572596	Disease	p.Gly167Asp	179605.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	MACULAR DYSTROPHY, PATTERNED	OMIM	51	cd03165	NULL
5961	118572596	Disease	p.Gly167Asp	179605.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	MACULAR DYSTROPHY, PATTERNED	OMIM	53	cd03155	NULL
5961	118572596	Disease	p.Gly167Asp	179605.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	MACULAR DYSTROPHY, PATTERNED	OMIM	57	cd03127	NULL
5961	118572596	Disease	p.Gly167Asp	179605.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	MACULAR DYSTROPHY, PATTERNED	OMIM	48	cd03162	NULL
5961	118572596	Disease	p.Gly167Asp	179605.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	MACULAR DYSTROPHY, PATTERNED	OMIM	49	cd03158	NULL
5961	118572596	Disease	p.Gly167Asp	179605.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	MACULAR DYSTROPHY, PATTERNED	OMIM	320	pfam00335	NULL
5961	118572596	Disease	p.Asn244Lys	179605.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7, WITH BULL'S-EYE MACULOPATHY	OMIM	132	cd03155	NULL
5961	118572596	Disease	p.Asn244Lys	179605.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7, WITH BULL'S-EYE MACULOPATHY	OMIM	150	cd03127	NULL
5961	118572596	Disease	p.Asn244Lys	179605.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7, WITH BULL'S-EYE MACULOPATHY	OMIM	169	cd03162	NULL
5961	118572596	Disease	p.Asn244Lys	179605.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7, WITH BULL'S-EYE MACULOPATHY	OMIM	121	cd03158	NULL
5961	118572596	Disease	p.Asn244Lys	179605.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7, WITH BULL'S-EYE MACULOPATHY	OMIM	462	pfam00335	NULL
5961	118572596	Disease	p.Pro210Arg	179605.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH CHOROIDAL NEOVASCULARIZATION	OMIM	89	cd03155	NULL
5961	118572596	Disease	p.Pro210Arg	179605.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH CHOROIDAL NEOVASCULARIZATION	OMIM	106	cd03127	NULL
5961	118572596	Disease	p.Pro210Arg	179605.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH CHOROIDAL NEOVASCULARIZATION	OMIM	134	cd03162	NULL
5961	118572596	Disease	p.Pro210Arg	179605.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH CHOROIDAL NEOVASCULARIZATION	OMIM	79	cd03158	NULL
5961	118572596	Disease	p.Pro210Arg	179605.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH CHOROIDAL NEOVASCULARIZATION	OMIM	411	pfam00335	NULL
5961	118572596	Disease	p.Met1Thr	179605.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET	OMIM	No Domain	N/A	NULL
5961	118572596	Disease	p.Asp173Val	179605.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7	OMIM	50	cd03166	NULL
5961	118572596	Disease	p.Asp173Val	179605.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7	OMIM	57	cd03165	NULL
5961	118572596	Disease	p.Asp173Val	179605.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7	OMIM	59	cd03155	NULL
5961	118572596	Disease	p.Asp173Val	179605.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7	OMIM	63	cd03127	NULL
5961	118572596	Disease	p.Asp173Val	179605.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7	OMIM	54	cd03162	NULL
5961	118572596	Disease	p.Asp173Val	179605.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7	OMIM	55	cd03158	NULL
5961	118572596	Disease	p.Asp173Val	179605.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	RETINITIS PIGMENTOSA 7	OMIM	328	pfam00335	NULL
5961	118572596	Disease	p.Arg195Leu	179605.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	98	cd03166	NULL
5961	118572596	Disease	p.Arg195Leu	179605.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	119	cd03165	NULL
5961	118572596	Disease	p.Arg195Leu	179605.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	77	cd03155	NULL
5961	118572596	Disease	p.Arg195Leu	179605.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	91	cd03127	NULL
5961	118572596	Disease	p.Arg195Leu	179605.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	119	cd03162	NULL
5961	118572596	Disease	p.Arg195Leu	179605.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	68_G	cd03158	NULL
5961	118572596	Disease	p.Arg195Leu	179605.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	396	pfam00335	NULL
5961	118572596	Disease	p.Arg142Trp	179605.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	23	cd03166	NULL
5961	118572596	Disease	p.Arg142Trp	179605.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	24	cd03165	NULL
5961	118572596	Disease	p.Arg142Trp	179605.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	23	cd03155	NULL
5961	118572596	Disease	p.Arg142Trp	179605.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	23	cd03127	NULL
5961	118572596	Disease	p.Arg142Trp	179605.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	23	cd03162	NULL
5961	118572596	Disease	p.Arg142Trp	179605.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	24	cd03158	NULL
5961	118572596	Disease	p.Arg142Trp	179605.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179605	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2	OMIM	281	pfam00335	NULL
5962	464541	Disease	p.Asp578Asn	179410.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179410	DEAFNESS, AUTOSOMAL RECESSIVE, 24	OMIM	293	pfam00769	4506467,NP_002897
5162	291084858	Disease	p.Tyr132Cys	179060.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179060	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY	OMIM	108	COG3958	NULL
5162	291084858	Disease	p.Tyr132Cys	179060.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179060	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY	OMIM	114	COG0022	NULL
5162	291084858	Disease	p.Tyr132Cys	179060.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179060	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY	OMIM	514	smart00861	NULL
5162	291084858	Disease	p.Tyr132Cys	179060.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179060	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY	OMIM	106	cd06586	NULL
5162	291084858	Disease	p.Tyr132Cys	179060.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179060	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY	OMIM	111	cd07036	NULL
5162	291084858	Disease	p.Tyr132Cys	179060.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179060	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY	OMIM	142	cd07033	NULL
5162	291084858	Disease	p.Tyr132Cys	179060.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179060	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY	OMIM	157	pfam02779	NULL
5162	134044259	Disease	p.Tyr132Cys	179060.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179060	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY	OMIM	101	COG3958	156564403,NP_000916
5162	134044259	Disease	p.Tyr132Cys	179060.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179060	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY	OMIM	114	COG0022	156564403,NP_000916
5162	134044259	Disease	p.Tyr132Cys	179060.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179060	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY	OMIM	415	smart00861	156564403,NP_000916
5162	134044259	Disease	p.Tyr132Cys	179060.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179060	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY	OMIM	106	cd06586	156564403,NP_000916
5162	134044259	Disease	p.Tyr132Cys	179060.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179060	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY	OMIM	111	cd07036	156564403,NP_000916
5162	134044259	Disease	p.Tyr132Cys	179060.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179060	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY	OMIM	127	cd07033	156564403,NP_000916
5162	134044259	Disease	p.Tyr132Cys	179060.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179060	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY	OMIM	138	pfam02779	156564403,NP_000916
5162	291084858	Disease	p.Pro344Ser	179060.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179060	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY	OMIM	No Domain	N/A	NULL
5162	134044259	Disease	p.Pro344Ser	179060.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179060	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY	OMIM	307_G	COG3958	156564403,NP_000916
5162	134044259	Disease	p.Pro344Ser	179060.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179060	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY	OMIM	349	COG0022	156564403,NP_000916
5162	134044259	Disease	p.Pro344Ser	179060.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179060	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY	OMIM	139	pfam02780	156564403,NP_000916
5831	24797095	Disease	p.Arg266Gln	179035.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179035	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB	OMIM	319	COG0345	NULL
5831	60416434	Disease	p.Arg266Gln	179035.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179035	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB	OMIM	319	COG0345	24797097,NP_008838
5831	24797095	Disease	p.Gly206Trp	179035.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179035	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB	OMIM	238	COG0345	NULL
5831	60416434	Disease	p.Gly206Trp	179035.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179035	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB	OMIM	238	COG0345	24797097,NP_008838
5831	24797095	Disease	p.Arg266Gln	179035.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179035	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB	OMIM	319	COG0345	NULL
5831	60416434	Disease	p.Arg266Gln	179035.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179035	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB	OMIM	319	COG0345	24797097,NP_008838
5831	24797095	Disease	p.Arg119Gly	179035.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179035	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB	OMIM	148	COG0345	NULL
5831	24797095	Disease	p.Arg119Gly	179035.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179035	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB	OMIM	166	pfam01210	NULL
5831	60416434	Disease	p.Arg119Gly	179035.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179035	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB	OMIM	148	COG0345	24797097,NP_008838
5831	60416434	Disease	p.Arg119Gly	179035.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179035	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB	OMIM	166	pfam01210	24797097,NP_008838
5831	24797095	Disease	p.Arg119His	179035.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179035	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB	OMIM	148	COG0345	NULL
5831	24797095	Disease	p.Arg119His	179035.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179035	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB	OMIM	166	pfam01210	NULL
5831	60416434	Disease	p.Arg119His	179035.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179035	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB	OMIM	148	COG0345	24797097,NP_008838
5831	60416434	Disease	p.Arg119His	179035.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179035	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB	OMIM	166	pfam01210	24797097,NP_008838
5831	24797095	Disease	p.Arg251His	179035.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179035	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB	OMIM	304	COG0345	NULL
5831	60416434	Disease	p.Arg251His	179035.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=179035	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB	OMIM	304	COG0345	24797097,NP_008838
729238	148886696	Disease	p.Gly231Val	178642.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	124	cd03594	NULL
729238	148886696	Disease	p.Gly231Val	178642.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	149	cd03589	NULL
729238	148886696	Disease	p.Gly231Val	178642.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	134	cd03601	NULL
729238	148886696	Disease	p.Gly231Val	178642.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	118	cd03602	NULL
729238	148886696	Disease	p.Gly231Val	178642.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	190	cd03603	NULL
729238	148886696	Disease	p.Gly231Val	178642.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	254	cd00037	NULL
729238	148886696	Disease	p.Gly231Val	178642.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	108	cd03598	NULL
729238	148886696	Disease	p.Gly231Val	178642.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	106	cd03592	NULL
729238	148886696	Disease	p.Gly231Val	178642.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	103	cd03591	NULL
729238	148886696	Disease	p.Gly231Val	178642.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	123	pfam00059	NULL
729238	148886696	Disease	p.Gly231Val	178642.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	143	cd03590	NULL
729238	148886696	Disease	p.Gly231Val	178642.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	129	cd03596	NULL
729238	148886696	Disease	p.Gly231Val	178642.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	106	cd03588	NULL
729238	148886696	Disease	p.Gly231Val	178642.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	311	smart00034	NULL
729238	148886696	Disease	p.Phe198Ser	178642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	89	cd03594	NULL
729238	148886696	Disease	p.Phe198Ser	178642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	109	cd03589	NULL
729238	148886696	Disease	p.Phe198Ser	178642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	82	cd03601	NULL
729238	148886696	Disease	p.Phe198Ser	178642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	73	cd03602	NULL
729238	148886696	Disease	p.Phe198Ser	178642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	104	cd03603	NULL
729238	148886696	Disease	p.Phe198Ser	178642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	156	cd00037	NULL
729238	148886696	Disease	p.Phe198Ser	178642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	72	cd03598	NULL
729238	148886696	Disease	p.Phe198Ser	178642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	66	cd03592	NULL
729238	148886696	Disease	p.Phe198Ser	178642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	66	cd03591	NULL
729238	148886696	Disease	p.Phe198Ser	178642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	66	pfam00059	NULL
729238	148886696	Disease	p.Phe198Ser	178642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	85	cd03590	NULL
729238	148886696	Disease	p.Phe198Ser	178642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	75	cd03596	NULL
729238	148886696	Disease	p.Phe198Ser	178642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	69	cd03588	NULL
729238	148886696	Disease	p.Phe198Ser	178642.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178642	PULMONARY FIBROSIS, IDIOPATHIC	OMIM	225	smart00034	NULL
6439	288856297	Disease	p.Arg236Cys	178640.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178640	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1	OMIM	20	smart00741	NULL
6439	288856299	Disease	p.Arg236Cys	178640.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178640	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1	OMIM	20	smart00741	NULL
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	112	cd03594	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	131	cd03589	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	106	cd03601	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	102	cd03602	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	158	cd03603	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	220	cd00037	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	94	cd03598	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	88	cd03592	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	89	cd03591	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	95	pfam00059	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	115	cd03590	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	115	cd03596	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	94_G	cd03588	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	276	smart00034	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	257467606	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	76	pfam00059	NULL
653509	257467606	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	79	cd03602	NULL
653509	257467606	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	110	cd03603	NULL
653509	257467606	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	162	cd00037	NULL
653509	257467606	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	91	cd03590	NULL
653509	257467606	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	81	cd03596	NULL
653509	257467606	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	88	cd03601	NULL
653509	257467606	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	95	cd03594	NULL
653509	257467606	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	115	cd03589	NULL
653509	257467606	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	232	smart00034	NULL
653509	257467606	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	78	cd03598	NULL
653509	257467606	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	72	cd03592	NULL
653509	257467606	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	72	cd03591	NULL
653509	257467606	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	75	cd03588	NULL
653509	257467610	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
653509	257467612	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	112	cd03594	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	131	cd03589	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	106	cd03601	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	102	cd03602	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	158	cd03603	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	220	cd00037	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	94	cd03598	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	88	cd03592	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	89	cd03591	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	95	pfam00059	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	115	cd03590	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	115	cd03596	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	94_G	cd03588	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	276	smart00034	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	112	cd03594	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	131	cd03589	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	106	cd03601	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	102	cd03602	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	158	cd03603	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	220	cd00037	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	94	cd03598	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	88	cd03592	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	89	cd03591	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	95	pfam00059	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	115	cd03590	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	115	cd03596	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	94_G	cd03588	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
653509	60416440	Disease	p.Arg219Trp	178630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178630	PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO	OMIM	276	smart00034	257467608,NP_001158116|38888175,NP_005402|257467615,NP_001158119
6440	288915543	Disease	p.Ile73Thr	178620.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	73	smart00019	NULL
6440	288915543	Disease	p.Ile73Thr	178620.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	73	pfam08999	NULL
6440	149999608	Disease	p.Ile73Thr	178620.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	73	smart00019	NULL
6440	149999608	Disease	p.Ile73Thr	178620.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	73	pfam08999	NULL
6440	288915521	Disease	p.Ile73Thr	178620.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	73	smart00019	NULL
6440	288915521	Disease	p.Ile73Thr	178620.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	73	pfam08999	NULL
6440	288915543	Disease	p.Arg167Gln	178620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	175	smart00019	NULL
6440	288915543	Disease	p.Arg167Gln	178620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	82	pfam04089	NULL
6440	149999608	Disease	p.Arg167Gln	178620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	167	smart00019	NULL
6440	149999608	Disease	p.Arg167Gln	178620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	74	pfam04089	NULL
6440	288915521	Disease	p.Arg167Gln	178620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	167	smart00019	NULL
6440	288915521	Disease	p.Arg167Gln	178620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	74	pfam04089	NULL
6440	288915543	Disease	p.Leu188Gln	178620.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	196	smart00019	NULL
6440	288915543	Disease	p.Leu188Gln	178620.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	105	pfam04089	NULL
6440	149999608	Disease	p.Leu188Gln	178620.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	190	smart00019	NULL
6440	149999608	Disease	p.Leu188Gln	178620.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	99	pfam04089	NULL
6440	288915521	Disease	p.Leu188Gln	178620.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	190	smart00019	NULL
6440	288915521	Disease	p.Leu188Gln	178620.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	99	pfam04089	NULL
6440	288915543	Disease	p.Ala116Asp	178620.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	116	smart00019	NULL
6440	288915543	Disease	p.Ala116Asp	178620.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	23	pfam04089	NULL
6440	149999608	Disease	p.Ala116Asp	178620.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	116	smart00019	NULL
6440	149999608	Disease	p.Ala116Asp	178620.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	23	pfam04089	NULL
6440	288915521	Disease	p.Ala116Asp	178620.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	116	smart00019	NULL
6440	288915521	Disease	p.Ala116Asp	178620.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	23	pfam04089	NULL
6440	288915543	Disease	p.Glu66Lys	178620.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	66	smart00019	NULL
6440	288915543	Disease	p.Glu66Lys	178620.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	66	pfam08999	NULL
6440	149999608	Disease	p.Glu66Lys	178620.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	66	smart00019	NULL
6440	149999608	Disease	p.Glu66Lys	178620.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	66	pfam08999	NULL
6440	288915521	Disease	p.Glu66Lys	178620.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	66	smart00019	NULL
6440	288915521	Disease	p.Glu66Lys	178620.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	66	pfam08999	NULL
6440	288915543	Disease	p.Leu194Pro	178620.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	No Domain	N/A	NULL
6440	149999608	Disease	p.Leu194Pro	178620.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	196	smart00019	NULL
6440	149999608	Disease	p.Leu194Pro	178620.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	105	pfam04089	NULL
6440	288915521	Disease	p.Leu194Pro	178620.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	196	smart00019	NULL
6440	288915521	Disease	p.Leu194Pro	178620.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=178620	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	OMIM	105	pfam04089	NULL
590	116353	Disease	p.Asp70Gly	177400.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	APNEA, POSTANESTHETIC, DUE TO BCHE, ATYPICAL-1||BCHE, DIBUCAINE-RESISTANT I, CHE*70G, BCHE*70G	OMIM	41	cd00312	4557351,NP_000046
590	116353	Disease	p.Asp70Gly	177400.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	APNEA, POSTANESTHETIC, DUE TO BCHE, ATYPICAL-1||BCHE, DIBUCAINE-RESISTANT I, CHE*70G, BCHE*70G	OMIM	54	COG2272	4557351,NP_000046
590	116353	Disease	p.Asp70Gly	177400.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	APNEA, POSTANESTHETIC, DUE TO BCHE, ATYPICAL-1||BCHE, DIBUCAINE-RESISTANT I, CHE*70G, BCHE*70G	OMIM	73	pfam00135	4557351,NP_000046
590	116353	Disease	p.Thr243Met	177400.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BCHE, FLUORIDE 1||BCHE, FLUORIDE-RESISTANT I, CHE*243M, BCHE*243M	OMIM	264	cd00312	4557351,NP_000046
590	116353	Disease	p.Thr243Met	177400.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BCHE, FLUORIDE 1||BCHE, FLUORIDE-RESISTANT I, CHE*243M, BCHE*243M	OMIM	246	COG2272	4557351,NP_000046
590	116353	Disease	p.Thr243Met	177400.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BCHE, FLUORIDE 1||BCHE, FLUORIDE-RESISTANT I, CHE*243M, BCHE*243M	OMIM	383	pfam00135	4557351,NP_000046
590	116353	Disease	p.Gly390Val	177400.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BCHE, FLUORIDE 2||BCHE, FLUORIDE-RESISTANT II, CHE*390V, BCHE*390V	OMIM	440	cd00312	4557351,NP_000046
590	116353	Disease	p.Gly390Val	177400.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BCHE, FLUORIDE 2||BCHE, FLUORIDE-RESISTANT II, CHE*390V, BCHE*390V	OMIM	390	COG2272	4557351,NP_000046
590	116353	Disease	p.Gly390Val	177400.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BCHE, FLUORIDE 2||BCHE, FLUORIDE-RESISTANT II, CHE*390V, BCHE*390V	OMIM	666	pfam00135	4557351,NP_000046
590	116353	Disease	p.Ala539Thr	177400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BCHE, K VARIANT||BCHE, QUANTITATIVE K POLYMORPHISM, CHE*539T, BCHE*539T	OMIM	631	cd00312	4557351,NP_000046
590	116353	Disease	p.Ala539Thr	177400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BCHE, K VARIANT||BCHE, QUANTITATIVE K POLYMORPHISM, CHE*539T, BCHE*539T	OMIM	565	COG2272	4557351,NP_000046
590	116353	Disease	p.Ala539Thr	177400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BCHE, K VARIANT||BCHE, QUANTITATIVE K POLYMORPHISM, CHE*539T, BCHE*539T	OMIM	899	pfam00135	4557351,NP_000046
590	116353	Disease	p.Glu497Val	177400.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BCHE, J VARIANT||BCHE, QUANTITATIVE J VARIANT	OMIM	581	cd00312	4557351,NP_000046
590	116353	Disease	p.Glu497Val	177400.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BCHE, J VARIANT||BCHE, QUANTITATIVE J VARIANT	OMIM	518	COG2272	4557351,NP_000046
590	116353	Disease	p.Glu497Val	177400.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BCHE, J VARIANT||BCHE, QUANTITATIVE J VARIANT	OMIM	820	pfam00135	4557351,NP_000046
79742	193804856	Disease	p.Glu497Val	177400.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BCHE, H VARIANT||BCHE, QUANTITATIVE H VARIANT	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Glu497Val	177400.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BCHE, H VARIANT||BCHE, QUANTITATIVE H VARIANT	OMIM	No Domain	N/A	193804854,NP_789789
79742	193804856	Disease	p.Glu497Val	177400.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BCHE NEWFOUNDLAND	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Glu497Val	177400.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BCHE NEWFOUNDLAND	OMIM	No Domain	N/A	193804854,NP_789789
79742	193804856	Disease	p.Glu497Val	177400.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BCHE CYNTHIANA	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Glu497Val	177400.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BCHE CYNTHIANA	OMIM	No Domain	N/A	193804854,NP_789789
79742	193804856	Disease	p.Glu497Val	177400.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BCHE JOHANNESBURG	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Glu497Val	177400.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BCHE JOHANNESBURG	OMIM	No Domain	N/A	193804854,NP_789789
590	116353	Disease	p.Leu330Ile	177400.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BUTYRYLCHOLINESTERASE DEFICIENCY, FLUORIDE-RESISTANT, JAPANESE TYPE	OMIM	373	cd00312	4557351,NP_000046
590	116353	Disease	p.Leu330Ile	177400.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BUTYRYLCHOLINESTERASE DEFICIENCY, FLUORIDE-RESISTANT, JAPANESE TYPE	OMIM	339	COG2272	4557351,NP_000046
590	116353	Disease	p.Leu330Ile	177400.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BUTYRYLCHOLINESTERASE DEFICIENCY, FLUORIDE-RESISTANT, JAPANESE TYPE	OMIM	558	pfam00135	4557351,NP_000046
590	116353	Disease	p.Tyr128Cys	177400.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BUTYRYLCHOLINESTERASE DEFICIENCY	OMIM	120	cd00312	4557351,NP_000046
590	116353	Disease	p.Tyr128Cys	177400.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BUTYRYLCHOLINESTERASE DEFICIENCY	OMIM	110	COG2272	4557351,NP_000046
590	116353	Disease	p.Tyr128Cys	177400.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BUTYRYLCHOLINESTERASE DEFICIENCY	OMIM	176	pfam00135	4557351,NP_000046
590	116353	Disease	p.Leu335Pro	177400.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BUTYRYLCHOLINESTERASE DEFICIENCY	OMIM	378	cd00312	4557351,NP_000046
590	116353	Disease	p.Leu335Pro	177400.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BUTYRYLCHOLINESTERASE DEFICIENCY	OMIM	344	COG2272	4557351,NP_000046
590	116353	Disease	p.Leu335Pro	177400.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400	BUTYRYLCHOLINESTERASE DEFICIENCY	OMIM	569	pfam00135	4557351,NP_000046
4094	223590080	Disease	p.Arg288Pro	177075.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177075	CATARACT, PULVERULENT, JUVENILE-ONSET	OMIM	32	pfam03131	73427806,NP_001026974
4094	223590080	Disease	p.Arg288Pro	177075.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177075	CATARACT, PULVERULENT, JUVENILE-ONSET	OMIM	5	smart00338	73427806,NP_001026974
4094	5453736	Disease	p.Arg288Pro	177075.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177075	CATARACT, PULVERULENT, JUVENILE-ONSET	OMIM	32	pfam03131	NULL
4094	5453736	Disease	p.Arg288Pro	177075.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177075	CATARACT, PULVERULENT, JUVENILE-ONSET	OMIM	5	smart00338	NULL
4094	223590080	Disease	p.Lys297Arg	177075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177075	CATARACT, CONGENITAL, CERULEAN TYPE, 4	OMIM	41	pfam03131	73427806,NP_001026974
4094	223590080	Disease	p.Lys297Arg	177075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177075	CATARACT, CONGENITAL, CERULEAN TYPE, 4	OMIM	24	smart00338	73427806,NP_001026974
4094	5453736	Disease	p.Lys297Arg	177075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177075	CATARACT, CONGENITAL, CERULEAN TYPE, 4	OMIM	41	pfam03131	NULL
4094	5453736	Disease	p.Lys297Arg	177075.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177075	CATARACT, CONGENITAL, CERULEAN TYPE, 4	OMIM	24	smart00338	NULL
2038	166362735	Disease	p.Ala142Thr	177070.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177070	SPHEROCYTOSIS, TYPE 5, DUE TO PROTEIN 4.2-NIPPON	OMIM	147	pfam00868	NULL
2038	215274164	Disease	p.Ala142Thr	177070.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177070	SPHEROCYTOSIS, TYPE 5, DUE TO PROTEIN 4.2-NIPPON	OMIM	No Domain	N/A	166362737,NP_001107606
2038	166362735	Disease	p.Arg310Gln	177070.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177070	SPHEROCYTOSIS, TYPE 5, DUE TO PROTEIN 4.2-TOZEUR	OMIM	101	pfam01841	NULL
2038	166362735	Disease	p.Arg310Gln	177070.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177070	SPHEROCYTOSIS, TYPE 5, DUE TO PROTEIN 4.2-TOZEUR	OMIM	21	smart00460	NULL
2038	215274164	Disease	p.Arg310Gln	177070.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177070	SPHEROCYTOSIS, TYPE 5, DUE TO PROTEIN 4.2-TOZEUR	OMIM	182	pfam01841	166362737,NP_001107606
2038	215274164	Disease	p.Arg310Gln	177070.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177070	SPHEROCYTOSIS, TYPE 5, DUE TO PROTEIN 4.2-TOZEUR	OMIM	51	smart00460	166362737,NP_001107606
5582	462455	Disease	p.His101Tyr	176980.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	No Domain	N/A	13384594,NP_002730
5582	462455	Disease	p.Ser119Pro	176980.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	26	pfam00130	13384594,NP_002730
5582	462455	Disease	p.Ser119Pro	176980.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	29	smart00109	13384594,NP_002730
5582	462455	Disease	p.Ser119Pro	176980.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	25	cd00029	13384594,NP_002730
5582	462455	Disease	p.Gly128Asp	176980.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	46	pfam00130	13384594,NP_002730
5582	462455	Disease	p.Gly128Asp	176980.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	72	smart00109	13384594,NP_002730
5582	462455	Disease	p.Gly128Asp	176980.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	40	cd00029	13384594,NP_002730
5582	462455	Disease	p.Gly118Asp	176980.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	25	pfam00130	13384594,NP_002730
5582	462455	Disease	p.Gly118Asp	176980.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	28	smart00109	13384594,NP_002730
5582	462455	Disease	p.Gly118Asp	176980.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	24	cd00029	13384594,NP_002730
5582	462455	Disease	p.Gln127Arg	176980.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	45	pfam00130	13384594,NP_002730
5582	462455	Disease	p.Gln127Arg	176980.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	69	smart00109	13384594,NP_002730
5582	462455	Disease	p.Gln127Arg	176980.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	39	cd00029	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	304	cd05108	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	295	cd07858	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	328	cd05100	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	302	cd06607	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	286	cd07856	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	316	cd07880	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	313	cd07835	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	292	cd05589	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	337	cd05622	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	298	cd06634	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	279	cd07870	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	306	cd06635	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	275	cd06650	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	346	cd07851	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	355	cd07855	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	277	cd06649	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	11	pfam00433	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	315	cd05094	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	294	cd07844	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	287	cd05582	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	293	cd05584	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	1285	COG0515	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	279	cd06615	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	389	cd05580	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	509	cd05599	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	360	cd05629	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	299	cd05623	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	387	cd05600	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	288	cd05612	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	302	cd05597	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	299	cd05624	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	479	cd05573	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	303	cd05601	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	324	cd05627	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	337	cd05626	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	357	cd05598	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	338	cd05625	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	328	cd05609	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	299	cd07847	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	324	cd05628	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	303	cd07872	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	285	cd05594	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	298	cd05570	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	286	cd05575	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	284	cd05593	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	293	cd05617	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	298	cd05588	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	284	cd05603	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	287	cd05590	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	295	cd05618	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	288	cd05591	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	296	cd05620	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	284	cd05595	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	285	cd05571	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	281	cd05619	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	301	cd05592	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	284	cd05604	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	284	cd05602	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	43	smart00133	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	293	cd07859	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	332	cd07841	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	292	cd07836	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	290	cd07861	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	298	cd05587	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	290	cd05616	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	289	cd05615	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	509	cd07834	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	300	cd05614	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	286	cd05586	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	281	cd05585	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	320	cd07850	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	337	cd05621	13384594,NP_002730
5582	462455	Disease	p.Phe643Leu	176980.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	338	cd05596	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	19	cd05108	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	19	cd05043	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd05072	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd05073	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	16	cd05113	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	16	cd05080	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	16	cd05112	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	19	cd05111	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	19	cd05109	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd06620	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd05070	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	30	cd05057	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd06643	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd05036	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	20	cd05032	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd05083	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd05039	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd07858	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	24	cd05053	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	16	cd05059	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	16	cd05065	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	16	cd05033	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	16	cd05114	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	16	cd06616	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd07849	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd05069	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd05067	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	32	cd06614	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	28	cd06636	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	24	cd05100	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	27	cd05101	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	27	cd06607	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	24	cd05099	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	30	cd06638	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd06629	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	22	cd07856	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	27	cd07880	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	21	cd07866	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	16	cd05081	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	11	cd05074	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	11	cd07835	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	11	cd05035	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	15	pfam07714	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	11	cd05589	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	11	pfam00069	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	11	cd05118	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	11	smart00221	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	11	smart00219	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	15	cd07840	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	11	cd07830	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd07833	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	11	cd07831	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	11	cd07838	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd07829	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	55	cd05622	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	34	cd06658	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	32	cd06657	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	34	cd06639	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	27	cd06634	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	24	cd07865	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	24	cd06644	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd07870	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	37	cd06635	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	14	cd08224	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	14	cd08229	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	14	cd05089	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd07843	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	14	cd08228	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	21	cd06646	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	21	cd06645	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd05061	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd05056	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd06650	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	31	cd06648	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	27	cd07851	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd05095	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd05082	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd05049	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd05097	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd05046	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd05050	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd05071	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd05063	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd05048	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	34	cd07855	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd06649	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd05052	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	20	cd06624	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd05068	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd05090	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd05062	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	33	cd06659	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	16	cd06640	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	16	cd06641	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	16	cd06642	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd05094	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd07844	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd05093	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd05092	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	8	cd05611	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	8	cd05582	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	8	cd05584	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd06626	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	54	COG0515	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd07862	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd06619	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	15	cd06613	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd07848	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd06615	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd05580	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd05599	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd05629	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd05034	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd06621	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd06917	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	14	cd06609	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd05038	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd05148	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	14	cd06653	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd05623	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd05600	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd05612	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd07837	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	14	cd06652	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd06622	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	16	cd05574	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd05597	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd05624	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd05573	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd05601	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd06610	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd07846	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	20	cd05581	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	15	cd06612	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd05627	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd05626	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd05598	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd05625	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd06617	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd06605	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd06623	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd07854	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	32	cd06654	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd05609	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd07847	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd05628	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	27	cd06618	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	19	cd07845	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd07871	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd07873	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	19	cd05088	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	19	cd07864	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd06637	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd07872	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05116	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05115	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05087	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05044	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05041	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd00192	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd06630	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05594	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05570	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05575	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05040	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd06628	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05593	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05058	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05617	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05588	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05603	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05590	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05618	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05591	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05085	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05620	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05595	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05571	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05619	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05592	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05604	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05602	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd08223	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd07859	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd07857	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd07841	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd07836	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd07861	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd07860	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd07863	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	19	cd05122	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd08225	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd07832	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd08219	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd07842	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	13	cd06627	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	18	cd06608	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd07839	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd08222	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	19	cd06606	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd08218	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd05578	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd08220	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd05587	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd05616	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd05615	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd05632	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd05631	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd05630	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd05605	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	14	cd07834	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd08215	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd05583	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd05613	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd08530	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd08217	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd08529	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd05614	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd08528	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	14	cd06651	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	30	cd05098	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	14	cd06625	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05047	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	6	cd05633	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd08221	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	6	cd05606	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd06631	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	12	cd06632	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05042	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	5	cd05572	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	5	cd05586	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	5	cd05585	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	5	cd05123	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	17	cd06611	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	5	cd05579	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	5	cd00180	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	5	cd05608	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	5	cd05577	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	5	cd05607	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05060	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	7	cd05084	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	28	cd07850	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	31	cd06655	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	31	cd06647	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	31	cd06656	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	55	cd05621	13384594,NP_002730
5582	462455	Disease	p.Ser361Gly	176980.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	55	cd05596	13384594,NP_002730
5582	462455	Disease	p.His101Gln	176980.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176980	SPINOCEREBELLAR ATAXIA 14	OMIM	No Domain	N/A	13384594,NP_002730
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	195	cd06648	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	244	cd05057	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	179	cd08219	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	202	cd08528	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	181	cd08225	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	205	cd05091	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	205	cd05090	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	208	cd05048	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	193	cd05034	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	268	cd07834	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	186	cd08224	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	187	cd07847	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	200	cd05613	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	179	cd06615	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	190	cd05065	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	188	cd05583	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	224	cd06627	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	266	cd05046	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	213	cd05049	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	190	cd05109	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	200	cd07864	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	211	cd05094	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	202	cd05088	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	190	cd05081	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	201	cd05093	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	184	cd07872	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	197	cd06616	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	200	cd07871	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	189	cd05080	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	184	cd07844	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	203	cd05092	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	190	cd05111	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	184	cd07873	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	194	cd06644	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	190	cd05110	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	194	cd06655	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	194	cd06656	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	320	cd05055	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	193	cd06607	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	199	cd06618	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	195	cd06654	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	233	cd06614	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	833	smart00221	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	185	cd08222	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	180	cd08218	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	180	cd07860	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	183	cd07836	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	568	smart00219	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	376	pfam07714	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	331	pfam00069	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	182	cd05059	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	204	cd05035	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	208	cd05075	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	194	cd05074	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	195	cd06624	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	261	cd05103	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	188	cd06651	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	259	cd05102	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	188	cd06653	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	180	cd05615	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	190	cd05063	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	251	cd05051	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	181	cd06649	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	203	cd06610	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	195	cd06637	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	201	cd05076	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	185	cd08529	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	185	cd05039	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	182	cd07861	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	207	cd07835	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	217	cd07841	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	205	cd06636	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	196	cd06659	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	310	cd05054	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	182	cd07846	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	761	smart00220	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	190	cd05578	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	305	cd05104	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	321	cd05105	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	221	cd05098	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	254	cd05574	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	193	cd05087	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	175	cd05084	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	187	cd08530	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	248	cd08215	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	430	cd05581	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	252	cd08217	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	186	cd05078	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	188	cd05077	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	185	cd05148	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	188	cd05086	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	192	cd05118	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	279	cd07840	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	239	cd07833	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	297	cd07830	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	293	cd07838	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	195	cd06629	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	192	cd05040	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	177	cd05041	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	193	cd06917	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	177	cd05116	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	192	cd05042	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	177	cd05115	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	184	cd05060	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	210	cd05037	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	417	cd00192	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	191	cd05079	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	176	cd05083	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	190	cd05108	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	226	cd05043	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	218	cd05056	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	203	cd07845	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	208	cd06638	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	219	cd06639	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	190	cd05047	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	325	cd06606	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	234	cd07829	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	180	cd05631	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	180	cd05632	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	180	cd05605	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	198	cd05044	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	183	cd08221	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	174	cd05085	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	176	cd05608	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	174	cd05607	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	189	cd08220	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	223	cd06626	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	250	cd05572	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	191	cd05592	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	664	cd00180	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	791	cd05123	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	189	cd06625	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	186	cd07831	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	183	cd05584	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	180	cd05589	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	175	cd05619	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	177	cd05582	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	177	cd05570	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	202	cd07832	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	188	cd05058	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	723	cd05579	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	199	cd06612	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	188	cd06630	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	205	cd06632	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	189	cd06631	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	180	cd05577	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	303	cd05106	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	231	cd05053	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	215	cd05099	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	215	cd05100	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	222	cd05095	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	214	cd05050	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	248	cd05096	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	203	cd05036	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	212	cd05097	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	200	cd05062	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	245	cd05032	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	187	cd06643	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	180	cd05112	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	180	cd05114	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	181	cd05113	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	188	cd05066	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	182	cd05070	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	224	cd05033	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	188	cd05064	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	188	cd06645	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	184	cd05052	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	217	cd05038	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	182	cd05069	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	181	cd06650	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	185	cd06620	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	201	cd05061	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	188	cd05068	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	182	cd05067	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	183	cd05073	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	183	cd05072	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	178	cd05082	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	188	cd06613	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	183	cd07870	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	182	cd05071	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	203	cd06635	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	185	cd08229	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	208	cd05045	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	195	cd06628	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	224	cd05122	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	193	cd06634	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	180	cd06641	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	180	cd06642	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	218	cd05101	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	210	cd07865	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	180	cd06640	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	323	cd05107	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	185	cd08228	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	238	cd06623	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	187	cd06617	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	324	cd05573	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	197	cd05089	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	287	cd05580	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	188	cd06621	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	177	cd05612	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	193	cd06619	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	203	cd06605	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	193_G	cd05601	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	181	cd08223	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	210	cd06609	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	204	cd06622	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	199	cd07837	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	184	cd06611	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	179	cd07839	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	232	cd06608	31455611,NP_001070
7535	46488944	Disease	p.Ser518Arg	176947.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	No Domain	N/A	NULL
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	145	cd06648	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	191	cd05057	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	129	cd08219	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	152	cd08528	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	130	cd08225	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	153	cd05091	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	153	cd05090	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	156	cd05048	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	132	cd05034	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	172	cd07834	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	136	cd08224	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	135	cd07847	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	147	cd05613	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	131	cd06615	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	135	cd05065	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	134	cd05583	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	136	cd06627	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	215	cd05046	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	156	cd05049	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	138	cd05109	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	147	cd07864	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	152	cd05094	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	153	cd05088	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	137	cd05081	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	149	cd05093	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	133	cd07872	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	144	cd06616	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	132	cd07871	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	136	cd05080	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	133	cd07844	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	151	cd05092	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	138	cd05111	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	133	cd07873	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	139	cd06644	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	138	cd05110	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	144	cd06655	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	144	cd06656	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	268	cd05055	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	144	cd06607	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	148	cd06618	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	145	cd06654	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	181	cd06614	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	541	smart00221	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	136	cd08222	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	130	cd08218	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	129	cd07860	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	132	cd07836	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	426	smart00219	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	285	pfam07714	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	220	pfam00069	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	131	cd05059	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	152	cd05035	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	156	cd05075	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	142	cd05074	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	142	cd06624	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	209	cd05103	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	135	cd06651	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	207	cd05102	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	135	cd06653	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	130	cd05615	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	137	cd05063	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	190	cd05051	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	133	cd06649	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	141	cd06610	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	140	cd06637	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	146	cd05076	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	135	cd08529	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	135	cd05039	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	131	cd07861	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	155	cd07835	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	146	cd07841	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	150	cd06636	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	146	cd06659	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	257	cd05054	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	130	cd07846	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	431	smart00220	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	130	cd05578	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	253	cd05104	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	269	cd05105	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	169	cd05098	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	152	cd05574	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	134	cd05087	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	123	cd05084	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	135	cd08530	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	172	cd08215	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	245	cd05581	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	161	cd08217	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	131	cd05078	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	134	cd05077	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	134	cd05148	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	129	cd05086	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	138	cd05118	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	178	cd07840	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	151	cd07833	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	181	cd07830	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	155	cd07838	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	139	cd06629	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	133	cd05040	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	125	cd05041	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	139	cd06917	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	124	cd05116	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	132	cd05042	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	124	cd05115	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	131	cd05060	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	148	cd05037	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	338	cd00192	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	138	cd05079	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	129	cd05083	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	138	cd05108	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	171	cd05043	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	165	cd05056	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	150	cd07845	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	153	cd06638	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	164	cd06639	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	141	cd05047	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	210	cd06606	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	169	cd07829	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	131	cd05631	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	131	cd05632	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	131	cd05605	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	139	cd05044	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	131	cd08221	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	123	cd05085	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	126	cd05608	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	124	cd05607	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	139	cd08220	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	131	cd06626	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	197	cd05572	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	140	cd05592	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	370	cd00180	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	645	cd05123	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	135	cd06625	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	130	cd07831	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	133	cd05584	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	130	cd05589	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	125	cd05619	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	127	cd05582	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	127	cd05570	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	144	cd07832	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	134	cd05058	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	125	cd05579	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	144	cd06612	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	132	cd06630	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	148	cd06632	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	133	cd06631	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	129	cd05577	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	251	cd05106	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	179	cd05053	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	163	cd05099	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	163	cd05100	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	170	cd05095	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	162	cd05050	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	185	cd05096	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	147	cd05036	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	160	cd05097	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	148	cd05062	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	193	cd05032	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	132	cd06643	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	129	cd05112	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	129	cd05114	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	130	cd05113	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	135	cd05066	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	131	cd05070	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	167	cd05033	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	136	cd05064	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	135	cd06645	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	133	cd05052	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	157	cd05038	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	131	cd05069	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	133	cd06650	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	135	cd06620	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	149	cd05061	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	134	cd05068	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	131	cd05067	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	132	cd05073	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	132	cd05072	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	131	cd05082	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	132	cd06613	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	132	cd07870	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	131	cd05071	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	154	cd06635	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	135	cd08229	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	156	cd05045	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	137	cd06628	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	163	cd05122	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	144	cd06634	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	130	cd06641	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	130	cd06642	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	166	cd05101	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	153	cd07865	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	130	cd06640	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	271	cd05107	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	135	cd08228	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	177	cd06623	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	134	cd06617	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	186	cd05573	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	148	cd05089	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	183	cd05580	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	139	cd06621	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	130	cd05612	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	145	cd06619	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	147	cd06605	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	131	cd05601	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	131	cd08223	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	152	cd06609	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	144	cd06622	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	147	cd07837	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	134	cd06611	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	128	cd07839	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	172	cd06608	31455611,NP_001070
7535	46488944	Disease	p.Arg465His	176947.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176947	SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO||SCID DUE TO ZAP70 DEFICIENCY	OMIM	No Domain	N/A	NULL
1969	229462861	Disease	p.Gly948Trp	176946.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	342	cd07880	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	176946.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	1381	COG0515	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	176946.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	60	pfam07647	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	176946.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	72	smart00454	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	176946.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	336	cd07859	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	176946.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	381	cd07853	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	176946.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	58	pfam00536	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	176946.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	306_G	cd05591	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	176946.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	331	cd07858	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	176946.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	344_G	cd05586	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	176946.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	62	cd00166	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	176946.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	334	cd07880	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	176946.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	326	cd07856	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	176946.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	1373	COG0515	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	176946.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	49	pfam07647	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	176946.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	61	smart00454	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	176946.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	324	cd05587	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	176946.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	328	cd07859	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	176946.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	365	cd07853	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	176946.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	47	pfam00536	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	176946.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	302	cd05591	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	176946.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	353	cd07876	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	176946.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	321	cd07858	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	176946.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	337	cd05586	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	176946.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, POSTERIOR POLAR, 1	OMIM	52	cd00166	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	123	cd06657	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	131	cd07850	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	144	cd05101	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	124	cd06659	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	128	cd06633	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	111	cd07872	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	141	cd05100	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	113	cd06646	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	124	cd05076	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	131	cd07865	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	129	cd07880	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	122	cd06656	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	145	cd07851	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	247	cd05105	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	249	cd05107	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	108	cd05578	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	110	cd06613	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	111	cd05584	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	109	cd05601	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	114	cd08222	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	129	cd07833	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	114	cd06627	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	105	cd05582	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	113	cd08530	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	119	cd06610	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	114	cd08224	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	111	cd07844	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	110	cd07870	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	125	cd07864	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	123	cd06648	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	122	cd07832	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	112	cd07846	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	138	cd07866	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	105	cd05606	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	107	cd07860	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	128	cd07841	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	147	cd07829	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	120_G	cd08220	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	116	cd05118	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	159	cd07830	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	106	cd07839	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	112	cd05148	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	111	cd06631	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	110	cd06630	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	145	cd08215	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	109	cd08221	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	125	cd07837	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	120	cd06624	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	110	cd06643	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	139	cd07855	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	125	cd06618	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	115	cd07856	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	234	cd05055	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	122	cd06634	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	122	cd06607	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	141	cd05099	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	116	cd05110	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	116	cd05108	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	375	smart00220	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	125	cd07843	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	108	cd06642	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	108	cd06640	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	117	cd06622	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	477	COG0515	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	124_G	cd06619	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	108	cd06615	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	108	cd06641	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	130	cd06609	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	109	cd05609	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	117	cd07862	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	142	cd06623	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	124	cd06605	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	113	cd08228	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	113	cd08229	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	111	cd07873	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	158	cd05580	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	108	cd05612	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	121_G	cd06621	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	107	cd07847	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	110	cd07871	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	117	cd06917	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	111_G	cd06617	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	122	cd06647	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	125	cd06658	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	461	smart00221	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	112	cd05614	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	133	cd07835	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	126	cd05089	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	154	cd07834	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	134	cd05075	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	120	cd05074	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	130	cd05035	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	108	cd05589	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	391	smart00219	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	261	pfam07714	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	187	pfam00069	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	113	cd05587	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	109	cd07861	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	108	cd08218	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	154	cd05102	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	125	cd05103	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	116	cd05111	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	235	cd05054	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	109	cd05605	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	115	cd06628	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	129	cd05092	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	114	cd07859	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	134	cd05045	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	140	cd05122	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	110	cd07836	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	108	cd05615	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	187	cd06606	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	115	cd07853	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	156	cd07840	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	113_G	cd05613	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	131	cd06638	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	157	cd06614	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	168	cd05057	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	126	cd05062	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	148	cd05095	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	140	cd05050	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	193	cd05046	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	168	cd05051	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	171	cd05032	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	163	cd05096	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	134	cd05049	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	138	cd05097	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	113	cd05039	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	127	cd05093	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	130	cd05094	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	118	cd06637	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	115	cd05063	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	114	cd05064	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	111	cd05052	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	110	cd05073	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	109	cd05069	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	131	cd05091	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	109	cd05067	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	131	cd05048	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	109	cd05070	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	110	cd05072	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	109	cd05082	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	112	cd05068	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	110	cd05034	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	128	cd05090	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	112	cd06620	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	127	cd05061	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	109	cd05071	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	157	cd05053	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	112	cd05058	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	102	cd05593	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	223	cd05581	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	126	cd06632	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	112	cd08217	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	115	cd05081	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	116	cd07857	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	103	cd05603	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	103	cd05592	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	117	cd06629	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	102	cd05571	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	103	cd05591	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	105	cd05570	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	137	cd07854	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	103	cd05575	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	112	cd05583	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	109	cd05060	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	102	cd05116	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	108	cd08225	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	119	cd05047	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	129	cd08528	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	103	cd05041	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	112	cd05087	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	101	cd05085	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	110	cd05042	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	101	cd05084	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	107	cd05086	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	111	cd05040	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	117	cd05044	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	130	cd05574	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	150	cd06608	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	112	cd05077	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	314	cd00192	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	109	cd05078	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	126	cd05037	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	102	cd05595	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	103	cd05602	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	103	cd05619	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	113	cd08529	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	102	cd05594	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	107	cd08219	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	113	cd06625	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	113	cd06651	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	113	cd06653	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	122	cd06612	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	128	cd07845	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	109	cd08223	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	137	cd06652	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	229	cd05106	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	128	cd06636	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	147	cd05098	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	142	cd06639	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	113	cd06626	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	123	cd06654	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	134	cd07876	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	122	cd06655	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	121	cd07849	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	116	cd07858	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	125	cd05036	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	143	cd05056	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	131	cd05088	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	132	cd06635	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	112	cd06611	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	100	cd05585	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	108	cd07831	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	133	cd07838	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	121_G	cd06616	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	103	cd05586	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	115	cd07867	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	211	cd07842	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	174	cd05572	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	337	cd00180	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	107	cd05577	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	118	cd07863	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	103	cd05579	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	622	cd05123	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	102	cd05115	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	113	cd05065	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	140	cd05033	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	113	cd05066	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	135	cd05038	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	116	cd05079	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	149	cd05043	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	107	cd05083	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	123	cd07852	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	107	cd05114	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	109	cd05059	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	108	cd05113	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	107	cd05112	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	116	cd05109	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	114	cd05080	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	162	cd05104	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	113	cd06645	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	176946.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176946	CATARACT, AGE-RELATED CORTICAL, 2	OMIM	117	cd06644	32967311,NP_004422
2263	222144231	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	127	cd00096	NULL
2263	222144231	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	57	cd05725	NULL
2263	222144231	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	93	cd05718	NULL
2263	222144231	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	92	cd04974	NULL
2263	222144231	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	75	cd05858	NULL
2263	222144231	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	205	smart00409	NULL
2263	222144231	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	205	smart00410	NULL
2263	222144231	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	114	pfam07686	NULL
2263	222144231	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	97	pfam07679	NULL
2263	222144231	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	122	smart00408	NULL
2263	222144244	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144235	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144233	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	9	cd06635	NULL
2263	222144233	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	5	cd06658	NULL
2263	222144233	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	12	cd05107	NULL
2263	222144233	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	12	cd05105	NULL
2263	222144233	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	10	cd05104	NULL
2263	222144233	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	13	cd05106	NULL
2263	120049	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	125	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	55	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	57	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	65	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	73	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	90	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	90	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	200	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	200	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	112	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	71	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	95	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	120	smart00408	221316639,NP_000132
2263	222144241	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	13	cd06635	NULL
2263	222144241	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	10	cd06658	NULL
2263	222144241	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	4	cd06656	NULL
2263	222144241	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	4	cd06647	NULL
2263	222144241	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	17	cd05105	NULL
2263	222144241	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	15	cd05104	NULL
2263	222144241	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	17	cd05107	NULL
2263	222144241	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	2	cd06614	NULL
2263	222144241	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	2	cd07845	NULL
2263	222144241	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	18	cd05106	NULL
2263	222144241	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	6	cd06659	NULL
2263	222144237	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	16	cd05106	NULL
2263	222144237	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	11_G	cd06635	NULL
2263	222144237	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	4	cd06659	NULL
2263	222144237	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	13	cd05104	NULL
2263	222144237	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	15	cd05105	NULL
2263	222144237	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	15	cd05107	NULL
2263	222144237	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	2	cd06656	NULL
2263	222144237	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	2	cd06647	NULL
2263	222144237	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	8	cd06658	NULL
2263	221316638	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	127	cd00096	NULL
2263	221316638	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	57	cd05725	NULL
2263	221316638	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	93	cd05718	NULL
2263	221316638	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	92	cd04974	NULL
2263	221316638	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	75	cd05858	NULL
2263	221316638	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	205	smart00409	NULL
2263	221316638	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	205	smart00410	NULL
2263	221316638	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	114	pfam07686	NULL
2263	221316638	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	97	pfam07679	NULL
2263	221316638	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	122	smart00408	NULL
2263	222144239	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	5	cd06659	NULL
2263	222144239	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	16	cd05107	NULL
2263	222144239	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	14	cd05104	NULL
2263	222144239	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	16	cd05105	NULL
2263	222144239	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	9	cd06658	NULL
2263	222144239	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	72	cd05858	NULL
2263	222144239	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	86	cd04974	NULL
2263	222144239	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	17	cd05106	NULL
2263	222144239	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	12	cd06635	NULL
2263	222144239	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	3	cd06647	NULL
2263	222144239	Disease	p.Cys342Tyr	176943.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME	OMIM	3	cd06656	NULL
2263	222144231	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	127	cd00096	NULL
2263	222144231	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	57	cd05725	NULL
2263	222144231	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	93	cd05718	NULL
2263	222144231	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	92	cd04974	NULL
2263	222144231	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	75	cd05858	NULL
2263	222144231	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	205	smart00409	NULL
2263	222144231	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	205	smart00410	NULL
2263	222144231	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	114	pfam07686	NULL
2263	222144231	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	97	pfam07679	NULL
2263	222144231	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	122	smart00408	NULL
2263	222144244	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	No Domain	N/A	NULL
2263	222144235	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	No Domain	N/A	NULL
2263	222144233	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	9	cd06635	NULL
2263	222144233	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	5	cd06658	NULL
2263	222144233	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	12	cd05107	NULL
2263	222144233	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	12	cd05105	NULL
2263	222144233	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	10	cd05104	NULL
2263	222144233	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	13	cd05106	NULL
2263	120049	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	125	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	55	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	57	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	65	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	73	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	90	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	90	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	200	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	200	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	112	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	71	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	95	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	120	smart00408	221316639,NP_000132
2263	222144241	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	13	cd06635	NULL
2263	222144241	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	10	cd06658	NULL
2263	222144241	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	4	cd06656	NULL
2263	222144241	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	4	cd06647	NULL
2263	222144241	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	17	cd05105	NULL
2263	222144241	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	15	cd05104	NULL
2263	222144241	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	17	cd05107	NULL
2263	222144241	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	2	cd06614	NULL
2263	222144241	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	2	cd07845	NULL
2263	222144241	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	18	cd05106	NULL
2263	222144241	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	6	cd06659	NULL
2263	222144237	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	16	cd05106	NULL
2263	222144237	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	11_G	cd06635	NULL
2263	222144237	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	4	cd06659	NULL
2263	222144237	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	13	cd05104	NULL
2263	222144237	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	15	cd05105	NULL
2263	222144237	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	15	cd05107	NULL
2263	222144237	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	2	cd06656	NULL
2263	222144237	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	2	cd06647	NULL
2263	222144237	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	8	cd06658	NULL
2263	221316638	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	127	cd00096	NULL
2263	221316638	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	57	cd05725	NULL
2263	221316638	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	93	cd05718	NULL
2263	221316638	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	92	cd04974	NULL
2263	221316638	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	75	cd05858	NULL
2263	221316638	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	205	smart00409	NULL
2263	221316638	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	205	smart00410	NULL
2263	221316638	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	114	pfam07686	NULL
2263	221316638	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	97	pfam07679	NULL
2263	221316638	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	122	smart00408	NULL
2263	222144239	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	5	cd06659	NULL
2263	222144239	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	16	cd05107	NULL
2263	222144239	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	14	cd05104	NULL
2263	222144239	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	16	cd05105	NULL
2263	222144239	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	9	cd06658	NULL
2263	222144239	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	72	cd05858	NULL
2263	222144239	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	86	cd04974	NULL
2263	222144239	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	17	cd05106	NULL
2263	222144239	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	12	cd06635	NULL
2263	222144239	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	3	cd06647	NULL
2263	222144239	Disease	p.Cys342Arg	176943.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	3	cd06656	NULL
2263	222144231	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	127	cd00096	NULL
2263	222144231	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	57	cd05725	NULL
2263	222144231	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	93	cd05718	NULL
2263	222144231	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	92	cd04974	NULL
2263	222144231	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	75	cd05858	NULL
2263	222144231	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	205	smart00409	NULL
2263	222144231	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	205	smart00410	NULL
2263	222144231	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	114	pfam07686	NULL
2263	222144231	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	97	pfam07679	NULL
2263	222144231	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	122	smart00408	NULL
2263	222144244	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	No Domain	N/A	NULL
2263	222144235	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	No Domain	N/A	NULL
2263	222144233	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	9	cd06635	NULL
2263	222144233	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	5	cd06658	NULL
2263	222144233	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	12	cd05107	NULL
2263	222144233	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	12	cd05105	NULL
2263	222144233	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	10	cd05104	NULL
2263	222144233	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	13	cd05106	NULL
2263	120049	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	125	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	55	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	57	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	65	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	73	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	90	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	90	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	200	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	200	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	112	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	71	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	95	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	120	smart00408	221316639,NP_000132
2263	222144241	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	13	cd06635	NULL
2263	222144241	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	10	cd06658	NULL
2263	222144241	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	4	cd06656	NULL
2263	222144241	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	4	cd06647	NULL
2263	222144241	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	17	cd05105	NULL
2263	222144241	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	15	cd05104	NULL
2263	222144241	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	17	cd05107	NULL
2263	222144241	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	2	cd06614	NULL
2263	222144241	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	2	cd07845	NULL
2263	222144241	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	18	cd05106	NULL
2263	222144241	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	6	cd06659	NULL
2263	222144237	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	16	cd05106	NULL
2263	222144237	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	11_G	cd06635	NULL
2263	222144237	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	4	cd06659	NULL
2263	222144237	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	13	cd05104	NULL
2263	222144237	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	15	cd05105	NULL
2263	222144237	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	15	cd05107	NULL
2263	222144237	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	2	cd06656	NULL
2263	222144237	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	2	cd06647	NULL
2263	222144237	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	8	cd06658	NULL
2263	221316638	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	127	cd00096	NULL
2263	221316638	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	57	cd05725	NULL
2263	221316638	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	93	cd05718	NULL
2263	221316638	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	92	cd04974	NULL
2263	221316638	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	75	cd05858	NULL
2263	221316638	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	205	smart00409	NULL
2263	221316638	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	205	smart00410	NULL
2263	221316638	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	114	pfam07686	NULL
2263	221316638	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	97	pfam07679	NULL
2263	221316638	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	122	smart00408	NULL
2263	222144239	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	5	cd06659	NULL
2263	222144239	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	16	cd05107	NULL
2263	222144239	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	14	cd05104	NULL
2263	222144239	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	16	cd05105	NULL
2263	222144239	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	9	cd06658	NULL
2263	222144239	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	72	cd05858	NULL
2263	222144239	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	86	cd04974	NULL
2263	222144239	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	17	cd05106	NULL
2263	222144239	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	12	cd06635	NULL
2263	222144239	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	3	cd06647	NULL
2263	222144239	Disease	p.Cys342Ser	176943.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	3	cd06656	NULL
2263	222144231	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	125	cd00096	NULL
2263	222144231	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	55	cd05725	NULL
2263	222144231	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	91	cd05718	NULL
2263	222144231	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	90	cd04974	NULL
2263	222144231	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	73	cd05858	NULL
2263	222144231	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	200	smart00409	NULL
2263	222144231	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	200	smart00410	NULL
2263	222144231	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	112	pfam07686	NULL
2263	222144231	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	95	pfam07679	NULL
2263	222144231	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	120	smart00408	NULL
2263	222144244	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144235	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144233	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	7	cd06635	NULL
2263	222144233	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	3	cd06658	NULL
2263	222144233	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	10	cd05107	NULL
2263	222144233	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	10	cd05105	NULL
2263	222144233	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	8	cd05104	NULL
2263	222144233	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	11	cd05106	NULL
2263	120049	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	123	cd00096	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	53	cd05725	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	55	cd05723	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	63	cd05765	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	71	cd05858	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	88	cd04974	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	88	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	198	smart00409	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	198	smart00410	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	110	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	69	cd04968	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	93	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	118	smart00408	221316639,NP_000132
2263	222144241	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	11_G	cd06635	NULL
2263	222144241	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	8	cd06658	NULL
2263	222144241	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd06656	NULL
2263	222144241	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd06647	NULL
2263	222144241	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	15	cd05105	NULL
2263	222144241	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	13	cd05104	NULL
2263	222144241	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	15	cd05107	NULL
2263	222144241	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	16	cd05106	NULL
2263	222144241	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	4	cd06659	NULL
2263	222144237	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	14	cd05106	NULL
2263	222144237	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	10	cd06635	NULL
2263	222144237	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd06659	NULL
2263	222144237	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	11	cd05104	NULL
2263	222144237	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	13	cd05105	NULL
2263	222144237	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	13	cd05107	NULL
2263	222144237	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	6	cd06658	NULL
2263	221316638	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	125	cd00096	NULL
2263	221316638	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	55	cd05725	NULL
2263	221316638	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	91	cd05718	NULL
2263	221316638	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	90	cd04974	NULL
2263	221316638	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	73	cd05858	NULL
2263	221316638	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	200	smart00409	NULL
2263	221316638	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	200	smart00410	NULL
2263	221316638	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	112	pfam07686	NULL
2263	221316638	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	95	pfam07679	NULL
2263	221316638	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	120	smart00408	NULL
2263	222144239	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	3	cd06659	NULL
2263	222144239	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	14	cd05107	NULL
2263	222144239	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	12	cd05104	NULL
2263	222144239	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	14	cd05105	NULL
2263	222144239	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	7	cd06658	NULL
2263	222144239	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	70	cd05858	NULL
2263	222144239	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	84	cd04974	NULL
2263	222144239	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	15	cd05106	NULL
2263	222144239	Disease	p.Tyr340His	176943.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	11	cd06635	NULL
2263	222144231	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	69	cd05725	NULL
2263	222144231	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	106	cd05718	NULL
2263	222144231	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	106	cd04974	NULL
2263	222144231	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	87	cd05858	NULL
2263	222144231	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	247	smart00409	NULL
2263	222144231	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	247	smart00410	NULL
2263	222144231	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	142	pfam07686	NULL
2263	222144231	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	110	pfam07679	NULL
2263	222144244	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144235	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd05106	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	9	cd07845	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	9	cd06614	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	17	cd06635	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd06655	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd05101	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd06607	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	16_G	cd06658	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	4	cd07878	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	4	cd07851	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	4	cd07850	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	24	cd05107	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	24	cd05105	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	22	cd05104	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	7	cd06639	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	25	cd05106	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	13	cd06659	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	9	cd06636	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	18	cd05055	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	7	cd06634	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	11	cd06656	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	11	cd06647	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	3	cd07877	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	3	cd06654	NULL
2263	222144233	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	5	cd05098	NULL
2263	120049	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	170	cd00096	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	67	cd05725	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	69	cd05723	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	77	cd05765	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	85	cd05858	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	104	cd04974	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	238	smart00409	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	238	smart00410	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	140	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	83	cd04968	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	108	pfam07679	221316639,NP_000132
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	8	cd07878	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	9	cd07851	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	9	cd07850	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	22	cd06635	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd07865	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	3	cd06644	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	7	cd06618	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	4	cd06638	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	4	cd05108	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	4	cd05053	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	4	cd05100	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	4	cd05099	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	19	cd06658	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	16	cd06656	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	16	cd06647	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	7	cd06655	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	7	cd06607	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	7	cd05101	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	10	cd05098	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	14	cd06639	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	29	cd05105	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	27	cd05104	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	29	cd05107	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	13	cd06636	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	29	cd05055	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	8	cd06654	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	8	cd07877	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	14	cd06614	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	10_G	cd07845	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	6	cd07880	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	12	cd06634	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	30	cd05106	NULL
2263	222144241	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	18	cd06659	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	10	cd06634	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	28	cd05106	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd05099	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd06638	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd05108	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd05100	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd05053	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	4	cd07880	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	20	cd06635	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	16	cd06659	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	7	cd07850	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	6_G	cd07878	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	7	cd07851	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	12	cd06639	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	10_G	cd07845	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	12	cd06614	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	25	cd05104	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	27	cd05105	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	27	cd05107	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	8	cd05098	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	14	cd06656	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	14	cd06647	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	6	cd06654	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	6	cd07877	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	27	cd05055	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	11_G	cd06636	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	5	cd06607	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	5	cd06655	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	5	cd05101	NULL
2263	222144237	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	17	cd06658	NULL
2263	221316638	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	69	cd05725	NULL
2263	221316638	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	106	cd05718	NULL
2263	221316638	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	106	cd04974	NULL
2263	221316638	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	87	cd05858	NULL
2263	221316638	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	247	smart00409	NULL
2263	221316638	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	247	smart00410	NULL
2263	221316638	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	142	pfam07686	NULL
2263	221316638	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	110	pfam07679	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	9	cd05098	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	17	cd06659	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	28	cd05107	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	26	cd05104	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	28	cd05105	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	18	cd06658	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	7	cd06654	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	7	cd07877	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	11	cd06634	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	12	cd06636	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	28	cd05055	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	83	cd05858	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	101	cd04974	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	10_G	cd07845	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	13	cd06614	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	8	cd07851	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	8	cd07850	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	7	cd07878	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	6	cd05101	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	6	cd06607	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	6	cd06655	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	13	cd06639	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	3	cd05108	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	3	cd05100	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	3	cd05053	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	3	cd06638	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	3	cd05099	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	5	cd07880	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	29	cd05106	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	21	cd06635	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	15	cd06647	NULL
2263	222144239	Disease	p.Ser354Cys	176943.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	15	cd06656	NULL
2263	222144231	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	129	cd00096	NULL
2263	222144231	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	59	cd05725	NULL
2263	222144231	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	95	cd05718	NULL
2263	222144231	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	94	cd04974	NULL
2263	222144231	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	77	cd05858	NULL
2263	222144231	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	219	smart00409	NULL
2263	222144231	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	219	smart00410	NULL
2263	222144231	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	118	pfam07686	NULL
2263	222144231	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	99	pfam07679	NULL
2263	222144231	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	124	smart00408	NULL
2263	222144244	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	No Domain	N/A	NULL
2263	222144235	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	No Domain	N/A	NULL
2263	222144233	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	11	cd06635	NULL
2263	222144233	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	7	cd06658	NULL
2263	222144233	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	14	cd05107	NULL
2263	222144233	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	14	cd05105	NULL
2263	222144233	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	12	cd05104	NULL
2263	222144233	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	15	cd05106	NULL
2263	222144233	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	3	cd06659	NULL
2263	120049	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	127	cd00096	221316639,NP_000132
2263	120049	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	57	cd05725	221316639,NP_000132
2263	120049	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	59	cd05723	221316639,NP_000132
2263	120049	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	67	cd05765	221316639,NP_000132
2263	120049	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	75	cd05858	221316639,NP_000132
2263	120049	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	92	cd04974	221316639,NP_000132
2263	120049	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	205	smart00409	221316639,NP_000132
2263	120049	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	205	smart00410	221316639,NP_000132
2263	120049	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	114	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	73	cd04968	221316639,NP_000132
2263	120049	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	97	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	122	smart00408	221316639,NP_000132
2263	222144241	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	15	cd06635	NULL
2263	222144241	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	12	cd06658	NULL
2263	222144241	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	6	cd06656	NULL
2263	222144241	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	6	cd06647	NULL
2263	222144241	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	2	cd06639	NULL
2263	222144241	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	19	cd05105	NULL
2263	222144241	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	17	cd05104	NULL
2263	222144241	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	19	cd05107	NULL
2263	222144241	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	4	cd06636	NULL
2263	222144241	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	9	cd05055	NULL
2263	222144241	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	4	cd06614	NULL
2263	222144241	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	4	cd07845	NULL
2263	222144241	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	20	cd05106	NULL
2263	222144241	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	8	cd06659	NULL
2263	222144237	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	18	cd05106	NULL
2263	222144237	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	13	cd06635	NULL
2263	222144237	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	6	cd06659	NULL
2263	222144237	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	2	cd07845	NULL
2263	222144237	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	2	cd06614	NULL
2263	222144237	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	15	cd05104	NULL
2263	222144237	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	17	cd05105	NULL
2263	222144237	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	17	cd05107	NULL
2263	222144237	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	4	cd06656	NULL
2263	222144237	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	4	cd06647	NULL
2263	222144237	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	10	cd06658	NULL
2263	221316638	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	129	cd00096	NULL
2263	221316638	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	59	cd05725	NULL
2263	221316638	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	95	cd05718	NULL
2263	221316638	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	94	cd04974	NULL
2263	221316638	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	77	cd05858	NULL
2263	221316638	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	219	smart00409	NULL
2263	221316638	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	219	smart00410	NULL
2263	221316638	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	118	pfam07686	NULL
2263	221316638	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	99	pfam07679	NULL
2263	221316638	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	124	smart00408	NULL
2263	222144239	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	7	cd06659	NULL
2263	222144239	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	18	cd05107	NULL
2263	222144239	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	16	cd05104	NULL
2263	222144239	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	18	cd05105	NULL
2263	222144239	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	11	cd06658	NULL
2263	222144239	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	3	cd06636	NULL
2263	222144239	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	8	cd05055	NULL
2263	222144239	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	74	cd05858	NULL
2263	222144239	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	88	cd04974	NULL
2263	222144239	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	3	cd07845	NULL
2263	222144239	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	3	cd06614	NULL
2263	222144239	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	19	cd05106	NULL
2263	222144239	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	14	cd06635	NULL
2263	222144239	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	5	cd06647	NULL
2263	222144239	Disease	p.Ala344Ala	176943.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT||SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY	OMIM	5	cd06656	NULL
2263	222144231	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	129	cd00096	NULL
2263	222144231	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	59	cd05725	NULL
2263	222144231	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	95	cd05718	NULL
2263	222144231	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	94	cd04974	NULL
2263	222144231	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	77	cd05858	NULL
2263	222144231	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	219	smart00409	NULL
2263	222144231	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	219	smart00410	NULL
2263	222144231	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	118	pfam07686	NULL
2263	222144231	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	99	pfam07679	NULL
2263	222144231	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	124	smart00408	NULL
2263	222144244	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144235	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144233	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	11	cd06635	NULL
2263	222144233	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	7	cd06658	NULL
2263	222144233	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	14	cd05107	NULL
2263	222144233	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	14	cd05105	NULL
2263	222144233	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	12	cd05104	NULL
2263	222144233	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	15	cd05106	NULL
2263	222144233	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	3	cd06659	NULL
2263	120049	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	127	cd00096	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	57	cd05725	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	59	cd05723	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	67	cd05765	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	75	cd05858	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	92	cd04974	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	205	smart00409	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	205	smart00410	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	114	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	73	cd04968	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	97	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	122	smart00408	221316639,NP_000132
2263	222144241	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	15	cd06635	NULL
2263	222144241	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	12	cd06658	NULL
2263	222144241	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	6	cd06656	NULL
2263	222144241	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	6	cd06647	NULL
2263	222144241	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	2	cd06639	NULL
2263	222144241	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	19	cd05105	NULL
2263	222144241	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	17	cd05104	NULL
2263	222144241	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	19	cd05107	NULL
2263	222144241	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	4	cd06636	NULL
2263	222144241	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	9	cd05055	NULL
2263	222144241	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	4	cd06614	NULL
2263	222144241	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	4	cd07845	NULL
2263	222144241	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	20	cd05106	NULL
2263	222144241	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	8	cd06659	NULL
2263	222144237	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	18	cd05106	NULL
2263	222144237	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	13	cd06635	NULL
2263	222144237	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	6	cd06659	NULL
2263	222144237	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	2	cd07845	NULL
2263	222144237	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	2	cd06614	NULL
2263	222144237	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	15	cd05104	NULL
2263	222144237	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	17	cd05105	NULL
2263	222144237	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	17	cd05107	NULL
2263	222144237	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	4	cd06656	NULL
2263	222144237	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	4	cd06647	NULL
2263	222144237	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	10	cd06658	NULL
2263	221316638	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	129	cd00096	NULL
2263	221316638	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	59	cd05725	NULL
2263	221316638	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	95	cd05718	NULL
2263	221316638	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	94	cd04974	NULL
2263	221316638	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	77	cd05858	NULL
2263	221316638	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	219	smart00409	NULL
2263	221316638	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	219	smart00410	NULL
2263	221316638	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	118	pfam07686	NULL
2263	221316638	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	99	pfam07679	NULL
2263	221316638	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	124	smart00408	NULL
2263	222144239	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	7	cd06659	NULL
2263	222144239	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	18	cd05107	NULL
2263	222144239	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	16	cd05104	NULL
2263	222144239	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	18	cd05105	NULL
2263	222144239	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	11	cd06658	NULL
2263	222144239	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	3	cd06636	NULL
2263	222144239	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	8	cd05055	NULL
2263	222144239	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	74	cd05858	NULL
2263	222144239	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	88	cd04974	NULL
2263	222144239	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	3	cd07845	NULL
2263	222144239	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	3	cd06614	NULL
2263	222144239	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	19	cd05106	NULL
2263	222144239	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	14	cd06635	NULL
2263	222144239	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	5	cd06647	NULL
2263	222144239	Disease	p.Ala344Gly	176943.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	JACKSON-WEISS SYNDROME||CROUZON SYNDROME	OMIM	5	cd06656	NULL
2263	222144231	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	97	cd00096	NULL
2263	222144231	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	43	cd05725	NULL
2263	222144231	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	79	cd05718	NULL
2263	222144231	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	70	cd04974	NULL
2263	222144231	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	61	cd05858	NULL
2263	222144231	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	180	smart00409	NULL
2263	222144231	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	180	smart00410	NULL
2263	222144231	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	99	pfam07686	NULL
2263	222144231	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	83	pfam07679	NULL
2263	222144231	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	107	smart00408	NULL
2263	222144244	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144235	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144233	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	120049	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	95	cd00096	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	41	cd05725	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	43	cd05723	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	51	cd05765	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	59	cd05858	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	68	cd04974	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	75	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	178	smart00409	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	178	smart00410	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	97	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	57	cd04968	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	81	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	105	smart00408	221316639,NP_000132
2263	222144241	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	4	cd05106	NULL
2263	222144237	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd05106	NULL
2263	221316638	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	97	cd00096	NULL
2263	221316638	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	43	cd05725	NULL
2263	221316638	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	79	cd05718	NULL
2263	221316638	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	70	cd04974	NULL
2263	221316638	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	61	cd05858	NULL
2263	221316638	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	180	smart00409	NULL
2263	221316638	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	180	smart00410	NULL
2263	221316638	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	99	pfam07686	NULL
2263	221316638	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	83	pfam07679	NULL
2263	221316638	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	107	smart00408	NULL
2263	222144239	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	59	cd05858	NULL
2263	222144239	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	68	cd04974	NULL
2263	222144239	Disease	p.Tyr328Cys	176943.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	3	cd05106	NULL
2263	222144231	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	165	cd00096	NULL
2263	222144231	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	62	cd05725	NULL
2263	222144231	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	99	cd05718	NULL
2263	222144231	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	99	cd04974	NULL
2263	222144231	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	80	cd05858	NULL
2263	222144231	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	227	smart00409	NULL
2263	222144231	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	227	smart00410	NULL
2263	222144231	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	135	pfam07686	NULL
2263	222144231	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	103	pfam07679	NULL
2263	222144244	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144235	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144233	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd07845	NULL
2263	222144233	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd06614	NULL
2263	222144233	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	13	cd06635	NULL
2263	222144233	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	10	cd06658	NULL
2263	222144233	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	17	cd05107	NULL
2263	222144233	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	17	cd05105	NULL
2263	222144233	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	15	cd05104	NULL
2263	222144233	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	18	cd05106	NULL
2263	222144233	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	6	cd06659	NULL
2263	222144233	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	4	cd06656	NULL
2263	222144233	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	4	cd06647	NULL
2263	120049	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	130	cd00096	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	60	cd05725	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	62	cd05723	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	70	cd05765	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	78	cd05858	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	95	cd04974	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	224	smart00409	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	224	smart00410	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	119	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	76	cd04968	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	100	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	125	smart00408	221316639,NP_000132
2263	222144241	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd07878	NULL
2263	222144241	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd07851	NULL
2263	222144241	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd07850	NULL
2263	222144241	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	15_G	cd06635	NULL
2263	222144241	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	15	cd06658	NULL
2263	222144241	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	9	cd06656	NULL
2263	222144241	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	9	cd06647	NULL
2263	222144241	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	3	cd05098	NULL
2263	222144241	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	5	cd06639	NULL
2263	222144241	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	22	cd05105	NULL
2263	222144241	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	20	cd05104	NULL
2263	222144241	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	22	cd05107	NULL
2263	222144241	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	7	cd06636	NULL
2263	222144241	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	12	cd05055	NULL
2263	222144241	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	7	cd06614	NULL
2263	222144241	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	7	cd07845	NULL
2263	222144241	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	5	cd06634	NULL
2263	222144241	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	23	cd05106	NULL
2263	222144241	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	11	cd06659	NULL
2263	222144237	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	3	cd06634	NULL
2263	222144237	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	21	cd05106	NULL
2263	222144237	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	15_G	cd06635	NULL
2263	222144237	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	9	cd06659	NULL
2263	222144237	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	3	cd06639	NULL
2263	222144237	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	5	cd07845	NULL
2263	222144237	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	5	cd06614	NULL
2263	222144237	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	18	cd05104	NULL
2263	222144237	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	20	cd05105	NULL
2263	222144237	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	20	cd05107	NULL
2263	222144237	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	7	cd06656	NULL
2263	222144237	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	7	cd06647	NULL
2263	222144237	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	10	cd05055	NULL
2263	222144237	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	5	cd06636	NULL
2263	222144237	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	13	cd06658	NULL
2263	221316638	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	165	cd00096	NULL
2263	221316638	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	62	cd05725	NULL
2263	221316638	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	99	cd05718	NULL
2263	221316638	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	99	cd04974	NULL
2263	221316638	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	80	cd05858	NULL
2263	221316638	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	227	smart00409	NULL
2263	221316638	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	227	smart00410	NULL
2263	221316638	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	135	pfam07686	NULL
2263	221316638	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	103	pfam07679	NULL
2263	222144239	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd05098	NULL
2263	222144239	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	10	cd06659	NULL
2263	222144239	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	21	cd05107	NULL
2263	222144239	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	19	cd05104	NULL
2263	222144239	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	21	cd05105	NULL
2263	222144239	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	14	cd06658	NULL
2263	222144239	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	4	cd06634	NULL
2263	222144239	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	6	cd06636	NULL
2263	222144239	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	11	cd05055	NULL
2263	222144239	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	77	cd05858	NULL
2263	222144239	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	91	cd04974	NULL
2263	222144239	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	6	cd07845	NULL
2263	222144239	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	6	cd06614	NULL
2263	222144239	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	4	cd06639	NULL
2263	222144239	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	22	cd05106	NULL
2263	222144239	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	15_G	cd06635	NULL
2263	222144239	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	8	cd06647	NULL
2263	222144239	Disease	p.Ser347Cys	176943.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	8	cd06656	NULL
2263	222144231	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144244	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	92	cd04974	NULL
2263	222144244	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	75	cd05858	NULL
2263	222144244	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	122	smart00408	NULL
2263	222144244	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	205	smart00409	NULL
2263	222144244	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	205	smart00410	NULL
2263	222144244	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	127	cd00096	NULL
2263	222144244	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	57	cd05725	NULL
2263	222144244	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	93	cd05718	NULL
2263	222144244	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	114	pfam07686	NULL
2263	222144244	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	97	pfam07679	NULL
2263	222144235	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	73	cd05858	NULL
2263	222144235	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	90	cd04974	NULL
2263	222144235	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	90	pfam00047	NULL
2263	222144235	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	65	cd05765	NULL
2263	222144235	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	57	cd05723	NULL
2263	222144235	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	120	smart00408	NULL
2263	222144235	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	71	cd04968	NULL
2263	222144235	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	200	smart00409	NULL
2263	222144235	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	200	smart00410	NULL
2263	222144235	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	125	cd00096	NULL
2263	222144235	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	55	cd05725	NULL
2263	222144235	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	112	pfam07686	NULL
2263	222144235	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	95	pfam07679	NULL
2263	222144233	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	No Domain	N/A	NULL
2263	120049	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	No Domain	N/A	221316639,NP_000132
2263	222144241	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144237	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	No Domain	N/A	NULL
2263	221316638	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144239	Disease	p.Pro253Arg	176943.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144231	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	126	cd00096	NULL
2263	222144231	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	56	cd05725	NULL
2263	222144231	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	92	cd05718	NULL
2263	222144231	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	91	cd04974	NULL
2263	222144231	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	74	cd05858	NULL
2263	222144231	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	201	smart00409	NULL
2263	222144231	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	201	smart00410	NULL
2263	222144231	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	113	pfam07686	NULL
2263	222144231	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	96	pfam07679	NULL
2263	222144231	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	121	smart00408	NULL
2263	222144244	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144235	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144233	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	8	cd06635	NULL
2263	222144233	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	4	cd06658	NULL
2263	222144233	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	11	cd05107	NULL
2263	222144233	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	11	cd05105	NULL
2263	222144233	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	9	cd05104	NULL
2263	222144233	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	12	cd05106	NULL
2263	120049	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	124	cd00096	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	54	cd05725	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	56	cd05723	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	64	cd05765	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	72	cd05858	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	89	cd04974	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	89	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	199	smart00409	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	199	smart00410	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	111	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	70	cd04968	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	94	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	119	smart00408	221316639,NP_000132
2263	222144241	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	12	cd06635	NULL
2263	222144241	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	9	cd06658	NULL
2263	222144241	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	3	cd06656	NULL
2263	222144241	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	3	cd06647	NULL
2263	222144241	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	16	cd05105	NULL
2263	222144241	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	14	cd05104	NULL
2263	222144241	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	16	cd05107	NULL
2263	222144241	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	17	cd05106	NULL
2263	222144241	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	5	cd06659	NULL
2263	222144237	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	15	cd05106	NULL
2263	222144237	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	11	cd06635	NULL
2263	222144237	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	3	cd06659	NULL
2263	222144237	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	12	cd05104	NULL
2263	222144237	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	14	cd05105	NULL
2263	222144237	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	14	cd05107	NULL
2263	222144237	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	7	cd06658	NULL
2263	221316638	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	126	cd00096	NULL
2263	221316638	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	56	cd05725	NULL
2263	221316638	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	92	cd05718	NULL
2263	221316638	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	91	cd04974	NULL
2263	221316638	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	74	cd05858	NULL
2263	221316638	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	201	smart00409	NULL
2263	221316638	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	201	smart00410	NULL
2263	221316638	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	113	pfam07686	NULL
2263	221316638	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	96	pfam07679	NULL
2263	221316638	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	121	smart00408	NULL
2263	222144239	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	4	cd06659	NULL
2263	222144239	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	15	cd05107	NULL
2263	222144239	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	13	cd05104	NULL
2263	222144239	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	15	cd05105	NULL
2263	222144239	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	8	cd06658	NULL
2263	222144239	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	71	cd05858	NULL
2263	222144239	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd04974	NULL
2263	222144239	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	16	cd05106	NULL
2263	222144239	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	11_G	cd06635	NULL
2263	222144239	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	2	cd06647	NULL
2263	222144239	Disease	p.Thr341Pro	176943.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	2	cd06656	NULL
2263	222144231	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	127	cd00096	NULL
2263	222144231	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	57	cd05725	NULL
2263	222144231	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	93	cd05718	NULL
2263	222144231	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	92	cd04974	NULL
2263	222144231	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	75	cd05858	NULL
2263	222144231	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	205	smart00409	NULL
2263	222144231	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	205	smart00410	NULL
2263	222144231	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	114	pfam07686	NULL
2263	222144231	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	97	pfam07679	NULL
2263	222144231	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	122	smart00408	NULL
2263	222144244	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144235	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144233	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	9	cd06635	NULL
2263	222144233	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	5	cd06658	NULL
2263	222144233	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	12	cd05107	NULL
2263	222144233	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	12	cd05105	NULL
2263	222144233	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	10	cd05104	NULL
2263	222144233	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	13	cd05106	NULL
2263	120049	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	125	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	55	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	57	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	65	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	73	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	90	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	90	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	200	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	200	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	112	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	71	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	95	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	120	smart00408	221316639,NP_000132
2263	222144241	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	13	cd06635	NULL
2263	222144241	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	10	cd06658	NULL
2263	222144241	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	4	cd06656	NULL
2263	222144241	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	4	cd06647	NULL
2263	222144241	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	17	cd05105	NULL
2263	222144241	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	15	cd05104	NULL
2263	222144241	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	17	cd05107	NULL
2263	222144241	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd06614	NULL
2263	222144241	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd07845	NULL
2263	222144241	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	18	cd05106	NULL
2263	222144241	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	6	cd06659	NULL
2263	222144237	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	16	cd05106	NULL
2263	222144237	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	11_G	cd06635	NULL
2263	222144237	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	4	cd06659	NULL
2263	222144237	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	13	cd05104	NULL
2263	222144237	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	15	cd05105	NULL
2263	222144237	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	15	cd05107	NULL
2263	222144237	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd06656	NULL
2263	222144237	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	2	cd06647	NULL
2263	222144237	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	8	cd06658	NULL
2263	221316638	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	127	cd00096	NULL
2263	221316638	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	57	cd05725	NULL
2263	221316638	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	93	cd05718	NULL
2263	221316638	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	92	cd04974	NULL
2263	221316638	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	75	cd05858	NULL
2263	221316638	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	205	smart00409	NULL
2263	221316638	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	205	smart00410	NULL
2263	221316638	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	114	pfam07686	NULL
2263	221316638	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	97	pfam07679	NULL
2263	221316638	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	122	smart00408	NULL
2263	222144239	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	5	cd06659	NULL
2263	222144239	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	16	cd05107	NULL
2263	222144239	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	14	cd05104	NULL
2263	222144239	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	16	cd05105	NULL
2263	222144239	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	9	cd06658	NULL
2263	222144239	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	72	cd05858	NULL
2263	222144239	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	86	cd04974	NULL
2263	222144239	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	17	cd05106	NULL
2263	222144239	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	12	cd06635	NULL
2263	222144239	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	3	cd06647	NULL
2263	222144239	Disease	p.Cys342Trp	176943.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	3	cd06656	NULL
2263	222144231	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	30	cd00096	NULL
2263	222144231	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	16	cd05725	NULL
2263	222144231	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	23	cd05718	NULL
2263	222144231	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	20	cd04974	NULL
2263	222144231	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	20	cd05858	NULL
2263	222144231	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	46	smart00409	NULL
2263	222144231	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	46	smart00410	NULL
2263	222144231	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	35	pfam07686	NULL
2263	222144231	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	35	pfam07679	NULL
2263	222144231	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	21	smart00408	NULL
2263	222144244	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144235	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144233	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	No Domain	N/A	NULL
2263	120049	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	30	cd00096	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	16	cd05725	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	17	cd05723	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	19	cd05765	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	20	cd05858	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	20	cd04974	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	24	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	46	smart00409	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	46	smart00410	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	35	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	34	cd04968	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	35	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	21	smart00408	221316639,NP_000132
2263	222144241	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144237	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	No Domain	N/A	NULL
2263	221316638	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	30	cd00096	NULL
2263	221316638	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	16	cd05725	NULL
2263	221316638	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	23	cd05718	NULL
2263	221316638	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	20	cd04974	NULL
2263	221316638	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	20	cd05858	NULL
2263	221316638	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	46	smart00409	NULL
2263	221316638	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	46	smart00410	NULL
2263	221316638	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	35	pfam07686	NULL
2263	221316638	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	35	pfam07679	NULL
2263	221316638	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	21	smart00408	NULL
2263	222144239	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	20	cd05858	NULL
2263	222144239	Disease	p.Gln289Pro	176943.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||JACKSON-WEISS SYNDROME	OMIM	20	cd04974	NULL
2263	222144231	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144244	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd06636	NULL
2263	222144244	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd05055	NULL
2263	222144244	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd06614	NULL
2263	222144244	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd07845	NULL
2263	222144244	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd06659	NULL
2263	222144244	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd06647	NULL
2263	222144244	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd06656	NULL
2263	222144244	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd06635	NULL
2263	222144244	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	19	cd05106	NULL
2263	222144244	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06658	NULL
2263	222144244	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	18	cd05105	NULL
2263	222144244	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05104	NULL
2263	222144244	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	18	cd05107	NULL
2263	222144235	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	2	cd06639	NULL
2263	222144235	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd06659	NULL
2263	222144235	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05055	NULL
2263	222144235	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd06636	NULL
2263	222144235	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	20	cd05106	NULL
2263	222144235	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd06657	NULL
2263	222144235	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd06635	NULL
2263	222144235	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd06658	NULL
2263	222144235	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd06614	NULL
2263	222144235	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd07845	NULL
2263	222144235	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	19	cd05107	NULL
2263	222144235	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd05104	NULL
2263	222144235	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	19	cd05105	NULL
2263	222144235	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd06656	NULL
2263	222144235	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd06647	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd06626	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd07829	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd07840	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06608	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd06613	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd07844	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd06612	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd06640	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd06641	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd06642	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd07831	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd07846	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd07833	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd06917	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd06625	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd07842	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14_G	cd07845	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	24	cd06614	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	20	cd06618	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd07865	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd06644	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	30	cd06635	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	24	cd06655	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	20	cd05101	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	20	cd06607	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd08224	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd07873	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd07872	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd06652	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd07849	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05043	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd07871	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd06653	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	27	cd06658	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	20_G	cd07878	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	20	cd07851	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	21_G	cd07850	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd06646	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd06645	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	42	cd05107	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	42	cd05105	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	40	cd05104	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd07857	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05122	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05583	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd07853	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd06606	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd08225	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd08528	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd07863	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd06629	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd07832	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05578	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd08223	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd06628	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd06630	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd08219	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05615	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05616	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05587	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05605	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd08220	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd08222	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd08218	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd06651	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd07834	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05045	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd07860	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd07841	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd06627	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd08530	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd06631	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd08215	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05614	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd05057	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd05054	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd05103	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd05102	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd06624	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	27	cd06639	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	43	cd05106	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	26	cd06659	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	21	cd06636	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	42	cd05055	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05093	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05094	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05092	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	24	cd06648	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05048	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05063	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05064	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05090	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05091	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06643	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05049	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06611	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05097	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05095	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05096	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05051	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05046	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05050	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	20	cd06634	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	20_G	cd07880	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	24	cd06656	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	24	cd06647	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	22_G	cd07877	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	25	cd06654	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05080	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05114	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05113	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05112	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd05111	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd05109	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd07866	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd05110	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05065	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05033	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05066	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05038	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05079	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05081	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd06616	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd05088	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	23	cd05098	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05589	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05059	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	pfam00069	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd07830	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	pfam07714	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	smart00219	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05035	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05075	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05074	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd07835	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd07838	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd07854	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	smart00221	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd07856	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd08529	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd05581	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd06623	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	44	COG0515	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd08229	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd06605	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd06622	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd05612	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd07862	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd08228	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7_G	cd07839	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd06609	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd06619	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd06615	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd06621	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd05580	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd07837	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd07847	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd07836	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd06617	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd06610	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd07848	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd07861	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd05053	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd05099	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd05100	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	23	cd06638	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14_G	cd05108	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05071	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd05089	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05069	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05052	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd07864	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05073	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05034	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05148	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05039	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05067	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05082	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05083	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05070	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05072	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05068	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd07870	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd07858	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05032	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06637	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05036	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05062	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05056	NULL
2263	222144233	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05061	NULL
2263	120049	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	No Domain	N/A	221316639,NP_000132
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd07846	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd07833	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd06625	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd07842	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07831	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06917	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd00180	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05572	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05123	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05115	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd08221	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05579	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05047	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05608	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05607	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	25	cd07878	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	25	cd07851	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	26	cd07850	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05090	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05091	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd06643	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05092	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	29	cd06648	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05049	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd06611	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05048	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05063	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05064	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05097	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05095	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05096	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	23	cd05051	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05046	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05050	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05093	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05094	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	35	cd06635	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	22	cd07865	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	22	cd06644	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	25	cd06618	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06626	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd07829	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd07840	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	28	cd06638	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd05108	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	22	cd05053	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	22	cd05100	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	22	cd05099	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd05111	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd06616	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd05110	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd05088	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05080	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	19	cd07866	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05065	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05033	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05066	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05038	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05079	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05081	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05114	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05113	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05112	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd05109	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	32	cd06658	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	29	cd06656	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	29	cd06647	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd08217	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05058	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05042	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05087	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05086	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05118	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05594	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05590	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05591	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05619	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05620	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05570	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05593	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05571	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05595	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05060	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05116	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05588	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05617	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05078	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05077	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05037	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05076	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd00192	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05592	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05085	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05084	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05040	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05041	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05044	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd05582	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd06652	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd05043	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd07871	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd06653	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd07849	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd08224	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd07873	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd07872	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	29	cd06655	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	25	cd06607	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	25	cd05101	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	28	cd05098	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	32	cd06639	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	47	cd05105	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	45	cd05104	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	47	cd05107	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	26	cd06636	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	47	cd05055	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	30	cd06654	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	27	cd07877	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	30	cd06614	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd07845	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06631	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd08215	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05605	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd07832	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05614	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd08219	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd07860	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd08528	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd08220	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd08222	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd08218	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd06651	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd05122	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd07841	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06627	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd08530	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05045	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd07863	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd06606	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd08225	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd07834	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd07857	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05578	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05615	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05616	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05587	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05583	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd08223	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06628	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06630	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06629	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd07853	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd07844	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd06612	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd06613	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd06640	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd06641	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd06642	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd06608	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	25	cd07880	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	19	cd06646	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	19	cd06645	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	25	cd06634	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07838	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	pfam00069	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07830	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	pfam07714	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	smart00219	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07835	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05035	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05075	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05074	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05589	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05059	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd07854	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	smart00221	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	48	cd05106	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06632	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd05584	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	28	cd05057	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	18	cd06624	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd05054	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd05103	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd05102	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06610	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd08228	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05612	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	20	cd07856	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd08229	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06605	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd07837	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd07847	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd07836	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06622	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd07839	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd06609	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06619	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06615	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd08529	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06617	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	18	cd05581	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	52	COG0515	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05580	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd06623	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd07848	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd07861	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06621	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd07862	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	31	cd06659	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05069	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05073	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05034	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05148	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05039	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05067	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05082	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05083	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05070	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05072	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05068	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd07864	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd07858	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05071	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd07870	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd05089	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05052	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	18	cd05032	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd06637	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05036	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05062	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05056	NULL
2263	222144241	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05061	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05122	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd08220	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd08222	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd08218	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06651	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd07863	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd07853	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd06631	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd08215	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd05614	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd05615	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd05616	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd05587	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd08223	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd06628	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd06630	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07841	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd06627	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd08530	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd08528	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd08219	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd07857	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd06629	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd05578	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd05045	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd07860	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd05605	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd06606	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd08225	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd05583	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd07832	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd07834	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05078	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05077	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05037	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05076	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd00192	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05582	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd08217	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05594	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05590	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05591	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd05118	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05619	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05620	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05588	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05617	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05085	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05084	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05040	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05041	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05044	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05058	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05042	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05087	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05086	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05570	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05593	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05571	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05595	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05592	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05060	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	3	cd05116	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	23	cd06634	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd06624	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	26	cd05057	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05054	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05103	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05102	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	46	cd05106	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	20	cd05099	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	26	cd06638	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05108	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	20	cd05100	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	20	cd05053	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd05059	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd07854	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd05035	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd05075	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd05074	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	smart00221	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd07838	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	pfam00069	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd07830	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	pfam07714	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	smart00219	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd05589	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd07835	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	23	cd07880	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05056	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd07864	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05052	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05061	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05073	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05034	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05148	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05039	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05067	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05082	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05083	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05070	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05072	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05068	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd07858	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05089	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05032	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd06637	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05036	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05062	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd07870	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05069	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05071	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	33	cd06635	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	29	cd06659	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd06626	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd07829	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd07840	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd05114	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd05113	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd05112	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05109	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd06616	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd05065	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd05033	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd05066	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05038	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd05079	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd05081	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd07866	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05110	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd05080	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05088	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05111	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	24	cd07850	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	23	cd07878	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	23	cd07851	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	30	cd06639	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd07845	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	28	cd06614	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	43	cd05104	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	45	cd05105	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	45	cd05107	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	26	cd05098	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	27	cd06656	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	27	cd06647	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06652	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd07871	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd07849	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd07873	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06653	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05043	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd07872	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd08224	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05093	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05094	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05048	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05063	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05064	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	27	cd06648	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05090	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05091	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05049	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd06611	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05097	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05095	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05096	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	21	cd05051	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05046	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05050	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05092	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd06643	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	28	cd06654	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	25	cd07877	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	45	cd05055	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	24	cd06636	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	18	cd07856	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07862	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd06610	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05581	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd07839	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06609	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd06619	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd06615	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd06622	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07848	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd07861	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd06621	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd06617	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd08229	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd06605	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	47	COG0515	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd06623	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07837	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07847	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd07836	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05612	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd08228	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd08529	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05580	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	23	cd06618	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	20	cd07865	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	20	cd06644	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	23	cd06607	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	27	cd06655	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	23	cd05101	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd06632	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05584	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	7	cd07831	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06625	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07842	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07833	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07846	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	6	cd06917	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd06646	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd06645	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06613	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd06608	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06612	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd07844	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd06640	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd06641	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd06642	NULL
2263	222144237	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	30	cd06658	NULL
2263	221316638	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	2	cd05579	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05047	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	2	cd05123	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	2	cd00180	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	2	cd05572	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	2	cd05608	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	2	cd05607	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd08221	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05115	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	smart00221	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd07854	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	pfam00069	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd07830	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	pfam07714	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	smart00219	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd05589	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd07835	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05059	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd05035	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd05075	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd05074	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd07838	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	27	cd05098	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd05032	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd06637	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05036	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05062	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05071	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd07864	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd05089	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05052	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05056	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd07870	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd07858	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05073	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05034	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05148	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05039	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05067	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05082	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05083	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05070	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05072	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05068	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05069	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd05061	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06625	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd07842	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06917	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd07831	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd07846	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd07833	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	30	cd06659	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	46	cd05107	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	44	cd05104	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	46	cd05105	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05049	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd06611	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05097	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05095	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05096	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	22	cd05051	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05046	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05050	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	28	cd06648	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd06643	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05090	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05091	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05093	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05094	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05048	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05063	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05064	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05092	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	31	cd06658	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05584	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd06632	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd06640	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd06641	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd06642	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd06608	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd06612	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd07844	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd06613	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	29	cd06654	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	26	cd07877	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	24	cd06634	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	25	cd06636	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	46	cd05055	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd07845	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	29	cd06614	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	24	cd07851	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	25	cd07850	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	24	cd07878	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd08229	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06605	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05580	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd07848	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07861	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd07862	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06610	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd08529	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	19	cd07856	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd07837	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd07847	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07836	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd05581	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd08228	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06621	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd06623	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06617	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07839	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06609	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06619	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06615	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd05612	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	48	COG0515	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06622	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05080	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd06616	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05109	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05065	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05033	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05066	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd05038	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05079	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05081	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05088	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05111	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05110	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05114	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05113	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	13	cd05112	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	18	cd07866	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	24	cd05101	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	24	cd06607	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	28	cd06655	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	21	cd06644	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	21	cd07865	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	24	cd06618	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	31	cd06639	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05108	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	21	cd05100	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	21	cd05053	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	27	cd06638	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	21	cd05099	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd08223	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd06628	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd06630	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd08219	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05615	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05616	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05587	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd08220	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd08222	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd08218	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06651	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd07841	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06627	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd08530	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05583	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd07834	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06629	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05614	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd06631	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd08215	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd06606	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd08225	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07860	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd08528	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05578	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07863	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07853	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07857	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07832	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05122	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05045	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd05605	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	18	cd06646	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	18	cd06645	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	24	cd07880	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05592	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05085	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05084	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05040	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05041	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05044	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05060	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05116	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05570	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05593	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05571	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05595	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05588	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05617	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05619	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05620	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	5	cd05582	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd08217	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05078	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05077	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05037	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05076	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd00192	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	8	cd05118	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05594	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05590	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05591	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05058	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05042	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05087	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	4	cd05086	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	47	cd05106	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	34	cd06635	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	10	cd06626	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	9	cd07829	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	12	cd07840	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd07871	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06653	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd08224	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd07872	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	15	cd07873	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	14	cd07849	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	11	cd06652	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05043	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	17	cd06624	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	27	cd05057	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05054	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05103	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	16	cd05102	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	28	cd06647	NULL
2263	222144239	Disease	p.Ser372Cys	176943.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	BEARE-STEVENSON CUTIS GYRATA SYNDROME	OMIM	28	cd06656	NULL
2263	222144231	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144244	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	91	cd04974	NULL
2263	222144244	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	74	cd05858	NULL
2263	222144244	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	121	smart00408	NULL
2263	222144244	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	201	smart00409	NULL
2263	222144244	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	201	smart00410	NULL
2263	222144244	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	126	cd00096	NULL
2263	222144244	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	56	cd05725	NULL
2263	222144244	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	92	cd05718	NULL
2263	222144244	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	113	pfam07686	NULL
2263	222144244	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	96	pfam07679	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	72	cd05858	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	89	cd04974	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	89	pfam00047	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	64	cd05765	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	56	cd05723	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	119	smart00408	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	70	cd04968	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	199	smart00409	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	199	smart00410	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	124	cd00096	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	54	cd05725	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	111	pfam07686	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	94	pfam07679	NULL
2263	222144233	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	No Domain	N/A	NULL
2263	120049	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	No Domain	N/A	221316639,NP_000132
2263	222144241	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144237	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	No Domain	N/A	NULL
2263	221316638	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144239	Disease	p.Ser252Phe	176943.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	APERT SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144231	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	No Domain	N/A	NULL
2263	222144244	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	91	cd04974	NULL
2263	222144244	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	74	cd05858	NULL
2263	222144244	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	121	smart00408	NULL
2263	222144244	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	201	smart00409	NULL
2263	222144244	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	201	smart00410	NULL
2263	222144244	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	126	cd00096	NULL
2263	222144244	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	56	cd05725	NULL
2263	222144244	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	92	cd05718	NULL
2263	222144244	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	113	pfam07686	NULL
2263	222144244	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	96	pfam07679	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	72	cd05858	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	89	cd04974	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	89	pfam00047	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	64	cd05765	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	56	cd05723	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	119	smart00408	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	70	cd04968	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	199	smart00409	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	199	smart00410	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	124	cd00096	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	54	cd05725	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	111	pfam07686	NULL
2263	222144235	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	94	pfam07679	NULL
2263	222144233	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	No Domain	N/A	NULL
2263	120049	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	No Domain	N/A	221316639,NP_000132
2263	222144241	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	No Domain	N/A	NULL
2263	222144237	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	No Domain	N/A	NULL
2263	221316638	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	No Domain	N/A	NULL
2263	222144239	Disease	p.Ser252Phe	176943.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME VARIANT	OMIM	No Domain	N/A	NULL
2263	222144231	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	31	cd00096	NULL
2263	222144231	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	17	cd05725	NULL
2263	222144231	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	24	cd05718	NULL
2263	222144231	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	21	cd04974	NULL
2263	222144231	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	21	cd05858	NULL
2263	222144231	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	48	smart00409	NULL
2263	222144231	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	48	smart00410	NULL
2263	222144231	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	36	pfam07686	NULL
2263	222144231	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	36	pfam07679	NULL
2263	222144231	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	22	smart00408	NULL
2263	222144244	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144235	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144233	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	No Domain	N/A	NULL
2263	120049	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	31	cd00096	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	17	cd05725	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	18	cd05723	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	20	cd05765	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	21	cd05858	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	21	cd04974	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	25	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	48	smart00409	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	48	smart00410	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	36	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	35	cd04968	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	36	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	22	smart00408	221316639,NP_000132
2263	222144241	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144237	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	No Domain	N/A	NULL
2263	221316638	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	31	cd00096	NULL
2263	221316638	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	17	cd05725	NULL
2263	221316638	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	24	cd05718	NULL
2263	221316638	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	21	cd04974	NULL
2263	221316638	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	21	cd05858	NULL
2263	221316638	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	48	smart00409	NULL
2263	221316638	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	48	smart00410	NULL
2263	221316638	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	36	pfam07686	NULL
2263	221316638	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	36	pfam07679	NULL
2263	221316638	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	22	smart00408	NULL
2263	222144239	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	21	cd05858	NULL
2263	222144239	Disease	p.Trp290Cys	176943.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	21	cd04974	NULL
2263	222144231	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	33	cd00096	NULL
2263	222144231	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	19	cd05725	NULL
2263	222144231	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	26	cd05718	NULL
2263	222144231	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	23	cd04974	NULL
2263	222144231	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	23	cd05858	NULL
2263	222144231	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	54	smart00409	NULL
2263	222144231	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	54	smart00410	NULL
2263	222144231	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	38	pfam07686	NULL
2263	222144231	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	37_G	pfam07679	NULL
2263	222144231	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	25	smart00408	NULL
2263	222144244	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144235	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144233	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	120049	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	33	cd00096	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	19	cd05725	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	19_G	cd05723	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	22	cd05765	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	23	cd05858	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	23	cd04974	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	27	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	54	smart00409	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	54	smart00410	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	38	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	37	cd04968	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	37_G	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	25	smart00408	221316639,NP_000132
2263	222144241	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144237	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	221316638	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	33	cd00096	NULL
2263	221316638	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	19	cd05725	NULL
2263	221316638	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	26	cd05718	NULL
2263	221316638	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	23	cd04974	NULL
2263	221316638	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	23	cd05858	NULL
2263	221316638	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	54	smart00409	NULL
2263	221316638	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	54	smart00410	NULL
2263	221316638	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	38	pfam07686	NULL
2263	221316638	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	37_G	pfam07679	NULL
2263	221316638	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	25	smart00408	NULL
2263	222144239	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	23	cd05858	NULL
2263	222144239	Disease	p.Lys292Glu	176943.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	23	cd04974	NULL
2263	222144231	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	31	cd00096	NULL
2263	222144231	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	17	cd05725	NULL
2263	222144231	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	24	cd05718	NULL
2263	222144231	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	21	cd04974	NULL
2263	222144231	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	21	cd05858	NULL
2263	222144231	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	48	smart00409	NULL
2263	222144231	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	48	smart00410	NULL
2263	222144231	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	36	pfam07686	NULL
2263	222144231	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	36	pfam07679	NULL
2263	222144231	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	22	smart00408	NULL
2263	222144244	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144235	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144233	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	120049	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	31	cd00096	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	17	cd05725	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	18	cd05723	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	20	cd05765	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	21	cd05858	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	21	cd04974	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	25	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	48	smart00409	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	48	smart00410	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	36	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	35	cd04968	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	36	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	22	smart00408	221316639,NP_000132
2263	222144241	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144237	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	221316638	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	31	cd00096	NULL
2263	221316638	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	17	cd05725	NULL
2263	221316638	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	24	cd05718	NULL
2263	221316638	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	21	cd04974	NULL
2263	221316638	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	21	cd05858	NULL
2263	221316638	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	48	smart00409	NULL
2263	221316638	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	48	smart00410	NULL
2263	221316638	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	36	pfam07686	NULL
2263	221316638	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	36	pfam07679	NULL
2263	221316638	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	22	smart00408	NULL
2263	222144239	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	21	cd05858	NULL
2263	222144239	Disease	p.Trp290Arg	176943.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	21	cd04974	NULL
2263	222144231	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	31	cd00096	NULL
2263	222144231	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	17	cd05725	NULL
2263	222144231	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	24	cd05718	NULL
2263	222144231	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	21	cd04974	NULL
2263	222144231	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	21	cd05858	NULL
2263	222144231	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	48	smart00409	NULL
2263	222144231	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	48	smart00410	NULL
2263	222144231	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	36	pfam07686	NULL
2263	222144231	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	36	pfam07679	NULL
2263	222144231	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	22	smart00408	NULL
2263	222144244	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144235	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144233	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	120049	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	31	cd00096	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	17	cd05725	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	18	cd05723	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	20	cd05765	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	21	cd05858	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	21	cd04974	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	25	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	48	smart00409	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	48	smart00410	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	36	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	35	cd04968	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	36	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	22	smart00408	221316639,NP_000132
2263	222144241	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144237	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	No Domain	N/A	NULL
2263	221316638	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	31	cd00096	NULL
2263	221316638	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	17	cd05725	NULL
2263	221316638	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	24	cd05718	NULL
2263	221316638	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	21	cd04974	NULL
2263	221316638	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	21	cd05858	NULL
2263	221316638	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	48	smart00409	NULL
2263	221316638	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	48	smart00410	NULL
2263	221316638	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	36	pfam07686	NULL
2263	221316638	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	36	pfam07679	NULL
2263	221316638	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	22	smart00408	NULL
2263	222144239	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	21	cd05858	NULL
2263	222144239	Disease	p.Trp290Gly	176943.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME	OMIM	21	cd04974	NULL
2263	222144231	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	169	cd00096	NULL
2263	222144231	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	66	cd05725	NULL
2263	222144231	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	103	cd05718	NULL
2263	222144231	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	103	cd04974	NULL
2263	222144231	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	84	cd05858	NULL
2263	222144231	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	237	smart00409	NULL
2263	222144231	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	237	smart00410	NULL
2263	222144231	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	139	pfam07686	NULL
2263	222144231	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	107	pfam07679	NULL
2263	222144244	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	No Domain	N/A	NULL
2263	222144235	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	No Domain	N/A	NULL
2263	222144233	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	6	cd07845	NULL
2263	222144233	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	6	cd06614	NULL
2263	222144233	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	15_G	cd06635	NULL
2263	222144233	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	14	cd06658	NULL
2263	222144233	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	21	cd05107	NULL
2263	222144233	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	21	cd05105	NULL
2263	222144233	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	19	cd05104	NULL
2263	222144233	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	4	cd06639	NULL
2263	222144233	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	22	cd05106	NULL
2263	222144233	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	10	cd06659	NULL
2263	222144233	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	6	cd06636	NULL
2263	222144233	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	11	cd05055	NULL
2263	222144233	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	4	cd06634	NULL
2263	222144233	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	8	cd06656	NULL
2263	222144233	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	8	cd06647	NULL
2263	222144233	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	2	cd05098	NULL
2263	120049	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	167	cd00096	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	64	cd05725	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	66	cd05723	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	74	cd05765	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	82	cd05858	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	101	cd04974	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	231	smart00409	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	231	smart00410	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	137	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	80	cd04968	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	105	pfam07679	221316639,NP_000132
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	6	cd07878	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	6	cd07851	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	6	cd07850	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	19	cd06635	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	16_G	cd06658	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	13	cd06656	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	13	cd06647	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	4	cd06655	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	4	cd06607	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	4	cd05101	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	7	cd05098	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	11	cd06639	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	26	cd05105	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	24	cd05104	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	26	cd05107	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	11	cd06636	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	26	cd05055	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	5	cd06654	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	5	cd07877	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	11	cd06614	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	10_G	cd07845	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	3	cd07880	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	9	cd06634	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	27	cd05106	NULL
2263	222144241	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	15	cd06659	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	7	cd06634	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	25	cd05106	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	17	cd06635	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	13	cd06659	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	4	cd07850	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	4	cd07878	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	4	cd07851	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	7	cd06639	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	9	cd07845	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	9	cd06614	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	22	cd05104	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	24	cd05105	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	24	cd05107	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	5	cd05098	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	11	cd06656	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	11	cd06647	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	3	cd06654	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	3	cd07877	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	18	cd05055	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	9	cd06636	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	2	cd06607	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	2	cd06655	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	2	cd05101	NULL
2263	222144237	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	16_G	cd06658	NULL
2263	221316638	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	169	cd00096	NULL
2263	221316638	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	66	cd05725	NULL
2263	221316638	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	103	cd05718	NULL
2263	221316638	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	103	cd04974	NULL
2263	221316638	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	84	cd05858	NULL
2263	221316638	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	237	smart00409	NULL
2263	221316638	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	237	smart00410	NULL
2263	221316638	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	139	pfam07686	NULL
2263	221316638	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	107	pfam07679	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	6	cd05098	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	14	cd06659	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	25	cd05107	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	23	cd05104	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	25	cd05105	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	16_G	cd06658	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	4	cd06654	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	4	cd07877	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	8	cd06634	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	10	cd06636	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	25	cd05055	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	80	cd05858	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	95	cd04974	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	10	cd07845	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	10	cd06614	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	5	cd07851	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	5	cd07850	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	5	cd07878	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	3	cd05101	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	3	cd06607	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	3	cd06655	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	8	cd06639	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	2	cd07880	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	26	cd05106	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	18	cd06635	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	12	cd06647	NULL
2263	222144239	Disease	p.Ser351Cys	176943.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS	OMIM	12	cd06656	NULL
2263	222144231	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	84	cd00096	NULL
2263	222144231	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	39	cd05725	NULL
2263	222144231	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	60	cd05718	NULL
2263	222144231	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	55	cd04974	NULL
2263	222144231	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	46	cd05858	NULL
2263	222144231	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	123	smart00409	NULL
2263	222144231	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	123	smart00410	NULL
2263	222144231	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	87	pfam07686	NULL
2263	222144231	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	69	pfam07679	NULL
2263	222144231	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	74	smart00408	NULL
2263	222144244	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	No Domain	N/A	NULL
2263	222144235	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	No Domain	N/A	NULL
2263	222144233	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	No Domain	N/A	NULL
2263	120049	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	82	cd00096	221316639,NP_000132
2263	120049	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	36_G	cd05725	221316639,NP_000132
2263	120049	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	35_G	cd05723	221316639,NP_000132
2263	120049	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	39	cd05765	221316639,NP_000132
2263	120049	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	46	cd05858	221316639,NP_000132
2263	120049	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	55	cd04974	221316639,NP_000132
2263	120049	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	62	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	154	smart00409	221316639,NP_000132
2263	120049	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	154	smart00410	221316639,NP_000132
2263	120049	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	84	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	53	cd04968	221316639,NP_000132
2263	120049	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	69	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	74	smart00408	221316639,NP_000132
2263	222144241	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	No Domain	N/A	NULL
2263	222144237	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	No Domain	N/A	NULL
2263	221316638	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	84	cd00096	NULL
2263	221316638	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	39	cd05725	NULL
2263	221316638	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	60	cd05718	NULL
2263	221316638	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	55	cd04974	NULL
2263	221316638	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	46	cd05858	NULL
2263	221316638	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	123	smart00409	NULL
2263	221316638	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	123	smart00410	NULL
2263	221316638	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	87	pfam07686	NULL
2263	221316638	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	69	pfam07679	NULL
2263	221316638	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	74	smart00408	NULL
2263	222144239	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	46	cd05858	NULL
2263	222144239	Disease	p.Ala315Ser	176943.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL	OMIM	55	cd04974	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	89	cd07852	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	122	cd05106	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	97	cd06659	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	97	cd05053	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05108	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	97	cd05099	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	99	cd06638	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	97	cd05100	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	120	cd05055	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	98	cd06636	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	95	cd06647	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	95	cd06656	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	94	cd06607	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	100	cd05101	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	95	cd06655	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	cd05047	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	73	cd05115	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	72	cd05608	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	74	cd05579	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd08221	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	246	cd00180	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	121	cd05572	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	113	cd05123	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	103	cd05098	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	122	cd07840	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	106	cd07829	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd06626	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	93	cd06618	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd06644	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	91	cd07865	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	96	cd06654	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	98	cd06658	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	94	cd06634	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05111	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05109	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05080	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd05114	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd05113	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd05112	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05110	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05088	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	89	cd06616	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd05065	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	108	cd05033	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd05066	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	97	cd05038	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05079	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd05081	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd07866	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	93	cd07843	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	302	smart00220	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	120	cd05107	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	120	cd05105	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	118	cd05104	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd08229	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd06605	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd07847	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd08529	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd06621	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	94	cd06609	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd08228	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	99	cd06619	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	131	cd05581	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd07861	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	77	cd07836	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd06622	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd06615	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd07862	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd07839	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05612	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	103	cd06623	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd06617	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd06610	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	128	cd05580	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	92	cd07837	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05071	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	114	cd05056	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd05061	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	121	cd05032	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd06637	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd05036	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd05062	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd07864	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05069	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd05052	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05073	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05034	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd05148	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd05039	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05067	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05082	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	77	cd05083	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05070	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05072	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05068	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd05089	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	109	cd07851	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	97	cd08528	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	77	cd08219	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd08223	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd06628	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd06630	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	94	cd07841	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd06627	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd08530	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd08220	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd08222	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd08218	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd06651	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd06629	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154	cd06606	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd08225	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd05045	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	91	cd07832	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	103	cd05122	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	89	cd07863	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd07860	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05605	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd05587	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	73	cd07857	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05615	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05578	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05616	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd06631	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	105	cd08215	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	122	cd07834	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd05583	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	91	cd05054	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	91	cd05103	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	91	cd05102	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	89	cd06624	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	137	cd05057	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	110	cd06639	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd07872	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd08224	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd07873	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd07871	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	76	cd07849	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd06653	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	111	cd05043	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd06652	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	95	cd06648	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd05094	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd05092	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	98	cd05097	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	101	cd05095	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	98	cd05096	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	121	cd05051	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	147	cd05046	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05050	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd05093	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd06643	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	89	cd05049	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd06611	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd05048	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd05063	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd05064	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd05090	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05091	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05060	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	74	cd05116	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd05058	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	77	cd05042	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	74	cd05087	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	74	cd05086	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd05078	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd05077	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	95	cd05037	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	95	cd05076	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	141	cd00192	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	77	cd05570	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	77	cd05582	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05118	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	72	cd05085	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	72	cd05084	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05040	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	73	cd05041	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd05044	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd08217	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	cd05592	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	cd05619	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd06646	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd06645	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd05059	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	371	smart00221	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd07835	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd07854	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd05589	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	135	pfam00069	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	119	cd07830	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	130	pfam07714	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	243	smart00219	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	96	cd05035	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd05075	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd05074	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	103	cd07838	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd07846	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd07831	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	101	cd07833	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd06625	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd07842	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd06917	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	109	cd06614	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd07845	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	104	cd06635	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd05584	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	98	cd06632	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd06642	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd06641	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd06640	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd06613	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	118	cd06608	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd07844	NULL
2263	222144231	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	90	cd06612	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154_G	cd08228	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	166	cd06621	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	158	cd08529	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	170	cd07837	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd07861	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154	cd07836	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	166_G	cd06622	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	152_G	cd06615	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	158_G	cd07862	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd06609	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	268	cd05581	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	169	cd06619	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	165	cd06610	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	206	cd05580	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	153	cd07839	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	153	cd05612	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	201	cd06623	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155_G	cd06617	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	158	cd07847	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154_G	cd08229	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	169_G	cd06605	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	173	cd06636	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	291	cd05055	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	204	cd06614	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	173	cd07845	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	195	cd06608	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd06613	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd07844	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	153	cd06642	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	153	cd06641	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	153	cd06640	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	167	cd06612	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	156	cd05052	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	168_G	cd05089	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	170	cd07864	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154	cd05069	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	172	cd05061	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd05056	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd05073	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	159	cd05034	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	157	cd05148	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	158	cd05039	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154	cd05067	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154	cd05082	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	151	cd05083	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154	cd05070	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd05072	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	159	cd05068	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	216	cd05032	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	163	cd06637	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd05036	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	171	cd05062	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154	cd05071	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	161	cd07852	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd07851	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	167	cd06654	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	169	cd06659	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	158	cd06646	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	158	cd06645	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd06638	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd05100	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	161	cd05108	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd05099	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	202	cd05053	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	550	smart00220	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	166	cd06647	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	166	cd06656	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	167	cd06607	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	166	cd06655	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd05101	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	172	cd07832	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	163	cd08220	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	158	cd08222	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	153	cd08218	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	158	cd06651	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	198	cd07834	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	242	cd06606	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154	cd08225	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	159_G	cd07863	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	152	cd07860	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154	cd05605	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	158	cd05587	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	161	cd07857	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd05045	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd08528	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd05122	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	157	cd05583	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	156	cd06631	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	212	cd08215	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	169	cd07841	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	162	cd06627	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	161	cd08530	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	152	cd05615	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	153	cd05578	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	152	cd05616	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	162	cd06629	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	152	cd08219	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154	cd08223	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	160	cd06628	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	156	cd06630	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	202	cd07840	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	200_G	cd07829	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd06626	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	167_G	cd07843	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	167	cd06634	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd05092	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd05090	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd05091	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd05048	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	160	cd05063	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	159	cd05064	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	168	cd06648	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05094	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	172	cd05093	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	159	cd06643	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd05049	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	158	cd06611	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd05097	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd05095	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	219	cd05096	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	217	cd05051	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	238	cd05046	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd05050	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	281	cd05054	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	232	cd05103	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	230	cd05102	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	215	cd05057	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	166	cd06624	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155_G	cd07831	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	153	cd07846	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	163	cd06917	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd07833	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	158	cd06625	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	262	cd07842	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	157	cd05058	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd05042	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	157	cd05087	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	152	cd05086	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	163	cd05592	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	147	cd05619	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	148	cd05570	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	148	cd05582	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	161	cd05118	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	162	cd05078	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	162_G	cd05077	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd05037	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174_G	cd05076	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	372	cd00192	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	223	cd08217	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	146	cd05085	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	146	cd05084	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	160	cd05040	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	148	cd05041	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	169	cd05044	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd05060	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	147	cd05116	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd06635	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	274	cd05106	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	668	cd05123	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154	cd08221	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	147	cd05115	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	147_G	cd05608	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	452	cd00180	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	220	cd05572	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	148	cd05579	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	161_G	cd05047	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	152	cd05114	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	153	cd05113	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	152	cd05112	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd07866	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	165_G	cd06616	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	158	cd05065	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	194	cd05033	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	159	cd05066	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd05038	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	162	cd05079	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	161	cd05081	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	161	cd05111	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	163	cd05109	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	161	cd05110	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	173_G	cd05088	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	160	cd05080	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd07873	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd06652	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	156	cd07872	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd07871	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	162	cd07849	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	197	cd05043	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	159	cd08224	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	158	cd06653	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	192	cd05098	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	171	cd06632	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	156	cd05584	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	170	cd06658	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	smart00750	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154_G	cd05059	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175_G	cd07838	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05035	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd05075	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	165	cd05074	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	280	pfam00069	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	228	cd07830	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	327	pfam07714	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	466	smart00219	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd07835	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd07854	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	151	cd05589	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	636	smart00221	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd07865	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	169_G	cd06618	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	160	cd06644	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	292	cd05105	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	276	cd05104	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	294	cd05107	NULL
2263	222144244	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd06639	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	148	cd05608	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	153	cd05577	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	148	cd05607	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	149	cd05579	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154_G	cd08221	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	162	cd05047	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	669	cd05123	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	148	cd05115	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	453	cd00180	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	221	cd05572	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	153	cd08219	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	173	cd07832	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	162	cd07857	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd05122	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	170	cd07841	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	163	cd06627	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	162	cd08530	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154	cd05578	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd08223	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	161	cd06628	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	157	cd06630	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	164	cd08220	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	159	cd08222	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154	cd08218	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	159	cd06651	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	153	cd05616	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	153	cd05615	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	159	cd05587	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd05605	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	170_G	cd05613	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	158	cd05583	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd08528	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	153	cd07860	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	160	cd07863	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05045	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	163	cd06629	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	156	cd07853	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	243	cd06606	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd08225	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	199	cd07834	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd05632	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	157	cd06631	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	213	cd08215	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	167	cd06624	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	216	cd05057	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	282	cd05054	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	233	cd05103	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	231	cd05102	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd06639	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	169_G	cd06659	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	292	cd05055	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd06636	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	156	cd07871	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	159_G	cd08224	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	157	cd07872	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	198	cd05043	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	159	cd06653	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	163	cd07849	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	156	cd07873	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd06652	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	169	cd06648	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd05094	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd05097	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	194	cd05095	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	220	cd05096	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	218	cd05051	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	239	cd05046	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd05050	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	173	cd05093	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd05049	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	159	cd06611	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05048	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	161	cd05063	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	160	cd05064	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	160	cd06643	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd05090	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd05091	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05092	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	552	smart00220	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	275	cd05106	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	168	cd06654	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	172_G	cd07877	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	168	cd06607	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd05101	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	167	cd06655	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	169	cd06657	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd06635	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd07865	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	161	cd06644	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	170	cd06618	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	171	cd06658	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd07854	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175_G	cd07838	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd07835	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154_G	cd05059	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	281	pfam00069	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	229	cd07830	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	328	pfam07714	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	467	smart00219	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	637	smart00221	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd05035	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05075	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	166	cd05074	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	152	cd05589	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	157	cd05584	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	172	cd06632	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd05099	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd05053	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	162	cd05108	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd05100	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd06638	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	167_G	cd07843	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd05098	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	162	cd05111	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	164	cd05109	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd07866	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	166	cd06616	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd05088	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	161	cd05080	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	159	cd05065	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	195	cd05033	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	160	cd05066	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd05038	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	163	cd05079	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	162	cd05081	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	162	cd05110	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	152_G	cd05114	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	153_G	cd05113	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	152_G	cd05112	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	158	cd07870	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	171	cd07864	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd05071	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd05056	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd05069	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	173	cd05061	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	217	cd05032	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	164	cd06637	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05036	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	172	cd05062	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	169	cd05089	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	156_G	cd05052	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	156	cd05073	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	162	cd05034	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	157_G	cd05148	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	158_G	cd05039	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd05067	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd05082	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	151_G	cd05083	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd05070	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	156	cd05072	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	160	cd05068	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd07840	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	200_G	cd07829	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155_G	cd06626	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	162	cd07852	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154	cd06642	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154	cd06640	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	156	cd07844	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154	cd06641	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	156	cd06613	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	196	cd06608	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	168	cd06612	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	205	cd06614	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd07845	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd07848	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154_G	cd08229	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	170	cd06605	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	171	cd07837	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154	cd05612	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	202	cd06623	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	156	cd06617	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154	cd07839	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	724	COG0515	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	157	cd07856	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd06609	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	170	cd06619	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154_G	cd08228	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	156	cd07861	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	159	cd07862	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd07836	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	167	cd06622	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	159	cd08529	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	172	cd06621	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	269	cd05581	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	153	cd06615	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	166	cd06610	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	207	cd05580	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	159	cd07847	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd07851	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	170_G	cd07878	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	172	cd07850	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	smart00750	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	156	cd05060	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	149	cd05116	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	149	cd05594	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	163	cd05078	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	162_G	cd05077	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd05037	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174_G	cd05076	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	373	cd00192	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	147	cd05588	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	147	cd05591	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	147	cd05571	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	146_G	cd05085	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	147	cd05084	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	162	cd05040	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	149	cd05041	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	170	cd05044	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	162	cd05118	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	149	cd05582	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	149	cd05570	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	148	cd05619	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	164	cd05592	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	163	cd05620	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	224	cd08217	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	158	cd05058	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	156	cd05042	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	158	cd05087	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	153	cd05086	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	295	cd05107	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	277	cd05104	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	293	cd05105	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	167	cd06656	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	167	cd06647	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd07833	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	159	cd06625	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	263	cd07842	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	164	cd06917	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154	cd07846	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155_G	cd07831	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	159	cd06646	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	159	cd06645	NULL
2263	222144235	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	168	cd06634	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	195	cd07843	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	205_G	cd06626	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	228	cd07829	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	236	cd07840	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	227	cd06608	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd06613	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd07844	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd06612	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd06640	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd06641	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd06642	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd07831	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd07846	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	222	cd07833	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd06917	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd06625	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	290	cd07842	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	198	cd07845	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	228	cd06614	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	192	cd06618	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	205	cd07865	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd06644	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	198	cd06635	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd06655	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	213	cd05101	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd06607	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	743	cd05123	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd05047	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	171	cd05608	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	168	cd05607	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	172	cd05115	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	634	cd00180	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	245	cd05572	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd08221	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	717	cd05579	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd08224	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd07873	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd07872	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	207	cd06652	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	199	cd07849	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	221	cd05043	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd07871	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd06653	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	192	cd06658	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd07878	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	208	cd07851	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	195	cd07850	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd06646	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd06645	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	318	cd05107	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	316	cd05105	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	300	cd05104	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	191	cd07857	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	214	cd05122	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd05583	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd07853	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	290	cd06606	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd08225	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	197	cd08528	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd07863	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd06629	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	197	cd07832	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05578	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd08223	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd06628	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd06630	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd08219	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05615	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05616	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05587	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05605	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd08220	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd08222	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd08218	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd06651	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	261	cd07834	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd05045	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd07860	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	212	cd07841	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	217	cd06627	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd08530	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd06631	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	242	cd08215	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05614	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	239	cd05057	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	305	cd05054	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	256	cd05103	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	254	cd05102	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd06624	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	214	cd06639	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	731	smart00220	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	170	cd05594	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	170	cd05590	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	170	cd05591	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd05060	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	172	cd05116	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05078	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd05077	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	199	cd05037	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	194	cd05076	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	405	cd00192	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	170	cd05588	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	170	cd05617	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	172	cd05582	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd05058	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd05042	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05087	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd05086	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd05592	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd05118	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	245	cd08217	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	172	cd05570	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	169	cd05593	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	170	cd05571	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	169	cd05595	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	170	cd05619	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd05620	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	169	cd05085	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	170	cd05084	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd05040	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	172	cd05041	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd05044	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	298	cd05106	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	191	cd06659	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	200	cd06636	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	315	cd05055	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	196	cd05093	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	206	cd05094	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	198	cd05092	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd06648	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd05048	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd05063	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd05064	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	200	cd05090	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	200	cd05091	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd06643	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	208	cd05049	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd06611	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	207	cd05097	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	217	cd05095	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	243	cd05096	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	246	cd05051	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	261	cd05046	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	209	cd05050	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd06634	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd07880	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd06656	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd06647	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	191	cd07877	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd06654	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd05080	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05114	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd05113	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05112	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd05111	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd05109	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	224	cd07866	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd05110	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd05065	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	219	cd05033	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd05066	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	209	cd05038	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd05079	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd05081	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd06616	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	197	cd05088	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	216	cd05098	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	121	smart00750	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05589	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd05059	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	326	pfam00069	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	250	cd07830	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	359	pfam07714	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	563	smart00219	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	199	cd05035	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd05075	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd05074	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	202	cd07835	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	223	cd07838	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	204	cd07854	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	782	smart00221	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd07856	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd08529	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	411	cd05581	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	228	cd06623	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	811	COG0515	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd08229	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd06605	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	199	cd06622	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	172	cd05612	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd07862	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd08228	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd07839	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd06609	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd06619	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd06615	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd06621	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	235	cd05580	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	194	cd07837	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd07847	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd07836	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd06617	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	196	cd06610	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	204	cd07848	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd07861	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	226	cd05053	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	210	cd05099	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	210	cd05100	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd06638	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd05108	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd05071	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	192	cd05089	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd05069	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd05052	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	195	cd07864	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd05073	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd05034	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05148	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05039	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd05067	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	173	cd05082	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	171	cd05083	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd05070	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd05072	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd05068	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd07870	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd07858	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	240	cd05032	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd06637	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	198	cd05036	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	195	cd05062	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	213	cd05056	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	196	cd05061	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	202	cd07852	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd05584	NULL
2263	222144233	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	196	cd06632	NULL
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	94	cd07843	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	94	cd06618	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	89	cd06644	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	92	cd07865	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	90	cd07852	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	111	cd06639	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	121	cd05105	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	121	cd05107	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	119	cd05104	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	94	cd07880	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	96	cd07850	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	91	cd07878	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	110	cd07851	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	99	cd06632	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd05584	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	110	cd06614	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd07845	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd06646	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd06645	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	95	cd06607	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	96	cd06655	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	101	cd05101	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	98	cd06659	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	99	cd06658	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	104	cd05098	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	91	cd06612	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd06640	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd06641	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd06642	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	119	cd06608	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd06613	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd07844	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	98	cd05099	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	100	cd06638	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd05108	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	98	cd05053	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	98	cd05100	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	98	cd08528	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd08219	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	123	cd07834	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd08223	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd06628	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd06630	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd05045	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	95	cd07841	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd06627	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd08530	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd07860	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd08220	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd08222	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd08218	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd06651	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd05614	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	cd06606	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd08225	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd06631	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	106	cd08215	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	104	cd05122	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd05615	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd05616	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd05587	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	92	cd07832	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd06629	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05605	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	90	cd07863	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05578	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd05583	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd07853	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	74	cd07857	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd06643	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05092	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	90	cd05049	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd06611	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	99	cd05097	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	102	cd05095	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	99	cd05096	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	122	cd05051	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	148	cd05046	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd05050	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05090	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd05091	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	96	cd06648	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05093	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05094	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	89	cd05048	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05063	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd05064	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	303	smart00220	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	97	cd06654	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	93	cd07877	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	136	pfam00069	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	120	cd07830	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	131	pfam07714	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	244	smart00219	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05059	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd07854	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	104	cd07838	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	372	smart00221	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd05589	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	97	cd05035	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd05075	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05074	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd07835	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	cd07858	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05069	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd05073	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd05034	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd05148	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd05039	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05067	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05082	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd05083	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05070	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd05072	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd05068	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	89	cd05061	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05071	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	115	cd05056	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd07864	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	122	cd05032	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	89	cd06637	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	89	cd05036	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	89	cd05062	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd05089	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd07870	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd05052	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	95	cd06634	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	74	cd05115	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	247	cd00180	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	122	cd05572	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	cd05579	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	73	cd05608	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	73	cd05607	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	114	cd05123	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	76	cd05047	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd08221	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	90	cd06624	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	92	cd05054	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	92	cd05103	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	92	cd05102	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	138	cd05057	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd08228	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd06617	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	90	cd07856	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd08229	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd06605	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	129	cd05580	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	428	COG0515	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd06621	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd07839	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	95	cd06609	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	100	cd06619	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd06615	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	109	cd07848	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd07861	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	93	cd07837	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd07847	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd07836	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	89	cd07862	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd06622	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd08529	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd06610	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd05612	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	104	cd06623	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	132	cd05581	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd05088	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05114	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05113	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05112	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd05080	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd05111	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd05109	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd07866	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	90	cd06616	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd05110	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd05065	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	109	cd05033	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd05066	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	98	cd05038	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd05079	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05081	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	123	cd05106	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	105	cd06635	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	96	cd06656	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	96	cd06647	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd06625	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd07842	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd07831	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd06917	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd07846	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	102	cd07833	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd06626	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	107	cd07829	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	123	cd07840	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	99	cd06636	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	121	cd05055	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	76	cd05619	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	76	cd05620	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd05058	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd05042	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	cd05087	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	cd05086	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd08217	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	76	cd05588	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	76	cd05617	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05060	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	cd05116	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05078	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd05077	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	96	cd05037	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	96	cd05076	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	142	cd00192	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	76	cd05592	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	73	cd05085	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	73	cd05084	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05040	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	74	cd05041	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05044	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd05570	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	cd05593	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	cd05571	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	cd05595	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	cd05594	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	76	cd05590	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	76	cd05591	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd05582	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd05118	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	77	cd07849	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	112	cd05043	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd06652	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd08224	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd07871	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd07872	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd06653	221316639,NP_000132
2263	120049	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd07873	221316639,NP_000132
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd07846	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	239	cd07833	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd06625	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	295	cd07842	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd07831	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd06917	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	664	cd00180	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	250	cd05572	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	791	cd05123	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd05115	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd08221	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	723	cd05579	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd05047	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd05608	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd05607	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd07843	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	194	cd07878	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	215	cd07851	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	200	cd07850	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	205	cd05090	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	205	cd05091	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd06643	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd05092	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	195	cd06648	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	213	cd05049	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd06611	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	208	cd05048	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd05063	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd05064	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	212	cd05097	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	222	cd05095	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	248	cd05096	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	251	cd05051	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	266	cd05046	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	214	cd05050	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	201	cd05093	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	211	cd05094	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd06635	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	210	cd07865	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	194	cd06644	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	202	cd06618	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	209	cd06626	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	234	cd07829	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	279	cd07840	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	208	cd06638	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd05108	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	231	cd05053	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	215	cd05100	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	215	cd05099	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd05111	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	197	cd06616	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd05110	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	202	cd05088	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd05080	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	229	cd07866	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd05065	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	224	cd05033	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd05066	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	217	cd05038	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	191	cd05079	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd05081	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05114	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd05113	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05112	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd05109	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	197	cd06658	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	194	cd06656	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	194	cd06647	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	252	cd08217	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd05058	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	192	cd05042	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd05087	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd05086	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	192	cd05118	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05594	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05590	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05591	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05619	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd05620	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd05570	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd05593	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05571	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd05595	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd05060	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd05116	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05588	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05617	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd05078	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd05077	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	210	cd05037	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	201	cd05076	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	417	cd00192	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	191	cd05592	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd05085	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05084	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	192	cd05040	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd05041	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	198	cd05044	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd05582	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	212	cd06652	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	226	cd05043	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd07871	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd06653	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	204	cd07849	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd08224	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd07873	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd07872	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	194	cd06655	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd06607	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	218	cd05101	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	221	cd05098	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	219	cd06639	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	321	cd05105	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	305	cd05104	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	323	cd05107	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	205	cd06636	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	320	cd05055	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	195	cd06654	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	197	cd07877	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	233	cd06614	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd07845	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd06631	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	248	cd08215	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05605	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	202	cd07832	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd05614	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd08219	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd07860	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	202	cd08528	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd08220	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd08222	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd08218	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd06651	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	224	cd05122	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	217	cd07841	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	224	cd06627	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd08530	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	208	cd05045	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd07863	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	325	cd06606	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd08225	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	268	cd07834	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	197	cd07857	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd05578	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05615	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05616	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd05587	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd05583	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd08223	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	195	cd06628	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd06630	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	195	cd06629	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd07853	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd07844	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	199	cd06612	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd06613	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd06640	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd06641	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd06642	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	232	cd06608	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	162	smart00750	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	195	cd07880	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd06646	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd06645	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd06634	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	228	cd07838	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	331	pfam00069	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	255	cd07830	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	376	pfam07714	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	568	smart00219	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	207	cd07835	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	204	cd05035	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	208	cd05075	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	194	cd05074	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05589	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd05059	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	210	cd07854	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	833	smart00221	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	303	cd05106	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	761	smart00220	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	208	cd07852	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	205	cd06632	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd05584	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	244	cd05057	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	195	cd06624	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	310	cd05054	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	261	cd05103	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	259	cd05102	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd06610	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd08228	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd05612	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd07856	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd08229	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd06605	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	199	cd07837	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd07847	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd07836	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	204	cd06622	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd07839	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	210	cd06609	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd06619	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd06615	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd08529	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd06617	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	430	cd05581	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	871	COG0515	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	242	cd05580	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	238	cd06623	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	209	cd07848	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd07861	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd06621	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd07862	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	196	cd06659	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd05069	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd05073	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd05034	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd05148	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd05039	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd05067	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd05082	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd05083	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd05070	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd05072	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd05068	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	200	cd07864	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd07858	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd05071	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd07870	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	197	cd05089	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd05052	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	245	cd05032	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	195	cd06637	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd05036	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	200	cd05062	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	218	cd05056	NULL
2263	222144241	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	201	cd05061	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	222	cd05122	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd08220	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd08222	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd08218	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd06651	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd07863	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd07853	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd06631	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	246	cd08215	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd05614	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd05615	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd05616	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd05587	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd08223	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd06628	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd06630	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	215	cd07841	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	222	cd06627	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd08530	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	200	cd08528	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd08219	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	195	cd07857	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd06629	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd05578	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	206	cd05045	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd07860	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd05605	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	323	cd06606	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd08225	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd05583	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	200	cd07832	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	266	cd07834	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd05078	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd05077	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	208	cd05037	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	199	cd05076	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	415	cd00192	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05582	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	250	cd08217	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	173	cd05594	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	173	cd05590	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	173	cd05591	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd05118	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	173	cd05619	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd05620	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	173	cd05588	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	173	cd05617	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	172	cd05085	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	173	cd05084	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd05040	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05041	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	196	cd05044	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd05058	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd05042	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd05087	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd05086	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05570	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	172	cd05593	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	173	cd05571	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	172	cd05595	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd05592	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd05060	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05116	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	191	cd06634	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd06624	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	242	cd05057	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	308	cd05054	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	259	cd05103	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	257	cd05102	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	301	cd05106	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	213	cd05099	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	206	cd06638	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd05108	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	213	cd05100	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	229	cd05053	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	758	smart00220	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05059	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	208	cd07854	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	202	cd05035	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	206	cd05075	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	192	cd05074	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	831	smart00221	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	226	cd07838	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	329	pfam00069	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	253	cd07830	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	374	pfam07714	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	566	smart00219	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd05589	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	205	cd07835	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd07880	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	216	cd05056	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	198	cd07864	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd05052	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	199	cd05061	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd05073	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	191	cd05034	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd05148	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd05039	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05067	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd05082	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd05083	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05070	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd05072	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd05068	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	191	cd07858	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	195	cd05089	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	243	cd05032	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd06637	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	201	cd05036	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	198	cd05062	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd07870	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05069	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05071	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	201	cd06635	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	194	cd06659	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	207	cd06626	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	232	cd07829	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	277	cd07840	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd05114	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd05113	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd05112	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd05109	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	195	cd06616	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd05065	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	222	cd05033	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd05066	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	215	cd05038	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd05079	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd05081	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	227	cd07866	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd05110	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd05080	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	200	cd05088	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd05111	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	198	cd07850	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	192	cd07878	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	213	cd07851	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	217	cd06639	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	201	cd07845	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	231	cd06614	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	303	cd05104	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	319	cd05105	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	321	cd05107	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	219	cd05098	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	192	cd06656	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	192	cd06647	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	210	cd06652	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd07871	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	202	cd07849	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd07873	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd06653	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	224	cd05043	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd07872	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd08224	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	199	cd05093	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	209	cd05094	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	206	cd05048	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd05063	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd05064	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd06648	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd05090	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd05091	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	211	cd05049	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd06611	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	210	cd05097	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	220	cd05095	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	246	cd05096	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	249	cd05051	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	264	cd05046	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	212	cd05050	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	201	cd05092	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd06643	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd06654	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	195	cd07877	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	318	cd05055	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd06636	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	201	cd07843	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd07856	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd07862	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	201	cd06610	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	428	cd05581	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd07839	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	208	cd06609	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	191	cd06619	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd06615	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	202	cd06622	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	207	cd07848	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd07861	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd06621	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd06617	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd08229	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	201	cd06605	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	869	COG0515	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	236	cd06623	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	197	cd07837	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd07847	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd07836	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05612	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd08228	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd08529	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	240	cd05580	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	200	cd06618	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	208	cd07865	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	192	cd06644	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	191	cd06607	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	192	cd06655	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	216	cd05101	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd06632	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd05584	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	206	cd07852	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd07831	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd06625	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	293	cd07842	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	237	cd07833	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd07846	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	191	cd06917	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd06646	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd06645	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd06613	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	230	cd06608	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	197	cd06612	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd07844	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd06640	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd06641	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd06642	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	124	smart00750	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	195	cd06658	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd08221	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd05608	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	172	cd05607	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	721	cd05579	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	789	cd05123	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05115	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	662	cd00180	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	248	cd05572	NULL
2263	222144237	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd05047	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	89	cd07852	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	122	cd05106	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	97	cd06659	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05108	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	97	cd05100	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	97	cd05053	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	97	cd05099	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	99	cd06638	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	120	cd05055	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	98	cd06636	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	95	cd06656	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	95	cd06647	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	94	cd06607	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	95	cd06655	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	100	cd05101	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	cd05047	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	72	cd05608	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	72	cd05607	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	73	cd05115	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	74	cd05579	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd08221	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	246	cd00180	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	121	cd05572	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	113	cd05123	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	103	cd05098	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd06626	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	106	cd07829	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	122	cd07840	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	91	cd07865	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	93	cd06618	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd06644	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	92	cd07877	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	96	cd06654	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	98	cd06658	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	94	cd06634	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05109	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05088	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05080	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	89	cd06616	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd05065	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	108	cd05033	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd05066	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	97	cd05038	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05079	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd05081	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd07866	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05110	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd05114	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd05113	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd05112	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05111	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	93	cd07843	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	302	smart00220	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	120	cd05107	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	120	cd05105	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	118	cd05104	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd08229	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd06605	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd06621	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	89	cd07856	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd08228	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	131	cd05581	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	103	cd06623	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	108	cd07848	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd07861	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd06610	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05612	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd06622	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	92	cd07837	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd07847	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	77	cd07836	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd08529	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	427	COG0515	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	128	cd05580	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd06617	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd07862	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd07839	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	94	cd06609	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	99	cd06619	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd06615	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05071	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd05089	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	121	cd05032	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd06637	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd05036	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd05062	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd07864	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05069	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd05052	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd05061	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	114	cd05056	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd07870	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	74	cd07858	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05073	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05034	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd05148	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd05039	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05067	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05082	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	77	cd05083	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05070	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05072	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05068	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	109	cd07851	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	95	cd07850	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	90	cd07878	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	93	cd07880	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	77	cd08219	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	94	cd07841	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd06627	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd08530	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd08220	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd08222	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd08218	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd06651	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	122	cd07834	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	103	cd05122	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	73	cd07857	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	89	cd07863	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05578	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd06631	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	105	cd08215	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05605	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	97	cd08528	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd05583	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05615	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd05616	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd05587	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd08223	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd06628	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd06630	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd07860	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	154	cd06606	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd08225	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd06629	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd07853	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd05045	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	91	cd07832	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	84	cd05614	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	91	cd05054	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	91	cd05103	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	91	cd05102	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	89	cd06624	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	137	cd05057	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	110	cd06639	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd07872	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd08224	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd07873	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd07871	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd06653	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	111	cd05043	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	76	cd07849	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd06652	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd05093	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd05094	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	95	cd06648	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd06643	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd05092	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	98	cd05097	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	101	cd05095	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	98	cd05096	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	121	cd05051	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	147	cd05046	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05050	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	89	cd05049	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd06611	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd05048	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd05063	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd05064	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd05090	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05091	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	cd05588	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	cd05617	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05060	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	74	cd05116	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	72	cd05085	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	72	cd05084	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd05040	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	73	cd05041	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd05044	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	77	cd05582	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	74	cd05594	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	cd05590	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	cd05591	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	cd05592	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd05078	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd05077	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	95	cd05037	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	95	cd05076	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	141	cd00192	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd05058	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	77	cd05042	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	74	cd05087	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	74	cd05086	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd05118	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	77	cd05570	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	74	cd05593	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	74	cd05571	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	74	cd05595	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd08217	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	cd05619	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	cd05620	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd06646	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd06645	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	371	smart00221	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd07854	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd07835	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	135	pfam00069	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	119	cd07830	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	130	pfam07714	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	243	smart00219	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	96	cd05035	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd05075	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	86	cd05074	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	78	cd05059	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	103	cd07838	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd05589	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	79	cd07831	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	101	cd07833	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	85	cd06625	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd07842	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	80	cd07846	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd06917	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	87	cd07845	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	109	cd06614	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	104	cd06635	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	83	cd05584	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	98	cd06632	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd06613	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	118	cd06608	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	82	cd07844	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	90	cd06612	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd06640	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd06641	NULL
2263	221316638	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	81	cd06642	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	722	cd05579	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd05047	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	790	cd05123	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	663	cd00180	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	249	cd05572	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05608	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	173	cd05607	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd08221	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd05115	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	832	smart00221	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	209	cd07854	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	330	pfam00069	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	254	cd07830	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	375	pfam07714	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	567	smart00219	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd05589	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	206	cd07835	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd05059	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd05035	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	207	cd05075	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd05074	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	227	cd07838	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	220	cd05098	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	207	cd07852	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	244	cd05032	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	194	cd06637	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	202	cd05036	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	199	cd05062	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd05071	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	199	cd07864	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	196	cd05089	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd05052	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	217	cd05056	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd07870	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	192	cd07858	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd05073	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	192	cd05034	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd05148	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd05039	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd05067	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	177	cd05082	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	175	cd05083	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd05070	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd05072	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd05068	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd05069	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	200	cd05061	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	760	smart00220	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd06625	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	294	cd07842	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	192	cd06917	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd07831	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd07846	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	238	cd07833	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	195	cd06659	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	322	cd05107	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	304	cd05104	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	320	cd05105	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	212	cd05049	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd06611	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	211	cd05097	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	221	cd05095	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	247	cd05096	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	250	cd05051	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	265	cd05046	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	213	cd05050	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	194	cd06648	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd06643	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	204	cd05090	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	204	cd05091	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	200	cd05093	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	210	cd05094	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	207	cd05048	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd05063	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd05064	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	202	cd05092	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	196	cd06658	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd05584	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	204	cd06632	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd06640	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd06641	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd06642	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	231	cd06608	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	198	cd06612	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd07844	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd06613	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	194	cd06654	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	196	cd07877	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	192	cd06634	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	204	cd06636	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	319	cd05055	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	202	cd07843	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	202	cd07845	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	232	cd06614	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	214	cd07851	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	199	cd07850	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd07878	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd08229	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	202	cd06605	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	241	cd05580	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	208	cd07848	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	181	cd07861	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd07862	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	202	cd06610	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd08529	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd07856	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	198	cd07837	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd07847	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd07836	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	429	cd05581	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd08228	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd06621	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	237	cd06623	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd06617	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd07839	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	209	cd06609	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	192	cd06619	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd06615	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd05612	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	870	COG0515	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd06622	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd05080	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	196	cd06616	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd05109	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd05065	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	223	cd05033	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd05066	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	216	cd05038	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd05079	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd05081	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	201	cd05088	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd05111	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd05110	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd05114	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd05113	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd05112	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	228	cd07866	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	217	cd05101	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	192	cd06607	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd06655	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd06644	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	209	cd07865	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	201	cd06618	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	218	cd06639	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd05108	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	214	cd05100	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	230	cd05053	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	207	cd06638	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	214	cd05099	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd08223	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	194	cd06628	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd06630	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	178	cd08219	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd05615	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd05616	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd05587	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd08220	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd08222	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd08218	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd06651	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	216	cd07841	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	223	cd06627	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	186	cd08530	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd05583	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	267	cd07834	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	194	cd06629	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd05614	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd06631	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	247	cd08215	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	324	cd06606	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	180	cd08225	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd07860	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	201	cd08528	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd05578	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	188	cd07863	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	184	cd07853	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	196	cd07857	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	201	cd07832	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	223	cd05122	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	207	cd05045	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	179	cd05605	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd06646	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd06645	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	194	cd07880	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	190	cd05592	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	173	cd05085	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd05084	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	191	cd05040	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd05041	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	197	cd05044	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd05060	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd05116	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd05570	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	173	cd05593	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd05571	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	173	cd05595	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd05588	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd05617	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd05619	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	189	cd05620	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	176	cd05582	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	251	cd08217	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd05078	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd05077	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	209	cd05037	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	200	cd05076	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	416	cd00192	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	191	cd05118	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd05594	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd05590	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	174	cd05591	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd05058	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	191	cd05042	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	192	cd05087	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd05086	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	302	cd05106	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	202	cd06635	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	208	cd06626	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	233	cd07829	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	278	cd07840	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	125	smart00750	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	182	cd07871	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	187	cd06653	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	185	cd08224	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd07872	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	183	cd07873	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	203	cd07849	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	211	cd06652	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	225	cd05043	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	194	cd06624	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	243	cd05057	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	309	cd05054	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	260	cd05103	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	258	cd05102	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd06647	NULL
2263	222144239	Disease	p.Glu565Ala	176943.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	193	cd06656	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	28	cd07852	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	83	cd05106	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	59	cd06659	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	58	cd05053	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd05108	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	58	cd05099	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	56	cd06638	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	58	cd05100	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	81	cd05055	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	53	cd06636	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	59	cd06647	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	59	cd06656	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	57	cd06607	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	61	cd05101	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	59	cd06655	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05047	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05115	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	32	cd05608	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	35	cd05579	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd08221	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	72	cd00180	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	81	cd05572	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	63	cd05123	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	64	cd05098	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	64	cd07840	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd07829	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd06626	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	54	cd06618	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd06644	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	52	cd07865	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	60	cd06654	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	60	cd06658	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	56	cd06634	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd05111	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd05109	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	47	cd05080	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd05114	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd05113	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd05112	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd05110	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd05088	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd06616	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd05065	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	70	cd05033	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd05066	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	49	cd05038	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	47	cd05079	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd05081	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	47	cd07866	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd07843	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	109	smart00220	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	81	cd05107	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	81	cd05105	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	79	cd05104	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd08229	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd06605	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd07847	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd08529	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd06621	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	53	cd06609	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43_G	cd08228	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	61	cd06619	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	87	cd05581	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	39	cd07861	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	39	cd07836	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd06622	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd06615	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd07862	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd07839	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd05612	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd06623	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd06617	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd06610	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	89	cd05580	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd07837	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05071	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	77	cd05056	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd05061	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	81	cd05032	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd06637	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd05036	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd05062	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd07864	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05069	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd05052	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05073	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43_G	cd05034	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd05148	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05039	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05067	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd05082	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd05083	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05070	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05072	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05068	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd05089	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	62	cd07851	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	58	cd08528	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	39	cd08219	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd08223	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	49	cd06628	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd06630	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd07841	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd06627	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd08530	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd08220	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd08222	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd08218	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd06651	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd06629	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	102	cd06606	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd08225	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05045	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd07832	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	54	cd05122	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd07863	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd07860	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	39	cd05605	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd05587	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd07857	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	39	cd05615	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd05578	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd05616	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd06631	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	58	cd08215	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	56	cd07834	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd05583	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	51	cd05054	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	51	cd05103	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	51	cd05102	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd06624	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	99	cd05057	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	65	cd06639	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd07872	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd08224	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd07873	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd07871	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd07849	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd06653	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	63	cd05043	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd06652	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	52_G	cd06648	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd05094	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd05092	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	60	cd05097	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	63	cd05095	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	60	cd05096	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	80	cd05051	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	109	cd05046	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	49	cd05050	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd05093	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd06643	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	49	cd05049	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd06611	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd05048	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd05063	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	47	cd05064	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd05090	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd05091	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd05060	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05116	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05058	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	39	cd05042	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05087	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05086	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	39	cd05078	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05077	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	58	cd05037	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	56	cd05076	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	81	cd00192	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05570	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37	cd05582	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	38	cd05118	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	34	cd05085	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	34	cd05084	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	38	cd05040	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	34	cd05041	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd05044	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd08217	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05592	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05619	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd06646	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd06645	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd05059	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	189	smart00221	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd07835	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd07854	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	39	cd05589	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	49	pfam00069	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	71	cd07830	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	69	pfam07714	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	smart00219	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	52	cd05035	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd05075	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd05074	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd07838	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd07846	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	38	cd07831	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	60	cd07833	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd06625	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	130	cd07842	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd06917	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	69	cd06614	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd07845	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	66	cd06635	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd05584	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd06632	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd06642	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd06641	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd06640	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd06613	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	70	cd06608	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd07844	NULL
2263	222144231	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd06612	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	119	cd08228	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	123	cd06621	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	119	cd08529	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	131	cd07837	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd07861	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd07836	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	127	cd06622	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd06615	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	123	cd07862	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd06609	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	229	cd05581	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	129	cd06619	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	125	cd06610	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	166	cd05580	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	112	cd07839	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd05612	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd06623	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	117	cd06617	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	113	cd07847	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	119	cd08229	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	130	cd06605	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	134	cd06636	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	252	cd05055	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	163	cd06614	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	134	cd07845	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd06608	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd06613	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	117	cd07844	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd06642	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd06641	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd06640	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	128	cd06612	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	117	cd05052	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	132	cd05089	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	131	cd07864	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd05069	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	133	cd05061	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd05056	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd05073	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd05034	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	118	cd05148	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	119	cd05039	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd05067	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd05082	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	113	cd05083	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd05070	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd05072	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	118	cd05068	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	177	cd05032	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	124	cd06637	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	131	cd05036	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	132	cd05062	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd05071	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	122	cd07852	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd07851	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	129	cd06654	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	130	cd06659	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	119	cd06646	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	119	cd06645	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd06638	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd05100	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	122	cd05108	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd05099	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	163	cd05053	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	381	smart00220	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	128	cd06647	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	128	cd06656	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	128	cd06607	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	128	cd06655	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd05101	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	128	cd07832	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	123	cd08220	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	120	cd08222	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd08218	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	119	cd06651	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd07834	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	193	cd06606	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd08225	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	124	cd07863	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	113	cd07860	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd05605	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	119	cd05587	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	122	cd07857	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd05045	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	135	cd08528	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05122	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	118	cd05583	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	117	cd06631	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd08215	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	130	cd07841	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	120	cd06627	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	119	cd08530	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd05615	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd05578	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd05616	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	123	cd06629	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	113	cd08219	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd08223	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	121	cd06628	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd06630	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	162	cd07840	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	153	cd07829	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd06626	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	131	cd07843	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	128	cd06634	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	135	cd05092	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05090	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05091	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd05048	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	121	cd05063	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	120	cd05064	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	129	cd06648	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd05094	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	133	cd05093	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd06643	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd05049	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	118	cd06611	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd05097	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	154	cd05095	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	169	cd05096	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	174	cd05051	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	199	cd05046	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05050	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	241	cd05054	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	193	cd05103	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	191	cd05102	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	174	cd05057	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	126	cd06624	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd07831	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd07846	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	123	cd06917	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	135	cd07833	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	119	cd06625	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	217	cd07842	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	118	cd05058	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd05042	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	118	cd05087	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	113	cd05086	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	109	cd05592	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	109	cd05619	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	111	cd05570	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	111	cd05582	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	122	cd05118	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd05078	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	118	cd05077	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	132	cd05037	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	130	cd05076	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	320	cd00192	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	125	cd08217	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	107	cd05085	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	107	cd05084	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	117	cd05040	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	109	cd05041	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	123	cd05044	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd05060	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	108	cd05116	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd06635	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	235	cd05106	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	628	cd05123	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd08221	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	108	cd05115	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	110	cd05608	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	343	cd00180	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	180	cd05572	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	109	cd05579	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	125	cd05047	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	113	cd05114	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd05113	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	113	cd05112	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd07866	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	127	cd06616	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	119	cd05065	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05033	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	119	cd05066	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd05038	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	122	cd05079	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	121	cd05081	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	122	cd05111	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	122	cd05109	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	122	cd05110	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05088	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	120	cd05080	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	117	cd07873	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd06652	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	117	cd07872	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd07871	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	123	cd07849	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	155	cd05043	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	120	cd08224	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	119	cd06653	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	153	cd05098	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	132	cd06632	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	117	cd05584	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	131	cd06658	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	30	smart00750	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd05059	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd07838	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd05035	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd05075	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	126	cd05074	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	193	pfam00069	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	165	cd07830	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	267	pfam07714	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	397	smart00219	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd07835	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd07854	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd05589	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	474	smart00221	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd07865	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	131	cd06618	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	123	cd06644	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	253	cd05105	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	237	cd05104	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	255	cd05107	NULL
2263	222144244	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd06639	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	111	cd05608	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd05577	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	109	cd05607	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	110	cd05579	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd08221	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	126	cd05047	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	629	cd05123	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	109	cd05115	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	344	cd00180	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	181	cd05572	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd08219	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	129	cd07832	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	123	cd07857	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd05122	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	131	cd07841	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	121	cd06627	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	120	cd08530	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd05578	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd08223	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	122	cd06628	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	117	cd06630	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	124	cd08220	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	121	cd08222	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd08218	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	120	cd06651	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd05616	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd05615	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	120	cd05587	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd05605	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	132_G	cd05613	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	119	cd05583	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd08528	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd07860	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	125	cd07863	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd05045	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	124	cd06629	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	118	cd07853	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	194	cd06606	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd08225	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd07834	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd05632	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	118	cd06631	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd08215	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	127	cd06624	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	175	cd05057	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	242	cd05054	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	194	cd05103	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	192	cd05102	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd06639	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	131	cd06659	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	253	cd05055	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	135	cd06636	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	117	cd07871	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	121	cd08224	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	118	cd07872	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd05043	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	120	cd06653	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	124	cd07849	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	118	cd07873	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd06652	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	130	cd06648	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05094	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd05097	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	155	cd05095	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	170	cd05096	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	175	cd05051	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	200	cd05046	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd05050	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	134	cd05093	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd05049	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	119	cd06611	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd05048	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	122	cd05063	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	121	cd05064	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	117	cd06643	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05090	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05091	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd05092	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	382	smart00220	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	236	cd05106	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	130	cd06654	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	134	cd07877	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	129	cd06607	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd05101	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	129	cd06655	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	130	cd06657	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd06635	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd07865	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	124	cd06644	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	132	cd06618	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	132	cd06658	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd07854	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd07838	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd07835	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd05059	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	194	pfam00069	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	166	cd07830	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	268	pfam07714	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	398	smart00219	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	475	smart00221	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05035	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd05075	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	127	cd05074	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd05589	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	118	cd05584	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	133	cd06632	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd05099	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	164	cd05053	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	123	cd05108	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd05100	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd06638	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	132	cd07843	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	154	cd05098	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	123	cd05111	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	123	cd05109	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd07866	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	128	cd06616	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05088	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	121	cd05080	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	120	cd05065	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd05033	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	120	cd05066	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05038	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	123	cd05079	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	122	cd05081	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	123	cd05110	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd05114	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd05113	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd05112	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	117	cd07870	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	132	cd07864	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd05071	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd05056	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd05069	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	134	cd05061	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	178	cd05032	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	125	cd06637	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	132	cd05036	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	133	cd05062	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	133	cd05089	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	118	cd05052	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	117	cd05073	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	117	cd05034	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	119	cd05148	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	120	cd05039	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd05067	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd05082	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd05083	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd05070	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	117	cd05072	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	119	cd05068	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	163	cd07840	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	154	cd07829	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd06626	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	123	cd07852	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd06642	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd06640	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	118	cd07844	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd06641	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	117	cd06613	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd06608	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	129	cd06612	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	164	cd06614	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	135	cd07845	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd07848	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	120	cd08229	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	131	cd06605	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	132	cd07837	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd05612	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd06623	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	118	cd06617	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	113	cd07839	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	497	COG0515	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	122	cd07856	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd06609	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	130	cd06619	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	120	cd08228	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd07861	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	124	cd07862	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	117	cd07836	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	128	cd06622	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	120	cd08529	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	124	cd06621	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	230	cd05581	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd06615	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	126	cd06610	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	167	cd05580	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd07847	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd07851	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	132	cd07878	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	134	cd07850	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	31	smart00750	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd05060	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	109	cd05116	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	109	cd05594	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	116	cd05078	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	119	cd05077	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	133	cd05037	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	131	cd05076	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	321	cd00192	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	110	cd05588	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	110	cd05591	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	109	cd05571	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	108	cd05085	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	108	cd05084	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	118	cd05040	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	110	cd05041	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	124	cd05044	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	123	cd05118	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	112	cd05582	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	112	cd05570	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	110	cd05619	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	110	cd05592	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	123	cd05620	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	126	cd08217	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	119	cd05058	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	117	cd05042	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	119	cd05087	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	114	cd05086	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	256	cd05107	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	238	cd05104	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	254	cd05105	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	129	cd06656	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	129	cd06647	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd07833	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	120	cd06625	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	218	cd07842	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	124	cd06917	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd07846	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	115	cd07831	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	120	cd06646	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	120	cd06645	NULL
2263	222144235	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	129	cd06634	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd07843	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd06626	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	187	cd07829	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	187	cd07840	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	180	cd06608	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd06613	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd07844	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd06612	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd06640	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd06641	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd06642	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd07831	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd07846	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	164	cd07833	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd06917	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd06625	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	247	cd07842	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	158	cd07845	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	189	cd06614	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd06618	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd07865	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd06644	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	162	cd06635	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd06655	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	174	cd05101	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd06607	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	653	cd05123	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd05047	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	134	cd05608	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	132	cd05607	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	132	cd05115	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	437	cd00180	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	205	cd05572	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd08221	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	133	cd05579	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd08224	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd07873	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd07872	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	167	cd06652	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd07849	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	182	cd05043	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd07871	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd06653	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	155	cd06658	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	155	cd07878	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	171	cd07851	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd07850	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd06646	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd06645	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	279	cd05107	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	277	cd05105	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	261	cd05104	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd07857	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	172	cd05122	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05583	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd07853	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	227	cd06606	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd08225	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	160	cd08528	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd07863	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd06629	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd07832	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05578	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd08223	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd06628	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd06630	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd08219	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05615	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05616	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05587	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd05605	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd08220	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd08222	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd08218	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd06651	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	183	cd07834	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	164	cd05045	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd07860	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	154	cd07841	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd06627	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd08530	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd06631	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	197	cd08215	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05614	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	199	cd05057	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	265	cd05054	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	217	cd05103	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	215	cd05102	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd06624	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	172	cd06639	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	499	smart00220	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	133	cd05594	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	133	cd05590	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	133	cd05591	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd05060	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	132	cd05116	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd05078	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05077	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd05037	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	154	cd05076	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	357	cd00192	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	133	cd05588	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	133	cd05617	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	135	cd05582	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05058	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd05042	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05087	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05086	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd05592	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05118	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	208	cd08217	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	135	cd05570	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	132	cd05593	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	133	cd05571	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	132	cd05595	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	133	cd05619	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd05620	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	131	cd05085	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	131	cd05084	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd05040	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	133	cd05041	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd05044	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	259	cd05106	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	154	cd06659	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	158	cd06636	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	276	cd05055	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd05093	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	160	cd05094	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	159	cd05092	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	153	cd06648	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	164	cd05048	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd05063	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd05064	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd05090	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd05091	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd06643	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	169	cd05049	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd06611	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	168	cd05097	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	178	cd05095	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	204	cd05096	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	202	cd05051	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	223	cd05046	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	170	cd05050	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd06634	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	155	cd07880	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd06656	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd06647	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd07877	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	153	cd06654	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd05080	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05114	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05113	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05112	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05111	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05109	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	168	cd07866	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05110	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05065	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	175	cd05033	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05066	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	169	cd05038	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05079	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd05081	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd06616	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd05088	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	177	cd05098	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	67	smart00750	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05589	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd05059	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	229	pfam00069	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	213	cd07830	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	311	pfam07714	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	442	smart00219	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	160	cd05035	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	164	cd05075	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd05074	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	164	cd07835	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	164	cd07838	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	164	cd07854	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	592	smart00221	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd07856	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd08529	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	253	cd05581	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	186	cd06623	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	594	COG0515	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd08229	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd06605	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	153	cd06622	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05612	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd07862	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd08228	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd07839	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd06609	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	153	cd06619	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd06615	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd06621	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	191	cd05580	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd07837	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd07847	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd07836	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd06617	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd06610	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	166	cd07848	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd07861	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	187	cd05053	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	171	cd05099	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	171	cd05100	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd06638	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05108	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd05071	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd05089	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd05069	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd05052	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	155	cd07864	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd05073	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd05034	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05148	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05039	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd05067	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd05082	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05083	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd05070	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd05072	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05068	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd07870	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd07858	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	201	cd05032	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd06637	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	158	cd05036	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd05062	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	173	cd05056	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd05061	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd07852	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd05584	NULL
2263	222144233	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd06632	NULL
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd07843	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	55	cd06618	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	51	cd06644	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	53	cd07865	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	29	cd07852	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	66	cd06639	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	82	cd05105	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	82	cd05107	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	80	cd05104	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	56	cd07880	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	57	cd07850	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	55	cd07878	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	63	cd07851	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	51	cd06632	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd05584	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	70	cd06614	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd07845	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48_G	cd06646	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48_G	cd06645	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	58	cd06607	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	60	cd06655	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	62	cd05101	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	60	cd06659	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	61	cd06658	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	65	cd05098	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	51	cd06612	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd06640	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd06641	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd06642	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	71	cd06608	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd06613	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd07844	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	59	cd05099	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	57	cd06638	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	51	cd05108	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	59	cd05053	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	59	cd05100	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	59	cd08528	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd08219	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	62	cd07834	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd08223	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd06628	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd06630	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd05045	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd07841	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd06627	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd08530	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd07860	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd08220	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd08222	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd08218	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd06651	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd05614	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	103	cd06606	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd08225	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd06631	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	59	cd08215	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	57	cd05122	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd05615	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd05616	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd05587	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd07832	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	49	cd06629	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd05605	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd07863	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd05578	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd05583	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	35	cd07853	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd07857	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd06643	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	49	cd05092	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd05049	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd06611	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	61	cd05097	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	64	cd05095	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	61	cd05096	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	83	cd05051	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	110	cd05046	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd05050	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	49	cd05090	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	49	cd05091	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	52_G	cd06648	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	49	cd05093	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	49	cd05094	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	51	cd05048	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	49	cd05063	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd05064	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	110	smart00220	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	61	cd06654	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	58	cd07877	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	pfam00069	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	72	cd07830	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	70	pfam07714	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	smart00219	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd05059	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	47	cd07854	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd07838	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	225	smart00221	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd05589	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	53	cd05035	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd05075	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd05074	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd07835	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	47	cd07858	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd05069	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44_G	cd05073	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43_G	cd05034	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd05148	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd05039	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd05067	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05082	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05083	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd05070	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44_G	cd05072	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd05068	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	51	cd05061	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd05071	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	78	cd05056	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd07864	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	82	cd05032	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd06637	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	51	cd05036	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	51	cd05062	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05089	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd07870	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45_G	cd05052	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	57	cd06634	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37	cd05115	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	73	cd00180	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	84	cd05572	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05579	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	33	cd05608	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	38	cd05607	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	64	cd05123	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37	cd05047	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd08221	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	47	cd06624	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	52	cd05054	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	52	cd05103	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	52	cd05102	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	100	cd05057	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd08228	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd06617	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	51	cd07856	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd08229	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd06605	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	90	cd05580	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	207	COG0515	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd06621	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd07839	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	54	cd06609	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	62	cd06619	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd06615	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	71	cd07848	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd07861	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd07837	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd07847	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd07836	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd07862	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd06622	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	47	cd08529	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd06610	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd05612	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	51	cd06623	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	88	cd05581	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	49	cd05088	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd05114	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd05113	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd05112	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd05080	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	51	cd05111	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	51	cd05109	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd07866	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	51	cd06616	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	51	cd05110	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	47	cd05065	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	71	cd05033	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	47	cd05066	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	52	cd05038	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd05079	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	47	cd05081	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	84	cd05106	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	67	cd06635	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	60	cd06656	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	60	cd06647	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd06625	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	131	cd07842	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	39	cd07831	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd06917	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd07846	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	61	cd07833	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd06626	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd07829	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	65	cd07840	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	54	cd06636	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	82	cd05055	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37	cd05619	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37	cd05620	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd05058	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd05042	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37	cd05087	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37	cd05086	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd08217	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37	cd05588	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37	cd05617	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd05060	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37	cd05116	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd05078	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd05077	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	59	cd05037	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	57	cd05076	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	82	cd00192	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37	cd05592	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	35	cd05085	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	35	cd05084	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd05040	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05041	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd05044	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37	cd05570	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37	cd05593	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37	cd05571	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37_G	cd05595	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37	cd05594	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37	cd05590	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37	cd05591	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	38	cd05582	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd05118	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd07849	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	64	cd05043	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd06652	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd08224	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd07871	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd07872	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd06653	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd07873	221316639,NP_000132
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd07846	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	169	cd07833	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd06625	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	252	cd07842	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd07831	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	153	cd06917	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	442	cd00180	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	210	cd05572	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	658	cd05123	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05115	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd08221	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05579	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	154	cd05047	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd05608	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05607	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd07843	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	160	cd07878	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	176	cd07851	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	162	cd07850	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	166	cd05090	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	166	cd05091	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd06643	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	164	cd05092	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	158	cd06648	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	174	cd05049	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd06611	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	169	cd05048	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd05063	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd05064	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	173	cd05097	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	183	cd05095	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	209	cd05096	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	207	cd05051	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	228	cd05046	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	175	cd05050	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	162	cd05093	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	165	cd05094	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	167	cd06635	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	166	cd07865	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd06644	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd06618	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd06626	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	192	cd07829	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	192	cd07840	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	166	cd06638	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd05108	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	192	cd05053	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	176	cd05100	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	176	cd05099	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd05111	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd06616	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd05110	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	166	cd05088	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd05080	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	173	cd07866	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd05065	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	180	cd05033	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd05066	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	174	cd05038	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd05079	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd05081	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05114	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05113	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05112	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd05109	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	160	cd06658	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd06656	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd06647	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	213	cd08217	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd05058	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd05042	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd05087	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05086	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd05118	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05594	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05590	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05591	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05619	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	153	cd05620	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd05570	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05593	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05571	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05595	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd05060	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05116	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05588	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05617	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd05078	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	154	cd05077	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	169	cd05037	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	166	cd05076	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	362	cd00192	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	153	cd05592	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd05085	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd05084	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd05040	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05041	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	159	cd05044	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd05582	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	172	cd06652	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	187	cd05043	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd07871	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd06653	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd07849	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd08224	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd07873	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd07872	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd06655	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd06607	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	179	cd05101	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	182	cd05098	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	177	cd06639	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	282	cd05105	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	266	cd05104	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	284	cd05107	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	163	cd06636	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	281	cd05055	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	158	cd06654	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	162	cd07877	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	194	cd06614	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	163	cd07845	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd06631	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	202	cd08215	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd05605	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	162	cd07832	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd05614	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd08219	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd07860	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	165	cd08528	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	153	cd08220	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd08222	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd08218	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd06651	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	177	cd05122	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	159	cd07841	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd06627	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd08530	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	169	cd05045	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	153	cd07863	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	232	cd06606	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd08225	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	188	cd07834	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd07857	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05578	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05615	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05616	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd05587	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd05583	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd08223	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd06628	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd06630	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd06629	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd07853	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd07844	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd06612	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd06613	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd06640	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd06641	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd06642	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	185	cd06608	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	72	smart00750	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	160	cd07880	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd06646	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd06645	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd06634	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	169	cd07838	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	253	pfam00069	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	218	cd07830	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	317	pfam07714	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	455	smart00219	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	169	cd07835	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	165	cd05035	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	169	cd05075	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	155	cd05074	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05589	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd05059	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	169	cd07854	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	620	smart00221	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	264	cd05106	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	527	smart00220	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd07852	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd06632	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05584	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	204	cd05057	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd06624	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	270	cd05054	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	222	cd05103	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	220	cd05102	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	154	cd06610	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd08228	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05612	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd07856	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd08229	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd06605	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd07837	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd07847	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd07836	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	158	cd06622	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd07839	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	166	cd06609	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	158	cd06619	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd06615	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd08529	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd06617	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	258	cd05581	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	662	COG0515	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	196	cd05580	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	191	cd06623	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	171	cd07848	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd07861	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd06621	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd07862	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	159	cd06659	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd05069	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd05073	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd05034	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd05148	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd05039	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd05067	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd05082	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05083	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd05070	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd05072	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd05068	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	160	cd07864	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd07858	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd05071	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd07870	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd05089	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05052	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	206	cd05032	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	153	cd06637	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	163	cd05036	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd05062	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	178	cd05056	NULL
2263	222144241	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	162	cd05061	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	175	cd05122	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd08220	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd08222	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd08218	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd06651	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd07863	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd07853	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd06631	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	200	cd08215	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd05614	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd05615	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd05616	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05587	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd08223	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd06628	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd06630	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd07841	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd06627	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd08530	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	163	cd08528	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd08219	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd07857	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd06629	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd05578	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	167	cd05045	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd07860	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05605	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	230	cd06606	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd08225	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd05583	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	160	cd07832	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	186	cd07834	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd05078	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd05077	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	167	cd05037	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	164	cd05076	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	360	cd00192	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05582	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	211	cd08217	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd05594	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd05590	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd05591	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd05118	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd05619	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd05620	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd05588	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd05617	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	134	cd05085	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	134	cd05084	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd05040	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd05041	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd05044	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd05058	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05042	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd05087	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd05086	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05570	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	135	cd05593	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd05571	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	135	cd05595	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd05592	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05060	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	135	cd05116	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	155	cd06634	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	154	cd06624	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	202	cd05057	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	268	cd05054	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	220	cd05103	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	218	cd05102	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	262	cd05106	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	174	cd05099	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	164	cd06638	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd05108	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	174	cd05100	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	190	cd05053	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	508	smart00220	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05059	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	167	cd07854	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	163	cd05035	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	167	cd05075	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	153	cd05074	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	601	smart00221	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	167	cd07838	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	251	pfam00069	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	216	cd07830	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	315	pfam07714	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	453	smart00219	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd05589	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	167	cd07835	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	158	cd07880	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	176	cd05056	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	158	cd07864	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd05052	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	160	cd05061	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05073	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd05034	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd05148	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05039	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05067	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05082	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd05083	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05070	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05072	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd05068	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd07858	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	159	cd05089	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	204	cd05032	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd06637	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd05036	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	159	cd05062	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd07870	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05069	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05071	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	165	cd06635	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd06659	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd06626	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	190	cd07829	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	190	cd07840	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd05114	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd05113	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd05112	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd05109	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	155	cd06616	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05065	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	178	cd05033	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05066	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	172	cd05038	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd05079	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd05081	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	171	cd07866	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd05110	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd05080	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	164	cd05088	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd05111	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	160	cd07850	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	158	cd07878	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	174	cd07851	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	175	cd06639	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd07845	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	192	cd06614	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	264	cd05104	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	280	cd05105	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	282	cd05107	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	180	cd05098	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	155	cd06656	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	155	cd06647	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	170	cd06652	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd07871	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd07849	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd07873	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd06653	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	185	cd05043	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd07872	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd08224	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	160	cd05093	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	163	cd05094	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	167	cd05048	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd05063	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd05064	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd06648	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	164	cd05090	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	164	cd05091	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	172	cd05049	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd06611	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	171	cd05097	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	181	cd05095	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	207	cd05096	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	205	cd05051	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	226	cd05046	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	173	cd05050	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	162	cd05092	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd06643	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd06654	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	160	cd07877	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	279	cd05055	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd06636	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	159	cd07843	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd07856	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd07862	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd06610	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	256	cd05581	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd07839	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	164	cd06609	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd06619	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd06615	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd06622	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	169	cd07848	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd07861	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd06621	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd06617	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd08229	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	159	cd06605	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	660	COG0515	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	189	cd06623	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	159	cd07837	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd07847	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd07836	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd05612	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd08228	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd08529	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	194	cd05580	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	159	cd06618	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	164	cd07865	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd06644	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	155	cd06607	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	155	cd06655	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	177	cd05101	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	159	cd06632	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd05584	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd07852	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd07831	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd06625	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	250	cd07842	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	167	cd07833	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd07846	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd06917	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd06646	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd06645	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd06613	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	183	cd06608	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	155	cd06612	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd07844	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd06640	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd06641	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd06642	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	70	smart00750	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	158	cd06658	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd08221	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05608	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	135	cd05607	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd05579	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	656	cd05123	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	135	cd05115	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	440	cd00180	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	208	cd05572	NULL
2263	222144237	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd05047	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	28	cd07852	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	83	cd05106	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	59	cd06659	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd05108	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	58	cd05100	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	58	cd05053	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	58	cd05099	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	56	cd06638	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	81	cd05055	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	53	cd06636	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	59	cd06656	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	59	cd06647	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	57	cd06607	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	59	cd06655	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	61	cd05101	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05047	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	32	cd05608	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37	cd05607	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05115	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	35	cd05579	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd08221	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	72	cd00180	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	81	cd05572	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	63	cd05123	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	64	cd05098	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd06626	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd07829	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	64	cd07840	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	52	cd07865	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	54	cd06618	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd06644	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	57	cd07877	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	60	cd06654	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	60	cd06658	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	56	cd06634	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd05109	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd05088	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	47	cd05080	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd06616	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd05065	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	70	cd05033	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd05066	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	49	cd05038	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	47	cd05079	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd05081	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	47	cd07866	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd05110	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd05114	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd05113	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd05112	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd05111	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd07843	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	109	smart00220	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	81	cd05107	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	81	cd05105	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	79	cd05104	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd08229	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd06605	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd06621	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd07856	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43_G	cd08228	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	87	cd05581	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd06623	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	70	cd07848	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	39	cd07861	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd06610	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd05612	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd06622	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd07837	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd07847	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	39	cd07836	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd08529	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	206	COG0515	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	89	cd05580	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd06617	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd07862	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd07839	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	53	cd06609	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	61	cd06619	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd06615	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05071	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd05089	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	81	cd05032	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd06637	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd05036	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd05062	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd07864	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05069	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd05052	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd05061	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	77	cd05056	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd07870	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd07858	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05073	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43_G	cd05034	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd05148	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05039	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05067	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd05082	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd05083	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05070	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05072	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05068	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	62	cd07851	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	56	cd07850	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	54	cd07878	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	55	cd07880	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	39	cd08219	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd07841	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd06627	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd08530	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd08220	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd08222	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd08218	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd06651	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	56	cd07834	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	54	cd05122	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd07857	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd07863	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd05578	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd06631	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	58	cd08215	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	39	cd05605	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	58	cd08528	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd05583	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	39	cd05615	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd05616	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd05587	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd08223	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	49	cd06628	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd06630	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd07860	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	102	cd06606	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd08225	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd06629	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	34_G	cd07853	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05045	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd07832	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd05614	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	51	cd05054	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	51	cd05103	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	51	cd05102	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd06624	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	99	cd05057	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	65	cd06639	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd07872	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd08224	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd07873	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd07871	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd06653	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	63	cd05043	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd07849	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd06652	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd05093	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd05094	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	52_G	cd06648	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd06643	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd05092	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	60	cd05097	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	63	cd05095	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	60	cd05096	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	80	cd05051	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	109	cd05046	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	49	cd05050	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	49	cd05049	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd06611	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd05048	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd05063	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	47	cd05064	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd05090	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd05091	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05588	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05617	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd05060	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05116	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	34	cd05085	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	34	cd05084	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	38	cd05040	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	34	cd05041	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd05044	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37	cd05582	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05594	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05590	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05591	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05592	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	39	cd05078	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05077	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	58	cd05037	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	56	cd05076	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	81	cd00192	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd05058	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	39	cd05042	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05087	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05086	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	38	cd05118	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05570	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05593	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05571	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	37_G	cd05595	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd08217	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05619	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	36	cd05620	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd06646	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	48	cd06645	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	189	smart00221	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	46	cd07854	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd07835	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	49	pfam00069	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	71	cd07830	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	69	pfam07714	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	smart00219	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	52	cd05035	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd05075	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd05074	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd05059	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	41	cd07838	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	39	cd05589	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	38	cd07831	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	60	cd07833	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd06625	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	130	cd07842	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd07846	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	40	cd06917	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd07845	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	69	cd06614	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	66	cd06635	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	45	cd05584	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd06632	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	42	cd06613	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	70	cd06608	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	44	cd07844	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	50	cd06612	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd06640	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd06641	NULL
2263	221316638	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	43	cd06642	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05579	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	153	cd05047	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	657	cd05123	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	441	cd00180	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	209	cd05572	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	138	cd05608	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd05607	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd08221	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd05115	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	602	smart00221	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	168	cd07854	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	252	pfam00069	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	217	cd07830	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	316	pfam07714	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	454	smart00219	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05589	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	168	cd07835	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05059	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	164	cd05035	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	168	cd05075	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	154	cd05074	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	168	cd07838	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	181	cd05098	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd07852	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	205	cd05032	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd06637	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	162	cd05036	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	160	cd05062	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05071	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	159	cd07864	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	160	cd05089	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd05052	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	177	cd05056	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd07870	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd07858	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd05073	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd05034	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05148	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd05039	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05067	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05082	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd05083	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05070	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd05072	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05068	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05069	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd05061	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	509	smart00220	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd06625	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	251	cd07842	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd06917	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd07831	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd07846	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	168	cd07833	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	158	cd06659	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	283	cd05107	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	265	cd05104	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	281	cd05105	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	173	cd05049	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd06611	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	172	cd05097	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	182	cd05095	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	208	cd05096	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	206	cd05051	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	227	cd05046	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	174	cd05050	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd06648	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd06643	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	165	cd05090	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	165	cd05091	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd05093	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	164	cd05094	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	168	cd05048	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd05063	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd05064	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	163	cd05092	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	159	cd06658	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd05584	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	160	cd06632	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd06640	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd06641	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd06642	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	184	cd06608	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd06612	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd07844	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd06613	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd06654	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd07877	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd06634	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	162	cd06636	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	280	cd05055	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	160	cd07843	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	162	cd07845	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	193	cd06614	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	175	cd07851	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd07850	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	159	cd07878	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd08229	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	160	cd06605	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	195	cd05580	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	170	cd07848	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd07861	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd07862	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	153	cd06610	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd08529	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd07856	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	160	cd07837	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd07847	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd07836	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	257	cd05581	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd08228	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd06621	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	190	cd06623	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd06617	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	140	cd07839	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	165	cd06609	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd06619	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd06615	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05612	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	661	COG0515	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	157	cd06622	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd05080	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd06616	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd05109	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd05065	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	179	cd05033	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd05066	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	173	cd05038	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd05079	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd05081	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	165	cd05088	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd05111	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd05110	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd05114	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05113	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd05112	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	172	cd07866	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	178	cd05101	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd06607	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd06655	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd06644	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	165	cd07865	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	160	cd06618	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	176	cd06639	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd05108	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	175	cd05100	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	191	cd05053	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	165	cd06638	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	175	cd05099	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd08223	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd06628	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd06630	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd08219	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05615	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05616	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd05587	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd08220	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd08222	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd08218	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd06651	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	158	cd07841	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd06627	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd08530	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05583	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	187	cd07834	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd06629	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05614	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd06631	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	201	cd08215	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	231	cd06606	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd08225	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd07860	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	164	cd08528	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	142	cd05578	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd07863	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd07853	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd07857	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	161	cd07832	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	176	cd05122	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	168	cd05045	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05605	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd06646	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd06645	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	159	cd07880	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd05592	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	135	cd05085	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	135	cd05084	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	149	cd05040	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05041	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	158	cd05044	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	143	cd05060	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd05116	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd05570	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd05593	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05571	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	136	cd05595	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05588	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05617	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05619	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	152	cd05620	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	139	cd05582	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	212	cd08217	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd05078	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	153	cd05077	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	168	cd05037	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	165	cd05076	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	361	cd00192	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	150	cd05118	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05594	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05590	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	137	cd05591	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05058	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd05042	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	146	cd05087	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	141	cd05086	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	263	cd05106	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	166	cd06635	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd06626	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	191	cd07829	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	191	cd07840	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	71	smart00750	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	144	cd07871	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	147	cd06653	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	148	cd08224	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd07872	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	145	cd07873	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	151	cd07849	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	171	cd06652	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	186	cd05043	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	155	cd06624	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	203	cd05057	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	269	cd05054	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	221	cd05103	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	219	cd05102	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd06647	NULL
2263	222144239	Disease	p.Lys526Glu	176943.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	OMIM	156	cd06656	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd07852	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd05106	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	163	cd06659	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	196	cd05053	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd05108	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	180	cd05099	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	170	cd06638	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	180	cd05100	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd05055	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	167	cd06636	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd06647	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd06656	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	76	smart00750	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd06607	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	183	cd05101	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd06655	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	158	cd05047	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd05115	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	143	cd05608	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd05579	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd08221	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	446	cd00180	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	214	cd05572	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	662	cd05123	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	186	cd05098	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	196	cd07840	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	196	cd07829	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd06626	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	165	cd06618	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd06644	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	170	cd07865	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	162	cd06654	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	164	cd06658	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd06634	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd05111	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd05109	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd05080	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd05114	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd05113	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd05112	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd05110	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	170	cd05088	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd06616	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd05065	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	184	cd05033	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd05066	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	178	cd05038	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd05079	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	154	cd05081	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	177	cd07866	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	165	cd07843	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	531	smart00220	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	288	cd05107	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd05105	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd05104	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd08229	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	165	cd06605	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd07847	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd08529	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	160	cd06621	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	170	cd06609	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd08228	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	162	cd06619	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd05581	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd07861	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd07836	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	162	cd06622	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd06615	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd07862	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd07839	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd05612	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	195	cd06623	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd06617	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	158	cd06610	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	200	cd05580	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	165	cd07837	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05071	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	182	cd05056	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	166	cd05061	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	210	cd05032	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd06637	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	167	cd05036	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	165	cd05062	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	164	cd07864	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05069	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd05052	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd05073	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd05034	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd05148	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd05039	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05067	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05082	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd05083	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05070	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd05072	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd05068	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	165	cd05089	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	180	cd07851	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	169	cd08528	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd08219	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd08223	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	154	cd06628	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd06630	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	163	cd07841	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd06627	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd08530	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd08220	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd08222	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd08218	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd06651	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd06629	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd06606	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd08225	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	173	cd05045	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	166	cd07832	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	181	cd05122	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd07863	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd07860	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05605	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd05587	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd07857	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd05615	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd05578	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd05616	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd06631	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	206	cd08215	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	192	cd07834	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd05583	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	274	cd05054	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	226	cd05103	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	224	cd05102	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	160	cd06624	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	208	cd05057	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	181	cd06639	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd07872	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd08224	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd07873	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd07871	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd07849	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd06653	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	191	cd05043	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	176	cd06652	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	162	cd06648	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	169	cd05094	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	168	cd05092	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	177	cd05097	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	187	cd05095	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	213	cd05096	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	211	cd05051	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	232	cd05046	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	179	cd05050	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	166	cd05093	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd06643	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	178	cd05049	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd06611	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	173	cd05048	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	154	cd05063	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd05064	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	170	cd05090	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	170	cd05091	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05060	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd05116	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd05058	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd05042	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd05087	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd05086	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd05078	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	158	cd05077	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	173	cd05037	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	170	cd05076	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	366	cd00192	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd05570	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd05582	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd05118	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	140	cd05085	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	140	cd05084	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	154	cd05040	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd05041	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	163	cd05044	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	217	cd08217	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd05592	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd05619	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd06646	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd06645	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05059	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	624	smart00221	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	173	cd07835	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	173	cd07854	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd05589	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	pfam00069	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	222	cd07830	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	321	pfam07714	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	459	smart00219	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	169	cd05035	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	173	cd05075	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	159	cd05074	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	173	cd07838	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd07846	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd07831	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	173	cd07833	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd06625	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd07842	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd06917	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	198	cd06614	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	167	cd07845	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	171	cd06635	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd05584	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	165	cd06632	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd06642	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd06641	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd06640	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd06613	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	189	cd06608	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd07844	NULL
2263	222144231	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd06612	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd08228	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd06621	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd08529	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd07837	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	233	cd07861	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd07836	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd06622	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	282	cd06615	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd07862	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd06609	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	479	cd05581	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd06619	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd06610	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	299	cd05580	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd07839	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd05612	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	318	cd06623	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd06617	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	281	cd07847	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd08229	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	316	cd06605	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd06636	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	375	cd05055	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	288	cd06614	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	307	cd07845	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	287	cd06608	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd06613	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd07844	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	233	cd06642	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	233	cd06641	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	233	cd06640	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd06612	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05052	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05089	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	287	cd07864	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd05069	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd05061	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272	cd05056	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd05073	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd05034	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272	cd05148	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05039	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd05067	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	232	cd05082	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	230	cd05083	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd05070	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd05072	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd05068	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	303	cd05032	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd06637	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd05036	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd05062	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd05071	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	295	cd07852	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	326	cd07851	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd06654	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd06659	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd06646	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd06645	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd06638	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd05100	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05108	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd05099	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd05053	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	1186	smart00220	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd06647	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd06656	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	278	cd06607	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd06655	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272	cd05101	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	292	cd07832	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd08220	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd08222	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	233	cd08218	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd06651	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	461	cd07834	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	407	cd06606	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	234	cd08225	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd07863	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd07860	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd05605	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd05587	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd07857	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd05045	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd08528	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	331	cd05122	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	274	cd05583	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd06631	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	315	cd08215	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	314	cd07841	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	280	cd06627	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd08530	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	232	cd05615	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd05578	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	291	cd05616	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd06629	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	232	cd08219	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	234	cd08223	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd06628	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd06630	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	361	cd07840	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	308	cd07829	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd06626	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	290	cd07843	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd06634	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd05092	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd05090	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd05091	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd05048	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05063	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd05064	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd06648	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	318	cd05094	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd05093	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd06643	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd05049	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd06611	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	274	cd05097	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd05095	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	310	cd05096	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	329	cd05051	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	322	cd05046	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd05050	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	365	cd05054	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	316	cd05103	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	314	cd05102	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	298	cd05057	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd06624	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd07831	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	284	cd07846	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd06917	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	348	cd07833	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd06625	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	415	cd07842	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd05058	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05042	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd05087	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd05086	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd05592	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	223	cd05619	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd05570	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	229	cd05582	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	288	cd05118	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05078	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05077	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	cd05037	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd05076	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	498	cd00192	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	306	cd08217	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	228	cd05085	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	229	cd05084	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd05040	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	231	cd05041	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd05044	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05060	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	231	cd05116	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd06635	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	358	cd05106	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	882	cd05123	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd08221	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	231	cd05115	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	228	cd05608	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	836	cd00180	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	314	cd05572	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	801	cd05579	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05047	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	234	cd05114	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd05113	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	234	cd05112	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	320	cd07866	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd06616	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05065	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	278	cd05033	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd05066	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	305	cd05038	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd05079	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd05081	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05111	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05109	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05110	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd05088	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd05080	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	274	cd07873	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd06652	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	274	cd07872	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd07871	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	332	cd07849	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	280	cd05043	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd08224	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd06653	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	275	cd05098	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd06632	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd05584	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd06658	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	smart00750	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd05059	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	333	cd07838	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd05035	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd05075	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd05074	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	446	pfam00069	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	373	cd07830	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	461	pfam07714	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	679	smart00219	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd07835	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd07854	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	232	cd05589	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	985	smart00221	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	295	cd07865	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd06618	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd06644	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	376	cd05105	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	360	cd05104	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	378	cd05107	NULL
2263	222144244	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	274	cd06639	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	229	cd05608	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05577	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	232	cd05607	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	802	cd05579	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd08221	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd05047	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	883	cd05123	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	232	cd05115	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	837	cd00180	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	315	cd05572	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	233	cd08219	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	293	cd07832	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	287	cd07857	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	332	cd05122	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	315	cd07841	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	281	cd06627	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd08530	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd05578	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd08223	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd06628	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd06630	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd08220	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd08222	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	234	cd08218	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd06651	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	233	cd05616	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	233	cd05615	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05587	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd05605	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd05613	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd05583	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd08528	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	232	cd07860	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd07863	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd05045	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd06629	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	315	cd07853	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	408	cd06606	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd08225	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	462	cd07834	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd05632	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd06631	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	316	cd08215	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd06624	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	299	cd05057	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	366	cd05054	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	317	cd05103	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	315	cd05102	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	275	cd06639	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd06659	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	376	cd05055	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd06636	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd07871	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd08224	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd07872	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	281	cd05043	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd06653	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	305	cd07849	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd07873	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd06652	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd06648	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	319	cd05094	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	275	cd05097	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd05095	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	311	cd05096	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	330	cd05051	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	323	cd05046	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd05050	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd05093	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd05049	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd06611	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd05048	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd05063	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd05064	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd06643	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd05090	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd05091	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd05092	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	1187	smart00220	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	359	cd05106	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd06654	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd07877	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd06607	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	cd05101	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd06655	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd06657	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd06635	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	296	cd07865	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd06644	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd06618	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd06658	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	cd07854	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	334	cd07838	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd07835	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd05059	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	447	pfam00069	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	374	cd07830	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	462	pfam07714	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	680	smart00219	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	986	smart00221	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd05035	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd05075	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd05074	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	233	cd05589	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd05584	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd06632	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd05099	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	287	cd05053	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd05108	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd05100	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd06638	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	291	cd07843	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd05098	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd05111	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd05109	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	324	cd07866	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd06616	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd05088	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd05080	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd05065	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	279	cd05033	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd05066	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	306	cd05038	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd05079	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd05081	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd05110	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd05114	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd05113	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd05112	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd07870	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd07864	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd05071	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	cd05056	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd05069	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd05061	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	304	cd05032	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd06637	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd05036	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd05062	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd05089	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05052	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05073	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd05034	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	cd05148	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05039	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd05067	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	233	cd05082	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	231	cd05083	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd05070	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05072	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd05068	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	362	cd07840	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	309	cd07829	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd06626	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	296	cd07852	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	234	cd06642	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	234	cd06640	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd07844	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	234	cd06641	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd06613	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	288	cd06608	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd06612	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	289	cd06614	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd07845	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd07848	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd08229	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	317	cd06605	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd07837	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd05612	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	319	cd06623	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd06617	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd07839	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	1148	COG0515	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd07856	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd06609	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd06619	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd08228	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	234	cd07861	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd07862	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd07836	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd06622	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd08529	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd06621	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	480	cd05581	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	cd06615	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd06610	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	300	cd05580	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd07847	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	294	cd07851	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd07878	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	cd07850	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	smart00750	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05060	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	232	cd05116	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	228	cd05594	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05078	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd05077	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	274	cd05037	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd05076	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	499	cd00192	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd05588	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd05591	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	228	cd05571	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	229	cd05085	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	230	cd05084	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd05040	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	232	cd05041	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd05044	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	289	cd05118	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	230	cd05582	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05570	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	228	cd05619	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05592	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd05620	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	307	cd08217	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd05058	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd05042	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd05087	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd05086	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	379	cd05107	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	361	cd05104	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	377	cd05105	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd06656	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd06647	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	349	cd07833	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd06625	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	416	cd07842	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd06917	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd07846	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd07831	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd06646	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd06645	NULL
2263	222144235	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd06634	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	345	cd07829	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	400	cd07840	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd07844	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd06640	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd06641	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd06642	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272	cd07846	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd06917	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	cd07845	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	310	cd06614	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd06618	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	322	cd07865	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272	cd06644	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd06635	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268_G	cd06655	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	296	cd05101	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd06607	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd05047	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd05608	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd05607	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd05115	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd08221	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd08224	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd07873	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd07872	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	284	cd07849	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd07871	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	274	cd06658	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	281	cd07878	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	306	cd07851	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	309	cd07850	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	402	cd05107	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	400	cd05105	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	384	cd05104	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	337	cd07857	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd05583	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	310	cd07853	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd07863	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	284	cd05578	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd08219	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd05615	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd05616	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd05587	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd05605	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd08220	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd08222	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd08218	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd06651	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	468	cd07834	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd05045	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254_G	cd07860	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05614	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	322	cd05057	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	389	cd05054	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	340	cd05103	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	338	cd05102	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	1248	smart00220	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd05594	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05590	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05591	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd05060	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd05116	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd05588	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd05617	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd05582	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05058	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd05042	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd05087	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05086	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	282	cd05592	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd05570	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	274	cd05593	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd05571	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd05595	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd05619	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05620	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	382	cd05106	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	cd06659	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	399	cd05055	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	279	cd05093	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	342	cd05094	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd05092	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	cd06648	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd05048	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd05063	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05064	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd06643	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	294	cd05049	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	278	cd06611	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	281	cd06634	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	287	cd07880	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268_G	cd06656	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268_G	cd06647	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	cd07877	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269_G	cd06654	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	281	cd05080	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd05111	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd05109	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd05110	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd05065	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	302	cd05033	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05066	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	329	cd05038	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	cd05079	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	cd05081	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	282	cd06616	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	280	cd05088	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	299	cd05098	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	289	smart00750	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd05589	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	cd05035	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd05075	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272	cd05074	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	280	cd07835	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	307	cd07838	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	306	cd07854	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd07856	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	341	cd06623	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	1196	COG0515	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd08229	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	345	cd06605	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	290	cd06622	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd05612	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd07862	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd08228	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd07839	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	295	cd06609	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	287	cd06619	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	304	cd06615	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	278	cd06621	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	336	cd05580	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272_G	cd07837	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd07847	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd07836	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272	cd06617	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	280	cd07848	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd07861	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	310	cd05053	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	293	cd05099	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	294	cd05100	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd05108	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd05071	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	275	cd05089	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd05052	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd07864	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd07870	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	280	cd07858	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	297	cd05056	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	279	cd05061	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	337	cd07852	NULL
2263	222144233	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	274	cd05584	NULL
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	166	cd07843	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	166	cd06618	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd06644	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	171	cd07865	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd07852	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	182	cd06639	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	287	cd05105	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	289	cd05107	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd05104	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	77	smart00750	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	165	cd07880	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	167	cd07850	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	165	cd07878	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	181	cd07851	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	166	cd06632	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd05584	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	199	cd06614	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	168	cd07845	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd06646	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd06645	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	162	cd06607	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	162	cd06655	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	184	cd05101	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	164	cd06659	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	165	cd06658	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	187	cd05098	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	162	cd06612	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd06640	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd06641	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd06642	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	190	cd06608	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd06613	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd07844	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	181	cd05099	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	171	cd06638	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd05108	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	197	cd05053	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	181	cd05100	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	170	cd08528	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd08219	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	193	cd07834	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd08223	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd06628	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd06630	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	174	cd05045	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	164	cd07841	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd06627	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd08530	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd07860	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	158	cd08220	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd08222	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd08218	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd06651	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd05614	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd06606	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd08225	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd06631	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	207	cd08215	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	182	cd05122	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05615	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05616	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd05587	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	167	cd07832	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd06629	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd05605	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	158	cd07863	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05578	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd05583	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd07853	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd07857	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd06643	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	169	cd05092	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	179	cd05049	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd06611	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	178	cd05097	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	188	cd05095	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	214	cd05096	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	212	cd05051	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	233	cd05046	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	180	cd05050	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	171	cd05090	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	171	cd05091	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	163	cd06648	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	167	cd05093	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	170	cd05094	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	174	cd05048	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd05063	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	154	cd05064	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	533	smart00220	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	163	cd06654	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	167	cd07877	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	pfam00069	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	223	cd07830	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	322	pfam07714	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	460	smart00219	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd05059	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	174	cd07854	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	174	cd07838	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	625	smart00221	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05589	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	170	cd05035	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	174	cd05075	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	160	cd05074	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	174	cd07835	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd07858	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd05069	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd05073	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	154	cd05034	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd05148	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd05039	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd05067	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd05082	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd05083	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd05070	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd05072	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd05068	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	167	cd05061	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd05071	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	183	cd05056	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	165	cd07864	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	211	cd05032	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	158	cd06637	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	168	cd05036	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	166	cd05062	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	166	cd05089	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd07870	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd05052	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	162	cd06634	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd05115	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	447	cd00180	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	215	cd05572	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	143	cd05579	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd05608	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd05607	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	663	cd05123	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	159	cd05047	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd08221	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd06624	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	275	cd05054	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	227	cd05103	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	225	cd05102	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	209	cd05057	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd08228	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd06617	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd07856	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd08229	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	166	cd06605	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	201	cd05580	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	667	COG0515	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd06621	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd07839	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	171	cd06609	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	163	cd06619	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd06615	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	176	cd07848	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd07861	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	166	cd07837	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd07847	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd07836	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd07862	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	163	cd06622	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd08529	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	159	cd06610	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05612	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	196	cd06623	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd05581	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	171	cd05088	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd05114	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05113	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd05112	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	154	cd05080	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd05111	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd05109	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	178	cd07866	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	162	cd06616	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd05110	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd05065	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	185	cd05033	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd05066	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	179	cd05038	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd05079	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd05081	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd05106	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	172	cd06635	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	162	cd06656	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	162	cd06647	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd06625	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd07842	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	154	cd07831	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	158	cd06917	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd07846	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	174	cd07833	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd06626	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	197	cd07829	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	197	cd07840	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	168	cd06636	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd05055	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	143	cd05619	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	158	cd05620	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd05058	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd05042	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd05087	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd05086	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	218	cd08217	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	143	cd05588	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	143	cd05617	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd05060	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd05116	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd05078	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	159	cd05077	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	174	cd05037	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	171	cd05076	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	367	cd00192	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	158	cd05592	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd05085	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd05084	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd05040	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	143	cd05041	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	164	cd05044	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd05570	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd05593	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	143	cd05571	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd05595	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	143	cd05594	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	143	cd05590	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	143	cd05591	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd05582	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd05118	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd07849	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	192	cd05043	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	177	cd06652	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	154	cd08224	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd07871	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd07872	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd06653	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd07873	221316639,NP_000132
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd07846	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	275	cd06917	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd05608	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd05607	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd07878	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	311	cd07851	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	314	cd07850	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd06643	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	278	cd06648	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	299	cd05049	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	cd06611	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	284	cd05093	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	347	cd05094	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	290	cd06635	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	323	cd07865	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	277	cd06644	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	290	cd06618	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	350	cd07829	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	405	cd07840	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd05108	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	299	cd05100	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	297	cd05099	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd05111	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	287	cd06616	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd05110	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	cd05088	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	cd05109	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	279	cd06658	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268_G	cd06656	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268_G	cd06647	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd05594	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd05590	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd05591	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd05619	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272	cd05620	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd05570	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	279	cd05593	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd05571	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd05595	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd05588	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05617	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	287	cd05592	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd05582	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd07871	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	295	cd07849	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	279	cd07873	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd07872	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268_G	cd06655	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	281	cd06607	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	301	cd05101	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	304	cd05098	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269_G	cd06654	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	288	cd07877	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	318	cd06614	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd07845	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd05605	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd05614	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254_G	cd07860	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	cd07863	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	473	cd07834	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	342	cd07857	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	289	cd05578	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd05615	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd05616	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05587	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	274	cd05583	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	321	cd07853	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267_G	cd07844	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd06640	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd06641	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd06642	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	294	smart00750	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	292	cd07880	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd06634	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	312	cd07838	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd07835	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd05589	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	316	cd07854	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	342	cd07852	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	279	cd05584	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	325	cd05057	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd05612	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd07856	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272_G	cd07837	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	cd07847	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd07836	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	319	cd06622	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd07839	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	300	cd06609	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	292	cd06619	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	310	cd06615	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	277	cd06617	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	1201	COG0515	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	342	cd05580	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	348	cd06623	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd07848	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd07861	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	cd06621	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	cd07862	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	278	cd06659	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	296	cd07864	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd07858	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd07870	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	278	cd05089	NULL
2263	222144241	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	284	cd05061	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd07863	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	319	cd07853	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd05614	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd05615	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd05616	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd05587	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	340	cd07857	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	287	cd05578	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	289	cd05045	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254_G	cd07860	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd05605	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272	cd05583	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	471	cd07834	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd05582	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd05594	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd05590	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd05591	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd05619	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd05620	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd05588	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd05617	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd05570	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	277	cd05593	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd05571	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd05595	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd05592	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	284	cd06634	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	323	cd05057	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	392	cd05054	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	343	cd05103	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	341	cd05102	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	295	cd05099	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd05108	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	297	cd05100	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	309	cd07854	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	310	cd07838	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	cd05589	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	cd07835	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	290	cd07880	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	300	cd05056	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	289	cd07864	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	282	cd05061	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	cd07858	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd05089	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd07870	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	288	cd06635	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd06659	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	348	cd07829	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	403	cd07840	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd05109	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd06616	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd05110	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	281	cd05088	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd05111	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	312	cd07850	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	284	cd07878	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	309	cd07851	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd07845	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	313	cd06614	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	302	cd05098	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268_G	cd06656	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268_G	cd06647	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd07871	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	293	cd07849	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272	cd07873	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd07872	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	282	cd05093	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	345	cd05094	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd06648	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	297	cd05049	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	281	cd06611	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd06643	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269_G	cd06654	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd07877	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	274	cd07856	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd07862	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd07839	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	298	cd06609	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	290	cd06619	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	308	cd06615	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	317	cd06622	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	cd07848	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd07861	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	281	cd06621	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	275	cd06617	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	1199	COG0515	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	346	cd06623	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272_G	cd07837	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd07847	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd07836	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd05612	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	339	cd05580	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	288	cd06618	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	322_G	cd07865	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	275	cd06644	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	279	cd06607	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268_G	cd06655	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	299	cd05101	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	277	cd05584	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	340	cd07852	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	274_G	cd07846	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	cd06917	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267_G	cd07844	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd06640	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd06641	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd06642	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	292	smart00750	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	277	cd06658	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd05608	NULL
2263	222144237	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd05607	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd07852	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd05106	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	163	cd06659	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd05108	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	180	cd05100	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	196	cd05053	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	180	cd05099	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	170	cd06638	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd05055	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	167	cd06636	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd06656	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd06647	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	76	smart00750	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd06607	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd06655	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	183	cd05101	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	158	cd05047	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	143	cd05608	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd05607	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd05115	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd05579	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd08221	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	446	cd00180	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	214	cd05572	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	662	cd05123	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	186	cd05098	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd06626	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	196	cd07829	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	196	cd07840	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	170	cd07865	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	165	cd06618	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd06644	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	166	cd07877	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	162	cd06654	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	164	cd06658	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd06634	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd05109	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	170	cd05088	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd05080	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd06616	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd05065	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	184	cd05033	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd05066	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	178	cd05038	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd05079	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	154	cd05081	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	177	cd07866	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd05110	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd05114	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd05113	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd05112	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd05111	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	165	cd07843	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	531	smart00220	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	288	cd05107	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd05105	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd05104	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd08229	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	165	cd06605	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	160	cd06621	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	154	cd07856	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd08228	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd05581	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	195	cd06623	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	175	cd07848	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd07861	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	158	cd06610	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd05612	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	162	cd06622	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	165	cd07837	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd07847	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd07836	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd08529	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	666	COG0515	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	200	cd05580	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd06617	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd07862	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd07839	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	170	cd06609	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	162	cd06619	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd06615	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05071	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	165	cd05089	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	210	cd05032	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd06637	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	167	cd05036	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	165	cd05062	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	164	cd07864	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05069	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd05052	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	166	cd05061	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	182	cd05056	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd07870	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd07858	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd05073	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd05034	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd05148	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd05039	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05067	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05082	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd05083	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05070	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd05072	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd05068	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	180	cd07851	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	166	cd07850	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	164	cd07878	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	164	cd07880	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd08219	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	163	cd07841	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd06627	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd08530	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd08220	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd08222	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd08218	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd06651	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	192	cd07834	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	181	cd05122	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd07857	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd07863	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd05578	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd06631	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	206	cd08215	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05605	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	169	cd08528	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd05583	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd05615	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd05616	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd05587	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd08223	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	154	cd06628	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd06630	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd07860	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd06606	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd08225	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd06629	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd07853	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	173	cd05045	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	166	cd07832	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd05614	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	274	cd05054	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	226	cd05103	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	224	cd05102	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	160	cd06624	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	208	cd05057	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	181	cd06639	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd07872	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd08224	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd07873	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd07871	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd06653	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	191	cd05043	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd07849	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	176	cd06652	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	166	cd05093	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	169	cd05094	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	162	cd06648	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd06643	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	168	cd05092	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	177	cd05097	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	187	cd05095	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	213	cd05096	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	211	cd05051	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	232	cd05046	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	179	cd05050	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	178	cd05049	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd06611	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	173	cd05048	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	154	cd05063	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd05064	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	170	cd05090	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	170	cd05091	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd05588	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd05617	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05060	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd05116	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	140	cd05085	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	140	cd05084	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	154	cd05040	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd05041	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	163	cd05044	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd05582	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd05594	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd05590	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd05591	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd05592	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd05078	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	158	cd05077	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	173	cd05037	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	170	cd05076	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	366	cd00192	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd05058	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd05042	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd05087	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd05086	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd05118	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd05570	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd05593	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd05571	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd05595	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	217	cd08217	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd05619	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd05620	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd06646	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd06645	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	624	smart00221	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	173	cd07854	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	173	cd07835	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	pfam00069	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	222	cd07830	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	321	pfam07714	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	459	smart00219	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	169	cd05035	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	173	cd05075	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	159	cd05074	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05059	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	173	cd07838	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd05589	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd07831	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	173	cd07833	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd06625	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd07842	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd07846	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd06917	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	167	cd07845	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	198	cd06614	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	171	cd06635	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd05584	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	165	cd06632	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd06613	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	189	cd06608	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd07844	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd06612	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd06640	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd06641	NULL
2263	221316638	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd06642	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd05608	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd05607	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	310	cd07854	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	284	cd05589	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	284	cd07835	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	311	cd07838	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	303	cd05098	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	341	cd07852	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	295	cd07864	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	277	cd05089	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	301	cd05056	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd07870	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	284	cd07858	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	cd05061	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	274	cd06917	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	275	cd07846	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	277	cd06659	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	298	cd05049	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	282	cd06611	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	277	cd06648	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd06643	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	cd05093	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	346	cd05094	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	278	cd06658	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	278	cd05584	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd06640	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd06641	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd06642	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267_G	cd07844	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269_G	cd06654	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	287	cd07877	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd06634	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	277	cd07845	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	317	cd06614	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	310	cd07851	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	313	cd07850	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd07878	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	340	cd05580	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	284	cd07848	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261_G	cd07861	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272	cd07862	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	275	cd07856	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272_G	cd07837	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272	cd07847	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd07836	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	282	cd06621	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	347	cd06623	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd06617	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd07839	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	299	cd06609	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	291	cd06619	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	309	cd06615	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd05612	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	1200	COG0515	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	318	cd06622	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd06616	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272	cd05109	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	282	cd05088	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd05111	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd05110	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	300	cd05101	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	280	cd06607	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268_G	cd06655	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd06644	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	322_G	cd07865	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	289	cd06618	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd05108	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	298	cd05100	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	296	cd05099	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd05615	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd05616	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd05587	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	cd05583	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	472	cd07834	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd05614	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254_G	cd07860	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	288	cd05578	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272	cd07863	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	320	cd07853	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	341	cd07857	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd05605	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	291	cd07880	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd05592	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd05570	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	278	cd05593	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd05571	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd05595	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd05588	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd05617	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05619	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd05620	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd05582	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd05594	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd05590	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd05591	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	289	cd06635	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	349	cd07829	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	404	cd07840	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	293	smart00750	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd07871	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd07872	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	cd07873	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	294	cd07849	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	324	cd05057	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268_G	cd06647	NULL
2263	222144239	Disease	p.Ala648Thr	176943.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268_G	cd06656	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd07852	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd05106	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	143	cd06659	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	176	cd05053	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd05108	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	160	cd05099	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd06638	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	160	cd05100	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd05055	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd06636	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd06647	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd06656	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	49	smart00750	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd06607	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	163	cd05101	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd06655	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	138	cd05047	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	121	cd05115	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	123	cd05608	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	122	cd05579	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd08221	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	367	cd00180	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	194	cd05572	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	642	cd05123	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	166	cd05098	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	175	cd07840	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	166	cd07829	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd06626	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd06618	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd06644	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd07865	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd06654	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd06658	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd06634	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd05111	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd05109	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd05080	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	126	cd05114	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd05113	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	126	cd05112	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd05110	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd05088	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd06616	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd05065	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	164	cd05033	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd05066	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	154	cd05038	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd05079	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	134	cd05081	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd07866	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd07843	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	428	smart00220	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd05107	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05105	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd05104	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd08229	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd06605	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd07847	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd08529	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd06621	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd06609	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd08228	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd06619	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd05581	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd07861	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd07836	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd06622	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd06615	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd07862	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	125	cd07839	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd05612	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	174	cd06623	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd06617	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	138	cd06610	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	180	cd05580	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd07837	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05071	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	162	cd05056	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd05061	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	190	cd05032	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	137	cd06637	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd05036	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd05062	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd07864	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05069	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd05052	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd05073	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd05034	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd05148	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd05039	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05067	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05082	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	126	cd05083	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05070	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd05072	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd05068	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd05089	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	160	cd07851	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd08528	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	126	cd08219	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd08223	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	134	cd06628	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd06630	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	143	cd07841	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd06627	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd08530	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd08220	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd08222	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd08218	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd06651	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd06629	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	207	cd06606	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd08225	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd05045	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd07832	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	160	cd05122	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	137	cd07863	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	126	cd07860	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05605	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd05587	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd07857	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd05615	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd05578	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd05616	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd06631	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	169	cd08215	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	169	cd07834	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd05583	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd05054	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	206	cd05103	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	204	cd05102	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	139	cd06624	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	188	cd05057	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd06639	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd07872	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd08224	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd07873	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd07871	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd07849	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd06653	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	168	cd05043	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd06652	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd06648	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd05094	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05092	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd05097	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	167	cd05095	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	182	cd05096	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	187	cd05051	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	212	cd05046	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	159	cd05050	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd05093	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd06643	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd05049	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd06611	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd05048	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	134	cd05063	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd05064	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd05090	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd05091	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05060	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	121	cd05116	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd05058	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd05042	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd05087	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	126	cd05086	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05078	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd05077	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd05037	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	143	cd05076	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	335	cd00192	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	124	cd05570	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	124	cd05582	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd05118	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	120	cd05085	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	120	cd05084	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd05040	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	122	cd05041	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd05044	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	158	cd08217	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	137	cd05592	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	122	cd05619	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd06646	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd06645	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05059	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	538	smart00221	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd07835	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd07854	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd05589	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	217	pfam00069	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	178	cd07830	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	282	pfam07714	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	423	smart00219	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd05035	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd05075	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	139	cd05074	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd07838	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd07846	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd07831	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd07833	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd06625	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	230	cd07842	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd06917	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	178	cd06614	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd07845	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd06635	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd05584	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd06632	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd06642	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd06641	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd06640	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd06613	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	169	cd06608	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd07844	NULL
2263	222144231	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd06612	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	217	cd08228	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	230	cd06621	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	222	cd08529	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	230	cd07837	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	216	cd07861	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	220	cd07836	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd06622	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	217	cd06615	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd07862	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd06609	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	466	cd05581	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd06619	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd06610	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	277	cd05580	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	217	cd07839	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	211	cd05612	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	278	cd06623	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	218	cd06617	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd07847	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	217	cd08229	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd06605	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd06636	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	355	cd05055	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd06614	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd07845	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd06608	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	222	cd06613	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	222	cd07844	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	214	cd06642	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	214	cd06641	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	214	cd06640	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	233	cd06612	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	218	cd05052	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	231	cd05089	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd07864	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	216	cd05069	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd05061	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd05056	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	217	cd05073	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	227	cd05034	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05148	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	219	cd05039	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd05067	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	212	cd05082	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	210	cd05083	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	216	cd05070	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	217	cd05072	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	222	cd05068	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	279	cd05032	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	229	cd06637	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd05036	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	234	cd05062	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	216	cd05071	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd07852	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd07851	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	229	cd06654	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	230	cd06659	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	222	cd06646	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	222	cd06645	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd06638	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd05100	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	224	cd05108	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd05099	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05053	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	881	smart00220	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	228	cd06647	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	228	cd06656	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd06607	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	228	cd06655	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd05101	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd07832	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	223	cd08220	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	218	cd08222	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	214	cd08218	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	222	cd06651	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	354	cd07834	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	366	cd06606	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	214	cd08225	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	226	cd07863	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	214	cd07860	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	217	cd05605	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	218	cd05587	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd07857	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd05045	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd08528	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	300	cd05122	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd05583	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	223	cd06631	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	284	cd08215	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd07841	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd06627	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	220	cd08530	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	213	cd05615	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	227	cd05578	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	213	cd05616	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd06629	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	212	cd08219	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	214	cd08223	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	229	cd06628	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	221	cd06630	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	317	cd07840	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd07829	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd06626	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd07843	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	229	cd06634	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd05092	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05090	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05091	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd05048	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	224	cd05063	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	222	cd05064	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	229	cd06648	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	298	cd05094	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd05093	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	221	cd06643	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd05049	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	223	cd06611	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd05097	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd05095	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	290	cd05096	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	309	cd05051	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	301	cd05046	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd05050	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	345	cd05054	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	296	cd05103	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	294	cd05102	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	278	cd05057	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	230	cd06624	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd07831	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd07846	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	226	cd06917	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	327	cd07833	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	223	cd06625	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	377	cd07842	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	222	cd05058	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	228	cd05042	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	229	cd05087	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	223	cd05086	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	224	cd05592	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	208	cd05619	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	219	cd05570	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	210	cd05582	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd05118	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	218	cd05078	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	222	cd05077	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd05037	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd05076	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	465	cd00192	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd08217	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	208	cd05085	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	209	cd05084	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	226	cd05040	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	211	cd05041	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	232	cd05044	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	218	cd05060	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	211	cd05116	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd06635	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	338	cd05106	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	833	cd05123	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	217	cd08221	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	211	cd05115	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	209	cd05608	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	816	cd00180	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	291	cd05572	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	771	cd05579	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	224	cd05047	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	214	cd05114	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	215	cd05113	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	214	cd05112	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	280	cd07866	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	230	cd06616	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	224	cd05065	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd05033	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	222	cd05066	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	277	cd05038	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05079	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05081	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	224	cd05111	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	224	cd05109	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	224	cd05110	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd05088	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd05080	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd07873	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd06652	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd07872	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	220	cd07871	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	280	cd07849	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd05043	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	219	cd08224	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	222	cd06653	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd05098	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd06632	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05584	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd06658	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	204	smart00750	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	216	cd05059	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	282	cd07838	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05035	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd05075	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	228	cd05074	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	381	pfam00069	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	342	cd07830	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	434	pfam07714	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	647	smart00219	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd07835	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd07854	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	213	cd05589	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	946	smart00221	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd07865	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd06618	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	228	cd06644	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	356	cd05105	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	340	cd05104	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	358	cd05107	NULL
2263	222144244	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd06639	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	210	cd05608	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	218	cd05577	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	212	cd05607	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	772	cd05579	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	218	cd08221	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	225	cd05047	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	834	cd05123	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	212	cd05115	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	817	cd00180	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	292	cd05572	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	213	cd08219	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd07832	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd07857	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	301	cd05122	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	277	cd07841	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd06627	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	221	cd08530	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	228	cd05578	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	215	cd08223	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	230	cd06628	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	222	cd06630	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	224	cd08220	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	219	cd08222	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	215	cd08218	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	223	cd06651	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	214	cd05616	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	214	cd05615	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	219	cd05587	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	218	cd05605	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	233	cd05613	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	219	cd05583	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd08528	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	215	cd07860	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	227	cd07863	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd05045	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd06629	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd07853	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	367	cd06606	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	215	cd08225	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	355	cd07834	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	218	cd05632	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	224	cd06631	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd08215	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	231	cd06624	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	279	cd05057	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	346	cd05054	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	297	cd05103	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	295	cd05102	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd06639	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	231	cd06659	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	356	cd05055	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd06636	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	221	cd07871	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	220	cd08224	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	222	cd07872	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd05043	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	223	cd06653	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd07849	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	222	cd07873	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd06652	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	230	cd06648	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	299	cd05094	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd05097	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd05095	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	291	cd05096	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	310	cd05051	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	302	cd05046	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd05050	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd05093	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd05049	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	224	cd06611	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd05048	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	225	cd05063	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	223	cd05064	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	222	cd06643	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05090	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05091	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05092	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	905	smart00220	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	339	cd05106	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	230	cd06654	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd07877	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd06607	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd05101	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	229	cd06655	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	229	cd06657	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd06635	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd07865	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	229	cd06644	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd06618	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd06658	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd07854	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	cd07838	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd07835	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	217	cd05059	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	382	pfam00069	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	343	cd07830	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	436	pfam07714	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	649	smart00219	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	947	smart00221	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05035	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd05075	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	229	cd05074	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	214	cd05589	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05584	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd06632	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd05099	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd05053	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	225	cd05108	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05100	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd06638	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd07843	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd05098	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	225	cd05111	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	225	cd05109	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	cd07866	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	231	cd06616	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd05088	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05080	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	225	cd05065	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd05033	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	223	cd05066	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	278	cd05038	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05079	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05081	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	225	cd05110	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	215	cd05114	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	216	cd05113	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	215	cd05112	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	216	cd07870	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	231	cd07864	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	217	cd05071	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd05056	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	217	cd05069	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd05061	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	280	cd05032	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	230	cd06637	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05036	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd05062	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	232	cd05089	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	219	cd05052	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	218	cd05073	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	228	cd05034	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd05148	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	220	cd05039	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd05067	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	213	cd05082	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	211	cd05083	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	217	cd05070	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	218	cd05072	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	223	cd05068	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	317_G	cd07840	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	287	cd07829	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd06626	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272	cd07852	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	215	cd06642	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	215	cd06640	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	223	cd07844	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	215	cd06641	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	223	cd06613	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd06608	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	234	cd06612	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd06614	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	228	cd07845	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd07848	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	218	cd08229	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd06605	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	231	cd07837	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	212	cd05612	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	279	cd06623	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	219	cd06617	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	218	cd07839	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	996	COG0515	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	219	cd07856	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd06609	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd06619	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	218	cd08228	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	217	cd07861	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	223_G	cd07862	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	221	cd07836	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd06622	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	223	cd08529	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	231	cd06621	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	467	cd05581	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	218	cd06615	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd06610	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	278	cd05580	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	222	cd07847	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd07851	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	229	cd07878	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd07850	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	205	smart00750	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	219	cd05060	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	212	cd05116	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	210	cd05594	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	219	cd05078	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	222_G	cd05077	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd05037	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd05076	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	466	cd00192	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	218	cd05588	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	221	cd05591	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	209	cd05571	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	209	cd05085	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	210	cd05084	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	227	cd05040	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	212	cd05041	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	233	cd05044	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd05118	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	211	cd05582	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	220	cd05570	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	208_G	cd05619	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	225	cd05592	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	220_G	cd05620	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	287	cd08217	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	223	cd05058	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	229	cd05042	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	230	cd05087	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	224	cd05086	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	359	cd05107	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	341	cd05104	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	357	cd05105	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	229	cd06656	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	229	cd06647	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	328	cd07833	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	224	cd06625	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	378	cd07842	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	227	cd06917	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd07846	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd07831	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	223	cd06646	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	223	cd06645	NULL
2263	222144235	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	230	cd06634	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	294	cd07843	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	289	cd06626	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	312	cd07829	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	366	cd07840	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	291	cd06608	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd06613	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd07844	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd06612	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd06640	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd06641	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd06642	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd07831	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd07846	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	352	cd07833	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd06917	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd06625	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	419	cd07842	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd07845	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	292	cd06614	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd06618	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	302	cd07865	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd06644	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd06635	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd06655	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd05101	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd06607	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	886	cd05123	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd05047	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	232	cd05608	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd05607	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd05115	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	840	cd00180	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	318	cd05572	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd08221	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	805	cd05579	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd08224	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd07873	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd07872	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd06652	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd07849	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	284	cd05043	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd07871	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd06653	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259_G	cd06658	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd07878	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd07851	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd07850	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd06646	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd06645	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	382	cd05107	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	380	cd05105	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	364	cd05104	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	308	cd07857	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	335	cd05122	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05583	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	cd07853	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	411	cd06606	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd08225	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd08528	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd07863	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd06629	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	306	cd07832	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd05578	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd08223	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd06628	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd06630	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd08219	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd05615	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd05616	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd05587	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05605	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd08220	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd08222	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd08218	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd06651	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	442	cd07834	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05045	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd07860	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	318	cd07841	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	284	cd06627	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd08530	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd06631	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	319	cd08215	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd05614	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	302	cd05057	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	369	cd05054	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	320	cd05103	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	318	cd05102	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd06624	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	278	cd06639	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	1190	smart00220	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	231	cd05594	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	231	cd05590	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	231	cd05591	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd05060	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd05116	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd05078	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05077	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	277	cd05037	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd05076	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	503	cd00192	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05588	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	234	cd05617	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	233	cd05582	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd05058	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd05042	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd05087	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05086	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd05592	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	292	cd05118	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	310	cd08217	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd05570	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd05593	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	231	cd05571	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	230	cd05595	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	227	cd05619	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd05620	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	232	cd05085	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	233	cd05084	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd05040	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd05041	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd05044	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	362	cd05106	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd06659	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd06636	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	379	cd05055	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd05093	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	322	cd05094	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd05092	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd06648	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05048	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd05063	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd05064	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd05090	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd05091	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd06643	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	274	cd05049	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd06611	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	278	cd05097	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	289	cd05095	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	314	cd05096	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	333	cd05051	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	326	cd05046	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272	cd05050	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd06634	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd07880	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd06656	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd06647	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd07877	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd06654	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd05080	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05114	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05113	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05112	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd05111	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd05109	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	327	cd07866	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd05110	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd05065	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	282	cd05033	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd05066	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	309	cd05038	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd05079	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd05081	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd06616	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd05088	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	279	cd05098	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	smart00750	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd05589	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05059	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	450	pfam00069	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	377	cd07830	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	465	pfam07714	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	683	smart00219	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd05035	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05075	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd05074	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd07835	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd07838	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd07854	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	989	smart00221	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd07856	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd08529	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	501	cd05581	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	322	cd06623	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	1151	COG0515	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd08229	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	320	cd06605	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd06622	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	234	cd05612	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd07862	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd08228	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd07839	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd06609	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd06619	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd06615	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd06621	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	303	cd05580	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd07837	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd07847	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd07836	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd06617	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	cd06610	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd07848	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd07861	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	290	cd05053	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	cd05099	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	274	cd05100	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd06638	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd05108	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05071	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd05089	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05069	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd05052	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd07864	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd05073	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd05034	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd05148	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05039	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05067	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd05082	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	234	cd05083	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05070	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd05072	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd05068	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd07870	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd07858	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	307	cd05032	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd06637	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd05036	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd05062	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	277	cd05056	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd05061	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	299	cd07852	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05584	NULL
2263	222144233	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd06632	NULL
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd07843	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd06618	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	137	cd06644	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd07865	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd07852	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	162	cd06639	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd05105	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd05107	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05104	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	50	smart00750	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd07880	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd07850	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd07878	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd07851	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd06632	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd05584	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	179	cd06614	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd07845	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd06646	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd06645	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd06607	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd06655	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	164	cd05101	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd06659	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd06658	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	167	cd05098	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd06612	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd06640	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd06641	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd06642	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	170	cd06608	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd06613	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd07844	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd05099	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd06638	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd05108	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	177	cd05053	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd05100	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd08528	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd08219	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	170	cd07834	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd08223	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd06628	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd06630	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	154	cd05045	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd07841	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	134	cd06627	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd08530	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd07860	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	137	cd08220	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	134	cd08222	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd08218	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd06651	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd05614	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	208	cd06606	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd08225	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd06631	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	170	cd08215	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd05122	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05615	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05616	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd05587	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd07832	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	137	cd06629	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd05605	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	138	cd07863	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05578	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd05583	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd07853	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd07857	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd06643	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd05092	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	154	cd05049	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd06611	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	158	cd05097	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	168	cd05095	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	183	cd05096	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	188	cd05051	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	213	cd05046	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	160	cd05050	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd05090	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd05091	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	143	cd06648	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd05093	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd05094	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	154	cd05048	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd05063	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	134	cd05064	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	429	smart00220	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	143	cd06654	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd07877	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	218	pfam00069	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	179	cd07830	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	pfam07714	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	424	smart00219	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd05059	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd07854	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd07838	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	539	smart00221	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05589	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd05035	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	154	cd05075	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	140	cd05074	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd07835	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd07858	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd05069	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd05073	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd05034	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd05148	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd05039	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd05067	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd05082	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd05083	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd05070	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd05072	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd05068	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd05061	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd05071	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	163	cd05056	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd07864	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	191	cd05032	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	138	cd06637	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd05036	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd05062	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd05089	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd07870	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd05052	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd06634	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	122	cd05115	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	368	cd00180	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	195	cd05572	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	123	cd05579	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	124	cd05608	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	122	cd05607	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	643	cd05123	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	139	cd05047	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd08221	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	140	cd06624	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd05054	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	207	cd05103	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	205	cd05102	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	189	cd05057	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd08228	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd06617	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd07856	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd08229	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd06605	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	181	cd05580	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	559	COG0515	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	137	cd06621	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	126	cd07839	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd06609	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	143	cd06619	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd06615	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd07848	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd07861	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd07837	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd07847	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd07836	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	137	cd07862	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd06622	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd08529	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	139	cd06610	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05612	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	175	cd06623	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd05581	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd05088	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd05114	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05113	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd05112	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	134	cd05080	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd05111	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd05109	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	158	cd07866	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd06616	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd05110	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd05065	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	165	cd05033	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd05066	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd05038	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd05079	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd05081	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd05106	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd06635	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd06656	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd06647	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd06625	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	231	cd07842	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd07831	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	137	cd06917	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd07846	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd07833	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd06626	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	167	cd07829	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	176	cd07840	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd06636	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05055	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	123	cd05619	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	138	cd05620	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd05058	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd05042	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd05087	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd05086	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	159	cd08217	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	123	cd05588	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	123	cd05617	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd05060	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	122	cd05116	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd05078	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd05077	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd05037	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd05076	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	336	cd00192	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	138	cd05592	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	121	cd05085	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	121	cd05084	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd05040	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	123	cd05041	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	137	cd05044	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	125	cd05570	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	122	cd05593	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	123	cd05571	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	122	cd05595	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	123	cd05594	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	123	cd05590	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	123	cd05591	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	125	cd05582	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd05118	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	137	cd07849	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	169	cd05043	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd06652	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	134	cd08224	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd07871	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd07872	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd06653	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd07873	221316639,NP_000132
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd07846	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	357	cd07833	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd06625	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	424	cd07842	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd07831	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd06917	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	849	cd00180	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	323	cd05572	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	910	cd05123	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05115	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd08221	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	810	cd05579	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd05047	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd05608	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05607	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	326	cd07843	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd07878	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	291	cd07851	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	281	cd07850	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd05090	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd05091	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd06643	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05092	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd06648	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	279	cd05049	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd06611	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd05048	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd05063	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05064	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	cd05097	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	294	cd05095	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	319	cd05096	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	338	cd05051	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	331	cd05046	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	277	cd05050	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd05093	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	327	cd05094	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd06635	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	307	cd07865	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd06644	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd06618	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	294	cd06626	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	325	cd07829	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	371	cd07840	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272	cd06638	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd05108	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	295	cd05053	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	279	cd05100	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	278	cd05099	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd05111	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd06616	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd05110	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd05088	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05080	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	339	cd07866	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd05065	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	287	cd05033	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05066	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	314	cd05038	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd05079	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd05081	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd05114	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05113	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd05112	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd05109	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd06658	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd06656	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd06647	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	315	cd08217	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05058	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd05042	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd05087	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd05086	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	297	cd05118	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd05594	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd05590	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd05591	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	232	cd05619	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05620	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd05570	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd05593	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd05571	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd05595	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd05060	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05116	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd05588	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05617	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd05078	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd05077	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	282	cd05037	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd05076	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	508	cd00192	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05592	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd05085	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05084	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd05040	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05041	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd05044	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05582	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	274	cd06652	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	289	cd05043	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd07871	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd06653	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272_G	cd07849	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd08224	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd07873	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd07872	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd06655	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd06607	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	281	cd05101	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	284	cd05098	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	cd06639	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	385	cd05105	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	369	cd05104	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	387	cd05107	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd06636	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	384	cd05055	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd06654	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268_G	cd07877	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	297	cd06614	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd07845	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd06631	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	324	cd08215	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd05605	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	311	cd07832	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05614	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd08219	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd07860	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd08528	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd08220	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd08222	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd08218	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd06651	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	340	cd05122	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	323	cd07841	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	289	cd06627	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd08530	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd05045	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd07863	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	416	cd06606	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd08225	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	447	cd07834	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	316	cd07857	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd05578	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd05615	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd05616	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd05587	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd05583	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd08223	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd06628	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd06630	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd06629	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	289	cd07853	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd07844	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd06612	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd06613	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd06640	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd06641	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd06642	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	296	cd06608	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	274	smart00750	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd07880	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd06646	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd06645	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd06634	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	291	cd07838	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	455	pfam00069	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	382	cd07830	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	470	pfam07714	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	688	smart00219	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd07835	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd05035	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd05075	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd05074	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd05589	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd05059	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	cd07854	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	1069	smart00221	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	367	cd05106	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	1195	smart00220	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	304	cd07852	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd06632	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05584	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	307	cd05057	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd06624	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	374	cd05054	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	325	cd05103	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	323	cd05102	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	278	cd06610	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd08228	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05612	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd07856	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd08229	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	327	cd06605	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd07837	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd07847	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd07836	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd06622	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd07839	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	281	cd06609	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272	cd06619	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	291	cd06615	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd08529	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd06617	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	516	cd05581	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	1171	COG0515	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	308	cd05580	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	327	cd06623	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd07848	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd07861	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd06621	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd07862	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd06659	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd05069	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd05073	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd05034	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	281	cd05148	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd05039	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd05067	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd05082	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05083	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd05070	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd05072	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05068	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd07864	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd07858	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd05071	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd07870	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd05089	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd05052	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	312	cd05032	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd06637	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05036	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd05062	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	282	cd05056	NULL
2263	222144241	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd05061	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	338	cd05122	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd08220	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd08222	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd08218	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd06651	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd07863	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	277	cd07853	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd06631	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	322	cd08215	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd05614	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05615	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05616	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05587	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd08223	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd06628	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd06630	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	321	cd07841	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	287	cd06627	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd08530	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd08528	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd08219	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	311	cd07857	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd06629	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd05578	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd05045	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd07860	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd05605	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	414	cd06606	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd08225	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd05583	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	309	cd07832	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	445	cd07834	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd05078	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd05077	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	280	cd05037	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd05076	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	506	cd00192	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd05582	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	313	cd08217	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	234	cd05594	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	234	cd05590	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	234	cd05591	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	295	cd05118	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	230	cd05619	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd05620	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd05588	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd05617	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd05085	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd05084	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd05040	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05041	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd05044	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd05058	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257_G	cd05042	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258_G	cd05087	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253_G	cd05086	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd05570	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd05593	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	234	cd05571	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	233	cd05595	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd05592	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd05060	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05116	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd06634	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd06624	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	305	cd05057	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	372	cd05054	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	323	cd05103	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	321	cd05102	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	365	cd05106	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd05099	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd06638	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05108	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	277	cd05100	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	293	cd05053	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	1193	smart00220	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd05059	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	281	cd07854	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05035	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd05075	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	255	cd05074	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	1067	smart00221	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	289	cd07838	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	453	pfam00069	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	380	cd07830	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	468	pfam07714	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	686	smart00219	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05589	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd07835	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd07880	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	280	cd05056	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd07864	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd05052	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd05061	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05073	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd05034	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	279	cd05148	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	247	cd05039	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd05067	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05082	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd05083	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd05070	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05072	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd05068	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd07858	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd05089	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	310	cd05032	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd06637	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd05036	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd05062	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd07870	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd05069	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd05071	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd06635	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd06659	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	292	cd06626	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	323	cd07829	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	369	cd07840	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd05114	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd05113	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd05112	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05109	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd06616	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05065	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd05033	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd05066	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	312	cd05038	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05079	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05081	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	330	cd07866	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05110	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd05080	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd05088	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05111	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	279	cd07850	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd07878	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	289	cd07851	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	281	cd06639	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd07845	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	295	cd06614	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	367	cd05104	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	383	cd05105	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	385	cd05107	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	282	cd05098	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd06656	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd06647	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	cd06652	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd07871	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd07849	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd07873	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd06653	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	287	cd05043	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd07872	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd08224	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd05093	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	325	cd05094	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd05048	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05063	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd05064	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd06648	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05090	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05091	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	277	cd05049	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd06611	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	281	cd05097	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	292	cd05095	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	317	cd05096	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	336	cd05051	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	329	cd05046	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	275	cd05050	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd05092	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd06643	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd06654	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd07877	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	382	cd05055	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd06636	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	297	cd07843	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd07856	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd07862	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd06610	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	504	cd05581	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd07839	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	279	cd06609	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd06619	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	289	cd06615	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd06622	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd07848	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd07861	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd06621	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd06617	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd08229	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	323	cd06605	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	1169	COG0515	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	325	cd06623	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd07837	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd07847	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd07836	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd05612	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd08228	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd08529	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	306	cd05580	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd06618	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	305	cd07865	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd06644	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd06607	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd06655	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	279	cd05101	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd06632	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd05584	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	302	cd07852	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	274	cd07831	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd06625	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	422	cd07842	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	355	cd07833	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd07846	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd06917	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd06646	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd06645	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd06613	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	294	cd06608	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd06612	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd07844	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd06640	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd06641	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd06642	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272	smart00750	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259_G	cd06658	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd08221	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd05608	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05607	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	808	cd05579	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	908	cd05123	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05115	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	847	cd00180	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	321	cd05572	NULL
2263	222144237	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd05047	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd07852	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd05106	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	143	cd06659	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd05108	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	160	cd05100	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	176	cd05053	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	160	cd05099	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd06638	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd05055	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd06636	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd06656	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd06647	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	49	smart00750	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd06607	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd06655	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	163	cd05101	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	138	cd05047	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	123	cd05608	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	121	cd05607	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	121	cd05115	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	122	cd05579	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd08221	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	367	cd00180	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	194	cd05572	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	642	cd05123	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	166	cd05098	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd06626	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	166	cd07829	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	175	cd07840	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd07865	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd06618	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd06644	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd07877	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd06654	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd06658	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd06634	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd05109	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd05088	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd05080	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd06616	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd05065	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	164	cd05033	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd05066	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	154	cd05038	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd05079	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	134	cd05081	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd07866	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd05110	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	126	cd05114	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd05113	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	126	cd05112	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd05111	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd07843	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	428	smart00220	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd05107	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd05105	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd05104	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd08229	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd06605	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd06621	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	134	cd07856	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd08228	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd05581	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	174	cd06623	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	155	cd07848	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd07861	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	138	cd06610	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd05612	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd06622	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd07837	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd07847	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd07836	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd08529	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	558	COG0515	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	180	cd05580	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd06617	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd07862	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	125	cd07839	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd06609	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd06619	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd06615	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05071	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd05089	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	190	cd05032	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	137	cd06637	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd05036	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd05062	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd07864	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05069	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd05052	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd05061	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	162	cd05056	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd07870	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd07858	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd05073	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd05034	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd05148	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd05039	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05067	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05082	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	126	cd05083	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05070	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd05072	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd05068	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	160	cd07851	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd07850	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd07878	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	144	cd07880	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	126	cd08219	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	143	cd07841	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd06627	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd08530	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd08220	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd08222	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd08218	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd06651	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	169	cd07834	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	160	cd05122	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd07857	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	137	cd07863	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd05578	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd06631	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	169	cd08215	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05605	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd08528	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd05583	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd05615	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd05616	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd05587	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd08223	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	134	cd06628	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd06630	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	126	cd07860	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	207	cd06606	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd08225	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd06629	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd07853	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd05045	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd07832	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd05614	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd05054	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	206	cd05103	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	204	cd05102	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	139	cd06624	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	188	cd05057	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	161	cd06639	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd07872	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd08224	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd07873	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd07871	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd06653	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	168	cd05043	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd07849	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	156	cd06652	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	146	cd05093	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd05094	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	142	cd06648	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd06643	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd05092	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	157	cd05097	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	167	cd05095	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	182	cd05096	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	187	cd05051	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	212	cd05046	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	159	cd05050	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd05049	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd06611	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd05048	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	134	cd05063	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	133	cd05064	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd05090	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	150	cd05091	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	122	cd05588	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	122	cd05617	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05060	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	121	cd05116	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	120	cd05085	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	120	cd05084	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd05040	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	122	cd05041	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd05044	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	124	cd05582	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	122	cd05594	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	122	cd05590	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	122	cd05591	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	137	cd05592	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05078	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd05077	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd05037	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	143	cd05076	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	335	cd00192	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd05058	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd05042	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	131	cd05087	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	126	cd05086	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	135	cd05118	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	124	cd05570	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	121	cd05593	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	122	cd05571	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	121	cd05595	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	158	cd08217	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	122	cd05619	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	137	cd05620	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd06646	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd06645	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	538	smart00221	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd07854	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd07835	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	217	pfam00069	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	178	cd07830	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	282	pfam07714	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	423	smart00219	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	149	cd05035	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	153	cd05075	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	139	cd05074	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	128	cd05059	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	152	cd07838	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd05589	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd07831	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	148	cd07833	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	132	cd06625	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	230	cd07842	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd07846	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	136	cd06917	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	147	cd07845	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	178	cd06614	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	151	cd06635	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd05584	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	145	cd06632	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	129	cd06613	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	169	cd06608	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	130	cd07844	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	141	cd06612	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd06640	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd06641	NULL
2263	221316638	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	127	cd06642	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	809	cd05579	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd05047	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	909	cd05123	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	848	cd00180	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	322	cd05572	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05608	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05607	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd08221	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05115	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	1068	smart00221	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	282	cd07854	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	454	pfam00069	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	381	cd07830	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	469	pfam07714	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	687	smart00219	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05589	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	266	cd07835	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05059	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd05035	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd05075	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd05074	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	290	cd07838	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	283	cd05098	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	303	cd07852	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	311	cd05032	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd06637	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd05036	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd05062	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05071	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd07864	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd05089	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd05052	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	281	cd05056	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd07870	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd07858	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd05073	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd05034	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	280	cd05148	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd05039	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd05067	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05082	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05083	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05070	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd05072	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd05068	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05069	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd05061	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	1194	smart00220	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd06625	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	423	cd07842	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd06917	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	285	cd07831	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd07846	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	356	cd07833	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd06659	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	386	cd05107	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	368	cd05104	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	384	cd05105	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	278	cd05049	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd06611	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	282	cd05097	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	293	cd05095	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	318	cd05096	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	337	cd05051	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	330	cd05046	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	276	cd05050	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd06648	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd06643	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd05090	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd05091	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd05093	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	326	cd05094	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd05048	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd05063	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd05064	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd05092	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd06658	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd05584	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd06632	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd06640	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd06641	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd06642	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	295	cd06608	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd06612	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd07844	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd06613	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd06654	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268_G	cd07877	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd06634	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd06636	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	383	cd05055	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	325	cd07843	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd07845	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	296	cd06614	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	290	cd07851	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	280	cd07850	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd07878	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd08229	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	326	cd06605	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	307	cd05580	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd07848	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd07861	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd07862	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	277	cd06610	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd08529	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd07856	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd07837	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd07847	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd07836	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	515	cd05581	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd08228	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	263	cd06621	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	326	cd06623	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd06617	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd07839	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	280	cd06609	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd06619	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	290	cd06615	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05612	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	1170	COG0515	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	269	cd06622	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd05080	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd06616	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd05109	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd05065	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	286	cd05033	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd05066	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	313	cd05038	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd05079	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	267	cd05081	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd05088	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd05111	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd05110	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd05114	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	243	cd05113	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd05112	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	338	cd07866	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	280	cd05101	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd06607	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd06655	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd06644	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	306	cd07865	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd06618	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	282	cd06639	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd05108	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	278	cd05100	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	294	cd05053	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	271	cd06638	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	277	cd05099	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd08223	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd06628	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd06630	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd08219	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05615	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	240	cd05616	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	245	cd05587	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd08220	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd08222	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	241	cd08218	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd06651	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	322	cd07841	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	288	cd06627	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd08530	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd05583	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	446	cd07834	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	262	cd06629	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd05614	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd06631	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	323	cd08215	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	415	cd06606	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	242	cd08225	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd07860	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	264	cd08528	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd05578	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd07863	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	288	cd07853	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	315	cd07857	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	310	cd07832	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	339	cd05122	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	270	cd05045	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05605	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd06646	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	253	cd06645	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	268	cd07880	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd05592	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	236	cd05085	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd05084	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	256	cd05040	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05041	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	260	cd05044	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd05060	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	239	cd05116	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd05570	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd05593	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd05571	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	234	cd05595	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	244	cd05588	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	238	cd05617	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	231	cd05619	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd05620	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	237	cd05582	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	314	cd08217	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	246	cd05078	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	248	cd05077	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	281	cd05037	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	261	cd05076	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	507	cd00192	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	296	cd05118	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd05594	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd05590	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	235	cd05591	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd05058	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd05042	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	259	cd05087	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd05086	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	366	cd05106	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	265	cd06635	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	293	cd06626	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	324	cd07829	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	370	cd07840	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273	smart00750	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	249	cd07871	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	254	cd06653	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	251	cd08224	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	250	cd07872	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	252	cd07873	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	272	cd07849	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	273_G	cd06652	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	288	cd05043	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	258	cd06624	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	306	cd05057	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	373	cd05054	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	324	cd05103	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	322	cd05102	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd06647	NULL
2263	222144239	Disease	p.Ala628Thr	176943.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	LADD SYNDROME	OMIM	257	cd06656	NULL
2263	222144231	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	90	cd00096	NULL
2263	222144231	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	39_G	cd05725	NULL
2263	222144231	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	73	cd05718	NULL
2263	222144231	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	63	cd04974	NULL
2263	222144231	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	52	cd05858	NULL
2263	222144231	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	smart00409	NULL
2263	222144231	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	smart00410	NULL
2263	222144231	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	93	pfam07686	NULL
2263	222144231	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	76	pfam07679	NULL
2263	222144231	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	99	smart00408	NULL
2263	222144244	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144235	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144233	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	No Domain	N/A	NULL
2263	120049	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	88	cd00096	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	37	cd05725	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	36	cd05723	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	44	cd05765	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	52	cd05858	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	61	cd04974	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	68	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	169	smart00409	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	169	smart00410	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	90	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	54_G	cd04968	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	75	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	91	smart00408	221316639,NP_000132
2263	222144241	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	No Domain	N/A	NULL
2263	222144237	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	No Domain	N/A	NULL
2263	221316638	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	90	cd00096	NULL
2263	221316638	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	39_G	cd05725	NULL
2263	221316638	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	73	cd05718	NULL
2263	221316638	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	63	cd04974	NULL
2263	221316638	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	52	cd05858	NULL
2263	221316638	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	smart00409	NULL
2263	221316638	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	155	smart00410	NULL
2263	221316638	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	93	pfam07686	NULL
2263	221316638	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	76	pfam07679	NULL
2263	221316638	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	99	smart00408	NULL
2263	222144239	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	52	cd05858	NULL
2263	222144239	Disease	p.Asp321Ala	176943.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943	PFEIFFER SYNDROME	OMIM	61	cd04974	NULL
2147	135807	Disease	p.Glu157Lys	176930.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN TYPE 3	OMIM	54	pfam00051	4503635,NP_000497
2147	135807	Disease	p.Glu157Lys	176930.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN TYPE 3	OMIM	60	smart00130	4503635,NP_000497
2147	135807	Disease	p.Glu157Lys	176930.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN TYPE 3	OMIM	64	cd00108	4503635,NP_000497
2147	135807	Disease	p.Arg271Cys	176930.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN BARCELONA	OMIM	77	cd00108	4503635,NP_000497
2147	135807	Disease	p.Arg271Cys	176930.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN BARCELONA	OMIM	63	pfam00051	4503635,NP_000497
2147	135807	Disease	p.Arg271Cys	176930.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN BARCELONA	OMIM	73	smart00130	4503635,NP_000497
2147	135807	Disease	p.Arg98Trp	176930.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN TOKUSHIMA	OMIM	No Domain	N/A	4503635,NP_000497
2147	135807	Disease	p.Arg382Cys	176930.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN QUICK I	OMIM	26	smart00020	4503635,NP_000497
2147	135807	Disease	p.Arg382Cys	176930.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN QUICK I	OMIM	23	pfam00089	4503635,NP_000497
2147	135807	Disease	p.Arg382Cys	176930.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN QUICK I	OMIM	23	cd00190	4503635,NP_000497
2147	135807	Disease	p.Gly558Val	176930.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN QUICK II	OMIM	471	smart00020	4503635,NP_000497
2147	135807	Disease	p.Gly558Val	176930.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN QUICK II	OMIM	275	pfam00089	4503635,NP_000497
2147	135807	Disease	p.Gly558Val	176930.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN QUICK II	OMIM	321	cd00190	4503635,NP_000497
2147	135807	Disease	p.Met337Thr	176930.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN HIMI-I	OMIM	23	pfam09396	4503635,NP_000497
2147	135807	Disease	p.Arg388His	176930.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN HIMI-II	OMIM	47	smart00020	4503635,NP_000497
2147	135807	Disease	p.Arg388His	176930.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN HIMI-II	OMIM	36	pfam00089	4503635,NP_000497
2147	135807	Disease	p.Arg388His	176930.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN HIMI-II	OMIM	41	cd00190	4503635,NP_000497
2147	135807	Disease	p.Glu300Lys	176930.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN DENVER I	OMIM	No Domain	N/A	4503635,NP_000497
2147	135807	Disease	p.Glu309Lys	176930.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN DENVER II	OMIM	No Domain	N/A	4503635,NP_000497
2147	135807	Disease	p.Arg67His	176930.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	DYSPROTHROMBINEMIA	OMIM	48	smart00069	4503635,NP_000497
2147	135807	Disease	p.Arg67His	176930.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	DYSPROTHROMBINEMIA	OMIM	20	pfam00594	4503635,NP_000497
2147	135807	Disease	p.Asp552Glu	176930.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN SAINT-DENIS	OMIM	465	smart00020	4503635,NP_000497
2147	135807	Disease	p.Asp552Glu	176930.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN SAINT-DENIS	OMIM	265	pfam00089	4503635,NP_000497
2147	135807	Disease	p.Asp552Glu	176930.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176930	PROTHROMBIN SAINT-DENIS	OMIM	312	cd00190	4503635,NP_000497
5627	131086	Disease	p.Ser460Pro	176880.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176880	PROTEIN S HEERLEN	OMIM	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Asn217Ser	176880.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176880	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	27	smart00181	192447438,NP_000304
5627	131086	Disease	p.Asn217Ser	176880.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176880	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	28	cd00053	192447438,NP_000304
5627	131086	Disease	p.Asn217Ser	176880.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176880	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	18	pfam00008	192447438,NP_000304
5627	131086	Disease	p.Asn217Ser	176880.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176880	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	23	pfam07645	192447438,NP_000304
5627	131086	Disease	p.Asn217Ser	176880.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176880	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	36	cd00054	192447438,NP_000304
5627	131086	Disease	p.Asn217Ser	176880.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176880	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	34	smart00179	192447438,NP_000304
5627	131086	Disease	p.Lys155Glu	176880.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176880	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Arg520Gly	176880.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176880	THROMBOPHILIA, HEREDITARY, DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT	OMIM	10	pfam02210	192447438,NP_000304
5781	33356177	Disease	p.Ala72Ser	176876.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	100	pfam00017	NULL
5781	33356177	Disease	p.Ala72Ser	176876.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	328	smart00252	NULL
5781	33356177	Disease	p.Ala72Ser	176876.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	124	cd00173	NULL
5781	33356177	Disease	p.Ala72Gly	176876.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	100	pfam00017	NULL
5781	33356177	Disease	p.Ala72Gly	176876.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	328	smart00252	NULL
5781	33356177	Disease	p.Ala72Gly	176876.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	124	cd00173	NULL
5781	33356177	Disease	p.Asn308Asp	176876.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	208	smart00194	NULL
5781	33356177	Disease	p.Asn308Asp	176876.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	65	pfam00102	NULL
5781	33356177	Disease	p.Asn308Asp	176876.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	128	COG5599	NULL
5781	33356177	Disease	p.Asn308Asp	176876.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	92	cd00047	NULL
5781	33356177	Disease	p.Asn308Ser	176876.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	208	smart00194	NULL
5781	33356177	Disease	p.Asn308Ser	176876.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	65	pfam00102	NULL
5781	33356177	Disease	p.Asn308Ser	176876.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	128	COG5599	NULL
5781	33356177	Disease	p.Asn308Ser	176876.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	92	cd00047	NULL
5781	33356177	Disease	p.Tyr279Cys	176876.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	90	smart00194	NULL
5781	33356177	Disease	p.Tyr279Cys	176876.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	7	pfam00102	NULL
5781	33356177	Disease	p.Tyr279Cys	176876.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	71	COG5599	NULL
5781	33356177	Disease	p.Tyr279Cys	176876.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	5	cd00047	NULL
5781	33356177	Disease	p.Thr468Met	176876.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	799	smart00194	NULL
5781	33356177	Disease	p.Thr468Met	176876.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	367	pfam00102	NULL
5781	33356177	Disease	p.Thr468Met	176876.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	150	COG2453	NULL
5781	33356177	Disease	p.Thr468Met	176876.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	341	COG5599	NULL
5781	33356177	Disease	p.Thr468Met	176876.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	245	smart00404	NULL
5781	33356177	Disease	p.Thr468Met	176876.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	245	smart00012	NULL
5781	33356177	Disease	p.Thr468Met	176876.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	574	cd00047	NULL
5781	33356177	Disease	p.Ser502Thr	176876.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	974	smart00194	NULL
5781	33356177	Disease	p.Ser502Thr	176876.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	416	pfam00102	NULL
5781	33356177	Disease	p.Ser502Thr	176876.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	177	COG2453	NULL
5781	33356177	Disease	p.Ser502Thr	176876.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	389	COG5599	NULL
5781	33356177	Disease	p.Ser502Thr	176876.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	353	smart00404	NULL
5781	33356177	Disease	p.Ser502Thr	176876.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	353	smart00012	NULL
5781	33356177	Disease	p.Ser502Thr	176876.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	706	cd00047	NULL
5781	33356177	Disease	p.Tyr63Cys	176876.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	89	pfam00017	NULL
5781	33356177	Disease	p.Tyr63Cys	176876.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	280	smart00252	NULL
5781	33356177	Disease	p.Tyr63Cys	176876.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	97	cd00173	NULL
5781	33356177	Disease	p.Tyr62Asp	176876.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	80	pfam00017	NULL
5781	33356177	Disease	p.Tyr62Asp	176876.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	276	smart00252	NULL
5781	33356177	Disease	p.Tyr62Asp	176876.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	96	cd00173	NULL
5781	33356177	Disease	p.Asp61Gly	176876.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	79	pfam00017	NULL
5781	33356177	Disease	p.Asp61Gly	176876.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	272	smart00252	NULL
5781	33356177	Disease	p.Asp61Gly	176876.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	95	cd00173	NULL
5781	33356177	Disease	p.Phe285Ser	176876.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	96	smart00194	NULL
5781	33356177	Disease	p.Phe285Ser	176876.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	13	pfam00102	NULL
5781	33356177	Disease	p.Phe285Ser	176876.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	77	COG5599	NULL
5781	33356177	Disease	p.Phe285Ser	176876.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME 1	OMIM	13	cd00047	NULL
79742	193804856	Disease	p.Phe285Ser	176876.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	MOVED TO 176876.0011	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Phe285Ser	176876.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	MOVED TO 176876.0011	OMIM	No Domain	N/A	193804854,NP_789789
5781	33356177	Disease	p.Gln79Arg	176876.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME	OMIM	107	pfam00017	NULL
5781	33356177	Disease	p.Gln79Arg	176876.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME	OMIM	337	smart00252	NULL
5781	33356177	Disease	p.Gln79Arg	176876.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME	OMIM	131	cd00173	NULL
5781	33356177	Disease	p.Thr411Met	176876.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME	OMIM	642	smart00194	NULL
5781	33356177	Disease	p.Thr411Met	176876.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME	OMIM	262	pfam00102	NULL
5781	33356177	Disease	p.Thr411Met	176876.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME	OMIM	85	COG2453	NULL
5781	33356177	Disease	p.Thr411Met	176876.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME	OMIM	257_G	COG5599	NULL
5781	33356177	Disease	p.Thr411Met	176876.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME	OMIM	460	cd00047	NULL
5781	33356177	Disease	p.Ala461Thr	176876.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	792	smart00194	NULL
5781	33356177	Disease	p.Ala461Thr	176876.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	360	pfam00102	NULL
5781	33356177	Disease	p.Ala461Thr	176876.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	143	COG2453	NULL
5781	33356177	Disease	p.Ala461Thr	176876.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	334	COG5599	NULL
5781	33356177	Disease	p.Ala461Thr	176876.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	238	smart00404	NULL
5781	33356177	Disease	p.Ala461Thr	176876.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	238	smart00012	NULL
5781	33356177	Disease	p.Ala461Thr	176876.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	567	cd00047	NULL
5781	33356177	Disease	p.Gly464Ala	176876.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	795	smart00194	NULL
5781	33356177	Disease	p.Gly464Ala	176876.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	363	pfam00102	NULL
5781	33356177	Disease	p.Gly464Ala	176876.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	146	COG2453	NULL
5781	33356177	Disease	p.Gly464Ala	176876.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	337	COG5599	NULL
5781	33356177	Disease	p.Gly464Ala	176876.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	241	smart00404	NULL
5781	33356177	Disease	p.Gly464Ala	176876.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	241	smart00012	NULL
5781	33356177	Disease	p.Gly464Ala	176876.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	570	cd00047	NULL
5781	33356177	Disease	p.Gln510Pro	176876.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	983	smart00194	NULL
5781	33356177	Disease	p.Gln510Pro	176876.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	430	pfam00102	NULL
5781	33356177	Disease	p.Gln510Pro	176876.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	189	COG2453	NULL
5781	33356177	Disease	p.Gln510Pro	176876.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	397	COG5599	NULL
5781	33356177	Disease	p.Gln510Pro	176876.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	362	smart00404	NULL
5781	33356177	Disease	p.Gln510Pro	176876.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	362	smart00012	NULL
5781	33356177	Disease	p.Gln510Pro	176876.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	LEOPARD SYNDROME	OMIM	716	cd00047	NULL
5781	33356177	Disease	p.Gln510Arg	176876.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME	OMIM	983	smart00194	NULL
5781	33356177	Disease	p.Gln510Arg	176876.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME	OMIM	430	pfam00102	NULL
5781	33356177	Disease	p.Gln510Arg	176876.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME	OMIM	189	COG2453	NULL
5781	33356177	Disease	p.Gln510Arg	176876.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME	OMIM	397	COG5599	NULL
5781	33356177	Disease	p.Gln510Arg	176876.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME	OMIM	362	smart00404	NULL
5781	33356177	Disease	p.Gln510Arg	176876.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME	OMIM	362	smart00012	NULL
5781	33356177	Disease	p.Gln510Arg	176876.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME	OMIM	716	cd00047	NULL
5781	33356177	Disease	p.Thr2Ile	176876.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876	NOONAN SYNDROME	OMIM	No Domain	N/A	NULL
5604	400274	Disease	p.Phe53Ser	176872.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	12	cd05095	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	176872.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	10	cd07876	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	176872.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	24	cd05622	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	176872.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	24	cd05596	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	176872.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	24	cd05621	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	176872.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	7	cd06639	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	176872.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd07877	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	176872.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	cd05091	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	176872.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	7	cd06658	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	176872.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	12	cd05097	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	176872.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	10	cd07875	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	176872.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	13	cd06659	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	176872.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	11	cd06655	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	176872.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	11	cd06656	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	176872.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	12	cd06654	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	176872.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	11	cd06614	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	176872.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	11	cd06647	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	176872.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	11	cd06648	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	176872.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	12	cd06657	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd07859	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05605	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05615	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05616	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd05587	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd05583	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05631	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05630	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd07857	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	95	cd07834	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	77	cd07853	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05632	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05045	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd05122	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd06651	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd05613	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd08528	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd06630	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd08223	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd08222	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd08219	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd08227	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd08221	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd07841	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd08529	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd07860	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd06627	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd07861	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd08530	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06631	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	130	cd06606	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd08217	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd07839	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05578	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd08220	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd08215	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd07836	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd08225	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd05614	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd07832	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd08218	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd06628	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	160	cd07842	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd07863	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05113	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06643	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd06637	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	94	cd06608	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	76	cd05038	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd08229	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd08228	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05083	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05089	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd05111	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	76	cd06616	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05059	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05114	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05112	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	95	cd05033	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd05584	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd05582	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05602	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	77	cd07838	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd07831	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	102	pfam00069	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd07829	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	298	smart00221	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd05118	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd07867	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	99	cd07830	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd05079	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd07835	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd07840	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd05080	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd05081	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	220	smart00219	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	101	pfam07714	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd05589	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd07852	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05625	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	97	cd07854	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05619	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05588	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05084	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05603	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05060	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05592	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05575	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05041	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05590	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	117	cd00192	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05040	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05058	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05116	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd05095	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd07876	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd05053	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd07874	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	91	cd06635	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05617	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05618	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd05633	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05586	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05577	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05607	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd05606	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05608	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05585	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05604	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05579	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd05570	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	178	cd00180	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05594	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05571	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05595	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05620	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	108	cd05572	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05044	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	100	cd05123	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd06632	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06626	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05085	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05591	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05047	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05593	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	109	cd05622	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	109	cd05596	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	81	cd06634	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	81	cd06607	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd07873	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd07845	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd07872	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd07864	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd05036	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd08216	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd08226	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	87	cd06633	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd06624	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd05611	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	109	cd05621	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd07880	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd07878	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	87	cd07851	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd06618	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	201	smart00220	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd07849	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd06652	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06641	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06640	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06642	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd05065	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd06653	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd06611	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd06639	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd07869	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06613	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd07870	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd07871	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd07844	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	76	cd06612	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd07877	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd05091	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd06646	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd06645	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd06658	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd05109	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd07866	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd05110	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd05088	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd07856	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd05108	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	124	cd05057	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd06644	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd06636	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	77_G	cd07865	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd05097	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	89	cd07875	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	366	COG0515	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05628	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd05600	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05609	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd06609	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd05598	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05626	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd06605	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd06623	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd08224	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd06619	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05627	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05612	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd07855	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05629	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd06917	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06617	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05623	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	87	cd05574	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05624	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	87	cd07833	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd07847	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd06610	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd06625	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	118	cd05581	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd07843	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd07846	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	95	cd07848	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05597	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05601	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd07837	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd07862	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd06622	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06621	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd06615	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	115	cd05580	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	121	cd05573	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd05599	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd06629	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05115	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd06659	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd06655	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd06656	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd06654	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	94	cd06614	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd06647	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd06648	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd06657	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd05061	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	102	cd05056	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05148	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd06620	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05071	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd05052	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd05066	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd05064	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd05063	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd06649	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd05048	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05039	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd05093	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd05092	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd05050	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd05049	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05069	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd05062	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd06650	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05034	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd05090	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05082	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd07858	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05067	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05072	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05068	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05070	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05073	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd05094	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	106	cd05032	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd07850	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	176872.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	81	cd06638	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd07859	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd05605	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05615	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05616	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd05587	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05583	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd05631	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd05630	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd07857	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	93	cd07834	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd07853	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd05632	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05045	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd05122	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06651	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05613	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd08528	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd06630	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd08223	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd08222	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd08219	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd08227	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd08221	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	78	cd07841	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd08529	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd07860	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06627	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd07861	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd08530	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06631	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	128	cd06606	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd08217	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd07839	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd05578	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd08220	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd08215	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd07836	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd08225	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05614	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd07832	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd08218	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd06628	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	158	cd07842	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd07863	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd05113	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06643	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd06637	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd06608	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd05038	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd08229	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd08228	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd05083	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05089	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd05111	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd06616	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd05059	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd05114	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd05112	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	93	cd05033	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd05584	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05582	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05602	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd07838	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd07831	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	100	pfam00069	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd07829	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	296	smart00221	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05118	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd07867	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	97	cd07830	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd05079	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd07835	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	90	cd07840	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd05080	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05081	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	218	smart00219	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	99	pfam07714	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05589	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd07852	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05625	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	95	cd07854	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05619	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05588	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05084	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05603	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05060	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05592	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05575	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd05041	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05590	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	115	cd00192	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd05040	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05058	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05116	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd05095	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd07876	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd05053	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd07874	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	89	cd06635	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05617	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05618	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05633	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05586	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05577	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05607	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05606	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05608	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05585	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05604	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05579	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd05570	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	176	cd00180	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05594	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05571	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05595	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05620	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	106	cd05572	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd05044	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	98	cd05123	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd06632	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06626	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05085	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05591	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05047	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05593	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	107	cd05622	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	107	cd05596	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd06634	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd06607	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd07873	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd07845	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd07872	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd07864	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd05036	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd08216	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd08226	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd06633	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd06624	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05611	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	107	cd05621	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	78	cd07880	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	78	cd07878	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd07851	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	78	cd06618	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	199	smart00220	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd07849	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06652	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06641	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06640	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06642	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05065	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06653	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06611	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	90	cd06639	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd07869	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06613	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd07870	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd07871	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd07844	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd06612	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd07877	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd05091	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd06646	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd06645	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd06658	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd05109	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd07866	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd05110	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd05088	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd07856	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd05108	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	122	cd05057	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd06644	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	77	cd06636	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	76	cd07865	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd05097	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	87	cd07875	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	364	COG0515	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05628	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05600	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05609	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	77	cd06609	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05598	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05626	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd06605	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd06623	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd08224	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd06619	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05627	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05612	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd07855	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05629	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd06917	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd06617	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05623	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd05574	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05624	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd07833	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd07847	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd06610	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06625	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	116	cd05581	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd07843	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd07846	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	93	cd07848	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05597	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05601	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd07837	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd07862	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd06622	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06621	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd06615	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	113	cd05580	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	119	cd05573	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd05599	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd06629	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05115	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd06659	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd06655	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd06656	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	81	cd06654	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd06614	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd06647	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd06648	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	81	cd06657	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd05061	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	100	cd05056	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05148	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd06620	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05071	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05052	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05066	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd05064	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd05063	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd06649	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd05048	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05039	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd05093	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd05092	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd05050	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd05049	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05069	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd05062	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd06650	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05034	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd05090	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd05082	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd07858	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05067	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05072	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05068	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05070	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05073	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd05094	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	104	cd05032	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd07850	5579478,NP_002746
5604	400274	Disease	p.Gly128Val	176872.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176872	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd06638	5579478,NP_002746
5443	116880	Disease	p.Arg236Gly	176830.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176830	OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	80861463,NP_001030333|4505949,NP_000930
5443	116880	Disease	p.Arg236Gly	176830.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176830	OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	80861463,NP_001030333|4505949,NP_000930
23787	7657345	Disease	p.Thr217Ile	176801.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176801	METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY	OMIM	29	pfam00153	NULL
23787	7657345	Disease	p.Cys241Ser	176801.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176801	METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY	OMIM	94	pfam00153	NULL
23787	7657345	Disease	p.Cys385Phe	176801.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176801	GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY	OMIM	No Domain	N/A	NULL
23787	7657345	Disease	p.Met1Leu	176801.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176801	COMBINED SAPOSIN DEFICIENCY||GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY	OMIM	No Domain	N/A	NULL
23787	7657345	Disease	p.Asn215His	176801.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176801	METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY	OMIM	27	pfam00153	NULL
23787	7657345	Disease	p.Cys382Gly	176801.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176801	GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY	OMIM	No Domain	N/A	NULL
23787	7657345	Disease	p.Leu349Pro	176801.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176801	GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY	OMIM	No Domain	N/A	NULL
7704	90109930	Disease	p.Met617Val	176797.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176797	SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION	OMIM	25	smart00355	66932932,NP_001018011|21359888,NP_005997
7704	90109930	Disease	p.Met617Val	176797.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176797	SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION	OMIM	25	smart00355	66932932,NP_001018011|21359888,NP_005997
3630	124617	Disease	p.Phe25Leu	176730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	INSULIN CHICAGO	OMIM	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe25Leu	176730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	INSULIN CHICAGO	OMIM	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe25Leu	176730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	INSULIN CHICAGO	OMIM	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe24Ser	176730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	INSULIN LOS ANGELES	OMIM	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe24Ser	176730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	INSULIN LOS ANGELES	OMIM	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe24Ser	176730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	INSULIN LOS ANGELES	OMIM	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.His10Asp	176730.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN PROVIDENCE	OMIM	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.His10Asp	176730.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN PROVIDENCE	OMIM	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.His10Asp	176730.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN PROVIDENCE	OMIM	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65His	176730.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	39	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65His	176730.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	117	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65His	176730.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	37	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65His	176730.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	36	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65His	176730.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	35_G	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65His	176730.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	41	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65His	176730.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	39	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65His	176730.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	117	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65His	176730.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	37	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65His	176730.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	36	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65His	176730.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	35_G	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65His	176730.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	41	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65His	176730.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	39	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65His	176730.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	117	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65His	176730.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	37	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65His	176730.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	36	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65His	176730.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	35_G	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65His	176730.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	41	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Val3Leu	176730.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	INSULIN WAKAYAMA||DIABETES MELLITUS WITH HYPERINSULINEMIA	OMIM	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Val3Leu	176730.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	INSULIN WAKAYAMA||DIABETES MELLITUS WITH HYPERINSULINEMIA	OMIM	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Val3Leu	176730.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	INSULIN WAKAYAMA||DIABETES MELLITUS WITH HYPERINSULINEMIA	OMIM	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Leu	176730.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN KYOTO	OMIM	39	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Leu	176730.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN KYOTO	OMIM	117	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Leu	176730.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN KYOTO	OMIM	37	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Leu	176730.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN KYOTO	OMIM	36	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Leu	176730.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN KYOTO	OMIM	35_G	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Leu	176730.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN KYOTO	OMIM	41	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Leu	176730.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN KYOTO	OMIM	39	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Leu	176730.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN KYOTO	OMIM	117	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Leu	176730.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN KYOTO	OMIM	37	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Leu	176730.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN KYOTO	OMIM	36	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Leu	176730.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN KYOTO	OMIM	35_G	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Leu	176730.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN KYOTO	OMIM	41	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Leu	176730.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN KYOTO	OMIM	39	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Leu	176730.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN KYOTO	OMIM	117	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Leu	176730.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN KYOTO	OMIM	37	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Leu	176730.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN KYOTO	OMIM	36	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Leu	176730.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN KYOTO	OMIM	35_G	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Leu	176730.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL||PROINSULIN KYOTO	OMIM	41	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Pro	176730.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	39	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Pro	176730.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	117	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Pro	176730.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	37	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Pro	176730.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	36	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Pro	176730.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	35_G	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Pro	176730.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	41	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Pro	176730.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	39	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Pro	176730.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	117	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Pro	176730.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	37	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Pro	176730.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	36	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Pro	176730.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	35_G	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Pro	176730.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	41	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Pro	176730.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	39	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Pro	176730.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	117	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Pro	176730.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	37	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Pro	176730.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	36	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Pro	176730.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	35_G	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg65Pro	176730.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	HYPERPROINSULINEMIA, FAMILIAL	OMIM	41	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	176730.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	5	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	176730.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	5	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	176730.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	3	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	176730.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	3	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	176730.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	7	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	176730.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	7	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	176730.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	5	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	176730.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	5	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	176730.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	3	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	176730.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	3	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	176730.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	7	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	176730.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	7	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	176730.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	5	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	176730.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	5	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	176730.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	3	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	176730.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	3	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	176730.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	7	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	176730.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	7	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	176730.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	17	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	176730.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	17	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	176730.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	15	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	176730.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	14	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	176730.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	18	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	176730.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	19	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	176730.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	17	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	176730.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	17	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	176730.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	15	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	176730.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	14	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	176730.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	18	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	176730.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	19	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	176730.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	17	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	176730.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	17	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	176730.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	15	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	176730.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	14	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	176730.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	18	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	176730.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	19	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	176730.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	135	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	176730.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	149	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	176730.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	147	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	176730.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	105	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	176730.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	44	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	176730.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	70	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	176730.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	135	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	176730.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	149	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	176730.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	147	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	176730.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	105	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	176730.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	44	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	176730.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	70	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	176730.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	135	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	176730.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	149	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	176730.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	147	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	176730.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	105	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	176730.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	44	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	176730.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	70	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	176730.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	142	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	176730.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	158	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	176730.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	154	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	176730.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	112	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	176730.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	51	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	176730.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	77	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	176730.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	142	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	176730.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	158	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	176730.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	154	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	176730.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	112	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	176730.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	51	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	176730.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	77	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	176730.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	142	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	176730.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	158	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	176730.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	154	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	176730.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	112	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	176730.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	51	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	176730.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	77	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Ala24Asp	176730.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Ala24Asp	176730.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Ala24Asp	176730.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	176730.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	22	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	176730.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	32	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	176730.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	20	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	176730.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	19	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	176730.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	23	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	176730.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	24	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	176730.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	22	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	176730.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	32	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	176730.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	20	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	176730.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	19	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	176730.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	23	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	176730.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	24	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	176730.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	22	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	176730.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	32	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	176730.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	20	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	176730.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	19	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	176730.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	23	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	176730.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, PERMANENT NEONATAL	OMIM	24	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg6Cys	176730.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg6Cys	176730.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg6Cys	176730.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	176730.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	20	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	176730.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	29	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	176730.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	18	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	176730.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	17	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	176730.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	21	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	176730.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	22	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	176730.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	20	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	176730.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	29	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	176730.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	18	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	176730.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	17	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	176730.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	21	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	176730.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	22	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	176730.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	20	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	176730.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	29	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	176730.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	18	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	176730.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	17	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	176730.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	21	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	176730.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10	OMIM	22	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	176730.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	OMIM	29	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	176730.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	OMIM	40	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	176730.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	OMIM	27	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	176730.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	OMIM	26	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	176730.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	OMIM	30	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	176730.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	OMIM	31	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	176730.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	OMIM	29	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	176730.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	OMIM	40	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	176730.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	OMIM	27	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	176730.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	OMIM	26	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	176730.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	OMIM	30	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	176730.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	OMIM	31	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	176730.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	OMIM	29	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	176730.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	OMIM	40	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	176730.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	OMIM	27	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	176730.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	OMIM	26	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	176730.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	OMIM	30	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	176730.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176730	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	OMIM	31	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
5621	130912	Disease	p.Pro102Leu	176640.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	123	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Pro102Leu	176640.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	123	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Pro102Leu	176640.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	123	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Pro102Leu	176640.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	123	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Pro102Leu	176640.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	123	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
79742	193804856	Disease	p.Pro102Leu	176640.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Pro102Leu	176640.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
5621	130912	Disease	p.Ala117Val	176640.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	138	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Ala117Val	176640.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	138	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Ala117Val	176640.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	138	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Ala117Val	176640.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	138	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Ala117Val	176640.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	138	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Met129Val	176640.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	PRION DISEASE, SUSCEPTIBILITY TO||ALZHEIMER DISEASE, EARLY-ONSET, SUSCEPTIBILITY TO||APHASIA, PRIMARY PROGRESSIVE, SUSCEPTIBILITY TO	OMIM	150	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Met129Val	176640.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	PRION DISEASE, SUSCEPTIBILITY TO||ALZHEIMER DISEASE, EARLY-ONSET, SUSCEPTIBILITY TO||APHASIA, PRIMARY PROGRESSIVE, SUSCEPTIBILITY TO	OMIM	150	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Met129Val	176640.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	PRION DISEASE, SUSCEPTIBILITY TO||ALZHEIMER DISEASE, EARLY-ONSET, SUSCEPTIBILITY TO||APHASIA, PRIMARY PROGRESSIVE, SUSCEPTIBILITY TO	OMIM	150	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Met129Val	176640.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	PRION DISEASE, SUSCEPTIBILITY TO||ALZHEIMER DISEASE, EARLY-ONSET, SUSCEPTIBILITY TO||APHASIA, PRIMARY PROGRESSIVE, SUSCEPTIBILITY TO	OMIM	150	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Met129Val	176640.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	PRION DISEASE, SUSCEPTIBILITY TO||ALZHEIMER DISEASE, EARLY-ONSET, SUSCEPTIBILITY TO||APHASIA, PRIMARY PROGRESSIVE, SUSCEPTIBILITY TO	OMIM	150	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu200Lys	176640.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA	OMIM	78	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu200Lys	176640.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA	OMIM	223	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu200Lys	176640.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA	OMIM	78	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu200Lys	176640.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA	OMIM	223	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu200Lys	176640.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA	OMIM	78	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu200Lys	176640.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA	OMIM	223	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu200Lys	176640.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA	OMIM	78	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu200Lys	176640.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA	OMIM	223	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu200Lys	176640.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA	OMIM	78	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu200Lys	176640.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA	OMIM	223	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	176640.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA	OMIM	46	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	176640.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA	OMIM	200	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	176640.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA	OMIM	46	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	176640.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA	OMIM	200	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	176640.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA	OMIM	46	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	176640.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA	OMIM	200	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	176640.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA	OMIM	46	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	176640.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA	OMIM	200	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	176640.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA	OMIM	46	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	176640.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||FATAL FAMILIAL INSOMNIA	OMIM	200	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
79742	193804856	Disease	p.Asp178Asn	176640.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Asp178Asn	176640.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
79742	193804856	Disease	p.Asp178Asn	176640.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Asp178Asn	176640.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
5621	130912	Disease	p.Asp178Asn	176640.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	FATAL FAMILIAL INSOMNIA||CREUTZFELDT-JAKOB DISEASE	OMIM	46	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	176640.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	FATAL FAMILIAL INSOMNIA||CREUTZFELDT-JAKOB DISEASE	OMIM	200	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	176640.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	FATAL FAMILIAL INSOMNIA||CREUTZFELDT-JAKOB DISEASE	OMIM	46	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	176640.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	FATAL FAMILIAL INSOMNIA||CREUTZFELDT-JAKOB DISEASE	OMIM	200	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	176640.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	FATAL FAMILIAL INSOMNIA||CREUTZFELDT-JAKOB DISEASE	OMIM	46	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	176640.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	FATAL FAMILIAL INSOMNIA||CREUTZFELDT-JAKOB DISEASE	OMIM	200	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	176640.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	FATAL FAMILIAL INSOMNIA||CREUTZFELDT-JAKOB DISEASE	OMIM	46	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	176640.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	FATAL FAMILIAL INSOMNIA||CREUTZFELDT-JAKOB DISEASE	OMIM	200	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	176640.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	FATAL FAMILIAL INSOMNIA||CREUTZFELDT-JAKOB DISEASE	OMIM	46	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	176640.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	FATAL FAMILIAL INSOMNIA||CREUTZFELDT-JAKOB DISEASE	OMIM	200	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Phe198Ser	176640.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	76	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Phe198Ser	176640.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	221	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Phe198Ser	176640.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	76	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Phe198Ser	176640.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	221	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Phe198Ser	176640.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	76	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Phe198Ser	176640.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	221	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Phe198Ser	176640.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	76	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Phe198Ser	176640.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	221	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Phe198Ser	176640.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	76	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Phe198Ser	176640.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	221	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gln217Arg	176640.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	95	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gln217Arg	176640.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	240	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gln217Arg	176640.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	95	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gln217Arg	176640.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	240	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gln217Arg	176640.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	95	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gln217Arg	176640.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	240	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gln217Arg	176640.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	95	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gln217Arg	176640.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	240	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gln217Arg	176640.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	95	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gln217Arg	176640.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	240	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
79742	193804856	Disease	p.Gln217Arg	176640.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Gln217Arg	176640.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
5621	130912	Disease	p.Val210Ile	176640.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	88	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val210Ile	176640.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	233	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val210Ile	176640.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	88	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val210Ile	176640.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	233	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val210Ile	176640.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	88	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val210Ile	176640.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	233	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val210Ile	176640.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	88	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val210Ile	176640.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	233	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val210Ile	176640.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	88	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val210Ile	176640.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	233	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Pro105Leu	176640.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	126	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Pro105Leu	176640.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	126	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Pro105Leu	176640.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	126	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Pro105Leu	176640.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	126	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Pro105Leu	176640.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	126	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val180Ile	176640.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	48	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val180Ile	176640.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	202	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val180Ile	176640.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	48	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val180Ile	176640.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	202	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val180Ile	176640.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	48	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val180Ile	176640.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	202	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val180Ile	176640.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	48	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val180Ile	176640.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	202	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val180Ile	176640.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	48	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val180Ile	176640.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	202	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Met232Arg	176640.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||DEMENTIA, LEWY BODY	OMIM	111	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Met232Arg	176640.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||DEMENTIA, LEWY BODY	OMIM	259	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Met232Arg	176640.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||DEMENTIA, LEWY BODY	OMIM	111	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Met232Arg	176640.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||DEMENTIA, LEWY BODY	OMIM	259	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Met232Arg	176640.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||DEMENTIA, LEWY BODY	OMIM	111	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Met232Arg	176640.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||DEMENTIA, LEWY BODY	OMIM	259	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Met232Arg	176640.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||DEMENTIA, LEWY BODY	OMIM	111	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Met232Arg	176640.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||DEMENTIA, LEWY BODY	OMIM	259	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Met232Arg	176640.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||DEMENTIA, LEWY BODY	OMIM	111	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Met232Arg	176640.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE||DEMENTIA, LEWY BODY	OMIM	259	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asn171Ser	176640.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES||EPILEPSY, FOCAL, DUE TO CORTICAL MALFORMATION, SUSCEPTIBILITY TO	OMIM	39	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asn171Ser	176640.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES||EPILEPSY, FOCAL, DUE TO CORTICAL MALFORMATION, SUSCEPTIBILITY TO	OMIM	193	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asn171Ser	176640.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES||EPILEPSY, FOCAL, DUE TO CORTICAL MALFORMATION, SUSCEPTIBILITY TO	OMIM	39	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asn171Ser	176640.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES||EPILEPSY, FOCAL, DUE TO CORTICAL MALFORMATION, SUSCEPTIBILITY TO	OMIM	193	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asn171Ser	176640.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES||EPILEPSY, FOCAL, DUE TO CORTICAL MALFORMATION, SUSCEPTIBILITY TO	OMIM	39	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asn171Ser	176640.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES||EPILEPSY, FOCAL, DUE TO CORTICAL MALFORMATION, SUSCEPTIBILITY TO	OMIM	193	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asn171Ser	176640.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES||EPILEPSY, FOCAL, DUE TO CORTICAL MALFORMATION, SUSCEPTIBILITY TO	OMIM	39	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asn171Ser	176640.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES||EPILEPSY, FOCAL, DUE TO CORTICAL MALFORMATION, SUSCEPTIBILITY TO	OMIM	193	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asn171Ser	176640.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES||EPILEPSY, FOCAL, DUE TO CORTICAL MALFORMATION, SUSCEPTIBILITY TO	OMIM	39	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asn171Ser	176640.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES||EPILEPSY, FOCAL, DUE TO CORTICAL MALFORMATION, SUSCEPTIBILITY TO	OMIM	193	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu219Lys	176640.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE, PROTECTION AGAINST	OMIM	97	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu219Lys	176640.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE, PROTECTION AGAINST	OMIM	242	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu219Lys	176640.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE, PROTECTION AGAINST	OMIM	97	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu219Lys	176640.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE, PROTECTION AGAINST	OMIM	242	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu219Lys	176640.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE, PROTECTION AGAINST	OMIM	97	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu219Lys	176640.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE, PROTECTION AGAINST	OMIM	242	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu219Lys	176640.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE, PROTECTION AGAINST	OMIM	97	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu219Lys	176640.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE, PROTECTION AGAINST	OMIM	242	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu219Lys	176640.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE, PROTECTION AGAINST	OMIM	97	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu219Lys	176640.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE, PROTECTION AGAINST	OMIM	242	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
79742	193804856	Disease	p.Glu219Lys	176640.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Glu219Lys	176640.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
5621	130912	Disease	p.Gly131Val	176640.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	152	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gly131Val	176640.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	152	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gly131Val	176640.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	152	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gly131Val	176640.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	152	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gly131Val	176640.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	152	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Thr183Ala	176640.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	51	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Thr183Ala	176640.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	206	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Thr183Ala	176640.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	51	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Thr183Ala	176640.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	206	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Thr183Ala	176640.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	51	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Thr183Ala	176640.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	206	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Thr183Ala	176640.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	51	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Thr183Ala	176640.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	206	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Thr183Ala	176640.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	51	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Thr183Ala	176640.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	206	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg208His	176640.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	86	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg208His	176640.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	231	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg208His	176640.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	86	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg208His	176640.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	231	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg208His	176640.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	86	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg208His	176640.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	231	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg208His	176640.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	86	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg208His	176640.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	231	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg208His	176640.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	86	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg208His	176640.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	CREUTZFELDT-JAKOB DISEASE	OMIM	231	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.His187Arg	176640.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE||SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	55	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.His187Arg	176640.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE||SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	210	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.His187Arg	176640.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE||SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	55	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.His187Arg	176640.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE||SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	210	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.His187Arg	176640.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE||SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	55	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.His187Arg	176640.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE||SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	210	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.His187Arg	176640.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE||SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	55	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.His187Arg	176640.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE||SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	210	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.His187Arg	176640.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE||SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	55	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.His187Arg	176640.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE||SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	210	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Pro105Thr	176640.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	126	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Pro105Thr	176640.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	126	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Pro105Thr	176640.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	126	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Pro105Thr	176640.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	126	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Pro105Thr	176640.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	OMIM	126	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Ala133Val	176640.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	154	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Ala133Val	176640.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	154	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Ala133Val	176640.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	154	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Ala133Val	176640.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	154	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Ala133Val	176640.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	154	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Pro105Ser	176640.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	126	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Pro105Ser	176640.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	126	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Pro105Ser	176640.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	126	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Pro105Ser	176640.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	126	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Pro105Ser	176640.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	GERSTMANN-STRAUSSLER DISEASE	OMIM	126	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gly127Val	176640.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	KURU, PROTECTION AGAINST	OMIM	148	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gly127Val	176640.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	KURU, PROTECTION AGAINST	OMIM	148	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gly127Val	176640.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	KURU, PROTECTION AGAINST	OMIM	148	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gly127Val	176640.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	KURU, PROTECTION AGAINST	OMIM	148	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gly127Val	176640.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640	KURU, PROTECTION AGAINST	OMIM	148	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
7276	136464	Disease	p.Val30Met	176300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	4	smart00095	4507725,NP_000362
7276	136464	Disease	p.Val30Met	176300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	4	COG2351	4507725,NP_000362
7276	136464	Disease	p.Val30Met	176300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	7	cd05821	4507725,NP_000362
7276	136464	Disease	p.Phe33Ile	176300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	7	smart00095	4507725,NP_000362
7276	136464	Disease	p.Phe33Ile	176300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	7	COG2351	4507725,NP_000362
7276	136464	Disease	p.Phe33Ile	176300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	4	cd05469	4507725,NP_000362
7276	136464	Disease	p.Phe33Ile	176300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	4	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Phe33Ile	176300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	10	cd05821	4507725,NP_000362
7276	136464	Disease	p.Leu58His	176300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	32	smart00095	4507725,NP_000362
7276	136464	Disease	p.Leu58His	176300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	40	COG2351	4507725,NP_000362
7276	136464	Disease	p.Leu58His	176300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	29	cd05822	4507725,NP_000362
7276	136464	Disease	p.Leu58His	176300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	29	cd05469	4507725,NP_000362
7276	136464	Disease	p.Leu58His	176300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	39	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Leu58His	176300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	35	cd05821	4507725,NP_000362
7276	136464	Disease	p.Thr60Ala	176300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	34	smart00095	4507725,NP_000362
7276	136464	Disease	p.Thr60Ala	176300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	44	COG2351	4507725,NP_000362
7276	136464	Disease	p.Thr60Ala	176300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	41	cd05822	4507725,NP_000362
7276	136464	Disease	p.Thr60Ala	176300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	31	cd05469	4507725,NP_000362
7276	136464	Disease	p.Thr60Ala	176300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	43	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Thr60Ala	176300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	37	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ser77Tyr	176300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	51	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ser77Tyr	176300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	64	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ser77Tyr	176300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	58	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ser77Tyr	176300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	49	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ser77Tyr	176300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	62	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ser77Tyr	176300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	54	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ile84Ser	176300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	58	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ile84Ser	176300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	71	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ile84Ser	176300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	89	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ile84Ser	176300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	57	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ile84Ser	176300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	69	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ile84Ser	176300.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	61	cd05821	4507725,NP_000362
7276	136464	Disease	p.Leu111Met	176300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	85	smart00095	4507725,NP_000362
7276	136464	Disease	p.Leu111Met	176300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	102	COG2351	4507725,NP_000362
7276	136464	Disease	p.Leu111Met	176300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	128	cd05822	4507725,NP_000362
7276	136464	Disease	p.Leu111Met	176300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	88	cd05469	4507725,NP_000362
7276	136464	Disease	p.Leu111Met	176300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	112	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Leu111Met	176300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	88	cd05821	4507725,NP_000362
7276	136464	Disease	p.Tyr116Val	176300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	TRANSTHYRETIN POLYMORPHISM	OMIM	90	smart00095	4507725,NP_000362
7276	136464	Disease	p.Tyr116Val	176300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	TRANSTHYRETIN POLYMORPHISM	OMIM	107	COG2351	4507725,NP_000362
7276	136464	Disease	p.Tyr116Val	176300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	TRANSTHYRETIN POLYMORPHISM	OMIM	133	cd05822	4507725,NP_000362
7276	136464	Disease	p.Tyr116Val	176300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	TRANSTHYRETIN POLYMORPHISM	OMIM	93	cd05469	4507725,NP_000362
7276	136464	Disease	p.Tyr116Val	176300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	TRANSTHYRETIN POLYMORPHISM	OMIM	117	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Tyr116Val	176300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	TRANSTHYRETIN POLYMORPHISM	OMIM	93	cd05821	4507725,NP_000362
7276	136464	Disease	p.Val122Ile	176300.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	96	smart00095	4507725,NP_000362
7276	136464	Disease	p.Val122Ile	176300.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	112_G	COG2351	4507725,NP_000362
7276	136464	Disease	p.Val122Ile	176300.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	145	cd05822	4507725,NP_000362
7276	136464	Disease	p.Val122Ile	176300.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	99	cd05469	4507725,NP_000362
7276	136464	Disease	p.Val122Ile	176300.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	123	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Val122Ile	176300.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	99	cd05821	4507725,NP_000362
7276	136464	Disease	p.His90Asn	176300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	64	smart00095	4507725,NP_000362
7276	136464	Disease	p.His90Asn	176300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	77	COG2351	4507725,NP_000362
7276	136464	Disease	p.His90Asn	176300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	95	cd05822	4507725,NP_000362
7276	136464	Disease	p.His90Asn	176300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	63	cd05469	4507725,NP_000362
7276	136464	Disease	p.His90Asn	176300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	75	pfam00576	4507725,NP_000362
7276	136464	Disease	p.His90Asn	176300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	67	cd05821	4507725,NP_000362
7276	136464	Disease	p.Tyr114Cys	176300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	88	smart00095	4507725,NP_000362
7276	136464	Disease	p.Tyr114Cys	176300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	105	COG2351	4507725,NP_000362
7276	136464	Disease	p.Tyr114Cys	176300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	131	cd05822	4507725,NP_000362
7276	136464	Disease	p.Tyr114Cys	176300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	91	cd05469	4507725,NP_000362
7276	136464	Disease	p.Tyr114Cys	176300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	115	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Tyr114Cys	176300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	91	cd05821	4507725,NP_000362
7276	136464	Disease	p.Glu42Gly	176300.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	16	smart00095	4507725,NP_000362
7276	136464	Disease	p.Glu42Gly	176300.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	24	COG2351	4507725,NP_000362
7276	136464	Disease	p.Glu42Gly	176300.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	13	cd05822	4507725,NP_000362
7276	136464	Disease	p.Glu42Gly	176300.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	13	cd05469	4507725,NP_000362
7276	136464	Disease	p.Glu42Gly	176300.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	13	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Glu42Gly	176300.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	19	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ser50Arg	176300.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	24	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ser50Arg	176300.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	32	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ser50Arg	176300.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	21	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ser50Arg	176300.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	21	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ser50Arg	176300.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	21	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ser50Arg	176300.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	27	cd05821	4507725,NP_000362
7276	136464	Disease	p.Val30Ala	176300.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	4	smart00095	4507725,NP_000362
7276	136464	Disease	p.Val30Ala	176300.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	4	COG2351	4507725,NP_000362
7276	136464	Disease	p.Val30Ala	176300.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	7	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ala109Thr	176300.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA	OMIM	83	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ala109Thr	176300.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA	OMIM	100	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ala109Thr	176300.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA	OMIM	126	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ala109Thr	176300.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA	OMIM	86	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ala109Thr	176300.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA	OMIM	110	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ala109Thr	176300.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA	OMIM	86	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ala36Pro	176300.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	10	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ala36Pro	176300.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	18	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ala36Pro	176300.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	7	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ala36Pro	176300.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	7	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ala36Pro	176300.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	13	cd05821	4507725,NP_000362
7276	136464	Disease	p.His90Asn	176300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	TRANSTHYRETIN POLYMORPHISM, ACIDIC	OMIM	64	smart00095	4507725,NP_000362
7276	136464	Disease	p.His90Asn	176300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	TRANSTHYRETIN POLYMORPHISM, ACIDIC	OMIM	77	COG2351	4507725,NP_000362
7276	136464	Disease	p.His90Asn	176300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	TRANSTHYRETIN POLYMORPHISM, ACIDIC	OMIM	95	cd05822	4507725,NP_000362
7276	136464	Disease	p.His90Asn	176300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	TRANSTHYRETIN POLYMORPHISM, ACIDIC	OMIM	63	cd05469	4507725,NP_000362
7276	136464	Disease	p.His90Asn	176300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	TRANSTHYRETIN POLYMORPHISM, ACIDIC	OMIM	75	pfam00576	4507725,NP_000362
7276	136464	Disease	p.His90Asn	176300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	TRANSTHYRETIN POLYMORPHISM, ACIDIC	OMIM	67	cd05821	4507725,NP_000362
7276	136464	Disease	p.Thr119Met	176300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF	OMIM	93	smart00095	4507725,NP_000362
7276	136464	Disease	p.Thr119Met	176300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF	OMIM	110	COG2351	4507725,NP_000362
7276	136464	Disease	p.Thr119Met	176300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF	OMIM	136	cd05822	4507725,NP_000362
7276	136464	Disease	p.Thr119Met	176300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF	OMIM	96	cd05469	4507725,NP_000362
7276	136464	Disease	p.Thr119Met	176300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF	OMIM	120	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Thr119Met	176300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF	OMIM	96	cd05821	4507725,NP_000362
7276	136464	Disease	p.Leu58Arg	176300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	32	smart00095	4507725,NP_000362
7276	136464	Disease	p.Leu58Arg	176300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	40	COG2351	4507725,NP_000362
7276	136464	Disease	p.Leu58Arg	176300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	29	cd05822	4507725,NP_000362
7276	136464	Disease	p.Leu58Arg	176300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	29	cd05469	4507725,NP_000362
7276	136464	Disease	p.Leu58Arg	176300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	39	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Leu58Arg	176300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	35	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ala45Thr	176300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	19	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ala45Thr	176300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	27	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ala45Thr	176300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	16	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ala45Thr	176300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	16	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ala45Thr	176300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	16	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ala45Thr	176300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	22	cd05821	4507725,NP_000362
7276	136464	Disease	p.Leu55Pro	176300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	29	smart00095	4507725,NP_000362
7276	136464	Disease	p.Leu55Pro	176300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	37	COG2351	4507725,NP_000362
7276	136464	Disease	p.Leu55Pro	176300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	26	cd05822	4507725,NP_000362
7276	136464	Disease	p.Leu55Pro	176300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	26	cd05469	4507725,NP_000362
7276	136464	Disease	p.Leu55Pro	176300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	36	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Leu55Pro	176300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	32	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ser50Ile	176300.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	24	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ser50Ile	176300.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	32	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ser50Ile	176300.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	21	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ser50Ile	176300.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	21	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ser50Ile	176300.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	21	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ser50Ile	176300.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	27	cd05821	4507725,NP_000362
7276	136464	Disease	p.Val30Leu	176300.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	4	smart00095	4507725,NP_000362
7276	136464	Disease	p.Val30Leu	176300.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	4	COG2351	4507725,NP_000362
7276	136464	Disease	p.Val30Leu	176300.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	7	cd05821	4507725,NP_000362
7276	136464	Disease	p.Thr49Ala	176300.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	23	smart00095	4507725,NP_000362
7276	136464	Disease	p.Thr49Ala	176300.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	31	COG2351	4507725,NP_000362
7276	136464	Disease	p.Thr49Ala	176300.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	20	cd05822	4507725,NP_000362
7276	136464	Disease	p.Thr49Ala	176300.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	20	cd05469	4507725,NP_000362
7276	136464	Disease	p.Thr49Ala	176300.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	20	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Thr49Ala	176300.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	26	cd05821	4507725,NP_000362
7276	136464	Disease	p.Glu89Gln	176300.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	63	smart00095	4507725,NP_000362
7276	136464	Disease	p.Glu89Gln	176300.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	76	COG2351	4507725,NP_000362
7276	136464	Disease	p.Glu89Gln	176300.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	94	cd05822	4507725,NP_000362
7276	136464	Disease	p.Glu89Gln	176300.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	62	cd05469	4507725,NP_000362
7276	136464	Disease	p.Glu89Gln	176300.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	74	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Glu89Gln	176300.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	66	cd05821	4507725,NP_000362
7276	136464	Disease	p.Lys70Asn	176300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	44	smart00095	4507725,NP_000362
7276	136464	Disease	p.Lys70Asn	176300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	54	COG2351	4507725,NP_000362
7276	136464	Disease	p.Lys70Asn	176300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	51	cd05822	4507725,NP_000362
7276	136464	Disease	p.Lys70Asn	176300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	42	cd05469	4507725,NP_000362
7276	136464	Disease	p.Lys70Asn	176300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	53	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Lys70Asn	176300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	47	cd05821	4507725,NP_000362
7276	136464	Disease	p.Cys10Arg	176300.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	No Domain	N/A	4507725,NP_000362
7276	136464	Disease	p.Val71Ala	176300.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	45	smart00095	4507725,NP_000362
7276	136464	Disease	p.Val71Ala	176300.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	55	COG2351	4507725,NP_000362
7276	136464	Disease	p.Val71Ala	176300.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	52	cd05822	4507725,NP_000362
7276	136464	Disease	p.Val71Ala	176300.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	43	cd05469	4507725,NP_000362
7276	136464	Disease	p.Val71Ala	176300.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	54	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Val71Ala	176300.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	48	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ile68Leu	176300.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	42	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ile68Leu	176300.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	52	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ile68Leu	176300.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	49	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ile68Leu	176300.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	40	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ile68Leu	176300.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	51	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ile68Leu	176300.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	45	cd05821	4507725,NP_000362
7276	136464	Disease	p.Glu61Lys	176300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	35	smart00095	4507725,NP_000362
7276	136464	Disease	p.Glu61Lys	176300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	45	COG2351	4507725,NP_000362
7276	136464	Disease	p.Glu61Lys	176300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	42	cd05822	4507725,NP_000362
7276	136464	Disease	p.Glu61Lys	176300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	33	cd05469	4507725,NP_000362
7276	136464	Disease	p.Glu61Lys	176300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	44	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Glu61Lys	176300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	38	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ala97Gly	176300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	71	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ala97Gly	176300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	84	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ala97Gly	176300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	102	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ala97Gly	176300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	70	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ala97Gly	176300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	82	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ala97Gly	176300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	74	cd05821	4507725,NP_000362
7276	136464	Disease	p.Tyr114His	176300.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	CARPAL TUNNEL SYNDROME, FAMILIAL	OMIM	88	smart00095	4507725,NP_000362
7276	136464	Disease	p.Tyr114His	176300.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	CARPAL TUNNEL SYNDROME, FAMILIAL	OMIM	105	COG2351	4507725,NP_000362
7276	136464	Disease	p.Tyr114His	176300.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	CARPAL TUNNEL SYNDROME, FAMILIAL	OMIM	131	cd05822	4507725,NP_000362
7276	136464	Disease	p.Tyr114His	176300.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	CARPAL TUNNEL SYNDROME, FAMILIAL	OMIM	91	cd05469	4507725,NP_000362
7276	136464	Disease	p.Tyr114His	176300.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	CARPAL TUNNEL SYNDROME, FAMILIAL	OMIM	115	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Tyr114His	176300.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	CARPAL TUNNEL SYNDROME, FAMILIAL	OMIM	91	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ile107Val	176300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	81	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ile107Val	176300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	98	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ile107Val	176300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	124	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ile107Val	176300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	84	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ile107Val	176300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	108	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ile107Val	176300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	84	cd05821	4507725,NP_000362
7276	136464	Disease	p.Gly47Ala	176300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	21	smart00095	4507725,NP_000362
7276	136464	Disease	p.Gly47Ala	176300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	29	COG2351	4507725,NP_000362
7276	136464	Disease	p.Gly47Ala	176300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	18	cd05822	4507725,NP_000362
7276	136464	Disease	p.Gly47Ala	176300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	18	cd05469	4507725,NP_000362
7276	136464	Disease	p.Gly47Ala	176300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	18	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Gly47Ala	176300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	24	cd05821	4507725,NP_000362
7276	136464	Disease	p.Gly6Ser	176300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	TRANSTHYRETIN POLYMORPHISM	OMIM	No Domain	N/A	4507725,NP_000362
7276	136464	Disease	p.Phe64Leu	176300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	38	smart00095	4507725,NP_000362
7276	136464	Disease	p.Phe64Leu	176300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	48	COG2351	4507725,NP_000362
7276	136464	Disease	p.Phe64Leu	176300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	45	cd05822	4507725,NP_000362
7276	136464	Disease	p.Phe64Leu	176300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	36	cd05469	4507725,NP_000362
7276	136464	Disease	p.Phe64Leu	176300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	47	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Phe64Leu	176300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	41	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ala109Val	176300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA	OMIM	83	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ala109Val	176300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA	OMIM	100	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ala109Val	176300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA	OMIM	126	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ala109Val	176300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA	OMIM	86	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ala109Val	176300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA	OMIM	110	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ala109Val	176300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA	OMIM	86	cd05821	4507725,NP_000362
7276	136464	Disease	p.Val20Ile	176300.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	No Domain	N/A	4507725,NP_000362
7276	136464	Disease	p.Phe33Leu	176300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	7	smart00095	4507725,NP_000362
7276	136464	Disease	p.Phe33Leu	176300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	7	COG2351	4507725,NP_000362
7276	136464	Disease	p.Phe33Leu	176300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	4	cd05469	4507725,NP_000362
7276	136464	Disease	p.Phe33Leu	176300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	4	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Phe33Leu	176300.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	10	cd05821	4507725,NP_000362
7276	136464	Disease	p.Leu12Pro	176300.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	No Domain	N/A	4507725,NP_000362
7276	136464	Disease	p.Arg104His	176300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	78	smart00095	4507725,NP_000362
7276	136464	Disease	p.Arg104His	176300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	95	COG2351	4507725,NP_000362
7276	136464	Disease	p.Arg104His	176300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	121	cd05822	4507725,NP_000362
7276	136464	Disease	p.Arg104His	176300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	81	cd05469	4507725,NP_000362
7276	136464	Disease	p.Arg104His	176300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	89	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Arg104His	176300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	81	cd05821	4507725,NP_000362
7276	136464	Disease	p.Phe44Ser	176300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	18	smart00095	4507725,NP_000362
7276	136464	Disease	p.Phe44Ser	176300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	26	COG2351	4507725,NP_000362
7276	136464	Disease	p.Phe44Ser	176300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	15	cd05822	4507725,NP_000362
7276	136464	Disease	p.Phe44Ser	176300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	15	cd05469	4507725,NP_000362
7276	136464	Disease	p.Phe44Ser	176300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	15	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Phe44Ser	176300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	21	cd05821	4507725,NP_000362
7276	136464	Disease	p.Gly53Glu	176300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	27	smart00095	4507725,NP_000362
7276	136464	Disease	p.Gly53Glu	176300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	35	COG2351	4507725,NP_000362
7276	136464	Disease	p.Gly53Glu	176300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	24	cd05822	4507725,NP_000362
7276	136464	Disease	p.Gly53Glu	176300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	24	cd05469	4507725,NP_000362
7276	136464	Disease	p.Gly53Glu	176300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	34	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Gly53Glu	176300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	30	cd05821	4507725,NP_000362
7276	136464	Disease	p.Asp18Gly	176300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	No Domain	N/A	4507725,NP_000362
7276	136464	Disease	p.Phe64Ser	176300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	38	smart00095	4507725,NP_000362
7276	136464	Disease	p.Phe64Ser	176300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	48	COG2351	4507725,NP_000362
7276	136464	Disease	p.Phe64Ser	176300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	45	cd05822	4507725,NP_000362
7276	136464	Disease	p.Phe64Ser	176300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	36	cd05469	4507725,NP_000362
7276	136464	Disease	p.Phe64Ser	176300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	47	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Phe64Ser	176300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	41	cd05821	4507725,NP_000362
7276	136464	Disease	p.Val30Gly	176300.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	4	smart00095	4507725,NP_000362
7276	136464	Disease	p.Val30Gly	176300.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	4	COG2351	4507725,NP_000362
7276	136464	Disease	p.Val30Gly	176300.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	7	cd05821	4507725,NP_000362
7276	136464	Disease	p.Tyr69His	176300.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	43	smart00095	4507725,NP_000362
7276	136464	Disease	p.Tyr69His	176300.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	53	COG2351	4507725,NP_000362
7276	136464	Disease	p.Tyr69His	176300.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	50	cd05822	4507725,NP_000362
7276	136464	Disease	p.Tyr69His	176300.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	41	cd05469	4507725,NP_000362
7276	136464	Disease	p.Tyr69His	176300.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	52	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Tyr69His	176300.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	46	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ala25Thr	176300.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	OMIM	2	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ala97Ser	176300.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	71	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ala97Ser	176300.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	84	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ala97Ser	176300.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	102	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ala97Ser	176300.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	70	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ala97Ser	176300.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	82	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ala97Ser	176300.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176300	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	OMIM	74	cd05821	4507725,NP_000362
3741	146345443	Disease	p.Thr527Met	176267.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176267	ATRIAL FIBRILLATION, FAMILIAL, 7	OMIM	No Domain	N/A	25952087,NP_002225
3741	146345443	Disease	p.Ala576Val	176267.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176267	ATRIAL FIBRILLATION, FAMILIAL, 7	OMIM	No Domain	N/A	25952087,NP_002225
3741	146345443	Disease	p.Glu610Lys	176267.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176267	ATRIAL FIBRILLATION, FAMILIAL, 7	OMIM	No Domain	N/A	25952087,NP_002225
3748	212276500	Disease	p.Arg420His	176264.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176264	SPINOCEREBELLAR ATAXIA 13	OMIM	139	pfam00520	24497460,NP_004968
3748	212276500	Disease	p.Phe448Leu	176264.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176264	SPINOCEREBELLAR ATAXIA 13	OMIM	180	pfam00520	24497460,NP_004968
3753	116416	Disease	p.Thr59Pro	176261.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261	JERVELL AND LANGE-NIELSEN SYNDROME 2	OMIM	60	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Thr59Pro	176261.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261	JERVELL AND LANGE-NIELSEN SYNDROME 2	OMIM	60	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Thr59Pro	176261.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261	JERVELL AND LANGE-NIELSEN SYNDROME 2	OMIM	60	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Thr59Pro	176261.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261	JERVELL AND LANGE-NIELSEN SYNDROME 2	OMIM	60	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Thr7Ile	176261.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261	JERVELL AND LANGE-NIELSEN SYNDROME 2	OMIM	7	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Thr7Ile	176261.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261	JERVELL AND LANGE-NIELSEN SYNDROME 2	OMIM	7	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Thr7Ile	176261.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261	JERVELL AND LANGE-NIELSEN SYNDROME 2	OMIM	7	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Thr7Ile	176261.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261	JERVELL AND LANGE-NIELSEN SYNDROME 2	OMIM	7	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Asp76Asn	176261.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261	JERVELL AND LANGE-NIELSEN SYNDROME 2||LONG QT SYNDROME 5	OMIM	77	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Asp76Asn	176261.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261	JERVELL AND LANGE-NIELSEN SYNDROME 2||LONG QT SYNDROME 5	OMIM	77	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Asp76Asn	176261.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261	JERVELL AND LANGE-NIELSEN SYNDROME 2||LONG QT SYNDROME 5	OMIM	77	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Asp76Asn	176261.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261	JERVELL AND LANGE-NIELSEN SYNDROME 2||LONG QT SYNDROME 5	OMIM	77	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Ser74Leu	176261.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261	LONG QT SYNDROME 5	OMIM	75	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Ser74Leu	176261.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261	LONG QT SYNDROME 5	OMIM	75	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Ser74Leu	176261.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261	LONG QT SYNDROME 5	OMIM	75	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Ser74Leu	176261.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261	LONG QT SYNDROME 5	OMIM	75	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Asp85Asn	176261.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261	LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO||LONG QT SYNDROME 2/5, DIGENIC	OMIM	86	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Asp85Asn	176261.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261	LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO||LONG QT SYNDROME 2/5, DIGENIC	OMIM	86	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Asp85Asn	176261.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261	LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO||LONG QT SYNDROME 2/5, DIGENIC	OMIM	86	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Asp85Asn	176261.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261	LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO||LONG QT SYNDROME 2/5, DIGENIC	OMIM	86	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3736	223590092	Disease	p.Val408Ala	176260.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176260	EPISODIC ATAXIA, TYPE 1	OMIM	No Domain	N/A	119395748,NP_000208
3736	223590092	Disease	p.Arg239Ser	176260.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176260	EPISODIC ATAXIA, TYPE 1	OMIM	17	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Val174Phe	176260.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176260	EPISODIC ATAXIA, TYPE 1	OMIM	No Domain	N/A	119395748,NP_000208
3736	223590092	Disease	p.Phe249Ile	176260.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176260	EPISODIC ATAXIA, TYPE 1	OMIM	48	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Phe184Cys	176260.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176260	EPISODIC ATAXIA, TYPE 1	OMIM	No Domain	N/A	119395748,NP_000208
3736	223590092	Disease	p.Glu325Asp	176260.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176260	EPISODIC ATAXIA, TYPE 1	OMIM	179	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Thr226Ala	176260.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176260	EPISODIC ATAXIA, TYPE 1	OMIM	4	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Val404Ile	176260.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176260	EPISODIC ATAXIA, TYPE 1	OMIM	97	pfam07885	119395748,NP_000208
3736	223590092	Disease	p.Val404Ile	176260.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176260	EPISODIC ATAXIA, TYPE 1	OMIM	404	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Ile176Arg	176260.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176260	EPISODIC ATAXIA, TYPE 1	OMIM	No Domain	N/A	119395748,NP_000208
3736	223590092	Disease	p.Ala242Pro	176260.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176260	MYOKYMIA 1	OMIM	20	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Pro244His	176260.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176260	MYOKYMIA 1	OMIM	22	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Thr226Arg	176260.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176260	EPISODIC ATAXIA, TYPE 1	OMIM	4	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Thr226Lys	176260.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176260	MYOKYMIA 1	OMIM	4	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Asn255Asp	176260.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176260	MYOKYMIA 1 WITH HYPOMAGNESEMIA	OMIM	54	pfam00520	119395748,NP_000208
5428	1706507	Disease	p.Tyr955Cys	174763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM	OMIM	532	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Tyr955Cys	174763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM	OMIM	124	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Tyr955Cys	174763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM	OMIM	241	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Tyr955Cys	174763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM	OMIM	607	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Tyr955Cys	174763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM	OMIM	532	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Tyr955Cys	174763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM	OMIM	124	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Tyr955Cys	174763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM	OMIM	241	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Tyr955Cys	174763.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM	OMIM	607	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala467Thr	174763.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE||SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS||SPINOCEREBELLAR ATAXIA WITH EPILEPSY||ALPERS SYNDROME	OMIM	39	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala467Thr	174763.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE||SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS||SPINOCEREBELLAR ATAXIA WITH EPILEPSY||ALPERS SYNDROME	OMIM	27	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala467Thr	174763.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE||SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS||SPINOCEREBELLAR ATAXIA WITH EPILEPSY||ALPERS SYNDROME	OMIM	39	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala467Thr	174763.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE||SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS||SPINOCEREBELLAR ATAXIA WITH EPILEPSY||ALPERS SYNDROME	OMIM	27	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Leu304Arg	174763.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Leu304Arg	174763.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg3Pro	174763.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg3Pro	174763.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg627Trp	174763.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	199	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg627Trp	174763.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	187	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg627Trp	174763.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	199	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg627Trp	174763.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	187	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly848Ser	174763.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC||ALPERS SYNDROME||MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY	OMIM	425	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly848Ser	174763.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC||ALPERS SYNDROME||MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY	OMIM	126	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly848Ser	174763.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC||ALPERS SYNDROME||MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY	OMIM	408	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly848Ser	174763.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC||ALPERS SYNDROME||MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY	OMIM	425	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly848Ser	174763.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC||ALPERS SYNDROME||MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY	OMIM	126	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly848Ser	174763.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC||ALPERS SYNDROME||MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY	OMIM	408	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Thr251Ile	174763.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE||MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY	OMIM	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Thr251Ile	174763.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE||MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY	OMIM	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.His932Tyr	174763.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	509	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.His932Tyr	174763.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	84	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.His932Tyr	174763.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	218	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.His932Tyr	174763.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	552	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.His932Tyr	174763.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	509	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.His932Tyr	174763.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	84	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.His932Tyr	174763.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	218	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.His932Tyr	174763.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	552	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly1051Arg	174763.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	668	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly1051Arg	174763.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	348	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly1051Arg	174763.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	337	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly1051Arg	174763.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	728	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly1051Arg	174763.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	668	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly1051Arg	174763.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	348	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly1051Arg	174763.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	337	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly1051Arg	174763.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS	OMIM	728	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Pro587Leu	174763.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM	OMIM	159	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Pro587Leu	174763.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM	OMIM	147	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Pro587Leu	174763.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM	OMIM	159	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Pro587Leu	174763.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM	OMIM	147	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Asn864Ser	174763.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY	OMIM	441	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Asn864Ser	174763.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY	OMIM	142	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Asn864Ser	174763.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY	OMIM	424	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Asn864Ser	174763.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY	OMIM	441	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Asn864Ser	174763.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY	OMIM	142	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Asn864Ser	174763.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY	OMIM	424	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Trp748Ser	174763.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS||SPINOCEREBELLAR ATAXIA WITH EPILEPSY||ALPERS SYNDROME	OMIM	320	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Trp748Ser	174763.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS||SPINOCEREBELLAR ATAXIA WITH EPILEPSY||ALPERS SYNDROME	OMIM	19	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Trp748Ser	174763.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS||SPINOCEREBELLAR ATAXIA WITH EPILEPSY||ALPERS SYNDROME	OMIM	308	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Trp748Ser	174763.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS||SPINOCEREBELLAR ATAXIA WITH EPILEPSY||ALPERS SYNDROME	OMIM	320	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Trp748Ser	174763.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS||SPINOCEREBELLAR ATAXIA WITH EPILEPSY||ALPERS SYNDROME	OMIM	19	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Trp748Ser	174763.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS||SPINOCEREBELLAR ATAXIA WITH EPILEPSY||ALPERS SYNDROME	OMIM	308	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala957Ser	174763.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1	OMIM	534	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala957Ser	174763.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1	OMIM	126	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala957Ser	174763.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1	OMIM	243	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala957Ser	174763.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1	OMIM	609	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala957Ser	174763.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1	OMIM	534	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala957Ser	174763.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1	OMIM	126	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala957Ser	174763.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1	OMIM	243	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala957Ser	174763.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1	OMIM	609	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Tyr831Cys	174763.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1	OMIM	408	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Tyr831Cys	174763.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1	OMIM	109	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Tyr831Cys	174763.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1	OMIM	391	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Tyr831Cys	174763.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1	OMIM	408	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Tyr831Cys	174763.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1	OMIM	109	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Tyr831Cys	174763.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1	OMIM	391	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gln497His	174763.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SPINOCEREBELLAR ATAXIA WITH EPILEPSY	OMIM	69	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gln497His	174763.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SPINOCEREBELLAR ATAXIA WITH EPILEPSY	OMIM	57	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gln497His	174763.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SPINOCEREBELLAR ATAXIA WITH EPILEPSY	OMIM	69	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gln497His	174763.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	SPINOCEREBELLAR ATAXIA WITH EPILEPSY	OMIM	57	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg853Trp	174763.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	OMIM	430	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg853Trp	174763.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	OMIM	131	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg853Trp	174763.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	OMIM	413	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg853Trp	174763.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	OMIM	430	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg853Trp	174763.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	OMIM	131	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg853Trp	174763.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	OMIM	413	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly737Arg	174763.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	OMIM	309	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly737Arg	174763.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	OMIM	8	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly737Arg	174763.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	OMIM	297	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly737Arg	174763.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	OMIM	309	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly737Arg	174763.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	OMIM	8	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly737Arg	174763.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	OMIM	297	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ser511Asn	174763.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1	OMIM	83	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ser511Asn	174763.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1	OMIM	71	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ser511Asn	174763.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1	OMIM	83	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ser511Asn	174763.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1	OMIM	71	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg227Trp	174763.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY	OMIM	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg227Trp	174763.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME WITHOUT LEUKOENCEPHALOPATHY	OMIM	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Pro1073Leu	174763.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	ALPERS SYNDROME	OMIM	690	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Pro1073Leu	174763.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	ALPERS SYNDROME	OMIM	377	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Pro1073Leu	174763.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	ALPERS SYNDROME	OMIM	359	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Pro1073Leu	174763.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	ALPERS SYNDROME	OMIM	750	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Pro1073Leu	174763.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	ALPERS SYNDROME	OMIM	690	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Pro1073Leu	174763.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	ALPERS SYNDROME	OMIM	377	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Pro1073Leu	174763.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	ALPERS SYNDROME	OMIM	359	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Pro1073Leu	174763.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174763	ALPERS SYNDROME	OMIM	750	cd06444	187171277,NP_001119603|4505937,NP_002684
25865	120659785	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	6	cd05621	NULL
25865	120659782	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	6	cd05621	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd05600	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	115	cd05603	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd05078	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd05060	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	125	cd05599	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	115	cd05619	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	115	cd05594	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	120	cd05627	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	123	cd05040	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd05601	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	176	cd05573	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	115	cd05590	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	124	cd05583	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	137	cd05613	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	113	cd05085	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	115	cd05041	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	141	cd07833	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	129	cd08220	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	123	cd06631	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	138	cd06632	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	235	cd05581	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	125	cd06625	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	125	cd08530	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	142	cd05035	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	118	cd07839	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd05631	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	117	cd05582	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	124	cd05058	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	114	cd05116	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	122	cd06630	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	328	cd00192	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	114	cd05593	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	120	cd05616	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	115	cd05591	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	130	cd05592	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	115	cd05571	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	125	cd05587	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	131_G	cd05044	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	113	cd05084	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	130	cd05620	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	115	cd05575	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	117	cd05570	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	124	cd05614	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	115	cd05588	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	120	cd05628	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	115	cd05604	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	115	cd05602	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	114	cd05595	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	115	cd05618	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	115	cd05617	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	126	cd05080	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	223	cd07842	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	126	cd06627	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd08223	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	157	cd08215	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	119	cd08219	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	134	cd06612	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	124	cd08217	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	120	cd08225	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	128	cd07857	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd05605	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	134	cd07832	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	153	cd05122	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	122	cd07859	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	128	cd05079	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	162	cd07834	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	142	cd08528	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	143	cd07865	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	147	cd07855	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	124	cd06620	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	139	cd07850	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	145	cd07875	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	135	cd06648	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	138	cd07874	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	258	cd05055	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	127	cd05063	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	140	cd07845	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	157	cd05033	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	125	cd08228	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	126	cd08224	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	149	cd06652	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	142	cd05574	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	125	cd05066	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	123	cd05052	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	125	cd08229	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd05070	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	122	cd07870	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	128	cd05111	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	122	cd07869	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	129	cd07849	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	145	cd07854	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	128	cd05109	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	123	cd07844	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	128	cd05108	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	128	cd05110	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	125	cd05065	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	155	cd05056	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	124	cd06611	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	128	cd07858	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	128	cd07852	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	122	cd05073	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	161	cd05596	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	161	cd05622	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	137	cd07843	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	139	cd07877	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	137	cd06658	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	140	cd06636	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	142	cd07876	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	125	cd06645	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	137	cd07864	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	183	cd05032	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	181	cd05057	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	116	cd05611	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	112	cd05585	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	635	cd05123	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	116	cd05608	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	115	cd05586	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	115	cd05579	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	119	cd05577	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	187	cd05572	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	349	cd00180	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	114	cd05607	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	114	cd05115	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	137	cd06618	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	147	cd07879	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	137	cd07878	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	153	cd07851	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	136	cd06659	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	129	cd06621	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	145	cd07835	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	129	cd06629	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	145	cd07838	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	159	cd07829	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	171	cd07830	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	129	cd07862	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	128	cd05118	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	168	cd07840	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	120	cd07831	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121_G	cd06615	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	139	cd05061	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	137	cd06605	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd05071	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	137	cd05036	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	519	COG0515	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	123	cd06617	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	161	cd05043	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	125	cd06651	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	135	cd06619	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd05067	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	122	cd05072	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd05623	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	162	cd06608	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	125	cd08529	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	122	cd08216	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	127	cd05081	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	122	cd06649	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	147	cd05038	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd05069	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	140	cd06633	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	134	cd06656	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	134	cd06655	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	129	cd06644	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	392	smart00220	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	154	cd06639	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	123	cd07873	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	120	cd06641	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	180	cd05051	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	123	cd07872	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	125	cd06646	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	120	cd06642	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	143	cd06638	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	130	cd06637	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	150	cd07866	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	134	cd06634	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	134	cd06607	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	126	cd05064	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	124	cd05068	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	200	pfam00069	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	119	cd07860	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	403	smart00219	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	485	smart00221	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	273	pfam07714	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd05059	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	122	cd06643	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	127	cd07868	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	127	cd07867	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	132	cd05074	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	119	cd05112	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	119	cd05114	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	120	cd05113	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd06626	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	134	cd06622	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	123	cd05584	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	124	cd05148	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	161	cd05621	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd08221	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	120	cd05578	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	116	cd05633	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	117	cd05606	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	120	cd05589	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	135	cd06654	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	122	cd07871	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	132	cd06624	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	127	cd07856	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	119	cd05083	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	146	cd05048	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	122	cd06613	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd05082	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	146	cd05049	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	144	cd06635	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	135	cd06657	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	148	cd07848	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	120	cd07846	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	131	cd06610	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	142	cd06609	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd05630	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	125	cd07847	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	137	cd07837	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	120	cd05612	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd05597	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd05624	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	129	cd06917	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	173	cd05580	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	133	cd06616	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	120	cd05629	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd05632	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	125	cd06653	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	120	cd06640	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	137	cd07880	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd07861	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	200	cd06606	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	126	cd08222	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	120	cd08218	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	127	cd06628	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	122	cd07836	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	130	cd07863	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	167	cd06623	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	120	cd05625	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	120	cd05609	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	120	cd05615	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	123_G	cd06650	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	136	cd07841	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	122	cd05034	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	120	cd05626	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	123	cd07853	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	121	cd05598	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	134	cd06647	NULL
25865	120659787	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	171	cd06614	NULL
25865	19923468	Disease	p.Asp511Val	173910.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173910	POLYCYSTIC KIDNEY DISEASE 2	OMIM	6	cd05621	NULL
5284	150421625	Disease	p.Ala580Val	173880.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173880	IgA NEPHROPATHY, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	31377806,NP_002635
6414	148277022	Disease	p.Thr715Pro	173610.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173610	SELECTIN P POLYMORPHISM	OMIM	No Domain	N/A	NULL
6414	172046864	Disease	p.Thr715Pro	173610.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173610	SELECTIN P POLYMORPHISM	OMIM	No Domain	N/A	62530391,NP_005401|148277018,NP_001078955
6414	172046864	Disease	p.Thr715Pro	173610.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173610	SELECTIN P POLYMORPHISM	OMIM	No Domain	N/A	62530391,NP_005401|148277018,NP_001078955
6414	148277022	Disease	p.Val640Leu	173610.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173610	ATOPY, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
6414	172046864	Disease	p.Val640Leu	173610.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173610	ATOPY, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	62530391,NP_005401|148277018,NP_001078955
6414	172046864	Disease	p.Val640Leu	173610.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173610	ATOPY, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	62530391,NP_005401|148277018,NP_001078955
2815	2822110	Disease	p.Asn45Ser	173515.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173515	BERNARD-SOULIER SYNDROME, TYPE C	OMIM	31	pfam01462	4504077,NP_000165
2815	2822110	Disease	p.Asn45Ser	173515.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173515	BERNARD-SOULIER SYNDROME, TYPE C	OMIM	31	smart00013	4504077,NP_000165
2815	2822110	Disease	p.Asp21Gly	173515.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173515	BERNARD-SOULIER SYNDROME, TYPE C	OMIM	3	pfam01462	4504077,NP_000165
2815	2822110	Disease	p.Asp21Gly	173515.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173515	BERNARD-SOULIER SYNDROME, TYPE C	OMIM	3	smart00013	4504077,NP_000165
2815	2822110	Disease	p.Phe55Ser	173515.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173515	BERNARD-SOULIER SYNDROME, TYPE C	OMIM	No Domain	N/A	4504077,NP_000165
2815	2822110	Disease	p.Leu40Pro	173515.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173515	BERNARD-SOULIER SYNDROME, TYPE C	OMIM	24	pfam01462	4504077,NP_000165
2815	2822110	Disease	p.Leu40Pro	173515.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173515	BERNARD-SOULIER SYNDROME, TYPE C	OMIM	24	smart00013	4504077,NP_000165
2815	2822110	Disease	p.Cys8Arg	173515.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173515	BERNARD-SOULIER SYNDROME, TYPE C	OMIM	No Domain	N/A	4504077,NP_000165
2815	2822110	Disease	p.Leu7Pro	173515.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173515	BERNARD-SOULIER SYNDROME, TYPE C	OMIM	No Domain	N/A	4504077,NP_000165
948	115982	Disease	p.Pro90Ser	173510.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173510	PLATELET GLYCOPROTEIN IV DEFICIENCY	OMIM	108	pfam01130	188536063,NP_001120915|48375178,NP_000063|188536065,NP_001120916|48375180,NP_001001548|48375176,NP_001001547
948	115982	Disease	p.Pro90Ser	173510.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173510	PLATELET GLYCOPROTEIN IV DEFICIENCY	OMIM	108	pfam01130	188536063,NP_001120915|48375178,NP_000063|188536065,NP_001120916|48375180,NP_001001548|48375176,NP_001001547
948	115982	Disease	p.Pro90Ser	173510.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173510	PLATELET GLYCOPROTEIN IV DEFICIENCY	OMIM	108	pfam01130	188536063,NP_001120915|48375178,NP_000063|188536065,NP_001120916|48375180,NP_001001548|48375176,NP_001001547
948	115982	Disease	p.Pro90Ser	173510.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173510	PLATELET GLYCOPROTEIN IV DEFICIENCY	OMIM	108	pfam01130	188536063,NP_001120915|48375178,NP_000063|188536065,NP_001120916|48375180,NP_001001548|48375176,NP_001001547
948	115982	Disease	p.Pro90Ser	173510.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173510	PLATELET GLYCOPROTEIN IV DEFICIENCY	OMIM	108	pfam01130	188536063,NP_001120915|48375178,NP_000063|188536065,NP_001120916|48375180,NP_001001548|48375176,NP_001001547
948	115982	Disease	p.Phe253Leu	173510.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173510	PLATELET GLYCOPROTEIN IV DEFICIENCY	OMIM	469	pfam01130	188536063,NP_001120915|48375178,NP_000063|188536065,NP_001120916|48375180,NP_001001548|48375176,NP_001001547
948	115982	Disease	p.Phe253Leu	173510.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173510	PLATELET GLYCOPROTEIN IV DEFICIENCY	OMIM	469	pfam01130	188536063,NP_001120915|48375178,NP_000063|188536065,NP_001120916|48375180,NP_001001548|48375176,NP_001001547
948	115982	Disease	p.Phe253Leu	173510.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173510	PLATELET GLYCOPROTEIN IV DEFICIENCY	OMIM	469	pfam01130	188536063,NP_001120915|48375178,NP_000063|188536065,NP_001120916|48375180,NP_001001548|48375176,NP_001001547
948	115982	Disease	p.Phe253Leu	173510.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173510	PLATELET GLYCOPROTEIN IV DEFICIENCY	OMIM	469	pfam01130	188536063,NP_001120915|48375178,NP_000063|188536065,NP_001120916|48375180,NP_001001548|48375176,NP_001001547
948	115982	Disease	p.Phe253Leu	173510.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173510	PLATELET GLYCOPROTEIN IV DEFICIENCY	OMIM	469	pfam01130	188536063,NP_001120915|48375178,NP_000063|188536065,NP_001120916|48375180,NP_001001548|48375176,NP_001001547
948	115982	Disease	p.Ile413Leu	173510.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173510	PLATELET GLYCOPROTEIN IV DEFICIENCY	OMIM	750	pfam01130	188536063,NP_001120915|48375178,NP_000063|188536065,NP_001120916|48375180,NP_001001548|48375176,NP_001001547
948	115982	Disease	p.Ile413Leu	173510.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173510	PLATELET GLYCOPROTEIN IV DEFICIENCY	OMIM	750	pfam01130	188536063,NP_001120915|48375178,NP_000063|188536065,NP_001120916|48375180,NP_001001548|48375176,NP_001001547
948	115982	Disease	p.Ile413Leu	173510.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173510	PLATELET GLYCOPROTEIN IV DEFICIENCY	OMIM	750	pfam01130	188536063,NP_001120915|48375178,NP_000063|188536065,NP_001120916|48375180,NP_001001548|48375176,NP_001001547
948	115982	Disease	p.Ile413Leu	173510.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173510	PLATELET GLYCOPROTEIN IV DEFICIENCY	OMIM	750	pfam01130	188536063,NP_001120915|48375178,NP_000063|188536065,NP_001120916|48375180,NP_001001548|48375176,NP_001001547
948	115982	Disease	p.Ile413Leu	173510.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173510	PLATELET GLYCOPROTEIN IV DEFICIENCY	OMIM	750	pfam01130	188536063,NP_001120915|48375178,NP_000063|188536065,NP_001120916|48375180,NP_001001548|48375176,NP_001001547
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	122	cd05106	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	79	cd05070	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	80	cd05068	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	80	cd05034	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	79	cd05069	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	83	cd05039	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	79	cd05082	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	80	cd05073	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	79	cd05067	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	82	cd05148	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	77	cd05083	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	80	cd05072	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	88	cd05061	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	88	cd05062	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	88	cd05036	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	114	cd05056	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	81	cd05052	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	79	cd05071	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	121	cd05032	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	82	cd05089	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	97	cd05100	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	97	cd05099	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	97	cd05053	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	77	cd05042	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	246	cd00180	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	113	cd05123	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	86	cd05092	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	88	cd05048	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	87	cd05091	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	86	cd05090	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	86	cd05093	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	147	cd05046	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	87	cd05050	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	98	cd05097	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	101	cd05095	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	121	cd05051	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	98	cd05096	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	85	cd05064	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	89	cd05049	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	86	cd05094	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	5	cd08222	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	137	cd05057	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	105	cd08215	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	154	cd06606	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	82	cd05045	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	84	cd06627	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	130	pfam07714	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	135	pfam00069	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	243	smart00219	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	78	cd05059	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	80_G	cd05035	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	73	cd05075	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	73_G	cd05074	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	371	smart00221	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	91	cd05102	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	91	cd05054	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	91	cd05103	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	103	cd05098	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	118	cd06608	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	78	cd05113	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	78	cd05114	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	84	cd05065	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	84	cd05066	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	97	cd05038	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	108	cd05033	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	87	cd05088	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	100	cd05101	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	74	cd05086	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	73	cd05041	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	78	cd05044	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	74	cd05087	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	141	cd00192	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	72	cd05085	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	75	cd05047	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	79	cd05060	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	120	cd05105	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	118	cd05104	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	120	cd05055	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	120	cd05107	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	131	cd05581	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	329	COG0515	5453870,NP_006197
5156	129892	Disease	p.Thr674Ile	173490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173490	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB	OMIM	302	smart00220	5453870,NP_006197
3690	125987835	Disease	p.Arg214Gln	173470.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	GLANZMANN THROMBASTHENIA	OMIM	193	smart00327	47078292,NP_000203
3690	125987835	Disease	p.Arg214Gln	173470.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	GLANZMANN THROMBASTHENIA	OMIM	314	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Arg214Gln	173470.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	GLANZMANN THROMBASTHENIA	OMIM	256	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Asp119Tyr	173470.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	GLANZMANN THROMBASTHENIA	OMIM	180	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Asp119Tyr	173470.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	GLANZMANN THROMBASTHENIA	OMIM	159	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Arg214Trp	173470.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	GLANZMANN THROMBASTHENIA	OMIM	193	smart00327	47078292,NP_000203
3690	125987835	Disease	p.Arg214Trp	173470.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	GLANZMANN THROMBASTHENIA	OMIM	314	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Arg214Trp	173470.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	GLANZMANN THROMBASTHENIA	OMIM	256	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Ser752Pro	173470.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	GLANZMANN THROMBASTHENIA	OMIM	11	pfam08725	47078292,NP_000203
3690	125987835	Disease	p.Arg143Gln	173470.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM||THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE||POSTTRANSFUSION PURPURA	OMIM	8	smart00327	47078292,NP_000203
3690	125987835	Disease	p.Arg143Gln	173470.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM||THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE||POSTTRANSFUSION PURPURA	OMIM	239	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Arg143Gln	173470.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM||THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE||POSTTRANSFUSION PURPURA	OMIM	183	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Leu33Pro	173470.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM||THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE||POSTTRANSFUSION PURPURA||MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO||AUTISM, ASSOCIATION WITH, 7||FRACTURE, HIP, SUSCEPTIBILITY TO	OMIM	3	smart00423	47078292,NP_000203
3690	125987835	Disease	p.Pro407Ala	173470.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	Mo ALLOANTIGEN POLYMORPHISM||THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE	OMIM	624	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Pro407Ala	173470.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	Mo ALLOANTIGEN POLYMORPHISM||THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE	OMIM	466	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Arg489Gln	173470.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	Ca/Tu ALLOANTIGEN POLYMORPHISM||THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE	OMIM	No Domain	N/A	47078292,NP_000203
3690	125987835	Disease	p.Cys374Tyr	173470.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	GLANZMANN THROMBASTHENIA	OMIM	632	smart00327	47078292,NP_000203
3690	125987835	Disease	p.Cys374Tyr	173470.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	GLANZMANN THROMBASTHENIA	OMIM	589	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Cys374Tyr	173470.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	GLANZMANN THROMBASTHENIA	OMIM	431	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Leu117Trp	173470.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	GLANZMANN THROMBASTHENIA	OMIM	178	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Leu117Trp	173470.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	GLANZMANN THROMBASTHENIA	OMIM	157	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Lys253Met	173470.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	GLANZMANN THROMBASTHENIA	OMIM	293	smart00327	47078292,NP_000203
3690	125987835	Disease	p.Lys253Met	173470.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	GLANZMANN THROMBASTHENIA	OMIM	353	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Lys253Met	173470.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	GLANZMANN THROMBASTHENIA	OMIM	295	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Gly221Asp	173470.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	GLANZMANN THROMBASTHENIA	OMIM	200	smart00327	47078292,NP_000203
3690	125987835	Disease	p.Gly221Asp	173470.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	GLANZMANN THROMBASTHENIA	OMIM	321	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Gly221Asp	173470.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173470	GLANZMANN THROMBASTHENIA	OMIM	263	smart00187	47078292,NP_000203
5054	259155306	Disease	p.Ala15Thr	173360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173360	PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY	OMIM	12	COG4826	NULL
5054	259155306	Disease	p.Ala15Thr	173360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173360	PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY	OMIM	4	cd02057	NULL
5054	259155306	Disease	p.Ala15Thr	173360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173360	PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY	OMIM	22	cd02047	NULL
5054	259155306	Disease	p.Ala15Thr	173360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173360	PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY	OMIM	6	cd02045	NULL
5054	129576	Disease	p.Ala15Thr	173360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173360	PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY	OMIM	12	COG4826	10835159,NP_000593
5054	129576	Disease	p.Ala15Thr	173360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173360	PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY	OMIM	22	cd02047	10835159,NP_000593
5340	270132876	Disease	p.Ala601Thr	173350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350	DYSPLASMINOGENEMIA	OMIM	No Domain	N/A	NULL
5340	130316	Disease	p.Ala601Thr	173350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350	DYSPLASMINOGENEMIA	OMIM	31	smart00020	4505881,NP_000292
5340	130316	Disease	p.Ala601Thr	173350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350	DYSPLASMINOGENEMIA	OMIM	25	cd00190	4505881,NP_000292
5340	130316	Disease	p.Ala601Thr	173350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350	DYSPLASMINOGENEMIA	OMIM	25	pfam00089	4505881,NP_000292
5340	270132876	Disease	p.Val355Phe	173350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350	DYSPLASMINOGENEMIA	OMIM	No Domain	N/A	NULL
5340	130316	Disease	p.Val355Phe	173350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350	DYSPLASMINOGENEMIA	OMIM	No Domain	N/A	4505881,NP_000292
5340	270132876	Disease	p.Ser572Pro	173350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350	DYSPLASMINOGENEMIA	OMIM	No Domain	N/A	NULL
5340	130316	Disease	p.Ser572Pro	173350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350	DYSPLASMINOGENEMIA	OMIM	No Domain	N/A	4505881,NP_000292
5340	270132876	Disease	p.Arg216His	173350.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350	PLASMINOGEN DEFICIENCY, TYPE I	OMIM	No Domain	N/A	NULL
5340	130316	Disease	p.Arg216His	173350.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350	PLASMINOGEN DEFICIENCY, TYPE I	OMIM	32	pfam00051	4505881,NP_000292
5340	130316	Disease	p.Arg216His	173350.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350	PLASMINOGEN DEFICIENCY, TYPE I	OMIM	42	cd00108	4505881,NP_000292
5340	130316	Disease	p.Arg216His	173350.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350	PLASMINOGEN DEFICIENCY, TYPE I	OMIM	36	smart00130	4505881,NP_000292
5340	270132876	Disease	p.Gly732Arg	173350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350	DYSPLASMINOGENEMIA	OMIM	No Domain	N/A	NULL
5340	130316	Disease	p.Gly732Arg	173350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350	DYSPLASMINOGENEMIA	OMIM	420	smart00020	4505881,NP_000292
5340	130316	Disease	p.Gly732Arg	173350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350	DYSPLASMINOGENEMIA	OMIM	276	cd00190	4505881,NP_000292
5340	130316	Disease	p.Gly732Arg	173350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350	DYSPLASMINOGENEMIA	OMIM	234	pfam00089	4505881,NP_000292
5340	270132876	Disease	p.Lys19Glu	173350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350	PLASMINOGEN DEFICIENCY, TYPE I	OMIM	3	pfam00024	NULL
5340	130316	Disease	p.Lys19Glu	173350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173350	PLASMINOGEN DEFICIENCY, TYPE I	OMIM	3	pfam00024	4505881,NP_000292
5167	23503088	Disease	p.Arg774Cys	173335.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173335	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	157	smart00477	170650661,NP_006199
5167	23503088	Disease	p.Arg774Cys	173335.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173335	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	140	cd00091	170650661,NP_006199
5167	23503088	Disease	p.Arg774Cys	173335.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173335	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	204	COG1864	170650661,NP_006199
5167	23503088	Disease	p.Leu579Phe	173335.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173335	ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY	OMIM	659	COG1524	170650661,NP_006199
5167	23503088	Disease	p.Lys121Gln	173335.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173335	INSULIN RESISTANCE, SUSCEPTIBILITY TO||DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO||OBESITY, SUSCEPTIBILITY TO	OMIM	32	smart00201	170650661,NP_006199
5167	23503088	Disease	p.Lys121Gln	173335.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173335	INSULIN RESISTANCE, SUSCEPTIBILITY TO||DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO||OBESITY, SUSCEPTIBILITY TO	OMIM	35	pfam01033	170650661,NP_006199
5167	23503088	Disease	p.Gly342Val	173335.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173335	ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY	OMIM	246	COG1524	170650661,NP_006199
5167	23503088	Disease	p.Gly342Val	173335.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173335	ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY	OMIM	235	pfam01663	170650661,NP_006199
5167	23503088	Disease	p.Tyr371Phe	173335.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173335	ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY	OMIM	357	COG1524	170650661,NP_006199
5167	23503088	Disease	p.Tyr371Phe	173335.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173335	ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY	OMIM	331	pfam01663	170650661,NP_006199
5167	23503088	Disease	p.Gly266Val	173335.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173335	HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2||ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY	OMIM	114	COG1524	170650661,NP_006199
5167	23503088	Disease	p.Gly266Val	173335.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173335	HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2||ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY	OMIM	72	pfam01663	170650661,NP_006199
5167	23503088	Disease	p.Tyr901Ser	173335.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173335	HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2	OMIM	335	smart00477	170650661,NP_006199
5167	23503088	Disease	p.Tyr901Ser	173335.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173335	HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2	OMIM	285	cd00091	170650661,NP_006199
5167	23503088	Disease	p.Tyr901Ser	173335.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173335	HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2	OMIM	333	COG1864	170650661,NP_006199
5449	170650730	Disease	p.Arg271Trp	173110.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	50	smart00389	NULL
5449	170650730	Disease	p.Arg271Trp	173110.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	42	cd00086	NULL
5449	170650730	Disease	p.Arg271Trp	173110.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	36	pfam00046	NULL
5449	123408	Disease	p.Arg271Trp	173110.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	89	cd00086	4505955,NP_000297
5449	170650730	Disease	p.Ala158Pro	173110.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	9	pfam00157	NULL
5449	170650730	Disease	p.Ala158Pro	173110.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	9	smart00352	NULL
5449	123408	Disease	p.Ala158Pro	173110.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	38	pfam00157	4505955,NP_000297
5449	123408	Disease	p.Ala158Pro	173110.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	35	smart00352	4505955,NP_000297
5449	170650730	Disease	p.Pro24Leu	173110.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	No Domain	N/A	NULL
5449	123408	Disease	p.Pro24Leu	173110.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	No Domain	N/A	4505955,NP_000297
5449	170650730	Disease	p.Arg143Gln	173110.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	No Domain	N/A	NULL
5449	123408	Disease	p.Arg143Gln	173110.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	23	pfam00157	4505955,NP_000297
5449	123408	Disease	p.Arg143Gln	173110.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	20	smart00352	4505955,NP_000297
5449	170650730	Disease	p.Phe135Cys	173110.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	No Domain	N/A	NULL
5449	123408	Disease	p.Phe135Cys	173110.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	12	pfam00157	4505955,NP_000297
5449	123408	Disease	p.Phe135Cys	173110.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	12	smart00352	4505955,NP_000297
5449	170650730	Disease	p.Pro239Ser	173110.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	No Domain	N/A	NULL
5449	123408	Disease	p.Pro239Ser	173110.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	30	pfam00046	4505955,NP_000297
5449	123408	Disease	p.Pro239Ser	173110.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	36	cd00086	4505955,NP_000297
5449	123408	Disease	p.Pro239Ser	173110.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	44	smart00389	4505955,NP_000297
5449	170650730	Disease	p.Trp193Arg	173110.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	50	pfam00157	NULL
5449	170650730	Disease	p.Trp193Arg	173110.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	47	smart00352	NULL
5449	123408	Disease	p.Trp193Arg	173110.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	76	pfam00157	4505955,NP_000297
5449	123408	Disease	p.Trp193Arg	173110.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	73	smart00352	4505955,NP_000297
5449	170650730	Disease	p.Glu230Lys	173110.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	No Domain	N/A	NULL
5449	123408	Disease	p.Glu230Lys	173110.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	16	pfam00046	4505955,NP_000297
5449	123408	Disease	p.Glu230Lys	173110.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	16	cd00086	4505955,NP_000297
5449	123408	Disease	p.Glu230Lys	173110.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	21	smart00389	4505955,NP_000297
5449	170650730	Disease	p.Arg172Gln	173110.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	26	pfam00157	NULL
5449	170650730	Disease	p.Arg172Gln	173110.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	23	smart00352	NULL
5449	123408	Disease	p.Arg172Gln	173110.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	55	pfam00157	4505955,NP_000297
5449	123408	Disease	p.Arg172Gln	173110.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	52	smart00352	4505955,NP_000297
5449	170650730	Disease	p.Ser179Arg	173110.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	33	pfam00157	NULL
5449	170650730	Disease	p.Ser179Arg	173110.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	30	smart00352	NULL
5449	123408	Disease	p.Ser179Arg	173110.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	62	pfam00157	4505955,NP_000297
5449	123408	Disease	p.Ser179Arg	173110.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173110	PITUITARY HORMONE DEFICIENCY, COMBINED, 1	OMIM	59	smart00352	4505955,NP_000297
5257	73611906	Disease	p.Tyr974His	172490.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172490	GLYCOGEN STORAGE DISEASE IXb	OMIM	No Domain	N/A	NULL
5257	2499582	Disease	p.Tyr974His	172490.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172490	GLYCOGEN STORAGE DISEASE IXb	OMIM	No Domain	N/A	4505783,NP_000284
5257	73611906	Disease	p.Ala117Pro	172490.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172490	GLYCOGEN STORAGE DISEASE IXb	OMIM	95	pfam00723	NULL
5257	2499582	Disease	p.Ala117Pro	172490.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172490	GLYCOGEN STORAGE DISEASE IXb	OMIM	88	pfam00723	4505783,NP_000284
5723	62906870	Disease	p.Asp32Asn	172480.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172480	PHOSPHOSERINE PHOSPHATASE DEFICIENCY	OMIM	21	COG4359	46249388,NP_004568
5723	62906870	Disease	p.Asp32Asn	172480.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172480	PHOSPHOSERINE PHOSPHATASE DEFICIENCY	OMIM	17	cd01427	46249388,NP_004568
5723	62906870	Disease	p.Asp32Asn	172480.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172480	PHOSPHOSERINE PHOSPHATASE DEFICIENCY	OMIM	31	COG0560	46249388,NP_004568
5723	62906870	Disease	p.Asp32Asn	172480.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172480	PHOSPHOSERINE PHOSPHATASE DEFICIENCY	OMIM	59	pfam00702	46249388,NP_004568
5723	62906870	Disease	p.Met52Thr	172480.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172480	PHOSPHOSERINE PHOSPHATASE DEFICIENCY	OMIM	42	COG4359	46249388,NP_004568
5723	62906870	Disease	p.Met52Thr	172480.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172480	PHOSPHOSERINE PHOSPHATASE DEFICIENCY	OMIM	37	cd01427	46249388,NP_004568
5723	62906870	Disease	p.Met52Thr	172480.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172480	PHOSPHOSERINE PHOSPHATASE DEFICIENCY	OMIM	51	COG0560	46249388,NP_004568
5723	62906870	Disease	p.Met52Thr	172480.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172480	PHOSPHOSERINE PHOSPHATASE DEFICIENCY	OMIM	114	pfam00702	46249388,NP_004568
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	183	cd07843	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd07866	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05048	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	186	cd06638	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	192	cd07854	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	185	cd05088	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd08228	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	177	cd06616	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	174	cd05118	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	177	cd07868	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	177	cd07867	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd08229	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	180	cd05089	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd05038	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	169	cd08224	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	183	cd07850	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	167	cd05034	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	171	cd06625	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	172	cd06644	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	179	cd07864	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	173	cd06637	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	205	cd06608	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	173	cd05111	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	167	cd05065	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	205	cd05622	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	799	COG0515	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd05624	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	332	cd05599	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	223	cd05580	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	161	cd06617	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	166	cd05601	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd05597	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	160	cd05612	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	300	cd05573	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	176	cd06619	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	210	cd05626	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	195	cd06652	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	181	cd07837	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd05623	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	224	cd05629	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd07869	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	164	cd06649	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	223	cd05598	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	184	cd05574	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	162	cd06615	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	169	cd07847	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	200	cd07833	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	399	cd05581	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	192	cd07848	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	172	cd07862	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	164	cd07846	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	171	cd06653	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	178	cd06612	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	184	cd06610	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	200	cd05056	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	179	cd05609	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	181	cd06605	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	176	cd06622	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd05627	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd05628	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	205	cd05596	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	205	cd05621	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	187	cd07875	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	180	cd07874	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd05081	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	180	cd06618	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	190	cd07852	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05586	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	233	cd05572	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	731	cd05123	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	159	cd05115	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	622	cd00180	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	156	cd05607	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	162	cd05577	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	705	cd05579	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	159	cd05608	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	170	cd05068	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	353	cd05611	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd05073	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd05072	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	155	cd05585	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd05631	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd05630	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd05632	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	179	cd07857	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	181	cd05613	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	169	cd05583	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	178	cd06628	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd08218	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	161	cd07839	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd08529	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	233	cd08217	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	278	cd06606	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	164	cd08223	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	162	cd08219	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	230	cd08215	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	274	cd07842	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd07836	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	170	cd08530	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	166	cd08221	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	205	cd06627	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	172	cd07863	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	172	cd08220	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	162	cd07860	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd08222	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	164	cd08225	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	172	cd06631	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd05578	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	164	cd07861	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	249	cd07834	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	199	cd07841	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	185	cd08528	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd05050	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	167_G	cd07853	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd05615	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd05587	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd05616	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd05614	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	184	cd07832	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	173	cd07859	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	171	cd06651	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd05122	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	166	cd07873	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd06642	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd06640	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	167	cd07856	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	166	cd07844	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd06641	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	180_G	cd07845	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	166	cd07872	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd06645	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	173	cd06634	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	230	cd05600	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05606	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	184	cd05035	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	184	cd06632	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	157	cd05633	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	210	cd05625	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	216	cd06623	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	160	cd05582	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	197	cd06626	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	166	cd05584	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	166	cd08216	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd08226	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	166	cd06620	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd08227	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05602	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	160	cd05042	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	159	cd05041	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	157	cd05084	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	157	cd05595	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05571	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05594	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05618	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05604	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05588	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	173	cd05620	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05617	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	171	cd06630	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	173	cd05047	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	169	cd05040	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	156	cd05085	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	174	cd05592	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05619	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	392	cd00192	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	166	cd05058	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05575	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	175	cd06629	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	156	cd05116	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	160	cd05570	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	161	cd05060	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	157	cd05593	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	171	cd06621	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05591	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05590	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05603	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	184	cd05049	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	224	cd05057	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	183	cd06636	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd05605	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	171	cd05080	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd06613	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	170	cd05109	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd07870	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	170	cd05108	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd05082	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	178	cd05062	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	223	cd05032	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	156_G	cd05070	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	179	cd05061	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	156_G	cd05069	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	164	cd05052	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	179	cd06659	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	178	cd06648	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	180	cd06658	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	178	cd06657	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd07871	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	176	cd06624	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	173	cd06607	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd07851	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	184	cd07876	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd06646	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	179	cd06633	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	177	cd07880	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	187	cd07879	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	177	cd07878	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	197	cd06639	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	216	cd06614	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	183	cd06635	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	178	cd06654	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	177	cd06656	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	177	cd06655	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	177	cd06647	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	179	cd07877	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	661	smart00220	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd06643	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	159	cd05059	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	200	cd05033	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	223	cd07840	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd07831	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	216	cd07829	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	339	pfam07714	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	189	cd07835	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	535	smart00219	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	291	pfam00069	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	211	cd07838	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	724	smart00221	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	237	cd07830	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	167	cd06611	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	174	cd05074	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd05589	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	162	cd05113	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	160	cd05112	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	161	cd05114	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	192	cd07865	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	199	cd07855	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	186	cd07849	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	175	cd06917	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	167	cd05063	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	174	cd07858	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	191	cd06609	NULL
5261	289063422	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	107	smart00750	NULL
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	183	cd07843	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd07866	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05048	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	186	cd06638	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	192	cd07854	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	185	cd05088	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd08228	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	177	cd06616	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	174	cd05118	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	177	cd07868	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	177	cd07867	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd08229	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	180	cd05089	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd05038	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	169	cd08224	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	183	cd07850	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	167	cd05034	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	171	cd06625	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	172	cd06644	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	179	cd07864	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	173	cd06637	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	205	cd06608	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	173	cd05111	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	167	cd05065	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	205	cd05622	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd05624	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	332	cd05599	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	223	cd05580	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	161	cd06617	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	166	cd05601	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd05597	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	160	cd05612	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	300	cd05573	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	176	cd06619	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd05628	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	224	cd05629	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	195	cd06652	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	181	cd07837	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd05627	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd05623	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd07869	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	164	cd06649	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	223	cd05598	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	210	cd05626	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	184	cd05574	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	162	cd06615	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	169	cd07847	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	200	cd07833	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	399	cd05581	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	192	cd07848	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	172	cd07862	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	164	cd07846	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	171	cd06653	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	178	cd06612	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	184	cd06610	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	200	cd05056	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	179	cd05609	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	799	COG0515	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	181	cd06605	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	176	cd06622	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	205	cd05596	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	205	cd05621	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	187	cd07875	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	180	cd07874	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd05081	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	180	cd06618	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	190	cd07852	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	233	cd05572	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	731	cd05123	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	159	cd05115	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	622	cd00180	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	156	cd05607	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	162	cd05577	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	705	cd05579	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05586	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	159	cd05608	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	170	cd05068	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	353	cd05611	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd05073	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd05072	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	155	cd05585	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd05631	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd05630	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd05632	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	179	cd07857	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	181	cd05613	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	169	cd05583	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	178	cd06628	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd08218	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	161	cd07839	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd08529	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	233	cd08217	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	278	cd06606	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	164	cd08223	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	162	cd08219	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	230	cd08215	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	274	cd07842	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd07836	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	170	cd08530	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	166	cd08221	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	205	cd06627	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	172	cd07863	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	172	cd08220	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	162	cd07860	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd08222	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	164	cd08225	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	172	cd06631	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd05578	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	164	cd07861	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	249	cd07834	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	199	cd07841	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	185	cd08528	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd05050	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	167_G	cd07853	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd05616	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd05587	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd05615	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd05614	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	184	cd07832	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	173	cd07859	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	171	cd06651	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd05122	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	166	cd07873	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd06642	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd06640	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	167	cd07856	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	166	cd07844	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd06641	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	180_G	cd07845	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	166	cd07872	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd06645	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	173	cd06634	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	230	cd05600	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05606	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	184	cd05035	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	184	cd06632	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	157	cd05633	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	216	cd06623	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	160	cd05582	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	197	cd06626	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	210	cd05625	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	166	cd05584	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	166	cd08216	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd08226	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	166	cd06620	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05602	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	160	cd05042	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	159	cd05041	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	157	cd05084	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	157	cd05595	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05571	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05594	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	173	cd05620	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05604	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	174	cd05592	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05619	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	171	cd06630	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	173	cd05047	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	169	cd05040	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	156	cd05085	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	392	cd00192	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	166	cd05058	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05575	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	175	cd06629	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	156	cd05116	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	160	cd05570	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	161	cd05060	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	157	cd05593	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	171	cd06621	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05590	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05588	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05618	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05591	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05617	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05603	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	184	cd05049	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	224	cd05057	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	183	cd06636	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd05605	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	171	cd05080	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd06613	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	170	cd05109	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd07870	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	170	cd05108	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd05082	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	178	cd05062	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	223	cd05032	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	156_G	cd05070	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	179	cd05061	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	156_G	cd05069	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	164	cd05052	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	179	cd06659	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	178	cd06648	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	180	cd06658	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	178	cd06657	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd07871	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	176	cd06624	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	173	cd06607	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd07851	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	184	cd07876	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd06646	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	179	cd06633	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	177	cd07880	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	187	cd07879	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	177	cd07878	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	197	cd06639	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	216	cd06614	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	183	cd06635	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	178	cd06654	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	177	cd06656	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	177	cd06655	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	177	cd06647	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	179	cd07877	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	661	smart00220	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd06643	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	159	cd05059	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	200	cd05033	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	223	cd07840	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd07831	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	216	cd07829	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	339	pfam07714	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	189	cd07835	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	535	smart00219	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	291	pfam00069	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	211	cd07838	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	724	smart00221	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	237	cd07830	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	167	cd06611	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	174	cd05074	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	163	cd05589	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	162	cd05113	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	160	cd05112	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	161	cd05114	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	192	cd07865	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	199	cd07855	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	186	cd07849	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	175	cd06917	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	167	cd05063	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	174	cd07858	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	191	cd06609	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	172471.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	107	smart00750	4505785,NP_000285
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	92	cd07843	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	97	cd07866	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	87	cd05048	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	98	cd06638	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	106	cd07854	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd05088	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd08228	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	95	cd06616	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd05118	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd07868	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd07867	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd08229	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	81	cd05089	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	96	cd05038	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	81	cd08224	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	100	cd07850	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05034	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	84	cd06625	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	87	cd06644	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	95	cd07864	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	87	cd06637	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd06608	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd05111	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	83	cd05065	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd05622	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	426	COG0515	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05624	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	84	cd05599	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	127	cd05580	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	85	cd06617	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05601	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05597	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05612	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	133	cd05573	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	98	cd06619	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05626	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd06652	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	91	cd07837	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05623	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05629	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	81	cd07869	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	81	cd06649	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd05598	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	99	cd05574	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd06615	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd07847	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	100	cd07833	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	130	cd05581	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	107	cd07848	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	87	cd07862	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd07846	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd06653	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	89	cd06612	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd06610	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	113	cd05056	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05609	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	82	cd06605	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd06622	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05627	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05628	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd05596	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd05621	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	101	cd07875	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	100	cd07874	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	85	cd05081	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	92	cd06618	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	88	cd07852	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05586	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd05572	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05123	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	72	cd05115	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	245	cd00180	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	71	cd05607	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05577	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	73	cd05579	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	71	cd05608	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05068	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	75	cd05611	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05073	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05072	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	71	cd05585	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd05631	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd05630	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd05632	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	88	cd07857	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	83	cd05613	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	83	cd05583	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd06628	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd08218	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd07839	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	82	cd08529	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd08217	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	153	cd06606	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd08223	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	76	cd08219	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	104	cd08215	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	174	cd07842	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	76	cd07836	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd08530	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd08221	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	83	cd06627	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	88	cd07863	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd08220	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd07860	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	82	cd08222	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd08225	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	82	cd06631	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd05578	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd07861	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd07834	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	93	cd07841	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	96	cd08528	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd05050	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	83	cd07853	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05615	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	84	cd05587	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05616	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	83	cd05614	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	90	cd07832	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	82	cd07859	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd06651	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	102	cd05122	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	82	cd07873	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd06642	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd06640	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	88	cd07856	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	81	cd07844	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd06641	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd07845	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	82	cd07872	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	84	cd06645	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	93	cd06634	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd05600	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	76	cd05606	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	95	cd05035	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	97	cd06632	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	75	cd05633	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05625	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	102	cd06623	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	76	cd05582	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	81_G	cd06626	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	82	cd05584	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd08216	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd08226	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	83	cd06620	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd08227	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05602	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	76	cd05042	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	72	cd05041	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	71	cd05084	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	73	cd05595	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	73	cd05571	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	73	cd05594	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05618	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05604	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05588	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05620	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05617	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	81	cd06630	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05047	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd05040	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	71	cd05085	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05592	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05619	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	140	cd00192	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	82	cd05058	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05575	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	85	cd06629	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	73	cd05116	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	76	cd05570	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd05060	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	73	cd05593	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	82	cd06621	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05591	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05590	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05603	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	88	cd05049	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	136	cd05057	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	97	cd06636	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd05605	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd05080	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd06613	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd05109	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	81	cd07870	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd05108	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd05082	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	87	cd05062	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd05032	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd05070	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	87	cd05061	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd05069	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd05052	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	96	cd06659	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	94	cd06648	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	97	cd06658	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	95	cd06657	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	81	cd07871	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	88	cd06624	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	95	cd06607	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	108	cd07851	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	104	cd07876	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	84	cd06646	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	99	cd06633	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	98	cd07880	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	105	cd07879	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	98	cd07878	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	109	cd06639	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	108	cd06614	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	103	cd06635	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	95	cd06654	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	94	cd06656	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	94	cd06655	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	94	cd06647	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	100	cd07877	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	301	smart00220	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd06643	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd05059	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	107	cd05033	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd07840	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd07831	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	105	cd07829	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	129	pfam07714	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	84	cd07835	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	242	smart00219	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	134	pfam00069	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	102	cd07838	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	370	smart00221	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd07830	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	84	cd06611	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	85	cd05074	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd05589	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd05113	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd05112	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd05114	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	102	cd07865	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	106	cd07855	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	90	cd07849	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd06917	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	85	cd05063	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	88	cd07858	NULL
5261	289063422	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	93	cd06609	NULL
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	92	cd07843	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	97	cd07866	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	87	cd05048	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	98	cd06638	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	106	cd07854	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd05088	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd08228	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	95	cd06616	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd05118	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd07868	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd07867	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd08229	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	81	cd05089	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	96	cd05038	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	81	cd08224	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	100	cd07850	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05034	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	84	cd06625	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	87	cd06644	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	95	cd07864	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	87	cd06637	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd06608	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd05111	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	83	cd05065	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd05622	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05624	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	84	cd05599	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	127	cd05580	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	85	cd06617	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05601	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05597	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05612	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	133	cd05573	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	98	cd06619	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05628	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05629	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd06652	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	91	cd07837	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05627	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05623	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	81	cd07869	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	81	cd06649	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd05598	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05626	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	99	cd05574	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd06615	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd07847	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	100	cd07833	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	130	cd05581	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	107	cd07848	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	87	cd07862	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd07846	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd06653	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	89	cd06612	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd06610	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	113	cd05056	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05609	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	426	COG0515	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	82	cd06605	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd06622	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd05596	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd05621	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	101	cd07875	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	100	cd07874	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	85	cd05081	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	92	cd06618	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	88	cd07852	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd05572	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05123	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	72	cd05115	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	245	cd00180	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	71	cd05607	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05577	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	73	cd05579	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05586	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	71	cd05608	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05068	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	75	cd05611	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05073	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05072	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	71	cd05585	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd05631	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd05630	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd05632	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	88	cd07857	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	83	cd05613	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	83	cd05583	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd06628	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd08218	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd07839	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	82	cd08529	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd08217	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	153	cd06606	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd08223	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	76	cd08219	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	104	cd08215	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	174	cd07842	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	76	cd07836	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd08530	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd08221	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	83	cd06627	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	88	cd07863	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd08220	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd07860	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	82	cd08222	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd08225	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	82	cd06631	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd05578	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd07861	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd07834	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	93	cd07841	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	96	cd08528	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd05050	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	83	cd07853	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05616	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	84	cd05587	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05615	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	83	cd05614	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	90	cd07832	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	82	cd07859	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd06651	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	102	cd05122	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	82	cd07873	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd06642	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd06640	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	88	cd07856	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	81	cd07844	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd06641	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd07845	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	82	cd07872	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	84	cd06645	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	93	cd06634	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd05600	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	76	cd05606	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	95	cd05035	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	97	cd06632	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	75	cd05633	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	102	cd06623	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	76	cd05582	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	81_G	cd06626	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd05625	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	82	cd05584	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	79	cd08216	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd08226	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	83	cd06620	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05602	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	76	cd05042	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	72	cd05041	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	71	cd05084	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	73	cd05595	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	73	cd05571	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	73	cd05594	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05620	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05604	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05592	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05619	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	81	cd06630	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05047	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd05040	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	71	cd05085	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	140	cd00192	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	82	cd05058	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05575	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	85	cd06629	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	73	cd05116	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	76	cd05570	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd05060	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	73	cd05593	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	82	cd06621	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05590	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05588	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05618	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05591	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05617	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	74	cd05603	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	88	cd05049	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	136	cd05057	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	97	cd06636	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd05605	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd05080	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd06613	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd05109	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	81	cd07870	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd05108	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd05082	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	87	cd05062	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd05032	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd05070	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	87	cd05061	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd05069	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd05052	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	96	cd06659	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	94	cd06648	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	97	cd06658	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	95	cd06657	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	81	cd07871	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	88	cd06624	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	95	cd06607	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	108	cd07851	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	104	cd07876	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	84	cd06646	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	99	cd06633	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	98	cd07880	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	105	cd07879	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	98	cd07878	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	109	cd06639	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	108	cd06614	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	103	cd06635	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	95	cd06654	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	94	cd06656	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	94	cd06655	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	94	cd06647	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	100	cd07877	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	301	smart00220	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd06643	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd05059	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	107	cd05033	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd07840	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	78	cd07831	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	105	cd07829	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	129	pfam07714	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	84	cd07835	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	242	smart00219	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	134	pfam00069	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	102	cd07838	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	370	smart00221	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd07830	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	84	cd06611	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	85	cd05074	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	80	cd05589	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd05113	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd05112	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	77	cd05114	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	102	cd07865	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	106	cd07855	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	90	cd07849	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	86	cd06917	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	85	cd05063	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	88	cd07858	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	172471.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	93	cd06609	4505785,NP_000285
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	134	cd07843	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	147	cd07866	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	130	cd05048	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	140	cd06638	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	142	cd07854	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	140	cd05088	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd08228	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	130	cd06616	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	125	cd05118	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	124	cd07868	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	124	cd07867	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd08229	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	135	cd05089	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	144	cd05038	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	123	cd08224	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	136	cd07850	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd05034	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd06625	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	126	cd06644	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	134	cd07864	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	127	cd06637	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	159	cd06608	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	125	cd05111	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd05065	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05622	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	516	COG0515	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05624	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd05599	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	169	cd05580	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd06617	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05601	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05597	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05612	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	172	cd05573	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	132	cd06619	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05626	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	146	cd06652	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	134	cd07837	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05623	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05629	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd07869	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd06649	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05598	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	139	cd05574	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd06615	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	116	cd07847	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	138	cd07833	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	232	cd05581	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	145	cd07848	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	126	cd07862	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd07846	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd06653	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	131	cd06612	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	128	cd06610	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	152	cd05056	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05609	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	133	cd06605	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	130	cd06622	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05627	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05628	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05596	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05621	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	142	cd07875	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	135	cd07874	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	124	cd05081	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	134	cd06618	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	125	cd07852	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05586	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	183	cd05572	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	631	cd05123	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	111	cd05115	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	346	cd00180	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	111	cd05607	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	116	cd05577	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05579	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	113	cd05608	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd05068	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	113	cd05611	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd05073	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd05072	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	109	cd05585	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05631	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05630	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05632	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	125	cd07857	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd05613	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd05583	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	124	cd06628	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd08218	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	115	cd07839	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd08529	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd08217	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd06606	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd08223	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	116	cd08219	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	154	cd08215	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	220	cd07842	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd07836	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd08530	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd08221	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	123	cd06627	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	127	cd07863	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	126	cd08220	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	116	cd07860	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	123	cd08222	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd08225	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd06631	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05578	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd07861	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	159	cd07834	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	133	cd07841	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	138	cd08528	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	149	cd05050	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd07853	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05615	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd05587	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05616	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd05614	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	131	cd07832	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd07859	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd06651	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	149	cd05122	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd07873	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd06642	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd06640	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	124	cd07856	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd07844	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd06641	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	137	cd07845	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd07872	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd06645	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	131	cd06634	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05600	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	114	cd05606	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	139	cd05035	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	135	cd06632	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	113	cd05633	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05625	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	151	cd06623	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	114	cd05582	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd06626	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd05584	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd08216	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd08226	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd06620	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd08227	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05602	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd05042	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05041	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	110	cd05084	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	111	cd05595	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	111	cd05571	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	111	cd05594	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05618	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05604	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05588	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05620	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05617	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd06630	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	128	cd05047	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd05040	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	110	cd05085	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05592	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05619	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	323	cd00192	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd05058	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05575	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	126	cd06629	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	111	cd05116	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	114	cd05570	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05060	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	111	cd05593	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	126	cd06621	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05591	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05590	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05603	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	143	cd05049	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	177	cd05057	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	137	cd06636	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05605	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	123	cd05080	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd06613	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	125	cd05109	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd07870	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	125	cd05108	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05082	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	135	cd05062	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	180	cd05032	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05070	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	136	cd05061	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05069	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd05052	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	133	cd06659	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	132	cd06648	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	134	cd06658	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	132	cd06657	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd07871	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	129	cd06624	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	131	cd06607	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	150	cd07851	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	139	cd07876	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd06646	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	137	cd06633	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	134	cd07880	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	144	cd07879	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	134	cd07878	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	151	cd06639	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	166	cd06614	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	141	cd06635	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	132	cd06654	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	131	cd06656	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	131	cd06655	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	131	cd06647	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	136	cd07877	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	384	smart00220	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd06643	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05059	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	149	cd05033	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd07840	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd07831	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	156	cd07829	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	270	pfam07714	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	142	cd07835	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	400	smart00219	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	pfam00069	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	142	cd07838	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	477	smart00221	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd07830	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd06611	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	129	cd05074	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05589	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05113	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	116	cd05112	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	116	cd05114	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	140	cd07865	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	144	cd07855	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	126	cd07849	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	126	cd06917	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	124	cd05063	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	125	cd07858	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	139	cd06609	NULL
5261	289063422	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	33	smart00750	NULL
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	134	cd07843	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	147	cd07866	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	130	cd05048	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	140	cd06638	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	142	cd07854	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	140	cd05088	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd08228	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	130	cd06616	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	125	cd05118	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	124	cd07868	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	124	cd07867	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd08229	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	135	cd05089	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	144	cd05038	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	123	cd08224	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	136	cd07850	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd05034	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd06625	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	126	cd06644	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	134	cd07864	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	127	cd06637	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	159	cd06608	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	125	cd05111	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd05065	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05622	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05624	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd05599	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	169	cd05580	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd06617	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05601	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05597	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05612	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	172	cd05573	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	132	cd06619	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05628	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05629	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	146	cd06652	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	134	cd07837	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05627	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05623	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd07869	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd06649	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05598	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05626	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	139	cd05574	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd06615	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	116	cd07847	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	138	cd07833	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	232	cd05581	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	145	cd07848	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	126	cd07862	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd07846	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd06653	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	131	cd06612	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	128	cd06610	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	152	cd05056	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05609	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	516	COG0515	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	133	cd06605	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	130	cd06622	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05596	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	158	cd05621	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	142	cd07875	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	135	cd07874	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	124	cd05081	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	134	cd06618	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	125	cd07852	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	183	cd05572	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	631	cd05123	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	111	cd05115	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	346	cd00180	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	111	cd05607	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	116	cd05577	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05579	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05586	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	113	cd05608	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd05068	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	113	cd05611	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd05073	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd05072	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	109	cd05585	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05631	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05630	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05632	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	125	cd07857	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd05613	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd05583	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	124	cd06628	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd08218	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	115	cd07839	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd08529	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd08217	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd06606	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd08223	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	116	cd08219	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	154	cd08215	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	220	cd07842	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd07836	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd08530	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd08221	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	123	cd06627	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	127	cd07863	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	126	cd08220	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	116	cd07860	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	123	cd08222	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd08225	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd06631	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05578	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd07861	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	159	cd07834	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	133	cd07841	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	138	cd08528	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	149	cd05050	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd07853	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05616	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd05587	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05615	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd05614	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	131	cd07832	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd07859	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd06651	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	149	cd05122	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd07873	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd06642	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd06640	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	124	cd07856	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd07844	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd06641	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	137	cd07845	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd07872	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd06645	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	131	cd06634	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05600	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	114	cd05606	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	139	cd05035	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	135	cd06632	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	113	cd05633	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	151	cd06623	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	114	cd05582	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd06626	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05625	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd05584	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd08216	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd08226	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd06620	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05602	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd05042	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05041	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	110	cd05084	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	111	cd05595	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	111	cd05571	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	111	cd05594	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05620	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05604	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05592	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05619	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd06630	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	128	cd05047	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd05040	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	110	cd05085	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	323	cd00192	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd05058	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05575	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	126	cd06629	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	111	cd05116	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	114	cd05570	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05060	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	111	cd05593	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	126	cd06621	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05590	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05588	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05618	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05591	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05617	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	112	cd05603	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	143	cd05049	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	177	cd05057	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	137	cd06636	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05605	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	123	cd05080	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd06613	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	125	cd05109	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd07870	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	125	cd05108	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05082	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	135	cd05062	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	180	cd05032	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05070	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	136	cd05061	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05069	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	120	cd05052	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	133	cd06659	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	132	cd06648	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	134	cd06658	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	132	cd06657	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd07871	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	129	cd06624	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	131	cd06607	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	150	cd07851	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	139	cd07876	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	122	cd06646	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	137	cd06633	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	134	cd07880	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	144	cd07879	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	134	cd07878	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	151	cd06639	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	166	cd06614	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	141	cd06635	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	132	cd06654	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	131	cd06656	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	131	cd06655	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	131	cd06647	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	136	cd07877	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	384	smart00220	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	119	cd06643	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	118	cd05059	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	149	cd05033	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	165	cd07840	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd07831	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	156	cd07829	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	270	pfam07714	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	142	cd07835	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	400	smart00219	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	pfam00069	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	142	cd07838	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	477	smart00221	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	168	cd07830	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	121	cd06611	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	129	cd05074	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05589	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	117	cd05113	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	116	cd05112	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	116	cd05114	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	140	cd07865	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	144	cd07855	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	126	cd07849	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	126	cd06917	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	124	cd05063	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	125	cd07858	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	139	cd06609	4505785,NP_000285
5261	125536	Disease	p.His144Tyr	172471.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	33	smart00750	4505785,NP_000285
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	216	cd07843	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	264	cd07866	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	221	cd05048	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	221	cd06638	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	223	cd07854	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	215	cd05088	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd08228	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	210	cd06616	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	205	cd05118	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd07868	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd07867	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd08229	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	210	cd05089	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	230	cd05038	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	199	cd08224	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	213	cd07850	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	206	cd05034	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd06625	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	207	cd06644	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	213	cd07864	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd06637	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	245	cd06608	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	203	cd05111	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	203	cd05065	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	239	cd05622	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	918	COG0515	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	200	cd05624	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	407	cd05599	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	255	cd05580	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	200	cd06617	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	204	cd05601	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd05597	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	190	cd05612	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	337	cd05573	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	206	cd06619	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	240	cd05626	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	225	cd06652	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	212	cd07837	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	200	cd05623	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	254	cd05629	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd07869	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	194	cd06649	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	253	cd05598	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	289	cd05574	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	192	cd06615	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	200	cd07847	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	252	cd07833	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	443	cd05581	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	222	cd07848	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd07862	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	195	cd07846	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	201	cd06653	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	212	cd06612	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	216	cd06610	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	231	cd05056	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	209	cd05609	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	216	cd06605	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	217	cd06622	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	228	cd05627	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	228	cd05628	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	240	cd05596	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	239	cd05621	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	217	cd07875	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	210	cd07874	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	203	cd05081	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	215	cd06618	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	221	cd07852	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	189	cd05586	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	263	cd05572	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	804	cd05123	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	190	cd05115	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	677	cd00180	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	187	cd05607	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd05577	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	736	cd05579	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	189	cd05608	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	201	cd05068	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	384	cd05611	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd05073	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd05072	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	185	cd05585	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd05631	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd05630	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd05632	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	210	cd07857	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	213	cd05613	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	201	cd05583	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd06628	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd08218	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	192	cd07839	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd08529	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	265	cd08217	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	338	cd06606	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	194	cd08223	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	192	cd08219	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	261	cd08215	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	308	cd07842	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd07836	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	200	cd08530	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd08221	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	237	cd06627	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd07863	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd08220	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd07860	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd08222	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	194	cd08225	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd06631	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	203	cd05578	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	195	cd07861	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	281	cd07834	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	230	cd07841	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	215	cd08528	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	227	cd05050	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd07853	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd05615	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd05587	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd05616	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	199	cd05614	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	215	cd07832	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	205	cd07859	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	201	cd06651	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	237	cd05122	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	197	cd07873	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd06642	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd06640	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd07856	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	197	cd07844	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd06641	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	216	cd07845	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	197	cd07872	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	201	cd06645	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	206	cd06634	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	261	cd05600	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	189	cd05606	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	217	cd05035	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	218	cd06632	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05633	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	240	cd05625	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	251	cd06623	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	190	cd05582	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	239	cd06626	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd05584	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	205	cd08216	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd08226	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd06620	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd08227	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05602	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	205	cd05042	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	191	cd05041	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	189	cd05084	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	187	cd05595	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05571	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05594	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05618	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05604	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05588	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	203	cd05620	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05617	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	201	cd06630	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	203	cd05047	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd05040	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05085	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	204	cd05592	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05619	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	430	cd00192	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	201	cd05058	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05575	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd06629	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	190	cd05116	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	190	cd05570	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	200	cd05060	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	187	cd05593	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	201	cd06621	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05591	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05590	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05603	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	229	cd05049	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	257	cd05057	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	218	cd06636	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd05605	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd05080	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	201	cd06613	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	203	cd05109	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd07870	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	203	cd05108	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	191	cd05082	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	213	cd05062	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	258	cd05032	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	195	cd05070	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	216	cd05061	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	195	cd05069	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	197	cd05052	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	209	cd06659	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd06648	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	210	cd06658	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd06657	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd07871	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd06624	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	206	cd06607	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	228	cd07851	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	214	cd07876	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	201	cd06646	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	212	cd06633	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd07880	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	218	cd07879	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd07878	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	232	cd06639	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	246	cd06614	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	216	cd06635	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd06654	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	207	cd06656	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	207	cd06655	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	207	cd06647	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	210	cd07877	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	786	smart00220	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	200	cd06643	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd05059	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	237	cd05033	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	292	cd07840	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	199	cd07831	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	247	cd07829	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	389	pfam07714	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	220	cd07835	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	582	smart00219	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	344	pfam00069	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	244	cd07838	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	858	smart00221	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	268	cd07830	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd06611	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	207	cd05074	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd05589	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	194	cd05113	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd05112	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd05114	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	244	cd07865	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	252	cd07855	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	217	cd07849	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	206	cd06917	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	203	cd05063	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	206	cd07858	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	223	cd06609	NULL
5261	289063422	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	183	smart00750	NULL
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	216	cd07843	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	264	cd07866	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	221	cd05048	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	221	cd06638	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	223	cd07854	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	215	cd05088	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd08228	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	210	cd06616	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	205	cd05118	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd07868	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd07867	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd08229	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	210	cd05089	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	230	cd05038	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	199	cd08224	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	213	cd07850	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	206	cd05034	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd06625	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	207	cd06644	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	213	cd07864	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd06637	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	245	cd06608	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	203	cd05111	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	203	cd05065	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	239	cd05622	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	200	cd05624	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	407	cd05599	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	255	cd05580	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	200	cd06617	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	204	cd05601	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd05597	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	190	cd05612	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	337	cd05573	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	206	cd06619	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	228	cd05628	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	254	cd05629	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	225	cd06652	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	212	cd07837	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	228	cd05627	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	200	cd05623	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd07869	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	194	cd06649	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	253	cd05598	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	240	cd05626	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	289	cd05574	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	192	cd06615	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	200	cd07847	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	252	cd07833	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	443	cd05581	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	222	cd07848	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd07862	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	195	cd07846	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	201	cd06653	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	212	cd06612	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	216	cd06610	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	231	cd05056	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	209	cd05609	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	918	COG0515	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	216	cd06605	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	217	cd06622	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	240	cd05596	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	239	cd05621	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	217	cd07875	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	210	cd07874	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	203	cd05081	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	215	cd06618	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	221	cd07852	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	263	cd05572	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	804	cd05123	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	190	cd05115	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	677	cd00180	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	187	cd05607	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd05577	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	736	cd05579	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	189	cd05586	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	189	cd05608	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	201	cd05068	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	384	cd05611	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd05073	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd05072	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	185	cd05585	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd05631	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd05630	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd05632	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	210	cd07857	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	213	cd05613	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	201	cd05583	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd06628	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd08218	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	192	cd07839	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd08529	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	265	cd08217	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	338	cd06606	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	194	cd08223	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	192	cd08219	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	261	cd08215	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	308	cd07842	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd07836	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	200	cd08530	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd08221	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	237	cd06627	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd07863	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd08220	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd07860	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd08222	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	194	cd08225	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd06631	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	203	cd05578	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	195	cd07861	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	281	cd07834	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	230	cd07841	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	215	cd08528	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	227	cd05050	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd07853	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd05616	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd05587	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd05615	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	199	cd05614	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	215	cd07832	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	205	cd07859	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	201	cd06651	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	237	cd05122	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	197	cd07873	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd06642	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd06640	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd07856	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	197	cd07844	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd06641	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	216	cd07845	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	197	cd07872	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	201	cd06645	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	206	cd06634	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	261	cd05600	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	189	cd05606	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	217	cd05035	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	218	cd06632	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05633	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	251	cd06623	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	190	cd05582	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	239	cd06626	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	240	cd05625	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd05584	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	205	cd08216	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd08226	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd06620	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05602	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	205	cd05042	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	191	cd05041	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	189	cd05084	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	187	cd05595	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05571	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05594	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	203	cd05620	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05604	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	204	cd05592	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05619	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	201	cd06630	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	203	cd05047	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd05040	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05085	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	430	cd00192	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	201	cd05058	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05575	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd06629	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	190	cd05116	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	190	cd05570	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	200	cd05060	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	187	cd05593	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	201	cd06621	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05590	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05588	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05618	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05591	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05617	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	188	cd05603	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	229	cd05049	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	257	cd05057	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	218	cd06636	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd05605	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd05080	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	201	cd06613	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	203	cd05109	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd07870	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	203	cd05108	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	191	cd05082	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	213	cd05062	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	258	cd05032	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	195	cd05070	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	216	cd05061	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	195	cd05069	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	197	cd05052	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	209	cd06659	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd06648	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	210	cd06658	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd06657	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	196	cd07871	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd06624	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	206	cd06607	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	228	cd07851	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	214	cd07876	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	201	cd06646	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	212	cd06633	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd07880	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	218	cd07879	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd07878	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	232	cd06639	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	246	cd06614	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	216	cd06635	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	208	cd06654	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	207	cd06656	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	207	cd06655	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	207	cd06647	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	210	cd07877	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	786	smart00220	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	200	cd06643	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	198	cd05059	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	237	cd05033	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	292	cd07840	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	199	cd07831	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	247	cd07829	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	389	pfam07714	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	220	cd07835	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	582	smart00219	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	344	pfam00069	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	244	cd07838	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	858	smart00221	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	268	cd07830	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	202	cd06611	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	207	cd05074	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd05589	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	194	cd05113	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd05112	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	193	cd05114	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	244	cd07865	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	252	cd07855	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	217	cd07849	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	206	cd06917	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	203	cd05063	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	206	cd07858	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	223	cd06609	4505785,NP_000285
5261	125536	Disease	p.Leu225Arg	172471.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172471	GLYCOGEN STORAGE DISEASE IXc	OMIM	183	smart00750	4505785,NP_000285
4522	222136639	Disease	p.Arg293His	172460.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172460	SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO	OMIM	204	pfam02882	NULL
4522	222136639	Disease	p.Arg293His	172460.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172460	SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO	OMIM	346	COG0190	NULL
4522	222136639	Disease	p.Arg653Gln	172460.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172460	NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO||ABRUPTIO PLACENTAE, SUSCEPTIBILITY TO	OMIM	333	cd01983	NULL
4522	222136639	Disease	p.Arg653Gln	172460.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172460	NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO||ABRUPTIO PLACENTAE, SUSCEPTIBILITY TO	OMIM	369	cd00477	NULL
4522	222136639	Disease	p.Arg653Gln	172460.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172460	NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO||ABRUPTIO PLACENTAE, SUSCEPTIBILITY TO	OMIM	441	pfam01268	NULL
4522	222136639	Disease	p.Arg653Gln	172460.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172460	NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO||ABRUPTIO PLACENTAE, SUSCEPTIBILITY TO	OMIM	343	COG2759	NULL
5350	130774	Disease	p.Arg9Cys	172405.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172405	CARDIOMYOPATHY, DILATED, 1P	OMIM	9	pfam04272	4505887,NP_002658
10007	1171639	Disease	p.Gly158Ser	172400.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	193	COG0363	13027378,NP_005462
10007	1171639	Disease	p.Gly158Ser	172400.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	146	cd00458	13027378,NP_005462
10007	1171639	Disease	p.Gly158Ser	172400.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	327	cd01400	13027378,NP_005462
10007	1171639	Disease	p.Gly158Ser	172400.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	181	cd01399	13027378,NP_005462
10007	1171639	Disease	p.Gly158Ser	172400.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	144	pfam01182	13027378,NP_005462
10007	1171639	Disease	p.Arg346His	172400.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	No Domain	N/A	13027378,NP_005462
10007	1171639	Disease	p.Ile524Thr	172400.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	No Domain	N/A	13027378,NP_005462
10007	1171639	Disease	p.Asp539Asn	172400.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	No Domain	N/A	13027378,NP_005462
10007	1171639	Disease	p.Thr224Met	172400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	268	COG0363	13027378,NP_005462
10007	1171639	Disease	p.Thr224Met	172400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	277	cd00458	13027378,NP_005462
10007	1171639	Disease	p.Thr224Met	172400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	390	cd01400	13027378,NP_005462
10007	1171639	Disease	p.Thr224Met	172400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	259	cd01399	13027378,NP_005462
10007	1171639	Disease	p.Thr224Met	172400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	212	pfam01182	13027378,NP_005462
10007	1171639	Disease	p.His20Pro	172400.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	20	COG0363	13027378,NP_005462
10007	1171639	Disease	p.His20Pro	172400.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	8	cd00458	13027378,NP_005462
10007	1171639	Disease	p.His20Pro	172400.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	12	cd01400	13027378,NP_005462
10007	1171639	Disease	p.His20Pro	172400.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	11	cd01399	13027378,NP_005462
10007	1171639	Disease	p.His20Pro	172400.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	6	pfam01182	13027378,NP_005462
10007	1171639	Disease	p.Leu339Pro	172400.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	No Domain	N/A	13027378,NP_005462
10007	1171639	Disease	p.Gln343Arg	172400.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	No Domain	N/A	13027378,NP_005462
10007	1171639	Disease	p.Thr5Ile	172400.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	5	COG0363	13027378,NP_005462
10007	1171639	Disease	p.Thr375Arg	172400.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	No Domain	N/A	13027378,NP_005462
10007	1171639	Disease	p.Asp539Asn	172400.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172400	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	OMIM	No Domain	N/A	13027378,NP_005462
5236	585670	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	139	cd05801	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	126	cd03089	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	109	cd05800	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	124	pfam02878	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	133	COG0033	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	187	cd05799	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	100	cd03087	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	106	cd05802	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	172	COG1109	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	108	cd03084	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	107	cd05803	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	119	cd03085	21361621,NP_002624
5236	290463104	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	14	pfam02880	NULL
5236	290463104	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	339	cd03085	NULL
5236	290463104	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	382	cd03084	NULL
5236	290463104	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	317	cd05800	NULL
5236	290463104	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	495	cd05799	NULL
5236	290463104	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	339	COG0033	NULL
5236	290463102	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	98	pfam02878	NULL
5236	290463102	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	99	cd03089	NULL
5236	290463102	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	87	cd05802	NULL
5236	290463102	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	82	cd03087	NULL
5236	290463102	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	166	cd05799	NULL
5236	290463102	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	102	COG0033	NULL
5236	290463102	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	90	cd03084	NULL
5236	290463102	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	89	cd05803	NULL
5236	290463102	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	90	cd05800	NULL
5236	290463102	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	95	cd03085	NULL
5236	290463102	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	150	COG1109	NULL
5236	290463102	Disease	p.Thr115Ala	171900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171900	GLYCOGEN STORAGE DISEASE XIV	OMIM	108	cd05801	NULL
249	294660772	Disease	p.Ala162Thr	171760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	214	smart00098	NULL
249	294660772	Disease	p.Ala162Thr	171760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	237	cd00016	NULL
249	294660772	Disease	p.Ala162Thr	171760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	206	pfam00245	NULL
249	294660772	Disease	p.Ala162Thr	171760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	297_G	COG1785	NULL
249	294660770	Disease	p.Ala162Thr	171760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	192	smart00098	NULL
249	294660770	Disease	p.Ala162Thr	171760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	278	COG1785	NULL
249	294660770	Disease	p.Ala162Thr	171760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	212	cd00016	NULL
249	294660770	Disease	p.Ala162Thr	171760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	184	pfam00245	NULL
249	68067533	Disease	p.Ala162Thr	171760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	125	smart00098	116734717,NP_000469
249	68067533	Disease	p.Ala162Thr	171760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	220	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ala162Thr	171760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	144	cd00016	116734717,NP_000469
249	68067533	Disease	p.Ala162Thr	171760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	122	pfam00245	116734717,NP_000469
249	294660772	Disease	p.Arg54Cys	171760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	84	smart00098	NULL
249	294660772	Disease	p.Arg54Cys	171760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	99	cd00016	NULL
249	294660772	Disease	p.Arg54Cys	171760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	87	pfam00245	NULL
249	294660772	Disease	p.Arg54Cys	171760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	183	COG1785	NULL
249	294660770	Disease	p.Arg54Cys	171760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	62	smart00098	NULL
249	294660770	Disease	p.Arg54Cys	171760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	158	COG1785	NULL
249	294660770	Disease	p.Arg54Cys	171760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	77	cd00016	NULL
249	294660770	Disease	p.Arg54Cys	171760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	65	pfam00245	NULL
249	68067533	Disease	p.Arg54Cys	171760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	3	smart00098	116734717,NP_000469
249	68067533	Disease	p.Arg54Cys	171760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	70	COG1785	116734717,NP_000469
249	68067533	Disease	p.Arg54Cys	171760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	9	cd00016	116734717,NP_000469
249	68067533	Disease	p.Arg54Cys	171760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	4	pfam00245	116734717,NP_000469
249	294660772	Disease	p.Asp277Ala	171760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	402	smart00098	NULL
249	294660772	Disease	p.Asp277Ala	171760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	386	cd00016	NULL
249	294660772	Disease	p.Asp277Ala	171760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	354	pfam00245	NULL
249	294660772	Disease	p.Asp277Ala	171760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	503	COG1785	NULL
249	294660770	Disease	p.Asp277Ala	171760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	380	smart00098	NULL
249	294660770	Disease	p.Asp277Ala	171760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	481	COG1785	NULL
249	294660770	Disease	p.Asp277Ala	171760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	364	cd00016	NULL
249	294660770	Disease	p.Asp277Ala	171760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	332	pfam00245	NULL
249	68067533	Disease	p.Asp277Ala	171760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	265	smart00098	116734717,NP_000469
249	68067533	Disease	p.Asp277Ala	171760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	335	COG1785	116734717,NP_000469
249	68067533	Disease	p.Asp277Ala	171760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	276	cd00016	116734717,NP_000469
249	68067533	Disease	p.Asp277Ala	171760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	248	pfam00245	116734717,NP_000469
249	294660772	Disease	p.Arg54Pro	171760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	84	smart00098	NULL
249	294660772	Disease	p.Arg54Pro	171760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	99	cd00016	NULL
249	294660772	Disease	p.Arg54Pro	171760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	87	pfam00245	NULL
249	294660772	Disease	p.Arg54Pro	171760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	183	COG1785	NULL
249	294660770	Disease	p.Arg54Pro	171760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	62	smart00098	NULL
249	294660770	Disease	p.Arg54Pro	171760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	158	COG1785	NULL
249	294660770	Disease	p.Arg54Pro	171760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	77	cd00016	NULL
249	294660770	Disease	p.Arg54Pro	171760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	65	pfam00245	NULL
249	68067533	Disease	p.Arg54Pro	171760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	3	smart00098	116734717,NP_000469
249	68067533	Disease	p.Arg54Pro	171760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	70	COG1785	116734717,NP_000469
249	68067533	Disease	p.Arg54Pro	171760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	9	cd00016	116734717,NP_000469
249	68067533	Disease	p.Arg54Pro	171760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	4	pfam00245	116734717,NP_000469
249	294660772	Disease	p.Gln190Pro	171760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	251	smart00098	NULL
249	294660772	Disease	p.Gln190Pro	171760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	266	cd00016	NULL
249	294660772	Disease	p.Gln190Pro	171760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	235	pfam00245	NULL
249	294660772	Disease	p.Gln190Pro	171760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	325_G	COG1785	NULL
249	294660770	Disease	p.Gln190Pro	171760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	228	smart00098	NULL
249	294660770	Disease	p.Gln190Pro	171760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	303	COG1785	NULL
249	294660770	Disease	p.Gln190Pro	171760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	243	cd00016	NULL
249	294660770	Disease	p.Gln190Pro	171760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	212	pfam00245	NULL
249	68067533	Disease	p.Gln190Pro	171760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	157	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gln190Pro	171760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	247_G	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gln190Pro	171760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	172	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gln190Pro	171760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	150	pfam00245	116734717,NP_000469
249	294660772	Disease	p.Ala16Val	171760.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	41	smart00098	NULL
249	294660772	Disease	p.Ala16Val	171760.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	55	cd00016	NULL
249	294660772	Disease	p.Ala16Val	171760.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	40	pfam00245	NULL
249	294660772	Disease	p.Ala16Val	171760.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	64	COG1785	NULL
249	294660770	Disease	p.Ala16Val	171760.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	20	smart00098	NULL
249	294660770	Disease	p.Ala16Val	171760.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	91	COG1785	NULL
249	294660770	Disease	p.Ala16Val	171760.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	26	cd00016	NULL
249	294660770	Disease	p.Ala16Val	171760.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	21	pfam00245	NULL
249	68067533	Disease	p.Ala16Val	171760.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	9	COG1785	116734717,NP_000469
249	294660772	Disease	p.Tyr419His	171760.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	No Domain	N/A	NULL
249	294660770	Disease	p.Tyr419His	171760.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	585	smart00098	NULL
249	294660770	Disease	p.Tyr419His	171760.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	698	COG1785	NULL
249	294660770	Disease	p.Tyr419His	171760.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	585	cd00016	NULL
249	294660770	Disease	p.Tyr419His	171760.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	518	pfam00245	NULL
249	68067533	Disease	p.Tyr419His	171760.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	474	smart00098	116734717,NP_000469
249	68067533	Disease	p.Tyr419His	171760.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	604	COG1785	116734717,NP_000469
249	68067533	Disease	p.Tyr419His	171760.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	475	cd00016	116734717,NP_000469
249	68067533	Disease	p.Tyr419His	171760.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	430	pfam00245	116734717,NP_000469
249	294660772	Disease	p.Glu174Lys	171760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	234	smart00098	NULL
249	294660772	Disease	p.Glu174Lys	171760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	249	cd00016	NULL
249	294660772	Disease	p.Glu174Lys	171760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	218	pfam00245	NULL
249	294660772	Disease	p.Glu174Lys	171760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	309	COG1785	NULL
249	294660770	Disease	p.Glu174Lys	171760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	204	smart00098	NULL
249	294660770	Disease	p.Glu174Lys	171760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	290	COG1785	NULL
249	294660770	Disease	p.Glu174Lys	171760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	224	cd00016	NULL
249	294660770	Disease	p.Glu174Lys	171760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	196	pfam00245	NULL
249	68067533	Disease	p.Glu174Lys	171760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	137	smart00098	116734717,NP_000469
249	68067533	Disease	p.Glu174Lys	171760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	232	COG1785	116734717,NP_000469
249	68067533	Disease	p.Glu174Lys	171760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	156	cd00016	116734717,NP_000469
249	68067533	Disease	p.Glu174Lys	171760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT	OMIM	134	pfam00245	116734717,NP_000469
249	294660772	Disease	p.Asp378Val	171760.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, ADULT	OMIM	559	smart00098	NULL
249	294660772	Disease	p.Asp378Val	171760.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, ADULT	OMIM	554	cd00016	NULL
249	294660772	Disease	p.Asp378Val	171760.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, ADULT	OMIM	492	pfam00245	NULL
249	294660772	Disease	p.Asp378Val	171760.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, ADULT	OMIM	672	COG1785	NULL
249	294660770	Disease	p.Asp378Val	171760.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, ADULT	OMIM	509	smart00098	NULL
249	294660770	Disease	p.Asp378Val	171760.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, ADULT	OMIM	629	COG1785	NULL
249	294660770	Disease	p.Asp378Val	171760.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, ADULT	OMIM	489	cd00016	NULL
249	294660770	Disease	p.Asp378Val	171760.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, ADULT	OMIM	469	pfam00245	NULL
249	68067533	Disease	p.Asp378Val	171760.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, ADULT	OMIM	428	smart00098	116734717,NP_000469
249	68067533	Disease	p.Asp378Val	171760.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, ADULT	OMIM	534	COG1785	116734717,NP_000469
249	68067533	Disease	p.Asp378Val	171760.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, ADULT	OMIM	415	cd00016	116734717,NP_000469
249	68067533	Disease	p.Asp378Val	171760.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, ADULT	OMIM	380	pfam00245	116734717,NP_000469
249	294660772	Disease	p.Gly317Asp	171760.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	445	smart00098	NULL
249	294660772	Disease	p.Gly317Asp	171760.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	431	cd00016	NULL
249	294660772	Disease	p.Gly317Asp	171760.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	402	pfam00245	NULL
249	294660772	Disease	p.Gly317Asp	171760.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	566	COG1785	NULL
249	294660770	Disease	p.Gly317Asp	171760.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	422	smart00098	NULL
249	294660770	Disease	p.Gly317Asp	171760.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	528	COG1785	NULL
249	294660770	Disease	p.Gly317Asp	171760.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	409	cd00016	NULL
249	294660770	Disease	p.Gly317Asp	171760.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	374	pfam00245	NULL
249	68067533	Disease	p.Gly317Asp	171760.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	352	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly317Asp	171760.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	460	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly317Asp	171760.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	342	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly317Asp	171760.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	310	pfam00245	116734717,NP_000469
249	294660772	Disease	p.Phe310Leu	171760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	437	smart00098	NULL
249	294660772	Disease	p.Phe310Leu	171760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	424	cd00016	NULL
249	294660772	Disease	p.Phe310Leu	171760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	395	pfam00245	NULL
249	294660772	Disease	p.Phe310Leu	171760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	543	COG1785	NULL
249	294660770	Disease	p.Phe310Leu	171760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	413	smart00098	NULL
249	294660770	Disease	p.Phe310Leu	171760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	518	COG1785	NULL
249	294660770	Disease	p.Phe310Leu	171760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	397	cd00016	NULL
249	294660770	Disease	p.Phe310Leu	171760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	365	pfam00245	NULL
249	68067533	Disease	p.Phe310Leu	171760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	345	smart00098	116734717,NP_000469
249	68067533	Disease	p.Phe310Leu	171760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	453	COG1785	116734717,NP_000469
249	68067533	Disease	p.Phe310Leu	171760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	335	cd00016	116734717,NP_000469
249	68067533	Disease	p.Phe310Leu	171760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	303	pfam00245	116734717,NP_000469
249	294660772	Disease	p.Arg119His	171760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	163	smart00098	NULL
249	294660772	Disease	p.Arg119His	171760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	183	cd00016	NULL
249	294660772	Disease	p.Arg119His	171760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	156	pfam00245	NULL
249	294660772	Disease	p.Arg119His	171760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	253	COG1785	NULL
249	294660770	Disease	p.Arg119His	171760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	137	smart00098	NULL
249	294660770	Disease	p.Arg119His	171760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	232	COG1785	NULL
249	294660770	Disease	p.Arg119His	171760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	156	cd00016	NULL
249	294660770	Disease	p.Arg119His	171760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	134	pfam00245	NULL
249	68067533	Disease	p.Arg119His	171760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	72	smart00098	116734717,NP_000469
249	68067533	Disease	p.Arg119His	171760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	168	COG1785	116734717,NP_000469
249	68067533	Disease	p.Arg119His	171760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	87	cd00016	116734717,NP_000469
249	68067533	Disease	p.Arg119His	171760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	75	pfam00245	116734717,NP_000469
249	294660772	Disease	p.Gly145Val	171760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	197	smart00098	NULL
249	294660772	Disease	p.Gly145Val	171760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	217	cd00016	NULL
249	294660772	Disease	p.Gly145Val	171760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	189	pfam00245	NULL
249	294660772	Disease	p.Gly145Val	171760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	283	COG1785	NULL
249	294660770	Disease	p.Gly145Val	171760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	169	smart00098	NULL
249	294660770	Disease	p.Gly145Val	171760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	258	COG1785	NULL
249	294660770	Disease	p.Gly145Val	171760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	187	cd00016	NULL
249	294660770	Disease	p.Gly145Val	171760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	165	pfam00245	NULL
249	68067533	Disease	p.Gly145Val	171760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	108	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly145Val	171760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	203	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly145Val	171760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	127	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly145Val	171760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD	OMIM	103	pfam00245	116734717,NP_000469
249	294660772	Disease	p.Ala99Thr	171760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT||ODONTOHYPOPHOSPHATASIA	OMIM	139	smart00098	NULL
249	294660772	Disease	p.Ala99Thr	171760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT||ODONTOHYPOPHOSPHATASIA	OMIM	158	cd00016	NULL
249	294660772	Disease	p.Ala99Thr	171760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT||ODONTOHYPOPHOSPHATASIA	OMIM	136	pfam00245	NULL
249	294660772	Disease	p.Ala99Thr	171760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT||ODONTOHYPOPHOSPHATASIA	OMIM	234	COG1785	NULL
249	294660770	Disease	p.Ala99Thr	171760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT||ODONTOHYPOPHOSPHATASIA	OMIM	117	smart00098	NULL
249	294660770	Disease	p.Ala99Thr	171760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT||ODONTOHYPOPHOSPHATASIA	OMIM	212	COG1785	NULL
249	294660770	Disease	p.Ala99Thr	171760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT||ODONTOHYPOPHOSPHATASIA	OMIM	136	cd00016	NULL
249	294660770	Disease	p.Ala99Thr	171760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT||ODONTOHYPOPHOSPHATASIA	OMIM	114	pfam00245	NULL
249	68067533	Disease	p.Ala99Thr	171760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT||ODONTOHYPOPHOSPHATASIA	OMIM	51	smart00098	116734717,NP_000469
249	68067533	Disease	p.Ala99Thr	171760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT||ODONTOHYPOPHOSPHATASIA	OMIM	126	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ala99Thr	171760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT||ODONTOHYPOPHOSPHATASIA	OMIM	61	cd00016	116734717,NP_000469
249	68067533	Disease	p.Ala99Thr	171760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT||ODONTOHYPOPHOSPHATASIA	OMIM	49	pfam00245	116734717,NP_000469
249	294660772	Disease	p.Asn400Ser	171760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	588	smart00098	NULL
249	294660772	Disease	p.Asn400Ser	171760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	588	cd00016	NULL
249	294660772	Disease	p.Asn400Ser	171760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	521	pfam00245	NULL
249	294660772	Disease	p.Asn400Ser	171760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	701	COG1785	NULL
249	294660770	Disease	p.Asn400Ser	171760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	559	smart00098	NULL
249	294660770	Disease	p.Asn400Ser	171760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	672	COG1785	NULL
249	294660770	Disease	p.Asn400Ser	171760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	554	cd00016	NULL
249	294660770	Disease	p.Asn400Ser	171760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	492	pfam00245	NULL
249	68067533	Disease	p.Asn400Ser	171760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	451	smart00098	116734717,NP_000469
249	68067533	Disease	p.Asn400Ser	171760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	581	COG1785	116734717,NP_000469
249	68067533	Disease	p.Asn400Ser	171760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	456	cd00016	116734717,NP_000469
249	68067533	Disease	p.Asn400Ser	171760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	408	pfam00245	116734717,NP_000469
249	294660772	Disease	p.Pro91Leu	171760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	ODONTOHYPOPHOSPHATASIA	OMIM	131	smart00098	NULL
249	294660772	Disease	p.Pro91Leu	171760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	ODONTOHYPOPHOSPHATASIA	OMIM	150	cd00016	NULL
249	294660772	Disease	p.Pro91Leu	171760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	ODONTOHYPOPHOSPHATASIA	OMIM	128	pfam00245	NULL
249	294660772	Disease	p.Pro91Leu	171760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	ODONTOHYPOPHOSPHATASIA	OMIM	226	COG1785	NULL
249	294660770	Disease	p.Pro91Leu	171760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	ODONTOHYPOPHOSPHATASIA	OMIM	109	smart00098	NULL
249	294660770	Disease	p.Pro91Leu	171760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	ODONTOHYPOPHOSPHATASIA	OMIM	204	COG1785	NULL
249	294660770	Disease	p.Pro91Leu	171760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	ODONTOHYPOPHOSPHATASIA	OMIM	128	cd00016	NULL
249	294660770	Disease	p.Pro91Leu	171760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	ODONTOHYPOPHOSPHATASIA	OMIM	104	pfam00245	NULL
249	68067533	Disease	p.Pro91Leu	171760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	ODONTOHYPOPHOSPHATASIA	OMIM	42	smart00098	116734717,NP_000469
249	68067533	Disease	p.Pro91Leu	171760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	ODONTOHYPOPHOSPHATASIA	OMIM	118_G	COG1785	116734717,NP_000469
249	68067533	Disease	p.Pro91Leu	171760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	ODONTOHYPOPHOSPHATASIA	OMIM	53	cd00016	116734717,NP_000469
249	68067533	Disease	p.Pro91Leu	171760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	ODONTOHYPOPHOSPHATASIA	OMIM	41	pfam00245	116734717,NP_000469
249	294660772	Disease	p.Gly439Arg	171760.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	No Domain	N/A	NULL
249	294660770	Disease	p.Gly439Arg	171760.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	No Domain	N/A	NULL
249	68067533	Disease	p.Gly439Arg	171760.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	515	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly439Arg	171760.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	635	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly439Arg	171760.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	538	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly439Arg	171760.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	476	pfam00245	116734717,NP_000469
249	294660772	Disease	p.Glu281Lys	171760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	406	smart00098	NULL
249	294660772	Disease	p.Glu281Lys	171760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	390	cd00016	NULL
249	294660772	Disease	p.Glu281Lys	171760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	358	pfam00245	NULL
249	294660772	Disease	p.Glu281Lys	171760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	507	COG1785	NULL
249	294660770	Disease	p.Glu281Lys	171760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	384	smart00098	NULL
249	294660770	Disease	p.Glu281Lys	171760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	485	COG1785	NULL
249	294660770	Disease	p.Glu281Lys	171760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	368	cd00016	NULL
249	294660770	Disease	p.Glu281Lys	171760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	336	pfam00245	NULL
249	68067533	Disease	p.Glu281Lys	171760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	270	smart00098	116734717,NP_000469
249	68067533	Disease	p.Glu281Lys	171760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	347	COG1785	116734717,NP_000469
249	68067533	Disease	p.Glu281Lys	171760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	280	cd00016	116734717,NP_000469
249	68067533	Disease	p.Glu281Lys	171760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE	OMIM	252	pfam00245	116734717,NP_000469
249	294660772	Disease	p.Gly232Val	171760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||ODONTOHYPOPHOSPHATASIA	OMIM	344	smart00098	NULL
249	294660772	Disease	p.Gly232Val	171760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||ODONTOHYPOPHOSPHATASIA	OMIM	334	cd00016	NULL
249	294660772	Disease	p.Gly232Val	171760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||ODONTOHYPOPHOSPHATASIA	OMIM	302	pfam00245	NULL
249	294660772	Disease	p.Gly232Val	171760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||ODONTOHYPOPHOSPHATASIA	OMIM	452	COG1785	NULL
249	294660770	Disease	p.Gly232Val	171760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||ODONTOHYPOPHOSPHATASIA	OMIM	276	smart00098	NULL
249	294660770	Disease	p.Gly232Val	171760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||ODONTOHYPOPHOSPHATASIA	OMIM	353	COG1785	NULL
249	294660770	Disease	p.Gly232Val	171760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||ODONTOHYPOPHOSPHATASIA	OMIM	290	cd00016	NULL
249	294660770	Disease	p.Gly232Val	171760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||ODONTOHYPOPHOSPHATASIA	OMIM	259	pfam00245	NULL
249	68067533	Disease	p.Gly232Val	171760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||ODONTOHYPOPHOSPHATASIA	OMIM	207	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly232Val	171760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||ODONTOHYPOPHOSPHATASIA	OMIM	293	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly232Val	171760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||ODONTOHYPOPHOSPHATASIA	OMIM	227	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly232Val	171760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, CHILDHOOD||ODONTOHYPOPHOSPHATASIA	OMIM	199	pfam00245	116734717,NP_000469
249	294660772	Disease	p.Ala176Thr	171760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	236	smart00098	NULL
249	294660772	Disease	p.Ala176Thr	171760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	251	cd00016	NULL
249	294660772	Disease	p.Ala176Thr	171760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	220	pfam00245	NULL
249	294660772	Disease	p.Ala176Thr	171760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	311	COG1785	NULL
249	294660770	Disease	p.Ala176Thr	171760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	206	smart00098	NULL
249	294660770	Disease	p.Ala176Thr	171760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	292	COG1785	NULL
249	294660770	Disease	p.Ala176Thr	171760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	226	cd00016	NULL
249	294660770	Disease	p.Ala176Thr	171760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	198	pfam00245	NULL
249	68067533	Disease	p.Ala176Thr	171760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	139	smart00098	116734717,NP_000469
249	68067533	Disease	p.Ala176Thr	171760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	234	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ala176Thr	171760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	158	cd00016	116734717,NP_000469
249	68067533	Disease	p.Ala176Thr	171760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	136	pfam00245	116734717,NP_000469
249	294660772	Disease	p.Arg272Cys	171760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	397	smart00098	NULL
249	294660772	Disease	p.Arg272Cys	171760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	381	cd00016	NULL
249	294660772	Disease	p.Arg272Cys	171760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	349	pfam00245	NULL
249	294660772	Disease	p.Arg272Cys	171760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	498	COG1785	NULL
249	294660770	Disease	p.Arg272Cys	171760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	375	smart00098	NULL
249	294660770	Disease	p.Arg272Cys	171760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	476	COG1785	NULL
249	294660770	Disease	p.Arg272Cys	171760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	359	cd00016	NULL
249	294660770	Disease	p.Arg272Cys	171760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	327	pfam00245	NULL
249	68067533	Disease	p.Arg272Cys	171760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	256	smart00098	116734717,NP_000469
249	68067533	Disease	p.Arg272Cys	171760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	330	COG1785	116734717,NP_000469
249	68067533	Disease	p.Arg272Cys	171760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	271	cd00016	116734717,NP_000469
249	68067533	Disease	p.Arg272Cys	171760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760	HYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD	OMIM	240	pfam00245	116734717,NP_000469
52	6005988	Disease	p.Arg105Gln	171500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171500	ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF	OMIM	121	cd00115	NULL
52	6005988	Disease	p.Arg105Gln	171500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171500	ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF	OMIM	110	pfam01451	NULL
52	6005988	Disease	p.Arg105Gln	171500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171500	ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF	OMIM	108	smart00226	NULL
52	6005988	Disease	p.Arg105Gln	171500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171500	ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF	OMIM	109	COG0394	NULL
52	96304457	Disease	p.Arg105Gln	171500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171500	ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF	OMIM	179	cd00115	NULL
52	96304457	Disease	p.Arg105Gln	171500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171500	ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF	OMIM	126	pfam01451	NULL
52	96304457	Disease	p.Arg105Gln	171500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171500	ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF	OMIM	123	smart00226	NULL
52	96304457	Disease	p.Arg105Gln	171500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171500	ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF	OMIM	180	COG0394	NULL
52	1709543	Disease	p.Arg105Gln	171500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171500	ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF	OMIM	121	cd00115	4757714,NP_004291
52	1709543	Disease	p.Arg105Gln	171500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171500	ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF	OMIM	110	pfam01451	4757714,NP_004291
52	1709543	Disease	p.Arg105Gln	171500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171500	ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF	OMIM	108	smart00226	4757714,NP_004291
52	1709543	Disease	p.Arg105Gln	171500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171500	ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF	OMIM	109	COG0394	4757714,NP_004291
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	168	COG1121	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	208	cd03233	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	237	cd03213	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	191	cd03234	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	494	COG1122	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	185	cd03232	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	263	COG1124	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	190	cd03369	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	223	COG0396	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	168	COG1116	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	170	COG3638	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	429	COG3839	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	214	COG0488	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	693	COG2274	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	163	COG4181	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	384	COG3842	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	174	COG1127	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	199	COG1129	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	145	cd03265	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	449	COG4172	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	134	cd03237	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	228	cd03288	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	262	smart00382	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	477	COG4615	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	156	cd03245	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	212	COG1120	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	155	cd03254	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	198	cd03244	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	175	COG1118	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	153	COG4525	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	173	COG1126	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	152	COG4133	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	144	COG4152	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	169	cd03289	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	219	cd03214	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	162	cd03235	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	1287	cd00267	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	189	cd03225	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	170	cd03226	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	187	COG1117	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	160	COG1137	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	178	cd03248	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	692	COG1123	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	150	cd03268	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	158	cd03247	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	181	cd03259	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	536	cd03238	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	142	cd03298	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	212	cd03301	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	160	cd03266	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	170	cd03264	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	169	cd03224	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	153	cd03222	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	149	COG4604	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	318	cd03228	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	198	cd03229	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	165	cd03290	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	265	cd03250	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	264	cd03221	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	190	cd03293	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	180	cd03260	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	148	cd03300	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	172	cd03251	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	180	cd03294	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	151	COG4555	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	155	cd03261	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	145	COG4138	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	172	cd03253	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	153	cd03252	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	280	cd03249	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	213	cd03263	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	151	COG4619	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	170	cd03267	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	183	cd03255	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	155	cd03246	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	165	cd03262	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	181	cd03230	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	239	cd03223	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	151	cd03292	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	190	cd03219	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	155	cd03218	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	164	cd03217	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	166	cd03256	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	184	cd03216	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	150	cd03295	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	173	cd03291	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	166	COG4107	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	167	COG4598	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	193	COG4586	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	416	COG5265	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	265	pfam00005	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	1398	COG1132	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	166	COG4778	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	166	COG3845	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	212	COG1131	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	188	COG4175	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	178	COG1134	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	831	COG4178	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	143	cd03299	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	163	cd03297	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	146	COG4148	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	506	COG4987	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	219	COG1119	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	758	COG4608	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	189	COG1136	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	153	cd03236	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	423	cd03257	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	143	COG3840	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	156	COG4161	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	173	COG0410	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	151	cd03296	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	165	cd03258	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	476	COG0444	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	156	COG1125	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	181	COG1135	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	152	COG2884	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	487	COG4988	NULL
5244	4505771	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	244	cd03271	NULL
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	168	COG1121	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	208	cd03233	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	237	cd03213	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	191	cd03234	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	494	COG1122	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	185	cd03232	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	263	COG1124	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	190	cd03369	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	223	COG0396	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	168	COG1116	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	170	COG3638	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	429	COG3839	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	214	COG0488	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	693	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	163	COG4181	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	384	COG3842	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	174	COG1127	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	199	COG1129	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	145	cd03265	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	449	COG4172	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	134	cd03237	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	228	cd03288	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	262	smart00382	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	477	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	156	cd03245	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	212	COG1120	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	155	cd03254	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	198	cd03244	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	175	COG1118	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	153	COG4525	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	173	COG1126	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	152	COG4133	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	144	COG4152	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	150	COG4136	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	169	cd03289	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	219	cd03214	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	162	cd03235	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	1287	cd00267	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	189	cd03225	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	170	cd03226	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	187	COG1117	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	160	COG1137	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	178	cd03248	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	692	COG1123	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	150	cd03268	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	158	cd03247	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	181	cd03220	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	181	cd03259	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	536	cd03238	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	143	cd03269	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	142	cd03298	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	212	cd03301	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	160	cd03266	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	170	cd03264	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	169	cd03224	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	318	cd03228	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	198	cd03229	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	165	cd03290	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	265	cd03250	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	264	cd03221	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	190	cd03293	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	153	cd03222	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	149	COG4604	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	180	cd03260	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	148	cd03300	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	172	cd03251	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	180	cd03294	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	151	COG4555	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	155	cd03261	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	145	COG4138	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	172	cd03253	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	153	cd03252	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	280	cd03249	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	213	cd03263	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	151	COG4619	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	170	cd03267	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	190	cd03219	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	155	cd03218	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	183	cd03255	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	155	cd03246	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	165	cd03262	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	181	cd03230	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	239	cd03223	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	313	cd03215	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	151	cd03292	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	164	cd03217	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	166	cd03256	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	184	cd03216	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	150	cd03295	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	173	cd03291	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	166	COG4107	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	167	COG4598	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	193	COG4586	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	416	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	521	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	265	pfam00005	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	1398	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	163	COG4167	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	217	COG0411	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	166	COG3845	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	212	COG1131	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	188	COG4175	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	178	COG1134	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	143	cd03299	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	163	cd03297	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	831	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	146	COG4148	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	506	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	219	COG1119	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	758	COG4608	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	189	COG1136	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	153	cd03236	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	423	cd03257	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	143	COG3840	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	156	COG4161	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	173	COG0410	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	151	cd03296	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	165	cd03258	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	149	COG4559	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	476	COG0444	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	156	COG1125	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	181	COG1135	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	152	COG2884	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	487	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	244	cd03271	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	142	cd03231	9961250,NP_061337
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	168	COG1121	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	208	cd03233	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	237	cd03213	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	191	cd03234	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	494	COG1122	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	185	cd03232	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	263	COG1124	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	190	cd03369	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	223	COG0396	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	168	COG1116	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	170	COG3638	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	429	COG3839	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	214	COG0488	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	693	COG2274	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	163	COG4181	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	384	COG3842	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	174	COG1127	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	199	COG1129	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	145	cd03265	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	449	COG4172	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	134	cd03237	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	228	cd03288	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	262	smart00382	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	477	COG4615	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	156	cd03245	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	212	COG1120	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	155	cd03254	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	198	cd03244	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	175	COG1118	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	153	COG4525	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	173	COG1126	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	152	COG4133	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	144	COG4152	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	169	cd03289	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	219	cd03214	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	162	cd03235	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	1287	cd00267	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	189	cd03225	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	170	cd03226	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	187	COG1117	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	160	COG1137	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	178	cd03248	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	692	COG1123	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	150	cd03268	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	158	cd03247	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	181	cd03259	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	536	cd03238	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	142	cd03298	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	212	cd03301	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	160	cd03266	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	170	cd03264	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	169	cd03224	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	318	cd03228	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	198	cd03229	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	165	cd03290	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	265	cd03250	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	264	cd03221	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	190	cd03293	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	153	cd03222	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	149	COG4604	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	180	cd03260	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	148	cd03300	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	172	cd03251	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	180	cd03294	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	151	COG4555	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	155	cd03261	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	145	COG4138	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	172	cd03253	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	153	cd03252	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	280	cd03249	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	213	cd03263	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	151	COG4619	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	170	cd03267	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	183	cd03255	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	155	cd03246	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	165	cd03262	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	181	cd03230	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	239	cd03223	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	151	cd03292	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	190	cd03219	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	155	cd03218	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	184	cd03216	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	164	cd03217	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	166	cd03256	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	150	cd03295	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	173	cd03291	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	166	COG4107	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	167	COG4598	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	193	COG4586	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	416	COG5265	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	265	pfam00005	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	1398	COG1132	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	166	COG4778	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	166	COG3845	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	212	COG1131	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	188	COG4175	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	178	COG1134	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	831	COG4178	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	143	cd03299	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	163	cd03297	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	146	COG4148	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	506	COG4987	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	219	COG1119	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	758	COG4608	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	189	COG1136	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	153	cd03236	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	423	cd03257	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	143	COG3840	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	156	COG4161	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	173	COG0410	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	151	cd03296	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	165	cd03258	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	476	COG0444	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	156	COG1125	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	181	COG1135	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	152	COG2884	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	487	COG4988	NULL
5244	9961252	Disease	p.Ala546Asp	171060.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	244	cd03271	NULL
5244	4505771	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	437	COG2274	NULL
5244	4505771	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	78	COG4172	NULL
5244	4505771	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	344	pfam00664	NULL
5244	4505771	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	11	cd03288	NULL
5244	4505771	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	255_G	COG4615	NULL
5244	4505771	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	338	COG1123	NULL
5244	4505771	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	189	COG5265	NULL
5244	4505771	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	779	COG1132	NULL
5244	4505771	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	500	COG4178	NULL
5244	4505771	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	277	COG4987	NULL
5244	4505771	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	248	COG4988	NULL
5244	126302568	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	437	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	78	COG4172	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	344	pfam00664	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	11	cd03288	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	255_G	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	338	COG1123	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	189	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	287	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	779	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	500	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	277	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	248	COG4988	9961250,NP_061337
5244	9961252	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	437	COG2274	NULL
5244	9961252	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	78	COG4172	NULL
5244	9961252	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	344	pfam00664	NULL
5244	9961252	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	11	cd03288	NULL
5244	9961252	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	255_G	COG4615	NULL
5244	9961252	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	338	COG1123	NULL
5244	9961252	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	189	COG5265	NULL
5244	9961252	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	779	COG1132	NULL
5244	9961252	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	500	COG4178	NULL
5244	9961252	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	277	COG4987	NULL
5244	9961252	Disease	p.Ser320Phe	171060.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1||CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	248	COG4988	NULL
5244	4505771	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	293	COG2274	NULL
5244	4505771	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	173	pfam00664	NULL
5244	4505771	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	110	COG4615	NULL
5244	4505771	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	20	COG1123	NULL
5244	4505771	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	39_G	COG5265	NULL
5244	4505771	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	390	COG1132	NULL
5244	4505771	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	308	COG4178	NULL
5244	4505771	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	130	COG4987	NULL
5244	4505771	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	102	COG4988	NULL
5244	126302568	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	293	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	173	pfam00664	9961250,NP_061337
5244	126302568	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	110	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	20	COG1123	9961250,NP_061337
5244	126302568	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	39_G	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	153	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	390	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	308	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	130	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	102	COG4988	9961250,NP_061337
5244	9961252	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	293	COG2274	NULL
5244	9961252	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	173	pfam00664	NULL
5244	9961252	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	110	COG4615	NULL
5244	9961252	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	20	COG1123	NULL
5244	9961252	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	39_G	COG5265	NULL
5244	9961252	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	390	COG1132	NULL
5244	9961252	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	308	COG4178	NULL
5244	9961252	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	130	COG4987	NULL
5244	9961252	Disease	p.Thr175Val	171060.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	102	COG4988	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	140	COG4107	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	177	COG1131	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	142_G	COG4598	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	194	COG0411	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	389	COG5265	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	125	COG4559	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	494	COG4618	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	201	cd03288	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	246	COG1124	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	152	COG1116	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	147	COG3638	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	163	cd03369	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	209	cd03213	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	478	COG1122	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	460	COG4988	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	123	cd03299	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	159_G	COG1117	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	666	COG2274	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	149	COG1126	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	195	COG1120	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	130	COG4136	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	171	cd03244	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	128	cd03254	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	163	cd03234	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	129	cd03245	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	142	cd03289	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	147_G	COG4674	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	1256	cd00267	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	173	cd03225	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	139	cd03235	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	199_G	cd03214	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	154	cd03226	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	125	cd03231	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	479	COG4987	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	1354	COG1132	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	121	cd03256	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	138	cd03290	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	182	cd03229	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	211	cd03250	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	287	cd03228	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	125	cd03221	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	126	cd03252	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	145	cd03253	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	248	cd03249	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	145	cd03251	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	164	cd03216	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	190	cd03263	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	128	COG4555	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	125	cd03295	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	139	cd03261	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	157	cd03255	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	213	cd03223	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	165	cd03230	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	149	cd03262	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	128	cd03246	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	128	cd03292	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	153	cd03260	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	127	COG4619	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	192	cd03301	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	165	cd03259	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	120	cd03269	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	157	cd03220	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	126	cd03298	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	131	cd03247	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	174	cd03293	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	193	COG1119	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	146	cd03291	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	150	cd03248	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	287	cd03215	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	217	pfam00005	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	147	cd03297	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	234	smart00382	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	156_G	COG1127	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	165	COG1136	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	127	COG3840	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	130_G	COG4161	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	135	COG1101	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	127_G	cd03296	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	142	cd03258	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	396	cd03257	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	123_G	COG2884	NULL
5244	4505771	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	140	COG4167	NULL
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	133	COG4107	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	170	COG1131	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	137	COG4598	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	382	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	194	cd03288	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	156	cd03369	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	468	COG1122	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	238	COG1124	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	139	cd03213	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	145	COG1116	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	453	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	159	COG1117	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	659	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	121	cd03254	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	145	cd03244	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	187	COG1120	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	122	cd03245	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	135	cd03289	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	141	COG4674	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	1249	cd00267	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	166	cd03225	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	193	cd03214	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	130	cd03235	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	147	cd03226	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	142	COG4778	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	472	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	1346	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	151_G	cd03260	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	204	cd03250	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	175	cd03229	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	280	cd03228	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	131	cd03290	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	118	cd03221	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	122	COG4555	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	138	cd03251	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	138	cd03253	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	119	cd03252	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	241	cd03249	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	122	COG4619	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	157	cd03216	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	166	cd03293	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	124	cd03247	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	119	cd03298	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	156	cd03259	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	185	cd03301	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	122	cd03292	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	148	cd03255	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	121	cd03246	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	158	cd03230	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	141	cd03262	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	206	cd03223	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	130	cd03261	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	143	cd03248	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	209	pfam00005	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	140	cd03297	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	227	smart00382	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	157	COG1136	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	136	cd03258	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	117	COG2884	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	299	cd03257	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	122	cd03296	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	120	COG3840	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	126_G	COG4161	9961250,NP_061337
5244	126302568	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	130	COG1101	9961250,NP_061337
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	205	COG1127	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	436	COG5265	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	210	cd03369	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	188	COG1116	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	283	COG1124	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	190	COG3638	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	520	COG1122	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	257	cd03213	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	541	COG4618	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	210	COG1136	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	161_G	COG3840	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	176	COG4161	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	182	COG1101	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	184	COG4167	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	185	cd03258	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	172	COG2884	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	171	cd03296	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	443	cd03257	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	177	COG4559	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	508	COG4988	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	163	cd03299	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	183	cd03297	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	713	COG2274	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	329	smart00382	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	207	COG1117	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	190	cd03226	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	1321	cd00267	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	209	cd03225	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	182	cd03235	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	247	cd03214	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	187	COG4598	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	162	cd03231	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	186	cd03256	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	173	cd03252	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	192	cd03253	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	300	cd03249	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	210	cd03216	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	171	COG4619	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	233	cd03263	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	192	cd03251	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	210	cd03293	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	185	cd03290	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	218	cd03229	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	285	cd03250	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	340	cd03228	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	285	cd03221	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	200	cd03260	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	183	cd03261	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	203	cd03255	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	316	cd03223	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	203	cd03230	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	189	cd03262	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	175	cd03246	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	171	cd03292	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	171	COG4555	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	170	cd03295	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	232	cd03301	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	202	cd03259	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	163	cd03269	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	201	cd03220	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	166	cd03298	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	178	cd03247	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	198	cd03248	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	175	cd03254	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	220	cd03244	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	169_G	COG4136	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	193	COG1126	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	232	COG1120	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	189	cd03289	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	217	cd03234	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	176	cd03245	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	338	cd03215	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	186	COG4107	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	233	COG1131	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	1420	COG1132	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	248	cd03288	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	193	cd03291	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	194	COG4674	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	239	COG1119	NULL
5244	9961252	Disease	p.Pro1161Ser	171060.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	GALLBLADDER DISEASE 1	OMIM	237	COG0411	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	14	COG1121	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	cd03233	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	cd03213	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03234	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG1122	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	cd03232	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG1124	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	16	cd03369	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG0396	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG1116	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG3638	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG3839	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG0488	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	549	COG2274	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	18	COG4181	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	22	COG3842	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	29	COG1127	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	25	COG1129	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	292	COG4172	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	87	cd03288	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	342	COG4615	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03245	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG1120	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03254	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03244	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG1118	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	14	COG4525	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG1126	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG4133	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG4152	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03289	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	9	cd03214	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	9	cd03235	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	9	cd00267	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	9	cd03225	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	9	cd03226	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	17	COG1117	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	17	COG1137	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	21	cd03248	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	465	COG1123	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03268	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03247	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03259	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03238	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03298	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03301	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	cd03266	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03264	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03224	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03222	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	COG4604	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03228	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03229	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03290	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03250	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03221	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03293	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03260	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03300	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03251	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03294	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	COG4555	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03261	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12_G	COG4138	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03253	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03252	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03249	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03263	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11_G	COG4619	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03267	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03255	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03246	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03262	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03230	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03223	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03292	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03219	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03218	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	8_G	cd03217	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03256	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03216	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03295	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	44	cd03291	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	17	COG4107	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	16	COG4598	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	31	COG4586	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	275	COG5265	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	1071	COG1132	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	16	COG4778	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	14	COG3845	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	14	COG1131	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	22	COG4175	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	51	COG1134	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	612	COG4178	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	363	COG4987	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	62	COG1119	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	14	COG4608	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	19	COG1136	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03236	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	cd03257	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	COG3840	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG4161	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG0410	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03296	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	cd03258	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	COG0444	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	COG1125	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG1135	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	COG2884	NULL
5244	4505771	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	343	COG4988	NULL
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	14	COG1121	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	cd03233	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	cd03213	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03234	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG1122	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	cd03232	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG1124	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	16	cd03369	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG0396	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG1116	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG3638	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG3839	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG0488	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	549	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	18	COG4181	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	22	COG3842	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	29	COG1127	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	25	COG1129	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	292	COG4172	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	87	cd03288	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	342	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03245	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG1120	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03254	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03244	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG1118	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	14	COG4525	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG1126	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG4133	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG4152	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG4136	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03289	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	9	cd03214	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	9	cd03235	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	9	cd00267	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	9	cd03225	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	9	cd03226	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	17	COG1117	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	17	COG1137	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	21	cd03248	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	465	COG1123	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03268	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03247	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03220	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03259	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03238	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03269	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03298	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03301	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	cd03266	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03264	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03224	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03228	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03229	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03290	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03250	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03221	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03293	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03222	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	COG4604	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03260	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03300	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03251	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03294	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	COG4555	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03261	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12_G	COG4138	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03253	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03252	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03249	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03263	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11_G	COG4619	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03267	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03219	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03218	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03255	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03246	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03262	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03230	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03223	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	14	cd03215	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03292	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	8_G	cd03217	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03256	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03216	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03295	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	44	cd03291	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	17	COG4107	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	16	COG4598	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	31	COG4586	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	275	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	375	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	1071	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	16	COG4167	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	15	COG0411	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	14	COG3845	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	14	COG1131	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	22	COG4175	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	51	COG1134	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	612	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	363	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	62	COG1119	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	14	COG4608	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	19	COG1136	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03236	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	cd03257	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	COG3840	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG4161	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG0410	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03296	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	cd03258	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	9_G	COG4559	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	COG0444	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	COG1125	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG1135	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	COG2884	9961250,NP_061337
5244	126302568	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	343	COG4988	9961250,NP_061337
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	14	COG1121	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	cd03233	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	cd03213	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03234	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG1122	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	cd03232	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG1124	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	16	cd03369	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG0396	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG1116	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG3638	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG3839	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG0488	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	549	COG2274	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	18	COG4181	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	22	COG3842	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	29	COG1127	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	25	COG1129	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	292	COG4172	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	87	cd03288	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	342	COG4615	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03245	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG1120	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03254	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03244	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG1118	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	14	COG4525	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG1126	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG4133	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG4152	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03289	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	9	cd03214	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	9	cd03235	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	9	cd00267	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	9	cd03225	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	9	cd03226	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	17	COG1117	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	17	COG1137	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	21	cd03248	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	465	COG1123	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03268	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03247	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03259	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03238	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03298	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03301	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	cd03266	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03264	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03224	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03228	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03229	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03290	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03250	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03221	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03293	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03222	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	COG4604	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03260	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03300	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03251	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03294	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	COG4555	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03261	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12_G	COG4138	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03253	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03252	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03249	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03263	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11_G	COG4619	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03267	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03255	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03246	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03262	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03230	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03223	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03292	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03219	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03218	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03216	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	8_G	cd03217	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03256	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03295	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	44	cd03291	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	17	COG4107	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	16	COG4598	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	31	COG4586	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	275	COG5265	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	1071	COG1132	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	16	COG4778	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	14	COG3845	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	14	COG1131	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	22	COG4175	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	51	COG1134	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	612	COG4178	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	363	COG4987	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	62	COG1119	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	14	COG4608	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	19	COG1136	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	10	cd03236	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	cd03257	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	COG3840	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG4161	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	13	COG0410	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	cd03296	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	cd03258	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	COG0444	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	COG1125	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	12	COG1135	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	11	COG2884	NULL
5244	9961252	Disease	p.Tyr403His	171060.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3	OMIM	343	COG4988	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	214	COG1121	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	254	cd03233	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	305	cd03213	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	311	cd03234	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	546	COG1122	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	231	cd03232	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	309	COG1124	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	234	cd03369	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	279	COG0396	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	235	COG1116	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	216	COG3638	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	483	COG3839	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	271	COG0488	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	738	COG2274	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	209	COG4181	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	432	COG3842	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	229	COG1127	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	252	COG1129	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	197	cd03265	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	495	COG4172	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	179_G	cd03237	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	272	cd03288	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	612	smart00382	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	523	COG4615	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	201	cd03245	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	258	COG1120	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	199	cd03254	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	245	cd03244	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	221	COG1118	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	199	COG4525	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	219	COG1126	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	197	COG4133	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	189	COG4152	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	213	cd03289	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	273	cd03214	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	208	cd03235	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	1356	cd00267	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	237	cd03225	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	218	cd03226	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	233	COG1117	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	219	COG1137	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	269	cd03248	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	738	COG1123	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	196	cd03268	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	202	cd03247	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	229	cd03259	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	586	cd03238	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	188	cd03298	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	258	cd03301	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	208	cd03266	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	215	cd03264	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	217	cd03224	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	199	cd03222	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	195	COG4604	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	374	cd03228	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	244	cd03229	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	212	cd03290	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	315	cd03250	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	312	cd03221	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	239	cd03293	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	229	cd03260	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	194	cd03300	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	216	cd03251	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	226	cd03294	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	196	COG4555	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	217	cd03261	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	197	COG4138	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	223	cd03253	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	197	cd03252	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	328	cd03249	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	282	cd03263	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	199	COG4619	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	226	cd03267	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	230	cd03255	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	200	cd03246	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	211	cd03262	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	231	cd03230	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	340	cd03223	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	196	cd03292	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	237	cd03219	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	214	cd03218	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	225	cd03217	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	216	cd03256	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	236	cd03216	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	202	cd03295	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	218	cd03291	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	212	COG4107	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	212	COG4598	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	239	COG4586	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	462	COG5265	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	1453	COG1132	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	221	COG4778	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	218	COG3845	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	260	COG1131	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	234	COG4175	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	224	COG1134	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	888	COG4178	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	189	cd03299	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	209	cd03297	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	202	COG4148	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	553	COG4987	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	266	COG1119	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	804	COG4608	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	236	COG1136	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	200	cd03236	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	470	cd03257	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	189	COG3840	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	201	COG4161	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	220	COG0410	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	197	cd03296	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	211	cd03258	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	523	COG0444	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	208	COG1125	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	227	COG1135	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	197	COG2884	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	533	COG4988	NULL
5244	4505771	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	294	cd03271	NULL
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	214	COG1121	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	254	cd03233	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	305	cd03213	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	311	cd03234	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	546	COG1122	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	231	cd03232	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	309	COG1124	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	234	cd03369	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	279	COG0396	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	235	COG1116	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	216	COG3638	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	483	COG3839	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	271	COG0488	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	738	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	209	COG4181	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	432	COG3842	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	229	COG1127	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	252	COG1129	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	197	cd03265	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	495	COG4172	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	179_G	cd03237	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	272	cd03288	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	612	smart00382	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	523	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	201	cd03245	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	258	COG1120	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	199	cd03254	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	245	cd03244	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	221	COG1118	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	199	COG4525	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	219	COG1126	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	197	COG4133	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	189	COG4152	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	196	COG4136	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	213	cd03289	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	273	cd03214	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	208	cd03235	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	1356	cd00267	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	237	cd03225	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	218	cd03226	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	233	COG1117	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	219	COG1137	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	269	cd03248	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	738	COG1123	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	196	cd03268	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	202	cd03247	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	227	cd03220	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	229	cd03259	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	586	cd03238	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	188	cd03269	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	188	cd03298	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	258	cd03301	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	208	cd03266	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	215	cd03264	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	217	cd03224	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	374	cd03228	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	244	cd03229	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	212	cd03290	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	315	cd03250	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	312	cd03221	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	239	cd03293	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	199	cd03222	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	195	COG4604	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	229	cd03260	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	194	cd03300	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	216	cd03251	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	226	cd03294	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	196	COG4555	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	217	cd03261	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	197	COG4138	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	223	cd03253	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	197	cd03252	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	328	cd03249	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	282	cd03263	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	199	COG4619	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	226	cd03267	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	237	cd03219	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	214	cd03218	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	230	cd03255	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	200	cd03246	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	211	cd03262	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	231	cd03230	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	340	cd03223	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	364	cd03215	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	196	cd03292	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	225	cd03217	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	216	cd03256	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	236	cd03216	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	202	cd03295	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	218	cd03291	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	212	COG4107	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	212	COG4598	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	239	COG4586	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	462	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	566	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	1453	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	209	COG4167	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	264	COG0411	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	218	COG3845	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	260	COG1131	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	234	COG4175	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	224	COG1134	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	189	cd03299	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	209	cd03297	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	888	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	202	COG4148	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	553	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	266	COG1119	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	804	COG4608	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	236	COG1136	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	200	cd03236	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	470	cd03257	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	189	COG3840	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	201	COG4161	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	220	COG0410	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	197	cd03296	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	211	cd03258	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	203	COG4559	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	523	COG0444	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	208	COG1125	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	227	COG1135	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	197	COG2884	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	533	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	294	cd03271	9961250,NP_061337
5244	126302568	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	188	cd03231	9961250,NP_061337
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	214	COG1121	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	254	cd03233	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	305	cd03213	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	311	cd03234	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	546	COG1122	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	231	cd03232	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	309	COG1124	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	234	cd03369	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	279	COG0396	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	235	COG1116	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	216	COG3638	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	483	COG3839	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	271	COG0488	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	738	COG2274	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	209	COG4181	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	432	COG3842	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	229	COG1127	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	252	COG1129	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	197	cd03265	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	495	COG4172	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	179_G	cd03237	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	272	cd03288	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	612	smart00382	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	523	COG4615	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	201	cd03245	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	258	COG1120	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	199	cd03254	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	245	cd03244	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	221	COG1118	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	199	COG4525	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	219	COG1126	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	197	COG4133	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	189	COG4152	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	213	cd03289	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	273	cd03214	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	208	cd03235	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	1356	cd00267	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	237	cd03225	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	218	cd03226	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	233	COG1117	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	219	COG1137	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	269	cd03248	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	738	COG1123	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	196	cd03268	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	202	cd03247	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	229	cd03259	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	586	cd03238	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	188	cd03298	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	258	cd03301	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	208	cd03266	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	215	cd03264	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	217	cd03224	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	374	cd03228	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	244	cd03229	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	212	cd03290	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	315	cd03250	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	312	cd03221	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	239	cd03293	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	199	cd03222	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	195	COG4604	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	229	cd03260	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	194	cd03300	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	216	cd03251	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	226	cd03294	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	196	COG4555	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	217	cd03261	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	197	COG4138	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	223	cd03253	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	197	cd03252	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	328	cd03249	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	282	cd03263	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	199	COG4619	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	226	cd03267	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	230	cd03255	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	200	cd03246	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	211	cd03262	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	231	cd03230	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	340	cd03223	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	196	cd03292	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	237	cd03219	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	214	cd03218	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	236	cd03216	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	225	cd03217	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	216	cd03256	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	202	cd03295	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	218	cd03291	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	212	COG4107	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	212	COG4598	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	239	COG4586	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	462	COG5265	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	1453	COG1132	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	221	COG4778	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	218	COG3845	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	260	COG1131	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	234	COG4175	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	224	COG1134	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	888	COG4178	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	189	cd03299	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	209	cd03297	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	202	COG4148	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	553	COG4987	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	266	COG1119	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	804	COG4608	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	236	COG1136	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	200	cd03236	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	470	cd03257	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	189	COG3840	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	201	COG4161	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	220	COG0410	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	197	cd03296	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	211	cd03258	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	523	COG0444	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	208	COG1125	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	227	COG1135	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	197	COG2884	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	533	COG4988	NULL
5244	9961252	Disease	p.Arg590Gln	171060.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171060	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY	OMIM	294	cd03271	NULL
5243	238054374	Disease	p.Gly185Val	171050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171050	COLCHICINE RESISTANCE	OMIM	114	COG4988	42741659,NP_000918
5243	238054374	Disease	p.Gly185Val	171050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171050	COLCHICINE RESISTANCE	OMIM	340_G	COG4178	42741659,NP_000918
5243	238054374	Disease	p.Gly185Val	171050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171050	COLCHICINE RESISTANCE	OMIM	51	COG5265	42741659,NP_000918
5243	238054374	Disease	p.Gly185Val	171050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171050	COLCHICINE RESISTANCE	OMIM	403	COG1132	42741659,NP_000918
5243	238054374	Disease	p.Gly185Val	171050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171050	COLCHICINE RESISTANCE	OMIM	142	COG4987	42741659,NP_000918
5243	238054374	Disease	p.Gly185Val	171050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171050	COLCHICINE RESISTANCE	OMIM	185	pfam00664	42741659,NP_000918
5243	238054374	Disease	p.Gly185Val	171050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171050	COLCHICINE RESISTANCE	OMIM	304	COG2274	42741659,NP_000918
5243	238054374	Disease	p.Ala893Ser	171050.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171050	INFLAMMATORY BOWEL DISEASE 13, SUSCEPTIBILITY TO	OMIM	179	COG4988	42741659,NP_000918
5243	238054374	Disease	p.Ala893Ser	171050.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171050	INFLAMMATORY BOWEL DISEASE 13, SUSCEPTIBILITY TO	OMIM	225	COG4618	42741659,NP_000918
5243	238054374	Disease	p.Ala893Ser	171050.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171050	INFLAMMATORY BOWEL DISEASE 13, SUSCEPTIBILITY TO	OMIM	369	COG2274	42741659,NP_000918
5243	238054374	Disease	p.Ala893Ser	171050.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171050	INFLAMMATORY BOWEL DISEASE 13, SUSCEPTIBILITY TO	OMIM	121	COG5265	42741659,NP_000918
5243	238054374	Disease	p.Ala893Ser	171050.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171050	INFLAMMATORY BOWEL DISEASE 13, SUSCEPTIBILITY TO	OMIM	268	pfam00664	42741659,NP_000918
5243	238054374	Disease	p.Ala893Ser	171050.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171050	INFLAMMATORY BOWEL DISEASE 13, SUSCEPTIBILITY TO	OMIM	184_G	COG4615	42741659,NP_000918
5243	238054374	Disease	p.Ala893Ser	171050.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171050	INFLAMMATORY BOWEL DISEASE 13, SUSCEPTIBILITY TO	OMIM	211	COG4987	42741659,NP_000918
5243	238054374	Disease	p.Ala893Ser	171050.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171050	INFLAMMATORY BOWEL DISEASE 13, SUSCEPTIBILITY TO	OMIM	637	COG1132	42741659,NP_000918
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	65	cd07167	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	63	cd06957	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	62	cd07165	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	65	cd07161	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	65	cd06960	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	63	cd07158	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	64	cd07154	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	64	cd07156	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	80	cd06916	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	70	cd07179	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	62	cd06963	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	62	cd06958	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	64	cd07162	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	62	cd07164	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	62	cd07155	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	64	cd06956	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	64	cd06966	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	71	cd07168	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	65	cd06962	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	65	cd06969	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	68	pfam00105	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	68	cd06964	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	68	cd07170	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	84	cd07160	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	69	cd06968	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	70	cd06955	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	70	cd07169	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	76	cd07163	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	71	cd06970	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	67	cd06967	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	67	cd07173	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	68	cd07171	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	68	cd07166	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	75	cd07172	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	63	cd06959	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	69	cd06961	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	130	smart00399	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	67	cd06965	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	74	cd07157	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	65	cd07167	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	63	cd06957	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	62	cd07165	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	65	cd07161	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	65	cd06960	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	63	cd07158	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	64	cd07154	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	64	cd07156	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	80	cd06916	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	70	cd07179	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	62	cd06963	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	62	cd06958	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	64	cd07162	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	62	cd07164	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	62	cd07155	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	64	cd06956	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	64	cd06966	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	71	cd07168	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	65	cd06962	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	65	cd06969	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	68	pfam00105	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	68	cd06964	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	68	cd07170	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	84	cd07160	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	69	cd06968	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	70	cd06955	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	70	cd07169	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	76	cd07163	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	71	cd06970	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	67	cd06967	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	67	cd07173	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	68	cd07171	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	68	cd07166	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	75	cd07172	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	63	cd06959	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	69	cd06961	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	130	smart00399	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	67	cd06965	50348666,NP_001001928|7549811,NP_005027
5465	3041727	Disease	p.Leu162Val	170998.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170998	HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO	OMIM	74	cd07157	50348666,NP_001001928|7549811,NP_005027
5825	169881286	Disease	p.Gly17Asp	170995.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170995	ZELLWEGER SYNDROME 2	OMIM	No Domain	N/A	NULL
5825	130358	Disease	p.Gly17Asp	170995.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170995	ZELLWEGER SYNDROME 2	OMIM	No Domain	N/A	4506341,NP_002849
5828	121114290	Disease	p.Glu55Lys	170993.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170993	REFSUM DISEASE, INFANTILE FORM	OMIM	66	pfam04757	NULL
5828	289063466	Disease	p.Glu55Lys	170993.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170993	REFSUM DISEASE, INFANTILE FORM	OMIM	66	pfam04757	NULL
5828	289063469	Disease	p.Glu55Lys	170993.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170993	REFSUM DISEASE, INFANTILE FORM	OMIM	66	pfam04757	NULL
5828	4506343	Disease	p.Glu55Lys	170993.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170993	REFSUM DISEASE, INFANTILE FORM	OMIM	66	pfam04757	NULL
5961	118572596	Disease	p.Asp141Tyr	170710.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170710	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	22	cd03166	NULL
5961	118572596	Disease	p.Asp141Tyr	170710.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170710	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	23	cd03165	NULL
5961	118572596	Disease	p.Asp141Tyr	170710.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170710	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	22	cd03155	NULL
5961	118572596	Disease	p.Asp141Tyr	170710.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170710	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	22	cd03127	NULL
5961	118572596	Disease	p.Asp141Tyr	170710.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170710	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	22	cd03162	NULL
5961	118572596	Disease	p.Asp141Tyr	170710.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170710	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	23	cd03158	NULL
5961	118572596	Disease	p.Asp141Tyr	170710.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170710	AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO	OMIM	279	pfam00335	NULL
55893	84028224	Disease	p.Arg225Trp	170280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170280	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2	OMIM	No Domain	N/A	8923887,NP_061130
55893	84028224	Disease	p.Gly429Glu	170280.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170280	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2	OMIM	No Domain	N/A	8923887,NP_061130
55893	84028224	Disease	p.Pro345Leu	170280.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170280	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2	OMIM	No Domain	N/A	8923887,NP_061130
55893	84028224	Disease	p.Cys279Tyr	170280.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170280	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2	OMIM	No Domain	N/A	8923887,NP_061130
55893	84028224	Disease	p.Val183Gly	170280.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170280	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2	OMIM	No Domain	N/A	8923887,NP_061130
55893	84028224	Disease	p.Thr435Met	170280.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170280	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2	OMIM	No Domain	N/A	8923887,NP_061130
55893	84028224	Disease	p.Ser388Ile	170280.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170280	APLASTIC ANEMIA	OMIM	No Domain	N/A	8923887,NP_061130
55893	84028224	Disease	p.Arg4His	170280.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170280	APLASTIC ANEMIA	OMIM	No Domain	N/A	8923887,NP_061130
266629	29428056	Disease	p.Ile379Val	170261.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170261	PEPTIDE TRANSPORTER PSF2 POLYMORPHISM	OMIM	No Domain	N/A	27923592,NP_777635
266629	29428056	Disease	p.Ala665Thr	170261.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170261	PEPTIDE TRANSPORTER PSF2 POLYMORPHISM	OMIM	No Domain	N/A	27923592,NP_777635
23541	209364516	Disease	p.Ile333Val	170260.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170260	PEPTIDE TRANSPORTER PSF1 POLYMORPHISM	OMIM	No Domain	N/A	NULL
23541	21542232	Disease	p.Ile333Val	170260.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170260	PEPTIDE TRANSPORTER PSF1 POLYMORPHISM	OMIM	No Domain	N/A	7110715,NP_036561
23541	209364516	Disease	p.Asp637Gly	170260.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170260	PEPTIDE TRANSPORTER PSF1 POLYMORPHISM	OMIM	No Domain	N/A	NULL
23541	21542232	Disease	p.Asp637Gly	170260.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170260	PEPTIDE TRANSPORTER PSF1 POLYMORPHISM	OMIM	No Domain	N/A	7110715,NP_036561
23541	209364516	Disease	p.Arg659Gln	170260.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170260	TAP1 DEFICIENCY, SOMATIC	OMIM	No Domain	N/A	NULL
23541	21542232	Disease	p.Arg659Gln	170260.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=170260	TAP1 DEFICIENCY, SOMATIC	OMIM	No Domain	N/A	7110715,NP_036561
5544	117306167	Disease	p.Arg15Cys	168840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168840	PRB3S(CYS)	OMIM	No Domain	N/A	NULL
5444	308153572	Disease	p.Gln192Arg	168820.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168820	PON1 ENZYME ACTIVITY, VARIATION IN||CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO||CORONARY ARTERY SPASM 2, SUSCEPTIBILITY TO	OMIM	27	pfam03088	19923106,NP_000437
5444	308153572	Disease	p.Gln192Arg	168820.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168820	PON1 ENZYME ACTIVITY, VARIATION IN||CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO||CORONARY ARTERY SPASM 2, SUSCEPTIBILITY TO	OMIM	25	pfam01731	19923106,NP_000437
5444	308153572	Disease	p.Leu55Met	168820.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168820	PON1 ENZYME ACTIVITY, VARIATION IN||CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5	OMIM	No Domain	N/A	19923106,NP_000437
5744	39995089	Disease	p.Leu60Pro	168470.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168470	BRACHYDACTYLY, TYPE E2	OMIM	26	smart00087	NULL
5744	39995089	Disease	p.Leu60Pro	168470.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168470	BRACHYDACTYLY, TYPE E2	OMIM	61	pfam01279	NULL
5744	4506269	Disease	p.Leu60Pro	168470.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168470	BRACHYDACTYLY, TYPE E2	OMIM	26	smart00087	NULL
5744	4506269	Disease	p.Leu60Pro	168470.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168470	BRACHYDACTYLY, TYPE E2	OMIM	61	pfam01279	NULL
5744	131542	Disease	p.Leu60Pro	168470.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168470	BRACHYDACTYLY, TYPE E2	OMIM	26	smart00087	39995093,NP_945317|39995091,NP_945316
5744	131542	Disease	p.Leu60Pro	168470.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168470	BRACHYDACTYLY, TYPE E2	OMIM	61	pfam01279	39995093,NP_945317|39995091,NP_945316
5744	131542	Disease	p.Leu60Pro	168470.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168470	BRACHYDACTYLY, TYPE E2	OMIM	26	smart00087	39995093,NP_945317|39995091,NP_945316
5744	131542	Disease	p.Leu60Pro	168470.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168470	BRACHYDACTYLY, TYPE E2	OMIM	61	pfam01279	39995093,NP_945317|39995091,NP_945316
5744	39995089	Disease	p.Leu44Pro	168470.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168470	BRACHYDACTYLY, TYPE E2	OMIM	10	smart00087	NULL
5744	39995089	Disease	p.Leu44Pro	168470.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168470	BRACHYDACTYLY, TYPE E2	OMIM	45	pfam01279	NULL
5744	4506269	Disease	p.Leu44Pro	168470.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168470	BRACHYDACTYLY, TYPE E2	OMIM	10	smart00087	NULL
5744	4506269	Disease	p.Leu44Pro	168470.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168470	BRACHYDACTYLY, TYPE E2	OMIM	45	pfam01279	NULL
5744	131542	Disease	p.Leu44Pro	168470.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168470	BRACHYDACTYLY, TYPE E2	OMIM	10	smart00087	39995093,NP_945317|39995091,NP_945316
5744	131542	Disease	p.Leu44Pro	168470.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168470	BRACHYDACTYLY, TYPE E2	OMIM	45	pfam01279	39995093,NP_945317|39995091,NP_945316
5744	131542	Disease	p.Leu44Pro	168470.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168470	BRACHYDACTYLY, TYPE E2	OMIM	10	smart00087	39995093,NP_945317|39995091,NP_945316
5744	131542	Disease	p.Leu44Pro	168470.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168470	BRACHYDACTYLY, TYPE E2	OMIM	45	pfam01279	39995093,NP_945317|39995091,NP_945316
5745	417555	Disease	p.His223Arg	168468.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168468	METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE	OMIM	43	pfam00002	296080761,NP_001171673|4506271,NP_000307
5745	417555	Disease	p.His223Arg	168468.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168468	METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE	OMIM	43	pfam00002	296080761,NP_001171673|4506271,NP_000307
5745	417555	Disease	p.Thr410Pro	168468.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168468	METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE	OMIM	321	pfam00002	296080761,NP_001171673|4506271,NP_000307
5745	417555	Disease	p.Thr410Pro	168468.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168468	METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE	OMIM	321	pfam00002	296080761,NP_001171673|4506271,NP_000307
5745	417555	Disease	p.Pro132Leu	168468.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168468	CHONDRODYSPLASIA, BLOMSTRAND TYPE	OMIM	31	smart00008	296080761,NP_001171673|4506271,NP_000307
5745	417555	Disease	p.Pro132Leu	168468.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168468	CHONDRODYSPLASIA, BLOMSTRAND TYPE	OMIM	29	pfam02793	296080761,NP_001171673|4506271,NP_000307
5745	417555	Disease	p.Pro132Leu	168468.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168468	CHONDRODYSPLASIA, BLOMSTRAND TYPE	OMIM	31	smart00008	296080761,NP_001171673|4506271,NP_000307
5745	417555	Disease	p.Pro132Leu	168468.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168468	CHONDRODYSPLASIA, BLOMSTRAND TYPE	OMIM	29	pfam02793	296080761,NP_001171673|4506271,NP_000307
5745	417555	Disease	p.Ile458Arg	168468.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168468	METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE	OMIM	No Domain	N/A	296080761,NP_001171673|4506271,NP_000307
5745	417555	Disease	p.Ile458Arg	168468.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168468	METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE	OMIM	No Domain	N/A	296080761,NP_001171673|4506271,NP_000307
79742	193804856	Disease	p.Ile458Arg	168468.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168468	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Ile458Arg	168468.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168468	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
5745	417555	Disease	p.Thr410Arg	168468.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168468	METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE	OMIM	321	pfam00002	296080761,NP_001171673|4506271,NP_000307
5745	417555	Disease	p.Thr410Arg	168468.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168468	METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE	OMIM	321	pfam00002	296080761,NP_001171673|4506271,NP_000307
5741	131547	Disease	p.Cys18Arg	168450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168450	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	18	pfam01279	4506267,NP_000306
5741	131547	Disease	p.Ser23Pro	168450.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168450	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	OMIM	23	pfam01279	4506267,NP_000306
6690	124856	Disease	p.Asn34Ser	167790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167790	PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO||TROPICAL CALCIFIC PANCREATITIS||FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO	OMIM	3	pfam00050	45505132,NP_003113
6690	124856	Disease	p.Asn34Ser	167790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167790	PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO||TROPICAL CALCIFIC PANCREATITIS||FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO	OMIM	5	smart00280	45505132,NP_003113
6690	124856	Disease	p.Met1Thr	167790.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167790	PANCREATITIS, CHRONIC	OMIM	No Domain	N/A	45505132,NP_003113
6690	124856	Disease	p.Leu14Pro	167790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167790	PANCREATITIS, CHRONIC	OMIM	No Domain	N/A	45505132,NP_003113
6690	124856	Disease	p.Leu14Arg	167790.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167790	PANCREATITIS, CHRONIC	OMIM	No Domain	N/A	45505132,NP_003113
5083	8247954	Disease	p.Lys91Glu	167416.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	89	pfam00292	7242167,NP_006185
5083	8247954	Disease	p.Lys91Glu	167416.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	90	smart00351	7242167,NP_006185
5083	8247954	Disease	p.Lys91Glu	167416.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	89	cd00131	7242167,NP_006185
5083	8247954	Disease	p.Leu21Pro	167416.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	18	pfam00292	7242167,NP_006185
5083	8247954	Disease	p.Leu21Pro	167416.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	18	smart00351	7242167,NP_006185
5083	8247954	Disease	p.Leu21Pro	167416.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	18	cd00131	7242167,NP_006185
5083	8247954	Disease	p.Arg28Pro	167416.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	25	pfam00292	7242167,NP_006185
5083	8247954	Disease	p.Arg28Pro	167416.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	25	smart00351	7242167,NP_006185
5083	8247954	Disease	p.Arg28Pro	167416.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	25	cd00131	7242167,NP_006185
5083	8247954	Disease	p.Arg26Trp	167416.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	23	pfam00292	7242167,NP_006185
5083	8247954	Disease	p.Arg26Trp	167416.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	23	smart00351	7242167,NP_006185
5083	8247954	Disease	p.Arg26Trp	167416.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	23	cd00131	7242167,NP_006185
5083	8247954	Disease	p.Ile87Phe	167416.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	85	pfam00292	7242167,NP_006185
5083	8247954	Disease	p.Ile87Phe	167416.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	86	smart00351	7242167,NP_006185
5083	8247954	Disease	p.Ile87Phe	167416.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	85	cd00131	7242167,NP_006185
5083	8247954	Disease	p.Gly51Ser	167416.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	48	pfam00292	7242167,NP_006185
5083	8247954	Disease	p.Gly51Ser	167416.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	48	smart00351	7242167,NP_006185
5083	8247954	Disease	p.Gly51Ser	167416.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	48	cd00131	7242167,NP_006185
5083	8247954	Disease	p.Arg47Trp	167416.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	44	pfam00292	7242167,NP_006185
5083	8247954	Disease	p.Arg47Trp	167416.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	44	smart00351	7242167,NP_006185
5083	8247954	Disease	p.Arg47Trp	167416.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167416	TOOTH AGENESIS, SELECTIVE, 3	OMIM	44	cd00131	7242167,NP_006185
7849	7669542	Disease	p.Phe329Leu	167415.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	PAX8 POLYMORPHISM	OMIM	No Domain	N/A	NULL
7849	215273928	Disease	p.Phe329Leu	167415.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	PAX8 POLYMORPHISM	OMIM	No Domain	N/A	5803117,NP_003457
7849	7524363	Disease	p.Phe329Leu	167415.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	PAX8 POLYMORPHISM	OMIM	No Domain	N/A	NULL
7849	7524365	Disease	p.Phe329Leu	167415.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	PAX8 POLYMORPHISM	OMIM	No Domain	N/A	NULL
7849	7669542	Disease	p.Arg31His	167415.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	23	cd00131	NULL
7849	7669542	Disease	p.Arg31His	167415.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	23	smart00351	NULL
7849	7669542	Disease	p.Arg31His	167415.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	23	pfam00292	NULL
7849	215273928	Disease	p.Arg31His	167415.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	23	cd00131	5803117,NP_003457
7849	215273928	Disease	p.Arg31His	167415.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	23	smart00351	5803117,NP_003457
7849	215273928	Disease	p.Arg31His	167415.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	23	pfam00292	5803117,NP_003457
7849	7524363	Disease	p.Arg31His	167415.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	23	cd00131	NULL
7849	7524363	Disease	p.Arg31His	167415.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	23	smart00351	NULL
7849	7524363	Disease	p.Arg31His	167415.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	23	pfam00292	NULL
7849	7524365	Disease	p.Arg31His	167415.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	23	cd00131	NULL
7849	7524365	Disease	p.Arg31His	167415.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	23	smart00351	NULL
7849	7524365	Disease	p.Arg31His	167415.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	23	pfam00292	NULL
7849	7669542	Disease	p.Leu62Arg	167415.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	54	cd00131	NULL
7849	7669542	Disease	p.Leu62Arg	167415.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	54	smart00351	NULL
7849	7669542	Disease	p.Leu62Arg	167415.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	54	pfam00292	NULL
7849	215273928	Disease	p.Leu62Arg	167415.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	54	cd00131	5803117,NP_003457
7849	215273928	Disease	p.Leu62Arg	167415.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	54	smart00351	5803117,NP_003457
7849	215273928	Disease	p.Leu62Arg	167415.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	54	pfam00292	5803117,NP_003457
7849	7524363	Disease	p.Leu62Arg	167415.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	54	cd00131	NULL
7849	7524363	Disease	p.Leu62Arg	167415.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	54	smart00351	NULL
7849	7524363	Disease	p.Leu62Arg	167415.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	54	pfam00292	NULL
7849	7524365	Disease	p.Leu62Arg	167415.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	54	cd00131	NULL
7849	7524365	Disease	p.Leu62Arg	167415.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	54	smart00351	NULL
7849	7524365	Disease	p.Leu62Arg	167415.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	54	pfam00292	NULL
7849	7669542	Disease	p.Cys57Tyr	167415.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	49	cd00131	NULL
7849	7669542	Disease	p.Cys57Tyr	167415.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	49	smart00351	NULL
7849	7669542	Disease	p.Cys57Tyr	167415.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	49	pfam00292	NULL
7849	215273928	Disease	p.Cys57Tyr	167415.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	49	cd00131	5803117,NP_003457
7849	215273928	Disease	p.Cys57Tyr	167415.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	49	smart00351	5803117,NP_003457
7849	215273928	Disease	p.Cys57Tyr	167415.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	49	pfam00292	5803117,NP_003457
7849	7524363	Disease	p.Cys57Tyr	167415.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	49	cd00131	NULL
7849	7524363	Disease	p.Cys57Tyr	167415.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	49	smart00351	NULL
7849	7524363	Disease	p.Cys57Tyr	167415.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	49	pfam00292	NULL
7849	7524365	Disease	p.Cys57Tyr	167415.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	49	cd00131	NULL
7849	7524365	Disease	p.Cys57Tyr	167415.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	49	smart00351	NULL
7849	7524365	Disease	p.Cys57Tyr	167415.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	49	pfam00292	NULL
7849	7669542	Disease	p.Ser54Gly	167415.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	46	cd00131	NULL
7849	7669542	Disease	p.Ser54Gly	167415.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	46	smart00351	NULL
7849	7669542	Disease	p.Ser54Gly	167415.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	46	pfam00292	NULL
7849	215273928	Disease	p.Ser54Gly	167415.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	46	cd00131	5803117,NP_003457
7849	215273928	Disease	p.Ser54Gly	167415.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	46	smart00351	5803117,NP_003457
7849	215273928	Disease	p.Ser54Gly	167415.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	46	pfam00292	5803117,NP_003457
7849	7524363	Disease	p.Ser54Gly	167415.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	46	cd00131	NULL
7849	7524363	Disease	p.Ser54Gly	167415.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	46	smart00351	NULL
7849	7524363	Disease	p.Ser54Gly	167415.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	46	pfam00292	NULL
7849	7524365	Disease	p.Ser54Gly	167415.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	46	cd00131	NULL
7849	7524365	Disease	p.Ser54Gly	167415.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	46	smart00351	NULL
7849	7524365	Disease	p.Ser54Gly	167415.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	46	pfam00292	NULL
7849	7669542	Disease	p.Gln40Pro	167415.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	32	cd00131	NULL
7849	7669542	Disease	p.Gln40Pro	167415.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	32	smart00351	NULL
7849	7669542	Disease	p.Gln40Pro	167415.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	32	pfam00292	NULL
7849	215273928	Disease	p.Gln40Pro	167415.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	32	cd00131	5803117,NP_003457
7849	215273928	Disease	p.Gln40Pro	167415.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	32	smart00351	5803117,NP_003457
7849	215273928	Disease	p.Gln40Pro	167415.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	32	pfam00292	5803117,NP_003457
7849	7524363	Disease	p.Gln40Pro	167415.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	32	cd00131	NULL
7849	7524363	Disease	p.Gln40Pro	167415.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	32	smart00351	NULL
7849	7524363	Disease	p.Gln40Pro	167415.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	32	pfam00292	NULL
7849	7524365	Disease	p.Gln40Pro	167415.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	32	cd00131	NULL
7849	7524365	Disease	p.Gln40Pro	167415.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	32	smart00351	NULL
7849	7524365	Disease	p.Gln40Pro	167415.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	32	pfam00292	NULL
7849	7669542	Disease	p.Ser48Phe	167415.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	40	cd00131	NULL
7849	7669542	Disease	p.Ser48Phe	167415.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	40	smart00351	NULL
7849	7669542	Disease	p.Ser48Phe	167415.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	40	pfam00292	NULL
7849	215273928	Disease	p.Ser48Phe	167415.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	40	cd00131	5803117,NP_003457
7849	215273928	Disease	p.Ser48Phe	167415.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	40	smart00351	5803117,NP_003457
7849	215273928	Disease	p.Ser48Phe	167415.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	40	pfam00292	5803117,NP_003457
7849	7524363	Disease	p.Ser48Phe	167415.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	40	cd00131	NULL
7849	7524363	Disease	p.Ser48Phe	167415.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	40	smart00351	NULL
7849	7524363	Disease	p.Ser48Phe	167415.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	40	pfam00292	NULL
7849	7524365	Disease	p.Ser48Phe	167415.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	40	cd00131	NULL
7849	7524365	Disease	p.Ser48Phe	167415.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	40	smart00351	NULL
7849	7524365	Disease	p.Ser48Phe	167415.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167415	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2	OMIM	40	pfam00292	NULL
5078	170784824	Disease	p.Arg121Trp	167413.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167413	DIABETES MELLITUS, TYPE 2	OMIM	10	COG5576	NULL
5078	170784824	Disease	p.Arg121Trp	167413.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167413	DIABETES MELLITUS, TYPE 2	OMIM	126	cd00131	NULL
5078	170784824	Disease	p.Arg133Trp	167413.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167413	DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO	OMIM	21	COG5576	NULL
5078	170784824	Disease	p.Arg37Trp	167413.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167413	DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO	OMIM	41	cd00131	NULL
5078	170784824	Disease	p.Arg37Trp	167413.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167413	DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO	OMIM	41	smart00351	NULL
5078	170784824	Disease	p.Arg37Trp	167413.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167413	DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO	OMIM	41	pfam00292	NULL
5078	170784824	Disease	p.Arg64Trp	167413.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167413	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9	OMIM	68	cd00131	NULL
5078	170784824	Disease	p.Arg64Trp	167413.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167413	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9	OMIM	68	smart00351	NULL
5078	170784824	Disease	p.Arg64Trp	167413.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167413	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9	OMIM	68	pfam00292	NULL
5076	34878709	Disease	p.Gly76Ser	167409.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME	OMIM	61	pfam00292	NULL
5076	34878709	Disease	p.Gly76Ser	167409.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME	OMIM	61	smart00351	NULL
5076	34878709	Disease	p.Gly76Ser	167409.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME	OMIM	61	cd00131	NULL
5076	34878701	Disease	p.Gly76Ser	167409.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME	OMIM	61	pfam00292	NULL
5076	34878701	Disease	p.Gly76Ser	167409.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME	OMIM	61	smart00351	NULL
5076	34878701	Disease	p.Gly76Ser	167409.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME	OMIM	61	cd00131	NULL
5076	34878703	Disease	p.Gly76Ser	167409.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME	OMIM	61	pfam00292	NULL
5076	34878703	Disease	p.Gly76Ser	167409.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME	OMIM	61	smart00351	NULL
5076	34878703	Disease	p.Gly76Ser	167409.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME	OMIM	61	cd00131	NULL
5076	34878716	Disease	p.Gly76Ser	167409.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME	OMIM	61	pfam00292	NULL
5076	34878716	Disease	p.Gly76Ser	167409.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME	OMIM	61	smart00351	NULL
5076	34878716	Disease	p.Gly76Ser	167409.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME	OMIM	61	cd00131	NULL
5076	34878699	Disease	p.Gly76Ser	167409.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME	OMIM	61	pfam00292	NULL
5076	34878699	Disease	p.Gly76Ser	167409.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME	OMIM	61	smart00351	NULL
5076	34878699	Disease	p.Gly76Ser	167409.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME	OMIM	61	cd00131	NULL
5076	34878709	Disease	p.Arg71Thr	167409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES	OMIM	56	pfam00292	NULL
5076	34878709	Disease	p.Arg71Thr	167409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES	OMIM	56	smart00351	NULL
5076	34878709	Disease	p.Arg71Thr	167409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES	OMIM	56	cd00131	NULL
5076	34878701	Disease	p.Arg71Thr	167409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES	OMIM	56	pfam00292	NULL
5076	34878701	Disease	p.Arg71Thr	167409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES	OMIM	56	smart00351	NULL
5076	34878701	Disease	p.Arg71Thr	167409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES	OMIM	56	cd00131	NULL
5076	34878703	Disease	p.Arg71Thr	167409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES	OMIM	56	pfam00292	NULL
5076	34878703	Disease	p.Arg71Thr	167409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES	OMIM	56	smart00351	NULL
5076	34878703	Disease	p.Arg71Thr	167409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES	OMIM	56	cd00131	NULL
5076	34878716	Disease	p.Arg71Thr	167409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES	OMIM	56	pfam00292	NULL
5076	34878716	Disease	p.Arg71Thr	167409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES	OMIM	56	smart00351	NULL
5076	34878716	Disease	p.Arg71Thr	167409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES	OMIM	56	cd00131	NULL
5076	34878699	Disease	p.Arg71Thr	167409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES	OMIM	56	pfam00292	NULL
5076	34878699	Disease	p.Arg71Thr	167409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES	OMIM	56	smart00351	NULL
5076	34878699	Disease	p.Arg71Thr	167409.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=167409	PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES	OMIM	56	cd00131	NULL
867	251757253	Disease	p.Gln367Pro	165360.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165360	NOONAN SYNDROME-LIKE DISORDER	OMIM	No Domain	N/A	52426745,NP_005179
867	251757253	Disease	p.Lys382Glu	165360.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165360	NOONAN SYNDROME-LIKE DISORDER	OMIM	2	smart00184	52426745,NP_005179
867	251757253	Disease	p.Lys382Glu	165360.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165360	NOONAN SYNDROME-LIKE DISORDER	OMIM	2	pfam00097	52426745,NP_005179
867	251757253	Disease	p.Lys382Glu	165360.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165360	NOONAN SYNDROME-LIKE DISORDER	OMIM	3	cd00162	52426745,NP_005179
867	251757253	Disease	p.Asp390Tyr	165360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165360	NOONAN SYNDROME-LIKE DISORDER	OMIM	34	smart00184	52426745,NP_005179
867	251757253	Disease	p.Asp390Tyr	165360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165360	NOONAN SYNDROME-LIKE DISORDER	OMIM	10	pfam00097	52426745,NP_005179
867	251757253	Disease	p.Asp390Tyr	165360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165360	NOONAN SYNDROME-LIKE DISORDER	OMIM	35	cd00162	52426745,NP_005179
867	251757253	Disease	p.Arg420Gln	165360.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165360	NOONAN SYNDROME-LIKE DISORDER	OMIM	101	cd00162	52426745,NP_005179
2737	269849770	Disease	p.Gly727Arg	165240.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165240	POSTAXIAL POLYDACTYLY, TYPE A1/B	OMIM	No Domain	N/A	119393899,NP_000159
2737	269849770	Disease	p.Arg625Trp	165240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165240	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME	OMIM	26	pfam00096	119393899,NP_000159
2737	269849770	Disease	p.Arg625Trp	165240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165240	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME	OMIM	26	smart00355	119393899,NP_000159
2737	269849770	Disease	p.Ala934Pro	165240.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165240	ACROCALLOSAL SYNDROME	OMIM	No Domain	N/A	119393899,NP_000159
2737	269849770	Disease	p.Pro707Ser	165240.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165240	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME	OMIM	No Domain	N/A	119393899,NP_000159
2736	215274258	Disease	p.Arg151Gly	165230.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=165230	HOLOPROSENCEPHALY 9	OMIM	No Domain	N/A	86991432,NP_005261
2248	122748	Disease	p.Ser156Pro	164950.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164950	DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA	OMIM	150	smart00442	4885233,NP_005238
2248	122748	Disease	p.Ser156Pro	164950.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164950	DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA	OMIM	132	cd00058	4885233,NP_005238
2248	122748	Disease	p.Ser156Pro	164950.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164950	DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA	OMIM	184	pfam00167	4885233,NP_005238
2248	122748	Disease	p.Gly66Cys	164950.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164950	DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA	OMIM	45	smart00442	4885233,NP_005238
2248	122748	Disease	p.Gly66Cys	164950.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164950	DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA	OMIM	35	cd00058	4885233,NP_005238
2248	122748	Disease	p.Gly66Cys	164950.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164950	DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA	OMIM	38	pfam00167	4885233,NP_005238
2248	122748	Disease	p.Leu6Pro	164950.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164950	DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA	OMIM	No Domain	N/A	4885233,NP_005238
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	22	cd06659	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd06640	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd06642	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	120	cd05106	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	24	cd05110	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	85	cd05080	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	86	cd05109	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	85	cd05088	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	106	cd05033	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	83	cd05079	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	95	cd05038	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	82	cd05066	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	76	cd05114	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	76	cd05113	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	101	cd07830	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	300	smart00220	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	71	cd07857	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	152	cd06606	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	101	cd05122	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	80	cd05045	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	82	cd06627	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	77	cd05071	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	86	cd05036	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	86	cd05062	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	119	cd05032	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	80	cd05089	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	79	cd05052	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	86	cd05061	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	80	cd05148	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	78	cd05068	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	77	cd05070	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	75	cd05083	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	78	cd05073	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	77	cd05082	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	77	cd05069	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	78	cd05072	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	78	cd05034	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	77	cd05067	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	81	cd05039	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	112	cd05056	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	84	cd05094	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	84	cd05093	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	145	cd05046	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	87	cd05049	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	96	cd05096	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	99	cd05095	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	96	cd05097	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	119	cd05051	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	85	cd05050	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	84	cd05063	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	83	cd05064	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	84	cd05092	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	84	cd05090	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	86	cd05048	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	85	cd05091	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	85_G	cd05108	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	95	cd05100	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	95	cd05099	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	95	cd05053	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	24	cd05111	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	19_G	cd05081	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	23	cd06639	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05065	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	98	cd05101	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	118	cd05107	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	118	cd05105	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	118	cd05055	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	116	cd05104	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	128	pfam07714	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	241	smart00219	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	133	pfam00069	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	369	smart00221	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	71	cd05075	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	84	cd05074	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	94	cd05035	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	104	cd07829	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	76	cd05059	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	101	cd05098	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	30	cd06622	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	13	cd07864	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd08225	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd07847	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	73	cd05047	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	78	cd05060	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	76	cd08217	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	76	cd05044	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	72	cd05087	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	71	cd05041	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	75	cd05042	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	70	cd05085	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	72	cd05086	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	102	cd08215	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	70	cd05084	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	77	cd05040	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	139	cd00192	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	72	cd05115	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	117	cd06608	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	71_G	cd06631	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	19	cd08223	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	19	cd08219	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	19	cd06628	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	19	cd05605	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	21	cd06652	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	20	cd05112	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	68_G	cd06617	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	81	cd06605	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	127	cd05581	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	99	cd07833	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	10	cd05608	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	135	cd05057	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	89	cd05054	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	89	cd05103	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	89	cd05102	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	111	cd05123	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	244	cd00180	NULL
3815	148005039	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	36	cd06654	NULL
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	290	smart00220	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	18	cd06659	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	77	cd06605	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	123	cd05581	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	95	cd07833	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	68_G	cd06617	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	107	cd05123	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	240	cd00180	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	82	cd05036	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	82	cd05062	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	115	cd05032	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	76	cd05089	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	73	cd05071	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	108	cd05056	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	82	cd05061	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	76	cd05148	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	74	cd05068	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	73	cd05070	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	72	cd05083	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	74	cd05073	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	72	cd05082	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	73	cd05069	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	74	cd05072	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	74	cd05034	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	73	cd05067	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	77	cd05039	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	75	cd05052	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	32	cd06654	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	116	cd05106	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	72	cd05114	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	72	cd05113	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	79	cd05080	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	82	cd05109	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	81	cd05088	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	102	cd05033	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	79	cd05079	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	83	cd05038	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	78	cd05066	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	71_G	cd06631	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7_G	cd05608	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	18_G	cd05112	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	17	cd06652	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	9	cd07864	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	97	cd05098	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	72	cd08217	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	72	cd05044	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	68	cd05087	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	67	cd05041	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	71	cd05042	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	66	cd05085	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	68	cd05086	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	91	cd08215	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	66	cd05084	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	73	cd05040	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	135	cd00192	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	69	cd05047	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	74	cd05060	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	101	cd06608	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	94	cd05101	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	21_G	cd05110	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	91	cd05053	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	82	cd05108	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	91	cd05100	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	91	cd05099	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	15	cd08219	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	15	cd06628	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	15	cd08223	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	15	cd05605	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05065	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	72	cd05059	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	363	smart00221	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	119	pfam07714	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	233	smart00219	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	127	pfam00069	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	100	cd07829	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	69_G	cd05075	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	74	cd05074	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	84	cd05035	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	131	cd05057	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	85	cd05054	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	85	cd05103	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	85	cd05102	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	78	cd06627	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	148	cd06606	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	69_G	cd07857	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	97	cd05122	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	76	cd05045	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	19	cd06639	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	21_G	cd05111	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	19	cd05081	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	68	cd05115	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	26	cd06622	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	141	cd05046	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	83	cd05049	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	92	cd05096	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	95	cd05095	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	92	cd05097	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	115	cd05051	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	81	cd05050	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	80	cd05092	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	80	cd05094	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	80	cd05093	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	80	cd05090	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	82	cd05048	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	81	cd05091	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	80	cd05063	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	79	cd05064	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	114	cd05107	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	114	cd05105	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	114	cd05055	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	112	cd05104	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	164920.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	100_G	cd07830	4557695,NP_000213
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	39	cd05106	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05080	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	8	cd05109	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	8	cd05088	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05033	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05079	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05038	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05066	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05114	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05113	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05071	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05036	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05062	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05032	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05089	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05052	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05061	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05148	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05068	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05070	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05083	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05073	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05082	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05069	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05072	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05034	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05067	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05039	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05056	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05094	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05093	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05046	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05049	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05096	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05095	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05097	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05051	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05050	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05063	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05064	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05092	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05090	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05048	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05091	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	13	cd05108	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	13	cd05100	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	13	cd05099	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	13	cd05053	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	16	cd05101	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	38	cd05107	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	38	cd05105	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	38	cd05055	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	36	cd05104	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	19	cd05098	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd06608	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd06617	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd06605	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05581	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd07833	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	8	cd05057	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	8	cd05054	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	8	cd05103	NULL
3815	148005039	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	8	cd05102	NULL
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05036	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05062	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05032	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2_G	cd05089	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05071	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05056	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05061	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05148	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05068	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05070	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05083	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05073	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05082	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05069	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05072	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05034	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05067	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05039	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05052	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	35	cd05106	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	15	cd05098	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	12	cd05101	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	9	cd05053	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	9	cd05108	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	9	cd05100	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	9	cd05099	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	4	cd05057	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	4	cd05054	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	4	cd05103	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	4	cd05102	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05046	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05049	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05096	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05095	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05097	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05051	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05050	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05092	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05094	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05093	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05090	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05048	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05091	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05063	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05064	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	34	cd05107	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	34	cd05105	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	34	cd05055	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	164920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	32	cd05104	4557695,NP_000213
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	38	cd05106	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	4	cd05080	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05109	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05088	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	4	cd05033	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	4	cd05079	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	4	cd05038	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	4	cd05066	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	4	cd05114	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	4	cd05113	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05071	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05036	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05062	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05032	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2_G	cd05089	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05052	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05061	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05148	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05068	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05070	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05083	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05073	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05082	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05069	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05072	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05034	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05067	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05039	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05056	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05094	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05093	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05046	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05049	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05096	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05095	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05097	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05051	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05050	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05063	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05064	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05092	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05090	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05048	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05091	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	12	cd05108	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	12	cd05100	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	12	cd05099	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	12	cd05053	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	15	cd05101	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	37	cd05107	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	37	cd05105	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	37	cd05055	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	35	cd05104	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	18	cd05098	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd06608	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05057	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05054	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05103	NULL
3815	148005039	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05102	NULL
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05036	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05062	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05032	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05089	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05071	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05056	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05061	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05148	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05068	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05070	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05083	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05073	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05082	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05069	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05072	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05034	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05067	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05039	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05052	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	34	cd05106	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	14	cd05098	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	11	cd05101	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	8	cd05053	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	8	cd05108	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	8	cd05100	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	8	cd05099	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05057	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05054	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05103	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05102	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	33	cd05107	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	33	cd05105	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	33	cd05055	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	164920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	31	cd05104	4557695,NP_000213
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	171	cd06659	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	165	cd06616	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	173	cd05118	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	157	cd06640	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	155	cd06642	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	158	cd06643	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	279	cd05106	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	167	cd08530	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	166	cd05110	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	165	cd05080	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	166	cd05109	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	178	cd05088	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	200	cd05033	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	166	cd05079	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	190	cd05038	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	165	cd05066	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	156	cd05114	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	157	cd05113	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	253_G	cd07830	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	652	smart00220	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	168_G	cd06613	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	167	cd05078	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	169	cd05077	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	181	cd06632	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	166	cd07857	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	275	cd06606	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	199	cd05122	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	184	cd05045	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	202	cd06627	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	156	cd06620	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	158	cd05071	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	179	cd05036	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	176	cd05062	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	221	cd05032	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	173	cd05089	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	160	cd05052	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	177	cd05061	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	161	cd05148	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	164	cd05068	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	158	cd05070	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	152	cd05083	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	159	cd05073	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	154	cd05082	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	158	cd05069	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	159	cd05072	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	166	cd05034	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	158	cd05067	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	160	cd05039	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	194	cd05056	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	180	cd05094	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	177	cd05093	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	243	cd05046	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	189	cd05049	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	224	cd05096	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	198	cd05095	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	188	cd05097	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	222	cd05051	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	190	cd05050	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	167	cd05063	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	164	cd05064	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	179	cd05092	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	181	cd05090	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	184	cd05048	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	181	cd05091	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162	cd05578	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	160	cd08221	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	171	cd06634	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	152	cd05116	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	177	cd06618	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	187	cd07841	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	166	cd05108	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	191	cd05100	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	191	cd05099	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	207	cd05053	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	163	cd06625	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	165	cd06644	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	691	cd05579	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	173	cd07852	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	180	cd07837	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	170	cd06648	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	166	cd05111	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	166	cd05081	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	190	cd06639	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	166	cd05065	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	194	cd05101	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	299	cd05107	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	297	cd05105	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	296	cd05055	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	281	cd05104	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	335	pfam07714	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	527	smart00219	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	280	pfam00069	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	836	smart00221	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	184	cd05075	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	170	cd05074	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	180	cd05035	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	211	cd07829	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	158	cd05059	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	160	cd06626	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	166	cd06611	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	197	cd05098	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	170	cd06622	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	175	cd07864	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	174	cd07845	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	185	cd05037	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	164	cd06630	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	165	cd08229	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162	cd08228	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	161	cd08224	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	179	cd06609	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	172	cd06629	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	158	cd08225	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	165	cd07847	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	86	smart00750	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	188	cd07866	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	166	cd05047	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	159	cd05060	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	237_G	cd08217	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	174	cd05044	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162	cd05087	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	152	cd05041	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	160	cd05042	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	150	cd05085	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	157	cd05086	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	220	cd08215	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	151	cd05084	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	166	cd05040	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	386	cd00192	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	153	cd05115	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	197	cd06608	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162	cd05058	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	207	cd07840	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	214	cd06614	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	175	cd06612	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	203	cd05043	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	178_G	cd06917	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	161	cd06631	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	158	cd08223	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	157	cd08219	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	166	cd06628	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	157	cd05605	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	173	cd06610	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	189	cd06652	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	156	cd05112	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162	cd06617	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	172_G	cd06605	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	389	cd05581	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	209	cd07833	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	153	cd05608	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	220	cd05057	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	285	cd05054	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	237	cd05103	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	235	cd05102	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	721	cd05123	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	615	cd00180	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162_G	cd08529	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	163	cd07846	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	205	cd07834	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	199_G	cd06623	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	171	cd06654	NULL
3815	148005039	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	155_G	cd06621	NULL
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	159	cd06625	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	161	cd06644	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	199	cd07834	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	199_G	cd06623	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	154	cd07846	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	159	cd08529	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	152_G	cd06620	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	154	cd05578	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	552	smart00220	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	170	cd06659	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	172	cd06605	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	269	cd05581	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	180	cd07833	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	158	cd06617	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	669	cd05123	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	453	cd00180	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	175	cd05036	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	172	cd05062	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	217	cd05032	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	169	cd05089	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	154	cd05071	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	189	cd05056	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	173	cd05061	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	157	cd05148	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	160	cd05068	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	154	cd05070	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	148_G	cd05083	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	155	cd05073	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	153_G	cd05082	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	154	cd05069	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	155	cd05072	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162	cd05034	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	154	cd05067	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	156_G	cd05039	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	157	cd05052	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	148	cd05116	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	173	cd06618	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	155_G	cd06621	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	184	cd07866	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	169	cd06654	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	156	cd06613	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	275	cd05106	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	153	cd05114	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	154	cd05113	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	161	cd05080	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162	cd05109	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	175_G	cd05088	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	196	cd05033	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162	cd05079	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	186	cd05038	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	159	cd05066	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	169	cd06610	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	163	cd05078	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	165	cd05077	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	166_G	cd06648	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	154	cd08225	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	82	smart00750	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	167	cd06629	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	157	cd06631	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	181	cd05037	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	157	cd06630	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	172_G	cd07845	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162	cd06611	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	154	cd06643	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	158	cd05058	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	161_G	cd06616	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162	cd05118	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	149	cd05608	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	168	cd06612	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	152	cd05112	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	185	cd06652	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	159	cd07847	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	171	cd07864	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	193	cd05098	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	176	cd07837	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	224	cd08217	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	171	cd05044	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	158	cd05087	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	148	cd05041	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	156	cd05042	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	146	cd05085	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	153	cd05086	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	213	cd08215	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	147	cd05084	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162	cd05040	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	373	cd00192	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162	cd05047	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	155	cd05060	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	170	cd07841	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	196	cd06608	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	199	cd05043	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162	cd08530	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	190	cd05101	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162	cd05110	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	164	cd06917	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	203	cd05053	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162	cd05108	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	187	cd05100	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	187	cd05099	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	153	cd08219	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162	cd06628	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	155	cd08223	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	154_G	cd05605	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	156	cd06626	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	159	cd05065	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	155	cd05059	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	831	smart00221	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	328	pfam07714	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	467	smart00219	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	276	pfam00069	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	203	cd07829	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	180	cd05075	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	166	cd05074	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	176	cd05035	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	216	cd05057	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	281	cd05054	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	233	cd05103	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	231	cd05102	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	151_G	cd06642	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	153	cd06640	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	155	cd08221	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	161	cd08229	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	159	cd08228	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	157_G	cd08224	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162	cd07852	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	163	cd06627	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	243	cd06606	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162	cd07857	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	188	cd05122	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	180	cd05045	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	172	cd06632	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	186_G	cd06639	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162	cd05111	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	162	cd05081	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	149	cd05115	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	167	cd06634	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	205	cd06614	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	203	cd07840	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	169	cd06622	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	239	cd05046	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	185	cd05049	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	220	cd05096	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	194	cd05095	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	184	cd05097	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	218	cd05051	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	186	cd05050	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	175	cd05092	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	176	cd05094	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	173	cd05093	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	177	cd05090	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	180	cd05048	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	177	cd05091	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	161	cd05063	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	160	cd05064	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	295	cd05107	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	293	cd05105	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	292	cd05055	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	277	cd05104	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	250	cd07830	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	149	cd05579	4557695,NP_000213
3815	125472	Disease	p.Asp820Gly	164920.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MAST CELL DISEASE, SYSTEMIC	OMIM	177	cd06609	4557695,NP_000213
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	150	cd06659	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	148	cd06616	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	142	cd05118	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	134	cd06640	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	134	cd06642	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	136	cd06643	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	255	cd05106	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	139	cd08530	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	142	cd05110	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	140	cd05080	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	142	cd05109	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	157	cd05088	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	171	cd05033	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	142	cd05079	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	161	cd05038	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	139	cd05066	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	133	cd05114	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	134	cd05113	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	185	cd07830	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	439	smart00220	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	136	cd06613	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd05078	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	138	cd05077	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	152	cd06632	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	142	cd07857	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	214	cd06606	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	167	cd05122	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	160	cd05045	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	140	cd06627	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	139	cd06620	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd05071	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	151	cd05036	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	152	cd05062	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	197	cd05032	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	152	cd05089	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	137	cd05052	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	153	cd05061	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	138	cd05148	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	138	cd05068	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd05070	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	133	cd05083	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	136	cd05073	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd05082	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd05069	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	136	cd05072	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	136	cd05034	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd05067	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	139	cd05039	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	169	cd05056	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	156	cd05094	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	153	cd05093	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	219	cd05046	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	160	cd05049	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	189	cd05096	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	174	cd05095	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	164	cd05097	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	194	cd05051	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	166	cd05050	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	141	cd05063	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	140	cd05064	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	155	cd05092	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	157	cd05090	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	160	cd05048	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	157	cd05091	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	134	cd05578	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd08221	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	148	cd06634	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	128	cd05116	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	152	cd06618	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	150	cd07841	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	142	cd05108	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	167	cd05100	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	167	cd05099	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	183	cd05053	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	139	cd06625	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	143	cd06644	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	129	cd05579	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	142	cd07852	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	151	cd07837	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	149	cd06648	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	142	cd05111	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	141	cd05081	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	168	cd06639	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	139	cd05065	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	170	cd05101	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	275	cd05107	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	273	cd05105	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	272	cd05055	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	257	cd05104	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	289	pfam07714	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	430	smart00219	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	224	pfam00069	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	715	smart00221	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	160	cd05075	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	146	cd05074	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	156	cd05035	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	173	cd07829	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd05059	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd06626	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	138	cd06611	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	173	cd05098	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	148	cd06622	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	151	cd07864	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	154	cd07845	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	152	cd05037	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	136	cd06630	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	139	cd08229	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	139	cd08228	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	140	cd08224	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	156	cd06609	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	143	cd06629	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	134	cd08225	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	139	cd07847	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	63	smart00750	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	164	cd07866	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	145	cd05047	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd05060	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	165	cd08217	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	143	cd05044	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	138	cd05087	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	129	cd05041	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	136	cd05042	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	127	cd05085	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	133	cd05086	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	176	cd08215	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	127	cd05084	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	137	cd05040	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	342	cd00192	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	128	cd05115	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	176	cd06608	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	138	cd05058	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	182	cd07840	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	185	cd06614	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	148	cd06612	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	175	cd05043	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	143	cd06917	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	137	cd06631	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd08223	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	133	cd08219	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	141	cd06628	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd05605	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	145	cd06610	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	163	cd06652	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	133	cd05112	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	138	cd06617	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	151	cd06605	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	249	cd05581	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	155	cd07833	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	130	cd05608	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	195	cd05057	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	261	cd05054	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	213	cd05103	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	211	cd05102	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	649	cd05123	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	374	cd00180	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	139	cd08529	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	134	cd07846	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	176	cd07834	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	181	cd06623	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	149	cd06654	NULL
3815	148005039	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	143	cd06621	NULL
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd06625	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	139	cd06644	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	172	cd07834	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	177	cd06623	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	130	cd07846	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd08529	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd06620	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	130	cd05578	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	431	smart00220	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	146	cd06659	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	147	cd06605	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	245	cd05581	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	151	cd07833	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	134	cd06617	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	645	cd05123	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	370	cd00180	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	147	cd05036	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	148	cd05062	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	193	cd05032	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	148	cd05089	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	131	cd05071	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	165	cd05056	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	149	cd05061	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	134	cd05148	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	134	cd05068	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	131	cd05070	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	129	cd05083	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	132	cd05073	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	131	cd05082	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	131	cd05069	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	132	cd05072	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	132	cd05034	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	131	cd05067	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd05039	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	133	cd05052	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	124	cd05116	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	148	cd06618	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	139	cd06621	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	160	cd07866	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	145	cd06654	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	132	cd06613	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	251	cd05106	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	129	cd05114	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	130	cd05113	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	136	cd05080	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	138	cd05109	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	153	cd05088	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	167	cd05033	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	138	cd05079	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	157	cd05038	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd05066	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	141	cd06610	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	131	cd05078	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	134	cd05077	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	145	cd06648	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	130	cd08225	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	58	smart00750	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	139	cd06629	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	133	cd06631	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	148	cd05037	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	132	cd06630	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	150	cd07845	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	134	cd06611	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	132	cd06643	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	134	cd05058	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	144	cd06616	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	138	cd05118	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	126	cd05608	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	144	cd06612	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	129	cd05112	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	159	cd06652	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd07847	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	147	cd07864	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	169	cd05098	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	147	cd07837	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	161	cd08217	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	139	cd05044	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	134	cd05087	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	125	cd05041	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	132	cd05042	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	123	cd05085	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	129	cd05086	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	172	cd08215	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	123	cd05084	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	133	cd05040	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	338	cd00192	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	141	cd05047	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	131	cd05060	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	146	cd07841	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	172	cd06608	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	171	cd05043	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd08530	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	166	cd05101	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	138	cd05110	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	139	cd06917	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	179	cd05053	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	138	cd05108	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	163	cd05100	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	163	cd05099	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	129	cd08219	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	137	cd06628	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	131	cd08223	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	131	cd05605	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	131	cd06626	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd05065	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	131	cd05059	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	641	smart00221	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	285	pfam07714	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	426	smart00219	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	220	pfam00069	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	169	cd07829	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	156	cd05075	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	142	cd05074	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	152	cd05035	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	191	cd05057	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	257	cd05054	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	209	cd05103	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	207	cd05102	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	130	cd06642	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	130	cd06640	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	131	cd08221	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd08229	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	135	cd08228	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	136	cd08224	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	138	cd07852	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	136	cd06627	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	210	cd06606	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	138	cd07857	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	163	cd05122	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	156	cd05045	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	148	cd06632	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	164	cd06639	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	138	cd05111	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	137	cd05081	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	124	cd05115	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	144	cd06634	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	181	cd06614	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	178	cd07840	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	144	cd06622	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	215	cd05046	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	156	cd05049	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	185	cd05096	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	170	cd05095	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	160	cd05097	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	190	cd05051	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	162	cd05050	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	151	cd05092	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	152	cd05094	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	149	cd05093	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	153	cd05090	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	156	cd05048	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	153	cd05091	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	137	cd05063	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	136	cd05064	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	271	cd05107	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	269	cd05105	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	268	cd05055	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	253	cd05104	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	181	cd07830	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	125	cd05579	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	164920.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM WITH SENSORINEURAL DEAFNESS	OMIM	152	cd06609	4557695,NP_000213
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	199	cd06659	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	200	cd06616	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	195	cd05118	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	183	cd06640	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	183	cd06642	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	190	cd06643	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	306	cd05106	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	190	cd08530	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	193	cd05110	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	192	cd05080	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	193	cd05109	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	205	cd05088	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	227	cd05033	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	194	cd05079	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	220	cd05038	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	191	cd05066	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	183	cd05114	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	184	cd05113	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	298	cd07830	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	776	smart00220	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	191	cd06613	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	189	cd05078	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	191	cd05077	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	208	cd06632	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	200	cd07857	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	328	cd06606	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	227	cd05122	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	211	cd05045	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	227	cd06627	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	188	cd06620	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	185	cd05071	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	206	cd05036	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	203	cd05062	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	248	cd05032	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	200	cd05089	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	187	cd05052	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	204	cd05061	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	188	cd05148	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	191	cd05068	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	185	cd05070	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	179	cd05083	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	186	cd05073	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	181	cd05082	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	185	cd05069	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	186	cd05072	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	196	cd05034	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	185	cd05067	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	188	cd05039	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	221	cd05056	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	214	cd05094	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	204	cd05093	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	269	cd05046	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	216	cd05049	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	251	cd05096	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	225	cd05095	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	215	cd05097	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	254	cd05051	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	217	cd05050	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	193	cd05063	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	191	cd05064	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	206	cd05092	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	208	cd05090	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	211	cd05048	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	208	cd05091	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	193	cd05578	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	186	cd08221	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	196	cd06634	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	180	cd05116	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	205	cd06618	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	220	cd07841	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	193	cd05108	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	218	cd05100	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	218	cd05099	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	234	cd05053	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	192	cd06625	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	197	cd06644	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	726	cd05579	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	211	cd07852	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	202	cd07837	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	198	cd06648	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	193	cd05111	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	193	cd05081	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	222	cd06639	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	193	cd05065	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	221	cd05101	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	326	cd05107	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	324	cd05105	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	323	cd05055	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	308	cd05104	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	379	pfam07714	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	571	smart00219	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	334	pfam00069	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	944	smart00221	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	211	cd05075	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	197	cd05074	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	207	cd05035	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	237	cd07829	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	185	cd05059	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	229	cd06626	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	192	cd06611	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	224	cd05098	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	207	cd06622	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	203	cd07864	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	206	cd07845	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	213	cd05037	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	191	cd06630	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	188	cd08229	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	188	cd08228	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	189	cd08224	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	213	cd06609	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	198	cd06629	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	184	cd08225	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	190	cd07847	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	173	smart00750	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	232	cd07866	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	193	cd05047	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	187	cd05060	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	255	cd08217	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	201	cd05044	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	196	cd05087	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	180	cd05041	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	195	cd05042	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	177	cd05085	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	191	cd05086	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	251	cd08215	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	178	cd05084	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	195	cd05040	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	420	cd00192	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	180	cd05115	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	235	cd06608	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	191	cd05058	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	282	cd07840	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	236	cd06614	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	202	cd06612	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	229	cd05043	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	196	cd06917	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	192	cd06631	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	184	cd08223	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	182	cd08219	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	198	cd06628	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	183	cd05605	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	206	cd06610	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	215	cd06652	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	183	cd05112	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	190	cd06617	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	206	cd06605	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	433	cd05581	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	242	cd07833	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	179	cd05608	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	247	cd05057	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	313	cd05054	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	264	cd05103	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	262	cd05102	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	794	cd05123	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	667	cd00180	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	188	cd08529	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	185	cd07846	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	271	cd07834	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	241	cd06623	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	198	cd06654	NULL
3815	148005039	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	191	cd06621	NULL
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	188	cd06625	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	193	cd06644	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	267	cd07834	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	237	cd06623	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	181	cd07846	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	184	cd08529	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	184	cd06620	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	189	cd05578	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	760	smart00220	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	195	cd06659	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	202	cd06605	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	429	cd05581	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	238	cd07833	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	186	cd06617	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	790	cd05123	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	663	cd00180	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	202	cd05036	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	199	cd05062	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	244	cd05032	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	196	cd05089	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	181	cd05071	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	217	cd05056	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	200	cd05061	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	184	cd05148	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	187	cd05068	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	181	cd05070	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	175	cd05083	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	182	cd05073	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	177	cd05082	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	181	cd05069	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	182	cd05072	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	192	cd05034	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	181	cd05067	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	184	cd05039	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	183	cd05052	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	176	cd05116	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	201	cd06618	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	187	cd06621	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	228	cd07866	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	194	cd06654	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	187	cd06613	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	302	cd05106	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	179	cd05114	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	180	cd05113	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	188	cd05080	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	189	cd05109	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	201	cd05088	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	223	cd05033	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	190	cd05079	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	216	cd05038	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	187	cd05066	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	202	cd06610	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	185	cd05078	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	187	cd05077	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	194	cd06648	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	180	cd08225	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	125	smart00750	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	194	cd06629	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	188	cd06631	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	209	cd05037	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	187	cd06630	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	202	cd07845	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	188	cd06611	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	186	cd06643	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	187	cd05058	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	196	cd06616	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	191	cd05118	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	175	cd05608	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	198	cd06612	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	179	cd05112	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	211	cd06652	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	186	cd07847	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	199	cd07864	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	220	cd05098	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	198	cd07837	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	251	cd08217	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	197	cd05044	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	192	cd05087	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	176	cd05041	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	191	cd05042	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	173	cd05085	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	183	cd05086	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	247	cd08215	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	174	cd05084	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	191	cd05040	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	416	cd00192	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	189	cd05047	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	183	cd05060	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	216	cd07841	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	231	cd06608	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	225	cd05043	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	186	cd08530	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	217	cd05101	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	189	cd05110	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	192	cd06917	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	230	cd05053	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	189	cd05108	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	214	cd05100	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	214	cd05099	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	178	cd08219	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	194	cd06628	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	180	cd08223	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	179	cd05605	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	225	cd06626	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	189	cd05065	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	181	cd05059	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	937	smart00221	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	375	pfam07714	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	567	smart00219	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	330	pfam00069	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	233	cd07829	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	207	cd05075	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	193	cd05074	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	203	cd05035	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	243	cd05057	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	309	cd05054	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	260	cd05103	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	258	cd05102	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	179	cd06642	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	179	cd06640	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	182	cd08221	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	184	cd08229	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	184	cd08228	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	185	cd08224	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	207	cd07852	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	223	cd06627	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	324	cd06606	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	196	cd07857	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	223	cd05122	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	207	cd05045	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	204	cd06632	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	218	cd06639	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	189	cd05111	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	189	cd05081	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	176	cd05115	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	192	cd06634	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	232	cd06614	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	278	cd07840	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	203	cd06622	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	265	cd05046	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	212	cd05049	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	247	cd05096	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	221	cd05095	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	211	cd05097	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	250	cd05051	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	213	cd05050	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	202	cd05092	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	210	cd05094	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	200	cd05093	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	204	cd05090	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	207	cd05048	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	204	cd05091	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	189	cd05063	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	187	cd05064	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	322	cd05107	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	320	cd05105	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	319	cd05055	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	304	cd05104	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	271	cd07830	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	722	cd05579	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	164920.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	209	cd06609	4557695,NP_000213
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	191	cd06659	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	188	cd06616	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	186	cd05118	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	175	cd06640	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	175	cd06642	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	182	cd06643	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	298	cd05106	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	182	cd08530	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	185	cd05110	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	184	cd05080	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	185	cd05109	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	197	cd05088	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	219	cd05033	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	186	cd05079	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	209	cd05038	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	183	cd05066	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	175	cd05114	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	176	cd05113	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	267	cd07830	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	731	smart00220	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	177	cd06613	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	180	cd05078	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	182	cd05077	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	196	cd06632	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	192	cd07857	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	290	cd06606	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	214	cd05122	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	203	cd05045	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	217	cd06627	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	178	cd06620	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	177	cd05071	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	198	cd05036	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	195	cd05062	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	240	cd05032	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	192	cd05089	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	179	cd05052	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	196	cd05061	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	180	cd05148	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	183	cd05068	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	177	cd05070	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	171	cd05083	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	178	cd05073	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	173	cd05082	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	177	cd05069	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	178	cd05072	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	188	cd05034	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	177	cd05067	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	180	cd05039	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	213	cd05056	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	206	cd05094	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	196	cd05093	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	261	cd05046	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	208	cd05049	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	243	cd05096	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	217	cd05095	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	207	cd05097	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	246	cd05051	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	209	cd05050	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	185	cd05063	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	183	cd05064	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	198	cd05092	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	200	cd05090	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	203	cd05048	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	200	cd05091	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	180	cd05578	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	178	cd08221	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	188	cd06634	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	172	cd05116	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	192	cd06618	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	211	cd07841	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	185	cd05108	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	210	cd05100	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	210	cd05099	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	226	cd05053	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	183	cd06625	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	189	cd06644	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	717	cd05579	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	202	cd07852	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	194	cd07837	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	190	cd06648	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	185	cd05111	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	185	cd05081	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	214	cd06639	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	185	cd05065	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	213	cd05101	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	318	cd05107	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	316	cd05105	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	315	cd05055	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	300	cd05104	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	359	pfam07714	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	563	smart00219	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	326	pfam00069	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	872	smart00221	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	203	cd05075	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	189	cd05074	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	199	cd05035	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	228	cd07829	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	177	cd05059	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	209	cd06626	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	178	cd06611	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	216	cd05098	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	199	cd06622	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	195	cd07864	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	197	cd07845	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	199	cd05037	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	183	cd06630	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	180	cd08229	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	180	cd08228	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	181	cd08224	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	203	cd06609	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	187	cd06629	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	176	cd08225	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	182	cd07847	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	121	smart00750	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	224	cd07866	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	185	cd05047	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	179	cd05060	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	245	cd08217	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	193	cd05044	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	188	cd05087	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	172	cd05041	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	187	cd05042	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	169	cd05085	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	179	cd05086	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	242	cd08215	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	170	cd05084	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	187	cd05040	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	405	cd00192	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	172	cd05115	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	227	cd06608	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	183	cd05058	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	275	cd07840	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	228	cd06614	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	190	cd06612	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	221	cd05043	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	187	cd06917	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	184	cd06631	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	176	cd08223	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	174	cd08219	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	190	cd06628	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	175	cd05605	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	196	cd06610	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	207	cd06652	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	175	cd05112	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	181	cd06617	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	193	cd06605	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	411	cd05581	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	222	cd07833	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	171	cd05608	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	239	cd05057	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	305	cd05054	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	256	cd05103	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	254	cd05102	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	743	cd05123	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	634	cd00180	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	180	cd08529	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	176	cd07846	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	261	cd07834	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	228	cd06623	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	190	cd06654	NULL
3815	148005039	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	183	cd06621	NULL
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	179	cd06625	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	180	cd06644	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	257	cd07834	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	224	cd06623	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	172	cd07846	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	176	cd08529	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	174	cd06620	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	176	cd05578	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	710	smart00220	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	187	cd06659	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	189	cd06605	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	407	cd05581	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	218	cd07833	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	174	cd06617	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	739	cd05123	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	630	cd00180	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	194	cd05036	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	191	cd05062	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	236	cd05032	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	188	cd05089	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	173	cd05071	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	209	cd05056	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	192	cd05061	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	176	cd05148	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	179	cd05068	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	173	cd05070	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	167	cd05083	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	174	cd05073	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	169	cd05082	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	173	cd05069	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	174	cd05072	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	184	cd05034	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	173	cd05067	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	176	cd05039	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	175	cd05052	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	168	cd05116	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	188	cd06618	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	179	cd06621	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	219	cd07866	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	186	cd06654	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	173	cd06613	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	294	cd05106	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	171	cd05114	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	172	cd05113	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	180	cd05080	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	181	cd05109	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	193	cd05088	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	215	cd05033	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	182	cd05079	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	205	cd05038	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	179	cd05066	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	192	cd06610	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	176	cd05078	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	178	cd05077	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	186	cd06648	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	172	cd08225	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	117	smart00750	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	183	cd06629	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	180	cd06631	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	195	cd05037	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	179	cd06630	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	193	cd07845	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	175	cd06611	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	173	cd06643	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	179	cd05058	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	184	cd06616	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	182	cd05118	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	167	cd05608	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	186	cd06612	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	171	cd05112	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	203	cd06652	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	177	cd07847	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	190	cd07864	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	212	cd05098	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	189	cd07837	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	241	cd08217	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	189	cd05044	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	177	cd05087	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	168	cd05041	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	176	cd05042	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	165	cd05085	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	172	cd05086	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	238	cd08215	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	166	cd05084	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	183	cd05040	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	401	cd00192	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	181	cd05047	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	175	cd05060	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	207	cd07841	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	213	cd06608	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	217	cd05043	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	178	cd08530	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	209	cd05101	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	181	cd05110	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	183	cd06917	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	222	cd05053	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	181	cd05108	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	206	cd05100	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	206	cd05099	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	170	cd08219	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	186	cd06628	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	172	cd08223	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	171	cd05605	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	205	cd06626	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	181	cd05065	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	173	cd05059	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	865	smart00221	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	355	pfam07714	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	557	smart00219	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	303	pfam00069	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	224	cd07829	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	199	cd05075	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	185	cd05074	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	195	cd05035	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	235	cd05057	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	301	cd05054	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	252	cd05103	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	250	cd05102	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	171	cd06642	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	171	cd06640	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	174	cd08221	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	176	cd08229	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	176	cd08228	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	177	cd08224	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	198	cd07852	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	213	cd06627	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	286	cd06606	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	187	cd07857	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	210	cd05122	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	199	cd05045	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	192	cd06632	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	205	cd06639	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	181	cd05111	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	181	cd05081	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	168	cd05115	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	181	cd06634	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	224	cd06614	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	231	cd07840	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	184	cd06622	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	257	cd05046	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	204	cd05049	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	239	cd05096	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	213	cd05095	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	203	cd05097	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	242	cd05051	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	205	cd05050	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	194	cd05092	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	202	cd05094	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	192	cd05093	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	196	cd05090	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	199	cd05048	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	196	cd05091	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	181	cd05063	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	179	cd05064	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	314	cd05107	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	312	cd05105	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	311	cd05055	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	296	cd05104	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	263	cd07830	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	713	cd05579	4557695,NP_000213
3815	125472	Disease	p.Glu839Lys	164920.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET	OMIM	199	cd06609	4557695,NP_000213
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	39	cd05106	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05080	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	8	cd05109	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	8	cd05088	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05033	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05079	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05038	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05066	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05114	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	5	cd05113	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05071	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05036	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05062	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05032	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05089	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05052	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05061	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05148	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05068	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05070	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05083	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05073	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05082	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05069	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05072	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05034	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05067	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05039	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd05056	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05094	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05093	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05046	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05049	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05096	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05095	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05097	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05051	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05050	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05063	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05064	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05092	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05090	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05048	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	6	cd05091	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	13	cd05108	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	13	cd05100	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	13	cd05099	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	13	cd05053	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	16	cd05101	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	38	cd05107	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	38	cd05105	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	38	cd05055	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	36	cd05104	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	19	cd05098	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	7	cd06608	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd06617	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd06605	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05581	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd07833	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	8	cd05057	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	8	cd05054	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	8	cd05103	NULL
3815	148005039	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	8	cd05102	NULL
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05036	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05062	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05032	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2_G	cd05089	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05071	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05056	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05061	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05148	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05068	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05070	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05083	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05073	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05082	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05069	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05072	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05034	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05067	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05039	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	3	cd05052	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	35	cd05106	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	15	cd05098	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	12	cd05101	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	9	cd05053	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	9	cd05108	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	9	cd05100	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	9	cd05099	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	4	cd05057	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	4	cd05054	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	4	cd05103	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	4	cd05102	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05046	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05049	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05096	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05095	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05097	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05051	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05050	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05092	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05094	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05093	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05090	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05048	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05091	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05063	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	2	cd05064	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	34	cd05107	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	34	cd05105	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	34	cd05055	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	164920.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164920	PIEBALDISM	OMIM	32	cd05104	4557695,NP_000213
2290	152031604	Disease	p.Phe215Leu	164874.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164874	RETT SYNDROME, CONGENITAL VARIANT	OMIM	36	smart00339	32307177,NP_005240
2290	152031604	Disease	p.Phe215Leu	164874.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164874	RETT SYNDROME, CONGENITAL VARIANT	OMIM	57	pfam00250	32307177,NP_005240
2290	152031604	Disease	p.Phe215Leu	164874.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164874	RETT SYNDROME, CONGENITAL VARIANT	OMIM	36	cd00059	32307177,NP_005240
2064	119533	Disease	p.Val655Ile	164870.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164870	ERBB2 POLYMORPHISM	OMIM	65	cd05054	54792096,NP_004439
2064	119533	Disease	p.Val655Ile	164870.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164870	ERBB2 POLYMORPHISM	OMIM	47	cd05107	54792096,NP_004439
2064	119533	Disease	p.Val655Ile	164870.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164870	ERBB2 POLYMORPHISM	OMIM	45	cd05104	54792096,NP_004439
2064	54792098	Disease	p.Val655Ile	164870.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164870	ERBB2 POLYMORPHISM	OMIM	77	cd05107	NULL
2064	54792098	Disease	p.Val655Ile	164870.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164870	ERBB2 POLYMORPHISM	OMIM	80	cd05104	NULL
2064	54792098	Disease	p.Val655Ile	164870.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164870	ERBB2 POLYMORPHISM	OMIM	4	cd05106	NULL
2064	54792098	Disease	p.Val655Ile	164870.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164870	ERBB2 POLYMORPHISM	OMIM	110	cd05054	NULL
2064	54792098	Disease	p.Val655Ile	164870.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164870	ERBB2 POLYMORPHISM	OMIM	34	cd05102	NULL
2064	54792098	Disease	p.Val655Ile	164870.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164870	ERBB2 POLYMORPHISM	OMIM	34	cd05103	NULL
2064	119533	Disease	p.Val654Ile	164870.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164870	ERBB2 POLYMORPHISM	OMIM	64	cd05054	54792096,NP_004439
2064	119533	Disease	p.Val654Ile	164870.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164870	ERBB2 POLYMORPHISM	OMIM	46	cd05107	54792096,NP_004439
2064	119533	Disease	p.Val654Ile	164870.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164870	ERBB2 POLYMORPHISM	OMIM	44	cd05104	54792096,NP_004439
2064	54792098	Disease	p.Val654Ile	164870.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164870	ERBB2 POLYMORPHISM	OMIM	76	cd05107	NULL
2064	54792098	Disease	p.Val654Ile	164870.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164870	ERBB2 POLYMORPHISM	OMIM	79	cd05104	NULL
2064	54792098	Disease	p.Val654Ile	164870.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164870	ERBB2 POLYMORPHISM	OMIM	109	cd05054	NULL
2064	54792098	Disease	p.Val654Ile	164870.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164870	ERBB2 POLYMORPHISM	OMIM	33	cd05102	NULL
2064	54792098	Disease	p.Val654Ile	164870.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164870	ERBB2 POLYMORPHISM	OMIM	33	cd05103	NULL
4613	127604	Disease	p.Arg393His	164840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164840	FEINGOLD SYNDROME	OMIM	10	smart00353	19923312,NP_005369
4613	127604	Disease	p.Arg393His	164840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164840	FEINGOLD SYNDROME	OMIM	12	pfam00010	19923312,NP_005369
4613	127604	Disease	p.Arg393His	164840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164840	FEINGOLD SYNDROME	OMIM	15	cd00083	19923312,NP_005369
4613	127604	Disease	p.Arg393Ser	164840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164840	FEINGOLD SYNDROME	OMIM	10	smart00353	19923312,NP_005369
4613	127604	Disease	p.Arg393Ser	164840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164840	FEINGOLD SYNDROME	OMIM	12	pfam00010	19923312,NP_005369
4613	127604	Disease	p.Arg393Ser	164840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164840	FEINGOLD SYNDROME	OMIM	15	cd00083	19923312,NP_005369
4613	127604	Disease	p.Arg394His	164840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164840	FEINGOLD SYNDROME	OMIM	11	smart00353	19923312,NP_005369
4613	127604	Disease	p.Arg394His	164840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164840	FEINGOLD SYNDROME	OMIM	13	pfam00010	19923312,NP_005369
4613	127604	Disease	p.Arg394His	164840.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164840	FEINGOLD SYNDROME	OMIM	16	cd00083	19923312,NP_005369
4613	127604	Disease	p.Arg382His	164840.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164840	FEINGOLD SYNDROME	OMIM	4	cd00083	19923312,NP_005369
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	8	smart00174	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	6	cd00880	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	6	cd00882	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04109	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04142	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04132	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04148	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04143	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	12	cd04111	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04107	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04119	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	12	cd04115	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	16	cd04110	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04124	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04139	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	smart00175	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	smart00173	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	12	cd04122	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	12	cd01869	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd00157	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04118	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04112	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd00154	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04135	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04106	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04117	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd01863	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd01861	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04130	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	13	cd01864	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04103	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04113	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	15	cd04116	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04101	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04123	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	13	cd01868	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd01862	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04125	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04108	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04120	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd00877	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	14	cd01866	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	36	COG1100	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	17	cd04114	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	15	smart00010	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	13	cd01875	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	11	cd01874	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	11	cd01871	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	11	cd04129	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	11	cd04137	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	11	cd04177	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	11	cd01865	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	11	cd04175	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	11	cd04131	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	11	cd04138	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	11	cd01860	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	11	cd04140	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	11	cd01870	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	11	cd04176	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	11	cd04136	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	11	cd04133	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	5	smart00176	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	12	cd01873	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	12	cd04141	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	13	cd01867	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	12	cd04145	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	9	cd04144	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd04134	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	9	cd04146	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	9	pfam00071	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	14	cd04127	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	9	cd00876	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	10	cd01893	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	9	pfam08477	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	9	cd00878	4505451,NP_002515
4893	131883	Disease	p.Gly13Asp	164790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV	OMIM	9	cd04147	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	76	smart00174	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	114	cd00880	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	296	cd00882	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	50	cd04109	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	48	cd04142	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	50	cd04132	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	75	cd04148	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	49	cd04143	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	55	cd04111	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	106	cd04107	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	78	cd04119	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	50	cd04115	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	54	cd04110	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	49	cd04124	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	70	cd04139	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	68	smart00175	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	48	smart00173	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	50	cd04122	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	51	cd01869	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	119	cd00157	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	49	cd04118	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	135	cd04112	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	183	cd00154	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	47	cd04135	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	50	cd04106	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	48	cd04117	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	58	cd01863	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	51	cd01861	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	47	cd04130	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	98	cd01864	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	46	cd04103	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	52	cd04113	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	53	cd04116	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	52	cd04101	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	58	cd04123	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	55	cd01868	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	49	cd01862	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	73	cd04125	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	48	cd04108	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	48	cd04120	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	54	cd00877	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	52	cd01866	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	162	COG1100	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	55	cd04114	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	90	smart00010	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	50	cd01875	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	48	cd01874	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	48	cd01871	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	48	cd04129	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	54	cd04137	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	48	cd04177	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	49	cd01865	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	48	cd04175	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	48	cd04131	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	48	cd04138	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	93	cd01860	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	49	cd04140	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	48	cd01870	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	48	cd04176	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	48	cd04136	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	50	cd04133	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	43	smart00176	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	66	cd01873	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	49	cd04141	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	51	cd01867	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	49	cd04145	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	46	cd04144	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	48	cd04134	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	92	cd04146	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	62	pfam00071	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	52	cd04127	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	50	cd00876	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	50	cd01893	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	61	pfam08477	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	111	cd00878	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	164790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	47	cd04147	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	86	smart00174	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	124	cd00880	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	306	cd00882	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	60	cd04109	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	58	cd04142	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	60	cd04132	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	84	cd04148	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	59	cd04143	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	65	cd04111	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	116	cd04107	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	88	cd04119	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	60	cd04115	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	64	cd04110	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	59	cd04124	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	80	cd04139	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	79	smart00175	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	58	smart00173	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	60	cd04122	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	61	cd01869	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	129	cd00157	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	59	cd04118	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	145	cd04112	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	193	cd00154	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	57	cd04135	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	60	cd04106	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	58	cd04117	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	68	cd01863	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	61	cd01861	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	57	cd04130	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	108	cd01864	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	56	cd04103	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	62	cd04113	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	63	cd04116	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	62	cd04101	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	68	cd04123	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	65	cd01868	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	59	cd01862	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	83	cd04125	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	58	cd04108	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	58	cd04120	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	64	cd00877	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	62	cd01866	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	172	COG1100	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	65	cd04114	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	101	smart00010	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	60	cd01875	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	58	cd01874	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	58	cd01871	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	58	cd04129	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	64	cd04137	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	58	cd04177	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	59	cd01865	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	58	cd04175	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	58	cd04131	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	58	cd04138	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	103	cd01860	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	59	cd04140	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	58	cd01870	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	58	cd04176	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	58	cd04136	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	60	cd04133	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	53	smart00176	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	76	cd01873	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	59	cd04141	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	61	cd01867	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	59	cd04145	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	56	cd04144	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	58	cd04134	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	102	cd04146	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	72	pfam00071	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	72	cd04127	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	60	cd00876	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	60	cd01893	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	81	pfam08477	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	121	cd00878	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	164790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164790	NOONAN SYNDROME 6	OMIM	57	cd04147	4505451,NP_002515
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd06917	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd08221	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05115	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd06650	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	48	cd06612	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd06640	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45	cd07845	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd06642	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd06641	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd06613	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	102	smart00220	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd06632	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd06631	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd05584	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	38	cd05605	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	38	cd07836	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	40	cd07841	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd08529	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	56	cd07834	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	38	cd08225	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd08530	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd08218	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd08223	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	48	cd06628	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	40	cd05587	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	38	cd05631	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd08222	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd07829	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	53	cd05122	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	51	cd06606	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd06629	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd06627	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd07861	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	50	cd08528	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd05045	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd06630	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd08215	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd05578	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd06651	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	44	cd05614	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd05613	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd05583	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	38	cd07860	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	36	cd05608	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35_G	cd05607	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	40_G	cd05577	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	71	cd00180	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	80	cd05572	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	33	cd05585	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	32	cd05579	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05123	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	60	cd05101	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd08220	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd05108	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	54	cd07878	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	57	cd06656	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	55	cd06634	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45	cd06645	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	57	cd06655	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	57	cd06647	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	82	cd05106	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	78	cd05104	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd05089	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd05036	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	80	cd05032	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd05062	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	71	cd05056	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45	cd07858	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd05083	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd05082	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd05069	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42_G	cd05072	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42_G	cd05068	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd05039	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42_G	cd05034	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd05073	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42_G	cd05067	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42_G	cd05148	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd05070	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd06644	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43_G	cd05052	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd05071	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd05061	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd07839	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd06617	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	138	cd07842	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	40	cd06610	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	60	cd06619	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd06621	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	47	cd06623	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd06605	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd06615	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45	cd07832	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	90	cd05581	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	52	cd06609	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45_G	cd08228	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	40	cd06625	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	38	cd08219	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd08229	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	88	cd05580	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd06622	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	205	COG0515	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	47	cd05574	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd05612	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	47	cd05088	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd07844	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	47_G	cd07866	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd05109	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd05111	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd05110	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd06616	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45	cd05065	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45	cd05081	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	46	cd05079	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45	cd05066	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	69	cd05033	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	48	cd05038	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	46	cd05080	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd05112	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd05114	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	40	cd05113	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	40	cd05059	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	56	cd06638	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	80	cd05055	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd06649	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	108	cd05046	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	48	cd05050	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	59	cd05097	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	59	cd05096	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	48	cd05049	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	62	cd05095	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	79	cd05051	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd06643	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	48	cd05091	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd05048	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	47	cd05090	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	44	cd07872	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd06620	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	47	cd05063	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	46	cd05064	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	47	cd05092	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	47	cd05093	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	48	cd05094	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	44	cd06611	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45	cd06653	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	38	cd05630	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	62	cd05043	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd07847	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd06652	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd08216	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd08224	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	53	cd05076	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd07846	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45	cd07863	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	57	cd06659	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	64	cd06639	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	55	cd06607	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd06626	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd07871	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	44	cd07873	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	50	cd07864	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd05044	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	33	cd05084	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05086	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	32_G	cd05085	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05087	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	38	cd05042	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	33	cd05041	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	37	cd05040	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05603	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05602	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05571	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05595	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	37	cd05118	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	44	cd07837	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05591	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05590	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	33	cd05619	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05592	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05570	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05047	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	40	cd05060	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd08217	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05116	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd05058	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05594	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	53_G	cd05037	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	80	cd00192	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd05078	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd05077	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd07835	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05593	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	36_G	cd05582	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	63	cd06614	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	52	cd07865	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	58	cd06654	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	55	cd06648	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd07856	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	69	cd07840	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	37	cd07831	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd07833	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd06637	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45	cd06608	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	53	cd06618	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	46	cd06624	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	69	cd05057	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	50	cd05103	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	50	cd05054	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	50	cd05102	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	70	cd07830	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	68	pfam07714	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	139	smart00219	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	48	pfam00069	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd05589	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	188	smart00221	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	40	cd07838	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	51	cd05035	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	40	cd05075	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd05074	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	57	cd05099	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	57	cd05053	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	61	cd07851	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	61	cd06633	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	57	cd05100	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	80	cd05107	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	80	cd05105	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	63	cd05098	NULL
5979	10862701	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	65	cd06635	NULL
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd06917	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd08221	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05115	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd06650	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	48	cd06612	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd06640	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45	cd07845	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd06642	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd06641	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd06613	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	102	smart00220	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd06632	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd06631	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd05584	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	38	cd05605	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	38	cd07836	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	40	cd07841	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd08529	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	56	cd07834	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	38	cd08225	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd08530	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd08218	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd08223	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	48	cd06628	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	38	cd05631	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	40	cd05587	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd08222	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd07829	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	53	cd05122	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	51	cd06606	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd06629	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd06627	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd07861	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	50	cd08528	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd05045	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd06630	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd08215	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd05578	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd06651	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	44	cd05614	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd05613	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd05583	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	38	cd07860	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	36	cd05608	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35_G	cd05607	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	40_G	cd05577	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	71	cd00180	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	80	cd05572	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	33	cd05585	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	32	cd05579	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05123	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	60	cd05101	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd08220	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd05108	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	54	cd07878	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	57	cd06656	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	55	cd06634	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45	cd06645	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	57	cd06655	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	57	cd06647	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	82	cd05106	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	78	cd05104	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd05089	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd05036	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	80	cd05032	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd05062	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	71	cd05056	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45	cd07858	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd05083	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd05082	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd05069	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42_G	cd05072	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42_G	cd05068	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd05039	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42_G	cd05034	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd05073	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42_G	cd05067	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42_G	cd05148	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd05070	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd06644	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43_G	cd05052	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd05071	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd05061	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	205	COG0515	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd07839	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd06617	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	138	cd07842	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	40	cd06610	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	60	cd06619	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd06621	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	47	cd06623	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd06605	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd06615	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45	cd07832	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	90	cd05581	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	52	cd06609	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45_G	cd08228	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	40	cd06625	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	38	cd08219	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd08229	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	88	cd05580	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd06622	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	47	cd05574	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd05612	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	47	cd05088	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd07844	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	47_G	cd07866	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd05109	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd05111	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd05110	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd06616	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45	cd05065	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45	cd05081	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	46	cd05079	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45	cd05066	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	69	cd05033	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	48	cd05038	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	46	cd05080	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd05112	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd05114	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	40	cd05113	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	40	cd05059	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	56	cd06638	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	80	cd05055	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	108	cd05046	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	48	cd05050	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	59	cd05096	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	59	cd05097	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	48	cd05049	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	62	cd05095	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	79	cd05051	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd06643	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	48	cd05091	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd05048	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	47	cd05090	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	44	cd07872	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd06620	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	47	cd05063	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	46	cd05064	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	47	cd05092	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd06649	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	47	cd05093	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	48	cd05094	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	44	cd06611	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45	cd06653	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	38	cd05630	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	62	cd05043	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd07847	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd06652	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd08216	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd08224	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	53	cd05076	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd07846	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45	cd07863	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	57	cd06659	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	64	cd06639	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	55	cd06607	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd06626	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd07871	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	44	cd07873	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	50	cd07864	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05571	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05602	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05590	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05592	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05595	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05593	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05047	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	40	cd05060	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd08217	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05116	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	53_G	cd05037	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	80	cd00192	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd05078	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd05077	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05591	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd05044	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	33	cd05084	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05086	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	32_G	cd05085	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05087	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	38	cd05042	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	33	cd05041	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	37	cd05040	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	37	cd05118	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05594	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	44	cd07837	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05570	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	43	cd05058	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	33	cd05619	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	36_G	cd05582	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	35	cd05603	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd07835	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	63	cd06614	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	52	cd07865	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	58	cd06654	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	55	cd06648	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	49	cd07856	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	69	cd07840	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	37	cd07831	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd07833	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	42	cd06637	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	45	cd06608	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	53	cd06618	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	46	cd06624	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	69	cd05057	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	50	cd05103	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	50	cd05054	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	50	cd05102	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	70	cd07830	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	68	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	139	smart00219	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	48	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	39	cd05589	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	188	smart00221	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	40	cd07838	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	51	cd05035	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	40	cd05075	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	41	cd05074	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	57	cd05099	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	57	cd05053	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	61	cd07851	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	61	cd06633	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	57	cd05100	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	80	cd05107	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	80	cd05105	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	63	cd05098	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	164761.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	65	cd06635	10862703,NP_066124
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	159	cd06917	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd08221	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	143	cd05115	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	152	cd06650	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	163	cd06612	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	149	cd06640	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	169	cd07845	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	149	cd06642	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	149	cd06641	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	151	cd06613	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	534	smart00220	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	167	cd06632	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	152	cd06631	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	152	cd05584	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd05605	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	151	cd07836	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	165	cd07841	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd08529	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	194	cd07834	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd08225	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	157	cd08530	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	149	cd08218	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd08223	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	156	cd06628	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd05587	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd05631	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd08222	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	198	cd07829	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	183	cd05122	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	238	cd06606	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	158	cd06629	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	158	cd06627	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd07861	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	171	cd08528	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	175	cd05045	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	152	cd06630	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	208	cd08215	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	149	cd05578	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd06651	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	153	cd05614	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	166	cd05613	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	153	cd05583	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	148	cd07860	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	145	cd05608	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	143	cd05607	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	148	cd05577	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	448	cd00180	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	216	cd05572	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	141	cd05585	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	144	cd05579	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	664	cd05123	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	185	cd05101	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	159	cd08220	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	157	cd05108	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	166	cd07878	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	163	cd06656	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	163	cd06634	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd06645	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	163	cd06655	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	163	cd06647	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	270	cd05106	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	272	cd05104	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	167	cd05089	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	169	cd05036	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	212	cd05032	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	167	cd05062	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	184	cd05056	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	157	cd07858	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	148	cd05083	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd05082	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd05069	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	151	cd05072	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	153	cd05068	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd05039	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	155	cd05034	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	151	cd05073	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd05067	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	153	cd05148	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd05070	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	162	cd06644	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	152	cd05052	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd05071	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	168	cd05061	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	146_G	cd07839	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	153	cd06617	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	258	cd07842	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	160	cd06610	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	164	cd06619	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	158	cd06621	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	197	cd06623	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	167	cd06605	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd06615	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	168	cd07832	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	264	cd05581	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	171_G	cd06609	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd08228	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd06625	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	148	cd08219	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd08229	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	202	cd05580	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	164	cd06622	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	668	COG0515	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	171	cd05574	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	149	cd05612	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	172	cd05088	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	152	cd07844	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	179	cd07866	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	157	cd05109	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	157	cd05111	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	157	cd05110	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	162_G	cd06616	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd05065	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	156	cd05081	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	157	cd05079	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd05066	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	186	cd05033	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	180	cd05038	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	155	cd05080	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	148	cd05112	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	148	cd05114	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	149	cd05113	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd05059	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	172	cd06638	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	287	cd05055	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	152	cd06649	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd05046	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	181	cd05050	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	179	cd05097	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	215	cd05096	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	180	cd05049	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	189	cd05095	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	213	cd05051	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	155	cd06643	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	172	cd05091	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	175	cd05048	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	172	cd05090	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	152	cd07872	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd06620	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	156	cd05063	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	155	cd05064	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	170	cd05092	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	168	cd05093	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	171	cd05094	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	153	cd06611	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd06653	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd05630	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	193	cd05043	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd07847	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	178	cd06652	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	151	cd08216	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	155	cd08224	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	172	cd05076	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	149	cd07846	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	159	cd07863	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	165	cd06659	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	183	cd06639	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	163	cd06607	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	151	cd06626	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	151	cd07871	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	152	cd07873	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	166	cd07864	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	165	cd05044	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	142	cd05084	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	148	cd05086	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	142	cd05085	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	153	cd05087	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	151	cd05042	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	144	cd05041	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	156	cd05040	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	144	cd05603	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	144	cd05602	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	144	cd05571	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	143	cd05595	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	157	cd05118	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	167	cd07837	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	144	cd05591	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	144	cd05590	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	144	cd05619	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	159	cd05592	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	146	cd05570	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	160	cd05047	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd05060	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	219	cd08217	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	143	cd05116	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	153	cd05058	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	144	cd05594	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	175	cd05037	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	368	cd00192	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	158	cd05078	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	160	cd05077	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	175	cd07835	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	143	cd05593	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	146	cd05582	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	200	cd06614	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	172	cd07865	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	164	cd06654	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	168	cd06648	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	156	cd07856	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	198	cd07840	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	155	cd07831	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	175	cd07833	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	159	cd06637	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	191	cd06608	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	168	cd06618	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	162	cd06624	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	210	cd05057	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	228	cd05103	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	276	cd05054	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	226	cd05102	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd07830	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	323	pfam07714	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	461	smart00219	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	259	pfam00069	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	149	cd05589	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	626	smart00221	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	175	cd07838	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	171	cd05035	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	175	cd05075	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	161	cd05074	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	182	cd05099	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	198	cd05053	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	182	cd07851	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	169	cd06633	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	182	cd05100	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	290	cd05107	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	288	cd05105	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	188	cd05098	NULL
5979	10862701	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	173	cd06635	NULL
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	159	cd06917	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd08221	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	143	cd05115	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	152	cd06650	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	163	cd06612	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	149	cd06640	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	169	cd07845	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	149	cd06642	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	149	cd06641	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	151	cd06613	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	534	smart00220	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	167	cd06632	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	152	cd06631	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	152	cd05584	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd05605	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	151	cd07836	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	165	cd07841	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd08529	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	194	cd07834	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd08225	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	157	cd08530	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	149	cd08218	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd08223	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	156	cd06628	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd05631	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd05587	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd08222	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	198	cd07829	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	183	cd05122	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	238	cd06606	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	158	cd06629	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	158	cd06627	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd07861	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	171	cd08528	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	175	cd05045	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	152	cd06630	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	208	cd08215	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	149	cd05578	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd06651	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	153	cd05614	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	166	cd05613	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	153	cd05583	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	148	cd07860	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	145	cd05608	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	143	cd05607	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	148	cd05577	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	448	cd00180	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	216	cd05572	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	141	cd05585	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	144	cd05579	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	664	cd05123	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	185	cd05101	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	159	cd08220	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	157	cd05108	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	166	cd07878	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	163	cd06656	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	163	cd06634	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd06645	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	163	cd06655	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	163	cd06647	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	270	cd05106	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	272	cd05104	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	167	cd05089	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	169	cd05036	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	212	cd05032	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	167	cd05062	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	184	cd05056	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	157	cd07858	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	148	cd05083	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd05082	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd05069	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	151	cd05072	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	153	cd05068	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd05039	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	155	cd05034	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	151	cd05073	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd05067	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	153	cd05148	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd05070	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	162	cd06644	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	152	cd05052	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd05071	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	168	cd05061	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	668	COG0515	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	146_G	cd07839	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	153	cd06617	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	258	cd07842	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	160	cd06610	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	164	cd06619	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	158	cd06621	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	197	cd06623	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	167	cd06605	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd06615	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	168	cd07832	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	264	cd05581	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	171_G	cd06609	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd08228	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd06625	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	148	cd08219	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd08229	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	202	cd05580	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	164	cd06622	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	171	cd05574	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	149	cd05612	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	172	cd05088	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	152	cd07844	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	179	cd07866	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	157	cd05109	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	157	cd05111	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	157	cd05110	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	162_G	cd06616	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd05065	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	156	cd05081	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	157	cd05079	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd05066	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	186	cd05033	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	180	cd05038	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	155	cd05080	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	148	cd05112	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	148	cd05114	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	149	cd05113	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd05059	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	172	cd06638	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	287	cd05055	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd05046	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	181	cd05050	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	215	cd05096	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	179	cd05097	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	180	cd05049	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	189	cd05095	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	213	cd05051	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	155	cd06643	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	172	cd05091	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	175	cd05048	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	172	cd05090	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	152	cd07872	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd06620	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	156	cd05063	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	155	cd05064	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	170	cd05092	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	152	cd06649	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	168	cd05093	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	171	cd05094	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	153	cd06611	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd06653	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd05630	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	193	cd05043	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	154	cd07847	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	178	cd06652	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	151	cd08216	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	155	cd08224	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	172	cd05076	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	149	cd07846	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	159	cd07863	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	165	cd06659	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	183	cd06639	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	163	cd06607	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	151	cd06626	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	151	cd07871	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	152	cd07873	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	166	cd07864	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	144	cd05571	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	144	cd05602	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	144	cd05590	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	159	cd05592	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	143	cd05595	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	143	cd05593	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	160	cd05047	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	150	cd05060	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	219	cd08217	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	143	cd05116	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	175	cd05037	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	368	cd00192	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	158	cd05078	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	160	cd05077	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	144	cd05591	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	165	cd05044	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	142	cd05084	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	148	cd05086	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	142	cd05085	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	153	cd05087	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	151	cd05042	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	144	cd05041	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	156	cd05040	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	157	cd05118	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	144	cd05594	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	167	cd07837	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	146	cd05570	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	153	cd05058	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	144	cd05619	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	146	cd05582	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	144	cd05603	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	175	cd07835	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	200	cd06614	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	172	cd07865	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	164	cd06654	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	168	cd06648	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	156	cd07856	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	198	cd07840	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	155	cd07831	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	175	cd07833	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	159	cd06637	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	191	cd06608	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	168	cd06618	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	162	cd06624	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	210	cd05057	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	228	cd05103	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	276	cd05054	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	226	cd05102	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd07830	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	323	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	461	smart00219	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	259	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	149	cd05589	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	626	smart00221	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	175	cd07838	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	171	cd05035	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	175	cd05075	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	161	cd05074	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	182	cd05099	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	198	cd05053	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	182	cd07851	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	169	cd06633	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	182	cd05100	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	290	cd05107	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	288	cd05105	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	188	cd05098	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	164761.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	173	cd06635	10862703,NP_066124
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	238	cd06917	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd08221	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	219	cd05115	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	220	cd06650	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	244	cd06612	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	221	cd06640	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	276	cd07845	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	221	cd06642	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	221	cd06641	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	233	cd06613	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	947	smart00220	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	248	cd06632	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	231	cd06631	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	223	cd05584	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd05605	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	228	cd07836	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	263	cd07841	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	253	cd08529	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	375	cd07834	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	222	cd08225	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	228	cd08530	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	221	cd08218	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	222	cd08223	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd06628	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd05587	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd05631	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	226	cd08222	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	309	cd07829	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	310	cd05122	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	379	cd06606	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd06629	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	267	cd06627	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	227	cd07861	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd08528	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	250	cd05045	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd06630	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	294	cd08215	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	238	cd05578	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	227	cd06651	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	228	cd05614	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	240	cd05613	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232_G	cd05583	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd07860	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	216	cd05608	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	220	cd05607	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd05577	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	824	cd00180	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	300	cd05572	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	212	cd05585	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	780	cd05579	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	843	cd05123	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	260	cd05101	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	228	cd08220	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd05108	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	239	cd07878	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd06656	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd06634	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	233	cd06645	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd06655	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd06647	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	346	cd05106	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	348	cd05104	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	239	cd05089	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	245	cd05036	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	288	cd05032	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd05062	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	260	cd05056	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	236	cd07858	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	218	cd05083	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	220	cd05082	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd05069	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd05072	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd05068	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	227	cd05039	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	235	cd05034	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd05073	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	250	cd05067	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	260	cd05148	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd05070	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd06644	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	226	cd05052	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd05071	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	243	cd05061	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	219_G	cd07839	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	229	cd06617	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	391	cd07842	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	248	cd06610	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	251	cd06619	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd06621	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	295	cd06623	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	293	cd06605	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd06615	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	298	cd07832	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	478	cd05581	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	259	cd06609	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	222	cd08228	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	231	cd06625	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	220	cd08219	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd08229	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	285	cd05580	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	248	cd06622	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	1106	COG0515	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	318	cd05574	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	217	cd05612	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	244	cd05088	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd07844	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	310	cd07866	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd05109	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd05111	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd05110	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	243	cd06616	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd05065	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd05081	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd05079	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd05066	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	266	cd05033	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	287	cd05038	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	245	cd05080	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	222	cd05112	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	222	cd05114	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	223	cd05113	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd05059	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	251	cd06638	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	363	cd05055	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	248	cd06649	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	310	cd05046	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	256	cd05050	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	262	cd05097	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	298	cd05096	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	258	cd05049	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	272	cd05095	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	317	cd05051	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd06643	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd05091	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	250	cd05048	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd05090	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	229	cd07872	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	286	cd06620	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd05063	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd05064	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	245	cd05092	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	243	cd05093	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	306	cd05094	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd06611	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	227	cd06653	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd05630	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	268	cd05043	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	229	cd07847	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	251	cd06652	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	274	cd08216	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	227	cd08224	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	243	cd05076	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	258	cd07846	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd07863	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd06659	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	262	cd06639	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd06607	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	271	cd06626	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	228	cd07871	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	229	cd07873	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	265	cd07864	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	240	cd05044	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	217	cd05084	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd05086	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	216	cd05085	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	235	cd05087	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	236	cd05042	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	219	cd05041	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	236	cd05040	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	219	cd05603	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	216	cd05602	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	215	cd05571	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	214	cd05595	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	260	cd05118	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	238	cd07837	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	215	cd05591	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	215	cd05590	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	215	cd05619	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	231	cd05592	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	226	cd05570	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd05047	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	226	cd05060	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	294	cd08217	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	219	cd05116	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd05058	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	215	cd05594	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	257	cd05037	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	480	cd00192	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	228	cd05078	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd05077	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	252	cd07835	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	214	cd05593	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	217	cd05582	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	276	cd06614	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	276	cd07865	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	238	cd06654	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	239	cd06648	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd07856	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	327	cd07840	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	260	cd07831	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	335	cd07833	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd06637	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	275	cd06608	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	250	cd06618	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	238	cd06624	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	286	cd05057	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	304	cd05103	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	353	cd05054	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	302	cd05102	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	356_G	cd07830	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	447	pfam07714	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	657	smart00219	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	393	pfam00069	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	220	cd05589	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	973	smart00221	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	290	cd07838	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	246	cd05035	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	250	cd05075	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	236	cd05074	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	257	cd05099	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	274	cd05053	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	262	cd07851	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	241	cd06633	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	258	cd05100	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	366	cd05107	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	364	cd05105	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	263	cd05098	NULL
5979	10862701	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	245	cd06635	NULL
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	238	cd06917	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd08221	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	219	cd05115	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	220	cd06650	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	244	cd06612	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	221	cd06640	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	276	cd07845	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	221	cd06642	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	221	cd06641	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	233	cd06613	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	947	smart00220	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	248	cd06632	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	231	cd06631	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	223	cd05584	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd05605	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	228	cd07836	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	263	cd07841	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	253	cd08529	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	375	cd07834	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	222	cd08225	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	228	cd08530	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	221	cd08218	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	222	cd08223	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd06628	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd05631	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd05587	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	226	cd08222	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	309	cd07829	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	310	cd05122	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	379	cd06606	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd06629	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	267	cd06627	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	227	cd07861	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd08528	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	250	cd05045	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd06630	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	294	cd08215	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	238	cd05578	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	227	cd06651	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	228	cd05614	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	240	cd05613	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232_G	cd05583	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd07860	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	216	cd05608	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	220	cd05607	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd05577	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	824	cd00180	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	300	cd05572	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	212	cd05585	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	780	cd05579	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	843	cd05123	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	260	cd05101	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	228	cd08220	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd05108	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	239	cd07878	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd06656	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd06634	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	233	cd06645	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd06655	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd06647	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	346	cd05106	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	348	cd05104	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	239	cd05089	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	245	cd05036	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	288	cd05032	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd05062	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	260	cd05056	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	236	cd07858	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	218	cd05083	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	220	cd05082	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd05069	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd05072	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd05068	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	227	cd05039	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	235	cd05034	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd05073	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	250	cd05067	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	260	cd05148	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd05070	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd06644	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	226	cd05052	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd05071	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	243	cd05061	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	1106	COG0515	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	219_G	cd07839	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	229	cd06617	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	391	cd07842	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	248	cd06610	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	251	cd06619	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd06621	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	295	cd06623	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	293	cd06605	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd06615	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	298	cd07832	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	478	cd05581	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	259	cd06609	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	222	cd08228	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	231	cd06625	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	220	cd08219	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd08229	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	285	cd05580	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	248	cd06622	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	318	cd05574	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	217	cd05612	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	244	cd05088	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd07844	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	310	cd07866	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd05109	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd05111	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd05110	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	243	cd06616	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd05065	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd05081	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd05079	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd05066	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	266	cd05033	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	287	cd05038	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	245	cd05080	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	222	cd05112	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	222	cd05114	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	223	cd05113	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd05059	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	251	cd06638	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	363	cd05055	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	310	cd05046	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	256	cd05050	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	298	cd05096	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	262	cd05097	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	258	cd05049	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	272	cd05095	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	317	cd05051	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd06643	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd05091	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	250	cd05048	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd05090	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	229	cd07872	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	286	cd06620	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd05063	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd05064	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	245	cd05092	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	216	cd06649	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	243	cd05093	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	306	cd05094	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd06611	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	227	cd06653	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd05630	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	268	cd05043	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	229	cd07847	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	251	cd06652	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	274	cd08216	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	227	cd08224	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	243	cd05076	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	258	cd07846	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd07863	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd06659	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	262	cd06639	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd06607	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	271	cd06626	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	228	cd07871	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	229	cd07873	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	265	cd07864	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	215	cd05571	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	204	cd05602	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	215	cd05590	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	231	cd05592	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	214	cd05595	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	214	cd05593	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd05047	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	226	cd05060	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	294	cd08217	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	219	cd05116	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	257	cd05037	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	480	cd00192	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	228	cd05078	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd05077	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	215	cd05591	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	240	cd05044	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	217	cd05084	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd05086	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	216	cd05085	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	235	cd05087	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	236	cd05042	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	219	cd05041	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	236	cd05040	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	260	cd05118	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	215	cd05594	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	238	cd07837	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	226	cd05570	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd05058	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	215	cd05619	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	217	cd05582	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	205_G	cd05603	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	252	cd07835	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	276	cd06614	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	276	cd07865	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	238	cd06654	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	239	cd06648	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd07856	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	327	cd07840	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	260	cd07831	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	335	cd07833	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd06637	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	275	cd06608	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	250	cd06618	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	238	cd06624	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	286	cd05057	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	304	cd05103	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	353	cd05054	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	302	cd05102	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	356_G	cd07830	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	447	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	657	smart00219	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	393	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	220	cd05589	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	973	smart00221	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	290	cd07838	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	246	cd05035	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	250	cd05075	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	236	cd05074	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	257	cd05099	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	274	cd05053	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	262	cd07851	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	241	cd06633	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	258	cd05100	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	366	cd05107	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	364	cd05105	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	263	cd05098	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	164761.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	245	cd06635	10862703,NP_066124
5979	10862701	Disease	p.Ser32Leu	164761.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	NULL
5979	547807	Disease	p.Ser32Leu	164761.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	10862703,NP_066124
5979	10862701	Disease	p.Pro64Leu	164761.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	NULL
5979	547807	Disease	p.Pro64Leu	164761.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	10862703,NP_066124
5979	10862701	Disease	p.Arg330Gln	164761.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	278	cd00031	NULL
5979	547807	Disease	p.Arg330Gln	164761.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	278	cd00031	10862703,NP_066124
5979	10862701	Disease	p.Phe393Leu	164761.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	NULL
5979	547807	Disease	p.Phe393Leu	164761.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	10862703,NP_066124
5979	10862701	Disease	p.Arg313Gln	164761.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	249	cd00031	NULL
5979	547807	Disease	p.Arg313Gln	164761.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	249	cd00031	10862703,NP_066124
5979	10862701	Disease	p.Arg231His	164761.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	80	pfam00028	NULL
5979	10862701	Disease	p.Arg231His	164761.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	111	cd00031	NULL
5979	547807	Disease	p.Arg231His	164761.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	80	pfam00028	10862703,NP_066124
5979	547807	Disease	p.Arg231His	164761.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	111	cd00031	10862703,NP_066124
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	248	cd06917	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	236	cd08221	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	229	cd05115	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	253	cd06650	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	254	cd06612	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	231	cd06640	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	291	cd07845	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	231	cd06642	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	231	cd06641	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	243	cd06613	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	1183	smart00220	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	258	cd06632	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd06631	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	233	cd05584	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd05605	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd07836	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	273	cd07841	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	436	cd07834	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd08225	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	239	cd08530	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	231	cd08218	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd08223	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd06628	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	235	cd05587	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd05631	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	236	cd08222	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	340	cd07829	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	329	cd05122	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	405	cd06606	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	251	cd06629	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	278	cd06627	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd07861	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	254	cd08528	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	260	cd05045	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	243	cd06630	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	313	cd08215	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	258	cd05578	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	239	cd06651	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	240	cd05614	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	258	cd05613	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd05583	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	235	cd07860	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd05608	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	229	cd05607	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	235	cd05577	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	834	cd00180	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	312	cd05572	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	222	cd05585	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	799	cd05579	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	880	cd05123	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	270	cd05101	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	240	cd08220	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd05108	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	249	cd07878	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd06656	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd06634	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	243	cd06645	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd06655	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd06647	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	356	cd05106	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	358	cd05104	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	249	cd05089	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	255	cd05036	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	301	cd05032	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	252	cd05062	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	270	cd05056	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	248	cd07858	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	228	cd05083	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd05082	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd05069	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	235	cd05072	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	240	cd05068	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd05039	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd05034	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	235	cd05073	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	260	cd05067	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	270	cd05148	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd05070	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd06644	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	236	cd05052	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd05071	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	253	cd05061	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	226	cd07839	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	241	cd06617	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	413	cd07842	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	267	cd06610	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	261	cd06619	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	253	cd06621	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	316	cd06623	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	314	cd06605	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	280	cd06615	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	313	cd07832	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	505	cd05581	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	270	cd06609	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	239	cd08228	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	241	cd06625	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd08219	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	239	cd08229	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	297	cd05580	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	259	cd06622	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	1141	COG0515	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	333	cd05574	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	228	cd05612	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	254	cd05088	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	241	cd07844	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	324	cd07866	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd05109	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd05111	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd05110	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	257	cd06616	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd05065	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	257	cd05081	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	257	cd05079	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	240	cd05066	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	276	cd05033	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	303	cd05038	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	255	cd05080	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd05112	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd05114	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	233	cd05113	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd05059	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	261	cd06638	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	373	cd05055	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	255	cd06649	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	320	cd05046	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	266	cd05050	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	272	cd05097	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	308	cd05096	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	268	cd05049	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	283	cd05095	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	327	cd05051	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	240	cd06643	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	257	cd05091	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	260	cd05048	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	257	cd05090	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	239	cd07872	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	302	cd06620	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd05063	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	240	cd05064	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	255	cd05092	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	253	cd05093	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	316	cd05094	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd06611	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	244	cd06653	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd05630	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	278	cd05043	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	243	cd07847	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	263	cd06652	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	289	cd08216	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	241	cd08224	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	251	cd05076	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	282	cd07846	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	244	cd07863	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd06659	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	272	cd06639	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	251	cd06607	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	283	cd06626	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	238	cd07871	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	239	cd07873	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	273	cd07864	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	250	cd05044	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	227	cd05084	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	245	cd05086	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	226	cd05085	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	250	cd05087	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	249	cd05042	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	229	cd05041	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	246	cd05040	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	229	cd05603	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd05602	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd05571	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd05595	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	286	cd05118	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd07837	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd05591	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd05590	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd05619	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	241	cd05592	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	236	cd05570	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd05047	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	236	cd05060	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	304	cd08217	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	229	cd05116	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	240	cd05058	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd05594	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	271	cd05037	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	496	cd00192	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	236	cd05078	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	238	cd05077	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	262	cd07835	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd05593	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	227	cd05582	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	286	cd06614	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	297	cd07865	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	248	cd06654	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	249	cd06648	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	240	cd07856	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	338	cd07840	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	275	cd07831	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	346	cd07833	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd06637	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	285	cd06608	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	260	cd06618	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	248	cd06624	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	296	cd05057	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	314	cd05103	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	363	cd05054	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	312	cd05102	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	371	cd07830	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	458	pfam07714	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	675	smart00219	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	444	pfam00069	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd05589	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	983	smart00221	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	330	cd07838	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	256	cd05035	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	260	cd05075	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	246	cd05074	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	267	cd05099	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	284	cd05053	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	272	cd07851	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	251	cd06633	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	268	cd05100	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	376	cd05107	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	374	cd05105	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	273	cd05098	NULL
5979	10862701	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	255	cd06635	NULL
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	248	cd06917	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	236	cd08221	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	229	cd05115	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	227_G	cd06650	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	254	cd06612	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	231	cd06640	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	291	cd07845	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	231	cd06642	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	231	cd06641	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	243	cd06613	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	1183	smart00220	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	258	cd06632	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd06631	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	233	cd05584	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd05605	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd07836	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	273	cd07841	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	436	cd07834	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd08225	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	239	cd08530	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	231	cd08218	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd08223	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd06628	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd05631	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	235	cd05587	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	236	cd08222	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	340	cd07829	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	329	cd05122	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	405	cd06606	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	251	cd06629	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	278	cd06627	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd07861	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	254	cd08528	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	260	cd05045	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	243	cd06630	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	313	cd08215	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	258	cd05578	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	239	cd06651	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	240	cd05614	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	258	cd05613	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd05583	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	235	cd07860	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd05608	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	229	cd05607	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	235	cd05577	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	834	cd00180	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	312	cd05572	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	222	cd05585	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	799	cd05579	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	880	cd05123	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	270	cd05101	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	240	cd08220	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd05108	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	249	cd07878	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd06656	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd06634	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	243	cd06645	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd06655	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd06647	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	356	cd05106	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	358	cd05104	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	249	cd05089	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	255	cd05036	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	301	cd05032	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	252	cd05062	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	270	cd05056	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	248	cd07858	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	228	cd05083	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd05082	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd05069	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	235	cd05072	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	240	cd05068	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	237	cd05039	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd05034	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	235	cd05073	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	260	cd05067	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	270	cd05148	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd05070	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd06644	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	236	cd05052	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd05071	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	253	cd05061	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	1141	COG0515	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	226	cd07839	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	241	cd06617	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	413	cd07842	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	267	cd06610	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	261	cd06619	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	253	cd06621	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	316	cd06623	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	314	cd06605	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	280	cd06615	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	313	cd07832	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	505	cd05581	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	270	cd06609	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	239	cd08228	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	241	cd06625	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd08219	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	239	cd08229	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	297	cd05580	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	259	cd06622	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	333	cd05574	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	228	cd05612	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	254	cd05088	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	241	cd07844	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	324	cd07866	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd05109	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd05111	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd05110	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	257	cd06616	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd05065	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	257	cd05081	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	257	cd05079	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	240	cd05066	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	276	cd05033	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	303	cd05038	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	255	cd05080	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd05112	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	232	cd05114	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	233	cd05113	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd05059	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	261	cd06638	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	373	cd05055	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	320	cd05046	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	266	cd05050	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	308	cd05096	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	272	cd05097	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	268	cd05049	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	283	cd05095	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	327	cd05051	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	240	cd06643	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	257	cd05091	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	260	cd05048	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	257	cd05090	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	239	cd07872	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	302	cd06620	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd05063	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	240	cd05064	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	255	cd05092	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	226	cd06649	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	253	cd05093	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	316	cd05094	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd06611	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	244	cd06653	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	234	cd05630	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	278	cd05043	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	243	cd07847	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	263	cd06652	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	289	cd08216	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	241	cd08224	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	251	cd05076	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	282	cd07846	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	244	cd07863	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd06659	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	272	cd06639	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	251	cd06607	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	283	cd06626	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	238	cd07871	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	239	cd07873	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	273	cd07864	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd05571	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	212_G	cd05602	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd05590	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	241	cd05592	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd05595	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	224	cd05593	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	242	cd05047	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	236	cd05060	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	304	cd08217	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	229	cd05116	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	271	cd05037	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	496	cd00192	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	236	cd05078	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	238	cd05077	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd05591	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	250	cd05044	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	227	cd05084	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	245	cd05086	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	226	cd05085	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	250	cd05087	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	249	cd05042	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	229	cd05041	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	246	cd05040	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	286	cd05118	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd05594	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd07837	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	236	cd05570	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	240	cd05058	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	225	cd05619	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	227	cd05582	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	212_G	cd05603	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	262	cd07835	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	286	cd06614	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	297	cd07865	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	248	cd06654	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	249	cd06648	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	240	cd07856	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	338	cd07840	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	275	cd07831	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	346	cd07833	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	247	cd06637	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	285	cd06608	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	260	cd06618	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	248	cd06624	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	296	cd05057	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	314	cd05103	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	363	cd05054	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	312	cd05102	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	371	cd07830	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	458	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	675	smart00219	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	444	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	230	cd05589	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	983	smart00221	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	330	cd07838	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	256	cd05035	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	260	cd05075	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	246	cd05074	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	267	cd05099	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	284	cd05053	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	272	cd07851	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	251	cd06633	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	268	cd05100	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	376	cd05107	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	374	cd05105	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	273	cd05098	10862703,NP_066124
5979	547807	Disease	p.Arg982Cys	164761.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	255	cd06635	10862703,NP_066124
5979	10862701	Disease	p.Ala45Ala	164761.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	NULL
5979	547807	Disease	p.Ala45Ala	164761.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	10862703,NP_066124
5979	10862701	Disease	p.Arg114His	164761.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	OMIM	No Domain	N/A	NULL
5979	547807	Disease	p.Arg114His	164761.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	OMIM	No Domain	N/A	10862703,NP_066124
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	313	cd06650	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	291	cd05584	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	289	cd05605	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	521	cd07834	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	308	cd05587	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	286	cd07861	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	305	cd05614	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	291	cd05585	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	306	cd05108	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	314	cd07878	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	304	cd06634	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	314	cd07858	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	314	cd06622	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	1243	COG0515	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	315	cd06649	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	285	cd06659	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	310	cd06607	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	298	cd07873	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	291_G	cd05603	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	294	cd05602	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	295	cd05571	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	294	cd05595	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	300	cd07837	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	298	cd05591	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	297	cd05590	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	290	cd05619	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	311	cd05592	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	308	cd05570	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	290	cd05594	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	289	cd05593	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	296	cd05582	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	307	cd07856	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	302	cd05589	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	356	cd07851	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	308	cd06633	NULL
5979	10862701	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	312	cd06635	NULL
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	278	cd06650	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	291	cd05584	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	289	cd05605	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	521	cd07834	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	303	cd05587	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	286	cd07861	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	305	cd05614	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	291	cd05585	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	306	cd05108	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	314	cd07878	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	304	cd06634	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	314	cd07858	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	1243	COG0515	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	314	cd06622	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	280	cd06649	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	285	cd06659	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	310	cd06607	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	298	cd07873	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	274	cd05571	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	269	cd05602	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	297	cd05590	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	311	cd05592	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	297	cd05595	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	282	cd05593	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	298	cd05591	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	283	cd05594	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	300	cd07837	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	308	cd05570	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	290	cd05619	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	296	cd05582	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	269	cd05603	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	307	cd07856	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	302	cd05589	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	356	cd07851	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	308	cd06633	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	164761.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE	OMIM	312	cd06635	10862703,NP_066124
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd06917	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd08221	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05115	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd06650	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd06612	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd06640	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	59	cd07845	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd06642	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd06641	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd06613	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	166	smart00220	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd06632	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd06631	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd05584	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	53	cd05605	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	51	cd07836	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	66	cd07841	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd08529	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	79	cd07834	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd08225	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd08530	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd08218	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd08223	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	61	cd06628	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	53	cd05587	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	53	cd05631	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd08222	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	58	cd07829	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	68	cd05122	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	114	cd06606	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	61	cd06629	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd06627	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd07861	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	70	cd08528	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd05045	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd06630	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	70	cd08215	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	53	cd05578	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd06651	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd05614	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd05613	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd05583	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd07860	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	46	cd05608	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	46	cd05607	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	46	cd05577	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	141	cd00180	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	95	cd05572	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	46	cd05585	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	47	cd05579	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	75	cd05123	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	73	cd05101	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd08220	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd05108	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	67	cd07878	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	69	cd06656	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	68	cd06634	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	59	cd06645	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	69	cd06655	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	69	cd06647	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	95	cd05106	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	91	cd05104	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd05089	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd05036	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	93	cd05032	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd05062	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	89	cd05056	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	58	cd07858	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd05083	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd05082	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05069	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05072	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05068	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd05039	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05034	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05073	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05067	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd05148	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05070	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd06644	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd05052	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05071	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd05061	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd07839	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd06617	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	147	cd07842	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd06610	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	73	cd06619	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd06621	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd06623	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	53	cd06605	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd06615	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd07832	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	100	cd05581	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	65	cd06609	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd08228	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd06625	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	51	cd08219	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd08229	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	101	cd05580	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd06622	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	294	COG0515	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	69	cd05574	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05612	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	60	cd05088	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd07844	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	61	cd07866	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd05109	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd05111	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd05110	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd06616	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	58	cd05065	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	58	cd05081	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	59	cd05079	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	58	cd05066	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	82	cd05033	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	63	cd05038	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	59	cd05080	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd05112	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd05114	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd05113	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd05059	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	67	cd06638	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	93	cd05055	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd06649	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	121	cd05046	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	61	cd05050	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	72	cd05097	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	72	cd05096	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	61	cd05049	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	75	cd05095	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	94	cd05051	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd06643	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	61	cd05091	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd05048	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	60	cd05090	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd07872	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd06620	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	60	cd05063	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	59	cd05064	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	60	cd05092	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	60	cd05093	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	60	cd05094	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd06611	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd06653	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	53	cd05630	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	75	cd05043	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	53	cd07847	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd06652	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd08216	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd08224	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	69	cd05076	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd07846	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	58	cd07863	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	71	cd06659	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	78	cd06639	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	68	cd06607	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd06626	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd07871	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd07873	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	59	cd07864	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd05044	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	46	cd05084	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05086	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	46	cd05085	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05087	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	51	cd05042	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	47	cd05041	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd05040	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05603	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05602	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05571	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05595	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05118	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	53	cd07837	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05591	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05590	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05619	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05592	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05570	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05047	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05060	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd08217	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	49	cd05116	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd05058	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05594	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	69	cd05037	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	103	cd00192	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd05078	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd05077	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd07835	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05593	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	51	cd05582	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	81	cd06614	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	65	cd07865	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	70	cd06654	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	69	cd06648	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd07856	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	78	cd07840	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	50	cd07831	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	73	cd07833	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd06637	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	80	cd06608	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	66	cd06618	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	58	cd06624	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	111	cd05057	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	63	cd05103	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	63	cd05054	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	63	cd05102	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	85	cd07830	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	87	pfam07714	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	181	smart00219	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	81	pfam00069	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd05589	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	248	smart00221	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd07838	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	64	cd05035	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	53	cd05075	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05074	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	70	cd05099	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	70	cd05053	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	74	cd07851	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	74	cd06633	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	70	cd05100	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	93	cd05107	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	93	cd05105	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	76	cd05098	NULL
5979	10862701	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	78	cd06635	NULL
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd06917	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd08221	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05115	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd06650	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd06612	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd06640	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	59	cd07845	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd06642	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd06641	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd06613	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	166	smart00220	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd06632	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd06631	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd05584	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	53	cd05605	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	51	cd07836	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	66	cd07841	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd08529	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	79	cd07834	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd08225	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd08530	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd08218	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd08223	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	61	cd06628	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	53	cd05631	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	53	cd05587	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd08222	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	58	cd07829	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	68	cd05122	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	114	cd06606	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	61	cd06629	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd06627	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd07861	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	70	cd08528	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd05045	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd06630	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	70	cd08215	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	53	cd05578	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd06651	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd05614	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd05613	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd05583	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd07860	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	46	cd05608	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	46	cd05607	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	46	cd05577	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	141	cd00180	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	95	cd05572	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	46	cd05585	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	47	cd05579	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	75	cd05123	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	73	cd05101	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd08220	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd05108	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	67	cd07878	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	69	cd06656	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	68	cd06634	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	59	cd06645	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	69	cd06655	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	69	cd06647	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	95	cd05106	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	91	cd05104	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd05089	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd05036	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	93	cd05032	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd05062	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	89	cd05056	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	58	cd07858	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd05083	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd05082	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05069	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05072	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05068	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd05039	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05034	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05073	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05067	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd05148	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05070	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd06644	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd05052	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05071	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd05061	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	294	COG0515	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd07839	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd06617	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	147	cd07842	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd06610	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	73	cd06619	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd06621	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd06623	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	53	cd06605	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd06615	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd07832	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	100	cd05581	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	65	cd06609	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd08228	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd06625	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	51	cd08219	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd08229	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	101	cd05580	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd06622	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	69	cd05574	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05612	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	60	cd05088	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd07844	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	61	cd07866	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd05109	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd05111	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd05110	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd06616	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	58	cd05065	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	58	cd05081	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	59	cd05079	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	58	cd05066	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	82	cd05033	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	63	cd05038	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	59	cd05080	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd05112	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd05114	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd05113	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd05059	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	67	cd06638	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	93	cd05055	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	121	cd05046	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	61	cd05050	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	72	cd05096	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	72	cd05097	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	61	cd05049	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	75	cd05095	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	94	cd05051	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd06643	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	61	cd05091	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd05048	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	60	cd05090	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd07872	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd06620	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	60	cd05063	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	59	cd05064	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	60	cd05092	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd06649	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	60	cd05093	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	60	cd05094	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd06611	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd06653	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	53	cd05630	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	75	cd05043	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	53	cd07847	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd06652	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd08216	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd08224	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	69	cd05076	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd07846	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	58	cd07863	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	71	cd06659	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	78	cd06639	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	68	cd06607	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd06626	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd07871	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd07873	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	59	cd07864	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05571	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05602	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05590	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05592	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05595	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05593	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05047	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05060	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd08217	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	49	cd05116	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	69	cd05037	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	103	cd00192	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd05078	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd05077	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05591	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd05044	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	46	cd05084	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05086	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	46	cd05085	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05087	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	51	cd05042	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	47	cd05041	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	52	cd05040	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05118	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05594	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	53	cd07837	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05570	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	56	cd05058	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05619	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	51	cd05582	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	48	cd05603	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd07835	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	81	cd06614	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	65	cd07865	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	70	cd06654	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	69	cd06648	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	62	cd07856	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	78	cd07840	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	50	cd07831	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	73	cd07833	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd06637	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	80	cd06608	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	66	cd06618	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	58	cd06624	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	111	cd05057	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	63	cd05103	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	63	cd05054	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	63	cd05102	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	85	cd07830	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	87	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	181	smart00219	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	81	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	55	cd05589	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	248	smart00221	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	57	cd07838	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	64	cd05035	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	53	cd05075	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	54	cd05074	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	70	cd05099	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	70	cd05053	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	74	cd07851	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	74	cd06633	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	70	cd05100	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	93	cd05107	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	93	cd05105	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	76	cd05098	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	164761.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	78	cd06635	10862703,NP_066124
5979	10862701	Disease	p.Pro198Thr	164761.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	32	pfam00028	NULL
5979	10862701	Disease	p.Pro198Thr	164761.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	40	cd00031	NULL
5979	547807	Disease	p.Pro198Thr	164761.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	32	pfam00028	10862703,NP_066124
5979	547807	Disease	p.Pro198Thr	164761.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164761	RENAL AGENESIS	OMIM	40	cd00031	10862703,NP_066124
5894	125651	Disease	p.Ser257Leu	164760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5||LEOPARD SYNDROME 2	OMIM	66	cd05107	4506401,NP_002871
5894	125651	Disease	p.Pro261Ser	164760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	70	cd05107	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	182	cd06652	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	168_G	cd07845	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	149	cd06642	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	164	cd06655	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	149	cd08216	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	164	cd06647	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	158	cd06653	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	154	cd08228	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	154	cd08229	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	154_G	cd08224	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	191	cd06608	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	151	cd06643	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	154	cd06611	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	173_G	cd07875	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	78	smart00750	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	197_G	cd07829	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	152	cd06630	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	142_G	cd05594	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	148	cd05086	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	142_G	cd05591	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	158_G	cd05592	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	142_G	cd05604	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	154_G	cd05040	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	155	cd05058	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	161	cd05077	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	366_G	cd00192	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	159	cd05078	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	175	cd05037	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	147	cd07839	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	156_G	cd05118	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	156	cd07831	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	198	cd07840	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	142_G	cd05590	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	142_G	cd05588	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	142	cd05085	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	147	cd05084	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	147	cd05041	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	150	cd08221	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	153	cd05087	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	142_G	cd05571	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	142_G	cd05619	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	141_G	cd05595	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	142_G	cd05603	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	143_G	cd05575	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	141_G	cd05593	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	151	cd05042	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	143	cd05116	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	149_G	cd05060	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	144	cd05115	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	166	cd06658	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	214_G	cd05096	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	182	cd05100	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	158	cd06644	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	182	cd05099	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	188	cd05098	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	167_G	cd07850	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	157	cd05109	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	175	cd07838	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	176	cd07854	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	225	cd07830	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	150	cd06626	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	156	cd06631	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	158	cd06651	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	167	cd06618	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	534	smart00220	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	165_G	cd07880	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	185	cd05101	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	173	cd05076	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	165	cd06654	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	288	cd05105	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	183	cd05122	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	147_G	cd05615	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	153	cd05614	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	174_G	cd05045	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	168	cd07832	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	165_G	cd05613	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	153	cd05583	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	193_G	cd07834	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	148	cd07860	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	158	cd06627	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	238	cd06606	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	154	cd08529	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	151	cd07836	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	150	cd05605	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	149_G	cd07861	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	159	cd07863	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	149	cd05616	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	152_G	cd05587	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	154	cd08222	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	150	cd08225	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	157	cd08530	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	219	cd08217	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	171	cd08528	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	149	cd08218	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	156	cd06628	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	148	cd08219	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	150	cd08223	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	151_G	cd07853	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	157	cd07857	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	167	cd07837	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	151	cd06613	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	148_G	cd07846	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	174_G	cd07833	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	151	cd07870	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	149	cd06640	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	154	cd07847	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	151	cd07869	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	149	cd06641	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	149	cd05623	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	172	cd06638	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	155	cd05064	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	156	cd06620	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	166_G	cd05093	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	154	cd06646	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	210	cd05057	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	164	cd06656	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	156	cd05063	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	178_G	cd05049	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	236	cd05046	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	218	cd05051	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	178_G	cd05097	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	181	cd05050	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	171	cd05094	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	176	cd05048	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	172	cd05091	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	171_G	cd05090	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	168_G	cd05092	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	290	cd05107	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	296	cd05055	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	157	cd07858	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	167	cd05089	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	168	cd05061	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	182_G	cd05056	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	153	cd05148	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	158	cd07849	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	152	cd05052	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	169	cd05036	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	159	cd06637	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	211_G	cd05032	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	167	cd05062	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	150	cd05071	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	153_G	cd05039	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	156	cd05034	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	150	cd05067	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	151	cd05072	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	150	cd05069	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	151	cd05073	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	153	cd05068	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	148	cd05083	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	150	cd05082	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	150	cd05070	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	272	cd05104	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	151_G	cd06617	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	167	cd06605	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	158	cd07862	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	180	cd05574	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	668	COG0515	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	197	cd06623	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	160	cd06610	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	148_G	cd05612	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	149	cd05609	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	164	cd06619	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	164	cd06622	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	264	cd05581	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	148_G	cd06615	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	172	cd06609	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	150	cd05601	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	203	cd05580	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	152	cd07872	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	226	cd05102	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	228	cd05103	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	151	cd07871	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	172	cd05088	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	152	cd07844	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	166	cd07864	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	152	cd07873	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	179	cd07866	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	166_G	cd07843	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	175	cd07835	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	170_G	cd05035	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	160_G	cd05074	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	175	cd05075	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	148_G	cd05589	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	156_G	cd06621	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	150	cd05631	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	149_G	cd05632	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	150	cd05630	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	159	cd05080	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	164_G	cd07841	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	626	smart00221	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	259	pfam00069	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	323	pfam07714	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	462	smart00219	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	150_G	cd05584	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	145_G	cd05582	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	157	cd05108	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	147_G	cd05113	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	149_G	cd05059	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	146_G	cd05112	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	150	cd05114	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	157	cd05111	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	169	cd06616	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	154	cd05066	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	154	cd05065	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	156	cd05081	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	157	cd05079	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	180	cd05038	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	186	cd05033	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	157	cd05110	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	200	cd06614	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	193	cd05043	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	156	cd07856	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	158	cd07852	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	189	cd05095	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	169	cd06636	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	163	cd06612	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	142_G	cd05602	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	145	cd05633	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	156_G	cd06629	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	149	cd05578	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	145_G	cd05570	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	144	cd05579	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	148	cd05577	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	448	cd00180	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	142_G	cd05617	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	215_G	cd05572	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	145	cd05608	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	143	cd05607	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	146	cd05606	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	208	cd08215	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	158	cd06625	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	165	cd05044	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	159	cd08220	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	139_G	cd05585	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	160	cd05047	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	664	cd05123	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	167	cd06632	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	150	cd08226	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	159	cd06917	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	258	cd07842	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	173	cd06635	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	164	cd06657	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	169	cd06633	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	270	cd05106	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	159	cd06645	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	164	cd06648	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	172	cd07865	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	197_G	cd05053	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	183	cd06639	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	165	cd06659	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	163	cd06634	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	163	cd06607	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	166	cd07878	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	160	cd06624	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	164760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	NOONAN SYNDROME 5	OMIM	181_G	cd07851	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	287	cd06652	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	297	cd07845	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	255	cd06642	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	271	cd06655	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	317	cd08216	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	271	cd06647	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	264	cd06643	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	318_G	cd07875	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	272	smart00750	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	267	cd06630	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	298	cd05594	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	271	cd05591	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	289	cd05592	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	267	cd05604	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	285	cd07839	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	310	cd05118	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	299	cd07831	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	419	cd07840	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	275	cd05590	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	304	cd05588	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	298	cd05571	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	283	cd05619	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	293	cd05595	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	285	cd05603	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	287	cd05575	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	267	cd05593	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	274	cd06658	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	308	cd05100	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	271	cd06644	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	290	cd05099	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	300	cd05098	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	320	cd07850	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	272	cd05109	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	331	cd07854	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	307	cd06626	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	266	cd06631	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	263	cd06651	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	284	cd06618	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	301	cd07880	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	297	cd05101	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	272	cd06654	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	278	cd05615	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	283	cd05614	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	297	cd07832	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	283	cd05613	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	272	cd05583	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	476	cd07834	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	283	cd07860	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	302	cd06627	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	429	cd06606	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	276	cd07836	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	283	cd05605	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	274	cd07861	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	275_G	cd07863	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	278	cd05616	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	286	cd05587	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	354	cd07853	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	341	cd07857	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	301	cd07837	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	288	cd07846	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	279	cd07870	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	261	cd06640	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	278	cd07847	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	275	cd07869	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	255	cd06641	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	299	cd05623	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	285	cd06638	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	332	cd06620	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	283	cd05093	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	326	cd05057	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	271	cd06656	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	327	cd05094	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	285	cd05092	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	313	cd07858	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	280	cd05089	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	280	cd05061	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	301	cd05056	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	352	cd07849	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	276	cd06617	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	340	cd06605	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	278	cd07862	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	1241	COG0515	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	340	cd06623	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	291	cd06610	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	272	cd05612	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	309	cd05609	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	291	cd06619	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	289	cd06622	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	286	cd06615	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	294	cd06609	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	287	cd05601	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	341	cd05580	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	280	cd07872	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	269	cd07871	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	285	cd05088	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	271	cd07844	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	287	cd07864	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	273_G	cd07873	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	339	cd07843	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	297	cd07835	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	300	cd05589	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	275_G	cd06621	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	263	cd05631	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	264	cd05632	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	263	cd05630	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	349	cd07841	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	1082	smart00221	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	295	cd05584	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	270	cd05582	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	282	cd05108	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	272	cd05111	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	281	cd06616	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	286	cd05110	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	308_G	cd06614	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	290	cd07856	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	318	cd07852	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	285	cd05602	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	272	cd05633	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	277	cd06629	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	289	cd05578	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	286	cd05570	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	300	cd05617	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	260	cd05608	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	258	cd05607	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	274	cd05606	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	264	cd05585	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	280_G	cd06632	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	295	cd08226	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	277_G	cd06917	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	437	cd07842	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	279	cd06635	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	273	cd06657	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	275	cd06633	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	311	cd05053	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	296	cd06639	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	279	cd06659	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	276	cd06634	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	275	cd06607	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	320	cd07878	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	164760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164760	LEOPARD SYNDROME 2||NOONAN SYNDROME 5	OMIM	326	cd07851	4506401,NP_002871
673	50403720	Disease	p.Ala246Pro	164757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	pfam00130	33188459,NP_004324
673	50403720	Disease	p.Ala246Pro	164757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	22	smart00109	33188459,NP_004324
673	50403720	Disease	p.Ala246Pro	164757.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	18	cd00029	33188459,NP_004324
673	50403720	Disease	p.Gln257Arg	164757.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	pfam00130	33188459,NP_004324
673	50403720	Disease	p.Gln257Arg	164757.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	smart00109	33188459,NP_004324
673	50403720	Disease	p.Gln257Arg	164757.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	39	cd00029	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	29	cd05101	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd06633	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd06623	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd06622	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	21	cd07845	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd06621	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	16	cd06609	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd06619	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd05612	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd06617	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd07871	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd07862	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd07870	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd07847	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd07844	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd07842	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd07872	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd05580	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd06615	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd05573	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd05609	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd07873	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	16	cd08228	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	COG0515	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd06605	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	16	cd08224	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	16	cd08229	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd06626	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd07868	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd07867	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	10	cd05584	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd06632	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	26	cd05053	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	21	cd05043	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	13	cd05035	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	13	cd05074	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	13	cd05075	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd07854	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	13	cd07835	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	13	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	13	smart00219	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	17	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	13	smart00221	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	13	cd05589	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	18	cd05080	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	18	cd06642	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	18	cd06641	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	17	cd06613	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	18	cd06640	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	17	cd06612	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd06639	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd06654	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05055	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	23	cd06646	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	23	cd06645	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd05098	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	29	cd06618	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	7	cd05608	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	7	cd05607	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	7	cd05579	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	7	cd05572	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	7	cd05585	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	10	cd00180	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	8	cd05606	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd08221	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	7	cd05577	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	8	cd05633	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd07846	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	7	cd05123	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd07843	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd07833	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	16	cd07834	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	16	cd06625	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	13	cd07830	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd07829	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd06917	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd05630	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	21	cd05122	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd05632	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05105	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05107	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd05064	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd05063	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd05094	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd05093	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd06620	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd05095	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd05097	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd05046	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd05050	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	27	cd05051	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd05096	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd05049	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd05090	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd05091	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd05048	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd05092	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd05057	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	16	cd06652	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd08226	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	16	cd08216	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	16	cd06653	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	21	cd07852	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd06658	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd06614	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05106	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd05061	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd05052	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	21	cd07864	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	24	cd07856	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd05083	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd05148	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd07849	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	22	cd05032	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd05036	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd06637	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	22	cd06624	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd05062	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd07858	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd05073	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd05039	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd05034	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd05082	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd05070	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd05072	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd05067	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd05068	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd05069	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd05056	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	16	cd05089	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd05071	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	18	cd06616	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05115	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05104	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	30	cd07850	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	26	cd05100	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	26	cd05099	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd05038	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	18	cd05033	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	18	cd05065	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	18	cd05079	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	18	cd05066	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	18	cd05113	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	18	cd05114	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	18	cd05112	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	18	cd05059	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	21	cd05108	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	21	cd05110	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	21	cd05109	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	21	cd05111	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd07869	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	29	cd07880	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	29	cd07851	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd06638	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	26	cd06644	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	3	smart00220	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd06656	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd06655	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd06647	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05040	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	18	cd05081	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05086	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05058	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05042	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05078	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05037	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05077	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd00192	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05116	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05619	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05592	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05620	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	13	cd07831	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05571	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd07837	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	18	cd05574	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05617	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd07839	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	13	cd05118	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	17	cd07840	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05594	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05570	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05593	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05595	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05602	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	10	cd05582	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05604	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05084	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05044	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05041	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05087	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05085	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd08217	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05590	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05603	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05575	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05591	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05588	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05047	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	9	cd05060	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd06643	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	23	cd07866	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	20	cd06608	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	19	cd06611	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	26	cd07865	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	22	cd05581	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd06610	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd05623	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd05045	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd05583	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd05613	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd06630	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd07859	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd07857	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd05605	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd07841	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	21	cd06606	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd05631	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd07832	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd06629	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd05616	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd07836	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd07861	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd07860	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd07863	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	16	cd06651	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	15	cd06627	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd05614	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd05615	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd08225	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd08222	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd08219	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd06631	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd08215	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd08223	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd08530	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd08528	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd08218	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd06628	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd08220	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd05587	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd07853	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd05578	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	39	cd06635	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	30	cd06636	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd07877	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd06648	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd06659	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	13	cd07838	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd06657	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	29	cd06634	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	29	cd06607	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	21	cd05103	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	21	cd05102	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	21	cd05088	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	164757.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	14	cd08529	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd05101	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd06633	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	42	cd06623	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd06622	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd07845	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd06621	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd06609	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd06619	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd05612	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd06617	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd07871	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd07862	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd07870	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd07847	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd07844	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	46	cd07842	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	39	cd07872	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	81	cd05580	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd06615	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05573	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd05609	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	39	cd07873	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd08228	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	200	COG0515	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd06605	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd08224	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd08229	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd06626	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd07868	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd07867	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd05584	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd06632	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05053	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05043	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05035	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd05074	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd05075	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd07854	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd07835	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	42	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	131	smart00219	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	150	smart00221	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd05589	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	41	cd05080	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37	cd06642	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37	cd06641	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd06613	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37	cd06640	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd06612	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd06639	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd06654	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd05055	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	42	cd06646	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	39	cd06645	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd05098	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd06618	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	26	cd05608	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	26	cd05607	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	26	cd05579	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd05572	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	23	cd05585	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd00180	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	27	cd05606	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd08221	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	26	cd05577	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	27	cd05633	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd07846	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	29	cd05123	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37_G	cd07843	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37	cd07833	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd07834	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd06625	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd07830	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd07829	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd06917	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd05630	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd05122	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	cd05632	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd05105	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd05107	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	41	cd05064	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	42	cd05063	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05094	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05093	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd06620	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05095	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd05097	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	103	cd05046	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05050	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd05051	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd05096	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05049	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	42	cd05090	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05091	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	44	cd05048	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05092	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd05057	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd06652	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd08226	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd08216	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd06653	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	41	cd07852	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd06658	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd06614	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	77	cd05106	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	44	cd05061	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	39	cd05052	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd07864	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd07856	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37	cd05083	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	39	cd05148	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd07849	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd05032	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	44	cd05036	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd06637	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	39	cd06624	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	44	cd05062	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	39	cd07858	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd05073	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37	cd05039	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd05034	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37	cd05082	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd05070	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd05072	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd05067	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd05068	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd05069	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05056	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37	cd05089	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd05071	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37	cd06616	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	30	cd05115	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd05104	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd07850	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05100	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05099	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05038	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd05033	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	40	cd05065	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	41	cd05079	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	40	cd05066	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd05113	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd05114	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd05112	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd05059	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	44	cd05108	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	44	cd05110	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	44	cd05109	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	44	cd05111	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd07869	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd07880	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd07851	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd06638	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	42	cd06644	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	smart00220	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06656	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06655	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06647	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd05040	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	41	cd05081	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	30	cd05086	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd05058	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd05042	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	cd05078	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05037	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37	cd05077	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd00192	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	30	cd05116	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	cd05619	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	cd05592	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	cd05620	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd07831	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	cd05571	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd07837	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	41	cd05574	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	25	cd05617	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd07839	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd05118	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd07840	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	cd05594	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	cd05570	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	cd05593	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	cd05595	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	cd05602	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd05582	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	cd05604	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	cd05084	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd05044	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	cd05041	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	30	cd05087	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	cd05085	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd08217	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	cd05590	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	cd05603	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	cd05575	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	28	cd05591	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	25	cd05588	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	30	cd05047	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd05060	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd06643	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	42	cd07866	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	40	cd06608	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	39	cd06611	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	46	cd07865	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd05581	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd06610	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd05623	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd05045	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd05583	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd05613	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37	cd06630	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd07859	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34_G	cd07857	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd05605	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd07841	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	46	cd06606	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd05631	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd07832	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd06629	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd05616	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd07836	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd07861	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd07860	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd07863	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd06651	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd06627	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd05614	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd05615	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd08225	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	37	cd08222	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	31	cd08219	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	32	cd06631	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd08215	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd08223	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd08530	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd08528	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd08218	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd06628	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd08220	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd05587	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	34	cd07853	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd05578	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd06635	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd06636	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd07877	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06648	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd06659	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	35	cd07838	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd06657	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd06634	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd06607	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05103	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05102	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	42	cd05088	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	164757.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	33	cd08529	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd05101	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd06633	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd06623	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd06622	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd07845	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd06621	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd06609	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68_G	cd06619	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05612	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47_G	cd06617	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd07871	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd07862	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd07870	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd07847	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd07844	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	114	cd07842	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd07872	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	96	cd05580	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47_G	cd06615	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	74	cd05573	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd05609	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd07873	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd08228	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	277	COG0515	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd06605	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd08224	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd08229	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd06626	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd07868	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd07867	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05584	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd06632	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05053	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd05043	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05035	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05074	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd05075	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd07854	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd07835	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	176	smart00219	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	81	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	242	smart00221	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd05589	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd05080	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd06642	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd06641	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd06613	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd06640	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd06612	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd06639	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd06654	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd05055	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd06646	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd06645	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd05098	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd06618	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	41	cd05608	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	40	cd05607	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	42	cd05579	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	90	cd05572	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	41	cd05585	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	136	cd00180	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	41	cd05606	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd08221	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	41_G	cd05577	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	41	cd05633	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd07846	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd05123	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd07843	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd07833	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd07834	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06625	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	81	cd07830	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd07829	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd06917	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd05630	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd05122	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	42	cd05632	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd05105	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd05107	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd05064	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd05063	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd05094	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd05093	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06620	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd05095	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05097	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	116	cd05046	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05050	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	89	cd05051	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05096	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05049	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd05090	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05091	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05048	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd05092	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	106	cd05057	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06652	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd08226	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd08216	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06653	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	46	cd07852	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd06658	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	76	cd06614	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	90	cd05106	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05061	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd05052	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd07864	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd07856	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd05083	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05148	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd07849	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd05032	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05036	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd06637	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd06624	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05062	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd07858	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05073	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05039	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05034	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd05082	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05070	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05072	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05067	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05068	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05069	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd05056	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd05089	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05071	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd06616	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	44	cd05115	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd05104	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd07850	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05100	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05099	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd05038	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	77	cd05033	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd05065	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd05079	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd05066	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd05113	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd05114	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd05112	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd05059	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05108	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05110	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05109	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05111	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd07869	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd07880	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd07851	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd06638	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd06644	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	159	smart00220	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd06656	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd06655	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd06647	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd05040	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd05081	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05086	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05058	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	46	cd05042	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd05078	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd05037	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05077	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	98	cd00192	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	44	cd05116	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05619	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05592	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05620	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45_G	cd07831	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	42	cd05571	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd07837	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd05574	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	36	cd05617	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd07839	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd05118	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd07840	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	42	cd05594	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05570	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	42	cd05593	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	42	cd05595	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05602	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	46	cd05582	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05604	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	41	cd05084	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd05044	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	42	cd05041	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05087	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	41	cd05085	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd08217	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05590	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05603	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05575	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05591	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05588	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05047	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05060	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd06643	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd07866	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd06608	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd06611	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd07865	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	95	cd05581	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd06610	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05623	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05045	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05583	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05613	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd06630	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd07859	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	40	cd07857	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd05605	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	41	cd07841	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	109	cd06606	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd05631	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd07832	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd06629	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd05616	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd07836	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd07861	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd07860	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd07863	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06651	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06627	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05614	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd05615	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd08225	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd08222	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	46	cd08219	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd06631	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd08215	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd08223	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd08530	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd08528	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd08218	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd06628	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd08220	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd05587	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	44	cd07853	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd05578	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd06635	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd06636	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd07877	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd06648	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06659	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd07838	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd06657	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd06634	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd06607	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd05103	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd05102	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd05088	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	164757.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd08529	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd05101	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd06633	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd06623	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd06622	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd07845	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06621	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd06609	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd06619	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05612	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd06617	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd07871	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd07862	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd07870	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd07847	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd07844	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	144	cd07842	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd07872	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	98	cd05580	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd06615	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	76	cd05573	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05609	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd07873	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd08228	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	279	COG0515	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd06605	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd08224	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd08229	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06626	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd07868	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd07867	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd05584	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd06632	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05053	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd05043	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05035	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05074	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd05075	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd07854	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd07835	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	78	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	178	smart00219	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	244	smart00221	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05589	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05080	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06642	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06641	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06613	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06640	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd06612	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd06639	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd06654	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	90	cd05055	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd06646	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd06645	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd05098	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd06618	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05608	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05607	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	44	cd05579	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd05572	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05585	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	138	cd00180	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	44	cd05606	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd08221	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05577	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	44	cd05633	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd07846	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd05123	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd07843	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd07833	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd07834	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd06625	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd07830	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd07829	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd06917	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd05630	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05122	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd05632	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	90	cd05105	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	90	cd05107	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05064	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05063	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05094	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05093	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd06620	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd05095	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05097	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	118	cd05046	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd05050	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	91	cd05051	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05096	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd05049	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05090	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd05091	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05048	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05092	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	108	cd05057	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd06652	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd08226	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd08216	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd06653	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd07852	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd06658	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	78	cd06614	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd05106	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05061	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05052	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd07864	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd07856	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05083	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd05148	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd07849	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	90	cd05032	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05036	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06637	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd06624	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05062	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd07858	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05073	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd05039	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05034	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05082	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05070	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05072	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05067	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05068	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05069	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd05056	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05089	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05071	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd06616	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05115	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd05104	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd07850	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05100	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05099	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05038	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd05033	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd05065	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05079	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd05066	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05113	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05114	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05112	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05059	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05108	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05110	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05109	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05111	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd07869	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd07880	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd07851	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd06638	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd06644	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	162	smart00220	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06656	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06655	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06647	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05040	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd05081	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05086	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd05058	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd05042	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05078	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05037	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd05077	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	100	cd00192	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	46	cd05116	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd05619	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd05592	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd05620	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd07831	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05571	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd07837	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05574	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd05617	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd07839	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05118	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd07840	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05594	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05570	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05593	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05595	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05602	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd05582	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05604	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05084	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05044	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	44	cd05041	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05087	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05085	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd08217	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05590	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05603	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05575	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05591	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05588	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05047	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05060	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06643	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd07866	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	77	cd06608	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd06611	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd07865	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	97	cd05581	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd06610	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05623	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd05045	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd05583	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd05613	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd06630	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd07859	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	42	cd07857	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd05605	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd07841	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	111	cd06606	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd05631	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd07832	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd06629	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05616	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd07836	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd07861	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd07860	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd07863	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd06651	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd06627	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd05614	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05615	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd08225	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd08222	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd08219	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06631	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd08215	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd08223	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd08530	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd08528	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd08218	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd06628	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd08220	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05587	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd07853	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd05578	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd06635	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd06636	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd07877	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06648	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06659	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd07838	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd06657	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd06634	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd06607	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05103	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05102	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05088	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	164757.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd08529	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd05101	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd06633	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd06623	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd06622	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd07845	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06621	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd06609	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd06619	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05612	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd06617	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd07871	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd07862	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd07870	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd07847	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd07844	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	144	cd07842	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd07872	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	98	cd05580	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd06615	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	76	cd05573	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05609	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd07873	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd08228	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	279	COG0515	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd06605	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd08224	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd08229	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06626	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd07868	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd07867	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd05584	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd06632	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05053	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd05043	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	61	cd05035	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05074	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd05075	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd07854	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd07835	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	78	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	178	smart00219	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	244	smart00221	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05589	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05080	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06642	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06641	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06613	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06640	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd06612	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd06639	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd06654	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	90	cd05055	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd06646	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd06645	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	73	cd05098	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd06618	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05608	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05607	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	44	cd05579	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd05572	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05585	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	138	cd00180	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	44	cd05606	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd08221	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05577	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	44	cd05633	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd07846	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd05123	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd07843	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	70	cd07833	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd07834	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd06625	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd07830	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd07829	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd06917	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd05630	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd05122	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd05632	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	90	cd05105	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	90	cd05107	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05064	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05063	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05094	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05093	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd06620	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	72	cd05095	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05097	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	118	cd05046	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd05050	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	91	cd05051	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd05096	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd05049	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05090	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd05091	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05048	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05092	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	108	cd05057	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd06652	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd08226	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd08216	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd06653	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd07852	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	69	cd06658	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	78	cd06614	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd05106	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05061	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05052	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd07864	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd07856	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05083	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd05148	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd07849	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	90	cd05032	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05036	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06637	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd06624	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05062	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd07858	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05073	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd05039	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05034	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05082	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05070	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05072	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05067	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05068	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05069	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd05056	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05089	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05071	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd06616	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05115	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd05104	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd07850	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05100	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd05099	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05038	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd05033	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd05065	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	56	cd05079	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd05066	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05113	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05114	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05112	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05059	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05108	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05110	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05109	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd05111	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd07869	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	64	cd07880	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	71	cd07851	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd06638	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	cd06644	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	162	smart00220	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06656	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06655	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06647	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05040	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	55	cd05081	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05086	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd05058	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd05042	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05078	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05037	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd05077	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	100	cd00192	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	46	cd05116	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd05619	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd05592	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd05620	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	47	cd07831	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05571	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd07837	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd05574	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	38	cd05617	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd07839	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05118	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd07840	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05594	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05570	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05593	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05595	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05602	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd05582	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05604	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05084	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd05044	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	44	cd05041	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05087	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	43	cd05085	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd08217	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05590	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05603	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05575	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05591	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05588	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	45	cd05047	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05060	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06643	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd07866	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	77	cd06608	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd06611	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd07865	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	97	cd05581	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd06610	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd05623	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd05045	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd05583	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd05613	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd06630	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd07859	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	42	cd07857	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd05605	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	63	cd07841	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	111	cd06606	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd05631	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd07832	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd06629	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05616	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd07836	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd07861	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd07860	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd07863	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd06651	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd06627	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd05614	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05615	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd08225	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd08222	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	48	cd08219	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd06631	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd08215	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd08223	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd08530	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd08528	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd08218	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	58	cd06628	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	51	cd08220	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	52	cd05587	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	49	cd07853	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	50	cd05578	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	75	cd06635	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	62	cd06636	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd07877	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	66	cd06648	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	68	cd06659	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	54	cd07838	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	67	cd06657	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd06634	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	65	cd06607	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05103	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	60	cd05102	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	57	cd05088	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	164757.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	53	cd08529	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	167	cd05101	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	151	cd06633	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	178	cd06623	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	145	cd06622	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	151	cd07845	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	140	cd06621	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	153	cd06609	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	146	cd06619	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	131	cd05612	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	135	cd06617	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	133	cd07871	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	140	cd07862	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	133	cd07870	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	136	cd07847	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	134	cd07844	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	234	cd07842	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	134	cd07872	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	184	cd05580	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	132	cd06615	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	187	cd05573	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	131	cd05609	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	134	cd07873	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	136	cd08228	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	587	COG0515	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	148	cd06605	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	137	cd08224	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	136	cd08229	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	132	cd06626	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	138	cd07868	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	138	cd07867	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	134	cd05584	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	149	cd06632	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	180	cd05053	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	172	cd05043	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	153	cd05035	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	143	cd05074	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	157	cd05075	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	156	cd07854	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	156	cd07835	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	221	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	427	smart00219	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	286	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	542	smart00221	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	131	cd05589	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	137	cd05080	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	131	cd06642	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	131	cd06641	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	133	cd06613	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	131	cd06640	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	145	cd06612	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	165	cd06639	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	146	cd06654	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	269	cd05055	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	136	cd06646	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	136	cd06645	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	170	cd05098	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	149	cd06618	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	127	cd05608	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	125	cd05607	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	126	cd05579	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	198	cd05572	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	123	cd05585	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	371	cd00180	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	128	cd05606	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	132	cd08221	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	130	cd05577	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	127	cd05633	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	131	cd07846	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	646	cd05123	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	148	cd07843	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	152	cd07833	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	173	cd07834	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	136	cd06625	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	182	cd07830	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	170	cd07829	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	140	cd06917	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	132	cd05630	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	164	cd05122	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	132	cd05632	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	270	cd05105	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	272	cd05107	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	137	cd05064	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	138	cd05063	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	153	cd05094	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	150	cd05093	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	136	cd06620	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	171	cd05095	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	161	cd05097	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	216	cd05046	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	163	cd05050	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	191	cd05051	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	186	cd05096	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	157	cd05049	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	154	cd05090	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	154	cd05091	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	157	cd05048	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	152	cd05092	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	192	cd05057	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	160	cd06652	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	131	cd08226	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	133	cd08216	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	136	cd06653	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	139	cd07852	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	148	cd06658	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	182	cd06614	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	252	cd05106	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	150	cd05061	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	134	cd05052	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	148	cd07864	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	138	cd07856	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	130	cd05083	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	135	cd05148	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	140	cd07849	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	194	cd05032	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	148	cd05036	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	141	cd06637	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	143	cd06624	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	149	cd05062	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	139	cd07858	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	133	cd05073	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	136	cd05039	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	133	cd05034	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	132	cd05082	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	132	cd05070	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	133	cd05072	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	132	cd05067	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	135	cd05068	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	132	cd05069	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	166	cd05056	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	149	cd05089	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	132	cd05071	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	59	smart00750	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	145	cd06616	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	125	cd05115	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	254	cd05104	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	150	cd07850	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	164	cd05100	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	164	cd05099	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	158	cd05038	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	168	cd05033	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	136	cd05065	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	139	cd05079	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	136	cd05066	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	131	cd05113	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	130	cd05114	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	130	cd05112	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	132	cd05059	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	139	cd05108	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	139	cd05110	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	139	cd05109	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	139	cd05111	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	133	cd07869	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	148	cd07880	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	164	cd07851	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	154	cd06638	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	140	cd06644	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	432	smart00220	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	145	cd06656	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	145	cd06655	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	145	cd06647	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	134	cd05040	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	138	cd05081	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	130	cd05086	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	135	cd05058	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	133	cd05042	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	132	cd05078	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	149	cd05037	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	135	cd05077	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	339	cd00192	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	125	cd05116	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	126	cd05619	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	141	cd05592	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	141	cd05620	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	131	cd07831	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	126	cd05571	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	148	cd07837	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	153	cd05574	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	126	cd05617	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	129	cd07839	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	139	cd05118	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	179	cd07840	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	126	cd05594	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	128	cd05570	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	125	cd05593	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	125	cd05595	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	126	cd05602	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	128	cd05582	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	126	cd05604	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	124	cd05084	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	140	cd05044	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	126	cd05041	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	135	cd05087	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	124	cd05085	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	162	cd08217	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	126	cd05590	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	126	cd05603	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	126	cd05575	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	126	cd05591	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	126	cd05588	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	142	cd05047	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	132	cd05060	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	133	cd06643	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	161	cd07866	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	173	cd06608	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	135	cd06611	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	154	cd07865	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	246	cd05581	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	142	cd06610	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	132	cd05623	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	157	cd05045	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	135	cd05583	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	148	cd05613	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	133	cd06630	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	133	cd07859	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	139	cd07857	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	132	cd05605	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	147	cd07841	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	211	cd06606	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	132	cd05631	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	145	cd07832	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	140	cd06629	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	131	cd05616	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	133	cd07836	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	132	cd07861	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	130	cd07860	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	141	cd07863	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	136	cd06651	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	137	cd06627	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	135	cd05614	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	131	cd05615	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	131	cd08225	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	137	cd08222	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	130	cd08219	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	134	cd06631	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	173	cd08215	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	132	cd08223	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	136	cd08530	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	153	cd08528	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	131	cd08218	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	138	cd06628	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	140	cd08220	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	136	cd05587	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	134	cd07853	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	131	cd05578	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	155	cd06635	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	151	cd06636	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	150	cd07877	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	146	cd06648	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	147	cd06659	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	156	cd07838	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	146	cd06657	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	145	cd06634	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	145	cd06607	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	210	cd05103	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	208	cd05102	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	154	cd05088	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	164757.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	136	cd08529	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	105	cd05101	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	105	cd06633	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	108	cd06623	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd06622	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd07845	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd06621	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	99	cd06609	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	104	cd06619	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd05612	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd06617	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86_G	cd07871	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	93	cd07862	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	87	cd07870	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83_G	cd07847	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86_G	cd07844	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	183	cd07842	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	87_G	cd07872	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	133	cd05580	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd06615	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	139	cd05573	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd05609	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	87_G	cd07873	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd08228	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	432	COG0515	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd06605	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	87	cd08224	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd08229	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd06626	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83_G	cd07868	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83_G	cd07867	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd05584	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	103	cd06632	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	118	cd05053	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	129	cd05043	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	102	cd05035	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	91	cd05074	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	90	cd05075	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	100	cd07854	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	89_G	cd07835	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	140	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	248	smart00219	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	135	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	376	smart00221	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd05589	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd05080	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd06642	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd06641	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd06613	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd06640	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	95	cd06612	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	115	cd06639	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	101	cd06654	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	125	cd05055	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	90	cd06646	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	90	cd06645	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	109	cd05098	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	97	cd06618	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	77	cd05608	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	77	cd05607	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd05579	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	126	cd05572	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	77	cd05585	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	251	cd00180	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd05606	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd08221	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd05577	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	81	cd05633	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84_G	cd07846	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	120	cd05123	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	97_G	cd07843	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	105_G	cd07833	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	123_G	cd07834	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	90	cd06625	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	125	cd07830	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	110_G	cd07829	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd06917	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd05630	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	108	cd05122	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd05632	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	146	cd05105	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	151	cd05107	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	90	cd05064	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	91	cd05063	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	91	cd05094	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	91	cd05093	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88_G	cd06620	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	106	cd05095	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	103	cd05097	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	152	cd05046	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	109	cd05050	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	126	cd05051	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	103	cd05096	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	94	cd05049	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	91	cd05090	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd05091	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	93	cd05048	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	91	cd05092	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	142	cd05057	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	114	cd06652	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd08226	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd08216	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	90	cd06653	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd07852	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	103	cd06658	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	114	cd06614	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	155	cd05106	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	94	cd05061	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd05052	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	89	cd07864	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	93	cd07856	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd05083	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	87	cd05148	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd07849	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	127	cd05032	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	93	cd05036	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	93	cd06637	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	94	cd06624	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	94	cd05062	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd07858	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd05073	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd05039	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd05034	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd05082	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd05070	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd05072	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd05067	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd05068	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd05069	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	119	cd05056	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	87	cd05089	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd05071	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd06616	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	78	cd05115	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	124	cd05104	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	94	cd07850	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	102	cd05100	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	103	cd05099	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	102	cd05038	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	113	cd05033	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	89	cd05065	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd05079	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	89	cd05066	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd05113	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd05114	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd05112	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd05059	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd05108	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd05110	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd05109	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd05111	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	87	cd07869	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	103	cd07880	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	113	cd07851	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	104	cd06638	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	93	cd06644	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	309	smart00220	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	100	cd06656	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	100	cd06655	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	100	cd06647	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd05040	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	91	cd05081	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd05086	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd05058	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd05042	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd05078	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	100	cd05037	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd05077	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	146	cd00192	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd05116	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd05619	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd05592	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd05620	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd07831	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd05571	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	96_G	cd07837	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	105	cd05574	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd05617	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82_G	cd07839	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	91_G	cd05118	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	127	cd07840	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd05594	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd05570	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd05593	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd05595	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd05602	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd05582	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd05604	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	77	cd05084	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd05044	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	78	cd05041	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	79	cd05087	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	77	cd05085	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd08217	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd05590	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd05603	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd05575	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd05591	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd05588	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	80	cd05047	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd05060	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd06643	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	95	cd07866	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	123	cd06608	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd06611	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	107_G	cd07865	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	136	cd05581	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd06610	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd05623	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	102	cd05045	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	89	cd05583	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	89	cd05613	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	87	cd06630	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	87_G	cd07859	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd07857	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd05605	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	93_G	cd07841	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	159	cd06606	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd05631	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	96	cd07832	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd06629	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd05616	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	81_G	cd07836	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83_G	cd07861	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82_G	cd07860	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	93	cd07863	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	90	cd06651	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	89	cd06627	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	89	cd05614	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd05615	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd08225	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	87	cd08222	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	82	cd08219	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd06631	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	110	cd08215	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd08223	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	86	cd08530	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	102	cd08528	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	83	cd08218	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd06628	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	85	cd08220	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	90	cd05587	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88_G	cd07853	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	84	cd05578	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	109	cd06635	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	103	cd06636	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	94	cd07877	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	100	cd06648	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	102	cd06659	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	107_G	cd07838	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	101	cd06657	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	99	cd06634	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	99	cd06607	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	123	cd05103	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	96	cd05102	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	92	cd05088	33188459,NP_004324
673	50403720	Disease	p.Gly534Arg	164757.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	88	cd08529	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	221	cd05101	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	202	cd06633	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	241	cd06623	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	207	cd06622	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	206	cd07845	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	191	cd06621	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	213	cd06609	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	196	cd06619	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	180	cd05612	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	190	cd06617	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	186	cd07871	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	192	cd07862	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	186	cd07870	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	190	cd07847	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	187	cd07844	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	298	cd07842	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	187	cd07872	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	245	cd05580	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	182	cd06615	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	327	cd05573	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	199	cd05609	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	187	cd07873	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	188	cd08228	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	874	COG0515	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	206	cd06605	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	189	cd08224	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	188	cd08229	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	229	cd06626	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	198	cd07868	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	198	cd07867	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	186	cd05584	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	208	cd06632	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	234	cd05053	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	229	cd05043	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	207	cd05035	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	197	cd05074	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	211	cd05075	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	213	cd07854	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	210	cd07835	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	334	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	571	smart00219	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	379	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	837	smart00221	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	183	cd05589	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	192	cd05080	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	183	cd06642	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	183	cd06641	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	191	cd06613	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	183	cd06640	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	202	cd06612	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	222	cd06639	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	198	cd06654	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	323	cd05055	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	191	cd06646	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	191	cd06645	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	224	cd05098	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	205	cd06618	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	179	cd05608	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	177	cd05607	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	726	cd05579	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	253	cd05572	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	175	cd05585	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	667	cd00180	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	179	cd05606	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	186	cd08221	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	183	cd05577	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	178	cd05633	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	185	cd07846	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	794	cd05123	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	206	cd07843	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	242	cd07833	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	271	cd07834	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	192	cd06625	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	258	cd07830	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	237	cd07829	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	196	cd06917	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	183	cd05630	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	227	cd05122	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	183	cd05632	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	324	cd05105	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	326	cd05107	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	191	cd05064	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	193	cd05063	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	214	cd05094	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	204	cd05093	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	188	cd06620	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	225	cd05095	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	215	cd05097	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	269	cd05046	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	217	cd05050	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	254	cd05051	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	251	cd05096	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	216	cd05049	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	208	cd05090	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	208	cd05091	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	211	cd05048	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	206	cd05092	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	247	cd05057	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	215	cd06652	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	192	cd08226	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	195	cd08216	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	191	cd06653	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	211	cd07852	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	200	cd06658	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	236	cd06614	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	306	cd05106	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	204	cd05061	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	187	cd05052	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	203	cd07864	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	188	cd07856	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	179	cd05083	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	188	cd05148	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	207	cd07849	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	248	cd05032	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	206	cd05036	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	198	cd06637	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	198	cd06624	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	203	cd05062	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	196	cd07858	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	186	cd05073	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	188	cd05039	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	196	cd05034	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	181	cd05082	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	185	cd05070	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	186	cd05072	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	185	cd05067	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	191	cd05068	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	185	cd05069	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	221	cd05056	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	200	cd05089	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	185	cd05071	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	173	smart00750	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	200	cd06616	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	180	cd05115	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	308	cd05104	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	203	cd07850	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	218	cd05100	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	218	cd05099	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	220	cd05038	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	227	cd05033	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	193	cd05065	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	194	cd05079	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	191	cd05066	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	184	cd05113	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	183	cd05114	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	183	cd05112	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	185	cd05059	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	193	cd05108	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	193	cd05110	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	193	cd05109	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	193	cd05111	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	186	cd07869	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	198	cd07880	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	218	cd07851	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	211	cd06638	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	197	cd06644	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	776	smart00220	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	197	cd06656	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	197	cd06655	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	197	cd06647	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	195	cd05040	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	193	cd05081	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	191	cd05086	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	191	cd05058	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	195	cd05042	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	189	cd05078	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	213	cd05037	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	191	cd05077	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	420	cd00192	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	180	cd05116	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	178	cd05619	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	194	cd05592	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	193	cd05620	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	189	cd07831	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	178	cd05571	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	202	cd07837	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	279	cd05574	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	178	cd05617	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	182	cd07839	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	195	cd05118	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	282	cd07840	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	178	cd05594	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	180	cd05570	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	177	cd05593	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	177	cd05595	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	178	cd05602	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	180	cd05582	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	178	cd05604	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	178	cd05084	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	201	cd05044	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	180	cd05041	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	196	cd05087	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	177	cd05085	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	255	cd08217	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	178	cd05590	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	178	cd05603	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	178	cd05575	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	178	cd05591	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	178	cd05588	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	193	cd05047	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	187	cd05060	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	190	cd06643	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	232	cd07866	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	235	cd06608	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	192	cd06611	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	213	cd07865	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	433	cd05581	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	206	cd06610	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	190	cd05623	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	211	cd05045	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	191	cd05583	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	203	cd05613	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	191	cd06630	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	195	cd07859	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	200	cd07857	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	183	cd05605	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	220	cd07841	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	328	cd06606	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	183	cd05631	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	205	cd07832	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	198	cd06629	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	183	cd05616	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	186	cd07836	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	185	cd07861	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	183	cd07860	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	192	cd07863	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	191	cd06651	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	227	cd06627	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	189	cd05614	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	183	cd05615	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	184	cd08225	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	188	cd08222	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	182	cd08219	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	192	cd06631	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	251	cd08215	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	184	cd08223	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	190	cd08530	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	205	cd08528	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	183	cd08218	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	198	cd06628	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	192	cd08220	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	188	cd05587	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	188	cd07853	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	193	cd05578	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	206	cd06635	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	208	cd06636	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	200	cd07877	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	198	cd06648	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	199	cd06659	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	231	cd07838	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	198	cd06657	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	196	cd06634	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	196	cd06607	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	264	cd05103	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	262	cd05102	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	205	cd05088	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	164757.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164757	CARDIOFACIOCUTANEOUS SYNDROME	OMIM	188	cd08529	33188459,NP_004324
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	47	smart00750	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	139	cd06656	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	140	cd06648	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	149	cd06635	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	176	cd06614	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	142	cd07880	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	158	cd07851	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	142	cd07878	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	166	cd05596	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	426	smart00220	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	186	cd05057	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	158	cd05100	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	139	cd06607	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	148	cd07865	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	139	cd06634	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	158	cd05099	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	162	cd05033	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	126	cd05059	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	133	cd05108	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	130	cd05039	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	188	cd05032	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	127	cd05034	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	124	cd05112	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	124	cd05114	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	125	cd05113	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	174	cd05053	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	130	cd05066	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	130	cd06620	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	142	cd06658	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	140	cd06654	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	150	cd07875	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	140	cd06657	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	120	cd05594	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	120	cd05575	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	122	cd05570	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	127	cd05042	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	129	cd05058	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	128	cd05040	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	126	cd05060	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	120	cd05041	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	118	cd05085	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	134	cd05044	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	119	cd05593	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	136	cd05047	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	119	cd05116	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	143	cd06632	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	128	cd06631	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	120	cd05590	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	120	cd05618	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	120	cd05617	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	120	cd05588	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	120	cd05603	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	120	cd05591	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	333	cd00192	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	127	cd06630	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	120	cd05571	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	120	cd05619	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	120	cd05602	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	135	cd05620	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	135	cd05592	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	119	cd05595	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	120	cd05604	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	118	cd05084	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	144	cd07850	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	159	cd06639	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	166	cd05621	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	166	cd05622	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	145	cd06633	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	161	cd05101	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	133	cd07858	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	160	cd05056	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	148	cd05088	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	145	cd07845	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	135	cd06637	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	142	cd07864	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	142	cd05036	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	147	cd08528	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	129	cd05583	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	142	cd05613	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	151	cd05045	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	133	cd07857	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	130	cd08530	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	130	cd08529	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	167	cd07834	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	128	cd07853	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	139	cd07832	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	130	cd05065	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	141	cd07841	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	127	cd07859	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	126	cd05631	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	133	cd05079	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	126	cd05630	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	126	cd05632	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	126	cd05605	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	158	cd05122	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	126	cd07861	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	124	cd07860	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	131	cd06627	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	125	cd08218	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	167	cd08215	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	125	cd05578	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	134	cd08220	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	125	cd08225	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	156	cd08217	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	205	cd06606	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	127	cd07836	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	123	cd07839	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	135	cd07863	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	126	cd08223	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	228	cd07842	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	130	cd06651	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	125	cd05616	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	130	cd05587	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	125	cd05615	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	129	cd05614	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	124	cd08219	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	127	cd06613	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	127	cd07871	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	127	cd07869	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	132	cd07856	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	128	cd07844	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	155	cd07866	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	128	cd07872	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	139	cd06616	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	143	cd05062	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	152	cd07879	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	148	cd06638	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	134	cd06644	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	129	cd06617	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	125	cd05612	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	125	cd05625	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	126	cd05598	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	134	cd07849	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	147	cd05574	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	139	cd06622	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	152	cd05038	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	125	cd05629	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	556	COG0515	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	172	cd06623	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	142	cd07837	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	154	cd06652	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	126	cd06615	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	134	cd06917	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	125	cd05626	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	130	cd05599	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	125	cd05628	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	125	cd05627	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	126	cd05624	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	126	cd05601	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	181	cd05573	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	125	cd05609	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	178	cd05580	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	129	cd05148	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	125	cd06641	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	125	cd06640	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	140	cd06619	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	125	cd06642	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	147	cd06609	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	134	cd07862	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	142	cd07843	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	130	cd07847	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	167	cd06608	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	127	cd07870	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	139	cd06612	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	130	cd06625	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	153	cd07848	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	240	cd05581	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	136	cd06610	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	130	cd06653	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	146	cd07833	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	125	cd07846	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	142	cd06605	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	126	cd05623	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	126	cd05600	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	134	cd06621	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	126	cd05597	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	125	cd05589	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	150	cd07854	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	132	cd05081	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	147	cd05035	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	131	cd05080	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	132	cd07868	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	132	cd07867	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	133	cd05118	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	536	smart00221	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	125	cd07831	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	176	cd07830	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	421	smart00219	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	150	cd07838	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	215	pfam00069	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	173	cd07840	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	134	cd06629	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	150	cd07835	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	164	cd07829	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	280	pfam07714	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	137	cd05074	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	145	cd06636	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	147	cd07876	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	122	cd05582	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	126	cd06626	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	121	cd05611	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	128	cd05584	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	130	cd06645	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	130	cd06646	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	204	cd05103	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	137	cd06624	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	192	cd05572	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	120	cd05579	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	119	cd05115	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	640	cd05123	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	129	cd06611	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	120	cd05586	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	117	cd05585	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	121	cd05608	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	119	cd05607	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	124	cd05577	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	365	cd00180	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	122	cd05606	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	121	cd05633	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	144	cd07877	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	143	cd07874	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	130	cd08228	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	127	cd06643	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	131	cd08224	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	130	cd08229	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	143	cd05089	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	124	cd05083	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	141	cd06659	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	166	cd05043	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	133	cd07852	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	126	cd05067	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	126	cd05070	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	152	cd07855	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	146	cd05092	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	151	cd05049	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	157	cd05050	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	126	cd05082	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	127	cd05073	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	128	cd06650	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	128	cd05052	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	131	cd05064	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	132	cd05063	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	127	cd05072	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	144	cd05093	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	144	cd05061	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	165	cd05095	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	155	cd05097	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	148	cd05090	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	129	cd05068	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	128	cd06649	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	151	cd05048	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	127	cd08216	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	126	cd08221	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	131	cd08222	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	132	cd06628	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	128	cd07873	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	139	cd06655	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	139	cd06647	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	143	cd06618	4502023,NP_001617
208	1170703	Disease	p.Arg274His	164731.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164731	DIABETES MELLITUS, TYPE II	OMIM	164	cd05098	4502023,NP_001617
4938	74229011	Disease	p.Ser162Gly	164350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164350	DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO	OMIM	183	cd05400	NULL
4938	296439492	Disease	p.Ser162Gly	164350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164350	DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO	OMIM	183	cd05400	74229013,NP_058132
4938	74229015	Disease	p.Ser162Gly	164350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164350	DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO	OMIM	183	cd05400	NULL
3952	730218	Disease	p.Arg105Trp	164160.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164160	OBESITY, MORBID, WITH HYPOGONADISM	OMIM	84	pfam02024	4557715,NP_000221
5539	129567	Disease	p.Glu89Lys	164050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164050	NUCLEOSIDE PHOSPHORYLASE DEFICIENCY	OMIM	No Domain	N/A	4506033,NP_002713
5539	129567	Disease	p.Ala174Pro	164050.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164050	NUCLEOSIDE PHOSPHORYLASE DEFICIENCY	OMIM	No Domain	N/A	4506033,NP_002713
5539	129567	Disease	p.Asp128Gly	164050.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164050	NUCLEOSIDE PHOSPHORYLASE DEFICIENCY	OMIM	No Domain	N/A	4506033,NP_002713
5539	129567	Disease	p.Arg234Pro	164050.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164050	NUCLEOSIDE PHOSPHORYLASE DEFICIENCY	OMIM	No Domain	N/A	4506033,NP_002713
5539	129567	Disease	p.Ser51Gly	164050.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164050	NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM	OMIM	26	pfam00159	4506033,NP_002713
5539	129567	Disease	p.Ser51Gly	164050.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164050	NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM	OMIM	24	cd00126	4506033,NP_002713
5539	129567	Disease	p.Ser51Gly	164050.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164050	NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM	OMIM	24	smart00309	4506033,NP_002713
5539	129567	Disease	p.Tyr192Cys	164050.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164050	NUCLEOSIDE PHOSPHORYLASE DEFICIENCY	OMIM	No Domain	N/A	4506033,NP_002713
9782	12643409	Disease	p.Ser85Cys	164015.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164015	MYOPATHY, DISTAL 2	OMIM	No Domain	N/A	62750354,NP_954659|21626466,NP_061322|303227926,NP_001181884|303227924,NP_001181883
9782	12643409	Disease	p.Ser85Cys	164015.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164015	MYOPATHY, DISTAL 2	OMIM	No Domain	N/A	62750354,NP_954659|21626466,NP_061322|303227926,NP_001181884|303227924,NP_001181883
9782	12643409	Disease	p.Ser85Cys	164015.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164015	MYOPATHY, DISTAL 2	OMIM	No Domain	N/A	62750354,NP_954659|21626466,NP_061322|303227926,NP_001181884|303227924,NP_001181883
9782	12643409	Disease	p.Ser85Cys	164015.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164015	MYOPATHY, DISTAL 2	OMIM	No Domain	N/A	62750354,NP_954659|21626466,NP_061322|303227926,NP_001181884|303227924,NP_001181883
9782	303227928	Disease	p.Ser85Cys	164015.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164015	MYOPATHY, DISTAL 2	OMIM	No Domain	N/A	NULL
4792	126682	Disease	p.Ser32Ile	164008.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164008	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	OMIM	14	COG0666	10092619,NP_065390
6530	128616	Disease	p.Ala457Pro	163970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163970	ORTHOSTATIC INTOLERANCE	OMIM	430	COG0733	289191351,NP_001165972|4557046,NP_001034
6530	128616	Disease	p.Ala457Pro	163970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163970	ORTHOSTATIC INTOLERANCE	OMIM	495	pfam00209	289191351,NP_001165972|4557046,NP_001034
6530	289191353	Disease	p.Ala457Pro	163970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163970	ORTHOSTATIC INTOLERANCE	OMIM	616	pfam00209	NULL
6530	289191377	Disease	p.Ala457Pro	163970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163970	ORTHOSTATIC INTOLERANCE	OMIM	430	COG0733	NULL
6530	289191377	Disease	p.Ala457Pro	163970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163970	ORTHOSTATIC INTOLERANCE	OMIM	495	pfam00209	NULL
6530	128616	Disease	p.Ala457Pro	163970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163970	ORTHOSTATIC INTOLERANCE	OMIM	430	COG0733	289191351,NP_001165972|4557046,NP_001034
6530	128616	Disease	p.Ala457Pro	163970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163970	ORTHOSTATIC INTOLERANCE	OMIM	495	pfam00209	289191351,NP_001165972|4557046,NP_001034
6622	586067	Disease	p.Ala53Thr	163890.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163890	PARKINSON DISEASE 1, AUTOSOMAL DOMINANT	OMIM	64	pfam01387	4507109,NP_000336|225690604,NP_001139527|225690602,NP_001139526
6622	586067	Disease	p.Ala53Thr	163890.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163890	PARKINSON DISEASE 1, AUTOSOMAL DOMINANT	OMIM	64	pfam01387	4507109,NP_000336|225690604,NP_001139527|225690602,NP_001139526
6622	6806898	Disease	p.Ala53Thr	163890.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163890	PARKINSON DISEASE 1, AUTOSOMAL DOMINANT	OMIM	64	pfam01387	NULL
6622	586067	Disease	p.Ala53Thr	163890.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163890	PARKINSON DISEASE 1, AUTOSOMAL DOMINANT	OMIM	64	pfam01387	4507109,NP_000336|225690604,NP_001139527|225690602,NP_001139526
6622	586067	Disease	p.Ala30Pro	163890.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163890	PARKINSON DISEASE 1, AUTOSOMAL DOMINANT	OMIM	41	pfam01387	4507109,NP_000336|225690604,NP_001139527|225690602,NP_001139526
6622	586067	Disease	p.Ala30Pro	163890.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163890	PARKINSON DISEASE 1, AUTOSOMAL DOMINANT	OMIM	41	pfam01387	4507109,NP_000336|225690604,NP_001139527|225690602,NP_001139526
6622	6806898	Disease	p.Ala30Pro	163890.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163890	PARKINSON DISEASE 1, AUTOSOMAL DOMINANT	OMIM	41	pfam01387	NULL
6622	586067	Disease	p.Ala30Pro	163890.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163890	PARKINSON DISEASE 1, AUTOSOMAL DOMINANT	OMIM	41	pfam01387	4507109,NP_000336|225690604,NP_001139527|225690602,NP_001139526
6622	586067	Disease	p.Glu46Lys	163890.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163890	DEMENTIA, LEWY BODY	OMIM	57	pfam01387	4507109,NP_000336|225690604,NP_001139527|225690602,NP_001139526
6622	586067	Disease	p.Glu46Lys	163890.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163890	DEMENTIA, LEWY BODY	OMIM	57	pfam01387	4507109,NP_000336|225690604,NP_001139527|225690602,NP_001139526
6622	6806898	Disease	p.Glu46Lys	163890.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163890	DEMENTIA, LEWY BODY	OMIM	57	pfam01387	NULL
6622	586067	Disease	p.Glu46Lys	163890.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163890	DEMENTIA, LEWY BODY	OMIM	57	pfam01387	4507109,NP_000336|225690604,NP_001139527|225690602,NP_001139526
342977	148886760	Disease	p.Glu298Asp	163729.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163729	CORONARY ARTERY SPASM 1, SUSCEPTIBILITY TO||ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO||HYPERTENSION, PREGNANCY-INDUCED, SUSCEPTIBILITY TO||HYPERTENSION RESISTANT TO CONVENTIONAL THERAPY||ISCHEMIC HEART DISEASE, SUSCEPTIBILITY TO||ISCHEMIC STROKE, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
4909	462741	Disease	p.Ala88Val	162662.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162662	GLAUCOMA 1, OPEN ANGLE, O	OMIM	3	pfam00243	5453808,NP_006170
4909	462741	Disease	p.Arg206Trp	162662.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162662	GLAUCOMA 1, OPEN ANGLE, O	OMIM	123	pfam00243	5453808,NP_006170
4909	462741	Disease	p.Arg206Gln	162662.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162662	GLAUCOMA 1, OPEN ANGLE, O	OMIM	123	pfam00243	5453808,NP_006170
4852	128117	Disease	p.Leu7Pro	162640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162640	NEUROPEPTIDE Y POLYMORPHISM	OMIM	No Domain	N/A	4505449,NP_000896
6870	128364	Disease	p.Gly93Asp	162332.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162332	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	7669548,NP_001050
6870	128364	Disease	p.Pro353Ser	162332.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162332	HYPOGONADOTROPIC HYPOGONADISM	OMIM	427	pfam00001	7669548,NP_001050
6866	295849290	Disease	p.Met90Thr	162330.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162330	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
6866	18203501	Disease	p.Met90Thr	162330.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162330	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	7019577,NP_037383
4747	62511894	Disease	p.Gln333Pro	162280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162280	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E	OMIM	317	pfam00038	105990539,NP_006149
4747	62511894	Disease	p.Pro22Ser	162280.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162280	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E	OMIM	26	pfam04732	105990539,NP_006149
4747	62511894	Disease	p.Pro8Arg	162280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162280	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F	OMIM	No Domain	N/A	105990539,NP_006149
4747	62511894	Disease	p.Leu94Pro	162280.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162280	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E	OMIM	6	pfam00038	105990539,NP_006149
5122	116242674	Disease	p.Gly483Arg	162150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	11	COG4935	20336242,NP_000430
5122	116242674	Disease	p.Gly483Arg	162150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	1198	COG1404	20336242,NP_000430
5122	295424145	Disease	p.Gly483Arg	162150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	No Domain	N/A	NULL
5122	295424143	Disease	p.Gly483Arg	162150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	73	COG4935	NULL
5122	295424143	Disease	p.Gly483Arg	162150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	30	pfam01483	NULL
5122	116242674	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	78	cd04843	20336242,NP_000430
5122	116242674	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	196	cd04059	20336242,NP_000430
5122	116242674	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	132	cd07487	20336242,NP_000430
5122	116242674	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	79	cd07481	20336242,NP_000430
5122	116242674	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	120	cd07473	20336242,NP_000430
5122	116242674	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	133	cd07474	20336242,NP_000430
5122	116242674	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	267	pfam00082	20336242,NP_000430
5122	116242674	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	103	cd04848	20336242,NP_000430
5122	116242674	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	130	cd07485	20336242,NP_000430
5122	116242674	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	114	cd07489	20336242,NP_000430
5122	116242674	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	79	cd07498	20336242,NP_000430
5122	116242674	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	465	cd00306	20336242,NP_000430
5122	116242674	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	118	cd07484	20336242,NP_000430
5122	116242674	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	489	COG1404	20336242,NP_000430
5122	116242674	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	71	cd07493	20336242,NP_000430
5122	116242674	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	132	cd07482	20336242,NP_000430
5122	116242674	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	119	cd07496	20336242,NP_000430
5122	116242674	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	69	cd07477	20336242,NP_000430
5122	116242674	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	107	cd04842	20336242,NP_000430
5122	116242674	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	206	cd07475	20336242,NP_000430
5122	295424145	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	31	pfam01483	NULL
5122	295424145	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	74	COG4935	NULL
5122	295424143	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	260	cd04059	NULL
5122	295424143	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	559	COG1404	NULL
5122	295424143	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	365	pfam00082	NULL
5122	295424143	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	140	cd07498	NULL
5122	295424143	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	638	cd00306	NULL
5122	295424143	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	228	cd07474	NULL
5122	295424143	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	253	cd07487	NULL
5122	295424143	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	150	cd07481	NULL
5122	295424143	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	190	cd07473	NULL
5122	295424143	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	201	cd07485	NULL
5122	295424143	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	275	cd07475	NULL
5122	295424143	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	198	cd04842	NULL
5122	295424143	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	162	cd07484	NULL
5122	295424143	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	169	cd07489	NULL
5122	295424143	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	139	cd04843	NULL
5122	295424143	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	197	cd07482	NULL
5122	295424143	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	160	cd07496	NULL
5122	295424143	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	154	cd07477	NULL
5122	295424143	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	132	cd07493	NULL
5122	295424143	Disease	p.Asn221Asp	162150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	OBESITY, SUSCEPTIBILITY TO	OMIM	209	cd04848	NULL
5122	116242674	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	194	cd04843	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	310	cd04059	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	288	cd07487	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	184	cd07481	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	244	cd07473	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	271	cd07474	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	414	pfam00082	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	285	cd04848	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	265	cd07485	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	232	cd07489	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	188	cd07498	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	733	cd00306	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	207	cd07484	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	651	COG1404	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	170	cd07493	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	247	cd07482	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	226	cd07496	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	182	cd07477	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	262	cd04842	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	310	cd07475	20336242,NP_000430
5122	295424145	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	157	COG4935	NULL
5122	295424143	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	391	cd04059	NULL
5122	295424143	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	903	COG1404	NULL
5122	295424143	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	629	pfam00082	NULL
5122	295424143	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	256	cd07498	NULL
5122	295424143	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	1160	cd00306	NULL
5122	295424143	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	484	cd07474	NULL
5122	295424143	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	378	cd07487	NULL
5122	295424143	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	226	cd07481	NULL
5122	295424143	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	332	cd07473	NULL
5122	295424143	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	302	cd07485	NULL
5122	295424143	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	555	cd07475	NULL
5122	295424143	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	489	cd04842	NULL
5122	295424143	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	279	cd07484	NULL
5122	295424143	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	407	cd07489	NULL
5122	295424143	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	254	cd04843	NULL
5122	295424143	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	354	cd07482	NULL
5122	295424143	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	278	cd07496	NULL
5122	295424143	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	321	cd07477	NULL
5122	295424143	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	206	cd07493	NULL
5122	295424143	Disease	p.Ser307Leu	162150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162150	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	OMIM	408	cd04848	NULL
4901	1709348	Disease	p.Ser50Thr	162080.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162080	RETINITIS PIGMENTOSA 27	OMIM	No Domain	N/A	5453802,NP_006168
4901	1709348	Disease	p.Leu160Pro	162080.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162080	RETINAL DEGENERATION, AUTOSOMAL RECESSIVE, CLUMPED PIGMENT TYPE	OMIM	6	smart00338	5453802,NP_006168
4901	1709348	Disease	p.Leu160Pro	162080.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162080	RETINAL DEGENERATION, AUTOSOMAL RECESSIVE, CLUMPED PIGMENT TYPE	OMIM	33	pfam03131	5453802,NP_006168
4803	90110037	Disease	p.Arg211Trp	162030.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162030	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V	OMIM	116	smart00140	70995319,NP_002497
4803	90110037	Disease	p.Arg211Trp	162030.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162030	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V	OMIM	97	pfam00243	70995319,NP_002497
4723	20455501	Disease	p.Thr423Met	161015.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161015	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	420	COG1894	20149568,NP_009034
4723	260656005	Disease	p.Thr423Met	161015.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161015	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	429	COG1894	NULL
4723	20455501	Disease	p.Ala341Val	161015.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161015	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	336	COG1894	20149568,NP_009034
4723	260656005	Disease	p.Ala341Val	161015.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161015	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	345	COG1894	NULL
4723	20455501	Disease	p.Glu214Lys	161015.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161015	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	206	COG1894	20149568,NP_009034
4723	20455501	Disease	p.Glu214Lys	161015.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161015	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	199	pfam01512	20149568,NP_009034
4723	260656005	Disease	p.Glu214Lys	161015.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161015	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	215	COG1894	NULL
4723	260656005	Disease	p.Glu214Lys	161015.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161015	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	225	pfam01512	NULL
4634	127149	Disease	p.Met149Val	160790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160790	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8	OMIM	130	COG5126	4557777,NP_000249
4634	127149	Disease	p.Met149Val	160790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160790	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8	OMIM	19	cd00051	4557777,NP_000249
4634	127149	Disease	p.Arg154His	160790.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160790	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8	OMIM	135	COG5126	4557777,NP_000249
4634	127149	Disease	p.Arg154His	160790.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160790	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8	OMIM	24	cd00051	4557777,NP_000249
4634	127149	Disease	p.Glu143Lys	160790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160790	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8	OMIM	124	COG5126	4557777,NP_000249
4634	127149	Disease	p.Glu143Lys	160790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160790	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8	OMIM	12	cd00051	4557777,NP_000249
4633	6166556	Disease	p.Ala13Thr	160781.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160781	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10	OMIM	15	COG5126	94981553,NP_000423
4633	6166556	Disease	p.Glu22Lys	160781.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160781	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10	OMIM	24	COG5126	94981553,NP_000423
4633	6166556	Disease	p.Pro94Arg	160781.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160781	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10	OMIM	109	COG5126	94981553,NP_000423
4633	6166556	Disease	p.Arg58Gln	160781.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160781	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10	OMIM	32	cd00051	94981553,NP_000423
4633	6166556	Disease	p.Arg58Gln	160781.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160781	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10	OMIM	60_G	COG5126	94981553,NP_000423
4633	6166556	Disease	p.Phe18Leu	160781.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160781	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10	OMIM	20	COG5126	94981553,NP_000423
79742	193804856	Disease	p.Phe18Leu	160777.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160777	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Phe18Leu	160777.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160777	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
4627	6166599	Disease	p.Glu1841Lys	160775.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	MAY-HEGGLIN ANOMALY||FECHTNER SYNDROME	OMIM	778	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Arg1165Cys	160775.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	SEBASTIAN SYNDROME	OMIM	100	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Arg1165Cys	160775.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	SEBASTIAN SYNDROME	OMIM	1300	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	160775.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	MAY-HEGGLIN ANOMALY	OMIM	11	pfam00063	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	160775.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	MAY-HEGGLIN ANOMALY	OMIM	13	cd01378	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	160775.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	MAY-HEGGLIN ANOMALY	OMIM	19	cd01385	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	160775.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	MAY-HEGGLIN ANOMALY	OMIM	16	cd01382	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	160775.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	MAY-HEGGLIN ANOMALY	OMIM	13	cd01387	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	160775.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	MAY-HEGGLIN ANOMALY	OMIM	13	cd01384	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	160775.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	MAY-HEGGLIN ANOMALY	OMIM	17	cd01377	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	160775.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	MAY-HEGGLIN ANOMALY	OMIM	24	smart00242	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	160775.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	MAY-HEGGLIN ANOMALY	OMIM	20	cd01383	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	160775.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	MAY-HEGGLIN ANOMALY	OMIM	102	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	160775.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	MAY-HEGGLIN ANOMALY	OMIM	12	cd01381	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	160775.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	MAY-HEGGLIN ANOMALY	OMIM	12	cd01386	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	160775.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	MAY-HEGGLIN ANOMALY	OMIM	22	cd00124	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	160775.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	MAY-HEGGLIN ANOMALY	OMIM	18	cd01380	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	160775.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	MAY-HEGGLIN ANOMALY	OMIM	12	cd01379	12667788,NP_002464
4627	6166599	Disease	p.Asp1424His	160775.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME	OMIM	360	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Asp1424His	160775.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME	OMIM	1638	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	160775.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME||SEBASTIAN SYNDROME||MAY-HEGGLIN ANOMALY	OMIM	878	pfam00063	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	160775.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME||SEBASTIAN SYNDROME||MAY-HEGGLIN ANOMALY	OMIM	809	cd01378	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	160775.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME||SEBASTIAN SYNDROME||MAY-HEGGLIN ANOMALY	OMIM	759	cd01385	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	160775.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME||SEBASTIAN SYNDROME||MAY-HEGGLIN ANOMALY	OMIM	869	cd01382	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	160775.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME||SEBASTIAN SYNDROME||MAY-HEGGLIN ANOMALY	OMIM	616	cd01387	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	160775.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME||SEBASTIAN SYNDROME||MAY-HEGGLIN ANOMALY	OMIM	695	cd01384	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	160775.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME||SEBASTIAN SYNDROME||MAY-HEGGLIN ANOMALY	OMIM	735	cd01377	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	160775.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME||SEBASTIAN SYNDROME||MAY-HEGGLIN ANOMALY	OMIM	1377	smart00242	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	160775.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME||SEBASTIAN SYNDROME||MAY-HEGGLIN ANOMALY	OMIM	610	cd01383	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	160775.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME||SEBASTIAN SYNDROME||MAY-HEGGLIN ANOMALY	OMIM	747	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	160775.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME||SEBASTIAN SYNDROME||MAY-HEGGLIN ANOMALY	OMIM	608	cd01381	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	160775.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME||SEBASTIAN SYNDROME||MAY-HEGGLIN ANOMALY	OMIM	761	cd01386	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	160775.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME||SEBASTIAN SYNDROME||MAY-HEGGLIN ANOMALY	OMIM	1064	cd00124	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	160775.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME||SEBASTIAN SYNDROME||MAY-HEGGLIN ANOMALY	OMIM	695	cd01380	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	160775.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME||SEBASTIAN SYNDROME||MAY-HEGGLIN ANOMALY	OMIM	948	cd01379	12667788,NP_002464
4627	6166599	Disease	p.Thr1155Ile	160775.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	MAY-HEGGLIN ANOMALY||FECHTNER SYNDROME	OMIM	90	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Thr1155Ile	160775.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	MAY-HEGGLIN ANOMALY||FECHTNER SYNDROME	OMIM	1290	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	160775.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	DEAFNESS, AUTOSOMAL DOMINANT 17	OMIM	881	pfam00063	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	160775.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	DEAFNESS, AUTOSOMAL DOMINANT 17	OMIM	812	cd01378	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	160775.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	DEAFNESS, AUTOSOMAL DOMINANT 17	OMIM	762	cd01385	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	160775.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	DEAFNESS, AUTOSOMAL DOMINANT 17	OMIM	872	cd01382	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	160775.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	DEAFNESS, AUTOSOMAL DOMINANT 17	OMIM	619	cd01387	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	160775.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	DEAFNESS, AUTOSOMAL DOMINANT 17	OMIM	698	cd01384	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	160775.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	DEAFNESS, AUTOSOMAL DOMINANT 17	OMIM	738	cd01377	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	160775.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	DEAFNESS, AUTOSOMAL DOMINANT 17	OMIM	1380	smart00242	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	160775.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	DEAFNESS, AUTOSOMAL DOMINANT 17	OMIM	613	cd01383	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	160775.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	DEAFNESS, AUTOSOMAL DOMINANT 17	OMIM	750	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	160775.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	DEAFNESS, AUTOSOMAL DOMINANT 17	OMIM	611	cd01381	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	160775.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	DEAFNESS, AUTOSOMAL DOMINANT 17	OMIM	764	cd01386	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	160775.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	DEAFNESS, AUTOSOMAL DOMINANT 17	OMIM	1067	cd00124	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	160775.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	DEAFNESS, AUTOSOMAL DOMINANT 17	OMIM	698	cd01380	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	160775.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	DEAFNESS, AUTOSOMAL DOMINANT 17	OMIM	951	cd01379	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	160775.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME	OMIM	878	pfam00063	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	160775.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME	OMIM	809	cd01378	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	160775.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME	OMIM	759	cd01385	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	160775.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME	OMIM	869	cd01382	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	160775.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME	OMIM	616	cd01387	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	160775.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME	OMIM	695	cd01384	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	160775.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME	OMIM	735	cd01377	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	160775.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME	OMIM	1377	smart00242	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	160775.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME	OMIM	610	cd01383	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	160775.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME	OMIM	747	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	160775.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME	OMIM	608	cd01381	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	160775.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME	OMIM	761	cd01386	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	160775.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME	OMIM	1064	cd00124	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	160775.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME	OMIM	695	cd01380	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	160775.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	FECHTNER SYNDROME||EPSTEIN SYNDROME	OMIM	948	cd01379	12667788,NP_002464
4627	6166599	Disease	p.Asp1424Asn	160775.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	MAY-HEGGLIN ANOMALY||FECHTNER SYNDROME||MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS||SEBASTIAN SYNDROME	OMIM	360	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Asp1424Asn	160775.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	MAY-HEGGLIN ANOMALY||FECHTNER SYNDROME||MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS||SEBASTIAN SYNDROME	OMIM	1638	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	160775.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	EPSTEIN SYNDROME	OMIM	14	pfam00063	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	160775.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	EPSTEIN SYNDROME	OMIM	16	cd01378	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	160775.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	EPSTEIN SYNDROME	OMIM	22	cd01385	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	160775.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	EPSTEIN SYNDROME	OMIM	19	cd01382	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	160775.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	EPSTEIN SYNDROME	OMIM	16	cd01387	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	160775.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	EPSTEIN SYNDROME	OMIM	16	cd01384	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	160775.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	EPSTEIN SYNDROME	OMIM	20	cd01377	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	160775.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	EPSTEIN SYNDROME	OMIM	32	smart00242	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	160775.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	EPSTEIN SYNDROME	OMIM	23	cd01383	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	160775.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	EPSTEIN SYNDROME	OMIM	105	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	160775.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	EPSTEIN SYNDROME	OMIM	15	cd01381	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	160775.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	EPSTEIN SYNDROME	OMIM	15	cd01386	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	160775.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	EPSTEIN SYNDROME	OMIM	25	cd00124	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	160775.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	EPSTEIN SYNDROME	OMIM	21	cd01380	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	160775.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160775	EPSTEIN SYNDROME	OMIM	15	cd01379	12667788,NP_002464
4625	83304912	Disease	p.Arg403Gln	160760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	315	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	160760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	353	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	160760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	424	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	160760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	591	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	160760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	314	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	160760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	388	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	160760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	382	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	160760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	444	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	160760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	464	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	160760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	323	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	160760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	319	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	160760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	320	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	160760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	401	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	160760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	312	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	160760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	480	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	160760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	364	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	160760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	159	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	160760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	189	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	160760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	269	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	160760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	322	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	160760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	159	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	160760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	234	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	160760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	217	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	160760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	220	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	160760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	299	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	160760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	164	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	160760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	154	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	160760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	161	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	160760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	177	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	160760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	153	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	160760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	241	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	160760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	195	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	160760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	366	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	160760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	430	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	160760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	484	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	160760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	678	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	160760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	364	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	160760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	438	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	160760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	451	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	160760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	541	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	160760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	528	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	160760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	378	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	160760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	414	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	160760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	384	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	160760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	456_G	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	160760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	367	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	160760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	590	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	160760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	423	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	160760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	492	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	160760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	562	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	160760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	616	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	160760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	1001	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	160760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	489	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	160760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	569	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	160760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	602	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	160760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	693	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	160760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	672	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	160760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	514	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	160760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	539	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	160760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	583	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	160760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	592	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	160760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	494	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	160760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	775	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	160760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	552	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	160760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	514	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	160760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	584	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	160760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	638	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	160760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	1023	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	160760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	511	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	160760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	591	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	160760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	624	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	160760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	715	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	160760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	694	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	160760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	536	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	160760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	561	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	160760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	608	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	160760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	614	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	160760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	516	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	160760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	799	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	160760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	574	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Glu924Lys	160760.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	973	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu949Lys	160760.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	1005	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	160760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	636	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	160760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	715	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	160760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	767	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	160760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	1397	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	160760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	630	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	160760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	755	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	160760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	898	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	160760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	829	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	160760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	779	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	160760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	968	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	160760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	781	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	160760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	889	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	160760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	628	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	160760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	1090	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	160760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	715	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Leu908Val	160760.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	956	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	160760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	654	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	160760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	732	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	160760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	792	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	160760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	1452	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	160760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	638	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	160760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	780	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	160760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	923	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	160760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	850	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	160760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	792	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	160760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	1064	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	160760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	809	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	160760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	904	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	160760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	646	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	160760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	1122	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	160760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	740	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	160760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	165	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	160760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	196	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	160760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	276	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	160760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	329	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	160760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	166	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	160760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	241	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	160760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	224	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	160760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	227	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	160760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	306	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	160760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	171	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	160760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	161	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	160760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	168	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	160760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	184	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	160760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	160	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	160760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	252	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	160760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	203	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Asp778Gly	160760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	811	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Asp778Gly	160760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	830	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Asp778Gly	160760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	826	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Asp778Gly	160760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	1099	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	160760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	315	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	160760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	353	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	160760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	424	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	160760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	591	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	160760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	314	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	160760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	388	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	160760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	382	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	160760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	444	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	160760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	464	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	160760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	323	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	160760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	319	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	160760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	320	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	160760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	401	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	160760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	312	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	160760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	480	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	160760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	364	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	160760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	315	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	160760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	353	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	160760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	424	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	160760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	591	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	160760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	314	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	160760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	388	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	160760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	382	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	160760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	444	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	160760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	464	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	160760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	323	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	160760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	319	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	160760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	320	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	160760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	401	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	160760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	312	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	160760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	480	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	160760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	364	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	160760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	426	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	160760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	490	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	160760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	544	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	160760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	806	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	160760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	425	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	160760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	498	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	160760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	511	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	160760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	603	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	160760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	588	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	160760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	440	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	160760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	474	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	160760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	453	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	160760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	516	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	160760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	427	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	160760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	653	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	160760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	483	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	160760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	632	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	160760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	711	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	160760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	763	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	160760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	1393	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	160760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	626	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	160760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	751	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	160760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	894	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	160760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	825	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	160760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	775	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	160760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	964	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	160760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	777	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	160760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	885	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	160760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	624	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	160760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	1086	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	160760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	711	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	160760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	629	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	160760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	708	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	160760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	760	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	160760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	1390	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	160760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	623	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	160760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	748	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	160760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	891	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	160760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	822	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	160760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	772	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	160760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	961	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	160760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	774	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	160760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	882	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	160760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	621	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	160760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	1083	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	160760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	708	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Glu935Lys	160760.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	991	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	160760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	258	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	160760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	290	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	160760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	371	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	160760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	508	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	160760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	260	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	160760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	334	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	160760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	325	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	160760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	372	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	160760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	406	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	160760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	265	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	160760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	261	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	160760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	264	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	160760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	344	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	160760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	255	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	160760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	403	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	160760.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	302	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	160760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	632	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	160760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	711	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	160760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	763	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	160760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	1393	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	160760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	626	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	160760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	751	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	160760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	894	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	160760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	825	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	160760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	775	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	160760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	964	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	160760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	777	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	160760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	885	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	160760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	624	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	160760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	1086	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	160760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	711	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	160760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	445	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	160760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	513	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	160760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	566	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	160760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	879	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	160760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	444	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	160760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	517	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	160760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	533	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	160760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	626	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	160760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	609	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	160760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	467	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	160760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	493	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	160760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	500	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	160760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	535	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	160760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	446	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	160760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	688	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	160760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	501	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	160760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	678	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	160760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	797	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	160760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	815	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	160760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	1505	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	160760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	668	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	160760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	813	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	160760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	952	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	160760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	876	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	160760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	816	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	160760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	1085	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	160760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	832	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	160760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	927	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	160760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	669	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	160760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	1145	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	160760.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	768	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	160760.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC	OMIM	656	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	160760.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC	OMIM	778	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	160760.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC	OMIM	794	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	160760.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC	OMIM	1467	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	160760.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC	OMIM	640	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	160760.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC	OMIM	782	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	160760.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC	OMIM	925	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	160760.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC	OMIM	852	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	160760.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC	OMIM	795	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	160760.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC	OMIM	1066	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	160760.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC	OMIM	811	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	160760.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC	OMIM	906	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	160760.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC	OMIM	648	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	160760.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC	OMIM	1124	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	160760.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC	OMIM	742	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	160760.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	641	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	160760.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	720	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	160760.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	772	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	160760.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	1416	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	160760.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	635	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	160760.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	760	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	160760.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	903	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	160760.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	834	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	160760.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	781_G	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	160760.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	1038	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	160760.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	788	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	160760.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	893_G	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	160760.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	633	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	160760.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	1099	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	160760.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	720	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	160760.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	133	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	160760.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	163	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	160760.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	243	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	160760.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	284	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	160760.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	133	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	160760.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	207	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	160760.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	191	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	160760.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	194	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	160760.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	273	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	160760.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	138	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	160760.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	128	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	160760.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	134	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	160760.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	151	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	160760.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	127	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	160760.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	215	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	160760.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	169	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	160760.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	555	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	160760.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	633	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	160760.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	686	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	160760.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	1265	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	160760.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	549	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	160760.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	627	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	160760.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	674	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	160760.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	808	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	160760.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	748	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	160760.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	676	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	160760.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	887	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	160760.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	648	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	160760.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	647	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	160760.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	550_G	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	160760.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	961	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	160760.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, DILATED, 1S	OMIM	634	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg1845Trp	160760.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	MYOPATHY, MYOSIN STORAGE||SCAPULOPERONEAL MYOPATHY, MYH7-RELATED	OMIM	779	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Arg1500Pro	160760.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	LAING DISTAL MYOPATHY	OMIM	1657	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg1500Pro	160760.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	LAING DISTAL MYOPATHY	OMIM	433	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.His1904Leu	160760.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	MYOPATHY, MYOSIN STORAGE	OMIM	838	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Arg1712Trp	160760.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	646	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	160760.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	396	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	160760.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	460	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	160760.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	514	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	160760.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	776	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	160760.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	395	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	160760.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	468	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	160760.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	481	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	160760.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	573	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	160760.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	558	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	160760.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	410	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	160760.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	444	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	160760.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	423	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	160760.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	486	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	160760.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	397	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	160760.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	622	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	160760.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	453	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg870His	160760.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	923	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu1883Lys	160760.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||MYOPATHY, MYOSIN STORAGE	OMIM	817	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	160760.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	LAING DISTAL MYOPATHY	OMIM	353	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	160760.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	LAING DISTAL MYOPATHY	OMIM	391	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	160760.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	LAING DISTAL MYOPATHY	OMIM	467	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	160760.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	LAING DISTAL MYOPATHY	OMIM	645	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	160760.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	LAING DISTAL MYOPATHY	OMIM	352	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	160760.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	LAING DISTAL MYOPATHY	OMIM	426	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	160760.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	LAING DISTAL MYOPATHY	OMIM	428	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	160760.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	LAING DISTAL MYOPATHY	OMIM	491	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	160760.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	LAING DISTAL MYOPATHY	OMIM	510	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	160760.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	LAING DISTAL MYOPATHY	OMIM	361	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	160760.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	LAING DISTAL MYOPATHY	OMIM	357	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	160760.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	LAING DISTAL MYOPATHY	OMIM	372	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	160760.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	LAING DISTAL MYOPATHY	OMIM	445	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	160760.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	LAING DISTAL MYOPATHY	OMIM	350	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	160760.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	LAING DISTAL MYOPATHY	OMIM	531	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	160760.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	LAING DISTAL MYOPATHY	OMIM	402	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Leu1793Pro	160760.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	MYOPATHY, MYOSIN STORAGE||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||LEFT VENTRICULAR NONCOMPACTION 5	OMIM	727	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Glu497Asp	160760.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	410	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Glu497Asp	160760.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	474	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Glu497Asp	160760.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	528	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu497Asp	160760.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	790	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Glu497Asp	160760.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	409	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Glu497Asp	160760.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	482	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Glu497Asp	160760.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	495	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Glu497Asp	160760.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	587	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Glu497Asp	160760.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	572	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Glu497Asp	160760.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	424	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Glu497Asp	160760.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	458	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Glu497Asp	160760.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	437	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Glu497Asp	160760.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	500	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Glu497Asp	160760.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	411	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Glu497Asp	160760.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	636	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Glu497Asp	160760.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	467	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Asp906Gly	160760.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	955_G	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg243His	160760.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||LEFT VENTRICULAR NONCOMPACTION 5	OMIM	153	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg243His	160760.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||LEFT VENTRICULAR NONCOMPACTION 5	OMIM	183	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg243His	160760.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||LEFT VENTRICULAR NONCOMPACTION 5	OMIM	263	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg243His	160760.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||LEFT VENTRICULAR NONCOMPACTION 5	OMIM	316	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg243His	160760.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||LEFT VENTRICULAR NONCOMPACTION 5	OMIM	153	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg243His	160760.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||LEFT VENTRICULAR NONCOMPACTION 5	OMIM	228	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg243His	160760.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||LEFT VENTRICULAR NONCOMPACTION 5	OMIM	211	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg243His	160760.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||LEFT VENTRICULAR NONCOMPACTION 5	OMIM	214	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg243His	160760.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||LEFT VENTRICULAR NONCOMPACTION 5	OMIM	293	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg243His	160760.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||LEFT VENTRICULAR NONCOMPACTION 5	OMIM	158	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg243His	160760.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||LEFT VENTRICULAR NONCOMPACTION 5	OMIM	148	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg243His	160760.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||LEFT VENTRICULAR NONCOMPACTION 5	OMIM	155	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg243His	160760.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||LEFT VENTRICULAR NONCOMPACTION 5	OMIM	171	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg243His	160760.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||LEFT VENTRICULAR NONCOMPACTION 5	OMIM	147	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg243His	160760.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||LEFT VENTRICULAR NONCOMPACTION 5	OMIM	235	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg243His	160760.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1||LEFT VENTRICULAR NONCOMPACTION 5	OMIM	189	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ala1766Thr	160760.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	LEFT VENTRICULAR NONCOMPACTION 5	OMIM	700	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Arg453Ser	160760.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	366	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg453Ser	160760.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	430	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg453Ser	160760.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	484	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg453Ser	160760.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	678	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg453Ser	160760.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	364	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg453Ser	160760.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	438	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg453Ser	160760.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	451	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg453Ser	160760.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	541	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg453Ser	160760.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	528	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg453Ser	160760.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	378	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg453Ser	160760.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	414	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg453Ser	160760.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	384	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg453Ser	160760.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	456_G	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg453Ser	160760.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	367	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg453Ser	160760.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	590	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg453Ser	160760.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160760	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	OMIM	423	cd01380	115496169,NP_000248
4629	92091583	Disease	p.Arg1758Gln	160745.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	681	pfam01576	NULL
4629	13124875	Disease	p.Arg1758Gln	160745.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	688	pfam01576	NULL
4629	92091586	Disease	p.Arg1758Gln	160745.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	681	pfam01576	NULL
4629	13432177	Disease	p.Arg1758Gln	160745.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	688	pfam01576	13124879,NP_002465
4629	92091583	Disease	p.Leu1264Pro	160745.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	1395	COG5022	NULL
4629	92091583	Disease	p.Leu1264Pro	160745.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	185	pfam01576	NULL
4629	13124875	Disease	p.Leu1264Pro	160745.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	1402	COG5022	NULL
4629	13124875	Disease	p.Leu1264Pro	160745.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	192	pfam01576	NULL
4629	92091586	Disease	p.Leu1264Pro	160745.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	1395	COG5022	NULL
4629	92091586	Disease	p.Leu1264Pro	160745.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	185	pfam01576	NULL
4629	13432177	Disease	p.Leu1264Pro	160745.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	1402	COG5022	13124879,NP_002465
4629	13432177	Disease	p.Leu1264Pro	160745.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	192	pfam01576	13124879,NP_002465
4629	92091583	Disease	p.Arg1275Leu	160745.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	1406	COG5022	NULL
4629	92091583	Disease	p.Arg1275Leu	160745.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	196	pfam01576	NULL
4629	13124875	Disease	p.Arg1275Leu	160745.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	1413	COG5022	NULL
4629	13124875	Disease	p.Arg1275Leu	160745.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	203	pfam01576	NULL
4629	92091586	Disease	p.Arg1275Leu	160745.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	1406	COG5022	NULL
4629	92091586	Disease	p.Arg1275Leu	160745.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	196	pfam01576	NULL
4629	13432177	Disease	p.Arg1275Leu	160745.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	1413	COG5022	13124879,NP_002465
4629	13432177	Disease	p.Arg1275Leu	160745.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	203	pfam01576	13124879,NP_002465
4629	92091583	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	691	cd01384	NULL
4629	92091583	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	612	cd01387	NULL
4629	92091583	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	1372	smart00242	NULL
4629	92091583	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	606	cd01383	NULL
4629	92091583	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	755	cd01385	NULL
4629	92091583	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	731	cd01377	NULL
4629	92091583	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	872	pfam00063	NULL
4629	92091583	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	805	cd01378	NULL
4629	92091583	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	743	COG5022	NULL
4629	92091583	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	944	cd01379	NULL
4629	92091583	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	604	cd01381	NULL
4629	92091583	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	1055	cd00124	NULL
4629	92091583	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	691	cd01380	NULL
4629	92091583	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	757	cd01386	NULL
4629	92091583	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	706	cd01382	NULL
4629	13124875	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	698	cd01384	NULL
4629	13124875	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	619	cd01387	NULL
4629	13124875	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	613	cd01383	NULL
4629	13124875	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	1380	smart00242	NULL
4629	13124875	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	762	cd01385	NULL
4629	13124875	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	738	cd01377	NULL
4629	13124875	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	812	cd01378	NULL
4629	13124875	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	881	pfam00063	NULL
4629	13124875	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	750	COG5022	NULL
4629	13124875	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	951	cd01379	NULL
4629	13124875	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	1067	cd00124	NULL
4629	13124875	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	764	cd01386	NULL
4629	13124875	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	698	cd01380	NULL
4629	13124875	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	611	cd01381	NULL
4629	13124875	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	872	cd01382	NULL
4629	92091586	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	691	cd01384	NULL
4629	92091586	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	612	cd01387	NULL
4629	92091586	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	1372	smart00242	NULL
4629	92091586	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	606	cd01383	NULL
4629	92091586	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	755	cd01385	NULL
4629	92091586	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	731	cd01377	NULL
4629	92091586	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	872	pfam00063	NULL
4629	92091586	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	805	cd01378	NULL
4629	92091586	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	743	COG5022	NULL
4629	92091586	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	944	cd01379	NULL
4629	92091586	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	604	cd01381	NULL
4629	92091586	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	1055	cd00124	NULL
4629	92091586	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	691	cd01380	NULL
4629	92091586	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	757	cd01386	NULL
4629	92091586	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	706	cd01382	NULL
4629	13432177	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	698	cd01384	13124879,NP_002465
4629	13432177	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	619	cd01387	13124879,NP_002465
4629	13432177	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	613	cd01383	13124879,NP_002465
4629	13432177	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	1380	smart00242	13124879,NP_002465
4629	13432177	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	762	cd01385	13124879,NP_002465
4629	13432177	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	738	cd01377	13124879,NP_002465
4629	13432177	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	812	cd01378	13124879,NP_002465
4629	13432177	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	881	pfam00063	13124879,NP_002465
4629	13432177	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	750	COG5022	13124879,NP_002465
4629	13432177	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	951	cd01379	13124879,NP_002465
4629	13432177	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	1067	cd00124	13124879,NP_002465
4629	13432177	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	764	cd01386	13124879,NP_002465
4629	13432177	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	698	cd01380	13124879,NP_002465
4629	13432177	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	611	cd01381	13124879,NP_002465
4629	13432177	Disease	p.Arg712Gln	160745.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160745	AORTIC ANEURYSM, FAMILIAL THORACIC 4	OMIM	872	cd01382	13124879,NP_002465
4626	3041707	Disease	p.Arg674Gln	160741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160741	CARNEY COMPLEX VARIANT||TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME	OMIM	694	cd01363	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	160741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160741	CARNEY COMPLEX VARIANT||TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME	OMIM	703	cd01377	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	160741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160741	CARNEY COMPLEX VARIANT||TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME	OMIM	715	COG5022	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	160741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160741	CARNEY COMPLEX VARIANT||TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME	OMIM	841	pfam00063	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	160741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160741	CARNEY COMPLEX VARIANT||TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME	OMIM	777	cd01378	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	160741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160741	CARNEY COMPLEX VARIANT||TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME	OMIM	678	cd01382	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	160741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160741	CARNEY COMPLEX VARIANT||TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME	OMIM	1344	smart00242	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	160741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160741	CARNEY COMPLEX VARIANT||TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME	OMIM	578	cd01383	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	160741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160741	CARNEY COMPLEX VARIANT||TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME	OMIM	663	cd01384	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	160741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160741	CARNEY COMPLEX VARIANT||TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME	OMIM	584	cd01387	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	160741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160741	CARNEY COMPLEX VARIANT||TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME	OMIM	576	cd01381	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	160741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160741	CARNEY COMPLEX VARIANT||TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME	OMIM	663	cd01380	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	160741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160741	CARNEY COMPLEX VARIANT||TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME	OMIM	1005	cd00124	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	160741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160741	CARNEY COMPLEX VARIANT||TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME	OMIM	698	cd01386	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	160741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160741	CARNEY COMPLEX VARIANT||TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME	OMIM	916	cd01379	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	160741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160741	CARNEY COMPLEX VARIANT||TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME	OMIM	727	cd01385	153945790,NP_002463
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	707	cd01382	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	756	cd01385	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	607	cd01383	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	1373	smart00242	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	945	cd01379	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	605	cd01381	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	692	cd01380	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	758	cd01386	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	1056	cd00124	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	744	COG5022	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	873	pfam00063	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	806	cd01378	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	692	cd01384	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	613	cd01387	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	732	cd01377	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	707	cd01382	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	756	cd01385	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	607	cd01383	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	1373	smart00242	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	945	cd01379	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	605	cd01381	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	692	cd01380	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	758	cd01386	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	1056	cd00124	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	744	COG5022	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	873	pfam00063	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	806	cd01378	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	692	cd01384	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	613	cd01387	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	160740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160740	INCLUSION BODY MYOPATHY 3	OMIM	732	cd01377	153791586,NP_001093582|153792663,NP_060004
4621	251757455	Disease	p.Arg672His	160720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	727	cd01385	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	160720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	694	cd01363	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	160720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	578	cd01383	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	160720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	1344	smart00242	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	160720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	663	cd01380	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	160720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	1005	cd00124	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	160720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	678	cd01382	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	160720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	698	cd01386	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	160720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	576	cd01381	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	160720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	916	cd01379	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	160720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	777	cd01378	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	160720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	841	pfam00063	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	160720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	584	cd01387	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	160720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	663	cd01384	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	160720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	715	COG5022	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	160720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	703	cd01377	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	160720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	727	cd01385	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	160720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	694	cd01363	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	160720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	578	cd01383	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	160720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	1344	smart00242	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	160720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	663	cd01380	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	160720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	1005	cd00124	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	160720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	678	cd01382	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	160720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	698	cd01386	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	160720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	576	cd01381	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	160720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	916	cd01379	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	160720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	777	cd01378	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	160720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	841	pfam00063	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	160720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	584	cd01387	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	160720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	663	cd01384	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	160720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	715	COG5022	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	160720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	703	cd01377	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	160720.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A||ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	100	cd01385	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	160720.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A||ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	90	cd01363	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	160720.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A||ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	98	cd01383	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	160720.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A||ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	131	smart00242	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	160720.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A||ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	115	cd01380	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	160720.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A||ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	131	cd00124	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	160720.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A||ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	97	cd01382	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	160720.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A||ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	93	cd01386	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	160720.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A||ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	92	cd01381	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	160720.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A||ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	92	cd01379	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	160720.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A||ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	94	cd01378	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	160720.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A||ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	105	pfam00063	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	160720.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A||ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	94	cd01387	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	160720.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A||ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	94	cd01384	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	160720.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A||ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	195	COG5022	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	160720.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A||ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	121	cd01377	98986453,NP_002461
4621	251757455	Disease	p.Val825Asp	160720.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2A	OMIM	877	COG5022	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	160720.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	294	cd01385	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	160720.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	359	cd01363	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	160720.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	285	cd01383	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	160720.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	558	smart00242	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	160720.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	336	cd01380	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	160720.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	444	cd00124	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	160720.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	373	cd01382	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	160720.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	294	cd01386	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	160720.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	280	cd01381	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	160720.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	290	cd01379	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	160720.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	435	cd01378	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	160720.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	414	pfam00063	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	160720.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	282_G	cd01387	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	160720.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	317	cd01384	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	160720.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	395	COG5022	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	160720.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	351	cd01377	98986453,NP_002461
4621	251757455	Disease	p.Asp462Gly	160720.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	386	cd01385	98986453,NP_002461
4621	251757455	Disease	p.Asp462Gly	160720.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	446	cd01363	98986453,NP_002461
4621	251757455	Disease	p.Asp462Gly	160720.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	373	cd01383	98986453,NP_002461
4621	251757455	Disease	p.Asp462Gly	160720.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	695	smart00242	98986453,NP_002461
4621	251757455	Disease	p.Asp462Gly	160720.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	431	cd01380	98986453,NP_002461
4621	251757455	Disease	p.Asp462Gly	160720.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	598	cd00124	98986453,NP_002461
4621	251757455	Disease	p.Asp462Gly	160720.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	464	cd01382	98986453,NP_002461
4621	251757455	Disease	p.Asp462Gly	160720.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	394	cd01386	98986453,NP_002461
4621	251757455	Disease	p.Asp462Gly	160720.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	375	cd01381	98986453,NP_002461
4621	251757455	Disease	p.Asp462Gly	160720.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	422	cd01379	98986453,NP_002461
4621	251757455	Disease	p.Asp462Gly	160720.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	536	cd01378	98986453,NP_002461
4621	251757455	Disease	p.Asp462Gly	160720.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	549	pfam00063	98986453,NP_002461
4621	251757455	Disease	p.Asp462Gly	160720.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	374	cd01387	98986453,NP_002461
4621	251757455	Disease	p.Asp462Gly	160720.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	438	cd01384	98986453,NP_002461
4621	251757455	Disease	p.Asp462Gly	160720.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	492	COG5022	98986453,NP_002461
4621	251757455	Disease	p.Asp462Gly	160720.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	459	cd01377	98986453,NP_002461
4621	251757455	Disease	p.Ala234Thr	160720.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	148	cd01385	98986453,NP_002461
4621	251757455	Disease	p.Ala234Thr	160720.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	218	cd01363	98986453,NP_002461
4621	251757455	Disease	p.Ala234Thr	160720.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	143	cd01383	98986453,NP_002461
4621	251757455	Disease	p.Ala234Thr	160720.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	306	smart00242	98986453,NP_002461
4621	251757455	Disease	p.Ala234Thr	160720.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	179	cd01380	98986453,NP_002461
4621	251757455	Disease	p.Ala234Thr	160720.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	225	cd00124	98986453,NP_002461
4621	251757455	Disease	p.Ala234Thr	160720.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	161	cd01382	98986453,NP_002461
4621	251757455	Disease	p.Ala234Thr	160720.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	145	cd01386	98986453,NP_002461
4621	251757455	Disease	p.Ala234Thr	160720.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	137	cd01381	98986453,NP_002461
4621	251757455	Disease	p.Ala234Thr	160720.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	138	cd01379	98986453,NP_002461
4621	251757455	Disease	p.Ala234Thr	160720.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	283	cd01378	98986453,NP_002461
4621	251757455	Disease	p.Ala234Thr	160720.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	204	pfam00063	98986453,NP_002461
4621	251757455	Disease	p.Ala234Thr	160720.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	143	cd01387	98986453,NP_002461
4621	251757455	Disease	p.Ala234Thr	160720.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	173	cd01384	98986453,NP_002461
4621	251757455	Disease	p.Ala234Thr	160720.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	253	COG5022	98986453,NP_002461
4621	251757455	Disease	p.Ala234Thr	160720.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160720	ARTHROGRYPOSIS, DISTAL, TYPE 2B	OMIM	201	cd01377	98986453,NP_002461
4624	156104908	Disease	p.Arg795Gln	160710.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160710	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14	OMIM	845	COG5022	NULL
4624	156104908	Disease	p.Arg795Gln	160710.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160710	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14	OMIM	1113	cd01379	NULL
4624	156104908	Disease	p.Ile820Asn	160710.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160710	ATRIAL SEPTAL DEFECT 3	OMIM	870	COG5022	NULL
4624	156104908	Disease	p.Gln1065His	160710.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160710	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14	OMIM	1163	COG5022	NULL
4624	156104908	Disease	p.Pro830Leu	160710.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160710	CARDIOMYOPATHY, DILATED, 1EE	OMIM	881	COG5022	NULL
4624	156104908	Disease	p.Ala1004Ser	160710.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160710	CARDIOMYOPATHY, DILATED, 1EE	OMIM	1091	COG5022	NULL
4624	156104908	Disease	p.Glu1457Lys	160710.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160710	CARDIOMYOPATHY, DILATED, 1EE	OMIM	388	pfam01576	NULL
4624	156104908	Disease	p.Glu1457Lys	160710.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160710	CARDIOMYOPATHY, DILATED, 1EE	OMIM	1602	COG5022	NULL
4618	127630	Disease	p.Ala112Ser	159991.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159991	MYOPATHY, CENTRONUCLEAR, MILD||BECKER MUSCULAR DYSTROPHY	OMIM	18	smart00353	4505299,NP_002460
4618	127630	Disease	p.Ala112Ser	159991.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159991	MYOPATHY, CENTRONUCLEAR, MILD||BECKER MUSCULAR DYSTROPHY	OMIM	19	pfam00010	4505299,NP_002460
4618	127630	Disease	p.Ala112Ser	159991.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159991	MYOPATHY, CENTRONUCLEAR, MILD||BECKER MUSCULAR DYSTROPHY	OMIM	22	cd00083	4505299,NP_002460
4352	730980	Disease	p.Arg257Cys	159530.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159530	AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL	OMIM	160	cd00063	4885491,NP_005364
4352	730980	Disease	p.Arg257Cys	159530.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159530	AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL	OMIM	180	smart00060	4885491,NP_005364
4352	730980	Disease	p.Pro635Leu	159530.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159530	AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL	OMIM	No Domain	N/A	4885491,NP_005364
4352	730980	Disease	p.Arg102Pro	159530.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159530	AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL	OMIM	83	pfam09067	4885491,NP_005364
4352	730980	Disease	p.Pro275Thr	159530.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159530	AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL	OMIM	188	cd00063	4885491,NP_005364
4352	730980	Disease	p.Lys39Asn	159530.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159530	THROMBOCYTHEMIA, SUSCEPTIBILITY TO	OMIM	16	pfam09067	4885491,NP_005364
4352	730980	Disease	p.Ser505Asn	159530.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159530	THROMBOCYTHEMIA, ESSENTIAL, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	4885491,NP_005364
4352	730980	Disease	p.Trp515Leu	159530.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159530	MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC||THROMBOCYTHEMIA, ESSENTIAL, SOMATIC	OMIM	No Domain	N/A	4885491,NP_005364
4352	730980	Disease	p.Trp515Lys	159530.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159530	MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC	OMIM	No Domain	N/A	4885491,NP_005364
4359	127721	Disease	p.Lys96Glu	159440.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	117	smart00409	295391071,NP_000521
4359	127721	Disease	p.Lys96Glu	159440.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	117	smart00410	295391071,NP_000521
4359	127721	Disease	p.Lys96Glu	159440.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	66	cd05880	295391071,NP_000521
4359	127721	Disease	p.Lys96Glu	159440.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	78	cd00096	295391071,NP_000521
4359	127721	Disease	p.Lys96Glu	159440.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	80	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Lys96Glu	159440.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	85	smart00406	295391071,NP_000521
4359	127721	Disease	p.Lys96Glu	159440.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	69	cd05715	295391071,NP_000521
4359	127721	Disease	p.Lys96Glu	159440.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	66	cd05879	295391071,NP_000521
4359	127721	Disease	p.Lys96Glu	159440.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	54	cd05718	295391071,NP_000521
4359	127721	Disease	p.Lys96Glu	159440.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	56	cd05886	295391071,NP_000521
4359	127721	Disease	p.Asp90Glu	159440.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	111	smart00409	295391071,NP_000521
4359	127721	Disease	p.Asp90Glu	159440.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	111	smart00410	295391071,NP_000521
4359	127721	Disease	p.Asp90Glu	159440.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	60	cd05880	295391071,NP_000521
4359	127721	Disease	p.Asp90Glu	159440.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	72	cd00096	295391071,NP_000521
4359	127721	Disease	p.Asp90Glu	159440.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	60	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Asp90Glu	159440.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	66	smart00406	295391071,NP_000521
4359	127721	Disease	p.Asp90Glu	159440.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	63	cd05715	295391071,NP_000521
4359	127721	Disease	p.Asp90Glu	159440.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	60	cd05879	295391071,NP_000521
4359	127721	Disease	p.Asp90Glu	159440.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	48	cd05718	295391071,NP_000521
4359	127721	Disease	p.Asp90Glu	159440.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	51	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ser63Cys	159440.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	OMIM	44	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ser63Cys	159440.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	OMIM	44	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ser63Cys	159440.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	OMIM	34	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ser63Cys	159440.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	OMIM	28	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ser63Cys	159440.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	OMIM	33	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ser63Cys	159440.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	OMIM	27	smart00406	295391071,NP_000521
4359	127721	Disease	p.Ser63Cys	159440.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	OMIM	34	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ser63Cys	159440.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	OMIM	33	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ser63Cys	159440.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	OMIM	21	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ser63Cys	159440.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	OMIM	20	cd05886	295391071,NP_000521
4359	127721	Disease	p.Gly167Arg	159440.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	295391071,NP_000521
4359	127721	Disease	p.Thr216Glu	159440.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	39	pfam10570	295391071,NP_000521
4359	127721	Disease	p.Ile135Thr	159440.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	226	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ile135Thr	159440.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	226	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ile135Thr	159440.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	105	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ile135Thr	159440.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	163	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ile135Thr	159440.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	134	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ile135Thr	159440.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	108	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ile135Thr	159440.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	105	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ile135Thr	159440.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	99	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ile135Thr	159440.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	94	cd05886	295391071,NP_000521
4359	127721	Disease	p.Gly137Ser	159440.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	230	smart00409	295391071,NP_000521
4359	127721	Disease	p.Gly137Ser	159440.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	230	smart00410	295391071,NP_000521
4359	127721	Disease	p.Gly137Ser	159440.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	107	cd05880	295391071,NP_000521
4359	127721	Disease	p.Gly137Ser	159440.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	165	cd00096	295391071,NP_000521
4359	127721	Disease	p.Gly137Ser	159440.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	136	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Gly137Ser	159440.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	110	cd05715	295391071,NP_000521
4359	127721	Disease	p.Gly137Ser	159440.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	107	cd05879	295391071,NP_000521
4359	127721	Disease	p.Gly137Ser	159440.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	100_G	cd05718	295391071,NP_000521
4359	127721	Disease	p.Gly137Ser	159440.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	96	cd05886	295391071,NP_000521
4359	127721	Disease	p.Arg98Pro	159440.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	121	smart00409	295391071,NP_000521
4359	127721	Disease	p.Arg98Pro	159440.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	121	smart00410	295391071,NP_000521
4359	127721	Disease	p.Arg98Pro	159440.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	68	cd05880	295391071,NP_000521
4359	127721	Disease	p.Arg98Pro	159440.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	80	cd00096	295391071,NP_000521
4359	127721	Disease	p.Arg98Pro	159440.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	82	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Arg98Pro	159440.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	87	smart00406	295391071,NP_000521
4359	127721	Disease	p.Arg98Pro	159440.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	71	cd05715	295391071,NP_000521
4359	127721	Disease	p.Arg98Pro	159440.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	68	cd05879	295391071,NP_000521
4359	127721	Disease	p.Arg98Pro	159440.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	56	cd05718	295391071,NP_000521
4359	127721	Disease	p.Arg98Pro	159440.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	58	cd05886	295391071,NP_000521
4359	127721	Disease	p.Arg98Cys	159440.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	121	smart00409	295391071,NP_000521
4359	127721	Disease	p.Arg98Cys	159440.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	121	smart00410	295391071,NP_000521
4359	127721	Disease	p.Arg98Cys	159440.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	68	cd05880	295391071,NP_000521
4359	127721	Disease	p.Arg98Cys	159440.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	80	cd00096	295391071,NP_000521
4359	127721	Disease	p.Arg98Cys	159440.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	82	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Arg98Cys	159440.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	87	smart00406	295391071,NP_000521
4359	127721	Disease	p.Arg98Cys	159440.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	71	cd05715	295391071,NP_000521
4359	127721	Disease	p.Arg98Cys	159440.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	68	cd05879	295391071,NP_000521
4359	127721	Disease	p.Arg98Cys	159440.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	56	cd05718	295391071,NP_000521
4359	127721	Disease	p.Arg98Cys	159440.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	58	cd05886	295391071,NP_000521
4359	127721	Disease	p.Arg98His	159440.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	121	smart00409	295391071,NP_000521
4359	127721	Disease	p.Arg98His	159440.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	121	smart00410	295391071,NP_000521
4359	127721	Disease	p.Arg98His	159440.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	68	cd05880	295391071,NP_000521
4359	127721	Disease	p.Arg98His	159440.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	80	cd00096	295391071,NP_000521
4359	127721	Disease	p.Arg98His	159440.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	82	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Arg98His	159440.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	87	smart00406	295391071,NP_000521
4359	127721	Disease	p.Arg98His	159440.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	71	cd05715	295391071,NP_000521
4359	127721	Disease	p.Arg98His	159440.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	68	cd05879	295391071,NP_000521
4359	127721	Disease	p.Arg98His	159440.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	56	cd05718	295391071,NP_000521
4359	127721	Disease	p.Arg98His	159440.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	58	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ser63Phe	159440.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	44	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ser63Phe	159440.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	44	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ser63Phe	159440.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	34	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ser63Phe	159440.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	28	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ser63Phe	159440.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	33	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ser63Phe	159440.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	27	smart00406	295391071,NP_000521
4359	127721	Disease	p.Ser63Phe	159440.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	34	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ser63Phe	159440.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	33	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ser63Phe	159440.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	21	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ser63Phe	159440.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	20	cd05886	295391071,NP_000521
4359	127721	Disease	p.His81Arg	159440.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	97	smart00409	295391071,NP_000521
4359	127721	Disease	p.His81Arg	159440.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	97	smart00410	295391071,NP_000521
4359	127721	Disease	p.His81Arg	159440.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	52	cd05880	295391071,NP_000521
4359	127721	Disease	p.His81Arg	159440.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	46	cd00096	295391071,NP_000521
4359	127721	Disease	p.His81Arg	159440.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	51	pfam07686	295391071,NP_000521
4359	127721	Disease	p.His81Arg	159440.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	48	smart00406	295391071,NP_000521
4359	127721	Disease	p.His81Arg	159440.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	52	cd05715	295391071,NP_000521
4359	127721	Disease	p.His81Arg	159440.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	51	cd05879	295391071,NP_000521
4359	127721	Disease	p.His81Arg	159440.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	40	cd05718	295391071,NP_000521
4359	127721	Disease	p.His81Arg	159440.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	38	cd05886	295391071,NP_000521
4359	127721	Disease	p.Asp99Asn	159440.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, SPORADIC	OMIM	122	smart00409	295391071,NP_000521
4359	127721	Disease	p.Asp99Asn	159440.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, SPORADIC	OMIM	122	smart00410	295391071,NP_000521
4359	127721	Disease	p.Asp99Asn	159440.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, SPORADIC	OMIM	69	cd05880	295391071,NP_000521
4359	127721	Disease	p.Asp99Asn	159440.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, SPORADIC	OMIM	81	cd00096	295391071,NP_000521
4359	127721	Disease	p.Asp99Asn	159440.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, SPORADIC	OMIM	83	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Asp99Asn	159440.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, SPORADIC	OMIM	88	smart00406	295391071,NP_000521
4359	127721	Disease	p.Asp99Asn	159440.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, SPORADIC	OMIM	72	cd05715	295391071,NP_000521
4359	127721	Disease	p.Asp99Asn	159440.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, SPORADIC	OMIM	69	cd05879	295391071,NP_000521
4359	127721	Disease	p.Asp99Asn	159440.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, SPORADIC	OMIM	57	cd05718	295391071,NP_000521
4359	127721	Disease	p.Asp99Asn	159440.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	DEJERINE-SOTTAS SYNDROME, SPORADIC	OMIM	59	cd05886	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	159440.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	197	smart00409	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	159440.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	197	smart00410	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	159440.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	94	cd05880	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	159440.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	122	cd00096	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	159440.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	109	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	159440.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	125	smart00406	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	159440.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	97	cd05715	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	159440.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	94	cd05879	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	159440.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	88	cd05718	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	159440.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	84	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ile162Met	159440.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	No Domain	N/A	295391071,NP_000521
4359	127721	Disease	p.Asp6Tyr	159440.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D	OMIM	No Domain	N/A	295391071,NP_000521
4359	127721	Disease	p.Asp75Val	159440.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	78	smart00409	295391071,NP_000521
4359	127721	Disease	p.Asp75Val	159440.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	78	smart00410	295391071,NP_000521
4359	127721	Disease	p.Asp75Val	159440.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	46	cd05880	295391071,NP_000521
4359	127721	Disease	p.Asp75Val	159440.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	40	cd00096	295391071,NP_000521
4359	127721	Disease	p.Asp75Val	159440.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	45	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Asp75Val	159440.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	42	smart00406	295391071,NP_000521
4359	127721	Disease	p.Asp75Val	159440.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	46	cd05715	295391071,NP_000521
4359	127721	Disease	p.Asp75Val	159440.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	45	cd05879	295391071,NP_000521
4359	127721	Disease	p.Asp75Val	159440.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	34	cd05718	295391071,NP_000521
4359	127721	Disease	p.Asp75Val	159440.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	32	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ser44Phe	159440.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	12	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ser44Phe	159440.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	12	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ser44Phe	159440.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	14	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ser44Phe	159440.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	8	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ser44Phe	159440.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	14	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ser44Phe	159440.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	14	cd05879	295391071,NP_000521
4359	127721	Disease	p.Asn131Lys	159440.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	ROUSSY-LEVY SYNDROME	OMIM	207	smart00409	295391071,NP_000521
4359	127721	Disease	p.Asn131Lys	159440.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	ROUSSY-LEVY SYNDROME	OMIM	207	smart00410	295391071,NP_000521
4359	127721	Disease	p.Asn131Lys	159440.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	ROUSSY-LEVY SYNDROME	OMIM	101	cd05880	295391071,NP_000521
4359	127721	Disease	p.Asn131Lys	159440.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	ROUSSY-LEVY SYNDROME	OMIM	129	cd00096	295391071,NP_000521
4359	127721	Disease	p.Asn131Lys	159440.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	ROUSSY-LEVY SYNDROME	OMIM	118	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Asn131Lys	159440.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	ROUSSY-LEVY SYNDROME	OMIM	104	cd05715	295391071,NP_000521
4359	127721	Disease	p.Asn131Lys	159440.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	ROUSSY-LEVY SYNDROME	OMIM	101	cd05879	295391071,NP_000521
4359	127721	Disease	p.Asn131Lys	159440.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	ROUSSY-LEVY SYNDROME	OMIM	95	cd05718	295391071,NP_000521
4359	127721	Disease	p.Asn131Lys	159440.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	ROUSSY-LEVY SYNDROME	OMIM	91	cd05886	295391071,NP_000521
4359	127721	Disease	p.Gly74Glu	159440.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	77	smart00409	295391071,NP_000521
4359	127721	Disease	p.Gly74Glu	159440.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	77	smart00410	295391071,NP_000521
4359	127721	Disease	p.Gly74Glu	159440.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	45	cd05880	295391071,NP_000521
4359	127721	Disease	p.Gly74Glu	159440.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	39	cd00096	295391071,NP_000521
4359	127721	Disease	p.Gly74Glu	159440.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	44	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Gly74Glu	159440.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	41	smart00406	295391071,NP_000521
4359	127721	Disease	p.Gly74Glu	159440.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	45	cd05715	295391071,NP_000521
4359	127721	Disease	p.Gly74Glu	159440.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	44	cd05879	295391071,NP_000521
4359	127721	Disease	p.Gly74Glu	159440.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	33	cd05718	295391071,NP_000521
4359	127721	Disease	p.Gly74Glu	159440.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	31	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ser49Leu	159440.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	17	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ser49Leu	159440.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	17	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ser49Leu	159440.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	19	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ser49Leu	159440.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	4	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ser49Leu	159440.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	13	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ser49Leu	159440.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	5	smart00406	295391071,NP_000521
4359	127721	Disease	p.Ser49Leu	159440.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	19	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ser49Leu	159440.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	19	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ser49Leu	159440.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	6	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ser49Leu	159440.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	6	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ile62Phe	159440.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	39	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ile62Phe	159440.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	39	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ile62Phe	159440.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	33	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ile62Phe	159440.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	27	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ile62Phe	159440.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	31	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ile62Phe	159440.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	25	smart00406	295391071,NP_000521
4359	127721	Disease	p.Ile62Phe	159440.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	33	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ile62Phe	159440.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	32	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ile62Phe	159440.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	20	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ile62Phe	159440.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	OMIM	19	cd05886	295391071,NP_000521
4359	127721	Disease	p.Tyr145Ser	159440.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	249	smart00409	295391071,NP_000521
4359	127721	Disease	p.Tyr145Ser	159440.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	249	smart00410	295391071,NP_000521
4359	127721	Disease	p.Tyr145Ser	159440.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	115	cd05880	295391071,NP_000521
4359	127721	Disease	p.Tyr145Ser	159440.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	144	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Tyr145Ser	159440.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	118	cd05715	295391071,NP_000521
4359	127721	Disease	p.Tyr145Ser	159440.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	115	cd05879	295391071,NP_000521
4359	127721	Disease	p.Tyr145Ser	159440.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	108	cd05718	295391071,NP_000521
4359	127721	Disease	p.Tyr145Ser	159440.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	104	cd05886	295391071,NP_000521
4359	127721	Disease	p.Asp60His	159440.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	37	smart00409	295391071,NP_000521
4359	127721	Disease	p.Asp60His	159440.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	37	smart00410	295391071,NP_000521
4359	127721	Disease	p.Asp60His	159440.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	31	cd05880	295391071,NP_000521
4359	127721	Disease	p.Asp60His	159440.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	25	cd00096	295391071,NP_000521
4359	127721	Disease	p.Asp60His	159440.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	29	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Asp60His	159440.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	23	smart00406	295391071,NP_000521
4359	127721	Disease	p.Asp60His	159440.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	31	cd05715	295391071,NP_000521
4359	127721	Disease	p.Asp60His	159440.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	30	cd05879	295391071,NP_000521
4359	127721	Disease	p.Asp60His	159440.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	18	cd05718	295391071,NP_000521
4359	127721	Disease	p.Asp60His	159440.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	17	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ile62Met	159440.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	39	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ile62Met	159440.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	39	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ile62Met	159440.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	33	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ile62Met	159440.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	27	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ile62Met	159440.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	31	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ile62Met	159440.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	25	smart00406	295391071,NP_000521
4359	127721	Disease	p.Ile62Met	159440.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	33	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ile62Met	159440.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	32	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ile62Met	159440.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	20	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ile62Met	159440.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	OMIM	19	cd05886	295391071,NP_000521
4359	127721	Disease	p.Glu97Val	159440.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	118	smart00409	295391071,NP_000521
4359	127721	Disease	p.Glu97Val	159440.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	118	smart00410	295391071,NP_000521
4359	127721	Disease	p.Glu97Val	159440.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	67	cd05880	295391071,NP_000521
4359	127721	Disease	p.Glu97Val	159440.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	79	cd00096	295391071,NP_000521
4359	127721	Disease	p.Glu97Val	159440.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	81	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Glu97Val	159440.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	86	smart00406	295391071,NP_000521
4359	127721	Disease	p.Glu97Val	159440.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	70	cd05715	295391071,NP_000521
4359	127721	Disease	p.Glu97Val	159440.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	67	cd05879	295391071,NP_000521
4359	127721	Disease	p.Glu97Val	159440.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	55	cd05718	295391071,NP_000521
4359	127721	Disease	p.Glu97Val	159440.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	57	cd05886	295391071,NP_000521
4359	127721	Disease	p.Thr124Lys	159440.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT	OMIM	197	smart00409	295391071,NP_000521
4359	127721	Disease	p.Thr124Lys	159440.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT	OMIM	197	smart00410	295391071,NP_000521
4359	127721	Disease	p.Thr124Lys	159440.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT	OMIM	94	cd05880	295391071,NP_000521
4359	127721	Disease	p.Thr124Lys	159440.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT	OMIM	122	cd00096	295391071,NP_000521
4359	127721	Disease	p.Thr124Lys	159440.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT	OMIM	109	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Thr124Lys	159440.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT	OMIM	125	smart00406	295391071,NP_000521
4359	127721	Disease	p.Thr124Lys	159440.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT	OMIM	97	cd05715	295391071,NP_000521
4359	127721	Disease	p.Thr124Lys	159440.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT	OMIM	94	cd05879	295391071,NP_000521
4359	127721	Disease	p.Thr124Lys	159440.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT	OMIM	88	cd05718	295391071,NP_000521
4359	127721	Disease	p.Thr124Lys	159440.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT	OMIM	84	cd05886	295391071,NP_000521
4359	127721	Disease	p.Gly123Ser	159440.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	196	smart00409	295391071,NP_000521
4359	127721	Disease	p.Gly123Ser	159440.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	196	smart00410	295391071,NP_000521
4359	127721	Disease	p.Gly123Ser	159440.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	93	cd05880	295391071,NP_000521
4359	127721	Disease	p.Gly123Ser	159440.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	121	cd00096	295391071,NP_000521
4359	127721	Disease	p.Gly123Ser	159440.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	108	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Gly123Ser	159440.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	124	smart00406	295391071,NP_000521
4359	127721	Disease	p.Gly123Ser	159440.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	96	cd05715	295391071,NP_000521
4359	127721	Disease	p.Gly123Ser	159440.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	93	cd05879	295391071,NP_000521
4359	127721	Disease	p.Gly123Ser	159440.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	87	cd05718	295391071,NP_000521
4359	127721	Disease	p.Gly123Ser	159440.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	83	cd05886	295391071,NP_000521
4359	127721	Disease	p.Pro105Thr	159440.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	154	smart00409	295391071,NP_000521
4359	127721	Disease	p.Pro105Thr	159440.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	154	smart00410	295391071,NP_000521
4359	127721	Disease	p.Pro105Thr	159440.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	75	cd05880	295391071,NP_000521
4359	127721	Disease	p.Pro105Thr	159440.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	87	cd00096	295391071,NP_000521
4359	127721	Disease	p.Pro105Thr	159440.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	89	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Pro105Thr	159440.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	94	smart00406	295391071,NP_000521
4359	127721	Disease	p.Pro105Thr	159440.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	78	cd05715	295391071,NP_000521
4359	127721	Disease	p.Pro105Thr	159440.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	75	cd05879	295391071,NP_000521
4359	127721	Disease	p.Pro105Thr	159440.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	63	cd05718	295391071,NP_000521
4359	127721	Disease	p.Pro105Thr	159440.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	OMIM	65	cd05886	295391071,NP_000521
4359	127721	Disease	p.Val102Val	159440.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	151	smart00409	295391071,NP_000521
4359	127721	Disease	p.Val102Val	159440.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	151	smart00410	295391071,NP_000521
4359	127721	Disease	p.Val102Val	159440.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	72	cd05880	295391071,NP_000521
4359	127721	Disease	p.Val102Val	159440.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	84	cd00096	295391071,NP_000521
4359	127721	Disease	p.Val102Val	159440.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	86	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Val102Val	159440.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	91	smart00406	295391071,NP_000521
4359	127721	Disease	p.Val102Val	159440.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	75	cd05715	295391071,NP_000521
4359	127721	Disease	p.Val102Val	159440.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	72	cd05879	295391071,NP_000521
4359	127721	Disease	p.Val102Val	159440.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	60	cd05718	295391071,NP_000521
4359	127721	Disease	p.Val102Val	159440.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	62	cd05886	295391071,NP_000521
4359	127721	Disease	p.Asp195Tyr	159440.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=159440	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B	OMIM	17	pfam10570	295391071,NP_000521
4719	92090799	Disease	p.Asp252Gly	157655.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157655	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	290	COG3383	33519475,NP_004997
4719	92090799	Disease	p.Asp252Gly	157655.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157655	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	4	cd02771	33519475,NP_004997
4719	92090799	Disease	p.Asp252Gly	157655.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157655	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	4	cd02772	33519475,NP_004997
4719	92090799	Disease	p.Asp252Gly	157655.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157655	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	4	cd02773	33519475,NP_004997
4719	92090799	Disease	p.Asp252Gly	157655.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157655	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	4	cd02768	33519475,NP_004997
4719	92090799	Disease	p.Asp252Gly	157655.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157655	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	4	cd00368	33519475,NP_004997
4719	92090799	Disease	p.Asp252Gly	157655.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157655	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	4	cd02774	33519475,NP_004997
4719	92090799	Disease	p.Asp252Gly	157655.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157655	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	280	COG1034	33519475,NP_004997
4719	92090799	Disease	p.Arg241Trp	157655.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157655	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	239	COG3383	33519475,NP_004997
4719	92090799	Disease	p.Arg241Trp	157655.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157655	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	269	COG1034	33519475,NP_004997
4719	92090799	Disease	p.Leu231Val	157655.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157655	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	229	COG3383	33519475,NP_004997
4719	92090799	Disease	p.Leu231Val	157655.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157655	MITOCHONDRIAL COMPLEX I DEFICIENCY	OMIM	258	COG1034	33519475,NP_004997
4490	127367	Disease	p.Arg540His	157147.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157147	ABETALIPOPROTEINEMIA	OMIM	No Domain	N/A	27414495,NP_005938
4490	127367	Disease	p.Asn780Tyr	157147.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157147	ABETALIPOPROTEINEMIA	OMIM	No Domain	N/A	27414495,NP_005938
4490	127367	Disease	p.Ser590Ile	157147.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157147	ABETALIPOPROTEINEMIA	OMIM	No Domain	N/A	27414495,NP_005938
4490	127367	Disease	p.Ile128Thr	157147.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157147	METABOLIC SYNDROME, PROTECTION AGAINST	OMIM	No Domain	N/A	27414495,NP_005938
4137	8400711	Disease	p.Pro301Leu	157140.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM||SUPRANUCLEAR PALSY, PROGRESSIVE	OMIM	24	pfam00418	NULL
4137	6754638	Disease	p.Pro301Leu	157140.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM||SUPRANUCLEAR PALSY, PROGRESSIVE	OMIM	29	pfam00418	NULL
4137	8400715	Disease	p.Pro301Leu	157140.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM||SUPRANUCLEAR PALSY, PROGRESSIVE	OMIM	No Domain	N/A	NULL
4137	294862258	Disease	p.Pro301Leu	157140.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM||SUPRANUCLEAR PALSY, PROGRESSIVE	OMIM	No Domain	N/A	NULL
4137	294862261	Disease	p.Pro301Leu	157140.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM||SUPRANUCLEAR PALSY, PROGRESSIVE	OMIM	No Domain	N/A	NULL
4137	178557736	Disease	p.Pro301Leu	157140.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM||SUPRANUCLEAR PALSY, PROGRESSIVE	OMIM	27	pfam00418	NULL
4137	8400711	Disease	p.Gly272Val	157140.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	27	pfam00418	NULL
4137	6754638	Disease	p.Gly272Val	157140.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	31	pfam00418	NULL
4137	8400715	Disease	p.Gly272Val	157140.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	26	pfam00418	NULL
4137	294862258	Disease	p.Gly272Val	157140.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	294862261	Disease	p.Gly272Val	157140.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	178557736	Disease	p.Gly272Val	157140.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	29	pfam00418	NULL
4137	8400711	Disease	p.Arg406Trp	157140.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL	OMIM	No Domain	N/A	NULL
4137	6754638	Disease	p.Arg406Trp	157140.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL	OMIM	No Domain	N/A	NULL
4137	8400715	Disease	p.Arg406Trp	157140.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL	OMIM	No Domain	N/A	NULL
4137	294862258	Disease	p.Arg406Trp	157140.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL	OMIM	No Domain	N/A	NULL
4137	294862261	Disease	p.Arg406Trp	157140.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL	OMIM	No Domain	N/A	NULL
4137	178557736	Disease	p.Arg406Trp	157140.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL	OMIM	No Domain	N/A	NULL
4137	8400711	Disease	p.Val337Met	157140.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	6754638	Disease	p.Val337Met	157140.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	8400715	Disease	p.Val337Met	157140.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	294862258	Disease	p.Val337Met	157140.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	294862261	Disease	p.Val337Met	157140.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	178557736	Disease	p.Val337Met	157140.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	31	pfam00418	NULL
4137	8400711	Disease	p.Asn279Lys	157140.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	6754638	Disease	p.Asn279Lys	157140.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	5	pfam00418	NULL
4137	8400715	Disease	p.Asn279Lys	157140.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	294862258	Disease	p.Asn279Lys	157140.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	294862261	Disease	p.Asn279Lys	157140.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	178557736	Disease	p.Asn279Lys	157140.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	3	pfam00418	NULL
4137	8400711	Disease	p.Ser305Asn	157140.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	28	pfam00418	NULL
4137	6754638	Disease	p.Ser305Asn	157140.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	8400715	Disease	p.Ser305Asn	157140.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	294862258	Disease	p.Ser305Asn	157140.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	294862261	Disease	p.Ser305Asn	157140.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	178557736	Disease	p.Ser305Asn	157140.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	31	pfam00418	NULL
4137	8400711	Disease	p.Gly389Arg	157140.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	No Domain	N/A	NULL
4137	6754638	Disease	p.Gly389Arg	157140.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	No Domain	N/A	NULL
4137	8400715	Disease	p.Gly389Arg	157140.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	No Domain	N/A	NULL
4137	294862258	Disease	p.Gly389Arg	157140.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	No Domain	N/A	NULL
4137	294862261	Disease	p.Gly389Arg	157140.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	No Domain	N/A	NULL
4137	178557736	Disease	p.Gly389Arg	157140.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	No Domain	N/A	NULL
4137	8400711	Disease	p.Pro301Ser	157140.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	24	pfam00418	NULL
4137	6754638	Disease	p.Pro301Ser	157140.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	29	pfam00418	NULL
4137	8400715	Disease	p.Pro301Ser	157140.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	294862258	Disease	p.Pro301Ser	157140.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	294862261	Disease	p.Pro301Ser	157140.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	178557736	Disease	p.Pro301Ser	157140.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	27	pfam00418	NULL
4137	8400711	Disease	p.Asn296Asn	157140.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL	OMIM	19	pfam00418	NULL
4137	6754638	Disease	p.Asn296Asn	157140.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL	OMIM	24	pfam00418	NULL
4137	8400715	Disease	p.Asn296Asn	157140.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL	OMIM	No Domain	N/A	NULL
4137	294862258	Disease	p.Asn296Asn	157140.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL	OMIM	No Domain	N/A	NULL
4137	294862261	Disease	p.Asn296Asn	157140.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL	OMIM	No Domain	N/A	NULL
4137	178557736	Disease	p.Asn296Asn	157140.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL	OMIM	22	pfam00418	NULL
4137	8400711	Disease	p.Glu342Val	157140.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	6754638	Disease	p.Glu342Val	157140.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	6	pfam00418	NULL
4137	8400715	Disease	p.Glu342Val	157140.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	294862258	Disease	p.Glu342Val	157140.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	294862261	Disease	p.Glu342Val	157140.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	178557736	Disease	p.Glu342Val	157140.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	8400711	Disease	p.Lys257Thr	157140.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	11	pfam00418	NULL
4137	6754638	Disease	p.Lys257Thr	157140.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	16	pfam00418	NULL
4137	8400715	Disease	p.Lys257Thr	157140.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	11	pfam00418	NULL
4137	294862258	Disease	p.Lys257Thr	157140.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	No Domain	N/A	NULL
4137	294862261	Disease	p.Lys257Thr	157140.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	No Domain	N/A	NULL
4137	178557736	Disease	p.Lys257Thr	157140.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	14	pfam00418	NULL
4137	8400711	Disease	p.Lys369Ile	157140.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	No Domain	N/A	NULL
4137	6754638	Disease	p.Lys369Ile	157140.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	No Domain	N/A	NULL
4137	8400715	Disease	p.Lys369Ile	157140.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	No Domain	N/A	NULL
4137	294862258	Disease	p.Lys369Ile	157140.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	No Domain	N/A	NULL
4137	294862261	Disease	p.Lys369Ile	157140.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	No Domain	N/A	NULL
4137	178557736	Disease	p.Lys369Ile	157140.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	No Domain	N/A	NULL
4137	8400711	Disease	p.Arg5His	157140.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	6754638	Disease	p.Arg5His	157140.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	8400715	Disease	p.Arg5His	157140.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	294862258	Disease	p.Arg5His	157140.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	294862261	Disease	p.Arg5His	157140.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	178557736	Disease	p.Arg5His	157140.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	8400711	Disease	p.Ser320Phe	157140.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	No Domain	N/A	NULL
4137	6754638	Disease	p.Ser320Phe	157140.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	17	pfam00418	NULL
4137	8400715	Disease	p.Ser320Phe	157140.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	No Domain	N/A	NULL
4137	294862258	Disease	p.Ser320Phe	157140.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	No Domain	N/A	NULL
4137	294862261	Disease	p.Ser320Phe	157140.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	No Domain	N/A	NULL
4137	178557736	Disease	p.Ser320Phe	157140.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	PICK DISEASE	OMIM	14	pfam00418	NULL
4137	8400711	Disease	p.Arg5Leu	157140.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	SUPRANUCLEAR PALSY, PROGRESSIVE	OMIM	No Domain	N/A	NULL
4137	6754638	Disease	p.Arg5Leu	157140.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	SUPRANUCLEAR PALSY, PROGRESSIVE	OMIM	No Domain	N/A	NULL
4137	8400715	Disease	p.Arg5Leu	157140.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	SUPRANUCLEAR PALSY, PROGRESSIVE	OMIM	No Domain	N/A	NULL
4137	294862258	Disease	p.Arg5Leu	157140.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	SUPRANUCLEAR PALSY, PROGRESSIVE	OMIM	No Domain	N/A	NULL
4137	294862261	Disease	p.Arg5Leu	157140.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	SUPRANUCLEAR PALSY, PROGRESSIVE	OMIM	No Domain	N/A	NULL
4137	178557736	Disease	p.Arg5Leu	157140.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	SUPRANUCLEAR PALSY, PROGRESSIVE	OMIM	No Domain	N/A	NULL
4137	8400711	Disease	p.Leu266Val	157140.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL	OMIM	21	pfam00418	NULL
4137	6754638	Disease	p.Leu266Val	157140.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL	OMIM	25	pfam00418	NULL
4137	8400715	Disease	p.Leu266Val	157140.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL	OMIM	20	pfam00418	NULL
4137	294862258	Disease	p.Leu266Val	157140.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL	OMIM	No Domain	N/A	NULL
4137	294862261	Disease	p.Leu266Val	157140.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL	OMIM	No Domain	N/A	NULL
4137	178557736	Disease	p.Leu266Val	157140.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL	OMIM	23	pfam00418	NULL
4137	8400711	Disease	p.Ser352Leu	157140.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	TAUOPATHY AND RESPIRATORY FAILURE	OMIM	No Domain	N/A	NULL
4137	6754638	Disease	p.Ser352Leu	157140.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	TAUOPATHY AND RESPIRATORY FAILURE	OMIM	17	pfam00418	NULL
4137	8400715	Disease	p.Ser352Leu	157140.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	TAUOPATHY AND RESPIRATORY FAILURE	OMIM	No Domain	N/A	NULL
4137	294862258	Disease	p.Ser352Leu	157140.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	TAUOPATHY AND RESPIRATORY FAILURE	OMIM	No Domain	N/A	NULL
4137	294862261	Disease	p.Ser352Leu	157140.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	TAUOPATHY AND RESPIRATORY FAILURE	OMIM	No Domain	N/A	NULL
4137	178557736	Disease	p.Ser352Leu	157140.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	TAUOPATHY AND RESPIRATORY FAILURE	OMIM	No Domain	N/A	NULL
4137	8400711	Disease	p.Lys317Met	157140.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	6754638	Disease	p.Lys317Met	157140.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	14	pfam00418	NULL
4137	8400715	Disease	p.Lys317Met	157140.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	294862258	Disease	p.Lys317Met	157140.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	294862261	Disease	p.Lys317Met	157140.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	No Domain	N/A	NULL
4137	178557736	Disease	p.Lys317Met	157140.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM	OMIM	11	pfam00418	NULL
4137	8400711	Disease	p.Gly303Val	157140.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	SUPRANUCLEAR PALSY, PROGRESSIVE	OMIM	26	pfam00418	NULL
4137	6754638	Disease	p.Gly303Val	157140.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	SUPRANUCLEAR PALSY, PROGRESSIVE	OMIM	31	pfam00418	NULL
4137	8400715	Disease	p.Gly303Val	157140.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	SUPRANUCLEAR PALSY, PROGRESSIVE	OMIM	No Domain	N/A	NULL
4137	294862258	Disease	p.Gly303Val	157140.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	SUPRANUCLEAR PALSY, PROGRESSIVE	OMIM	No Domain	N/A	NULL
4137	294862261	Disease	p.Gly303Val	157140.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	SUPRANUCLEAR PALSY, PROGRESSIVE	OMIM	No Domain	N/A	NULL
4137	178557736	Disease	p.Gly303Val	157140.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=157140	SUPRANUCLEAR PALSY, PROGRESSIVE	OMIM	29	pfam00418	NULL
4286	296841087	Disease	p.Ser250Pro	156845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	No Domain	N/A	NULL
4286	38156697	Disease	p.Ser250Pro	156845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	127	smart00353	NULL
4286	38156697	Disease	p.Ser250Pro	156845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	91	pfam00010	NULL
4286	38156697	Disease	p.Ser250Pro	156845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	87	cd00083	NULL
4286	38156703	Disease	p.Ser250Pro	156845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	No Domain	N/A	NULL
4286	4557755	Disease	p.Ser250Pro	156845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	85	pfam00010	NULL
4286	4557755	Disease	p.Ser250Pro	156845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	119	smart00353	NULL
4286	4557755	Disease	p.Ser250Pro	156845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	81	cd00083	NULL
4286	38156699	Disease	p.Ser250Pro	156845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	No Domain	N/A	NULL
4286	296841085	Disease	p.Ser250Pro	156845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	No Domain	N/A	NULL
4286	296923804	Disease	p.Ser250Pro	156845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	27	pfam11851	NULL
4286	38156701	Disease	p.Ser250Pro	156845.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	No Domain	N/A	NULL
4286	296841087	Disease	p.Asn210Lys	156845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	TIETZ ALBINISM-DEAFNESS SYNDROME	OMIM	No Domain	N/A	NULL
4286	38156697	Disease	p.Asn210Lys	156845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	TIETZ ALBINISM-DEAFNESS SYNDROME	OMIM	10	smart00353	NULL
4286	38156697	Disease	p.Asn210Lys	156845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	TIETZ ALBINISM-DEAFNESS SYNDROME	OMIM	12	pfam00010	NULL
4286	38156697	Disease	p.Asn210Lys	156845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	TIETZ ALBINISM-DEAFNESS SYNDROME	OMIM	15	cd00083	NULL
4286	38156703	Disease	p.Asn210Lys	156845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	TIETZ ALBINISM-DEAFNESS SYNDROME	OMIM	No Domain	N/A	NULL
4286	4557755	Disease	p.Asn210Lys	156845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	TIETZ ALBINISM-DEAFNESS SYNDROME	OMIM	6	pfam00010	NULL
4286	4557755	Disease	p.Asn210Lys	156845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	TIETZ ALBINISM-DEAFNESS SYNDROME	OMIM	9	cd00083	NULL
4286	38156699	Disease	p.Asn210Lys	156845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	TIETZ ALBINISM-DEAFNESS SYNDROME	OMIM	No Domain	N/A	NULL
4286	296841085	Disease	p.Asn210Lys	156845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	TIETZ ALBINISM-DEAFNESS SYNDROME	OMIM	No Domain	N/A	NULL
4286	296923804	Disease	p.Asn210Lys	156845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	TIETZ ALBINISM-DEAFNESS SYNDROME	OMIM	No Domain	N/A	NULL
4286	38156701	Disease	p.Asn210Lys	156845.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	TIETZ ALBINISM-DEAFNESS SYNDROME	OMIM	No Domain	N/A	NULL
4286	296841087	Disease	p.Ser298Pro	156845.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	No Domain	N/A	NULL
4286	38156697	Disease	p.Ser298Pro	156845.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	16	pfam11851	NULL
4286	38156703	Disease	p.Ser298Pro	156845.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	4	smart00353	NULL
4286	38156703	Disease	p.Ser298Pro	156845.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	12	cd00083	NULL
4286	38156703	Disease	p.Ser298Pro	156845.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	9	pfam00010	NULL
4286	4557755	Disease	p.Ser298Pro	156845.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	10	pfam11851	NULL
4286	38156699	Disease	p.Ser298Pro	156845.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	No Domain	N/A	NULL
4286	296841085	Disease	p.Ser298Pro	156845.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	84	pfam00010	NULL
4286	296841085	Disease	p.Ser298Pro	156845.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	80	cd00083	NULL
4286	296841085	Disease	p.Ser298Pro	156845.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	118	smart00353	NULL
4286	296923804	Disease	p.Ser298Pro	156845.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	182	pfam11851	NULL
4286	38156701	Disease	p.Ser298Pro	156845.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156845	WAARDENBURG SYNDROME, TYPE 2A	OMIM	No Domain	N/A	NULL
4548	2842762	Disease	p.Pro1173Leu	156570.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156570	METHYLCOBALAMIN DEFICIENCY, cblG TYPE	OMIM	895	COG1410	169790923,NP_000245
4548	2842762	Disease	p.Pro1173Leu	156570.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156570	METHYLCOBALAMIN DEFICIENCY, cblG TYPE	OMIM	86	pfam02965	169790923,NP_000245
4548	2842762	Disease	p.His920Asp	156570.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156570	METHYLCOBALAMIN DEFICIENCY, cblG TYPE	OMIM	602	COG1410	169790923,NP_000245
4548	2842762	Disease	p.Ala410Pro	156570.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156570	METHYLCOBALAMIN DEFICIENCY, cblG TYPE	OMIM	40	cd00423	169790923,NP_000245
4548	2842762	Disease	p.Ala410Pro	156570.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156570	METHYLCOBALAMIN DEFICIENCY, cblG TYPE	OMIM	40	cd00740	169790923,NP_000245
4548	2842762	Disease	p.Ala410Pro	156570.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156570	METHYLCOBALAMIN DEFICIENCY, cblG TYPE	OMIM	44	pfam00809	169790923,NP_000245
4548	2842762	Disease	p.Ala410Pro	156570.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156570	METHYLCOBALAMIN DEFICIENCY, cblG TYPE	OMIM	68	COG1410	169790923,NP_000245
3908	28559088	Disease	p.Leu2564Pro	156225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156225	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT	OMIM	58	cd00110	NULL
3908	28559088	Disease	p.Leu2564Pro	156225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156225	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT	OMIM	43	smart00282	NULL
3908	28559088	Disease	p.Leu2564Pro	156225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156225	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT	OMIM	14	pfam02210	NULL
3908	28559088	Disease	p.Leu2564Pro	156225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156225	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT	OMIM	11	pfam00054	NULL
3908	119466532	Disease	p.Leu2564Pro	156225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156225	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT	OMIM	15	pfam00054	NULL
3908	119466532	Disease	p.Leu2564Pro	156225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156225	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT	OMIM	18	pfam02210	NULL
3908	119466532	Disease	p.Leu2564Pro	156225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156225	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT	OMIM	62	cd00110	NULL
3908	119466532	Disease	p.Leu2564Pro	156225.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156225	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT	OMIM	64	smart00282	NULL
3908	28559088	Disease	p.Cys862Arg	156225.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156225	MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY	OMIM	94	cd00055	NULL
3908	119466532	Disease	p.Cys862Arg	156225.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156225	MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY	OMIM	94	cd00055	NULL
3908	28559088	Disease	p.Cys527Tyr	156225.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156225	MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY	OMIM	No Domain	N/A	NULL
3908	119466532	Disease	p.Cys527Tyr	156225.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156225	MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY	OMIM	No Domain	N/A	NULL
176	256017259	Disease	p.Asp2267Asn	155760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE	OMIM	No Domain	N/A	NULL
176	256017257	Disease	p.Asp2267Asn	155760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE	OMIM	No Domain	N/A	NULL
176	256017259	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	16	cd03600	NULL
176	256017259	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	13	cd03592	NULL
176	256017259	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	13	cd03591	NULL
176	256017259	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	14	cd03598	NULL
176	256017259	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	27	cd03595	NULL
176	256017259	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	15	cd03603	NULL
176	256017259	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	30	cd00037	NULL
176	256017259	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	12	cd03602	NULL
176	256017259	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	5	pfam00059	NULL
176	256017259	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	15	cd03601	NULL
176	256017259	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	22	cd03588	NULL
176	256017259	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	66	smart00034	NULL
176	256017259	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	26	cd03593	NULL
176	256017259	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	27	cd03590	NULL
176	256017259	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	21	cd03596	NULL
176	256017259	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	22	cd03594	NULL
176	256017259	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	23	cd03589	NULL
176	256017257	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	54	cd00054	NULL
176	256017257	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	36	pfam00008	NULL
176	256017257	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	52	cd00053	NULL
176	256017257	Disease	p.Val2303Met	155760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155760	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS	OMIM	56	smart00181	NULL
4157	12644376	Disease	p.Asp294His	155555.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155555	SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN	OMIM	426	pfam00001	193083134,NP_002377
4157	12644376	Disease	p.Val92Met	155555.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155555	SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN||SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN	OMIM	36	pfam00001	193083134,NP_002377
4157	12644376	Disease	p.Arg151Cys	155555.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155555	SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN||INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC||OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF||PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO	OMIM	101	pfam00001	193083134,NP_002377
4157	12644376	Disease	p.Arg160Trp	155555.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155555	SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN||INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC||OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF	OMIM	112	pfam00001	193083134,NP_002377
4157	12644376	Disease	p.Val60Leu	155555.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155555	SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN	OMIM	No Domain	N/A	193083134,NP_002377
4157	12644376	Disease	p.Thr157Ile	155555.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155555	UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO	OMIM	107	pfam00001	193083134,NP_002377
4157	12644376	Disease	p.Pro159Thr	155555.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155555	UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO	OMIM	111	pfam00001	193083134,NP_002377
4160	60392672	Disease	p.Asp37Val	155541.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	No Domain	N/A	119508433,NP_005903
4160	60392672	Disease	p.Val50Met	155541.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	No Domain	N/A	119508433,NP_005903
4160	60392672	Disease	p.Ser58Cys	155541.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	4	pfam10320	119508433,NP_005903
4160	60392672	Disease	p.Ile102Ser	155541.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	40	pfam00001	119508433,NP_005903
4160	60392672	Disease	p.Ile102Ser	155541.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	48	pfam10320	119508433,NP_005903
4160	60392672	Disease	p.Ile170Val	155541.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	117	pfam00001	119508433,NP_005903
4160	60392672	Disease	p.Ile170Val	155541.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	110	pfam10320	119508433,NP_005903
4160	60392672	Disease	p.Asn274Ser	155541.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	395	pfam00001	119508433,NP_005903
4160	60392672	Disease	p.Asn274Ser	155541.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	243	pfam10320	119508433,NP_005903
4160	60392672	Disease	p.Ile125Lys	155541.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	70	pfam00001	119508433,NP_005903
4160	60392672	Disease	p.Ile125Lys	155541.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	71	pfam10320	119508433,NP_005903
4160	60392672	Disease	p.Cys271Tyr	155541.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	392	pfam00001	119508433,NP_005903
4160	60392672	Disease	p.Cys271Tyr	155541.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	240	pfam10320	119508433,NP_005903
4160	60392672	Disease	p.Ala175Thr	155541.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	122	pfam00001	119508433,NP_005903
4160	60392672	Disease	p.Ala175Thr	155541.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	115	pfam10320	119508433,NP_005903
4160	60392672	Disease	p.Ile316Ser	155541.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	283	pfam10320	119508433,NP_005903
4160	60392672	Disease	p.Asn97Asp	155541.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	35	pfam00001	119508433,NP_005903
4160	60392672	Disease	p.Asn97Asp	155541.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	43	pfam10320	119508433,NP_005903
4160	60392672	Disease	p.Asn62Ser	155541.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	8	pfam10320	119508433,NP_005903
4160	60392672	Disease	p.Ser127Leu	155541.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	72	pfam00001	119508433,NP_005903
4160	60392672	Disease	p.Ser127Leu	155541.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	71_G	pfam10320	119508433,NP_005903
4160	60392672	Disease	p.Ala219Val	155541.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	195	pfam00001	119508433,NP_005903
4160	60392672	Disease	p.Ala219Val	155541.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155541	OBESITY	OMIM	184	pfam10320	119508433,NP_005903
4159	170671732	Disease	p.Ile183Asn	155540.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155540	OBESITY, SUSCEPTIBILITY TO	OMIM	131	pfam10320	NULL
4159	170671732	Disease	p.Ile183Asn	155540.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155540	OBESITY, SUSCEPTIBILITY TO	OMIM	135	pfam00001	NULL
4159	170671732	Disease	p.Ile335Ser	155540.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155540	OBESITY, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
6590	113636	Disease	p.Arg219Gln	154550.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154550	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib	OMIM	No Domain	N/A	4507065,NP_003055
6590	113636	Disease	p.Ser102Leu	154550.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154550	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib	OMIM	22	smart00217	4507065,NP_003055
6590	113636	Disease	p.Ser102Leu	154550.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154550	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib	OMIM	32	pfam00095	4507065,NP_003055
6590	113636	Disease	p.Ser102Leu	154550.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154550	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib	OMIM	49	cd00199	4507065,NP_003055
6590	113636	Disease	p.Met138Thr	154550.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154550	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib	OMIM	No Domain	N/A	4507065,NP_003055
6590	113636	Disease	p.Arg295His	154550.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154550	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib	OMIM	No Domain	N/A	4507065,NP_003055
4153	126676	Disease	p.Gly54Asp	154545.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154545	MANNOSE-BINDING PROTEIN DEFICIENCY||GESTATIONAL DIABETES MELLITUS, SUSCEPTIBILITY TO	OMIM	13	pfam01391	4557739,NP_000233
4153	126676	Disease	p.Gly57Glu	154545.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154545	MANNOSE-BINDING PROTEIN DEFICIENCY	OMIM	16	pfam01391	4557739,NP_000233
4153	126676	Disease	p.Arg52Cys	154545.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154545	MANNOSE-BINDING PROTEIN DEFICIENCY||PRETERM DELIVERY, SUSCEPTIBILITY TO	OMIM	11	pfam01391	4557739,NP_000233
4285	156105687	Disease	p.Thr138Arg	154050.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154050	CATARACT, POLYMORPHIC AND LAMELLAR	OMIM	99	COG0339	NULL
4285	156105687	Disease	p.Glu134Gly	154050.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154050	CATARACT, POLYMORPHIC AND LAMELLAR	OMIM	95	COG0339	NULL
3982	21361300	Disease	p.Phe105Val	154045.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154045	CATARACT, CORTICAL PULVERULENT, LATE-ONSET	OMIM	89	pfam00822	NULL
3982	17433717	Disease	p.Phe105Val	154045.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=154045	CATARACT, CORTICAL PULVERULENT, LATE-ONSET	OMIM	140	pfam00822	239916002,NP_001155220
4016	189031484	Disease	p.Arg141Leu	153456.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153456	EXFOLIATION SYNDROME, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	67782346,NP_005567
4016	189031484	Disease	p.Gly153Asp	153456.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153456	EXFOLIATION SYNDROME, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	67782346,NP_005567
4015	417269	Disease	p.Arg158Gln	153455.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153455	LYSYL OXIDASE POLYMORPHISM	OMIM	No Domain	N/A	20149540,NP_002308
4015	296010940	Disease	p.Arg158Gln	153455.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153455	LYSYL OXIDASE POLYMORPHISM	OMIM	177	pfam01186	NULL
5351	78099790	Disease	p.Gly678Arg	153454.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153454	EHLERS-DANLOS SYNDROME, TYPE VIA	OMIM	317	smart00702	32307144,NP_000293
5351	78099790	Disease	p.Gly678Arg	153454.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153454	EHLERS-DANLOS SYNDROME, TYPE VIA	OMIM	87	pfam03171	32307144,NP_000293
5351	78099790	Disease	p.Trp612Cys	153454.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153454	EHLERS-DANLOS SYNDROME, TYPE VIA	OMIM	94	smart00702	32307144,NP_000293
4069	48428995	Disease	p.Ile56Thr	153450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153450	AMYLOIDOSIS, FAMILIAL VISCERAL	OMIM	38	smart00263	4557894,NP_000230
4069	48428995	Disease	p.Ile56Thr	153450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153450	AMYLOIDOSIS, FAMILIAL VISCERAL	OMIM	38	pfam00062	4557894,NP_000230
4069	48428995	Disease	p.Ile56Thr	153450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153450	AMYLOIDOSIS, FAMILIAL VISCERAL	OMIM	38	cd00119	4557894,NP_000230
4069	48428995	Disease	p.Asp67His	153450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153450	AMYLOIDOSIS, FAMILIAL VISCERAL	OMIM	51	smart00263	4557894,NP_000230
4069	48428995	Disease	p.Asp67His	153450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153450	AMYLOIDOSIS, FAMILIAL VISCERAL	OMIM	49	pfam00062	4557894,NP_000230
4069	48428995	Disease	p.Asp67His	153450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153450	AMYLOIDOSIS, FAMILIAL VISCERAL	OMIM	50	cd00119	4557894,NP_000230
4069	48428995	Disease	p.Phe57Ile	153450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153450	AMYLOIDOSIS, FAMILIAL VISCERAL	OMIM	39	smart00263	4557894,NP_000230
4069	48428995	Disease	p.Phe57Ile	153450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153450	AMYLOIDOSIS, FAMILIAL VISCERAL	OMIM	39	pfam00062	4557894,NP_000230
4069	48428995	Disease	p.Phe57Ile	153450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153450	AMYLOIDOSIS, FAMILIAL VISCERAL	OMIM	39	cd00119	4557894,NP_000230
4049	135940	Disease	p.Thr26Asn	153440.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153440	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	229092381,NP_001153212|6806893,NP_000586
4049	135940	Disease	p.Thr26Asn	153440.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153440	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	229092381,NP_001153212|6806893,NP_000586
6402	262206315	Disease	p.Pro238Ser	153240.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153240	IgA NEPHROPATHY, SUSCEPTIBILITY TO	OMIM	47	smart00032	NULL
6402	262206315	Disease	p.Pro238Ser	153240.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153240	IgA NEPHROPATHY, SUSCEPTIBILITY TO	OMIM	42	pfam00084	NULL
6402	262206315	Disease	p.Pro238Ser	153240.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=153240	IgA NEPHROPATHY, SUSCEPTIBILITY TO	OMIM	43	cd00033	NULL
3973	281185513	Disease	p.Asp578Gly	152790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	PRECOCIOUS PUBERTY, MALE-LIMITED	OMIM	375	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Met575Ile	152790.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	PRECOCIOUS PUBERTY, MALE-LIMITED	OMIM	372	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Asp582Gly	152790.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	PRECOCIOUS PUBERTY, MALE-LIMITED	OMIM	379	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Ala593Pro	152790.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	LEYDIG CELL HYPOPLASIA, TYPE I||LUTEINIZING HORMONE RESISTANCE, FEMALE	OMIM	390	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Thr577Ile	152790.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	PRECOCIOUS PUBERTY, MALE-LIMITED	OMIM	374	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Ala572Val	152790.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	PRECOCIOUS PUBERTY, MALE-LIMITED	OMIM	369	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Ser616Tyr	152790.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	LEYDIG HYPOPLASIA, TYPE I	OMIM	423	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Met398Thr	152790.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	PRECOCIOUS PUBERTY, MALE-LIMITED	OMIM	21	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Asp578Gly	152790.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	PRECOCIOUS PUBERTY, MALE-LIMITED	OMIM	375	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Arg133Cys	152790.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	LEYDIG CELL HYPOPLASIA, TYPE II	OMIM	No Domain	N/A	106067657,NP_000224
3973	281185513	Disease	p.Ala373Val	152790.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	PRECOCIOUS PUBERTY, MALE-LIMITED	OMIM	No Domain	N/A	106067657,NP_000224
3973	281185513	Disease	p.Glu354Lys	152790.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	LEYDIG CELL HYPOPLASIA, TYPE I||LUTEINIZING HORMONE RESISTANCE, FEMALE	OMIM	No Domain	N/A	106067657,NP_000224
3973	281185513	Disease	p.Ile625Lys	152790.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	LEYDIG CELL HYPOPLASIA, TYPE II	OMIM	No Domain	N/A	106067657,NP_000224
3973	281185513	Disease	p.Ile542Leu	152790.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	PRECOCIOUS PUBERTY, MALE-LIMITED	OMIM	197	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Asp578His	152790.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	LEYDIG CELL ADENOMA, SOMATIC, WITH MALE-LIMITED PRECOCIOUS PUBERTY	OMIM	375	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Leu368Pro	152790.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	PRECOCIOUS PUBERTY, MALE-LIMITED	OMIM	No Domain	N/A	106067657,NP_000224
3973	281185513	Disease	p.Ala568Val	152790.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	PRECOCIOUS PUBERTY, MALE-LIMITED	OMIM	365	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Leu457Arg	152790.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	PRECOCIOUS PUBERTY, MALE-LIMITED	OMIM	85	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Cys343Ser	152790.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	LEYDIG CELL HYPOPLASIA, TYPE I	OMIM	No Domain	N/A	106067657,NP_000224
3973	281185513	Disease	p.Cys543Arg	152790.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	LEYDIG CELL HYPOPLASIA, TYPE I	OMIM	198	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Leu502Pro	152790.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	LEYDIG CELL HYPOPLASIA, TYPE I	OMIM	132	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Val144Phe	152790.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	LEYDIG CELL HYPOPLASIA, TYPE I	OMIM	No Domain	N/A	106067657,NP_000224
3973	281185513	Disease	p.Asp564Gly	152790.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790	PRECOCIOUS PUBERTY, MALE-LIMITED	OMIM	361	pfam00001	106067657,NP_000224
3972	1170834	Disease	p.Gln54Arg	152780.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152780	HYPOGONADISM, MALE	OMIM	30	smart00068	4504989,NP_000885
3972	1170834	Disease	p.Gln54Arg	152780.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152780	HYPOGONADISM, MALE	OMIM	32	pfam00007	4504989,NP_000885
3972	1170834	Disease	p.Gln54Arg	152780.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152780	HYPOGONADISM, MALE	OMIM	26	cd00069	4504989,NP_000885
3972	1170834	Disease	p.Trp8Arg	152780.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152780	LUTEINIZING HORMONE POLYMORPHISM	OMIM	No Domain	N/A	4504989,NP_000885
3972	1170834	Disease	p.Gly102Ser	152780.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152780	INFERTILITY, MALE AND FEMALE	OMIM	84	smart00068	4504989,NP_000885
3972	1170834	Disease	p.Gly102Ser	152780.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152780	INFERTILITY, MALE AND FEMALE	OMIM	82	pfam00007	4504989,NP_000885
3972	1170834	Disease	p.Gly102Ser	152780.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152780	INFERTILITY, MALE AND FEMALE	OMIM	76	cd00069	4504989,NP_000885
3972	1170834	Disease	p.Gly36Asp	152780.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152780	HYPOGONADISM, MALE	OMIM	12	smart00068	4504989,NP_000885
3972	1170834	Disease	p.Gly36Asp	152780.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152780	HYPOGONADISM, MALE	OMIM	14	pfam00007	4504989,NP_000885
3972	1170834	Disease	p.Gly36Asp	152780.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152780	HYPOGONADISM, MALE	OMIM	8	cd00069	4504989,NP_000885
3757	26051273	Disease	p.Ala561Val	152427.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	No Domain	N/A	NULL
3757	7531135	Disease	p.Ala561Val	152427.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	183	pfam00520	4557729,NP_000229
3757	26051271	Disease	p.Ala561Val	152427.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	183	pfam00520	NULL
3757	26051273	Disease	p.Asn470Asp	152427.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	138	smart00100	NULL
3757	26051273	Disease	p.Asn470Asp	152427.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	106	cd00038	NULL
3757	26051273	Disease	p.Asn470Asp	152427.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	92	pfam00027	NULL
3757	7531135	Disease	p.Asn470Asp	152427.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	17	pfam00520	4557729,NP_000229
3757	26051271	Disease	p.Asn470Asp	152427.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	17	pfam00520	NULL
3757	26051273	Disease	p.Ile593Arg	152427.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	No Domain	N/A	NULL
3757	7531135	Disease	p.Ile593Arg	152427.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	12	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Ile593Arg	152427.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	310	pfam00520	4557729,NP_000229
3757	26051271	Disease	p.Ile593Arg	152427.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	12	pfam07885	NULL
3757	26051271	Disease	p.Ile593Arg	152427.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	310	pfam00520	NULL
3757	26051273	Disease	p.Val822Met	152427.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	No Domain	N/A	NULL
3757	7531135	Disease	p.Val822Met	152427.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	109	pfam00027	4557729,NP_000229
3757	7531135	Disease	p.Val822Met	152427.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	173	smart00100	4557729,NP_000229
3757	7531135	Disease	p.Val822Met	152427.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	136	cd00038	4557729,NP_000229
3757	26051271	Disease	p.Val822Met	152427.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	195	smart00100	NULL
3757	26051273	Disease	p.Gly628Ser	152427.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	No Domain	N/A	NULL
3757	7531135	Disease	p.Gly628Ser	152427.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	57	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Gly628Ser	152427.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	345	pfam00520	4557729,NP_000229
3757	26051271	Disease	p.Gly628Ser	152427.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	57	pfam07885	NULL
3757	26051271	Disease	p.Gly628Ser	152427.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	345	pfam00520	NULL
3757	26051273	Disease	p.Arg582Cys	152427.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	No Domain	N/A	NULL
3757	7531135	Disease	p.Arg582Cys	152427.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	204	pfam00520	4557729,NP_000229
3757	26051271	Disease	p.Arg582Cys	152427.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	204	pfam00520	NULL
3757	26051273	Disease	p.Gly572Arg	152427.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	No Domain	N/A	NULL
3757	7531135	Disease	p.Gly572Arg	152427.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	194	pfam00520	4557729,NP_000229
3757	26051271	Disease	p.Gly572Arg	152427.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	194	pfam00520	NULL
3757	26051273	Disease	p.Ala490Thr	152427.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME, BRADYCARDIA-INDUCED	OMIM	202	smart00100	NULL
3757	26051273	Disease	p.Ala490Thr	152427.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME, BRADYCARDIA-INDUCED	OMIM	147	cd00038	NULL
3757	26051273	Disease	p.Ala490Thr	152427.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME, BRADYCARDIA-INDUCED	OMIM	123	pfam00027	NULL
3757	7531135	Disease	p.Ala490Thr	152427.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME, BRADYCARDIA-INDUCED	OMIM	45	pfam00520	4557729,NP_000229
3757	26051271	Disease	p.Ala490Thr	152427.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME, BRADYCARDIA-INDUCED	OMIM	45	pfam00520	NULL
3757	26051273	Disease	p.Ser818Leu	152427.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	No Domain	N/A	NULL
3757	7531135	Disease	p.Ser818Leu	152427.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	105	pfam00027	4557729,NP_000229
3757	7531135	Disease	p.Ser818Leu	152427.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	169	smart00100	4557729,NP_000229
3757	7531135	Disease	p.Ser818Leu	152427.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	132	cd00038	4557729,NP_000229
3757	26051271	Disease	p.Ser818Leu	152427.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	172	smart00100	NULL
3757	26051273	Disease	p.Arg784Trp	152427.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
3757	7531135	Disease	p.Arg784Trp	152427.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO	OMIM	28	pfam00027	4557729,NP_000229
3757	7531135	Disease	p.Arg784Trp	152427.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO	OMIM	56	smart00100	4557729,NP_000229
3757	7531135	Disease	p.Arg784Trp	152427.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO	OMIM	56	cd00038	4557729,NP_000229
3757	26051271	Disease	p.Arg784Trp	152427.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO	OMIM	56	smart00100	NULL
3757	26051273	Disease	p.Thr65Pro	152427.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	No Domain	N/A	NULL
3757	7531135	Disease	p.Thr65Pro	152427.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	41	cd00130	4557729,NP_000229
3757	26051271	Disease	p.Thr65Pro	152427.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	41	cd00130	NULL
3757	26051273	Disease	p.Arg752Gln	152427.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	No Domain	N/A	NULL
3757	7531135	Disease	p.Arg752Gln	152427.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	11	smart00100	4557729,NP_000229
3757	7531135	Disease	p.Arg752Gln	152427.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	16	cd00038	4557729,NP_000229
3757	26051271	Disease	p.Arg752Gln	152427.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	11	smart00100	NULL
3757	26051273	Disease	p.Asn588Lys	152427.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	SHORT QT SYNDROME 1	OMIM	No Domain	N/A	NULL
3757	7531135	Disease	p.Asn588Lys	152427.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	SHORT QT SYNDROME 1	OMIM	7	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Asn588Lys	152427.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	SHORT QT SYNDROME 1	OMIM	305	pfam00520	4557729,NP_000229
3757	26051271	Disease	p.Asn588Lys	152427.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	SHORT QT SYNDROME 1	OMIM	7	pfam07885	NULL
3757	26051271	Disease	p.Asn588Lys	152427.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	SHORT QT SYNDROME 1	OMIM	305	pfam00520	NULL
3757	26051273	Disease	p.Asn588Lys	152427.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	SHORT QT SYNDROME 1	OMIM	No Domain	N/A	NULL
3757	7531135	Disease	p.Asn588Lys	152427.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	SHORT QT SYNDROME 1	OMIM	7	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Asn588Lys	152427.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	SHORT QT SYNDROME 1	OMIM	305	pfam00520	4557729,NP_000229
3757	26051271	Disease	p.Asn588Lys	152427.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	SHORT QT SYNDROME 1	OMIM	7	pfam07885	NULL
3757	26051271	Disease	p.Asn588Lys	152427.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	SHORT QT SYNDROME 1	OMIM	305	pfam00520	NULL
3757	26051273	Disease	p.Asn861Ile	152427.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2||LONG QT SYNDROME 2/5, DIGENIC	OMIM	No Domain	N/A	NULL
3757	7531135	Disease	p.Asn861Ile	152427.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2||LONG QT SYNDROME 2/5, DIGENIC	OMIM	No Domain	N/A	4557729,NP_000229
3757	26051271	Disease	p.Asn861Ile	152427.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2||LONG QT SYNDROME 2/5, DIGENIC	OMIM	No Domain	N/A	NULL
3757	26051273	Disease	p.Arg948Cys	152427.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 1/2, DIGENIC	OMIM	No Domain	N/A	NULL
3757	7531135	Disease	p.Arg948Cys	152427.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 1/2, DIGENIC	OMIM	No Domain	N/A	4557729,NP_000229
3757	26051271	Disease	p.Arg948Cys	152427.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 1/2, DIGENIC	OMIM	No Domain	N/A	NULL
3757	26051273	Disease	p.Arg100Gly	152427.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2/3, DIGENIC	OMIM	No Domain	N/A	NULL
3757	7531135	Disease	p.Arg100Gly	152427.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2/3, DIGENIC	OMIM	8	smart00086	4557729,NP_000229
3757	7531135	Disease	p.Arg100Gly	152427.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2/3, DIGENIC	OMIM	95	cd00130	4557729,NP_000229
3757	26051271	Disease	p.Arg100Gly	152427.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2/3, DIGENIC	OMIM	8	smart00086	NULL
3757	26051271	Disease	p.Arg100Gly	152427.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2/3, DIGENIC	OMIM	95	cd00130	NULL
3757	26051273	Disease	p.Arg913Val	152427.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2||LONG QT SYNDROME 2/9, DIGENIC	OMIM	No Domain	N/A	NULL
3757	7531135	Disease	p.Arg913Val	152427.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2||LONG QT SYNDROME 2/9, DIGENIC	OMIM	No Domain	N/A	4557729,NP_000229
3757	26051271	Disease	p.Arg913Val	152427.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2||LONG QT SYNDROME 2/9, DIGENIC	OMIM	No Domain	N/A	NULL
3757	26051273	Disease	p.Ala558Pro	152427.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	No Domain	N/A	NULL
3757	7531135	Disease	p.Ala558Pro	152427.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	180	pfam00520	4557729,NP_000229
3757	26051271	Disease	p.Ala558Pro	152427.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427	LONG QT SYNDROME 2	OMIM	180	pfam00520	NULL
3990	194097335	Disease	p.Thr383Met	151670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151670	HEPATIC LIPASE DEFICIENCY	OMIM	33	cd01755	NULL
3990	194097335	Disease	p.Thr383Met	151670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151670	HEPATIC LIPASE DEFICIENCY	OMIM	33	cd01758	NULL
3990	194097335	Disease	p.Thr383Met	151670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151670	HEPATIC LIPASE DEFICIENCY	OMIM	34	pfam01477	NULL
3990	194097335	Disease	p.Thr383Met	151670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151670	HEPATIC LIPASE DEFICIENCY	OMIM	116	smart00308	NULL
3990	194097335	Disease	p.Thr383Met	151670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151670	HEPATIC LIPASE DEFICIENCY	OMIM	54	cd00113	NULL
3990	194097335	Disease	p.Ser267Phe	151670.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151670	HEPATIC LIPASE DEFICIENCY	OMIM	287	pfam00151	NULL
3990	194097335	Disease	p.Ser267Phe	151670.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151670	HEPATIC LIPASE DEFICIENCY	OMIM	653	cd00741	NULL
3990	194097335	Disease	p.Ser267Phe	151670.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151670	HEPATIC LIPASE DEFICIENCY	OMIM	275	cd00707	NULL
861	215274205	Disease	p.Arg201Gln	151385.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151385	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY	OMIM	No Domain	N/A	49574546,NP_001001890
861	169790837	Disease	p.Arg201Gln	151385.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151385	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY	OMIM	No Domain	N/A	NULL
861	19923198	Disease	p.Arg201Gln	151385.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151385	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY	OMIM	129	pfam00853	NULL
861	215274205	Disease	p.Lys83Glu	151385.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151385	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY	OMIM	38	pfam00853	49574546,NP_001001890
861	169790837	Disease	p.Lys83Glu	151385.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151385	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY	OMIM	38	pfam00853	NULL
861	19923198	Disease	p.Lys83Glu	151385.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151385	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY	OMIM	8	pfam00853	NULL
861	215274205	Disease	p.Ala107Pro	151385.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151385	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY	OMIM	62	pfam00853	49574546,NP_001001890
861	169790837	Disease	p.Ala107Pro	151385.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151385	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY	OMIM	62	pfam00853	NULL
861	19923198	Disease	p.Ala107Pro	151385.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151385	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY	OMIM	35	pfam00853	NULL
79742	193804856	Disease	p.Ala107Pro	151385.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151385	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Ala107Pro	151385.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151385	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
861	215274205	Disease	p.Ala129Glu	151385.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151385	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY	OMIM	84	pfam00853	49574546,NP_001001890
861	169790837	Disease	p.Ala129Glu	151385.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151385	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY	OMIM	84	pfam00853	NULL
861	19923198	Disease	p.Ala129Glu	151385.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151385	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY	OMIM	57	pfam00853	NULL
84823	23503078	Disease	p.Arg215Gln	150341.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150341	LIPODYSTROPHY, PARTIAL, ACQUIRED	OMIM	198	pfam00038	27436951,NP_116126
84823	23503078	Disease	p.Ala407Thr	150341.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150341	LIPODYSTROPHY, PARTIAL, ACQUIRED	OMIM	No Domain	N/A	27436951,NP_116126
4000	125962	Disease	p.Arg453Trp	150330.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT	OMIM	23	pfam00932	27436946,NP_733821
4000	27436948	Disease	p.Arg453Trp	150330.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT	OMIM	23	pfam00932	NULL
4000	5031875	Disease	p.Arg453Trp	150330.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT	OMIM	23	pfam00932	NULL
4000	125962	Disease	p.Arg527Pro	150330.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT||LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	140	pfam00932	27436946,NP_733821
4000	27436948	Disease	p.Arg527Pro	150330.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT||LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	140	pfam00932	NULL
4000	5031875	Disease	p.Arg527Pro	150330.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT||LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	140	pfam00932	NULL
4000	125962	Disease	p.Leu530Pro	150330.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT	OMIM	143	pfam00932	27436946,NP_733821
4000	27436948	Disease	p.Leu530Pro	150330.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT	OMIM	143	pfam00932	NULL
4000	5031875	Disease	p.Leu530Pro	150330.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT	OMIM	143	pfam00932	NULL
4000	125962	Disease	p.Arg60Gly	150330.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A||LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	31	pfam00038	27436946,NP_733821
4000	27436948	Disease	p.Arg60Gly	150330.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A||LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	31	pfam00038	NULL
4000	5031875	Disease	p.Arg60Gly	150330.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A||LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	31	pfam00038	NULL
4000	125962	Disease	p.Leu85Arg	150330.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A	OMIM	63	pfam00038	27436946,NP_733821
4000	27436948	Disease	p.Leu85Arg	150330.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A	OMIM	63	pfam00038	NULL
4000	5031875	Disease	p.Leu85Arg	150330.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A	OMIM	63	pfam00038	NULL
4000	125962	Disease	p.Asn195Lys	150330.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A	OMIM	173	pfam00038	27436946,NP_733821
4000	27436948	Disease	p.Asn195Lys	150330.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A	OMIM	173	pfam00038	NULL
4000	5031875	Disease	p.Asn195Lys	150330.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A	OMIM	173	pfam00038	NULL
4000	125962	Disease	p.Glu203Gly	150330.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A	OMIM	181	pfam00038	27436946,NP_733821
4000	27436948	Disease	p.Glu203Gly	150330.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A	OMIM	181	pfam00038	NULL
4000	5031875	Disease	p.Glu203Gly	150330.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A	OMIM	181	pfam00038	NULL
4000	125962	Disease	p.Arg571Ser	150330.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A	OMIM	No Domain	N/A	27436946,NP_733821
4000	27436948	Disease	p.Arg571Ser	150330.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A	OMIM	No Domain	N/A	NULL
4000	5031875	Disease	p.Arg571Ser	150330.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A	OMIM	No Domain	N/A	NULL
4000	125962	Disease	p.Arg482Gln	150330.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	83	pfam00932	27436946,NP_733821
4000	27436948	Disease	p.Arg482Gln	150330.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	83	pfam00932	NULL
4000	5031875	Disease	p.Arg482Gln	150330.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	83	pfam00932	NULL
4000	125962	Disease	p.Arg482Trp	150330.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	83	pfam00932	27436946,NP_733821
4000	27436948	Disease	p.Arg482Trp	150330.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	83	pfam00932	NULL
4000	5031875	Disease	p.Arg482Trp	150330.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	83	pfam00932	NULL
4000	125962	Disease	p.Arg482Leu	150330.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	83	pfam00932	27436946,NP_733821
4000	27436948	Disease	p.Arg482Leu	150330.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	83	pfam00932	NULL
4000	5031875	Disease	p.Arg482Leu	150330.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	83	pfam00932	NULL
4000	125962	Disease	p.His222Tyr	150330.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	EMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE	OMIM	204	pfam00038	27436946,NP_733821
4000	27436948	Disease	p.His222Tyr	150330.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	EMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE	OMIM	204	pfam00038	NULL
4000	5031875	Disease	p.His222Tyr	150330.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	EMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE	OMIM	204	pfam00038	NULL
4000	125962	Disease	p.Gly465Asp	150330.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	60	pfam00932	27436946,NP_733821
4000	27436948	Disease	p.Gly465Asp	150330.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	60	pfam00932	NULL
4000	5031875	Disease	p.Gly465Asp	150330.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	60	pfam00932	NULL
4000	125962	Disease	p.Arg582His	150330.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	No Domain	N/A	27436946,NP_733821
4000	27436948	Disease	p.Arg582His	150330.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	No Domain	N/A	NULL
4000	5031875	Disease	p.Arg582His	150330.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	No Domain	N/A	NULL
4000	125962	Disease	p.Arg377His	150330.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B||CARDIOMYOPATHY, DILATED, 1A	OMIM	374	pfam00038	27436946,NP_733821
4000	27436948	Disease	p.Arg377His	150330.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B||CARDIOMYOPATHY, DILATED, 1A	OMIM	374	pfam00038	NULL
4000	5031875	Disease	p.Arg377His	150330.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B||CARDIOMYOPATHY, DILATED, 1A	OMIM	374	pfam00038	NULL
4000	125962	Disease	p.Arg298Cys	150330.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1	OMIM	288	pfam00038	27436946,NP_733821
4000	27436948	Disease	p.Arg298Cys	150330.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1	OMIM	288	pfam00038	NULL
4000	5031875	Disease	p.Arg298Cys	150330.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1	OMIM	288	pfam00038	NULL
4000	125962	Disease	p.Arg527His	150330.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY||MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL	OMIM	140	pfam00932	27436946,NP_733821
4000	27436948	Disease	p.Arg527His	150330.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY||MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL	OMIM	140	pfam00932	NULL
4000	5031875	Disease	p.Arg527His	150330.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY||MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL	OMIM	140	pfam00932	NULL
4000	125962	Disease	p.Gly608Gly	150330.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	HUTCHINSON-GILFORD PROGERIA SYNDROME||RESTRICTIVE DERMOPATHY, LETHAL	OMIM	No Domain	N/A	27436946,NP_733821
4000	27436948	Disease	p.Gly608Gly	150330.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	HUTCHINSON-GILFORD PROGERIA SYNDROME||RESTRICTIVE DERMOPATHY, LETHAL	OMIM	No Domain	N/A	NULL
4000	5031875	Disease	p.Gly608Gly	150330.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	HUTCHINSON-GILFORD PROGERIA SYNDROME||RESTRICTIVE DERMOPATHY, LETHAL	OMIM	No Domain	N/A	NULL
4000	125962	Disease	p.Gly608Ser	150330.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	HUTCHINSON-GILFORD PROGERIA SYNDROME	OMIM	No Domain	N/A	27436946,NP_733821
4000	27436948	Disease	p.Gly608Ser	150330.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	HUTCHINSON-GILFORD PROGERIA SYNDROME	OMIM	No Domain	N/A	NULL
4000	5031875	Disease	p.Gly608Ser	150330.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	HUTCHINSON-GILFORD PROGERIA SYNDROME	OMIM	No Domain	N/A	NULL
4000	125962	Disease	p.Glu145Lys	150330.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL	OMIM	123	pfam00038	27436946,NP_733821
4000	27436948	Disease	p.Glu145Lys	150330.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL	OMIM	123	pfam00038	NULL
4000	5031875	Disease	p.Glu145Lys	150330.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL	OMIM	123	pfam00038	NULL
4000	125962	Disease	p.Arg471Cys	150330.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL	OMIM	67	pfam00932	27436946,NP_733821
4000	27436948	Disease	p.Arg471Cys	150330.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL	OMIM	67	pfam00932	NULL
4000	5031875	Disease	p.Arg471Cys	150330.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL	OMIM	67	pfam00932	NULL
4000	125962	Disease	p.Arg527Cys	150330.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY	OMIM	140	pfam00932	27436946,NP_733821
4000	27436948	Disease	p.Arg527Cys	150330.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY	OMIM	140	pfam00932	NULL
4000	5031875	Disease	p.Arg527Cys	150330.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY	OMIM	140	pfam00932	NULL
4000	125962	Disease	p.Arg133Leu	150330.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2||HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET	OMIM	111	pfam00038	27436946,NP_733821
4000	27436948	Disease	p.Arg133Leu	150330.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2||HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET	OMIM	111	pfam00038	NULL
4000	5031875	Disease	p.Arg133Leu	150330.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2||HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET	OMIM	111	pfam00038	NULL
4000	125962	Disease	p.Glu161Lys	150330.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A	OMIM	139	pfam00038	27436946,NP_733821
4000	27436948	Disease	p.Glu161Lys	150330.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A	OMIM	139	pfam00038	NULL
4000	5031875	Disease	p.Glu161Lys	150330.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A	OMIM	139	pfam00038	NULL
4000	125962	Disease	p.Ala57Pro	150330.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTRIPIC HYPOGONADISM	OMIM	28	pfam00038	27436946,NP_733821
4000	27436948	Disease	p.Ala57Pro	150330.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTRIPIC HYPOGONADISM	OMIM	28	pfam00038	NULL
4000	5031875	Disease	p.Ala57Pro	150330.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTRIPIC HYPOGONADISM	OMIM	28	pfam00038	NULL
4000	125962	Disease	p.Leu140Arg	150330.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET	OMIM	118	pfam00038	27436946,NP_733821
4000	27436948	Disease	p.Leu140Arg	150330.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET	OMIM	118	pfam00038	NULL
4000	5031875	Disease	p.Leu140Arg	150330.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET	OMIM	118	pfam00038	NULL
4000	125962	Disease	p.Arg133Pro	150330.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT	OMIM	111	pfam00038	27436946,NP_733821
4000	27436948	Disease	p.Arg133Pro	150330.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT	OMIM	111	pfam00038	NULL
4000	5031875	Disease	p.Arg133Pro	150330.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT	OMIM	111	pfam00038	NULL
4000	125962	Disease	p.Lys542Asn	150330.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY	OMIM	No Domain	N/A	27436946,NP_733821
4000	27436948	Disease	p.Lys542Asn	150330.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY	OMIM	No Domain	N/A	NULL
4000	5031875	Disease	p.Lys542Asn	150330.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY	OMIM	No Domain	N/A	NULL
4000	125962	Disease	p.Ser143Phe	150330.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED	OMIM	121	pfam00038	27436946,NP_733821
4000	27436948	Disease	p.Ser143Phe	150330.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED	OMIM	121	pfam00038	NULL
4000	5031875	Disease	p.Ser143Phe	150330.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED	OMIM	121	pfam00038	NULL
4000	125962	Disease	p.Ala529Val	150330.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY	OMIM	142	pfam00932	27436946,NP_733821
4000	27436948	Disease	p.Ala529Val	150330.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY	OMIM	142	pfam00932	NULL
4000	5031875	Disease	p.Ala529Val	150330.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY	OMIM	142	pfam00932	NULL
4000	125962	Disease	p.Val607Val	150330.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	HUTCHINSON-GILFORD PROGERIA SYNDROME	OMIM	No Domain	N/A	27436946,NP_733821
4000	27436948	Disease	p.Val607Val	150330.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	HUTCHINSON-GILFORD PROGERIA SYNDROME	OMIM	No Domain	N/A	NULL
4000	5031875	Disease	p.Val607Val	150330.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	HUTCHINSON-GILFORD PROGERIA SYNDROME	OMIM	No Domain	N/A	NULL
4000	125962	Disease	p.Ser573Leu	150330.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A||MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL||LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	No Domain	N/A	27436946,NP_733821
4000	27436948	Disease	p.Ser573Leu	150330.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A||MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL||LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	No Domain	N/A	NULL
4000	5031875	Disease	p.Ser573Leu	150330.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, 1A||MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL||LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	No Domain	N/A	NULL
4000	125962	Disease	p.Asp230Asn	150330.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	219	pfam00038	27436946,NP_733821
4000	27436948	Disease	p.Asp230Asn	150330.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	219	pfam00038	NULL
4000	5031875	Disease	p.Asp230Asn	150330.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	219	pfam00038	NULL
4000	125962	Disease	p.Arg399Cys	150330.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	No Domain	N/A	27436946,NP_733821
4000	27436948	Disease	p.Arg399Cys	150330.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	No Domain	N/A	NULL
4000	5031875	Disease	p.Arg399Cys	150330.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2	OMIM	No Domain	N/A	NULL
4000	125962	Disease	p.Val440Met	150330.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL	OMIM	9	pfam00932	27436946,NP_733821
4000	27436948	Disease	p.Val440Met	150330.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL	OMIM	9	pfam00932	NULL
4000	5031875	Disease	p.Val440Met	150330.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL	OMIM	9	pfam00932	NULL
4000	125962	Disease	p.Ala529Thr	150330.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY	OMIM	142	pfam00932	27436946,NP_733821
4000	27436948	Disease	p.Ala529Thr	150330.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY	OMIM	142	pfam00932	NULL
4000	5031875	Disease	p.Ala529Thr	150330.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY	OMIM	142	pfam00932	NULL
4000	125962	Disease	p.Leu380Ser	150330.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED	OMIM	377	pfam00038	27436946,NP_733821
4000	27436948	Disease	p.Leu380Ser	150330.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED	OMIM	377	pfam00038	NULL
4000	5031875	Disease	p.Leu380Ser	150330.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED	OMIM	377	pfam00038	NULL
4000	125962	Disease	p.Arg249Trp	150330.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED	OMIM	239	pfam00038	27436946,NP_733821
4000	27436948	Disease	p.Arg249Trp	150330.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED	OMIM	239	pfam00038	NULL
4000	5031875	Disease	p.Arg249Trp	150330.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED	OMIM	239	pfam00038	NULL
4000	125962	Disease	p.Glu358Lys	150330.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT||MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B	OMIM	355	pfam00038	27436946,NP_733821
4000	27436948	Disease	p.Glu358Lys	150330.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT||MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B	OMIM	355	pfam00038	NULL
4000	5031875	Disease	p.Glu358Lys	150330.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT||MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B	OMIM	355	pfam00038	NULL
4000	125962	Disease	p.Arg644Cys	150330.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	27436946,NP_733821
4000	27436948	Disease	p.Arg644Cys	150330.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	NULL
4000	5031875	Disease	p.Arg644Cys	150330.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	NULL
4000	125962	Disease	p.Leu59Arg	150330.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTRIPIC HYPOGONADISM	OMIM	30	pfam00038	27436946,NP_733821
4000	27436948	Disease	p.Leu59Arg	150330.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTRIPIC HYPOGONADISM	OMIM	30	pfam00038	NULL
4000	5031875	Disease	p.Leu59Arg	150330.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330	CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTRIPIC HYPOGONADISM	OMIM	30	pfam00038	NULL
3915	224471885	Disease	p.Arg246Trp	150325.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150325	PIERSON SYNDROME	OMIM	280	smart00136	145309326,NP_002284
3915	224471885	Disease	p.Arg246Trp	150325.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150325	PIERSON SYNDROME	OMIM	217	pfam00055	145309326,NP_002284
3915	224471885	Disease	p.Arg246Gln	150325.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150325	NEPHROTIC SYNDROME, CONGENITAL, WITH OR WITHOUT OCULAR ABNORMALITIES	OMIM	280	smart00136	145309326,NP_002284
3915	224471885	Disease	p.Arg246Gln	150325.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150325	NEPHROTIC SYNDROME, CONGENITAL, WITH OR WITHOUT OCULAR ABNORMALITIES	OMIM	217	pfam00055	145309326,NP_002284
3915	224471885	Disease	p.Asn1380Lys	150325.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150325	NEPHROTIC SYNDROME, CONGENITAL, WITH OR WITHOUT OCULAR ABNORMALITIES	OMIM	No Domain	N/A	145309326,NP_002284
3915	224471885	Disease	p.Cys321Arg	150325.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150325	NEPHROTIC SYNDROME, CONGENITAL, WITH OR WITHOUT OCULAR ABNORMALITIES	OMIM	53	pfam00053	145309326,NP_002284
3915	224471885	Disease	p.Cys321Arg	150325.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150325	NEPHROTIC SYNDROME, CONGENITAL, WITH OR WITHOUT OCULAR ABNORMALITIES	OMIM	84	smart00180	145309326,NP_002284
3915	224471885	Disease	p.Cys321Arg	150325.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150325	NEPHROTIC SYNDROME, CONGENITAL, WITH OR WITHOUT OCULAR ABNORMALITIES	OMIM	71	cd00055	145309326,NP_002284
3914	2497600	Disease	p.Glu210Lys	150310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150310	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	OMIM	213	pfam00055	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Glu210Lys	150310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150310	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	OMIM	276	smart00136	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Glu210Lys	150310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150310	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	OMIM	213	pfam00055	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Glu210Lys	150310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150310	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	OMIM	276	smart00136	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Glu210Lys	150310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150310	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	OMIM	213	pfam00055	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Glu210Lys	150310.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150310	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	OMIM	276	smart00136	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Gly199Ala	150310.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150310	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, SOMATIC MOSAIC REVERTANT	OMIM	197	pfam00055	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Gly199Ala	150310.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150310	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, SOMATIC MOSAIC REVERTANT	OMIM	264	smart00136	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Gly199Ala	150310.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150310	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, SOMATIC MOSAIC REVERTANT	OMIM	197	pfam00055	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Gly199Ala	150310.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150310	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, SOMATIC MOSAIC REVERTANT	OMIM	264	smart00136	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Gly199Ala	150310.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150310	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, SOMATIC MOSAIC REVERTANT	OMIM	197	pfam00055	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Gly199Ala	150310.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150310	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, SOMATIC MOSAIC REVERTANT	OMIM	264	smart00136	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Lys207Gln	150310.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150310	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, SOMATIC MOSAIC REVERTANT	OMIM	210	pfam00055	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Lys207Gln	150310.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150310	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, SOMATIC MOSAIC REVERTANT	OMIM	273	smart00136	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Lys207Gln	150310.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150310	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, SOMATIC MOSAIC REVERTANT	OMIM	210	pfam00055	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Lys207Gln	150310.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150310	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, SOMATIC MOSAIC REVERTANT	OMIM	273	smart00136	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Lys207Gln	150310.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150310	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, SOMATIC MOSAIC REVERTANT	OMIM	210	pfam00055	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Lys207Gln	150310.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150310	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, SOMATIC MOSAIC REVERTANT	OMIM	273	smart00136	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	194	COG0039	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	170	cd05291	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	184	cd01337	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	158	cd05294	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	158	cd05292	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	10	pfam02866	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	170	cd00704	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	165	cd00300	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	196	cd00650	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	171	cd01339	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	162	cd05290	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	157	cd05293	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	194	COG0039	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	170	cd05291	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	184	cd01337	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	158	cd05294	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	158	cd05292	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	10	pfam02866	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	170	cd00704	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	165	cd00300	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	196	cd00650	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	171	cd01339	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	162	cd05290	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Arg173His	150100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	157	cd05293	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	143	COG0039	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	129	pfam00056	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	128	cd05291	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	132	cd01337	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	116	cd05294	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	113	cd05292	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	126	cd00704	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	123	cd00300	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	149	cd00650	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	129	cd01339	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	120	cd05290	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	115	cd05293	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	143	COG0039	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	129	pfam00056	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	128	cd05291	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	132	cd01337	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	116	cd05294	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	113	cd05292	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	126	cd00704	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	123	cd00300	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	149	cd00650	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	129	cd01339	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	120	cd05290	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Ser131Arg	150100.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	115	cd05293	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Lys6Glu	150100.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	No Domain	N/A	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Lys6Glu	150100.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	No Domain	N/A	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	384	COG0039	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	322	cd05291	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	393	cd01337	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	310	cd05294	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	312	cd05292	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	220	pfam02866	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	346	cd00704	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	317	cd00300	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	451	cd00650	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	327	cd01339	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	311	cd05290	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	311	cd05293	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	384	COG0039	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	322	cd05291	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	393	cd01337	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	310	cd05294	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	312	cd05292	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	220	pfam02866	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	346	cd00704	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	317	cd00300	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	451	cd00650	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	327	cd01339	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	311	cd05290	4557032,NP_002291|291575128,NP_001167568
3945	126041	Disease	p.Trp323Arg	150100.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150100	LACTATE DEHYDROGENASE B DEFICIENCY	OMIM	311	cd05293	4557032,NP_002291|291575128,NP_001167568
3858	195972866	Disease	p.Arg10His	148080.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148080	EPIDERMOLYTIC HYPERKERATOSIS	OMIM	No Domain	N/A	NULL
3858	195972866	Disease	p.Leu15Ser	148080.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148080	EPIDERMOLYTIC HYPERKERATOSIS	OMIM	No Domain	N/A	NULL
3858	195972866	Disease	p.Arg156His	148080.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148080	EPIDERMOLYTIC HYPERKERATOSIS	OMIM	12	pfam00038	NULL
3858	195972866	Disease	p.Arg10Cys	148080.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148080	EPIDERMOLYTIC HYPERKERATOSIS	OMIM	No Domain	N/A	NULL
3858	195972866	Disease	p.Arg10Leu	148080.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148080	EPIDERMOLYTIC HYPERKERATOSIS	OMIM	No Domain	N/A	NULL
3858	195972866	Disease	p.Asn8His	148080.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148080	EPIDERMOLYTIC HYPERKERATOSIS	OMIM	No Domain	N/A	NULL
3858	195972866	Disease	p.Tyr14Asp	148080.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148080	EPIDERMOLYTIC HYPERKERATOSIS	OMIM	No Domain	N/A	NULL
3858	195972866	Disease	p.Leu103Gln	148080.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148080	EPIDERMOLYTIC HYPERKERATOSIS	OMIM	No Domain	N/A	NULL
3858	195972866	Disease	p.Arg156Cys	148080.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148080	EPIDERMOLYTIC HYPERKERATOSIS	OMIM	12	pfam00038	NULL
3858	195972866	Disease	p.Met150Arg	148080.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148080	EPIDERMOLYTIC HYPERKERATOSIS	OMIM	6	pfam00038	NULL
3858	195972866	Disease	p.Lys439Glu	148080.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148080	EPIDERMOLYTIC HYPERKERATOSIS	OMIM	363	pfam00038	NULL
3858	195972866	Disease	p.Met150Thr	148080.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148080	EPIDERMOLYTIC HYPERKERATOSIS	OMIM	6	pfam00038	NULL
3858	195972866	Disease	p.Arg83Glu	148080.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148080	ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS	OMIM	No Domain	N/A	NULL
3875	125083	Disease	p.His127Leu	148070.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148070	CIRRHOSIS, CRYPTOGENIC||CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO	OMIM	57	pfam00038	4557888,NP_000215|40354195,NP_954657
3875	125083	Disease	p.His127Leu	148070.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148070	CIRRHOSIS, CRYPTOGENIC||CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO	OMIM	57	pfam00038	4557888,NP_000215|40354195,NP_954657
3872	547751	Disease	p.Asn92Asp	148069.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148069	PACHYONYCHIA CONGENITA, TYPE 2	OMIM	10	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Asn92Ser	148069.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148069	PACHYONYCHIA CONGENITA, TYPE 2	OMIM	10	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Tyr98Asp	148069.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148069	PACHYONYCHIA CONGENITA, TYPE 2	OMIM	16	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Asn92His	148069.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148069	STEATOCYSTOMA MULTIPLEX	OMIM	10	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Arg94His	148069.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148069	STEATOCYSTOMA MULTIPLEX||PACHYONYCHIA CONGENITA, TYPE 2	OMIM	12	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Arg94Cys	148069.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148069	STEATOCYSTOMA MULTIPLEX||PACHYONYCHIA CONGENITA, TYPE 2	OMIM	12	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Met88Thr	148069.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148069	PACHYONYCHIA CONGENITA, TYPE 2	OMIM	6	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Arg94Pro	148069.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148069	PACHYONYCHIA CONGENITA, TYPE 2	OMIM	12	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Leu95Gln	148069.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148069	PACHYONYCHIA CONGENITA, TYPE 2	OMIM	13	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Leu95Pro	148069.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148069	PACHYONYCHIA CONGENITA, TYPE 2	OMIM	13	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Leu99Pro	148069.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148069	PACHYONYCHIA CONGENITA, TYPE 2	OMIM	17	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Val102Met	148069.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148069	PACHYONYCHIA CONGENITA, TYPE 2	OMIM	20	pfam00038	4557701,NP_000413
3868	23503075	Disease	p.Leu132Pro	148067.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148067	PACHYONYCHIA CONGENITA, TYPE 1	OMIM	17	pfam00038	24430192,NP_005548
3868	23503075	Disease	p.Arg127Cys	148067.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148067	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL	OMIM	12	pfam00038	24430192,NP_005548
3868	23503075	Disease	p.Asn125Ser	148067.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148067	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL	OMIM	10	pfam00038	24430192,NP_005548
3868	23503075	Disease	p.Arg127Pro	148067.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148067	PACHYONYCHIA CONGENITA, TYPE 1	OMIM	12	pfam00038	24430192,NP_005548
3868	23503075	Disease	p.Gln122Pro	148067.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148067	PACHYONYCHIA CONGENITA, TYPE 1	OMIM	7	pfam00038	24430192,NP_005548
3868	23503075	Disease	p.Leu124Arg	148067.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148067	PACHYONYCHIA CONGENITA, TYPE 1	OMIM	9	pfam00038	24430192,NP_005548
3868	23503075	Disease	p.Lys354Asn	148067.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148067	PACHYONYCHIA CONGENITA TARDA, TYPE 1	OMIM	310	pfam00038	24430192,NP_005548
3868	23503075	Disease	p.Met121Thr	148067.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148067	PACHYONYCHIA CONGENITA, TYPE 1	OMIM	6	pfam00038	24430192,NP_005548
3868	23503075	Disease	p.Leu128Gln	148067.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148067	PACHYONYCHIA CONGENITA, TYPE 1	OMIM	13	pfam00038	24430192,NP_005548
3861	15431310	Disease	p.Leu384Pro	148066.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148066	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED	OMIM	342	pfam00038	NULL
3861	15431310	Disease	p.Arg125Cys	148066.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148066	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE	OMIM	12	pfam00038	NULL
3861	15431310	Disease	p.Arg125His	148066.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148066	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE	OMIM	12	pfam00038	NULL
3861	15431310	Disease	p.Glu144Ala	148066.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148066	EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE	OMIM	31	pfam00038	NULL
3861	15431310	Disease	p.Met272Arg	148066.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148066	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED	OMIM	218	pfam00038	NULL
3861	15431310	Disease	p.Met119Thr	148066.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148066	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE	OMIM	6	pfam00038	NULL
3861	15431310	Disease	p.Met119Ile	148066.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148066	EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED||EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE	OMIM	6	pfam00038	NULL
3861	15431310	Disease	p.Tyr415His	148066.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148066	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE	OMIM	373	pfam00038	NULL
3861	15431310	Disease	p.Leu419Gln	148066.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148066	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE	OMIM	377	pfam00038	NULL
3861	15431310	Disease	p.Glu422Lys	148066.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148066	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE	OMIM	381	pfam00038	NULL
3861	15431310	Disease	p.Asn123Ser	148066.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148066	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE	OMIM	10	pfam00038	NULL
3860	131412228	Disease	p.Leu15Pro	148065.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148065	WHITE SPONGE NEVUS	OMIM	No Domain	N/A	NULL
3860	131412225	Disease	p.Leu15Pro	148065.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148065	WHITE SPONGE NEVUS	OMIM	No Domain	N/A	NULL
3856	90110027	Disease	p.Gly61Cys	148060.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148060	CIRRHOSIS, CRYPTOGENIC||CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	4504919,NP_002264
3856	90110027	Disease	p.Tyr53His	148060.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148060	CIRRHOSIS, CRYPTOGENIC	OMIM	No Domain	N/A	4504919,NP_002264
3850	109148552	Disease	p.Glu509Lys	148043.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148043	MEESMANN CORNEAL DYSTROPHY	OMIM	381	pfam00038	NULL
3854	238054404	Disease	p.Glu472Lys	148042.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148042	PACHYONYCHIA CONGENITA, TYPE 2	OMIM	381	pfam00038	119703753,NP_005546
3853	1346344	Disease	p.Phe174Val	148041.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148041	PACHYONYCHIA CONGENITA, TYPE 1	OMIM	13	pfam00038	5031839,NP_005545
3853	1346344	Disease	p.Glu472Lys	148041.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148041	PACHYONYCHIA CONGENITA, TYPE 1	OMIM	381	pfam00038	5031839,NP_005545
3853	1346344	Disease	p.Leu469Arg	148041.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148041	PACHYONYCHIA CONGENITA, TYPE 1	OMIM	377	pfam00038	5031839,NP_005545
3852	143811411	Disease	p.Glu475Gly	148040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148040	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE	OMIM	378	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Leu462Pro	148040.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148040	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED	OMIM	365	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Ile161Ser	148040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148040	EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED	OMIM	No Domain	N/A	119395754,NP_000415
3852	143811411	Disease	p.Met327Thr	148040.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148040	EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED	OMIM	218	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Asn329Lys	148040.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148040	EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED	OMIM	220	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Lys173Asn	148040.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148040	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED	OMIM	7	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Asn193Lys	148040.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148040	EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED	OMIM	27	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Leu174Phe	148040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148040	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE	OMIM	8	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Pro25Leu	148040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148040	EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION	OMIM	No Domain	N/A	119395754,NP_000415
3852	143811411	Disease	p.Val7Ala	148040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148040	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED	OMIM	No Domain	N/A	119395754,NP_000415
3852	143811411	Disease	p.Ser181Pro	148040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148040	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE	OMIM	15	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Val186Leu	148040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148040	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED	OMIM	20	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Glu170Lys	148040.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148040	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, AUTOSOMAL RECESSIVE||EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED	OMIM	4	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Glu418Lys	148040.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148040	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, AUTOSOMAL RECESSIVE	OMIM	321	pfam00038	119395754,NP_000415
3816	269849612	Disease	p.Arg53His	147910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147910	KALLIKREIN, DECREASED URINARY ACTIVITY OF	OMIM	42	pfam00089	4504875,NP_002248
3816	269849612	Disease	p.Arg53His	147910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147910	KALLIKREIN, DECREASED URINARY ACTIVITY OF	OMIM	47	cd00190	4504875,NP_002248
3816	269849612	Disease	p.Arg53His	147910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147910	KALLIKREIN, DECREASED URINARY ACTIVITY OF	OMIM	53	smart00020	4504875,NP_002248
3570	124343	Disease	p.Asp358Ala	147880.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147880	INTERLEUKIN-6 SOLUBLE RECEPTOR, SERUM LEVEL OF	OMIM	No Domain	N/A	4504673,NP_000556
3570	31317249	Disease	p.Asp358Ala	147880.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147880	INTERLEUKIN-6 SOLUBLE RECEPTOR, SERUM LEVEL OF	OMIM	No Domain	N/A	NULL
3383	68067956	Disease	p.Lys29Met	147840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147840	MALARIA, CEREBRAL, SUSCEPTIBILITY TO	OMIM	26	pfam03921	167466198,NP_000192
3717	12643404	Disease	p.Lys539Leu	147796.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796	ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC	OMIM	2	cd05072	4826776,NP_004963
3717	12643404	Disease	p.Lys539Leu	147796.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796	ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC	OMIM	2	cd05069	4826776,NP_004963
3717	12643404	Disease	p.Lys539Leu	147796.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796	ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC	OMIM	2	cd05068	4826776,NP_004963
3717	12643404	Disease	p.Lys539Leu	147796.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796	ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC	OMIM	2	cd05082	4826776,NP_004963
3717	12643404	Disease	p.Lys539Leu	147796.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796	ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC	OMIM	2	cd05083	4826776,NP_004963
3717	12643404	Disease	p.Lys539Leu	147796.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796	ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC	OMIM	2	cd05073	4826776,NP_004963
3717	12643404	Disease	p.Lys539Leu	147796.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796	ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC	OMIM	2	cd05070	4826776,NP_004963
3717	12643404	Disease	p.Lys539Leu	147796.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796	ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC	OMIM	2	cd05067	4826776,NP_004963
3717	12643404	Disease	p.Lys539Leu	147796.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796	ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC	OMIM	2	cd05052	4826776,NP_004963
3717	12643404	Disease	p.Lys539Leu	147796.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796	ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC	OMIM	2	cd05071	4826776,NP_004963
3717	12643404	Disease	p.Lys539Leu	147796.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796	ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC	OMIM	2	cd05062	4826776,NP_004963
3717	12643404	Disease	p.Lys539Leu	147796.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796	ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC	OMIM	2	cd05061	4826776,NP_004963
3717	12643404	Disease	p.Lys539Leu	147796.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796	ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC	OMIM	3	cd05111	4826776,NP_004963
3717	12643404	Disease	p.Lys539Leu	147796.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796	ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC	OMIM	2	cd05056	4826776,NP_004963
3717	12643404	Disease	p.Lys539Leu	147796.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796	ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC	OMIM	3	cd05109	4826776,NP_004963
3717	12643404	Disease	p.Lys539Leu	147796.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796	ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC	OMIM	8	cd05079	4826776,NP_004963
3717	12643404	Disease	p.Lys539Leu	147796.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147796	ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC	OMIM	11	cd05057	4826776,NP_004963
3566	124335	Disease	p.Gln576Arg	147781.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147781	ATOPY, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	4557669,NP_000409
3566	56788411	Disease	p.Gln576Arg	147781.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147781	ATOPY, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
3566	124335	Disease	p.Ile50Val	147781.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147781	ASTHMA, ATOPIC||ACQUIRED IMMUNODEFICIENCY SYNDROME, SLOW PROGRESSION TO	OMIM	24	pfam09238	4557669,NP_000409
3566	56788411	Disease	p.Ile50Val	147781.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147781	ASTHMA, ATOPIC||ACQUIRED IMMUNODEFICIENCY SYNDROME, SLOW PROGRESSION TO	OMIM	24	pfam09238	NULL
3566	124335	Disease	p.Ser503Pro	147781.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147781	ATOPY, RESISTANCE TO||ASTHMA, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	4557669,NP_000409
3566	56788411	Disease	p.Ser503Pro	147781.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147781	ATOPY, RESISTANCE TO||ASTHMA, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
3596	26787978	Disease	p.Arg130Gln	147683.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147683	ASTHMA, SUSCEPTIBILITY TO||ALLERGIC RHINITIS, SUSCEPTIBILITY TO	OMIM	152	smart00190	NULL
3643	308153655	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	15	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	5	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	12	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	8	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	13	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	2	cd06654	119395736,NP_000199
3643	119395738	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	25	cd05106	NULL
3643	119395738	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	12	cd06647	NULL
3643	119395738	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	10	cd06656	NULL
3643	119395738	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	24	cd05105	NULL
3643	119395738	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	5	cd06634	NULL
3643	119395738	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	3	cd07851	NULL
3643	119395738	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	3	cd06638	NULL
3643	119395738	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	24	cd05055	NULL
3643	119395738	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	24	cd05107	NULL
3643	119395738	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	6	cd06648	NULL
3643	119395738	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	22	cd05104	NULL
3643	119395738	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	7	cd06657	NULL
3643	119395738	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	7	cd06635	NULL
3643	119395738	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	9	cd06658	NULL
3643	119395738	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	8	cd06659	NULL
3643	119395738	Disease	p.Gly996Val	147670.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	11	cd06654	NULL
3643	308153655	Disease	p.Lys460Glu	147670.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	156	pfam01030	119395736,NP_000199
3643	119395738	Disease	p.Lys460Glu	147670.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	156	pfam01030	NULL
3643	308153655	Disease	p.Arg735Ser	147670.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	No Domain	N/A	119395736,NP_000199
3643	119395738	Disease	p.Arg735Ser	147670.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	No Domain	N/A	NULL
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	116_G	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	123	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	118_G	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	111_G	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	95	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	98	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	125	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	137	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	113	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	121	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	133	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	142	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	109	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	129	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	100_G	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	101	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	102	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	100	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	108	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	106	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	128	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	107_G	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	116_G	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	103	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	110	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	114	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	110_G	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	148	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	229	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	217	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	113	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	134	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	140	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	104_G	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	101	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	100	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	94	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	110	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	105	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	96	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	104	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	118_G	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	95	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	105	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	105	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	119	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	117	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	307	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	102	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	102	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	96_G	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	98_G	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	96_G	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	96	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	96	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	96	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	95_G	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	117_G	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	113	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	124	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	104_G	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	121	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	103	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	142_G	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	121	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	106_G	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	106_G	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	105	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	152	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	106	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	109	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	108	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	117	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	470	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	113	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	155_G	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	102	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	119	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	138	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	117	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	103	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	125	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	115	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	112	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	122_G	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	155	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	100_G	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	112	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	143	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	101	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	109	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	104	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	112	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	161	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	101	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	102	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	103	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	103	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	101	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	109	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	240	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	215	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	102	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	103_G	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	115	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	105	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	122	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	138	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	102	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	105_G	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	105	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	180_G	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	102	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	121	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	114	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	109_G	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	107	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	101	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	142	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	107	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	107_G	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	131	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	103	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	102	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	102	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	114	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	103	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	100	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	102	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	103	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	106	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	100	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	106	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	127	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	222	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	134	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	109	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	109	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	150	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	118	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	119	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	118	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	164	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	106	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	105	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	102	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	128	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	104	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	105	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	109_G	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	136	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	102	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	102	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	103	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	102	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	103	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	103	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	105	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	100	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	102	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	109	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	120	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	113	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	134	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	122	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	115_G	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	112	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	116_G	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	129	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	200	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	102_G	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	110_G	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	105	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	141	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	101_G	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	115	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	180	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	228	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	178	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	107	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	123	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	113	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	127	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	125	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	180	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	384	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	253	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	101	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	427	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	107	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	108_G	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	161	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	133	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	156	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	141	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	131	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	186	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	127	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	120	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	107	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	106	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	108	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	107	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	106	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	106	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	122	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	123	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	124	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	118	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	127	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	94	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	330	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	167	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	112	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	102	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	100_G	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	95	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	98	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	97_G	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	614	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	96	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	368	smart00220	119395736,NP_000199
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	127	cd06655	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	130	cd06618	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	234	cd05106	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	113	cd06615	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	118	cd08229	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	118	cd08228	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	135	cd06609	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	134	cd07833	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	124	cd06610	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	113	cd07846	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	126	cd06622	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	130	cd07837	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	147	cd06623	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	129	cd06605	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	131	cd05089	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	168	cd05573	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	122	cd07862	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	165	cd05580	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	121	cd05079	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	122	cd06621	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	155	cd06608	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	113	cd05612	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	116	cd06617	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	482	COG0515	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	118	cd07847	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	113	cd05609	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	122	cd07849	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	117	cd05148	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	130	cd07864	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	148	cd05056	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	114	cd05071	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	121	cd05109	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	132	cd05061	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	131	cd05062	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	130	cd05036	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	176	cd05032	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	121	cd07858	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	140	cd07855	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	116	cd05052	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	118	cd05039	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	114	cd05069	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	114	cd05067	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	115	cd05073	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	114	cd05070	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	115	cd05034	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	115	cd05072	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	117	cd05068	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	112	cd05083	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	114	cd05082	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	127	cd06647	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	127	cd06656	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	252	cd05105	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	116	cd07844	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	115	cd06613	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	113	cd06642	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	173	cd05057	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	115	cd07870	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	113	cd06641	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	113	cd06640	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	123	cd06637	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	126	cd06616	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	161	cd07840	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	228	cd05581	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	114	cd05601	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	118	cd08529	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	113	cd07831	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	114	cd06626	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	138	cd07838	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	115_G	cd06643	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	117	cd06620	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	118	cd06645	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	120	cd05063	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	119	cd05064	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	118	cd05065	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	132	cd05093	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	134	cd05092	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	135	cd05094	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	136	cd05090	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	136	cd05091	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	139	cd05048	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	173	cd05051	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	145	cd05050	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	168	cd05096	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	153	cd05095	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	143	cd05097	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	198	cd05046	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	139	cd05049	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	118	cd06646	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	127	cd06634	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	136	cd05088	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	122_G	cd06644	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	121	cd05108	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	146	cd05099	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	121	cd05110	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	162	cd05053	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	115	cd08216	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	113	cd05578	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	121	cd05118	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	152	cd07829	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	164	cd07830	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	122	cd06917	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	117	cd06611	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	118	cd06653	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	119	cd08224	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	142	cd06652	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	127	cd06612	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	162	cd06614	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	118	cd06625	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	146	cd07851	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	136	cd06638	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	135	cd05035	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	125	cd05074	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	139	cd05075	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	192	pfam00069	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	396	smart00219	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	266	pfam07714	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	473	smart00221	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	138	cd07835	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	119	cd05080	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	113	cd05589	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	380	smart00220	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	138	cd07854	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	110	cd05582	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	251	cd05055	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	254	cd05107	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	128	cd06648	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	236	cd05104	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	128	cd06657	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	137	cd06635	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	130	cd06658	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	107	cd05115	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	122	cd06629	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	129	cd06659	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	129	cd07841	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	139	cd05045	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	114	cd05631	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	112	cd08219	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	122_G	cd08220	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	120	cd06628	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	119	cd08222	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	113	cd08225	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	118	cd05587	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	127	cd07832	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	115_G	cd08221	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	116	cd07853	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	114	cd05632	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	117	cd08217	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	134	cd08528	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	150	cd08215	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	111	cd07839	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	123	cd07863	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	115	cd07836	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	112	cd07860	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	114	cd07861	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	118	cd06651	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	145	cd05122	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	114	cd08223	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	155	cd07834	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	113	cd08218	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	118	cd08530	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	114	cd05605	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	114	cd05630	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	121	cd07857	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	119	cd06627	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	192	cd06606	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	128	cd06654	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	133	cd07845	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	145	cd05033	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	154	cd05043	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	121	cd05111	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	143	cd07866	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	120	cd05081	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	118	cd05066	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	140	cd05038	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	113	cd05113	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	112	cd05114	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	114	cd05059	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	112	cd05112	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	149	cd05101	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	152	cd05098	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	121	cd07852	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	192	cd05103	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	240	cd05054	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	190	cd05102	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	127	cd06607	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	107	cd05571	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	117	cd05058	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	108	cd05619	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	108	cd05592	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	107	cd05593	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	114	cd05060	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	107	cd05116	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	115	cd05042	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	112	cd05086	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	106	cd05084	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	122	cd05044	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	117	cd05087	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	108	cd05041	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	116	cd05040	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	108	cd05591	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	108	cd05590	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	115	cd06630	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	110	cd05570	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	131	cd06632	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	117	cd05077	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	131	cd05037	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	129	cd05076	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	319	cd00192	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	114	cd05078	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	109	cd05608	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	627	cd05123	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	107	cd05607	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	110	cd05606	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	108	cd05579	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	106	cd05085	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	124	cd05047	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	116	cd06631	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	342	cd00180	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	112	cd05577	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	179	cd05572	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	146	cd05100	NULL
3643	119395738	Disease	p.Ala1134Thr	147670.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE	OMIM	125	cd06624	NULL
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	180	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	182	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	177	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	162	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	162	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	194	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	203	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	187	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	209	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	211	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	212	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	165	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	166	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	165	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	173	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	199	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	172	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	181	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	170	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	172_G	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	193	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	172	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	206	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	305	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	308	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	178_G	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	200	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	206	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	173	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	170	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	166	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	160	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	183	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	171	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	162	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	177	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	186	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	160	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	173	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	173_G	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	189	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185_G	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	395	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	170	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	169	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	162	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	152	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	160	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	160	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	160	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	176_G	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	159	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	181	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	174	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	187	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	162_G	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	183	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	208	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	190	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	170	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	170	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	165	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	227_G	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	170	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	176	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175_G	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	178	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	801	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	174	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	293	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	169_G	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	182	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	218	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185_G	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	166_G	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	215_G	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	178	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	179	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	183_G	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	242_G	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	171_G	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	179_G	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	204	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	176_G	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	169_G	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	168_G	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	179_G	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	229	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	166	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	166	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167_G	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	166	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	306	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	290	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	165	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	165	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	237_G	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	187	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	234_G	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	165	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	173_G	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	177	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	276	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	165	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	183	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	180	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	170	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	166	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	254_G	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	180	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	169	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	205_G	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	165	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	153	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	174	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	164	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	166	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	169	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	169	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	164	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	170	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	193	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	288	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	200	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	216	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	184	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	188	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	230	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	170	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	187	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	191_G	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	169	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	170	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	203	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	168	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	178	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	168	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	173	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	161	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	163	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	186	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	180	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	197	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	189	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	179	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	179	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	181	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	209	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	397	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	165	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	172_G	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	173_G	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	216	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	195	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	246	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	295	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	244	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	191	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	189	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	179	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	193	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	191	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	293_G	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	551	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	346	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	165	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	767	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	174	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	170_G	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	236	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	199	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	233	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	207	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	197	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	251	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	198	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	186	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	170	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	170	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	173	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	188	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	196	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	190	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	190	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	193	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	159	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	624	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	227	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	170	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	165_G	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	159_G	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	160	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	161	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	721	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	258	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	704	smart00220	119395736,NP_000199
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	191	cd06655	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	194	cd06618	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	300	cd05106	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	176	cd06615	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	182	cd08229	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	182	cd08228	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	205	cd06609	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	236	cd07833	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	200	cd06610	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	179	cd07846	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	190	cd06622	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	195	cd07837	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	235	cd06623	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	200	cd06605	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	194	cd05089	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	321	cd05573	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	186	cd07862	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	239	cd05580	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	188	cd05079	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185	cd06621	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	229	cd06608	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	174	cd05612	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	184	cd06617	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	868	COG0515	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	184	cd07847	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	193	cd05609	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	201	cd07849	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	182	cd05148	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	197	cd07864	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	215	cd05056	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	179	cd05071	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	187	cd05109	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	198	cd05061	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	197	cd05062	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	200	cd05036	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	242	cd05032	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	190	cd07858	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	214_G	cd07855	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	181	cd05052	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	182	cd05039	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	179	cd05069	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	179	cd05067	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	180	cd05073	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	179	cd05070	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	190	cd05034	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	180	cd05072	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185	cd05068	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	173	cd05083	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175	cd05082	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	191	cd06647	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	191	cd06656	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	318	cd05105	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	181	cd07844	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185	cd06613	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	177	cd06642	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	241	cd05057	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	179	cd07870	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	177	cd06641	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	177	cd06640	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	192	cd06637	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	186_G	cd06616	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	276	cd07840	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	413	cd05581	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	182	cd05601	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	182	cd08529	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	183	cd07831	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	211	cd06626	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	225	cd07838	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	184	cd06643	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	182	cd06620	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185	cd06645	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	187	cd05063	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185	cd05064	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	187	cd05065	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	198	cd05093	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	200	cd05092	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	208	cd05094	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	202	cd05090	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	202	cd05091	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	205	cd05048	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	248	cd05051	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	211	cd05050	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	245	cd05096	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	219	cd05095	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	209	cd05097	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	263	cd05046	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	210	cd05049	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185	cd06646	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	190	cd06634	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	199	cd05088	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	191	cd06644	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	187	cd05108	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	212	cd05099	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	187	cd05110	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	228	cd05053	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	189_G	cd08216	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	182	cd05578	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	189	cd05118	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	231	cd07829	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	252	cd07830	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	189	cd06917	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	186	cd06611	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185	cd06653	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	183	cd08224	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	209	cd06652	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	196	cd06612	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	230	cd06614	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185	cd06625	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	210	cd07851	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	205	cd06638	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	201	cd05035	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	191	cd05074	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	205	cd05075	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	328	pfam00069	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	565	smart00219	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	361	pfam07714	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	828	smart00221	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	204	cd07835	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	186	cd05080	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	177	cd05589	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	753	smart00220	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	207	cd07854	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	174	cd05582	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	317	cd05055	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	320	cd05107	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	192	cd06648	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	302	cd05104	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	192	cd06657	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	200	cd06635	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	194	cd06658	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	174	cd05115	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	184	cd06629	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	193	cd06659	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	198	cd07841	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	205	cd05045	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	177	cd05631	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	176	cd08219	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	186	cd08220	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	192	cd06628	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	182	cd08222	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	178	cd08225	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	182	cd05587	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	199_G	cd07832	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	180	cd08221	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	181	cd07853	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	177	cd05632	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	247	cd08217	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	199	cd08528	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	244	cd08215	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	176	cd07839	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	186	cd07863	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	180	cd07836	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	177	cd07860	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	178	cd07861	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185	cd06651	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	216	cd05122	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	178	cd08223	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	265	cd07834	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	177	cd08218	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	184	cd08530	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	177	cd05605	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	177	cd05630	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	194	cd07857	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	219	cd06627	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	292	cd06606	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	192	cd06654	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	200	cd07845	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	221	cd05033	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	223	cd05043	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	187	cd05111	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	226	cd07866	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	187	cd05081	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185	cd05066	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	214	cd05038	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	178	cd05113	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	177	cd05114	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	179	cd05059	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	177	cd05112	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	215	cd05101	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	218	cd05098	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	205	cd07852	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	258	cd05103	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	307	cd05054	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	256	cd05102	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	190	cd06607	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	172	cd05571	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185	cd05058	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	172	cd05619	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	188	cd05592	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	171	cd05593	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	181	cd05060	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	174	cd05116	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	189	cd05042	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	181	cd05086	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	172	cd05084	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	195	cd05044	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	182	cd05087	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	174	cd05041	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	189	cd05040	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	172	cd05591	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	172	cd05590	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185	cd06630	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	174	cd05570	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	198	cd06632	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185	cd05077	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	206	cd05037	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	198	cd05076	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	414	cd00192	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	183	cd05078	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	173	cd05608	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	745	cd05123	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	170	cd05607	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	172	cd05606	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	719	cd05579	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	171	cd05085	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	187	cd05047	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	186	cd06631	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	661	cd00180	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	176	cd05577	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	247	cd05572	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	212	cd05100	NULL
3643	119395738	Disease	p.Trp1200Ser	147670.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	190	cd06624	NULL
3643	308153655	Disease	p.Leu233Pro	147670.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	104	pfam00757	119395736,NP_000199
3643	308153655	Disease	p.Leu233Pro	147670.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	10	smart00261	119395736,NP_000199
3643	119395738	Disease	p.Leu233Pro	147670.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	104	pfam00757	NULL
3643	119395738	Disease	p.Leu233Pro	147670.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	10	smart00261	NULL
3643	308153655	Disease	p.Phe382Val	147670.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT	OMIM	43	pfam01030	119395736,NP_000199
3643	119395738	Disease	p.Phe382Val	147670.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT	OMIM	43	pfam01030	NULL
3643	308153655	Disease	p.Asn15Lys	147670.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	RABSON-MENDENHALL SYNDROME	OMIM	No Domain	N/A	119395736,NP_000199
3643	119395738	Disease	p.Asn15Lys	147670.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	RABSON-MENDENHALL SYNDROME	OMIM	No Domain	N/A	NULL
3643	308153655	Disease	p.His209Arg	147670.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	39	pfam00757	119395736,NP_000199
3643	119395738	Disease	p.His209Arg	147670.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	39	pfam00757	NULL
3643	308153655	Disease	p.Asn462Ser	147670.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	158	pfam01030	119395736,NP_000199
3643	119395738	Disease	p.Asn462Ser	147670.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	158	pfam01030	NULL
3643	308153655	Disease	p.Arg981Gln	147670.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	No Domain	N/A	119395736,NP_000199
3643	119395738	Disease	p.Arg981Gln	147670.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	5	cd05106	NULL
3643	119395738	Disease	p.Arg981Gln	147670.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	9	cd05105	NULL
3643	119395738	Disease	p.Arg981Gln	147670.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	12	cd05055	NULL
3643	119395738	Disease	p.Arg981Gln	147670.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	2	cd05107	NULL
3643	119395738	Disease	p.Arg981Gln	147670.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	5	cd05104	NULL
3643	308153655	Disease	p.Gly31Arg	147670.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	No Domain	N/A	119395736,NP_000199
3643	119395738	Disease	p.Gly31Arg	147670.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	No Domain	N/A	NULL
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	134	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	143	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	136	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	128	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	113	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	116	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	144	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	155	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	133	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	139	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	151	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	160	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	127	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	149	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	118	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	119	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	120	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	118	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	126	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	124	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	146	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	124	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	133	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	123	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	125	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	148	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	124	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	168	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	257	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	260	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	131	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	152	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	158	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	121	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	121	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	118	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	112	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	128	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	123	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	114	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	122	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	137	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	113	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	123	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	123	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	137	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	135	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	325	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	120	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	120	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	113	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	116	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	114	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	114	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	114	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	114	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	113	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	135	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	128	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	142	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	119	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	136	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	119	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	161	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	141	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	124	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	124	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	119	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	171	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	124	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	127	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	128	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	133	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	518	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	128	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	174	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	122	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	137	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	153	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	135	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	120	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	140	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	130	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	133	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	136	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	170	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	119	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	127	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	158	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	121	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	128	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	122	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	133	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	179	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	119	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	119	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	121	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	121	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	119	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	129	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	258	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	242	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	120	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	120	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	133	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	150	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	141	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	156	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	119	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	124	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	125	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	198	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	120	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	135	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	128	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	126	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	125	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	119	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	161	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	127	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	124	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	151	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	120	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	120	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	117	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	129	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	121	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	118	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	120	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	122	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	120	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	118	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	124	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	145	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	240	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	152	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	127	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	127	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	168	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	136	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	137	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	136	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	182	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	124	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	128	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	120	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	146	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	122	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	123	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	127	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	154	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	120	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	120	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	121	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	120	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	121	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	121	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	123	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	118	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	120	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	127	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	138	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	134	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	152	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	142	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	133	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	133	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	134	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	144	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	234	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	120	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	124	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	119	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	167	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	120	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	133	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	198	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	246	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	196	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	127	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	141	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	131	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	145	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	144	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	198	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	402	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	272	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	119	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	479	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	125	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	124	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	179	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	151	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	174	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	159	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	149	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	204	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	145	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	138	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	124	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	124	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	126	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	125	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	124	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	121	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	140	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	141	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	142	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	142	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	145	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	112	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	348	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	185	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	130	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	122	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	118	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	113	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	116	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	115	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	633	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	114	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	386	smart00220	119395736,NP_000199
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	145	cd06655	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	149	cd06618	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	252	cd05106	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	132	cd06615	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	136	cd08229	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	136	cd08228	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	153	cd06609	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	152	cd07833	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	142	cd06610	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	131	cd07846	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	145	cd06622	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	148	cd07837	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	178	cd06623	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	148	cd06605	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	149	cd05089	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	187	cd05573	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	140	cd07862	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	184	cd05580	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	139	cd05079	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	140	cd06621	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	173	cd06608	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	131	cd05612	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	135	cd06617	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	587	COG0515	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	136	cd07847	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	131	cd05609	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	140	cd07849	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	135	cd05148	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	148	cd07864	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	166	cd05056	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	132	cd05071	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	139	cd05109	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	150	cd05061	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	149	cd05062	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	148	cd05036	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	194	cd05032	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	139	cd07858	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	158	cd07855	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	134	cd05052	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	136	cd05039	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	132	cd05069	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	132	cd05067	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	133	cd05073	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	132	cd05070	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	133	cd05034	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	133	cd05072	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	135	cd05068	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	130	cd05083	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	132	cd05082	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	145	cd06647	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	145	cd06656	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	270	cd05105	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	134	cd07844	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	133	cd06613	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	131	cd06642	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	192	cd05057	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	133	cd07870	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	131	cd06641	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	131	cd06640	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	141	cd06637	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	145	cd06616	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	179	cd07840	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	246	cd05581	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	132	cd05601	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	136	cd08529	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	131	cd07831	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	132	cd06626	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	156	cd07838	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	133	cd06643	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	136	cd06620	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	136	cd06645	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	138	cd05063	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	137	cd05064	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	136	cd05065	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	150	cd05093	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	152	cd05092	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	153	cd05094	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	154	cd05090	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	154	cd05091	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	157	cd05048	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	191	cd05051	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	163	cd05050	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	186	cd05096	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	171	cd05095	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	161	cd05097	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	216	cd05046	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	157	cd05049	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	136	cd06646	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	145	cd06634	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	154	cd05088	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	140	cd06644	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	139	cd05108	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	164	cd05099	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	139	cd05110	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	180	cd05053	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	133	cd08216	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	131	cd05578	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	139	cd05118	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	170	cd07829	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	182	cd07830	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	140	cd06917	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	135	cd06611	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	136	cd06653	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	137	cd08224	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	160	cd06652	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	145	cd06612	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	182	cd06614	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	136	cd06625	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	164	cd07851	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	154	cd06638	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	153	cd05035	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	143	cd05074	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	157	cd05075	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	221	pfam00069	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	427	smart00219	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	286	pfam07714	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	542	smart00221	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	156	cd07835	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	137	cd05080	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	131	cd05589	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	432	smart00220	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	156	cd07854	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	128	cd05582	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	269	cd05055	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	272	cd05107	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	146	cd06648	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	254	cd05104	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	146	cd06657	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	155	cd06635	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	148	cd06658	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	125	cd05115	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	140	cd06629	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	147	cd06659	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	147	cd07841	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	157	cd05045	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	132	cd05631	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	130	cd08219	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	140	cd08220	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	138	cd06628	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	137	cd08222	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	131	cd08225	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	136	cd05587	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	145	cd07832	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	132	cd08221	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	134	cd07853	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	132	cd05632	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	175	cd08217	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	153	cd08528	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	173	cd08215	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	129	cd07839	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	141	cd07863	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	133	cd07836	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	130	cd07860	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	132	cd07861	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	136	cd06651	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	164	cd05122	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	132	cd08223	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	173	cd07834	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	131	cd08218	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	136	cd08530	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	132	cd05605	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	132	cd05630	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	139	cd07857	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	137	cd06627	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	211	cd06606	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	146	cd06654	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	151	cd07845	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	168	cd05033	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	172	cd05043	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	139	cd05111	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	161	cd07866	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	138	cd05081	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	136	cd05066	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	158	cd05038	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	131	cd05113	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	130	cd05114	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	132	cd05059	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	130	cd05112	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	167	cd05101	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	170	cd05098	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	139	cd07852	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	210	cd05103	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	258	cd05054	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	208	cd05102	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	145	cd06607	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	126	cd05571	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	135	cd05058	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	126	cd05619	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	141	cd05592	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	125	cd05593	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	132	cd05060	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	125	cd05116	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	133	cd05042	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	130	cd05086	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	124	cd05084	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	140	cd05044	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	135	cd05087	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	126	cd05041	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	134	cd05040	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	126	cd05591	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	126	cd05590	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	133	cd06630	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	128	cd05570	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	149	cd06632	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	135	cd05077	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	149	cd05037	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	147	cd05076	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	339	cd00192	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	132	cd05078	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	127	cd05608	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	646	cd05123	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	125	cd05607	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	128	cd05606	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	126	cd05579	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	124	cd05085	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	142	cd05047	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	134	cd06631	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	371	cd00180	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	130	cd05577	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	198	cd05572	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	164	cd05100	NULL
3643	119395738	Disease	p.Arg1152Gln	147670.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	143	cd06624	NULL
3643	308153655	Disease	p.Val28Ala	147670.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	No Domain	N/A	119395736,NP_000199
3643	119395738	Disease	p.Val28Ala	147670.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	No Domain	N/A	NULL
3643	308153655	Disease	p.Gly366Arg	147670.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	12	pfam01030	119395736,NP_000199
3643	119395738	Disease	p.Gly366Arg	147670.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	12	pfam01030	NULL
3643	308153655	Disease	p.Arg86Pro	147670.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	57	pfam01030	119395736,NP_000199
3643	119395738	Disease	p.Arg86Pro	147670.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	57	pfam01030	NULL
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	117	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	124	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	119	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	111_G	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	96	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	99	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	126	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	138	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	114	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	122	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	134	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	143	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	110	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	130	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	101	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	102	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	103	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	101	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	109	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	107	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	129	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	107_G	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	116_G	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	104	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	111	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	115	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	110_G	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	149	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	230	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	218	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	114	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	135	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	141	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	104_G	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	102	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	101	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	95	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	111	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	106	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	97	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	105	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	119	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	96	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	106	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	106	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	120	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	118	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	308	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	103	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	103	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	96_G	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	99	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	97	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	97	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	97	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	97	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	96	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	118	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	114	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	125	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	104_G	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	122	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	104	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	143	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	122	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	107	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	107	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	106	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	153	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	107	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	110	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	109	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	117_G	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	471	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	114	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	156	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	103	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	120	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	139	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	118	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	104	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	126	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	116	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	113	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	122_G	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	156	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	101	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	113	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	144	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	102	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	110	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	105	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	113	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	162	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	102	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	102_G	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	104	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	104	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	102	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	110	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	241	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	216	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	103	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	103_G	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	116	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	106	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	123	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	139	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	102_G	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	106	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	106	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	181	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	103	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	122	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	115	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	109_G	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	108	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	102	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	143	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	108	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	107_G	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	132	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	103_G	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	103	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	103	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	115	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	104	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	101	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	103	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	104	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	107	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	101	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	107	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	128	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	223	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	135	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	110	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	110	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	151	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	119	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	120	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	119	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	165	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	107	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	106	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	103	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	129	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	105	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	106	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	110	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	137	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	103	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	103	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	104	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	103	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	104	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	104	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	106	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	101	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	103	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	110	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	121	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	114	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	135	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	123	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	116	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	113	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	117	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	130	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	201	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	102_G	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	111	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	106	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	142	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	102	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	116	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	181	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	229	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	179	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	108	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	124	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	114	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	128	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	126	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	181	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	385	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	254	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	102	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	455	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	108	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	108_G	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	162	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	134	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	157	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	142	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	132	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	187	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	128	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	121	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	107_G	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	107	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	109	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	108	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	107	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	107	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	123	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	124	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	125	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	125	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	128	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	95	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	331	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	168	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	113	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	103	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	101	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	96	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	99	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	98	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	615	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	97	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	369	smart00220	119395736,NP_000199
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	128	cd06655	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	131	cd06618	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	235	cd05106	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	114	cd06615	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	119	cd08229	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	119	cd08228	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	136	cd06609	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	135	cd07833	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	125	cd06610	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	114	cd07846	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	127	cd06622	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	131	cd07837	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	148	cd06623	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	130	cd06605	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	132	cd05089	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	169	cd05573	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	123	cd07862	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	166	cd05580	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	122	cd05079	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	123	cd06621	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	156	cd06608	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	114	cd05612	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	117	cd06617	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	496	COG0515	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	119	cd07847	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	114	cd05609	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	123	cd07849	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	118	cd05148	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	131	cd07864	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	149	cd05056	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	115	cd05071	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	122	cd05109	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	133	cd05061	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	132	cd05062	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	131	cd05036	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	177	cd05032	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	122	cd07858	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	141	cd07855	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	117	cd05052	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	119	cd05039	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	115	cd05069	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	115	cd05067	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	116	cd05073	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	115	cd05070	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	116	cd05034	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	116	cd05072	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	118	cd05068	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	113	cd05083	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	115	cd05082	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	128	cd06647	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	128	cd06656	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	253	cd05105	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	117	cd07844	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	116	cd06613	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	114	cd06642	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	174	cd05057	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	116	cd07870	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	114	cd06641	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	114	cd06640	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	124	cd06637	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	127	cd06616	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	162	cd07840	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	229	cd05581	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	115	cd05601	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	119	cd08529	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	114	cd07831	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	115	cd06626	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	139	cd07838	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	116	cd06643	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	118	cd06620	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	119	cd06645	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	121	cd05063	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	120	cd05064	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	119	cd05065	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	133	cd05093	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	135	cd05092	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	136	cd05094	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	137	cd05090	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	137	cd05091	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	140	cd05048	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	174	cd05051	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd05050	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	169	cd05096	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	154	cd05095	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	144	cd05097	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	199	cd05046	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	140	cd05049	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	119	cd06646	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	128	cd06634	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	137	cd05088	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	123	cd06644	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	122	cd05108	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	147	cd05099	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	122	cd05110	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	163	cd05053	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	116	cd08216	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	114	cd05578	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	122	cd05118	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	153	cd07829	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	165	cd07830	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	123	cd06917	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	118	cd06611	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	119	cd06653	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	120	cd08224	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	143	cd06652	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	128	cd06612	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	163	cd06614	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	119	cd06625	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	147	cd07851	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	137	cd06638	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	136	cd05035	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	126	cd05074	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	140	cd05075	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	193	pfam00069	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	397	smart00219	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	267	pfam07714	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	474	smart00221	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	139	cd07835	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	120	cd05080	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	114	cd05589	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	381	smart00220	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	139	cd07854	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	111	cd05582	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	252	cd05055	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	255	cd05107	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	129	cd06648	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	237	cd05104	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	129	cd06657	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	138	cd06635	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	131	cd06658	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	108	cd05115	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	123	cd06629	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	130	cd06659	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	130	cd07841	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	140	cd05045	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	115	cd05631	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	113	cd08219	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	123	cd08220	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	121	cd06628	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	120	cd08222	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	114	cd08225	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	119	cd05587	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	128	cd07832	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	115_G	cd08221	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	117	cd07853	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	115	cd05632	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	118	cd08217	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	135	cd08528	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	151	cd08215	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	112	cd07839	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	124	cd07863	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	116	cd07836	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	113	cd07860	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	115	cd07861	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	119	cd06651	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd05122	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	115	cd08223	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	156	cd07834	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	114	cd08218	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	119	cd08530	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	115	cd05605	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	115	cd05630	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	122	cd07857	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	120	cd06627	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	193	cd06606	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	129	cd06654	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	134	cd07845	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd05033	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	155	cd05043	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	122	cd05111	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	144	cd07866	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	121	cd05081	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	119	cd05066	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	141	cd05038	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	114	cd05113	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	113	cd05114	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	115	cd05059	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	113	cd05112	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	150	cd05101	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	153	cd05098	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	122	cd07852	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	193	cd05103	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	241	cd05054	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	191	cd05102	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	128	cd06607	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	108	cd05571	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	118	cd05058	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	109	cd05619	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	109	cd05592	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	108	cd05593	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	115	cd05060	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	108	cd05116	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	116	cd05042	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	113	cd05086	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	107	cd05084	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	123	cd05044	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	118	cd05087	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	109	cd05041	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	117	cd05040	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	109	cd05591	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	109	cd05590	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	116	cd06630	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	111	cd05570	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	132	cd06632	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	118	cd05077	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	132	cd05037	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	130	cd05076	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	320	cd00192	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	115	cd05078	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	110	cd05608	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	628	cd05123	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	108	cd05607	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	111	cd05606	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	109	cd05579	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	107	cd05085	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	125	cd05047	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	117	cd06631	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	343	cd00180	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	113	cd05577	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	180	cd05572	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	147	cd05100	NULL
3643	119395738	Disease	p.Ala1135Glu	147670.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	126	cd06624	NULL
3643	308153655	Disease	p.Val985Met	147670.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	No Domain	N/A	119395736,NP_000199
3643	119395738	Disease	p.Val985Met	147670.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	14	cd05106	NULL
3643	119395738	Disease	p.Val985Met	147670.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	2	cd06647	NULL
3643	119395738	Disease	p.Val985Met	147670.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	2	cd06656	NULL
3643	119395738	Disease	p.Val985Met	147670.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	13	cd05105	NULL
3643	119395738	Disease	p.Val985Met	147670.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	16	cd05055	NULL
3643	119395738	Disease	p.Val985Met	147670.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	6	cd05107	NULL
3643	119395738	Disease	p.Val985Met	147670.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	9	cd05104	NULL
3643	119395738	Disease	p.Val985Met	147670.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	3	cd06654	NULL
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	156	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	165	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	158	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	150	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	135	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	138	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	177	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	155	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	161	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	178	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	149	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	171	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	140	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	141	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	142	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	140	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	148	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	172	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	155	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	145	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	147	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	170	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	192	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	279	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	282	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	154	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	174	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	180	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	144	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	143	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	140	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	134	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	157	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	145	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	136	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	148	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	159	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	136	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	145	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	164	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	360	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	150	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	142	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	135	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	138	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	136	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	136	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	136	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	151	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	135	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	157	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	150	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	164	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	141	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	159	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	141	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	183	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	164	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	141	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	194	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	149	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	150	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	156	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	660	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	150	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	197	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	145	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	159	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	189	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	159	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	142	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	152	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	155	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	159	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	216	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	141	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	149	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	190	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	143	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	151	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	144	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	155	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	202	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	141	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	141	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	143	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	143	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	141	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	151	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	280	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	264	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	142	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	142	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	160	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	211	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	163	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	200	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	141	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	149	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	150	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	230	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	142	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	157	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	151	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	148	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	142	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	186	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	149	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	142	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	142	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	139	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	151	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	143	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	140	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	142	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	144	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	142	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	140	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	262	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	174	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	149	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	149	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	190	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	158	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	159	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	161	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	204	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	150	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	142	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	168	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	144	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	145	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	149	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	176	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	142	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	142	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	143	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	142	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	147	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	143	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	145	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	140	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	142	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	149	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	160	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	156	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	174	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	164	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	155	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	155	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	156	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	256	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	142	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	147	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	190	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	143	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	155	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	220	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	268	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	218	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	149	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	163	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	153	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	251	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	453	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	315	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	141	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	601	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	147	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	205	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	173	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	207	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	181	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	171	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	226	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	172	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	160	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	148	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	147	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	143	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	162	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	163	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	164	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	164	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	134	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	440	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	208	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	152	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	144	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	140	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	135	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	138	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	137	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	656	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	136	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	508	smart00220	119395736,NP_000199
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd06655	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	172	cd06618	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	274	cd05106	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	154	cd06615	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	158	cd08229	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	158	cd08228	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	176	cd06609	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	179	cd07833	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	164	cd06610	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	159_G	cd07846	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	168	cd06622	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	169_G	cd07837	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	201	cd06623	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175	cd06605	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	168	cd05089	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	209	cd05573	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	161	cd07862	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	206	cd05580	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	160	cd05079	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	166	cd06621	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	195	cd06608	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	153	cd05612	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	155_G	cd06617	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	723	COG0515	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	158	cd07847	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	161	cd05609	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	162	cd07849	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	161	cd05148	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	169	cd07864	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	188	cd05056	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	154	cd05071	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	163	cd05109	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	172	cd05061	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	171	cd05062	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	174	cd05036	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	216	cd05032	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	161	cd07858	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	180	cd07855	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	156	cd05052	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	158	cd05039	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	154	cd05069	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	154	cd05067	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	155	cd05073	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	154	cd05070	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	166	cd05034	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	155	cd05072	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	159	cd05068	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	148_G	cd05083	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	154	cd05082	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	165_G	cd06647	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd06656	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	292	cd05105	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	157	cd07844	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	155	cd06613	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	153	cd06642	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	217	cd05057	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	157	cd07870	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	153	cd06641	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	153	cd06640	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	163	cd06637	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175_G	cd06616	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	202	cd07840	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	268	cd05581	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	155_G	cd05601	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	168	cd08529	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	159	cd07831	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	155	cd06626	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	178	cd07838	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	155	cd06643	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	158	cd06620	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	158	cd06645	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	163	cd05063	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	160	cd05064	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	158	cd05065	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	172	cd05093	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	174	cd05092	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175	cd05094	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	176	cd05090	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	176	cd05091	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	179	cd05048	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	217	cd05051	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185	cd05050	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	219	cd05096	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	193	cd05095	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	183	cd05097	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	238	cd05046	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	184	cd05049	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	158	cd06646	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd06634	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	173	cd05088	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	162	cd06644	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	163	cd05108	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	186	cd05099	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	163	cd05110	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	202	cd05053	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	155	cd08216	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	153	cd05578	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	161	cd05118	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	200_G	cd07829	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	228	cd07830	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	163	cd06917	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	157	cd06611	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	158	cd06653	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	159	cd08224	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	182	cd06652	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd06612	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	198_G	cd06614	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	157	cd06625	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	186	cd07851	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	176	cd06638	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175	cd05035	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	165	cd05074	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	179	cd05075	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	280	pfam00069	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	466	smart00219	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	327	pfam07714	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	636	smart00221	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	177_G	cd07835	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	159	cd05080	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	151	cd05589	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	550	smart00220	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	178	cd07854	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	150	cd05582	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	291	cd05055	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	294	cd05107	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	168	cd06648	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	276	cd05104	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	168	cd06657	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	177	cd06635	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	170	cd06658	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	147	cd05115	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	165	cd06629	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	169	cd06659	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	169	cd07841	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	179	cd05045	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	154	cd05631	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	152	cd08219	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	162	cd08220	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	160	cd06628	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	158	cd08222	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	154	cd08225	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	158	cd05587	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	172	cd07832	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	153	cd08221	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	155	cd07853	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	154	cd05632	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	223	cd08217	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	175	cd08528	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	212	cd08215	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	149_G	cd07839	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	162	cd07863	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	155	cd07836	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	152	cd07860	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	154	cd07861	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	156_G	cd06651	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	187	cd05122	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	153	cd08223	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	198	cd07834	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	153	cd08218	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	161	cd08530	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	154	cd05605	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	154	cd05630	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	161	cd07857	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	162	cd06627	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	242	cd06606	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	166_G	cd06654	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	173	cd07845	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	196	cd05033	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	197	cd05043	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	161	cd05111	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	183	cd07866	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	161	cd05081	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	161	cd05066	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	185	cd05038	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	153	cd05113	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	152	cd05114	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	154	cd05059	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	152	cd05112	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	189	cd05101	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	192	cd05098	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	161	cd07852	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	233	cd05103	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	281	cd05054	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	231	cd05102	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	167	cd06607	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd05571	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	157	cd05058	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	148	cd05619	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	163	cd05592	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	147	cd05593	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	155	cd05060	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	147	cd05116	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	155	cd05042	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	152	cd05086	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd05084	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	169	cd05044	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	157	cd05087	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd05041	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	160	cd05040	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	148	cd05591	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	148	cd05590	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	161	cd06630	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	147_G	cd05570	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	171	cd06632	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	160	cd05077	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	179	cd05037	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	172_G	cd05076	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	372	cd00192	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	162	cd05078	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	149	cd05608	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	668	cd05123	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	147	cd05607	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	150	cd05606	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	238	cd05579	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	146	cd05085	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	161	cd05047	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	156	cd06631	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	452	cd00180	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	152	cd05577	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	219_G	cd05572	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	186	cd05100	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	OMIM	166	cd06624	NULL
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	135	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	144	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	129	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	114	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	117	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	145	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	156	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	134	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	140	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	157	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	161	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	128	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	150	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	119	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	120	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	121	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	119	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	127	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	125	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	147	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	125	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	134	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	124	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	126	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	149	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	125	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	171	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	258	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	261	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	132	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	153	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	159	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	122	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	122	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	119	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	113	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	129	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	124	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	115	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	123	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	138	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	115	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	124	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	124	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	138	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	136	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	328	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	121	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	121	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	114	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	117	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	115	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	115	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	115	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	130	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	114	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	136	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	129	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	143	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	120	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	120	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	162	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	142	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	125	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	125	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	120	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	173	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	125	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	128	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	129	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	134	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	519	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	129	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	176	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	123	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	138	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	167	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	121	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	141	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	131	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	134	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	171	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	120	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	128	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	159	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	122	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	129	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	123	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	134	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	181	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	120	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	120	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	122	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	122	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	120	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	130	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	259	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	243	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	121	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	121	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	134	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	151	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	142	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	157	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	120	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	125	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	126	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	200	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	121	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	136	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	129	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	127	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	126	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	120	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	162	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	128	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	125	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	153	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	121	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	121	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	118	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	130	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	122	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	119	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	121	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	123	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	121	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	119	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	125	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	146	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	241	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	153	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	128	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	128	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	169	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	138	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	183	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	125	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	129	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	121	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	147	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	123	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	124	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	128	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	155	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	121	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	121	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	122	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	121	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	122	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	122	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	124	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	119	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	121	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	128	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	139	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	135	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	153	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	143	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	134	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	134	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	135	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	145	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	235	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	121	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	125	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	120	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	168	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	121	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	134	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	199	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	247	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	197	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	128	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	142	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	132	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	146	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	145	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	200	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	403	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	273	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	120	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	485	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	126	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	125	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	180	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	152	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	175	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	160	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	150	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	205	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	146	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	139	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	125	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	125	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	127	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	126	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	125	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	122	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	141	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	142	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	143	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	143	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	146	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	113	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	349	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	187	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	131	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	123	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	119	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	114	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	117	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	116	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	635	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	115	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	392	smart00220	119395736,NP_000199
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	146	cd06655	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	150	cd06618	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	253	cd05106	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	133	cd06615	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd08229	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd08228	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	154	cd06609	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	153	cd07833	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	143	cd06610	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	132	cd07846	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	146	cd06622	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	149	cd07837	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	179	cd06623	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	149	cd06605	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	150	cd05089	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	188	cd05573	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	141	cd07862	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	185	cd05580	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	140	cd05079	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	141	cd06621	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	174	cd06608	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	132	cd05612	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	136	cd06617	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	588	COG0515	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd07847	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	132	cd05609	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	141	cd07849	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	136	cd05148	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	149	cd07864	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	167	cd05056	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	133	cd05071	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	140	cd05109	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	151	cd05061	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	150	cd05062	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	149	cd05036	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	195	cd05032	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	140	cd07858	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	159	cd07855	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	135	cd05052	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd05039	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	133	cd05069	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	133	cd05067	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	134	cd05073	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	133	cd05070	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	134	cd05034	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	134	cd05072	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	136	cd05068	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	131	cd05083	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	133	cd05082	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	146	cd06647	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	146	cd06656	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	271	cd05105	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	135	cd07844	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	134	cd06613	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	132	cd06642	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	193	cd05057	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	134	cd07870	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	132	cd06641	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	132	cd06640	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	142	cd06637	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	146	cd06616	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	180	cd07840	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	247	cd05581	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	133	cd05601	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd08529	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	132	cd07831	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	133	cd06626	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	157	cd07838	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	134	cd06643	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd06620	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd06645	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	139	cd05063	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	138	cd05064	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd05065	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	151	cd05093	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	153	cd05092	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	154	cd05094	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	155	cd05090	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	155	cd05091	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	158	cd05048	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	192	cd05051	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	164	cd05050	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	187	cd05096	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	172	cd05095	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	162	cd05097	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	217	cd05046	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	158	cd05049	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd06646	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	146	cd06634	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	155	cd05088	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	141	cd06644	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	140	cd05108	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	165	cd05099	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	140	cd05110	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	181	cd05053	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	134	cd08216	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	132	cd05578	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	140	cd05118	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	171	cd07829	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	183	cd07830	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	141	cd06917	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	136	cd06611	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd06653	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	138	cd08224	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	161	cd06652	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	146	cd06612	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	183	cd06614	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd06625	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	165	cd07851	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	155	cd06638	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	154	cd05035	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	144	cd05074	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	158	cd05075	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	222	pfam00069	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	428	smart00219	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	287	pfam07714	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	543	smart00221	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	157	cd07835	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	138	cd05080	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	132	cd05589	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	433	smart00220	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	157	cd07854	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	129	cd05582	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	270	cd05055	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	273	cd05107	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	147	cd06648	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	255	cd05104	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	147	cd06657	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	156	cd06635	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	149	cd06658	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	126	cd05115	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	141	cd06629	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	148	cd06659	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	148	cd07841	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	158	cd05045	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	133	cd05631	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	131	cd08219	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	141	cd08220	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	139	cd06628	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	138	cd08222	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	132	cd08225	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd05587	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	146	cd07832	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	133	cd08221	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	135	cd07853	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	133	cd05632	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	176	cd08217	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	154	cd08528	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	174	cd08215	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	130	cd07839	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	142	cd07863	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	134	cd07836	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	131	cd07860	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	133	cd07861	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd06651	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	165	cd05122	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	133	cd08223	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	174	cd07834	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	132	cd08218	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd08530	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	133	cd05605	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	133	cd05630	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	140	cd07857	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	138	cd06627	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	212	cd06606	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	147	cd06654	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	152	cd07845	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	169	cd05033	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	173	cd05043	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	140	cd05111	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	162	cd07866	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	139	cd05081	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	137	cd05066	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	159	cd05038	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	132	cd05113	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	131	cd05114	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	133	cd05059	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	131	cd05112	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	168	cd05101	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	171	cd05098	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	140	cd07852	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	211	cd05103	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	259	cd05054	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	209	cd05102	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	146	cd06607	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	127	cd05571	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	136	cd05058	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	127	cd05619	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	142	cd05592	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	126	cd05593	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	133	cd05060	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	126	cd05116	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	134	cd05042	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	131	cd05086	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	125	cd05084	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	141	cd05044	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	136	cd05087	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	127	cd05041	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	135	cd05040	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	127	cd05591	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	127	cd05590	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	134	cd06630	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	129	cd05570	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	150	cd06632	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	136	cd05077	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	150	cd05037	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	148	cd05076	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	340	cd00192	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	133	cd05078	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	128	cd05608	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	647	cd05123	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	126	cd05607	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	129	cd05606	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	127	cd05579	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	125	cd05085	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	143	cd05047	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	135	cd06631	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	372	cd00180	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	131	cd05577	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	199	cd05572	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	165	cd05100	NULL
3643	119395738	Disease	p.Met1153Ile	147670.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	INSULIN RESISTANCE	OMIM	144	cd06624	NULL
3643	308153655	Disease	p.Trp412Ser	147670.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	77	pfam01030	119395736,NP_000199
3643	119395738	Disease	p.Trp412Ser	147670.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	77	pfam01030	NULL
3643	308153655	Disease	p.Ile119Met	147670.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	96	pfam01030	119395736,NP_000199
3643	119395738	Disease	p.Ile119Met	147670.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	96	pfam01030	NULL
3643	308153655	Disease	p.Asn431Asp	147670.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	101	pfam01030	119395736,NP_000199
3643	119395738	Disease	p.Asn431Asp	147670.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	DONOHUE SYNDROME	OMIM	101	pfam01030	NULL
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	156	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	165	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	158	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	150	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	135	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	138	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	167	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	177	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	155	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	161	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	178	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	185	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	149	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	171	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	140	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	141	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	142	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	140	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	148	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	146	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	172	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	146	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	155	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	145	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	147	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	170	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	146	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	192	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	279	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	282	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	154	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	174	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	180	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	144	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	143	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	140	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	134	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	157	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	145	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	136	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	148	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	159	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	136	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	145	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	146	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	167	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	164	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	360	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	150	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	142	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	135	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	138	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	136	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	136	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	136	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	151	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	135	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	157	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	150	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	164	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	141	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	159	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	141	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	183	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	164	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	146	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	146	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	141	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	194	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	146	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	149	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	150	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	156	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	660	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	150	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	197	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	145	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	159	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	189	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	159	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	142	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	167	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	152	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	155	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	159	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	216	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	141	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	149	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	190	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	143	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	151	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	144	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	155	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	202	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	141	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	141	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	143	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	143	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	141	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	151	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	280	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	264	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	142	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	142	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	160	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	211	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	163	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	200	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	141	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	149	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	150	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	230	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	142	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	157	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	151	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	148	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	146	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	142	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	186	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	149	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	146	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	175	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	142	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	142	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	139	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	151	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	143	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	140	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	142	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	144	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	142	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	140	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	146	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	167	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	262	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	174	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	149	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	149	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	190	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	158	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	159	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	161	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	204	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	146	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	150	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	142	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	168	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	144	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	145	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	149	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	176	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	142	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	142	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	143	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	142	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	147	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	143	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	145	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	140	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	142	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	149	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	160	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	156	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	174	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	164	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	155	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	155	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	156	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	167	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	256	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	142	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	146	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	147	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	190	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	143	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	155	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	220	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	268	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	218	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	149	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	163	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	153	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	167	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	167	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	251	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	453	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	315	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	141	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	601	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	147	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	146	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	205	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	173	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	207	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	181	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	171	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	226	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	172	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	160	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	146	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	146	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	148	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	147	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	146	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	143	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	162	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	163	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	164	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	164	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	167	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	134	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	440	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	208	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	152	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	144	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	140	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	135	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	138	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	137	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	656	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	136	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	508	smart00220	119395736,NP_000199
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	167	cd06655	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	172	cd06618	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	274	cd05106	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	154	cd06615	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	158	cd08229	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	158	cd08228	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	176	cd06609	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	179	cd07833	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	164	cd06610	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	159_G	cd07846	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	168	cd06622	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	169_G	cd07837	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	201	cd06623	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	175	cd06605	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	168	cd05089	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	209	cd05573	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	161	cd07862	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	206	cd05580	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	160	cd05079	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	166	cd06621	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	195	cd06608	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	153	cd05612	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	155_G	cd06617	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	723	COG0515	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	158	cd07847	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	161	cd05609	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	162	cd07849	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	161	cd05148	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	169	cd07864	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	188	cd05056	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	154	cd05071	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	163	cd05109	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	172	cd05061	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	171	cd05062	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	174	cd05036	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	216	cd05032	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	161	cd07858	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	180	cd07855	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	156	cd05052	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	158	cd05039	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	154	cd05069	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	154	cd05067	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	155	cd05073	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	154	cd05070	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	166	cd05034	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	155	cd05072	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	159	cd05068	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	148_G	cd05083	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	154	cd05082	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	165_G	cd06647	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	167	cd06656	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	292	cd05105	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	157	cd07844	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	155	cd06613	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	153	cd06642	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	217	cd05057	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	157	cd07870	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	153	cd06641	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	153	cd06640	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	163	cd06637	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	175_G	cd06616	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	202	cd07840	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	268	cd05581	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	155_G	cd05601	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	168	cd08529	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	159	cd07831	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	155	cd06626	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	178	cd07838	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	155	cd06643	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	158	cd06620	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	158	cd06645	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	163	cd05063	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	160	cd05064	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	158	cd05065	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	172	cd05093	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	174	cd05092	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	175	cd05094	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	176	cd05090	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	176	cd05091	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	179	cd05048	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	217	cd05051	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	185	cd05050	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	219	cd05096	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	193	cd05095	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	183	cd05097	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	238	cd05046	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	184	cd05049	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	158	cd06646	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	167	cd06634	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	173	cd05088	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	162	cd06644	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	163	cd05108	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	186	cd05099	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	163	cd05110	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	202	cd05053	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	155	cd08216	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	153	cd05578	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	161	cd05118	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	200_G	cd07829	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	228	cd07830	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	163	cd06917	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	157	cd06611	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	158	cd06653	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	159	cd08224	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	182	cd06652	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	167	cd06612	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	198_G	cd06614	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	157	cd06625	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	186	cd07851	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	176	cd06638	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	175	cd05035	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	165	cd05074	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	179	cd05075	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	280	pfam00069	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	466	smart00219	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	327	pfam07714	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	636	smart00221	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	177_G	cd07835	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	159	cd05080	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	151	cd05589	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	550	smart00220	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	178	cd07854	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	150	cd05582	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	291	cd05055	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	294	cd05107	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	168	cd06648	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	276	cd05104	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	168	cd06657	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	177	cd06635	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	170	cd06658	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	147	cd05115	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	165	cd06629	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	169	cd06659	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	169	cd07841	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	179	cd05045	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	154	cd05631	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	152	cd08219	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	162	cd08220	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	160	cd06628	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	158	cd08222	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	154	cd08225	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	158	cd05587	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	172	cd07832	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	153	cd08221	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	155	cd07853	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	154	cd05632	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	223	cd08217	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	175	cd08528	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	212	cd08215	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	149_G	cd07839	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	162	cd07863	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	155	cd07836	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	152	cd07860	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	154	cd07861	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	156_G	cd06651	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	187	cd05122	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	153	cd08223	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	198	cd07834	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	153	cd08218	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	161	cd08530	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	154	cd05605	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	154	cd05630	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	161	cd07857	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	162	cd06627	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	242	cd06606	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	166_G	cd06654	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	173	cd07845	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	196	cd05033	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	197	cd05043	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	161	cd05111	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	183	cd07866	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	161	cd05081	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	161	cd05066	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	185	cd05038	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	153	cd05113	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	152	cd05114	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	154	cd05059	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	152	cd05112	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	189	cd05101	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	192	cd05098	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	161	cd07852	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	233	cd05103	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	281	cd05054	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	231	cd05102	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	167	cd06607	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	146	cd05571	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	157	cd05058	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	148	cd05619	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	163	cd05592	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	147	cd05593	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	155	cd05060	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	147	cd05116	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	155	cd05042	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	152	cd05086	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	146	cd05084	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	169	cd05044	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	157	cd05087	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	146	cd05041	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	160	cd05040	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	148	cd05591	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	148	cd05590	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	161	cd06630	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	147_G	cd05570	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	171	cd06632	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	160	cd05077	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	179	cd05037	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	172_G	cd05076	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	372	cd00192	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	162	cd05078	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	149	cd05608	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	668	cd05123	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	147	cd05607	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	150	cd05606	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	238	cd05579	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	146	cd05085	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	161	cd05047	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	156	cd06631	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	452	cd00180	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	152	cd05577	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	219_G	cd05572	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	186	cd05100	NULL
3643	119395738	Disease	p.Arg1174Gln	147670.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147670	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5	OMIM	166	cd06624	NULL
3460	145559548	Disease	p.Thr168Asn	147569.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147569	ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED	OMIM	50	pfam09294	47419934,NP_005525
3460	145559548	Disease	p.Thr168Asn	147569.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147569	ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED	OMIM	55	cd00063	47419934,NP_005525
3460	145559548	Disease	p.Thr168Asn	147569.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147569	ATYPICAL MYCOBACTERIAL INFECTION, FAMILIAL DISSEMINATED	OMIM	44	smart00060	47419934,NP_005525
3691	54607033	Disease	p.Leu156Pro	147557.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	260	pfam00362	NULL
3691	54607033	Disease	p.Leu156Pro	147557.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	204	smart00187	NULL
3691	54607035	Disease	p.Leu156Pro	147557.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	260	pfam00362	NULL
3691	54607035	Disease	p.Leu156Pro	147557.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	204	smart00187	NULL
3691	54607027	Disease	p.Leu156Pro	147557.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	260	pfam00362	NULL
3691	54607027	Disease	p.Leu156Pro	147557.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	204	smart00187	NULL
3691	54607033	Disease	p.Cys61Tyr	147557.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	86	smart00423	NULL
3691	54607033	Disease	p.Cys61Tyr	147557.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	70	pfam00362	NULL
3691	54607033	Disease	p.Cys61Tyr	147557.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	39	smart00187	NULL
3691	54607035	Disease	p.Cys61Tyr	147557.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	86	smart00423	NULL
3691	54607035	Disease	p.Cys61Tyr	147557.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	70	pfam00362	NULL
3691	54607035	Disease	p.Cys61Tyr	147557.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	39	smart00187	NULL
3691	54607027	Disease	p.Cys61Tyr	147557.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	86	smart00423	NULL
3691	54607027	Disease	p.Cys61Tyr	147557.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	70	pfam00362	NULL
3691	54607027	Disease	p.Cys61Tyr	147557.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	39	smart00187	NULL
3691	54607033	Disease	p.Cys562Arg	147557.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	35	pfam07974	NULL
3691	54607035	Disease	p.Cys562Arg	147557.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	35	pfam07974	NULL
3691	54607027	Disease	p.Cys562Arg	147557.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	35	pfam07974	NULL
3691	54607033	Disease	p.Cys38Arg	147557.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	13	smart00423	NULL
3691	54607033	Disease	p.Cys38Arg	147557.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	2	pfam00362	NULL
3691	54607033	Disease	p.Cys38Arg	147557.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	2	smart00187	NULL
3691	54607035	Disease	p.Cys38Arg	147557.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	13	smart00423	NULL
3691	54607035	Disease	p.Cys38Arg	147557.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	2	pfam00362	NULL
3691	54607035	Disease	p.Cys38Arg	147557.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	2	smart00187	NULL
3691	54607027	Disease	p.Cys38Arg	147557.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	13	smart00423	NULL
3691	54607027	Disease	p.Cys38Arg	147557.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	2	pfam00362	NULL
3691	54607027	Disease	p.Cys38Arg	147557.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	2	smart00187	NULL
3691	54607033	Disease	p.Gly931Asp	147557.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	OMIM	No Domain	N/A	NULL
3691	54607035	Disease	p.Gly931Asp	147557.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	OMIM	No Domain	N/A	NULL
3691	54607027	Disease	p.Gly931Asp	147557.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	OMIM	No Domain	N/A	NULL
3691	54607033	Disease	p.Arg1281Trp	147557.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	135	cd00063	NULL
3691	54607033	Disease	p.Arg1281Trp	147557.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	154	smart00060	NULL
3691	54607033	Disease	p.Arg1281Trp	147557.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	83	pfam00041	NULL
3691	54607035	Disease	p.Arg1281Trp	147557.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	135	cd00063	NULL
3691	54607035	Disease	p.Arg1281Trp	147557.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	154	smart00060	NULL
3691	54607035	Disease	p.Arg1281Trp	147557.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	83	pfam00041	NULL
3691	54607027	Disease	p.Arg1281Trp	147557.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	135	cd00063	NULL
3691	54607027	Disease	p.Arg1281Trp	147557.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	154	smart00060	NULL
3691	54607027	Disease	p.Arg1281Trp	147557.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	83	pfam00041	NULL
3691	54607033	Disease	p.Arg1225His	147557.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	7	cd00063	NULL
3691	54607033	Disease	p.Arg1225His	147557.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	6	smart00060	NULL
3691	54607033	Disease	p.Arg1225His	147557.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	6	pfam00041	NULL
3691	54607035	Disease	p.Arg1225His	147557.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	7	cd00063	NULL
3691	54607035	Disease	p.Arg1225His	147557.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	6	smart00060	NULL
3691	54607035	Disease	p.Arg1225His	147557.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	6	pfam00041	NULL
3691	54607027	Disease	p.Arg1225His	147557.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	7	cd00063	NULL
3691	54607027	Disease	p.Arg1225His	147557.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	6	smart00060	NULL
3691	54607027	Disease	p.Arg1225His	147557.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147557	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA	OMIM	6	pfam00041	NULL
6648	67782305	Disease	p.Ala16Val	147460.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147460	SUPEROXIDE DISMUTASE 2 POLYMORPHISM||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6	OMIM	No Domain	N/A	NULL
6648	67782307	Disease	p.Ala16Val	147460.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147460	SUPEROXIDE DISMUTASE 2 POLYMORPHISM||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6	OMIM	No Domain	N/A	NULL
6648	67782309	Disease	p.Ala16Val	147460.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147460	SUPEROXIDE DISMUTASE 2 POLYMORPHISM||MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6	OMIM	No Domain	N/A	NULL
6647	134611	Disease	p.Gly37Arg	147450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	89	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly37Arg	147450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	47	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly37Arg	147450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	83	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Leu38Val	147450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	90	COG2032	4507149,NP_000445
6647	134611	Disease	p.Leu38Val	147450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	48	cd00305	4507149,NP_000445
6647	134611	Disease	p.Leu38Val	147450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	86	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly41Ser	147450.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	93	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly41Ser	147450.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	51	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly41Ser	147450.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	95	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly41Asp	147450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	93	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly41Asp	147450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	51	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly41Asp	147450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	95	pfam00080	4507149,NP_000445
6647	134611	Disease	p.His43Arg	147450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	96	COG2032	4507149,NP_000445
6647	134611	Disease	p.His43Arg	147450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	64	cd00305	4507149,NP_000445
6647	134611	Disease	p.His43Arg	147450.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	124	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly85Arg	147450.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	153	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly85Arg	147450.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	124	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly85Arg	147450.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	241	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly93Cys	147450.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	161	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly93Cys	147450.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	145	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly93Cys	147450.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	256	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly93Ala	147450.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	161	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly93Ala	147450.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	145	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly93Ala	147450.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	256	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Glu100Gly	147450.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	168	COG2032	4507149,NP_000445
6647	134611	Disease	p.Glu100Gly	147450.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	152	cd00305	4507149,NP_000445
6647	134611	Disease	p.Glu100Gly	147450.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	266	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Leu106Val	147450.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	174	COG2032	4507149,NP_000445
6647	134611	Disease	p.Leu106Val	147450.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	158	cd00305	4507149,NP_000445
6647	134611	Disease	p.Leu106Val	147450.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	279	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Ile113Thr	147450.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	187	COG2032	4507149,NP_000445
6647	134611	Disease	p.Ile113Thr	147450.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	173	cd00305	4507149,NP_000445
6647	134611	Disease	p.Ile113Thr	147450.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	299	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Ala4Val	147450.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	9	COG2032	4507149,NP_000445
6647	134611	Disease	p.Ala4Val	147450.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	2	cd00305	4507149,NP_000445
6647	134611	Disease	p.His46Arg	147450.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	99	COG2032	4507149,NP_000445
6647	134611	Disease	p.His46Arg	147450.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	67	cd00305	4507149,NP_000445
6647	134611	Disease	p.His46Arg	147450.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	132	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Ala4Thr	147450.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	9	COG2032	4507149,NP_000445
6647	134611	Disease	p.Ala4Thr	147450.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	2	cd00305	4507149,NP_000445
6647	134611	Disease	p.Asp90Ala	147450.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1||AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	OMIM	158	COG2032	4507149,NP_000445
6647	134611	Disease	p.Asp90Ala	147450.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1||AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	OMIM	135	cd00305	4507149,NP_000445
6647	134611	Disease	p.Asp90Ala	147450.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1||AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	OMIM	253	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Ile104Phe	147450.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	OMIM	172	COG2032	4507149,NP_000445
6647	134611	Disease	p.Ile104Phe	147450.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	OMIM	156	cd00305	4507149,NP_000445
6647	134611	Disease	p.Ile104Phe	147450.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	OMIM	273	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Leu144Ser	147450.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	231	COG2032	4507149,NP_000445
6647	134611	Disease	p.Leu144Ser	147450.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	204	cd00305	4507149,NP_000445
6647	134611	Disease	p.Leu144Ser	147450.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	386	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Ala145Thr	147450.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	232	COG2032	4507149,NP_000445
6647	134611	Disease	p.Ala145Thr	147450.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	205	cd00305	4507149,NP_000445
6647	134611	Disease	p.Ala145Thr	147450.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	387	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Cys6Phe	147450.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	11	COG2032	4507149,NP_000445
6647	134611	Disease	p.Cys6Phe	147450.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	4	cd00305	4507149,NP_000445
6647	134611	Disease	p.Cys6Phe	147450.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	2	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Thr151Ile	147450.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	No Domain	N/A	4507149,NP_000445
6647	134611	Disease	p.Glu21Lys	147450.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	67	COG2032	4507149,NP_000445
6647	134611	Disease	p.Glu21Lys	147450.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	29	cd00305	4507149,NP_000445
6647	134611	Disease	p.Glu21Lys	147450.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	49	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Ser134Asn	147450.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	216	COG2032	4507149,NP_000445
6647	134611	Disease	p.Ser134Asn	147450.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	194	cd00305	4507149,NP_000445
6647	134611	Disease	p.Ser134Asn	147450.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	366	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Leu84Val	147450.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	152	COG2032	4507149,NP_000445
6647	134611	Disease	p.Leu84Val	147450.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	123	cd00305	4507149,NP_000445
6647	134611	Disease	p.Leu84Val	147450.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	240	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly16Ser	147450.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	64	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly16Ser	147450.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	24	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly16Ser	147450.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	44	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly72Ser	147450.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	138	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly72Ser	147450.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	109	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly72Ser	147450.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	209	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly12Arg	147450.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	59	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly12Arg	147450.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	10	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly12Arg	147450.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	28	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Phe45Cys	147450.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	98	COG2032	4507149,NP_000445
6647	134611	Disease	p.Phe45Cys	147450.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	66	cd00305	4507149,NP_000445
6647	134611	Disease	p.Phe45Cys	147450.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	131	pfam00080	4507149,NP_000445
6647	134611	Disease	p.His80Ala	147450.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	148	COG2032	4507149,NP_000445
6647	134611	Disease	p.His80Ala	147450.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	119	cd00305	4507149,NP_000445
6647	134611	Disease	p.His80Ala	147450.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	235	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Asp96Asn	147450.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	OMIM	164	COG2032	4507149,NP_000445
6647	134611	Disease	p.Asp96Asn	147450.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	OMIM	148	cd00305	4507149,NP_000445
6647	134611	Disease	p.Asp96Asn	147450.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	OMIM	259	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly93Arg	147450.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	161	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly93Arg	147450.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	145	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly93Arg	147450.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147450	AMYOTROPHIC LATERAL SCLEROSIS 1	OMIM	256	pfam00080	4507149,NP_000445
3479	163659899	Disease	p.Val44Met	147440.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147440	INSULIN-LIKE GROWTH FACTOR I DEFICIENCY	OMIM	No Domain	N/A	NULL
3479	11024682	Disease	p.Val44Met	147440.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147440	INSULIN-LIKE GROWTH FACTOR I DEFICIENCY	OMIM	No Domain	N/A	NULL
3479	163659901	Disease	p.Val44Met	147440.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147440	INSULIN-LIKE GROWTH FACTOR I DEFICIENCY	OMIM	10	pfam00049	NULL
3479	163659901	Disease	p.Val44Met	147440.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147440	INSULIN-LIKE GROWTH FACTOR I DEFICIENCY	OMIM	10	smart00078	NULL
3479	163659901	Disease	p.Val44Met	147440.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147440	INSULIN-LIKE GROWTH FACTOR I DEFICIENCY	OMIM	12	cd04367	NULL
3479	163659901	Disease	p.Val44Met	147440.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147440	INSULIN-LIKE GROWTH FACTOR I DEFICIENCY	OMIM	12	cd04368	NULL
3479	163659901	Disease	p.Val44Met	147440.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147440	INSULIN-LIKE GROWTH FACTOR I DEFICIENCY	OMIM	8	cd00101	NULL
3479	163659901	Disease	p.Val44Met	147440.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147440	INSULIN-LIKE GROWTH FACTOR I DEFICIENCY	OMIM	8	cd04366	NULL
3479	124263	Disease	p.Val44Met	147440.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147440	INSULIN-LIKE GROWTH FACTOR I DEFICIENCY	OMIM	No Domain	N/A	163659903,NP_001104755
3480	124240	Disease	p.Arg108Gln	147370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147370	INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO	OMIM	82	pfam01030	4557665,NP_000866
3480	124240	Disease	p.Lys115Asn	147370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147370	INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO	OMIM	95	pfam01030	4557665,NP_000866
3480	124240	Disease	p.Arg709Gln	147370.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147370	INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO	OMIM	No Domain	N/A	4557665,NP_000866
3480	124240	Disease	p.Arg481Gln	147370.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147370	INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO	OMIM	No Domain	N/A	4557665,NP_000866
3708	269954692	Disease	p.Pro1059Leu	147265.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147265	SPINOCEREBELLAR ATAXIA 15	OMIM	No Domain	N/A	NULL
3708	269954690	Disease	p.Pro1059Leu	147265.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147265	SPINOCEREBELLAR ATAXIA 15	OMIM	No Domain	N/A	NULL
3708	269954694	Disease	p.Pro1059Leu	147265.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147265	SPINOCEREBELLAR ATAXIA 15	OMIM	No Domain	N/A	NULL
974	728994	Disease	p.Gly137Ser	147245.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147245	AGAMMAGLOBULINEMIA 6	OMIM	140	pfam07686	11038674,NP_000617
974	728994	Disease	p.Gly137Ser	147245.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147245	AGAMMAGLOBULINEMIA 6	OMIM	243	smart00409	11038674,NP_000617
974	728994	Disease	p.Gly137Ser	147245.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147245	AGAMMAGLOBULINEMIA 6	OMIM	243	smart00410	11038674,NP_000617
974	728994	Disease	p.Gly137Ser	147245.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147245	AGAMMAGLOBULINEMIA 6	OMIM	104	cd04984	11038674,NP_000617
974	728994	Disease	p.Gly137Ser	147245.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147245	AGAMMAGLOBULINEMIA 6	OMIM	131	cd00099	11038674,NP_000617
974	728994	Disease	p.Gly137Ser	147245.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147245	AGAMMAGLOBULINEMIA 6	OMIM	117	cd05899	11038674,NP_000617
974	11038676	Disease	p.Gly137Ser	147245.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147245	AGAMMAGLOBULINEMIA 6	OMIM	No Domain	N/A	NULL
974	90193592	Disease	p.Gly137Ser	147245.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147245	AGAMMAGLOBULINEMIA 6	OMIM	139	pfam07686	NULL
974	90193592	Disease	p.Gly137Ser	147245.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147245	AGAMMAGLOBULINEMIA 6	OMIM	238	smart00409	NULL
974	90193592	Disease	p.Gly137Ser	147245.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147245	AGAMMAGLOBULINEMIA 6	OMIM	238	smart00410	NULL
974	90193592	Disease	p.Gly137Ser	147245.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147245	AGAMMAGLOBULINEMIA 6	OMIM	103	cd04984	NULL
974	90193592	Disease	p.Gly137Ser	147245.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147245	AGAMMAGLOBULINEMIA 6	OMIM	130	cd00099	NULL
974	90193592	Disease	p.Gly137Ser	147245.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147245	AGAMMAGLOBULINEMIA 6	OMIM	116	cd05899	NULL
931	115968	Disease	p.Glu237Gly	147138.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147138	ATOPIC ASTHMA, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	23110989,NP_690605|23110987,NP_068769
931	115968	Disease	p.Glu237Gly	147138.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147138	ATOPIC ASTHMA, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	23110989,NP_690605|23110987,NP_068769
3587	222136575	Disease	p.Gly141Arg	146933.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146933	INFLAMMATORY BOWEL DISEASE 28	OMIM	No Domain	N/A	NULL
3587	222136575	Disease	p.Thr84Ile	146933.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146933	INFLAMMATORY BOWEL DISEASE 28	OMIM	95	pfam01108	NULL
103	70166944	Disease	p.Leu923Pro	146920.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146920	DYSCHROMATOSIS SYMMETRICA HEREDITARIA	OMIM	116	pfam02137	NULL
103	70166944	Disease	p.Leu923Pro	146920.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146920	DYSCHROMATOSIS SYMMETRICA HEREDITARIA	OMIM	158	smart00552	NULL
103	218512096	Disease	p.Leu923Pro	146920.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146920	DYSCHROMATOSIS SYMMETRICA HEREDITARIA	OMIM	No Domain	N/A	70166852,NP_001102
103	70167032	Disease	p.Leu923Pro	146920.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146920	DYSCHROMATOSIS SYMMETRICA HEREDITARIA	OMIM	178	smart00552	NULL
103	70167032	Disease	p.Leu923Pro	146920.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146920	DYSCHROMATOSIS SYMMETRICA HEREDITARIA	OMIM	135	pfam02137	NULL
103	301601658	Disease	p.Leu923Pro	146920.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146920	DYSCHROMATOSIS SYMMETRICA HEREDITARIA	OMIM	557	smart00552	NULL
103	70167113	Disease	p.Leu923Pro	146920.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146920	DYSCHROMATOSIS SYMMETRICA HEREDITARIA	OMIM	557	smart00552	NULL
103	70166944	Disease	p.Phe1165Ser	146920.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146920	DYSCHROMATOSIS SYMMETRICA HEREDITARIA	OMIM	791	pfam02137	NULL
103	70166944	Disease	p.Phe1165Ser	146920.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146920	DYSCHROMATOSIS SYMMETRICA HEREDITARIA	OMIM	530	smart00552	NULL
103	218512096	Disease	p.Phe1165Ser	146920.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146920	DYSCHROMATOSIS SYMMETRICA HEREDITARIA	OMIM	No Domain	N/A	70166852,NP_001102
103	70167032	Disease	p.Phe1165Ser	146920.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146920	DYSCHROMATOSIS SYMMETRICA HEREDITARIA	OMIM	549	smart00552	NULL
103	70167032	Disease	p.Phe1165Ser	146920.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146920	DYSCHROMATOSIS SYMMETRICA HEREDITARIA	OMIM	830	pfam02137	NULL
103	301601658	Disease	p.Phe1165Ser	146920.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146920	DYSCHROMATOSIS SYMMETRICA HEREDITARIA	OMIM	No Domain	N/A	NULL
103	70167113	Disease	p.Phe1165Ser	146920.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146920	DYSCHROMATOSIS SYMMETRICA HEREDITARIA	OMIM	No Domain	N/A	NULL
2212	160332371	Disease	p.Arg131His	146790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146790	LUPUS NEPHRITIS, SUSCEPTIBILITY TO||PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS	OMIM	4	smart00409	210031822,NP_001129691
2212	160332371	Disease	p.Arg131His	146790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146790	LUPUS NEPHRITIS, SUSCEPTIBILITY TO||PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS	OMIM	4	smart00410	210031822,NP_001129691
2212	160332371	Disease	p.Arg131His	146790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146790	LUPUS NEPHRITIS, SUSCEPTIBILITY TO||PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS	OMIM	9	cd05753	210031822,NP_001129691
2212	50511936	Disease	p.Arg131His	146790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146790	LUPUS NEPHRITIS, SUSCEPTIBILITY TO||PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS	OMIM	5	smart00409	NULL
2212	50511936	Disease	p.Arg131His	146790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146790	LUPUS NEPHRITIS, SUSCEPTIBILITY TO||PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS	OMIM	5	smart00410	NULL
2212	50511936	Disease	p.Arg131His	146790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146790	LUPUS NEPHRITIS, SUSCEPTIBILITY TO||PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS	OMIM	10	cd05753	NULL
3543	123944	Disease	p.Pro142Leu	146770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770	AGAMMAGLOBULINEMIA 2	OMIM	13	smart00407	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	146770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770	AGAMMAGLOBULINEMIA 2	OMIM	24	cd00096	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	146770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770	AGAMMAGLOBULINEMIA 2	OMIM	27	pfam07654	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	146770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770	AGAMMAGLOBULINEMIA 2	OMIM	30	cd07697	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	146770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770	AGAMMAGLOBULINEMIA 2	OMIM	30	cd05768	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	146770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770	AGAMMAGLOBULINEMIA 2	OMIM	28	cd05766	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	146770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770	AGAMMAGLOBULINEMIA 2	OMIM	34	cd04986	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	146770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770	AGAMMAGLOBULINEMIA 2	OMIM	36	cd05769	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	146770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770	AGAMMAGLOBULINEMIA 2	OMIM	31	cd07698	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	146770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770	AGAMMAGLOBULINEMIA 2	OMIM	32	cd07696	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	146770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770	AGAMMAGLOBULINEMIA 2	OMIM	43	cd00098	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	146770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770	AGAMMAGLOBULINEMIA 2	OMIM	29	cd05847	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	146770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770	AGAMMAGLOBULINEMIA 2	OMIM	32	cd04985	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	146770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770	AGAMMAGLOBULINEMIA 2	OMIM	31	cd07699	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	146770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770	AGAMMAGLOBULINEMIA 2	OMIM	29	cd05770	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	146770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770	AGAMMAGLOBULINEMIA 2	OMIM	29	cd05767	13399298,NP_064455
3543	23110980	Disease	p.Pro142Leu	146770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770	AGAMMAGLOBULINEMIA 2	OMIM	No Domain	N/A	NULL
2214	50726979	Disease	p.Val106Ile	146740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2	OMIM	153	smart00409	NULL
2214	50726979	Disease	p.Val106Ile	146740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2	OMIM	153	smart00410	NULL
2214	50726979	Disease	p.Val106Ile	146740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2	OMIM	53	cd05752	NULL
2214	50726979	Disease	p.Val106Ile	146740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2	OMIM	90	cd00096	NULL
2214	119876	Disease	p.Val106Ile	146740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2	OMIM	No Domain	N/A	189083838,NP_001121065|189083840,NP_001121067
2214	119876	Disease	p.Val106Ile	146740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2	OMIM	No Domain	N/A	189083838,NP_001121065|189083840,NP_001121067
2214	189083836	Disease	p.Val106Ile	146740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2	OMIM	154	smart00409	NULL
2214	189083836	Disease	p.Val106Ile	146740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2	OMIM	154	smart00410	NULL
2214	189083836	Disease	p.Val106Ile	146740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2	OMIM	54	cd05752	NULL
2214	189083836	Disease	p.Val106Ile	146740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2	OMIM	91	cd00096	NULL
2214	189083842	Disease	p.Val106Ile	146740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2	OMIM	No Domain	N/A	NULL
2214	50726979	Disease	p.Leu48His	146740.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	VIRAL INFECTIONS, RECURRENT, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
2214	119876	Disease	p.Leu48His	146740.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	VIRAL INFECTIONS, RECURRENT, SUSCEPTIBILITY TO	OMIM	19	smart00409	189083838,NP_001121065|189083840,NP_001121067
2214	119876	Disease	p.Leu48His	146740.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	VIRAL INFECTIONS, RECURRENT, SUSCEPTIBILITY TO	OMIM	19	smart00410	189083838,NP_001121065|189083840,NP_001121067
2214	119876	Disease	p.Leu48His	146740.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	VIRAL INFECTIONS, RECURRENT, SUSCEPTIBILITY TO	OMIM	6	cd00096	189083838,NP_001121065|189083840,NP_001121067
2214	119876	Disease	p.Leu48His	146740.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	VIRAL INFECTIONS, RECURRENT, SUSCEPTIBILITY TO	OMIM	23	cd05752	189083838,NP_001121065|189083840,NP_001121067
2214	119876	Disease	p.Leu48His	146740.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	VIRAL INFECTIONS, RECURRENT, SUSCEPTIBILITY TO	OMIM	19	smart00409	189083838,NP_001121065|189083840,NP_001121067
2214	119876	Disease	p.Leu48His	146740.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	VIRAL INFECTIONS, RECURRENT, SUSCEPTIBILITY TO	OMIM	19	smart00410	189083838,NP_001121065|189083840,NP_001121067
2214	119876	Disease	p.Leu48His	146740.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	VIRAL INFECTIONS, RECURRENT, SUSCEPTIBILITY TO	OMIM	6	cd00096	189083838,NP_001121065|189083840,NP_001121067
2214	119876	Disease	p.Leu48His	146740.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	VIRAL INFECTIONS, RECURRENT, SUSCEPTIBILITY TO	OMIM	23	cd05752	189083838,NP_001121065|189083840,NP_001121067
2214	189083836	Disease	p.Leu48His	146740.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	VIRAL INFECTIONS, RECURRENT, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
2214	189083842	Disease	p.Leu48His	146740.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	VIRAL INFECTIONS, RECURRENT, SUSCEPTIBILITY TO	OMIM	7	cd00096	NULL
2214	189083842	Disease	p.Leu48His	146740.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	VIRAL INFECTIONS, RECURRENT, SUSCEPTIBILITY TO	OMIM	24	cd05752	NULL
2214	189083842	Disease	p.Leu48His	146740.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	VIRAL INFECTIONS, RECURRENT, SUSCEPTIBILITY TO	OMIM	20	smart00409	NULL
2214	189083842	Disease	p.Leu48His	146740.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146740	VIRAL INFECTIONS, RECURRENT, SUSCEPTIBILITY TO	OMIM	20	smart00410	NULL
3640	38327535	Disease	p.Asn86Lys	146738.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146738	CRYPTORCHIDISM	OMIM	55	cd00101	NULL
3640	38327535	Disease	p.Asn86Lys	146738.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146738	CRYPTORCHIDISM	OMIM	126	cd04365	NULL
3640	38327535	Disease	p.Asn86Lys	146738.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146738	CRYPTORCHIDISM	OMIM	123	pfam00049	NULL
3640	38327535	Disease	p.Asn86Lys	146738.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146738	CRYPTORCHIDISM	OMIM	71	smart00078	NULL
3640	38327535	Disease	p.Pro93Leu	146738.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146738	CRYPTORCHIDISM	OMIM	131	cd00101	NULL
3640	38327535	Disease	p.Pro93Leu	146738.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146738	CRYPTORCHIDISM	OMIM	133	cd04365	NULL
3640	38327535	Disease	p.Pro93Leu	146738.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146738	CRYPTORCHIDISM	OMIM	130	pfam00049	NULL
3640	38327535	Disease	p.Pro93Leu	146738.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146738	CRYPTORCHIDISM	OMIM	78	smart00078	NULL
3640	38327535	Disease	p.Arg102Cys	146738.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146738	CRYPTORCHIDISM	OMIM	140	cd00101	NULL
3640	38327535	Disease	p.Arg102Cys	146738.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146738	CRYPTORCHIDISM	OMIM	142	cd04365	NULL
3640	38327535	Disease	p.Arg102Cys	146738.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146738	CRYPTORCHIDISM	OMIM	140	pfam00049	NULL
3640	38327535	Disease	p.Arg102Cys	146738.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146738	CRYPTORCHIDISM	OMIM	128	smart00078	NULL
3640	38327535	Disease	p.Arg102His	146738.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146738	CRYPTORCHIDISM	OMIM	140	cd00101	NULL
3640	38327535	Disease	p.Arg102His	146738.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146738	CRYPTORCHIDISM	OMIM	142	cd04365	NULL
3640	38327535	Disease	p.Arg102His	146738.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146738	CRYPTORCHIDISM	OMIM	140	pfam00049	NULL
3640	38327535	Disease	p.Arg102His	146738.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146738	CRYPTORCHIDISM	OMIM	128	smart00078	NULL
3615	124419	Disease	p.Leu263Phe	146691.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146691	IMPDH2 ENZYME ACTIVITY, VARIATION IN	OMIM	272	pfam00478	66933016,NP_000875
3615	124419	Disease	p.Leu263Phe	146691.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146691	IMPDH2 ENZYME ACTIVITY, VARIATION IN	OMIM	222	cd04730	66933016,NP_000875
3615	124419	Disease	p.Leu263Phe	146691.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146691	IMPDH2 ENZYME ACTIVITY, VARIATION IN	OMIM	279	cd00381	66933016,NP_000875
3615	124419	Disease	p.Leu263Phe	146691.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146691	IMPDH2 ENZYME ACTIVITY, VARIATION IN	OMIM	283	cd04722	66933016,NP_000875
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	86	COG0517	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	126	cd00381	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	30	smart00116	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	27	cd04605	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	32	cd04602	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	29	cd04601	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	27	cd04586	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	26	cd04611	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	27	cd04600	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	39	cd02205	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	27	cd04595	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	33	cd04612	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	26	cd04585	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	25	cd04621	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	27	cd04636	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	26	cd04631	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	27	cd04622	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	26	cd04633	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	26	cd04613	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	26	cd04803	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	26	cd04609	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	27	cd04610	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	26	cd04623	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	30	cd04800	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	26	cd04599	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	27	cd04587	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	26	cd04638	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	25	cd04802	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	28	cd04801	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	26	cd04584	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	26	cd04635	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	26	cd04634	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	26	cd04588	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	166	COG0516	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	68	pfam00571	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	113	cd04722	NULL
3614	34328930	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	129	pfam00478	NULL
3614	217035148	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	121	pfam00571	NULL
3614	217035148	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	234	pfam00478	NULL
3614	217035148	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	76	smart00116	NULL
3614	217035148	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	239	cd00381	NULL
3614	217035148	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	199	cd04722	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	61	cd04588	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	69	cd04611	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	83	cd04600	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	142	cd02205	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	65	cd04595	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	102	cd04612	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	84	cd04585	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	89	cd04621	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	88	cd04636	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	86	cd04631	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	69	cd04622	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	78	cd04633	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	97	cd04613	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	97	cd04803	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	74	cd04609	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	57	cd04610	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	85	cd04623	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	96	cd04800	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	55	cd04599	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	88	cd04587	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	60_G	cd04638	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	75	cd04802	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	73	cd04801	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	73	cd04584	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	71	cd04635	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	94	cd04634	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	146	cd04722	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	185	cd00381	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	290	COG0517	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	180	pfam00478	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	61	cd04605	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	73	cd04602	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	70	cd04601	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	95	cd04586	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	3	pfam00571	NULL
3614	34328928	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	206	COG0516	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	136	cd00381	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	34_G	cd04605	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	44	cd04602	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	39	cd04601	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	63	cd04586	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	103	pfam00571	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	60	smart00116	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	180	COG0516	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	34_G	cd04588	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	40	cd04611	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	36_G	cd04600	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	58	cd02205	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	37	cd04595	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	41_G	cd04612	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	38_G	cd04585	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	34_G	cd04621	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	34	cd04636	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	36	cd04631	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	38	cd04622	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	37	cd04633	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	34_G	cd04613	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	32	cd04803	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	41	cd04609	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	33	cd04610	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	54	cd04623	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	65	cd04800	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	33_G	cd04599	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	39	cd04587	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	36	cd04638	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	32	cd04802	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	36_G	cd04801	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	34_G	cd04584	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	34_G	cd04635	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	34_G	cd04634	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	139	pfam00478	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	177	COG0517	NULL
3614	156616279	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	122	cd04722	NULL
3614	217035150	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	258	pfam00478	NULL
3614	217035150	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	219	cd04722	NULL
3614	217035150	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	259	cd00381	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	203	COG0516	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	177	pfam00478	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	200	COG0517	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	58	cd04588	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	66	cd04611	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	58	cd04600	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	97	cd02205	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	62	cd04595	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	64	cd04612	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	60	cd04585	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	57	cd04621	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	85	cd04636	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	67	cd04631	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	64	cd04622	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	75	cd04633	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	94	cd04613	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	94	cd04803	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	71	cd04609	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	54	cd04610	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	78	cd04623	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	93	cd04800	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	52	cd04599	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	85	cd04587	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	59	cd04638	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	72	cd04802	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	59	cd04801	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	70	cd04584	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	68	cd04635	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	91	cd04634	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	58	cd04605	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	67	cd04602	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	66	cd04601	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	93_G	cd04586	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	159	cd00381	NULL
3614	217035152	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	143	cd04722	NULL
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	482	COG0517	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	229	pfam00478	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	108	cd04605	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	125	cd04602	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	120	cd04601	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	143	cd04586	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	71	smart00116	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	108	cd04588	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	117	cd04611	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	132	cd04600	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	228	cd02205	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	116	cd04595	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	154	cd04612	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	132	cd04585	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	137	cd04621	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	141	cd04636	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	134	cd04631	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	121	cd04622	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	125	cd04633	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	148	cd04613	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	144	cd04803	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	124	cd04609	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	106	cd04610	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	152	cd04623	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	147	cd04800	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	102	cd04599	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	136	cd04587	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	106	cd04638	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	122	cd04802	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	125	cd04801	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	120	cd04584	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	130	cd04635	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	141	cd04634	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	116	pfam00571	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	255	COG0516	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	234	cd00381	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	146690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	194	cd04722	217035146,NP_001136045
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	296	COG0517	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	191	cd00381	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	67	cd04605	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	79	cd04602	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	75_G	cd04601	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	101	cd04586	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	74_G	cd04611	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	89	cd04600	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	148	cd02205	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	69	cd04595	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	108	cd04612	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	90	cd04585	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	93_G	cd04621	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	94	cd04636	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	90_G	cd04631	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	73_G	cd04622	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	82_G	cd04633	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	103	cd04613	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	103	cd04803	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	80	cd04609	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	63	cd04610	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	89_G	cd04623	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	100_G	cd04800	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	59	cd04599	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	94	cd04587	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	63_G	cd04638	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	79_G	cd04802	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	79	cd04801	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	79	cd04584	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	78	cd04635	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	98_G	cd04634	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	65	cd04588	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	212	COG0516	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	11	pfam00571	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	151_G	cd04722	NULL
3614	34328930	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	186	pfam00478	NULL
3614	217035148	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	288	pfam00478	NULL
3614	217035148	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	294	cd00381	NULL
3614	217035148	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	293	cd04722	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	64	smart00116	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	101	cd04588	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	110	cd04611	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	125	cd04600	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	216	cd02205	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	109	cd04595	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	147	cd04612	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	125	cd04585	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	130	cd04621	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	134	cd04636	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	127	cd04631	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	114	cd04622	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	118	cd04633	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	141	cd04613	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	137	cd04803	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	117	cd04609	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	99	cd04610	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	145	cd04623	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	140	cd04800	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	95	cd04599	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	129	cd04587	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	99	cd04638	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	115	cd04802	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	118	cd04801	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	113	cd04584	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	123	cd04635	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	134	cd04634	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	187	cd04722	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	227	cd00381	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	475	COG0517	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	222	pfam00478	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	101	cd04605	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	117	cd04602	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	113	cd04601	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	136	cd04586	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	107	pfam00571	NULL
3614	34328928	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	248	COG0516	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	201	cd00381	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	75	cd04605	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	90	cd04602	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	86	cd04601	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	110	cd04586	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	10	smart00116	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	39	pfam00571	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	222	COG0516	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	75	cd04588	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	83	cd04611	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	97	cd04600	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	173	cd02205	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	79	cd04595	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	118	cd04612	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	98	cd04585	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	104	cd04621	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	106	cd04636	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	100	cd04631	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	84	cd04622	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	92	cd04633	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	112	cd04613	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	111	cd04803	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	89	cd04609	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	73	cd04610	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	108	cd04623	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	110	cd04800	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	69	cd04599	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	104	cd04587	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	73	cd04638	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	89	cd04802	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	90	cd04801	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	87	cd04584	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	85	cd04635	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	108	cd04634	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	196	pfam00478	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	344	COG0517	NULL
3614	156616279	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	161	cd04722	NULL
3614	217035150	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	308	pfam00478	NULL
3614	217035150	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	11	COG0516	NULL
3614	217035150	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	361	cd04722	NULL
3614	217035150	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	316	cd00381	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	245	COG0516	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	219	pfam00478	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	392	COG0517	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	61	smart00116	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	104	pfam00571	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	98	cd04588	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	107	cd04611	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	122	cd04600	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	213	cd02205	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	106	cd04595	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	144	cd04612	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	122	cd04585	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	127	cd04621	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	131	cd04636	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	124	cd04631	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	111	cd04622	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	115	cd04633	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	138	cd04613	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	134	cd04803	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	114	cd04609	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	96	cd04610	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	142	cd04623	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	137	cd04800	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	92	cd04599	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	126	cd04587	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	96	cd04638	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	112	cd04802	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	115	cd04801	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	110	cd04584	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	120	cd04635	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	131	cd04634	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	98	cd04605	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	114	cd04602	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	110	cd04601	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	133	cd04586	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	224	cd00381	NULL
3614	217035152	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	184	cd04722	NULL
3614	25014074	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	281	pfam00478	217035146,NP_001136045
3614	25014074	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	284	cd00381	217035146,NP_001136045
3614	25014074	Disease	p.Val268Ile	146690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	288	cd04722	217035146,NP_001136045
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	84	COG0517	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	124	cd00381	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	28	smart00116	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	25	cd04605	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	30	cd04602	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	27	cd04601	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	25	cd04586	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	24	cd04611	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	25	cd04600	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	37	cd02205	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	25	cd04595	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	31	cd04612	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	24	cd04585	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	23	cd04621	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	25	cd04636	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	24	cd04631	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	25	cd04622	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	24	cd04633	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	24	cd04613	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	24	cd04803	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	24	cd04609	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	25	cd04610	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	24	cd04623	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	24	cd04800	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	24	cd04599	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	24	cd04587	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	24	cd04638	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	23	cd04802	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	26	cd04801	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	24	cd04584	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	24	cd04635	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	24	cd04634	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	24	cd04588	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	164	COG0516	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	66	pfam00571	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	111	cd04722	NULL
3614	34328930	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	127	pfam00478	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	119	pfam00571	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	232	pfam00478	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	120	cd04611	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	135	cd04600	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	231	cd02205	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	119	cd04595	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	157	cd04612	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	135	cd04585	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	140	cd04621	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	144	cd04636	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	137	cd04631	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	124	cd04622	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	128	cd04633	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	151	cd04613	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	147	cd04803	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	127	cd04609	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	109	cd04610	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	155	cd04623	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	150	cd04800	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	105	cd04599	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	139	cd04587	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	109	cd04638	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	125	cd04802	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	128	cd04801	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	123	cd04584	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	133	cd04635	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	144	cd04634	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	74	smart00116	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	237	cd00381	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	197	cd04722	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	111	cd04605	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	128	cd04602	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	123	cd04601	NULL
3614	217035148	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	146	cd04586	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	59	cd04588	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	67	cd04611	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	59	cd04600	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	140	cd02205	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	63	cd04595	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	100	cd04612	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	68	cd04585	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	58	cd04621	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	86	cd04636	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	84	cd04631	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	67	cd04622	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	76	cd04633	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	95	cd04613	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	95	cd04803	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	72	cd04609	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	55	cd04610	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	83	cd04623	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	94	cd04800	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	53	cd04599	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	86	cd04587	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	60	cd04638	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	73	cd04802	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	71	cd04801	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	71	cd04584	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	69	cd04635	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	92	cd04634	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	144	cd04722	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	160	cd00381	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	288	COG0517	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	178	pfam00478	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	59	cd04605	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	71	cd04602	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	68	cd04601	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	93_G	cd04586	NULL
3614	34328928	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	204	COG0516	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	134	cd00381	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	34_G	cd04605	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	40	cd04602	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	37	cd04601	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	54	cd04586	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	101	pfam00571	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	58	smart00116	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	178	COG0516	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	34_G	cd04588	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	34	cd04611	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	36	cd04600	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	56	cd02205	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	35	cd04595	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	41_G	cd04612	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	38_G	cd04585	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	33	cd04621	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	32_G	cd04636	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	34	cd04631	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	35	cd04622	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	35	cd04633	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	34	cd04613	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	31_G	cd04803	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	39	cd04609	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	32_G	cd04610	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	34	cd04623	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	63	cd04800	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	33_G	cd04599	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	37	cd04587	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	34	cd04638	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	30_G	cd04802	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	36_G	cd04801	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	34_G	cd04584	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	34_G	cd04635	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	34_G	cd04634	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	137	pfam00478	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	175	COG0517	NULL
3614	156616279	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	120	cd04722	NULL
3614	217035150	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	256	pfam00478	NULL
3614	217035150	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	217	cd04722	NULL
3614	217035150	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	257	cd00381	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	201	COG0516	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	175	pfam00478	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	198	COG0517	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	55	cd04588	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	64	cd04611	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	56	cd04600	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	95	cd02205	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	60	cd04595	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	62	cd04612	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	58	cd04585	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	55	cd04621	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	57	cd04636	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	65	cd04631	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	62	cd04622	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	59	cd04633	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	92	cd04613	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	92	cd04803	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	63	cd04609	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	52	cd04610	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	76	cd04623	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	88	cd04800	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	50	cd04599	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	80	cd04587	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	57	cd04638	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	70	cd04802	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	57	cd04801	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	68	cd04584	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	66	cd04635	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	89	cd04634	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	56	cd04605	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	65	cd04602	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	64	cd04601	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	92	cd04586	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	157	cd00381	NULL
3614	217035152	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	141	cd04722	NULL
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	480	COG0517	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	227	pfam00478	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	106	cd04605	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	123	cd04602	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	118	cd04601	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	141	cd04586	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	69	smart00116	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	106	cd04588	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	115	cd04611	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	130	cd04600	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	221	cd02205	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	114	cd04595	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	152	cd04612	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	130	cd04585	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	135	cd04621	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	139	cd04636	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	132	cd04631	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	119	cd04622	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	123	cd04633	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	146	cd04613	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	142	cd04803	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	122	cd04609	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	104	cd04610	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	150	cd04623	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	145	cd04800	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	100	cd04599	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	134	cd04587	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	104	cd04638	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	120	cd04802	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	123	cd04801	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	118	cd04584	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	128	cd04635	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	139	cd04634	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	114	pfam00571	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	253	COG0516	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	232	cd00381	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	146690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	RETINITIS PIGMENTOSA 10	OMIM	192	cd04722	217035146,NP_001136045
3614	34328930	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	5	COG0516	NULL
3614	217035148	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	98	pfam00478	NULL
3614	217035148	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	7	COG0517	NULL
3614	217035148	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	130	COG0516	NULL
3614	217035148	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	95	cd00381	NULL
3614	217035148	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	76	cd04722	NULL
3614	34328928	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	30	cd00381	NULL
3614	34328928	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	34	pfam00478	NULL
3614	34328928	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	48	COG0516	NULL
3614	156616279	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	2	cd00381	NULL
3614	156616279	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	19	COG0516	NULL
3614	156616279	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	3	pfam00478	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	44	pfam00571	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	118	pfam00478	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	16	cd04605	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	17	cd04602	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	16	cd04601	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	16	cd04586	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	cd04611	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	16	cd04600	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	18	cd02205	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	16	cd04595	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	20	cd04612	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	cd04585	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	cd04621	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	16	cd04636	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	cd04631	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	cd04622	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	cd04633	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	cd04613	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	cd04803	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	cd04609	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	16	cd04610	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	cd04623	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	cd04800	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	cd04599	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	cd04587	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	cd04638	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	cd04802	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	cd04801	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	cd04584	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	cd04635	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	cd04634	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	cd04588	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	32	COG0517	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	14	smart00116	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	102	cd04722	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	155	COG0516	NULL
3614	217035150	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	115	cd00381	NULL
3614	217035152	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	45	COG0516	NULL
3614	217035152	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	28	pfam00478	NULL
3614	217035152	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	27	cd00381	NULL
3614	25014074	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	2	COG0517	217035146,NP_001136045
3614	25014074	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	92	pfam00478	217035146,NP_001136045
3614	25014074	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	130	COG0516	217035146,NP_001136045
3614	25014074	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	90	cd00381	217035146,NP_001136045
3614	25014074	Disease	p.Arg105Trp	146690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	77	cd04722	217035146,NP_001136045
3614	34328930	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	COG0517	NULL
3614	34328930	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	98	cd00381	NULL
3614	34328930	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	138	COG0516	NULL
3614	34328930	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	4	pfam00571	NULL
3614	34328930	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	85	cd04722	NULL
3614	34328930	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	101	pfam00478	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	57	pfam00571	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	206	pfam00478	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	93	cd04611	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	107	cd04600	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	183	cd02205	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	89	cd04595	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	128	cd04612	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	108	cd04585	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	114	cd04621	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	116	cd04636	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	110	cd04631	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	94	cd04622	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	102	cd04633	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	122	cd04613	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	121	cd04803	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	99	cd04609	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	83	cd04610	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	118	cd04623	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	120	cd04800	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	79	cd04599	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	112	cd04587	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	83	cd04638	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	99	cd04802	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	100	cd04801	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	97	cd04584	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	95	cd04635	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	118	cd04634	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	85	cd04588	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	354	COG0517	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	20	smart00116	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	232	COG0516	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	211	cd00381	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	171	cd04722	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	85	cd04605	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	100	cd04602	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	96	cd04601	NULL
3614	217035148	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	120	cd04586	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	101	pfam00571	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	34_G	cd04588	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	34	cd04611	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	36	cd04600	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	56	cd02205	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	35	cd04595	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	41_G	cd04612	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	38_G	cd04585	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	33	cd04621	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	32_G	cd04636	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	34	cd04631	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	35	cd04622	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	35	cd04633	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	34	cd04613	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	31_G	cd04803	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	39	cd04609	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	32_G	cd04610	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	34	cd04623	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	63	cd04800	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	33_G	cd04599	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	37	cd04587	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	34	cd04638	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	30_G	cd04802	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	36_G	cd04801	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	34_G	cd04584	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	34_G	cd04635	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	34_G	cd04634	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	120	cd04722	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	134	cd00381	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	175	COG0517	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	58	smart00116	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	137	pfam00478	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	34_G	cd04605	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	40	cd04602	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	37	cd04601	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	54	cd04586	NULL
3614	34328928	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	178	COG0516	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	108	cd00381	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	9	cd04605	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	9	cd04602	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	9	cd04601	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	9	cd04586	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	32	pfam00571	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	7	smart00116	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	148	COG0516	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04588	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04611	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	9	cd04600	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd02205	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	9	cd04595	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04612	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04585	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04621	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04636	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04631	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04622	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04633	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04613	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04803	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04609	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	9	cd04610	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04623	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04800	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04599	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04587	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	9	cd04638	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04802	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04801	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04584	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04635	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	8	cd04634	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	111	pfam00478	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	25	COG0517	NULL
3614	156616279	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	95	cd04722	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	68	smart00116	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	226	pfam00478	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	105	cd04605	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	121	cd04602	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	117	cd04601	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	140	cd04586	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	114	cd04611	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	129	cd04600	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	220	cd02205	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	113	cd04595	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	151	cd04612	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	129	cd04585	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	134	cd04621	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	138	cd04636	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	131	cd04631	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	118	cd04622	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	122	cd04633	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	145	cd04613	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	141	cd04803	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	121	cd04609	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	103	cd04610	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	149	cd04623	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	144	cd04800	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	99	cd04599	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	133	cd04587	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	103	cd04638	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	119	cd04802	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	122	cd04801	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	117	cd04584	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	127	cd04635	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	138	cd04634	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	105	cd04588	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	479	COG0517	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	191	cd04722	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	252	COG0516	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	231	cd00381	NULL
3614	217035150	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	113	pfam00571	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	171	COG0516	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	134	pfam00478	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	91	COG0517	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	31	cd04588	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	31	cd04611	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	32	cd04600	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	44	cd02205	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	32	cd04595	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	38	cd04612	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	31	cd04585	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	30	cd04621	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	32	cd04636	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	31	cd04631	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	32	cd04622	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	31	cd04633	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	31	cd04613	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	31	cd04803	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	31	cd04609	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	32	cd04610	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	31	cd04623	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	35	cd04800	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	31	cd04599	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	32	cd04587	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	31	cd04638	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	30	cd04802	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	33	cd04801	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	31	cd04584	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	31	cd04635	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	31	cd04634	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	32	cd04605	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	37	cd04602	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	34	cd04601	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	51	cd04586	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	91	pfam00571	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	35	smart00116	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	131	cd00381	NULL
3614	217035152	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	118	cd04722	NULL
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	349	COG0517	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	201	pfam00478	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	80	cd04605	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	95	cd04602	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	91	cd04601	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	115	cd04586	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	15	smart00116	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	80	cd04588	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	88	cd04611	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	102	cd04600	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	178	cd02205	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	84	cd04595	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	123	cd04612	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	103	cd04585	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	109	cd04621	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	111	cd04636	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	105	cd04631	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	89	cd04622	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	97	cd04633	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	117	cd04613	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	116	cd04803	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	94	cd04609	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	78	cd04610	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	113	cd04623	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	115	cd04800	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	74	cd04599	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	107	cd04587	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	78	cd04638	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	94	cd04802	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	95	cd04801	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	92	cd04584	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	90	cd04635	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	113	cd04634	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	45	pfam00571	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	227	COG0516	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	206	cd00381	217035146,NP_001136045
3614	25014074	Disease	p.Asn198Lys	146690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146690	LEBER CONGENITAL AMAUROSIS 11	OMIM	166	cd04722	217035146,NP_001136045
3575	28610151	Disease	p.Thr66Ile	146661.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146661	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE	OMIM	No Domain	N/A	NULL
3575	28610151	Disease	p.Ile138Val	146661.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146661	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE	OMIM	10	pfam00041	NULL
3575	28610151	Disease	p.Pro132Ser	146661.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146661	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE	OMIM	3	pfam00041	NULL
3032	116241345	Disease	p.Asp263Gly	143450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	287	cd00327	4504327,NP_000174
3032	116241345	Disease	p.Asp263Gly	143450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	250	cd00829	4504327,NP_000174
3032	116241345	Disease	p.Asp263Gly	143450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	201	cd00826	4504327,NP_000174
3032	116241345	Disease	p.Asp263Gly	143450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	281	COG0183	4504327,NP_000174
3032	116241345	Disease	p.Asp263Gly	143450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	221	pfam00108	4504327,NP_000174
3032	116241345	Disease	p.Asp263Gly	143450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	299	cd00751	4504327,NP_000174
3032	116241345	Disease	p.Arg61His	143450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	68	cd00327	4504327,NP_000174
3032	116241345	Disease	p.Arg61His	143450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	5	cd00829	4504327,NP_000174
3032	116241345	Disease	p.Arg61His	143450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	5	cd00826	4504327,NP_000174
3032	116241345	Disease	p.Arg61His	143450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	11	COG0183	4504327,NP_000174
3032	116241345	Disease	p.Arg61His	143450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	11	pfam00108	4504327,NP_000174
3032	116241345	Disease	p.Arg61His	143450.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	7	cd00751	4504327,NP_000174
3032	116241345	Disease	p.Arg247His	143450.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	271	cd00327	4504327,NP_000174
3032	116241345	Disease	p.Arg247His	143450.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	233_G	cd00829	4504327,NP_000174
3032	116241345	Disease	p.Arg247His	143450.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	185	cd00826	4504327,NP_000174
3032	116241345	Disease	p.Arg247His	143450.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	254	COG0183	4504327,NP_000174
3032	116241345	Disease	p.Arg247His	143450.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	204	pfam00108	4504327,NP_000174
3032	116241345	Disease	p.Arg247His	143450.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	272	cd00751	4504327,NP_000174
3032	116241345	Disease	p.Arg411Lys	143450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	478	cd00327	4504327,NP_000174
3032	116241345	Disease	p.Arg411Lys	143450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	443	cd00829	4504327,NP_000174
3032	116241345	Disease	p.Arg411Lys	143450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	372_G	cd00826	4504327,NP_000174
3032	116241345	Disease	p.Arg411Lys	143450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	511	COG0183	4504327,NP_000174
3032	116241345	Disease	p.Arg411Lys	143450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	82	pfam02803	4504327,NP_000174
3032	116241345	Disease	p.Arg411Lys	143450.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	511	cd00751	4504327,NP_000174
3032	116241345	Disease	p.Val422Gly	143450.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	486	cd00327	4504327,NP_000174
3032	116241345	Disease	p.Val422Gly	143450.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	461	cd00829	4504327,NP_000174
3032	116241345	Disease	p.Val422Gly	143450.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	377	cd00826	4504327,NP_000174
3032	116241345	Disease	p.Val422Gly	143450.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	532	COG0183	4504327,NP_000174
3032	116241345	Disease	p.Val422Gly	143450.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	93	pfam02803	4504327,NP_000174
3032	116241345	Disease	p.Val422Gly	143450.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143450	TRIFUNCTIONAL PROTEIN DEFICIENCY	OMIM	522	cd00751	4504327,NP_000174
3110	259155340	Disease	p.Thr248Ser	142994.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142994	CURRARINO SYNDROME	OMIM	No Domain	N/A	NULL
3110	259016336	Disease	p.Thr248Ser	142994.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142994	CURRARINO SYNDROME	OMIM	7	pfam00046	89257348,NP_005506
3110	259016336	Disease	p.Thr248Ser	142994.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142994	CURRARINO SYNDROME	OMIM	12	smart00389	89257348,NP_005506
3110	259016336	Disease	p.Thr248Ser	142994.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142994	CURRARINO SYNDROME	OMIM	7	cd00086	89257348,NP_005506
338917	17374365	Disease	p.Arg200Gln	142993.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142993	MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES	OMIM	62	pfam00046	34365783,NP_878314
338917	17374365	Disease	p.Arg200Gln	142993.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142993	MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES	OMIM	92	smart00389	34365783,NP_878314
338917	17374365	Disease	p.Arg200Gln	142993.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142993	MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES	OMIM	84	cd00086	34365783,NP_878314
338917	17374365	Disease	p.Arg200Gln	142993.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142993	MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES	OMIM	105	COG5576	34365783,NP_878314
338917	17374365	Disease	p.Arg200Pro	142993.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142993	MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES||MICROPHTHALMIA, ISOLATED 2	OMIM	62	pfam00046	34365783,NP_878314
338917	17374365	Disease	p.Arg200Pro	142993.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142993	MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES||MICROPHTHALMIA, ISOLATED 2	OMIM	92	smart00389	34365783,NP_878314
338917	17374365	Disease	p.Arg200Pro	142993.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142993	MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES||MICROPHTHALMIA, ISOLATED 2	OMIM	84	cd00086	34365783,NP_878314
338917	17374365	Disease	p.Arg200Pro	142993.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142993	MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES||MICROPHTHALMIA, ISOLATED 2	OMIM	105	COG5576	34365783,NP_878314
338917	17374365	Disease	p.Arg227Trp	142993.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142993	MICROPHTHALMIA, ISOLATED 2	OMIM	146	COG5576	34365783,NP_878314
3239	223590221	Disease	p.Ile314Leu	142989.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142989	BRACHYDACTYLY, TYPE E||BRACHYDACTYLY, TYPE D	OMIM	48	pfam00046	116734702,NP_000514
3239	223590221	Disease	p.Ile314Leu	142989.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142989	BRACHYDACTYLY, TYPE E||BRACHYDACTYLY, TYPE D	OMIM	57	smart00389	116734702,NP_000514
3239	223590221	Disease	p.Ile314Leu	142989.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142989	BRACHYDACTYLY, TYPE E||BRACHYDACTYLY, TYPE D	OMIM	49	cd00086	116734702,NP_000514
3239	223590221	Disease	p.Ser308Cys	142989.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142989	BRACHYDACTYLY, TYPE E||BRACHYDACTYLY, TYPE D	OMIM	37	pfam00046	116734702,NP_000514
3239	223590221	Disease	p.Ser308Cys	142989.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142989	BRACHYDACTYLY, TYPE E||BRACHYDACTYLY, TYPE D	OMIM	51	smart00389	116734702,NP_000514
3239	223590221	Disease	p.Ser308Cys	142989.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142989	BRACHYDACTYLY, TYPE E||BRACHYDACTYLY, TYPE D	OMIM	43	cd00086	116734702,NP_000514
3239	223590221	Disease	p.Arg298Trp	142989.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142989	SYNPOLYDACTYLY 1	OMIM	27	pfam00046	116734702,NP_000514
3239	223590221	Disease	p.Arg298Trp	142989.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142989	SYNPOLYDACTYLY 1	OMIM	30	smart00389	116734702,NP_000514
3239	223590221	Disease	p.Arg298Trp	142989.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142989	SYNPOLYDACTYLY 1	OMIM	33	cd00086	116734702,NP_000514
3239	223590221	Disease	p.Gln317Arg	142989.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142989	SYNDACTYLY, TYPE V	OMIM	51	pfam00046	116734702,NP_000514
3239	223590221	Disease	p.Gln317Arg	142989.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142989	SYNDACTYLY, TYPE V	OMIM	81	smart00389	116734702,NP_000514
3239	223590221	Disease	p.Gln317Arg	142989.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142989	SYNDACTYLY, TYPE V	OMIM	73	cd00086	116734702,NP_000514
3239	223590221	Disease	p.Gly220Val	142989.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142989	SYNPOLYDACTYLY 1	OMIM	No Domain	N/A	116734702,NP_000514
3236	143811403	Disease	p.Met319Lys	142984.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142984	VERTICAL TALUS, CONGENITAL||CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF	OMIM	63	pfam00046	23510366,NP_002139
3236	143811403	Disease	p.Met319Lys	142984.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142984	VERTICAL TALUS, CONGENITAL||CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF	OMIM	93	smart00389	23510366,NP_002139
3236	143811403	Disease	p.Met319Lys	142984.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142984	VERTICAL TALUS, CONGENITAL||CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF	OMIM	85	cd00086	23510366,NP_002139
3209	116242513	Disease	p.Asn51His	142959.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142959	HAND-FOOT-GENITAL SYNDROME	OMIM	No Domain	N/A	24497554,NP_000513
3115	310124777	Disease	p.Lys69Glu	142858.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142858	BERYLLIUM DISEASE, CHRONIC, SUSCEPTIBILITY TO	OMIM	34	pfam00969	NULL
3115	310124773	Disease	p.Lys69Glu	142858.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142858	BERYLLIUM DISEASE, CHRONIC, SUSCEPTIBILITY TO	OMIM	34	pfam00969	NULL
3115	122263	Disease	p.Lys69Glu	142858.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142858	BERYLLIUM DISEASE, CHRONIC, SUSCEPTIBILITY TO	OMIM	34	pfam00969	24797076,NP_002112
3115	310124779	Disease	p.Lys69Glu	142858.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142858	BERYLLIUM DISEASE, CHRONIC, SUSCEPTIBILITY TO	OMIM	34	pfam00969	NULL
3115	310124771	Disease	p.Lys69Glu	142858.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142858	BERYLLIUM DISEASE, CHRONIC, SUSCEPTIBILITY TO	OMIM	34	pfam00969	NULL
3115	310124775	Disease	p.Lys69Glu	142858.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142858	BERYLLIUM DISEASE, CHRONIC, SUSCEPTIBILITY TO	OMIM	34	pfam00969	NULL
3115	310124781	Disease	p.Lys69Glu	142858.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142858	BERYLLIUM DISEASE, CHRONIC, SUSCEPTIBILITY TO	OMIM	34	pfam00969	NULL
3084	236463969	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	40	pfam00047	NULL
3084	236463969	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05750	NULL
3084	236463969	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05895	NULL
3084	236463969	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	82	cd00096	NULL
3084	236463969	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	44_G	cd05728	NULL
3084	236463969	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	pfam07679	NULL
3084	236463969	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00409	NULL
3084	236463969	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00410	NULL
3084	236463969	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	43	cd05729	NULL
3084	236463969	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	smart00408	NULL
3084	236463969	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	84	pfam07686	NULL
3084	116006967	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	No Domain	N/A	NULL
3084	236462348	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	58	cd05750	NULL
3084	236462348	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	58	cd05895	NULL
3084	236462348	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	119	cd00096	NULL
3084	236462348	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	114	smart00408	NULL
3084	236462348	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	189	smart00409	NULL
3084	236462348	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	189	smart00410	NULL
3084	236462348	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	cd05729	NULL
3084	236462348	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	89	pfam07679	NULL
3084	236462348	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	cd05728	NULL
3084	236462348	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	106	pfam07686	NULL
3084	236462348	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	84	pfam00047	NULL
3084	236464356	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00409	NULL
3084	236464356	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00410	NULL
3084	236464356	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	43	cd05729	NULL
3084	236464356	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	40	pfam00047	NULL
3084	236464356	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05750	NULL
3084	236464356	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05895	NULL
3084	236464356	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	82	cd00096	NULL
3084	236464356	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	44_G	cd05728	NULL
3084	236464356	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	smart00408	NULL
3084	236464356	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	pfam07679	NULL
3084	236464356	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	84	pfam07686	NULL
3084	236461846	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	5	pfam02158	NULL
3084	116006955	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	40	pfam00047	NULL
3084	116006955	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05750	NULL
3084	116006955	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05895	NULL
3084	116006955	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	82	cd00096	NULL
3084	116006955	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	44_G	cd05728	NULL
3084	116006955	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	pfam07679	NULL
3084	116006955	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00409	NULL
3084	116006955	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00410	NULL
3084	116006955	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	43	cd05729	NULL
3084	116006955	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	smart00408	NULL
3084	116006955	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	84	pfam07686	NULL
3084	236462773	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	58	cd05750	NULL
3084	236462773	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	58	cd05895	NULL
3084	236462773	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	119	cd00096	NULL
3084	236462773	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	114	smart00408	NULL
3084	236462773	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	189	smart00409	NULL
3084	236462773	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	189	smart00410	NULL
3084	236462773	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	cd05729	NULL
3084	236462773	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	89	pfam07679	NULL
3084	236462773	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	cd05728	NULL
3084	236462773	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	106	pfam07686	NULL
3084	236462773	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	84	pfam00047	NULL
3084	236462984	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00409	NULL
3084	236462984	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00410	NULL
3084	236462984	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	43	cd05729	NULL
3084	236462984	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	40	pfam00047	NULL
3084	236462984	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05750	NULL
3084	236462984	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05895	NULL
3084	236462984	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	82	cd00096	NULL
3084	236462984	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	44_G	cd05728	NULL
3084	236462984	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	smart00408	NULL
3084	236462984	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	pfam07679	NULL
3084	236462984	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	84	pfam07686	NULL
3084	9297018	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	40	pfam00047	7669526,NP_039258
3084	9297018	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05750	7669526,NP_039258
3084	9297018	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05895	7669526,NP_039258
3084	9297018	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	82	cd00096	7669526,NP_039258
3084	9297018	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	44_G	cd05728	7669526,NP_039258
3084	9297018	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	pfam07679	7669526,NP_039258
3084	9297018	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00409	7669526,NP_039258
3084	9297018	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00410	7669526,NP_039258
3084	9297018	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	43	cd05729	7669526,NP_039258
3084	9297018	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	smart00408	7669526,NP_039258
3084	9297018	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	84	pfam07686	7669526,NP_039258
3084	116006965	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00409	NULL
3084	116006965	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00410	NULL
3084	116006965	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	43	cd05729	NULL
3084	116006965	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	40	pfam00047	NULL
3084	116006965	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05750	NULL
3084	116006965	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05895	NULL
3084	116006965	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	82	cd00096	NULL
3084	116006965	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	44_G	cd05728	NULL
3084	116006965	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	smart00408	NULL
3084	116006965	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	pfam07679	NULL
3084	116006965	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	84	pfam07686	NULL
3084	236463556	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	40	pfam00047	NULL
3084	236463556	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05750	NULL
3084	236463556	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05895	NULL
3084	236463556	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	82	cd00096	NULL
3084	236463556	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	44_G	cd05728	NULL
3084	236463556	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	pfam07679	NULL
3084	236463556	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00409	NULL
3084	236463556	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00410	NULL
3084	236463556	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	43	cd05729	NULL
3084	236463556	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	smart00408	NULL
3084	236463556	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	84	pfam07686	NULL
3084	7669520	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	40	pfam00047	NULL
3084	7669520	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05750	NULL
3084	7669520	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05895	NULL
3084	7669520	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	82	cd00096	NULL
3084	7669520	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	44_G	cd05728	NULL
3084	7669520	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	pfam07679	NULL
3084	7669520	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00409	NULL
3084	7669520	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00410	NULL
3084	7669520	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	43	cd05729	NULL
3084	7669520	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	smart00408	NULL
3084	7669520	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	84	pfam07686	NULL
3084	116006957	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	40	pfam00047	NULL
3084	116006957	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05750	NULL
3084	116006957	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05895	NULL
3084	116006957	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	82	cd00096	NULL
3084	116006957	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	44_G	cd05728	NULL
3084	116006957	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	pfam07679	NULL
3084	116006957	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00409	NULL
3084	116006957	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00410	NULL
3084	116006957	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	43	cd05729	NULL
3084	116006957	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	smart00408	NULL
3084	116006957	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	84	pfam07686	NULL
3084	236461509	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	58	cd05750	NULL
3084	236461509	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	58	cd05895	NULL
3084	236461509	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	119	cd00096	NULL
3084	236461509	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	114	smart00408	NULL
3084	236461509	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	189	smart00409	NULL
3084	236461509	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	189	smart00410	NULL
3084	236461509	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	cd05729	NULL
3084	236461509	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	89	pfam07679	NULL
3084	236461509	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	cd05728	NULL
3084	236461509	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	106	pfam07686	NULL
3084	236461509	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	84	pfam00047	NULL
3084	7669518	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	No Domain	N/A	NULL
3084	116006959	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	40	pfam00047	NULL
3084	116006959	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05750	NULL
3084	116006959	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05895	NULL
3084	116006959	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	82	cd00096	NULL
3084	116006959	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	44_G	cd05728	NULL
3084	116006959	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	pfam07679	NULL
3084	116006959	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00409	NULL
3084	116006959	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00410	NULL
3084	116006959	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	43	cd05729	NULL
3084	116006959	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	smart00408	NULL
3084	116006959	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	84	pfam07686	NULL
3084	236464528	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	40	pfam00047	NULL
3084	236464528	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05750	NULL
3084	236464528	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	33	cd05895	NULL
3084	236464528	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	82	cd00096	NULL
3084	236464528	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	44_G	cd05728	NULL
3084	236464528	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	pfam07679	NULL
3084	236464528	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00409	NULL
3084	236464528	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	121	smart00410	NULL
3084	236464528	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	43	cd05729	NULL
3084	236464528	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	62	smart00408	NULL
3084	236464528	Disease	p.Gly85Glu	142640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142640	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY	OMIM	84	pfam07686	NULL
3739	4504817	Disease	p.Leu529Ser	142600.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142600	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY	OMIM	346	pfam00520	NULL
3739	4504817	Disease	p.Leu529Ser	142600.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142600	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY	OMIM	58	pfam07885	NULL
3339	126012571	Disease	p.Cys1532Tyr	142461.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142461	SCHWARTZ-JAMPEL SYNDROME, TYPE 1	OMIM	No Domain	N/A	NULL
6927	51338763	Disease	p.Pro447Leu	142410.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142410	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3	OMIM	212	pfam04812	256542297,NP_000536
6927	51338763	Disease	p.Tyr122Cys	142410.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142410	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3	OMIM	195	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Arg272His	142410.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142410	DIABETES MELLITUS, INSULIN-DEPENDENT, 20	OMIM	92	smart00389	256542297,NP_000536
6927	51338763	Disease	p.Arg272His	142410.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142410	DIABETES MELLITUS, INSULIN-DEPENDENT, 20	OMIM	84	cd00086	256542297,NP_000536
6927	51338763	Disease	p.Arg583Gly	142410.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142410	DIABETES MELLITUS, INSULIN-DEPENDENT, 20	OMIM	42	pfam04813	256542297,NP_000536
6927	51338763	Disease	p.Gly319Ser	142410.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142410	DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO	OMIM	48	pfam04812	256542297,NP_000536
6927	51338763	Disease	p.Thr620Ile	142410.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142410	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3	OMIM	81	pfam04813	256542297,NP_000536
6927	51338763	Disease	p.Ile27Leu	142410.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142410	INSULIN RESISTANCE, SUSCEPTIBILITY TO||SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF	OMIM	27	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Gly574Ser	142410.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142410	HEPATIC ADENOMA	OMIM	33	pfam04813	256542297,NP_000536
6927	51338763	Disease	p.Arg583Gln	142410.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142410	HEPATIC ADENOMA	OMIM	42	pfam04813	256542297,NP_000536
6927	51338763	Disease	p.Pro112Leu	142410.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142410	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3	OMIM	185	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Arg131Trp	142410.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142410	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3	OMIM	204	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Ala276Asp	142410.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142410	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3	OMIM	88	cd00086	256542297,NP_000536
6927	51338763	Disease	p.Ser531Thr	142410.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142410	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3	OMIM	306	pfam04812	256542297,NP_000536
3569	124347	Disease	p.Ser165Ser	142409.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142409	DEAFNESS, AUTOSOMAL RECESSIVE 39	OMIM	110	pfam00489	10834984,NP_000591
3569	124347	Disease	p.Ser165Ser	142409.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142409	DEAFNESS, AUTOSOMAL RECESSIVE 39	OMIM	112	smart00126	10834984,NP_000591
29915	62900381	Disease	p.Arg189His	142360.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142360	HEPARIN COFACTOR II DEFICIENCY	OMIM	No Domain	N/A	7019405,NP_037452
29915	62900381	Disease	p.Pro443Leu	142360.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142360	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO HEPARIN COFACTOR II DEFICIENCY	OMIM	No Domain	N/A	7019405,NP_037452
3048	56749861	Disease	p.Asp7Asn	142250.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (AUCKLAND)	OMIM	3	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Lys120Gln	142250.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (CALTECH)	OMIM	169	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Glu121Lys	142250.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (CARLTON)	OMIM	170	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Lys65Asn	142250.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (CLARKE)	OMIM	75	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Lys65Asn	142250.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (CLARKE)	OMIM	84	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Asp94Asn	142250.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (COLUMBUS-GA)	OMIM	110	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Asp94Asn	142250.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (COLUMBUS-GA)	OMIM	137	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Glu21Gln	142250.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (FUCHU)	OMIM	23	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Glu21Gln	142250.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (FUCHU)	OMIM	25	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Thr12Arg	142250.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (HEATHER)	OMIM	5	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Thr12Arg	142250.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (HEATHER)	OMIM	8	cd01040	6715607,NP_000175
3048	56749861	Disease	p.His77Arg	142250.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (KENNESTONE)	OMIM	87	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.His77Arg	142250.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (KENNESTONE)	OMIM	96	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Met55Arg	142250.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (KINGSTON)	OMIM	65	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Met55Arg	142250.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (KINGSTON)	OMIM	74	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Glu101Lys	142250.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (LA GRANGE)	OMIM	120	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Glu101Lys	142250.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (LA GRANGE)	OMIM	150	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Ser44Arg	142250.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (LODZ)	OMIM	53	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Ser44Arg	142250.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (LODZ)	OMIM	57	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Gly1Cys	142250.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (MALAYSIA)	OMIM	No Domain	N/A	6715607,NP_000175
3048	56749861	Disease	p.His117Arg	142250.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (MALTA)	OMIM	166	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Asp80Asn	142250.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (MARIETTA)	OMIM	95	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Asp80Asn	142250.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (MARIETTA)	OMIM	99	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Glu5Gly	142250.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (MEINOHAMA)	OMIM	No Domain	N/A	6715607,NP_000175
3048	56749861	Disease	p.Gly16Arg	142250.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (MELBOURNE)	OMIM	9	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Gly16Arg	142250.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (MELBOURNE)	OMIM	12	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Gly72Arg	142250.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (MINOO)	OMIM	82	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Gly72Arg	142250.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (MINOO)	OMIM	91	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Glu26Lys	142250.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (OAKLAND)	OMIM	28	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Glu26Lys	142250.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (OAKLAND)	OMIM	30	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Trp130Gly	142250.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (POOLE)	OMIM	196	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Glu125Ala	142250.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (PORT ROYAL)	OMIM	191	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Lys66Arg	142250.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (SHANGHAI)	OMIM	76	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Lys66Arg	142250.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (SHANGHAI)	OMIM	85	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Val34Ile	142250.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (TOKYO)	OMIM	36	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Val34Ile	142250.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (TOKYO)	OMIM	38	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Asp22Gly	142250.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (URUMQI)	OMIM	24	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Asp22Gly	142250.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (URUMQI)	OMIM	26	cd01040	6715607,NP_000175
3048	56749861	Disease	p.His63Tyr	142250.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN FM-OSAKA	OMIM	73	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.His63Tyr	142250.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN FM-OSAKA	OMIM	82	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Asp22Val	142250.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (GRANADA)	OMIM	24	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Asp22Val	142250.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (GRANADA)	OMIM	26	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Arg40Lys	142250.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (AUSTELL)	OMIM	49	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Arg40Lys	142250.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (AUSTELL)	OMIM	53	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Lys66Gln	142250.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (BROOKLYN)	OMIM	76	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Lys66Gln	142250.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (BROOKLYN)	OMIM	85	cd01040	6715607,NP_000175
3048	56749861	Disease	p.His146Tyr	142250.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (ONODA)	OMIM	No Domain	N/A	6715607,NP_000175
3048	56749861	Disease	p.His92Tyr	142250.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN FM (FORT RIPLEY)	OMIM	108	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.His92Tyr	142250.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN FM (FORT RIPLEY)	OMIM	135	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Trp15Arg	142250.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (CATALONIA)	OMIM	8	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Trp15Arg	142250.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (CATALONIA)	OMIM	11	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Gly25Glu	142250.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (COSENZA)	OMIM	27	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Gly25Glu	142250.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (COSENZA)	OMIM	29	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Lys59Gln	142250.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (SACROMONTE)	OMIM	69	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Lys59Gln	142250.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (SACROMONTE)	OMIM	78	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Ile75Thr	142250.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (WAYNESBORO)	OMIM	85	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Ile75Thr	142250.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (WAYNESBORO)	OMIM	94	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Lys104Asn	142250.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (MACEDONIA II)	OMIM	123	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Lys104Asn	142250.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (MACEDONIA II)	OMIM	153	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Phe41Ser	142250.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (CINCINNATI)	OMIM	50	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Phe41Ser	142250.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (CINCINNATI)	OMIM	54	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Lys59Glu	142250.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (EMIRATES)	OMIM	69	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Lys59Glu	142250.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (EMIRATES)	OMIM	78	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Lys59Gln	142250.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (SACROMONTE)	OMIM	69	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Lys59Gln	142250.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (SACROMONTE)	OMIM	78	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Arg40Gly	142250.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (VELETA)	OMIM	49	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Arg40Gly	142250.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (VELETA)	OMIM	53	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Ile75Thr	142250.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (LESVOS)	OMIM	85	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Ile75Thr	142250.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (LESVOS)	OMIM	94	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Phe118Leu	142250.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (CALABRIA)	OMIM	167	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Lys17Asn	142250.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (CLAMART)	OMIM	10	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Lys17Asn	142250.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (CLAMART)	OMIM	13	cd01040	6715607,NP_000175
3048	56749861	Disease	p.Asn19Lys	142250.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (OULED RABAH)	OMIM	13	pfam00042	6715607,NP_000175
3048	56749861	Disease	p.Asn19Lys	142250.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142250	HEMOGLOBIN F (OULED RABAH)	OMIM	15	cd01040	6715607,NP_000175
3047	28302131	Disease	p.Ile75Thr	142200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HBG1 POLYMORPHISM	OMIM	85	pfam00042	NULL
3047	28302131	Disease	p.Ile75Thr	142200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HBG1 POLYMORPHISM	OMIM	94	cd01040	NULL
3047	28302131	Disease	p.Ala128Thr	142200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (BASKENT)	OMIM	194	cd01040	NULL
3047	28302131	Disease	p.Ala53Asp	142200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (BEECH ISLAND)	OMIM	63	pfam00042	NULL
3047	28302131	Disease	p.Ala53Asp	142200.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (BEECH ISLAND)	OMIM	72	cd01040	NULL
3047	28302131	Disease	p.Gln39Arg	142200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (BONAIRE)	OMIM	48	pfam00042	NULL
3047	28302131	Disease	p.Gln39Arg	142200.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (BONAIRE)	OMIM	52	cd01040	NULL
3047	28302131	Disease	p.Thr12Arg	142200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (CALLUNA)	OMIM	5	pfam00042	NULL
3047	28302131	Disease	p.Thr12Arg	142200.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (CALLUNA)	OMIM	8	cd01040	NULL
3047	28302131	Disease	p.Trp37Gly	142200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (COBB)	OMIM	46	pfam00042	NULL
3047	28302131	Disease	p.Trp37Gly	142200.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (COBB)	OMIM	41	cd01040	NULL
3047	28302131	Disease	p.Asp79Asn	142200.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (DAMMAM)	OMIM	89	pfam00042	NULL
3047	28302131	Disease	p.Asp79Asn	142200.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (DAMMAM)	OMIM	98	cd01040	NULL
3047	28302131	Disease	p.His97Arg	142200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (DICKINSON)	OMIM	113	pfam00042	NULL
3047	28302131	Disease	p.His97Arg	142200.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (DICKINSON)	OMIM	140	cd01040	NULL
3047	28302131	Disease	p.Asp73Asn	142200.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (FOREST PARK)	OMIM	83	pfam00042	NULL
3047	28302131	Disease	p.Asp73Asn	142200.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (FOREST PARK)	OMIM	92	cd01040	NULL
3047	28302131	Disease	p.Asp43Asn	142200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (FUKUYAMA)	OMIM	52	pfam00042	NULL
3047	28302131	Disease	p.Asp43Asn	142200.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (FUKUYAMA)	OMIM	56	cd01040	NULL
3047	28302131	Disease	p.Gly72Arg	142200.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (IWATA)	OMIM	82	pfam00042	NULL
3047	28302131	Disease	p.Gly72Arg	142200.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (IWATA)	OMIM	91	cd01040	NULL
3047	28302131	Disease	p.Glu6Gly	142200.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (IZUMI)	OMIM	2	cd01040	NULL
3047	28302131	Disease	p.Lys61Glu	142200.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (JAMAICA)	OMIM	71	pfam00042	NULL
3047	28302131	Disease	p.Lys61Glu	142200.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (JAMAICA)	OMIM	80	cd01040	NULL
3047	28302131	Disease	p.Glu6Gly	142200.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (KOTOBUKI)	OMIM	2	cd01040	NULL
3047	28302131	Disease	p.Asp22Gly	142200.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (KUALA LUMPUR)	OMIM	24	pfam00042	NULL
3047	28302131	Disease	p.Asp22Gly	142200.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (KUALA LUMPUR)	OMIM	26	cd01040	NULL
3047	28302131	Disease	p.Pro36Arg	142200.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (PENDERGRASS)	OMIM	45	pfam00042	NULL
3047	28302131	Disease	p.Pro36Arg	142200.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (PENDERGRASS)	OMIM	40	cd01040	NULL
3047	28302131	Disease	p.Glu6Gln	142200.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (PORDENONE)	OMIM	2	cd01040	NULL
3047	28302131	Disease	p.Ile75Thr	142200.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (SARDINIA)	OMIM	85	pfam00042	NULL
3047	28302131	Disease	p.Ile75Thr	142200.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (SARDINIA)	OMIM	94	cd01040	NULL
3047	28302131	Disease	p.Glu121Lys	142200.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (SIENA)||HEMOGLOBIN F (HULL)	OMIM	170	cd01040	NULL
3047	28302131	Disease	p.Glu5Lys	142200.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (TEXAS I)	OMIM	No Domain	N/A	NULL
3047	28302131	Disease	p.Asp80Tyr	142200.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (VICTORIA JUBILEE)	OMIM	95	pfam00042	NULL
3047	28302131	Disease	p.Asp80Tyr	142200.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (VICTORIA JUBILEE)	OMIM	99	cd01040	NULL
3047	28302131	Disease	p.Gly25Arg	142200.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (XINJIANG)	OMIM	27	pfam00042	NULL
3047	28302131	Disease	p.Gly25Arg	142200.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (XINJIANG)	OMIM	29	cd01040	NULL
3047	28302131	Disease	p.Asp73His	142200.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (XIN-SU)	OMIM	83	pfam00042	NULL
3047	28302131	Disease	p.Asp73His	142200.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (XIN-SU)	OMIM	92	cd01040	NULL
3047	28302131	Disease	p.Asp80Asn	142200.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (YAMAGUCHI)	OMIM	95	pfam00042	NULL
3047	28302131	Disease	p.Asp80Asn	142200.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (YAMAGUCHI)	OMIM	99	cd01040	NULL
3047	28302131	Disease	p.Val134Met	142200.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (JIANGSU)	OMIM	200	cd01040	NULL
3047	28302131	Disease	p.Ile75Thr	142200.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (CHARLOTTE)	OMIM	85	pfam00042	NULL
3047	28302131	Disease	p.Ile75Thr	142200.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (CHARLOTTE)	OMIM	94	cd01040	NULL
3047	28302131	Disease	p.Arg40Lys	142200.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (WOODSTOCK)	OMIM	49	pfam00042	NULL
3047	28302131	Disease	p.Arg40Lys	142200.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (WOODSTOCK)	OMIM	53	cd01040	NULL
3047	28302131	Disease	p.His2Gln	142200.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (MACEDONIA-I)	OMIM	No Domain	N/A	NULL
3047	28302131	Disease	p.Ile75Thr	142200.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (PORTO TORRES)	OMIM	85	pfam00042	NULL
3047	28302131	Disease	p.Ile75Thr	142200.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142200	HEMOGLOBIN F (PORTO TORRES)	OMIM	94	cd01040	NULL
3045	122713	Disease	p.Gly16Arg	142000.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2)-PRIME||HEMOGLOBIN B(2)	OMIM	9	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Gly16Arg	142000.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2)-PRIME||HEMOGLOBIN B(2)	OMIM	12	cd01040	4504351,NP_000510
3045	122713	Disease	p.Pro51Arg	142000.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) ADRIA	OMIM	61	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Pro51Arg	142000.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) ADRIA	OMIM	64	cd01040	4504351,NP_000510
3045	122713	Disease	p.Gly136Asp	142000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) BABINGA	OMIM	202	cd01040	4504351,NP_000510
3045	122713	Disease	p.Asp99Asn	142000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) CANADA	OMIM	118	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Asp99Asn	142000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) CANADA	OMIM	142	cd01040	4504351,NP_000510
3045	122713	Disease	p.Arg116His	142000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) COBURG	OMIM	165	cd01040	4504351,NP_000510
3045	122713	Disease	p.Ala142Asp	142000.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) FITZROY	OMIM	No Domain	N/A	4504351,NP_000510
3045	122713	Disease	p.Ala22Glu	142000.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) FLATBUSH||HEMOGLOBIN FLATBUSH (GEORGIA)	OMIM	24	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Ala22Glu	142000.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) FLATBUSH||HEMOGLOBIN FLATBUSH (GEORGIA)	OMIM	26	cd01040	4504351,NP_000510
3045	122713	Disease	p.Glu90Val	142000.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) HONAI	OMIM	106	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Glu90Val	142000.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) HONAI	OMIM	133	cd01040	4504351,NP_000510
3045	122713	Disease	p.Gly69Arg	142000.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) INDONESIA	OMIM	79	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Gly69Arg	142000.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) INDONESIA	OMIM	88	cd01040	4504351,NP_000510
3045	122713	Disease	p.Glu121Val	142000.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) MANZANARES	OMIM	170	cd01040	4504351,NP_000510
3045	122713	Disease	p.Glu43Lys	142000.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) MELBOURNE	OMIM	52	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Glu43Lys	142000.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) MELBOURNE	OMIM	56	cd01040	4504351,NP_000510
3045	122713	Disease	p.Asn12Lys	142000.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) NYU||HEMOGLOBIN NYU	OMIM	5	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Asn12Lys	142000.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) NYU||HEMOGLOBIN NYU	OMIM	8	cd01040	4504351,NP_000510
3045	122713	Disease	p.Val20Glu	142000.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) ROOSEVELT	OMIM	22	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Val20Glu	142000.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) ROOSEVELT	OMIM	24	cd01040	4504351,NP_000510
3045	122713	Disease	p.His2Arg	142000.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) SPHAKIA	OMIM	No Domain	N/A	4504351,NP_000510
3045	122713	Disease	p.Gly24Asp	142000.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) VICTORIA	OMIM	26	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Gly24Asp	142000.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) VICTORIA	OMIM	28	cd01040	4504351,NP_000510
3045	122713	Disease	p.Val98Met	142000.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) WRENS	OMIM	114	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Val98Met	142000.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) WRENS	OMIM	141	cd01040	4504351,NP_000510
3045	122713	Disease	p.Gly25Asp	142000.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) YOKOSHIMA	OMIM	27	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Gly25Asp	142000.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) YOKOSHIMA	OMIM	29	cd01040	4504351,NP_000510
3045	122713	Disease	p.Gln125Glu	142000.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) ZAGREB	OMIM	191	cd01040	4504351,NP_000510
3045	122713	Disease	p.Arg116Cys	142000.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) CORFU||HEMOGLOBIN A(2) TROODOS	OMIM	165	cd01040	4504351,NP_000510
3045	122713	Disease	p.Asp47Val	142000.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) PARKVILLE	OMIM	56	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Asp47Val	142000.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) PARKVILLE	OMIM	60	cd01040	4504351,NP_000510
3045	122713	Disease	p.Val1Ala	142000.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) NIIGATA	OMIM	No Domain	N/A	4504351,NP_000510
3045	122713	Disease	p.Ala27Ser	142000.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	DELTA-THALASSEMIA||HEMOGLOBIN A(2) YIALOUSA	OMIM	29	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Ala27Ser	142000.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	DELTA-THALASSEMIA||HEMOGLOBIN A(2) YIALOUSA	OMIM	31	cd01040	4504351,NP_000510
3045	122713	Disease	p.Arg30Thr	142000.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	DELTA-THALASSEMIA	OMIM	32	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Arg30Thr	142000.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	DELTA-THALASSEMIA	OMIM	34	cd01040	4504351,NP_000510
3045	122713	Disease	p.Leu141Pro	142000.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) PELENDRI	OMIM	207	cd01040	4504351,NP_000510
3045	122713	Disease	p.Leu75Val	142000.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	DELTA-THALASSEMIA||HEMOGLOBIN A(2) GROVETOWN	OMIM	85	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Leu75Val	142000.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	DELTA-THALASSEMIA||HEMOGLOBIN A(2) GROVETOWN	OMIM	94	cd01040	4504351,NP_000510
3045	122713	Disease	p.Glu26Asp	142000.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) PUGLIA	OMIM	28	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Glu26Asp	142000.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) PUGLIA	OMIM	30	cd01040	4504351,NP_000510
3045	122713	Disease	p.Cys93Gly	142000.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) SANT' ANTIOCO	OMIM	109	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Cys93Gly	142000.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) SANT' ANTIOCO	OMIM	136	cd01040	4504351,NP_000510
3045	122713	Disease	p.Glu43Gly	142000.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) AGRINIO	OMIM	52	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Glu43Gly	142000.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) AGRINIO	OMIM	56	cd01040	4504351,NP_000510
3045	122713	Disease	p.His146Arg	142000.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) MONREALE	OMIM	No Domain	N/A	4504351,NP_000510
3045	122713	Disease	p.Pro37His	142000.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) METAPONTO	OMIM	46	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Pro37His	142000.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) METAPONTO	OMIM	41	cd01040	4504351,NP_000510
3045	122713	Disease	p.Asn58Lys	142000.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) CAMPANIA	OMIM	68	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Asn58Lys	142000.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) CAMPANIA	OMIM	77	cd01040	4504351,NP_000510
3045	122713	Disease	p.Leu89Val	142000.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) LUCANIA	OMIM	105	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Leu89Val	142000.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) LUCANIA	OMIM	132	cd01040	4504351,NP_000510
3045	122713	Disease	p.Arg105Ser	142000.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) CAPRI	OMIM	124	pfam00042	4504351,NP_000510
3045	122713	Disease	p.Arg105Ser	142000.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) CAPRI	OMIM	154	cd01040	4504351,NP_000510
3045	122713	Disease	p.Val133Ala	142000.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142000	HEMOGLOBIN A(2) NINIVE	OMIM	199	cd01040	4504351,NP_000510
3043	56749856	Disease	p.Gly74Arg	141900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN AALBORG	OMIM	84	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly74Arg	141900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN AALBORG	OMIM	93	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His143Arg	141900.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ABRUZZO	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Glu90Lys	141900.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN AGENOGI	OMIM	106	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Glu90Lys	141900.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN AGENOGI	OMIM	133	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gln39Lys	141900.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ALABAMA	OMIM	48	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gln39Lys	141900.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ALABAMA	OMIM	52	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asn19Asp	141900.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ALAMO	OMIM	13	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asn19Asp	141900.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ALAMO	OMIM	15	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu101Gly	141900.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ALBERTA	OMIM	120	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Glu101Gly	141900.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ALBERTA	OMIM	150	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala135Pro	141900.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ALTDORF	OMIM	201	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys144Asn	141900.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ANDREW-MINNEAPOLIS	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Ala10Asp	141900.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ANKARA	OMIM	3	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ala10Asp	141900.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ANKARA	OMIM	6	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu6Lys	141900.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ARLINGTON PARK	OMIM	2	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Arg40Lys	141900.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ATHENS-GEORGIA||HEMOGLOBIN WACO	OMIM	49	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Arg40Lys	141900.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ATHENS-GEORGIA||HEMOGLOBIN WACO	OMIM	53	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu75Pro	141900.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ATLANTA	OMIM	85	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu75Pro	141900.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ATLANTA	OMIM	94	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu75Pro	141900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ATLANTA-COVENTRY	OMIM	85	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu75Pro	141900.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ATLANTA-COVENTRY	OMIM	94	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Arg40Ser	141900.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN AUSTIN	OMIM	49	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Arg40Ser	141900.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN AUSTIN	OMIM	53	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp47Ala	141900.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN AVICENNA	OMIM	56	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp47Ala	141900.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN AVICENNA	OMIM	60	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp94His	141900.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BARCELONA	OMIM	110	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp94His	141900.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BARCELONA	OMIM	137	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu81Arg	141900.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BAYLOR	OMIM	97	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu81Arg	141900.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BAYLOR	OMIM	100	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val126Ala	141900.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BEIRUT	OMIM	192	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Trp15Arg	141900.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BELFAST	OMIM	8	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Trp15Arg	141900.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BELFAST	OMIM	11	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu121Val	141900.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BEOGRAD||HEMOGLOBIN D (CAMPERDOWN)	OMIM	170	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asn102Ser	141900.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BETH ISRAEL	OMIM	121	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asn102Ser	141900.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BETH ISRAEL	OMIM	151	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Tyr145His	141900.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BETHESDA	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.His63Pro	141900.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BICETRE	OMIM	73	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.His63Pro	141900.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BICETRE	OMIM	82	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys61Met	141900.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BOLOGNA	OMIM	71	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys61Met	141900.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BOLOGNA	OMIM	80	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu88Arg	141900.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BORAS	OMIM	104	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu88Arg	141900.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BORAS	OMIM	131	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly119Val	141900.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BOUGARDIREY-MALI	OMIM	168	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gln127Lys	141900.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BREST	OMIM	193	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Pro100Leu	141900.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BRIGHAM	OMIM	119	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Pro100Leu	141900.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BRIGHAM	OMIM	149	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu68His	141900.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BRISBANE||HEMOGLOBIN GREAT LAKES	OMIM	78	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu68His	141900.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BRISBANE||HEMOGLOBIN GREAT LAKES	OMIM	87	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val67Met	141900.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BRISTOL	OMIM	77	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val67Met	141900.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BRISTOL	OMIM	86	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu101Lys	141900.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BRITISH COLUMBIA	OMIM	120	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Glu101Lys	141900.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BRITISH COLUMBIA	OMIM	150	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala138Pro	141900.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BROCKTON	OMIM	204	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Phe85Ser	141900.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BRYN MAWR||HEMOGLOBIN BUENOS AIRES	OMIM	101	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Phe85Ser	141900.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BRYN MAWR||HEMOGLOBIN BUENOS AIRES	OMIM	128	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp94Asn	141900.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BUNBURY	OMIM	110	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp94Asn	141900.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BUNBURY	OMIM	137	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly107Arg	141900.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BURKE	OMIM	126	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly107Arg	141900.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BURKE	OMIM	156	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly74Val	141900.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BUSHWICK	OMIM	84	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly74Val	141900.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BUSHWICK	OMIM	93	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu6Lys	141900.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN C||MALARIA, RESISTANCE TO	OMIM	2	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu6Val	141900.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN C (GEORGETOWN)||HEMOGLOBIN C (HARLEM)	OMIM	2	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu6Val	141900.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN C (ZIGUINCHOR)||HEMOGLOBIN ZIGUINCHOR	OMIM	2	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gln131Glu	141900.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CAMDEN||HEMOGLOBIN MOTOWN, HEMOGLOBIN TOKUCHI	OMIM	197	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Arg104Ser	141900.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CAMPERDOWN	OMIM	123	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Arg104Ser	141900.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CAMPERDOWN	OMIM	153	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu91Arg	141900.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CARIBBEAN	OMIM	107	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu91Arg	141900.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CARIBBEAN	OMIM	134	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu32Arg	141900.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CASTILLA	OMIM	34	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu32Arg	141900.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CASTILLA	OMIM	36	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp94Gly	141900.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CHANDIGARH	OMIM	110	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp94Gly	141900.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CHANDIGARH	OMIM	137	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp99Val	141900.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CHEMILLY	OMIM	118	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp99Val	141900.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CHEMILLY	OMIM	142	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Phe45Ser	141900.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CHEVERLY	OMIM	54	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Phe45Ser	141900.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CHEVERLY	OMIM	58	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys66Thr	141900.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CHICO	OMIM	76	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys66Thr	141900.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CHICO	OMIM	85	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Phe71Ser	141900.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CHRISTCHURCH	OMIM	81	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Phe71Ser	141900.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CHRISTCHURCH	OMIM	90	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly69Ser	141900.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CITY OF HOPE	OMIM	79	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly69Ser	141900.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CITY OF HOPE	OMIM	88	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His146Arg	141900.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN COCHIN-PORT ROYAL	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Asp21Asn	141900.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN COCODY	OMIM	23	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp21Asn	141900.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN COCODY	OMIM	25	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val60Ala	141900.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN COLLINGWOOD	OMIM	70	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val60Ala	141900.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN COLLINGWOOD	OMIM	79	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp21Gly	141900.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CONNECTICUT	OMIM	23	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp21Gly	141900.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CONNECTICUT	OMIM	25	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His146Leu	141900.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN COWTOWN	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Ala129Pro	141900.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CRETE	OMIM	195	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ser89Asn	141900.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CRETEIL	OMIM	105	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ser89Asn	141900.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CRETEIL	OMIM	132	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly16Arg	141900.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN D (BUSHMAN)	OMIM	9	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly16Arg	141900.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN D (BUSHMAN)	OMIM	12	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu22Val	141900.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN D (GRANADA)	OMIM	24	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Glu22Val	141900.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN D (GRANADA)	OMIM	26	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Thr87Lys	141900.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN D (IBADAN)	OMIM	103	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Thr87Lys	141900.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN D (IBADAN)	OMIM	130	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu22Gln	141900.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN D (IRAN)	OMIM	24	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Glu22Gln	141900.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN D (IRAN)	OMIM	26	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asn19Lys	141900.0064	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN D (OULED RABAH)	OMIM	13	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asn19Lys	141900.0064	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN D (OULED RABAH)	OMIM	15	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu121Gln	141900.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN D (PUNJAB)||HEMOGLOBIN D (CHICAGO), HEMOGLOBIN D (LOS ANGELES), HEMOGLOBIN D (NORTH CAROLINA), HEMOGLOBIN D (PORTUGAL), HEMOGLOBIN OAK RIDGE	OMIM	170	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His2Arg	141900.0066	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN DEER LODGE	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Lys95Asn	141900.0067	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN DETROIT	OMIM	111	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys95Asn	141900.0067	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN DETROIT	OMIM	138	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val98Ala	141900.0068	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN DJELFA	OMIM	114	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val98Ala	141900.0068	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN DJELFA	OMIM	141	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val1Glu	141900.0069	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN DOHA	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Ala62Pro	141900.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN DUARTE	OMIM	72	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ala62Pro	141900.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN DUARTE	OMIM	81	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu26Lys	141900.0071	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN E||BETA-PLUS-THALASSEMIA, BETA-E-THALASSEMIA, MALARIA, RESISTANCE TO	OMIM	28	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Glu26Lys	141900.0071	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN E||BETA-PLUS-THALASSEMIA, BETA-E-THALASSEMIA, MALARIA, RESISTANCE TO	OMIM	30	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu22Lys	141900.0072	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN E (SASKATOON)	OMIM	24	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Glu22Lys	141900.0072	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN E (SASKATOON)	OMIM	26	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Thr50Lys	141900.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN EDMONTON	OMIM	60	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Thr50Lys	141900.0073	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN EDMONTON	OMIM	63	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val133Leu	141900.0074	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN EXTREMADURA	OMIM	199	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val111Leu	141900.0075	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN FANNIN-LUBBOCK	OMIM	130	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val111Leu	141900.0075	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN FANNIN-LUBBOCK	OMIM	160	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His2Tyr	141900.0077	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN FUKUOKA	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.His77Tyr	141900.0078	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN FUKUYAMA	OMIM	87	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.His77Tyr	141900.0078	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN FUKUYAMA	OMIM	96	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp79Asn	141900.0079	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN G (ACCRA)	OMIM	89	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp79Asn	141900.0079	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN G (ACCRA)	OMIM	98	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp47Asn	141900.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN G (COPENHAGEN)	OMIM	56	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp47Asn	141900.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN G (COPENHAGEN)	OMIM	60	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu22Ala	141900.0081	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN G (COUSHATTA)||HEMOGLOBIN G (SASKATOON), HEMOGLOBIN G (HSIN-CHU), HEMOGLOBIN G (TAEGU)	OMIM	24	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Glu22Ala	141900.0081	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN G (COUSHATTA)||HEMOGLOBIN G (SASKATOON), HEMOGLOBIN G (HSIN-CHU), HEMOGLOBIN G (TAEGU)	OMIM	26	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asn57Lys	141900.0082	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN G (FERRARA)	OMIM	67	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asn57Lys	141900.0082	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN G (FERRARA)	OMIM	76	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu43Ala	141900.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN G (GALVESTON)||HEMOGLOBIN G (PORT ARTHUR), HEMOGLOBIN G (TEXAS)	OMIM	52	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Glu43Ala	141900.0083	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN G (GALVESTON)||HEMOGLOBIN G (PORT ARTHUR), HEMOGLOBIN G (TEXAS)	OMIM	56	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp79Gly	141900.0084	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN G (HSI-TSOU)	OMIM	89	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp79Gly	141900.0084	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN G (HSI-TSOU)	OMIM	98	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu6Ala	141900.0085	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN G (MAKASSAR)	OMIM	2	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu7Gly	141900.0086	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN G (SAN JOSE)	OMIM	3	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asn80Lys	141900.0087	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN G (SZUHU)||HEMOGLOBIN GIFU	OMIM	95	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asn80Lys	141900.0087	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN G (SZUHU)||HEMOGLOBIN GIFU	OMIM	99	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu22Gly	141900.0088	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN G (TAIPEI)	OMIM	24	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Glu22Gly	141900.0088	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN G (TAIPEI)	OMIM	26	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly25Arg	141900.0089	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN G (TAIWAN-AMI)	OMIM	27	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly25Arg	141900.0089	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN G (TAIWAN-AMI)	OMIM	29	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly46Arg	141900.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN GAINESVILLE-GA	OMIM	55	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly46Arg	141900.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN GAINESVILLE-GA	OMIM	59	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp47Gly	141900.0091	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN GAVELLO	OMIM	56	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp47Gly	141900.0091	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN GAVELLO	OMIM	60	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asn139Asp	141900.0092	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN GEELONG||HEMOGLOBIN JINAN	OMIM	205	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu28Pro	141900.0093	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN GENOVA||HEMOGLOBIN HYOGO	OMIM	30	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu28Pro	141900.0093	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN GENOVA||HEMOGLOBIN HYOGO	OMIM	32	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala27Val	141900.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN GRANGE-BLANCHE	OMIM	29	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ala27Val	141900.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN GRANGE-BLANCHE	OMIM	31	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gln127Glu	141900.0096	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HACETTEPE||HEMOGLOBIN COMPLUTENSE	OMIM	193	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His116Gln	141900.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HAFNIA	OMIM	165	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly56Arg	141900.0098	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HAMADAN	OMIM	66	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly56Arg	141900.0098	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HAMADAN	OMIM	75	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val11Ile	141900.0099	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HAMILTON	OMIM	4	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val11Ile	141900.0099	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HAMILTON	OMIM	7	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Phe42Ser	141900.0100	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HAMMERSMITH||HEMOGLOBIN CHIBA, HEINZ BODY HEMOLYTIC ANEMIA	OMIM	51	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Phe42Ser	141900.0100	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HAMMERSMITH||HEMOGLOBIN CHIBA, HEINZ BODY HEMOLYTIC ANEMIA	OMIM	55	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Thr38Pro	141900.0101	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HAZEBROUCK	OMIM	47	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Thr38Pro	141900.0101	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HAZEBROUCK	OMIM	51	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Phe103Leu	141900.0102	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HEATHROW	OMIM	122	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Phe103Leu	141900.0102	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HEATHROW	OMIM	152	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys82Met	141900.0103	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HELSINKI	OMIM	98	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys82Met	141900.0103	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HELSINKI	OMIM	101	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu26Val	141900.0104	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HENRI MONDOR	OMIM	28	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Glu26Val	141900.0104	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HENRI MONDOR	OMIM	30	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys120Glu	141900.0105	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HIJIYAMA	OMIM	169	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys61Asn	141900.0106	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HIKARI	OMIM	71	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys61Asn	141900.0106	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HIKARI	OMIM	80	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala140Asp	141900.0107	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HIMEJI	OMIM	206	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asn139Lys	141900.0108	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HINSDALE	OMIM	205	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Trp37Ser	141900.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HIROSE	OMIM	46	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Trp37Ser	141900.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HIROSE	OMIM	41	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His146Asp	141900.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HIROSHIMA	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Val126Glu	141900.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HOFU	OMIM	192	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly136Asp	141900.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HOPE	OMIM	202	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu43Gln	141900.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HOSHIDA||HEMOGLOBIN CHAYA	OMIM	52	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Glu43Gln	141900.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HOSHIDA||HEMOGLOBIN CHAYA	OMIM	56	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp99Gly	141900.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HOTEL-DIEU	OMIM	118	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp99Gly	141900.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HOTEL-DIEU	OMIM	142	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys59Glu	141900.0115	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN I (HIGH WYCOMBE)	OMIM	69	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys59Glu	141900.0115	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN I (HIGH WYCOMBE)	OMIM	78	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys66Glu	141900.0116	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN I (TOULOUSE)||HEMOGLOBIN TOULOUSE	OMIM	76	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys66Glu	141900.0116	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN I (TOULOUSE)||HEMOGLOBIN TOULOUSE	OMIM	85	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Cys112Arg	141900.0117	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN INDIANAPOLIS||HEINZ BODY HEMOLYTIC ANEMIA	OMIM	161	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His92Gln	141900.0118	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ISTANBUL||HEMOGLOBIN SAINT ETIENNE	OMIM	108	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.His92Gln	141900.0118	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ISTANBUL||HEMOGLOBIN SAINT ETIENNE	OMIM	135	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His92Asp	141900.0119	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (ALTGELD GARDENS)	OMIM	108	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.His92Asp	141900.0119	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (ALTGELD GARDENS)	OMIM	135	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys17Asn	141900.0120	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (AMIENS)	OMIM	10	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys17Asn	141900.0120	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (AMIENS)	OMIM	13	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys65Met	141900.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (ANTAKYA)	OMIM	75	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys65Met	141900.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (ANTAKYA)	OMIM	84	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly25Asp	141900.0122	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (AUCKLAND)	OMIM	27	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly25Asp	141900.0122	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (AUCKLAND)	OMIM	29	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly16Asp	141900.0123	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (BALTIMORE)||HEMOGLOBIN J (IRELAND), HEMOGLOBIN J (TRINIDAD), HEMOGLOBIN J (GEORGIA), HEMOGLOBIN N (NEW HAVEN 2)	OMIM	9	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly16Asp	141900.0123	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (BALTIMORE)||HEMOGLOBIN J (IRELAND), HEMOGLOBIN J (TRINIDAD), HEMOGLOBIN J (GEORGIA), HEMOGLOBIN N (NEW HAVEN 2)	OMIM	12	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly56Asp	141900.0124	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (BANGKOK)||HEMOGLOBIN J (KORAT), HEMOGLOBIN J (MANADO), HEMOGLOBIN J (MEINUNG)	OMIM	66	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly56Asp	141900.0124	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (BANGKOK)||HEMOGLOBIN J (KORAT), HEMOGLOBIN J (MANADO), HEMOGLOBIN J (MEINUNG)	OMIM	75	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys65Gln	141900.0125	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (CAIRO)	OMIM	75	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys65Gln	141900.0125	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (CAIRO)	OMIM	84	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly64Asp	141900.0126	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (CALABRIA)||HEMOGLOBIN J (COSENZA), HEMOGLOBIN J (BARI)	OMIM	74	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly64Asp	141900.0126	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (CALABRIA)||HEMOGLOBIN J (COSENZA), HEMOGLOBIN J (BARI)	OMIM	83	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala76Asp	141900.0127	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (CHICAGO)	OMIM	86	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ala76Asp	141900.0127	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (CHICAGO)	OMIM	95	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys95Met	141900.0128	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (CORDOBA)	OMIM	111	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys95Met	141900.0128	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (CORDOBA)	OMIM	138	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asn57Asp	141900.0129	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (DALOA)	OMIM	67	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asn57Asp	141900.0129	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (DALOA)	OMIM	76	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala128Asp	141900.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (GUANTANAMO)	OMIM	194	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His77Asp	141900.0131	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (IRAN)	OMIM	87	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.His77Asp	141900.0131	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (IRAN)	OMIM	96	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys59Thr	141900.0132	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (KAOHSIUNG)||HEMOGLOBIN J (HONOLULU)	OMIM	69	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys59Thr	141900.0132	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (KAOHSIUNG)||HEMOGLOBIN J (HONOLULU)	OMIM	78	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala13Asp	141900.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (LENS)	OMIM	6	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ala13Asp	141900.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (LENS)	OMIM	9	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys59Asn	141900.0134	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (LOME)	OMIM	69	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys59Asn	141900.0134	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (LOME)	OMIM	78	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys8Gln	141900.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (LUHE)	OMIM	4	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly69Asp	141900.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (RAMBAM)||HEMOGLOBIN J (CAMBRIDGE)	OMIM	79	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly69Asp	141900.0136	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (RAMBAM)||HEMOGLOBIN J (CAMBRIDGE)	OMIM	88	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys65Asn	141900.0137	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (SICILIA)	OMIM	75	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys65Asn	141900.0137	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (SICILIA)	OMIM	84	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala129Asp	141900.0138	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (TAICHUNG)	OMIM	195	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys120Ile	141900.0139	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN JIANGHUA	OMIM	169	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val109Leu	141900.0140	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN JOHNSTOWN	OMIM	128	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val109Leu	141900.0140	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN JOHNSTOWN	OMIM	158	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala129Glu	141900.0141	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN K (CAMEROON)	OMIM	195	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly46Glu	141900.0142	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN K (IBADAN)	OMIM	55	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly46Glu	141900.0142	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN K (IBADAN)	OMIM	59	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys132Gln	141900.0143	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN K (WOOLWICH)	OMIM	198	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Arg30Thr	141900.0144	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KAIROUAN||HEMOGLOBIN MONROE	OMIM	32	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Arg30Thr	141900.0144	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KAIROUAN||HEMOGLOBIN MONROE	OMIM	34	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asn102Thr	141900.0145	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KANSAS||HEMOGLOBIN REISSMANN ET AL.	OMIM	121	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asn102Thr	141900.0145	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KANSAS||HEMOGLOBIN REISSMANN ET AL.	OMIM	151	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp99Asn	141900.0146	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KEMPSEY	OMIM	118	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp99Asn	141900.0146	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KEMPSEY	OMIM	142	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly69Arg	141900.0147	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KENITRA	OMIM	79	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly69Arg	141900.0147	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KENITRA	OMIM	88	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Pro124Arg	141900.0148	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KHARTOUM	OMIM	190	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala27Ser	141900.0149	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KNOSSOS||BETA-PLUS-THALASSEMIA, BETA-KNOSSOS-THALASSEMIA	OMIM	29	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ala27Ser	141900.0149	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KNOSSOS||BETA-PLUS-THALASSEMIA, BETA-KNOSSOS-THALASSEMIA	OMIM	31	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Thr84Ile	141900.0150	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KOFU	OMIM	100	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Thr84Ile	141900.0150	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KOFU	OMIM	127	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val98Met	141900.0151	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KOLN||HEMOGLOBIN UBE-1, HEMOGLOBIN SAN FRANCISCO (PACIFIC), HEINZ BODY HEMOLYTIC ANEMIA	OMIM	114	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val98Met	141900.0151	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KOLN||HEMOGLOBIN UBE-1, HEMOGLOBIN SAN FRANCISCO (PACIFIC), HEINZ BODY HEMOLYTIC ANEMIA	OMIM	141	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp73Asn	141900.0153	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KORLE-BU	OMIM	83	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp73Asn	141900.0153	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KORLE-BU	OMIM	92	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala129Val	141900.0154	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN LA DESIRADE	OMIM	195	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ser49Phe	141900.0155	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN LAS PALMAS	OMIM	59	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ser49Phe	141900.0155	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN LAS PALMAS	OMIM	62	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Pro36Thr	141900.0158	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN LINKOPING||HEMOGLOBIN MEILAHTI	OMIM	45	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Pro36Thr	141900.0158	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN LINKOPING||HEMOGLOBIN MEILAHTI	OMIM	40	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His143Gln	141900.0159	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN LITTLE ROCK	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Phe42Leu	141900.0160	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN LOUISVILLE||HEMOGLOBIN BUCURESTI	OMIM	51	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Phe42Leu	141900.0160	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN LOUISVILLE||HEMOGLOBIN BUCURESTI	OMIM	55	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly29Asp	141900.0161	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN LUFKIN	OMIM	31	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly29Asp	141900.0161	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN LUFKIN	OMIM	33	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val67Glu	141900.0163	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN M (MILWAUKEE 1)	OMIM	77	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val67Glu	141900.0163	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN M (MILWAUKEE 1)	OMIM	86	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His92Tyr	141900.0164	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN M (MILWAUKEE 2)||HEMOGLOBIN M (HYDE PARK), HEMOGLOBIN M (AKITA)	OMIM	108	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.His92Tyr	141900.0164	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN M (MILWAUKEE 2)||HEMOGLOBIN M (HYDE PARK), HEMOGLOBIN M (AKITA)	OMIM	135	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His63Tyr	141900.0165	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN M (SASKATOON)||HEMOGLOBIN M (ARHUS), HEMOGLOBIN M (CHICAGO), HEMOGLOBIN M (EMORY), HEMOGLOBIN M (ERLANGEN), HEMOGLOBIN M (HAMBURG), HEMOGLOBIN M (HIDA), HEMOGLOBIN M (HORLEIN-WEBER), HEMOGLOBIN M (KURUME), HEMOGLOBIN M (LEIPZIG), HEMOGLOBIN M (NOVI SAD), HEMOGLOBIN M (RADOM)	OMIM	73	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.His63Tyr	141900.0165	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN M (SASKATOON)||HEMOGLOBIN M (ARHUS), HEMOGLOBIN M (CHICAGO), HEMOGLOBIN M (EMORY), HEMOGLOBIN M (ERLANGEN), HEMOGLOBIN M (HAMBURG), HEMOGLOBIN M (HIDA), HEMOGLOBIN M (HORLEIN-WEBER), HEMOGLOBIN M (KURUME), HEMOGLOBIN M (LEIPZIG), HEMOGLOBIN M (NOVI SAD), HEMOGLOBIN M (RADOM)	OMIM	82	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu6Gln	141900.0166	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MACHIDA	OMIM	2	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala115Pro	141900.0167	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MADRID	OMIM	164	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asn19Ser	141900.0168	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MALAY||BETA-PLUS-THALASSEMIA, BETA-MALAY-THALASSEMIA	OMIM	13	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asn19Ser	141900.0168	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MALAY||BETA-PLUS-THALASSEMIA, BETA-MALAY-THALASSEMIA	OMIM	15	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His97Gln	141900.0169	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MALMO	OMIM	113	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.His97Gln	141900.0169	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MALMO	OMIM	140	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp47Tyr	141900.0170	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MAPUTO	OMIM	56	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp47Tyr	141900.0170	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MAPUTO	OMIM	60	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His2Pro	141900.0171	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MARSEILLE||HEMOGLOBIN LONG ISLAND	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Leu114Met	141900.0172	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MASUDA	OMIM	163	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Met55Lys	141900.0173	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MATERA	OMIM	65	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Met55Lys	141900.0173	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MATERA	OMIM	74	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Phe41Tyr	141900.0174	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MEQUON	OMIM	50	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Phe41Tyr	141900.0174	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MEQUON	OMIM	54	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Phe118Tyr	141900.0176	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MINNEAPOLIS-LAOS	OMIM	167	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ser44Cys	141900.0177	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MISSISSIPPI||HEMOGLOBIN MS	OMIM	53	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ser44Cys	141900.0177	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MISSISSIPPI||HEMOGLOBIN MS	OMIM	57	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys144Glu	141900.0178	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MITO	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Val23Gly	141900.0180	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MIYASHIRO	OMIM	25	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val23Gly	141900.0180	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MIYASHIRO	OMIM	27	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu68Pro	141900.0181	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MIZUHO	OMIM	78	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu68Pro	141900.0181	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MIZUHO	OMIM	87	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Phe83Ser	141900.0182	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MIZUNAMI	OMIM	99	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Phe83Ser	141900.0182	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MIZUNAMI	OMIM	126	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp73Val	141900.0183	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MOBILE	OMIM	83	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp73Val	141900.0183	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MOBILE	OMIM	92	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His97Tyr	141900.0184	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MORIGUCHI	OMIM	113	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.His97Tyr	141900.0184	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MORIGUCHI	OMIM	140	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly24Asp	141900.0185	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MOSCVA	OMIM	26	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly24Asp	141900.0185	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MOSCVA	OMIM	28	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His92Arg	141900.0186	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MOZHAISK	OMIM	108	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.His92Arg	141900.0186	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MOZHAISK	OMIM	135	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys95Asp	141900.0187	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN N, BETA TYPE	OMIM	111	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys95Asp	141900.0187	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN N, BETA TYPE	OMIM	138	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys95Glu	141900.0188	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN N (BALTIMORE)||HEMOGLOBIN N (JENKINS), HEMOGLOBIN JENKINS, HEMOGLOBIN HOPKINS 1, HEMOGLOBIN KENWOOD	OMIM	111	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys95Glu	141900.0188	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN N (BALTIMORE)||HEMOGLOBIN N (JENKINS), HEMOGLOBIN JENKINS, HEMOGLOBIN HOPKINS 1, HEMOGLOBIN KENWOOD	OMIM	138	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys61Glu	141900.0190	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN N (SEATTLE)	OMIM	71	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys61Glu	141900.0190	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN N (SEATTLE)	OMIM	80	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys8Glu	141900.0191	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN N (TIMONE)	OMIM	4	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys17Glu	141900.0192	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN NAGASAKI	OMIM	10	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys17Glu	141900.0192	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN NAGASAKI	OMIM	13	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His97Pro	141900.0193	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN NAGOYA	OMIM	113	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.His97Pro	141900.0193	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN NAGOYA	OMIM	140	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Tyr130Ser	141900.0194	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN NEVERS	OMIM	196	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Pro100Arg	141900.0195	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN NEW MEXICO	OMIM	119	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Pro100Arg	141900.0195	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN NEW MEXICO	OMIM	149	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val113Glu	141900.0196	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN NEW YORK||HEMOGLOBIN KAOHSIUNG	OMIM	162	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His92Pro	141900.0197	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN NEWCASTLE	OMIM	108	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.His92Pro	141900.0197	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN NEWCASTLE	OMIM	135	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Pro36Ser	141900.0199	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN NORTH CHICAGO	OMIM	45	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Pro36Ser	141900.0199	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN NORTH CHICAGO	OMIM	40	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val134Glu	141900.0200	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN NORTH SHORE||HEMOGLOBIN NORTH SHORE-CARACAS	OMIM	200	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val98Gly	141900.0201	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN NOTTINGHAM	OMIM	114	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val98Gly	141900.0201	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN NOTTINGHAM	OMIM	141	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu121Lys	141900.0202	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN O (ARAB)||HEMOGLOBIN EGYPT	OMIM	170	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp52Ala	141900.0203	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN OCHO RIOS	OMIM	62	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp52Ala	141900.0203	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN OCHO RIOS	OMIM	65	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala142Asp	141900.0204	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN OHIO	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Leu48Arg	141900.0205	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN OKALOOSA	OMIM	58	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu48Arg	141900.0205	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN OKALOOSA	OMIM	61	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His2Gln	141900.0206	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN OKAYAMA	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Cys93Arg	141900.0207	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN OKAZAKI	OMIM	109	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Cys93Arg	141900.0207	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN OKAZAKI	OMIM	136	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu141Arg	141900.0208	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN OLMSTED	OMIM	207	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala86Asp	141900.0209	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN OLOMOUC	OMIM	102	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ala86Asp	141900.0209	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN OLOMOUC	OMIM	129	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val20Met	141900.0210	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN OLYMPIA	OMIM	22	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val20Met	141900.0210	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN OLYMPIA	OMIM	24	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Tyr145Asn	141900.0211	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN OSLER||HEMOGLOBIN NANCY, HEMOGLOBIN FORT GORDON	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Asp52Asn	141900.0212	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN OSU CHRISTIANSBORG	OMIM	62	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp52Asn	141900.0212	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN OSU CHRISTIANSBORG	OMIM	65	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His117Arg	141900.0213	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN P||HEMOGLOBIN P (GALVESTON)	OMIM	166	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val23Phe	141900.0216	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PALMERSTON NORTH	OMIM	25	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val23Phe	141900.0216	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PALMERSTON NORTH	OMIM	27	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu75Arg	141900.0217	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PASADENA	OMIM	85	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu75Arg	141900.0217	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PASADENA	OMIM	94	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu32Pro	141900.0218	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PERTH||HEMOGLOBIN ABRAHAM LINCOLN, HEMOGLOBIN KOBE	OMIM	34	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu32Pro	141900.0218	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PERTH||HEMOGLOBIN ABRAHAM LINCOLN, HEMOGLOBIN KOBE	OMIM	36	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val111Phe	141900.0219	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PETERBOROUGH	OMIM	130	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val111Phe	141900.0219	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PETERBOROUGH	OMIM	160	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Tyr35Phe	141900.0220	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PHILLY	OMIM	44	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Tyr35Phe	141900.0220	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PHILLY	OMIM	39	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu90Asp	141900.0221	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PIERRE-BENITE	OMIM	106	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Glu90Asp	141900.0221	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PIERRE-BENITE	OMIM	133	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val34Phe	141900.0222	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PITIE-SALPETRIERE	OMIM	36	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val34Phe	141900.0222	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PITIE-SALPETRIERE	OMIM	38	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly56Arg	141900.0223	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN POISSY	OMIM	66	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly56Arg	141900.0223	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN POISSY	OMIM	75	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ser9Cys	141900.0224	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PORTO ALEGRE	OMIM	2	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ser9Cys	141900.0224	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PORTO ALEGRE	OMIM	5	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu101Asp	141900.0225	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN POTOMAC	OMIM	120	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Glu101Asp	141900.0225	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN POTOMAC	OMIM	150	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asn108Lys	141900.0226	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PRESBYTERIAN	OMIM	127	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asn108Lys	141900.0226	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PRESBYTERIAN	OMIM	157	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly83Asp	141900.0228	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PYRGOS	OMIM	99	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly83Asp	141900.0228	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PYRGOS	OMIM	126	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu78Arg	141900.0229	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN QUIN-HAI	OMIM	88	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu78Arg	141900.0229	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN QUIN-HAI	OMIM	97	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp99Ala	141900.0230	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN RADCLIFFE	OMIM	118	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp99Ala	141900.0230	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN RADCLIFFE	OMIM	142	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys82Thr	141900.0231	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN RAHERE	OMIM	98	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys82Thr	141900.0231	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN RAHERE	OMIM	101	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Tyr145Cys	141900.0232	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN RAINIER	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Val1Ala	141900.0233	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN RALEIGH	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Trp15Gly	141900.0234	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN RANDWICK	OMIM	8	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Trp15Gly	141900.0234	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN RANDWICK	OMIM	11	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu96Val	141900.0235	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN REGINA	OMIM	112	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu96Val	141900.0235	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN REGINA	OMIM	139	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asn102Lys	141900.0236	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN RICHMOND	OMIM	121	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asn102Lys	141900.0236	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN RICHMOND	OMIM	151	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys8Thr	141900.0237	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN RIO GRANDE	OMIM	4	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly24Arg	141900.0238	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN RIVERDALE-BRONX	OMIM	26	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly24Arg	141900.0238	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN RIVERDALE-BRONX	OMIM	28	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys120Asn	141900.0239	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN RIYADH||HEMOGLOBIN KARATSU	OMIM	169	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu90Gly	141900.0240	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ROSEAU-POINTE A PITRE	OMIM	106	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Glu90Gly	141900.0240	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ROSEAU-POINTE A PITRE	OMIM	133	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Trp37Arg	141900.0241	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ROTHSCHILD	OMIM	46	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Trp37Arg	141900.0241	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ROTHSCHILD	OMIM	41	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu101Gln	141900.0242	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN RUSH	OMIM	120	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Glu101Gln	141900.0242	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN RUSH	OMIM	150	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu6Val	141900.0243	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN S||SICKLE CELL ANEMIA||MALARIA, RESISTANCE TO	OMIM	2	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu6Val	141900.0244	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN S (ANTILLES)	OMIM	2	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu6Val	141900.0245	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN S (OMAN)||HEMOGLOBIN S/O (ARAB)	OMIM	2	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu6Val	141900.0246	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN S (PROVIDENCE)	OMIM	2	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu6Val	141900.0247	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN S (TRAVIS)	OMIM	2	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu91Pro	141900.0248	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SABINE	OMIM	107	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu91Pro	141900.0248	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SABINE	OMIM	134	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala140Thr	141900.0249	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SAINT JACQUES	OMIM	206	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His117Pro	141900.0250	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SAITAMA	OMIM	166	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu14Pro	141900.0251	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SAKI	OMIM	7	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu14Pro	141900.0251	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SAKI	OMIM	10	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val109Met	141900.0252	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SAN DIEGO	OMIM	128	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val109Met	141900.0252	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SAN DIEGO	OMIM	158	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu88Pro	141900.0253	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SANTA ANA	OMIM	104	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu88Pro	141900.0253	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SANTA ANA	OMIM	131	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly24Val	141900.0254	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SAVANNAH	OMIM	26	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly24Val	141900.0254	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SAVANNAH	OMIM	28	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala70Asp	141900.0256	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SEATTLE	OMIM	80	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ala70Asp	141900.0256	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SEATTLE	OMIM	89	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Phe42Val	141900.0257	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SENDAGI||HEMOGLOBIN WARSAW	OMIM	51	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Phe42Val	141900.0257	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SENDAGI||HEMOGLOBIN WARSAW	OMIM	55	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gln131Pro	141900.0258	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SHANGHAI	OMIM	197	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gln131Lys	141900.0259	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SHELBY||HEMOGLOBIN LESLIE, HEMOGLOBIN DEACONESS	OMIM	197	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly74Asp	141900.0260	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SHEPHERDS BUSH	OMIM	84	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly74Asp	141900.0260	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SHEPHERDS BUSH	OMIM	93	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Arg104Thr	141900.0261	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SHERWOOD FOREST	OMIM	123	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Arg104Thr	141900.0261	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SHERWOOD FOREST	OMIM	153	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu110Pro	141900.0262	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SHOWA-YAKUSHIJI||BETA-PLUS-THALASSEMIA, BETA-SHOWA-YAKUSHIJI THALASSEMIA	OMIM	129	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu110Pro	141900.0262	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SHOWA-YAKUSHIJI||BETA-PLUS-THALASSEMIA, BETA-SHOWA-YAKUSHIJI THALASSEMIA	OMIM	159	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu7Lys	141900.0263	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SIRIRAJ||HEMOGLOBIN G (HONAN)	OMIM	3	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu14Arg	141900.0264	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SOGN	OMIM	7	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu14Arg	141900.0264	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SOGN	OMIM	10	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu106Pro	141900.0265	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SOUTHAMPTON||HEMOGLOBIN CASPER	OMIM	125	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu106Pro	141900.0265	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SOUTHAMPTON||HEMOGLOBIN CASPER	OMIM	155	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu28Gln	141900.0268	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ST. LOUIS||HEINZ BODY HEMOLYTIC ANEMIA	OMIM	30	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu28Gln	141900.0268	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ST. LOUIS||HEINZ BODY HEMOLYTIC ANEMIA	OMIM	32	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asn102Tyr	141900.0269	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ST. MANDE	OMIM	121	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asn102Tyr	141900.0269	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ST. MANDE	OMIM	151	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val111Ala	141900.0270	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN STANMORE	OMIM	130	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val111Ala	141900.0270	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN STANMORE	OMIM	160	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val23Asp	141900.0271	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN STRASBOURG	OMIM	25	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val23Asp	141900.0271	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN STRASBOURG	OMIM	27	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp52His	141900.0272	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SUMMER HILL	OMIM	62	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp52His	141900.0272	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SUMMER HILL	OMIM	65	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Pro36Arg	141900.0273	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SUNNYBROOK	OMIM	45	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Pro36Arg	141900.0273	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SUNNYBROOK	OMIM	40	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val67Ala	141900.0274	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SYDNEY	OMIM	77	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val67Ala	141900.0274	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SYDNEY	OMIM	86	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His143Pro	141900.0275	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SYRACUSE	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Glu26Lys	141900.0276	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN T (CAMBODIA)	OMIM	28	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Glu26Lys	141900.0276	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN T (CAMBODIA)	OMIM	30	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly83Cys	141900.0277	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TA-LI	OMIM	99	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly83Cys	141900.0277	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TA-LI	OMIM	126	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Arg30Ser	141900.0278	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TACOMA||HEINZ BODY HEMOLYTIC ANEMIA	OMIM	32	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Arg30Ser	141900.0278	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TACOMA||HEINZ BODY HEMOLYTIC ANEMIA	OMIM	34	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys120Gln	141900.0280	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TAKAMATSU	OMIM	169	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp79Tyr	141900.0281	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TAMPA	OMIM	89	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp79Tyr	141900.0281	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TAMPA	OMIM	98	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gln39Arg	141900.0282	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TIANSHUI	OMIM	48	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gln39Arg	141900.0282	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TIANSHUI	OMIM	52	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp73Gly	141900.0283	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TILBURG	OMIM	83	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp73Gly	141900.0283	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TILBURG	OMIM	92	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala142Pro	141900.0286	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TOYOAKE	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Leu106Gln	141900.0287	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TUBINGEN	OMIM	125	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu106Gln	141900.0287	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TUBINGEN	OMIM	155	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Pro124Ser	141900.0288	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TUNIS	OMIM	190	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Pro124Gln	141900.0289	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TY GARD	OMIM	190	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gln39Glu	141900.0290	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN VAASA	OMIM	48	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gln39Glu	141900.0290	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN VAASA	OMIM	52	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp73Tyr	141900.0291	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN VANCOUVER	OMIM	83	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp73Tyr	141900.0291	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN VANCOUVER	OMIM	92	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ser89Arg	141900.0292	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN VANDERBILT	OMIM	105	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ser89Arg	141900.0292	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN VANDERBILT	OMIM	132	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Thr123Ile	141900.0294	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN VILLEJUIF	OMIM	189	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala27Asp	141900.0295	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN VOLGA||HEMOGLOBIN DRENTHE	OMIM	29	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ala27Asp	141900.0295	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN VOLGA||HEMOGLOBIN DRENTHE	OMIM	31	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Pro5Arg	141900.0296	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN WARWICKSHIRE	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Tyr130Asp	141900.0297	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN WIEN	OMIM	196	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Pro51Arg	141900.0298	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN WILLAMETTE	OMIM	61	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Pro51Arg	141900.0298	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN WILLAMETTE	OMIM	64	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val11Asp	141900.0299	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN WINDSOR	OMIM	4	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val11Asp	141900.0299	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN WINDSOR	OMIM	7	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His97Leu	141900.0300	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN WOOD	OMIM	113	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.His97Leu	141900.0300	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN WOOD	OMIM	140	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp99His	141900.0301	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN YAKIMA	OMIM	118	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp99His	141900.0301	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN YAKIMA	OMIM	142	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys132Asn	141900.0302	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN YAMAGATA	OMIM	198	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val60Leu	141900.0303	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN YATSUSHIRO	OMIM	70	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val60Leu	141900.0303	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN YATSUSHIRO	OMIM	79	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu31Pro	141900.0304	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN YOKOHAMA	OMIM	33	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu31Pro	141900.0304	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN YOKOHAMA	OMIM	35	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His146Pro	141900.0305	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN YORK	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Asn108Asp	141900.0306	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN YOSHIZUKA	OMIM	127	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asn108Asp	141900.0306	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN YOSHIZUKA	OMIM	157	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp99Tyr	141900.0307	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN YPSILANTI	OMIM	118	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp99Tyr	141900.0307	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN YPSILANTI	OMIM	142	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Pro58Arg	141900.0308	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN YUKUHASHI||HEMOGLOBIN DHOFAR	OMIM	68	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Pro58Arg	141900.0308	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN YUKUHASHI||HEMOGLOBIN DHOFAR	OMIM	77	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp21Tyr	141900.0309	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN YUSA	OMIM	23	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp21Tyr	141900.0309	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN YUSA	OMIM	25	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His63Arg	141900.0310	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ZURICH	OMIM	73	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.His63Arg	141900.0310	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ZURICH	OMIM	82	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gln127Pro	141900.0319	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HOUSTON||BETA-PLUS-THALASSEMIA, BETA-HOUSTON-THALASSEMIA	OMIM	193	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gln127Pro	141900.0320	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	BETA-PLUS-THALASSEMIA	OMIM	193	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val60Glu	141900.0321	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	BETA-PLUS-THALASSEMIA||HEMOGLOBIN CAGLIARI	OMIM	70	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val60Glu	141900.0321	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	BETA-PLUS-THALASSEMIA||HEMOGLOBIN CAGLIARI	OMIM	79	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Met1Arg	141900.0344	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	BETA-ZERO-THALASSEMIA	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Met1Thr	141900.0345	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	BETA-ZERO-THALASSEMIA||BETA-THALASSEMIA, LERMONTOV TYPE	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Leu105Phe	141900.0391	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SOUTH MILWAUKEE	OMIM	124	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu105Phe	141900.0391	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SOUTH MILWAUKEE	OMIM	154	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val126Gly	141900.0393	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN DHONBURI||HEMOGLOBIN NEAPOLIS	OMIM	192	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly119Ala	141900.0394	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN IOWA	OMIM	168	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala76Pro	141900.0396	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CALAIS	OMIM	86	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ala76Pro	141900.0396	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CALAIS	OMIM	95	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu114Met	141900.0397	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ZENGCHENG	OMIM	163	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu106Arg	141900.0398	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TERRE HAUTE||BETA-PLUS-THALASSEMIA	OMIM	125	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu106Arg	141900.0398	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TERRE HAUTE||BETA-PLUS-THALASSEMIA	OMIM	155	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Thr87Pro	141900.0400	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN VALLETTA	OMIM	103	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Thr87Pro	141900.0400	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN VALLETTA	OMIM	130	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val54Asp	141900.0401	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN JACKSONVILLE	OMIM	64	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val54Asp	141900.0401	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN JACKSONVILLE	OMIM	73	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu28Arg	141900.0402	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CHESTERFIELD	OMIM	30	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu28Arg	141900.0402	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CHESTERFIELD	OMIM	32	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Thr87Ile	141900.0403	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN QUEBEC-CHORI||HEMOGLOBIN CHORI	OMIM	103	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Thr87Ile	141900.0403	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN QUEBEC-CHORI||HEMOGLOBIN CHORI	OMIM	130	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His92Asn	141900.0404	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN REDONDO||HEMOGLOBIN ISEHARA	OMIM	108	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.His92Asn	141900.0404	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN REDONDO||HEMOGLOBIN ISEHARA	OMIM	135	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp99Glu	141900.0405	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN COIMBRA	OMIM	118	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp99Glu	141900.0405	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN COIMBRA	OMIM	142	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Cys93Arg	141900.0407	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CLEVELAND	OMIM	109	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Cys93Arg	141900.0407	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CLEVELAND	OMIM	136	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Pro51Ser	141900.0408	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN GRENOBLE	OMIM	61	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Pro51Ser	141900.0408	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN GRENOBLE	OMIM	64	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His146Gln	141900.0409	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KODAIRA	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Lys17Gln	141900.0411	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN NIKOSIA	OMIM	10	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys17Gln	141900.0411	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN NIKOSIA	OMIM	13	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu121Gly	141900.0412	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ST. FRANCIS	OMIM	170	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Cys112Tyr	141900.0413	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN YAHATA	OMIM	161	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His143Asp	141900.0414	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN RANCHO MIRAGE	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Leu32Val	141900.0420	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MUSCAT	OMIM	34	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu32Val	141900.0420	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MUSCAT	OMIM	36	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu48Pro	141900.0421	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BAB-SAADOUN	OMIM	58	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu48Pro	141900.0421	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BAB-SAADOUN	OMIM	61	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu114Pro	141900.0424	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	BETA-THALASSEMIA INTERMEDIA||HEMOGLOBIN BRESCIA, HEMOGLOBIN DURHAM-N.C.	OMIM	163	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His92Pro	141900.0427	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN DUINO	OMIM	108	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.His92Pro	141900.0427	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN DUINO	OMIM	135	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val18Met	141900.0428	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BADEN	OMIM	11	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val18Met	141900.0428	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BADEN	OMIM	14	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His2Leu	141900.0429	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN GRAZ	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Met1Ile	141900.0430	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	BETA-ZERO-THALASSEMIA	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Asp21His	141900.0431	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KARLSKOGA	OMIM	23	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp21His	141900.0431	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KARLSKOGA	OMIM	25	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly83Arg	141900.0432	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MUSKEGON	OMIM	99	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly83Arg	141900.0432	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MUSKEGON	OMIM	126	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp79His	141900.0433	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TIGRAYE	OMIM	89	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp79His	141900.0433	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TIGRAYE	OMIM	98	cd01040	4504349,NP_000509
79742	193804856	Disease	p.Asp79His	141900.0434	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Asp79His	141900.0434	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
3043	56749856	Disease	p.Gln131Arg	141900.0435	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SARREBOURG	OMIM	197	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Phe103Ile	141900.0436	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SAINT NAZAIRE	OMIM	122	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Phe103Ile	141900.0436	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SAINT NAZAIRE	OMIM	152	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala115Asp	141900.0437	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HRADEC KRALOVE||HEMOGLOBIN HK	OMIM	164	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val67Gly	141900.0438	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MANUKAU	OMIM	77	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val67Gly	141900.0438	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MANUKAU	OMIM	86	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ser89Thr	141900.0439	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN VILLAVERDE	OMIM	105	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ser89Thr	141900.0439	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN VILLAVERDE	OMIM	132	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Trp37Gly	141900.0440	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HOWICK	OMIM	46	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Trp37Gly	141900.0440	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HOWICK	OMIM	41	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Phe41Ser	141900.0441	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN DENVER	OMIM	50	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Phe41Ser	141900.0441	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN DENVER	OMIM	54	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala135Glu	141900.0442	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BECKMAN	OMIM	201	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu32Gln	141900.0444	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MEDICINE LAKE	OMIM	34	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu32Gln	141900.0444	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MEDICINE LAKE	OMIM	36	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu121Ala	141900.0445	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN D (NEATH)	OMIM	170	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val11Phe	141900.0446	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN WASHTENAW	OMIM	4	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val11Phe	141900.0446	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN WASHTENAW	OMIM	7	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val67Met	141900.0447	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ALESHA	OMIM	77	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val67Met	141900.0447	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ALESHA	OMIM	86	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gln127Arg	141900.0448	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN DIEPPE	OMIM	193	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val20Glu	141900.0450	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TROLLHAETTAN	OMIM	22	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val20Glu	141900.0450	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TROLLHAETTAN	OMIM	24	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Pro5Ser	141900.0451	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TYNE	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Val98Met	141900.0452	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MEDICINE LAKE	OMIM	114	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val98Met	141900.0452	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MEDICINE LAKE	OMIM	141	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp79Asn	141900.0453	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN YAIZU	OMIM	89	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp79Asn	141900.0453	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN YAIZU	OMIM	98	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu31Arg	141900.0455	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HAKKARI	OMIM	33	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu31Arg	141900.0455	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HAKKARI	OMIM	35	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala140Val	141900.0457	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN PUTTELANGE	OMIM	206	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Phe45Cys	141900.0458	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ARTA	OMIM	54	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Phe45Cys	141900.0458	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ARTA	OMIM	58	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asn139Tyr	141900.0459	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN AURORA	OMIM	205	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys8Met	141900.0460	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN NAKANO	OMIM	4	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Thr38Asn	141900.0461	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HINWIL	OMIM	47	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Thr38Asn	141900.0461	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HINWIL	OMIM	51	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu96Pro	141900.0462	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN DEBROUSSE	OMIM	112	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu96Pro	141900.0462	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN DEBROUSSE	OMIM	139	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys82Gln	141900.0464	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TSURUMAI	OMIM	98	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys82Gln	141900.0464	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TSURUMAI	OMIM	101	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala62Asp	141900.0465	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (EUROPA)	OMIM	72	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ala62Asp	141900.0465	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN J (EUROPA)	OMIM	81	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu26Gly	141900.0466	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HB AUBENAS	OMIM	28	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Glu26Gly	141900.0466	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HB AUBENAS	OMIM	30	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Arg104Ser	141900.0467	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HB CAMPERDOWN	OMIM	123	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Arg104Ser	141900.0467	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HB CAMPERDOWN	OMIM	153	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His77Arg	141900.0469	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN COSTA RICA	OMIM	87	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.His77Arg	141900.0469	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN COSTA RICA	OMIM	96	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val1Leu	141900.0471	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HB NIIGATA	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Lys82Glu	141900.0473	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HB GAMBARA	OMIM	98	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys82Glu	141900.0473	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HB GAMBARA	OMIM	101	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gln131His	141900.0476	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SILVER SPRINGS	OMIM	197	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His143Tyr	141900.0477	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BURTON-UPON-TRENT||HEMOGLOBIN OLD DOMINION	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Val34Met	141900.0478	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN RIO CLARO	OMIM	36	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val34Met	141900.0478	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN RIO CLARO	OMIM	38	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu28Met	141900.0480	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CHILE	OMIM	30	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu28Met	141900.0480	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CHILE	OMIM	32	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Pro124Leu	141900.0481	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TENDE	OMIM	190	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu81His	141900.0482	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN LA ROCHE-SUR-YON	OMIM	97	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu81His	141900.0482	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN LA ROCHE-SUR-YON	OMIM	100	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala10Val	141900.0483	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN IRAQ-HALABJA	OMIM	3	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ala10Val	141900.0483	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN IRAQ-HALABJA	OMIM	6	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys8Arg	141900.0484	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN LUCKNOW	OMIM	4	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asn139Thr	141900.0485	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SAGAMI	OMIM	205	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Phe118Cys	141900.0486	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HARROW	OMIM	167	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Pro36Ala	141900.0487	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BRIE COMTE ROBERT	OMIM	45	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Pro36Ala	141900.0487	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BRIE COMTE ROBERT	OMIM	40	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys144Met	141900.0488	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BARBIZON	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.His146Tyr	141900.0489	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BOLOGNA-ST. ORSOLA	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Pro36His	141900.0490	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN VILA REAL	OMIM	45	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Pro36His	141900.0490	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN VILA REAL	OMIM	40	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Thr84Ala	141900.0491	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SAALE	OMIM	100	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Thr84Ala	141900.0491	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SAALE	OMIM	127	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Phe122Leu	141900.0492	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BUSHEY	OMIM	188	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys65Met	141900.0493	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CASABLANCA	OMIM	75	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys65Met	141900.0493	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CASABLANCA	OMIM	84	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His117Tyr	141900.0494	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TSUKUMI	OMIM	166	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Thr123Asn	141900.0495	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ERNZ	OMIM	189	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val133Ala	141900.0496	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN RENERT	OMIM	199	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val1Gly	141900.0497	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN WATFORD	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Val134Ala	141900.0498	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN YAOUNDE	OMIM	200	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala128Val	141900.0499	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SITIA	OMIM	194	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala128Pro	141900.0500	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MONT SAINT-AIGNAN	OMIM	194	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly136Arg	141900.0501	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN 'T LANGE LAND	OMIM	202	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ser9Tyr	141900.0502	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN D (AGRI)	OMIM	2	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ser9Tyr	141900.0502	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN D (AGRI)	OMIM	5	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys8Asn	141900.0504	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN LIMASSOL	OMIM	4	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Cys112Phe	141900.0506	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CANTERBURY	OMIM	161	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val11Ile	141900.0507	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN O (TIBESTI)	OMIM	4	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val11Ile	141900.0507	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN O (TIBESTI)	OMIM	7	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val126Leu	141900.0508	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MOLFETTA	OMIM	192	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His146Gln	141900.0510	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN KODAIRA II	OMIM	No Domain	N/A	4504349,NP_000509
3043	56749856	Disease	p.Phe41Cys	141900.0511	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ILMENAU	OMIM	50	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Phe41Cys	141900.0511	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ILMENAU	OMIM	54	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly64Ala	141900.0512	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN AUBAGNE	OMIM	74	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly64Ala	141900.0512	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN AUBAGNE	OMIM	83	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ser49Cys	141900.0513	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN COLIMA	OMIM	59	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ser49Cys	141900.0513	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN COLIMA	OMIM	62	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Lys61Gln	141900.0514	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN POCOS DE CALDAS	OMIM	71	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Lys61Gln	141900.0514	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN POCOS DE CALDAS	OMIM	80	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val34Asp	141900.0516	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SANTANDER	OMIM	36	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val34Asp	141900.0516	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SANTANDER	OMIM	38	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala138Thr	141900.0517	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BUZEN	OMIM	204	cd01040	4504349,NP_000509
3043	56749856	Disease	p.His97Asn	141900.0518	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SANTA CLARA	OMIM	113	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.His97Asn	141900.0518	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SANTA CLARA	OMIM	140	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Phe103Val	141900.0519	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SPARTA	OMIM	122	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Phe103Val	141900.0519	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN SPARTA	OMIM	152	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu6Val	141900.0521	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN S (CAMEROON)	OMIM	2	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala86Pro	141900.0522	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CARDARELLI	OMIM	102	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ala86Pro	141900.0522	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN CARDARELLI	OMIM	129	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu6Val	141900.0523	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN JAMAICA PLAIN	OMIM	2	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Leu68Phe	141900.0524	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ROCKFORD	OMIM	78	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Leu68Phe	141900.0524	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ROCKFORD	OMIM	87	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Glu26Ala	141900.0525	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TRIPOLI	OMIM	28	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Glu26Ala	141900.0525	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TRIPOLI	OMIM	30	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Gly29Ser	141900.0526	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TIZI-OUZOU	OMIM	31	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Gly29Ser	141900.0526	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN TIZI-OUZOU	OMIM	33	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp52Gly	141900.0531	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HOKUSETSU	OMIM	62	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp52Gly	141900.0531	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN HOKUSETSU	OMIM	65	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Val23Ala	141900.0533	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ZOETERWOUDE	OMIM	25	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Val23Ala	141900.0533	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN ZOETERWOUDE	OMIM	27	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ser9Tyr	141900.0534	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BREM-SUR-MER	OMIM	2	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ser9Tyr	141900.0534	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BREM-SUR-MER	OMIM	5	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Asp94Tyr	141900.0535	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN GELDROP ST. ANNA	OMIM	110	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Asp94Tyr	141900.0535	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN GELDROP ST. ANNA	OMIM	137	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Ala70Val	141900.0536	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MARINEO	OMIM	80	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Ala70Val	141900.0536	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN MARINEO	OMIM	89	cd01040	4504349,NP_000509
3043	56749856	Disease	p.Thr38Ile	141900.0537	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN LA CORUNA	OMIM	47	pfam00042	4504349,NP_000509
3043	56749856	Disease	p.Thr38Ile	141900.0537	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN LA CORUNA	OMIM	51	cd01040	4504349,NP_000509
79742	193804856	Disease	p.Thr38Ile	141900.9999	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BETA VARIANTS, MOLECULAR DEFECT UNKNOWN	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Thr38Ile	141900.9999	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900	HEMOGLOBIN BETA VARIANTS, MOLECULAR DEFECT UNKNOWN	OMIM	No Domain	N/A	193804854,NP_789789
3040	57013850	Disease	p.Lys139Asn	141850.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN WAYNE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Leu125Pro	141850.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN QUONG SZE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Val62Met	141850.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN EVANS	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Leu109Arg	141850.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN SUAN-DOK	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Lys61Asn	141850.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN J (BUDA)||ERYTHROCYTOSIS	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Glu27Val	141850.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN SPANISH TOWN	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Gly15Asp	141850.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN J (OXFORD)||HEMOGLOBIN I (INTERLAKEN), HEMOGLOBIN N (COSENZA)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Lys16Glu	141850.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN I||HEMOGLOBIN I (BURLINGTON), HEMOGLOBIN I (PHILADELPHIA), HEMOGLOBIN I (SKAMANIA), HEMOGLOBIN I (TEXAS)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Asp47His	141850.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN L (FERRARA)||HEMOGLOBIN HASHARON, HEMOGLOBIN SINAI, HEMOGLOBIN SEALY	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Leu48Arg	141850.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN MONTGOMERY||HEMOGLOBIN BIRMINGHAM (USA)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Asn68Lys	141850.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN G (BRISTOL)||HEMOGLOBIN D (BALTIMORE), HEMOGLOBIN D (ST. LOUIS), HEMOGLOBIN D (WASHINGTON), HEMOGLOBIN G (AZAKUOLI), HEMOGLOBIN G (KNOXVILLE), HEMOGLOBIN G (PHILADELPHIA), HEMOGLOBIN KNOXVILLE-1, HEMOGLOBIN STANLEYVILLE-I	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Asp85Val	141850.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN INKSTER	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Ala88Val	141850.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN COLUMBIA MISSOURI	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Ala130Pro	141850.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN SUN PRAIRIE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Asn78His	141850.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN DAVENPORT	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Met1Thr	141850.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	ALPHA-THALASSEMIA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Met1Val	141850.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN H DISEASE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Lys139Glu	141850.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN HANAMAKI	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Asp47Tyr	141850.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN KURDISTAN	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Leu29Pro	141850.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN AGRINIO||HYPOCHROMIC MICROCYTIC ANEMIA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Ala111Val	141850.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN ANAMOSA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Leu136Pro	141850.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN BIBBA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Cys104Tyr	141850.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN SALLANCHES	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Leu80Val	141850.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN CONAKRY	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.His50Asp	141850.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN J (SARDEGNA)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Asp126Asn	141850.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN TARRANT	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Val1Gly	141850.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN ANTANANARIVO	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.His58Gln	141850.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN BOGHE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Pro77His	141850.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN TOULON	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Ala26Val	141850.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN CAMPINAS	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.His20Asp	141850.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN NIKAIA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Lys90Arg	141850.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN CLINICO-MADRID	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Leu66Pro	141850.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN DARTMOUTH	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Val55Ala	141850.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN GERLAND	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Ser102Arg	141850.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN MANITOBA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Asn9Lys	141850.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN PARK RIDGE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.His72Asp	141850.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN NORTON	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.His103Tyr	141850.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN LOMBARD	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Leu113Arg	141850.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN SAN ANTONIO	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Pro95Ser	141850.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN RAMPA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Pro37Leu	141850.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN MANAWATU	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Glu30Gln	141850.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN G (HONOLULU)||HEMOGLOBIN G (HONG KONG), HEMOGLOBIN G (SINGAPORE), HEMOGLOBIN G (CHINESE)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Arg31Ser	141850.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN PRATO	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Phe33Ser	141850.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN CHARTRES	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Lys139Asn	141850.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN FUKUI	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Ala65Thr	141850.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN PART-DIEU	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Ala69Thr	141850.0061	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN DECINES-CHARPIEU	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Ser133Arg	141850.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN VAL DE MARNE||HEMOGLOBIN FOOTSCRAY	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Gly22Gly	141850.0064	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	ALPHA-PLUS-THALASSEMIA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Gly59Arg	141850.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN ZURICH ALBISRIEDEN||ALPHA-PLUS-THALASSEMIA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Ser81Pro	141850.0066	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN PASSY	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Leu125Arg	141850.0067	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN PLASENCIA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Lys7Glu	141850.0068	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN KUROSAKI	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3040	57013850	Disease	p.Asp75Val	141850.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141850	HEMOGLOBIN AL-HAMMADI RIYADH	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His50Arg	141800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN AICHI	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys11Asn	141800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN ALBANY-GEORGIA||HEMOGLOBIN ALBANY-SUMA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys11Glu	141800.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN ANANTHARAJ	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Leu80Arg	141800.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN ANN ARBOR	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp47Asn	141800.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN ARYA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp85Tyr	141800.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN ATAGO	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ser138Pro	141800.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN ATTLEBORO	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Met76Thr	141800.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN AZTEC	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His45Gln	141800.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN BARI	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys16Asn	141800.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN BEIJING	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Leu136Pro	141800.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN BIBBA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Pro37Arg	141800.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN BOURMEDES	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys90Asn	141800.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN BROUSSAIS||HEMOGLOBIN J (BROUSSAIS), HEMOGLOBIN TAGAWA I	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Glu23Lys	141800.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN CHAD	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp74Gly	141800.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN CHAPEL HILL	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Arg92Leu	141800.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN CHESAPEAKE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Pro114Arg	141800.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN CHIAPAS	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Leu136Met	141800.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN CHICAGO	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Leu2Arg	141800.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN CHONGQING	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His103Arg	141800.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN CONTALDO	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp47Ala	141800.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN CORDELE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys60Glu	141800.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN DAGESTAN	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asn97Lys	141800.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN DALLAS	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His72Arg	141800.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN DANESHGAH-TEHRAN	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Pro95Ala	141800.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN DENMARK HILL	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp75Ala	141800.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN DUAN	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp6Asn	141800.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN DUNN	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ser84Arg	141800.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN ETOBICOKE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Trp14Arg	141800.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN EVANSTON	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp6Val	141800.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN FERNDOWN	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala21Pro	141800.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN FONTAINEBLEAU	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His45Arg	141800.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN FORT DE FRANCE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Glu23Val	141800.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN G (AUDHALI)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Glu27Gly	141800.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN G (FORT WORTH)||HEMOGLOBIN FORT WORTH	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Pro95Leu	141800.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN G (GEORGIA)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
79742	193804856	Disease	p.Pro95Leu	141800.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	MOVED TO 141850.0054	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Pro95Leu	141800.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	MOVED TO 141850.0054	OMIM	No Domain	N/A	193804854,NP_789789
3039	57013850	Disease	p.Asp85Asn	141800.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN G (NORFOLK)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp74Asn	141800.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN G (PEST)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp74His	141800.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN G (TAICHUNG)||HEMOGLOBIN Q, HEMOGLOBIN Q (THAILAND), HEMOGLOBIN MAHIDOL, HEMOGLOBIN ASABARA, HEMOGLOBIN KURASHIKI	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp64Asn	141800.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN G (WAIMANALO)||HEMOGLOBIN AIDA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala82Asp	141800.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN GARDEN STATE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp64Gly	141800.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN GUANGZHOU||HEMOGLOBIN HANGZHOU	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Pro77Arg	141800.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN GUIZHOU||HEMOGLOBIN UTSUNOMIYA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys90Met	141800.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN HANDA||HEMOGLOBIN MUNAKATA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Gly18Arg	141800.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN HANDSWORTH	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys16Met	141800.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN HARBIN	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Glu27Asp	141800.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN HEKINAN	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Phe43Leu	141800.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN HIROSAKI	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His20Arg	141800.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN HOBART	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His112Asp	141800.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN HOPKINS 2	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys16Glu	141800.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN I||HEMOGLOBIN I (BURLINGTON), HEMOGLOBIN I (PHILADELPHIA), HEMOGLOBIN I (SKAMANIA), HEMOGLOBIN I (TEXAS)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His87Arg	141800.0057	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN IWATA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Gly51Asp	141800.0058	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN J (ABIDJAN)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys61Thr	141800.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN J (ANATOLIA)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala120Glu	141800.0060	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN J (BIRMINGHAM)||HEMOGLOBIN J (MEERUT)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Arg141Gly	141800.0062	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN J (CAMAGUEY)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Arg92Gln	141800.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN J (CAPE TOWN)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Arg141Ser	141800.0064	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN J (CUBUJUQUI)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala71Glu	141800.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN J (HABANA)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala19Asp	141800.0066	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN J (KUROSH)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Gly22Asp	141800.0067	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN J (MEDELLIN)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala21Asp	141800.0068	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN J (NYANZA)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala12Asp	141800.0070	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN J (PARIS 1)||HEMOGLOBIN J (ALJEZUR)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys90Thr	141800.0071	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN J (RAJAPPEN)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala53Asp	141800.0072	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN J (ROVIGO)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asn78Asp	141800.0074	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN J (SINGA)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asn78Asp	141800.0075	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN J (SINGAPORE)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala19Glu	141800.0076	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN J (TASHIKUERGAN)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala115Asp	141800.0077	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN J (TONGARIKI)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala5Asp	141800.0078	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN J (TORONTO)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys127Asn	141800.0079	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN JACKSON	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala5Pro	141800.0080	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN KARACHI	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys40Glu	141800.0081	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN KARIYA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Pro44Arg	141800.0082	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN KAWACHI	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp47Gly	141800.0084	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN KOKURA||HEMOGLOBIN BEILINSON, HEMOGLOBIN MICHIGAN-I, HEMOGLOBIN MICHIGAN-II, HEMOGLOBIN L (GASLINI), HEMOGLOBIN TAGAWA II, HEMOGLOBIN UMI, HEMOGLOBIN MUGINO, HEMOGLOBIN YUKUHASHI-2	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Gly57Arg	141800.0086	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN L (PERSIAN GULF)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Arg141Leu	141800.0087	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN LEGNANO	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His20Gln	141800.0088	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN LE LAMENTIN	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp74Ala	141800.0089	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN LILLE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala88Ser	141800.0090	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN LOIRE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Tyr24His	141800.0091	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN LUXEMBOURG	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His58Tyr	141800.0092	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN M (BOSTON)||HEMOGLOBIN GOTHENBURG, HEMOGLOBIN M (GOTHENBURG), HEMOGLOBIN M (OSAKA), HEMOGLOBIN M (KISKUNHALAS)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His87Tyr	141800.0093	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN M (IWATE)||HEMOGLOBIN M (KANKAKEE), HEMOGLOBIN M (OLDENBURG), HEMOGLOBIN M (SENDAI)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
79742	193804856	Disease	p.His87Tyr	141800.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	MOVED TO 141850.0047	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.His87Tyr	141800.0094	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	MOVED TO 141850.0047	OMIM	No Domain	N/A	193804854,NP_789789
3039	57013850	Disease	p.Asp75Asn	141800.0095	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN MATSUE-OKI	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Glu23Gln	141800.0096	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN MEMPHIS	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Gln54Glu	141800.0097	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN MEXICO||HEMOGLOBIN J, HEMOGLOBIN J (MEXICO), HEMOGLOBIN J (PARIS 2), HEMOGLOBIN UPPSALA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Pro44Leu	141800.0098	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN MILLEDGEVILLE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Thr41Ser	141800.0099	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN MIYANO	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp75Gly	141800.0100	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN MIZUSHI	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Leu86Arg	141800.0101	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN MOABIT	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His20Tyr	141800.0104	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN NECKER ENFANTS-MALADES	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ser81Cys	141800.0105	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN NIGERIA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Met76Lys	141800.0106	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN NOKO	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Gly57Asp	141800.0107	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN NORFOLK||HEMOGLOBIN J (NORFOLK), HEMOGLOBIN KAGOSHIMA, HEMOGLOBIN NISHIK	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Pro114Leu	141800.0108	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN NOUAKCHOTT	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Arg141Cys	141800.0109	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN NUNOBIKI	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Glu116Lys	141800.0110	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN O (INDONESIA)||HEMOGLOBIN O (BUGINESE-X), HEMOGLOBIN BUGINESE-X, HEMOGLOBIN O (OLIVIERE), HEMOGLOBIN OLIVIERE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Glu30Lys	141800.0111	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN O (PADOVA)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Leu34Arg	141800.0112	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN OGI||HEMOGLOBIN QUEENS	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Glu116Gln	141800.0113	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN OLEANDER	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Gly15Arg	141800.0114	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN OTTAWA||HEMOGLOBIN SIAM	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Val121Met	141800.0115	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN OWARI	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp64Tyr	141800.0116	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN PERSPOLIS	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala110Asp	141800.0117	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN PETAH TIKVA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala63Asp	141800.0118	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN PONTOISE||HEMOGLOBIN J (PONTOISE)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Leu91Pro	141800.0119	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN PORT PHILLIP	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
79742	193804856	Disease	p.Leu91Pro	141800.0120	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	MOVED TO 141850.0055	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Leu91Pro	141800.0120	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	MOVED TO 141850.0055	OMIM	No Domain	N/A	193804854,NP_789789
3039	57013850	Disease	p.Asp64His	141800.0121	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN Q (INDIA)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp75His	141800.0122	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN Q (IRAN)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
79742	193804856	Disease	p.Asp75His	141800.0123	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	MOVED TO 141850.0052	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Asp75His	141800.0123	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	MOVED TO 141850.0052	OMIM	No Domain	N/A	193804854,NP_789789
3039	57013850	Disease	p.Glu23Gly	141800.0124	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN REIMS	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Gly51Arg	141800.0125	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN RUSS	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp126His	141800.0126	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN SASSARI	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ser49Arg	141800.0127	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN SAVARIA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp6Ala	141800.0128	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN SAWARA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp94Tyr	141800.0130	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN SETIF	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys56Glu	141800.0131	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN SHAARE ZEDEK	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala26Glu	141800.0132	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN SHENYANG	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Gln54Arg	141800.0133	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN SHIMONOSEKI||HEMOGLOBIN HIKOSHIMA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Glu27Lys	141800.0134	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN SHUANGFENG	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Arg141Pro	141800.0135	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN SINGAPORE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys127Thr	141800.0137	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN ST. CLAUDE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Pro95Arg	141800.0138	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN ST. LUKE'S	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asn78Lys	141800.0139	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN STANLEYVILLE-II	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His112Arg	141800.0140	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN STRUMICA||HEMOGLOBIN SERBIA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp94His	141800.0143	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN SUNSHINE SETH	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Arg141His	141800.0144	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN SURESNES	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp6Gly	141800.0145	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN SWAN RIVER	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys56Thr	141800.0147	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN THAILAND	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp94Asn	141800.0148	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN TITUSVILLE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys139Thr	141800.0149	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN TOKONAME	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Phe43Val	141800.0150	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN TORINO	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Gly59Val	141800.0151	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN TOTTORI	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Leu136Arg	141800.0152	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN TOYAMA||HEINZ BODY HEMOLYTIC ANEMIA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Leu113His	141800.0153	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN TWIN PEAKS	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asn68Asp	141800.0154	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN UBE-2	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Glu116Ala	141800.0155	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN UBE-4	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His122Gln	141800.0156	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN WESTMEAD	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp75Tyr	141800.0157	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN WINNIPEG	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp6Tyr	141800.0158	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN WOODVILLE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys11Gln	141800.0159	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN WUMING||HEMOGLOBIN J (WENCHANG-WUMING)	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys60Asn	141800.0160	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN ZAMBIA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys56Asn	141800.0161	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN BELLIARD	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala110Thr	141800.0162	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN TONOSHO	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp126Val	141800.0163	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN FUKUTOMI	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys56Arg	141800.0164	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN PORT HURON	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Val135Glu	141800.0166	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN PAVIE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ser131Pro	141800.0167	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN QUESTEMBERT	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Val1Glu	141800.0168	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN THIONVILLE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys40Met	141800.0169	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN KANAGAWA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys99Glu	141800.0170	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN TURRIFF	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His89Leu	141800.0172	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN LUTON	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala71Val	141800.0173	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN OZIERI	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Gly59Asp	141800.0174	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN ADANA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Gly18Asp	141800.0175	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN AL-AIN ABU DHABI	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His45Asp	141800.0176	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN POITIERS	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
79742	193804856	Disease	p.His45Asp	141800.0177	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	MOVED TO 141850.0062	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.His45Asp	141800.0177	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	MOVED TO 141850.0062	OMIM	No Domain	N/A	193804854,NP_789789
3039	57013850	Disease	p.Val132Gly	141800.0178	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN CAEN	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala130Asp	141800.0179	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN YUDA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp94Gly	141800.0180	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN CAPA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp126Tyr	141800.0181	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN MONTEFIORE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Tyr140His	141800.0182	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN ROUEN||HEMOGLOBIN ETHIOPIA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Pro114Ser	141800.0183	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN MELUSINE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Arg92Trp	141800.0185	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN CEMENELUM	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Tyr24Cys	141800.0186	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN RAMONA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys7Asn	141800.0187	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN TATRAS	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Glu23Asp	141800.0188	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN LISBON	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asp94Glu	141800.0189	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN ROANNE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala123Ser	141800.0190	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN MALHACEN	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Leu129Pro	141800.0191	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN TUNIS-BIZERTE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
79742	193804856	Disease	p.Leu129Pro	141800.0192	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	MOVED TO 141850.0068	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Leu129Pro	141800.0192	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	MOVED TO 141850.0068	OMIM	No Domain	N/A	193804854,NP_789789
3039	57013850	Disease	p.Ala65Val	141800.0193	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN BOIS GUILLAUME	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala79Thr	141800.0194	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN MANTES-LA-JOLIE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ala111Thr	141800.0195	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN MOSELLA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His72Tyr	141800.0196	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN FUCHU-I	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asn97His	141800.0197	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN FUCHU-II	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His72Gln	141800.0198	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN GOUDA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Pro95Thr	141800.0200	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN GODAVARI	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His45Pro	141800.0201	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN OITA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His103Tyr	141800.0203	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN CHAROLLES	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Val55Leu	141800.0204	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN ROUBAIX	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Ser3Phe	141800.0205	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN DOUALA	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Asn9Lys	141800.0208	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN DELFZICHT	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys40Asn	141800.0209	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN SARATOGA SPRINGS	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Val93Ala	141800.0210	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN DIE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Lys99Asn	141800.0211	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN BEZIERS	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His89Gln	141800.0212	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN BUFFALO	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His89Tyr	141800.0213	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN VILLEURBANNE	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His89Pro	141800.0214	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN TOKYO	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His89Arg	141800.0215	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN TAMANO	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Gly51Ser	141800.0216	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN RICCARTON	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.Cys104Ser	141800.0217	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN OEGSTGEEST	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
3039	57013850	Disease	p.His87Asn	141800.0220	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN AUCKLAND	OMIM	No Domain	N/A	4504345,NP_000508|4504347,NP_000549
79742	193804856	Disease	p.His87Asn	141800.9999	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN ALPHA VARIANTS, MOLECULAR DEFECT UNKNOWN	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.His87Asn	141800.9999	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141800	HEMOGLOBIN ALPHA VARIANTS, MOLECULAR DEFECT UNKNOWN	OMIM	No Domain	N/A	193804854,NP_789789
3250	262527547	Disease	p.Lys54Glu	140100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=140100	HAPTOGLOBIN, ALPHA-1, FAST-SLOW POLYMORPHISM	OMIM	No Domain	N/A	45580723,NP_066275
3250	262527547	Disease	p.Ile247Thr	140100.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=140100	ANHAPTOGLOBINEMIA	OMIM	268	cd00190	45580723,NP_066275
3250	262527547	Disease	p.Ile247Thr	140100.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=140100	ANHAPTOGLOBINEMIA	OMIM	226	pfam00089	45580723,NP_066275
3250	262527547	Disease	p.Ile247Thr	140100.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=140100	ANHAPTOGLOBINEMIA	OMIM	404	smart00020	45580723,NP_066275
2771	261878575	Disease	p.Arg179Gly	139360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	135	cd00878	NULL
2771	261878575	Disease	p.Arg179Gly	139360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	236	pfam00503	NULL
2771	261878575	Disease	p.Arg179Gly	139360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	385	cd00882	NULL
2771	261878575	Disease	p.Arg179Gly	139360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	391	smart00275	NULL
2771	261878575	Disease	p.Arg179Gly	139360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	532	cd00066	NULL
2771	121023	Disease	p.Arg179Gly	139360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	191	pfam00503	4504041,NP_002061
2771	121023	Disease	p.Arg179Gly	139360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	143	cd00882	4504041,NP_002061
2771	121023	Disease	p.Arg179Gly	139360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	450	cd00066	4504041,NP_002061
2771	121023	Disease	p.Arg179Gly	139360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	60	cd00878	4504041,NP_002061
2771	121023	Disease	p.Arg179Gly	139360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	331	smart00275	4504041,NP_002061
2771	261878575	Disease	p.Phe200Leu	139360.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360	VENTRICULAR TACHYCARDIA, SOMATIC	OMIM	150_G	cd00878	NULL
2771	261878575	Disease	p.Phe200Leu	139360.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360	VENTRICULAR TACHYCARDIA, SOMATIC	OMIM	258	pfam00503	NULL
2771	261878575	Disease	p.Phe200Leu	139360.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360	VENTRICULAR TACHYCARDIA, SOMATIC	OMIM	406	cd00882	NULL
2771	261878575	Disease	p.Phe200Leu	139360.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360	VENTRICULAR TACHYCARDIA, SOMATIC	OMIM	413	smart00275	NULL
2771	261878575	Disease	p.Phe200Leu	139360.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360	VENTRICULAR TACHYCARDIA, SOMATIC	OMIM	670	cd00066	NULL
2771	121023	Disease	p.Phe200Leu	139360.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360	VENTRICULAR TACHYCARDIA, SOMATIC	OMIM	220	pfam00503	4504041,NP_002061
2771	121023	Disease	p.Phe200Leu	139360.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360	VENTRICULAR TACHYCARDIA, SOMATIC	OMIM	302	cd00882	4504041,NP_002061
2771	121023	Disease	p.Phe200Leu	139360.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360	VENTRICULAR TACHYCARDIA, SOMATIC	OMIM	506	cd00066	4504041,NP_002061
2771	121023	Disease	p.Phe200Leu	139360.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360	VENTRICULAR TACHYCARDIA, SOMATIC	OMIM	117	cd00878	4504041,NP_002061
2771	121023	Disease	p.Phe200Leu	139360.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139360	VENTRICULAR TACHYCARDIA, SOMATIC	OMIM	371	smart00275	4504041,NP_002061
3848	238054406	Disease	p.Glu310Gln	139350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139350	EPIDERMOLYTIC HYPERKERATOSIS	OMIM	180	pfam00038	119395750,NP_006112
3848	238054406	Disease	p.Leu160Pro	139350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139350	EPIDERMOLYTIC HYPERKERATOSIS	OMIM	No Domain	N/A	119395750,NP_006112
3848	238054406	Disease	p.Tyr481Cys	139350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139350	EPIDERMOLYTIC HYPERKERATOSIS	OMIM	372	pfam00038	119395750,NP_006112
3848	238054406	Disease	p.Lys73Ile	139350.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139350	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC	OMIM	No Domain	N/A	119395750,NP_006112
3848	238054406	Disease	p.Ile479Thr	139350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139350	ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS	OMIM	370	pfam00038	119395750,NP_006112
3848	238054406	Disease	p.Ile479Phe	139350.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139350	ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS	OMIM	370	pfam00038	119395750,NP_006112
3848	238054406	Disease	p.Val155Asp	139350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139350	EPIDERMOLYTIC HYPERKERATOSIS	OMIM	No Domain	N/A	119395750,NP_006112
3848	238054406	Disease	p.Asn187Lys	139350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139350	EPIDERMOLYTIC HYPERKERATOSIS	OMIM	9	pfam00038	119395750,NP_006112
3848	238054406	Disease	p.Leu475Pro	139350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139350	EPIDERMOLYTIC HYPERKERATOSIS	OMIM	366	pfam00038	119395750,NP_006112
2779	121032	Disease	p.Gly38Asp	139330.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139330	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3	OMIM	5	cd00882	22027520,NP_000163|22027522,NP_653082
2779	121032	Disease	p.Gly38Asp	139330.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139330	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3	OMIM	9	cd00066	22027520,NP_000163|22027522,NP_653082
2779	121032	Disease	p.Gly38Asp	139330.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139330	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3	OMIM	46	smart00275	22027520,NP_000163|22027522,NP_653082
2779	121032	Disease	p.Gly38Asp	139330.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139330	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3	OMIM	39	pfam00503	22027520,NP_000163|22027522,NP_653082
2779	121032	Disease	p.Gly38Asp	139330.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139330	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3	OMIM	5	cd00882	22027520,NP_000163|22027522,NP_653082
2779	121032	Disease	p.Gly38Asp	139330.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139330	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3	OMIM	9	cd00066	22027520,NP_000163|22027522,NP_653082
2779	121032	Disease	p.Gly38Asp	139330.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139330	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3	OMIM	46	smart00275	22027520,NP_000163|22027522,NP_653082
2779	121032	Disease	p.Gly38Asp	139330.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139330	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3	OMIM	39	pfam00503	22027520,NP_000163|22027522,NP_653082
2778	74706023	Disease	p.Met1Val	139320.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	No Domain	N/A	7706589,NP_057676
2778	116248089	Disease	p.Met1Val	139320.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	No Domain	N/A	117938759,NP_536350
2778	117938765	Disease	p.Met1Val	139320.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	No Domain	N/A	NULL
2778	117938762	Disease	p.Met1Val	139320.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	No Domain	N/A	NULL
2778	18426900	Disease	p.Met1Val	139320.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	No Domain	N/A	NULL
2778	116242967	Disease	p.Met1Val	139320.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	No Domain	N/A	117938768,NP_001070958
2778	52000961	Disease	p.Met1Val	139320.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	No Domain	N/A	4504047,NP_000507
2778	74706023	Disease	p.Leu99Pro	139320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	103	pfam06390	7706589,NP_057676
2778	116248089	Disease	p.Leu99Pro	139320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	No Domain	N/A	117938759,NP_536350
2778	117938765	Disease	p.Leu99Pro	139320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	56	cd00882	NULL
2778	117938765	Disease	p.Leu99Pro	139320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	89	pfam00503	NULL
2778	117938765	Disease	p.Leu99Pro	139320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	129	cd00066	NULL
2778	117938765	Disease	p.Leu99Pro	139320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	99	smart00275	NULL
2778	117938762	Disease	p.Leu99Pro	139320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	40	cd00882	NULL
2778	117938762	Disease	p.Leu99Pro	139320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	73	pfam00503	NULL
2778	117938762	Disease	p.Leu99Pro	139320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	113	cd00066	NULL
2778	117938762	Disease	p.Leu99Pro	139320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	82	smart00275	NULL
2778	18426900	Disease	p.Leu99Pro	139320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	55	cd00882	NULL
2778	18426900	Disease	p.Leu99Pro	139320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	88	pfam00503	NULL
2778	18426900	Disease	p.Leu99Pro	139320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	128	cd00066	NULL
2778	18426900	Disease	p.Leu99Pro	139320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	98	smart00275	NULL
2778	116242967	Disease	p.Leu99Pro	139320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	No Domain	N/A	117938768,NP_001070958
2778	52000961	Disease	p.Leu99Pro	139320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	41	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Leu99Pro	139320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	74	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Leu99Pro	139320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	114	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Leu99Pro	139320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	83	smart00275	4504047,NP_000507
2778	74706023	Disease	p.Cys165Arg	139320.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	176	pfam06390	7706589,NP_057676
2778	116248089	Disease	p.Cys165Arg	139320.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	No Domain	N/A	117938759,NP_536350
2778	117938765	Disease	p.Cys165Arg	139320.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	122	cd00882	NULL
2778	117938765	Disease	p.Cys165Arg	139320.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	170	pfam00503	NULL
2778	117938765	Disease	p.Cys165Arg	139320.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	420	cd00066	NULL
2778	117938765	Disease	p.Cys165Arg	139320.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	310	smart00275	NULL
2778	117938762	Disease	p.Cys165Arg	139320.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	106	cd00882	NULL
2778	117938762	Disease	p.Cys165Arg	139320.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	150	pfam00503	NULL
2778	117938762	Disease	p.Cys165Arg	139320.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	384	cd00066	NULL
2778	117938762	Disease	p.Cys165Arg	139320.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	264	smart00275	NULL
2778	18426900	Disease	p.Cys165Arg	139320.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	121	cd00882	NULL
2778	18426900	Disease	p.Cys165Arg	139320.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	169	pfam00503	NULL
2778	18426900	Disease	p.Cys165Arg	139320.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	419	cd00066	NULL
2778	18426900	Disease	p.Cys165Arg	139320.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	309	smart00275	NULL
2778	116242967	Disease	p.Cys165Arg	139320.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	No Domain	N/A	117938768,NP_001070958
2778	52000961	Disease	p.Cys165Arg	139320.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	107	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Cys165Arg	139320.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	151	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Cys165Arg	139320.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	385	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Cys165Arg	139320.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	267	smart00275	4504047,NP_000507
2778	74706023	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	243	pfam06390	7706589,NP_057676
2778	116248089	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	No Domain	N/A	117938759,NP_536350
2778	117938765	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	96	cd04160	NULL
2778	117938765	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	389	cd00882	NULL
2778	117938765	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	241	pfam00503	NULL
2778	117938765	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	542	cd00066	NULL
2778	117938765	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	396	smart00275	NULL
2778	117938762	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	80	cd04160	NULL
2778	117938762	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	306	cd00882	NULL
2778	117938762	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	224	pfam00503	NULL
2778	117938762	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	510	cd00066	NULL
2778	117938762	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	375	smart00275	NULL
2778	18426900	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	95	cd04160	NULL
2778	18426900	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	388	cd00882	NULL
2778	18426900	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	240	pfam00503	NULL
2778	18426900	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	541	cd00066	NULL
2778	18426900	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	395	smart00275	NULL
2778	116242967	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	No Domain	N/A	117938768,NP_001070958
2778	52000961	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	307	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	225	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	81	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	511	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Gln227His	139320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC	OMIM	376	smart00275	4504047,NP_000507
2778	74706023	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	No Domain	N/A	7706589,NP_057676
2778	116248089	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	No Domain	N/A	117938759,NP_536350
2778	117938765	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	120	cd04160	NULL
2778	117938765	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	488	cd00882	NULL
2778	117938765	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	266	pfam00503	NULL
2778	117938765	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	676	cd00066	NULL
2778	117938765	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	453	smart00275	NULL
2778	117938762	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	103	cd04160	NULL
2778	117938762	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	396	cd00882	NULL
2778	117938762	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	248	pfam00503	NULL
2778	117938762	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	549	cd00066	NULL
2778	117938762	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	403	smart00275	NULL
2778	18426900	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	119	cd04160	NULL
2778	18426900	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	411	cd00882	NULL
2778	18426900	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	265	pfam00503	NULL
2778	18426900	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	675	cd00066	NULL
2778	18426900	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	452	smart00275	NULL
2778	116242967	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	No Domain	N/A	117938768,NP_001070958
2778	52000961	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	397	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	249	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	104	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	550	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Ser250Arg	139320.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	404	smart00275	4504047,NP_000507
2778	74706023	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	No Domain	N/A	7706589,NP_057676
2778	116248089	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	No Domain	N/A	117938759,NP_536350
2778	117938765	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	128	cd04160	NULL
2778	117938765	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	496	cd00882	NULL
2778	117938765	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	274	pfam00503	NULL
2778	117938765	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	684	cd00066	NULL
2778	117938765	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	461	smart00275	NULL
2778	117938762	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	112	cd04160	NULL
2778	117938762	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	404	cd00882	NULL
2778	117938762	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	256	pfam00503	NULL
2778	117938762	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	557	cd00066	NULL
2778	117938762	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	411	smart00275	NULL
2778	18426900	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	127	cd04160	NULL
2778	18426900	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	495	cd00882	NULL
2778	18426900	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	273	pfam00503	NULL
2778	18426900	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	683	cd00066	NULL
2778	18426900	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	460	smart00275	NULL
2778	116242967	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	No Domain	N/A	117938768,NP_001070958
2778	52000961	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	405	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	257	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	113	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	669	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Arg258Trp	139320.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	412	smart00275	4504047,NP_000507
2778	74706023	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	No Domain	N/A	7706589,NP_057676
2778	116248089	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	No Domain	N/A	117938759,NP_536350
2778	117938765	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	128	cd04160	NULL
2778	117938765	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	496	cd00882	NULL
2778	117938765	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	274	pfam00503	NULL
2778	117938765	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	684	cd00066	NULL
2778	117938765	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	461	smart00275	NULL
2778	117938762	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	112	cd04160	NULL
2778	117938762	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	404	cd00882	NULL
2778	117938762	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	256	pfam00503	NULL
2778	117938762	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	557	cd00066	NULL
2778	117938762	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	411	smart00275	NULL
2778	18426900	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	127	cd04160	NULL
2778	18426900	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	495	cd00882	NULL
2778	18426900	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	273	pfam00503	NULL
2778	18426900	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	683	cd00066	NULL
2778	18426900	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	460	smart00275	NULL
2778	116242967	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	No Domain	N/A	117938768,NP_001070958
2778	52000961	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	405	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	257	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	113	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	669	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Arg258Ala	139320.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	412	smart00275	4504047,NP_000507
2778	74706023	Disease	p.Gln170Ala	139320.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	181	pfam06390	7706589,NP_057676
2778	116248089	Disease	p.Gln170Ala	139320.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	No Domain	N/A	117938759,NP_536350
2778	117938765	Disease	p.Gln170Ala	139320.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	127	cd00882	NULL
2778	117938765	Disease	p.Gln170Ala	139320.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	175	pfam00503	NULL
2778	117938765	Disease	p.Gln170Ala	139320.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	434	cd00066	NULL
2778	117938765	Disease	p.Gln170Ala	139320.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	315	smart00275	NULL
2778	117938762	Disease	p.Gln170Ala	139320.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	111	cd00882	NULL
2778	117938762	Disease	p.Gln170Ala	139320.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	158	pfam00503	NULL
2778	117938762	Disease	p.Gln170Ala	139320.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	389	cd00066	NULL
2778	117938762	Disease	p.Gln170Ala	139320.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	271	smart00275	NULL
2778	18426900	Disease	p.Gln170Ala	139320.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	126	cd00882	NULL
2778	18426900	Disease	p.Gln170Ala	139320.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	174	pfam00503	NULL
2778	18426900	Disease	p.Gln170Ala	139320.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	433	cd00066	NULL
2778	18426900	Disease	p.Gln170Ala	139320.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	314	smart00275	NULL
2778	116242967	Disease	p.Gln170Ala	139320.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	No Domain	N/A	117938768,NP_001070958
2778	52000961	Disease	p.Gln170Ala	139320.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	112	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Gln170Ala	139320.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	160	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Gln170Ala	139320.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	400	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Gln170Ala	139320.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM	OMIM	275	smart00275	4504047,NP_000507
2778	74706023	Disease	p.Ala366Ser	139320.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	OMIM	No Domain	N/A	7706589,NP_057676
2778	116248089	Disease	p.Ala366Ser	139320.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	OMIM	No Domain	N/A	117938759,NP_536350
2778	117938765	Disease	p.Ala366Ser	139320.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	OMIM	394	pfam00503	NULL
2778	117938765	Disease	p.Ala366Ser	139320.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	OMIM	845	cd00066	NULL
2778	117938765	Disease	p.Ala366Ser	139320.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	OMIM	585	smart00275	NULL
2778	117938762	Disease	p.Ala366Ser	139320.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	OMIM	635	cd00882	NULL
2778	117938762	Disease	p.Ala366Ser	139320.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	OMIM	378	pfam00503	NULL
2778	117938762	Disease	p.Ala366Ser	139320.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	OMIM	819	cd00066	NULL
2778	117938762	Disease	p.Ala366Ser	139320.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	OMIM	568	smart00275	NULL
2778	18426900	Disease	p.Ala366Ser	139320.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	OMIM	761	cd00882	NULL
2778	18426900	Disease	p.Ala366Ser	139320.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	OMIM	393	pfam00503	NULL
2778	18426900	Disease	p.Ala366Ser	139320.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	OMIM	844	cd00066	NULL
2778	18426900	Disease	p.Ala366Ser	139320.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	OMIM	584	smart00275	NULL
2778	116242967	Disease	p.Ala366Ser	139320.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	OMIM	No Domain	N/A	117938768,NP_001070958
2778	52000961	Disease	p.Ala366Ser	139320.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	OMIM	636	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Ala366Ser	139320.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	OMIM	379	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Ala366Ser	139320.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	OMIM	820	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Ala366Ser	139320.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	OMIM	570	smart00275	4504047,NP_000507
2778	74706023	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	247	pfam06390	7706589,NP_057676
2778	116248089	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	No Domain	N/A	117938759,NP_536350
2778	117938765	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	100	cd04160	NULL
2778	117938765	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	393	cd00882	NULL
2778	117938765	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	245	pfam00503	NULL
2778	117938765	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	546	cd00066	NULL
2778	117938765	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	400	smart00275	NULL
2778	117938762	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	84	cd04160	NULL
2778	117938762	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	310	cd00882	NULL
2778	117938762	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	228	pfam00503	NULL
2778	117938762	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	524	cd00066	NULL
2778	117938762	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	379	smart00275	NULL
2778	18426900	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	99	cd04160	NULL
2778	18426900	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	392	cd00882	NULL
2778	18426900	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	244	pfam00503	NULL
2778	18426900	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	545	cd00066	NULL
2778	18426900	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	399	smart00275	NULL
2778	116242967	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	No Domain	N/A	117938768,NP_001070958
2778	52000961	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	311	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	229	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	85	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	525	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Arg231His	139320.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	380	smart00275	4504047,NP_000507
2778	74706023	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	214	pfam06390	7706589,NP_057676
2778	116248089	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	No Domain	N/A	117938759,NP_536350
2778	117938765	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	70	cd04160	NULL
2778	117938765	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	296	cd00882	NULL
2778	117938765	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	214	pfam00503	NULL
2778	117938765	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	500	cd00066	NULL
2778	117938765	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	346	smart00275	NULL
2778	117938762	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	45	cd04160	NULL
2778	117938762	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	142	cd00882	NULL
2778	117938762	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	190	pfam00503	NULL
2778	117938762	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	449	cd00066	NULL
2778	117938762	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	330	smart00275	NULL
2778	18426900	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	61	cd04160	NULL
2778	18426900	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	158	cd00882	NULL
2778	18426900	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	213	pfam00503	NULL
2778	18426900	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	466	cd00066	NULL
2778	18426900	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	345	smart00275	NULL
2778	116242967	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	No Domain	N/A	117938768,NP_001070958
2778	52000961	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	143	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	191	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	46	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	450	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Arg201Gly	139320.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC	OMIM	331	smart00275	4504047,NP_000507
2778	74706023	Disease	p.Pro115Leu	139320.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM||PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	122	pfam06390	7706589,NP_057676
2778	116248089	Disease	p.Pro115Leu	139320.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM||PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	No Domain	N/A	117938759,NP_536350
2778	117938765	Disease	p.Pro115Leu	139320.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM||PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	72	cd00882	NULL
2778	117938765	Disease	p.Pro115Leu	139320.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM||PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	108	pfam00503	NULL
2778	117938765	Disease	p.Pro115Leu	139320.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM||PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	302	cd00066	NULL
2778	117938765	Disease	p.Pro115Leu	139320.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM||PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	123	smart00275	NULL
2778	117938762	Disease	p.Pro115Leu	139320.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM||PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	56	cd00882	NULL
2778	117938762	Disease	p.Pro115Leu	139320.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM||PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	89	pfam00503	NULL
2778	117938762	Disease	p.Pro115Leu	139320.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM||PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	129	cd00066	NULL
2778	117938762	Disease	p.Pro115Leu	139320.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM||PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	99	smart00275	NULL
2778	18426900	Disease	p.Pro115Leu	139320.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM||PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	71	cd00882	NULL
2778	18426900	Disease	p.Pro115Leu	139320.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM||PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	107	pfam00503	NULL
2778	18426900	Disease	p.Pro115Leu	139320.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM||PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	301	cd00066	NULL
2778	18426900	Disease	p.Pro115Leu	139320.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM||PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	122	smart00275	NULL
2778	116242967	Disease	p.Pro115Leu	139320.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM||PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	No Domain	N/A	117938768,NP_001070958
2778	52000961	Disease	p.Pro115Leu	139320.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM||PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	57	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Pro115Leu	139320.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM||PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	90	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Pro115Leu	139320.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM||PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	130	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Pro115Leu	139320.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PSEUDOPSEUDOHYPOPARATHYROIDISM||PSEUDOHYPOPARATHYROIDISM, TYPE IA	OMIM	100	smart00275	4504047,NP_000507
79742	193804856	Disease	p.Pro115Leu	139320.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Pro115Leu	139320.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
2778	74706023	Disease	p.Pro161Arg	139320.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION	OMIM	172	pfam06390	7706589,NP_057676
2778	116248089	Disease	p.Pro161Arg	139320.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION	OMIM	No Domain	N/A	117938759,NP_536350
2778	117938765	Disease	p.Pro161Arg	139320.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION	OMIM	118	cd00882	NULL
2778	117938765	Disease	p.Pro161Arg	139320.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION	OMIM	166	pfam00503	NULL
2778	117938765	Disease	p.Pro161Arg	139320.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION	OMIM	416	cd00066	NULL
2778	117938765	Disease	p.Pro161Arg	139320.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION	OMIM	306	smart00275	NULL
2778	117938762	Disease	p.Pro161Arg	139320.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION	OMIM	102	cd00882	NULL
2778	117938762	Disease	p.Pro161Arg	139320.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION	OMIM	146	pfam00503	NULL
2778	117938762	Disease	p.Pro161Arg	139320.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION	OMIM	380	cd00066	NULL
2778	117938762	Disease	p.Pro161Arg	139320.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION	OMIM	260	smart00275	NULL
2778	18426900	Disease	p.Pro161Arg	139320.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION	OMIM	117	cd00882	NULL
2778	18426900	Disease	p.Pro161Arg	139320.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION	OMIM	165	pfam00503	NULL
2778	18426900	Disease	p.Pro161Arg	139320.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION	OMIM	415	cd00066	NULL
2778	18426900	Disease	p.Pro161Arg	139320.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION	OMIM	305	smart00275	NULL
2778	116242967	Disease	p.Pro161Arg	139320.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION	OMIM	No Domain	N/A	117938768,NP_001070958
2778	52000961	Disease	p.Pro161Arg	139320.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION	OMIM	103	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Pro161Arg	139320.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION	OMIM	147	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Pro161Arg	139320.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION	OMIM	381	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Pro161Arg	139320.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139320	PROLONGED BLEEDING TIME, BRACHYDACTYLY, AND MENTAL RETARDATION	OMIM	261	smart00275	4504047,NP_000507
2766	544455	Disease	p.Phe256Ile	139265.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139265	GMP REDUCTASE POLYMORPHISM	OMIM	130	COG0516	156104880,NP_006868
2766	544455	Disease	p.Phe256Ile	139265.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139265	GMP REDUCTASE POLYMORPHISM	OMIM	432	pfam00478	156104880,NP_006868
2766	544455	Disease	p.Phe256Ile	139265.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139265	GMP REDUCTASE POLYMORPHISM	OMIM	435	cd00381	156104880,NP_006868
2688	13027816	Disease	p.Arg77Cys	139250.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250	KOWARSKI SYNDROME	OMIM	110	pfam00103	NULL
2688	134703	Disease	p.Arg77Cys	139250.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250	KOWARSKI SYNDROME	OMIM	70	pfam00103	13027812,NP_000506
2688	13027818	Disease	p.Arg77Cys	139250.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250	KOWARSKI SYNDROME	OMIM	171	pfam00103	NULL
2688	13027814	Disease	p.Arg77Cys	139250.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250	KOWARSKI SYNDROME	OMIM	85	pfam00103	NULL
2688	13027820	Disease	p.Arg77Cys	139250.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250	KOWARSKI SYNDROME	OMIM	No Domain	N/A	NULL
2688	13027816	Disease	p.Asp112Gly	139250.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250	KOWARSKI SYNDROME	OMIM	151	pfam00103	NULL
2688	134703	Disease	p.Asp112Gly	139250.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250	KOWARSKI SYNDROME	OMIM	105	pfam00103	13027812,NP_000506
2688	13027818	Disease	p.Asp112Gly	139250.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250	KOWARSKI SYNDROME	OMIM	208	pfam00103	NULL
2688	13027814	Disease	p.Asp112Gly	139250.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250	KOWARSKI SYNDROME	OMIM	126	pfam00103	NULL
2688	13027820	Disease	p.Asp112Gly	139250.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250	KOWARSKI SYNDROME	OMIM	No Domain	N/A	NULL
2688	13027816	Disease	p.Cys53Ser	139250.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250	KOWARSKI SYNDROME	OMIM	37	pfam00103	NULL
2688	134703	Disease	p.Cys53Ser	139250.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250	KOWARSKI SYNDROME	OMIM	37	pfam00103	13027812,NP_000506
2688	13027818	Disease	p.Cys53Ser	139250.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250	KOWARSKI SYNDROME	OMIM	37	pfam00103	NULL
2688	13027814	Disease	p.Cys53Ser	139250.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250	KOWARSKI SYNDROME	OMIM	37	pfam00103	NULL
2688	13027820	Disease	p.Cys53Ser	139250.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250	KOWARSKI SYNDROME	OMIM	No Domain	N/A	NULL
2688	13027816	Disease	p.Arg183His	139250.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II	OMIM	No Domain	N/A	NULL
2688	134703	Disease	p.Arg183His	139250.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II	OMIM	184	pfam00103	13027812,NP_000506
2688	13027818	Disease	p.Arg183His	139250.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II	OMIM	No Domain	N/A	NULL
2688	13027814	Disease	p.Arg183His	139250.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II	OMIM	199	pfam00103	NULL
2688	13027820	Disease	p.Arg183His	139250.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139250	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II	OMIM	No Domain	N/A	NULL
2638	32483410	Disease	p.Thr420Lys	139200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139200	GC1/GC2 POLYMORPHISM	OMIM	16	pfam09164	NULL
2638	32483410	Disease	p.Asp416Glu	139200.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139200	GC1/GC2 POLYMORPHISM	OMIM	12	pfam09164	NULL
2692	3041685	Disease	p.Leu144His	139191.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139191	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB	OMIM	20	pfam00002	58530851,NP_000814
2692	3041685	Disease	p.Phe242Cys	139191.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139191	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB	OMIM	162	pfam00002	58530851,NP_000814
2692	3041685	Disease	p.Ala222Glu	139191.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139191	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB	OMIM	136	pfam00002	58530851,NP_000814
2692	3041685	Disease	p.Lys329Glu	139191.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139191	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB	OMIM	319	pfam00002	58530851,NP_000814
8831	150421676	Disease	p.Cys540Tyr	139150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139150	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION	OMIM	237	cd05137	194248068,NP_006763
8831	150421676	Disease	p.Cys540Tyr	139150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139150	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION	OMIM	92	cd05132	194248068,NP_006763
8831	150421676	Disease	p.Cys540Tyr	139150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139150	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION	OMIM	113	cd05127	194248068,NP_006763
8831	150421676	Disease	p.Cys540Tyr	139150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139150	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION	OMIM	361	pfam00616	194248068,NP_006763
8831	150421676	Disease	p.Cys540Tyr	139150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139150	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION	OMIM	206	smart00323	194248068,NP_006763
8831	150421676	Disease	p.Cys540Tyr	139150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139150	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION	OMIM	161	cd05134	194248068,NP_006763
8831	150421676	Disease	p.Cys540Tyr	139150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139150	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION	OMIM	135	cd05130	194248068,NP_006763
8831	150421676	Disease	p.Cys540Tyr	139150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139150	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION	OMIM	130	cd05394	194248068,NP_006763
8831	150421676	Disease	p.Cys540Tyr	139150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139150	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION	OMIM	165	cd05392	194248068,NP_006763
8831	150421676	Disease	p.Cys540Tyr	139150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139150	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION	OMIM	129	cd05136	194248068,NP_006763
8831	150421676	Disease	p.Cys540Tyr	139150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139150	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION	OMIM	256	cd04519	194248068,NP_006763
8831	150421676	Disease	p.Cys540Tyr	139150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139150	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION	OMIM	125	cd05391	194248068,NP_006763
8831	150421676	Disease	p.Cys540Tyr	139150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139150	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION	OMIM	147	cd05135	194248068,NP_006763
8831	150421676	Disease	p.Cys540Tyr	139150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139150	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION	OMIM	174	cd05128	194248068,NP_006763
8831	150421676	Disease	p.Cys540Tyr	139150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=139150	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION	OMIM	147	cd05395	194248068,NP_006763
1441	27437045	Disease	p.Thr617Asn	138971.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138971	NEUTROPHILIA, HEREDITARY	OMIM	192	cd00063	NULL
1441	729564	Disease	p.Thr617Asn	138971.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138971	NEUTROPHILIA, HEREDITARY	OMIM	192	cd00063	4503081,NP_000751
1441	24496783	Disease	p.Thr617Asn	138971.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138971	NEUTROPHILIA, HEREDITARY	OMIM	192	cd00063	NULL
2896	77416865	Disease	p.Met1Thr	138945.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138945	FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS	OMIM	No Domain	N/A	4504151,NP_002078
2896	77416865	Disease	p.Met1Ile	138945.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138945	FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS	OMIM	No Domain	N/A	4504151,NP_002078
2896	77416865	Disease	p.Ala9Asp	138945.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138945	FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS	OMIM	No Domain	N/A	4504151,NP_002078
2798	61676184	Disease	p.Gln106Arg	138850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM||FERTILE EUNUCH SYNDROME	OMIM	No Domain	N/A	NULL
2798	399777	Disease	p.Gln106Arg	138850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM||FERTILE EUNUCH SYNDROME	OMIM	55	pfam00001	4504059,NP_000397
2798	61676184	Disease	p.Arg262Gln	138850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2798	399777	Disease	p.Arg262Gln	138850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	361	pfam00001	4504059,NP_000397
2798	61676184	Disease	p.Tyr284Cys	138850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2798	399777	Disease	p.Tyr284Cys	138850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	383	pfam00001	4504059,NP_000397
2798	61676184	Disease	p.Ala129Asp	138850.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2798	399777	Disease	p.Ala129Asp	138850.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	pfam00001	4504059,NP_000397
2798	61676184	Disease	p.Ser217Arg	138850.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2798	399777	Disease	p.Ser217Arg	138850.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	186	pfam00001	4504059,NP_000397
2798	61676184	Disease	p.Ser168Arg	138850.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2798	399777	Disease	p.Ser168Arg	138850.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	125	pfam00001	4504059,NP_000397
2798	61676184	Disease	p.Arg139His	138850.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2798	399777	Disease	p.Arg139His	138850.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	92	pfam00001	4504059,NP_000397
2798	61676184	Disease	p.Asn10Lys	138850.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2798	399777	Disease	p.Asn10Lys	138850.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	4504059,NP_000397
2798	61676184	Disease	p.Glu90Lys	138850.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2798	399777	Disease	p.Glu90Lys	138850.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	31	pfam00001	4504059,NP_000397
2798	61676184	Disease	p.Ala171Thr	138850.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2798	399777	Disease	p.Ala171Thr	138850.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	128	pfam00001	4504059,NP_000397
2798	61676184	Disease	p.Gln11Lys	138850.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2798	399777	Disease	p.Gln11Lys	138850.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	4504059,NP_000397
2798	61676184	Disease	p.Pro320Leu	138850.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2798	399777	Disease	p.Pro320Leu	138850.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138850	HYPOGONADOTROPIC HYPOGONADISM	OMIM	427	pfam00001	4504059,NP_000397
2739	134039205	Disease	p.Ala111Glu	138750.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138750	AUTISM, SUSCEPTIBILITY TO	OMIM	111	cd07233	118402586,NP_006699
2739	134039205	Disease	p.Ala111Glu	138750.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138750	AUTISM, SUSCEPTIBILITY TO	OMIM	112	cd06587	118402586,NP_006699
2739	134039205	Disease	p.Ala111Glu	138750.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138750	AUTISM, SUSCEPTIBILITY TO	OMIM	94_G	cd07245	118402586,NP_006699
2739	134039205	Disease	p.Ala111Glu	138750.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138750	AUTISM, SUSCEPTIBILITY TO	OMIM	111	cd08346	118402586,NP_006699
2739	134039205	Disease	p.Ala111Glu	138750.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138750	AUTISM, SUSCEPTIBILITY TO	OMIM	123	COG0346	118402586,NP_006699
2739	134039205	Disease	p.Ala111Glu	138750.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138750	AUTISM, SUSCEPTIBILITY TO	OMIM	96	pfam00903	118402586,NP_006699
2812	121532	Disease	p.Tyr88Cys	138720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138720	MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE	OMIM	No Domain	N/A	4504073,NP_000398
2812	121532	Disease	p.Ala108Pro	138720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138720	MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE	OMIM	23	smart00082	4504073,NP_000398
350	543826	Disease	p.Val247Leu	138700.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138700	APOH POLYMORPHISM	OMIM	72	cd00033	153266841,NP_000033
350	543826	Disease	p.Val247Leu	138700.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138700	APOH POLYMORPHISM	OMIM	86	smart00032	153266841,NP_000033
350	543826	Disease	p.Val247Leu	138700.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138700	APOH POLYMORPHISM	OMIM	71	pfam00084	153266841,NP_000033
197	156523970	Disease	p.Thr230Met	138680.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138680	LEANNESS, SUSCEPTIBILITY TO	OMIM	161	smart00043	NULL
197	156523970	Disease	p.Thr230Met	138680.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138680	LEANNESS, SUSCEPTIBILITY TO	OMIM	109	cd00042	NULL
197	156523970	Disease	p.Thr230Met	138680.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138680	LEANNESS, SUSCEPTIBILITY TO	OMIM	100	pfam00031	NULL
197	156523970	Disease	p.Thr238Ser	138680.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138680	LEANNESS, SUSCEPTIBILITY TO	OMIM	169	smart00043	NULL
197	156523970	Disease	p.Thr238Ser	138680.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138680	LEANNESS, SUSCEPTIBILITY TO	OMIM	117	cd00042	NULL
197	156523970	Disease	p.Thr238Ser	138680.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138680	LEANNESS, SUSCEPTIBILITY TO	OMIM	108	pfam00031	NULL
2998	288558811	Disease	p.Pro479Gln	138571.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138571	GLYCOGEN STORAGE DISEASE 0, LIVER	OMIM	488	cd03793	119372286,NP_068776
2998	288558811	Disease	p.Pro479Gln	138571.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138571	GLYCOGEN STORAGE DISEASE 0, LIVER	OMIM	481	pfam05693	119372286,NP_068776
2998	288558811	Disease	p.Pro479Gln	138571.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138571	GLYCOGEN STORAGE DISEASE 0, LIVER	OMIM	690	cd01635	119372286,NP_068776
2998	288558811	Disease	p.Ala339Pro	138571.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138571	GLYCOGEN STORAGE DISEASE 0, LIVER	OMIM	333	cd03793	119372286,NP_068776
2998	288558811	Disease	p.Ala339Pro	138571.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138571	GLYCOGEN STORAGE DISEASE 0, LIVER	OMIM	326	pfam05693	119372286,NP_068776
2998	288558811	Disease	p.Ala339Pro	138571.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138571	GLYCOGEN STORAGE DISEASE 0, LIVER	OMIM	540	cd01635	119372286,NP_068776
2998	288558811	Disease	p.Met491Arg	138571.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138571	GLYCOGEN STORAGE DISEASE 0, LIVER	OMIM	500	cd03793	119372286,NP_068776
2998	288558811	Disease	p.Met491Arg	138571.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138571	GLYCOGEN STORAGE DISEASE 0, LIVER	OMIM	493	pfam05693	119372286,NP_068776
2998	288558811	Disease	p.Met491Arg	138571.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138571	GLYCOGEN STORAGE DISEASE 0, LIVER	OMIM	707	cd01635	119372286,NP_068776
2998	288558811	Disease	p.Asn39Ser	138571.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138571	GLYCOGEN STORAGE DISEASE 0, LIVER	OMIM	13	cd03793	119372286,NP_068776
2998	288558811	Disease	p.Asn39Ser	138571.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138571	GLYCOGEN STORAGE DISEASE 0, LIVER	OMIM	8	pfam05693	119372286,NP_068776
2998	288558811	Disease	p.Asn39Ser	138571.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138571	GLYCOGEN STORAGE DISEASE 0, LIVER	OMIM	7	cd01635	119372286,NP_068776
2998	288558811	Disease	p.Ser483Pro	138571.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138571	GLYCOGEN STORAGE DISEASE 0, LIVER	OMIM	492	cd03793	119372286,NP_068776
2998	288558811	Disease	p.Ser483Pro	138571.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138571	GLYCOGEN STORAGE DISEASE 0, LIVER	OMIM	485	pfam05693	119372286,NP_068776
2998	288558811	Disease	p.Ser483Pro	138571.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138571	GLYCOGEN STORAGE DISEASE 0, LIVER	OMIM	694	cd01635	119372286,NP_068776
2998	288558811	Disease	p.His446Asp	138571.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138571	GLYCOGEN STORAGE DISEASE 0, LIVER	OMIM	455	cd03793	119372286,NP_068776
2998	288558811	Disease	p.His446Asp	138571.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138571	GLYCOGEN STORAGE DISEASE 0, LIVER	OMIM	448	pfam05693	119372286,NP_068776
2998	288558811	Disease	p.His446Asp	138571.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138571	GLYCOGEN STORAGE DISEASE 0, LIVER	OMIM	657	cd01635	119372286,NP_068776
2743	1346173	Disease	p.Gly229Asp	138492.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138492	HYPEREKPLEXIA, AUTOSOMAL RECESSIVE	OMIM	258	pfam02931	260593684,NP_001159532|4504023,NP_000815
2743	260593686	Disease	p.Gly229Asp	138492.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138492	HYPEREKPLEXIA, AUTOSOMAL RECESSIVE	OMIM	258	pfam02931	NULL
2743	1346173	Disease	p.Gly229Asp	138492.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138492	HYPEREKPLEXIA, AUTOSOMAL RECESSIVE	OMIM	258	pfam02931	260593684,NP_001159532|4504023,NP_000815
2741	119372310	Disease	p.Arg271Leu	138491.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA, AUTOSOMAL DOMINANT	OMIM	17	pfam02932	NULL
2741	116242495	Disease	p.Arg271Leu	138491.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA, AUTOSOMAL DOMINANT	OMIM	17	pfam02932	225903367,NP_001139512
2741	119372310	Disease	p.Arg271Gln	138491.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA, AUTOSOMAL DOMINANT	OMIM	17	pfam02932	NULL
2741	116242495	Disease	p.Arg271Gln	138491.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA, AUTOSOMAL DOMINANT	OMIM	17	pfam02932	225903367,NP_001139512
2741	119372310	Disease	p.Ile244Asn	138491.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA, AUTOSOMAL RECESSIVE	OMIM	314	pfam02931	NULL
2741	116242495	Disease	p.Ile244Asn	138491.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA, AUTOSOMAL RECESSIVE	OMIM	314	pfam02931	225903367,NP_001139512
2741	119372310	Disease	p.Tyr279Cys	138491.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA, AUTOSOMAL DOMINANT	OMIM	25	pfam02932	NULL
2741	116242495	Disease	p.Tyr279Cys	138491.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA, AUTOSOMAL DOMINANT	OMIM	25	pfam02932	225903367,NP_001139512
2741	119372310	Disease	p.Gln266His	138491.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA, AUTOSOMAL DOMINANT	OMIM	12	pfam02932	NULL
2741	116242495	Disease	p.Gln266His	138491.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA, AUTOSOMAL DOMINANT	OMIM	12	pfam02932	225903367,NP_001139512
2741	119372310	Disease	p.Lys276Glu	138491.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA AND SPASTIC PARAPARESIS	OMIM	22	pfam02932	NULL
2741	116242495	Disease	p.Lys276Glu	138491.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA AND SPASTIC PARAPARESIS	OMIM	22	pfam02932	225903367,NP_001139512
2741	119372310	Disease	p.Pro250Thr	138491.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
2741	116242495	Disease	p.Pro250Thr	138491.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	225903367,NP_001139512
2741	119372310	Disease	p.Met147Val	138491.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA, AUTOSOMAL RECESSIVE	OMIM	137	pfam02931	NULL
2741	116242495	Disease	p.Met147Val	138491.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA, AUTOSOMAL RECESSIVE	OMIM	137	pfam02931	225903367,NP_001139512
2741	119372310	Disease	p.Val260Met	138491.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA, AUTOSOMAL DOMINANT	OMIM	6	pfam02932	NULL
2741	116242495	Disease	p.Val260Met	138491.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA, AUTOSOMAL DOMINANT	OMIM	6	pfam02932	225903367,NP_001139512
2741	119372310	Disease	p.Ser231Arg	138491.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA, AUTOSOMAL RECESSIVE	OMIM	280	pfam02931	NULL
2741	116242495	Disease	p.Ser231Arg	138491.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA, AUTOSOMAL RECESSIVE	OMIM	280	pfam02931	225903367,NP_001139512
2741	119372310	Disease	p.Ser267Asn	138491.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA, AUTOSOMAL DOMINANT	OMIM	13	pfam02932	NULL
2741	116242495	Disease	p.Ser267Asn	138491.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138491	HYPEREKPLEXIA, AUTOSOMAL DOMINANT	OMIM	13	pfam02932	225903367,NP_001139512
629	584908	Disease	p.Arg8Gln	138470.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	FACTOR B FAST-SLOW POLYMORPHISM||BF*FA/S	OMIM	No Domain	N/A	67782358,NP_001701
629	584908	Disease	p.Arg8Trp	138470.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	FACTOR B FAST-SLOW POLYMORPHISM||BF*FB/S	OMIM	No Domain	N/A	67782358,NP_001701
629	584908	Disease	p.Leu9His	138470.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF	OMIM	No Domain	N/A	67782358,NP_001701
629	584908	Disease	p.Arg32Gln	138470.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF	OMIM	No Domain	N/A	67782358,NP_001701
629	584908	Disease	p.Phe286Leu	138470.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4	OMIM	26	cd01480	67782358,NP_001701
629	584908	Disease	p.Phe286Leu	138470.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4	OMIM	58	smart00327	67782358,NP_001701
629	584908	Disease	p.Phe286Leu	138470.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4	OMIM	18	cd01469	67782358,NP_001701
629	584908	Disease	p.Phe286Leu	138470.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4	OMIM	18	cd01470	67782358,NP_001701
629	584908	Disease	p.Phe286Leu	138470.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4	OMIM	29	cd00198	67782358,NP_001701
629	584908	Disease	p.Phe286Leu	138470.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4	OMIM	26	cd01450	67782358,NP_001701
629	584908	Disease	p.Phe286Leu	138470.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4	OMIM	24	cd01472	67782358,NP_001701
629	584908	Disease	p.Phe286Leu	138470.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4	OMIM	19	cd01471	67782358,NP_001701
629	584908	Disease	p.Phe286Leu	138470.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4	OMIM	27	pfam00092	67782358,NP_001701
629	584908	Disease	p.Lys323Glu	138470.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4	OMIM	77	cd01480	67782358,NP_001701
629	584908	Disease	p.Lys323Glu	138470.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4	OMIM	168	smart00327	67782358,NP_001701
629	584908	Disease	p.Lys323Glu	138470.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4	OMIM	55	cd01469	67782358,NP_001701
629	584908	Disease	p.Lys323Glu	138470.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4	OMIM	55	cd01470	67782358,NP_001701
629	584908	Disease	p.Lys323Glu	138470.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4	OMIM	90	cd00198	67782358,NP_001701
629	584908	Disease	p.Lys323Glu	138470.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4	OMIM	90	cd01450	67782358,NP_001701
629	584908	Disease	p.Lys323Glu	138470.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4	OMIM	76	cd01472	67782358,NP_001701
629	584908	Disease	p.Lys323Glu	138470.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4	OMIM	56	cd01471	67782358,NP_001701
629	584908	Disease	p.Lys323Glu	138470.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138470	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4	OMIM	85	pfam00092	67782358,NP_001701
2820	229462943	Disease	p.Phe635Ser	138430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138430	DIABETES MELLITUS, TYPE II	OMIM	8	cd00052	285002231,NP_001076581|285002233,NP_000399
2820	229462943	Disease	p.Phe635Ser	138430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138430	DIABETES MELLITUS, TYPE II	OMIM	9	cd00051	285002231,NP_001076581|285002233,NP_000399
2820	229462943	Disease	p.Phe635Ser	138430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138430	DIABETES MELLITUS, TYPE II	OMIM	8	cd00052	285002231,NP_001076581|285002233,NP_000399
2820	229462943	Disease	p.Phe635Ser	138430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138430	DIABETES MELLITUS, TYPE II	OMIM	9	cd00051	285002231,NP_001076581|285002233,NP_000399
2876	41406082	Disease	p.Pro197Leu	138320.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138320	GLUTATHIONE PEROXIDASE POLYMORPHISM	OMIM	No Domain	N/A	NULL
2876	311033481	Disease	p.Pro197Leu	138320.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138320	GLUTATHIONE PEROXIDASE POLYMORPHISM	OMIM	191	COG0386	41406084,NP_000572
2752	1169929	Disease	p.Arg324Cys	138290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138290	GLUTAMINE DEFICIENCY, CONGENITAL	OMIM	411	COG0174	19923206,NP_002056|74271837,NP_001028216|74271826,NP_001028228
2752	1169929	Disease	p.Arg324Cys	138290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138290	GLUTAMINE DEFICIENCY, CONGENITAL	OMIM	288	pfam00120	19923206,NP_002056|74271837,NP_001028216|74271826,NP_001028228
2752	1169929	Disease	p.Arg324Cys	138290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138290	GLUTAMINE DEFICIENCY, CONGENITAL	OMIM	411	COG0174	19923206,NP_002056|74271837,NP_001028216|74271826,NP_001028228
2752	1169929	Disease	p.Arg324Cys	138290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138290	GLUTAMINE DEFICIENCY, CONGENITAL	OMIM	288	pfam00120	19923206,NP_002056|74271837,NP_001028216|74271826,NP_001028228
2752	1169929	Disease	p.Arg324Cys	138290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138290	GLUTAMINE DEFICIENCY, CONGENITAL	OMIM	411	COG0174	19923206,NP_002056|74271837,NP_001028216|74271826,NP_001028228
2752	1169929	Disease	p.Arg324Cys	138290.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138290	GLUTAMINE DEFICIENCY, CONGENITAL	OMIM	288	pfam00120	19923206,NP_002056|74271837,NP_001028216|74271826,NP_001028228
2752	1169929	Disease	p.Arg341Cys	138290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138290	GLUTAMINE DEFICIENCY, CONGENITAL	OMIM	449	COG0174	19923206,NP_002056|74271837,NP_001028216|74271826,NP_001028228
2752	1169929	Disease	p.Arg341Cys	138290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138290	GLUTAMINE DEFICIENCY, CONGENITAL	OMIM	310	pfam00120	19923206,NP_002056|74271837,NP_001028216|74271826,NP_001028228
2752	1169929	Disease	p.Arg341Cys	138290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138290	GLUTAMINE DEFICIENCY, CONGENITAL	OMIM	449	COG0174	19923206,NP_002056|74271837,NP_001028216|74271826,NP_001028228
2752	1169929	Disease	p.Arg341Cys	138290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138290	GLUTAMINE DEFICIENCY, CONGENITAL	OMIM	310	pfam00120	19923206,NP_002056|74271837,NP_001028216|74271826,NP_001028228
2752	1169929	Disease	p.Arg341Cys	138290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138290	GLUTAMINE DEFICIENCY, CONGENITAL	OMIM	449	COG0174	19923206,NP_002056|74271837,NP_001028216|74271826,NP_001028228
2752	1169929	Disease	p.Arg341Cys	138290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138290	GLUTAMINE DEFICIENCY, CONGENITAL	OMIM	310	pfam00120	19923206,NP_002056|74271837,NP_001028216|74271826,NP_001028228
5832	62912457	Disease	p.Arg84Gln	138250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH METABOLIC ABNORMALITIES	OMIM	11	cd02115	NULL
5832	62912457	Disease	p.Arg84Gln	138250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH METABOLIC ABNORMALITIES	OMIM	22	cd04256	NULL
5832	62912457	Disease	p.Arg84Gln	138250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH METABOLIC ABNORMALITIES	OMIM	26	pfam00696	NULL
5832	62912457	Disease	p.Arg84Gln	138250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH METABOLIC ABNORMALITIES	OMIM	10_G	COG0548	NULL
5832	62912457	Disease	p.Arg84Gln	138250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH METABOLIC ABNORMALITIES	OMIM	13	cd04242	NULL
5832	62912457	Disease	p.Arg84Gln	138250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH METABOLIC ABNORMALITIES	OMIM	13	cd04241	NULL
5832	62912457	Disease	p.Arg84Gln	138250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH METABOLIC ABNORMALITIES	OMIM	27	COG1608	NULL
5832	62912457	Disease	p.Arg84Gln	138250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH METABOLIC ABNORMALITIES	OMIM	12	cd04251	NULL
5832	62912457	Disease	p.Arg84Gln	138250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH METABOLIC ABNORMALITIES	OMIM	23	COG0263	NULL
5832	6226882	Disease	p.Arg84Gln	138250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH METABOLIC ABNORMALITIES	OMIM	11	cd02115	21361368,NP_002851
5832	6226882	Disease	p.Arg84Gln	138250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH METABOLIC ABNORMALITIES	OMIM	22	cd04256	21361368,NP_002851
5832	6226882	Disease	p.Arg84Gln	138250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH METABOLIC ABNORMALITIES	OMIM	26	pfam00696	21361368,NP_002851
5832	6226882	Disease	p.Arg84Gln	138250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH METABOLIC ABNORMALITIES	OMIM	10_G	COG0548	21361368,NP_002851
5832	6226882	Disease	p.Arg84Gln	138250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH METABOLIC ABNORMALITIES	OMIM	13	cd04241	21361368,NP_002851
5832	6226882	Disease	p.Arg84Gln	138250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH METABOLIC ABNORMALITIES	OMIM	13	cd04242	21361368,NP_002851
5832	6226882	Disease	p.Arg84Gln	138250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH METABOLIC ABNORMALITIES	OMIM	6_G	cd04238	21361368,NP_002851
5832	6226882	Disease	p.Arg84Gln	138250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH METABOLIC ABNORMALITIES	OMIM	27	COG1608	21361368,NP_002851
5832	6226882	Disease	p.Arg84Gln	138250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH METABOLIC ABNORMALITIES	OMIM	12	cd04251	21361368,NP_002851
5832	6226882	Disease	p.Arg84Gln	138250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH METABOLIC ABNORMALITIES	OMIM	23	COG0263	21361368,NP_002851
5832	62912457	Disease	p.His784Tyr	138250.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITHOUT METABOLIC ABNORMALITIES	OMIM	No Domain	N/A	NULL
5832	6226882	Disease	p.His784Tyr	138250.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138250	MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITHOUT METABOLIC ABNORMALITIES	OMIM	No Domain	N/A	21361368,NP_002851
1798	18202943	Disease	p.His14Asp	138200.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138200	GLUTAMIC-PYRUVATE TRANSAMINASE POLYMORPHISM	OMIM	5	COG0472	42794009,NP_001373
6517	4507011	Disease	p.Val383Ile	138190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138190	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	753	cd06174	NULL
6517	4507011	Disease	p.Val383Ile	138190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138190	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	738	COG0477	NULL
6517	4507011	Disease	p.Val383Ile	138190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138190	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	313	COG2814	NULL
6517	4507011	Disease	p.Val383Ile	138190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138190	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	496	pfam00083	NULL
6514	121756	Disease	p.Val197Ile	138160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138160	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	284	pfam07690	4557851,NP_000331
6514	121756	Disease	p.Val197Ile	138160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138160	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	346	COG0477	4557851,NP_000331
6514	121756	Disease	p.Val197Ile	138160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138160	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	235	pfam00083	4557851,NP_000331
6514	121756	Disease	p.Val197Ile	138160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138160	DIABETES MELLITUS, NONINSULIN-DEPENDENT	OMIM	267	cd06174	4557851,NP_000331
6514	121756	Disease	p.Pro417Leu	138160.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138160	FANCONI-BICKEL SYNDROME	OMIM	696	pfam07690	4557851,NP_000331
6514	121756	Disease	p.Pro417Leu	138160.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138160	FANCONI-BICKEL SYNDROME	OMIM	730	COG0477	4557851,NP_000331
6514	121756	Disease	p.Pro417Leu	138160.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138160	FANCONI-BICKEL SYNDROME	OMIM	514	pfam00083	4557851,NP_000331
6514	121756	Disease	p.Pro417Leu	138160.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138160	FANCONI-BICKEL SYNDROME	OMIM	771	cd06174	4557851,NP_000331
6514	121756	Disease	p.Val423Glu	138160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138160	FANCONI-BICKEL SYNDROME	OMIM	702	pfam07690	4557851,NP_000331
6514	121756	Disease	p.Val423Glu	138160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138160	FANCONI-BICKEL SYNDROME	OMIM	736	COG0477	4557851,NP_000331
6514	121756	Disease	p.Val423Glu	138160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138160	FANCONI-BICKEL SYNDROME	OMIM	520	pfam00083	4557851,NP_000331
6514	121756	Disease	p.Val423Glu	138160.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138160	FANCONI-BICKEL SYNDROME	OMIM	777	cd06174	4557851,NP_000331
6514	121756	Disease	p.Leu389Pro	138160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138160	FANCONI-BICKEL SYNDROME	OMIM	637	pfam07690	4557851,NP_000331
6514	121756	Disease	p.Leu389Pro	138160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138160	FANCONI-BICKEL SYNDROME	OMIM	680	COG0477	4557851,NP_000331
6514	121756	Disease	p.Leu389Pro	138160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138160	FANCONI-BICKEL SYNDROME	OMIM	479	pfam00083	4557851,NP_000331
6514	121756	Disease	p.Leu389Pro	138160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138160	FANCONI-BICKEL SYNDROME	OMIM	652	cd06174	4557851,NP_000331
6513	115502394	Disease	p.Lys256Val	138140.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	560	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Lys256Val	138140.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	446	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Lys256Val	138140.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	478	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Lys256Val	138140.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	344	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Arg126Leu	138140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	251	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Arg126Leu	138140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	230	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Arg126Leu	138140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	209	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Arg126Leu	138140.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	191	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Gly91Asp	138140.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1	OMIM	154	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Gly91Asp	138140.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1	OMIM	174	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Gly91Asp	138140.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1	OMIM	126	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Gly91Asp	138140.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1	OMIM	139	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Arg126His	138140.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1	OMIM	251	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Arg126His	138140.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1	OMIM	230	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Arg126His	138140.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1	OMIM	209	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Arg126His	138140.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1	OMIM	191	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Gly314Ser	138140.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 2	OMIM	742	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Gly314Ser	138140.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 2	OMIM	574	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Gly314Ser	138140.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 2	OMIM	565	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Gly314Ser	138140.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 2	OMIM	413	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Ala275Thr	138140.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 2	OMIM	634	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Ala275Thr	138140.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 2	OMIM	500	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Ala275Thr	138140.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 2	OMIM	497	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Ala275Thr	138140.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 2	OMIM	371	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Asn34Ile	138140.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1	OMIM	35	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Asn34Ile	138140.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1	OMIM	19	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Asn34Ile	138140.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1	OMIM	21	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Ser95Ile	138140.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 2	OMIM	168	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Ser95Ile	138140.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 2	OMIM	181	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Ser95Ile	138140.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 2	OMIM	143	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Ser95Ile	138140.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 2	OMIM	144	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Arg93Trp	138140.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1	OMIM	156	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Arg93Trp	138140.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1	OMIM	178	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Arg93Trp	138140.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1	OMIM	128	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Arg93Trp	138140.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1	OMIM	141	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Arg126Cys	138140.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1	OMIM	251	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Arg126Cys	138140.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1	OMIM	230	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Arg126Cys	138140.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1	OMIM	209	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Arg126Cys	138140.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1	OMIM	191	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Arg91Trp	138140.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 2	OMIM	154	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Arg91Trp	138140.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 2	OMIM	174	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Arg91Trp	138140.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 2	OMIM	126	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Arg91Trp	138140.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 2	OMIM	139	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Arg468Trp	138140.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138140	GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	166795299,NP_006507
2746	118541	Disease	p.His454Tyr	138130.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	190_G	cd05211	4885281,NP_005262
2746	118541	Disease	p.His454Tyr	138130.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	251	smart00839	4885281,NP_005262
2746	118541	Disease	p.His454Tyr	138130.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	259	cd05313	4885281,NP_005262
2746	118541	Disease	p.His454Tyr	138130.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	239	cd01076	4885281,NP_005262
2746	118541	Disease	p.His454Tyr	138130.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	264	pfam00208	4885281,NP_005262
2746	118541	Disease	p.His454Tyr	138130.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	212	cd01075	4885281,NP_005262
2746	118541	Disease	p.His454Tyr	138130.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	436_G	COG0334	4885281,NP_005262
2746	118541	Disease	p.Ser445Leu	138130.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	184	cd05211	4885281,NP_005262
2746	118541	Disease	p.Ser445Leu	138130.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	242	smart00839	4885281,NP_005262
2746	118541	Disease	p.Ser445Leu	138130.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	248	cd05313	4885281,NP_005262
2746	118541	Disease	p.Ser445Leu	138130.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	230	cd01076	4885281,NP_005262
2746	118541	Disease	p.Ser445Leu	138130.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	260	pfam00208	4885281,NP_005262
2746	118541	Disease	p.Ser445Leu	138130.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	191	cd01075	4885281,NP_005262
2746	118541	Disease	p.Ser445Leu	138130.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	436_G	COG0334	4885281,NP_005262
2746	118541	Disease	p.Ser448Pro	138130.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	187	cd05211	4885281,NP_005262
2746	118541	Disease	p.Ser448Pro	138130.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	245	smart00839	4885281,NP_005262
2746	118541	Disease	p.Ser448Pro	138130.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	253	cd05313	4885281,NP_005262
2746	118541	Disease	p.Ser448Pro	138130.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	233	cd01076	4885281,NP_005262
2746	118541	Disease	p.Ser448Pro	138130.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	262_G	pfam00208	4885281,NP_005262
2746	118541	Disease	p.Ser448Pro	138130.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	203	cd01075	4885281,NP_005262
2746	118541	Disease	p.Ser448Pro	138130.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	436_G	COG0334	4885281,NP_005262
2746	118541	Disease	p.Gly446Ser	138130.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	185	cd05211	4885281,NP_005262
2746	118541	Disease	p.Gly446Ser	138130.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	243	smart00839	4885281,NP_005262
2746	118541	Disease	p.Gly446Ser	138130.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	251	cd05313	4885281,NP_005262
2746	118541	Disease	p.Gly446Ser	138130.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	231	cd01076	4885281,NP_005262
2746	118541	Disease	p.Gly446Ser	138130.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	261	pfam00208	4885281,NP_005262
2746	118541	Disease	p.Gly446Ser	138130.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	201	cd01075	4885281,NP_005262
2746	118541	Disease	p.Gly446Ser	138130.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	436_G	COG0334	4885281,NP_005262
2746	118541	Disease	p.Gly446Asp	138130.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	185	cd05211	4885281,NP_005262
2746	118541	Disease	p.Gly446Asp	138130.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	243	smart00839	4885281,NP_005262
2746	118541	Disease	p.Gly446Asp	138130.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	251	cd05313	4885281,NP_005262
2746	118541	Disease	p.Gly446Asp	138130.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	231	cd01076	4885281,NP_005262
2746	118541	Disease	p.Gly446Asp	138130.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	261	pfam00208	4885281,NP_005262
2746	118541	Disease	p.Gly446Asp	138130.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	201	cd01075	4885281,NP_005262
2746	118541	Disease	p.Gly446Asp	138130.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	436_G	COG0334	4885281,NP_005262
2746	118541	Disease	p.Glu296Ala	138130.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	25_G	cd05211	4885281,NP_005262
2746	118541	Disease	p.Glu296Ala	138130.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	42_G	cd05313	4885281,NP_005262
2746	118541	Disease	p.Glu296Ala	138130.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	51	cd01076	4885281,NP_005262
2746	118541	Disease	p.Glu296Ala	138130.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	30	pfam00208	4885281,NP_005262
2746	118541	Disease	p.Glu296Ala	138130.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	29_G	cd01075	4885281,NP_005262
2746	118541	Disease	p.Glu296Ala	138130.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	222	COG0334	4885281,NP_005262
2746	118541	Disease	p.Arg265Lys	138130.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	10	cd05313	4885281,NP_005262
2746	118541	Disease	p.Arg265Lys	138130.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	3	cd01076	4885281,NP_005262
2746	118541	Disease	p.Arg265Lys	138130.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	3	pfam00208	4885281,NP_005262
2746	118541	Disease	p.Arg265Lys	138130.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	195	COG0334	4885281,NP_005262
2746	118541	Disease	p.Arg221Cys	138130.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	210	pfam02812	4885281,NP_005262
2746	118541	Disease	p.Arg221Cys	138130.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	152	COG0334	4885281,NP_005262
2746	118541	Disease	p.Arg269His	138130.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	14	cd05313	4885281,NP_005262
2746	118541	Disease	p.Arg269His	138130.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	7	cd01076	4885281,NP_005262
2746	118541	Disease	p.Arg269His	138130.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	8	pfam00208	4885281,NP_005262
2746	118541	Disease	p.Arg269His	138130.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138130	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	OMIM	199	COG0334	4885281,NP_005262
9563	108884809	Disease	p.Arg453Gln	138090.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138090	CORTISONE REDUCTASE DEFICIENCY	OMIM	235	pfam02781	52145310,NP_004276
9563	108884809	Disease	p.Arg453Gln	138090.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138090	CORTISONE REDUCTASE DEFICIENCY	OMIM	453	COG0364	52145310,NP_004276
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	235	cd07858	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	219	cd05113	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	216	cd05114	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	215	cd05112	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	240	cd07870	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	215	cd06642	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	215	cd06640	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	215	cd06641	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	213	cd05115	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	222	cd05570	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	254	cd05056	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	907	smart00220	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	210	cd05085	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	222	cd08226	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	270	cd08227	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	281	cd06623	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	268	cd06614	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	263	cd05622	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	240	cd06636	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	263	cd05621	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	274	cd07876	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	244	cd07874	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	259	cd07845	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	240	cd07879	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238	cd06635	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	814	cd00180	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	296	cd05572	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	773	cd05579	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	833	cd05123	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	218	cd05577	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	203	cd05585	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	213	cd05586	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	193	cd05633	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	209	cd05607	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	210	cd05608	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	205	cd05606	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	254	cd06639	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	229	cd06648	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	229	cd06656	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	243	cd06638	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	264	cd05596	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	256	cd05098	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	253	cd05101	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	244	cd07877	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	229	cd06647	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd06654	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	229	cd06657	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	226	cd05111	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	226	cd05109	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	234	cd06633	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	229	cd06644	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	231	cd06659	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	232	cd06658	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	229	cd06655	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	224	cd06631	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	436	pfam07714	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	652	smart00219	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	234	cd05079	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	215	cd05589	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	272	cd07867	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	388	pfam00069	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	241	cd05118	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	254	cd07868	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	948	smart00221	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	262	cd07835	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	364	cd07840	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	283	cd07838	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	306	cd07829	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	247	cd06629	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	331	cd07830	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	252	cd07831	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd05074	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd05081	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	242	cd05035	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	244	cd06652	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	213	cd05082	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	233	cd06616	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd05080	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	224	cd08224	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	220	cd06653	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	225	cd08216	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	243	cd07869	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	271	cd07855	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	245	cd05094	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	236_G	cd05093	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	204	smart00750	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	223	cd06646	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	223	cd06645	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd06634	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	280	cd06620	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	228	cd06607	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238_G	cd05092	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	225	cd05065	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	251	cd05100	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	250	cd05099	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	233	cd07880	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd06624	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	279	cd07865	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	269	cd05053	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	274	cd07850	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	240	cd05036	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	221_G	cd05073	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	218	cd05072	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	236	cd05062	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	267	cd06608	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd06637	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	217	cd05071	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	264	cd05043	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	217	cd05069	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	237	cd05061	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	223	cd05068	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	216	cd05052	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	223	cd06613	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	271_G	cd05049	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	224	cd06625	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	234	cd06612	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	303	cd05046	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	221	cd05067	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	229	cd05034	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	217	cd05070	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	283	cd05032	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	253	cd05148	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	250	cd05050	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	284	cd05033	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	223	cd06630	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	200	cd05618	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	223	cd05047	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	212	cd05594	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	212	cd05604	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	206	cd05602	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	228	cd05040	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	209	cd05617	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	211	cd05588	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	206	cd05575	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	229	cd05087	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	243	cd05037	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	218	cd05077	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	467	cd00192	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	206	cd05603	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	211	cd05591	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	207_G	cd05590	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	213	cd05116	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	211	cd05084	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	241	cd06632	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	256	cd05044	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	220	cd05060	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	222_G	cd05058	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	204_G	cd05619	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	224	cd05620	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	211	cd05595	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	227	cd05592	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	210	cd05571	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	225	cd05086	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	231	cd05042	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	242	cd05041	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	211	cd05593	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	208	cd05083	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	241	cd07837	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	219	cd08229	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	996	COG0515	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	244	cd06619	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	226	cd05597	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	235	cd07872	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	235	cd07873	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	223	cd06617	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	278	cd05629	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	285	cd05600	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	264	cd05626	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	262	cd05625	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	277	cd05598	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	492	cd05599	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	253	cd05627	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	253	cd05628	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	234	cd05601	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	224	cd05623	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	308	cd05574	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	228	cd06917	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	231	cd06621	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	224	cd06615	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	280	cd05580	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd07862	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	253	cd07847	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	465	cd05581	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	254	cd07846	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	278	cd07843	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	310	cd07833	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238	cd06610	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	234	cd07871	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	271	cd07848	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	219	cd08228	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	231	cd05609	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	210_G	cd05612	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238	cd05059	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	242	cd06622	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	287	cd06605	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	224	cd05624	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	363	cd05573	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	246	cd06609	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	261	cd07832	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	243	cd05045	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	283	cd05038	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	355	cd07834	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd05089	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	221	cd05587	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	214	cd05630	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	215	cd05615	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	255	cd07857	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	235	cd05613	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	228	cd05583	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	214	cd05632	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	227	cd07859	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	214	cd05631	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	301	cd05122	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	215	cd05616	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	271	cd07852	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	218	cd08221	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	219	cd08222	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	214	cd08219	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	287	cd08217	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	227	cd05578	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	285	cd08215	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	242	cd07863	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd07836	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	367	cd06606	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238	cd07839	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	375	cd07842	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	223	cd08529	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd06628	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	263	cd06626	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	237	cd07861	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	214	cd08218	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	223	cd08220	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	216	cd08225	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	215	cd08223	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	235	cd07860	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	221	cd08530	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	262	cd06627	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	214	cd05605	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	220	cd06651	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	277	cd07841	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	252	cd07853	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	221	cd05614	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	237	cd08528	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	235	cd05088	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	220	cd07856	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	221	cd06650	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	259	cd06649	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	280	cd05057	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	233	cd07878	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	262	cd07851	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	303	cd07866	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	236	cd06618	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	212	cd05582	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	302	cd05611	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	218	cd05584	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	319	cd05051	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	222	cd06643	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	235	cd07864	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	263	cd05095	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	248	cd05097	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	220	cd07844	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	245	cd07854	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	224	cd06611	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	246	cd07849	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	241	cd05090	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	268	cd05048	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	270	cd07858	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	246	cd05113	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	245	cd05114	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	245	cd05112	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	283	cd07870	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	244	cd06642	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	244	cd06640	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	244	cd06641	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	242	cd05115	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	249	cd05570	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	284	cd05056	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	1197	smart00220	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	239	cd05085	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	299	cd08226	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	324	cd08227	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	329	cd06623	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	299	cd06614	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	295	cd05622	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	270	cd06636	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	295	cd05621	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	306	cd07876	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	302	cd07874	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	304	cd07845	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	281	cd07879	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	268	cd06635	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	851	cd00180	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	325	cd05572	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	812	cd05579	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	912	cd05123	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	248	cd05577	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	235	cd05585	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	240	cd05586	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	217_G	cd05633	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	242	cd05607	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	243	cd05608	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238	cd05606	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	285	cd06639	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	262	cd06648	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	260	cd06656	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	274	cd06638	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	296	cd05596	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	286	cd05098	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	283	cd05101	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	277	cd07877	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	260	cd06647	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	261	cd06654	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	261	cd06657	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	255	cd05111	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	255	cd05109	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	264	cd06633	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	260	cd06644	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	262	cd06659	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	263	cd06658	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	260	cd06655	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	255	cd06631	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	472	pfam07714	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	690	smart00219	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	270	cd05079	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	243	cd05589	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	305	cd07867	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	457	pfam00069	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	299	cd05118	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	305	cd07868	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	1071	smart00221	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	304	cd07835	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	408	cd07840	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	343	cd07838	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	353	cd07829	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	265	cd06629	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	384	cd07830	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	288	cd07831	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	259	cd05074	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	270	cd05081	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	270	cd05035	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	276	cd06652	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	243	cd05082	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	270	cd06616	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	268	cd05080	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	254	cd08224	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	257	cd06653	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	302	cd08216	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	279	cd07869	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	322	cd07855	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	278	cd05094	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	266	cd05093	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	276	smart00750	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	256	cd06646	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	256	cd06645	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	260	cd06634	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	315	cd06620	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	264	cd06607	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	268	cd05092	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	255	cd05065	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	281	cd05100	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	280	cd05099	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	271	cd07880	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	261	cd06624	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	342	cd07865	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	297	cd05053	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	309	cd07850	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	268	cd05036	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	248	cd05073	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	248	cd05072	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	265	cd05062	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	298	cd06608	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	260	cd06637	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	247	cd05071	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	247	cd05069	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	266	cd05061	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	253	cd05068	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	249	cd05052	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	256	cd06613	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	254	cd06625	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	267	cd06612	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	333	cd05046	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	254	cd05067	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	260	cd05034	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	247	cd05070	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	314	cd05032	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	283	cd05148	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	279	cd05050	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	256	cd06630	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	217_G	cd05618	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	255	cd05047	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238	cd05594	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238	cd05604	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238	cd05602	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	259	cd05040	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	245	cd05617	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	247	cd05588	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	239	cd05575	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	262	cd05087	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	284	cd05037	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	251	cd05077	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	510	cd00192	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238	cd05603	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238	cd05591	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238	cd05590	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	242	cd05116	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	240	cd05084	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	271	cd06632	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	249	cd05060	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	253	cd05058	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238	cd05619	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	253	cd05620	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	237	cd05595	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	254	cd05592	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238	cd05571	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	257	cd05086	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	261	cd05042	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	237	cd05593	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	241	cd05083	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	290	cd07837	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	252	cd08229	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	1173	COG0515	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	274	cd06619	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	262	cd05597	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	277	cd07872	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	277	cd07873	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	257	cd06617	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	310	cd05629	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	324	cd05600	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	296	cd05626	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	293	cd05625	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	315	cd05598	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	557	cd05599	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	284	cd05627	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	293	cd05628	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	263	cd05601	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	257	cd05623	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	346	cd05574	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	261	cd06917	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	266	cd06621	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	293	cd06615	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	310	cd05580	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	283	cd07862	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	292	cd07847	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	518	cd05581	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	295	cd07846	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	328	cd07843	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	359	cd07833	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	280	cd06610	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	276	cd07871	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	304	cd07848	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	252	cd08228	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	263	cd05609	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	241	cd05612	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	272	cd06622	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	329	cd06605	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	258	cd05624	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	399	cd05573	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	283	cd06609	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	302	cd07832	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	273	cd05045	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	316	cd05038	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	449	cd07834	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	262	cd05089	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	248	cd05587	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	247	cd05630	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	243	cd05615	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	293	cd07857	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	267	cd05613	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	255	cd05583	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	247	cd05632	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	258	cd07859	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	247	cd05631	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	342	cd05122	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	243	cd05616	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	306	cd07852	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	257	cd08221	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	249	cd08222	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	243	cd08219	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	317	cd08217	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	271	cd05578	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	326	cd08215	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	279	cd07863	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	283	cd07836	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	418	cd06606	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	274	cd07839	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	426	cd07842	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	253	cd08529	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	260	cd06628	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	296	cd06626	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	281	cd07861	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	244	cd08218	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	253	cd08220	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	245	cd08225	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	245	cd08223	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	272	cd07860	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	252	cd08530	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	291	cd06627	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	247	cd05605	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	252	cd06651	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	325	cd07841	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	291	cd07853	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	253	cd05614	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	267	cd08528	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	267	cd05088	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	279	cd07856	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	266	cd06650	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	292	cd06649	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	309	cd05057	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	271	cd07878	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	314	cd07851	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	341	cd07866	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	273	cd06618	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	240	cd05582	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	335	cd05611	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	246	cd05584	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	253	cd06643	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	294	cd07864	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	296	cd05095	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	285	cd05097	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	253	cd07844	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	314	cd07854	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	255	cd06611	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	314	cd07849	22035600,NP_004570
5871	215274019	Disease	p.Gly261Arg	138079.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	274	cd05090	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	317	cd07858	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	311	cd05570	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	329_G	cd05622	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	330_G	cd05621	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	346	cd07876	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	342	cd07874	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	316	cd07879	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	306	cd06635	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	272	cd05585	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	278_G	cd05586	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	247	cd05633	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	338	cd05596	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	317	cd07877	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	302	cd06633	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	281	cd05589	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	367	cd07855	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	307	cd05094	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	298	cd06634	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	302	cd06607	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	326	cd05100	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	308_G	cd07880	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	356	cd07850	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	254	cd05618	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	281	cd05594	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	283	cd05604	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	280	cd05602	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	285	cd05617	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	290	cd05588	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	285	cd05575	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	280	cd05603	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	282	cd05591	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	281	cd05590	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	275	cd05619	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	290	cd05620	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	280	cd05595	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	293	cd05592	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	281	cd05571	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	285	cd05593	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	1241	COG0515	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	296	cd05597	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	354	cd05629	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	384	cd05600	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	346	cd05626	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	343	cd05625	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	370	cd05598	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	318	cd05627	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	325_G	cd05628	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	296	cd05601	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	300	cd05623	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	381	cd05580	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	324_G	cd05609	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	283_G	cd05612	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	322	cd06622	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	299	cd05624	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	483	cd05573	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	517	cd07834	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	294	cd05587	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	281	cd05615	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	326	cd07857	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	289	cd07859	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	281	cd05616	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	341	cd07852	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	346	cd07853	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	293_G	cd05614	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	300	cd05088	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	302_G	cd06650	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	309	cd07878	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	345	cd07851	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	282_G	cd05582	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	391	cd05611	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	287	cd05584	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	291	cd07844	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	344	cd07854	22035600,NP_004570
5871	215274019	Disease	p.Gly299Arg	138079.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	346	cd07849	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	129	cd07858	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd05113	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	120	cd05114	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	120	cd05112	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	123	cd07870	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd06642	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd06640	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd06641	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	115	cd05115	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	118	cd05570	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	156	cd05056	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	419	smart00220	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	114	cd05085	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd08226	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd08227	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	167	cd06623	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	172	cd06614	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	162	cd05622	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	141	cd06636	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	162	cd05621	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	143	cd07876	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	139	cd07874	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	141	cd07845	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	148	cd07879	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	145	cd06635	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	361	cd00180	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	188	cd05572	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	116	cd05579	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	636	cd05123	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	120	cd05577	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	113	cd05585	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	116	cd05586	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	117	cd05633	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	115	cd05607	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	117	cd05608	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	118	cd05606	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	155	cd06639	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	136	cd06648	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	135	cd06656	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	144	cd06638	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	162	cd05596	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	160	cd05098	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	157	cd05101	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	140	cd07877	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	135	cd06647	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	136	cd06654	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	136	cd06657	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	129	cd05111	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	129	cd05109	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	141	cd06633	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	130	cd06644	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	137	cd06659	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	138	cd06658	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	135	cd06655	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	124	cd06631	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	274	pfam07714	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	417	smart00219	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	129	cd05079	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd05589	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	128	cd07867	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	211	pfam00069	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	129	cd05118	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	128	cd07868	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	529	smart00221	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	146	cd07835	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	169	cd07840	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	146	cd07838	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	160	cd07829	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	130	cd06629	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	172	cd07830	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd07831	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	133	cd05074	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	128	cd05081	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	143	cd05035	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	150	cd06652	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd05082	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	134	cd06616	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	127	cd05080	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	127	cd08224	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	126	cd06653	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	123	cd08216	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	123	cd07869	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	148	cd07855	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	143	cd05094	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	140	cd05093	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	43	smart00750	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	126	cd06646	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	126	cd06645	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	135	cd06634	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	125	cd06620	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	135	cd06607	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	142	cd05092	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	126	cd05065	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	154	cd05100	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	154	cd05099	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	138	cd07880	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	133	cd06624	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	144	cd07865	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	170	cd05053	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	140	cd07850	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	138	cd05036	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	123	cd05073	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	123	cd05072	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	139	cd05062	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	163	cd06608	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	131	cd06637	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd05071	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	162	cd05043	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd05069	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	140	cd05061	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	125	cd05068	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	124	cd05052	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	123	cd06613	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	147	cd05049	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	126	cd06625	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	135	cd06612	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	206	cd05046	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	126	cd05039	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd05067	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	123	cd05034	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd05070	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	184	cd05032	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	125	cd05148	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	153	cd05050	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	158	cd05033	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	123	cd06630	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	116	cd05618	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	132	cd05047	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	115	cd05594	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	116	cd05604	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	116	cd05602	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	124	cd05040	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	116	cd05617	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	116	cd05588	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	116	cd05575	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	125	cd05087	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	139	cd05037	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	125	cd05077	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	329	cd00192	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	116	cd05603	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	116	cd05591	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	116	cd05590	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	115	cd05116	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	114	cd05084	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	139	cd06632	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	130	cd05044	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd05060	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	125	cd05058	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	116	cd05619	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	131	cd05620	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	115	cd05595	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	131	cd05592	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	116	cd05571	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	120	cd05086	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	123	cd05042	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	116	cd05041	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	115	cd05593	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	120	cd05083	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	138	cd07837	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	126	cd08229	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	520	COG0515	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	136	cd06619	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd05597	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	124	cd07872	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	124	cd07873	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	124	cd06617	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd05629	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd05600	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd05626	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd05625	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd05598	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	288	cd05599	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd05627	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd05628	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd05601	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd05623	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	143	cd05574	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	130	cd06917	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	130	cd06621	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd06615	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	174	cd05580	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	130	cd07862	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	126	cd07847	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	236	cd05581	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd07846	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	138	cd07843	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	142	cd07833	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	132	cd06610	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	123	cd07871	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	149	cd07848	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	126	cd08228	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd05609	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd05612	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd05059	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	134	cd06622	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	137	cd06605	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd05624	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	177	cd05573	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	143	cd06609	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	135	cd07832	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	147	cd05045	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	148	cd05038	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	163	cd07834	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	139	cd05089	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	126	cd05587	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd05630	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd05615	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	129	cd07857	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	138	cd05613	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	125	cd05583	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd05632	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	123	cd07859	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd05631	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	154	cd05122	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd05616	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	129	cd07852	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd08221	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	127	cd08222	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	120	cd08219	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	152	cd08217	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd05578	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	163	cd08215	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	131	cd07863	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	123	cd07836	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	201	cd06606	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	119	cd07839	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	224	cd07842	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	126	cd08529	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	128	cd06628	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd06626	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd07861	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd08218	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	130	cd08220	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	121	cd08225	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd08223	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	120	cd07860	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	126	cd08530	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	127	cd06627	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	122	cd05605	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	126	cd06651	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	137	cd07841	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	124	cd07853	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	125	cd05614	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	142	cd08528	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	144	cd05088	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	128	cd07856	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	123	cd06650	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	123	cd06649	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	182	cd05057	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	138	cd07878	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	154	cd07851	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	151	cd07866	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	139	cd06618	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	118	cd05582	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	117	cd05611	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	124	cd05584	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	181	cd05051	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	123	cd06643	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	138	cd07864	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	161	cd05095	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	151	cd05097	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	124	cd07844	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	146	cd07854	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	125	cd06611	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	130	cd07849	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	144	cd05090	22035600,NP_004570
5871	215274019	Disease	p.Ser131Pro	138079.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, GESTATIONAL	OMIM	147	cd05048	22035600,NP_004570
5871	215274019	Disease	p.Val455Met	138079.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	No Domain	N/A	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	210	cd07858	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	201	cd05113	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	198	cd05114	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	198	cd05112	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	200	cd07870	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	197	cd06642	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	197	cd06640	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	197	cd06641	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	195	cd05115	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	194	cd05570	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	235	cd05056	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	790	smart00220	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	191	cd05085	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	206	cd08226	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	223	cd08227	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	255	cd06623	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	250	cd06614	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	243	cd05622	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	222	cd06636	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	243	cd05621	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238	cd07876	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	217	cd07874	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	217	cd07845	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	222	cd07879	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	220	cd06635	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	681	cd00180	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	267	cd05572	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	740	cd05579	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	808	cd05123	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	197	cd05577	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	189	cd05585	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	193	cd05586	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	185_G	cd05633	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	191	cd05607	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	193	cd05608	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	190_G	cd05606	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	236	cd06639	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	212	cd06648	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	211	cd06656	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	225	cd06638	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	244	cd05596	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238	cd05098	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	235	cd05101	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	217	cd07877	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	211	cd06647	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	212	cd06654	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	212	cd06657	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	207	cd05111	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	207	cd05109	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	216	cd06633	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	211	cd06644	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	213	cd06659	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	214	cd06658	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	211	cd06655	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	206	cd06631	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	393	pfam07714	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	593	smart00219	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	213	cd05079	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	197	cd05589	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	212	cd07867	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	353	pfam00069	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	209	cd05118	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	212	cd07868	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	862	smart00221	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	224	cd07835	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	307	cd07840	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	245	cd07838	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	274	cd07829	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	231	cd06629	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	272	cd07830	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	226	cd07831	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	211	cd05074	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	212	cd05081	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	224	cd05035	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	229	cd06652	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	195	cd05082	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	214	cd06616	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	211	cd05080	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	203	cd08224	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	205	cd06653	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	209	cd08216	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	210	cd07869	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	237	cd07855	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	228	cd05094	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	218	cd05093	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	187	smart00750	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	205	cd06646	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	205	cd06645	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	212	cd06634	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	204	cd06620	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	210	cd06607	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	220	cd05092	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	207	cd05065	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	232	cd05100	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	232	cd05099	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	211	cd07880	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	212	cd06624	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	240	cd07865	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	248	cd05053	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	237	cd07850	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	223	cd05036	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	203	cd05073	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	200	cd05072	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	217	cd05062	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	249	cd06608	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	212	cd06637	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	199	cd05071	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	243	cd05043	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	199	cd05069	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	218	cd05061	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	205	cd05068	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	201	cd05052	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	205	cd06613	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	256	cd05049	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	206	cd06625	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	216	cd06612	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	287	cd05046	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	246	cd05039	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	202	cd05067	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	210	cd05034	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	199	cd05070	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	262	cd05032	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	211	cd05148	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	233	cd05050	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	264	cd05033	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	205	cd06630	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	185_G	cd05618	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	207	cd05047	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	192	cd05594	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	192	cd05604	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	192	cd05602	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	206	cd05040	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	192	cd05617	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	192	cd05588	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	192	cd05575	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	210	cd05087	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	224_G	cd05037	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	208	cd05077	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	434	cd00192	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	192	cd05603	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	192	cd05591	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	192	cd05590	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	195	cd05116	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	192	cd05084	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	222	cd06632	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238	cd05044	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	202_G	cd05060	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	206	cd05058	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	192	cd05619	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	207	cd05620	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	191	cd05595	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	208	cd05592	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	192	cd05571	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	205	cd05086	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	209	cd05042	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	217	cd05041	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	191	cd05593	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	193	cd05083	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	216	cd07837	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	202	cd08229	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	930	COG0515	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	210	cd06619	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	206	cd05597	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	201	cd07872	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	201	cd07873	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	204	cd06617	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	258	cd05629	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	262_G	cd05600	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	244	cd05626	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	244	cd05625	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	257	cd05598	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	434	cd05599	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	232	cd05627	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	232	cd05628	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	208	cd05601	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	204	cd05623	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	290_G	cd05574	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	210	cd06917	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	216	cd06621	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	204	cd06615	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	259	cd05580	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	206	cd07862	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	227	cd07847	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	444_G	cd05581	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	222	cd07846	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	246	cd07843	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	253	cd07833	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	220	cd06610	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	200	cd07871	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	226	cd07848	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	202	cd08228	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	213	cd05609	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	194	cd05612	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	220	cd05059	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	221	cd06622	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	220	cd06605	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	204	cd05624	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	341_G	cd05573	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	227	cd06609	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	219	cd07832	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	225	cd05045	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	250	cd05038	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	284	cd07834	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	214	cd05089	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	202	cd05587	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	197	cd05630	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	197	cd05615	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	234	cd07857	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	217	cd05613	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	205	cd05583	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	197	cd05632	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	209	cd07859	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	197	cd05631	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	241	cd05122	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	197	cd05616	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	247	cd07852	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	200	cd08221	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	202	cd08222	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	196	cd08219	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	269	cd08217	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	207	cd05578	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	266	cd08215	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	206	cd07863	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	200	cd07836	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	343	cd06606	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	196	cd07839	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	312	cd07842	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	203	cd08529	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	212	cd06628	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	243	cd06626	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	198	cd07861	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	197	cd08218	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	206	cd08220	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	198	cd08225	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	198	cd08223	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	217	cd07860	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	204	cd08530	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	241	cd06627	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	197	cd05605	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	205	cd06651	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	233	cd07841	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	221	cd07853	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	203	cd05614	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	219	cd08528	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	219	cd05088	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	202	cd07856	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	202	cd06650	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	210	cd06649	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	264	cd05057	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	215	cd07878	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	232	cd07851	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	261	cd07866	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	219	cd06618	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	194	cd05582	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	200	cd05611	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	200	cd05584	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	271	cd05051	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	204	cd06643	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	214	cd07864	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	239	cd05095	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	229	cd05097	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	201	cd07844	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	226	cd07854	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	206	cd06611	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	220	cd07849	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	224	cd05090	22035600,NP_004570
5871	215274019	Disease	p.Met210Lys	138079.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	227	cd05048	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	235	cd07858	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	219	cd05113	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	216	cd05114	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	215	cd05112	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	240	cd07870	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	215	cd06642	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	215	cd06640	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	215	cd06641	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	213	cd05115	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	222	cd05570	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	254	cd05056	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	907	smart00220	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	210	cd05085	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	222	cd08226	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	270	cd08227	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	281	cd06623	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	268	cd06614	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	263	cd05622	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	240	cd06636	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	263	cd05621	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	274	cd07876	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	244	cd07874	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	259	cd07845	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	240	cd07879	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238	cd06635	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	814	cd00180	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	296	cd05572	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	773	cd05579	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	833	cd05123	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	218	cd05577	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	203	cd05585	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	213	cd05586	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	193	cd05633	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	209	cd05607	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	210	cd05608	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	205	cd05606	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	254	cd06639	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	229	cd06648	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	229	cd06656	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	243	cd06638	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	264	cd05596	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	256	cd05098	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	253	cd05101	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	244	cd07877	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	229	cd06647	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd06654	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	229	cd06657	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	226	cd05111	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	226	cd05109	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	234	cd06633	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	229	cd06644	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	231	cd06659	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	232	cd06658	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	229	cd06655	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	224	cd06631	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	436	pfam07714	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	652	smart00219	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	234	cd05079	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	215	cd05589	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	272	cd07867	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	388	pfam00069	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	241	cd05118	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	254	cd07868	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	948	smart00221	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	262	cd07835	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	364	cd07840	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	283	cd07838	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	306	cd07829	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	247	cd06629	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	331	cd07830	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	252	cd07831	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd05074	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd05081	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	242	cd05035	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	244	cd06652	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	213	cd05082	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	233	cd06616	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd05080	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	224	cd08224	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	220	cd06653	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	225	cd08216	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	243	cd07869	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	271	cd07855	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	245	cd05094	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	236_G	cd05093	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	204	smart00750	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	223	cd06646	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	223	cd06645	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd06634	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	280	cd06620	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	228	cd06607	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238_G	cd05092	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	225	cd05065	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	251	cd05100	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	250	cd05099	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	233	cd07880	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd06624	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	279	cd07865	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	269	cd05053	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	274	cd07850	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	240	cd05036	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	221_G	cd05073	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	218	cd05072	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	236	cd05062	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	267	cd06608	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd06637	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	217	cd05071	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	264	cd05043	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	217	cd05069	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	237	cd05061	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	223	cd05068	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	216	cd05052	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	223	cd06613	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	271_G	cd05049	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	224	cd06625	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	234	cd06612	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	303	cd05046	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	221	cd05067	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	229	cd05034	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	217	cd05070	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	283	cd05032	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	253	cd05148	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	250	cd05050	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	284	cd05033	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	223	cd06630	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	200	cd05618	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	223	cd05047	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	212	cd05594	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	212	cd05604	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	206	cd05602	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	228	cd05040	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	209	cd05617	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	211	cd05588	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	206	cd05575	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	229	cd05087	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	243	cd05037	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	218	cd05077	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	467	cd00192	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	206	cd05603	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	211	cd05591	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	207_G	cd05590	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	213	cd05116	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	211	cd05084	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	241	cd06632	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	256	cd05044	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	220	cd05060	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	222_G	cd05058	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	204_G	cd05619	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	224	cd05620	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	211	cd05595	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	227	cd05592	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	210	cd05571	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	225	cd05086	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	231	cd05042	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	242	cd05041	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	211	cd05593	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	208	cd05083	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	241	cd07837	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	219	cd08229	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	996	COG0515	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	244	cd06619	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	226	cd05597	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	235	cd07872	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	235	cd07873	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	223	cd06617	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	278	cd05629	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	285	cd05600	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	264	cd05626	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	262	cd05625	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	277	cd05598	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	492	cd05599	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	253	cd05627	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	253	cd05628	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	234	cd05601	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	224	cd05623	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	308	cd05574	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	228	cd06917	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	231	cd06621	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	224	cd06615	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	280	cd05580	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd07862	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	253	cd07847	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	465	cd05581	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	254	cd07846	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	278	cd07843	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	310	cd07833	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238	cd06610	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	234	cd07871	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	271	cd07848	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	219	cd08228	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	231	cd05609	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	210_G	cd05612	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238	cd05059	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	242	cd06622	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	287	cd06605	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	224	cd05624	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	363	cd05573	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	246	cd06609	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	261	cd07832	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	243	cd05045	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	283	cd05038	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	355	cd07834	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd05089	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	221	cd05587	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	214	cd05630	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	215	cd05615	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	255	cd07857	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	235	cd05613	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	228	cd05583	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	214	cd05632	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	227	cd07859	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	214	cd05631	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	301	cd05122	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	215	cd05616	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	271	cd07852	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	218	cd08221	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	219	cd08222	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	214	cd08219	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	287	cd08217	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	227	cd05578	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	285	cd08215	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	242	cd07863	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd07836	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	367	cd06606	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	238	cd07839	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	375	cd07842	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	223	cd08529	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	230	cd06628	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	263	cd06626	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	237	cd07861	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	214	cd08218	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	223	cd08220	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	216	cd08225	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	215	cd08223	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	235	cd07860	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	221	cd08530	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	262	cd06627	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	214	cd05605	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	220	cd06651	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	277	cd07841	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	252	cd07853	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	221	cd05614	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	237	cd08528	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	235	cd05088	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	220	cd07856	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	221	cd06650	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	259	cd06649	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	280	cd05057	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	233	cd07878	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	262	cd07851	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	303	cd07866	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	236	cd06618	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	212	cd05582	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	302	cd05611	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	218	cd05584	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	319	cd05051	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	222	cd06643	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	235	cd07864	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	263	cd05095	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	248	cd05097	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	220	cd07844	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	245	cd07854	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	224	cd06611	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	246	cd07849	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	241	cd05090	22035600,NP_004570
5871	215274019	Disease	p.Thr228Met	138079.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	DIABETES MELLITUS, PERMANENT NEONATAL||MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	268	cd05048	22035600,NP_004570
5871	215274019	Disease	p.Ala456Val	138079.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	No Domain	N/A	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	213	cd07858	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	205	cd05113	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	202	cd05114	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	201_G	cd05112	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	225	cd07870	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	201	cd06642	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	201	cd06640	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	201	cd06641	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	199	cd05115	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	197_G	cd05570	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	240	cd05056	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	795	smart00220	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	196	cd05085	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	210	cd08226	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	254	cd08227	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	259	cd06623	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	254	cd06614	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	247	cd05622	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	226	cd06636	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	247	cd05621	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	242	cd07876	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	221	cd07874	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	223	cd07845	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	226	cd07879	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	224	cd06635	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	685	cd00180	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	271	cd05572	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	744	cd05579	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	811_G	cd05123	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	200_G	cd05577	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	193	cd05585	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	197	cd05586	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	186	cd05633	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	195	cd05607	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	196_G	cd05608	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	191	cd05606	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	240	cd06639	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	216	cd06648	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	215	cd06656	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	229	cd06638	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	248	cd05596	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	242	cd05098	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	239	cd05101	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	221	cd07877	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	215	cd06647	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	216	cd06654	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	216	cd06657	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	212	cd05111	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	211	cd05109	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	220	cd06633	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	215	cd06644	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	217	cd06659	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	218	cd06658	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	215	cd06655	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	210	cd06631	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	413	pfam07714	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	613	smart00219	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	217	cd05079	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	201	cd05589	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	229	cd07867	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	363	pfam00069	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	222	cd05118	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	229	cd07868	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	866	smart00221	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	248	cd07835	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	328	cd07840	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	249	cd07838	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	291	cd07829	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	237	cd06629	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	275	cd07830	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	230	cd07831	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	216	cd05074	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	216	cd05081	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	228	cd05035	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	233	cd06652	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	199	cd05082	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	215_G	cd06616	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	215	cd05080	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	206_G	cd08224	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	209	cd06653	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	213	cd08216	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	214	cd07869	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	241	cd07855	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	233	cd05094	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	223	cd05093	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	191	smart00750	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	209	cd06646	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	209	cd06645	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	216	cd06634	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	211	cd06620	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	214	cd06607	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	225	cd05092	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	211	cd05065	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	237	cd05100	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	236	cd05099	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	215	cd07880	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	216	cd06624	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	258	cd07865	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	256	cd05053	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	245	cd07850	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	225	cd05036	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	208	cd05073	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	204	cd05072	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	222	cd05062	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	253	cd06608	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	216	cd06637	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	203	cd05071	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	248	cd05043	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	203	cd05069	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	223	cd05061	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	209	cd05068	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	202_G	cd05052	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	209	cd06613	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	260	cd05049	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	210	cd06625	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	220	cd06612	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	289	cd05046	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	253	cd05039	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	206	cd05067	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	215	cd05034	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	203	cd05070	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	268	cd05032	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	236	cd05148	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	236	cd05050	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	268	cd05033	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	209	cd06630	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	186	cd05618	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	211	cd05047	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	196	cd05594	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	196	cd05604	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	196	cd05602	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	214	cd05040	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	195_G	cd05617	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	195_G	cd05588	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	196	cd05575	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	215	cd05087	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	225	cd05037	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	208_G	cd05077	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	442	cd00192	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	196	cd05603	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	195_G	cd05591	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	195_G	cd05590	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	199	cd05116	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	197	cd05084	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	226	cd06632	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	242	cd05044	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	206	cd05060	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	210	cd05058	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	195_G	cd05619	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	210_G	cd05620	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	195	cd05595	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	211_G	cd05592	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	196	cd05571	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	210	cd05086	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	217	cd05042	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	221	cd05041	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	195	cd05593	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	194_G	cd05083	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	219	cd07837	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	205_G	cd08229	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	934	COG0515	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	214	cd06619	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	210	cd05597	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	204	cd07872	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	204	cd07873	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	208	cd06617	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	262	cd05629	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	263	cd05600	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	248	cd05626	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	248	cd05625	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	261	cd05598	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	439	cd05599	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	236	cd05627	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	236	cd05628	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	211_G	cd05601	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	208	cd05623	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	291	cd05574	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	214	cd06917	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	220	cd06621	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	210	cd06615	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	263	cd05580	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	209	cd07862	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	236	cd07847	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	445	cd05581	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	240	cd07846	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	251	cd07843	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	259	cd07833	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	224	cd06610	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	203	cd07871	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	256	cd07848	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	205_G	cd08228	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	217	cd05609	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	198	cd05612	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	224	cd05059	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	228	cd06622	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	224	cd06605	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	208	cd05624	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	345	cd05573	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	231	cd06609	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	245	cd07832	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	230	cd05045	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	255	cd05038	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	299	cd07834	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	218	cd05089	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	205_G	cd05587	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	200_G	cd05630	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	201	cd05615	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	242	cd07857	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	221	cd05613	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	208_G	cd05583	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	200_G	cd05632	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	213	cd07859	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	200_G	cd05631	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	245	cd05122	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	201	cd05616	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	254	cd07852	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	204	cd08221	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	205	cd08222	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	199_G	cd08219	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	272_G	cd08217	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	210_G	cd05578	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	269_G	cd08215	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	209	cd07863	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	203	cd07836	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	347	cd06606	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	200	cd07839	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	315	cd07842	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	206_G	cd08529	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	216	cd06628	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	247	cd06626	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	202	cd07861	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	200	cd08218	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	209	cd08220	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	201_G	cd08225	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	201	cd08223	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	221	cd07860	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	207_G	cd08530	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	245	cd06627	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	200_G	cd05605	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	209	cd06651	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	238	cd07841	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	227	cd07853	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	207	cd05614	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	222_G	cd08528	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	223	cd05088	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	206	cd07856	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	207	cd06650	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	237	cd06649	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	266	cd05057	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	219	cd07878	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	235	cd07851	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	262	cd07866	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	222_G	cd06618	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	198	cd05582	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	204	cd05611	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	204	cd05584	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	302	cd05051	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	208	cd06643	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	220	cd07864	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	245	cd05095	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	234_G	cd05097	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	205	cd07844	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	230	cd07854	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	210	cd06611	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	224	cd07849	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	227	cd05090	22035600,NP_004570
5871	215274019	Disease	p.Tyr214Cys	138079.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	250	cd05048	22035600,NP_004570
5871	215274019	Disease	p.Ala378Thr	138079.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	365_G	cd05586	22035600,NP_004570
5871	215274019	Disease	p.Ala378Thr	138079.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II	OMIM	1339	COG0515	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	90	cd07858	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	79	cd05113	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	79	cd05114	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	79	cd05112	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	83	cd07870	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	82	cd06642	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	82	cd06640	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	82	cd06641	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	74	cd05115	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	78	cd05570	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	115	cd05056	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	303	smart00220	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	73	cd05085	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	79	cd08226	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	79	cd08227	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	104	cd06623	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	110	cd06614	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	123	cd05622	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	99	cd06636	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	123	cd05621	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	106	cd07876	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	102	cd07874	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	88	cd07845	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	96	cd07879	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	105	cd06635	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	247	cd00180	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	122	cd05572	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	75	cd05579	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	114	cd05123	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	76	cd05577	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	73	cd05585	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	76	cd05586	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	77	cd05633	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	73	cd05607	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	73	cd05608	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	78	cd05606	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	111	cd06639	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	96	cd06648	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	96	cd06656	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	100	cd06638	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	123	cd05596	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	104	cd05098	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	101	cd05101	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	101	cd07877	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	96	cd06647	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	97	cd06654	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	97	cd06657	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	89	cd05111	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd05109	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	101	cd06633	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	89	cd06644	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	98	cd06659	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	99	cd06658	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	96	cd06655	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	84	cd06631	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	131	pfam07714	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	244	smart00219	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	88	cd05079	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	82	cd05589	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd07867	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	136	pfam00069	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	88	cd05118	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd07868	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	372	smart00221	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	86	cd07835	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	123	cd07840	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	104	cd07838	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	107	cd07829	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	88	cd06629	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	120	cd07830	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd07831	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	87	cd05074	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	87	cd05081	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	97	cd05035	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	86	cd06652	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd05082	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	90	cd06616	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	88	cd05080	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	83	cd08224	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	86	cd06653	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd08216	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	83	cd07869	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	108	cd07855	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	87	cd05094	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	87	cd05093	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	86	cd06646	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	86	cd06645	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	95	cd06634	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	85	cd06620	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	95	cd06607	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	87	cd05092	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	85	cd05065	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	98	cd05100	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	98	cd05099	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	100	cd07880	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	90	cd06624	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	104	cd07865	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	98	cd05053	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	102	cd07850	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	89	cd05036	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd05073	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd05072	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	89	cd05062	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	119	cd06608	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	89	cd06637	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd05071	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	112	cd05043	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd05069	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	89	cd05061	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd05068	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	82	cd05052	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	82	cd06613	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	90	cd05049	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	86	cd06625	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	91	cd06612	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	148	cd05046	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	84	cd05039	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd05067	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd05034	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd05070	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	122	cd05032	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	83	cd05148	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	88	cd05050	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	109	cd05033	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	83	cd06630	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	76	cd05618	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	76	cd05047	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	75	cd05594	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	76	cd05604	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	76	cd05602	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd05040	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	76	cd05617	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	76	cd05588	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	76	cd05575	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	75	cd05087	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	96	cd05037	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	84	cd05077	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	142	cd00192	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	76	cd05603	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	76	cd05591	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	76	cd05590	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	75	cd05116	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	73	cd05084	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	99	cd06632	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	79	cd05044	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd05060	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	84	cd05058	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	76	cd05619	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	76	cd05620	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	75	cd05595	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	76	cd05592	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	75	cd05571	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	75	cd05086	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	78	cd05042	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	74	cd05041	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	75	cd05593	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	78	cd05083	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	93	cd07837	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	82	cd08229	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	428	COG0515	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	100	cd06619	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd05597	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	84	cd07872	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	84	cd07873	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd06617	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd05629	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	82	cd05600	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd05626	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd05625	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	82	cd05598	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	248	cd05599	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd05627	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd05628	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd05601	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd05623	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	101	cd05574	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	88	cd06917	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	84	cd06621	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	79	cd06615	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	129	cd05580	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	89	cd07862	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd07847	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	132	cd05581	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd07846	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	94	cd07843	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	102	cd07833	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd06610	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	83	cd07871	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	109	cd07848	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	82	cd08228	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd05609	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd05612	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	79	cd05059	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	79	cd06622	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	84	cd06605	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd05624	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	135	cd05573	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	95	cd06609	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	92	cd07832	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	83	cd05045	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	98	cd05038	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	123	cd07834	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	83	cd05089	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	86	cd05587	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd05630	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd05615	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	90	cd07857	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	85	cd05613	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	85	cd05583	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd05632	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	84	cd07859	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd05631	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	104	cd05122	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd05616	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	90	cd07852	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	79	cd08221	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	83	cd08222	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	78	cd08219	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd08217	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd05578	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	106	cd08215	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	88	cd07863	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	78	cd07836	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	155	cd06606	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	79	cd07839	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	176	cd07842	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	84	cd08529	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	88	cd06628	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	82	cd06626	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd07861	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	79	cd08218	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	81	cd08220	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	79	cd08225	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd08223	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	79	cd07860	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	82	cd08530	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	85	cd06627	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd05605	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	86	cd06651	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	95	cd07841	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	85	cd07853	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	85	cd05614	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	98	cd08528	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	88	cd05088	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	90	cd07856	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	83	cd06650	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	83	cd06649	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	138	cd05057	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	100	cd07878	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	110	cd07851	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	109	cd07866	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	94	cd06618	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	78	cd05582	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	77	cd05611	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	84	cd05584	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	122	cd05051	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	82	cd06643	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	97	cd07864	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	102	cd05095	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	99	cd05097	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	83	cd07844	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	99	cd07854	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	84	cd06611	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	80	cd07849	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	87	cd05090	22035600,NP_004570
5871	215274019	Disease	p.Val91Leu	138079.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138079	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	OMIM	89	cd05048	22035600,NP_004570
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	118	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	652	smart00430	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd06930	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	157	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	148	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	154	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	118	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	109	cd06157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	113	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	130	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	119	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528642	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	118	cd06929	NULL
2908	66528642	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	652	smart00430	NULL
2908	66528642	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd06930	NULL
2908	66528642	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	157	cd07068	NULL
2908	66528642	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	148	cd06946	NULL
2908	66528642	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	154	cd06943	NULL
2908	66528642	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	118	cd06931	NULL
2908	66528642	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	109	cd06157	NULL
2908	66528642	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07076	NULL
2908	66528642	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07074	NULL
2908	66528642	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07075	NULL
2908	66528642	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07073	NULL
2908	66528642	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd06947	NULL
2908	66528642	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	113	pfam00104	NULL
2908	66528642	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	130	cd06949	NULL
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	118	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	652	smart00430	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd06930	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	157	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	148	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	154	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	118	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	109	cd06157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	113	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	130	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	119	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	118	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	652	smart00430	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd06930	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	157	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	148	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	154	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	118	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	109	cd06157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	113	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	130	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	119	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	118	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	652	smart00430	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd06930	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	157	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	148	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	154	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	118	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	109	cd06157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	113	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	130	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	119	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528677	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	117	cd06931	NULL
2908	66528677	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	110	cd07075	NULL
2908	66528677	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	110	cd07076	NULL
2908	66528677	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	110	cd07074	NULL
2908	66528677	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	110	cd07073	NULL
2908	66528677	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	110	cd06947	NULL
2908	66528677	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	112	pfam00104	NULL
2908	66528677	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	156	cd07068	NULL
2908	66528677	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	147	cd06946	NULL
2908	66528677	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	153	cd06943	NULL
2908	66528677	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	108	cd06157	NULL
2908	66528677	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	110	cd06930	NULL
2908	66528677	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	117	cd06929	NULL
2908	66528677	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	651	smart00430	NULL
2908	66528677	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	129	cd06949	NULL
2908	66528677	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	118	cd06944	NULL
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	118	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	652	smart00430	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd06930	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	157	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	148	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	154	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	118	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	109	cd06157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	111	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	113	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	130	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	138040.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	119	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	280	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	263	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	226	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	305	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	305	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	223	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	224	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	377	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	247	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	238	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528642	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	No Domain	N/A	NULL
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	280	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	263	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	226	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	305	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	305	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	223	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	224	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	377	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	247	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	238	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	280	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	263	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	226	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	305	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	305	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	223	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	224	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	377	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	247	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	238	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	280	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	263	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	226	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	305	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	305	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	223	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	224	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	377	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	247	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	238	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528677	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	304	cd07075	NULL
2908	66528677	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	222	cd07076	NULL
2908	66528677	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	223	cd07074	NULL
2908	66528677	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	225	cd07073	NULL
2908	66528677	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	304	cd06947	NULL
2908	66528677	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	374	pfam00104	NULL
2908	66528677	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	279	cd07068	NULL
2908	66528677	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	262	cd06946	NULL
2908	66528677	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	246	cd06949	NULL
2908	66528677	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	237	cd06944	NULL
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	280	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	263	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	226	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	305	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	305	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	223	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	224	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	377	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	247	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu753Phe	138040.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, CELLULAR	OMIM	238	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
79742	193804856	Disease	p.Leu753Phe	138040.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Leu753Phe	138040.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
79742	193804856	Disease	p.Leu753Phe	138040.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Leu753Phe	138040.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
79742	193804856	Disease	p.Leu753Phe	138040.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Leu753Phe	138040.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
2908	121069	Disease	p.Asn363Ser	138040.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RECEPTOR POLYMORPHISM	OMIM	369	pfam02155	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528642	Disease	p.Asn363Ser	138040.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RECEPTOR POLYMORPHISM	OMIM	369	pfam02155	NULL
2908	121069	Disease	p.Asn363Ser	138040.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RECEPTOR POLYMORPHISM	OMIM	369	pfam02155	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asn363Ser	138040.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RECEPTOR POLYMORPHISM	OMIM	369	pfam02155	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asn363Ser	138040.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RECEPTOR POLYMORPHISM	OMIM	369	pfam02155	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528677	Disease	p.Asn363Ser	138040.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RECEPTOR POLYMORPHISM	OMIM	369	pfam02155	NULL
2908	121069	Disease	p.Asn363Ser	138040.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RECEPTOR POLYMORPHISM	OMIM	369	pfam02155	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	6	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	67	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	67	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	42	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	34	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	40	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	39	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528642	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	6	cd06929	NULL
2908	66528642	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	67	cd07068	NULL
2908	66528642	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	67	cd06946	NULL
2908	66528642	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	42	cd06943	NULL
2908	66528642	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	34	cd06931	NULL
2908	66528642	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07076	NULL
2908	66528642	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07074	NULL
2908	66528642	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07075	NULL
2908	66528642	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07073	NULL
2908	66528642	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd06947	NULL
2908	66528642	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	40	cd06949	NULL
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	6	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	67	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	67	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	42	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	34	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	40	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	39	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	6	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	67	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	67	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	42	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	34	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	40	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	39	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	6	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	67	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	67	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	42	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	34	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	40	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	39	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528677	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	33	cd06931	NULL
2908	66528677	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	28	cd07075	NULL
2908	66528677	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	28	cd07076	NULL
2908	66528677	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	28	cd07074	NULL
2908	66528677	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	28	cd07073	NULL
2908	66528677	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	28	cd06947	NULL
2908	66528677	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	66	cd07068	NULL
2908	66528677	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	66	cd06946	NULL
2908	66528677	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	41	cd06943	NULL
2908	66528677	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	5	cd06929	NULL
2908	66528677	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	39	cd06949	NULL
2908	66528677	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	35	cd06944	NULL
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	6	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	67	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	67	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	42	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	34	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	29	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	40	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	138040.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	39	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	272	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	255	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	228	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	220	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	299	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	299	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	217	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	218	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	369	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	243	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	230	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528642	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	No Domain	N/A	NULL
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	272	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	255	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	228	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	220	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	299	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	299	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	217	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	218	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	369	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	243	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	230	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	272	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	255	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	228	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	220	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	299	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	299	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	217	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	218	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	369	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	243	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	230	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	272	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	255	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	228	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	220	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	299	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	299	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	217	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	218	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	369	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	243	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	230	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528677	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	227	cd06931	NULL
2908	66528677	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	298	cd07075	NULL
2908	66528677	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	216	cd07076	NULL
2908	66528677	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	217	cd07074	NULL
2908	66528677	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	219	cd07073	NULL
2908	66528677	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	298	cd06947	NULL
2908	66528677	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	368	pfam00104	NULL
2908	66528677	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	271	cd07068	NULL
2908	66528677	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	254	cd06946	NULL
2908	66528677	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	242	cd06949	NULL
2908	66528677	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	229	cd06944	NULL
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	272	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	255	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	228	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	220	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	299	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	299	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	217	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	218	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	369	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	243	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	138040.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, FAMILIAL	OMIM	230	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	18	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	5	smart00430	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	12	cd06930	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	79	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	79	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	54	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	48	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	11	cd06157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	52	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	54	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528642	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	18	cd06929	NULL
2908	66528642	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	5	smart00430	NULL
2908	66528642	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	12	cd06930	NULL
2908	66528642	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	79	cd07068	NULL
2908	66528642	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	79	cd06946	NULL
2908	66528642	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	54	cd06943	NULL
2908	66528642	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	48	cd06931	NULL
2908	66528642	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	11	cd06157	NULL
2908	66528642	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07076	NULL
2908	66528642	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07074	NULL
2908	66528642	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07075	NULL
2908	66528642	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07073	NULL
2908	66528642	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd06947	NULL
2908	66528642	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	52	cd06949	NULL
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	18	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	5	smart00430	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	12	cd06930	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	79	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	79	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	54	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	48	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	11	cd06157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	52	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	54	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	18	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	5	smart00430	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	12	cd06930	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	79	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	79	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	54	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	48	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	11	cd06157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	52	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	54	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	18	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	5	smart00430	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	12	cd06930	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	79	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	79	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	54	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	48	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	11	cd06157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	52	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	54	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528677	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	47	cd06931	NULL
2908	66528677	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	40	cd07075	NULL
2908	66528677	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	40	cd07076	NULL
2908	66528677	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	40	cd07074	NULL
2908	66528677	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	40	cd07073	NULL
2908	66528677	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	40	cd06947	NULL
2908	66528677	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	78	cd07068	NULL
2908	66528677	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	78	cd06946	NULL
2908	66528677	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	53	cd06943	NULL
2908	66528677	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	10	cd06157	NULL
2908	66528677	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	11	cd06930	NULL
2908	66528677	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	17	cd06929	NULL
2908	66528677	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	4	smart00430	NULL
2908	66528677	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	51	cd06949	NULL
2908	66528677	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	53	cd06944	NULL
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	18	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	5	smart00430	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	12	cd06930	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	79	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	79	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	54	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	48	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	11	cd06157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	41	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	52	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val571Ala	138040.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE	OMIM	54	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	246	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	325	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	325	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	243	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	244	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528642	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	No Domain	N/A	NULL
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	246	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	325	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	325	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	243	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	244	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	246	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	325	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	325	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	243	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	244	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	246	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	325	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	325	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	243	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	244	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528677	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	324	cd07075	NULL
2908	66528677	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	242	cd07076	NULL
2908	66528677	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	243	cd07074	NULL
2908	66528677	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	245	cd07073	NULL
2908	66528677	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	324	cd06947	NULL
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	246	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	325	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	325	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	243	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Leu773Pro	138040.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	244	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd07166	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd07162	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd06959	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd06965	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	125	smart00399	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	71	cd07163	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	64	cd06961	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	65	cd06955	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	66	cd06970	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	65	cd07169	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	66	cd07168	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd07173	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd07171	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd06967	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd06956	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	69	cd07157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd06966	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd06964	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	pfam00105	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd06969	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd06962	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd07161	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	79	cd07160	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	70	cd07172	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd07155	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd06957	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd07164	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd07165	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd07158	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd07156	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd07154	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	75	cd06916	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	65	cd07179	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd06960	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	64	cd06968	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd06963	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd06958	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd07167	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd07170	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd07166	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd07162	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd06959	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd06965	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	125	smart00399	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	71	cd07163	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	64	cd06961	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	65	cd06955	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	66	cd06970	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	65	cd07169	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	66	cd07168	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd07173	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd07171	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd06967	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd06956	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	69	cd07157	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd06966	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd06964	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	pfam00105	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd06969	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd06962	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd07161	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	79	cd07160	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	70	cd07172	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd07155	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd06957	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd07164	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd07165	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd07158	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd07156	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd07154	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	75	cd06916	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	65	cd07179	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd06960	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	64	cd06968	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd06963	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd06958	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd07167	NULL
2908	66528642	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd07170	NULL
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd07166	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd07162	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd06959	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd06965	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	125	smart00399	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	71	cd07163	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	64	cd06961	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	65	cd06955	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	66	cd06970	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	65	cd07169	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	66	cd07168	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd07173	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd07171	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd06967	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd06956	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	69	cd07157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd06966	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd06964	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	pfam00105	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd06969	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd06962	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd07161	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	79	cd07160	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	70	cd07172	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd07155	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd06957	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd07164	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd07165	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd07158	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd07156	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd07154	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	75	cd06916	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	65	cd07179	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd06960	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	64	cd06968	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd06963	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd06958	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd07167	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd07170	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd07166	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd07162	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd06959	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd06965	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	125	smart00399	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	71	cd07163	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	64	cd06961	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	65	cd06955	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	66	cd06970	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	65	cd07169	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	66	cd07168	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd07173	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd07171	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd06967	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd06956	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	69	cd07157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd06966	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd06964	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	pfam00105	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd06969	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd06962	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd07161	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	79	cd07160	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	70	cd07172	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd07155	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd06957	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd07164	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd07165	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd07158	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd07156	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd07154	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	75	cd06916	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	65	cd07179	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd06960	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	64	cd06968	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd06963	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd06958	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd07167	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd07170	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd07166	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd07162	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd06959	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd06965	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	125	smart00399	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	71	cd07163	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	64	cd06961	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	65	cd06955	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	66	cd06970	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	65	cd07169	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	66	cd07168	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd07173	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd07171	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd06967	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd06956	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	69	cd07157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd06966	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd06964	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	pfam00105	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd06969	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd06962	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd07161	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	79	cd07160	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	70	cd07172	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd07155	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd06957	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd07164	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd07165	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd07158	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd07156	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd07154	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	75	cd06916	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	65	cd07179	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd06960	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	64	cd06968	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd06963	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd06958	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd07167	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd07170	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	70	cd07163	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	61	cd06965	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd07162	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	124	smart00399	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd06959	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd07166	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd06961	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	64	cd07169	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	65	cd07168	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	65	cd06970	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	64	cd06955	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	61	cd07173	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd07171	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	61	cd06967	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd06964	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd06969	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	pfam00105	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd06966	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd06956	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	68	cd07157	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd06962	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd07161	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	78	cd07160	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	69	cd07172	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	64	cd07179	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd07167	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	56	cd07165	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	56	cd07164	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd06960	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	56	cd06958	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	56	cd06963	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd06957	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	56	cd07155	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd06968	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd07158	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd07156	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd07154	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	74	cd06916	NULL
2908	66528677	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd07170	NULL
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd07166	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd07162	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd06959	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd06965	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	125	smart00399	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	71	cd07163	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	64	cd06961	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	65	cd06955	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	66	cd06970	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	65	cd07169	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	66	cd07168	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd07173	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd07171	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	62	cd06967	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd06956	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	69	cd07157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd06966	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd06964	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	pfam00105	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd06969	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd06962	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd07161	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	79	cd07160	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	70	cd07172	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd07155	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd06957	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd07164	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd07165	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	58	cd07158	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd07156	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	59	cd07154	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	75	cd06916	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	65	cd07179	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd06960	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	64	cd06968	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd06963	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	57	cd06958	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	60	cd07167	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	138040.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	63	cd07170	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	161	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	766	smart00430	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	178	cd06930	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	206	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	183	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	189	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	159	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	155	cd06157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	204	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	179	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	169	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528642	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	161	cd06929	NULL
2908	66528642	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	766	smart00430	NULL
2908	66528642	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	178	cd06930	NULL
2908	66528642	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	206	cd07068	NULL
2908	66528642	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	189	cd06946	NULL
2908	66528642	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	189	cd06943	NULL
2908	66528642	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	159	cd06931	NULL
2908	66528642	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	155	cd06157	NULL
2908	66528642	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07076	NULL
2908	66528642	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07074	NULL
2908	66528642	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07075	NULL
2908	66528642	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07073	NULL
2908	66528642	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd06947	NULL
2908	66528642	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	204	pfam00104	NULL
2908	66528642	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	179	cd06949	NULL
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	161	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	766	smart00430	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	178	cd06930	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	206	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	183	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	189	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	159	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	155	cd06157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	204	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	179	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	169	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	161	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	766	smart00430	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	178	cd06930	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	206	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	183	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	189	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	159	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	155	cd06157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	204	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	179	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	169	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	161	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	766	smart00430	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	178	cd06930	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	206	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	183	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	189	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	159	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	155	cd06157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	204	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	179	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	169	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528677	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	158_G	cd06931	NULL
2908	66528677	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	148	cd07075	NULL
2908	66528677	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	148	cd07076	NULL
2908	66528677	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	148	cd07074	NULL
2908	66528677	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	148	cd07073	NULL
2908	66528677	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	148	cd06947	NULL
2908	66528677	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	203	pfam00104	NULL
2908	66528677	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	205	cd07068	NULL
2908	66528677	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	182	cd06946	NULL
2908	66528677	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	188_G	cd06943	NULL
2908	66528677	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	146	cd06157	NULL
2908	66528677	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd06930	NULL
2908	66528677	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	160	cd06929	NULL
2908	66528677	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	765	smart00430	NULL
2908	66528677	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	178	cd06949	NULL
2908	66528677	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	168	cd06944	NULL
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	161	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	766	smart00430	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	178	cd06930	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	206	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	183	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	189	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	159	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	155	cd06157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	149	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	204	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	179	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	138040.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	169	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	262	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	245	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	217	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	207	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	232	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	232	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	207	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	207	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	351	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	233	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	224	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528642	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	223	cd07076	NULL
2908	66528642	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	224	cd07074	NULL
2908	66528642	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	320	cd07075	NULL
2908	66528642	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	226	cd07073	NULL
2908	66528642	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	317	cd06947	NULL
2908	66528642	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	360	pfam00104	NULL
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	262	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	245	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	217	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	207	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	232	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	232	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	207	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	207	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	351	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	233	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	224	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	262	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	245	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	217	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	207	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	232	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	232	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	207	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	207	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	351	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	233	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	224	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	262	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	245	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	217	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	207	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	232	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	232	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	207	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	207	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	351	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	233	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	224	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	66528677	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	215	cd06931	NULL
2908	66528677	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	231	cd07075	NULL
2908	66528677	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	206	cd07076	NULL
2908	66528677	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	206	cd07074	NULL
2908	66528677	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	206	cd07073	NULL
2908	66528677	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	231	cd06947	NULL
2908	66528677	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	344	pfam00104	NULL
2908	66528677	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	261	cd07068	NULL
2908	66528677	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	244	cd06946	NULL
2908	66528677	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	232	cd06949	NULL
2908	66528677	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	223	cd06944	NULL
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	262	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	245	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	217	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	207	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	232	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	232	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	207	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	207	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	351	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	233	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Phe737Leu	138040.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138040	GLUCOCORTICOID RESISTANCE, GENERALIZED	OMIM	224	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2642	1346144	Disease	p.Gly40Ser	138033.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=138033	DIABETES MELLITUS, TYPE II	OMIM	No Domain	N/A	4503947,NP_000151
4358	730059	Disease	p.Arg50Gln	137960.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137960	MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM||NAVAJO NEUROHEPATOPATHY	OMIM	No Domain	N/A	4505241,NP_002428
4358	730059	Disease	p.Asn166Lys	137960.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137960	MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	76	pfam04117	4505241,NP_002428
4358	730059	Disease	p.Arg50Trp	137960.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137960	MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	No Domain	N/A	4505241,NP_002428
4358	730059	Disease	p.Gly24Trp	137960.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137960	MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM	OMIM	No Domain	N/A	4505241,NP_002428
2670	121135	Disease	p.Arg239Cys	137780.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	239	pfam00038	4503979,NP_002046
2670	196115290	Disease	p.Arg239Cys	137780.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	239	pfam00038	NULL
2670	121135	Disease	p.Arg239His	137780.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	239	pfam00038	4503979,NP_002046
2670	196115290	Disease	p.Arg239His	137780.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	239	pfam00038	NULL
2670	121135	Disease	p.Arg416Trp	137780.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	No Domain	N/A	4503979,NP_002046
2670	196115290	Disease	p.Arg416Trp	137780.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	No Domain	N/A	NULL
2670	121135	Disease	p.Arg79His	137780.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	12	pfam00038	4503979,NP_002046
2670	196115290	Disease	p.Arg79His	137780.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	12	pfam00038	NULL
2670	121135	Disease	p.Arg79Cys	137780.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	12	pfam00038	4503979,NP_002046
2670	196115290	Disease	p.Arg79Cys	137780.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	12	pfam00038	NULL
2670	121135	Disease	p.Arg88Cys	137780.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	21	pfam00038	4503979,NP_002046
2670	196115290	Disease	p.Arg88Cys	137780.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	21	pfam00038	NULL
2670	121135	Disease	p.Arg88Ser	137780.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	21	pfam00038	4503979,NP_002046
2670	196115290	Disease	p.Arg88Ser	137780.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	21	pfam00038	NULL
2670	121135	Disease	p.Leu76Phe	137780.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	9	pfam00038	4503979,NP_002046
2670	196115290	Disease	p.Leu76Phe	137780.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	9	pfam00038	NULL
2670	121135	Disease	p.Asn77Tyr	137780.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	10	pfam00038	4503979,NP_002046
2670	196115290	Disease	p.Asn77Tyr	137780.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	10	pfam00038	NULL
2670	121135	Disease	p.Glu362Asp	137780.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	369	pfam00038	4503979,NP_002046
2670	196115290	Disease	p.Glu362Asp	137780.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	369	pfam00038	NULL
2670	121135	Disease	p.Arg276Leu	137780.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	276	pfam00038	4503979,NP_002046
2670	196115290	Disease	p.Arg276Leu	137780.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	276	pfam00038	NULL
2670	121135	Disease	p.Leu352Pro	137780.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	359	pfam00038	4503979,NP_002046
2670	196115290	Disease	p.Leu352Pro	137780.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	359	pfam00038	NULL
2670	121135	Disease	p.Asp78Glu	137780.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	11	pfam00038	4503979,NP_002046
2670	196115290	Disease	p.Asp78Glu	137780.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137780	ALEXANDER DISEASE	OMIM	11	pfam00038	NULL
2934	189083772	Disease	p.Asp187Asn	137350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE||AMYLOIDOSIS, MERETOJA TYPE	OMIM	171	smart00262	NULL
2934	189083772	Disease	p.Asp187Asn	137350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE||AMYLOIDOSIS, MERETOJA TYPE	OMIM	56	pfam00626	NULL
2934	189083776	Disease	p.Asp187Asn	137350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE||AMYLOIDOSIS, MERETOJA TYPE	OMIM	171	smart00262	NULL
2934	189083776	Disease	p.Asp187Asn	137350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE||AMYLOIDOSIS, MERETOJA TYPE	OMIM	56	pfam00626	NULL
2934	189083780	Disease	p.Asp187Asn	137350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE||AMYLOIDOSIS, MERETOJA TYPE	OMIM	43	pfam00626	NULL
2934	189083780	Disease	p.Asp187Asn	137350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE||AMYLOIDOSIS, MERETOJA TYPE	OMIM	160	smart00262	NULL
2934	189083782	Disease	p.Asp187Asn	137350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE||AMYLOIDOSIS, MERETOJA TYPE	OMIM	43	pfam00626	NULL
2934	189083782	Disease	p.Asp187Asn	137350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE||AMYLOIDOSIS, MERETOJA TYPE	OMIM	160	smart00262	NULL
2934	38044288	Disease	p.Asp187Asn	137350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE||AMYLOIDOSIS, MERETOJA TYPE	OMIM	171	smart00262	NULL
2934	38044288	Disease	p.Asp187Asn	137350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE||AMYLOIDOSIS, MERETOJA TYPE	OMIM	56	pfam00626	NULL
2934	189083774	Disease	p.Asp187Asn	137350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE||AMYLOIDOSIS, MERETOJA TYPE	OMIM	171	smart00262	NULL
2934	189083774	Disease	p.Asp187Asn	137350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE||AMYLOIDOSIS, MERETOJA TYPE	OMIM	56	pfam00626	NULL
2934	189083778	Disease	p.Asp187Asn	137350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE||AMYLOIDOSIS, MERETOJA TYPE	OMIM	171	smart00262	NULL
2934	189083778	Disease	p.Asp187Asn	137350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE||AMYLOIDOSIS, MERETOJA TYPE	OMIM	56	pfam00626	NULL
2934	121116	Disease	p.Asp187Asn	137350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE||AMYLOIDOSIS, MERETOJA TYPE	OMIM	No Domain	N/A	4504165,NP_000168
2934	189083772	Disease	p.Asp187Tyr	137350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE	OMIM	171	smart00262	NULL
2934	189083772	Disease	p.Asp187Tyr	137350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE	OMIM	56	pfam00626	NULL
2934	189083776	Disease	p.Asp187Tyr	137350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE	OMIM	171	smart00262	NULL
2934	189083776	Disease	p.Asp187Tyr	137350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE	OMIM	56	pfam00626	NULL
2934	189083780	Disease	p.Asp187Tyr	137350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE	OMIM	43	pfam00626	NULL
2934	189083780	Disease	p.Asp187Tyr	137350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE	OMIM	160	smart00262	NULL
2934	189083782	Disease	p.Asp187Tyr	137350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE	OMIM	43	pfam00626	NULL
2934	189083782	Disease	p.Asp187Tyr	137350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE	OMIM	160	smart00262	NULL
2934	38044288	Disease	p.Asp187Tyr	137350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE	OMIM	171	smart00262	NULL
2934	38044288	Disease	p.Asp187Tyr	137350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE	OMIM	56	pfam00626	NULL
2934	189083774	Disease	p.Asp187Tyr	137350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE	OMIM	171	smart00262	NULL
2934	189083774	Disease	p.Asp187Tyr	137350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE	OMIM	56	pfam00626	NULL
2934	189083778	Disease	p.Asp187Tyr	137350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE	OMIM	171	smart00262	NULL
2934	189083778	Disease	p.Asp187Tyr	137350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE	OMIM	56	pfam00626	NULL
2934	121116	Disease	p.Asp187Tyr	137350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137350	AMYLOIDOSIS, FAMILIAL, FINNISH TYPE	OMIM	No Domain	N/A	4504165,NP_000168
4070	160113102	Disease	p.Met1Arg	137290.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137290	GELATINOUS DROP-LIKE CORNEAL DYSTROPHY	OMIM	No Domain	N/A	166795236,NP_002344
4070	160113102	Disease	p.Cys119Ser	137290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137290	GELATINOUS DROP-LIKE CORNEAL DYSTROPHY	OMIM	54	cd00191	166795236,NP_002344
4070	160113102	Disease	p.Cys119Ser	137290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137290	GELATINOUS DROP-LIKE CORNEAL DYSTROPHY	OMIM	48	pfam00086	166795236,NP_002344
4070	160113102	Disease	p.Cys119Ser	137290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137290	GELATINOUS DROP-LIKE CORNEAL DYSTROPHY	OMIM	18	smart00211	166795236,NP_002344
4070	160113102	Disease	p.Leu186Pro	137290.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137290	GELATINOUS DROP-LIKE CORNEAL DYSTROPHY	OMIM	No Domain	N/A	166795236,NP_002344
2562	120773	Disease	p.Arg192His	137192.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137192	INSOMNIA	OMIM	221	pfam02931	4503867,NP_000805
2562	300797159	Disease	p.Arg192His	137192.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137192	INSOMNIA	OMIM	28	pfam02932	NULL
2562	12548788	Disease	p.Arg192His	137192.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137192	INSOMNIA	OMIM	221	pfam02931	NULL
2562	300797181	Disease	p.Arg192His	137192.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137192	INSOMNIA	OMIM	14	pfam02932	NULL
2562	120773	Disease	p.Pro11Ser	137192.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137192	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5	OMIM	No Domain	N/A	4503867,NP_000805
2562	300797159	Disease	p.Pro11Ser	137192.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137192	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5	OMIM	77	pfam02931	NULL
2562	12548788	Disease	p.Pro11Ser	137192.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137192	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5	OMIM	No Domain	N/A	NULL
2562	300797181	Disease	p.Pro11Ser	137192.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137192	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5	OMIM	63	pfam02931	NULL
2562	120773	Disease	p.Ser15Phe	137192.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137192	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5	OMIM	No Domain	N/A	4503867,NP_000805
2562	300797159	Disease	p.Ser15Phe	137192.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137192	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5	OMIM	88	pfam02931	NULL
2562	12548788	Disease	p.Ser15Phe	137192.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137192	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5	OMIM	No Domain	N/A	NULL
2562	300797181	Disease	p.Ser15Phe	137192.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137192	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5	OMIM	67	pfam02931	NULL
2562	120773	Disease	p.Gly32Arg	137192.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137192	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5	OMIM	No Domain	N/A	4503867,NP_000805
2562	300797159	Disease	p.Gly32Arg	137192.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137192	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5	OMIM	108	pfam02931	NULL
2562	12548788	Disease	p.Gly32Arg	137192.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137192	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5	OMIM	No Domain	N/A	NULL
2562	300797181	Disease	p.Gly32Arg	137192.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137192	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5	OMIM	91	pfam02931	NULL
2677	214010149	Disease	p.Leu394Arg	137167.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	OMIM	436	pfam05090	NULL
2677	84028279	Disease	p.Leu394Arg	137167.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	OMIM	376	pfam05090	21361163,NP_000812
2677	214010149	Disease	p.Trp501Ser	137167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	OMIM	No Domain	N/A	NULL
2677	84028279	Disease	p.Trp501Ser	137167.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	OMIM	487	pfam05090	21361163,NP_000812
2677	214010149	Disease	p.Arg485Pro	137167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	OMIM	No Domain	N/A	NULL
2677	84028279	Disease	p.Arg485Pro	137167.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	OMIM	471	pfam05090	21361163,NP_000812
2677	214010149	Disease	p.Phe299Ser	137167.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	OMIM	338	pfam05090	NULL
2677	84028279	Disease	p.Phe299Ser	137167.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	OMIM	388	smart00752	21361163,NP_000812
2677	84028279	Disease	p.Phe299Ser	137167.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	OMIM	244	pfam05090	21361163,NP_000812
2677	214010149	Disease	p.Gly558Arg	137167.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	OMIM	No Domain	N/A	NULL
2677	84028279	Disease	p.Gly558Arg	137167.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	OMIM	No Domain	N/A	21361163,NP_000812
2677	214010149	Disease	p.Trp493Ser	137167.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	OMIM	No Domain	N/A	NULL
2677	84028279	Disease	p.Trp493Ser	137167.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	OMIM	479	pfam05090	21361163,NP_000812
2677	214010149	Disease	p.Gly537Tyr	137167.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	OMIM	No Domain	N/A	NULL
2677	84028279	Disease	p.Gly537Tyr	137167.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	OMIM	No Domain	N/A	21361163,NP_000812
2677	214010149	Disease	p.Arg476Cys	137167.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	OMIM	No Domain	N/A	NULL
2677	84028279	Disease	p.Arg476Cys	137167.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	OMIM	462	pfam05090	21361163,NP_000812
2677	214010149	Disease	p.Arg476His	137167.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	OMIM	No Domain	N/A	NULL
2677	84028279	Disease	p.Arg476His	137167.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	OMIM	462	pfam05090	21361163,NP_000812
2677	214010149	Disease	p.Val255Met	137167.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	OMIM	401	smart00752	NULL
2677	214010149	Disease	p.Val255Met	137167.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	OMIM	257	pfam05090	NULL
2677	84028279	Disease	p.Val255Met	137167.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	OMIM	340	smart00752	21361163,NP_000812
2677	84028279	Disease	p.Val255Met	137167.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	OMIM	196	pfam05090	21361163,NP_000812
2677	214010149	Disease	p.Ser300Phe	137167.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	OMIM	339	pfam05090	NULL
2677	84028279	Disease	p.Ser300Phe	137167.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	OMIM	389	smart00752	21361163,NP_000812
2677	84028279	Disease	p.Ser300Phe	137167.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137167	PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	OMIM	245	pfam05090	21361163,NP_000812
2566	38788155	Disease	p.Lys289Met	137164.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137164	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3	OMIM	11	pfam02932	NULL
2566	116242488	Disease	p.Lys289Met	137164.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137164	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3	OMIM	11	pfam02932	38788135,NP_000807
2566	189083762	Disease	p.Lys289Met	137164.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137164	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3	OMIM	269	pfam02931	NULL
2566	38788155	Disease	p.Arg43Gln	137164.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137164	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2||FEBRILE CONVULSIONS, FAMILIAL, 8	OMIM	No Domain	N/A	NULL
2566	116242488	Disease	p.Arg43Gln	137164.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137164	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2||FEBRILE CONVULSIONS, FAMILIAL, 8	OMIM	No Domain	N/A	38788135,NP_000807
2566	189083762	Disease	p.Arg43Gln	137164.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137164	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2||FEBRILE CONVULSIONS, FAMILIAL, 8	OMIM	No Domain	N/A	NULL
2566	38788155	Disease	p.Arg139Gly	137164.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137164	FEBRILE CONVULSIONS, FAMILIAL, 8	OMIM	98	pfam02931	NULL
2566	116242488	Disease	p.Arg139Gly	137164.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137164	FEBRILE CONVULSIONS, FAMILIAL, 8	OMIM	98	pfam02931	38788135,NP_000807
2566	189083762	Disease	p.Arg139Gly	137164.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137164	FEBRILE CONVULSIONS, FAMILIAL, 8	OMIM	98	pfam02931	NULL
2563	59802571	Disease	p.Glu177Ala	137163.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137163	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO	OMIM	178	pfam02931	34734071,NP_000806
2563	59802571	Disease	p.Arg220His	137163.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137163	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO||EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10||; EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 7	OMIM	266	pfam02931	34734071,NP_000806
2554	27808653	Disease	p.Ala322Asp	137160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137160	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5	OMIM	67	pfam02932	189083724,NP_001121115|189083734,NP_001121120|38327554,NP_000797|189083728,NP_001121117|189083732,NP_001121119|189083726,NP_001121116|189083730,NP_001121118
2554	27808653	Disease	p.Ala322Asp	137160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137160	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5	OMIM	67	pfam02932	189083724,NP_001121115|189083734,NP_001121120|38327554,NP_000797|189083728,NP_001121117|189083732,NP_001121119|189083726,NP_001121116|189083730,NP_001121118
2554	27808653	Disease	p.Ala322Asp	137160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137160	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5	OMIM	67	pfam02932	189083724,NP_001121115|189083734,NP_001121120|38327554,NP_000797|189083728,NP_001121117|189083732,NP_001121119|189083726,NP_001121116|189083730,NP_001121118
2554	27808653	Disease	p.Ala322Asp	137160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137160	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5	OMIM	67	pfam02932	189083724,NP_001121115|189083734,NP_001121120|38327554,NP_000797|189083728,NP_001121117|189083732,NP_001121119|189083726,NP_001121116|189083730,NP_001121118
2554	27808653	Disease	p.Ala322Asp	137160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137160	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5	OMIM	67	pfam02932	189083724,NP_001121115|189083734,NP_001121120|38327554,NP_000797|189083728,NP_001121117|189083732,NP_001121119|189083726,NP_001121116|189083730,NP_001121118
2554	27808653	Disease	p.Ala322Asp	137160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137160	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5	OMIM	67	pfam02932	189083724,NP_001121115|189083734,NP_001121120|38327554,NP_000797|189083728,NP_001121117|189083732,NP_001121119|189083726,NP_001121116|189083730,NP_001121118
2554	27808653	Disease	p.Ala322Asp	137160.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137160	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5	OMIM	67	pfam02932	189083724,NP_001121115|189083734,NP_001121120|38327554,NP_000797|189083728,NP_001121117|189083732,NP_001121119|189083726,NP_001121116|189083730,NP_001121118
18	48429239	Disease	p.Arg220Lys	137150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137150	GABA-TRANSAMINASE DEFICIENCY	OMIM	175	COG4992	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	137150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137150	GABA-TRANSAMINASE DEFICIENCY	OMIM	204	cd00610	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	137150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137150	GABA-TRANSAMINASE DEFICIENCY	OMIM	92	cd01494	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	137150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137150	GABA-TRANSAMINASE DEFICIENCY	OMIM	169	COG0161	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	137150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137150	GABA-TRANSAMINASE DEFICIENCY	OMIM	149	pfam00202	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	137150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137150	GABA-TRANSAMINASE DEFICIENCY	OMIM	235	COG0160	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	137150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137150	GABA-TRANSAMINASE DEFICIENCY	OMIM	175	COG4992	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	137150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137150	GABA-TRANSAMINASE DEFICIENCY	OMIM	204	cd00610	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	137150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137150	GABA-TRANSAMINASE DEFICIENCY	OMIM	92	cd01494	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	137150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137150	GABA-TRANSAMINASE DEFICIENCY	OMIM	169	COG0161	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	137150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137150	GABA-TRANSAMINASE DEFICIENCY	OMIM	149	pfam00202	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	137150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137150	GABA-TRANSAMINASE DEFICIENCY	OMIM	235	COG0160	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	137150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137150	GABA-TRANSAMINASE DEFICIENCY	OMIM	175	COG4992	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	137150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137150	GABA-TRANSAMINASE DEFICIENCY	OMIM	204	cd00610	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	137150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137150	GABA-TRANSAMINASE DEFICIENCY	OMIM	92	cd01494	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	137150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137150	GABA-TRANSAMINASE DEFICIENCY	OMIM	169	COG0161	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	137150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137150	GABA-TRANSAMINASE DEFICIENCY	OMIM	149	pfam00202	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	137150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137150	GABA-TRANSAMINASE DEFICIENCY	OMIM	235	COG0160	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
2521	283135173	Disease	p.His517Gln	137070.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
2521	283135201	Disease	p.His517Gln	137070.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
2521	544357	Disease	p.His517Gln	137070.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	4826734,NP_004951
2521	283135173	Disease	p.Arg521Gly	137070.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	NULL
2521	283135201	Disease	p.Arg521Gly	137070.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	NULL
2521	544357	Disease	p.Arg521Gly	137070.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	4826734,NP_004951
2521	283135173	Disease	p.Arg518Lys	137070.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	NULL
2521	283135201	Disease	p.Arg518Lys	137070.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	NULL
2521	544357	Disease	p.Arg518Lys	137070.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	4826734,NP_004951
2521	283135173	Disease	p.Arg521Cys	137070.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	NULL
2521	283135201	Disease	p.Arg521Cys	137070.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	NULL
2521	544357	Disease	p.Arg521Cys	137070.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	4826734,NP_004951
2521	283135173	Disease	p.Arg521His	137070.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	NULL
2521	283135201	Disease	p.Arg521His	137070.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	NULL
2521	544357	Disease	p.Arg521His	137070.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	4826734,NP_004951
2521	283135173	Disease	p.Gly507Asp	137070.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	NULL
2521	283135201	Disease	p.Gly507Asp	137070.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	NULL
2521	544357	Disease	p.Gly507Asp	137070.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	4826734,NP_004951
2521	283135173	Disease	p.Arg216Cys	137070.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	NULL
2521	283135201	Disease	p.Arg216Cys	137070.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	NULL
2521	544357	Disease	p.Arg216Cys	137070.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	4826734,NP_004951
2521	283135173	Disease	p.Arg524Trp	137070.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	NULL
2521	283135201	Disease	p.Arg524Trp	137070.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	NULL
2521	544357	Disease	p.Arg524Trp	137070.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137070	AMYOTROPHIC LATERAL SCLEROSIS 6	OMIM	No Domain	N/A	4826734,NP_004951
3949	307775416	Disease	p.Ala265Thr	136850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	No Domain	N/A	NULL
3949	126073	Disease	p.Ala265Thr	136850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	68	cd00112	4504975,NP_000518
3949	126073	Disease	p.Ala265Thr	136850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	53	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Ala265Thr	136850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	59	smart00192	4504975,NP_000518
3949	307775420	Disease	p.Ala265Thr	136850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	51	pfam07645	NULL
3949	307775420	Disease	p.Ala265Thr	136850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	72	cd00054	NULL
3949	307775420	Disease	p.Ala265Thr	136850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	66	smart00179	NULL
3949	307775420	Disease	p.Ala265Thr	136850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	69	smart00181	NULL
3949	307775420	Disease	p.Ala265Thr	136850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	68	cd00053	NULL
3949	307775422	Disease	p.Ala265Thr	136850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	89	cd00054	NULL
3949	307775422	Disease	p.Ala265Thr	136850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	83	smart00179	NULL
3949	307775422	Disease	p.Ala265Thr	136850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	82	smart00181	NULL
3949	307775422	Disease	p.Ala265Thr	136850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	85	cd00053	NULL
3949	307775412	Disease	p.Ala265Thr	136850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	68	cd00112	NULL
3949	307775412	Disease	p.Ala265Thr	136850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	53	pfam00057	NULL
3949	307775412	Disease	p.Ala265Thr	136850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	59	smart00192	NULL
3949	307775414	Disease	p.Ala265Thr	136850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	53	pfam00057	NULL
3949	307775414	Disease	p.Ala265Thr	136850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	59	smart00192	NULL
3949	307775414	Disease	p.Ala265Thr	136850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	68	cd00112	NULL
3949	307775416	Disease	p.Glu319Gln	136850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	2	pfam00058	NULL
3949	307775416	Disease	p.Glu319Gln	136850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	26	smart00135	NULL
3949	126073	Disease	p.Glu319Gln	136850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	26	cd00054	4504975,NP_000518
3949	126073	Disease	p.Glu319Gln	136850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	6	smart00179	4504975,NP_000518
3949	126073	Disease	p.Glu319Gln	136850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	2	pfam00008	4504975,NP_000518
3949	126073	Disease	p.Glu319Gln	136850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	3	smart00181	4504975,NP_000518
3949	126073	Disease	p.Glu319Gln	136850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	3	cd00053	4504975,NP_000518
3949	307775420	Disease	p.Glu319Gln	136850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	2	pfam00058	NULL
3949	307775422	Disease	p.Glu319Gln	136850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	8	pfam00058	NULL
3949	307775412	Disease	p.Glu319Gln	136850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	26	cd00054	NULL
3949	307775412	Disease	p.Glu319Gln	136850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	6	smart00179	NULL
3949	307775412	Disease	p.Glu319Gln	136850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	2	pfam00008	NULL
3949	307775412	Disease	p.Glu319Gln	136850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	3	smart00181	NULL
3949	307775412	Disease	p.Glu319Gln	136850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	3	cd00053	NULL
3949	307775414	Disease	p.Glu319Gln	136850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	7	cd00054	NULL
3949	307775414	Disease	p.Glu319Gln	136850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	7	smart00179	NULL
3949	307775414	Disease	p.Glu319Gln	136850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	7	pfam07645	NULL
3949	307775414	Disease	p.Glu319Gln	136850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	4	smart00181	NULL
3949	307775414	Disease	p.Glu319Gln	136850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136850	FUMARASE DEFICIENCY	OMIM	4	cd00053	NULL
2528	1730136	Disease	p.Glu247Lys	136836.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136836	FUCOSYLTRANSFERASE-6 DEFICIENCY, PLASMA, INDONESIAN TYPE	OMIM	409	pfam00852	4503815,NP_000141|103472033,NP_001035791
2528	1730136	Disease	p.Glu247Lys	136836.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136836	FUCOSYLTRANSFERASE-6 DEFICIENCY, PLASMA, INDONESIAN TYPE	OMIM	409	pfam00852	4503815,NP_000141|103472033,NP_001035791
2488	120552	Disease	p.Cys51Gly	136530.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136530	FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED	OMIM	37	pfam00007	66528995,NP_001018090|4503791,NP_000501
2488	120552	Disease	p.Cys51Gly	136530.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136530	FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED	OMIM	31	cd00069	66528995,NP_001018090|4503791,NP_000501
2488	120552	Disease	p.Cys51Gly	136530.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136530	FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED	OMIM	35	smart00068	66528995,NP_001018090|4503791,NP_000501
2488	120552	Disease	p.Cys51Gly	136530.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136530	FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED	OMIM	37	pfam00007	66528995,NP_001018090|4503791,NP_000501
2488	120552	Disease	p.Cys51Gly	136530.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136530	FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED	OMIM	31	cd00069	66528995,NP_001018090|4503791,NP_000501
2488	120552	Disease	p.Cys51Gly	136530.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136530	FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED	OMIM	35	smart00068	66528995,NP_001018090|4503791,NP_000501
2492	291575177	Disease	p.Ala189Val	136435.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN DYSGENESIS 1	OMIM	No Domain	N/A	NULL
2492	31657138	Disease	p.Ala189Val	136435.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN DYSGENESIS 1	OMIM	No Domain	N/A	NULL
79742	193804856	Disease	p.Ala189Val	136435.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Ala189Val	136435.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
2492	291575177	Disease	p.Ile160Thr	136435.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN DYSGENESIS 1	OMIM	No Domain	N/A	NULL
2492	31657138	Disease	p.Ile160Thr	136435.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN DYSGENESIS 1	OMIM	No Domain	N/A	NULL
2492	291575177	Disease	p.Arg573Cys	136435.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN DYSGENESIS 1	OMIM	393	pfam00001	NULL
2492	31657138	Disease	p.Arg573Cys	136435.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN DYSGENESIS 1	OMIM	367	pfam00001	NULL
2492	291575177	Disease	p.Thr307Ala	136435.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN RESPONSE TO FSH STIMULATION	OMIM	66	pfam12369	NULL
2492	31657138	Disease	p.Thr307Ala	136435.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN RESPONSE TO FSH STIMULATION	OMIM	28	pfam12369	NULL
2492	291575177	Disease	p.Asn680Ser	136435.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN RESPONSE TO FSH STIMULATION||OVARIAN HYPERSTIMULATION SYNDROME, MODIFIER OF SEVERITY OF	OMIM	No Domain	N/A	NULL
2492	31657138	Disease	p.Asn680Ser	136435.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN RESPONSE TO FSH STIMULATION||OVARIAN HYPERSTIMULATION SYNDROME, MODIFIER OF SEVERITY OF	OMIM	No Domain	N/A	NULL
2492	291575177	Disease	p.Ala418Thr	136435.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN DYSGENESIS 1	OMIM	69	pfam00001	NULL
2492	31657138	Disease	p.Ala418Thr	136435.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN DYSGENESIS 1	OMIM	38	pfam00001	NULL
2492	291575177	Disease	p.Thr449Ile	136435.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN HYPERSTIMULATION SYNDROME	OMIM	100	pfam00001	NULL
2492	31657138	Disease	p.Thr449Ile	136435.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN HYPERSTIMULATION SYNDROME	OMIM	74	pfam00001	NULL
2492	291575177	Disease	p.Asp567Asn	136435.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN HYPERSTIMULATION SYNDROME	OMIM	387	pfam00001	NULL
2492	31657138	Disease	p.Asp567Asn	136435.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN HYPERSTIMULATION SYNDROME	OMIM	361	pfam00001	NULL
2492	291575177	Disease	p.Pro519Thr	136435.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN DYSGENESIS 1	OMIM	197	pfam00001	NULL
2492	31657138	Disease	p.Pro519Thr	136435.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN DYSGENESIS 1	OMIM	161	pfam00001	NULL
2492	291575177	Disease	p.Thr449Ala	136435.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN HYPERSTIMULATION SYNDROME	OMIM	100	pfam00001	NULL
2492	31657138	Disease	p.Thr449Ala	136435.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN HYPERSTIMULATION SYNDROME	OMIM	74	pfam00001	NULL
2492	291575177	Disease	p.Ile545Thr	136435.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN HYPERSTIMULATION SYNDROME	OMIM	365	pfam00001	NULL
2492	31657138	Disease	p.Ile545Thr	136435.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN HYPERSTIMULATION SYNDROME	OMIM	197	pfam00001	NULL
2492	291575177	Disease	p.Ser128Tyr	136435.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN HYPERSTIMULATION SYNDROME	OMIM	No Domain	N/A	NULL
2492	31657138	Disease	p.Ser128Tyr	136435.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435	OVARIAN HYPERSTIMULATION SYNDROME	OMIM	No Domain	N/A	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	253	cd05098	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	227	cd06628	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	212	cd08223	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	234	cd06618	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	264	cd05053	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	247	cd05099	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	248	cd05100	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	353	cd05055	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	361	cd06606	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	265	cd06627	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	268	cd07841	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd06631	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	264	cd07832	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	258	cd06626	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd06632	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	240	cd05045	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	218	cd08530	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	308	cd05122	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	356	cd05107	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	354	cd05105	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	217	cd06617	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	264	cd06608	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	240	cd06612	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05059	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	216	cd06613	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	212	cd05114	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	212	cd05112	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	476	cd05581	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	221	cd06625	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	283	cd06605	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	275	cd05580	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	229	cd05089	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	286	cd07833	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	279	cd06623	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	994	COG0515	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	284	cd08217	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd08221	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	242	cd05118	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd05047	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05116	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	216	cd05060	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	226	cd05087	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	282	cd08215	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	207	cd05084	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	206	cd05085	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	221	cd05086	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	230	cd05044	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05041	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	225	cd05040	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	217	cd05570	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	220	cd05058	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	245	cd05037	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	463	cd00192	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05582	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	220	cd08224	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	258	cd05043	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	238	cd07845	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	223	cd06917	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	255	cd06609	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	276	cd05057	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	294	cd05103	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	343	cd05054	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	292	cd05102	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	218	cd08229	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	227	cd06659	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05605	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	224	cd07846	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd05577	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd05110	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	234	cd05088	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd06644	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	217	cd06651	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd05063	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	220	cd05064	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	245	cd05049	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	299	cd05046	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	304	cd05051	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	246	cd05050	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	285	cd05096	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	259	cd05095	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	249	cd05097	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	242	cd05094	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	233	cd05093	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	238	cd06611	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	235	cd05092	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd05090	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd05091	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	240	cd05048	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	261	cd06614	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	219	cd05077	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	338	cd05104	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	645	smart00219	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	432	pfam07714	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	381	pfam00069	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	240	cd05075	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	226	cd05074	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	236	cd05035	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	212	cd05589	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	326	cd07830	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	306	cd07829	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	944	smart00221	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	smart00750	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05071	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	233	cd05061	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	250	cd05056	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	216	cd05052	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	232	cd05062	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	277	cd05032	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	235	cd05036	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	240	cd05067	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05070	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05069	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	210	cd05082	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	249	cd05148	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	208	cd05083	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	225	cd05034	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	217	cd05039	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	220	cd05068	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd05073	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd05072	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	306	cd07866	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	225	cd05578	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	223	cd06648	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	223	cd06629	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	220	cd06630	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	236	cd06622	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	210	cd08219	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	250	cd05101	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	218	cd05078	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	229	cd06616	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	326	cd07840	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	276	cd07851	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05115	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	814	cd00180	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	225	cd05042	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	831	cd05123	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05608	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	225	cd05080	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	220	cd05066	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd05079	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	275	cd05038	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	256	cd05033	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd05081	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd05065	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd05109	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd05111	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd05108	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	213	cd05113	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	336	cd05106	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	217	cd08529	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	235	cd06610	NULL
2324	104294888	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	880	smart00220	NULL
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	253	cd05098	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	227	cd06628	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	212	cd08223	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	234	cd06618	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	264	cd05053	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	247	cd05099	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	248	cd05100	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	353	cd05055	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	361	cd06606	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	265	cd06627	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	268	cd07841	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd06631	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	264	cd07832	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	258	cd06626	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd06632	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	240	cd05045	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	218	cd08530	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	308	cd05122	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	356	cd05107	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	354	cd05105	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	217	cd06617	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	264	cd06608	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	240	cd06612	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05059	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	216	cd06613	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	212	cd05114	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	212	cd05112	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	476	cd05581	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	221	cd06625	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	283	cd06605	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	275	cd05580	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	229	cd05089	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	994	COG0515	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	286	cd07833	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	279	cd06623	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	284	cd08217	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd08221	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	242	cd05118	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd05047	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05116	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	216	cd05060	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	226	cd05087	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	282	cd08215	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	207	cd05084	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	206	cd05085	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	221	cd05086	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	230	cd05044	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05041	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	225	cd05040	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	217	cd05570	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	220	cd05058	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	245	cd05037	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	463	cd00192	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05582	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	220	cd08224	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	258	cd05043	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	238	cd07845	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	223	cd06917	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	255	cd06609	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	276	cd05057	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	294	cd05103	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	343	cd05054	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	292	cd05102	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	218	cd08229	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	227	cd06659	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05605	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	224	cd07846	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd05577	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd05110	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	234	cd05088	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd06644	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	217	cd06651	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd05063	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	220	cd05064	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	245	cd05049	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	299	cd05046	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	304	cd05051	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	246	cd05050	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	285	cd05096	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	259	cd05095	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	249	cd05097	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	242	cd05094	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	233	cd05093	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	238	cd06611	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	235	cd05092	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd05090	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd05091	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	240	cd05048	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	261	cd06614	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	219	cd05077	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	338	cd05104	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	645	smart00219	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	432	pfam07714	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	381	pfam00069	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	240	cd05075	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	226	cd05074	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	236	cd05035	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	212	cd05589	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	326	cd07830	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	306	cd07829	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	944	smart00221	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	smart00750	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05071	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	233	cd05061	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	250	cd05056	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	216	cd05052	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	232	cd05062	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	277	cd05032	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	235	cd05036	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	240	cd05067	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05070	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05069	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	210	cd05082	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	249	cd05148	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	208	cd05083	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	225	cd05034	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	217	cd05039	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	220	cd05068	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd05073	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd05072	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	306	cd07866	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	225	cd05578	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	223	cd06648	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	223	cd06629	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	220	cd06630	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	236	cd06622	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	210	cd08219	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	250	cd05101	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	218	cd05078	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	229	cd06616	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	326	cd07840	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	276	cd07851	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05115	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	814	cd00180	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	225	cd05042	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	831	cd05123	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05608	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	225	cd05080	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	220	cd05066	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd05079	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	275	cd05038	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	256	cd05033	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd05081	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd05065	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd05108	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd05109	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd05111	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	213	cd05113	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	336	cd05106	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	217	cd08529	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	235	cd06610	103472027,NP_002011
2324	1718189	Disease	p.Pro1126Leu	136352.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	880	smart00220	103472027,NP_002011
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	32	cd05098	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	26	cd05053	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	26	cd05099	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	26	cd05100	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	51	cd05055	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	21	cd06606	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	15	cd06627	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	15	cd07841	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd06631	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd07832	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	15	cd06626	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd06632	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd05045	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd08530	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	21	cd05122	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	51	cd05107	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	51	cd05105	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd06608	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd06612	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05059	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd06613	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05114	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05112	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	22	cd05581	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd06625	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	15	cd06605	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	15	cd05580	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05089	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	15	cd07833	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd06623	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	57	COG0515	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd08217	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd08221	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd05118	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05047	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05116	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05060	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05087	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd08215	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05084	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05085	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05086	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05044	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05041	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05040	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05570	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05058	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05037	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd00192	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	10	cd05582	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd08224	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	21	cd05043	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	32	cd05057	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	21	cd05103	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	21	cd05054	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	21	cd05102	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd07846	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	21	cd05088	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	26	cd06644	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05063	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05064	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05049	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05046	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	27	cd05051	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05050	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05096	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05095	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05097	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05094	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05093	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd06611	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05092	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05090	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05091	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05048	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	34	cd06614	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	49	cd05104	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	smart00219	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	pfam07714	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	pfam00069	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd05075	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd05074	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd05035	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd05589	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd07830	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd07829	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	smart00221	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05071	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05061	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05056	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05052	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05062	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	22	cd05032	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05036	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05067	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05070	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05069	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05082	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05148	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05083	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05034	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05039	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05068	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05073	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05072	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	15	cd06629	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd06630	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	29	cd05101	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	29	cd07851	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05115	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	10	cd00180	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05042	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05123	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05080	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05066	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05079	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05038	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05033	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05081	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05065	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	21	cd05109	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	21	cd05111	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	21	cd05108	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05113	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	52	cd05106	NULL
2324	104294888	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	3	smart00220	NULL
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	32	cd05098	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	26	cd05053	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	26	cd05099	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	26	cd05100	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	51	cd05055	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	21	cd06606	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	15	cd06627	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	15	cd07841	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd06631	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd07832	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	15	cd06626	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd06632	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd05045	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd08530	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	21	cd05122	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	51	cd05107	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	51	cd05105	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd06608	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd06612	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05059	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd06613	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05114	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05112	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	22	cd05581	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd06625	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	15	cd06605	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	15	cd05580	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05089	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	57	COG0515	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	15	cd07833	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd06623	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd08217	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd08221	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd05118	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05047	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05116	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05060	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05087	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd08215	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05084	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05085	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05086	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05044	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05041	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05040	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05570	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05058	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05037	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd00192	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	10	cd05582	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd08224	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	21	cd05043	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	32	cd05057	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	21	cd05103	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	21	cd05054	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	21	cd05102	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd07846	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	21	cd05088	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	26	cd06644	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05063	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05064	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05049	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05046	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	27	cd05051	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05050	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05096	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05095	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05097	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05094	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05093	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd06611	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05092	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05090	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05091	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05048	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	34	cd06614	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	49	cd05104	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	smart00219	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	pfam07714	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	pfam00069	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd05075	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd05074	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd05035	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd05589	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd07830	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd07829	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	smart00221	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05071	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05061	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05056	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05052	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05062	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	22	cd05032	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05036	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05067	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05070	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05069	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05082	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05148	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05083	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05034	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05039	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05068	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05073	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05072	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	15	cd06629	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd06630	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	29	cd05101	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	29	cd07851	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05115	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	10	cd00180	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	9	cd05042	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05123	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05080	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05066	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05079	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05038	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05033	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05081	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05065	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	21	cd05108	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	21	cd05109	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	21	cd05111	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05113	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	52	cd05106	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	136352.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	3	smart00220	103472027,NP_002011
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	169	cd05098	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	137	cd06628	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd08223	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	148	cd06618	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	179	cd05053	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	163	cd05099	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	163	cd05100	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	268	cd05055	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	210	cd06606	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	136	cd06627	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	146	cd07841	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	133	cd06631	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	144	cd07832	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd06626	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	148	cd06632	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	156	cd05045	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd08530	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	163	cd05122	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	271	cd05107	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	269	cd05105	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd06617	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	172	cd06608	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	144	cd06612	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd05059	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd06613	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	129	cd05114	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	129	cd05112	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	245	cd05581	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd06625	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	147	cd06605	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	183	cd05580	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	148	cd05089	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	151	cd07833	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	177	cd06623	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	586	COG0515	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	161	cd08217	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd08221	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd05118	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	141	cd05047	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	124	cd05116	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd05060	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05087	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	172	cd08215	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	123	cd05084	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	123	cd05085	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	129	cd05086	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	139	cd05044	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	125	cd05041	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	133	cd05040	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	127	cd05570	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05058	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	148	cd05037	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	338	cd00192	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	127	cd05582	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	136	cd08224	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	171	cd05043	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	150	cd07845	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	139	cd06917	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	152	cd06609	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	191	cd05057	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05103	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	257	cd05054	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	207	cd05102	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd08229	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	146	cd06659	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd05605	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	130	cd07846	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	129	cd05577	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd05110	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	153	cd05088	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	139	cd06644	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd06651	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	137	cd05063	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	136	cd05064	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	156	cd05049	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd05046	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	190	cd05051	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	162	cd05050	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	185	cd05096	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	170	cd05095	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	160	cd05097	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	152	cd05094	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	149	cd05093	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd06611	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	151	cd05092	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	153	cd05090	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	153	cd05091	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	156	cd05048	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	181	cd06614	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05077	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	253	cd05104	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	426	smart00219	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	285	pfam07714	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	220	pfam00069	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	156	cd05075	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	142	cd05074	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	152	cd05035	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	130	cd05589	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	181	cd07830	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	169	cd07829	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	541	smart00221	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	58	smart00750	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd05071	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	149	cd05061	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	165	cd05056	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	133	cd05052	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	148	cd05062	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	193	cd05032	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	147	cd05036	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd05067	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd05070	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd05069	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd05082	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05148	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	129	cd05083	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd05034	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd05039	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05068	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd05073	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd05072	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	160	cd07866	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	130	cd05578	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	145	cd06648	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	139	cd06629	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd06630	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	144	cd06622	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	129	cd08219	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	166	cd05101	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd05078	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	144	cd06616	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	178	cd07840	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	163	cd07851	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	124	cd05115	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	370	cd00180	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd05042	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	645	cd05123	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	126	cd05608	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	136	cd05080	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd05066	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd05079	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	157	cd05038	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	167	cd05033	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	137	cd05081	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd05065	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd05109	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd05111	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd05108	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	130	cd05113	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	251	cd05106	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd08529	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	141	cd06610	NULL
2324	104294888	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	431	smart00220	NULL
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	169	cd05098	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	137	cd06628	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd08223	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	148	cd06618	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	179	cd05053	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	163	cd05099	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	163	cd05100	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	268	cd05055	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	210	cd06606	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	136	cd06627	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	146	cd07841	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	133	cd06631	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	144	cd07832	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd06626	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	148	cd06632	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	156	cd05045	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd08530	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	163	cd05122	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	271	cd05107	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	269	cd05105	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd06617	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	172	cd06608	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	144	cd06612	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd05059	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd06613	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	129	cd05114	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	129	cd05112	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	245	cd05581	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd06625	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	147	cd06605	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	183	cd05580	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	148	cd05089	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	586	COG0515	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	151	cd07833	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	177	cd06623	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	161	cd08217	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd08221	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd05118	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	141	cd05047	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	124	cd05116	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd05060	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05087	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	172	cd08215	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	123	cd05084	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	123	cd05085	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	129	cd05086	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	139	cd05044	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	125	cd05041	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	133	cd05040	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	127	cd05570	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05058	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	148	cd05037	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	338	cd00192	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	127	cd05582	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	136	cd08224	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	171	cd05043	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	150	cd07845	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	139	cd06917	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	152	cd06609	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	191	cd05057	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05103	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	257	cd05054	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	207	cd05102	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd08229	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	146	cd06659	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd05605	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	130	cd07846	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	129	cd05577	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd05110	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	153	cd05088	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	139	cd06644	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd06651	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	137	cd05063	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	136	cd05064	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	156	cd05049	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd05046	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	190	cd05051	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	162	cd05050	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	185	cd05096	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	170	cd05095	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	160	cd05097	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	152	cd05094	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	149	cd05093	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd06611	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	151	cd05092	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	153	cd05090	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	153	cd05091	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	156	cd05048	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	181	cd06614	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05077	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	253	cd05104	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	426	smart00219	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	285	pfam07714	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	220	pfam00069	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	156	cd05075	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	142	cd05074	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	152	cd05035	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	130	cd05589	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	181	cd07830	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	169	cd07829	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	541	smart00221	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	58	smart00750	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd05071	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	149	cd05061	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	165	cd05056	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	133	cd05052	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	148	cd05062	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	193	cd05032	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	147	cd05036	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd05067	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd05070	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd05069	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd05082	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05148	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	129	cd05083	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd05034	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd05039	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05068	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd05073	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd05072	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	160	cd07866	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	130	cd05578	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	145	cd06648	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	139	cd06629	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd06630	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	144	cd06622	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	129	cd08219	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	166	cd05101	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	131	cd05078	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	144	cd06616	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	178	cd07840	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	163	cd07851	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	124	cd05115	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	370	cd00180	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd05042	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	645	cd05123	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	126	cd05608	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	136	cd05080	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd05066	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd05079	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	157	cd05038	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	167	cd05033	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	137	cd05081	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd05065	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd05108	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd05109	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd05111	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	130	cd05113	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	251	cd05106	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd08529	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	141	cd06610	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	136352.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	431	smart00220	103472027,NP_002011
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	172	cd05098	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	140	cd06628	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd08223	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	151	cd06618	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	182	cd05053	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	166	cd05099	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	166	cd05100	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	271	cd05055	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	213	cd06606	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	139	cd06627	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	149	cd07841	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	136	cd06631	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	147	cd07832	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd06626	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	151	cd06632	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	159	cd05045	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd08530	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	166	cd05122	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	274	cd05107	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	272	cd05105	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	137	cd06617	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	175	cd06608	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	147	cd06612	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05059	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd06613	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd05114	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd05112	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	248	cd05581	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd06625	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	150	cd06605	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	186	cd05580	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	151	cd05089	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	154	cd07833	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	180	cd06623	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	589	COG0515	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	164	cd08217	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd08221	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	141	cd05118	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	144	cd05047	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	127	cd05116	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05060	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	137	cd05087	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	175	cd08215	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	126	cd05084	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	126	cd05085	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd05086	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	142	cd05044	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	128	cd05041	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	136	cd05040	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	130	cd05570	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	137	cd05058	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	151	cd05037	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	341	cd00192	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	130	cd05582	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	139	cd08224	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	174	cd05043	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	153	cd07845	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	142	cd06917	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	155	cd06609	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	194	cd05057	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	212	cd05103	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	260	cd05054	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	210	cd05102	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd08229	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	149	cd06659	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05605	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	133	cd07846	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd05577	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	141	cd05110	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	156	cd05088	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	142	cd06644	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd06651	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	140	cd05063	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	139	cd05064	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	159	cd05049	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	218	cd05046	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	193	cd05051	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	165	cd05050	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	188	cd05096	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	173	cd05095	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	163	cd05097	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	155	cd05094	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	152	cd05093	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	137	cd06611	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	154	cd05092	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	156	cd05090	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	156	cd05091	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	159	cd05048	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	184	cd06614	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	137	cd05077	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	256	cd05104	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	429	smart00219	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	288	pfam07714	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	223	pfam00069	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	159	cd05075	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	145	cd05074	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	155	cd05035	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	133	cd05589	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	184	cd07830	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	172	cd07829	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	544	smart00221	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	61	smart00750	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05071	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	152	cd05061	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	168	cd05056	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	136	cd05052	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	151	cd05062	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	196	cd05032	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	150	cd05036	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05067	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05070	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05069	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05082	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	137	cd05148	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd05083	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd05034	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd05039	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	137	cd05068	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd05073	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd05072	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	163	cd07866	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	133	cd05578	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	148	cd06648	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	142	cd06629	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd06630	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	147	cd06622	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd08219	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	169	cd05101	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05078	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	147	cd06616	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	181	cd07840	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	166	cd07851	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	127	cd05115	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	373	cd00180	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd05042	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	648	cd05123	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	129	cd05608	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	139	cd05080	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd05066	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	141	cd05079	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	160	cd05038	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	170	cd05033	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	140	cd05081	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd05065	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	141	cd05109	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	141	cd05111	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	141	cd05108	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	133	cd05113	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	254	cd05106	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd08529	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	144	cd06610	NULL
2324	104294888	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	435	smart00220	NULL
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	172	cd05098	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	140	cd06628	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd08223	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	151	cd06618	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	182	cd05053	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	166	cd05099	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	166	cd05100	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	271	cd05055	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	213	cd06606	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	139	cd06627	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	149	cd07841	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	136	cd06631	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	147	cd07832	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd06626	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	151	cd06632	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	159	cd05045	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd08530	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	166	cd05122	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	274	cd05107	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	272	cd05105	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	137	cd06617	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	175	cd06608	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	147	cd06612	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05059	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd06613	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd05114	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd05112	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	248	cd05581	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd06625	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	150	cd06605	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	186	cd05580	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	151	cd05089	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	589	COG0515	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	154	cd07833	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	180	cd06623	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	164	cd08217	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd08221	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	141	cd05118	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	144	cd05047	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	127	cd05116	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05060	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	137	cd05087	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	175	cd08215	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	126	cd05084	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	126	cd05085	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd05086	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	142	cd05044	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	128	cd05041	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	136	cd05040	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	130	cd05570	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	137	cd05058	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	151	cd05037	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	341	cd00192	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	130	cd05582	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	139	cd08224	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	174	cd05043	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	153	cd07845	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	142	cd06917	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	155	cd06609	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	194	cd05057	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	212	cd05103	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	260	cd05054	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	210	cd05102	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd08229	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	149	cd06659	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05605	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	133	cd07846	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd05577	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	141	cd05110	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	156	cd05088	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	142	cd06644	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd06651	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	140	cd05063	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	139	cd05064	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	159	cd05049	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	218	cd05046	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	193	cd05051	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	165	cd05050	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	188	cd05096	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	173	cd05095	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	163	cd05097	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	155	cd05094	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	152	cd05093	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	137	cd06611	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	154	cd05092	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	156	cd05090	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	156	cd05091	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	159	cd05048	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	184	cd06614	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	137	cd05077	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	256	cd05104	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	429	smart00219	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	288	pfam07714	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	223	pfam00069	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	159	cd05075	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	145	cd05074	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	155	cd05035	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	133	cd05589	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	184	cd07830	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	172	cd07829	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	544	smart00221	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	61	smart00750	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05071	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	152	cd05061	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	168	cd05056	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	136	cd05052	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	151	cd05062	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	196	cd05032	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	150	cd05036	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05067	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05070	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05069	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05082	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	137	cd05148	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd05083	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd05034	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd05039	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	137	cd05068	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd05073	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd05072	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	163	cd07866	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	133	cd05578	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	148	cd06648	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	142	cd06629	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd06630	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	147	cd06622	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	132	cd08219	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	169	cd05101	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	134	cd05078	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	147	cd06616	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	181	cd07840	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	166	cd07851	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	127	cd05115	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	373	cd00180	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	135	cd05042	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	648	cd05123	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	129	cd05608	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	139	cd05080	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd05066	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	141	cd05079	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	160	cd05038	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	170	cd05033	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	140	cd05081	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd05065	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	141	cd05108	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	141	cd05109	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	141	cd05111	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	133	cd05113	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	254	cd05106	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	138	cd08529	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	144	cd06610	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	136352.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	435	smart00220	103472027,NP_002011
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	242	cd05098	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd06628	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201_G	cd08223	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd06618	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	253	cd05053	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	236	cd05099	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd05100	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	341	cd05055	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	346	cd06606	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	244	cd06627	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd07841	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd06631	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	245	cd07832	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	246	cd06626	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	225	cd06632	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	229	cd05045	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	207	cd08530	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	244	cd05122	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	344	cd05107	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	342	cd05105	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	207	cd06617	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	252	cd06608	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	219	cd06612	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05059	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	208	cd06613	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05114	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05112	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	450	cd05581	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd06625	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	223	cd06605	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	262	cd05580	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	218	cd05089	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	259	cd07833	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	258	cd06623	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	933	COG0515	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	272	cd08217	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	208	cd08221	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	212	cd05118	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05047	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	198	cd05116	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	205	cd05060	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05087	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	277	cd08215	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	196	cd05084	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	195	cd05085	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05086	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	219	cd05044	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	198	cd05041	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	213	cd05040	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	197	cd05570	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05058	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	231	cd05037	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	441	cd00192	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	197	cd05582	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	206	cd08224	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	247	cd05043	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	223	cd07845	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	213	cd06917	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	230	cd06609	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	265	cd05057	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	282	cd05103	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	331	cd05054	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	280	cd05102	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	205	cd08229	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	216	cd06659	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	200	cd05605	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	202	cd07846	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	200	cd05577	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05110	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	223	cd05088	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	213_G	cd06644	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	205_G	cd06651	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05063	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05064	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	234	cd05049	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	288	cd05046	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	273	cd05051	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	235	cd05050	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	270	cd05096	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	244	cd05095	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	234	cd05097	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	232	cd05094	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd05093	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	226	cd06611	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	224	cd05092	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	226	cd05090	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	226	cd05091	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	229	cd05048	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	253	cd06614	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05077	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	326	cd05104	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	595	smart00219	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	398	pfam07714	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	362	pfam00069	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	229	cd05075	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd05074	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	225	cd05035	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	200	cd05589	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	281	cd07830	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	255	cd07829	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	866	smart00221	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	191	smart00750	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05071	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd05061	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	239	cd05056	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	205	cd05052	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	221	cd05062	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	266	cd05032	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	224	cd05036	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05067	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05070	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05069	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	199	cd05082	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	206	cd05148	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	197	cd05083	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05034	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	206	cd05039	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05068	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	204	cd05073	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	204	cd05072	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	279	cd07866	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	210	cd05578	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd06648	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd06629	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	208	cd06630	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	224	cd06622	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	199	cd08219	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	239	cd05101	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	207	cd05078	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	217	cd06616	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	299	cd07840	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	255	cd07851	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	198	cd05115	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	685	cd00180	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	213	cd05042	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	811	cd05123	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	198	cd05608	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	210	cd05080	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05066	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	225	cd05079	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	252	cd05038	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	245	cd05033	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05081	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05065	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05109	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05111	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05108	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	202	cd05113	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	324	cd05106	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	206	cd08529	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	223	cd06610	NULL
2324	104294888	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	794	smart00220	NULL
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	242	cd05098	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd06628	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201_G	cd08223	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd06618	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	253	cd05053	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	236	cd05099	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd05100	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	341	cd05055	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	346	cd06606	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	244	cd06627	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd07841	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd06631	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	245	cd07832	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	246	cd06626	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	225	cd06632	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	229	cd05045	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	207	cd08530	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	244	cd05122	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	344	cd05107	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	342	cd05105	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	207	cd06617	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	252	cd06608	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	219	cd06612	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05059	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	208	cd06613	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05114	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05112	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	450	cd05581	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd06625	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	223	cd06605	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	262	cd05580	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	218	cd05089	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	933	COG0515	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	259	cd07833	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	258	cd06623	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	272	cd08217	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	208	cd08221	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	212	cd05118	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05047	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	198	cd05116	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	205	cd05060	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05087	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	277	cd08215	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	196	cd05084	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	195	cd05085	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05086	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	219	cd05044	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	198	cd05041	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	213	cd05040	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	197	cd05570	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05058	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	231	cd05037	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	441	cd00192	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	197	cd05582	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	206	cd08224	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	247	cd05043	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	223	cd07845	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	213	cd06917	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	230	cd06609	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	265	cd05057	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	282	cd05103	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	331	cd05054	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	280	cd05102	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	205	cd08229	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	216	cd06659	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	200	cd05605	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	202	cd07846	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	200	cd05577	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05110	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	223	cd05088	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	213_G	cd06644	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	205_G	cd06651	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05063	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05064	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	234	cd05049	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	288	cd05046	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	273	cd05051	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	235	cd05050	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	270	cd05096	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	244	cd05095	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	234	cd05097	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	232	cd05094	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd05093	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	226	cd06611	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	224	cd05092	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	226	cd05090	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	226	cd05091	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	229	cd05048	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	253	cd06614	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05077	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	326	cd05104	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	595	smart00219	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	398	pfam07714	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	362	pfam00069	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	229	cd05075	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd05074	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	225	cd05035	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	200	cd05589	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	281	cd07830	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	255	cd07829	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	866	smart00221	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	191	smart00750	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05071	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	222	cd05061	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	239	cd05056	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	205	cd05052	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	221	cd05062	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	266	cd05032	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	224	cd05036	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05067	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05070	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05069	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	199	cd05082	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	206	cd05148	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	197	cd05083	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05034	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	206	cd05039	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05068	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	204	cd05073	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	204	cd05072	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	279	cd07866	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	210	cd05578	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd06648	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd06629	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	208	cd06630	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	224	cd06622	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	199	cd08219	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	239	cd05101	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	207	cd05078	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	217	cd06616	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	299	cd07840	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	255	cd07851	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	198	cd05115	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	685	cd00180	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	213	cd05042	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	811	cd05123	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	198	cd05608	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	210	cd05080	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd05066	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	225	cd05079	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	252	cd05038	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	245	cd05033	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05081	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05065	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05108	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05109	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05111	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	202	cd05113	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	324	cd05106	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	206	cd08529	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	223	cd06610	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	136352.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	794	smart00220	103472027,NP_002011
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	163	cd05098	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	131	cd06628	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd08223	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	142	cd06618	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	173	cd05053	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	157	cd05099	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	157	cd05100	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	262	cd05055	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	204	cd06606	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	130	cd06627	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	140	cd07841	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	127	cd06631	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	138	cd07832	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd06626	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	142	cd06632	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	150	cd05045	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	129	cd08530	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	157	cd05122	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	265	cd05107	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	263	cd05105	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	128	cd06617	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	166	cd06608	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	138	cd06612	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd05059	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	126	cd06613	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	123	cd05114	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	123	cd05112	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	239	cd05581	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	129	cd06625	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	141	cd06605	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	177	cd05580	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	142	cd05089	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	145	cd07833	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	171	cd06623	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	555	COG0515	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	155	cd08217	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd08221	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	132	cd05118	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	135	cd05047	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	118	cd05116	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd05060	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	128	cd05087	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	166	cd08215	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	117	cd05084	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	117	cd05085	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	123	cd05086	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	133	cd05044	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	119	cd05041	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	127	cd05040	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	121	cd05570	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	128	cd05058	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	142	cd05037	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	332	cd00192	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	121	cd05582	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	130	cd08224	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	165	cd05043	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	144	cd07845	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	133	cd06917	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	146	cd06609	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	185	cd05057	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	203	cd05103	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	251	cd05054	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	201	cd05102	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	129	cd08229	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	140	cd06659	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd05605	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	124	cd07846	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	123	cd05577	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	132	cd05110	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	147	cd05088	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	133	cd06644	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	129	cd06651	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	131	cd05063	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	130	cd05064	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	150	cd05049	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	209	cd05046	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	184	cd05051	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	156	cd05050	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	179	cd05096	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	164	cd05095	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	154	cd05097	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	146	cd05094	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	143	cd05093	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	128	cd06611	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	145	cd05092	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	147	cd05090	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	147	cd05091	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	150	cd05048	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	175	cd06614	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	128	cd05077	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	247	cd05104	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	420	smart00219	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	279	pfam07714	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	214	pfam00069	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	150	cd05075	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	136	cd05074	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	146	cd05035	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	124	cd05589	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	175	cd07830	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	163	cd07829	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	535	smart00221	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	46	smart00750	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd05071	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	143	cd05061	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	159	cd05056	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	127	cd05052	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	142	cd05062	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	187	cd05032	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	141	cd05036	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd05067	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd05070	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd05069	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd05082	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	128	cd05148	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	123	cd05083	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	126	cd05034	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	129	cd05039	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	128	cd05068	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	126	cd05073	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	126	cd05072	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	154	cd07866	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	124	cd05578	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	139	cd06648	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	133	cd06629	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	126	cd06630	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	138	cd06622	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	123	cd08219	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	160	cd05101	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd05078	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	138	cd06616	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	172	cd07840	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	157	cd07851	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	118	cd05115	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	364	cd00180	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	126	cd05042	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	639	cd05123	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	120	cd05608	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	130	cd05080	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	129	cd05066	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	132	cd05079	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	151	cd05038	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	161	cd05033	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	131	cd05081	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	129	cd05065	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	132	cd05109	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	132	cd05111	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	132	cd05108	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	124	cd05113	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	245	cd05106	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	129	cd08529	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	135	cd06610	NULL
2324	104294888	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	425	smart00220	NULL
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	163	cd05098	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	131	cd06628	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd08223	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	142	cd06618	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	173	cd05053	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	157	cd05099	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	157	cd05100	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	262	cd05055	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	204	cd06606	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	130	cd06627	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	140	cd07841	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	127	cd06631	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	138	cd07832	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd06626	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	142	cd06632	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	150	cd05045	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	129	cd08530	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	157	cd05122	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	265	cd05107	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	263	cd05105	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	128	cd06617	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	166	cd06608	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	138	cd06612	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd05059	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	126	cd06613	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	123	cd05114	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	123	cd05112	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	239	cd05581	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	129	cd06625	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	141	cd06605	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	177	cd05580	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	142	cd05089	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	555	COG0515	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	145	cd07833	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	171	cd06623	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	155	cd08217	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd08221	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	132	cd05118	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	135	cd05047	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	118	cd05116	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd05060	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	128	cd05087	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	166	cd08215	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	117	cd05084	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	117	cd05085	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	123	cd05086	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	133	cd05044	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	119	cd05041	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	127	cd05040	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	121	cd05570	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	128	cd05058	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	142	cd05037	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	332	cd00192	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	121	cd05582	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	130	cd08224	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	165	cd05043	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	144	cd07845	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	133	cd06917	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	146	cd06609	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	185	cd05057	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	203	cd05103	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	251	cd05054	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	201	cd05102	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	129	cd08229	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	140	cd06659	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd05605	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	124	cd07846	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	123	cd05577	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	132	cd05110	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	147	cd05088	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	133	cd06644	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	129	cd06651	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	131	cd05063	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	130	cd05064	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	150	cd05049	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	209	cd05046	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	184	cd05051	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	156	cd05050	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	179	cd05096	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	164	cd05095	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	154	cd05097	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	146	cd05094	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	143	cd05093	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	128	cd06611	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	145	cd05092	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	147	cd05090	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	147	cd05091	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	150	cd05048	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	175	cd06614	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	128	cd05077	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	247	cd05104	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	420	smart00219	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	279	pfam07714	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	214	pfam00069	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	150	cd05075	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	136	cd05074	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	146	cd05035	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	124	cd05589	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	175	cd07830	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	163	cd07829	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	535	smart00221	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	46	smart00750	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd05071	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	143	cd05061	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	159	cd05056	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	127	cd05052	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	142	cd05062	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	187	cd05032	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	141	cd05036	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd05067	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd05070	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd05069	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd05082	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	128	cd05148	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	123	cd05083	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	126	cd05034	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	129	cd05039	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	128	cd05068	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	126	cd05073	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	126	cd05072	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	154	cd07866	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	124	cd05578	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	139	cd06648	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	133	cd06629	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	126	cd06630	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	138	cd06622	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	123	cd08219	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	160	cd05101	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	125	cd05078	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	138	cd06616	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	172	cd07840	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	157	cd07851	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	118	cd05115	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	364	cd00180	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	126	cd05042	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	639	cd05123	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	120	cd05608	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	130	cd05080	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	129	cd05066	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	132	cd05079	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	151	cd05038	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	161	cd05033	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	131	cd05081	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	129	cd05065	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	132	cd05108	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	132	cd05109	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	132	cd05111	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	124	cd05113	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	245	cd05106	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	129	cd08529	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	135	cd06610	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	136352.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, I	OMIM	425	smart00220	103472027,NP_002011
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	126_G	cd05098	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	42	cd06628	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	38	cd08223	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	114	cd05053	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	111_G	cd05099	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	111_G	cd05100	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	146	cd05055	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	173_G	cd06606	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	105_G	cd06627	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	120_G	cd07841	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	96_G	cd06631	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	105_G	cd07832	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	97_G	cd06626	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	111_G	cd06632	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	98_G	cd05045	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	97	cd08530	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	119_G	cd05122	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	148	cd05107	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	172	cd05105	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	32_G	cd06617	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	124_G	cd06608	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	113_G	cd06612	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	91_G	cd05059	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	101_G	cd06613	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	91_G	cd05114	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	98_G	cd05112	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	170	cd05581	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	99_G	cd06625	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	102_G	cd06605	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	144	cd05580	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	104	cd05089	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	105_G	cd07833	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	134_G	cd06623	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	468	COG0515	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	106_G	cd08217	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	91	cd08221	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	102_G	cd05118	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	97	cd05047	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	91_G	cd05116	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	99_G	cd05060	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	92_G	cd05087	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	128_G	cd08215	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	87_G	cd05084	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	90_G	cd05085	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	91_G	cd05086	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	92_G	cd05044	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	92_G	cd05041	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	95_G	cd05040	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	85_G	cd05570	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	97_G	cd05058	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	108_G	cd05037	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	255	cd00192	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	85_G	cd05582	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	108_G	cd08224	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	130_G	cd05043	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	157_G	cd05057	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	118	cd05103	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	118	cd05054	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	118	cd05102	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	23	cd08229	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	44	cd06659	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	53	cd05605	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	83_G	cd07846	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	15	cd05577	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	56	cd05110	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	109	cd05088	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	99_G	cd06644	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	46	cd06651	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	108_G	cd05063	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	98_G	cd05064	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	106	cd05049	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	170_G	cd05046	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	139_G	cd05051	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	110	cd05050	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	114_G	cd05096	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	113_G	cd05095	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	110_G	cd05097	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	103	cd05094	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	101_G	cd05093	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	94_G	cd06611	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	101_G	cd05092	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	108_G	cd05090	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	108_G	cd05091	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	105	cd05048	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	134	cd06614	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	42	cd05077	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	145	cd05104	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	318	smart00219	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	160	pfam07714	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	134_G	pfam00069	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	97_G	cd05075	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	109_G	cd05074	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	117	cd05035	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	99_G	cd05589	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	141_G	cd07830	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	116_G	cd07829	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	409	smart00221	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	91_G	cd05071	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	104_G	cd05061	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	132_G	cd05056	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	95_G	cd05052	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	104_G	cd05062	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	138	cd05032	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	104_G	cd05036	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	91_G	cd05067	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	92_G	cd05070	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	92_G	cd05069	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	93_G	cd05082	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	97	cd05148	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	91_G	cd05083	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	92_G	cd05034	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	97_G	cd05039	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	96_G	cd05068	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	92_G	cd05073	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	92_G	cd05072	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	29	cd07866	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	102	cd06629	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	94_G	cd06630	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	62_G	cd06622	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	58	cd08219	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	123_G	cd05101	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	19_G	cd05078	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	115_G	cd07851	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	91_G	cd05115	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	304	cd00180	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	104	cd05042	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	359_G	cd05123	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	31	cd05608	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	100	cd05080	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	100_G	cd05066	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	100_G	cd05079	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	122_G	cd05038	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	133_G	cd05033	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	102_G	cd05081	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	99_G	cd05065	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	104_G	cd05109	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	108_G	cd05111	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	105_G	cd05108	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	94_G	cd05113	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	153	cd05106	NULL
2324	104294888	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	342	smart00220	NULL
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	126_G	cd05098	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	42	cd06628	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	38	cd08223	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	114	cd05053	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	111_G	cd05099	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	111_G	cd05100	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	146	cd05055	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	173_G	cd06606	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	105_G	cd06627	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	120_G	cd07841	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	96_G	cd06631	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	105_G	cd07832	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	97_G	cd06626	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	111_G	cd06632	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	98_G	cd05045	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	97	cd08530	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	119_G	cd05122	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	148	cd05107	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	172	cd05105	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	32_G	cd06617	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	124_G	cd06608	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	113_G	cd06612	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	91_G	cd05059	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	101_G	cd06613	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	91_G	cd05114	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	98_G	cd05112	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	170	cd05581	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	99_G	cd06625	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	102_G	cd06605	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	144	cd05580	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	104	cd05089	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	468	COG0515	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	105_G	cd07833	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	134_G	cd06623	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	106_G	cd08217	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	91	cd08221	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	102_G	cd05118	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	97	cd05047	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	91_G	cd05116	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	99_G	cd05060	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	92_G	cd05087	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	128_G	cd08215	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	87_G	cd05084	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	90_G	cd05085	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	91_G	cd05086	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	92_G	cd05044	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	92_G	cd05041	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	95_G	cd05040	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	85_G	cd05570	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	97_G	cd05058	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	108_G	cd05037	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	255	cd00192	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	85_G	cd05582	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	108_G	cd08224	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	130_G	cd05043	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	157_G	cd05057	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	118	cd05103	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	118	cd05054	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	118	cd05102	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	23	cd08229	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	44	cd06659	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	53	cd05605	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	83_G	cd07846	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	15	cd05577	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	56	cd05110	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	109	cd05088	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	99_G	cd06644	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	46	cd06651	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	108_G	cd05063	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	98_G	cd05064	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	106	cd05049	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	170_G	cd05046	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	139_G	cd05051	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	110	cd05050	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	114_G	cd05096	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	113_G	cd05095	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	110_G	cd05097	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	103	cd05094	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	101_G	cd05093	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	94_G	cd06611	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	101_G	cd05092	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	108_G	cd05090	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	108_G	cd05091	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	105	cd05048	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	134	cd06614	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	42	cd05077	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	145	cd05104	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	318	smart00219	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	160	pfam07714	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	134_G	pfam00069	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	97_G	cd05075	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	109_G	cd05074	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	117	cd05035	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	99_G	cd05589	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	141_G	cd07830	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	116_G	cd07829	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	409	smart00221	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	91_G	cd05071	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	104_G	cd05061	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	132_G	cd05056	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	95_G	cd05052	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	104_G	cd05062	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	138	cd05032	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	104_G	cd05036	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	91_G	cd05067	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	92_G	cd05070	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	92_G	cd05069	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	93_G	cd05082	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	97	cd05148	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	91_G	cd05083	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	92_G	cd05034	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	97_G	cd05039	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	96_G	cd05068	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	92_G	cd05073	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	92_G	cd05072	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	29	cd07866	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	102	cd06629	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	94_G	cd06630	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	62_G	cd06622	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	58	cd08219	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	123_G	cd05101	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	19_G	cd05078	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	115_G	cd07851	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	91_G	cd05115	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	304	cd00180	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	104	cd05042	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	359_G	cd05123	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	31	cd05608	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	100	cd05080	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	100_G	cd05066	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	100_G	cd05079	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	122_G	cd05038	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	133_G	cd05033	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	102_G	cd05081	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	99_G	cd05065	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	105_G	cd05108	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	104_G	cd05109	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	108_G	cd05111	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	94_G	cd05113	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	153	cd05106	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	136352.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC	OMIM	342	smart00220	103472027,NP_002011
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	55	cd05098	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	49	cd05053	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	49	cd05099	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	49	cd05100	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	72	cd05055	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	43	cd06606	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	31	cd06627	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	32	cd07841	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	29	cd06631	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	32	cd07832	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	31	cd06626	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	33	cd06632	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd05045	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	30	cd08530	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	45	cd05122	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	72	cd05107	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	72	cd05105	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	37	cd06608	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	40	cd06612	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	33	cd05059	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	33	cd06613	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	33	cd05114	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	33	cd05112	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	76	cd05581	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	37	cd06625	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	31	cd06605	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	78	cd05580	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	34	cd05089	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	33	cd07833	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	39	cd06623	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	197	COG0515	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	30	cd08217	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd08221	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	29	cd05118	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	27	cd05047	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	27	cd05116	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	32	cd05060	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	27	cd05087	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	33	cd08215	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	25	cd05084	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	25	cd05085	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	27	cd05086	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	31	cd05044	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	25	cd05041	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	29	cd05040	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	25	cd05570	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd05058	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	49	cd05037	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	72	cd00192	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	29	cd05582	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	33	cd08224	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	54	cd05043	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	61	cd05057	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	42	cd05103	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	42	cd05054	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	42	cd05102	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	31	cd07846	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	39	cd05088	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	41	cd06644	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	39	cd05063	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	38	cd05064	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	40	cd05049	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	100	cd05046	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	71	cd05051	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	40	cd05050	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	51	cd05096	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	54	cd05095	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	51	cd05097	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	40	cd05094	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	40	cd05093	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	36	cd06611	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	40	cd05092	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	39	cd05090	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	40	cd05091	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	41	cd05048	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	55	cd06614	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	70	cd05104	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	101	smart00219	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	53	pfam07714	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	39	pfam00069	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	31	cd05075	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	32	cd05074	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	42	cd05035	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	29	cd05589	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	62	cd07830	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	32	cd07829	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	104	smart00221	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd05071	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	41	cd05061	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	63	cd05056	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	36	cd05052	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	41	cd05062	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	72	cd05032	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	41	cd05036	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd05067	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd05070	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd05069	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	34	cd05082	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	36	cd05148	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	34	cd05083	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd05034	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	34	cd05039	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd05068	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd05073	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd05072	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	31	cd06629	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	30	cd06630	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	52	cd05101	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	52	cd07851	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	27	cd05115	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	63	cd00180	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	30	cd05042	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	26	cd05123	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	38	cd05080	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	37	cd05066	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	38	cd05079	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	40	cd05038	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	61	cd05033	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	38	cd05081	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	37	cd05065	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	41	cd05109	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	41	cd05111	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	41	cd05108	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	33	cd05113	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	74	cd05106	NULL
2324	104294888	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	60	smart00220	NULL
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	55	cd05098	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	49	cd05053	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	49	cd05099	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	49	cd05100	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	72	cd05055	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	43	cd06606	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	31	cd06627	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	32	cd07841	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	29	cd06631	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	32	cd07832	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	31	cd06626	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	33	cd06632	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd05045	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	30	cd08530	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	45	cd05122	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	72	cd05107	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	72	cd05105	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	37	cd06608	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	40	cd06612	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	33	cd05059	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	33	cd06613	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	33	cd05114	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	33	cd05112	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	76	cd05581	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	37	cd06625	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	31	cd06605	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	78	cd05580	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	34	cd05089	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	197	COG0515	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	33	cd07833	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	39	cd06623	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	30	cd08217	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd08221	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	29	cd05118	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	27	cd05047	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	27	cd05116	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	32	cd05060	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	27	cd05087	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	33	cd08215	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	25	cd05084	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	25	cd05085	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	27	cd05086	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	31	cd05044	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	25	cd05041	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	29	cd05040	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	25	cd05570	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd05058	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	49	cd05037	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	72	cd00192	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	29	cd05582	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	33	cd08224	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	54	cd05043	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	61	cd05057	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	42	cd05103	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	42	cd05054	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	42	cd05102	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	31	cd07846	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	39	cd05088	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	41	cd06644	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	39	cd05063	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	38	cd05064	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	40	cd05049	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	100	cd05046	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	71	cd05051	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	40	cd05050	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	51	cd05096	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	54	cd05095	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	51	cd05097	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	40	cd05094	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	40	cd05093	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	36	cd06611	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	40	cd05092	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	39	cd05090	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	40	cd05091	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	41	cd05048	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	55	cd06614	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	70	cd05104	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	101	smart00219	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	53	pfam07714	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	39	pfam00069	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	31	cd05075	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	32	cd05074	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	42	cd05035	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	29	cd05589	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	62	cd07830	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	32	cd07829	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	104	smart00221	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd05071	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	41	cd05061	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	63	cd05056	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	36	cd05052	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	41	cd05062	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	72	cd05032	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	41	cd05036	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd05067	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd05070	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd05069	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	34	cd05082	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	36	cd05148	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	34	cd05083	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd05034	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	34	cd05039	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd05068	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd05073	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	35	cd05072	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	31	cd06629	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	30	cd06630	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	52	cd05101	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	52	cd07851	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	27	cd05115	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	63	cd00180	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	30	cd05042	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	26	cd05123	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	38	cd05080	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	37	cd05066	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	38	cd05079	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	40	cd05038	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	61	cd05033	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	38	cd05081	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	37	cd05065	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	41	cd05108	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	41	cd05109	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	41	cd05111	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	33	cd05113	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	74	cd05106	103472027,NP_002011
2324	1718189	Disease	p.Val878Met	136352.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	60	smart00220	103472027,NP_002011
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05098	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	188	cd06628	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	174	cd08223	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	190	cd06618	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	224	cd05053	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	208	cd05099	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	208	cd05100	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	313	cd05055	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	288	cd06606	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd06627	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd07841	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	182	cd06631	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	194	cd07832	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	207	cd06626	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	194	cd06632	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05045	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	180	cd08530	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	212	cd05122	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	316	cd05107	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	314	cd05105	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	176	cd06617	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd06608	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	188	cd06612	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	175	cd05059	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	175	cd06613	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	173	cd05114	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	173	cd05112	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	409	cd05581	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	181	cd06625	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	191	cd06605	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	233	cd05580	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	190	cd05089	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	220	cd07833	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	226	cd06623	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	809	COG0515	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	243	cd08217	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	176	cd08221	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	184	cd05118	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	183	cd05047	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	170	cd05116	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	177	cd05060	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	178	cd05087	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	240	cd08215	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	168	cd05084	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	167	cd05085	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	177	cd05086	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	191	cd05044	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	170	cd05041	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	185	cd05040	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	170	cd05570	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	181	cd05058	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	197	cd05037	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	403	cd00192	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	170	cd05582	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	179	cd08224	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	219	cd05043	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	195	cd07845	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	185	cd06917	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd06609	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd05057	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	254	cd05103	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	303	cd05054	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	252	cd05102	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	178	cd08229	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	189	cd06659	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	173	cd05605	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	174	cd07846	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	172	cd05577	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	183	cd05110	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	195	cd05088	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	182	cd06644	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	181	cd06651	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	183	cd05063	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	181	cd05064	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	206	cd05049	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	259	cd05046	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	244	cd05051	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	207	cd05050	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	241	cd05096	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd05095	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	205	cd05097	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	204	cd05094	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	194	cd05093	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	177	cd06611	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	196	cd05092	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	198	cd05090	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	198	cd05091	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05048	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	226	cd06614	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	180	cd05077	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	298	cd05104	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	559	smart00219	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	357	pfam07714	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	309	pfam00069	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05075	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	187	cd05074	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	197	cd05035	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	173	cd05589	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	246	cd07830	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	226	cd07829	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	776	smart00221	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	119	smart00750	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	175	cd05071	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	194	cd05061	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05056	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	177	cd05052	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	193	cd05062	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	238	cd05032	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	196	cd05036	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	175	cd05067	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	175	cd05070	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	175	cd05069	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	171	cd05082	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	178	cd05148	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	169	cd05083	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	186	cd05034	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	178	cd05039	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	181	cd05068	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	176	cd05073	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	176	cd05072	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	221	cd07866	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	178	cd05578	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	188	cd06648	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	185	cd06629	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	181	cd06630	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	186	cd06622	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	172	cd08219	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05101	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	178	cd05078	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	186	cd06616	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	273	cd07840	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	206	cd07851	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	170	cd05115	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	632	cd00180	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	185	cd05042	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	741	cd05123	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	169	cd05608	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	182	cd05080	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	181	cd05066	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	184	cd05079	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	207	cd05038	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	217	cd05033	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	183	cd05081	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	183	cd05065	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	183	cd05109	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	183	cd05111	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	183	cd05108	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	174	cd05113	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	296	cd05106	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	178	cd08529	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	194	cd06610	NULL
2324	104294888	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	712	smart00220	NULL
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05098	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	188	cd06628	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	174	cd08223	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	190	cd06618	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	224	cd05053	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	208	cd05099	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	208	cd05100	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	313	cd05055	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	288	cd06606	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd06627	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd07841	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	182	cd06631	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	194	cd07832	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	207	cd06626	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	194	cd06632	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05045	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	180	cd08530	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	212	cd05122	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	316	cd05107	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	314	cd05105	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	176	cd06617	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd06608	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	188	cd06612	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	175	cd05059	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	175	cd06613	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	173	cd05114	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	173	cd05112	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	409	cd05581	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	181	cd06625	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	191	cd06605	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	233	cd05580	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	190	cd05089	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	809	COG0515	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	220	cd07833	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	226	cd06623	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	243	cd08217	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	176	cd08221	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	184	cd05118	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	183	cd05047	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	170	cd05116	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	177	cd05060	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	178	cd05087	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	240	cd08215	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	168	cd05084	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	167	cd05085	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	177	cd05086	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	191	cd05044	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	170	cd05041	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	185	cd05040	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	170	cd05570	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	181	cd05058	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	197	cd05037	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	403	cd00192	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	170	cd05582	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	179	cd08224	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	219	cd05043	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	195	cd07845	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	185	cd06917	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd06609	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd05057	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	254	cd05103	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	303	cd05054	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	252	cd05102	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	178	cd08229	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	189	cd06659	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	173	cd05605	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	174	cd07846	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	172	cd05577	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	183	cd05110	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	195	cd05088	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	182	cd06644	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	181	cd06651	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	183	cd05063	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	181	cd05064	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	206	cd05049	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	259	cd05046	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	244	cd05051	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	207	cd05050	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	241	cd05096	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd05095	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	205	cd05097	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	204	cd05094	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	194	cd05093	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	177	cd06611	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	196	cd05092	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	198	cd05090	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	198	cd05091	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05048	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	226	cd06614	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	180	cd05077	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	298	cd05104	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	559	smart00219	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	357	pfam07714	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	309	pfam00069	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05075	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	187	cd05074	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	197	cd05035	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	173	cd05589	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	246	cd07830	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	226	cd07829	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	776	smart00221	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	119	smart00750	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	175	cd05071	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	194	cd05061	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05056	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	177	cd05052	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	193	cd05062	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	238	cd05032	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	196	cd05036	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	175	cd05067	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	175	cd05070	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	175	cd05069	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	171	cd05082	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	178	cd05148	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	169	cd05083	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	186	cd05034	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	178	cd05039	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	181	cd05068	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	176	cd05073	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	176	cd05072	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	221	cd07866	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	178	cd05578	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	188	cd06648	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	185	cd06629	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	181	cd06630	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	186	cd06622	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	172	cd08219	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05101	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	178	cd05078	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	186	cd06616	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	273	cd07840	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	206	cd07851	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	170	cd05115	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	632	cd00180	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	185	cd05042	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	741	cd05123	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	169	cd05608	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	182	cd05080	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	181	cd05066	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	184	cd05079	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	207	cd05038	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	217	cd05033	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	183	cd05081	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	183	cd05065	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	183	cd05108	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	183	cd05109	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	183	cd05111	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	174	cd05113	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	296	cd05106	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	178	cd08529	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	194	cd06610	103472027,NP_002011
2324	1718189	Disease	p.Ile1086Thr	136352.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	712	smart00220	103472027,NP_002011
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	234	cd05098	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	208	cd06628	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	194	cd08223	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd06618	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	244	cd05053	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	228	cd05099	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	228	cd05100	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	333	cd05055	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	338	cd06606	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd06627	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	230	cd07841	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	202	cd06631	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	219	cd07832	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	239	cd06626	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	218	cd06632	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	221	cd05045	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	200	cd08530	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd05122	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	336	cd05107	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	334	cd05105	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	200	cd06617	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	245	cd06608	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	212	cd06612	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	195	cd05059	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd06613	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	193	cd05114	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	193	cd05112	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	443	cd05581	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	202	cd06625	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	216	cd06605	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	255	cd05580	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	210	cd05089	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	252	cd07833	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	251	cd06623	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	918	COG0515	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	265	cd08217	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	196	cd08221	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	205	cd05118	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05047	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	190	cd05116	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	197	cd05060	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	206	cd05087	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	261	cd08215	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	188	cd05084	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	187	cd05085	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05086	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05044	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	190	cd05041	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	205	cd05040	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	190	cd05570	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05058	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	223	cd05037	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	430	cd00192	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	190	cd05582	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	199	cd08224	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	239	cd05043	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	216	cd07845	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	206	cd06917	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	223	cd06609	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	257	cd05057	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	274	cd05103	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	323	cd05054	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	272	cd05102	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	198	cd08229	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd06659	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	193	cd05605	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	195	cd07846	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	193	cd05577	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05110	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd05088	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	207	cd06644	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd06651	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05063	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05064	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	226	cd05049	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	279	cd05046	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	264	cd05051	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	227	cd05050	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	261	cd05096	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	235	cd05095	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	225	cd05097	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	224	cd05094	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05093	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	202	cd06611	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	216	cd05092	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	218	cd05090	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	218	cd05091	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	221	cd05048	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	246	cd06614	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05077	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	318	cd05104	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	582	smart00219	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	389	pfam07714	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	344	pfam00069	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	221	cd05075	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	207	cd05074	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	217	cd05035	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	193	cd05589	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	268	cd07830	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	247	cd07829	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	858	smart00221	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	183	smart00750	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	195	cd05071	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05061	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	231	cd05056	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	197	cd05052	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	213	cd05062	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	258	cd05032	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	216	cd05036	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	195	cd05067	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	195	cd05070	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	195	cd05069	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	191	cd05082	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	198	cd05148	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	189	cd05083	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	206	cd05034	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	198	cd05039	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05068	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	196	cd05073	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	196	cd05072	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	242	cd07866	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05578	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	208	cd06648	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	208	cd06629	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd06630	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	217	cd06622	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	192	cd08219	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	231	cd05101	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	199	cd05078	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	210	cd06616	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	292	cd07840	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	247	cd07851	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	190	cd05115	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	677	cd00180	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	205	cd05042	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	804	cd05123	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	189	cd05608	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	202	cd05080	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05066	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	204	cd05079	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	230	cd05038	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd05033	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05081	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05065	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05109	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05111	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05108	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	194	cd05113	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	316	cd05106	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	198	cd08529	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	216	cd06610	NULL
2324	104294888	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	786	smart00220	NULL
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	234	cd05098	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	208	cd06628	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	194	cd08223	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd06618	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	244	cd05053	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	228	cd05099	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	228	cd05100	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	333	cd05055	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	338	cd06606	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd06627	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	230	cd07841	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	202	cd06631	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	219	cd07832	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	239	cd06626	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	218	cd06632	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	221	cd05045	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	200	cd08530	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd05122	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	336	cd05107	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	334	cd05105	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	200	cd06617	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	245	cd06608	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	212	cd06612	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	195	cd05059	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd06613	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	193	cd05114	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	193	cd05112	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	443	cd05581	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	202	cd06625	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	216	cd06605	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	255	cd05580	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	210	cd05089	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	918	COG0515	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	252	cd07833	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	251	cd06623	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	265	cd08217	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	196	cd08221	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	205	cd05118	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05047	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	190	cd05116	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	197	cd05060	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	206	cd05087	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	261	cd08215	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	188	cd05084	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	187	cd05085	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05086	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	211	cd05044	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	190	cd05041	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	205	cd05040	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	190	cd05570	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05058	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	223	cd05037	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	430	cd00192	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	190	cd05582	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	199	cd08224	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	239	cd05043	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	216	cd07845	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	206	cd06917	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	223	cd06609	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	257	cd05057	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	274	cd05103	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	323	cd05054	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	272	cd05102	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	198	cd08229	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	209	cd06659	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	193	cd05605	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	195	cd07846	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	193	cd05577	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05110	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	215	cd05088	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	207	cd06644	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd06651	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05063	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05064	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	226	cd05049	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	279	cd05046	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	264	cd05051	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	227	cd05050	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	261	cd05096	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	235	cd05095	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	225	cd05097	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	224	cd05094	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05093	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	202	cd06611	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	216	cd05092	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	218	cd05090	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	218	cd05091	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	221	cd05048	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	246	cd06614	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05077	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	318	cd05104	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	582	smart00219	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	389	pfam07714	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	344	pfam00069	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	221	cd05075	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	207	cd05074	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	217	cd05035	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	193	cd05589	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	268	cd07830	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	247	cd07829	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	858	smart00221	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	183	smart00750	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	195	cd05071	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	214	cd05061	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	231	cd05056	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	197	cd05052	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	213	cd05062	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	258	cd05032	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	216	cd05036	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	195	cd05067	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	195	cd05070	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	195	cd05069	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	191	cd05082	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	198	cd05148	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	189	cd05083	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	206	cd05034	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	198	cd05039	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05068	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	196	cd05073	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	196	cd05072	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	242	cd07866	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05578	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	208	cd06648	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	208	cd06629	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd06630	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	217	cd06622	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	192	cd08219	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	231	cd05101	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	199	cd05078	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	210	cd06616	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	292	cd07840	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	247	cd07851	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	190	cd05115	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	677	cd00180	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	205	cd05042	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	804	cd05123	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	189	cd05608	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	202	cd05080	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	201	cd05066	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	204	cd05079	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	230	cd05038	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	237	cd05033	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05081	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05065	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05108	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05109	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	203	cd05111	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	194	cd05113	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	316	cd05106	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	198	cd08529	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	216	cd06610	103472027,NP_002011
2324	1718189	Disease	p.Glu1106Lys	136352.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	786	smart00220	103472027,NP_002011
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	30	cd05098	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	24	cd05053	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	24	cd05099	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	24	cd05100	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	49	cd05055	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd06606	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd06627	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd07841	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	12	cd06631	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	12	cd07832	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd06626	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	12	cd06632	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	12	cd05045	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	12	cd08530	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05122	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	49	cd05107	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	49	cd05105	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd06608	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	15	cd06612	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05059	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	15	cd06613	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05114	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05112	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05581	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd06625	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd06605	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd05580	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd05089	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd07833	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd06623	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	54	COG0515	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	12	cd08217	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	12	cd08221	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	11	cd05118	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05047	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05116	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05060	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05087	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	12	cd08215	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05084	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05085	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05086	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05044	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05041	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05040	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05570	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05058	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05037	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd00192	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	8	cd05582	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd08224	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05043	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	30	cd05057	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05103	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05054	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05102	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	5	cd07846	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05088	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	24	cd06644	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05063	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05064	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05049	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05046	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	25	cd05051	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05050	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05096	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05095	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05097	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05094	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05093	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd06611	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05092	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05090	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05091	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05048	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	32	cd06614	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	47	cd05104	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	11	smart00219	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	15	pfam07714	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	11	pfam00069	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	11	cd05075	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	11	cd05074	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	11	cd05035	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	11	cd05589	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	11	cd07830	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	12	cd07829	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	11	smart00221	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05071	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05061	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05056	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05052	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05062	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05032	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05036	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05067	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05070	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05069	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05082	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05148	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05083	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05034	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05039	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05068	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05073	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05072	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd06629	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	12	cd06630	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	27	cd05101	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	27	cd07851	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05115	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	5	cd00180	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05042	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	5	cd05123	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05080	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05066	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05079	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05038	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05033	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05081	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05065	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05109	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05111	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05108	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05113	NULL
2324	104294888	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	50	cd05106	NULL
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	30	cd05098	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	24	cd05053	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	24	cd05099	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	24	cd05100	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	49	cd05055	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd06606	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd06627	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd07841	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	12	cd06631	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	12	cd07832	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd06626	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	12	cd06632	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	12	cd05045	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	12	cd08530	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05122	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	49	cd05107	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	49	cd05105	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd06608	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	15	cd06612	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05059	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	15	cd06613	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05114	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05112	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05581	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd06625	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd06605	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd05580	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd05089	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	54	COG0515	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd07833	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd06623	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	12	cd08217	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	12	cd08221	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	11	cd05118	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05047	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05116	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05060	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05087	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	12	cd08215	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05084	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05085	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05086	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05044	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05041	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05040	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05570	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05058	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05037	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd00192	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	8	cd05582	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	14	cd08224	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05043	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	30	cd05057	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05103	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05054	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05102	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	5	cd07846	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05088	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	24	cd06644	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05063	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05064	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05049	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05046	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	25	cd05051	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05050	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05096	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05095	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05097	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05094	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05093	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd06611	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05092	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05090	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05091	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05048	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	32	cd06614	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	47	cd05104	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	11	smart00219	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	15	pfam07714	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	11	pfam00069	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	11	cd05075	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	11	cd05074	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	11	cd05035	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	11	cd05589	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	11	cd07830	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	12	cd07829	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	11	smart00221	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05071	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05061	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05056	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05052	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05062	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	20	cd05032	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05036	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05067	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05070	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05069	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05082	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05148	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05083	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05034	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05039	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05068	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05073	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	18	cd05072	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	13	cd06629	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	12	cd06630	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	27	cd05101	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	27	cd07851	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05115	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	5	cd00180	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	7	cd05042	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	5	cd05123	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05080	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05066	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05079	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	17	cd05038	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05033	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05081	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05065	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05108	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05109	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	19	cd05111	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	16	cd05113	103472027,NP_002011
2324	1718189	Disease	p.Ala855Thr	136352.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136352	LYMPHEDEMA, HEREDITARY, IA	OMIM	50	cd05106	103472027,NP_002011
2260	120046	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	3	cd05732	105990522,NP_075598
2260	291327489	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	3	cd05732	NULL
2260	291327491	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	7_G	cd05869	NULL
2260	291327491	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	5	pfam07679	NULL
2260	291327491	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	6	cd04968	NULL
2260	291327491	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	8_G	cd05732	NULL
2260	291327495	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	95	pfam07679	NULL
2260	291327495	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	120	smart00408	NULL
2260	291327495	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	71	cd04968	NULL
2260	291327495	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	82	cd05732	NULL
2260	291327495	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	55	cd05725	NULL
2260	291327495	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	56	cd05736	NULL
2260	291327495	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	125	cd00096	NULL
2260	291327495	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	112	pfam07686	NULL
2260	291327495	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	65	cd05765	NULL
2260	291327495	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	70	cd04969	NULL
2260	291327495	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	90	pfam00047	NULL
2260	291327495	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	73	cd05858	NULL
2260	291327495	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	90	cd04974	NULL
2260	291327495	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	57	cd05723	NULL
2260	291327495	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	68	cd05729	NULL
2260	291327495	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	200	smart00409	NULL
2260	291327495	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	200	smart00410	NULL
2260	291327495	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	80	cd05869	NULL
2260	13186236	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	67	cd05765	NULL
2260	13186236	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	72	cd04969	NULL
2260	13186236	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	75	cd05858	NULL
2260	13186236	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	92	cd04974	NULL
2260	13186236	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	82	cd05869	NULL
2260	13186236	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	57	cd05725	NULL
2260	13186236	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	127	cd00096	NULL
2260	13186236	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	58	cd05736	NULL
2260	13186236	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	97	pfam07679	NULL
2260	13186236	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	122	smart00408	NULL
2260	13186236	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	59	cd05723	NULL
2260	13186236	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	84	cd05732	NULL
2260	13186236	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	114	pfam07686	NULL
2260	13186236	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	73	cd04968	NULL
2260	13186236	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	70	cd05729	NULL
2260	13186236	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	205	smart00409	NULL
2260	13186236	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	205	smart00410	NULL
2260	13186251	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	2	cd05869	NULL
2260	13186251	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	4_G	cd05732	NULL
2260	291327493	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	2	cd05869	NULL
2260	291327493	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	4_G	cd05732	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	66	cd05737	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	59	cd05728	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	86	pfam07679	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	56	cd05856	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	59	cd05729	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	59	cd05857	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	183	smart00409	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	183	smart00410	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	48	cd05745	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	110	smart00408	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	55	cd05750	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	67	cd05724	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	48	cd05723	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	56	cd05765	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	80	pfam00047	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	44	cd05876	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	44	cd05731	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	46	cd05725	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	47	cd05736	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	100	cd00096	NULL
2260	291327497	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	48	cd05763	NULL
2260	13186234	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	95	pfam07679	NULL
2260	13186234	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	120	smart00408	NULL
2260	13186234	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	71	cd04968	NULL
2260	13186234	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	82	cd05732	NULL
2260	13186234	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	55	cd05725	NULL
2260	13186234	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	56	cd05736	NULL
2260	13186234	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	125	cd00096	NULL
2260	13186234	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	112	pfam07686	NULL
2260	13186234	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	65	cd05765	NULL
2260	13186234	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	70	cd04969	NULL
2260	13186234	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	90	pfam00047	NULL
2260	13186234	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	73	cd05858	NULL
2260	13186234	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	90	cd04974	NULL
2260	13186234	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	57	cd05723	NULL
2260	13186234	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	68	cd05729	NULL
2260	13186234	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	200	smart00409	NULL
2260	13186234	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	200	smart00410	NULL
2260	13186234	Disease	p.Pro252Arg	136350.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	PFEIFFER SYNDROME||JACKSON-WEISS SYNDROME	OMIM	80	cd05869	NULL
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd06636	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	231	cd05057	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	248	cd05103	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	297	cd05054	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	246	cd05102	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd07845	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	220	cd06614	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd07878	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	199	cd07851	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd07850	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	201	cd06639	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd07852	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	113	smart00750	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd06648	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	310	cd05107	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	706	smart00220	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd08221	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd05577	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	163	cd05608	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	700	cd05579	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05115	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	689	cd05123	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05047	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	229	cd05572	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	626	cd00180	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	159	cd05585	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd06917	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06634	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd07877	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd05089	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	188	cd05061	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd05073	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05070	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05067	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd05068	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	165	cd05082	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd05034	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	163	cd05083	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05039	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05148	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd05072	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06637	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd05036	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd05062	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	232	cd05032	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd07858	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	205	cd05056	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05052	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd07849	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	186	cd07864	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd07870	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05071	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05069	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd06638	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	202	cd05099	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	218	cd05053	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	202	cd05100	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd06659	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd06658	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd07880	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	205	cd05101	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd06624	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	181	cd06656	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	181	cd06655	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06607	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	181	cd06647	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	168	cd08223	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd06628	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	206	cd05122	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd07836	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd07863	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd07860	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	167	cd05615	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	282	cd06606	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	201	cd06626	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	168	cd08225	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	195	cd05045	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	242	cd07834	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd07857	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	168	cd07859	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	234_G	cd08215	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05614	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd06651	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd08222	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	167	cd08218	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	195	cd07854	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd08530	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	209	cd06627	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	203	cd07841	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd07853	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd06629	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd05583	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd05613	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd08528	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd06646	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd06645	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd06635	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd06657	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd06625	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	165	cd07839	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	199	cd06652	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd08224	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd06653	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	213	cd05043	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd07871	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	167	cd05630	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	167	cd05632	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	167	cd05605	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05081	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	195	cd07865	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd06643	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd06611	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	176	cd06644	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd06618	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	176	cd06631	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd05584	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd06630	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	188	cd06632	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd07844	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	167	cd06640	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	167	cd06641	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd06613	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	167	cd06642	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	209	cd06608	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd06654	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	308	cd05105	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	206	cd07866	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05110	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05111	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	167	cd05112	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05059	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	168	cd05113	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	167	cd05114	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd05088	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	211	cd05033	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05065	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	201	cd05038	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd05079	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd05066	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05108	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd06616	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05109	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd07831	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	195	cd07848	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	237_G	cd08217	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	202	cd07833	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	403	cd05581	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	280	cd07842	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	167	cd07846	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	218	cd07840	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	220	cd06623	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	195	cd06609	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175_G	cd06621	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd06605	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd06615	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172_G	cd07856	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	176	cd07862	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd07847	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	168	cd07861	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd08229	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd08219	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd07872	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	167	cd05616	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05587	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd07873	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	188	cd06610	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	227_G	cd05580	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd08529	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd08228	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd06617	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd07832	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd06622	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd06619	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd07837	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	803	COG0515	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05612	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	186	cd07843	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	292	cd05104	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	192	cd05091	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	195	cd05048	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	192	cd05090	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	200	cd05049	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd05092	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	235	cd05096	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	199	cd05097	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	253	cd05046	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	238	cd05051	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	209	cd05095	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	201	cd05050	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd06620	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd05064	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05063	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	198	cd05094	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	188	cd05093	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	307	cd05055	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05041	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd05087	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05042	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05040	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	161	cd05085	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	162	cd05084	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd05044	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	186	cd05076	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05078	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	191	cd05037	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	397	cd00192	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05077	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	162	cd05602	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	193	cd07835	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	162	cd05588	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05116	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05060	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05582	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	162	cd05590	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	162	cd05619	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05570	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05620	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	168	cd05086	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd05058	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	161	cd05593	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	162	cd05591	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	162	cd05603	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	176	cd08220	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd05592	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	162	cd05571	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	162	cd05617	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05118	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	162	cd05594	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	290	cd05106	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	208	cd05098	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05578	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	198	cd07838	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	769	smart00221	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	176	cd05080	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	553	smart00219	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	295	pfam00069	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	242_G	cd07830	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd06612	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	348	pfam07714	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	210	cd07829	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	195	cd05075	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	181	cd05074	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	191	cd05035	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	167	cd05589	105990522,NP_075598
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	196	cd07852	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	203	cd06639	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd06656	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	207	cd05101	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd06647	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd07880	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd06655	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd06624	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd06607	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	210	cd05098	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	191	cd07845	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	222	cd06614	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	294	cd05104	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	292	cd05106	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	220	cd05053	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	204	cd05100	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	192	cd06638	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	204	cd05099	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	202	cd07851	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd07878	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd07850	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	309	cd05055	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	198	cd07865	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd06643	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	229	cd07840	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	216	cd07833	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	405	cd05581	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	283	cd07842	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	239	cd08217	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd07831	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	198	cd07848	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd07846	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	250	cd05103	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	299	cd05054	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	248	cd05102	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd06636	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	233	cd05057	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05594	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd05116	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd05060	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd08220	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd05086	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05058	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	195	cd07835	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	163	cd05593	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05591	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd05118	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd05570	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd05582	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05590	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05619	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd05592	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05571	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05617	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd05041	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd05087	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05042	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	181	cd05040	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	163	cd05085	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05084	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd05044	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05603	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05620	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05602	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05588	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	188	cd05076	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05078	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	193	cd05037	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	399	cd00192	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	176	cd05077	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06651	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd08222	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd08218	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	236	cd08215	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd07836	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd07863	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	168	cd07860	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd07853	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	197	cd05045	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd08223	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd06628	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	198	cd07854	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd07857	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	255	cd07834	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd07859	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	284	cd06606	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	203	cd06626	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd08225	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	176	cd08530	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	211	cd06627	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	205	cd07841	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	181	cd06629	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	191	cd08528	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05615	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd05583	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd05613	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05614	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	208	cd05122	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05578	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	312	cd05107	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd07837	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd06610	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd07862	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd07847	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd07861	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd06617	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	805	COG0515	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	193	cd06622	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	168	cd06615	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd07873	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	222	cd06623	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd07856	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd06619	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd08229	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	168	cd08219	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06621	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd06605	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	229	cd05580	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd08529	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd08228	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd07832	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05587	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	197	cd06609	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd05612	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd07872	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05616	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd06635	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	222	cd07829	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd05080	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	217	cd07838	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05589	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	197	cd05075	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd05074	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	193	cd05035	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	771	smart00221	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	555	smart00219	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	297	pfam00069	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	243	cd07830	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd06612	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	353	pfam07714	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	310	cd05105	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	737	cd05123	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05047	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd08221	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd05115	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	239	cd05572	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	628	cd00180	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	161	cd05585	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	181	cd06917	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	711	cd05579	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	168	cd05577	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	165	cd05608	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd06654	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd06659	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd06620	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	200	cd05094	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd05093	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05064	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05063	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	202	cd05049	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	192	cd05092	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	237	cd05096	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	201	cd05097	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	255	cd05046	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	240	cd05051	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	211	cd05095	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	203	cd05050	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	194	cd05091	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	197	cd05048	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	194	cd05090	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	115	smart00750	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05071	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd05052	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	207	cd05056	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05073	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05070	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05067	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05068	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	167	cd05082	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd05034	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	165	cd05083	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05039	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05148	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05072	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05069	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	188	cd07864	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd07870	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd07858	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	192	cd07849	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd06637	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	192	cd05036	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd05062	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	234	cd05032	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	186	cd05089	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd05061	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd06646	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd06645	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd07843	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	213	cd05033	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05065	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	203	cd05038	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd05079	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05066	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05108	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd06616	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05109	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	217	cd07866	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	191	cd05088	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05112	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05059	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd05113	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05114	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05110	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05111	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd06644	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd06611	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	186	cd06618	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd06657	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd06648	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd08224	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd07871	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05081	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	201	cd06652	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06653	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	215	cd05043	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05630	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05632	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05605	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06630	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd06631	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd06632	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05584	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	708	smart00220	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd06634	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd07877	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	186	cd06658	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd06640	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd06641	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	211	cd06608	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd06642	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd07844	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd06613	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	167	cd07839	NULL
2260	291327489	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06625	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	176	cd07839	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd06625	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	205	cd06638	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	212	cd05100	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	212	cd05099	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	228	cd05053	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	123	smart00750	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	247	cd08217	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	276	cd07840	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd07846	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd07831	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	206	cd07848	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	292	cd07842	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	236	cd07833	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	413	cd05581	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	202	cd06636	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	241	cd05057	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	258	cd05103	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	307	cd05054	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	256	cd05102	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	230	cd06614	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	200	cd07845	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd06618	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	191	cd06644	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	186	cd06611	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd07873	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	201	cd06622	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	176	cd06615	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd07856	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	868	COG0515	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd05587	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	200	cd06610	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	196	cd07837	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	186	cd07862	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd07847	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd07861	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd08229	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	176	cd08219	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05612	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd06621	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	200	cd06605	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd06617	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	239	cd05580	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd08529	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd08228	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd06619	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	199	cd07832	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd07872	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05616	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	205	cd06609	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	235	cd06623	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	194	cd06658	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	186	cd06616	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd05111	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd05110	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd05109	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	199	cd05088	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	221	cd05033	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd05065	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	214	cd05038	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	188	cd05079	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd05066	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05112	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05059	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd05113	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05114	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	226	cd07866	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd05108	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd06646	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd06645	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	186	cd06631	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	198	cd06632	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd06630	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd05584	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	209	cd06652	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd05081	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd06653	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd07871	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd08224	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05630	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05632	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05605	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	223	cd05043	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	192	cd06654	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd06643	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	207	cd07865	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	320	cd05107	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	216	cd06639	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	197	cd07850	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	191	cd07878	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	210	cd07851	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd05064	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd05063	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	202	cd05091	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	205	cd05048	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	202	cd05090	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd06620	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	208	cd05094	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	198	cd05093	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	210	cd05049	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	200	cd05092	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	245	cd05096	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	209	cd05097	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	263	cd05046	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	248	cd05051	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	219	cd05095	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	211	cd05050	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	205	cd05075	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	191	cd05074	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	201	cd05035	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	231	cd07829	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	225	cd07838	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05589	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	828	smart00221	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	186	cd05080	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	565	smart00219	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	328	pfam00069	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	252	cd07830	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	196	cd06612	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	361	pfam07714	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	191	cd06656	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	191	cd06647	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd06607	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	215	cd05101	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	192	cd06624	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	191	cd07880	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	191	cd06655	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	317	cd05055	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	193	cd06659	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	181	cd07844	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd06613	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06642	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06640	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06641	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	229	cd06608	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	199	cd08528	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	194	cd07857	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd07853	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd07859	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd05583	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	197	cd05613	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	265	cd07834	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	244	cd08215	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05615	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	207	cd07854	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd08530	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	219	cd06627	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	214	cd07841	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd06629	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd07836	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	186	cd07863	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd07860	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd08223	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	192	cd06628	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	205	cd05045	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	292	cd06606	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	206	cd06626	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd08225	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd06651	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd08222	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd08218	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	216	cd05122	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd05614	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	318	cd05105	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd08221	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05585	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	176	cd05577	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd05608	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	719	cd05579	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd05047	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd06917	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	247	cd05572	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	661	cd00180	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05115	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	745	cd05123	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	194	cd05089	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd05073	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05070	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05067	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd05068	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd05082	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd05034	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd05083	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd05039	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd05148	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd05072	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	197	cd07864	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd07870	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	201	cd07849	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05071	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	215	cd05056	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	192	cd06637	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	200	cd05036	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	197	cd05062	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	242	cd05032	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05069	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	181	cd05052	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd07858	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	198	cd05061	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	205	cd07852	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	198	cd07843	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	200	cd06635	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd05578	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	192	cd06657	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	300	cd05106	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05603	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05582	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05590	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05619	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05570	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	204	cd07835	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	188	cd05592	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05571	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05617	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd05118	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05116	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	181	cd05060	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05041	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd05087	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd05042	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd05040	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05085	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05084	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	195	cd05044	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05593	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	186	cd08220	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	181	cd05086	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd05058	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05594	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	198	cd05076	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd05078	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	207	cd05037	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	414	cd00192	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd05077	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd05620	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05602	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05591	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05588	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	192	cd06648	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	193	cd07877	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd06634	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	302	cd05104	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	218	cd05098	NULL
2260	291327491	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	753	smart00220	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	265	cd06625	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	273	cd07839	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd05108	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	278	cd05088	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd05109	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	300	cd05033	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd05065	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	327	cd05038	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	281	cd05079	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	264	cd05066	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd05111	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd05110	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	288	cd06616	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	310	cd07851	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	307	cd07850	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	287	cd07878	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	297	cd05098	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	1082	smart00221	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	254_G	cd05589	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	279	cd05080	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	284	cd05075	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	270	cd05074	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	281	cd05035	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	352	cd07829	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268	cd08224	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	262_G	cd05630	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	258	cd05632	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	260	cd05605	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	263	cd07871	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	281	cd05081	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	264	cd06653	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	287	cd06652	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	382	cd05104	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	287	smart00750	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	320	cd07865	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	262	cd06643	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	308	cd05053	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	292	cd05100	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	291	cd05099	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	284	cd06638	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	275	cd07845	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	309	cd06614	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	299	cd05049	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	287	cd05092	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	332	cd05096	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	296	cd05097	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	344	cd05046	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	351	cd05051	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	307	cd05095	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	290	cd05050	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	340	cd05094	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	276	cd05093	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	264	cd05064	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd05063	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	327	cd06620	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	281	cd05091	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	284	cd05048	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	281	cd05090	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	400	cd05107	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	285	cd05578	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	296	cd06639	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	338	cd05103	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	387	cd05054	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	336	cd05102	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	280	cd06636	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	320	cd05057	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	282	cd06658	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	271	cd06648	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268	cd06630	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	255	cd05584	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	265	cd06631	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	831	cd05579	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	259	cd05577	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	254	cd05608	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	267_G	cd08221	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd05047	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	287_G	cd06917	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	252	cd05115	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	245	cd05585	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268_G	cd06655	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	272	cd06624	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268_G	cd06647	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	274	cd06607	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	279	cd07880	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	294	cd05101	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268_G	cd06656	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	276	cd07873	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	291	cd06621	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	339	cd06605	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	284	cd05612	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	1193	COG0515	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	282	cd06619	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	304	cd06615	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	263	cd08229	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	251	cd08219	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	261	cd07862	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd07847	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	256	cd07861	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	272	cd07837	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	339	cd06623	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	259	cd05587	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	282	cd06622	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	256	cd07872	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	254	cd05616	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	290	cd06610	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	293	cd06609	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	269	cd07856	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	270	cd06617	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	387	cd05580	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	260_G	cd08529	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	262	cd08228	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	254_G	cd06642	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	259	cd07844	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	254	cd06640	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	254	cd06641	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	274	cd06657	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	1246	smart00220	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	263	cd06651	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	258	cd08222	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	253	cd08218	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	264_G	cd05614	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	467	cd07834	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	284	cd05045	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	264	cd05583	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	276	cd05613	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	257	cd07836	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	261	cd07863	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	247	cd07860	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	254	cd05615	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	256	cd08223	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	271	cd06628	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	290	cd07853	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	336	cd08215	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd07857	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	313	cd07854	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	276	cd07859	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	270	cd06644	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	265	cd06611	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	283	cd06618	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	398	cd05105	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	380	cd05106	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	322	cd07852	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	273	cd06634	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	289	cd07877	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	437	cd07842	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	267	cd07831	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	278	cd07848	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	398	cd07840	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	327	cd08217	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	397	cd05055	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	271	cd06659	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	273	cd05594	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	265	cd05592	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	247	cd05571	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	255	cd05617	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	253	cd05041	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	273	cd05087	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	272	cd05042	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	270	cd05040	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	250	cd05085	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	251	cd05084	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	274	cd05044	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	250	cd05602	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	262	cd08220	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	259	cd05588	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	260	cd05620	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	251	cd05591	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	272	cd05593	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	253	cd05116	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	260	cd05060	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	278	cd07835	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	265	cd05603	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	315	cd05570	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	264	cd05086	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	264	cd05058	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	252	cd05582	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	249	cd05590	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	245	cd05619	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	281	cd07849	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	271	cd06637	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	279	cd05036	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	276	cd05062	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	325	cd05032	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	273	cd05089	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	295	cd05056	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	260	cd05052	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	259	cd05073	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	258	cd05070	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	284	cd05067	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	264	cd05068	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	254	cd05082	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	271	cd05034	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	252	cd05083	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	265	cd05039	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	294	cd05148	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	259	cd05072	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	278	cd07858	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	258	cd05071	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	272	cd07864	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	255	cd07870	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	281	cd05061	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	291	cd06635	NULL
2260	291327495	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	269_G	cd06654	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd05086	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd05058	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	261	cd05588	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	262	cd05620	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	254	cd05582	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	251	cd05590	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	247	cd05619	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	253	cd05591	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	264	cd08220	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	274	cd05593	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	267	cd05603	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	252	cd05602	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	318	cd05570	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	267	cd05592	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	249	cd05571	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	257	cd05617	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	255	cd05116	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	262	cd05060	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	275	cd05594	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	280	cd07835	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	283	cd05081	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	265	cd07871	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	262_G	cd05630	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	260	cd05632	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	262	cd05605	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd06653	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	270	cd08224	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268_G	cd06647	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268_G	cd06656	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	281	cd07880	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268_G	cd06655	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	276	cd06607	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	296	cd05101	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	399	cd05055	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	269_G	cd06654	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	275	cd07839	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	278	cd07859	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd05614	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	286	cd05045	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	256	cd05615	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	265	cd06651	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	260	cd08222	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	255	cd08218	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	315	cd07854	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd05583	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	278	cd05613	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	292	cd07853	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268	cd07857	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	469	cd07834	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	259	cd07836	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	263	cd07863	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	249	cd07860	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	400	cd05105	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	273	cd06648	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	287	cd05578	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	285	cd06618	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	272	cd06644	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	267	cd06611	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	256	cd06640	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	256	cd06641	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	261	cd07844	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	256	cd06642	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	384	cd05104	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	262	cd05052	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	283	cd07849	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	260	cd05071	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	283	cd05061	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	275	cd05089	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	274	cd07864	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	257	cd07870	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	280	cd07858	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	297	cd05056	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	284	cd06658	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	299	cd05098	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd05064	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268	cd05063	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	342	cd05094	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	278	cd05093	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	329	cd06620	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	282	cd06657	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	382	cd05106	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	340	cd05103	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	389	cd05054	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	338	cd05102	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	322	cd05057	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	289	smart00750	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	322	cd07865	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	264	cd06643	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	286	cd05075	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	272	cd05074	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	283	cd05035	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	354	cd07829	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	256	cd05589	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	281	cd05080	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	284	cd06619	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	308	cd06615	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	389	cd05580	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	262	cd08529	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	264	cd08228	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	258	cd07872	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	256	cd05616	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	284_G	cd05612	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	341	cd06623	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	261	cd05587	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	284	cd06622	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	272_G	cd07837	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	265	cd08229	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	253	cd08219	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	272	cd06617	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	295	cd06609	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	1195	COG0515	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	278	cd07873	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	271	cd07856	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	263	cd07862	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268	cd07847	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	258	cd07861	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	293	cd06621	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	341	cd06605	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	1248	smart00220	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	324	cd07852	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	273	cd06659	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	402	cd05107	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	400	cd07840	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	269	cd07831	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	280	cd07848	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	311	cd06614	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	277	cd07845	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	293	cd06635	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	309	cd07850	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	312	cd07851	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	289	cd07878	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	257	cd05584	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	293	cd05099	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	294	cd05100	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	310	cd05053	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	292	cd07877	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	275	cd06634	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	254	cd05115	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268	cd05047	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	288	cd06917	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	261	cd05577	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	256	cd05608	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	247	cd05585	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	302	cd05033	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268	cd05065	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	329	cd05038	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	283	cd05079	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd05066	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	293	cd06616	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268	cd05111	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268	cd05110	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268	cd05109	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	280	cd05088	NULL
2260	13186236	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268	cd05108	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	196	cd07852	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	203	cd06639	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd06656	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	207	cd05101	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd06647	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd07880	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd06655	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd06624	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd06607	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	210	cd05098	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	191	cd07845	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	222	cd06614	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	294	cd05104	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	292	cd05106	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	220	cd05053	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	204	cd05100	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	192	cd06638	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	204	cd05099	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	202	cd07851	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd07878	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd07850	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	309	cd05055	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	198	cd07865	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd06643	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	229	cd07840	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	216	cd07833	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	405	cd05581	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	283	cd07842	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	239	cd08217	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd07831	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	198	cd07848	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd07846	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	250	cd05103	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	299	cd05054	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	248	cd05102	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd06636	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	233	cd05057	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05594	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd05116	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd05060	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd08220	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd05086	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05058	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	195	cd07835	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	163	cd05593	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05591	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd05118	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd05570	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd05582	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05590	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05619	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd05592	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05571	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05617	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd05041	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd05087	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05042	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	181	cd05040	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	163	cd05085	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05084	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd05044	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05603	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05620	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05602	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05588	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	188	cd05076	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05078	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	193	cd05037	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	399	cd00192	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	176	cd05077	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06651	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd08222	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd08218	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	236	cd08215	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd07836	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd07863	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	168	cd07860	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd07853	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	197	cd05045	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd08223	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd06628	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	198	cd07854	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd07857	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	255	cd07834	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd07859	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	284	cd06606	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	203	cd06626	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd08225	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	176	cd08530	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	211	cd06627	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	205	cd07841	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	181	cd06629	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	191	cd08528	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05615	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd05583	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd05613	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05614	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	208	cd05122	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05578	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	312	cd05107	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd07837	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd06610	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd07862	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd07847	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd07861	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd06617	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	805	COG0515	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	193	cd06622	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	168	cd06615	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd07873	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	222	cd06623	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd07856	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd06619	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd08229	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	168	cd08219	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06621	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd06605	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	229	cd05580	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd08529	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd08228	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd07832	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05587	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	197	cd06609	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd05612	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd07872	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05616	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd06635	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	222	cd07829	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd05080	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	217	cd07838	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05589	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	197	cd05075	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd05074	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	193	cd05035	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	771	smart00221	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	555	smart00219	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	297	pfam00069	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	243	cd07830	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd06612	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	353	pfam07714	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	310	cd05105	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	737	cd05123	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05047	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd08221	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd05115	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	239	cd05572	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	628	cd00180	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	161	cd05585	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	181	cd06917	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	711	cd05579	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	168	cd05577	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	165	cd05608	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd06654	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd06659	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd06620	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	200	cd05094	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd05093	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05064	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05063	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	202	cd05049	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	192	cd05092	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	237	cd05096	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	201	cd05097	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	255	cd05046	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	240	cd05051	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	211	cd05095	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	203	cd05050	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	194	cd05091	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	197	cd05048	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	194	cd05090	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	115	smart00750	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05071	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd05052	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	207	cd05056	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05073	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05070	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05067	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05068	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	167	cd05082	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd05034	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	165	cd05083	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05039	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05148	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05072	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05069	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	188	cd07864	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd07870	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd07858	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	192	cd07849	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd06637	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	192	cd05036	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd05062	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	234	cd05032	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	186	cd05089	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd05061	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd06646	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd06645	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd07843	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	213	cd05033	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05065	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	203	cd05038	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd05079	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05066	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05108	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd06616	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05109	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	217	cd07866	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	191	cd05088	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05112	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05059	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd05113	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05114	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05110	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05111	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd06644	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd06611	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	186	cd06618	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd06657	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd06648	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd08224	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd07871	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05081	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	201	cd06652	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06653	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	215	cd05043	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05630	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05632	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05605	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06630	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd06631	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd06632	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05584	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	708	smart00220	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd06634	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd07877	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	186	cd06658	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd06640	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd06641	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	211	cd06608	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd06642	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd07844	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd06613	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	167	cd07839	NULL
2260	13186251	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06625	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	196	cd07852	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	203	cd06639	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd06656	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	207	cd05101	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd06647	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd07880	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd06655	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd06624	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd06607	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	210	cd05098	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	191	cd07845	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	222	cd06614	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	294	cd05104	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	292	cd05106	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	220	cd05053	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	204	cd05100	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	192	cd06638	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	204	cd05099	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	202	cd07851	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd07878	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd07850	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	309	cd05055	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	198	cd07865	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd06643	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	229	cd07840	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	216	cd07833	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	405	cd05581	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	283	cd07842	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	239	cd08217	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd07831	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	198	cd07848	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd07846	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	250	cd05103	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	299	cd05054	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	248	cd05102	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd06636	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	233	cd05057	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05594	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd05116	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd05060	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd08220	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd05086	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05058	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	195	cd07835	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	163	cd05593	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05591	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd05118	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd05570	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd05582	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05590	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05619	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd05592	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05571	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05617	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd05041	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd05087	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05042	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	181	cd05040	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	163	cd05085	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05084	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd05044	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05603	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05620	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05602	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05588	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	188	cd05076	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05078	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	193	cd05037	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	399	cd00192	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	176	cd05077	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06651	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd08222	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd08218	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	236	cd08215	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd07836	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd07863	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	168	cd07860	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd07853	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	197	cd05045	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd08223	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd06628	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	198	cd07854	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd07857	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	255	cd07834	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd07859	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	284	cd06606	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	203	cd06626	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd08225	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	176	cd08530	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	211	cd06627	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	205	cd07841	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	181	cd06629	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	191	cd08528	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05615	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd05583	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd05613	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05614	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	208	cd05122	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05578	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	312	cd05107	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd07837	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd06610	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd07862	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd07847	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd07861	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd06617	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	805	COG0515	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	193	cd06622	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	168	cd06615	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd07873	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	222	cd06623	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd07856	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd06619	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd08229	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	168	cd08219	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06621	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd06605	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	229	cd05580	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd08529	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd08228	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd07832	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05587	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	197	cd06609	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd05612	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd07872	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05616	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd06635	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	222	cd07829	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd05080	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	217	cd07838	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05589	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	197	cd05075	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd05074	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	193	cd05035	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	771	smart00221	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	555	smart00219	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	297	pfam00069	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	243	cd07830	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd06612	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	353	pfam07714	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	310	cd05105	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	737	cd05123	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05047	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd08221	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd05115	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	239	cd05572	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	628	cd00180	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	161	cd05585	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	181	cd06917	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	711	cd05579	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	168	cd05577	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	165	cd05608	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd06654	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd06659	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd06620	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	200	cd05094	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd05093	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05064	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05063	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	202	cd05049	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	192	cd05092	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	237	cd05096	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	201	cd05097	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	255	cd05046	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	240	cd05051	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	211	cd05095	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	203	cd05050	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	194	cd05091	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	197	cd05048	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	194	cd05090	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	115	smart00750	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05071	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd05052	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	207	cd05056	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05073	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05070	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05067	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05068	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	167	cd05082	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd05034	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	165	cd05083	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05039	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05148	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05072	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05069	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	188	cd07864	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd07870	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd07858	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	192	cd07849	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd06637	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	192	cd05036	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd05062	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	234	cd05032	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	186	cd05089	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd05061	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd06646	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd06645	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd07843	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	213	cd05033	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05065	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	203	cd05038	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd05079	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05066	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05108	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd06616	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05109	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	217	cd07866	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	191	cd05088	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05112	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05059	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd05113	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05114	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05110	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05111	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd06644	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd06611	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	186	cd06618	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd06657	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	184	cd06648	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd08224	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd07871	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd05081	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	201	cd06652	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06653	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	215	cd05043	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05630	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05632	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05605	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06630	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd06631	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	190	cd06632	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05584	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	708	smart00220	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	179	cd06634	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	185	cd07877	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	186	cd06658	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd06640	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd06641	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	211	cd06608	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd06642	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd07844	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd06613	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	167	cd07839	NULL
2260	291327493	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd06625	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	138	cd05578	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	141	cd06630	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	156	cd06632	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	141	cd05584	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	141	cd06631	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd06639	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	156	cd07843	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	146	cd07852	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	162	cd06635	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	146	cd05108	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	168	cd07866	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	146	cd05110	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	137	cd05112	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	139	cd05059	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	138	cd05113	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	137	cd05114	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	146	cd05111	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	161	cd05088	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	175	cd05033	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	143	cd05065	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05038	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	146	cd05079	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	143	cd05066	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	152	cd06616	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	146	cd05109	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	153	cd06654	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	143	cd06625	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	136	cd07839	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	277	cd05105	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	138	cd06642	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	138	cd06640	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	138	cd06641	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	140	cd06613	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	141	cd07844	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	180	cd06608	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	155	cd06658	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	146	cd07857	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	142	cd05583	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	155	cd05613	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	140	cd07836	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	148	cd07863	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	137	cd07860	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd07854	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	140	cd07859	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	183	cd07834	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	227	cd06606	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	140	cd06626	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	139	cd08225	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	197	cd08215	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	139	cd08223	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	145	cd06628	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	146	cd08530	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	147	cd06627	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	154	cd07841	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	172	cd05122	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	141	cd07853	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	142	cd05614	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	160	cd08528	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	147	cd06629	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	143	cd06651	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	143	cd08222	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	138	cd08218	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05045	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	138	cd05615	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	133	cd05579	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	149	cd05047	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	137	cd05577	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	134	cd05608	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	205	cd05572	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	437	cd00180	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	653	cd05123	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	132	cd05115	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	148	cd06917	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	139	cd08221	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	130	cd05585	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd07835	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	133	cd05603	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	133	cd05588	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	135	cd05570	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	133	cd05594	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	133	cd05041	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	142	cd05087	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	140	cd05042	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	145	cd05040	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	131	cd05085	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	131	cd05084	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	147	cd05044	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	132	cd05116	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	139	cd05060	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	133	cd05591	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	158	cd05076	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	141	cd05078	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	156	cd05037	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	357	cd00192	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	142	cd05077	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	148	cd05592	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	133	cd05571	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	133	cd05617	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	148	cd05620	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	132	cd05593	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	148	cd08220	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	133	cd05602	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	137	cd05086	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	142	cd05058	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	146	cd05118	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	135	cd05582	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	133	cd05590	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	133	cd05619	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	154	cd06659	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	241	cd07842	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	138	cd07846	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	144	cd07831	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	166	cd07848	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd07840	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd07833	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	253	cd05581	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	208	cd08217	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	143	cd06646	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	143	cd06645	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	156	cd07837	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	147	cd07862	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	143	cd07847	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	139	cd07861	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	157	cd07832	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	186	cd06623	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	141	cd07873	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	147	cd06621	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	156	cd06605	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	141	cd07872	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	138	cd05616	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	145	cd07856	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	142	cd06617	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	138	cd05612	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	149	cd06610	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	143	cd08229	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	137	cd08219	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	161	cd06609	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	153	cd06622	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	139	cd06615	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	594	COG0515	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	191	cd05580	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	144	cd08529	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	143	cd08228	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	153	cd06619	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	143	cd05587	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	499	smart00220	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	169	cd05049	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	159	cd05092	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	204	cd05096	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	168	cd05097	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	223	cd05046	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	202	cd05051	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	178	cd05095	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	170	cd05050	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	144	cd05064	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	145	cd05063	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	143	cd06620	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	160	cd05094	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	157	cd05093	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	161	cd05091	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05048	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	161	cd05090	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	259	cd05106	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	157	cd07877	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	152	cd06634	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	161	cd07865	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	140	cd06643	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	144	cd08224	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	140	cd07871	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	139	cd05630	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	139	cd05632	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	139	cd05605	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	145	cd05081	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	182	cd05043	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	143	cd06653	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	167	cd06652	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	279	cd05107	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	217	cd05103	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	265	cd05054	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	215	cd05102	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	199	cd05057	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	158	cd06636	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd05053	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05100	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd05099	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	161	cd06638	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	177	cd05098	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	146	cd07858	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	139	cd05071	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	148	cd06637	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	158	cd05036	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	156	cd05062	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	201	cd05032	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	155	cd07864	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	140	cd07870	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	147	cd07849	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	157	cd05061	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	156	cd05089	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	173	cd05056	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	141	cd05052	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	139	cd05069	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	140	cd05073	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	139	cd05070	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	139	cd05067	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	142	cd05068	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	139	cd05082	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	144	cd05034	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	143	cd05039	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	137	cd05083	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	142	cd05148	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	140	cd05072	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	67	smart00750	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	157	cd07850	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	155	cd07878	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	171	cd07851	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	276	cd05055	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	261	cd05104	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	158	cd07845	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	189	cd06614	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	153	cd06648	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	592	smart00221	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	144	cd05080	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd07838	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	164	cd05075	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	150	cd05074	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	160	cd05035	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	442	smart00219	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	229	pfam00069	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	213	cd07830	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	152	cd06612	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	311	pfam07714	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	138	cd05589	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	187	cd07829	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	153	cd06657	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	147	cd06644	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	156	cd06618	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	142	cd06611	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	152	cd06647	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	151	cd06624	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	152	cd06607	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	174	cd05101	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	155	cd07880	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	152	cd06656	NULL
2260	291327497	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	152	cd06655	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	265	cd06625	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	273	cd07839	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd05108	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	278	cd05088	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd05109	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	300	cd05033	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd05065	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	327	cd05038	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	281	cd05079	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	264	cd05066	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd05111	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd05110	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	288	cd06616	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	310	cd07851	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	307	cd07850	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	287	cd07878	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	297	cd05098	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	1082	smart00221	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	254_G	cd05589	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	279	cd05080	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	284	cd05075	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	270	cd05074	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	281	cd05035	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	352	cd07829	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268	cd08224	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	262_G	cd05630	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	258	cd05632	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	260	cd05605	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	263	cd07871	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	281	cd05081	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	264	cd06653	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	287	cd06652	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	382	cd05104	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	287	smart00750	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	320	cd07865	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	262	cd06643	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	308	cd05053	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	292	cd05100	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	291	cd05099	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	284	cd06638	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	275	cd07845	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	309	cd06614	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	299	cd05049	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	287	cd05092	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	332	cd05096	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	296	cd05097	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	344	cd05046	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	351	cd05051	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	307	cd05095	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	290	cd05050	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	340	cd05094	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	276	cd05093	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	264	cd05064	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd05063	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	327	cd06620	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	281	cd05091	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	284	cd05048	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	281	cd05090	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	400	cd05107	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	285	cd05578	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	296	cd06639	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	338	cd05103	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	387	cd05054	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	336	cd05102	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	280	cd06636	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	320	cd05057	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	282	cd06658	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	271	cd06648	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268	cd06630	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	255	cd05584	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	265	cd06631	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	831	cd05579	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	259	cd05577	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	254	cd05608	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	267_G	cd08221	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd05047	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	287_G	cd06917	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	252	cd05115	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	245	cd05585	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268_G	cd06655	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	272	cd06624	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268_G	cd06647	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	274	cd06607	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	279	cd07880	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	294	cd05101	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	268_G	cd06656	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	276	cd07873	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	291	cd06621	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	339	cd06605	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	284	cd05612	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	1193	COG0515	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	282	cd06619	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	304	cd06615	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	263	cd08229	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	251	cd08219	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	261	cd07862	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd07847	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	256	cd07861	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	272	cd07837	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	339	cd06623	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	259	cd05587	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	282	cd06622	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	256	cd07872	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	254	cd05616	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	290	cd06610	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	293	cd06609	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	269	cd07856	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	270	cd06617	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	387	cd05580	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	260_G	cd08529	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	262	cd08228	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	254_G	cd06642	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	259	cd07844	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	254	cd06640	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	254	cd06641	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	274	cd06657	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	1246	smart00220	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	263	cd06651	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	258	cd08222	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	253	cd08218	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	264_G	cd05614	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	467	cd07834	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	284	cd05045	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	264	cd05583	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	276	cd05613	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	257	cd07836	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	261	cd07863	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	247	cd07860	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	254	cd05615	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	256	cd08223	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	271	cd06628	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	290	cd07853	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	336	cd08215	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	266	cd07857	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	313	cd07854	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	276	cd07859	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	270	cd06644	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	265	cd06611	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	283	cd06618	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	398	cd05105	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	380	cd05106	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	322	cd07852	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	273	cd06634	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	289	cd07877	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	437	cd07842	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	267	cd07831	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	278	cd07848	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	398	cd07840	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	327	cd08217	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	397	cd05055	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	271	cd06659	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	273	cd05594	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	265	cd05592	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	247	cd05571	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	255	cd05617	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	253	cd05041	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	273	cd05087	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	272	cd05042	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	270	cd05040	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	250	cd05085	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	251	cd05084	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	274	cd05044	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	250	cd05602	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	262	cd08220	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	259	cd05588	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	260	cd05620	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	251	cd05591	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	272	cd05593	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	253	cd05116	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	260	cd05060	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	278	cd07835	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	265	cd05603	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	315	cd05570	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	264	cd05086	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	264	cd05058	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	252	cd05582	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	249	cd05590	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	245	cd05619	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	281	cd07849	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	271	cd06637	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	279	cd05036	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	276	cd05062	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	325	cd05032	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	273	cd05089	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	295	cd05056	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	260	cd05052	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	259	cd05073	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	258	cd05070	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	284	cd05067	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	264	cd05068	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	254	cd05082	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	271	cd05034	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	252	cd05083	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	265	cd05039	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	294	cd05148	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	259	cd05072	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	278	cd07858	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	258	cd05071	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	272	cd07864	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	255	cd07870	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	281	cd05061	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	291	cd06635	NULL
2260	13186234	Disease	p.Trp666Arg	136350.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH CLEFT PALATE	OMIM	269_G	cd06654	NULL
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	130	cd06636	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	170	cd05057	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	189	cd05103	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	237	cd05054	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	187	cd05102	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	130	cd07845	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	159	cd06614	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd07878	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	143	cd07851	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd07850	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	144	cd06639	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd07852	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	26	smart00750	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd06648	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	251	cd05107	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	377	smart00220	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd08221	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	109	cd05577	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd05608	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	105	cd05579	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	104	cd05115	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	624	cd05123	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd05047	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	176	cd05572	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	339	cd00180	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	104	cd05585	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd06917	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd06634	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd07877	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd05089	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd05061	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05073	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05070	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05067	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05068	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05082	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05034	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	109	cd05083	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05039	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05148	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05072	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd06637	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd05036	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd05062	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	173	cd05032	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd07858	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	145	cd05056	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05052	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd07849	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd07864	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd07870	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05071	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05069	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	133	cd06638	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	143	cd05099	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	159	cd05053	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	143	cd05100	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06659	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd06658	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd07880	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	146	cd05101	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122	cd06624	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd06656	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd06655	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd06607	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd06647	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd08223	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd06628	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	142	cd05122	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd07836	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd07863	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	109	cd07860	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	110	cd05615	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	189	cd06606	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd06626	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	110	cd08225	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	136	cd05045	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	152	cd07834	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd07857	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd07859	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	147	cd08215	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05614	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd06651	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd08222	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	110	cd08218	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd07854	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd08530	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd06627	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd07841	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd07853	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd06629	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05583	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd05613	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	131	cd08528	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd06646	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd06645	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	134	cd06635	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd06657	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd06625	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	108	cd07839	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	139	cd06652	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd08224	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd06653	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	151	cd05043	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd07871	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05630	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05632	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05605	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd05081	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	133	cd07865	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd06643	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd06611	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd06644	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd06618	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd06631	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05584	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd06630	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd06632	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd07844	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	110	cd06640	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	110	cd06641	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd06613	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	110	cd06642	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	152	cd06608	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd06654	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	249	cd05105	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	140	cd07866	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd05110	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd05111	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	109	cd05112	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05059	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	110	cd05113	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	109	cd05114	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	133	cd05088	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	142	cd05033	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05065	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd05038	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd05079	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05066	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd05108	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd06616	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd05109	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	110	cd07831	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	138	cd07848	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	140	cd08217	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	131	cd07833	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	225	cd05581	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	213	cd07842	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	110	cd07846	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	158	cd07840	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	144	cd06623	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	132	cd06609	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd06621	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06605	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	110	cd06615	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd07856	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd07862	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	109	cd07847	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd07861	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd08229	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	109	cd08219	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd07872	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	110	cd05616	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05587	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd07873	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd06610	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	162	cd05580	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd08529	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd08228	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd06617	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd07832	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd06622	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd06619	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd07837	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	479	COG0515	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	110	cd05612	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd07843	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	233	cd05104	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	133	cd05091	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	136	cd05048	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	133	cd05090	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	136	cd05049	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	131	cd05092	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	165	cd05096	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	140	cd05097	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	195	cd05046	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	170	cd05051	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	150	cd05095	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	142	cd05050	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd06620	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05064	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd05063	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	132	cd05094	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd05093	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	248	cd05055	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	105	cd05041	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05087	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05042	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05040	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	103	cd05085	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	103	cd05084	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd05044	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd05076	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05078	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd05037	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	316	cd00192	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05077	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	105	cd05602	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd07835	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05588	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	104	cd05116	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05060	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05582	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	105	cd05590	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	105	cd05619	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05570	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd05620	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	109	cd05086	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05058	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	104	cd05593	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	105	cd05591	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	105	cd05603	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd08220	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd05592	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	104	cd05571	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	105	cd05617	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd05118	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107_G	cd05594	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	231	cd05106	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	149	cd05098	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	110	cd05578	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd07838	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	470	smart00221	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05080	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	393	smart00219	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	189	pfam00069	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	161	cd07830	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd06612	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	263	pfam07714	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	149	cd07829	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	136	cd05075	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122	cd05074	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	132	cd05035	105990522,NP_075598
2260	120046	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	110	cd05589	105990522,NP_075598
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd07852	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	146	cd06639	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06656	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	148	cd05101	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06647	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd07880	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06655	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd06624	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06607	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	151	cd05098	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	132	cd07845	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	161	cd06614	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	235	cd05104	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	233	cd05106	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	161	cd05053	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	145	cd05100	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd06638	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	145	cd05099	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	145	cd07851	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd07878	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	131	cd07850	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	250	cd05055	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd07865	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd06643	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	160	cd07840	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	133	cd07833	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	227	cd05581	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	215	cd07842	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	142	cd08217	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd07831	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	140	cd07848	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd07846	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191	cd05103	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	239	cd05054	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	189	cd05102	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	132	cd06636	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	172	cd05057	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107_G	cd05594	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd05116	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05060	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd08220	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05086	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05058	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd07835	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd05593	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05591	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05118	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	109	cd05570	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	109	cd05582	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05590	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05619	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05592	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd05571	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05617	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05041	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05087	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05042	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05040	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	105	cd05085	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	105	cd05084	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd05044	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05603	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05620	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05602	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	108_G	cd05588	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd05076	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05078	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	130	cd05037	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	318	cd00192	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05077	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd06651	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd08222	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd08218	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	149	cd08215	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd07836	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122	cd07863	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd07860	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd07853	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	138	cd05045	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd08223	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd06628	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd07854	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd07857	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	154	cd07834	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd07859	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191	cd06606	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd06626	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd08225	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd08530	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd06627	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd07841	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd06629	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	133	cd08528	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05615	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117_G	cd05583	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd05613	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05614	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	144	cd05122	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05578	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	253	cd05107	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd07837	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd06610	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd07862	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd07847	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd07861	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd06617	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	481	COG0515	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd06622	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd06615	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd07873	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	146	cd06623	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd07856	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd06619	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd08229	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd08219	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd06621	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd06605	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	164	cd05580	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd08529	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd08228	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd07832	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd05587	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	134	cd06609	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05612	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd07872	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05616	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	136	cd06635	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	151	cd07829	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd05080	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd07838	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05589	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	138	cd05075	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd05074	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	134	cd05035	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	472	smart00221	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	395	smart00219	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191	pfam00069	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	163	cd07830	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06612	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	265	pfam07714	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	251	cd05105	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	626	cd05123	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd05047	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd08221	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd05115	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	178	cd05572	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	341	cd00180	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	105_G	cd05585	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122_G	cd06917	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05579	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05577	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	108	cd05608	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd06654	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd06659	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd06620	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	134	cd05094	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	131	cd05093	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd05064	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd05063	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	138	cd05049	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	133	cd05092	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	167	cd05096	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	142	cd05097	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	197	cd05046	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	172	cd05051	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	152	cd05095	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	144	cd05050	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd05091	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	138	cd05048	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd05090	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	28	smart00750	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05071	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05052	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	147	cd05056	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05073	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05070	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05067	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05068	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05082	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05034	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05083	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd05039	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05148	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05072	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05069	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd07864	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd07870	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd07858	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd07849	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122	cd06637	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd05036	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	130	cd05062	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	175	cd05032	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	130	cd05089	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	131	cd05061	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd06646	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd06645	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd07843	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	144	cd05033	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd05065	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	139	cd05038	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05079	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd05066	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05108	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd06616	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05109	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	142	cd07866	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd05088	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05112	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05059	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05113	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05114	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05110	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05111	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd06644	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd06611	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd06618	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd06657	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd06648	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd08224	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd07871	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd05081	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	141	cd06652	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd06653	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	153	cd05043	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05630	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05632	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05605	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd06630	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd06631	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	130	cd06632	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05584	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	379	smart00220	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06634	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	131	cd07877	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd06658	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd06640	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd06641	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	154	cd06608	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd06642	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd07844	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd06613	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	110	cd07839	NULL
2260	291327489	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd06625	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd07839	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd06625	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	143	cd06638	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	153	cd05100	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	153	cd05099	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	169	cd05053	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	36	smart00750	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	151	cd08217	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	168	cd07840	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd07846	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd07831	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	148	cd07848	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	223	cd07842	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	141	cd07833	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	235	cd05581	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	140	cd06636	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	181	cd05057	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199	cd05103	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	247	cd05054	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	197	cd05102	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	171	cd06614	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	140	cd07845	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd06618	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd06644	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd06611	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd07873	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	134	cd06622	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd06615	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd07856	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	519	COG0515	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd05587	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	131	cd06610	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd07837	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd07862	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd07847	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd07861	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd08229	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd08219	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05612	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd06621	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd06605	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd06617	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	173	cd05580	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd08529	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd08228	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd06619	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	134	cd07832	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd07872	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05616	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	142	cd06609	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	167	cd06623	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd06658	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	133	cd06616	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd05111	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd05110	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd05109	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	143	cd05088	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	157	cd05033	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd05065	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	147	cd05038	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd05079	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd05066	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd05112	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd05059	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05113	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd05114	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	150	cd07866	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd05108	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd06646	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd06645	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd06631	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	138	cd06632	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122	cd06630	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd05584	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	149	cd06652	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd05081	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd06653	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122	cd07871	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd08224	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd05630	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd05632	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd05605	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	161	cd05043	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd06654	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122	cd06643	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	143	cd07865	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	261	cd05107	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	154	cd06639	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	139	cd07850	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd07878	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	153	cd07851	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd05064	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd05063	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	143	cd05091	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	146	cd05048	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	143	cd05090	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd06620	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	142	cd05094	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	139	cd05093	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	146	cd05049	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	141	cd05092	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	175	cd05096	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	150	cd05097	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd05046	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	180	cd05051	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	160	cd05095	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	152	cd05050	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	146	cd05075	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	132	cd05074	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	142	cd05035	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	159	cd07829	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	145	cd07838	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05589	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	485	smart00221	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd05080	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	403	smart00219	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	200	pfam00069	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	171	cd07830	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	134	cd06612	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	273	pfam07714	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	134	cd06656	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	134	cd06647	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	134	cd06607	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	156	cd05101	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	132	cd06624	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd07880	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	134	cd06655	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	258	cd05055	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	136	cd06659	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd07844	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122	cd06613	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd06642	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd06640	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd06641	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	162	cd06608	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	142	cd08528	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd07857	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd07853	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122	cd07859	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd05583	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd05613	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	162	cd07834	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	157	cd08215	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05615	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	145	cd07854	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd08530	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06627	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	136	cd07841	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd06629	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122	cd07836	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	130	cd07863	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd07860	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd08223	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd06628	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	146	cd05045	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	200	cd06606	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd06626	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd08225	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd06651	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd08222	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd08218	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	153	cd05122	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd05614	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	259	cd05105	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd08221	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05585	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd05577	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05608	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05579	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	131	cd05047	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd06917	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	187	cd05572	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	349	cd00180	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05115	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	635	cd05123	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	138	cd05089	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122	cd05073	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd05070	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd05067	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd05068	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd05082	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122	cd05034	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd05083	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd05039	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd05148	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122	cd05072	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd07864	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122	cd07870	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd07849	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd05071	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	155	cd05056	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	130	cd06637	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd05036	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	138	cd05062	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	183	cd05032	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd05069	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd05052	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd07858	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	139	cd05061	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd07852	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd07843	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	144	cd06635	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05578	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd06657	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	241	cd05106	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05603	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd05582	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05590	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05619	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd05570	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	145	cd07835	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	130	cd05592	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05571	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05617	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd05118	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05116	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd05060	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05041	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd05087	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122	cd05042	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd05040	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05085	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05084	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd05044	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05593	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd08220	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd05086	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd05058	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05594	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	136	cd05076	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd05078	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	138	cd05037	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	328	cd00192	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd05077	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	130	cd05620	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05602	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05591	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05588	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd06648	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	139	cd07877	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	134	cd06634	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	243	cd05104	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	159	cd05098	NULL
2260	291327491	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	392	smart00220	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	206	cd06625	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196	cd07839	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05108	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	219	cd05088	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05109	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	241	cd05033	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05065	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	234	cd05038	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	208	cd05079	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd05066	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05111	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05110	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	197	cd05112	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199	cd05059	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	198	cd05113	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	197	cd05114	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	213_G	cd06616	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	250	cd07866	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	232	cd07851	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	216	cd07850	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211_G	cd07878	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	238	cd05098	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	862	smart00221	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196	cd05589	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	206	cd05080	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	225	cd05075	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211	cd05074	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	221	cd05035	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	251	cd07829	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	245	cd07838	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	586	smart00219	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	349	pfam00069	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	272	cd07830	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	215_G	cd06612	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	393	pfam07714	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	203	cd08224	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196_G	cd05630	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196_G	cd05632	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196_G	cd05605	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199_G	cd07871	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05081	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd06653	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	229	cd06652	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	243	cd05043	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	322	cd05104	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	185	smart00750	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	246	cd07865	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	204	cd06643	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	248	cd05053	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	232	cd05100	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	232	cd05099	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	224	cd06638	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	219_G	cd07845	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	249_G	cd06614	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	230	cd05049	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	220	cd05092	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	265	cd05096	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	229	cd05097	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	283	cd05046	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	268	cd05051	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	239	cd05095	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	231	cd05050	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	228	cd05094	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	218	cd05093	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd05064	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05063	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	201	cd06620	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	222	cd05091	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	225	cd05048	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	222	cd05090	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	340	cd05107	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	206_G	cd05578	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	235	cd06639	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	278	cd05103	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	327	cd05054	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	276	cd05102	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	221	cd06636	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	261	cd05057	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	213_G	cd06658	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211_G	cd06648	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	204_G	cd06630	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199_G	cd05584	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	221_G	cd06632	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205_G	cd06631	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	739_G	cd05579	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196_G	cd05577	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	193	cd05608	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	807_G	cd05123	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	200	cd08221	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	266_G	cd05572	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	681	cd00180	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05047	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	209_G	cd06917	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	194	cd05115	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	188_G	cd05585	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd06646	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd06645	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	210_G	cd06655	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211_G	cd06624	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	210_G	cd06647	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	210	cd06607	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211_G	cd07880	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	235	cd05101	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	210_G	cd06656	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	200_G	cd07873	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211	cd06621	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	219	cd06605	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	193	cd05612	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	929	COG0515	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	209	cd06619	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	195_G	cd06615	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202	cd08229	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196	cd08219	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	206	cd07862	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	203_G	cd07847	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199	cd07861	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	215_G	cd07837	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	254	cd06623	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	201_G	cd05587	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	220	cd06622	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	200_G	cd07872	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196_G	cd05616	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	219_G	cd06610	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	226_G	cd06609	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	217	cd07832	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	201_G	cd07856	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	204	cd06617	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	258	cd05580	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202	cd08529	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202	cd08228	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196	cd06642	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	200_G	cd07844	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196	cd06640	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196	cd06641	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd06613	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	244	cd06608	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	239	cd07843	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211_G	cd06657	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	790	smart00220	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211_G	cd06629	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd06651	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202	cd08222	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	197	cd08218	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	342	cd06606	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	242_G	cd06626	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	198	cd08225	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202_G	cd05614	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	285	cd07834	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	225	cd05045	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	204_G	cd05583	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	216_G	cd05613	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199_G	cd07836	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	206	cd07863	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	197	cd07860	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196_G	cd05615	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	198	cd08223	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211_G	cd06628	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd07853	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	204	cd08530	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	240_G	cd06627	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	254	cd07841	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	266	cd08215	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	219	cd08528	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	212	cd07857	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	240_G	cd05122	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	226_G	cd07854	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	208_G	cd07859	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211	cd06644	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd06611	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	218_G	cd06618	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	338	cd05105	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	320	cd05106	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	223	cd07852	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	210	cd06634	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	213_G	cd07877	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	344	cd07842	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	276	cd07833	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	446_G	cd05581	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	203	cd07831	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	225	cd07848	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	198_G	cd07846	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	295_G	cd07840	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	269	cd08217	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	337	cd05055	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	212_G	cd06659	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191_G	cd05594	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05592	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191_G	cd05571	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191_G	cd05617	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	194	cd05041	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	210	cd05087	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	209	cd05042	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	209	cd05040	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191	cd05085	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	192	cd05084	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	215	cd05044	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	209	cd05118	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191	cd05602	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	206	cd08220	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191_G	cd05588	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	206	cd05620	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191_G	cd05591	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	190_G	cd05593	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	194	cd05116	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	201	cd05060	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	224	cd07835	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191	cd05603	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	218	cd05076	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202_G	cd05078	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	227	cd05037	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	434	cd00192	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd05077	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	193	cd05570	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd05086	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd05058	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	193_G	cd05582	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191_G	cd05590	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191	cd05619	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	220_G	cd07849	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211	cd06637	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	220	cd05036	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	217	cd05062	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	262	cd05032	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	214	cd05089	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	235	cd05056	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	201	cd05052	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199	cd05069	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	200	cd05073	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199	cd05070	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199	cd05067	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd05068	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	195	cd05082	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	210	cd05034	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	193	cd05083	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202	cd05039	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202	cd05148	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	200	cd05072	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	208	cd07858	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199	cd05071	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	217	cd07864	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199_G	cd07870	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	218	cd05061	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	220	cd06635	NULL
2260	291327495	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211_G	cd06654	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	230	cd05118	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05086	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05058	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	193	cd05588	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	208	cd05620	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196	cd05041	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	212	cd05087	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211	cd05042	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211	cd05040	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	193	cd05085	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	194	cd05084	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	217	cd05044	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	195	cd05582	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	193	cd05590	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	193	cd05619	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	193	cd05591	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	208	cd08220	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	192	cd05593	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	193	cd05603	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	193	cd05602	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	195	cd05570	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	209	cd05592	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	193	cd05571	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	193	cd05617	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196	cd05116	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	203	cd05060	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	220	cd05076	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	203	cd05078	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	231	cd05037	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	439	cd00192	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05077	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	193	cd05594	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	226	cd07835	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	223	cd05081	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	201	cd07871	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	198	cd05630	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	198	cd05632	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	198	cd05605	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd06653	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	231	cd06652	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	245	cd05043	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	204	cd08224	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	212	cd06647	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	212	cd06656	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	213	cd07880	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	212	cd06655	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	212	cd06607	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	213	cd06624	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	237	cd05101	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	339	cd05055	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	213	cd06654	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	198	cd07839	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	208	cd06625	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd08530	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	241	cd06627	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	256	cd07841	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	210	cd07859	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	204	cd05614	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	200	cd08223	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	213	cd06628	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	227	cd05045	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	198	cd05615	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	344	cd06606	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	244	cd06626	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199	cd08225	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd06651	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	204	cd08222	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199	cd08218	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	228	cd07854	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	221	cd08528	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	206	cd05583	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	218	cd05613	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd07853	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	214	cd07857	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	242	cd05122	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	303	cd07834	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	213	cd06629	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	267	cd08215	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	201	cd07836	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	208	cd07863	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	198	cd07860	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	340	cd05105	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	213	cd06648	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	208	cd05578	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	220	cd06618	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	213	cd06644	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd06611	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	237	cd06639	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd06613	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	250	cd06608	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	198	cd06640	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	198	cd06641	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202	cd07844	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	198	cd06642	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	324	cd05104	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	203	cd05052	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	221	cd07849	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	201	cd05071	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	213	cd06637	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	222	cd05036	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	219	cd05062	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	264	cd05032	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	220	cd05061	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202	cd05073	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	201	cd05070	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	201	cd05067	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05068	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	197	cd05082	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	212	cd05034	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	195	cd05083	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	204	cd05039	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	204	cd05148	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202	cd05072	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	216	cd05089	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	217_G	cd07864	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	200	cd07870	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	210	cd07858	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	201	cd05069	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	237	cd05056	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	215	cd06658	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	240	cd05098	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05064	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	209	cd05063	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	230	cd05094	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	220	cd05093	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	203	cd06620	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	224	cd05091	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	227	cd05048	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	224	cd05090	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	232	cd05049	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	222	cd05092	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	267	cd05096	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	232	cd05097	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	286	cd05046	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	271	cd05051	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	242	cd05095	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	233	cd05050	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	213	cd06657	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd06646	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd06645	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	322	cd05106	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	241	cd07843	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	280	cd05103	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	329	cd05054	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	278	cd05102	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	223	cd06636	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	263	cd05057	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	187	smart00750	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	248	cd07865	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	206	cd06643	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	253	cd07838	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	227	cd05075	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	213	cd05074	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	223	cd05035	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	253	cd07829	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	589	smart00219	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	354	pfam00069	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	293	cd07830	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	217	cd06612	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	395	pfam07714	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	198	cd05589	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	864	smart00221	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	208	cd05080	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211	cd06619	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	197	cd06615	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	260	cd05580	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	204	cd08529	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	203	cd08228	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202	cd07872	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	198	cd05616	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	195	cd05612	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	256	cd06623	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	203	cd05587	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	219	cd07832	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	222	cd06622	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	217	cd07837	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	203	cd08229	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	197	cd08219	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205_G	cd06617	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	228	cd06609	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	931	COG0515	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202	cd07873	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	221	cd06610	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202	cd07856	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	208	cd07862	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd07847	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	201	cd07861	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	213	cd06621	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	221	cd06605	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	792	smart00220	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	225	cd07852	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	214	cd06659	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	342	cd05107	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199	cd07846	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	278	cd07833	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	448	cd05581	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	270	cd08217	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	297	cd07840	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	203_G	cd07831	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	227	cd07848	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	346	cd07842	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	251	cd06614	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	219_G	cd07845	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	222	cd06635	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	218	cd07850	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	238	cd07851	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	213	cd07878	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	223	cd06632	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd06631	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	201	cd05584	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	206	cd06630	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	234	cd05099	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	226	cd06638	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	235	cd05100	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	251	cd05053	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	215	cd07877	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	212	cd06634	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196	cd05115	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	741	cd05579	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	209	cd05047	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211	cd06917	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	198	cd05577	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	195	cd05608	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202	cd08221	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	190	cd05585	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	268	cd05572	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	683	cd00180	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	809	cd05123	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	252	cd07866	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	243	cd05033	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	209	cd05065	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	250	cd05038	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	210	cd05079	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05066	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	215	cd06616	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	209	cd05111	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	209	cd05110	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199	cd05112	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	201	cd05059	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	200	cd05113	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199	cd05114	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	209	cd05109	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	221	cd05088	NULL
2260	13186236	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	209	cd05108	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd07852	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	146	cd06639	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06656	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	148	cd05101	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06647	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd07880	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06655	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd06624	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06607	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	151	cd05098	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	132	cd07845	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	161	cd06614	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	235	cd05104	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	233	cd05106	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	161	cd05053	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	145	cd05100	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd06638	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	145	cd05099	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	145	cd07851	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd07878	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	131	cd07850	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	250	cd05055	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd07865	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd06643	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	160	cd07840	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	133	cd07833	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	227	cd05581	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	215	cd07842	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	142	cd08217	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd07831	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	140	cd07848	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd07846	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191	cd05103	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	239	cd05054	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	189	cd05102	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	132	cd06636	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	172	cd05057	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107_G	cd05594	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd05116	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05060	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd08220	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05086	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05058	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd07835	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd05593	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05591	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05118	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	109	cd05570	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	109	cd05582	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05590	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05619	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05592	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd05571	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05617	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05041	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05087	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05042	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05040	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	105	cd05085	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	105	cd05084	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd05044	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05603	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05620	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05602	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	108_G	cd05588	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd05076	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05078	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	130	cd05037	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	318	cd00192	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05077	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd06651	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd08222	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd08218	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	149	cd08215	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd07836	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122	cd07863	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd07860	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd07853	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	138	cd05045	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd08223	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd06628	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd07854	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd07857	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	154	cd07834	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd07859	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191	cd06606	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd06626	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd08225	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd08530	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd06627	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd07841	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd06629	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	133	cd08528	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05615	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117_G	cd05583	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd05613	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05614	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	144	cd05122	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05578	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	253	cd05107	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd07837	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd06610	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd07862	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd07847	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd07861	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd06617	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	481	COG0515	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd06622	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd06615	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd07873	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	146	cd06623	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd07856	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd06619	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd08229	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd08219	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd06621	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd06605	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	164	cd05580	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd08529	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd08228	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd07832	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd05587	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	134	cd06609	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05612	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd07872	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05616	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	136	cd06635	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	151	cd07829	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd05080	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd07838	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05589	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	138	cd05075	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd05074	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	134	cd05035	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	472	smart00221	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	395	smart00219	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191	pfam00069	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	163	cd07830	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06612	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	265	pfam07714	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	251	cd05105	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	626	cd05123	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd05047	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd08221	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd05115	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	178	cd05572	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	341	cd00180	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	105_G	cd05585	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122_G	cd06917	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05579	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05577	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	108	cd05608	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd06654	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd06659	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd06620	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	134	cd05094	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	131	cd05093	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd05064	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd05063	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	138	cd05049	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	133	cd05092	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	167	cd05096	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	142	cd05097	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	197	cd05046	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	172	cd05051	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	152	cd05095	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	144	cd05050	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd05091	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	138	cd05048	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd05090	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	28	smart00750	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05071	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05052	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	147	cd05056	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05073	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05070	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05067	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05068	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05082	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05034	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05083	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd05039	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05148	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05072	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05069	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd07864	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd07870	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd07858	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd07849	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122	cd06637	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd05036	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	130	cd05062	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	175	cd05032	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	130	cd05089	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	131	cd05061	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd06646	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd06645	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd07843	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	144	cd05033	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd05065	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	139	cd05038	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05079	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd05066	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05108	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd06616	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05109	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	142	cd07866	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd05088	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05112	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05059	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05113	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05114	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05110	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05111	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd06644	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd06611	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd06618	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd06657	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd06648	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd08224	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd07871	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd05081	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	141	cd06652	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd06653	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	153	cd05043	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05630	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05632	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05605	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd06630	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd06631	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	130	cd06632	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05584	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	379	smart00220	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06634	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	131	cd07877	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd06658	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd06640	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd06641	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	154	cd06608	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd06642	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd07844	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd06613	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	110	cd07839	NULL
2260	13186251	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd06625	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd07852	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	146	cd06639	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06656	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	148	cd05101	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06647	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd07880	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06655	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd06624	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06607	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	151	cd05098	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	132	cd07845	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	161	cd06614	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	235	cd05104	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	233	cd05106	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	161	cd05053	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	145	cd05100	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd06638	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	145	cd05099	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	145	cd07851	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd07878	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	131	cd07850	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	250	cd05055	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd07865	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd06643	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	160	cd07840	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	133	cd07833	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	227	cd05581	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	215	cd07842	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	142	cd08217	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd07831	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	140	cd07848	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd07846	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191	cd05103	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	239	cd05054	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	189	cd05102	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	132	cd06636	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	172	cd05057	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107_G	cd05594	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd05116	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05060	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd08220	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05086	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05058	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd07835	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd05593	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05591	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05118	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	109	cd05570	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	109	cd05582	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05590	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05619	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05592	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd05571	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05617	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05041	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05087	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05042	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05040	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	105	cd05085	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	105	cd05084	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd05044	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05603	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05620	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05602	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	108_G	cd05588	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd05076	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05078	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	130	cd05037	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	318	cd00192	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05077	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd06651	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd08222	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd08218	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	149	cd08215	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd07836	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122	cd07863	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd07860	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd07853	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	138	cd05045	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd08223	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd06628	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd07854	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd07857	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	154	cd07834	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd07859	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191	cd06606	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd06626	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd08225	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd08530	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd06627	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd07841	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd06629	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	133	cd08528	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05615	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117_G	cd05583	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd05613	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05614	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	144	cd05122	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05578	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	253	cd05107	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd07837	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd06610	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd07862	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd07847	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd07861	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd06617	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	481	COG0515	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd06622	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd06615	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd07873	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	146	cd06623	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd07856	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd06619	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd08229	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd08219	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd06621	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd06605	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	164	cd05580	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd08529	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd08228	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd07832	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd05587	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	134	cd06609	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05612	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd07872	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05616	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	136	cd06635	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	151	cd07829	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd05080	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd07838	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05589	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	138	cd05075	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	124	cd05074	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	134	cd05035	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	472	smart00221	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	395	smart00219	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191	pfam00069	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	163	cd07830	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06612	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	265	pfam07714	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	251	cd05105	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	626	cd05123	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd05047	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd08221	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd05115	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	178	cd05572	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	341	cd00180	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	105_G	cd05585	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122_G	cd06917	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107	cd05579	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05577	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	108	cd05608	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd06654	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	128	cd06659	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd06620	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	134	cd05094	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	131	cd05093	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd05064	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd05063	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	138	cd05049	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	133	cd05092	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	167	cd05096	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	142	cd05097	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	197	cd05046	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	172	cd05051	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	152	cd05095	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	144	cd05050	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd05091	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	138	cd05048	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd05090	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	28	smart00750	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05071	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05052	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	147	cd05056	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05073	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05070	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05067	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05068	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05082	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05034	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05083	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd05039	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05148	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd05072	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05069	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd07864	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd07870	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd07858	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd07849	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	122	cd06637	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd05036	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	130	cd05062	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	175	cd05032	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	130	cd05089	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	131	cd05061	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd06646	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd06645	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd07843	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	144	cd05033	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd05065	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	139	cd05038	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05079	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd05066	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05108	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125	cd06616	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05109	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	142	cd07866	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd05088	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05112	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05059	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05113	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05114	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05110	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd05111	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121	cd06644	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd06611	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd06618	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd06657	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	127	cd06648	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd08224	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd07871	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	119	cd05081	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	141	cd06652	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd06653	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	153	cd05043	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05630	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05632	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05605	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd06630	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd06631	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	130	cd06632	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05584	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	379	smart00220	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	126	cd06634	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	131	cd07877	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd06658	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd06640	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd06641	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	154	cd06608	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd06642	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd07844	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd06613	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	110	cd07839	NULL
2260	291327493	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd06625	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94	cd05578	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	96_G	cd06630	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112_G	cd06632	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	96	cd05584	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	97	cd06631	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123_G	cd06639	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	104_G	cd07843	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd07852	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd06635	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	102	cd05108	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	100	cd07866	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	99_G	cd05110	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	93	cd05112	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	93	cd05059	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	93	cd05113	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	93	cd05114	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	102	cd05111	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	102	cd05088	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd05033	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	99	cd05065	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05038	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	102	cd05079	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	99	cd05066	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	103_G	cd06616	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	102	cd05109	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	108_G	cd06654	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	99_G	cd06625	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	91_G	cd07839	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd05105	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	93_G	cd06642	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	96	cd06640	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94_G	cd06641	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	96	cd06613	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94_G	cd07844	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	133	cd06608	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd06658	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	90	cd07857	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	99	cd05583	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	99	cd05613	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	91	cd07836	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	103	cd07863	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	92	cd07860	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	101	cd07854	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	96_G	cd07859	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	136	cd07834	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	169	cd06606	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	96	cd06626	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	93	cd08225	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd08215	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94	cd08223	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	100_G	cd06628	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	96	cd08530	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	97_G	cd06627	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	109	cd07841	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd05122	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	91_G	cd07853	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	99	cd05614	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd08528	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd06629	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	99_G	cd06651	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	95_G	cd08222	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	93	cd08218	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	97	cd05045	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94_G	cd05615	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	88_G	cd05579	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	90	cd05047	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	78	cd05577	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	84_G	cd05608	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	136	cd05572	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	292	cd00180	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	130	cd05123	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	88	cd05115	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	102	cd06917	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	93	cd08221	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	86_G	cd05585	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	99	cd07835	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	90	cd05603	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	90	cd05588	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	92	cd05570	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	89	cd05594	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	86	cd05041	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	89	cd05087	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	92	cd05042	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94	cd05040	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	87	cd05085	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	87	cd05084	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	93	cd05044	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	89	cd05116	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94	cd05060	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	90	cd05591	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	110	cd05076	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	93	cd05078	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	110	cd05037	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	156	cd00192	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	98	cd05077	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	90	cd05592	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	89	cd05571	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	90	cd05617	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	90	cd05620	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	89	cd05593	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	95	cd08220	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	90	cd05602	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	89	cd05086	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	96_G	cd05058	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	101	cd05118	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	91_G	cd05582	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	90	cd05590	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	89_G	cd05619	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd06659	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	185_G	cd07842	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94_G	cd07846	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	93	cd07831	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	121_G	cd07848	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	139_G	cd07840	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114_G	cd07833	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	146	cd05581	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	99	cd08217	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	100	cd06646	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	100	cd06645	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd07837	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	102	cd07862	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94	cd07847	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	91_G	cd07861	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd07832	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd06623	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	96_G	cd07873	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd06621	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	96_G	cd06605	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	96_G	cd07872	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	95	cd05616	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	103	cd07856	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94	cd06617	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	95	cd05612	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	95	cd06610	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94_G	cd08229	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	92	cd08219	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	109	cd06609	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	92	cd06622	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	96	cd06615	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	446	COG0515	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	143	cd05580	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	98	cd08529	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94_G	cd08228	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113_G	cd06619	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	99_G	cd05587	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	328	smart00220	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	104	cd05049	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	101	cd05092	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05096	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd05097	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	162	cd05046	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	136	cd05051	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	116	cd05095	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	102	cd05050	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	100	cd05064	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	101	cd05063	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	99	cd06620	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	101	cd05094	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	101	cd05093	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	102	cd05091	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	103	cd05048	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	101	cd05090	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	137	cd05106	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd07877	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	108	cd06634	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	102_G	cd07865	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	93_G	cd06643	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	97	cd08224	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	92_G	cd07871	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	91_G	cd05630	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94	cd05632	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94	cd05605	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	101	cd05081	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	125_G	cd05043	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	99_G	cd06653	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	108	cd06652	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	147	cd05107	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd05103	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd05054	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd05102	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	149_G	cd05057	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	113	cd06636	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05053	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05100	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	112	cd05099	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	114	cd06638	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	118	cd05098	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	90	cd07858	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94	cd05071	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	103	cd06637	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	103	cd05036	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	103	cd05062	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	136	cd05032	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	95_G	cd07864	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	95	cd07870	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	93	cd07849	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	103	cd05061	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	97	cd05089	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	129	cd05056	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94_G	cd05052	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94	cd05069	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	93_G	cd05073	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94	cd05070	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94	cd05067	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	95	cd05068	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94	cd05082	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	93_G	cd05034	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	98	cd05039	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	92	cd05083	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	95_G	cd05148	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	95	cd05072	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd07850	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	105	cd07878	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	123	cd07851	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	135	cd05055	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	133	cd05104	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	101	cd07845	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120_G	cd06614	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd06648	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	392	smart00221	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	99_G	cd05080	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	117	cd07838	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	100	cd05075	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	101	cd05074	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd05035	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	259	smart00219	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	157	pfam00069	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	134	cd07830	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	105	cd06612	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	148	pfam07714	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	94_G	cd05589	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	120	cd07829	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	111	cd06657	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	100_G	cd06644	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	106	cd06618	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	97_G	cd06611	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	108_G	cd06647	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	104	cd06624	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	108	cd06607	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	115	cd05101	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	100	cd07880	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107_G	cd06656	NULL
2260	291327497	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	107_G	cd06655	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	206	cd06625	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196	cd07839	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05108	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	219	cd05088	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05109	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	241	cd05033	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05065	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	234	cd05038	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	208	cd05079	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd05066	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05111	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05110	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	197	cd05112	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199	cd05059	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	198	cd05113	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	197	cd05114	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	213_G	cd06616	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	250	cd07866	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	232	cd07851	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	216	cd07850	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211_G	cd07878	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	238	cd05098	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	862	smart00221	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196	cd05589	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	206	cd05080	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	225	cd05075	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211	cd05074	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	221	cd05035	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	251	cd07829	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	245	cd07838	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	586	smart00219	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	349	pfam00069	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	272	cd07830	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	215_G	cd06612	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	393	pfam07714	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	203	cd08224	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196_G	cd05630	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196_G	cd05632	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196_G	cd05605	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199_G	cd07871	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05081	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd06653	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	229	cd06652	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	243	cd05043	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	322	cd05104	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	185	smart00750	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	246	cd07865	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	204	cd06643	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	248	cd05053	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	232	cd05100	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	232	cd05099	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	224	cd06638	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	219_G	cd07845	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	249_G	cd06614	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	230	cd05049	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	220	cd05092	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	265	cd05096	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	229	cd05097	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	283	cd05046	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	268	cd05051	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	239	cd05095	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	231	cd05050	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	228	cd05094	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	218	cd05093	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd05064	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05063	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	201	cd06620	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	222	cd05091	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	225	cd05048	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	222	cd05090	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	340	cd05107	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	206_G	cd05578	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	235	cd06639	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	278	cd05103	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	327	cd05054	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	276	cd05102	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	221	cd06636	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	261	cd05057	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	213_G	cd06658	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211_G	cd06648	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	204_G	cd06630	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199_G	cd05584	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	221_G	cd06632	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205_G	cd06631	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	739_G	cd05579	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196_G	cd05577	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	193	cd05608	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	807_G	cd05123	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	200	cd08221	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	266_G	cd05572	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	681	cd00180	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05047	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	209_G	cd06917	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	194	cd05115	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	188_G	cd05585	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd06646	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd06645	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	210_G	cd06655	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211_G	cd06624	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	210_G	cd06647	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	210	cd06607	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211_G	cd07880	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	235	cd05101	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	210_G	cd06656	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	200_G	cd07873	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211	cd06621	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	219	cd06605	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	193	cd05612	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	929	COG0515	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	209	cd06619	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	195_G	cd06615	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202	cd08229	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196	cd08219	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	206	cd07862	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	203_G	cd07847	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199	cd07861	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	215_G	cd07837	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	254	cd06623	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	201_G	cd05587	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	220	cd06622	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	200_G	cd07872	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196_G	cd05616	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	219_G	cd06610	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	226_G	cd06609	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	217	cd07832	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	201_G	cd07856	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	204	cd06617	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	258	cd05580	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202	cd08529	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202	cd08228	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196	cd06642	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	200_G	cd07844	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196	cd06640	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196	cd06641	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd06613	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	244	cd06608	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	239	cd07843	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211_G	cd06657	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	790	smart00220	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211_G	cd06629	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd06651	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202	cd08222	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	197	cd08218	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	342	cd06606	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	242_G	cd06626	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	198	cd08225	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202_G	cd05614	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	285	cd07834	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	225	cd05045	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	204_G	cd05583	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	216_G	cd05613	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199_G	cd07836	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	206	cd07863	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	197	cd07860	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	196_G	cd05615	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	198	cd08223	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211_G	cd06628	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd07853	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	204	cd08530	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	240_G	cd06627	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	254	cd07841	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	266	cd08215	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	219	cd08528	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	212	cd07857	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	240_G	cd05122	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	226_G	cd07854	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	208_G	cd07859	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211	cd06644	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd06611	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	218_G	cd06618	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	338	cd05105	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	320	cd05106	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	223	cd07852	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	210	cd06634	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	213_G	cd07877	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	344	cd07842	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	276	cd07833	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	446_G	cd05581	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	203	cd07831	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	225	cd07848	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	198_G	cd07846	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	295_G	cd07840	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	269	cd08217	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	337	cd05055	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	212_G	cd06659	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191_G	cd05594	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	207	cd05592	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191_G	cd05571	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191_G	cd05617	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	194	cd05041	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	210	cd05087	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	209	cd05042	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	209	cd05040	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191	cd05085	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	192	cd05084	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	215	cd05044	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	209	cd05118	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191	cd05602	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	206	cd08220	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191_G	cd05588	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	206	cd05620	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191_G	cd05591	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	190_G	cd05593	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	194	cd05116	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	201	cd05060	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	224	cd07835	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191	cd05603	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	218	cd05076	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202_G	cd05078	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	227	cd05037	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	434	cd00192	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd05077	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	193	cd05570	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd05086	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd05058	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	193_G	cd05582	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191_G	cd05590	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	191	cd05619	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	220_G	cd07849	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211	cd06637	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	220	cd05036	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	217	cd05062	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	262	cd05032	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	214	cd05089	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	235	cd05056	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	201	cd05052	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199	cd05069	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	200	cd05073	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199	cd05070	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199	cd05067	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	205	cd05068	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	195	cd05082	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	210	cd05034	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	193	cd05083	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202	cd05039	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	202	cd05148	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	200	cd05072	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	208	cd07858	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199	cd05071	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	217	cd07864	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	199_G	cd07870	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	218	cd05061	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	220	cd06635	NULL
2260	13186234	Disease	p.Val607Met	136350.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA	OMIM	211_G	cd06654	NULL
2260	120046	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	6	cd05737	105990522,NP_075598
2260	120046	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	8	cd05728	105990522,NP_075598
2260	120046	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	5	smart00409	105990522,NP_075598
2260	120046	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	5	smart00410	105990522,NP_075598
2260	120046	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	5	cd05856	105990522,NP_075598
2260	120046	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	5	cd05729	105990522,NP_075598
2260	120046	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	5	cd05857	105990522,NP_075598
2260	120046	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	10	pfam07679	105990522,NP_075598
2260	291327489	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	6	cd05737	NULL
2260	291327489	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	8	cd05728	NULL
2260	291327489	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	5	smart00409	NULL
2260	291327489	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	5	smart00410	NULL
2260	291327489	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	5	cd05856	NULL
2260	291327489	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	5	cd05729	NULL
2260	291327489	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	5	cd05857	NULL
2260	291327489	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	10	pfam07679	NULL
2260	291327491	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	3	cd05723	NULL
2260	291327491	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	2	cd05763	NULL
2260	291327491	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	2	cd05736	NULL
2260	291327491	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	2	cd05876	NULL
2260	291327491	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	2	cd05731	NULL
2260	291327491	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	2	cd05725	NULL
2260	291327491	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	2	cd00096	NULL
2260	291327491	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	6	smart00408	NULL
2260	291327491	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	6	cd05745	NULL
2260	291327491	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	5	cd05765	NULL
2260	291327491	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	5	pfam00047	NULL
2260	291327491	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	20	pfam07679	NULL
2260	291327491	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	15	smart00409	NULL
2260	291327491	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	15	smart00410	NULL
2260	291327491	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	13	cd05856	NULL
2260	291327491	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	13	cd05729	NULL
2260	291327491	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	13	cd05857	NULL
2260	291327491	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	20	cd05737	NULL
2260	291327491	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	18	cd05728	NULL
2260	291327495	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	2	cd04968	NULL
2260	291327495	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	5	cd05732	NULL
2260	291327495	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	4	cd05869	NULL
2260	13186236	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	6	cd05869	NULL
2260	13186236	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	7	cd05732	NULL
2260	13186236	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	4	cd04968	NULL
2260	13186251	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	7	smart00409	NULL
2260	13186251	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	7	smart00410	NULL
2260	13186251	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	7	cd05856	NULL
2260	13186251	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	7	cd05729	NULL
2260	13186251	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	7	cd05857	NULL
2260	13186251	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	12	pfam07679	NULL
2260	13186251	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	8	cd05737	NULL
2260	13186251	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	10	cd05728	NULL
2260	291327493	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	7	smart00409	NULL
2260	291327493	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	7	smart00410	NULL
2260	291327493	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	7	cd05856	NULL
2260	291327493	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	7	cd05729	NULL
2260	291327493	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	7	cd05857	NULL
2260	291327493	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	12	pfam07679	NULL
2260	291327493	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	8	cd05737	NULL
2260	291327493	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	10	cd05728	NULL
2260	291327497	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	No Domain	N/A	NULL
2260	13186234	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	2	cd04968	NULL
2260	13186234	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	5	cd05732	NULL
2260	13186234	Disease	p.Ala167Ser	136350.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	4	cd05869	NULL
2260	120046	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	No Domain	N/A	105990522,NP_075598
2260	291327489	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	No Domain	N/A	NULL
2260	291327491	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	No Domain	N/A	NULL
2260	291327495	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd07851	NULL
2260	291327495	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd07850	NULL
2260	291327495	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd07878	NULL
2260	291327495	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	3	cd05098	NULL
2260	291327495	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	20	cd05104	NULL
2260	291327495	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd07845	NULL
2260	291327495	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd06614	NULL
2260	291327495	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	22	cd05107	NULL
2260	291327495	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	5	cd06639	NULL
2260	291327495	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	12	cd06658	NULL
2260	291327495	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10	cd06657	NULL
2260	291327495	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	22	cd05105	NULL
2260	291327495	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	23	cd05106	NULL
2260	291327495	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	5	cd06634	NULL
2260	291327495	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	4	cd07877	NULL
2260	291327495	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	12	cd05055	NULL
2260	291327495	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	11	cd06659	NULL
2260	291327495	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	15	cd06635	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd06647	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd06656	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	4	cd07880	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd06655	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd06607	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	5	cd06624	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd05101	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	18	cd05055	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	3	cd06654	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	24	cd05105	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd06639	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	22	cd05104	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	14	cd06658	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	5	cd05098	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	12	cd06657	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	25	cd05106	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	13	cd06659	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	24	cd05107	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd06614	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd07845	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	17	cd06635	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	4	cd07850	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	4	cd07851	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	4	cd07878	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	6	cd07877	NULL
2260	13186236	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd06634	NULL
2260	13186251	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	No Domain	N/A	NULL
2260	291327493	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	No Domain	N/A	NULL
2260	291327497	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	112	pfam07686	NULL
2260	291327497	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	95	pfam07679	NULL
2260	291327497	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	56	cd05736	NULL
2260	291327497	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	55	cd05725	NULL
2260	291327497	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	125	cd00096	NULL
2260	291327497	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	80	cd05869	NULL
2260	291327497	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	200	smart00409	NULL
2260	291327497	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	200	smart00410	NULL
2260	291327497	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	68	cd05729	NULL
2260	291327497	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	120	smart00408	NULL
2260	291327497	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	71	cd04968	NULL
2260	291327497	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	57	cd05723	NULL
2260	291327497	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	82	cd05732	NULL
2260	291327497	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	90	pfam00047	NULL
2260	291327497	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	73	cd05858	NULL
2260	291327497	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	90	cd04974	NULL
2260	291327497	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	65	cd05765	NULL
2260	291327497	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	70	cd04969	NULL
2260	13186234	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd07851	NULL
2260	13186234	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd07850	NULL
2260	13186234	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd07878	NULL
2260	13186234	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	3	cd05098	NULL
2260	13186234	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	20	cd05104	NULL
2260	13186234	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd07845	NULL
2260	13186234	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd06614	NULL
2260	13186234	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	22	cd05107	NULL
2260	13186234	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	5	cd06639	NULL
2260	13186234	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	12	cd06658	NULL
2260	13186234	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10	cd06657	NULL
2260	13186234	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	22	cd05105	NULL
2260	13186234	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	23	cd05106	NULL
2260	13186234	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	5	cd06634	NULL
2260	13186234	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	4	cd07877	NULL
2260	13186234	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	12	cd05055	NULL
2260	13186234	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	11	cd06659	NULL
2260	13186234	Disease	p.Tyr372Cys	136350.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	15	cd06635	NULL
2260	120046	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	100	pfam07686	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	60	cd04968	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	46	cd05723	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	84	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	71	cd05732	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	45	cd05736	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	44	cd05725	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	98	cd00096	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	181	smart00409	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	181	smart00410	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	57	cd05729	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	108	smart00408	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	69	cd05869	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	62	cd05858	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	71	cd04974	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	78	pfam00047	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	54	cd05765	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	59	cd04969	105990522,NP_075598
2260	291327489	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	100	pfam07686	NULL
2260	291327489	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	60	cd04968	NULL
2260	291327489	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	46	cd05723	NULL
2260	291327489	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	84	pfam07679	NULL
2260	291327489	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	45	cd05736	NULL
2260	291327489	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	44	cd05725	NULL
2260	291327489	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	98	cd00096	NULL
2260	291327489	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	71	cd05732	NULL
2260	291327489	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	181	smart00409	NULL
2260	291327489	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	181	smart00410	NULL
2260	291327489	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	57	cd05729	NULL
2260	291327489	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	108	smart00408	NULL
2260	291327489	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	69	cd05869	NULL
2260	291327489	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	62	cd05858	NULL
2260	291327489	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	71	cd04974	NULL
2260	291327489	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	78	pfam00047	NULL
2260	291327489	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	54	cd05765	NULL
2260	291327489	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	59	cd04969	NULL
2260	291327491	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	54	cd05723	NULL
2260	291327491	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	65	cd05729	NULL
2260	291327491	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	197	smart00409	NULL
2260	291327491	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	197	smart00410	NULL
2260	291327491	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	77	cd05869	NULL
2260	291327491	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	62	cd05765	NULL
2260	291327491	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	67	cd04969	NULL
2260	291327491	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	87	pfam00047	NULL
2260	291327491	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	70	cd05858	NULL
2260	291327491	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	87	cd04974	NULL
2260	291327491	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	92	pfam07679	NULL
2260	291327491	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	117	smart00408	NULL
2260	291327491	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	52	cd05725	NULL
2260	291327491	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	53	cd05736	NULL
2260	291327491	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	122	cd00096	NULL
2260	291327491	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	109	pfam07686	NULL
2260	291327491	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	68	cd04968	NULL
2260	291327491	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	79	cd05732	NULL
2260	291327495	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	No Domain	N/A	NULL
2260	13186236	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	No Domain	N/A	NULL
2260	13186251	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	59	cd05729	NULL
2260	13186251	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	183	smart00409	NULL
2260	13186251	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	183	smart00410	NULL
2260	13186251	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	56	cd05765	NULL
2260	13186251	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	61	cd04969	NULL
2260	13186251	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	64	cd05858	NULL
2260	13186251	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	73	cd04974	NULL
2260	13186251	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	80	pfam00047	NULL
2260	13186251	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	46	cd05725	NULL
2260	13186251	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	47	cd05736	NULL
2260	13186251	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	100	cd00096	NULL
2260	13186251	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	110	smart00408	NULL
2260	13186251	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	103	pfam07686	NULL
2260	13186251	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	86	pfam07679	NULL
2260	13186251	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	71	cd05869	NULL
2260	13186251	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	73	cd05732	NULL
2260	13186251	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	62	cd04968	NULL
2260	13186251	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	48	cd05723	NULL
2260	291327493	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	59	cd05729	NULL
2260	291327493	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	183	smart00409	NULL
2260	291327493	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	183	smart00410	NULL
2260	291327493	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	56	cd05765	NULL
2260	291327493	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	61	cd04969	NULL
2260	291327493	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	64	cd05858	NULL
2260	291327493	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	73	cd04974	NULL
2260	291327493	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	80	pfam00047	NULL
2260	291327493	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	46	cd05725	NULL
2260	291327493	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	47	cd05736	NULL
2260	291327493	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	100	cd00096	NULL
2260	291327493	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	110	smart00408	NULL
2260	291327493	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	103	pfam07686	NULL
2260	291327493	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	86	pfam07679	NULL
2260	291327493	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	71	cd05869	NULL
2260	291327493	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	73	cd05732	NULL
2260	291327493	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	62	cd04968	NULL
2260	291327493	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	48	cd05723	NULL
2260	291327497	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	46	pfam07686	NULL
2260	291327497	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	44	pfam07679	NULL
2260	291327497	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	23	cd05736	NULL
2260	291327497	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	22_G	cd05725	NULL
2260	291327497	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	41	cd00096	NULL
2260	291327497	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	46	cd05869	NULL
2260	291327497	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	111	smart00409	NULL
2260	291327497	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	111	smart00410	NULL
2260	291327497	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	30_G	cd05729	NULL
2260	291327497	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	52	smart00408	NULL
2260	291327497	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	42	cd04968	NULL
2260	291327497	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	24	cd05723	NULL
2260	291327497	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	44	cd05732	NULL
2260	291327497	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	35	pfam00047	NULL
2260	291327497	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	31	cd05858	NULL
2260	291327497	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	31	cd04974	NULL
2260	291327497	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	30	cd05765	NULL
2260	291327497	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	28	cd04969	NULL
2260	13186234	Disease	p.Asn330Ile	136350.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	No Domain	N/A	NULL
2260	120046	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	No Domain	N/A	105990522,NP_075598
2260	291327489	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	No Domain	N/A	NULL
2260	291327491	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	No Domain	N/A	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd07851	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd07850	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	8	cd07878	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10	cd05098	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	27	cd05104	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	5	cd07865	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	5	cd06643	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	4	cd05053	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	4	cd05100	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	4	cd05099	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	4	cd06638	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10_G	cd07845	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	14	cd06614	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	29	cd05107	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	12	cd06639	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	19	cd06658	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	3	cd06648	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd06655	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10	cd06624	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd06647	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd06607	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	8	cd07880	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd05101	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd06656	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	17	cd06657	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	3	cd06644	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd06611	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd06618	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	29	cd05105	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	30	cd05106	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	12	cd06634	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10	cd07877	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	29	cd05055	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	18	cd06659	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	22	cd06635	NULL
2260	291327495	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	8	cd06654	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd06647	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd06656	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10	cd07880	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd06655	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd06607	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10_G	cd06624	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd05101	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	31	cd05055	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10	cd06654	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	31	cd05105	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	5	cd06648	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd06618	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	5	cd06644	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	4	cd06611	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	14	cd06639	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	29	cd05104	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	21	cd06658	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	12	cd05098	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	19	cd06657	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	3	cd06646	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	3	cd06645	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	32	cd05106	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd07865	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	6	cd06643	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	20	cd06659	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	31	cd05107	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	14_G	cd06614	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10_G	cd07845	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	24	cd06635	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	11	cd07850	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10	cd07851	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10	cd07878	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	6	cd05099	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	6	cd06638	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	6	cd05100	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	6	cd05053	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	12	cd07877	NULL
2260	13186236	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	14	cd06634	NULL
2260	13186251	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	No Domain	N/A	NULL
2260	291327493	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	No Domain	N/A	NULL
2260	291327497	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	135	pfam07686	NULL
2260	291327497	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	103	pfam07679	NULL
2260	291327497	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	63	cd05736	NULL
2260	291327497	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	62	cd05725	NULL
2260	291327497	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	165	cd00096	NULL
2260	291327497	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	87	cd05869	NULL
2260	291327497	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	227	smart00409	NULL
2260	291327497	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	227	smart00410	NULL
2260	291327497	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	75	cd05729	NULL
2260	291327497	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	78	cd04968	NULL
2260	291327497	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	64	cd05723	NULL
2260	291327497	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	89	cd05732	NULL
2260	291327497	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	80	cd05858	NULL
2260	291327497	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	99	cd04974	NULL
2260	291327497	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	72	cd05765	NULL
2260	291327497	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	77	cd04969	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd07851	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd07850	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	8	cd07878	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10	cd05098	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	27	cd05104	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	5	cd07865	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	5	cd06643	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	4	cd05053	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	4	cd05100	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	4	cd05099	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	4	cd06638	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10_G	cd07845	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	14	cd06614	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	29	cd05107	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	12	cd06639	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	19	cd06658	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	3	cd06648	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd06655	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10	cd06624	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd06647	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd06607	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	8	cd07880	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd05101	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd06656	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	17	cd06657	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	3	cd06644	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd06611	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd06618	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	29	cd05105	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	30	cd05106	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	12	cd06634	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10	cd07877	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	29	cd05055	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	18	cd06659	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	22	cd06635	NULL
2260	13186234	Disease	p.Cys379Arg	136350.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	8	cd06654	NULL
2260	120046	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	47	pfam07686	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	43	cd04968	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	25	cd05723	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	45	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	45	cd05732	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	24	cd05736	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	23	cd05725	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	42	cd00096	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	112	smart00409	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	112	smart00410	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	30_G	cd05729	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	53	smart00408	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	46_G	cd05869	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	32	cd05858	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	41	cd04974	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	36	pfam00047	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	31	cd05765	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	29	cd04969	105990522,NP_075598
2260	291327489	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	47	pfam07686	NULL
2260	291327489	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	43	cd04968	NULL
2260	291327489	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	25	cd05723	NULL
2260	291327489	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	45	pfam07679	NULL
2260	291327489	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	24	cd05736	NULL
2260	291327489	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	23	cd05725	NULL
2260	291327489	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	42	cd00096	NULL
2260	291327489	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	45	cd05732	NULL
2260	291327489	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	112	smart00409	NULL
2260	291327489	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	112	smart00410	NULL
2260	291327489	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	30_G	cd05729	NULL
2260	291327489	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	53	smart00408	NULL
2260	291327489	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	46_G	cd05869	NULL
2260	291327489	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	32	cd05858	NULL
2260	291327489	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	41	cd04974	NULL
2260	291327489	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	36	pfam00047	NULL
2260	291327489	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	31	cd05765	NULL
2260	291327489	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	29	cd04969	NULL
2260	291327491	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	31	cd05723	NULL
2260	291327491	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	36	cd05729	NULL
2260	291327491	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	122	smart00409	NULL
2260	291327491	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	122	smart00410	NULL
2260	291327491	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	47	cd05869	NULL
2260	291327491	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	31_G	cd05765	NULL
2260	291327491	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	35	cd04969	NULL
2260	291327491	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	44	pfam00047	NULL
2260	291327491	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	40	cd05858	NULL
2260	291327491	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	49	cd04974	NULL
2260	291327491	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	63	pfam07679	NULL
2260	291327491	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	68	smart00408	NULL
2260	291327491	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	31	cd05725	NULL
2260	291327491	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	31	cd05736	NULL
2260	291327491	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	76	cd00096	NULL
2260	291327491	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	55	pfam07686	NULL
2260	291327491	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	46	cd04968	NULL
2260	291327491	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	49_G	cd05732	NULL
2260	291327495	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	No Domain	N/A	NULL
2260	13186236	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	No Domain	N/A	NULL
2260	13186251	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	30_G	cd05729	NULL
2260	13186251	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	114	smart00409	NULL
2260	13186251	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	114	smart00410	NULL
2260	13186251	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	31_G	cd05765	NULL
2260	13186251	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	31	cd04969	NULL
2260	13186251	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	34	cd05858	NULL
2260	13186251	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	43	cd04974	NULL
2260	13186251	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	38	pfam00047	NULL
2260	13186251	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	24_G	cd05725	NULL
2260	13186251	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	26	cd05736	NULL
2260	13186251	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	44	cd00096	NULL
2260	13186251	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	61	smart00408	NULL
2260	13186251	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	49	pfam07686	NULL
2260	13186251	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	47	pfam07679	NULL
2260	13186251	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	46_G	cd05869	NULL
2260	13186251	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	47	cd05732	NULL
2260	13186251	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	43_G	cd04968	NULL
2260	13186251	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	27	cd05723	NULL
2260	291327493	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	30_G	cd05729	NULL
2260	291327493	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	114	smart00409	NULL
2260	291327493	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	114	smart00410	NULL
2260	291327493	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	31_G	cd05765	NULL
2260	291327493	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	31	cd04969	NULL
2260	291327493	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	34	cd05858	NULL
2260	291327493	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	43	cd04974	NULL
2260	291327493	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	38	pfam00047	NULL
2260	291327493	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	24_G	cd05725	NULL
2260	291327493	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	26	cd05736	NULL
2260	291327493	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	44	cd00096	NULL
2260	291327493	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	61	smart00408	NULL
2260	291327493	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	49	pfam07686	NULL
2260	291327493	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	47	pfam07679	NULL
2260	291327493	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	46_G	cd05869	NULL
2260	291327493	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	47	cd05732	NULL
2260	291327493	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	43_G	cd04968	NULL
2260	291327493	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	27	cd05723	NULL
2260	291327497	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	6	pfam07686	NULL
2260	291327497	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	15	pfam07679	NULL
2260	291327497	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	16	cd05869	NULL
2260	291327497	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	8	smart00409	NULL
2260	291327497	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	8	smart00410	NULL
2260	291327497	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	8	cd05729	NULL
2260	291327497	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	15	cd04968	NULL
2260	291327497	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	15	cd05732	NULL
2260	13186234	Disease	p.Ile300Thr	136350.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	TRIGONOCEPHALY	OMIM	No Domain	N/A	NULL
2260	120046	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	No Domain	N/A	105990522,NP_075598
2260	291327489	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	No Domain	N/A	NULL
2260	291327491	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	No Domain	N/A	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10	cd07851	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	11	cd07850	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10	cd07878	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	12	cd05098	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	29	cd05104	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd07865	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	6	cd06643	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	6	cd05053	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	6	cd05100	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	6	cd05099	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	6	cd06638	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10_G	cd07845	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	14_G	cd06614	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	31	cd05107	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	14	cd06639	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	21	cd06658	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	5	cd06648	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	3	cd06646	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	3	cd06645	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd06655	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10_G	cd06624	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd06647	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd06607	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10	cd07880	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd05101	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd06656	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	19	cd06657	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	5	cd06644	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	4	cd06611	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd06618	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	31	cd05105	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	32	cd05106	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	14	cd06634	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	12	cd07877	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	31	cd05055	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	20	cd06659	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	24	cd06635	NULL
2260	291327495	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10	cd06654	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	11	cd06647	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	11	cd06656	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	12	cd07880	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	11	cd06655	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	11	cd06607	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10_G	cd06624	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	11	cd05101	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	33	cd05055	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	12	cd06654	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	33	cd05105	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd06648	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	11	cd06618	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd06644	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	8	cd06611	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	16	cd06639	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	31	cd05104	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd05052	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd07849	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd05071	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd06637	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd05036	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd05062	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd05032	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd05061	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd05073	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd05070	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd05067	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd05068	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd05082	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd05034	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd05083	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd05039	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd05148	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd05072	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd05089	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	3	cd07864	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd07870	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd07858	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd05069	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	2	cd05056	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	23	cd06658	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	14	cd05098	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	21	cd06657	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	5	cd06646	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	5	cd06645	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	34	cd05106	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	3	cd05103	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	3	cd05054	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	3	cd05102	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	3	cd06636	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	3	cd05057	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd07865	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	8	cd06643	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	22	cd06659	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	33	cd05107	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	15	cd06614	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	11	cd07845	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	26	cd06635	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	13	cd07850	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	12	cd07851	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	12	cd07878	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	8	cd05099	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	14	cd06638	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	8	cd05100	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	8	cd05053	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	14	cd07877	NULL
2260	13186236	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	16	cd06634	NULL
2260	13186251	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	No Domain	N/A	NULL
2260	291327493	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	No Domain	N/A	NULL
2260	291327497	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	137	pfam07686	NULL
2260	291327497	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	105	pfam07679	NULL
2260	291327497	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	65	cd05736	NULL
2260	291327497	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	64	cd05725	NULL
2260	291327497	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	167	cd00096	NULL
2260	291327497	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	89	cd05869	NULL
2260	291327497	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	231	smart00409	NULL
2260	291327497	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	231	smart00410	NULL
2260	291327497	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	77	cd05729	NULL
2260	291327497	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	80	cd04968	NULL
2260	291327497	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	66	cd05723	NULL
2260	291327497	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	91	cd05732	NULL
2260	291327497	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	82	cd05858	NULL
2260	291327497	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	101	cd04974	NULL
2260	291327497	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	74	cd05765	NULL
2260	291327497	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	79	cd04969	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10	cd07851	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	11	cd07850	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10	cd07878	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	12	cd05098	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	29	cd05104	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	7	cd07865	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	6	cd06643	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	6	cd05053	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	6	cd05100	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	6	cd05099	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	6	cd06638	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10_G	cd07845	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	14_G	cd06614	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	31	cd05107	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	14	cd06639	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	21	cd06658	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	5	cd06648	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	3	cd06646	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	3	cd06645	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd06655	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10_G	cd06624	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd06647	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd06607	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10	cd07880	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd05101	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd06656	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	19	cd06657	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	5	cd06644	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	4	cd06611	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	9	cd06618	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	31	cd05105	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	32	cd05106	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	14	cd06634	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	12	cd07877	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	31	cd05055	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	20	cd06659	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	24	cd06635	NULL
2260	13186234	Disease	p.Cys381Arg	136350.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	OSTEOGLOPHONIC DYSPLASIA	OMIM	10	cd06654	NULL
2260	120046	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	64	cd05745	105990522,NP_075598
2260	120046	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	82	cd05737	105990522,NP_075598
2260	120046	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	75	cd05728	105990522,NP_075598
2260	120046	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	227	smart00409	105990522,NP_075598
2260	120046	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	227	smart00410	105990522,NP_075598
2260	120046	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	72	cd05856	105990522,NP_075598
2260	120046	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	75	cd05729	105990522,NP_075598
2260	120046	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	75	cd05857	105990522,NP_075598
2260	120046	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	83	cd05724	105990522,NP_075598
2260	120046	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	63	cd05736	105990522,NP_075598
2260	120046	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	165	cd00096	105990522,NP_075598
2260	120046	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	64	cd05763	105990522,NP_075598
2260	120046	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	60	cd05876	105990522,NP_075598
2260	120046	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	60	cd05731	105990522,NP_075598
2260	120046	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	62	cd05725	105990522,NP_075598
2260	120046	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	103	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	71	cd05750	105990522,NP_075598
2260	120046	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	64	cd05723	105990522,NP_075598
2260	120046	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	72	cd05765	105990522,NP_075598
2260	291327489	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	64	cd05745	NULL
2260	291327489	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	82	cd05737	NULL
2260	291327489	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	75	cd05728	NULL
2260	291327489	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	227	smart00409	NULL
2260	291327489	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	227	smart00410	NULL
2260	291327489	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	72	cd05856	NULL
2260	291327489	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	75	cd05729	NULL
2260	291327489	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	75	cd05857	NULL
2260	291327489	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	63	cd05736	NULL
2260	291327489	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	165	cd00096	NULL
2260	291327489	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	64	cd05763	NULL
2260	291327489	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	60	cd05876	NULL
2260	291327489	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	60	cd05731	NULL
2260	291327489	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	62	cd05725	NULL
2260	291327489	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	64	cd05723	NULL
2260	291327489	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	83	cd05724	NULL
2260	291327489	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	103	pfam07679	NULL
2260	291327489	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	71	cd05750	NULL
2260	291327489	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	72	cd05765	NULL
2260	291327491	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	72	cd05723	NULL
2260	291327491	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	72	cd05763	NULL
2260	291327491	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	71	cd05736	NULL
2260	291327491	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	68	cd05876	NULL
2260	291327491	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	68	cd05731	NULL
2260	291327491	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	70	cd05725	NULL
2260	291327491	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	72	cd05745	NULL
2260	291327491	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	80	cd05765	NULL
2260	291327491	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	111	pfam07679	NULL
2260	291327491	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	248	smart00409	NULL
2260	291327491	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	248	smart00410	NULL
2260	291327491	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	80	cd05856	NULL
2260	291327491	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	83	cd05729	NULL
2260	291327491	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	83	cd05857	NULL
2260	291327491	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	90	cd05737	NULL
2260	291327491	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	83	cd05728	NULL
2260	291327491	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	92	cd05724	NULL
2260	291327495	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	80	pfam07679	NULL
2260	291327495	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	104	smart00408	NULL
2260	291327495	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	56	cd04968	NULL
2260	291327495	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	67	cd05732	NULL
2260	291327495	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	40	cd05725	NULL
2260	291327495	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	41	cd05736	NULL
2260	291327495	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	94	cd00096	NULL
2260	291327495	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	96	pfam07686	NULL
2260	291327495	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	50	cd05765	NULL
2260	291327495	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	55	cd04969	NULL
2260	291327495	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	74	pfam00047	NULL
2260	291327495	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	58	cd05858	NULL
2260	291327495	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	67	cd04974	NULL
2260	291327495	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	42	cd05723	NULL
2260	291327495	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	53	cd05729	NULL
2260	291327495	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	175	smart00409	NULL
2260	291327495	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	175	smart00410	NULL
2260	291327495	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	65	cd05869	NULL
2260	13186236	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	76	pfam00047	NULL
2260	13186236	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	52	cd05765	NULL
2260	13186236	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	57	cd04969	NULL
2260	13186236	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	60	cd05858	NULL
2260	13186236	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	69	cd04974	NULL
2260	13186236	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	67	cd05869	NULL
2260	13186236	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	42	cd05725	NULL
2260	13186236	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	96	cd00096	NULL
2260	13186236	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	43	cd05736	NULL
2260	13186236	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	82	pfam07679	NULL
2260	13186236	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	106	smart00408	NULL
2260	13186236	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	44	cd05723	NULL
2260	13186236	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	69	cd05732	NULL
2260	13186236	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	98	pfam07686	NULL
2260	13186236	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	58	cd04968	NULL
2260	13186236	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	55	cd05729	NULL
2260	13186236	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	179	smart00409	NULL
2260	13186236	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	179	smart00410	NULL
2260	13186251	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	231	smart00409	NULL
2260	13186251	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	231	smart00410	NULL
2260	13186251	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	74	cd05856	NULL
2260	13186251	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	77	cd05729	NULL
2260	13186251	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	77	cd05857	NULL
2260	13186251	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	86	cd05724	NULL
2260	13186251	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	73	cd05750	NULL
2260	13186251	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	105	pfam07679	NULL
2260	13186251	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	66	cd05745	NULL
2260	13186251	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	66	cd05763	NULL
2260	13186251	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	64	cd05725	NULL
2260	13186251	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	65	cd05736	NULL
2260	13186251	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	62	cd05876	NULL
2260	13186251	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	62	cd05731	NULL
2260	13186251	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	167	cd00096	NULL
2260	13186251	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	84	cd05737	NULL
2260	13186251	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	77	cd05728	NULL
2260	13186251	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	74	cd05765	NULL
2260	13186251	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	66	cd05723	NULL
2260	291327493	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	231	smart00409	NULL
2260	291327493	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	231	smart00410	NULL
2260	291327493	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	74	cd05856	NULL
2260	291327493	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	77	cd05729	NULL
2260	291327493	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	77	cd05857	NULL
2260	291327493	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	86	cd05724	NULL
2260	291327493	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	73	cd05750	NULL
2260	291327493	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	105	pfam07679	NULL
2260	291327493	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	66	cd05745	NULL
2260	291327493	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	66	cd05763	NULL
2260	291327493	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	64	cd05725	NULL
2260	291327493	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	65	cd05736	NULL
2260	291327493	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	62	cd05876	NULL
2260	291327493	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	62	cd05731	NULL
2260	291327493	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	167	cd00096	NULL
2260	291327493	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	84	cd05737	NULL
2260	291327493	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	77	cd05728	NULL
2260	291327493	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	74	cd05765	NULL
2260	291327493	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	66	cd05723	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	48	cd05737	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	46_G	cd05728	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	66	pfam07679	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	41	cd05856	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	44	cd05729	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	44	cd05857	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	151	smart00409	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	151	smart00410	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	33_G	cd05745	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	88	smart00408	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	40	cd05750	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	49	cd05724	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	33_G	cd05723	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	42	cd05765	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	41	pfam00047	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	29	cd05876	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	32	cd05731	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	31	cd05725	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	32	cd05736	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	85	cd00096	NULL
2260	291327497	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	33	cd05763	NULL
2260	13186234	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	80	pfam07679	NULL
2260	13186234	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	104	smart00408	NULL
2260	13186234	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	56	cd04968	NULL
2260	13186234	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	67	cd05732	NULL
2260	13186234	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	40	cd05725	NULL
2260	13186234	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	41	cd05736	NULL
2260	13186234	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	94	cd00096	NULL
2260	13186234	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	96	pfam07686	NULL
2260	13186234	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	50	cd05765	NULL
2260	13186234	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	55	cd04969	NULL
2260	13186234	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	74	pfam00047	NULL
2260	13186234	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	58	cd05858	NULL
2260	13186234	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	67	cd04974	NULL
2260	13186234	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	42	cd05723	NULL
2260	13186234	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	53	cd05729	NULL
2260	13186234	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	175	smart00409	NULL
2260	13186234	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	175	smart00410	NULL
2260	13186234	Disease	p.Gly237Ser	136350.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM||KALLMANN SYNDROME 2	OMIM	65	cd05869	NULL
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd06636	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd05057	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	305	cd05103	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	354	cd05054	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	303	cd05102	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd07845	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd06614	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd07878	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd07851	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd07850	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd06639	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280	cd07852	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	207	smart00750	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06648	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	367	cd05107	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	968	smart00220	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd08221	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	226	cd05577	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	217	cd05608	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	780	cd05579	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	220	cd05115	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	844	cd05123	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05047	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	301	cd05572	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	825	cd00180	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	213	cd05585	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd06917	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd06634	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd07877	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd05089	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd05061	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	226	cd05073	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd05070	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd05067	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05068	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	221	cd05082	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05034	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	219	cd05083	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd05039	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd05148	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	226	cd05072	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd06637	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd05036	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd05062	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd05032	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd07858	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd05056	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05052	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd07849	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd07864	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd07870	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd05071	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd05069	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	252	cd06638	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	258	cd05099	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05053	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd05100	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd06659	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd06658	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd07880	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd05101	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd06624	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd06656	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd06655	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd06607	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd06647	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd08223	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd06628	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	313	cd05122	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd07836	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd07863	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	220	cd07860	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	221	cd05615	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	380	cd06606	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd06626	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd08225	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd05045	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	373	cd07834	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd07857	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd07859	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	295	cd08215	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05614	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd06651	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd08222	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222	cd08218	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265_G	cd07854	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd08530	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd06627	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd07841	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd07853	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd06629	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd05583	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd05613	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251_G	cd08528	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd06646	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd06645	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd06635	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd06657	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd06625	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd07839	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	255	cd06652	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd08224	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd06653	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05043	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd07871	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd05630	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225_G	cd05632	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd05605	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05081	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd07865	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd06643	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd06611	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd06644	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd06618	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd06631	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd05584	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd06630	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06632	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd07844	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222_G	cd06640	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222_G	cd06641	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd06613	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222_G	cd06642	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd06608	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd06654	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	365	cd05105	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	304	cd07866	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05110	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05111	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd05112	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd05059	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd05113	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd05114	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd05088	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd05033	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05065	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	288	cd05038	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05079	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05066	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05108	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd06616	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05109	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	226	cd07831	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd07848	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	295	cd08217	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	336	cd07833	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	469_G	cd05581	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	393	cd07842	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd07846	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	331	cd07840	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	296	cd06623	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd06609	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd06621	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	294	cd06605	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd06615	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd07856	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd07862	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd07847	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222	cd07861	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	226	cd08229	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	221	cd08219	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	230	cd07872	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	221	cd05616	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	226	cd05587	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	230	cd07873	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06610	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd05580	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	230	cd08529	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	226	cd08228	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	230	cd06617	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd07832	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06622	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	252	cd06619	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd07837	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1111	COG0515	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd05612	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd07843	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	349	cd05104	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05091	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd05048	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05090	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd05049	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd05092	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	299	cd05096	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05097	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	311	cd05046	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	318	cd05051	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd05095	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	257	cd05050	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	290	cd06620	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05064	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05063	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	307	cd05094	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd05093	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	364	cd05055	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	220	cd05041	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05087	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd05042	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd05040	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	217	cd05085	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	218	cd05084	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd05044	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd05076	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05078	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	258	cd05037	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	481	cd00192	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05077	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	217	cd05602	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd07835	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd05588	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	220	cd05116	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05060	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	218	cd05582	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	216	cd05590	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	213	cd05619	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05570	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd05620	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05086	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05058	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd05593	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	216	cd05591	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd05603	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd08220	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd05592	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	216	cd05571	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd05617	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd05118	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	216	cd05594	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	347	cd05106	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	264	cd05098	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd05578	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	301	cd07838	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	974	smart00221	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd05080	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	658	smart00219	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	390	pfam00069	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	357	cd07830	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd06612	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	449	pfam07714	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	295	cd07829	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd05075	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd05074	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd05035	105990522,NP_075598
2260	120046	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	221	cd05589	105990522,NP_075598
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd07852	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd06639	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06656	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05101	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06647	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd07880	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06655	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd06624	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd06607	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd05098	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd07845	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd06614	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	351	cd05104	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	349	cd05106	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd05053	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd05100	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd06638	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd05099	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd07851	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd07878	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd07850	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	366	cd05055	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd07865	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd06643	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	352	cd07840	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	338	cd07833	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	470	cd05581	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	406	cd07842	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	297	cd08217	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd07831	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	252	cd07848	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd07846	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	307	cd05103	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	356	cd05054	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	305	cd05102	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd06636	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd05057	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	218	cd05594	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222	cd05116	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd05060	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd08220	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05086	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05058	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd07835	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05593	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	218	cd05591	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd05118	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd05570	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	220	cd05582	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	218	cd05590	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	215	cd05619	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd05592	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	218	cd05571	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd05617	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222	cd05041	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd05087	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05042	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd05040	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	219	cd05085	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	220	cd05084	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd05044	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd05603	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd05620	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	218	cd05602	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05588	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245_G	cd05076	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd05078	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd05037	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	483	cd00192	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232_G	cd05077	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd06651	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd08222	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd08218	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	306	cd08215	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd07836	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd07863	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222	cd07860	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd07853	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd05045	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd08223	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06628	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd07854	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237_G	cd07857	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	375	cd07834	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd07859	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	382	cd06606	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd06626	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd08225	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd08530	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd06627	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	305	cd07841	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd06629	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251_G	cd08528	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd05615	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05583	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd05613	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05614	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	315	cd05122	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd05578	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	369	cd05107	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd07837	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd06610	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd07862	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd07847	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd07861	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd06617	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1138	COG0515	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd06622	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd06615	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd07873	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	298	cd06623	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd07856	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd06619	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd08229	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd08219	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd06621	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	300	cd06605	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	288	cd05580	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd08529	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd08228	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	281	cd07832	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd05587	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd06609	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd05612	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd07872	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd05616	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd06635	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	299	cd07829	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05080	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	303	cd07838	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd05589	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd05075	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd05074	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd05035	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	976	smart00221	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	660	smart00219	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	392	pfam00069	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	359	cd07830	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd06612	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	451	pfam07714	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	367	cd05105	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	846	cd05123	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05047	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd08221	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222	cd05115	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	303	cd05572	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	827	cd00180	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	215	cd05585	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd06917	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	782	cd05579	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd05577	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	219	cd05608	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd06654	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd06659	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	292	cd06620	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	309	cd05094	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd05093	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05064	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05063	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd05049	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05092	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	301	cd05096	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd05097	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	313	cd05046	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	320	cd05051	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05095	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd05050	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd05091	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd05048	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd05090	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	208_G	smart00750	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05071	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd05052	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05056	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd05073	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05070	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd05067	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05068	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd05082	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05034	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	221	cd05083	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	230	cd05039	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05148	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd05072	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05069	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd07864	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224_G	cd07870	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd07858	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	255	cd07849	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06637	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05036	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd05062	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd05032	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd05089	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd05061	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd06646	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd06645	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	281	cd07843	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05033	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05065	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	290	cd05038	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd05079	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05066	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05108	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd06616	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05109	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	306	cd07866	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd05088	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd05112	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05059	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	226	cd05113	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd05114	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05110	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05111	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06644	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd06611	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd06618	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd06657	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd06648	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd08224	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd07871	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd05081	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	257	cd06652	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd06653	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd05043	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	230	cd05630	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05632	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05605	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232_G	cd06630	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd06631	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd06632	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	226	cd05584	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	993	smart00220	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06634	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd07877	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06658	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd06640	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd06641	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd06608	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd06642	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd07844	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd06613	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd07839	NULL
2260	291327489	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd06625	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd07839	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd06625	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd06638	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05100	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd05099	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd05053	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	smart00750	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	305	cd08217	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	360	cd07840	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283	cd07846	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd07831	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd07848	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	414	cd07842	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	347	cd07833	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	478	cd05581	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	258	cd06636	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	297	cd05057	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	315	cd05103	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	364	cd05054	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	313	cd05102	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd06614	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd07845	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd06618	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd06644	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd06611	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd07873	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd06622	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	281	cd06615	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd07856	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1146	COG0515	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05587	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd06610	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd07837	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd07862	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd07847	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd07861	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd08229	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd08219	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	258	cd05612	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd06621	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	315	cd06605	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd06617	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	298	cd05580	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd08529	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd08228	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd06619	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd07832	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd07872	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05616	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd06609	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	317	cd06623	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd06658	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	258	cd06616	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd05111	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd05110	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd05109	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	255	cd05088	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd05033	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd05065	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	304	cd05038	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	258	cd05079	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd05066	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05112	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05059	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd05113	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05114	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	319	cd07866	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd05108	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd06646	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd06645	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd06631	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd06632	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06630	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd05584	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd06652	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	258	cd05081	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd06653	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd07871	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd08224	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05630	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05632	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05605	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd05043	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06654	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd06643	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	297	cd07865	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	377	cd05107	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd06639	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd07850	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd07878	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	281	cd07851	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd05064	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd05063	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	258	cd05091	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd05048	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	258	cd05090	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	303	cd06620	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	317	cd05094	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd05093	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05049	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd05092	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	309	cd05096	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd05097	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	321	cd05046	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	328	cd05051	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	284	cd05095	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd05050	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd05075	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd05074	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	257	cd05035	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	307	cd07829	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	332	cd07838	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05589	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	984	smart00221	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd05080	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	677	smart00219	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	445	pfam00069	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	372	cd07830	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	255	cd06612	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	459	pfam07714	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd06656	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd06647	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	252	cd06607	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd05101	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06624	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd07880	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd06655	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	374	cd05055	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd06659	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd07844	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd06613	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd06642	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd06640	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd06641	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd06608	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	255	cd08528	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd07857	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd07853	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd07859	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd05583	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd05613	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	383	cd07834	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	314	cd08215	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05615	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd07854	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd08530	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd06627	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	313	cd07841	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	252	cd06629	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd07836	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd07863	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	230	cd07860	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd08223	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd06628	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd05045	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	406	cd06606	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	284	cd06626	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd08225	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd06651	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd08222	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd08218	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	330	cd05122	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd05614	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	375	cd05105	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd08221	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd05585	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05577	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05608	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	800	cd05579	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd05047	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06917	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	313	cd05572	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	835	cd00180	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	230	cd05115	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	881	cd05123	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd05089	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05073	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05070	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd05067	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd05068	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05082	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05034	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd05083	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05039	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd05148	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05072	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd07864	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd07870	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd07849	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05071	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd05056	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd06637	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd05036	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd05062	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302	cd05032	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05069	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd05052	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd07858	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd05061	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	294	cd07852	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd07843	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd06635	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd05578	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06657	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	357	cd05106	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05603	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd05582	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	226	cd05590	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222	cd05619	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd05570	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	257	cd07835	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd05592	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	226	cd05571	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05617	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd05118	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	230	cd05116	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd05060	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	230	cd05041	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd05087	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd05042	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd05040	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05085	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd05084	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd05044	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05593	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd08220	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd05086	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd05058	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	226	cd05594	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	252	cd05076	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd05078	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd05037	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	497	cd00192	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd05077	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd05620	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	226	cd05602	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	226	cd05591	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05588	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd06648	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	264	cd07877	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd06634	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	359	cd05104	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd05098	NULL
2260	291327491	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1185	smart00220	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	316	cd05589	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	315	cd05584	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	303	cd05585	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1403	COG0515	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	317	cd05587	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	331	cd06622	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	300	cd07872	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	312	cd05616	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	326	cd07856	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	320	cd05614	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	313	cd05615	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	383	cd07853	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	326	cd05592	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	304	cd05571	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	316	cd05617	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	320	cd05588	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	311	cd05620	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	310	cd05591	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	306	cd05582	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	311	cd05590	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	296	cd05619	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	350	cd07849	NULL
2260	291327495	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	340	cd07858	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	322	cd05588	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	313	cd05620	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	310	cd05582	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	313	cd05590	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	298	cd05619	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	312	cd05591	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	328	cd05592	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	306	cd05571	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	318	cd05617	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	323	cd05614	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	315	cd05615	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	385	cd07853	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	358	cd07849	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	342	cd07858	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	318	cd05589	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302	cd07872	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	314	cd05616	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	319	cd05587	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	333	cd06622	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1405	COG0515	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	317	cd05584	NULL
2260	13186236	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	305	cd05585	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd07852	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd06639	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06656	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05101	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06647	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd07880	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06655	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd06624	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd06607	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd05098	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd07845	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd06614	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	351	cd05104	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	349	cd05106	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd05053	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd05100	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd06638	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd05099	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd07851	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd07878	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd07850	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	366	cd05055	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd07865	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd06643	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	352	cd07840	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	338	cd07833	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	470	cd05581	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	406	cd07842	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	297	cd08217	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd07831	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	252	cd07848	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd07846	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	307	cd05103	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	356	cd05054	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	305	cd05102	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd06636	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd05057	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	218	cd05594	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222	cd05116	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd05060	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd08220	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05086	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05058	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd07835	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05593	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	218	cd05591	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd05118	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd05570	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	220	cd05582	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	218	cd05590	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	215	cd05619	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd05592	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	218	cd05571	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd05617	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222	cd05041	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd05087	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05042	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd05040	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	219	cd05085	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	220	cd05084	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd05044	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd05603	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd05620	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	218	cd05602	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05588	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245_G	cd05076	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd05078	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd05037	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	483	cd00192	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232_G	cd05077	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd06651	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd08222	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd08218	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	306	cd08215	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd07836	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd07863	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222	cd07860	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd07853	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd05045	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd08223	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06628	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd07854	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237_G	cd07857	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	375	cd07834	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd07859	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	382	cd06606	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd06626	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd08225	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd08530	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd06627	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	305	cd07841	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd06629	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251_G	cd08528	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd05615	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05583	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd05613	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05614	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	315	cd05122	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd05578	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	369	cd05107	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd07837	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd06610	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd07862	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd07847	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd07861	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd06617	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1138	COG0515	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd06622	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd06615	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd07873	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	298	cd06623	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd07856	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd06619	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd08229	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd08219	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd06621	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	300	cd06605	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	288	cd05580	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd08529	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd08228	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	281	cd07832	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd05587	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd06609	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd05612	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd07872	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd05616	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd06635	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	299	cd07829	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05080	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	303	cd07838	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd05589	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd05075	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd05074	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd05035	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	976	smart00221	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	660	smart00219	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	392	pfam00069	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	359	cd07830	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd06612	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	451	pfam07714	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	367	cd05105	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	846	cd05123	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05047	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd08221	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222	cd05115	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	303	cd05572	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	827	cd00180	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	215	cd05585	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd06917	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	782	cd05579	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd05577	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	219	cd05608	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd06654	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd06659	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	292	cd06620	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	309	cd05094	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd05093	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05064	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05063	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd05049	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05092	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	301	cd05096	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd05097	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	313	cd05046	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	320	cd05051	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05095	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd05050	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd05091	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd05048	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd05090	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	208_G	smart00750	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05071	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd05052	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05056	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd05073	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05070	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd05067	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05068	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd05082	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05034	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	221	cd05083	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	230	cd05039	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05148	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd05072	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05069	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd07864	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224_G	cd07870	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd07858	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	255	cd07849	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06637	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05036	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd05062	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd05032	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd05089	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd05061	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd06646	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd06645	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	281	cd07843	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05033	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05065	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	290	cd05038	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd05079	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05066	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05108	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd06616	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05109	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	306	cd07866	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd05088	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd05112	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05059	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	226	cd05113	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd05114	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05110	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05111	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06644	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd06611	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd06618	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd06657	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd06648	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd08224	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd07871	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd05081	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	257	cd06652	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd06653	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd05043	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	230	cd05630	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05632	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05605	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232_G	cd06630	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd06631	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd06632	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	226	cd05584	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	993	smart00220	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06634	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd07877	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06658	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd06640	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd06641	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd06608	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd06642	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd07844	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd06613	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd07839	NULL
2260	13186251	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd06625	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd07852	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd06639	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06656	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05101	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06647	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd07880	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06655	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd06624	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd06607	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd05098	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd07845	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd06614	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	351	cd05104	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	349	cd05106	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd05053	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd05100	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd06638	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd05099	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd07851	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd07878	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd07850	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	366	cd05055	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd07865	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd06643	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	352	cd07840	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	338	cd07833	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	470	cd05581	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	406	cd07842	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	297	cd08217	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd07831	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	252	cd07848	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd07846	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	307	cd05103	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	356	cd05054	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	305	cd05102	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd06636	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd05057	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	218	cd05594	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222	cd05116	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd05060	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd08220	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05086	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05058	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd07835	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05593	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	218	cd05591	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd05118	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd05570	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	220	cd05582	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	218	cd05590	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	215	cd05619	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd05592	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	218	cd05571	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd05617	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222	cd05041	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd05087	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05042	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd05040	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	219	cd05085	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	220	cd05084	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd05044	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd05603	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd05620	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	218	cd05602	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05588	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245_G	cd05076	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd05078	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd05037	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	483	cd00192	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232_G	cd05077	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd06651	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd08222	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd08218	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	306	cd08215	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd07836	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd07863	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222	cd07860	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd07853	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd05045	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd08223	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06628	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd07854	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237_G	cd07857	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	375	cd07834	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd07859	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	382	cd06606	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd06626	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd08225	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd08530	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd06627	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	305	cd07841	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd06629	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251_G	cd08528	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd05615	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05583	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd05613	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05614	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	315	cd05122	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd05578	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	369	cd05107	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd07837	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd06610	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd07862	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd07847	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd07861	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd06617	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1138	COG0515	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd06622	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd06615	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd07873	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	298	cd06623	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd07856	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd06619	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd08229	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd08219	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd06621	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	300	cd06605	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	288	cd05580	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd08529	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd08228	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	281	cd07832	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd05587	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd06609	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd05612	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd07872	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd05616	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd06635	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	299	cd07829	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05080	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	303	cd07838	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd05589	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd05075	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd05074	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd05035	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	976	smart00221	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	660	smart00219	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	392	pfam00069	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	359	cd07830	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd06612	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	451	pfam07714	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	367	cd05105	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	846	cd05123	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05047	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd08221	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222	cd05115	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	303	cd05572	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	827	cd00180	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	215	cd05585	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd06917	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	782	cd05579	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd05577	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	219	cd05608	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd06654	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd06659	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	292	cd06620	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	309	cd05094	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd05093	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05064	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05063	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd05049	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05092	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	301	cd05096	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd05097	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	313	cd05046	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	320	cd05051	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05095	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd05050	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd05091	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd05048	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd05090	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	208_G	smart00750	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05071	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd05052	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05056	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd05073	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05070	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd05067	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05068	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd05082	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05034	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	221	cd05083	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	230	cd05039	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05148	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd05072	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05069	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd07864	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224_G	cd07870	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd07858	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	255	cd07849	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06637	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05036	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd05062	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd05032	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd05089	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd05061	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd06646	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd06645	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	281	cd07843	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05033	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05065	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	290	cd05038	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd05079	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05066	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05108	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd06616	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05109	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	306	cd07866	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd05088	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd05112	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05059	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	226	cd05113	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd05114	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05110	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05111	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06644	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd06611	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd06618	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd06657	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd06648	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd08224	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd07871	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd05081	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	257	cd06652	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd06653	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd05043	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	230	cd05630	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05632	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05605	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232_G	cd06630	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd06631	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd06632	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	226	cd05584	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	993	smart00220	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd06634	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd07877	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06658	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd06640	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd06641	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd06608	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd06642	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd07844	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd06613	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd07839	NULL
2260	291327493	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd06625	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	202	cd05578	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	200	cd06630	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	217	cd06632	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	195	cd05584	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	201	cd06631	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd06639	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd07843	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	220	cd07852	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	215	cd06635	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	202	cd05108	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd07866	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	202	cd05110	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	192	cd05112	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	194	cd05059	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	193	cd05113	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	192	cd05114	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	202	cd05111	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	214	cd05088	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05033	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	202	cd05065	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd05038	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	203	cd05079	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	200	cd05066	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	209	cd06616	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	202	cd05109	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	207	cd06654	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	201	cd06625	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	191	cd07839	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	333	cd05105	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	192	cd06642	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	192	cd06640	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	192	cd06641	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	200	cd06613	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	196	cd07844	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240_G	cd06608	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	209	cd06658	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	209	cd07857	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	200	cd05583	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	212	cd05613	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	195	cd07836	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	201	cd07863	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	192	cd07860	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222	cd07854	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	204	cd07859	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280	cd07834	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	337	cd06606	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd06626	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	193	cd08225	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd08215	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	193	cd08223	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	207	cd06628	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	199	cd08530	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd06627	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd07841	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05122	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	197	cd07853	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	198	cd05614	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	214	cd08528	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	207	cd06629	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	200	cd06651	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	197	cd08222	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	192	cd08218	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	220	cd05045	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	192	cd05615	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	735	cd05579	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	202	cd05047	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	192	cd05577	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	188	cd05608	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd05572	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	676	cd00180	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	803	cd05123	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	189	cd05115	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	205	cd06917	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	195	cd08221	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	184	cd05585	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	219	cd07835	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	187	cd05603	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	187	cd05588	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	189	cd05570	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	187	cd05594	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	189	cd05041	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	205	cd05087	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	204	cd05042	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	204	cd05040	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	186	cd05085	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	187	cd05084	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	210	cd05044	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	189	cd05116	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	196	cd05060	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	187	cd05591	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	213	cd05076	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	198	cd05078	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222	cd05037	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	429	cd00192	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	200	cd05077	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	203	cd05592	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	187	cd05571	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	187	cd05617	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	202	cd05620	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	186	cd05593	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	201	cd08220	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	187	cd05602	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	200	cd05086	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	200	cd05058	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	204	cd05118	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	189	cd05582	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	187	cd05590	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	187	cd05619	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	208	cd06659	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	339	cd07842	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	194	cd07846	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	198	cd07831	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	221	cd07848	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd07840	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd07833	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	442	cd05581	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	264	cd08217	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	200	cd06646	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	200	cd06645	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	211	cd07837	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	201	cd07862	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	199	cd07847	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	194	cd07861	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	214	cd07832	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd06623	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	196	cd07873	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	200	cd06621	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	215	cd06605	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	196	cd07872	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	192	cd05616	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	197	cd07856	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	199	cd06617	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	189	cd05612	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	215	cd06610	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	197	cd08229	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	191	cd08219	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222	cd06609	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	216	cd06622	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	191	cd06615	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	917	COG0515	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd05580	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	197	cd08529	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	197	cd08228	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	205	cd06619	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	197	cd05587	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	785	smart00220	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	225	cd05049	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	215	cd05092	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd05096	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd05097	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd05046	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05051	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd05095	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	226	cd05050	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	200	cd05064	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	202	cd05063	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	197	cd06620	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd05094	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	213	cd05093	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	217	cd05091	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	220	cd05048	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	217	cd05090	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	315	cd05106	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	209	cd07877	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	205	cd06634	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	222	cd07865	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	199	cd06643	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	198	cd08224	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	195	cd07871	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	192	cd05630	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	192	cd05632	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	192	cd05605	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	202	cd05081	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05043	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	200	cd06653	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd06652	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	335	cd05107	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd05103	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	322	cd05054	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd05102	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd05057	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	217	cd06636	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd05053	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05100	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05099	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	220	cd06638	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05098	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	205	cd07858	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	194	cd05071	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	207	cd06637	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	215	cd05036	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	212	cd05062	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	257	cd05032	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	212	cd07864	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	195	cd07870	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	216	cd07849	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	213	cd05061	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	209	cd05089	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	230	cd05056	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	196	cd05052	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	194	cd05069	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	195	cd05073	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	194	cd05070	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	194	cd05067	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	200	cd05068	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	190	cd05082	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	205	cd05034	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	197	cd05039	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	188	cd05083	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	197	cd05148	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	195	cd05072	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	182	smart00750	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	212	cd07850	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	207	cd07878	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd07851	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	332	cd05055	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	317	cd05104	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	215	cd07845	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd06614	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	207	cd06648	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	857	smart00221	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	201	cd05080	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd07838	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	220	cd05075	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	206	cd05074	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	216	cd05035	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	581	smart00219	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	343	pfam00069	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd07830	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	211	cd06612	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	388	pfam07714	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	192	cd05589	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd07829	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	207	cd06657	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	206	cd06644	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	214	cd06618	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	201	cd06611	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	206	cd06647	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	207	cd06624	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	205	cd06607	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	230	cd05101	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	207	cd07880	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	206	cd06656	NULL
2260	291327497	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	206	cd06655	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	316	cd05589	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	315	cd05584	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	303	cd05585	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1403	COG0515	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	317	cd05587	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	331	cd06622	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	300	cd07872	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	312	cd05616	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	326	cd07856	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	320	cd05614	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	313	cd05615	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	383	cd07853	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	326	cd05592	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	304	cd05571	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	316	cd05617	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	320	cd05588	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	311	cd05620	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	310	cd05591	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	306	cd05582	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	311	cd05590	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	296	cd05619	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	350	cd07849	NULL
2260	13186234	Disease	p.Pro722His	136350.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	340	cd07858	NULL
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10_G	cd07845	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	14_G	cd06614	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd07878	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd07851	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd07850	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	14	cd06639	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd06648	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	31	cd05107	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	14	cd06634	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	12	cd07877	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	6	cd06638	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	6	cd05099	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	6	cd05053	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	6	cd05100	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	20	cd06659	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	21	cd06658	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd07880	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd05101	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10_G	cd06624	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd06656	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd06655	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd06607	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd06647	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd06646	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd06645	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	24	cd06635	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	19	cd06657	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	7	cd07865	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	6	cd06643	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd06611	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd06644	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd06618	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd06654	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	31	cd05105	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	29	cd05104	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	31	cd05055	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	32	cd05106	105990522,NP_075598
2260	120046	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	12	cd05098	105990522,NP_075598
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	16	cd06639	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd06656	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd05101	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd06647	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	12	cd07880	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd06655	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10_G	cd06624	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd06607	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	14	cd05098	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd07845	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	15	cd06614	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	31	cd05104	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	34	cd05106	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05053	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05100	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	14	cd06638	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05099	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	12	cd07851	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	12	cd07878	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	13	cd07850	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	33	cd05055	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd07865	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd06643	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd05103	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd05054	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd05102	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd06636	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd05057	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	33	cd05107	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	26	cd06635	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	33	cd05105	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	12	cd06654	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	22	cd06659	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05071	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05052	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05056	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05073	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05070	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05067	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05068	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05082	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05034	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05083	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05039	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05148	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05072	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05069	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd07864	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd07870	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd07858	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd07849	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd06637	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05036	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05062	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05032	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05089	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05061	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd06646	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd06645	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	7	cd06644	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd06611	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd06618	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	21	cd06657	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	7	cd06648	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	16	cd06634	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	14	cd07877	NULL
2260	291327489	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	23	cd06658	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	22	cd06638	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	16	cd05100	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	16	cd05099	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	16	cd05053	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd08217	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd07840	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	6	cd07846	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd07831	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	6	cd07848	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd07842	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	6	cd07833	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd05581	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd06636	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd05057	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd05103	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd05054	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd05102	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	23	cd06614	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	14_G	cd07845	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	19	cd06618	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	17	cd06644	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	12_G	cd06611	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd07873	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd06622	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd06615	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	14	cd07856	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	43	COG0515	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd05587	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd06610	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd07837	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd07862	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd07847	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd07861	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	6	cd08229	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd08219	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd05612	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd06621	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd06605	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd06617	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd05580	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd08529	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	6	cd08228	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd06619	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd07832	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd07872	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd05616	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd06609	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd06623	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	29	cd06658	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd06616	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd05111	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd05110	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd05109	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd05088	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05033	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05065	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05038	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05079	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05066	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05112	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05059	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05113	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05114	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	14	cd07866	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd05108	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	13	cd06646	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	13	cd06645	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	6	cd06652	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05081	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	6	cd06653	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd07871	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	6	cd08224	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05630	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05632	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05605	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd05043	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	24	cd06654	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd06643	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	16	cd07865	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	41	cd05107	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	26	cd06639	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	20	cd07850	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	19	cd07878	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	19	cd07851	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd05064	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd05063	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd05091	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd05048	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd05090	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd06620	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd05094	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd05093	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd05049	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd05092	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd05096	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd05097	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd05046	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd05051	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd05095	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd05050	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd05075	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd05074	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd05035	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd07829	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd07838	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd05589	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	smart00221	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05080	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	smart00219	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	pfam00069	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd07830	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd06612	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	pfam07714	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	23	cd06656	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	23	cd06647	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	19	cd06607	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	19	cd05101	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	16	cd06624	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	19	cd07880	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	23	cd06655	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	41	cd05055	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	28	cd06659	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd07844	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	7	cd06613	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd06642	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd06640	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd06641	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd06608	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd08528	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd07857	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd07853	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd07859	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd05583	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd05613	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd07834	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd08215	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd05615	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd07854	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd08530	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd06627	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd07841	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd06629	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd07836	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd07863	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd07860	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd08223	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd06628	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd05045	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd06606	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd06626	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd08225	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	6	cd06651	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd08222	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd08218	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd05122	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd05614	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	41	cd05105	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	6	cd05089	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd05073	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd05070	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd05067	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd05068	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd05082	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd05034	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd05083	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd05039	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd05148	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd05072	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd07864	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd07870	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd07849	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd05071	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd05056	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd06637	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd05036	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd05062	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd05032	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd05069	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd05052	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd07858	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10	cd05061	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	33_G	cd06635	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	27	cd06657	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	42	cd05106	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	23	cd06648	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	22	cd07877	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	23_G	cd06634	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	39	cd05104	NULL
2260	291327491	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	22	cd05098	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd06625	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd07839	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05108	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05088	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05109	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	106	cd05033	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd05065	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	95	cd05038	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05079	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd05066	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05111	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05110	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd05112	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd05059	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd05113	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd05114	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd06616	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd07866	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	107	cd07851	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	99	cd07850	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	88	cd07878	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	101	cd05098	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	369	smart00221	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd05589	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05080	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd05075	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd05074	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	94	cd05035	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	104	cd07829	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	101	cd07838	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	smart00219	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	133	pfam00069	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	117	cd07830	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	88	cd06612	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	128	pfam07714	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd08224	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05630	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05632	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05605	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd07871	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd05081	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd06653	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd06652	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	109	cd05043	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	116	cd05104	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	89	cd07865	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd06643	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	95	cd05053	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	95	cd05100	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	95	cd05099	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	97	cd06638	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd07845	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	107	cd06614	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd05049	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd05092	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	96	cd05096	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	96	cd05097	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	145	cd05046	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	119	cd05051	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	99	cd05095	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05050	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd05094	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd05093	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd05064	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd05063	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd06620	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05091	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd05048	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd05090	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	118	cd05107	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05578	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	108	cd06639	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	89	cd05103	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	89	cd05054	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	89	cd05102	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	96	cd06636	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	135	cd05057	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	96	cd06658	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	93	cd06648	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd06630	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd05584	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	96	cd06632	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd06631	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	72	cd05579	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	59	cd05577	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	70	cd05608	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	111	cd05123	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd08221	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	119	cd05572	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd00180	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05047	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd06917	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	71	cd05115	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	70	cd05585	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd06646	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd06645	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	93	cd06655	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd06624	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	93	cd06647	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	92	cd06607	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	91	cd07880	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	98	cd05101	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	93	cd06656	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd07873	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd06621	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd06605	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05612	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	425	COG0515	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	97	cd06619	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd06615	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd08229	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd08219	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd07862	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd07847	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd07861	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	90	cd07837	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	101	cd06623	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd05587	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd06622	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd07872	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05616	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd06610	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	92	cd06609	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	89	cd07832	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd07856	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd06617	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	126	cd05580	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd08529	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd08228	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd06642	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd07844	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd06640	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd06641	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd06613	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	116	cd06608	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	91	cd07843	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	94	cd06657	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	300	smart00220	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd06629	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd06651	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd08222	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd08218	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	152	cd06606	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd06626	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd08225	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd05614	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	120	cd07834	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd05045	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd05583	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd05613	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd07836	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd07863	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd07860	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05615	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd08223	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd06628	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd07853	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd08530	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd06627	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	92	cd07841	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	103	cd08215	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	95	cd08528	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	71	cd07857	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	101	cd05122	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd07854	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd07859	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd06644	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd06611	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	91	cd06618	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	118	cd05105	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	120	cd05106	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd07852	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	92	cd06634	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	90	cd07877	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	173	cd07842	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	99	cd07833	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	129	cd05581	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd07831	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	106	cd07848	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd07846	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	120	cd07840	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd08217	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	118	cd05055	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	95	cd06659	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	72	cd05594	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05592	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	72	cd05571	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05617	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	71	cd05041	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	72	cd05087	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd05042	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05040	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	70	cd05085	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	70	cd05084	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd05044	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05118	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05602	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd08220	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05588	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05620	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05591	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	72	cd05593	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	72	cd05116	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05060	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd07835	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05603	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	93	cd05076	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd05078	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	93	cd05037	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	139	cd00192	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd05077	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd05570	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	72	cd05086	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd05058	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd05582	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05590	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05619	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	74_G	cd07849	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd06637	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd05036	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd05062	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	119	cd05032	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd05089	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	112	cd05056	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd05052	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05069	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05073	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05070	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05067	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05068	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05082	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05034	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd05083	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd05039	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd05148	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05072	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	72_G	cd07858	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05071	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd07864	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd07870	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd05061	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	102	cd06635	NULL
2260	291327495	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	94	cd06654	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd05118	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	74	cd05086	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd05058	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd05588	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd05620	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05041	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	74	cd05087	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05042	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd05040	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	72	cd05085	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	72	cd05084	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05044	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05582	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd05590	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd05619	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd05591	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd08220	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	74	cd05593	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd05603	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd05602	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05570	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd05592	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	74	cd05571	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd05617	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	74	cd05116	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd05060	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	95	cd05076	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05078	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	95	cd05037	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	141	cd00192	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd05077	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	74	cd05594	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd07835	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd05081	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd07871	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd05630	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd05632	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd05605	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd06653	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd06652	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	111	cd05043	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd08224	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	95	cd06647	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	95	cd06656	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	93	cd07880	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	95	cd06655	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	94	cd06607	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	89	cd06624	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	100	cd05101	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	120	cd05055	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	96	cd06654	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd07839	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd06625	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd08530	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd06627	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	94	cd07841	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd07859	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd05614	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd08223	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd06628	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd05045	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd05615	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	154	cd06606	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd06626	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd08225	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd06651	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd08222	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd08218	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd07854	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	97	cd08528	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd05583	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd05613	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd07853	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd07857	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	103	cd05122	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	122	cd07834	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd06629	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	105	cd08215	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd07836	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	89	cd07863	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd07860	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	120	cd05105	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	95	cd06648	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd05578	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	93	cd06618	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	88	cd06644	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd06611	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	110	cd06639	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd06613	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	118	cd06608	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd06640	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd06641	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd07844	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd06642	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	118	cd05104	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd05052	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd07849	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd05071	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	88	cd06637	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	88	cd05036	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	88	cd05062	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	121	cd05032	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	88	cd05061	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd05073	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd05070	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd05067	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd05068	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd05082	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd05034	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05083	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd05039	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd05148	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd05072	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd05089	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd07864	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd07870	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	74	cd07858	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd05069	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	114	cd05056	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	98	cd06658	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	103	cd05098	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05064	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd05063	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd05094	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd05093	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd06620	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd05091	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	88	cd05048	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd05090	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	89	cd05049	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd05092	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	98	cd05096	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	98	cd05097	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	147	cd05046	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	121	cd05051	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	101	cd05095	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd05050	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	96	cd06657	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd06646	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd06645	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	122	cd05106	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	93	cd07843	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	91	cd05103	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	91	cd05054	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	91	cd05102	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	98	cd06636	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	137	cd05057	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	91	cd07865	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd06643	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	103	cd07838	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05075	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd05074	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	96	cd05035	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	106	cd07829	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	smart00219	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	135	pfam00069	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	119	cd07830	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	90	cd06612	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	130	pfam07714	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd05589	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	371	smart00221	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd05080	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	99	cd06619	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd06615	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	128	cd05580	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd08529	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd08228	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd07872	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd05616	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd05612	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	103	cd06623	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05587	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	91	cd07832	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd06622	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	92	cd07837	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd08229	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd08219	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd06617	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	94	cd06609	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	427	COG0515	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd07873	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd06610	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	89	cd07856	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	88	cd07862	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd07847	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd07861	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd06621	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd06605	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302	smart00220	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	89	cd07852	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	97	cd06659	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	120	cd05107	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd07846	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	101	cd07833	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	131	cd05581	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd08217	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	122	cd07840	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd07831	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	108	cd07848	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	175	cd07842	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	109	cd06614	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd07845	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	104	cd06635	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	101	cd07850	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	109	cd07851	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	90	cd07878	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	98	cd06632	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd06631	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd05584	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd06630	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	97	cd05099	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	99	cd06638	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	97	cd05100	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	97	cd05053	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	92	cd07877	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	94	cd06634	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05115	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	74	cd05579	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd05047	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd06917	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	61	cd05577	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	72	cd05608	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd08221	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	72	cd05585	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	121	cd05572	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd00180	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	113	cd05123	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd07866	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	108	cd05033	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd05065	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	97	cd05038	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd05079	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd05066	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	89	cd06616	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd05111	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd05110	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05112	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05059	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05113	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05114	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd05109	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd05088	NULL
2260	13186236	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd05108	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	16	cd06639	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd06656	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd05101	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd06647	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	12	cd07880	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd06655	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10_G	cd06624	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd06607	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	14	cd05098	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd07845	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	15	cd06614	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	31	cd05104	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	34	cd05106	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05053	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05100	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	14	cd06638	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05099	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	12	cd07851	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	12	cd07878	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	13	cd07850	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	33	cd05055	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd07865	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd06643	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd05103	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd05054	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd05102	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd06636	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd05057	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	33	cd05107	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	26	cd06635	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	33	cd05105	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	12	cd06654	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	22	cd06659	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05071	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05052	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05056	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05073	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05070	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05067	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05068	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05082	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05034	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05083	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05039	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05148	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05072	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05069	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd07864	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd07870	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd07858	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd07849	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd06637	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05036	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05062	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05032	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05089	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05061	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd06646	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd06645	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	7	cd06644	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd06611	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd06618	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	21	cd06657	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	7	cd06648	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	16	cd06634	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	14	cd07877	NULL
2260	13186251	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	23	cd06658	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	16	cd06639	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd06656	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd05101	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd06647	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	12	cd07880	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd06655	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	10_G	cd06624	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd06607	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	14	cd05098	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd07845	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	15	cd06614	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	31	cd05104	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	34	cd05106	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05053	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05100	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	14	cd06638	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd05099	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	12	cd07851	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	12	cd07878	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	13	cd07850	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	33	cd05055	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	9	cd07865	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd06643	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd05103	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd05054	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd05102	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd06636	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd05057	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	33	cd05107	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	26	cd06635	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	33	cd05105	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	12	cd06654	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	22	cd06659	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05071	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05052	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05056	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05073	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05070	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05067	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05068	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05082	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05034	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05083	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05039	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05148	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05072	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05069	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd07864	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd07870	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd07858	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd07849	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd06637	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05036	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05062	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05032	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05089	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	2	cd05061	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd06646	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	5	cd06645	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	7	cd06644	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	8	cd06611	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	11	cd06618	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	21	cd06657	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	7	cd06648	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	16	cd06634	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	14	cd07877	NULL
2260	291327493	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	23	cd06658	NULL
2260	291327497	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd06625	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd07839	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05108	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05088	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05109	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	106	cd05033	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd05065	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	95	cd05038	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05079	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd05066	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05111	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05110	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd05112	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd05059	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd05113	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd05114	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd06616	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd07866	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	107	cd07851	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	99	cd07850	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	88	cd07878	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	101	cd05098	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	369	smart00221	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd05589	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05080	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd05075	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd05074	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	94	cd05035	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	104	cd07829	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	101	cd07838	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	smart00219	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	133	pfam00069	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	117	cd07830	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	88	cd06612	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	128	pfam07714	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd08224	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05630	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05632	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05605	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd07871	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd05081	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd06653	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd06652	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	109	cd05043	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	116	cd05104	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	89	cd07865	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd06643	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	95	cd05053	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	95	cd05100	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	95	cd05099	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	97	cd06638	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd07845	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	107	cd06614	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd05049	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd05092	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	96	cd05096	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	96	cd05097	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	145	cd05046	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	119	cd05051	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	99	cd05095	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05050	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd05094	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd05093	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd05064	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd05063	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd06620	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05091	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd05048	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd05090	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	118	cd05107	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05578	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	108	cd06639	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	89	cd05103	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	89	cd05054	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	89	cd05102	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	96	cd06636	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	135	cd05057	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	96	cd06658	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	93	cd06648	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd06630	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd05584	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	96	cd06632	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd06631	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	72	cd05579	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	59	cd05577	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	70	cd05608	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	111	cd05123	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd08221	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	119	cd05572	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd00180	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05047	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd06917	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	71	cd05115	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	70	cd05585	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd06646	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd06645	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	93	cd06655	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd06624	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	93	cd06647	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	92	cd06607	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	91	cd07880	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	98	cd05101	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	93	cd06656	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd07873	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd06621	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd06605	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05612	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	425	COG0515	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	97	cd06619	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd06615	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd08229	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd08219	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd07862	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd07847	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd07861	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	90	cd07837	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	101	cd06623	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd05587	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd06622	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd07872	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05616	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd06610	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	92	cd06609	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	89	cd07832	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd07856	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd06617	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	126	cd05580	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd08529	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd08228	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd06642	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd07844	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd06640	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd06641	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd06613	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	116	cd06608	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	91	cd07843	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	94	cd06657	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	300	smart00220	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd06629	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd06651	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd08222	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd08218	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	152	cd06606	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd06626	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd08225	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd05614	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	120	cd07834	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd05045	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd05583	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd05613	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd07836	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd07863	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd07860	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05615	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd08223	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd06628	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd07853	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd08530	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd06627	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	92	cd07841	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	103	cd08215	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	95	cd08528	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	71	cd07857	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	101	cd05122	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd07854	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd07859	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd06644	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd06611	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	91	cd06618	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	118	cd05105	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	120	cd05106	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	87	cd07852	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	92	cd06634	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	90	cd07877	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	173	cd07842	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	99	cd07833	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	129	cd05581	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd07831	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	106	cd07848	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd07846	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	120	cd07840	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd08217	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	118	cd05055	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	95	cd06659	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	72	cd05594	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05592	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	72	cd05571	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05617	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	71	cd05041	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	72	cd05087	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd05042	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05040	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	70	cd05085	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	70	cd05084	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd05044	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	85	cd05118	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05602	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd08220	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05588	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05620	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05591	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	72	cd05593	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	72	cd05116	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05060	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	83	cd07835	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05603	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	93	cd05076	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	76	cd05078	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	93	cd05037	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	139	cd00192	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd05077	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd05570	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	72	cd05086	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd05058	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd05582	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05590	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05619	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	74_G	cd07849	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd06637	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd05036	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd05062	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	119	cd05032	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd05089	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	112	cd05056	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	79	cd05052	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05069	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05073	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05070	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05067	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05068	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05082	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05034	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd05083	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	81	cd05039	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd05148	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05072	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	72_G	cd07858	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	77	cd05071	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	cd07864	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd07870	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	86	cd05061	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	102	cd06635	NULL
2260	13186234	Disease	p.Arg470Leu	136350.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	94	cd06654	NULL
2260	120046	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	113	pfam07686	105990522,NP_075598
2260	120046	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	72	cd04968	105990522,NP_075598
2260	120046	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	58	cd05723	105990522,NP_075598
2260	120046	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	96	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	83	cd05732	105990522,NP_075598
2260	120046	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	57	cd05736	105990522,NP_075598
2260	120046	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	56	cd05725	105990522,NP_075598
2260	120046	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	126	cd00096	105990522,NP_075598
2260	120046	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	201	smart00409	105990522,NP_075598
2260	120046	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	201	smart00410	105990522,NP_075598
2260	120046	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	69	cd05729	105990522,NP_075598
2260	120046	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	121	smart00408	105990522,NP_075598
2260	120046	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	81	cd05869	105990522,NP_075598
2260	120046	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	74	cd05858	105990522,NP_075598
2260	120046	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	91	cd04974	105990522,NP_075598
2260	120046	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	91	pfam00047	105990522,NP_075598
2260	120046	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	66	cd05765	105990522,NP_075598
2260	120046	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	71	cd04969	105990522,NP_075598
2260	291327489	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	113	pfam07686	NULL
2260	291327489	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	72	cd04968	NULL
2260	291327489	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	58	cd05723	NULL
2260	291327489	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	96	pfam07679	NULL
2260	291327489	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	57	cd05736	NULL
2260	291327489	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	56	cd05725	NULL
2260	291327489	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	126	cd00096	NULL
2260	291327489	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	83	cd05732	NULL
2260	291327489	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	201	smart00409	NULL
2260	291327489	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	201	smart00410	NULL
2260	291327489	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	69	cd05729	NULL
2260	291327489	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	121	smart00408	NULL
2260	291327489	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	81	cd05869	NULL
2260	291327489	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	74	cd05858	NULL
2260	291327489	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	91	cd04974	NULL
2260	291327489	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	91	pfam00047	NULL
2260	291327489	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	66	cd05765	NULL
2260	291327489	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	71	cd04969	NULL
2260	291327491	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	66	cd05723	NULL
2260	291327491	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	77	cd05729	NULL
2260	291327491	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	smart00409	NULL
2260	291327491	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	smart00410	NULL
2260	291327491	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	89	cd05869	NULL
2260	291327491	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	74	cd05765	NULL
2260	291327491	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	79	cd04969	NULL
2260	291327491	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	82	cd05858	NULL
2260	291327491	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	101	cd04974	NULL
2260	291327491	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	105	pfam07679	NULL
2260	291327491	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	64	cd05725	NULL
2260	291327491	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	65	cd05736	NULL
2260	291327491	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	167	cd00096	NULL
2260	291327491	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	137	pfam07686	NULL
2260	291327491	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	80	cd04968	NULL
2260	291327491	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	91	cd05732	NULL
2260	291327495	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	No Domain	N/A	NULL
2260	13186236	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	No Domain	N/A	NULL
2260	13186251	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	71	cd05729	NULL
2260	13186251	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	206	smart00409	NULL
2260	13186251	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	206	smart00410	NULL
2260	13186251	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	68	cd05765	NULL
2260	13186251	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	73	cd04969	NULL
2260	13186251	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	76	cd05858	NULL
2260	13186251	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	93	cd04974	NULL
2260	13186251	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	58	cd05725	NULL
2260	13186251	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	59	cd05736	NULL
2260	13186251	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	128	cd00096	NULL
2260	13186251	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	123	smart00408	NULL
2260	13186251	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	115	pfam07686	NULL
2260	13186251	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	98	pfam07679	NULL
2260	13186251	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	83	cd05869	NULL
2260	13186251	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	85	cd05732	NULL
2260	13186251	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	74	cd04968	NULL
2260	13186251	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	60	cd05723	NULL
2260	291327493	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	71	cd05729	NULL
2260	291327493	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	206	smart00409	NULL
2260	291327493	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	206	smart00410	NULL
2260	291327493	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	68	cd05765	NULL
2260	291327493	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	73	cd04969	NULL
2260	291327493	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	76	cd05858	NULL
2260	291327493	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	93	cd04974	NULL
2260	291327493	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	58	cd05725	NULL
2260	291327493	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	59	cd05736	NULL
2260	291327493	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	128	cd00096	NULL
2260	291327493	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	123	smart00408	NULL
2260	291327493	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	115	pfam07686	NULL
2260	291327493	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	98	pfam07679	NULL
2260	291327493	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	83	cd05869	NULL
2260	291327493	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	85	cd05732	NULL
2260	291327493	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	74	cd04968	NULL
2260	291327493	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	60	cd05723	NULL
2260	291327497	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	58	pfam07686	NULL
2260	291327497	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	66	pfam07679	NULL
2260	291327497	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	34	cd05736	NULL
2260	291327497	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	34	cd05725	NULL
2260	291327497	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	79	cd00096	NULL
2260	291327497	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	50	cd05869	NULL
2260	291327497	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	151	smart00409	NULL
2260	291327497	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	151	smart00410	NULL
2260	291327497	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	39	cd05729	NULL
2260	291327497	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	71	smart00408	NULL
2260	291327497	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	49	cd04968	NULL
2260	291327497	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	34	cd05723	NULL
2260	291327497	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	52	cd05732	NULL
2260	291327497	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	59	pfam00047	NULL
2260	291327497	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	43	cd05858	NULL
2260	291327497	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	52	cd04974	NULL
2260	291327497	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	33	cd05765	NULL
2260	291327497	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	38	cd04969	NULL
2260	13186234	Disease	p.Leu342Ser	136350.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	No Domain	N/A	NULL
2260	120046	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	11	smart00409	105990522,NP_075598
2260	120046	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	11	smart00410	105990522,NP_075598
2260	120046	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	9	cd04973	105990522,NP_075598
2260	120046	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	2	smart00408	105990522,NP_075598
2260	120046	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	16	pfam07679	105990522,NP_075598
2260	291327489	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	11	smart00409	NULL
2260	291327489	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	11	smart00410	NULL
2260	291327489	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	9	cd04973	NULL
2260	291327489	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	2	smart00408	NULL
2260	291327489	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	16	pfam07679	NULL
2260	291327491	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	19	smart00409	NULL
2260	291327491	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	19	smart00410	NULL
2260	291327491	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	17	cd04973	NULL
2260	291327491	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	24	pfam07679	NULL
2260	291327491	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	9	pfam00047	NULL
2260	291327491	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	10	smart00408	NULL
2260	291327491	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	6	cd00096	NULL
2260	291327495	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	No Domain	N/A	NULL
2260	13186236	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	No Domain	N/A	NULL
2260	13186251	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	11	smart00409	NULL
2260	13186251	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	11	smart00410	NULL
2260	13186251	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	9	cd04973	NULL
2260	13186251	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	2	smart00408	NULL
2260	13186251	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	16	pfam07679	NULL
2260	291327493	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	11	smart00409	NULL
2260	291327493	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	11	smart00410	NULL
2260	291327493	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	9	cd04973	NULL
2260	291327493	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	2	smart00408	NULL
2260	291327493	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	16	pfam07679	NULL
2260	291327497	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	No Domain	N/A	NULL
2260	13186234	Disease	p.Gly48Ser	136350.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	No Domain	N/A	NULL
2260	120046	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	No Domain	N/A	105990522,NP_075598
2260	291327489	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	No Domain	N/A	NULL
2260	291327491	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	No Domain	N/A	NULL
2260	291327495	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	14	cd05104	NULL
2260	291327495	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	17	cd05107	NULL
2260	291327495	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	6	cd06658	NULL
2260	291327495	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	4	cd06657	NULL
2260	291327495	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	13	cd05105	NULL
2260	291327495	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	17	cd05106	NULL
2260	291327495	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	5	cd06659	NULL
2260	291327495	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	9	cd06635	NULL
2260	13186236	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	8	cd05055	NULL
2260	13186236	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	18	cd05105	NULL
2260	13186236	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	16	cd05104	NULL
2260	13186236	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	8	cd06658	NULL
2260	13186236	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	6	cd06657	NULL
2260	13186236	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	19	cd05106	NULL
2260	13186236	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	7	cd06659	NULL
2260	13186236	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	19	cd05107	NULL
2260	13186236	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	3	cd06614	NULL
2260	13186236	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	3	cd07845	NULL
2260	13186236	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	11	cd06635	NULL
2260	13186251	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	No Domain	N/A	NULL
2260	291327493	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	No Domain	N/A	NULL
2260	291327497	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	106	pfam07686	NULL
2260	291327497	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	89	pfam07679	NULL
2260	291327497	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	50	cd05736	NULL
2260	291327497	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	49	cd05725	NULL
2260	291327497	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	119	cd00096	NULL
2260	291327497	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	74	cd05869	NULL
2260	291327497	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	189	smart00409	NULL
2260	291327497	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	189	smart00410	NULL
2260	291327497	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	62	cd05729	NULL
2260	291327497	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	114	smart00408	NULL
2260	291327497	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	65	cd04968	NULL
2260	291327497	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	51	cd05723	NULL
2260	291327497	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	76	cd05732	NULL
2260	291327497	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	84	pfam00047	NULL
2260	291327497	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	67	cd05858	NULL
2260	291327497	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	84	cd04974	NULL
2260	291327497	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	59	cd05765	NULL
2260	291327497	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	64	cd04969	NULL
2260	13186234	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	14	cd05104	NULL
2260	13186234	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	17	cd05107	NULL
2260	13186234	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	6	cd06658	NULL
2260	13186234	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	4	cd06657	NULL
2260	13186234	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	13	cd05105	NULL
2260	13186234	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	17	cd05106	NULL
2260	13186234	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	5	cd06659	NULL
2260	13186234	Disease	p.Pro366Leu	136350.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	9	cd06635	NULL
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd06636	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	287	cd05057	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	305	cd05103	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	354	cd05054	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	303	cd05102	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd07845	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	277	cd06614	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd07878	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	271	cd07851	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	261	cd07850	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	263	cd06639	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	280	cd07852	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	207	smart00750	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06648	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	367	cd05107	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	968	smart00220	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd08221	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	226	cd05577	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	217	cd05608	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	780	cd05579	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	220	cd05115	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	844	cd05123	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05047	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	301	cd05572	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	825	cd00180	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	213	cd05585	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	239	cd06917	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd06634	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	254	cd07877	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd05089	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	244	cd05061	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	226	cd05073	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd05070	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	251	cd05067	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd05068	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	221	cd05082	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	236	cd05034	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	219	cd05083	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd05039	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	261	cd05148	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	226	cd05072	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd06637	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd05036	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd05062	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	289	cd05032	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	237	cd07858	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	261	cd05056	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05052	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	253	cd07849	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	239	cd07864	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224	cd07870	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd05071	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd05069	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	252	cd06638	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	258	cd05099	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	275	cd05053	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	259	cd05100	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	239	cd06659	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	247	cd06658	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd07880	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	261	cd05101	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	239	cd06624	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd06656	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd06655	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd06607	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd06647	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd08223	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd06628	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	313	cd05122	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd07836	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd07863	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	220	cd07860	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	221	cd05615	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	380	cd06606	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	269	cd06626	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd08225	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	251	cd05045	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	373	cd07834	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	237	cd07857	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd07859	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	295	cd08215	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd05614	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd06651	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd08222	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222	cd08218	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	265_G	cd07854	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd08530	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	268	cd06627	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	285	cd07841	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd07853	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	242	cd06629	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd05583	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd05613	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	251_G	cd08528	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd06646	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd06645	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd06635	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	239	cd06657	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd06625	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd07839	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	255	cd06652	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd08224	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd06653	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	269	cd05043	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd07871	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd05630	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225_G	cd05632	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd05605	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd05081	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	277	cd07865	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd06643	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd06611	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd06644	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	247	cd06618	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd06631	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224	cd05584	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd06630	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	249	cd06632	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd07844	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222_G	cd06640	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222_G	cd06641	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	234	cd06613	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222_G	cd06642	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	276	cd06608	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	239	cd06654	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	365	cd05105	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	304	cd07866	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05110	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05111	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd05112	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd05059	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224	cd05113	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd05114	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	245	cd05088	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	267	cd05033	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05065	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	288	cd05038	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd05079	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd05066	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05108	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	244	cd06616	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05109	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	226	cd07831	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd07848	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	295	cd08217	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	336	cd07833	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	469_G	cd05581	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	393	cd07842	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	272	cd07846	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	331	cd07840	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	296	cd06623	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	254	cd06609	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd06621	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	294	cd06605	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	269	cd06615	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd07856	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd07862	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd07847	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222	cd07861	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	226	cd08229	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	221	cd08219	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	230	cd07872	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	221	cd05616	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	226	cd05587	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	230	cd07873	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	249	cd06610	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	286	cd05580	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	230	cd08529	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	226	cd08228	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	230	cd06617	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	279	cd07832	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	249	cd06622	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	252	cd06619	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	239	cd07837	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	1111	COG0515	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	245	cd05612	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	279	cd07843	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	349	cd05104	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd05091	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	251	cd05048	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd05090	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	259	cd05049	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd05092	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	299	cd05096	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	263	cd05097	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	311	cd05046	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	318	cd05051	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	273	cd05095	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	257	cd05050	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	290	cd06620	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd05064	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05063	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	307	cd05094	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	244	cd05093	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	364	cd05055	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	220	cd05041	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd05087	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	237	cd05042	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	237	cd05040	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	217	cd05085	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	218	cd05084	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd05044	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	244	cd05076	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05078	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	258	cd05037	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	481	cd00192	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd05077	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	217	cd05602	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	247	cd07835	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd05588	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	220	cd05116	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05060	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	218	cd05582	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	216	cd05590	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	213	cd05619	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05570	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd05620	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05086	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd05058	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	234	cd05593	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	216	cd05591	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd05603	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd08220	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd05592	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	216	cd05571	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd05617	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	265	cd05118	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	216	cd05594	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	347	cd05106	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	264	cd05098	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	239	cd05578	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	301	cd07838	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	974	smart00221	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd05080	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	658	smart00219	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	390	pfam00069	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	357	cd07830	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	245	cd06612	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	449	pfam07714	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	295	cd07829	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	251	cd05075	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	237	cd05074	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	247	cd05035	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	221	cd05589	105990522,NP_075598
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	282	cd07852	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	265	cd06639	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06656	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	263	cd05101	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06647	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd07880	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06655	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd06624	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	234	cd06607	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	266	cd05098	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	245	cd07845	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	279	cd06614	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	351	cd05104	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	349	cd05106	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	277	cd05053	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	261	cd05100	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	254	cd06638	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	260	cd05099	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	273	cd07851	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	245	cd07878	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	263	cd07850	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	366	cd05055	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	279	cd07865	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd06643	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	352	cd07840	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	338	cd07833	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	470	cd05581	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	406	cd07842	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	297	cd08217	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd07831	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	252	cd07848	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	274	cd07846	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	307	cd05103	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	356	cd05054	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	305	cd05102	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd06636	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	289	cd05057	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	218	cd05594	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222	cd05116	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd05060	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd08220	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd05086	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05058	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	249	cd07835	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	236	cd05593	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	218	cd05591	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	267	cd05118	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd05570	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	220	cd05582	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	218	cd05590	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	215	cd05619	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	234	cd05592	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	218	cd05571	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd05617	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222	cd05041	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd05087	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd05042	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	239	cd05040	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	219	cd05085	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	220	cd05084	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd05044	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd05603	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd05620	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	218	cd05602	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05588	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	245_G	cd05076	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd05078	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	260	cd05037	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	483	cd00192	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232_G	cd05077	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd06651	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd08222	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224	cd08218	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	306	cd08215	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd07836	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd07863	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222	cd07860	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd07853	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	253	cd05045	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd08223	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06628	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	267	cd07854	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	237_G	cd07857	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	375	cd07834	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	242	cd07859	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	382	cd06606	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	271	cd06626	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd08225	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd08530	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	270	cd06627	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	305	cd07841	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	244	cd06629	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	251_G	cd08528	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd05615	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd05583	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd05613	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05614	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	315	cd05122	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd05578	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	369	cd05107	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd07837	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	260	cd06610	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd07862	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	234	cd07847	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224	cd07861	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd06617	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	1138	COG0515	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	251	cd06622	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	271	cd06615	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd07873	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	298	cd06623	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd07856	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	254	cd06619	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd08229	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd08219	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd06621	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	300	cd06605	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	288	cd05580	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd08529	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd08228	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	281	cd07832	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd05587	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	256	cd06609	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	247	cd05612	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd07872	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd05616	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd06635	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	299	cd07829	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd05080	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	303	cd07838	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd05589	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	253	cd05075	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	239	cd05074	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	249	cd05035	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	976	smart00221	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	660	smart00219	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	392	pfam00069	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	359	cd07830	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	247	cd06612	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	451	pfam07714	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	367	cd05105	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	846	cd05123	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05047	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd08221	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222	cd05115	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	303	cd05572	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	827	cd00180	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	215	cd05585	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd06917	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	782	cd05579	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd05577	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	219	cd05608	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd06654	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd06659	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	292	cd06620	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	309	cd05094	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd05093	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05064	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05063	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	261	cd05049	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd05092	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	301	cd05096	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	265	cd05097	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	313	cd05046	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	320	cd05051	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	275	cd05095	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	259	cd05050	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd05091	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	253	cd05048	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd05090	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	208_G	smart00750	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05071	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd05052	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	263	cd05056	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd05073	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05070	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	253	cd05067	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05068	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd05082	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd05034	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	221	cd05083	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	230	cd05039	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	263	cd05148	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd05072	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05069	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd07864	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224_G	cd07870	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd07858	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	255	cd07849	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06637	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd05036	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	245	cd05062	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	291	cd05032	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	242	cd05089	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd05061	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd06646	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd06645	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	281	cd07843	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	269	cd05033	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05065	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	290	cd05038	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd05079	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05066	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05108	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd06616	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05109	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	306	cd07866	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	247	cd05088	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd05112	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05059	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	226	cd05113	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd05114	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05110	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05111	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06644	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd06611	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	253	cd06618	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd06657	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	242	cd06648	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd08224	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd07871	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd05081	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	257	cd06652	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd06653	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	271	cd05043	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	230	cd05630	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05632	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05605	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232_G	cd06630	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd06631	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	251	cd06632	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	226	cd05584	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	993	smart00220	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06634	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	256	cd07877	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	249	cd06658	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224	cd06640	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224	cd06641	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	278	cd06608	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224	cd06642	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd07844	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	236	cd06613	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd07839	NULL
2260	291327489	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	234	cd06625	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd07839	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	242	cd06625	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	262	cd06638	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	269	cd05100	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	268	cd05099	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	285	cd05053	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	262	smart00750	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	305	cd08217	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	360	cd07840	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	283	cd07846	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd07831	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	260	cd07848	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	414	cd07842	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	347	cd07833	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	478	cd05581	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	258	cd06636	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	297	cd05057	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	315	cd05103	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	364	cd05054	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	313	cd05102	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	287	cd06614	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	253	cd07845	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	261	cd06618	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd06644	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd06611	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd07873	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	260	cd06622	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	281	cd06615	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd07856	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	1146	COG0515	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	236	cd05587	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	268	cd06610	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	249	cd07837	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd07862	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	242	cd07847	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd07861	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd08229	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd08219	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	258	cd05612	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	254	cd06621	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	315	cd06605	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	242	cd06617	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	298	cd05580	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd08529	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	236	cd08228	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	262	cd06619	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	291	cd07832	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd07872	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd05616	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	267	cd06609	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	317	cd06623	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	256	cd06658	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	258	cd06616	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd05111	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd05110	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd05109	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	255	cd05088	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	277	cd05033	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd05065	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	304	cd05038	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	258	cd05079	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd05066	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05112	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05059	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	234	cd05113	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05114	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	319	cd07866	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd05108	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	244	cd06646	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	244	cd06645	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd06631	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	259	cd06632	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06630	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	234	cd05584	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	265	cd06652	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	258	cd05081	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd06653	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	239	cd07871	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	242	cd08224	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd05630	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05632	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05605	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	279	cd05043	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	249	cd06654	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd06643	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	297	cd07865	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	377	cd05107	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	273	cd06639	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	271	cd07850	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	259	cd07878	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	281	cd07851	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd05064	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd05063	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	258	cd05091	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	261	cd05048	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	258	cd05090	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	303	cd06620	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	317	cd05094	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	254	cd05093	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	269	cd05049	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	256	cd05092	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	309	cd05096	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	273	cd05097	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	321	cd05046	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	328	cd05051	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	284	cd05095	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	267	cd05050	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	261	cd05075	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	247	cd05074	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	257	cd05035	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	307	cd07829	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	332	cd07838	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd05589	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	984	smart00221	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	256	cd05080	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	677	smart00219	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	445	pfam00069	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	372	cd07830	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	255	cd06612	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	459	pfam07714	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd06656	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd06647	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	252	cd06607	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	271	cd05101	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	249	cd06624	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	259	cd07880	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd06655	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	374	cd05055	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd06659	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	236	cd07844	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	244	cd06613	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd06642	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd06640	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd06641	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	286	cd06608	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	255	cd08528	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd07857	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	249	cd07853	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd07859	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	239	cd05583	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	251	cd05613	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	383	cd07834	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	314	cd08215	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd05615	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	275	cd07854	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd08530	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	279	cd06627	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	313	cd07841	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	252	cd06629	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd07836	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	239	cd07863	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	230	cd07860	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd08223	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd06628	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	261	cd05045	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	406	cd06606	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	284	cd06626	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd08225	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd06651	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	237	cd08222	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd08218	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	330	cd05122	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd05614	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	375	cd05105	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	237	cd08221	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd05585	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	236	cd05577	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05608	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	800	cd05579	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd05047	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	249	cd06917	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	313	cd05572	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	835	cd00180	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	230	cd05115	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	881	cd05123	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd05089	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	236	cd05073	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05070	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	261	cd05067	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd05068	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd05082	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd05034	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd05083	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd05039	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	271	cd05148	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	236	cd05072	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	249	cd07864	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd07870	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	263	cd07849	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05071	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	271	cd05056	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd06637	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	256	cd05036	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	253	cd05062	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	302	cd05032	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05069	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	237	cd05052	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	254	cd07858	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	254	cd05061	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	294	cd07852	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	289	cd07843	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	256	cd06635	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	259	cd05578	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	249	cd06657	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	357	cd05106	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05603	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd05582	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	226	cd05590	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222	cd05619	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	237	cd05570	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	257	cd07835	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	242	cd05592	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	226	cd05571	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05617	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	287	cd05118	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	230	cd05116	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	237	cd05060	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	230	cd05041	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	251	cd05087	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd05042	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	247	cd05040	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05085	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd05084	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	251	cd05044	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd05593	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd08220	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd05086	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd05058	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	226	cd05594	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	252	cd05076	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	237	cd05078	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	272	cd05037	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	497	cd00192	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	239	cd05077	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	237	cd05620	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	226	cd05602	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	226	cd05591	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05588	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd06648	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	264	cd07877	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd06634	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	359	cd05104	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	274	cd05098	NULL
2260	291327491	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	1185	smart00220	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	316	cd05589	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	315	cd05584	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	303	cd05585	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	1403	COG0515	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	317	cd05587	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	331	cd06622	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	300	cd07872	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	312	cd05616	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	326	cd07856	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	320	cd05614	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	313	cd05615	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	383	cd07853	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	326	cd05592	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	304	cd05571	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	316	cd05617	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	320	cd05588	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	311	cd05620	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	310	cd05591	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	306	cd05582	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	311	cd05590	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	296	cd05619	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	350	cd07849	NULL
2260	291327495	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	340	cd07858	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	322	cd05588	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	313	cd05620	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	310	cd05582	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	313	cd05590	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	298	cd05619	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	312	cd05591	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	328	cd05592	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	306	cd05571	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	318	cd05617	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	323	cd05614	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	315	cd05615	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	385	cd07853	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	358	cd07849	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	342	cd07858	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	318	cd05589	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	302	cd07872	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	314	cd05616	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	319	cd05587	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	333	cd06622	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	1405	COG0515	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	317	cd05584	NULL
2260	13186236	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	305	cd05585	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	282	cd07852	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	265	cd06639	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06656	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	263	cd05101	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06647	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd07880	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06655	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd06624	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	234	cd06607	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	266	cd05098	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	245	cd07845	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	279	cd06614	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	351	cd05104	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	349	cd05106	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	277	cd05053	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	261	cd05100	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	254	cd06638	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	260	cd05099	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	273	cd07851	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	245	cd07878	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	263	cd07850	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	366	cd05055	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	279	cd07865	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd06643	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	352	cd07840	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	338	cd07833	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	470	cd05581	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	406	cd07842	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	297	cd08217	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd07831	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	252	cd07848	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	274	cd07846	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	307	cd05103	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	356	cd05054	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	305	cd05102	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd06636	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	289	cd05057	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	218	cd05594	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222	cd05116	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd05060	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd08220	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd05086	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05058	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	249	cd07835	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	236	cd05593	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	218	cd05591	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	267	cd05118	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd05570	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	220	cd05582	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	218	cd05590	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	215	cd05619	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	234	cd05592	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	218	cd05571	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd05617	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222	cd05041	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd05087	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd05042	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	239	cd05040	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	219	cd05085	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	220	cd05084	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd05044	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd05603	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd05620	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	218	cd05602	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05588	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	245_G	cd05076	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd05078	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	260	cd05037	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	483	cd00192	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232_G	cd05077	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd06651	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd08222	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224	cd08218	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	306	cd08215	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd07836	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd07863	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222	cd07860	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd07853	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	253	cd05045	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd08223	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06628	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	267	cd07854	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	237_G	cd07857	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	375	cd07834	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	242	cd07859	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	382	cd06606	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	271	cd06626	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd08225	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd08530	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	270	cd06627	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	305	cd07841	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	244	cd06629	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	251_G	cd08528	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd05615	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd05583	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd05613	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05614	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	315	cd05122	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd05578	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	369	cd05107	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd07837	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	260	cd06610	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd07862	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	234	cd07847	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224	cd07861	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd06617	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	1138	COG0515	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	251	cd06622	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	271	cd06615	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd07873	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	298	cd06623	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd07856	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	254	cd06619	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd08229	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd08219	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd06621	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	300	cd06605	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	288	cd05580	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd08529	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd08228	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	281	cd07832	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd05587	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	256	cd06609	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	247	cd05612	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd07872	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd05616	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd06635	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	299	cd07829	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd05080	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	303	cd07838	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd05589	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	253	cd05075	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	239	cd05074	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	249	cd05035	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	976	smart00221	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	660	smart00219	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	392	pfam00069	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	359	cd07830	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	247	cd06612	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	451	pfam07714	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	367	cd05105	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	846	cd05123	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05047	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd08221	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222	cd05115	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	303	cd05572	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	827	cd00180	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	215	cd05585	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd06917	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	782	cd05579	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd05577	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	219	cd05608	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd06654	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd06659	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	292	cd06620	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	309	cd05094	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd05093	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05064	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05063	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	261	cd05049	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd05092	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	301	cd05096	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	265	cd05097	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	313	cd05046	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	320	cd05051	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	275	cd05095	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	259	cd05050	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd05091	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	253	cd05048	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd05090	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	208_G	smart00750	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05071	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd05052	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	263	cd05056	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd05073	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05070	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	253	cd05067	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05068	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd05082	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd05034	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	221	cd05083	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	230	cd05039	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	263	cd05148	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd05072	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05069	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd07864	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224_G	cd07870	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd07858	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	255	cd07849	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06637	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd05036	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	245	cd05062	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	291	cd05032	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	242	cd05089	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd05061	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd06646	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd06645	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	281	cd07843	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	269	cd05033	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05065	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	290	cd05038	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd05079	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05066	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05108	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd06616	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05109	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	306	cd07866	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	247	cd05088	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd05112	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05059	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	226	cd05113	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd05114	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05110	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05111	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06644	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd06611	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	253	cd06618	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd06657	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	242	cd06648	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd08224	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd07871	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd05081	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	257	cd06652	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd06653	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	271	cd05043	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	230	cd05630	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05632	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05605	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232_G	cd06630	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd06631	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	251	cd06632	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	226	cd05584	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	993	smart00220	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06634	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	256	cd07877	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	249	cd06658	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224	cd06640	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224	cd06641	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	278	cd06608	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224	cd06642	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd07844	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	236	cd06613	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd07839	NULL
2260	13186251	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	234	cd06625	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	282	cd07852	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	265	cd06639	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06656	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	263	cd05101	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06647	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd07880	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06655	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd06624	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	234	cd06607	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	266	cd05098	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	245	cd07845	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	279	cd06614	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	351	cd05104	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	349	cd05106	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	277	cd05053	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	261	cd05100	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	254	cd06638	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	260	cd05099	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	273	cd07851	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	245	cd07878	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	263	cd07850	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	366	cd05055	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	279	cd07865	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd06643	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	352	cd07840	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	338	cd07833	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	470	cd05581	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	406	cd07842	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	297	cd08217	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd07831	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	252	cd07848	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	274	cd07846	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	307	cd05103	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	356	cd05054	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	305	cd05102	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd06636	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	289	cd05057	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	218	cd05594	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222	cd05116	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd05060	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd08220	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd05086	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05058	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	249	cd07835	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	236	cd05593	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	218	cd05591	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	267	cd05118	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd05570	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	220	cd05582	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	218	cd05590	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	215	cd05619	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	234	cd05592	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	218	cd05571	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd05617	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222	cd05041	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd05087	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd05042	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	239	cd05040	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	219	cd05085	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	220	cd05084	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd05044	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd05603	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd05620	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	218	cd05602	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05588	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	245_G	cd05076	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd05078	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	260	cd05037	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	483	cd00192	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232_G	cd05077	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd06651	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd08222	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224	cd08218	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	306	cd08215	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd07836	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd07863	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222	cd07860	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd07853	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	253	cd05045	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd08223	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06628	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	267	cd07854	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	237_G	cd07857	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	375	cd07834	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	242	cd07859	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	382	cd06606	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	271	cd06626	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd08225	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd08530	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	270	cd06627	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	305	cd07841	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	244	cd06629	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	251_G	cd08528	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd05615	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd05583	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd05613	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05614	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	315	cd05122	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd05578	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	369	cd05107	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd07837	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	260	cd06610	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd07862	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	234	cd07847	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224	cd07861	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd06617	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	1138	COG0515	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	251	cd06622	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	271	cd06615	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd07873	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	298	cd06623	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd07856	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	254	cd06619	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd08229	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd08219	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd06621	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	300	cd06605	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	288	cd05580	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd08529	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd08228	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	281	cd07832	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd05587	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	256	cd06609	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	247	cd05612	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232	cd07872	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd05616	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd06635	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	299	cd07829	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd05080	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	303	cd07838	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd05589	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	253	cd05075	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	239	cd05074	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	249	cd05035	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	976	smart00221	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	660	smart00219	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	392	pfam00069	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	359	cd07830	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	247	cd06612	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	451	pfam07714	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	367	cd05105	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	846	cd05123	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05047	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd08221	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222	cd05115	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	303	cd05572	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	827	cd00180	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	215	cd05585	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd06917	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	782	cd05579	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd05577	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	219	cd05608	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd06654	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd06659	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	292	cd06620	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	309	cd05094	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd05093	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05064	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05063	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	261	cd05049	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd05092	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	301	cd05096	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	265	cd05097	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	313	cd05046	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	320	cd05051	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	275	cd05095	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	259	cd05050	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd05091	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	253	cd05048	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd05090	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	208_G	smart00750	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05071	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd05052	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	263	cd05056	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd05073	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05070	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	253	cd05067	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05068	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd05082	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd05034	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	221	cd05083	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	230	cd05039	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	263	cd05148	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	228	cd05072	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05069	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd07864	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224_G	cd07870	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd07858	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	255	cd07849	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06637	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	248	cd05036	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	245	cd05062	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	291	cd05032	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	242	cd05089	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd05061	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd06646	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd06645	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	281	cd07843	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	269	cd05033	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05065	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	290	cd05038	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd05079	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05066	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05108	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd06616	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05109	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	306	cd07866	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	247	cd05088	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd05112	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05059	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	226	cd05113	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd05114	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05110	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd05111	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06644	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd06611	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	253	cd06618	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd06657	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	242	cd06648	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd08224	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd07871	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd05081	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	257	cd06652	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd06653	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	271	cd05043	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	230	cd05630	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05632	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05605	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	232_G	cd06630	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	235	cd06631	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	251	cd06632	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	226	cd05584	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	993	smart00220	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd06634	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	256	cd07877	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	249	cd06658	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224	cd06640	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224	cd06641	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	278	cd06608	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224	cd06642	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd07844	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	236	cd06613	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd07839	NULL
2260	291327493	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	234	cd06625	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	202	cd05578	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	200	cd06630	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	217	cd06632	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	195	cd05584	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	201	cd06631	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	231	cd06639	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd07843	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	220	cd07852	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	215	cd06635	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	202	cd05108	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	241	cd07866	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	202	cd05110	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	192	cd05112	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	194	cd05059	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	193	cd05113	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	192	cd05114	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	202	cd05111	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	214	cd05088	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	236	cd05033	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	202	cd05065	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	229	cd05038	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	203	cd05079	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	200	cd05066	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	209	cd06616	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	202	cd05109	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	207	cd06654	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	201	cd06625	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	191	cd07839	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	333	cd05105	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	192	cd06642	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	192	cd06640	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	192	cd06641	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	200	cd06613	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	196	cd07844	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240_G	cd06608	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	209	cd06658	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	209	cd07857	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	200	cd05583	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	212	cd05613	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	195	cd07836	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	201	cd07863	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	192	cd07860	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222	cd07854	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	204	cd07859	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	280	cd07834	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	337	cd06606	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd06626	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	193	cd08225	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	260	cd08215	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	193	cd08223	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	207	cd06628	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	199	cd08530	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	236	cd06627	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd07841	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	236	cd05122	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	197	cd07853	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	198	cd05614	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	214	cd08528	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	207	cd06629	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	200	cd06651	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	197	cd08222	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	192	cd08218	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	220	cd05045	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	192	cd05615	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	735	cd05579	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	202	cd05047	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	192	cd05577	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	188	cd05608	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	262	cd05572	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	676	cd00180	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	803	cd05123	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	189	cd05115	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	205	cd06917	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	195	cd08221	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	184	cd05585	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	219	cd07835	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	187	cd05603	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	187	cd05588	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	189	cd05570	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	187	cd05594	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	189	cd05041	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	205	cd05087	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	204	cd05042	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	204	cd05040	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	186	cd05085	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	187	cd05084	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	210	cd05044	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	189	cd05116	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	196	cd05060	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	187	cd05591	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	213	cd05076	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	198	cd05078	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222	cd05037	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	429	cd00192	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	200	cd05077	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	203	cd05592	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	187	cd05571	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	187	cd05617	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	202	cd05620	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	186	cd05593	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	201	cd08220	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	187	cd05602	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	200	cd05086	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	200	cd05058	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	204	cd05118	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	189	cd05582	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	187	cd05590	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	187	cd05619	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	208	cd06659	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	339	cd07842	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	194	cd07846	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	198	cd07831	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	221	cd07848	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	291	cd07840	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	251	cd07833	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	442	cd05581	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	264	cd08217	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	200	cd06646	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	200	cd06645	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	211	cd07837	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	201	cd07862	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	199	cd07847	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	194	cd07861	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	214	cd07832	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	250	cd06623	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	196	cd07873	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	200	cd06621	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	215	cd06605	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	196	cd07872	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	192	cd05616	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	197	cd07856	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	199	cd06617	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	189	cd05612	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	215	cd06610	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	197	cd08229	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	191	cd08219	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222	cd06609	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	216	cd06622	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	191	cd06615	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	917	COG0515	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	254	cd05580	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	197	cd08529	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	197	cd08228	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	205	cd06619	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	197	cd05587	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	785	smart00220	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	225	cd05049	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	215	cd05092	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	260	cd05096	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224	cd05097	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	278	cd05046	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	263	cd05051	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	234	cd05095	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	226	cd05050	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	200	cd05064	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	202	cd05063	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	197	cd06620	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	223	cd05094	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	213	cd05093	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	217	cd05091	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	220	cd05048	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	217	cd05090	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	315	cd05106	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	209	cd07877	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	205	cd06634	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	222	cd07865	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	199	cd06643	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	198	cd08224	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	195	cd07871	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	192	cd05630	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	192	cd05632	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	192	cd05605	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	202	cd05081	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	238	cd05043	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	200	cd06653	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	224	cd06652	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	335	cd05107	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	273	cd05103	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	322	cd05054	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	271	cd05102	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	256	cd05057	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	217	cd06636	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	243	cd05053	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05100	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd05099	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	220	cd06638	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	233	cd05098	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	205	cd07858	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	194	cd05071	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	207	cd06637	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	215	cd05036	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	212	cd05062	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	257	cd05032	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	212	cd07864	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	195	cd07870	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	216	cd07849	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	213	cd05061	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	209	cd05089	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	230	cd05056	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	196	cd05052	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	194	cd05069	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	195	cd05073	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	194	cd05070	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	194	cd05067	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	200	cd05068	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	190	cd05082	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	205	cd05034	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	197	cd05039	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	188	cd05083	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	197	cd05148	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	195	cd05072	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	182	smart00750	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	212	cd07850	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	207	cd07878	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	227	cd07851	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	332	cd05055	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	317	cd05104	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	215	cd07845	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	245	cd06614	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	207	cd06648	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	857	smart00221	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	201	cd05080	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	240	cd07838	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	220	cd05075	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	206	cd05074	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	216	cd05035	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	581	smart00219	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	343	pfam00069	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	267	cd07830	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	211	cd06612	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	388	pfam07714	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	192	cd05589	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	246	cd07829	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	207	cd06657	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	206	cd06644	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	214	cd06618	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	201	cd06611	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	206	cd06647	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	207	cd06624	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	205	cd06607	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	230	cd05101	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	207	cd07880	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	206	cd06656	NULL
2260	291327497	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	206	cd06655	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	316	cd05589	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	315	cd05584	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	303	cd05585	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	1403	COG0515	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	317	cd05587	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	331	cd06622	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	300	cd07872	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	312	cd05616	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	326	cd07856	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	320	cd05614	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	313	cd05615	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	383	cd07853	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	326	cd05592	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	304	cd05571	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	316	cd05617	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	320	cd05588	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	311	cd05620	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	310	cd05591	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	306	cd05582	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	311	cd05590	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	296	cd05619	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	350	cd07849	NULL
2260	13186234	Disease	p.Pro722Ser	136350.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	KALLMANN SYNDROME 2	OMIM	340	cd07858	NULL
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	327	cd05057	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd07845	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	320	cd06614	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	296	cd07878	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	319	cd07851	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	318	cd07850	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	331	cd07852	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280	cd06648	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd05577	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05608	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd05585	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd06634	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	304	cd07877	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280	cd05089	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd07858	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	297	cd07849	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280_G	cd07864	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd07870	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	299	cd05099	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	301	cd05100	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280	cd06659	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd06658	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	288	cd07880	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	303	cd05101	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd06656	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd06655	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283	cd06607	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd06647	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd07836	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265_G	cd07863	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	255	cd07860	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05615	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	476	cd07834	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd07857	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd07859	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd05614	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	323	cd07854	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	300	cd07853	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd05583	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd05613	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	306	cd06635	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd06657	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd07839	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd07871	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05630	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd05632	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05605	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	325	cd07865	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd06643	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd06611	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd06644	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	292	cd06618	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	264	cd05584	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd07844	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd06640	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd06641	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd06642	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd06654	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd05110	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd05111	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd05088	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd05108	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	300	cd06616	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05109	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd07831	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd07848	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	417	cd07840	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302	cd06609	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	319	cd06615	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd07856	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265_G	cd07862	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd07847	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	264	cd07861	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd07872	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05616	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd05587	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd07873	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd06617	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	290	cd06622	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd06619	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd07837	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1202	COG0515	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	288	cd05612	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	340	cd06620	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	347_G	cd05094	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd05093	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd05602	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd07835	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd05588	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd05582	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	258	cd05590	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd05619	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	325	cd05570	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05620	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	281	cd05593	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd05591	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	281	cd05603	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd05592	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd05571	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	264	cd05617	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd05594	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	306	cd05098	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	362	cd07829	105990522,NP_075598
2260	120046	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05589	105990522,NP_075598
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	333	cd07852	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd06656	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd06647	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	290	cd07880	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd06655	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd06607	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd07845	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	322	cd06614	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	303	cd05100	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	301	cd05099	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	325	cd07851	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	298	cd07878	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	320	cd07850	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	327	cd07865	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd06643	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	419	cd07840	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd07831	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd07848	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	329	cd05057	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	284	cd05594	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd07835	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283	cd05593	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05591	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	331	cd05570	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd05582	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd05590	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd05619	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd05592	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	258	cd05571	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd05617	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283	cd05603	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd05620	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd05602	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd05588	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd07836	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265_G	cd07863	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	257	cd07860	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302	cd07853	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	325	cd07854	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd07857	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	478	cd07834	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd07859	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd05615	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05583	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd05613	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05614	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd07837	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265_G	cd07862	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd07847	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd07861	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	281	cd06617	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1204	COG0515	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	292	cd06622	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	321	cd06615	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd07873	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280	cd07856	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd06619	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd05587	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	304	cd06609	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	290	cd05612	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd07872	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd05616	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	308	cd06635	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	364	cd07829	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd05589	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd05585	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd05577	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd05608	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd06654	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd06659	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	342	cd06620	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	349	cd05094	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd05093	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd07864	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd07870	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd07858	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	299	cd07849	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd05089	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05108	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302	cd06616	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd05109	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd05088	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05110	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05111	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	281	cd06644	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd06611	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	311	cd06618	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd06657	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd06648	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd07871	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd05630	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05632	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd05605	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd05584	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	284	cd06634	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	306	cd07877	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd06640	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd06641	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd06642	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd07844	NULL
2260	291327489	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd07839	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	311	cd05100	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	309	cd05099	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	281	cd07831	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	297	cd07848	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	297	cd07845	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd06644	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd07873	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	300	cd06622	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	288	cd07856	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1212	COG0515	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd05587	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283	cd07837	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd07862	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd07847	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd07861	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd06617	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302	cd06619	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd07872	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd05616	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	312	cd06609	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280_G	cd05110	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	294	cd05088	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283	cd05108	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd05584	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd07871	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd05630	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd05632	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd05605	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280	cd06654	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd06643	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	332	cd07865	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	329	cd07850	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	306	cd07878	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	338	cd07851	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd05589	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd06656	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd06647	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	300	cd06607	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	298	cd07880	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd06655	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd06659	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd07844	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd06642	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd06640	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd06641	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd07857	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	327	cd07853	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	295	cd07859	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283	cd05583	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	296	cd05613	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	511	cd07834	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd05615	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	334	cd07854	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd07836	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd07863	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd07860	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283	cd05614	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd05585	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277_G	cd05577	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272_G	cd05608	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd05089	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	290	cd07864	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273_G	cd07870	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	304	cd07849	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	297	cd07858	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	341	cd07852	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	316	cd06635	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd05603	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd05582	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd05590	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd05619	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	297	cd07835	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd05592	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd05571	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd05617	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd05593	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	292	cd05594	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd05620	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd05602	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05591	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd05588	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	319	cd07877	NULL
2260	291327491	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	296	cd06634	NULL
2260	291327495	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2260	13186236	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	333	cd07852	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd06656	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd06647	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	290	cd07880	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd06655	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd06607	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd07845	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	322	cd06614	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	303	cd05100	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	301	cd05099	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	325	cd07851	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	298	cd07878	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	320	cd07850	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	327	cd07865	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd06643	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	419	cd07840	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd07831	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd07848	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	329	cd05057	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	284	cd05594	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd07835	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283	cd05593	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05591	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	331	cd05570	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd05582	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd05590	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd05619	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd05592	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	258	cd05571	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd05617	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283	cd05603	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd05620	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd05602	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd05588	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd07836	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265_G	cd07863	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	257	cd07860	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302	cd07853	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	325	cd07854	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd07857	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	478	cd07834	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd07859	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd05615	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05583	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd05613	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05614	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd07837	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265_G	cd07862	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd07847	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd07861	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	281	cd06617	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1204	COG0515	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	292	cd06622	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	321	cd06615	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd07873	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280	cd07856	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd06619	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd05587	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	304	cd06609	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	290	cd05612	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd07872	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd05616	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	308	cd06635	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	364	cd07829	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd05589	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd05585	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd05577	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd05608	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd06654	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd06659	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	342	cd06620	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	349	cd05094	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd05093	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd07864	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd07870	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd07858	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	299	cd07849	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd05089	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05108	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302	cd06616	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd05109	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd05088	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05110	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05111	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	281	cd06644	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd06611	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	311	cd06618	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd06657	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd06648	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd07871	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd05630	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05632	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd05605	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd05584	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	284	cd06634	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	306	cd07877	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd06640	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd06641	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd06642	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd07844	NULL
2260	13186251	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd07839	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	333	cd07852	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd06656	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd06647	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	290	cd07880	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd06655	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd06607	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd07845	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	322	cd06614	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	303	cd05100	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	301	cd05099	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	325	cd07851	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	298	cd07878	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	320	cd07850	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	327	cd07865	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd06643	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	419	cd07840	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd07831	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd07848	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	329	cd05057	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	284	cd05594	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd07835	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283	cd05593	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05591	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	331	cd05570	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd05582	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd05590	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd05619	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd05592	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	258	cd05571	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd05617	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283	cd05603	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd05620	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd05602	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd05588	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd07836	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265_G	cd07863	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	257	cd07860	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302	cd07853	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	325	cd07854	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd07857	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	478	cd07834	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd07859	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd05615	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05583	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd05613	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05614	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd07837	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265_G	cd07862	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd07847	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd07861	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	281	cd06617	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1204	COG0515	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	292	cd06622	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	321	cd06615	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd07873	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280	cd07856	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd06619	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd05587	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	304	cd06609	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	290	cd05612	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd07872	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd05616	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	308	cd06635	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	364	cd07829	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd05589	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd05585	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd05577	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd05608	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd06654	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd06659	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	342	cd06620	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	349	cd05094	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd05093	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd07864	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd07870	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd07858	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	299	cd07849	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd05089	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05108	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302	cd06616	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd05109	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd05088	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05110	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05111	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	281	cd06644	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd06611	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	311	cd06618	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd06657	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd06648	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd07871	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd05630	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05632	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd05605	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd05584	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	284	cd06634	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	306	cd07877	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd06640	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd06641	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd06642	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd07844	NULL
2260	291327493	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd07839	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd05578	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd06630	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd06632	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05584	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd06631	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd06639	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	290	cd07843	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	295	cd07852	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	257	cd06635	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd05108	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	320	cd07866	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd05110	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd05112	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05059	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05113	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd05114	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd05111	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd05088	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd05033	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd05065	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	305	cd05038	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd05079	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd05066	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd06616	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd05109	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd06654	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd06625	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd07839	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	376	cd05105	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd06642	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd06640	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd06641	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd06613	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd07844	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd06608	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	257	cd06658	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd07857	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd05583	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	252	cd05613	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd07836	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd07863	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd07860	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd07854	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd07859	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	438	cd07834	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	407	cd06606	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd06626	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd08225	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	315	cd08215	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd08223	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06628	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd08530	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280	cd06627	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	314	cd07841	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	331	cd05122	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd07853	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd05614	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd08528	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd06629	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd06651	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd08222	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd08218	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd05045	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd05615	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	801	cd05579	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd05047	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd05577	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd05608	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	314	cd05572	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	836	cd00180	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	882	cd05123	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05115	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd06917	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd08221	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	224	cd05585	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	258	cd07835	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd05603	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05588	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05570	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05594	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05041	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	252	cd05087	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd05042	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05040	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd05085	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd05084	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	252	cd05044	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05116	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05060	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05591	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd05076	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05078	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd05037	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	498	cd00192	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd05077	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd05592	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05571	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd05617	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05620	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd05593	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd08220	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05602	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd05086	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd05058	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	288	cd05118	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	229	cd05582	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05590	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	223	cd05619	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd06659	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	415	cd07842	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	284	cd07846	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd07831	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd07848	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	361	cd07840	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	348	cd07833	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	479	cd05581	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	306	cd08217	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd06646	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd06645	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd07837	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd07862	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd07847	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd07861	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	292	cd07832	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	318	cd06623	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd07873	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	255	cd06621	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	316	cd06605	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240_G	cd07872	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd05616	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd07856	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd06617	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd05612	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd06610	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd08229	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd08219	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd06609	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd06622	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd06615	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1147	COG0515	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	299	cd05580	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd08529	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd08228	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd06619	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd05587	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1186	smart00220	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd05049	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	257	cd05092	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	310	cd05096	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd05097	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	322	cd05046	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	329	cd05051	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd05095	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd05050	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd05064	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd05063	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	304	cd06620	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	318	cd05094	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	255	cd05093	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd05091	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd05048	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd05090	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	358	cd05106	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd07877	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06634	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	298	cd07865	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd06643	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd08224	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd07871	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd05630	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05632	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05605	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd05081	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280	cd05043	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd06653	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd06652	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	378	cd05107	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	316	cd05103	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	365	cd05054	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	314	cd05102	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	298	cd05057	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd06636	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd05053	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd05100	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05099	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd06638	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05098	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	255	cd07858	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05071	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06637	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	257	cd05036	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd05062	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	303	cd05032	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd07864	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd07870	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	264	cd07849	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	255	cd05061	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd05089	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd05056	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05052	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05069	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd05073	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05070	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd05067	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd05068	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd05082	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd05034	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd05039	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	230	cd05083	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd05148	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd05072	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	smart00750	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd07850	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd07878	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd07851	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	375	cd05055	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	360	cd05104	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd07845	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	288	cd06614	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd06648	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	985	smart00221	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	257	cd05080	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	333	cd07838	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd05075	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05074	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	258	cd05035	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	679	smart00219	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	446	pfam00069	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	373	cd07830	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd06612	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	461	pfam07714	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd05589	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	308	cd07829	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd06657	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06644	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd06618	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd06611	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06647	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	250	cd06624	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd06607	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd05101	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd07880	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06656	NULL
2260	291327497	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06655	NULL
2260	13186234	Disease	p.Gln764His	136350.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	331	cd05057	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd07845	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	324	cd06614	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	300	cd07878	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	327	cd07851	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	322	cd07850	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	335	cd07852	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	284	cd06648	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd05577	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd05608	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	258	cd05585	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	290	cd06634	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	308	cd07877	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	284	cd05089	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd07858	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	301	cd07849	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	284	cd07864	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd07870	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	303	cd05099	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	305	cd05100	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283_G	cd06659	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	292	cd07880	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd06656	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd06655	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd06607	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd06647	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd07836	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd07863	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd07860	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd05615	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	480	cd07834	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280	cd07857	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd07859	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd05614	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	327	cd07854	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	304	cd07853	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd05583	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd05613	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	310	cd06635	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd07871	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd05630	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	271	cd05632	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd05605	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	329	cd07865	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd06643	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280	cd06611	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283	cd06644	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	313	cd06618	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd05584	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd07844	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265_G	cd06640	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265_G	cd06641	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd06642	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd06654	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd05110	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd05111	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd05088	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd05108	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd07831	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd07848	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	306	cd06609	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	323	cd06615	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd07856	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd07862	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd07847	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd07861	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	264	cd07872	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd05616	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd05587	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd07873	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283	cd06617	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	294	cd06622	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	295	cd06619	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd07837	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1206	COG0515	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd05602	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd07835	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd05588	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	264	cd05582	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd05590	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	258	cd05619	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd05620	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd05593	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd05591	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd05603	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd05592	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd05571	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd05617	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd05594	105990522,NP_075598
2260	120046	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd05589	105990522,NP_075598
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	337	cd07852	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd06656	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd06647	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	294	cd07880	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd06655	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	296	cd06607	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd07845	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	307	cd05100	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	305	cd05099	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	334	cd07851	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302	cd07878	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	325	cd07850	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	330_G	cd07865	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd06643	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd07831	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd07848	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	288	cd05594	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd07835	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd05593	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd05591	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd05582	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	264	cd05590	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd05619	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280	cd05592	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd05571	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd05617	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd05603	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05620	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd05602	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05588	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd07836	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd07863	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd07860	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	320	cd07853	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	330	cd07854	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd07857	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	507	cd07834	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd07859	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05615	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd05583	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd05613	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd05614	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd07837	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd07862	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280_G	cd07847	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd07861	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd06617	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1208	COG0515	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	296	cd06622	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	325	cd06615	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd07873	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	284	cd07856	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	298	cd06619	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd05587	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	308	cd06609	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd07872	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05616	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	312	cd06635	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05589	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd05585	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd05577	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05608	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd06654	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283_G	cd06659	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd07864	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd07870	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd07858	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302_G	cd07849	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd05089	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd05108	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd05088	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd05110	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd06644	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd06611	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	315	cd06618	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd06648	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd07871	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05630	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd05632	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd05605	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd05584	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	292	cd06634	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	315	cd07877	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd06640	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd06641	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd06642	NULL
2260	291327489	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd07844	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	315	cd05100	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	313	cd05099	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	284_G	cd07831	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	301	cd07848	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	301	cd07845	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	297	cd07873	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	303_G	cd06622	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	292	cd07856	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1240	COG0515	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283	cd05587	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd07837	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd07862	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd07847	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd07861	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	303_G	cd06619	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272_G	cd07872	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd05616	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280_G	cd05110	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	298	cd05088	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd05108	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd05584	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd07871	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280	cd05630	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280	cd05632	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd05605	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	284	cd06654	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	336	cd07865	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	333	cd07850	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	310	cd07878	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	344	cd07851	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd05589	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283	cd06656	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283	cd06647	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302	cd07880	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283	cd06655	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	290_G	cd06659	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	281_G	cd07844	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd06640	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd06641	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	290	cd07857	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	331	cd07853	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	299	cd07859	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd05583	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	300	cd05613	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	515	cd07834	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05615	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	338	cd07854	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279_G	cd07836	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275_G	cd07863	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268_G	cd07860	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd05614	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd05585	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280	cd05577	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd05608	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd05089	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	290_G	cd07864	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd07870	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	308	cd07849	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	301	cd07858	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	346_G	cd07852	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	295	cd05603	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd05582	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd05590	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd05619	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	301	cd07835	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd05592	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd05571	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd05617	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	295	cd05593	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	296	cd05594	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	281	cd05620	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd05602	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd05591	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283	cd05588	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	323	cd07877	NULL
2260	291327491	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302	cd06634	NULL
2260	291327495	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2260	13186236	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	337	cd07852	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd06656	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd06647	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	294	cd07880	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd06655	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	296	cd06607	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd07845	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	307	cd05100	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	305	cd05099	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	334	cd07851	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302	cd07878	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	325	cd07850	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	330_G	cd07865	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd06643	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd07831	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd07848	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	288	cd05594	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd07835	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd05593	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd05591	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd05582	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	264	cd05590	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd05619	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280	cd05592	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd05571	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd05617	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd05603	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05620	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd05602	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05588	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd07836	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd07863	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd07860	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	320	cd07853	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	330	cd07854	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd07857	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	507	cd07834	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd07859	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05615	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd05583	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd05613	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd05614	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd07837	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd07862	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280_G	cd07847	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd07861	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd06617	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1208	COG0515	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	296	cd06622	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	325	cd06615	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd07873	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	284	cd07856	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	298	cd06619	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd05587	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	308	cd06609	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd07872	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05616	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	312	cd06635	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05589	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd05585	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd05577	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05608	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd06654	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283_G	cd06659	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd07864	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd07870	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd07858	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302_G	cd07849	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd05089	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd05108	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd05088	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd05110	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd06644	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd06611	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	315	cd06618	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd06648	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd07871	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05630	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd05632	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd05605	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd05584	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	292	cd06634	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	315	cd07877	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd06640	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd06641	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd06642	NULL
2260	13186251	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd07844	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	337	cd07852	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd06656	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd06647	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	294	cd07880	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd06655	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	296	cd06607	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd07845	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	307	cd05100	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	305	cd05099	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	334	cd07851	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302	cd07878	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	325	cd07850	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	330_G	cd07865	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd06643	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd07831	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd07848	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	288	cd05594	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd07835	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd05593	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd05591	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd05582	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	264	cd05590	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd05619	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280	cd05592	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd05571	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd05617	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	287	cd05603	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05620	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd05602	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05588	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd07836	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd07863	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd07860	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	320	cd07853	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	330	cd07854	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd07857	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	507	cd07834	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd07859	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05615	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd05583	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd05613	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd05614	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd07837	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd07862	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	280_G	cd07847	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd07861	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd06617	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1208	COG0515	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	296	cd06622	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	325	cd06615	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd07873	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	284	cd07856	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	298	cd06619	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd05587	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	308	cd06609	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd07872	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05616	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	312	cd06635	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05589	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd05585	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd05577	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd05608	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd06654	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	283_G	cd06659	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd07864	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd07870	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	293	cd07858	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302_G	cd07849	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd05089	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd05108	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd05088	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd05110	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd06644	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd06611	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	315	cd06618	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd06648	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd07871	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	275	cd05630	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd05632	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	285	cd05605	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd05584	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	292	cd06634	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	315	cd07877	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd06640	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd06641	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd06642	NULL
2260	291327493	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd07844	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	264	cd05578	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06630	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	264	cd06632	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd05584	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd06631	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd06639	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	294	cd07843	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	299	cd07852	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd06635	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05108	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	327	cd07866	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05110	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05112	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd05059	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	239	cd05113	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05114	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05111	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd05088	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd05033	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05065	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	309	cd05038	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05079	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd05066	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd06616	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05109	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd06654	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd06625	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd07839	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	380	cd05105	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd06642	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd06640	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd06641	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06613	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd07844	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	291	cd06608	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259_G	cd06658	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd07857	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd05583	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd05613	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd07836	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd07863	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd07860	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	282	cd07854	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	255	cd07859	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	442	cd07834	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	411	cd06606	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd06626	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd08225	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	319	cd08215	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd08223	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd06628	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd08530	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	284	cd06627	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	318	cd07841	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	335	cd05122	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd07853	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd05614	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd08528	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	257	cd06629	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd06651	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd08222	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd08218	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd05045	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05615	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	805	cd05579	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05047	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd05577	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd05608	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	318	cd05572	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	840	cd00180	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	886	cd05123	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05115	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd06917	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd08221	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	228	cd05585	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	262	cd07835	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05603	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd05588	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd05570	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05594	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05041	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd05087	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	255	cd05042	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	252	cd05040	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	232	cd05085	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05084	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	256	cd05044	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	235	cd05116	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd05060	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05591	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	257	cd05076	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd05078	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd05037	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	503	cd00192	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd05077	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd05592	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05571	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	238	cd05617	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd05620	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd05593	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd08220	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05602	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd05086	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd05058	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	292	cd05118	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	233	cd05582	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	231	cd05590	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	227	cd05619	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	255	cd06659	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	419	cd07842	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	288	cd07846	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	243	cd07831	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd07848	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	366	cd07840	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	352	cd07833	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	501	cd05581	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	310	cd08217	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06646	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	249	cd06645	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd07837	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd07862	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd07847	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	237	cd07861	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	306	cd07832	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	322	cd06623	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	251	cd07873	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd06621	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	320	cd06605	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240_G	cd07872	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05616	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd07856	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd06617	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05612	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd06610	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd08229	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd08219	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd06609	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	265	cd06622	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd06615	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1151	COG0515	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	333	cd05580	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd08529	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd08228	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd06619	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd05587	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	1190	smart00220	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd05049	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd05092	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	314	cd05096	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	278	cd05097	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	326	cd05046	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	333	cd05051	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	289	cd05095	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	272	cd05050	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd05064	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd05063	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	308	cd06620	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	322	cd05094	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd05093	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05091	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd05048	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05090	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	362	cd05106	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	269	cd07877	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd06634	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302	cd07865	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd06643	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	247	cd08224	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd07871	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	245	cd05630	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd05632	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd05605	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05081	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	284	cd05043	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd06653	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	270	cd06652	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	382	cd05107	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	320	cd05103	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	369	cd05054	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	318	cd05102	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	302	cd05057	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd06636	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	290	cd05053	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	274	cd05100	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	273	cd05099	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	267	cd06638	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	279	cd05098	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd07858	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd05071	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd06637	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd05036	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	258	cd05062	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	307	cd05032	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd07864	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd07870	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	cd07849	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	259	cd05061	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	255	cd05089	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	277	cd05056	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	242	cd05052	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd05069	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd05073	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	240	cd05070	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd05067	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	246	cd05068	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05082	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd05034	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	244	cd05039	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	234	cd05083	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd05148	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	241	cd05072	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	268	smart00750	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd07850	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	264	cd07878	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	286	cd07851	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	379	cd05055	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	364	cd05104	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	258	cd07845	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	292	cd06614	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	255	cd06648	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	989	smart00221	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	261	cd05080	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	336	cd07838	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd05075	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	252	cd05074	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	263	cd05035	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	683	smart00219	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	450	pfam00069	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	377	cd07830	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	260	cd06612	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	465	pfam07714	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	236	cd05589	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	312	cd07829	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd06657	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd06644	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	266	cd06618	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	248	cd06611	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd06647	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	254	cd06624	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	257	cd06607	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	276	cd05101	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	264	cd07880	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd06656	NULL
2260	291327497	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	253	cd06655	NULL
2260	13186234	Disease	p.Asp768Tyr	136350.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	No Domain	N/A	NULL
2260	120046	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd05736	105990522,NP_075598
2260	291327489	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	75	cd05736	NULL
2260	291327491	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	6	cd05869	NULL
2260	291327491	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	4	cd04968	NULL
2260	291327491	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	7	cd05732	NULL
2260	291327495	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	93	pfam07679	NULL
2260	291327495	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	118	smart00408	NULL
2260	291327495	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	69	cd04968	NULL
2260	291327495	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd05732	NULL
2260	291327495	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	53	cd05725	NULL
2260	291327495	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	54	cd05736	NULL
2260	291327495	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	123	cd00096	NULL
2260	291327495	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	110	pfam07686	NULL
2260	291327495	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	63	cd05765	NULL
2260	291327495	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	68	cd04969	NULL
2260	291327495	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	88	pfam00047	NULL
2260	291327495	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	71	cd05858	NULL
2260	291327495	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	88	cd04974	NULL
2260	291327495	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	55	cd05723	NULL
2260	291327495	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	66	cd05729	NULL
2260	291327495	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	198	smart00409	NULL
2260	291327495	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	198	smart00410	NULL
2260	291327495	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05869	NULL
2260	13186236	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	90	pfam00047	NULL
2260	13186236	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	65	cd05765	NULL
2260	13186236	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	70	cd04969	NULL
2260	13186236	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	73	cd05858	NULL
2260	13186236	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	90	cd04974	NULL
2260	13186236	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd05869	NULL
2260	13186236	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	55	cd05725	NULL
2260	13186236	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	125	cd00096	NULL
2260	13186236	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	56	cd05736	NULL
2260	13186236	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	95	pfam07679	NULL
2260	13186236	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	120	smart00408	NULL
2260	13186236	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	57	cd05723	NULL
2260	13186236	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	82	cd05732	NULL
2260	13186236	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	112	pfam07686	NULL
2260	13186236	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	71	cd04968	NULL
2260	13186236	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	68	cd05729	NULL
2260	13186236	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	200	smart00409	NULL
2260	13186236	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	200	smart00410	NULL
2260	13186251	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd05732	NULL
2260	291327493	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	3	cd05732	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	64	cd05737	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	57_G	cd05728	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	84	pfam07679	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	54	cd05856	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	57	cd05729	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	57	cd05857	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	181	smart00409	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	181	smart00410	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	46	cd05745	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	108	smart00408	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	53	cd05750	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	65	cd05724	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	46	cd05723	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	54_G	cd05765	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	pfam00047	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	42	cd05876	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	42_G	cd05731	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	44	cd05725	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	45	cd05736	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	98	cd00096	NULL
2260	291327497	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	46	cd05763	NULL
2260	13186234	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	93	pfam07679	NULL
2260	13186234	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	118	smart00408	NULL
2260	13186234	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	69	cd04968	NULL
2260	13186234	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	80	cd05732	NULL
2260	13186234	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	53	cd05725	NULL
2260	13186234	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	54	cd05736	NULL
2260	13186234	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	123	cd00096	NULL
2260	13186234	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	110	pfam07686	NULL
2260	13186234	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	63	cd05765	NULL
2260	13186234	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	68	cd04969	NULL
2260	13186234	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	88	pfam00047	NULL
2260	13186234	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	71	cd05858	NULL
2260	13186234	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	88	cd04974	NULL
2260	13186234	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	55	cd05723	NULL
2260	13186234	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	66	cd05729	NULL
2260	13186234	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	198	smart00409	NULL
2260	13186234	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	198	smart00410	NULL
2260	13186234	Disease	p.Arg250Gln	136350.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136350	HYPOGONADOTROPIC HYPOGONADISM	OMIM	78	cd05869	NULL
2328	6166183	Disease	p.Val257Met	136132.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	392	pfam07992	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Val257Met	136132.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	353	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Val257Met	136132.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	256	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Val257Met	136132.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	392	pfam07992	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Val257Met	136132.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	353	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Val257Met	136132.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	256	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Met66Ile	136132.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	82	pfam07992	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Met66Ile	136132.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	86	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Met66Ile	136132.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	65	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Met66Ile	136132.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	82	pfam07992	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Met66Ile	136132.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	86	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Met66Ile	136132.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	65	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Pro153Leu	136132.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	218	pfam07992	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Pro153Leu	136132.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	198	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Pro153Leu	136132.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	152	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Pro153Leu	136132.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	218	pfam07992	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Pro153Leu	136132.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	198	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Pro153Leu	136132.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	152	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Arg492Trp	136132.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	493	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Arg492Trp	136132.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	493	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Arg387Leu	136132.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	516	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Arg387Leu	136132.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	386	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Arg387Leu	136132.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	516	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Arg387Leu	136132.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	386	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Ala52Thr	136132.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	68	pfam07992	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Ala52Thr	136132.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	72	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Ala52Thr	136132.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	51	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Ala52Thr	136132.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	68	pfam07992	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Ala52Thr	136132.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	72	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Ala52Thr	136132.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	51	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Asn61Ser	136132.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	77	pfam07992	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Asn61Ser	136132.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	81	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Asn61Ser	136132.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	60	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Asn61Ser	136132.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	77	pfam07992	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Asn61Ser	136132.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	81	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Asn61Ser	136132.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	60	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Met434Ile	136132.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	435	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Met434Ile	136132.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	435	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Glu32Lys	136132.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	37	pfam07992	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Glu32Lys	136132.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	45	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Glu32Lys	136132.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	31	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Glu32Lys	136132.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	37	pfam07992	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Glu32Lys	136132.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	45	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Glu32Lys	136132.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA	OMIM	31	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Glu308Gly	136132.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA, MILD	OMIM	454	pfam07992	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Glu308Gly	136132.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA, MILD	OMIM	415	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Glu308Gly	136132.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA, MILD	OMIM	307	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Glu308Gly	136132.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA, MILD	OMIM	454	pfam07992	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Glu308Gly	136132.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA, MILD	OMIM	415	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Glu308Gly	136132.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136132	TRIMETHYLAMINURIA, MILD	OMIM	307	pfam00743	50541961,NP_001002294|50541965,NP_008825
2335	47132555	Disease	p.Trp1925Arg	135600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	26	pfam00041	NULL
2335	47132555	Disease	p.Trp1925Arg	135600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	45	cd00063	NULL
2335	47132555	Disease	p.Trp1925Arg	135600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	34	smart00060	NULL
2335	16933542	Disease	p.Trp1925Arg	135600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	26	pfam00041	NULL
2335	16933542	Disease	p.Trp1925Arg	135600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	45	cd00063	NULL
2335	16933542	Disease	p.Trp1925Arg	135600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	34	smart00060	NULL
2335	47132549	Disease	p.Trp1925Arg	135600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	No Domain	N/A	NULL
2335	47132553	Disease	p.Trp1925Arg	135600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	No Domain	N/A	NULL
2335	47132547	Disease	p.Trp1925Arg	135600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	No Domain	N/A	NULL
2335	47132557	Disease	p.Trp1925Arg	135600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	24	pfam00041	NULL
2335	47132557	Disease	p.Trp1925Arg	135600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	30	smart00060	NULL
2335	47132557	Disease	p.Trp1925Arg	135600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	43	cd00063	NULL
2335	47132555	Disease	p.Leu1974Arg	135600.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	103	pfam00041	NULL
2335	47132555	Disease	p.Leu1974Arg	135600.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	160	cd00063	NULL
2335	47132555	Disease	p.Leu1974Arg	135600.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	180	smart00060	NULL
2335	16933542	Disease	p.Leu1974Arg	135600.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	103	pfam00041	NULL
2335	16933542	Disease	p.Leu1974Arg	135600.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	160	cd00063	NULL
2335	16933542	Disease	p.Leu1974Arg	135600.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	180	smart00060	NULL
2335	47132549	Disease	p.Leu1974Arg	135600.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	No Domain	N/A	NULL
2335	47132553	Disease	p.Leu1974Arg	135600.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	No Domain	N/A	NULL
2335	47132547	Disease	p.Leu1974Arg	135600.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	No Domain	N/A	NULL
2335	47132557	Disease	p.Leu1974Arg	135600.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	102	pfam00041	NULL
2335	47132557	Disease	p.Leu1974Arg	135600.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	179	smart00060	NULL
2335	47132557	Disease	p.Leu1974Arg	135600.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	159	cd00063	NULL
2335	47132555	Disease	p.Tyr983Cys	135600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	187	smart00060	NULL
2335	47132555	Disease	p.Tyr983Cys	135600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	171	cd00063	NULL
2335	47132555	Disease	p.Tyr983Cys	135600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	109	pfam00041	NULL
2335	16933542	Disease	p.Tyr983Cys	135600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	187	smart00060	NULL
2335	16933542	Disease	p.Tyr983Cys	135600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	171	cd00063	NULL
2335	16933542	Disease	p.Tyr983Cys	135600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	109	pfam00041	NULL
2335	47132549	Disease	p.Tyr983Cys	135600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	187	smart00060	NULL
2335	47132549	Disease	p.Tyr983Cys	135600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	171	cd00063	NULL
2335	47132549	Disease	p.Tyr983Cys	135600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	109	pfam00041	NULL
2335	47132553	Disease	p.Tyr983Cys	135600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	187	smart00060	NULL
2335	47132553	Disease	p.Tyr983Cys	135600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	171	cd00063	NULL
2335	47132553	Disease	p.Tyr983Cys	135600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	109	pfam00041	NULL
2335	47132547	Disease	p.Tyr983Cys	135600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	No Domain	N/A	NULL
2335	47132557	Disease	p.Tyr983Cys	135600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	187	smart00060	NULL
2335	47132557	Disease	p.Tyr983Cys	135600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	171	cd00063	NULL
2335	47132557	Disease	p.Tyr983Cys	135600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=135600	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2	OMIM	109	pfam00041	NULL
2261	120050	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	No Domain	N/A	4503711,NP_000133
2261	254028242	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	No Domain	N/A	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	6	smart00220	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	29	cd07865	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd06622	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd06629	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd07836	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd06615	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19	cd06609	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd05580	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd07862	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd07847	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd06619	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	60	COG0515	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	27	cd07856	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17_G	cd06617	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19	cd08229	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19	cd08228	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd05612	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd06623	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	54	cd05107	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	54	cd05105	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	42	cd06635	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd07864	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05052	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd07854	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd07871	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05069	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd07870	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd07873	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05062	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05036	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	25	cd05032	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05061	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd07872	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19	cd05089	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd07844	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05067	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05034	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05068	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05073	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05070	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05039	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05148	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05082	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05083	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05072	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05056	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05071	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd07858	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	10	cd05608	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05577	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	10	cd05572	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	13	cd00180	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	20	cd06612	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	10	cd05123	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05047	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05115	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd08221	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	10	cd05579	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05045	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd07863	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd08218	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd08223	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd06630	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd06628	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd08530	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05578	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19	cd08528	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd07860	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd07861	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd06631	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd08215	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05587	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd08219	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd07832	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd05122	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19	cd07834	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd08222	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05616	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05615	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd06606	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd06626	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd08225	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05583	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd07841	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd06627	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd06632	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	16	cd07853	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd07857	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd06608	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05605	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	39	cd06639	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	37	cd06654	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd07846	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	15	cd08216	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd06917	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd07833	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	16	cd07831	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd07842	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19	cd06625	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	38	cd07876	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	39	cd06658	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	32	cd07878	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	33	cd07850	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	32	cd07851	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	38	cd06659	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	29	cd05099	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd06643	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	29	cd05053	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	29	cd05100	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	25	cd06624	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	35	cd05098	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	13	cd05584	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	16	cd05074	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd06621	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	16	cd05075	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	16	cd05035	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	16	cd07835	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	16	cd05589	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	20	pfam07714	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	pfam00069	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	16	cd07830	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	16	smart00219	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd06605	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	16	smart00221	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	16	cd07838	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	36	cd06655	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd06611	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05094	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05093	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05064	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05063	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05048	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05090	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05091	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	26	cd06645	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05092	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	30	cd05051	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05046	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05095	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05096	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05050	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd06636	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05097	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05049	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	32	cd06618	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	37	cd06614	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	32	cd07880	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	32	cd05101	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd05103	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd05102	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd05054	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	35	cd05057	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	37	cd06657	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05571	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	13	cd05582	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05588	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	16	cd05118	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05085	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05041	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05040	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd08220	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05044	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05084	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05620	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05619	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05592	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05570	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd08217	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05594	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05590	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05116	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05060	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05077	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05037	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd00192	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05078	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05076	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05087	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05058	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05086	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05042	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05591	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05595	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	cd05593	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd05109	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21	cd05065	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd05033	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	20_G	cd05079	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	20_G	cd05081	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21	cd05066	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd05043	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21	cd06616	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd05108	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd05088	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd05110	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	26	cd07866	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23_G	cd05111	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21	cd05080	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21	cd05113	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21	cd05112	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21	cd05059	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21	cd05114	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21	cd06640	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21	cd06641	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	26	cd06646	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	52	cd05104	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	54	cd05055	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	55	cd05106	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05038	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21	cd06642	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	20	cd06613	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd08529	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd07839	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd06610	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	25	cd05581	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	14	cd06637	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	20	cd07840	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd07829	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd07845	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	35	cd06638	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19	cd06651	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19	cd06652	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19	cd08224	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19	cd06653	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd07837	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	36	cd06656	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	36	cd06647	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	32	cd06634	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	32	cd06607	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	29	cd06644	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	34	cd07877	NULL
2261	13112048	Disease	p.Gly375Cys	134934.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	36	cd06648	NULL
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	793	COG0515	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	156_G	cd05612	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	167	cd07856	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd07836	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	155	cd06615	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	187	cd06609	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	172	cd06619	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	172	cd06622	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	212	cd06623	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd08228	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	161	cd06617	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	166	cd07862	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	166	cd07847	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	167	cd06629	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	227_G	cd05580	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd08229	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	181	cd07876	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	175	cd07837	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	163	cd06653	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	161	cd06651	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	185_G	cd06652	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	160	cd08224	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	173	cd06654	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	198	cd05098	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	223	cd05051	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	243	cd05046	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	199	cd05095	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	225	cd05096	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	191	cd05050	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	179	cd06636	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	189	cd05097	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	190	cd05049	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	180	cd05092	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	164	cd06645	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	181	cd05094	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	178	cd05093	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	165	cd05064	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	166	cd05063	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	185	cd05048	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	182	cd05090	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	182	cd05091	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	98	smart00750	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	185	cd07865	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	185	cd05045	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	166	cd07863	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	161	cd07853	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	232	cd07834	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	168	cd07857	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	163	cd05583	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd05616	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	181	cd08528	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	166	cd08530	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	164	cd05578	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	164	cd05587	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	164	cd08222	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	198	cd05122	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159_G	cd05605	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	201	cd06608	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	162	cd06631	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	234_G	cd08215	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	274	cd06606	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	155_G	cd06626	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	160	cd08225	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd08218	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	160	cd08223	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd06630	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	166	cd06628	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	175	cd07841	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	165	cd06627	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	173_G	cd06632	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	156	cd07860	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159_G	cd07861	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	158	cd05615	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	158	cd08219	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	181_G	cd07832	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	195	cd05056	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	160	cd07872	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	158	cd07870	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	168	cd07858	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	184	cd07854	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	178	cd05061	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	161	cd05052	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	160	cd05067	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	167	cd05034	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	165	cd05068	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	161	cd05073	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	160	cd05070	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	160	cd05039	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	162	cd05148	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	160	cd05082	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	153	cd05083	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	160	cd05072	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	160	cd05069	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	177	cd05062	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	180	cd05036	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	222	cd05032	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	174	cd05089	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd07844	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd07871	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	160	cd07873	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	160	cd05071	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	176	cd07864	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	170_G	cd07878	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	174	cd06659	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	177	cd07850	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	189	cd07851	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	172	cd06647	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	172	cd06656	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	164	cd06646	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd06640	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd06641	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	161	cd06613	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	191	cd05038	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd06642	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	193	cd06639	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	172_G	cd07877	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	173	cd06634	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	173	cd06607	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	174	cd06648	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	167	cd06644	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	162	cd05584	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	282	cd05104	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	297	cd05055	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	280	cd05106	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	221	cd05057	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	174	cd06657	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	238	cd05103	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	236	cd05102	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	287	cd05054	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	189	cd07866	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	167_G	cd05109	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	179	cd05088	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	157	cd05112	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	158	cd05113	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd05059	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	157	cd05114	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	167	cd05065	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	200	cd05033	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	168	cd05079	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	167	cd05081	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	165	cd05066	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	203	cd05043	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	167	cd05108	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	167	cd05110	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	167	cd05111	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	171	cd06616	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	166	cd05080	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	164	cd08529	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	169	cd06637	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	171	cd06610	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd07839	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	208	cd07840	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	200_G	cd07829	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	390	cd05581	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	162	cd06611	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	172	cd06655	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	167	cd07852	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	171_G	cd07843	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	268	cd07842	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	161	cd06625	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	161	cd07846	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	155_G	cd07831	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	167	cd08216	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	193	cd07833	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	170	cd06917	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	153	cd05593	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	153	cd05595	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	154	cd05590	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	154	cd05570	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	166	cd05077	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	183	cd05037	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	387	cd00192	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	168	cd05078	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	180	cd05076	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	237_G	cd08217	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	171	cd05118	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	169	cd05620	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	152	cd05619	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	169	cd05592	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	151	cd05085	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	154	cd05041	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	167	cd05040	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	167	cd08220	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	175	cd05044	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	152	cd05084	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	163	cd05087	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	163	cd05058	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	161	cd05042	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	158	cd05086	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	152	cd05571	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	154	cd05582	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	152	cd05588	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	154	cd05594	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	154	cd05591	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	154	cd05116	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	161	cd05060	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	176	cd06658	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	336	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	285	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	241_G	cd07830	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	528	smart00219	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	695	smart00221	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	184_G	cd07835	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	157	cd05589	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	171	cd05074	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	175_G	cd06621	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	185	cd05075	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	181	cd05035	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	179	cd07838	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	175	cd06605	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	199_G	cd06614	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	195	cd05101	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	170_G	cd07880	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	174	cd06618	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	661	smart00220	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	183	cd06635	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	298	cd05105	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	300	cd05107	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	172	cd06624	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	165	cd06643	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	192	cd05100	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	192	cd05099	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	208	cd05053	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	182	cd06638	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	179	cd07845	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	155	cd05577	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	227	cd05572	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	616	cd00180	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	174	cd06612	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	162	cd08221	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	150	cd05579	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	674	cd05123	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	154	cd05115	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	153	cd05608	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	167	cd05047	4503711,NP_000133
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	189	cd05038	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	157	cd06642	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd06613	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	196	cd05098	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	187	cd07866	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	165	cd05110	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	164	cd05080	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	156	cd05113	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	155	cd05112	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	157	cd05059	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	155	cd05114	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	201	cd05043	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	165	cd05111	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	177	cd05088	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	167	cd05109	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	169	cd06616	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	165	cd05065	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	198	cd05033	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	166	cd05079	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	165	cd05081	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	163	cd05066	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	165	cd05108	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	180	cd07865	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	179	cd07876	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	236	cd05103	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	234	cd05102	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	285	cd05054	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	219	cd05057	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	172	cd06657	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	280	cd05104	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	295	cd05055	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	278	cd05106	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	170	cd06655	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	160_G	cd06611	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	657	smart00220	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	199_G	cd06614	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	172_G	cd06618	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	170_G	cd07880	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	193	cd05101	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	161	cd06653	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd06651	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	158	cd08224	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	173	cd07837	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	185_G	cd06652	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	180	cd06638	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	177	cd07845	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	172	cd06648	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	171	cd06634	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	172_G	cd07877	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	165_G	cd06644	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	171	cd06607	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	171	cd06654	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	165	cd07852	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	171_G	cd07843	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	160	cd05584	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	179	cd05094	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	176	cd05093	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	178	cd05092	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	163	cd05064	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	164	cd05063	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	183	cd05048	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	221	cd05051	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	242	cd05046	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	197	cd05095	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	223	cd05096	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	189	cd05050	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	177	cd06636	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	187	cd05097	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	188	cd05049	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	162	cd06645	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	180	cd05090	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	180	cd05091	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	225	cd05572	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	456	cd00180	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	172	cd06612	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	672	cd05123	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	152	cd05115	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	151	cd05608	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	165	cd05047	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	160	cd08221	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	148	cd05579	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	153	cd05577	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	155_G	cd07831	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	168	cd06917	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd07846	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	183	cd07833	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	266	cd07842	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd06625	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	165	cd08216	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	296	cd05105	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	298	cd05107	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	181	cd06635	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	162	cd06646	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	157	cd06640	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	157	cd06641	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	172	cd05089	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	176	cd05061	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	174	cd07864	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	158	cd05071	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	158	cd07873	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	156	cd07870	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	158	cd07872	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	182	cd07854	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd05052	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	175	cd05062	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	178	cd05036	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	220	cd05032	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	193	cd05056	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	166	cd07858	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	158	cd05069	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	157	cd07871	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	157	cd07844	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	158	cd05067	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	165	cd05034	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	163	cd05068	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd05073	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	158	cd05070	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159_G	cd05039	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	160	cd05148	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	158	cd05082	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	151_G	cd05083	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	158	cd05072	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	155	cd05589	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	177	cd07838	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	334	pfam07714	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	283	pfam00069	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	241	cd07830	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	526	smart00219	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	169	cd05074	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	175	cd06621	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	183	cd05075	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	179	cd05035	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	173	cd06605	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	693	smart00221	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	184	cd07835	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	190	cd05099	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	206	cd05053	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	170	cd06624	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	163	cd06643	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	190	cd05100	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	174	cd06658	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	165	cd07857	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	156	cd08219	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	180	cd07832	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	164	cd07863	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	161	cd05583	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	157	cd05616	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	164	cd08530	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	162	cd05578	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	162	cd08222	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	158	cd05605	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	162	cd05587	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	230	cd07834	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd07853	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	173	cd07841	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	163	cd06627	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	173_G	cd06632	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	183	cd05045	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	179	cd08528	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	157	cd08218	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	158	cd08223	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	157	cd06630	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	164	cd06628	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	196	cd05122	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	199	cd06608	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	272	cd06606	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	155_G	cd06626	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	158	cd08225	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	156	cd05615	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	154	cd07860	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd07861	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	160	cd06631	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	234	cd08215	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	169	cd06610	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	162	cd08529	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	206	cd07840	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	200_G	cd07829	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	167	cd06637	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	388	cd05581	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	157	cd07839	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	170	cd06619	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	157	cd08228	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	157	cd08229	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd06617	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	157	cd07836	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	154_G	cd06615	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	185	cd06609	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	227_G	cd05580	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	165	cd06629	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	156_G	cd05612	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	727	COG0515	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	164	cd07862	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	164	cd07847	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	170	cd06622	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	205	cd06623	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	165	cd07856	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	191	cd06639	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	172	cd06659	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	170_G	cd07878	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	175	cd07850	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	188_G	cd07851	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	96	smart00750	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	170	cd06647	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	170	cd06656	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	152	cd05591	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	161	cd05087	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	161	cd05058	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd05042	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	156	cd05086	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	152	cd05116	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	159	cd05060	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	151	cd05595	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	169	cd05118	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	149	cd05085	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	152	cd05041	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	165	cd05040	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	165_G	cd08220	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	173	cd05044	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	150	cd05084	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	152	cd05594	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	164	cd05077	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	181	cd05037	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	385	cd00192	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	166	cd05078	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	178	cd05076	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	150	cd05571	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	152	cd05582	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	150	cd05588	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	152	cd05570	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	167	cd05620	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	150	cd05619	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	167	cd05592	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	152	cd05590	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	237	cd08217	NULL
2261	254028242	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	151	cd05593	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	310	cd06622	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	286	cd07836	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	317	cd06615	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	307	cd06609	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	354	cd05580	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	270	cd07862	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	279	cd07847	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	295	cd06619	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	1243	COG0515	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	285_G	cd07856	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	283	cd06617	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	270	cd05612	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	291	cd06635	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	302	cd07864	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	320	cd07854	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	276	cd07871	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	286	cd07870	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	271	cd07873	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	277	cd07872	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	284	cd05089	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	272	cd07844	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	299	cd07858	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	267	cd05608	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	282	cd07863	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	259	cd07860	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	268	cd07861	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	272	cd05587	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	272	cd05616	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	308	cd05615	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	284	cd05583	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	349	cd07853	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	271	cd05605	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	286	cd06654	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	282	cd07846	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	314	cd07876	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	296_G	cd07878	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	322	cd07850	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	327	cd07851	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	285	cd06659	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	303	cd05099	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	276	cd06643	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	305	cd05100	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	292	cd05584	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	291	cd07835	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	274	cd05589	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	285	cd06655	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	280	cd06611	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	307	cd06618	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	324	cd06614	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	297	cd07880	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	331	cd05057	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	287	cd06657	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	267	cd05571	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	269	cd05582	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	277	cd05588	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	278	cd05620	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	280	cd05619	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	283	cd05592	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	308	cd05570	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	286	cd05594	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	261	cd05590	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	270	cd05591	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	303	cd05595	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	285	cd05593	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	298	cd06616	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	277	cd05108	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	289	cd05088	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	285	cd05110	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	277	cd05111	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	268	cd06640	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	268	cd06641	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	268	cd06642	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	276	cd07839	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	358	cd07852	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	277	cd07837	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	273	cd06656	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	285	cd06647	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	288	cd06634	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	306	cd06607	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	283	cd06644	NULL
2261	13112048	Disease	p.Lys650Glu	134934.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC	OMIM	308	cd07877	NULL
2261	120050	Disease	p.Arg248Cys	134934.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||MULTIPLE MYELOMA, SOMATIC||SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS||NEVUS, EPIDERMAL	OMIM	No Domain	N/A	4503711,NP_000133
2261	254028242	Disease	p.Arg248Cys	134934.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||MULTIPLE MYELOMA, SOMATIC||SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS||NEVUS, EPIDERMAL	OMIM	No Domain	N/A	NULL
2261	13112048	Disease	p.Arg248Cys	134934.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||MULTIPLE MYELOMA, SOMATIC||SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS||NEVUS, EPIDERMAL	OMIM	No Domain	N/A	NULL
2261	120050	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	No Domain	N/A	4503711,NP_000133
2261	254028242	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	No Domain	N/A	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	2	smart00220	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	25	cd07865	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd06622	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd06629	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd07836	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd06615	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd06609	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd05580	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd07862	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd07847	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd06619	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	55	COG0515	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	23	cd07856	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd06617	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd08229	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd08228	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd05612	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd06623	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	50	cd05107	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	50	cd05105	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	38	cd06635	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd07864	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05052	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd07854	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd07871	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05069	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd07870	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd07873	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05062	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05036	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd05032	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05061	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd07872	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd05089	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd07844	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05067	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05034	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05068	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05073	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05070	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05039	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05148	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05082	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05083	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05072	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05056	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05071	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd07858	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	6	cd05608	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	6	cd05577	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	6	cd05572	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	6	cd00180	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd06612	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	6	cd05123	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05047	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05115	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd08221	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	6	cd05579	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd05045	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd07863	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd08218	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd08223	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd06630	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd06628	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd08530	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd05578	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd08528	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd07860	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd07861	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd06631	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd08215	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd05587	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd08219	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd07832	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05122	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd07834	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd08222	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd05616	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd05615	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd06606	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd06626	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd08225	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd05583	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd07841	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd06627	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd06632	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd07853	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd07857	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd06608	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd05605	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	35	cd06639	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	33	cd06654	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd07846	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	11	cd08216	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd06917	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd07833	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	12	cd07831	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd07842	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd06625	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	34	cd07876	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	35	cd06658	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	28	cd07878	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	29	cd07850	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	28	cd07851	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	34	cd06659	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	25	cd05099	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd06643	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	25	cd05053	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	25	cd05100	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd06624	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	31	cd05098	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	9	cd05584	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	12	cd05074	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd06621	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	12	cd05075	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	12	cd05035	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	12	cd07835	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	12	cd05589	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	pfam07714	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	12	pfam00069	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	12	cd07830	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	12	smart00219	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd06605	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	12	smart00221	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	12	cd07838	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	32	cd06655	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd06611	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd05094	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd05093	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd05064	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd05063	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd05048	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd05090	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd05091	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	22	cd06645	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd05092	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	26	cd05051	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd05046	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd05095	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd05096	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd05050	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd06636	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd05097	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd05049	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	28	cd06618	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	33	cd06614	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	28	cd07880	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	28	cd05101	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05103	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05102	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05054	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	31	cd05057	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	33	cd06657	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05571	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	9	cd05582	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05588	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	12	cd05118	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05085	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05041	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05040	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd08220	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05044	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05084	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05620	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05619	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05592	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05570	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd08217	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05594	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05590	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05116	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05060	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05077	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05037	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd00192	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05078	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05076	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05087	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05058	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05086	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05042	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05591	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05595	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05593	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05109	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd05065	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd05033	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd05079	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd05081	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd05066	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05043	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd06616	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05108	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05088	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05110	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	22	cd07866	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05111	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd05080	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd05113	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd05112	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd05059	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd05114	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd06640	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd06641	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	22	cd06646	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	48	cd05104	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	50	cd05055	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	51	cd05106	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd05038	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd06642	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd06613	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd08529	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd07839	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd06610	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd05581	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd06637	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd07840	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd07829	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd07845	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	31	cd06638	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd06651	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd06652	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd08224	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd06653	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd07837	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	32	cd06656	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	32	cd06647	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	28	cd06634	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	28	cd06607	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	25	cd06644	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	30	cd07877	NULL
2261	13112048	Disease	p.Ser371Cys	134934.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	32	cd06648	NULL
2261	120050	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	No Domain	N/A	4503711,NP_000133
2261	254028242	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	No Domain	N/A	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	56	smart00220	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	39	cd07865	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	27	cd06622	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	34	cd06629	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	26	cd07836	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	27	cd06615	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	40	cd06609	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	74	cd05580	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28	cd07862	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28	cd07847	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	48	cd06619	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	193	COG0515	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	36	cd07856	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	26	cd06617	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	35	cd08229	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	35	cd08228	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28	cd05612	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	35	cd06623	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	68	cd05107	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	68	cd05105	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	58	cd06635	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	40	cd07864	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	32_G	cd05052	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	32_G	cd07854	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	31_G	cd07871	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	32_G	cd05069	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	31	cd07870	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	32_G	cd07873	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	37	cd05062	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	37	cd05036	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	68	cd05032	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	37	cd05061	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	32_G	cd07872	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	30	cd05089	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	31_G	cd07844	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	32_G	cd05067	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	31	cd05034	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	31	cd05068	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	31	cd05073	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	32_G	cd05070	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	30_G	cd05039	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	32	cd05148	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	30	cd05082	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	30_G	cd05083	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	32_G	cd05072	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	59	cd05056	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	32_G	cd05071	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	39	cd07858	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	24_G	cd05608	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	30_G	cd05577	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	68	cd05572	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	59	cd00180	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	36	cd06612	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	39	cd05123	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	23	cd05047	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	23	cd05115	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	26	cd08221	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	19_G	cd05579	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	31	cd05045	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	33	cd07863	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	33	cd08218	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	27	cd08223	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	33	cd06630	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	33	cd06628	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	31_G	cd08530	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	27	cd05578	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	43	cd08528	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	27	cd07860	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	27	cd07861	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	30_G	cd06631	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	36	cd08215	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	26_G	cd05587	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	33	cd08219	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28	cd07832	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	41	cd05122	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	44	cd07834	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	27	cd08222	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	26_G	cd05616	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	26_G	cd05615	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	39	cd06606	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28_G	cd06626	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	29	cd08225	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	29	cd05583	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28	cd07841	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	27_G	cd06627	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	33	cd06632	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	26_G	cd07853	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28_G	cd07857	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	34_G	cd06608	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	31_G	cd05605	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	52	cd06639	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	51_G	cd06654	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28	cd07846	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28	cd08216	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	27_G	cd06917	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	29	cd07833	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	26_G	cd07831	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	106	cd07842	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	35	cd06625	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	47	cd07876	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	53_G	cd06658	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	48	cd07878	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	48_G	cd07850	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	48	cd07851	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	48_G	cd06659	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	45	cd05099	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	31	cd06643	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	45	cd05053	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	45	cd05100	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	34	cd06624	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	51	cd05098	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	29	cd05584	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	29_G	cd05074	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	30	cd06621	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28_G	cd05075	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	38	cd05035	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28	cd07835	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	25_G	cd05589	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	49	pfam07714	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	35	pfam00069	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	58	cd07830	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	97	smart00219	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	27_G	cd06605	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	93	smart00221	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28	cd07838	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	52	cd06655	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	32	cd06611	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	36	cd05094	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	36	cd05093	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	34	cd05064	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	35	cd05063	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	37	cd05048	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	35_G	cd05090	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	36_G	cd05091	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	35_G	cd06645	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	36	cd05092	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	67	cd05051	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	96	cd05046	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	50	cd05095	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	47	cd05096	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	36	cd05050	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	41	cd06636	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	47	cd05097	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	36_G	cd05049	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	41	cd06618	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	58	cd06614	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	42_G	cd07880	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	48	cd05101	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	38_G	cd05103	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	38_G	cd05102	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	38_G	cd05054	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	57	cd05057	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	46_G	cd06657	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28	cd05571	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	25_G	cd05582	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	26_G	cd05588	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	25	cd05118	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	22_G	cd05085	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	21	cd05041	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	25	cd05040	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28	cd08220	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	27	cd05044	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	21	cd05084	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	21	cd05620	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	21_G	cd05619	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28	cd05592	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	21_G	cd05570	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	27	cd08217	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28	cd05594	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	21_G	cd05590	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	23	cd05116	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28	cd05060	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	33	cd05077	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	45	cd05037	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	68	cd00192	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28	cd05078	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	45	cd05076	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	23	cd05087	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	31	cd05058	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	24_G	cd05086	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	27_G	cd05042	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	21_G	cd05591	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28	cd05595	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28	cd05593	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	37	cd05109	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	33	cd05065	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	57	cd05033	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	34	cd05079	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	34	cd05081	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	33	cd05066	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	50	cd05043	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	37	cd06616	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	37	cd05108	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	35	cd05088	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	37	cd05110	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	42	cd07866	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	37	cd05111	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	34	cd05080	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	29	cd05113	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	30_G	cd05112	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	30_G	cd05059	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	29	cd05114	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	30_G	cd06640	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	30_G	cd06641	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	35_G	cd06646	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	66	cd05104	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	68	cd05055	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	70	cd05106	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	37_G	cd05038	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	31	cd06642	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	29_G	cd06613	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	26	cd08529	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	27	cd07839	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28_G	cd06610	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	72	cd05581	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	31	cd06637	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	49	cd07840	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	28	cd07829	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	33	cd07843	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	34	cd07852	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	34	cd07845	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	45_G	cd06638	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	35	cd06651	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	35	cd06652	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	29	cd08224	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	35	cd06653	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	27_G	cd07837	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	50_G	cd06656	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	50_G	cd06647	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	43	cd06634	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	41_G	cd06607	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	38	cd06644	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	44_G	cd07877	NULL
2261	13112048	Disease	p.Ala391Glu	134934.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	OMIM	45_G	cd06648	NULL
2261	120050	Disease	p.Pro250Arg	134934.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	MUENKE SYNDROME||SAETHRE-CHOTZEN SYNDROME||BEARE-STEVENSON SYNDROME-LIKE ANOMALIES	OMIM	3	cd05732	4503711,NP_000133
2261	254028242	Disease	p.Pro250Arg	134934.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	MUENKE SYNDROME||SAETHRE-CHOTZEN SYNDROME||BEARE-STEVENSON SYNDROME-LIKE ANOMALIES	OMIM	3	cd05732	NULL
2261	13112048	Disease	p.Pro250Arg	134934.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	MUENKE SYNDROME||SAETHRE-CHOTZEN SYNDROME||BEARE-STEVENSON SYNDROME-LIKE ANOMALIES	OMIM	No Domain	N/A	NULL
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	793	COG0515	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	156_G	cd05612	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd07856	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd07836	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	155	cd06615	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	187	cd06609	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	172	cd06619	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	172	cd06622	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	212	cd06623	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd08228	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd06617	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	166	cd07862	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	166	cd07847	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd06629	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	227_G	cd05580	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd08229	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	181	cd07876	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	175	cd07837	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	163	cd06653	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd06651	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	185_G	cd06652	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd08224	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	173	cd06654	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	198	cd05098	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	223	cd05051	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	243	cd05046	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	199	cd05095	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	225	cd05096	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	191	cd05050	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	179	cd06636	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	189	cd05097	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	190	cd05049	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	180	cd05092	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd06645	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	181	cd05094	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	178	cd05093	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd05064	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	166	cd05063	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	185	cd05048	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	182	cd05090	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	182	cd05091	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	98	smart00750	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	185	cd07865	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	185	cd05045	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	166	cd07863	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd07853	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	232	cd07834	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	168	cd07857	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	163	cd05583	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd05616	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	181	cd08528	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	166	cd08530	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd05578	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd05587	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd08222	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	198	cd05122	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159_G	cd05605	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	201	cd06608	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd06631	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	234_G	cd08215	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	274	cd06606	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	155_G	cd06626	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd08225	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd08218	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd08223	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd06630	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	166	cd06628	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	175	cd07841	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd06627	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	173_G	cd06632	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	156	cd07860	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159_G	cd07861	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	158	cd05615	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	158	cd08219	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	181_G	cd07832	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	195	cd05056	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd07872	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	158	cd07870	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	168	cd07858	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	184	cd07854	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	178	cd05061	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd05052	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd05067	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd05034	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd05068	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd05073	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd05070	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd05039	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd05148	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd05082	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	153	cd05083	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd05072	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd05069	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	177	cd05062	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	180	cd05036	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	222	cd05032	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	174	cd05089	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd07844	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd07871	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd07873	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd05071	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	176	cd07864	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	170_G	cd07878	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	174	cd06659	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	177	cd07850	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	189	cd07851	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	172	cd06647	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	172	cd06656	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd06646	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd06640	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd06641	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd06613	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	191	cd05038	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd06642	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	193	cd06639	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	172_G	cd07877	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	173	cd06634	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	173	cd06607	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	174	cd06648	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd06644	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd05584	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	282	cd05104	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	297	cd05055	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	280	cd05106	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	221	cd05057	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	174	cd06657	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	238	cd05103	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	236	cd05102	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	287	cd05054	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	189	cd07866	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167_G	cd05109	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	179	cd05088	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	157	cd05112	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	158	cd05113	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd05059	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	157	cd05114	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd05065	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	200	cd05033	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	168	cd05079	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd05081	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd05066	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	203	cd05043	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd05108	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd05110	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd05111	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	171	cd06616	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	166	cd05080	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd08529	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	169	cd06637	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	171	cd06610	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd07839	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	208	cd07840	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	200_G	cd07829	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	390	cd05581	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd06611	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	172	cd06655	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd07852	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	171_G	cd07843	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	268	cd07842	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd06625	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd07846	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	155_G	cd07831	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd08216	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	193	cd07833	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	170	cd06917	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	153	cd05593	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	153	cd05595	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	154	cd05590	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	154	cd05570	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	166	cd05077	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	183	cd05037	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	387	cd00192	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	168	cd05078	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	180	cd05076	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	237_G	cd08217	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	171	cd05118	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	169	cd05620	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	152	cd05619	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	169	cd05592	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	151	cd05085	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	154	cd05041	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd05040	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd08220	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	175	cd05044	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	152	cd05084	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	163	cd05087	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	163	cd05058	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd05042	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	158	cd05086	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	152	cd05571	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	154	cd05582	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	152	cd05588	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	154	cd05594	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	154	cd05591	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	154	cd05116	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd05060	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	176	cd06658	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	336	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	285	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	241_G	cd07830	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	528	smart00219	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	695	smart00221	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	184_G	cd07835	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	157	cd05589	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	171	cd05074	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	175_G	cd06621	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	185	cd05075	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	181	cd05035	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	179	cd07838	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	175	cd06605	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	199_G	cd06614	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	195	cd05101	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	170_G	cd07880	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	174	cd06618	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	661	smart00220	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	183	cd06635	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	298	cd05105	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	300	cd05107	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	172	cd06624	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd06643	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	192	cd05100	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	192	cd05099	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	208	cd05053	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	182	cd06638	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	179	cd07845	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	155	cd05577	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	227	cd05572	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	616	cd00180	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	174	cd06612	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd08221	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	150	cd05579	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	674	cd05123	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	154	cd05115	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	153	cd05608	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd05047	4503711,NP_000133
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	189	cd05038	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	157	cd06642	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd06613	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	196	cd05098	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	187	cd07866	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd05110	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd05080	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	156	cd05113	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	155	cd05112	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	157	cd05059	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	155	cd05114	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	201	cd05043	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd05111	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	177	cd05088	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd05109	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	169	cd06616	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd05065	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	198	cd05033	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	166	cd05079	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd05081	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	163	cd05066	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd05108	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	180	cd07865	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	179	cd07876	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	236	cd05103	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	234	cd05102	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	285	cd05054	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	219	cd05057	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	172	cd06657	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	280	cd05104	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	295	cd05055	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	278	cd05106	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	170	cd06655	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160_G	cd06611	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	657	smart00220	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	199_G	cd06614	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	172_G	cd06618	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	170_G	cd07880	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	193	cd05101	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd06653	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd06651	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	158	cd08224	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	173	cd07837	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	185_G	cd06652	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	180	cd06638	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	177	cd07845	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	172	cd06648	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	171	cd06634	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	172_G	cd07877	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165_G	cd06644	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	171	cd06607	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	171	cd06654	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd07852	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	171_G	cd07843	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd05584	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	179	cd05094	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	176	cd05093	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	178	cd05092	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	163	cd05064	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd05063	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	183	cd05048	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	221	cd05051	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	242	cd05046	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	197	cd05095	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	223	cd05096	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	189	cd05050	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	177	cd06636	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	187	cd05097	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	188	cd05049	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd06645	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	180	cd05090	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	180	cd05091	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	225	cd05572	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	456	cd00180	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	172	cd06612	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	672	cd05123	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	152	cd05115	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	151	cd05608	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd05047	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd08221	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	148	cd05579	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	153	cd05577	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	155_G	cd07831	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	168	cd06917	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd07846	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	183	cd07833	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	266	cd07842	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd06625	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd08216	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	296	cd05105	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	298	cd05107	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	181	cd06635	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd06646	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	157	cd06640	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	157	cd06641	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	172	cd05089	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	176	cd05061	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	174	cd07864	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	158	cd05071	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	158	cd07873	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	156	cd07870	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	158	cd07872	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	182	cd07854	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd05052	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	175	cd05062	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	178	cd05036	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	220	cd05032	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	193	cd05056	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	166	cd07858	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	158	cd05069	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	157	cd07871	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	157	cd07844	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	158	cd05067	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd05034	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	163	cd05068	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd05073	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	158	cd05070	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159_G	cd05039	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd05148	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	158	cd05082	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	151_G	cd05083	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	158	cd05072	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	155	cd05589	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	177	cd07838	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	334	pfam07714	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	283	pfam00069	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	241	cd07830	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	526	smart00219	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	169	cd05074	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	175	cd06621	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	183	cd05075	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	179	cd05035	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	173	cd06605	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	693	smart00221	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	184	cd07835	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	190	cd05099	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	206	cd05053	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	170	cd06624	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	163	cd06643	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	190	cd05100	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	174	cd06658	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd07857	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	156	cd08219	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	180	cd07832	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd07863	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd05583	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	157	cd05616	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd08530	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd05578	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd08222	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	158	cd05605	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd05587	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	230	cd07834	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd07853	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	173	cd07841	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	163	cd06627	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	173_G	cd06632	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	183	cd05045	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	179	cd08528	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	157	cd08218	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	158	cd08223	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	157	cd06630	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd06628	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	196	cd05122	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	199	cd06608	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	272	cd06606	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	155_G	cd06626	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	158	cd08225	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	156	cd05615	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	154	cd07860	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd07861	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd06631	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	234	cd08215	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	169	cd06610	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd08529	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	206	cd07840	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	200_G	cd07829	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd06637	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	388	cd05581	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	157	cd07839	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	170	cd06619	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	157	cd08228	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	157	cd08229	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd06617	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	157	cd07836	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	154_G	cd06615	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	185	cd06609	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	227_G	cd05580	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd06629	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	156_G	cd05612	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	727	COG0515	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd07862	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd07847	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	170	cd06622	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	205	cd06623	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd07856	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	191	cd06639	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	172	cd06659	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	170_G	cd07878	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	175	cd07850	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	188_G	cd07851	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	96	smart00750	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	170	cd06647	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	170	cd06656	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	152	cd05591	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd05087	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd05058	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd05042	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	156	cd05086	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	152	cd05116	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd05060	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	151	cd05595	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	169	cd05118	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	149	cd05085	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	152	cd05041	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd05040	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165_G	cd08220	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	173	cd05044	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	150	cd05084	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	152	cd05594	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd05077	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	181	cd05037	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	385	cd00192	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	166	cd05078	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	178	cd05076	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	150	cd05571	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	152	cd05582	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	150	cd05588	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	152	cd05570	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd05620	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	150	cd05619	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd05592	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	152	cd05590	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	237	cd08217	NULL
2261	254028242	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	151	cd05593	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	310	cd06622	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	286	cd07836	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	317	cd06615	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	307	cd06609	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	354	cd05580	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	270	cd07862	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	279	cd07847	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	295	cd06619	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	1243	COG0515	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	285_G	cd07856	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	283	cd06617	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	270	cd05612	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	291	cd06635	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	302	cd07864	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	320	cd07854	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	276	cd07871	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	286	cd07870	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	271	cd07873	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	277	cd07872	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	284	cd05089	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	272	cd07844	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	299	cd07858	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	267	cd05608	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	282	cd07863	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	259	cd07860	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	268	cd07861	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	272	cd05587	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	272	cd05616	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	308	cd05615	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	284	cd05583	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	349	cd07853	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	271	cd05605	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	286	cd06654	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	282	cd07846	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	314	cd07876	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	296_G	cd07878	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	322	cd07850	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	327	cd07851	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	285	cd06659	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	303	cd05099	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	276	cd06643	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	305	cd05100	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	292	cd05584	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	291	cd07835	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	274	cd05589	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	285	cd06655	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	280	cd06611	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	307	cd06618	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	324	cd06614	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	297	cd07880	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	331	cd05057	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	287	cd06657	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	267	cd05571	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	269	cd05582	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	277	cd05588	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	278	cd05620	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	280	cd05619	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	283	cd05592	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	308	cd05570	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	286	cd05594	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	261	cd05590	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	270	cd05591	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	303	cd05595	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	285	cd05593	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	298	cd06616	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	277	cd05108	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	289	cd05088	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	285	cd05110	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	277	cd05111	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	268	cd06640	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	268	cd06641	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	268	cd06642	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	276	cd07839	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	358	cd07852	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	277	cd07837	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	273	cd06656	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	285	cd06647	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	288	cd06634	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	306	cd06607	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	283	cd06644	NULL
2261	13112048	Disease	p.Lys650Met	134934.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I	OMIM	308	cd07877	NULL
2261	120050	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	No Domain	N/A	4503711,NP_000133
2261	254028242	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	No Domain	N/A	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	4	smart00220	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	27	cd07865	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd06622	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd06629	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd07836	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd06615	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd06609	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd05580	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd07862	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd07847	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd06619	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	58	COG0515	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	25	cd07856	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd06617	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd08229	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd08228	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd05612	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd06623	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	52	cd05107	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	52	cd05105	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	40	cd06635	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	22	cd07864	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd05052	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd07854	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd07871	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd05069	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd07870	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd07873	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd05062	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd05036	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	23	cd05032	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd05061	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd07872	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd05089	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd07844	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd05067	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd05034	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd05068	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd05073	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd05070	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd05039	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd05148	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd05082	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd05083	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd05072	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd05056	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd05071	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd07858	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05608	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05577	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05572	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	11	cd00180	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd06612	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05123	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05047	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05115	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd08221	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	8	cd05579	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd05045	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd07863	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd08218	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd08223	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd06630	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd06628	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd08530	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd05578	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd08528	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd07860	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd07861	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd06631	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd08215	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd05587	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd08219	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd07832	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	22	cd05122	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd07834	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd08222	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd05616	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd05615	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	22	cd06606	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd06626	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd08225	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd05583	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd07841	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd06627	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd06632	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14_G	cd07853	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd07857	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	21	cd06608	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd05605	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	37	cd06639	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	35	cd06654	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd07846	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	13	cd08216	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd06917	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd07833	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd07831	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd07842	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd06625	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	36	cd07876	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	37	cd06658	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	30	cd07878	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	31	cd07850	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	30	cd07851	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	36	cd06659	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	27	cd05099	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd06643	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	27	cd05053	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	27	cd05100	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	23	cd06624	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	33	cd05098	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	11	cd05584	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd05074	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd06621	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd05075	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd05035	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd07835	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd05589	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	pfam07714	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	pfam00069	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd07830	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	smart00219	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd06605	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	smart00221	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd07838	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	34	cd06655	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd06611	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05094	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05093	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05064	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05063	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05048	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05090	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05091	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	24	cd06645	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05092	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	28	cd05051	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05046	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05095	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05096	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05050	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	22	cd06636	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05097	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05049	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	30	cd06618	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	35	cd06614	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	30	cd07880	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	30	cd05101	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	22	cd05103	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	22	cd05102	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	22	cd05054	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	33	cd05057	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	35	cd06657	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05571	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	11	cd05582	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05588	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	14	cd05118	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05085	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05041	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05040	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd08220	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05044	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05084	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05620	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05619	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05592	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05570	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd08217	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05594	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05590	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05116	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05060	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05077	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05037	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd00192	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05078	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd05076	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05087	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05058	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05086	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05042	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05591	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05595	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	10	cd05593	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	22	cd05109	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05065	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05033	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05079	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05081	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05066	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	22	cd05043	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd06616	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	22	cd05108	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	22	cd05088	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	22	cd05110	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	24	cd07866	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	22	cd05111	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05080	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05113	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05112	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05059	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd05114	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd06640	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd06641	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	24	cd06646	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	50	cd05104	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	52	cd05055	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	53	cd05106	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	20	cd05038	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	19	cd06642	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd06613	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd08529	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd07839	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd06610	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	23	cd05581	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	12	cd06637	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	18	cd07840	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	15	cd07829	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	22	cd07845	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	33	cd06638	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd06651	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd06652	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd08224	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	17	cd06653	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	16	cd07837	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	34	cd06656	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	34	cd06647	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	30	cd06634	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	30	cd06607	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	27	cd06644	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	32	cd07877	NULL
2261	13112048	Disease	p.Tyr373Cys	134934.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	34	cd06648	NULL
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	364	COG0515	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05612	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd07856	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd07836	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd06615	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	77	cd06609	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	84	cd06619	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd06622	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	83	cd06623	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd08228	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06617	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd07862	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd07847	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd06629	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	113	cd05580	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd08229	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	84	cd07876	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd07837	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06653	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06651	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06652	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd08224	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	81	cd06654	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	88	cd05098	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	105	cd05051	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	132	cd05046	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	86	cd05095	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	83	cd05096	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd05050	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	77	cd06636	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	83	cd05097	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd05049	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05092	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd06645	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05094	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05093	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05064	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05063	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05048	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05090	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd05091	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd07865	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05045	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd07863	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd07853	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	93	cd07834	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd07857	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05583	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05616	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	82	cd08528	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd08530	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd05578	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05587	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd08222	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd05122	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd05605	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	92	cd06608	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06631	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	82	cd08215	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	128	cd06606	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06626	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd08225	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd08218	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd08223	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd06630	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd06628	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd07841	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06627	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd06632	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd07860	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd07861	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05615	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd08219	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd07832	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	100	cd05056	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd07872	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd07870	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd07858	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd07854	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05061	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd05052	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05067	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05034	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05068	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05073	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05070	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05039	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05148	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05082	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05083	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05072	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05069	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05062	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05036	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	104	cd05032	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05089	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd07844	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd07871	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd07873	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05071	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd07864	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd07878	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	82	cd06659	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd07850	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	85	cd07851	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd06647	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd06656	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd06646	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06640	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06641	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06613	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	74	cd05038	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06642	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	90	cd06639	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd07877	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	79	cd06634	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	79	cd06607	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd06648	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd06644	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd05584	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	103	cd05104	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	105	cd05055	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	107	cd05106	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	122	cd05057	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	81	cd06657	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	75	cd05103	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	75	cd05102	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	75	cd05054	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd07866	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05109	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd05088	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05112	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05113	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05059	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05114	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05065	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	93	cd05033	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05079	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05081	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05066	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	87	cd05043	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05108	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05110	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05111	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	74	cd06616	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05080	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd08529	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd06637	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd06610	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd07839	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	90	cd07840	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd07829	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	116	cd05581	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06611	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd06655	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd07852	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd07843	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd07842	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06625	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd07846	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd07831	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd08216	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	85	cd07833	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd06917	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05593	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05595	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05590	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd05570	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd05077	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd05037	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	115	cd00192	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05078	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd05076	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd08217	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd05118	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05620	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05619	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05592	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05085	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05041	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05040	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd08220	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05044	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05084	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05087	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05058	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd05042	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05086	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05571	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd05582	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05588	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05594	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05591	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05116	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05060	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	83	cd06658	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	99	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	100	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	97	cd07830	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	218	smart00219	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	296	smart00221	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd07835	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd05589	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05074	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06621	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd05075	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	75	cd05035	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd07838	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd06605	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	92	cd06614	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	85	cd05101	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd07880	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd06618	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	199	smart00220	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	89	cd06635	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	105	cd05105	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	105	cd05107	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd06624	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06643	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	82	cd05100	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	82	cd05099	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	82	cd05053	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	79	cd06638	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd07845	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05577	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	106	cd05572	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd00180	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	74	cd06612	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd08221	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05579	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	98	cd05123	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05115	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05608	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05047	4503711,NP_000133
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd05038	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06642	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06613	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	86	cd05098	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd07866	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05110	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd05080	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05113	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05112	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05059	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05114	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	85	cd05043	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05111	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05088	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05109	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd06616	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05065	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	91	cd05033	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd05079	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05081	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05066	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05108	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	74	cd07865	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	82	cd07876	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05103	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05102	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05054	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	120	cd05057	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	79	cd06657	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	101	cd05104	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	103	cd05055	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	105	cd05106	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd06655	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06611	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	197	smart00220	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	90	cd06614	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd06618	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd07880	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	83	cd05101	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06653	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06651	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd08224	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd07837	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06652	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	77	cd06638	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd07845	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd06648	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	77	cd06634	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd07877	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd06644	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	77	cd06607	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	79	cd06654	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd07852	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd07843	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd05584	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05094	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05093	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05092	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd05064	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05063	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05048	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	103	cd05051	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	130	cd05046	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	84	cd05095	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	81	cd05096	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05050	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	75	cd06636	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	81	cd05097	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05049	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06645	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05090	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05091	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	104	cd05572	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd00180	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd06612	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	96	cd05123	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05115	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	55	cd05608	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05047	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd08221	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05579	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05577	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd07831	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd06917	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd07846	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	83	cd07833	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd07842	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06625	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd08216	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	103	cd05105	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	103	cd05107	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	87	cd06635	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06646	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06640	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06641	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05089	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05061	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd07864	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05071	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd07873	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd07870	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd07872	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd07854	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd05052	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05062	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05036	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	102	cd05032	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	98	cd05056	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd07858	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05069	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd07871	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd07844	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05067	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05034	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05068	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05073	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05070	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05039	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05148	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05082	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05083	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05072	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd05589	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd07838	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	97	pfam07714	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	96	pfam00069	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	95	cd07830	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	216	smart00219	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05074	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06621	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd05075	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05035	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd06605	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	294	smart00221	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd07835	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd05099	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd05053	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd06624	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06643	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd05100	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	81	cd06658	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd07857	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd08219	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd07832	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd07863	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05583	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05616	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd08530	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd05578	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd08222	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd05605	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd05587	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	91	cd07834	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd07853	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd07841	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06627	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd06632	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05045	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd08528	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd08218	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd08223	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd06630	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd06628	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd05122	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	90	cd06608	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	126	cd06606	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06626	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd08225	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05615	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd07860	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd07861	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06631	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd08215	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd06610	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd08529	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	88	cd07840	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd07829	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd06637	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	114	cd05581	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd07839	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	82	cd06619	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd08228	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd08229	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd06617	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd07836	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd06615	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	75	cd06609	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	111	cd05580	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd06629	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05612	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	362	COG0515	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd07862	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd07847	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd06622	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	81	cd06623	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd07856	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	88	cd06639	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd06659	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd07878	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd07850	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	83	cd07851	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd06647	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd06656	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05591	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05087	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05058	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05042	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05086	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05116	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05060	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05595	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd05118	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	55	cd05085	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	56	cd05041	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05040	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd08220	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05044	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	55	cd05084	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05594	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd05077	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd05037	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	113	cd00192	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05078	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd05076	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05571	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05582	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05588	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05570	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05620	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05619	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05592	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05590	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd08217	NULL
2261	254028242	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05593	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	663	smart00220	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	187	cd07865	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06622	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171	cd06629	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd07836	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd06615	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	189	cd06609	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	227_G	cd05580	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd07862	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd07847	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06619	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	795	COG0515	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd07856	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd06617	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd08229	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd08228	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd05612	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	214	cd06623	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	302	cd05107	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	300	cd05105	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	185	cd06635	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	178	cd07864	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd05052	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	188	cd07854	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd07871	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd05069	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd07870	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd07873	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	179	cd05062	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	182	cd05036	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	224	cd05032	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	180	cd05061	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd07872	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd05089	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd07844	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd05067	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05034	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05068	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd05073	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd05070	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd05039	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd05148	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160_G	cd05082	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155	cd05083	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd05072	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	197	cd05056	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd05071	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	170	cd07858	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155	cd05608	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd05577	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	228_G	cd05572	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	618	cd00180	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd06612	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	682	cd05123	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05047	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd05115	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd08221	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	152	cd05579	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	187	cd05045	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd07863	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd08218	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd08223	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd06630	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd06628	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd08530	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd05578	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	183	cd08528	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd07860	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd07861	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd06631	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	234_G	cd08215	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd05587	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd08219	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	181_G	cd07832	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	200	cd05122	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	234	cd07834	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd08222	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd05616	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05615	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	276	cd06606	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155_G	cd06626	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd08225	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd05583	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	177	cd07841	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd06627	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175	cd06632	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd07853	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	170	cd07857	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	203	cd06608	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159_G	cd05605	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	195	cd06639	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175	cd06654	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd07846	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd08216	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd06917	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	195	cd07833	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd07831	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	270	cd07842	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd06625	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	100	smart00750	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	183	cd07876	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	178	cd06658	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd07878	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	179	cd07850	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	191	cd07851	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd06659	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	194	cd05099	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd06643	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	210	cd05053	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	194	cd05100	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06624	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	200	cd05098	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd05584	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173	cd05074	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175_G	cd06621	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	187	cd05075	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	183	cd05035	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	185	cd07835	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd05589	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	338	pfam07714	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	287	pfam00069	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	241_G	cd07830	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	532	smart00219	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	182	cd06605	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	719	smart00221	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	190	cd07838	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06655	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd06611	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	190	cd05094	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	180	cd05093	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05064	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd05063	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	187	cd05048	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	184	cd05090	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	184	cd05091	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd06645	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	182	cd05092	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	225	cd05051	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	245	cd05046	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	201	cd05095	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	227	cd05096	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	193	cd05050	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	181	cd06636	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	191	cd05097	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	192	cd05049	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd06618	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	200	cd06614	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd07880	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	197	cd05101	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	240	cd05103	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	238	cd05102	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	289	cd05054	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	223	cd05057	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd06657	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05571	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd05582	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05588	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173	cd05118	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	153	cd05085	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd05041	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05040	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd08220	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	177	cd05044	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05084	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171	cd05620	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05619	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171	cd05592	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd05570	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	237_G	cd08217	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd05594	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd05590	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd05116	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd05060	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd05077	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	185	cd05037	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	389	cd00192	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168_G	cd05078	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	182	cd05076	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd05087	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd05058	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05086	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd05042	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd05591	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155	cd05595	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155	cd05593	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05109	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05065	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	202	cd05033	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	170	cd05079	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05081	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05066	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	205	cd05043	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173	cd06616	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05108	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	181	cd05088	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05110	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	191	cd07866	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05111	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd05080	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05113	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd05112	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd05059	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd05114	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd06640	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd06641	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd06646	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	284	cd05104	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	299	cd05055	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	282	cd05106	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	193	cd05038	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd06642	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd06613	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd08529	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160_G	cd07839	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173	cd06610	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	392	cd05581	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171	cd06637	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	210	cd07840	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	200_G	cd07829	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171_G	cd07843	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd07852	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	181	cd07845	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	184	cd06638	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd06651	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	187	cd06652	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd08224	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164_G	cd06653	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	177	cd07837	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06656	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06647	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175	cd06634	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174_G	cd06607	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd06644	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd07877	NULL
2261	13112048	Disease	p.Asn540Thr	134934.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd06648	NULL
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	362	COG0515	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05612	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd07856	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd07836	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd06615	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	75	cd06609	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	82	cd06619	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd06622	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	81	cd06623	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd08228	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd06617	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd07862	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd07847	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd06629	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	111	cd05580	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd08229	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	82	cd07876	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd07837	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06653	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06651	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06652	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd08224	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	79	cd06654	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	86	cd05098	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	103	cd05051	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	130	cd05046	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	84	cd05095	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	81	cd05096	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05050	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	75	cd06636	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	81	cd05097	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05049	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05092	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06645	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05094	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05093	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd05064	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05063	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05048	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05090	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05091	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	74	cd07865	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05045	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd07863	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd07853	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	91	cd07834	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd07857	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05583	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05616	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd08528	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd08530	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd05578	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd05587	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd08222	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd05122	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd05605	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	90	cd06608	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06631	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd08215	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	126	cd06606	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06626	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd08225	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd08218	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd08223	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd06630	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd06628	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd07841	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06627	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd06632	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd07860	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd07861	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05615	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd08219	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd07832	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	98	cd05056	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd07872	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd07870	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd07858	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd07854	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05061	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd05052	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05067	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05034	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05068	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05073	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05070	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05039	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05148	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05082	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05083	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05072	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05069	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05062	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05036	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	102	cd05032	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05089	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd07844	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd07871	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd07873	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05071	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd07864	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd07878	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd06659	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd07850	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	83	cd07851	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd06647	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd06656	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06646	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06640	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06641	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06613	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd05038	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06642	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	88	cd06639	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd07877	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	77	cd06634	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	77	cd06607	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd06648	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd06644	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd05584	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	101	cd05104	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	103	cd05055	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	105	cd05106	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	120	cd05057	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	79	cd06657	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05103	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05102	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05054	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd07866	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05109	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05088	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05112	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05113	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05059	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05114	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05065	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	91	cd05033	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd05079	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05081	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05066	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	85	cd05043	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05108	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05110	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05111	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd06616	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd05080	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd08529	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd06637	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd06610	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd07839	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	88	cd07840	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd07829	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	114	cd05581	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06611	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd06655	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd07852	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd07843	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd07842	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06625	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd07846	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd07831	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd08216	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	83	cd07833	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd06917	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05593	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05595	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05590	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05570	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd05077	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd05037	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	113	cd00192	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05078	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd05076	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd08217	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd05118	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05620	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05619	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05592	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	55	cd05085	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	56	cd05041	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05040	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd08220	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05044	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	55	cd05084	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05087	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05058	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05042	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05086	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05571	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05582	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05588	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05594	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05591	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05116	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05060	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	81	cd06658	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	97	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	96	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	95	cd07830	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	216	smart00219	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	294	smart00221	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd07835	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd05589	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05074	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06621	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd05075	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05035	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd07838	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd06605	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	90	cd06614	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	83	cd05101	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd07880	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd06618	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	197	smart00220	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	87	cd06635	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	103	cd05105	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	103	cd05107	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd06624	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06643	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd05100	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd05099	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd05053	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	77	cd06638	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd07845	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05577	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	104	cd05572	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd00180	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd06612	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd08221	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05579	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	96	cd05123	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05115	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	55	cd05608	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05047	4503711,NP_000133
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05038	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd06642	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd06613	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	84	cd05098	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd07866	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05110	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd05080	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05113	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05112	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05059	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05114	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	83	cd05043	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05111	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd05088	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69_G	cd05109	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd06616	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05065	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	89	cd05033	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd05079	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05081	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05066	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05108	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd07865	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd07876	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05103	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05102	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05054	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	118	cd05057	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	77	cd06657	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	99	cd05104	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	101	cd05055	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	103	cd05106	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd06655	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06611	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	190	smart00220	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	88	cd06614	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	74	cd06618	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	74	cd07880	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	81	cd05101	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06653	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06651	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd08224	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd07837	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06652	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	75	cd06638	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd07845	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd06648	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	75	cd06634	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd07877	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd06644	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	75	cd06607	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	77	cd06654	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd07852	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd07843	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd05584	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05094	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05093	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05092	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd05064	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05063	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05048	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	101	cd05051	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	128	cd05046	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	82	cd05095	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	79	cd05096	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd05050	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd06636	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	79	cd05097	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd05049	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06645	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05090	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd05091	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	102	cd05572	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd00180	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd06612	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	94	cd05123	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	55	cd05115	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	53	cd05608	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	56	cd05047	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd08221	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	55	cd05579	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	56	cd05577	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd07831	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06917	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd07846	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	81	cd07833	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd07842	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06625	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd08216	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	101	cd05105	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	101	cd05107	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	85	cd06635	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06646	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd06640	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd06641	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05089	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05061	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd07864	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05071	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd07873	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd07870	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd07872	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd07854	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd05052	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05062	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05036	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	100_G	cd05032	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	96	cd05056	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd07858	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05069	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd07871	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd07844	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05067	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05034	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05068	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05073	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05070	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05039	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05148	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05082	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05083	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05072	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd05589	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd07838	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	95	pfam07714	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	92	pfam00069	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	93	cd07830	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	214	smart00219	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05074	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd06621	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05075	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05035	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd06605	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	291	smart00221	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd07835	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd05099	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd05053	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd06624	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd06643	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd05100	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	79	cd06658	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd07857	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd08219	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd07832	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd07863	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05583	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05616	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd08530	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05578	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd08222	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05605	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd05587	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	89	cd07834	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd07853	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	74	cd07841	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06627	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd06632	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05045	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd08528	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd08218	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd08223	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd06630	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06628	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd05122	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	88	cd06608	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	124	cd06606	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd06626	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd08225	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05615	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd07860	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd07861	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd06631	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd08215	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd06610	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd08529	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	86	cd07840	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd07829	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd06637	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	112	cd05581	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd07839	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd06619	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd08228	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd08229	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd06617	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd07836	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	55	cd06615	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd06609	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	109	cd05580	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06629	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05612	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	302	COG0515	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd07862	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd07847	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd06622	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	79	cd06623	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd07856	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	86	cd06639	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd06659	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	74	cd07878	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd07850	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	81	cd07851	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd06647	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd06656	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	56	cd05591	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	55	cd05087	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05058	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05042	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	55	cd05086	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	56	cd05116	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05060	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	55	cd05595	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd05118	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	53	cd05085	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	54	cd05041	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05040	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd08220	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05044	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	53	cd05084	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	55	cd05594	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd05077	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd05037	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	111	cd00192	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05078	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd05076	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	55	cd05571	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05582	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	56	cd05588	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05570	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	56	cd05620	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	56	cd05619	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	56	cd05592	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	56	cd05590	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd08217	NULL
2261	254028242	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	55	cd05593	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	661	smart00220	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	185	cd07865	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd06622	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd06629	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd07836	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155	cd06615	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	187	cd06609	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	227_G	cd05580	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd07862	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd07847	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd06619	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	793	COG0515	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd07856	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd06617	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd08229	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd08228	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156_G	cd05612	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	212	cd06623	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	300	cd05107	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	298	cd05105	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	183	cd06635	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd07864	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd05052	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	184	cd07854	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd07871	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05069	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd07870	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd07873	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	177	cd05062	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	180	cd05036	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	222	cd05032	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	178	cd05061	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd07872	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd05089	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd07844	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05067	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05034	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd05068	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd05073	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05070	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05039	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd05148	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05082	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	153	cd05083	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05072	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	195	cd05056	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05071	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd07858	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	153	cd05608	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155	cd05577	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	227	cd05572	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	616	cd00180	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06612	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	674	cd05123	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05047	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05115	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd08221	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	150	cd05579	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	185	cd05045	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd07863	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd08218	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd08223	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd06630	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd06628	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd08530	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd05578	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	181	cd08528	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd07860	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159_G	cd07861	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd06631	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	234_G	cd08215	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd05587	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd08219	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	181_G	cd07832	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	198	cd05122	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	232	cd07834	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd08222	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd05616	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd05615	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	274	cd06606	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155_G	cd06626	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd08225	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd05583	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175	cd07841	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd06627	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173_G	cd06632	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd07853	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd07857	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	201	cd06608	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159_G	cd05605	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	193	cd06639	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173	cd06654	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd07846	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd08216	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	170	cd06917	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	193	cd07833	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155_G	cd07831	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	268	cd07842	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd06625	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	98	smart00750	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	181	cd07876	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd06658	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	170_G	cd07878	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	177	cd07850	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	189	cd07851	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06659	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	192	cd05099	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd06643	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	208	cd05053	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	192	cd05100	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd06624	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	198	cd05098	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd05584	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171	cd05074	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175_G	cd06621	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	185	cd05075	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	181	cd05035	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	184_G	cd07835	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd05589	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	336	pfam07714	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	285	pfam00069	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	241_G	cd07830	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	528	smart00219	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175	cd06605	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	695	smart00221	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	179	cd07838	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd06655	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd06611	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	181	cd05094	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	178	cd05093	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd05064	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd05063	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	185	cd05048	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	182	cd05090	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	182	cd05091	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd06645	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	180	cd05092	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	223	cd05051	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	243	cd05046	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	199	cd05095	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	225	cd05096	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	191	cd05050	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	179	cd06636	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	189	cd05097	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	190	cd05049	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06618	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	199_G	cd06614	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	170_G	cd07880	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	195	cd05101	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	238	cd05103	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	236	cd05102	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	287	cd05054	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	221	cd05057	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06657	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	152	cd05571	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05582	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	152	cd05588	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171	cd05118	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	151	cd05085	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05041	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05040	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd08220	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175	cd05044	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	152	cd05084	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05620	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	152	cd05619	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05592	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05570	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	237_G	cd08217	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05594	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05590	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05116	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd05060	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd05077	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	183	cd05037	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	387	cd00192	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd05078	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	180	cd05076	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd05087	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd05058	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd05086	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd05042	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05591	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	153	cd05595	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	153	cd05593	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167_G	cd05109	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05065	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	200	cd05033	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd05079	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05081	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd05066	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	203	cd05043	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171	cd06616	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05108	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	179	cd05088	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05110	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	189	cd07866	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05111	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd05080	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd05113	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd05112	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd05059	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd05114	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd06640	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd06641	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd06646	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	282	cd05104	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	297	cd05055	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	280	cd05106	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	191	cd05038	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd06642	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd06613	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd08529	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd07839	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171	cd06610	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	390	cd05581	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd06637	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	208	cd07840	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	200_G	cd07829	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171_G	cd07843	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd07852	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	179	cd07845	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	182	cd06638	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd06651	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	185_G	cd06652	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd08224	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd06653	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175	cd07837	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd06656	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd06647	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173	cd06634	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173	cd06607	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd06644	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172_G	cd07877	NULL
2261	13112048	Disease	p.Ile538Val	134934.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06648	NULL
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	793	COG0515	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156_G	cd05612	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd07856	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd07836	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155	cd06615	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	187	cd06609	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd06619	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd06622	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	212	cd06623	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd08228	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd06617	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd07862	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd07847	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd06629	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	227_G	cd05580	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd08229	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	181	cd07876	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175	cd07837	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd06653	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd06651	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	185_G	cd06652	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd08224	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173	cd06654	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	198	cd05098	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	223	cd05051	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	243	cd05046	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	199	cd05095	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	225	cd05096	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	191	cd05050	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	179	cd06636	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	189	cd05097	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	190	cd05049	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	180	cd05092	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd06645	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	181	cd05094	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	178	cd05093	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd05064	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd05063	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	185	cd05048	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	182	cd05090	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	182	cd05091	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	98	smart00750	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	185	cd07865	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	185	cd05045	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd07863	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd07853	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	232	cd07834	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd07857	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd05583	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd05616	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	181	cd08528	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd08530	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd05578	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd05587	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd08222	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	198	cd05122	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159_G	cd05605	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	201	cd06608	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd06631	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	234_G	cd08215	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	274	cd06606	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155_G	cd06626	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd08225	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd08218	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd08223	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd06630	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd06628	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175	cd07841	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd06627	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173_G	cd06632	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd07860	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159_G	cd07861	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd05615	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd08219	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	181_G	cd07832	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	195	cd05056	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd07872	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd07870	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd07858	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	184	cd07854	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	178	cd05061	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd05052	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05067	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05034	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd05068	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd05073	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05070	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05039	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd05148	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05082	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	153	cd05083	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05072	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05069	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	177	cd05062	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	180	cd05036	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	222	cd05032	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd05089	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd07844	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd07871	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd07873	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05071	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd07864	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	170_G	cd07878	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06659	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	177	cd07850	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	189	cd07851	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd06647	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd06656	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd06646	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd06640	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd06641	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd06613	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	191	cd05038	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd06642	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	193	cd06639	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172_G	cd07877	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173	cd06634	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173	cd06607	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06648	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd06644	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd05584	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	282	cd05104	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	297	cd05055	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	280	cd05106	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	221	cd05057	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06657	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	238	cd05103	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	236	cd05102	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	287	cd05054	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	189	cd07866	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167_G	cd05109	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	179	cd05088	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd05112	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd05113	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd05059	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd05114	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05065	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	200	cd05033	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd05079	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05081	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd05066	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	203	cd05043	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05108	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05110	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05111	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171	cd06616	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd05080	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd08529	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd06637	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171	cd06610	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd07839	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	208	cd07840	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	200_G	cd07829	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	390	cd05581	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd06611	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd06655	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd07852	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171_G	cd07843	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	268	cd07842	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd06625	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd07846	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155_G	cd07831	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd08216	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	193	cd07833	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	170	cd06917	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	153	cd05593	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	153	cd05595	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05590	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05570	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd05077	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	183	cd05037	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	387	cd00192	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd05078	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	180	cd05076	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	237_G	cd08217	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171	cd05118	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05620	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	152	cd05619	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05592	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	151	cd05085	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05041	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05040	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd08220	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175	cd05044	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	152	cd05084	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd05087	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd05058	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd05042	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd05086	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	152	cd05571	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05582	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	152	cd05588	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05594	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05591	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05116	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd05060	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd06658	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	336	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	285	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	241_G	cd07830	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	528	smart00219	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	695	smart00221	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	184_G	cd07835	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd05589	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171	cd05074	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175_G	cd06621	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	185	cd05075	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	181	cd05035	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	179	cd07838	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175	cd06605	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	199_G	cd06614	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	195	cd05101	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	170_G	cd07880	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06618	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	661	smart00220	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	183	cd06635	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	298	cd05105	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	300	cd05107	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd06624	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd06643	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	192	cd05100	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	192	cd05099	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	208	cd05053	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	182	cd06638	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	179	cd07845	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155	cd05577	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	227	cd05572	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	616	cd00180	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06612	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd08221	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	150	cd05579	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	674	cd05123	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05115	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	153	cd05608	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05047	4503711,NP_000133
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	189	cd05038	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd06642	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd06613	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	196	cd05098	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	187	cd07866	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd05110	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd05080	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd05113	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155	cd05112	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd05059	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155	cd05114	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	201	cd05043	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd05111	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	177	cd05088	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05109	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd06616	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd05065	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	198	cd05033	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd05079	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd05081	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd05066	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd05108	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	180	cd07865	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	179	cd07876	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	236	cd05103	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	234	cd05102	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	285	cd05054	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	219	cd05057	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd06657	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	280	cd05104	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	295	cd05055	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	278	cd05106	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	170	cd06655	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160_G	cd06611	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	657	smart00220	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	199_G	cd06614	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172_G	cd06618	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	170_G	cd07880	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	193	cd05101	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd06653	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd06651	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd08224	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173	cd07837	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	185_G	cd06652	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	180	cd06638	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	177	cd07845	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd06648	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171	cd06634	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172_G	cd07877	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165_G	cd06644	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171	cd06607	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171	cd06654	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd07852	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171_G	cd07843	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05584	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	179	cd05094	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd05093	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	178	cd05092	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd05064	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd05063	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	183	cd05048	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	221	cd05051	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	242	cd05046	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	197	cd05095	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	223	cd05096	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	189	cd05050	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	177	cd06636	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	187	cd05097	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	188	cd05049	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd06645	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	180	cd05090	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	180	cd05091	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	225	cd05572	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	456	cd00180	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd06612	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	672	cd05123	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	152	cd05115	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	151	cd05608	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd05047	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd08221	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	148	cd05579	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	153	cd05577	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155_G	cd07831	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd06917	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd07846	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	183	cd07833	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	266	cd07842	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd06625	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd08216	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	296	cd05105	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	298	cd05107	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	181	cd06635	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd06646	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd06640	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd06641	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd05089	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd05061	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd07864	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd05071	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd07873	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd07870	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd07872	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	182	cd07854	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd05052	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175	cd05062	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	178	cd05036	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	220	cd05032	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	193	cd05056	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd07858	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd05069	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd07871	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd07844	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd05067	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd05034	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd05068	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd05073	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd05070	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159_G	cd05039	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05148	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd05082	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	151_G	cd05083	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd05072	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155	cd05589	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	177	cd07838	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	334	pfam07714	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	283	pfam00069	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	241	cd07830	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	526	smart00219	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05074	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175	cd06621	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	183	cd05075	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	179	cd05035	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173	cd06605	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	693	smart00221	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	184	cd07835	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	190	cd05099	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	206	cd05053	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	170	cd06624	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd06643	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	190	cd05100	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06658	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd07857	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd08219	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	180	cd07832	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd07863	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd05583	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd05616	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd08530	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd05578	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd08222	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd05605	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd05587	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	230	cd07834	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd07853	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173	cd07841	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd06627	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173_G	cd06632	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	183	cd05045	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	179	cd08528	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd08218	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd08223	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd06630	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd06628	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	196	cd05122	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	199	cd06608	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	272	cd06606	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155_G	cd06626	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd08225	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd05615	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd07860	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd07861	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd06631	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	234	cd08215	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd06610	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd08529	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	206	cd07840	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	200_G	cd07829	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd06637	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	388	cd05581	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd07839	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	170	cd06619	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd08228	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd08229	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd06617	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd07836	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154_G	cd06615	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	185	cd06609	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	227_G	cd05580	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd06629	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156_G	cd05612	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	727	COG0515	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd07862	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd07847	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	170	cd06622	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	205	cd06623	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd07856	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	191	cd06639	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd06659	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	170_G	cd07878	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175	cd07850	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	188_G	cd07851	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	96	smart00750	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	170	cd06647	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	170	cd06656	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	152	cd05591	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd05087	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd05058	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd05042	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd05086	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	152	cd05116	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd05060	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	151	cd05595	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05118	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	149	cd05085	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	152	cd05041	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd05040	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165_G	cd08220	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173	cd05044	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	150	cd05084	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	152	cd05594	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd05077	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	181	cd05037	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	385	cd00192	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd05078	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	178	cd05076	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	150	cd05571	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	152	cd05582	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	150	cd05588	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	152	cd05570	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05620	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	150	cd05619	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05592	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	152	cd05590	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	237	cd08217	NULL
2261	254028242	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	151	cd05593	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	310	cd06622	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	286	cd07836	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	317	cd06615	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	307	cd06609	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	354	cd05580	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	270	cd07862	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	279	cd07847	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	295	cd06619	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	1243	COG0515	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	285_G	cd07856	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	283	cd06617	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	270	cd05612	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	291	cd06635	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	302	cd07864	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	320	cd07854	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	276	cd07871	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	286	cd07870	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	271	cd07873	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	277	cd07872	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	284	cd05089	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	272	cd07844	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	299	cd07858	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	267	cd05608	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	282	cd07863	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	259	cd07860	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	268	cd07861	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	272	cd05587	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	272	cd05616	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	308	cd05615	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	284	cd05583	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	349	cd07853	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	271	cd05605	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	286	cd06654	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	282	cd07846	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	314	cd07876	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	296_G	cd07878	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	322	cd07850	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	327	cd07851	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	285	cd06659	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	303	cd05099	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	276	cd06643	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	305	cd05100	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	292	cd05584	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	291	cd07835	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	274	cd05589	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	285	cd06655	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	280	cd06611	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	307	cd06618	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	324	cd06614	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	297	cd07880	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	331	cd05057	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	287	cd06657	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	267	cd05571	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	269	cd05582	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	277	cd05588	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	278	cd05620	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	280	cd05619	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	283	cd05592	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	308	cd05570	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	286	cd05594	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	261	cd05590	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	270	cd05591	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	303	cd05595	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	285	cd05593	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	298	cd06616	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	277	cd05108	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	289	cd05088	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	285	cd05110	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	277	cd05111	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	268	cd06640	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	268	cd06641	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	268	cd06642	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	276	cd07839	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	358	cd07852	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	277	cd07837	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	273	cd06656	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	285	cd06647	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	288	cd06634	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	306	cd06607	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	283	cd06644	NULL
2261	13112048	Disease	p.Lys650Gln	134934.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	308	cd07877	NULL
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	364	COG0515	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05612	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd07856	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd07836	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd06615	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	77	cd06609	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	84	cd06619	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd06622	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	83	cd06623	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd08228	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06617	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd07862	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd07847	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd06629	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	113	cd05580	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd08229	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	84	cd07876	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd07837	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06653	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06651	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06652	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd08224	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	81	cd06654	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	88	cd05098	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	105	cd05051	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	132	cd05046	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	86	cd05095	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	83	cd05096	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd05050	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	77	cd06636	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	83	cd05097	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd05049	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05092	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd06645	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05094	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05093	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05064	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05063	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05048	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05090	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd05091	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd07865	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05045	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd07863	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd07853	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	93	cd07834	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd07857	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05583	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05616	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	82	cd08528	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd08530	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd05578	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05587	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd08222	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd05122	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd05605	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	92	cd06608	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06631	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	82	cd08215	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	128	cd06606	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06626	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd08225	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd08218	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd08223	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd06630	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd06628	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd07841	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06627	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd06632	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd07860	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd07861	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05615	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd08219	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd07832	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	100	cd05056	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd07872	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd07870	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd07858	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd07854	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05061	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd05052	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05067	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05034	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05068	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05073	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05070	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05039	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05148	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05082	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05083	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05072	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05069	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05062	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05036	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	104	cd05032	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05089	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd07844	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd07871	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd07873	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05071	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd07864	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd07878	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	82	cd06659	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd07850	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	85	cd07851	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd06647	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd06656	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd06646	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06640	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06641	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06613	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	74	cd05038	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06642	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	90	cd06639	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd07877	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	79	cd06634	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	79	cd06607	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd06648	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd06644	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd05584	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	103	cd05104	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	105	cd05055	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	107	cd05106	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	122	cd05057	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	81	cd06657	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	75	cd05103	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	75	cd05102	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	75	cd05054	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd07866	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05109	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd05088	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05112	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05113	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05059	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05114	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05065	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	93	cd05033	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05079	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05081	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05066	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	87	cd05043	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05108	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05110	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05111	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	74	cd06616	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05080	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd08529	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd06637	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd06610	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd07839	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	90	cd07840	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd07829	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	116	cd05581	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06611	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd06655	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd07852	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd07843	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd07842	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06625	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd07846	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd07831	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd08216	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	85	cd07833	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd06917	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05593	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05595	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05590	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd05570	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd05077	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd05037	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	115	cd00192	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05078	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd05076	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd08217	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd05118	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05620	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05619	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05592	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05085	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05041	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05040	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd08220	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05044	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05084	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05087	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05058	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd05042	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05086	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05571	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd05582	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05588	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05594	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05591	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05116	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05060	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	83	cd06658	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	99	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	100	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	97	cd07830	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	218	smart00219	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	296	smart00221	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd07835	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd05589	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05074	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06621	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd05075	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	75	cd05035	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd07838	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd06605	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	92	cd06614	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	85	cd05101	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd07880	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd06618	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	199	smart00220	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	89	cd06635	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	105	cd05105	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	105	cd05107	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd06624	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06643	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	82	cd05100	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	82	cd05099	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	82	cd05053	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	79	cd06638	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd07845	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05577	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	106	cd05572	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd00180	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	74	cd06612	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd08221	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05579	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	98	cd05123	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	59	cd05115	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05608	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05047	4503711,NP_000133
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd05038	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06642	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06613	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	86	cd05098	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd07866	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05110	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd05080	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05113	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05112	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05059	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05114	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	85	cd05043	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05111	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05088	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05109	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd06616	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05065	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	91	cd05033	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd05079	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05081	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05066	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05108	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	74	cd07865	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	82	cd07876	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05103	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05102	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05054	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	120	cd05057	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	79	cd06657	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	101	cd05104	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	103	cd05055	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	105	cd05106	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd06655	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06611	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	197	smart00220	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	90	cd06614	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd06618	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd07880	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	83	cd05101	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06653	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06651	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd08224	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd07837	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06652	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	77	cd06638	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd07845	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd06648	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	77	cd06634	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd07877	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd06644	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	77	cd06607	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	79	cd06654	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd07852	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd07843	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd05584	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05094	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05093	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05092	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd05064	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05063	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05048	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	103	cd05051	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	130	cd05046	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	84	cd05095	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	81	cd05096	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05050	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	75	cd06636	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	81	cd05097	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05049	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06645	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd05090	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd05091	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	104	cd05572	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd00180	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	72	cd06612	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	96	cd05123	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05115	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	55	cd05608	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05047	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd08221	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05579	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05577	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd07831	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd06917	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd07846	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	83	cd07833	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd07842	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06625	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd08216	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	103	cd05105	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	103	cd05107	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	87	cd06635	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd06646	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06640	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06641	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05089	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05061	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd07864	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05071	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd07873	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd07870	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd07872	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd07854	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd05052	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05062	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd05036	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	102	cd05032	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	98	cd05056	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd07858	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05069	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd07871	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd07844	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05067	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05034	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05068	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05073	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05070	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05039	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05148	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05082	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05083	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05072	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd05589	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	69	cd07838	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	97	pfam07714	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	96	pfam00069	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	95	cd07830	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	216	smart00219	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05074	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06621	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd05075	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	73	cd05035	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd06605	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	294	smart00221	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd07835	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd05099	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd05053	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd06624	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06643	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd05100	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	81	cd06658	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd07857	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd08219	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd07832	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd07863	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	67	cd05583	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05616	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd08530	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd05578	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd08222	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd05605	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	68	cd05587	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	91	cd07834	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd07853	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd07841	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd06627	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd06632	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05045	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd08528	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd08218	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd08223	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd06630	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd06628	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd05122	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	90	cd06608	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	126	cd06606	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06626	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd08225	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05615	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd07860	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd07861	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd06631	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd08215	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd06610	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd08529	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	88	cd07840	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd07829	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd06637	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	114	cd05581	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd07839	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	82	cd06619	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd08228	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd08229	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd06617	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd07836	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd06615	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	75	cd06609	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	111	cd05580	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	70	cd06629	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05612	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	362	COG0515	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd07862	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	cd07847	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd06622	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	81	cd06623	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	71	cd07856	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	88	cd06639	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	80	cd06659	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	76	cd07878	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd07850	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	83	cd07851	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd06647	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd06656	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05591	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05087	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	65	cd05058	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05042	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05086	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05116	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd05060	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05595	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	64	cd05118	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	55	cd05085	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	56	cd05041	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05040	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	63	cd08220	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05044	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	55	cd05084	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05594	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	66	cd05077	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd05037	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	113	cd00192	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd05078	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	78	cd05076	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05571	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05582	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05588	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	60	cd05570	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05620	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05619	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05592	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	58	cd05590	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	61	cd08217	NULL
2261	254028242	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	57	cd05593	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	663	smart00220	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	187	cd07865	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06622	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171	cd06629	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd07836	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd06615	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	189	cd06609	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	227_G	cd05580	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd07862	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd07847	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06619	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	795	COG0515	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd07856	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd06617	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd08229	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd08228	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd05612	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	214	cd06623	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	302	cd05107	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	300	cd05105	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	185	cd06635	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	178	cd07864	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd05052	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	188	cd07854	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd07871	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd05069	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd07870	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd07873	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	179	cd05062	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	182	cd05036	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	224	cd05032	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	180	cd05061	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd07872	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd05089	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd07844	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd05067	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05034	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05068	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd05073	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd05070	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd05039	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd05148	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160_G	cd05082	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155	cd05083	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd05072	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	197	cd05056	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd05071	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	170	cd07858	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155	cd05608	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd05577	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	228_G	cd05572	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	618	cd00180	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd06612	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	682	cd05123	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05047	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd05115	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd08221	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	152	cd05579	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	187	cd05045	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd07863	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd08218	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd08223	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd06630	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd06628	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd08530	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd05578	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	183	cd08528	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	158	cd07860	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd07861	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd06631	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	234_G	cd08215	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd05587	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd08219	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	181_G	cd07832	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	200	cd05122	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	234	cd07834	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd08222	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd05616	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05615	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	276	cd06606	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155_G	cd06626	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd08225	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd05583	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	177	cd07841	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd06627	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175	cd06632	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd07853	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	170	cd07857	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	203	cd06608	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159_G	cd05605	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	195	cd06639	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175	cd06654	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd07846	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd08216	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd06917	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	195	cd07833	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	157	cd07831	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	270	cd07842	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd06625	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	100	smart00750	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	183	cd07876	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	178	cd06658	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd07878	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	179	cd07850	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	191	cd07851	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd06659	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	194	cd05099	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd06643	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	210	cd05053	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	194	cd05100	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06624	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	200	cd05098	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd05584	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173	cd05074	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175_G	cd06621	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	187	cd05075	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	183	cd05035	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	185	cd07835	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd05589	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	338	pfam07714	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	287	pfam00069	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	241_G	cd07830	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	532	smart00219	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	182	cd06605	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	719	smart00221	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	190	cd07838	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06655	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd06611	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	190	cd05094	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	180	cd05093	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05064	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd05063	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	187	cd05048	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	184	cd05090	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	184	cd05091	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd06645	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	182	cd05092	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	225	cd05051	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	245	cd05046	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	201	cd05095	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	227	cd05096	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	193	cd05050	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	181	cd06636	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	191	cd05097	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	192	cd05049	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd06618	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	200	cd06614	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	172	cd07880	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	197	cd05101	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	240	cd05103	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	238	cd05102	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	289	cd05054	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	223	cd05057	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd06657	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05571	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd05582	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05588	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173	cd05118	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	153	cd05085	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd05041	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05040	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd08220	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	177	cd05044	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05084	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171	cd05620	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	154	cd05619	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171	cd05592	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd05570	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	237_G	cd08217	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd05594	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd05590	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd05116	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd05060	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd05077	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	185	cd05037	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	389	cd00192	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168_G	cd05078	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	182	cd05076	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd05087	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	165	cd05058	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05086	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164	cd05042	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	156	cd05591	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155	cd05595	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	155	cd05593	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05109	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05065	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	202	cd05033	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	170	cd05079	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05081	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	167	cd05066	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	205	cd05043	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173	cd06616	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05108	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	181	cd05088	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05110	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	191	cd07866	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd05111	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	168	cd05080	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160	cd05113	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd05112	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd05059	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	159	cd05114	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd06640	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd06641	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd06646	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	284	cd05104	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	299	cd05055	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	282	cd05106	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	193	cd05038	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	161	cd06642	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd06613	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	166	cd08529	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	160_G	cd07839	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	173	cd06610	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	392	cd05581	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171	cd06637	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	210	cd07840	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	200_G	cd07829	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	171_G	cd07843	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd07852	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	181	cd07845	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	184	cd06638	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	163	cd06651	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	187	cd06652	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	162	cd08224	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	164_G	cd06653	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	177	cd07837	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06656	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd06647	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	175	cd06634	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174_G	cd06607	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	169	cd06644	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	174	cd07877	NULL
2261	13112048	Disease	p.Asn540Ser	134934.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	176	cd06648	NULL
2261	120050	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	No Domain	N/A	4503711,NP_000133
2261	254028242	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	No Domain	N/A	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	12	smart00220	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	31_G	cd07865	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd06622	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	29	cd06629	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18_G	cd07836	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21_G	cd06615	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21_G	cd06609	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05580	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	20_G	cd07862	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	20_G	cd07847	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd06619	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	65	COG0515	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	29_G	cd07856	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17_G	cd06617	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd08229	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd08228	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	20_G	cd05612	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	25_G	cd06623	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	59	cd05107	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	59	cd05105	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	47	cd06635	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	29	cd07864	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	28	cd05052	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24_G	cd07854	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	27	cd07871	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	28	cd05069	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23_G	cd07870	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	28	cd07873	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	28	cd05062	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	28	cd05036	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	30	cd05032	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	28	cd05061	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	28	cd07872	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22_G	cd05089	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	27	cd07844	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	28	cd05067	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	28	cd05034	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	25_G	cd05068	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	26_G	cd05073	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	28	cd05070	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24_G	cd05039	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	25_G	cd05148	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	28	cd05082	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	28	cd05083	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	28	cd05072	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	28	cd05056	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	28	cd05071	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	28	cd07858	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	15	cd05608	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05577	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	15	cd05572	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd00180	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd06612	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	15	cd05123	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	15_G	cd05047	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	13_G	cd05115	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	20_G	cd08221	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	15	cd05579	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05045	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd07863	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd08218	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19_G	cd08223	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd06630	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd06628	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd08530	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17_G	cd05578	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd08528	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19_G	cd07860	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19_G	cd07861	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21	cd06631	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd08215	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05587	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd08219	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19_G	cd07832	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	26_G	cd05122	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21_G	cd07834	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19_G	cd08222	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05616	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05615	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	26_G	cd06606	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21	cd06626	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	20_G	cd08225	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05583	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21_G	cd07841	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd06627	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd06632	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18_G	cd07853	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd07857	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	25_G	cd06608	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05605	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	41	cd06639	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	42	cd06654	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	20_G	cd07846	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19_G	cd08216	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd06917	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	20_G	cd07833	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21	cd07831	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd07842	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd06625	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	40_G	cd07876	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	44	cd06658	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	37	cd07878	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	38	cd07850	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	37	cd07851	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	41_G	cd06659	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	34	cd05099	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	27	cd06643	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	34	cd05053	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	34	cd05100	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	27_G	cd06624	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	40	cd05098	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd05584	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	20	cd05074	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	20_G	cd06621	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19	cd05075	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21	cd05035	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19_G	cd07835	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21	cd05589	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	25	pfam07714	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	pfam00069	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21	cd07830	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	smart00219	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd06605	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	21	smart00221	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18_G	cd07838	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	41	cd06655	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24_G	cd06611	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	27	cd05094	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	27	cd05093	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23_G	cd05064	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23_G	cd05063	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	27	cd05048	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	27	cd05090	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	27	cd05091	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	31	cd06645	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	27	cd05092	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	38	cd05051	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	27	cd05046	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	27	cd05095	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	26	cd05096	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	27	cd05050	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	29	cd06636	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	27	cd05097	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	28	cd05049	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	37	cd06618	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	42	cd06614	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	34_G	cd07880	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	37	cd05101	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	29	cd05103	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	29	cd05102	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	29	cd05054	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	40	cd05057	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	42	cd06657	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05571	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18	cd05582	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05588	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	18_G	cd05118	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	13_G	cd05085	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	16_G	cd05041	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	16_G	cd05040	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19_G	cd08220	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05044	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	16_G	cd05084	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05620	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05619	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05592	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05570	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19_G	cd08217	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05594	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05590	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	13_G	cd05116	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	13_G	cd05060	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05077	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05037	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd00192	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05078	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22	cd05076	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05087	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05058	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	16	cd05086	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05042	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05591	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05595	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	17	cd05593	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	27	cd05109	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22_G	cd05065	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	46	cd05033	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05079	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05081	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22_G	cd05066	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	29	cd05043	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	26	cd06616	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	27	cd05108	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	27_G	cd05088	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	27	cd05110	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	31	cd07866	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	27	cd05111	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd05080	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	26	cd05113	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	26	cd05112	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	26	cd05059	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23_G	cd05114	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22_G	cd06640	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22_G	cd06641	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	31	cd06646	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	57	cd05104	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	59	cd05055	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	60	cd05106	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	29	cd05038	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	22_G	cd06642	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	25	cd06613	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	20_G	cd08529	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19_G	cd07839	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd06610	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	30	cd05581	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19	cd06637	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	25	cd07840	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	19_G	cd07829	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	26_G	cd07845	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	37_G	cd06638	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd06651	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd06652	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd08224	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	24	cd06653	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	23	cd07837	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	41	cd06656	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	41	cd06647	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	37	cd06634	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	37	cd06607	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	31_G	cd06644	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	36_G	cd07877	NULL
2261	13112048	Disease	p.Gly380Arg	134934.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA	OMIM	41	cd06648	NULL
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	203	COG0515	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd05612	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	47	cd07856	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd07836	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd06615	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	50	cd06609	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	58	cd06619	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd06622	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	cd06623	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	42	cd08228	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd06617	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38	cd07862	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd07847	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	cd06629	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	84	cd05580	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	42	cd08229	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	57	cd07876	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd07837	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	42	cd06653	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43_G	cd06651	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43_G	cd06652	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd08224	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	57	cd06654	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	61	cd05098	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	77	cd05051	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	106	cd05046	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	60	cd05095	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	57	cd05096	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	46	cd05050	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	50	cd06636	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	57	cd05097	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	46	cd05049	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	cd05092	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	cd06645	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	cd05094	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	cd05093	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	44	cd05064	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	cd05063	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	47	cd05048	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	cd05090	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	46	cd05091	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	49	cd07865	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd05045	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43	cd07863	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	34_G	cd07853	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	53	cd07834	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd07857	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd05583	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd05616	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	53	cd08528	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38_G	cd08530	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd05578	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd05587	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38	cd08222	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	51	cd05122	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39_G	cd05605	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43	cd06608	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	40	cd06631	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	46	cd08215	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	49	cd06606	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd06626	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd08225	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	40_G	cd08218	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd08223	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43	cd06630	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	46	cd06628	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38	cd07841	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd06627	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	47	cd06632	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd07860	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd07861	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd05615	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43	cd08219	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38	cd07832	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	69	cd05056	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	42	cd07872	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd07870	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	49	cd07858	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43	cd07854	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	47	cd05061	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	42	cd05052	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd05067	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd05034	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd05068	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd05073	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd05070	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	40	cd05039	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	42	cd05148	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	40	cd05082	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	40	cd05083	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd05072	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd05069	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	47	cd05062	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	47	cd05036	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	78	cd05032	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	40	cd05089	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd07844	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd07871	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	42	cd07873	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd05071	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	50	cd07864	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	58	cd07878	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	56	cd06659	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	54	cd07850	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	55_G	cd07851	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	56	cd06647	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	56	cd06656	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	cd06646	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	40	cd06640	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	40	cd06641	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd06613	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	46	cd05038	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	40	cd06642	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	62	cd06639	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	54	cd07877	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	53	cd06634	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	54	cd06607	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	52_G	cd06648	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	47	cd06644	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd05584	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	76	cd05104	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	78	cd05055	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	80	cd05106	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	67	cd05057	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	55	cd06657	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	48	cd05103	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	48	cd05102	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	48	cd05054	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	44_G	cd07866	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	47	cd05109	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	cd05088	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd05112	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd05113	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd05059	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd05114	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43	cd05065	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	67	cd05033	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	44	cd05079	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	44	cd05081	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43	cd05066	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	60	cd05043	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	47	cd05108	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	47	cd05110	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	47	cd05111	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	47	cd06616	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	44	cd05080	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd08529	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	40	cd06637	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38	cd06610	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd07839	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	59	cd07840	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38	cd07829	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	85	cd05581	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	42	cd06611	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	59_G	cd06655	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	47	cd07852	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	42	cd07843	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	116	cd07842	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	42	cd06625	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd07846	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd07831	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38	cd08216	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd07833	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd06917	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37_G	cd05593	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37_G	cd05595	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	31	cd05590	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	31	cd05570	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43	cd05077	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	55	cd05037	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	78	cd00192	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd05078	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	53	cd05076	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd08217	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd05118	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	31	cd05620	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	31	cd05619	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd05592	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	31	cd05085	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	31	cd05041	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd05040	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd08220	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd05044	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	31	cd05084	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	33	cd05087	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd05058	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd05042	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	33	cd05086	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37_G	cd05571	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	34	cd05582	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd05588	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37_G	cd05594	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	31	cd05591	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	33	cd05116	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38	cd05060	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	59	cd06658	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	66	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	68	cd07830	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	135	smart00219	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	162	smart00221	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38	cd07835	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd05589	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38	cd05074	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd06621	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38	cd05075	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	49	cd05035	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38	cd07838	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd06605	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	66	cd06614	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	58	cd05101	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	51	cd07880	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	51	cd06618	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	91	smart00220	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	64_G	cd06635	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	78	cd05105	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	78	cd05107	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43	cd06624	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	40	cd06643	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	55	cd05100	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	55	cd05099	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	55	cd05053	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	53	cd06638	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43	cd07845	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd05577	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	78	cd05572	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	69	cd00180	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	46	cd06612	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd08221	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	29	cd05579	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	49	cd05123	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	33	cd05115	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	33_G	cd05608	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	33	cd05047	4503711,NP_000133
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	44	cd05038	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38	cd06642	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd06613	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	59	cd05098	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	44_G	cd07866	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	cd05110	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	42	cd05080	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd05113	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd05112	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd05059	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd05114	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	58	cd05043	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	cd05111	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43	cd05088	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	cd05109	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	cd06616	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd05065	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	65	cd05033	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	42	cd05079	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	42	cd05081	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd05066	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	cd05108	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	47	cd07865	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	55	cd07876	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	46	cd05103	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	46	cd05102	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	46	cd05054	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	65	cd05057	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	53_G	cd06657	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	74	cd05104	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	76	cd05055	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	78	cd05106	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	59	cd06655	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	40	cd06611	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	80	smart00220	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	64_G	cd06614	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	49	cd06618	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	49	cd07880	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	56	cd05101	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41_G	cd06653	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43	cd06651	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd08224	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd07837	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43	cd06652	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	51_G	cd06638	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd07845	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	52_G	cd06648	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	51	cd06634	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	52	cd07877	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45_G	cd06644	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	49	cd06607	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	55	cd06654	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	42	cd07852	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	40	cd07843	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd05584	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	44	cd05094	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	44	cd05093	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	44	cd05092	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	42	cd05064	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43	cd05063	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	cd05048	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	75	cd05051	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	104	cd05046	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	58	cd05095	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	55	cd05096	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	44	cd05050	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	49_G	cd06636	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	55	cd05097	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	44	cd05049	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43	cd06645	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43	cd05090	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	44	cd05091	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	76	cd05572	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	67	cd00180	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	44	cd06612	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	47	cd05123	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	31	cd05115	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	32	cd05608	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	31	cd05047	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	34	cd08221	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	27	cd05579	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd05577	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	33	cd07831	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd06917	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd07846	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd07833	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	114	cd07842	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	40	cd06625	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd08216	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	76	cd05105	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	76	cd05107	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	64_G	cd06635	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43	cd06646	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38	cd06640	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38	cd06641	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38	cd05089	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	cd05061	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	48	cd07864	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd05071	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	40	cd07873	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd07870	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	40	cd07872	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd07854	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	40	cd05052	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	cd05062	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	cd05036	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	76	cd05032	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	67	cd05056	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	47	cd07858	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd05069	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd07871	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd07844	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd05067	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd05034	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd05068	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd05073	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd05070	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38	cd05039	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	40	cd05148	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38	cd05082	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38	cd05083	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd05072	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	34	cd05589	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd07838	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	59	pfam07714	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43	pfam00069	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	66	cd07830	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	133	smart00219	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd05074	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd06621	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd05075	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	46	cd05035	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd06605	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	151	smart00221	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd07835	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	53	cd05099	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	53	cd05053	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41_G	cd06624	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38_G	cd06643	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	53	cd05100	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	57	cd06658	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd07857	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd08219	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd07832	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd07863	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd05583	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	34	cd05616	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38_G	cd08530	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd05578	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd08222	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd05605	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	34	cd05587	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	52	cd07834	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	34	cd07853	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd07841	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd06627	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd06632	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd05045	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	51	cd08528	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	40	cd08218	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd08223	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd06630	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd06628	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	49	cd05122	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd06608	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	47	cd06606	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd06626	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	37	cd08225	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	34	cd05615	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd07860	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	34	cd07861	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	38	cd06631	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	44	cd08215	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd06610	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	34	cd08529	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	57	cd07840	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd07829	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39_G	cd06637	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	80	cd05581	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	34	cd07839	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	56	cd06619	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41_G	cd08228	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41_G	cd08229	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd06617	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	34	cd07836	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd06615	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	48	cd06609	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	82	cd05580	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43	cd06629	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd05612	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	201	COG0515	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd07862	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd07847	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd06622	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	43	cd06623	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	45	cd07856	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	60	cd06639	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	54_G	cd06659	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	56	cd07878	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	52	cd07850	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	55_G	cd07851	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	54	cd06647	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	54	cd06656	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	29	cd05591	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	31	cd05087	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	39	cd05058	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	34	cd05042	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	31	cd05086	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	31	cd05116	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd05060	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd05595	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	33	cd05118	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	29	cd05085	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	29	cd05041	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	33	cd05040	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd08220	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd05044	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	29	cd05084	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd05594	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	41	cd05077	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	53	cd05037	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	76	cd00192	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35_G	cd05078	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	52_G	cd05076	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd05571	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	33	cd05582	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	33	cd05588	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	29	cd05570	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	29	cd05620	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	29	cd05619	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	35	cd05592	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	29	cd05590	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	34	cd08217	NULL
2261	254028242	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	36	cd05593	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	439	smart00220	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	157	cd07865	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	148	cd06622	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	143	cd06629	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	136	cd07836	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	135	cd06615	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	156	cd06609	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	187	cd05580	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	143	cd07862	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	139	cd07847	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	149	cd06619	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	590	COG0515	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	141	cd07856	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	138	cd06617	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	139	cd08229	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	139	cd08228	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	134	cd05612	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	181	cd06623	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	275	cd05107	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	273	cd05105	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	158	cd06635	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	151	cd07864	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	137	cd05052	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	159	cd07854	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	136	cd07871	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	135	cd05069	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	136	cd07870	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	137	cd07873	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	152	cd05062	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	151	cd05036	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	197	cd05032	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	153	cd05061	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	137	cd07872	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	152	cd05089	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	137	cd07844	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	135	cd05067	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	136	cd05034	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	138	cd05068	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	136	cd05073	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	135	cd05070	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	139	cd05039	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	138	cd05148	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	135	cd05082	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	133	cd05083	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	136	cd05072	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	169	cd05056	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	135	cd05071	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	142	cd07858	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	130	cd05608	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	133	cd05577	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	201	cd05572	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	374	cd00180	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	148	cd06612	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	649	cd05123	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	145	cd05047	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	128	cd05115	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	135	cd08221	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	129	cd05579	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	160	cd05045	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	144	cd07863	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	134	cd08218	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	135	cd08223	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	136	cd06630	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	141	cd06628	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	139	cd08530	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	134	cd05578	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	156	cd08528	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	133	cd07860	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	135	cd07861	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	137	cd06631	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	176	cd08215	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	139	cd05587	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	133	cd08219	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	148	cd07832	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	167	cd05122	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	176	cd07834	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	140	cd08222	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	134	cd05616	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	134	cd05615	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	214	cd06606	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	135	cd06626	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	134	cd08225	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	138	cd05583	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	150	cd07841	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	140	cd06627	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	152	cd06632	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	137	cd07853	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	142	cd07857	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	176	cd06608	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	135	cd05605	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	168	cd06639	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	149	cd06654	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	134	cd07846	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	136	cd08216	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	143	cd06917	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	155	cd07833	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	134	cd07831	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	237	cd07842	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	139	cd06625	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	63	smart00750	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	156	cd07876	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	151	cd06658	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	151	cd07878	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	153	cd07850	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	167	cd07851	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	150	cd06659	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	167	cd05099	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	136	cd06643	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	183	cd05053	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	167	cd05100	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	146	cd06624	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	173	cd05098	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	137	cd05584	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	146	cd05074	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	143	cd06621	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	160	cd05075	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	156	cd05035	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	159	cd07835	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	134	cd05589	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	289	pfam07714	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	224	pfam00069	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	185	cd07830	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	430	smart00219	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	151	cd06605	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	548	smart00221	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	159	cd07838	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	148	cd06655	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	138	cd06611	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	156	cd05094	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	153	cd05093	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	140	cd05064	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	141	cd05063	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	160	cd05048	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	157	cd05090	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	157	cd05091	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	139	cd06645	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	155	cd05092	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	194	cd05051	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	219	cd05046	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	174	cd05095	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	189	cd05096	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	166	cd05050	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	154	cd06636	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	164	cd05097	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	160	cd05049	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	152	cd06618	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	185	cd06614	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	151	cd07880	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	170	cd05101	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	213	cd05103	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	211	cd05102	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	261	cd05054	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	195	cd05057	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	149	cd06657	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	129	cd05571	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	131	cd05582	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	129	cd05588	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	142	cd05118	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	127	cd05085	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	129	cd05041	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	137	cd05040	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	143	cd08220	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	143	cd05044	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	127	cd05084	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	144	cd05620	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	129	cd05619	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	144	cd05592	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	131	cd05570	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	165	cd08217	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	129	cd05594	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	129	cd05590	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	128	cd05116	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	135	cd05060	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	138	cd05077	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	152	cd05037	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	342	cd00192	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	135	cd05078	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	150	cd05076	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	138	cd05087	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	138	cd05058	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	133	cd05086	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	136	cd05042	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	129	cd05591	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	128	cd05595	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	128	cd05593	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	142	cd05109	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	139	cd05065	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	171	cd05033	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	142	cd05079	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	141	cd05081	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	139	cd05066	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	175	cd05043	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	148	cd06616	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	142	cd05108	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	157	cd05088	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	142	cd05110	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	164	cd07866	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	142	cd05111	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	140	cd05080	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	134	cd05113	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	133	cd05112	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	135	cd05059	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	133	cd05114	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	134	cd06640	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	134	cd06641	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	139	cd06646	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	257	cd05104	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	272	cd05055	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	255	cd05106	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	161	cd05038	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	134	cd06642	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	136	cd06613	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	139	cd08529	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	132	cd07839	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	145	cd06610	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	249	cd05581	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	144	cd06637	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	182	cd07840	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	173	cd07829	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	151	cd07843	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	142	cd07852	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	154	cd07845	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	157	cd06638	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	139	cd06651	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	163	cd06652	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	140	cd08224	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	139	cd06653	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	151	cd07837	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	148	cd06656	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	148	cd06647	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	148	cd06634	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	148	cd06607	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	143	cd06644	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	153	cd07877	NULL
2261	13112048	Disease	p.Asp513Asn	134934.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	LADD SYNDROME	OMIM	149	cd06648	NULL
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	586	COG0515	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd05612	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	137	cd07856	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	132	cd07836	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd06615	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	152	cd06609	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	145	cd06619	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	144	cd06622	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	177	cd06623	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	135	cd08228	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	134	cd06617	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	139	cd07862	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	135	cd07847	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	139	cd06629	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	183	cd05580	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	135	cd08229	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	152	cd07876	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	147	cd07837	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	135	cd06653	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	135	cd06651	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	159	cd06652	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	136	cd08224	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	145	cd06654	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	169	cd05098	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	190	cd05051	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	215	cd05046	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	170	cd05095	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	185	cd05096	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	162	cd05050	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	150	cd06636	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	160	cd05097	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	156	cd05049	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	151	cd05092	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	135	cd06645	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	152	cd05094	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	149	cd05093	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	136	cd05064	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	137	cd05063	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	156	cd05048	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	153	cd05090	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	153	cd05091	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	58	smart00750	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	153	cd07865	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	156	cd05045	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	140	cd07863	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd07853	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	172	cd07834	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	138	cd07857	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	134	cd05583	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd05616	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	152	cd08528	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	135	cd08530	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd05578	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	135	cd05587	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	136	cd08222	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	163	cd05122	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd05605	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	172	cd06608	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd06631	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	172	cd08215	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	210	cd06606	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd06626	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd08225	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd08218	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd08223	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	132	cd06630	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	137	cd06628	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	146	cd07841	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	136	cd06627	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	148	cd06632	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd07860	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd07861	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd05615	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd08219	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	144	cd07832	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	165	cd05056	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd07872	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	132	cd07870	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	138	cd07858	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	155	cd07854	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	149	cd05061	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd05052	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd05067	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	132	cd05034	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	134	cd05068	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	132	cd05073	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd05070	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	135	cd05039	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	134	cd05148	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd05082	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd05083	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	132	cd05072	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd05069	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	148	cd05062	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	147	cd05036	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	193	cd05032	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	148	cd05089	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd07844	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	132	cd07871	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd07873	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd05071	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	147	cd07864	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	147	cd07878	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	146	cd06659	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	149	cd07850	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	163	cd07851	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	144	cd06647	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	144	cd06656	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	135	cd06646	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd06640	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd06641	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	132	cd06613	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	157	cd05038	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd06642	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	164	cd06639	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	149	cd07877	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	144	cd06634	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	144	cd06607	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	145	cd06648	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	139	cd06644	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd05584	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	253	cd05104	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	268	cd05055	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	251	cd05106	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	191	cd05057	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	145	cd06657	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	209	cd05103	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	207	cd05102	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	257	cd05054	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	160	cd07866	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	138	cd05109	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	153	cd05088	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd05112	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd05113	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd05059	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd05114	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	135	cd05065	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	167	cd05033	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	138	cd05079	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	137	cd05081	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	135	cd05066	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	171	cd05043	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	138	cd05108	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	138	cd05110	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	138	cd05111	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	144	cd06616	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	136	cd05080	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	135	cd08529	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	140	cd06637	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	141	cd06610	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	128	cd07839	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	178	cd07840	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	169	cd07829	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	245	cd05581	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	134	cd06611	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	144	cd06655	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	138	cd07852	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	147	cd07843	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	233	cd07842	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	135	cd06625	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd07846	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd07831	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	132	cd08216	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	151	cd07833	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	139	cd06917	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	124	cd05593	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	124	cd05595	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	125	cd05590	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	127	cd05570	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	134	cd05077	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	148	cd05037	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	338	cd00192	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd05078	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	146	cd05076	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	161	cd08217	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	138	cd05118	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	140	cd05620	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	125	cd05619	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	140	cd05592	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	123	cd05085	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	125	cd05041	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd05040	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	139	cd08220	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	139	cd05044	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	123	cd05084	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	134	cd05087	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	134	cd05058	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	132	cd05042	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd05086	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	125	cd05571	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	127	cd05582	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	125	cd05588	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	125	cd05594	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	125	cd05591	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	124	cd05116	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd05060	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	147	cd06658	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	285	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	220	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	181	cd07830	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	426	smart00219	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	541	smart00221	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	155	cd07835	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd05589	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	142	cd05074	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	139	cd06621	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	156	cd05075	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	152	cd05035	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	155	cd07838	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	147	cd06605	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	181	cd06614	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	166	cd05101	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	147	cd07880	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	148	cd06618	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	431	smart00220	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	154	cd06635	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	269	cd05105	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	271	cd05107	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	142	cd06624	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	132	cd06643	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	163	cd05100	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	163	cd05099	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	179	cd05053	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	153	cd06638	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	150	cd07845	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd05577	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	197	cd05572	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	370	cd00180	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	144	cd06612	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd08221	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	125	cd05579	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	645	cd05123	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	124	cd05115	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	126	cd05608	4503711,NP_000133
2261	120050	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	141	cd05047	4503711,NP_000133
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	155	cd05038	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	128	cd06642	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd06613	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	167	cd05098	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	158	cd07866	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	136	cd05110	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	134	cd05080	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	128	cd05113	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	127	cd05112	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd05059	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	127	cd05114	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	169	cd05043	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	136	cd05111	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	151	cd05088	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	136	cd05109	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	142	cd06616	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd05065	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	165	cd05033	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	136	cd05079	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	135	cd05081	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd05066	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	136	cd05108	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	151	cd07865	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	150	cd07876	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	207	cd05103	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	205	cd05102	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	255	cd05054	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	189	cd05057	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	143	cd06657	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	251	cd05104	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	266	cd05055	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	249	cd05106	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	142	cd06655	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	132	cd06611	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	429	smart00220	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	179	cd06614	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	146	cd06618	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	145	cd07880	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	164	cd05101	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd06653	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd06651	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	134	cd08224	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	145	cd07837	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	157	cd06652	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	151	cd06638	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	148	cd07845	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	143	cd06648	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	142	cd06634	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	147	cd07877	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	137	cd06644	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	142	cd06607	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	143	cd06654	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	136	cd07852	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	145	cd07843	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd05584	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	150	cd05094	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	147	cd05093	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	149	cd05092	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	134	cd05064	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	135	cd05063	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	154	cd05048	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	188	cd05051	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	213	cd05046	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	168	cd05095	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	183	cd05096	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	160	cd05050	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	148	cd06636	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	158	cd05097	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	154	cd05049	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd06645	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	151	cd05090	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	151	cd05091	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	195	cd05572	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	368	cd00180	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	142	cd06612	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	643	cd05123	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	122	cd05115	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	124	cd05608	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	139	cd05047	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd08221	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	123	cd05579	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	127	cd05577	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	128	cd07831	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	137	cd06917	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	128	cd07846	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	149	cd07833	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	231	cd07842	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd06625	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd08216	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	267	cd05105	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	269	cd05107	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	152	cd06635	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd06646	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	128	cd06640	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	128	cd06641	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	146	cd05089	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	147	cd05061	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	145	cd07864	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd05071	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd07873	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd07870	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd07872	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	153	cd07854	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd05052	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	146	cd05062	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	145	cd05036	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	191	cd05032	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	163	cd05056	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	136	cd07858	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd05069	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd07871	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd07844	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd05067	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd05034	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	132	cd05068	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd05073	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd05070	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd05039	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	132	cd05148	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd05082	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	127	cd05083	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd05072	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	128	cd05589	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	153	cd07838	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	283	pfam07714	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	218	pfam00069	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	179	cd07830	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	424	smart00219	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	140	cd05074	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	137	cd06621	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	154	cd05075	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	150	cd05035	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	145	cd06605	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	539	smart00221	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	153	cd07835	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	161	cd05099	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	177	cd05053	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	140	cd06624	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd06643	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	161	cd05100	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	145	cd06658	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	136	cd07857	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	127	cd08219	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	142	cd07832	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	138	cd07863	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	132	cd05583	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	128	cd05616	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd08530	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	128	cd05578	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	134	cd08222	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd05605	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd05587	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	170	cd07834	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd07853	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	144	cd07841	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	134	cd06627	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	146	cd06632	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	154	cd05045	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	150	cd08528	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	128	cd08218	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd08223	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd06630	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	135	cd06628	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	161	cd05122	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	170	cd06608	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	208	cd06606	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd06626	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	128	cd08225	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	128	cd05615	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	127	cd07860	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd07861	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd06631	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	170	cd08215	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	139	cd06610	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd08529	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	176	cd07840	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	167	cd07829	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	138	cd06637	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	243	cd05581	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	126	cd07839	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	143	cd06619	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd08228	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd08229	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	132	cd06617	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd07836	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd06615	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	150	cd06609	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	181	cd05580	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	137	cd06629	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	128	cd05612	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	559	COG0515	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	137	cd07862	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	133	cd07847	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	142	cd06622	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	175	cd06623	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	135	cd07856	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	162	cd06639	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	144	cd06659	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	145	cd07878	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	147	cd07850	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	161	cd07851	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	50	smart00750	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	142	cd06647	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	142	cd06656	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	123	cd05591	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	132	cd05087	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	132	cd05058	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	130	cd05042	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	127	cd05086	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	122	cd05116	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd05060	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	122	cd05595	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	136	cd05118	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	121	cd05085	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	123	cd05041	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	131	cd05040	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	137	cd08220	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	137	cd05044	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	121	cd05084	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	123	cd05594	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	132	cd05077	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	146	cd05037	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	336	cd00192	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	129	cd05078	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	144	cd05076	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	123	cd05571	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	125	cd05582	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	123	cd05588	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	125	cd05570	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	138	cd05620	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	123	cd05619	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	138	cd05592	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	123	cd05590	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	159	cd08217	NULL
2261	254028242	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	122	cd05593	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	1192	smart00220	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	326	cd07865	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	267	cd06622	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	259	cd06629	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	246	cd07836	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	288	cd06615	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	278	cd06609	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	305	cd05580	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	247	cd07862	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	249	cd07847	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	269	cd06619	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	1149	COG0515	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	248	cd07856	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	249	cd06617	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	247	cd08229	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	247	cd08228	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	239	cd05612	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	324	cd06623	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	384	cd05107	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	382	cd05105	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	263	cd06635	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	263	cd07864	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	244	cd05052	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	284	cd07854	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	247	cd07871	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	242	cd05069	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	245	cd07870	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	247	cd07873	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	260	cd05062	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	263	cd05036	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	309	cd05032	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	261	cd05061	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	248	cd07872	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	257	cd05089	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	243	cd07844	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	268	cd05067	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	255	cd05034	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	248	cd05068	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	243	cd05073	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	242	cd05070	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	246	cd05039	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	278	cd05148	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	238	cd05082	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	236	cd05083	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	243	cd05072	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	279	cd05056	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	242	cd05071	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	264	cd07858	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	238	cd05608	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	243	cd05577	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	320	cd05572	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	846	cd00180	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	262	cd06612	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	888	cd05123	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	250	cd05047	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	237	cd05115	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	244	cd08221	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	807	cd05579	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	268	cd05045	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	252	cd07863	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	239	cd08218	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	240	cd08223	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	251	cd06630	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	255	cd06628	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	247	cd08530	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	266	cd05578	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	262	cd08528	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	237	cd07860	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	239	cd07861	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	250	cd06631	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	321	cd08215	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	243	cd05587	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	238	cd08219	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	286	cd07832	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	337	cd05122	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	462	cd07834	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	244	cd08222	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	238	cd05616	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	238	cd05615	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	413	cd06606	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	291	cd06626	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	240	cd08225	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	250	cd05583	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	320	cd07841	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	286	cd06627	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	266	cd06632	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	275	cd07853	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	310	cd07857	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	293	cd06608	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	242	cd05605	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	280	cd06639	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	256	cd06654	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	243	cd07846	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	297	cd08216	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	256	cd06917	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	354	cd07833	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	283	cd07831	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	421	cd07842	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	249	cd06625	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	271	smart00750	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	278	cd07876	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	259_G	cd06658	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	273	cd07878	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	278	cd07850	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	292	cd07851	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	257	cd06659	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	275	cd05099	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	248	cd06643	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	292	cd05053	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	276	cd05100	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	256	cd06624	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	281	cd05098	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	241	cd05584	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	254	cd05074	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	261	cd06621	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	268	cd05075	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	265	cd05035	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	264	cd07835	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	238	cd05589	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	467	pfam07714	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	452	pfam00069	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	379	cd07830	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	685	smart00219	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	322	cd06605	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	1066	smart00221	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	288	cd07838	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	255	cd06655	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	250	cd06611	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	324	cd05094	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	261	cd05093	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	248	cd05064	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	250	cd05063	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	268	cd05048	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	265	cd05090	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	265	cd05091	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	251	cd06645	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	263	cd05092	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	335	cd05051	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	328	cd05046	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	291	cd05095	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	316	cd05096	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	274	cd05050	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	265	cd06636	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	280	cd05097	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	276	cd05049	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	268	cd06618	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	294	cd06614	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	273	cd07880	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	278	cd05101	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	322	cd05103	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	320	cd05102	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	371	cd05054	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	304	cd05057	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	256	cd06657	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	233	cd05571	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	235	cd05582	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	242	cd05588	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	294	cd05118	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	234	cd05085	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	237	cd05041	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	254	cd05040	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	248	cd08220	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	258	cd05044	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	235	cd05084	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	248	cd05620	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	233	cd05619	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	249	cd05592	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	244	cd05570	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	312	cd08217	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	256	cd05594	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	233	cd05590	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	237	cd05116	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	244	cd05060	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	246	cd05077	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	279	cd05037	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	505	cd00192	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	244	cd05078	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	259	cd05076	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	257	cd05087	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	248	cd05058	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	252	cd05086	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	256	cd05042	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	233	cd05591	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	232	cd05595	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	255	cd05593	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	250	cd05109	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	250	cd05065	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	284	cd05033	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	265	cd05079	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	265	cd05081	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	248	cd05066	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	286	cd05043	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	265	cd06616	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	250	cd05108	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	262	cd05088	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	250	cd05110	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	336	cd07866	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	250	cd05111	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	263	cd05080	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	241	cd05113	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	240	cd05112	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	242	cd05059	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	240	cd05114	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	239	cd06640	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	239	cd06641	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	251	cd06646	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	366	cd05104	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	381	cd05055	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	364	cd05106	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	311	cd05038	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	239	cd06642	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	251	cd06613	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	248	cd08529	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	247	cd07839	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	275	cd06610	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	513	cd05581	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	255	cd06637	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	368	cd07840	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	322	cd07829	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	296	cd07843	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	301	cd07852	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	313	cd07845	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	269	cd06638	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	248	cd06651	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	272	cd06652	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	249	cd08224	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	248	cd06653	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	255	cd07837	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	255	cd06656	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	255	cd06647	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	255	cd06634	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	259	cd06607	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	255	cd06644	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	271	cd07877	NULL
2261	13112048	Disease	p.Arg621His	134934.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	OMIM	257	cd06648	NULL
2261	120050	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	12	cd05765	4503711,NP_000133
2261	120050	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	13	cd04974	4503711,NP_000133
2261	120050	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	13	cd05858	4503711,NP_000133
2261	120050	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	17	pfam00047	4503711,NP_000133
2261	120050	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	9	cd05725	4503711,NP_000133
2261	120050	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	9	cd00096	4503711,NP_000133
2261	120050	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	14	smart00408	4503711,NP_000133
2261	120050	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	18	pfam07686	4503711,NP_000133
2261	120050	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	27	pfam07679	4503711,NP_000133
2261	120050	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	20	cd05729	4503711,NP_000133
2261	120050	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	27	cd04968	4503711,NP_000133
2261	120050	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	28	cd05732	4503711,NP_000133
2261	120050	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	23	smart00409	4503711,NP_000133
2261	120050	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	23	smart00410	4503711,NP_000133
2261	120050	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	10	cd05723	4503711,NP_000133
2261	254028242	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	13	cd04974	NULL
2261	254028242	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	13	cd05858	NULL
2261	254028242	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	17	pfam00047	NULL
2261	254028242	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	9	cd00096	NULL
2261	254028242	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	18	pfam07686	NULL
2261	254028242	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	27	pfam07679	NULL
2261	254028242	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	28	cd05732	NULL
2261	254028242	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	23	smart00409	NULL
2261	254028242	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	23	smart00410	NULL
2261	13112048	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	13	cd05858	NULL
2261	13112048	Disease	p.Ser279Cys	134934.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	ACHONDROPLASIA||HYPOCHONDROPLASIA	OMIM	13	cd04974	NULL
2261	120050	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	11	cd05765	4503711,NP_000133
2261	120050	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	12	cd04974	4503711,NP_000133
2261	120050	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	12	cd05858	4503711,NP_000133
2261	120050	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	16	pfam00047	4503711,NP_000133
2261	120050	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	8	cd05725	4503711,NP_000133
2261	120050	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	8	cd00096	4503711,NP_000133
2261	120050	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	13	smart00408	4503711,NP_000133
2261	120050	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	17	pfam07686	4503711,NP_000133
2261	120050	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	26	pfam07679	4503711,NP_000133
2261	120050	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	19	cd05729	4503711,NP_000133
2261	120050	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	26	cd04968	4503711,NP_000133
2261	120050	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	27	cd05732	4503711,NP_000133
2261	120050	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	21	smart00409	4503711,NP_000133
2261	120050	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	21	smart00410	4503711,NP_000133
2261	120050	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	9	cd05723	4503711,NP_000133
2261	254028242	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	12	cd04974	NULL
2261	254028242	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	12	cd05858	NULL
2261	254028242	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	16	pfam00047	NULL
2261	254028242	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	8	cd00096	NULL
2261	254028242	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	17	pfam07686	NULL
2261	254028242	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	26	pfam07679	NULL
2261	254028242	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	27	cd05732	NULL
2261	254028242	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	21	smart00409	NULL
2261	254028242	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	21	smart00410	NULL
2261	13112048	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	12	cd05858	NULL
2261	13112048	Disease	p.Tyr278Cys	134934.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	12	cd04974	NULL
2261	120050	Disease	p.Ser84Leu	134934.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	84	cd00096	4503711,NP_000133
2261	120050	Disease	p.Ser84Leu	134934.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	smart00408	4503711,NP_000133
2261	120050	Disease	p.Ser84Leu	134934.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	117	smart00409	4503711,NP_000133
2261	120050	Disease	p.Ser84Leu	134934.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	117	smart00410	4503711,NP_000133
2261	120050	Disease	p.Ser84Leu	134934.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	35	pfam00047	4503711,NP_000133
2261	254028242	Disease	p.Ser84Leu	134934.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	84	cd00096	NULL
2261	254028242	Disease	p.Ser84Leu	134934.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	smart00408	NULL
2261	254028242	Disease	p.Ser84Leu	134934.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	117	smart00409	NULL
2261	254028242	Disease	p.Ser84Leu	134934.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	117	smart00410	NULL
2261	254028242	Disease	p.Ser84Leu	134934.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	35	pfam00047	NULL
2261	13112048	Disease	p.Ser84Leu	134934.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	84	cd00096	NULL
2261	13112048	Disease	p.Ser84Leu	134934.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	62	smart00408	NULL
2261	13112048	Disease	p.Ser84Leu	134934.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	117	smart00409	NULL
2261	13112048	Disease	p.Ser84Leu	134934.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	117	smart00410	NULL
2261	13112048	Disease	p.Ser84Leu	134934.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	HYPOCHONDROPLASIA	OMIM	35	pfam00047	NULL
2261	120050	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	No Domain	N/A	4503711,NP_000133
2261	254028242	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	No Domain	N/A	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	24	cd07865	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	13	cd06622	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	13	cd06629	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd07836	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	13	cd06615	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	14	cd06609	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	13	cd05580	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	13	cd07862	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	13	cd07847	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	13	cd06619	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	54	COG0515	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	22	cd07856	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	13	cd06617	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	14	cd08229	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	14	cd08228	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	13	cd05612	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd06623	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	49	cd05107	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	49	cd05105	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	37	cd06635	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	19	cd07864	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd05052	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd07854	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd07871	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd05069	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd07870	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd07873	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd05062	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd05036	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	20	cd05032	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd05061	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd07872	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	14	cd05089	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd07844	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd05067	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd05034	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd05068	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd05073	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd05070	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd05039	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd05148	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd05082	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd05083	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd05072	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd05056	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd05071	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd07858	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	5	cd05608	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	5	cd05577	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	5	cd05572	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	5	cd00180	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	15	cd06612	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	5	cd05123	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05047	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05115	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd08221	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	5	cd05579	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd05045	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd07863	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd08218	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd08223	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd06630	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd06628	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd08530	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd05578	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd08528	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd07860	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd07861	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd06631	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd08215	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd05587	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd08219	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd07832	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	19	cd05122	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	14	cd07834	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd08222	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd05616	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd05615	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	19	cd06606	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	13	cd06626	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd08225	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd05583	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	13	cd07841	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	13	cd06627	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd06632	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd07853	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd07857	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	18	cd06608	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd05605	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	34	cd06639	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	32	cd06654	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	13	cd07846	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	10	cd08216	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	13	cd06917	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	13	cd07833	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	11	cd07831	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	13	cd07842	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	14	cd06625	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	33	cd07876	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	34	cd06658	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	27	cd07878	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	28	cd07850	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	27	cd07851	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	33	cd06659	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	24	cd05099	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd06643	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	24	cd05053	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	24	cd05100	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	20	cd06624	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	30	cd05098	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	8	cd05584	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	11	cd05074	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	13	cd06621	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	11	cd05075	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	11	cd05035	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	11	cd07835	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	11	cd05589	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	15	pfam07714	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	11	pfam00069	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	11	cd07830	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	11	smart00219	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	13	cd06605	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	11	smart00221	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	11	cd07838	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	31	cd06655	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd06611	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd05094	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd05093	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd05064	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd05063	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd05048	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd05090	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd05091	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	21	cd06645	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd05092	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	25	cd05051	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd05046	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd05095	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd05096	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd05050	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	19	cd06636	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd05097	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd05049	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	27	cd06618	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	32	cd06614	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	27	cd07880	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	27	cd05101	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	19	cd05103	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	19	cd05102	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	19	cd05054	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	30	cd05057	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	32	cd06657	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05571	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	8	cd05582	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05588	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	11	cd05118	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05085	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05041	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05040	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd08220	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05044	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05084	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05620	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05619	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05592	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05570	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd08217	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05594	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05590	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05116	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05060	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05077	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05037	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd00192	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05078	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05076	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05087	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05058	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05086	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05042	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05591	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05595	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	7	cd05593	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	19	cd05109	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	16	cd05065	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	16	cd05033	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	16	cd05079	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	16	cd05081	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	16	cd05066	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	19	cd05043	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	16	cd06616	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	19	cd05108	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	19	cd05088	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	19	cd05110	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	21	cd07866	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	19	cd05111	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	16	cd05080	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	16	cd05113	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	16	cd05112	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	16	cd05059	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	16	cd05114	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	16	cd06640	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	16	cd06641	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	21	cd06646	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	47	cd05104	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	49	cd05055	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	50	cd05106	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	17	cd05038	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	16	cd06642	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	15	cd06613	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd08529	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd07839	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	13	cd06610	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	20	cd05581	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	9	cd06637	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	15	cd07840	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	12	cd07829	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	19	cd07845	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	30	cd06638	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	14	cd06651	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	14	cd06652	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	14	cd08224	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	14	cd06653	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	13	cd07837	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	31	cd06656	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	31	cd06647	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	27	cd06634	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	27	cd06607	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	24	cd06644	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	29	cd07877	NULL
2261	13112048	Disease	p.Gly370Cys	134934.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL	OMIM	31	cd06648	NULL
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	364	COG0515	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd05612	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	73	cd07856	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	62	cd07836	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd06615	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	77	cd06609	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	84	cd06619	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd06622	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	83	cd06623	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd08228	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd06617	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	68	cd07862	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd07847	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	72	cd06629	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	113	cd05580	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd08229	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	84	cd07876	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd07837	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	68	cd06653	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	68	cd06651	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	68	cd06652	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd08224	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	81	cd06654	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	88	cd05098	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	105	cd05051	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	132	cd05046	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	86	cd05095	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	83	cd05096	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	72	cd05050	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	77	cd06636	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	83	cd05097	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	72	cd05049	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	71	cd05092	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	70	cd06645	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	71	cd05094	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	71	cd05093	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	70	cd05064	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	71	cd05063	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	73	cd05048	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	71	cd05090	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	72	cd05091	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	76	cd07865	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd05045	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	69	cd07863	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd07853	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	93	cd07834	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd07857	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	69	cd05583	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd05616	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	82	cd08528	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd08530	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd05578	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	70	cd05587	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd08222	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	80	cd05122	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd05605	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	92	cd06608	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd06631	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	82	cd08215	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	128	cd06606	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd06626	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd08225	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd08218	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd08223	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd06630	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	72	cd06628	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	78	cd07841	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	68	cd06627	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	73	cd06632	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd07860	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd07861	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd05615	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	62	cd08219	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	70	cd07832	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	100	cd05056	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	68	cd07872	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd07870	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	69	cd07858	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	69	cd07854	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	73	cd05061	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd05052	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd05067	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd05034	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd05068	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd05073	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd05070	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd05039	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd05148	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05082	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05083	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd05072	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd05069	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	73	cd05062	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	73	cd05036	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	104	cd05032	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd05089	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd07844	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd07871	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	68	cd07873	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd05071	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	70	cd07864	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	78	cd07878	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	82	cd06659	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	80	cd07850	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	85	cd07851	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	80	cd06647	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	80	cd06656	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	70	cd06646	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd06640	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd06641	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd06613	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	74	cd05038	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd06642	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	90	cd06639	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	80	cd07877	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	79	cd06634	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	79	cd06607	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	80	cd06648	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	73	cd06644	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	68	cd05584	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	103	cd05104	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	105	cd05055	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	107	cd05106	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	122	cd05057	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	81	cd06657	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	75	cd05103	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	75	cd05102	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	75	cd05054	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	72	cd07866	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	73	cd05109	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	72	cd05088	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05112	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05113	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05059	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05114	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	69	cd05065	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	93	cd05033	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	70	cd05079	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	69	cd05081	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	69	cd05066	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	87	cd05043	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	73	cd05108	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	73	cd05110	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	73	cd05111	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	74	cd06616	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	70	cd05080	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd08529	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd06637	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd06610	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd07839	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	90	cd07840	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	72	cd07829	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	116	cd05581	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	68	cd06611	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	80	cd06655	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	72	cd07852	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	73	cd07843	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	158	cd07842	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	68	cd06625	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd07846	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	62	cd07831	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd08216	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	85	cd07833	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	72	cd06917	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	59	cd05593	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	59	cd05595	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	60	cd05590	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	62	cd05570	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	68	cd05077	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	80	cd05037	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	115	cd00192	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05078	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	80	cd05076	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd08217	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd05118	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	60	cd05620	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	60	cd05619	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	60	cd05592	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	57	cd05085	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	58	cd05041	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05040	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd08220	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05044	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	57	cd05084	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	59	cd05087	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd05058	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	62	cd05042	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	59	cd05086	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	59	cd05571	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	62	cd05582	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	60	cd05588	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	59	cd05594	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	60	cd05591	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	60	cd05116	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd05060	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	83	cd06658	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	99	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	100	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	97	cd07830	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	218	smart00219	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	296	smart00221	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	69	cd07835	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd05589	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd05074	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd06621	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd05075	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	75	cd05035	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	71	cd07838	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd06605	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	92	cd06614	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	85	cd05101	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	78	cd07880	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	78	cd06618	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	199	smart00220	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	89	cd06635	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	105	cd05105	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	105	cd05107	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	69	cd06624	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd06643	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	82	cd05100	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	82	cd05099	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	82	cd05053	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	79	cd06638	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	70	cd07845	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	60	cd05577	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	106	cd05572	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	176	cd00180	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	74	cd06612	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd08221	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	59	cd05579	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	98	cd05123	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	59	cd05115	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	57	cd05608	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	60	cd05047	4503711,NP_000133
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	72	cd05038	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd06642	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd06613	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	86	cd05098	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	70	cd07866	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	71	cd05110	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	68	cd05080	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	61	cd05113	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	61	cd05112	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	61	cd05059	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	61	cd05114	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	85	cd05043	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	71	cd05111	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	70	cd05088	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	71	cd05109	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	72	cd06616	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd05065	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	91	cd05033	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	68	cd05079	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd05081	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd05066	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	71	cd05108	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	74	cd07865	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	82	cd07876	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	73	cd05103	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	73	cd05102	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	73	cd05054	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	120	cd05057	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	79	cd06657	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	101	cd05104	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	103	cd05055	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	105	cd05106	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	78	cd06655	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd06611	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	197	smart00220	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	90	cd06614	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	76	cd06618	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	76	cd07880	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	83	cd05101	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd06653	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd06651	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd08224	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd07837	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd06652	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	77	cd06638	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	68	cd07845	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	78	cd06648	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	77	cd06634	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	78	cd07877	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	71	cd06644	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	77	cd06607	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	79	cd06654	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	70	cd07852	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	71	cd07843	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd05584	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	69	cd05094	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	69	cd05093	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	69	cd05092	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	68	cd05064	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	69	cd05063	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	71	cd05048	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	103	cd05051	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	130	cd05046	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	84	cd05095	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	81	cd05096	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	70	cd05050	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	75	cd06636	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	81	cd05097	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	70	cd05049	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	68	cd06645	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	69	cd05090	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	70	cd05091	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	104	cd05572	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	174	cd00180	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	72	cd06612	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	96	cd05123	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	57	cd05115	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	55	cd05608	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	58	cd05047	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	61	cd08221	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	57	cd05579	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	58	cd05577	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	60	cd07831	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	70	cd06917	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd07846	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	83	cd07833	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	156	cd07842	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd06625	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd08216	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	103	cd05105	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	103	cd05107	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	87	cd06635	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	68	cd06646	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd06640	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd06641	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd05089	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	71	cd05061	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	68	cd07864	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05071	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd07873	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd07870	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd07872	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd07854	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd05052	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	71	cd05062	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	71	cd05036	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	102	cd05032	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	98	cd05056	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd07858	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05069	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd07871	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd07844	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05067	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05034	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05068	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05073	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05070	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd05039	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd05148	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	61	cd05082	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	61	cd05083	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05072	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd05589	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	69	cd07838	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	97	pfam07714	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	96	pfam00069	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	95	cd07830	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	216	smart00219	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05074	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd06621	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	62	cd05075	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	73	cd05035	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd06605	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	294	smart00221	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd07835	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	80	cd05099	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	80	cd05053	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd06624	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd06643	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	80	cd05100	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	81	cd06658	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd07857	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	60	cd08219	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	68	cd07832	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd07863	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	67	cd05583	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05616	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	62	cd08530	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	62	cd05578	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd08222	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	62	cd05605	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	68	cd05587	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	91	cd07834	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	61	cd07853	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	76	cd07841	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd06627	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	71	cd06632	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd05045	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	80	cd08528	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	61	cd08218	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	61	cd08223	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd06630	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	70	cd06628	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	78	cd05122	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	90	cd06608	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	126	cd06606	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd06626	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	61	cd08225	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05615	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	61	cd07860	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	62	cd07861	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd06631	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	80	cd08215	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd06610	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd08529	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	88	cd07840	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	70	cd07829	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd06637	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	114	cd05581	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	61	cd07839	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	82	cd06619	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd08228	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd08229	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	62	cd06617	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	60	cd07836	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	61	cd06615	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	75	cd06609	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	111	cd05580	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	70	cd06629	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05612	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	362	COG0515	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd07862	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	62	cd07847	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	61	cd06622	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	81	cd06623	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	71	cd07856	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	88	cd06639	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	80	cd06659	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	76	cd07878	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	78	cd07850	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	83	cd07851	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	78	cd06647	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	78	cd06656	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	58	cd05591	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	57	cd05087	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	65	cd05058	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	60	cd05042	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	57	cd05086	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	58	cd05116	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd05060	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	57	cd05595	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	64	cd05118	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	55	cd05085	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	56	cd05041	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	61	cd05040	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	63	cd08220	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	61	cd05044	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	55	cd05084	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	57	cd05594	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	66	cd05077	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	78	cd05037	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	113	cd00192	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	61	cd05078	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	78	cd05076	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	57	cd05571	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	60	cd05582	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	58	cd05588	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	60	cd05570	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	58	cd05620	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	58	cd05619	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	58	cd05592	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	58	cd05590	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	61	cd08217	NULL
2261	254028242	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	57	cd05593	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	663	smart00220	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	187	cd07865	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	174	cd06622	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	171	cd06629	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd07836	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	157	cd06615	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	189	cd06609	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	227_G	cd05580	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	168	cd07862	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	168	cd07847	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	174	cd06619	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	795	COG0515	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	169	cd07856	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd06617	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd08229	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd08228	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	158	cd05612	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	214	cd06623	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	302	cd05107	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	300	cd05105	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	185	cd06635	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	178	cd07864	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	163	cd05052	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	188	cd07854	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd07871	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd05069	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd07870	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd07873	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	179	cd05062	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	182	cd05036	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	224	cd05032	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	180	cd05061	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd07872	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	176	cd05089	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd07844	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd05067	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	169	cd05034	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd05068	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	163	cd05073	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd05070	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd05039	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd05148	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160_G	cd05082	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	155	cd05083	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd05072	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	197	cd05056	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd05071	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	170	cd07858	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	155	cd05608	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	157	cd05577	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	228_G	cd05572	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	618	cd00180	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	176	cd06612	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	682	cd05123	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	169	cd05047	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	156	cd05115	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd08221	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	152	cd05579	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	187	cd05045	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	168	cd07863	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd08218	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd08223	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd06630	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	168	cd06628	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	168	cd08530	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	166	cd05578	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	183	cd08528	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	158	cd07860	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd07861	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd06631	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	234_G	cd08215	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	166	cd05587	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd08219	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	181_G	cd07832	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	200	cd05122	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	234	cd07834	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	166	cd08222	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd05616	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd05615	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	276	cd06606	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	155_G	cd06626	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd08225	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd05583	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	177	cd07841	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd06627	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	175	cd06632	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	163	cd07853	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	170	cd07857	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	203	cd06608	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159_G	cd05605	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	195	cd06639	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	175	cd06654	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	163	cd07846	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	169	cd08216	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	172	cd06917	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	195	cd07833	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	157	cd07831	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	270	cd07842	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	163	cd06625	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	100	smart00750	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	183	cd07876	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	178	cd06658	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	172	cd07878	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	179	cd07850	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	191	cd07851	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	176	cd06659	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	194	cd05099	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd06643	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	210	cd05053	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	194	cd05100	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	174	cd06624	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	200	cd05098	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd05584	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	173	cd05074	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	175_G	cd06621	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	187	cd05075	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	183	cd05035	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	185	cd07835	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd05589	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	338	pfam07714	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	287	pfam00069	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	241_G	cd07830	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	532	smart00219	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	182	cd06605	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	719	smart00221	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	190	cd07838	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	174	cd06655	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd06611	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	190	cd05094	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	180	cd05093	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd05064	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	168	cd05063	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	187	cd05048	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	184	cd05090	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	184	cd05091	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	166	cd06645	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	182	cd05092	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	225	cd05051	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	245	cd05046	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	201	cd05095	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	227	cd05096	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	193	cd05050	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	181	cd06636	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	191	cd05097	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	192	cd05049	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	176	cd06618	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	200	cd06614	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	172	cd07880	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	197	cd05101	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	240	cd05103	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	238	cd05102	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	289	cd05054	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	223	cd05057	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	176	cd06657	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	154	cd05571	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	156	cd05582	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	154	cd05588	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	173	cd05118	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	153	cd05085	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	156	cd05041	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	169	cd05040	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	169	cd08220	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	177	cd05044	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	154	cd05084	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	171	cd05620	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	154	cd05619	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	171	cd05592	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	156	cd05570	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	237_G	cd08217	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	156	cd05594	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	156	cd05590	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	156	cd05116	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	163	cd05060	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	168	cd05077	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	185	cd05037	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	389	cd00192	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	168_G	cd05078	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	182	cd05076	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd05087	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	165	cd05058	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd05086	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164	cd05042	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	156	cd05591	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	155	cd05595	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	155	cd05593	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	169	cd05109	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	169	cd05065	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	202	cd05033	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	170	cd05079	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	169	cd05081	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	167	cd05066	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	205	cd05043	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	173	cd06616	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	169	cd05108	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	181	cd05088	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	169	cd05110	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	191	cd07866	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	169	cd05111	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	168	cd05080	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160	cd05113	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd05112	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd05059	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	159	cd05114	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd06640	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd06641	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	166	cd06646	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	284	cd05104	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	299	cd05055	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	282	cd05106	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	193	cd05038	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	161	cd06642	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	163	cd06613	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	166	cd08529	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	160_G	cd07839	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	173	cd06610	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	392	cd05581	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	171	cd06637	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	210	cd07840	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	200_G	cd07829	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	171_G	cd07843	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	176	cd07852	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	181	cd07845	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	184	cd06638	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	163	cd06651	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	187	cd06652	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	162	cd08224	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	164_G	cd06653	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	177	cd07837	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	174	cd06656	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	174	cd06647	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	175	cd06634	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	174_G	cd06607	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	169	cd06644	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	174	cd07877	NULL
2261	13112048	Disease	p.Asn540Lys	134934.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134934	THANATOPHORIC DYSPLASIA, TYPE I	OMIM	176	cd06648	NULL
2266	20178280	Disease	p.Arg275Cys	134850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BALTIMORE 4||FIBRINOGEN MORIOKA 1, FIBRINOGEN OSAKA 2, FIBRINOGEN TOCHIGI 1, FIBRINOGEN TOKYO 2	OMIM	124	cd00087	70906439,NP_068656
2266	20178280	Disease	p.Arg275Cys	134850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BALTIMORE 4||FIBRINOGEN MORIOKA 1, FIBRINOGEN OSAKA 2, FIBRINOGEN TOCHIGI 1, FIBRINOGEN TOKYO 2	OMIM	115	pfam00147	70906439,NP_068656
2266	20178280	Disease	p.Arg275Cys	134850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BALTIMORE 4||FIBRINOGEN MORIOKA 1, FIBRINOGEN OSAKA 2, FIBRINOGEN TOCHIGI 1, FIBRINOGEN TOKYO 2	OMIM	127	smart00186	70906439,NP_068656
2266	70906437	Disease	p.Arg275Cys	134850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BALTIMORE 4||FIBRINOGEN MORIOKA 1, FIBRINOGEN OSAKA 2, FIBRINOGEN TOCHIGI 1, FIBRINOGEN TOKYO 2	OMIM	124	cd00087	NULL
2266	70906437	Disease	p.Arg275Cys	134850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BALTIMORE 4||FIBRINOGEN MORIOKA 1, FIBRINOGEN OSAKA 2, FIBRINOGEN TOCHIGI 1, FIBRINOGEN TOKYO 2	OMIM	115	pfam00147	NULL
2266	70906437	Disease	p.Arg275Cys	134850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BALTIMORE 4||FIBRINOGEN MORIOKA 1, FIBRINOGEN OSAKA 2, FIBRINOGEN TOCHIGI 1, FIBRINOGEN TOKYO 2	OMIM	127	smart00186	NULL
2266	20178280	Disease	p.Arg275His	134850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BERGAMO 2||FIBRINOGEN ESSEN 1, FIBRINOGEN HAIFA 1, FIBRINOGEN PERUGIA 1, FIBRINOGEN SAGA 1, FIBRINOGEN OSAKA 3	OMIM	124	cd00087	70906439,NP_068656
2266	20178280	Disease	p.Arg275His	134850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BERGAMO 2||FIBRINOGEN ESSEN 1, FIBRINOGEN HAIFA 1, FIBRINOGEN PERUGIA 1, FIBRINOGEN SAGA 1, FIBRINOGEN OSAKA 3	OMIM	115	pfam00147	70906439,NP_068656
2266	20178280	Disease	p.Arg275His	134850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BERGAMO 2||FIBRINOGEN ESSEN 1, FIBRINOGEN HAIFA 1, FIBRINOGEN PERUGIA 1, FIBRINOGEN SAGA 1, FIBRINOGEN OSAKA 3	OMIM	127	smart00186	70906439,NP_068656
2266	70906437	Disease	p.Arg275His	134850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BERGAMO 2||FIBRINOGEN ESSEN 1, FIBRINOGEN HAIFA 1, FIBRINOGEN PERUGIA 1, FIBRINOGEN SAGA 1, FIBRINOGEN OSAKA 3	OMIM	124	cd00087	NULL
2266	70906437	Disease	p.Arg275His	134850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BERGAMO 2||FIBRINOGEN ESSEN 1, FIBRINOGEN HAIFA 1, FIBRINOGEN PERUGIA 1, FIBRINOGEN SAGA 1, FIBRINOGEN OSAKA 3	OMIM	115	pfam00147	NULL
2266	70906437	Disease	p.Arg275His	134850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BERGAMO 2||FIBRINOGEN ESSEN 1, FIBRINOGEN HAIFA 1, FIBRINOGEN PERUGIA 1, FIBRINOGEN SAGA 1, FIBRINOGEN OSAKA 3	OMIM	127	smart00186	NULL
2266	20178280	Disease	p.Gly292Val	134850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BALTIMORE 1	OMIM	150	cd00087	70906439,NP_068656
2266	20178280	Disease	p.Gly292Val	134850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BALTIMORE 1	OMIM	132	pfam00147	70906439,NP_068656
2266	20178280	Disease	p.Gly292Val	134850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BALTIMORE 1	OMIM	144	smart00186	70906439,NP_068656
2266	70906437	Disease	p.Gly292Val	134850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BALTIMORE 1	OMIM	150	cd00087	NULL
2266	70906437	Disease	p.Gly292Val	134850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BALTIMORE 1	OMIM	132	pfam00147	NULL
2266	70906437	Disease	p.Gly292Val	134850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BALTIMORE 1	OMIM	144	smart00186	NULL
2266	20178280	Disease	p.Asn308Lys	134850.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN KYOTO 1	OMIM	171	cd00087	70906439,NP_068656
2266	20178280	Disease	p.Asn308Lys	134850.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN KYOTO 1	OMIM	148	pfam00147	70906439,NP_068656
2266	20178280	Disease	p.Asn308Lys	134850.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN KYOTO 1	OMIM	172	smart00186	70906439,NP_068656
2266	70906437	Disease	p.Asn308Lys	134850.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN KYOTO 1	OMIM	171	cd00087	NULL
2266	70906437	Disease	p.Asn308Lys	134850.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN KYOTO 1	OMIM	148	pfam00147	NULL
2266	70906437	Disease	p.Asn308Lys	134850.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN KYOTO 1	OMIM	172	smart00186	NULL
2266	20178280	Disease	p.Asn308Ile	134850.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BALTIMORE 3	OMIM	171	cd00087	70906439,NP_068656
2266	20178280	Disease	p.Asn308Ile	134850.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BALTIMORE 3	OMIM	148	pfam00147	70906439,NP_068656
2266	20178280	Disease	p.Asn308Ile	134850.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BALTIMORE 3	OMIM	172	smart00186	70906439,NP_068656
2266	70906437	Disease	p.Asn308Ile	134850.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BALTIMORE 3	OMIM	171	cd00087	NULL
2266	70906437	Disease	p.Asn308Ile	134850.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BALTIMORE 3	OMIM	148	pfam00147	NULL
2266	70906437	Disease	p.Asn308Ile	134850.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN BALTIMORE 3	OMIM	172	smart00186	NULL
2266	20178280	Disease	p.Met310Thr	134850.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN ASAHI	OMIM	173	cd00087	70906439,NP_068656
2266	20178280	Disease	p.Met310Thr	134850.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN ASAHI	OMIM	150	pfam00147	70906439,NP_068656
2266	20178280	Disease	p.Met310Thr	134850.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN ASAHI	OMIM	174	smart00186	70906439,NP_068656
2266	70906437	Disease	p.Met310Thr	134850.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN ASAHI	OMIM	173	cd00087	NULL
2266	70906437	Disease	p.Met310Thr	134850.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN ASAHI	OMIM	150	pfam00147	NULL
2266	70906437	Disease	p.Met310Thr	134850.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN ASAHI	OMIM	174	smart00186	NULL
2266	20178280	Disease	p.Gln329Arg	134850.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN NAGOYA 1	OMIM	192	cd00087	70906439,NP_068656
2266	20178280	Disease	p.Gln329Arg	134850.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN NAGOYA 1	OMIM	169	pfam00147	70906439,NP_068656
2266	20178280	Disease	p.Gln329Arg	134850.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN NAGOYA 1	OMIM	210	smart00186	70906439,NP_068656
2266	70906437	Disease	p.Gln329Arg	134850.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN NAGOYA 1	OMIM	192	cd00087	NULL
2266	70906437	Disease	p.Gln329Arg	134850.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN NAGOYA 1	OMIM	169	pfam00147	NULL
2266	70906437	Disease	p.Gln329Arg	134850.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN NAGOYA 1	OMIM	210	smart00186	NULL
2266	20178280	Disease	p.Asp330Tyr	134850.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN KYOTO 3	OMIM	193	cd00087	70906439,NP_068656
2266	20178280	Disease	p.Asp330Tyr	134850.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN KYOTO 3	OMIM	170	pfam00147	70906439,NP_068656
2266	20178280	Disease	p.Asp330Tyr	134850.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN KYOTO 3	OMIM	211	smart00186	70906439,NP_068656
2266	70906437	Disease	p.Asp330Tyr	134850.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN KYOTO 3	OMIM	193	cd00087	NULL
2266	70906437	Disease	p.Asp330Tyr	134850.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN KYOTO 3	OMIM	170	pfam00147	NULL
2266	70906437	Disease	p.Asp330Tyr	134850.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN KYOTO 3	OMIM	211	smart00186	NULL
2266	20178280	Disease	p.Asp330Val	134850.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN MILANO 1||THROMBOPHILIA, DYSFIBRINOGENEMIC, FIBRINOGEN ALES	OMIM	193	cd00087	70906439,NP_068656
2266	20178280	Disease	p.Asp330Val	134850.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN MILANO 1||THROMBOPHILIA, DYSFIBRINOGENEMIC, FIBRINOGEN ALES	OMIM	170	pfam00147	70906439,NP_068656
2266	20178280	Disease	p.Asp330Val	134850.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN MILANO 1||THROMBOPHILIA, DYSFIBRINOGENEMIC, FIBRINOGEN ALES	OMIM	211	smart00186	70906439,NP_068656
2266	70906437	Disease	p.Asp330Val	134850.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN MILANO 1||THROMBOPHILIA, DYSFIBRINOGENEMIC, FIBRINOGEN ALES	OMIM	193	cd00087	NULL
2266	70906437	Disease	p.Asp330Val	134850.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN MILANO 1||THROMBOPHILIA, DYSFIBRINOGENEMIC, FIBRINOGEN ALES	OMIM	170	pfam00147	NULL
2266	70906437	Disease	p.Asp330Val	134850.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN MILANO 1||THROMBOPHILIA, DYSFIBRINOGENEMIC, FIBRINOGEN ALES	OMIM	211	smart00186	NULL
2266	20178280	Disease	p.Arg375Gly	134850.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN OSAKA 5	OMIM	255	cd00087	70906439,NP_068656
2266	20178280	Disease	p.Arg375Gly	134850.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN OSAKA 5	OMIM	223	pfam00147	70906439,NP_068656
2266	20178280	Disease	p.Arg375Gly	134850.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN OSAKA 5	OMIM	281	smart00186	70906439,NP_068656
2266	70906437	Disease	p.Arg375Gly	134850.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN OSAKA 5	OMIM	255	cd00087	NULL
2266	70906437	Disease	p.Arg375Gly	134850.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN OSAKA 5	OMIM	223	pfam00147	NULL
2266	70906437	Disease	p.Arg375Gly	134850.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN OSAKA 5	OMIM	281	smart00186	NULL
2266	20178280	Disease	p.Asp364His	134850.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN MATSUMOTO 1	OMIM	244	cd00087	70906439,NP_068656
2266	20178280	Disease	p.Asp364His	134850.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN MATSUMOTO 1	OMIM	212	pfam00147	70906439,NP_068656
2266	20178280	Disease	p.Asp364His	134850.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN MATSUMOTO 1	OMIM	267	smart00186	70906439,NP_068656
2266	70906437	Disease	p.Asp364His	134850.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN MATSUMOTO 1	OMIM	244	cd00087	NULL
2266	70906437	Disease	p.Asp364His	134850.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN MATSUMOTO 1	OMIM	212	pfam00147	NULL
2266	70906437	Disease	p.Asp364His	134850.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN MATSUMOTO 1	OMIM	267	smart00186	NULL
2266	20178280	Disease	p.Arg318Gly	134850.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN GIESSEN 4	OMIM	181	cd00087	70906439,NP_068656
2266	20178280	Disease	p.Arg318Gly	134850.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN GIESSEN 4	OMIM	158	pfam00147	70906439,NP_068656
2266	20178280	Disease	p.Arg318Gly	134850.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN GIESSEN 4	OMIM	183	smart00186	70906439,NP_068656
2266	70906437	Disease	p.Arg318Gly	134850.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN GIESSEN 4	OMIM	181	cd00087	NULL
2266	70906437	Disease	p.Arg318Gly	134850.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN GIESSEN 4	OMIM	158	pfam00147	NULL
2266	70906437	Disease	p.Arg318Gly	134850.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN GIESSEN 4	OMIM	183	smart00186	NULL
2266	20178280	Disease	p.Gly165Arg	134850.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN MILANO XII, DIGENIC	OMIM	143	pfam08702	70906439,NP_068656
2266	70906437	Disease	p.Gly165Arg	134850.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN MILANO XII, DIGENIC	OMIM	143	pfam08702	NULL
2266	20178280	Disease	p.Gly309Asp	134850.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN HILLSBOROUGH	OMIM	172	cd00087	70906439,NP_068656
2266	20178280	Disease	p.Gly309Asp	134850.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN HILLSBOROUGH	OMIM	149	pfam00147	70906439,NP_068656
2266	20178280	Disease	p.Gly309Asp	134850.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN HILLSBOROUGH	OMIM	173	smart00186	70906439,NP_068656
2266	70906437	Disease	p.Gly309Asp	134850.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN HILLSBOROUGH	OMIM	172	cd00087	NULL
2266	70906437	Disease	p.Gly309Asp	134850.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN HILLSBOROUGH	OMIM	149	pfam00147	NULL
2266	70906437	Disease	p.Gly309Asp	134850.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134850	FIBRINOGEN HILLSBOROUGH	OMIM	173	smart00186	NULL
2244	296080754	Disease	p.Arg14Cys	134830.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	FIBRINOGEN CHRISTCHURCH 2||FIBRINOGEN SEATTLE 1, FIBRINOGEN IJmuiden	OMIM	No Domain	N/A	NULL
2244	399492	Disease	p.Arg14Cys	134830.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	FIBRINOGEN CHRISTCHURCH 2||FIBRINOGEN SEATTLE 1, FIBRINOGEN IJmuiden	OMIM	No Domain	N/A	70906435,NP_005132
2244	296080754	Disease	p.Ala335Thr	134830.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	FIBRINOGEN PONTOISE 2	OMIM	195	smart00186	NULL
2244	296080754	Disease	p.Ala335Thr	134830.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	FIBRINOGEN PONTOISE 2	OMIM	167	pfam00147	NULL
2244	296080754	Disease	p.Ala335Thr	134830.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	FIBRINOGEN PONTOISE 2	OMIM	190	cd00087	NULL
2244	399492	Disease	p.Ala335Thr	134830.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	FIBRINOGEN PONTOISE 2	OMIM	115	smart00186	70906435,NP_005132
2244	399492	Disease	p.Ala335Thr	134830.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	FIBRINOGEN PONTOISE 2	OMIM	105	pfam00147	70906435,NP_005132
2244	399492	Disease	p.Ala335Thr	134830.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	FIBRINOGEN PONTOISE 2	OMIM	113	cd00087	70906435,NP_005132
2244	296080754	Disease	p.Arg448Lys	134830.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	FIBRINOGEN BALTIMORE 2	OMIM	No Domain	N/A	NULL
2244	399492	Disease	p.Arg448Lys	134830.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	FIBRINOGEN BALTIMORE 2	OMIM	282	smart00186	70906435,NP_005132
2244	399492	Disease	p.Arg448Lys	134830.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	FIBRINOGEN BALTIMORE 2	OMIM	224	pfam00147	70906435,NP_005132
2244	399492	Disease	p.Arg448Lys	134830.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	FIBRINOGEN BALTIMORE 2	OMIM	256	cd00087	70906435,NP_005132
2244	296080754	Disease	p.Gly15Cys	134830.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	FIBRINOGEN ISE	OMIM	No Domain	N/A	NULL
2244	399492	Disease	p.Gly15Cys	134830.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	FIBRINOGEN ISE	OMIM	No Domain	N/A	70906435,NP_005132
2244	296080754	Disease	p.Arg44Cys	134830.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	FIBRINOGEN NIJMEGEN	OMIM	No Domain	N/A	NULL
2244	399492	Disease	p.Arg44Cys	134830.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	FIBRINOGEN NIJMEGEN	OMIM	No Domain	N/A	70906435,NP_005132
2244	296080754	Disease	p.Ala68Thr	134830.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	FIBRINOGEN NAPLES||FIBRINOGEN MILANO 2, THROMBOPHILIA, DYSFIBRINOGENEMIC	OMIM	39	pfam08702	NULL
2244	399492	Disease	p.Ala68Thr	134830.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	FIBRINOGEN NAPLES||FIBRINOGEN MILANO 2, THROMBOPHILIA, DYSFIBRINOGENEMIC	OMIM	No Domain	N/A	70906435,NP_005132
2244	296080754	Disease	p.Leu353Arg	134830.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	AFIBRINOGENEMIA, CONGENITAL	OMIM	232	smart00186	NULL
2244	296080754	Disease	p.Leu353Arg	134830.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	AFIBRINOGENEMIA, CONGENITAL	OMIM	185	pfam00147	NULL
2244	296080754	Disease	p.Leu353Arg	134830.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	AFIBRINOGENEMIA, CONGENITAL	OMIM	208	cd00087	NULL
2244	399492	Disease	p.Leu353Arg	134830.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	AFIBRINOGENEMIA, CONGENITAL	OMIM	137	smart00186	70906435,NP_005132
2244	399492	Disease	p.Leu353Arg	134830.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	AFIBRINOGENEMIA, CONGENITAL	OMIM	125	pfam00147	70906435,NP_005132
2244	399492	Disease	p.Leu353Arg	134830.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	AFIBRINOGENEMIA, CONGENITAL	OMIM	143	cd00087	70906435,NP_005132
2244	296080754	Disease	p.Gly400Asp	134830.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	AFIBRINOGENEMIA, CONGENITAL	OMIM	294	smart00186	NULL
2244	296080754	Disease	p.Gly400Asp	134830.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	AFIBRINOGENEMIA, CONGENITAL	OMIM	235	pfam00147	NULL
2244	296080754	Disease	p.Gly400Asp	134830.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	AFIBRINOGENEMIA, CONGENITAL	OMIM	271	cd00087	NULL
2244	399492	Disease	p.Gly400Asp	134830.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	AFIBRINOGENEMIA, CONGENITAL	OMIM	220	smart00186	70906435,NP_005132
2244	399492	Disease	p.Gly400Asp	134830.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	AFIBRINOGENEMIA, CONGENITAL	OMIM	173	pfam00147	70906435,NP_005132
2244	399492	Disease	p.Gly400Asp	134830.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	AFIBRINOGENEMIA, CONGENITAL	OMIM	196	cd00087	70906435,NP_005132
2244	296080754	Disease	p.Arg166Cys	134830.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	FIBRINOGEN LONGMONT	OMIM	141	pfam08702	NULL
2244	399492	Disease	p.Arg166Cys	134830.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	FIBRINOGEN LONGMONT	OMIM	78	pfam08702	70906435,NP_005132
2244	296080754	Disease	p.Leu172Gln	134830.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	HYPOFIBRINOGENEMIA, CONGENITAL	OMIM	147	pfam08702	NULL
2244	399492	Disease	p.Leu172Gln	134830.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134830	HYPOFIBRINOGENEMIA, CONGENITAL	OMIM	84	pfam08702	70906435,NP_005132
2243	11761629	Disease	p.Asp7Asn	134820.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN LILLE 1	OMIM	No Domain	N/A	NULL
2243	1706799	Disease	p.Asp7Asn	134820.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN LILLE 1	OMIM	No Domain	N/A	4503689,NP_000499
2243	11761629	Disease	p.Gly12Val	134820.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN ROUEN 1	OMIM	No Domain	N/A	NULL
2243	1706799	Disease	p.Gly12Val	134820.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN ROUEN 1	OMIM	No Domain	N/A	4503689,NP_000499
2243	11761629	Disease	p.Arg16Cys	134820.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN BERGAMO 1||FIBRINOGEN HERSHEY 2, FIBRINOGEN HOMBURG 2, FIBRINOGEN HOMBURG 3, FIBRINOGEN KAWAGUCHI 1, FIBRINOGEN LEOGAN, FIBRINOGEN METZ 1, FIBRINOGEN NEW ALBANY, FIBRINOGEN OSAKA 1, FIBRINOGEN SCHWARZACH 1, FIBRINOGEN STONY BROOK 1, FIBRINOGEN ZURICH 1, FIBRINOGEN TORINO 1, FIBRINOGEN LEDYARD, FIBRINOGEN HERSHEY 3, FIBRINOGEN MILANO XII, DIGENIC	OMIM	No Domain	N/A	NULL
2243	1706799	Disease	p.Arg16Cys	134820.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN BERGAMO 1||FIBRINOGEN HERSHEY 2, FIBRINOGEN HOMBURG 2, FIBRINOGEN HOMBURG 3, FIBRINOGEN KAWAGUCHI 1, FIBRINOGEN LEOGAN, FIBRINOGEN METZ 1, FIBRINOGEN NEW ALBANY, FIBRINOGEN OSAKA 1, FIBRINOGEN SCHWARZACH 1, FIBRINOGEN STONY BROOK 1, FIBRINOGEN ZURICH 1, FIBRINOGEN TORINO 1, FIBRINOGEN LEDYARD, FIBRINOGEN HERSHEY 3, FIBRINOGEN MILANO XII, DIGENIC	OMIM	No Domain	N/A	4503689,NP_000499
2243	11761629	Disease	p.Arg16His	134820.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN AMIENS 1||FIBRINOGEN AMIENS 2, FIBRINOGEN BERGAMO 3, FIBRINOGEN BERN 2, FIBRINOGEN BICETRE 1, FIBRINOGEN BIRMINGHAM 1, FIBRINOGEN CHAPEL HILL 2, FIBRINOGEN CLERMONT-FERRAND 1, FIBRINOGEN GIESSEN 1, FIBRINOGEN LEITCHFIELD, FIBRINOGEN LONG BEACH 1, FIBRINOGEN LOUISVILLE 1, FIBRINOGEN MANCHESTER 1, FIBRINOGEN PARIS 6, FIBRINOGEN PETOSKEY 1, FIBRINOGEN SEATTLE 2, FIBRINOGEN SHEFFIELD 2, FIBRINOGEN SYDNEY 1, FIBRINOGEN SYDNEY 2, FIBRINOGEN WHITE MARSH 1	OMIM	No Domain	N/A	NULL
2243	1706799	Disease	p.Arg16His	134820.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN AMIENS 1||FIBRINOGEN AMIENS 2, FIBRINOGEN BERGAMO 3, FIBRINOGEN BERN 2, FIBRINOGEN BICETRE 1, FIBRINOGEN BIRMINGHAM 1, FIBRINOGEN CHAPEL HILL 2, FIBRINOGEN CLERMONT-FERRAND 1, FIBRINOGEN GIESSEN 1, FIBRINOGEN LEITCHFIELD, FIBRINOGEN LONG BEACH 1, FIBRINOGEN LOUISVILLE 1, FIBRINOGEN MANCHESTER 1, FIBRINOGEN PARIS 6, FIBRINOGEN PETOSKEY 1, FIBRINOGEN SEATTLE 2, FIBRINOGEN SHEFFIELD 2, FIBRINOGEN SYDNEY 1, FIBRINOGEN SYDNEY 2, FIBRINOGEN WHITE MARSH 1	OMIM	No Domain	N/A	4503689,NP_000499
2243	11761629	Disease	p.Arg19Asn	134820.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN MUNICH 1	OMIM	No Domain	N/A	NULL
2243	1706799	Disease	p.Arg19Asn	134820.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN MUNICH 1	OMIM	No Domain	N/A	4503689,NP_000499
2243	11761629	Disease	p.Arg19Ser	134820.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN DETROIT 1	OMIM	No Domain	N/A	NULL
2243	1706799	Disease	p.Arg19Ser	134820.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN DETROIT 1	OMIM	No Domain	N/A	4503689,NP_000499
2243	11761629	Disease	p.Arg19Gly	134820.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN AARHUS 1	OMIM	No Domain	N/A	NULL
2243	1706799	Disease	p.Arg19Gly	134820.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN AARHUS 1	OMIM	No Domain	N/A	4503689,NP_000499
2243	11761629	Disease	p.Pro18Leu	134820.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN KYOTO 2	OMIM	No Domain	N/A	NULL
2243	1706799	Disease	p.Pro18Leu	134820.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN KYOTO 2	OMIM	No Domain	N/A	4503689,NP_000499
2243	11761629	Disease	p.Ser434Asn	134820.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN CARACAS-2	OMIM	No Domain	N/A	NULL
2243	1706799	Disease	p.Ser434Asn	134820.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN CARACAS-2	OMIM	No Domain	N/A	4503689,NP_000499
2243	11761629	Disease	p.Arg141Ser	134820.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN LIMA	OMIM	100	pfam08702	NULL
2243	1706799	Disease	p.Arg141Ser	134820.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN LIMA	OMIM	100	pfam08702	4503689,NP_000499
2243	11761629	Disease	p.Arg554Leu	134820.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	AMYLOIDOSIS, FAMILIAL VISCERAL	OMIM	No Domain	N/A	NULL
2243	1706799	Disease	p.Arg554Leu	134820.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	AMYLOIDOSIS, FAMILIAL VISCERAL	OMIM	No Domain	N/A	4503689,NP_000499
2243	11761629	Disease	p.Glu526Val	134820.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	AMYLOIDOSIS, FAMILIAL VISCERAL	OMIM	No Domain	N/A	NULL
2243	1706799	Disease	p.Glu526Val	134820.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	AMYLOIDOSIS, FAMILIAL VISCERAL	OMIM	No Domain	N/A	4503689,NP_000499
2243	11761629	Disease	p.Arg554Cys	134820.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN DUSART||FIBRINOGEN PARIS 5	OMIM	No Domain	N/A	NULL
2243	1706799	Disease	p.Arg554Cys	134820.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN DUSART||FIBRINOGEN PARIS 5	OMIM	No Domain	N/A	4503689,NP_000499
2243	11761629	Disease	p.Val20Asp	134820.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN CANTERBURY	OMIM	No Domain	N/A	NULL
2243	1706799	Disease	p.Val20Asp	134820.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	FIBRINOGEN CANTERBURY	OMIM	No Domain	N/A	4503689,NP_000499
2243	11761629	Disease	p.Thr312Ala	134820.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
2243	1706799	Disease	p.Thr312Ala	134820.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134820	VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	4503689,NP_000499
2200	281485550	Disease	p.Arg1137Pro	134797.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, SEVERE CLASSIC	OMIM	49	smart00181	NULL
2200	281485550	Disease	p.Arg1137Pro	134797.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, SEVERE CLASSIC	OMIM	50	cd00053	NULL
2200	281485550	Disease	p.Arg1137Pro	134797.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, SEVERE CLASSIC	OMIM	47	smart00179	NULL
2200	281485550	Disease	p.Arg1137Pro	134797.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, SEVERE CLASSIC	OMIM	52	cd00054	NULL
2200	281485550	Disease	p.Arg1137Pro	134797.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, SEVERE CLASSIC	OMIM	31	pfam07645	NULL
2200	281485550	Disease	p.Cys2307Ser	134797.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, MILD VARIABLE	OMIM	28	cd00053	NULL
2200	281485550	Disease	p.Cys2307Ser	134797.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, MILD VARIABLE	OMIM	27	smart00181	NULL
2200	281485550	Disease	p.Cys2307Ser	134797.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, MILD VARIABLE	OMIM	23	pfam07645	NULL
2200	281485550	Disease	p.Cys2307Ser	134797.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, MILD VARIABLE	OMIM	34	smart00179	NULL
2200	281485550	Disease	p.Cys2307Ser	134797.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, MILD VARIABLE	OMIM	36	cd00054	NULL
2200	281485550	Disease	p.Cys1249Ser	134797.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	14	pfam07645	NULL
2200	281485550	Disease	p.Cys1249Ser	134797.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	25	smart00179	NULL
2200	281485550	Disease	p.Cys1249Ser	134797.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	25	cd00054	NULL
2200	281485550	Disease	p.Cys1249Ser	134797.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	17	smart00181	NULL
2200	281485550	Disease	p.Cys1249Ser	134797.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	19	cd00053	NULL
2200	281485550	Disease	p.Cys1249Ser	134797.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	10	pfam00008	NULL
2200	281485550	Disease	p.Cys1663Arg	134797.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	23	pfam07645	NULL
2200	281485550	Disease	p.Cys1663Arg	134797.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	36	cd00054	NULL
2200	281485550	Disease	p.Cys1663Arg	134797.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	34	smart00179	NULL
2200	281485550	Disease	p.Cys1663Arg	134797.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	28	cd00053	NULL
2200	281485550	Disease	p.Cys1663Arg	134797.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	27	smart00181	NULL
2200	281485550	Disease	p.Cys2221Ser	134797.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	34	smart00179	NULL
2200	281485550	Disease	p.Cys2221Ser	134797.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	36	cd00054	NULL
2200	281485550	Disease	p.Cys2221Ser	134797.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	23	pfam07645	NULL
2200	281485550	Disease	p.Cys2221Ser	134797.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	27	smart00181	NULL
2200	281485550	Disease	p.Cys2221Ser	134797.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	28	cd00053	NULL
2200	281485550	Disease	p.Asn2144Ser	134797.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	30	cd00053	NULL
2200	281485550	Disease	p.Asn2144Ser	134797.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	29	smart00181	NULL
2200	281485550	Disease	p.Asn2144Ser	134797.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	25	pfam07645	NULL
2200	281485550	Disease	p.Asn2144Ser	134797.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	36	smart00179	NULL
2200	281485550	Disease	p.Asn2144Ser	134797.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	38	cd00054	NULL
2200	281485550	Disease	p.Asn548Ile	134797.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	30	cd00053	NULL
2200	281485550	Disease	p.Asn548Ile	134797.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	29	smart00181	NULL
2200	281485550	Disease	p.Asn548Ile	134797.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	20	pfam00008	NULL
2200	281485550	Disease	p.Asn548Ile	134797.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	38	cd00054	NULL
2200	281485550	Disease	p.Asn548Ile	134797.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	36	smart00179	NULL
2200	281485550	Disease	p.Asn548Ile	134797.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	25	pfam07645	NULL
2200	281485550	Disease	p.Asp723Ala	134797.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	No Domain	N/A	NULL
2200	281485550	Disease	p.Glu2447Lys	134797.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	ECTOPIA LENTIS, ISOLATED, 1	OMIM	4	pfam07645	NULL
2200	281485550	Disease	p.Glu2447Lys	134797.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	ECTOPIA LENTIS, ISOLATED, 1	OMIM	4	smart00179	NULL
2200	281485550	Disease	p.Glu2447Lys	134797.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	ECTOPIA LENTIS, ISOLATED, 1	OMIM	4	cd00054	NULL
2200	281485550	Disease	p.Cys1074Arg	134797.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	5	pfam07645	NULL
2200	281485550	Disease	p.Cys1074Arg	134797.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	5	cd00054	NULL
2200	281485550	Disease	p.Cys1074Arg	134797.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	5	smart00179	NULL
2200	281485550	Disease	p.Cys1074Arg	134797.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	2	cd00053	NULL
2200	281485550	Disease	p.Cys1074Arg	134797.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	2	smart00181	NULL
2200	281485550	Disease	p.Arg122Cys	134797.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, ATYPICAL	OMIM	No Domain	N/A	NULL
2200	281485550	Disease	p.Gly1127Ser	134797.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, MILD	OMIM	20	smart00181	NULL
2200	281485550	Disease	p.Gly1127Ser	134797.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, MILD	OMIM	26	cd00053	NULL
2200	281485550	Disease	p.Gly1127Ser	134797.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, MILD	OMIM	28	smart00179	NULL
2200	281485550	Disease	p.Gly1127Ser	134797.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, MILD	OMIM	34	cd00054	NULL
2200	281485550	Disease	p.Gly1127Ser	134797.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, MILD	OMIM	21	pfam07645	NULL
2200	281485550	Disease	p.Cys1223Tyr	134797.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME||SHPRINTZEN-GOLDBERG SYNDROME	OMIM	57	smart00181	NULL
2200	281485550	Disease	p.Cys1223Tyr	134797.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME||SHPRINTZEN-GOLDBERG SYNDROME	OMIM	58	cd00053	NULL
2200	281485550	Disease	p.Cys1223Tyr	134797.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME||SHPRINTZEN-GOLDBERG SYNDROME	OMIM	55	smart00179	NULL
2200	281485550	Disease	p.Cys1223Tyr	134797.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME||SHPRINTZEN-GOLDBERG SYNDROME	OMIM	60	cd00054	NULL
2200	281485550	Disease	p.Cys1223Tyr	134797.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME||SHPRINTZEN-GOLDBERG SYNDROME	OMIM	38	pfam07645	NULL
2200	281485550	Disease	p.Arg2726Trp	134797.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	No Domain	N/A	NULL
79742	193804856	Disease	p.Arg2726Trp	134797.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Arg2726Trp	134797.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
2200	281485550	Disease	p.Cys1117Tyr	134797.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	2	smart00181	NULL
2200	281485550	Disease	p.Cys1117Tyr	134797.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	2	cd00053	NULL
2200	281485550	Disease	p.Cys1117Tyr	134797.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	5	smart00179	NULL
2200	281485550	Disease	p.Cys1117Tyr	134797.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	5	cd00054	NULL
2200	281485550	Disease	p.Cys1117Tyr	134797.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	5	pfam07645	NULL
2200	281485550	Disease	p.Cys1242Tyr	134797.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	5	pfam07645	NULL
2200	281485550	Disease	p.Cys1242Tyr	134797.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	5	smart00179	NULL
2200	281485550	Disease	p.Cys1242Tyr	134797.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	5	cd00054	NULL
2200	281485550	Disease	p.Cys1242Tyr	134797.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	2	smart00181	NULL
2200	281485550	Disease	p.Cys1242Tyr	134797.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	2	cd00053	NULL
2200	281485550	Disease	p.Lys1043Arg	134797.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	26	smart00181	NULL
2200	281485550	Disease	p.Lys1043Arg	134797.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	27	cd00053	NULL
2200	281485550	Disease	p.Lys1043Arg	134797.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	17	pfam00008	NULL
2200	281485550	Disease	p.Lys1043Arg	134797.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	33	smart00179	NULL
2200	281485550	Disease	p.Lys1043Arg	134797.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	35	cd00054	NULL
2200	281485550	Disease	p.Lys1043Arg	134797.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	22	pfam07645	NULL
2200	281485550	Disease	p.Asn1131Tyr	134797.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	29	smart00181	NULL
2200	281485550	Disease	p.Asn1131Tyr	134797.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	30	cd00053	NULL
2200	281485550	Disease	p.Asn1131Tyr	134797.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	36	smart00179	NULL
2200	281485550	Disease	p.Asn1131Tyr	134797.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	38	cd00054	NULL
2200	281485550	Disease	p.Asn1131Tyr	134797.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	25	pfam07645	NULL
2200	281485550	Disease	p.Ile2118Ile	134797.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	No Domain	N/A	NULL
2200	281485550	Disease	p.Cys1265Arg	134797.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, CLASSIC	OMIM	38	pfam07645	NULL
2200	281485550	Disease	p.Cys1265Arg	134797.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, CLASSIC	OMIM	55	smart00179	NULL
2200	281485550	Disease	p.Cys1265Arg	134797.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, CLASSIC	OMIM	60	cd00054	NULL
2200	281485550	Disease	p.Cys1265Arg	134797.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, CLASSIC	OMIM	57	smart00181	NULL
2200	281485550	Disease	p.Cys1265Arg	134797.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, CLASSIC	OMIM	58	cd00053	NULL
2200	281485550	Disease	p.Cys1265Arg	134797.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, CLASSIC	OMIM	37	pfam00008	NULL
2200	281485550	Disease	p.Arg1170His	134797.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, SUBDIAGNOSTIC VARIANT OF	OMIM	26	smart00181	NULL
2200	281485550	Disease	p.Arg1170His	134797.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, SUBDIAGNOSTIC VARIANT OF	OMIM	27	cd00053	NULL
2200	281485550	Disease	p.Arg1170His	134797.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, SUBDIAGNOSTIC VARIANT OF	OMIM	22	pfam07645	NULL
2200	281485550	Disease	p.Arg1170His	134797.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, SUBDIAGNOSTIC VARIANT OF	OMIM	33	smart00179	NULL
2200	281485550	Disease	p.Arg1170His	134797.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, SUBDIAGNOSTIC VARIANT OF	OMIM	35	cd00054	NULL
2200	281485550	Disease	p.Arg1170His	134797.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, SUBDIAGNOSTIC VARIANT OF	OMIM	17	pfam00008	NULL
2200	281485550	Disease	p.Gly985Glu	134797.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, ATYPICAL	OMIM	24	pfam00683	NULL
2200	281485550	Disease	p.Gly1013Arg	134797.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	No Domain	N/A	NULL
2200	281485550	Disease	p.Glu1073Lys	134797.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	4	pfam07645	NULL
2200	281485550	Disease	p.Glu1073Lys	134797.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	4	cd00054	NULL
2200	281485550	Disease	p.Glu1073Lys	134797.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	4	smart00179	NULL
2200	281485550	Disease	p.Tyr754Cys	134797.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	42	pfam07645	NULL
2200	281485550	Disease	p.Tyr754Cys	134797.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	62	smart00179	NULL
2200	281485550	Disease	p.Tyr754Cys	134797.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	69	cd00054	NULL
2200	281485550	Disease	p.Tyr754Cys	134797.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	66	smart00181	NULL
2200	281485550	Disease	p.Tyr754Cys	134797.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	65	cd00053	NULL
2200	281485550	Disease	p.Tyr754Cys	134797.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	41	pfam00008	NULL
2200	281485550	Disease	p.Arg240Cys	134797.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME||ECTOPIA LENTIS, ISOLATED, 1	OMIM	No Domain	N/A	NULL
2200	281485550	Disease	p.Cys1032Tyr	134797.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	2	smart00181	NULL
2200	281485550	Disease	p.Cys1032Tyr	134797.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	2	cd00053	NULL
2200	281485550	Disease	p.Cys1032Tyr	134797.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	5	smart00179	NULL
2200	281485550	Disease	p.Cys1032Tyr	134797.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	5	cd00054	NULL
2200	281485550	Disease	p.Cys1032Tyr	134797.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	5	pfam07645	NULL
2200	281485550	Disease	p.Cys1129Tyr	134797.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	27	smart00181	NULL
2200	281485550	Disease	p.Cys1129Tyr	134797.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	28	cd00053	NULL
2200	281485550	Disease	p.Cys1129Tyr	134797.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	34	smart00179	NULL
2200	281485550	Disease	p.Cys1129Tyr	134797.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	36	cd00054	NULL
2200	281485550	Disease	p.Cys1129Tyr	134797.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME	OMIM	23	pfam07645	NULL
2200	281485550	Disease	p.Cys1221Tyr	134797.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	SHPRINTZEN-GOLDBERG SYNDROME	OMIM	50	smart00181	NULL
2200	281485550	Disease	p.Cys1221Tyr	134797.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	SHPRINTZEN-GOLDBERG SYNDROME	OMIM	51	cd00053	NULL
2200	281485550	Disease	p.Cys1221Tyr	134797.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	SHPRINTZEN-GOLDBERG SYNDROME	OMIM	48	smart00179	NULL
2200	281485550	Disease	p.Cys1221Tyr	134797.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	SHPRINTZEN-GOLDBERG SYNDROME	OMIM	53	cd00054	NULL
2200	281485550	Disease	p.Cys1221Tyr	134797.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	SHPRINTZEN-GOLDBERG SYNDROME	OMIM	32	pfam07645	NULL
2200	281485550	Disease	p.Cys1086Tyr	134797.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	23	pfam07645	NULL
2200	281485550	Disease	p.Cys1086Tyr	134797.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	36	cd00054	NULL
2200	281485550	Disease	p.Cys1086Tyr	134797.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	34	smart00179	NULL
2200	281485550	Disease	p.Cys1086Tyr	134797.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	28	cd00053	NULL
2200	281485550	Disease	p.Cys1086Tyr	134797.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, NEONATAL	OMIM	27	smart00181	NULL
2200	281485550	Disease	p.Arg485Cys	134797.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, AUTOSOMAL RECESSIVE	OMIM	80	smart00179	NULL
2200	281485550	Disease	p.Arg485Cys	134797.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, AUTOSOMAL RECESSIVE	OMIM	79	smart00181	NULL
2200	281485550	Disease	p.Arg485Cys	134797.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, AUTOSOMAL RECESSIVE	OMIM	82	cd00053	NULL
2200	281485550	Disease	p.Arg485Cys	134797.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	MARFAN SYNDROME, AUTOSOMAL RECESSIVE	OMIM	86	cd00054	NULL
2200	281485550	Disease	p.Cys1564Ser	134797.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	STIFF SKIN SYNDROME	OMIM	21	pfam00683	NULL
2200	281485550	Disease	p.Cys1577Gly	134797.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	STIFF SKIN SYNDROME	OMIM	41	pfam00683	NULL
2200	281485550	Disease	p.Gly1594Asn	134797.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134797	STIFF SKIN SYNDROME	OMIM	No Domain	N/A	NULL
2512	120523	Disease	p.Ala96Thr	134790.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134790	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3	OMIM	90	COG1528	20149498,NP_000137
2512	120523	Disease	p.Ala96Thr	134790.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134790	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3	OMIM	135	cd01056	20149498,NP_000137
2512	120523	Disease	p.Ala96Thr	134790.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134790	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3	OMIM	87	cd00904	20149498,NP_000137
2512	120523	Disease	p.Ala96Thr	134790.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134790	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3	OMIM	89	cd01055	20149498,NP_000137
2512	120523	Disease	p.Ala96Thr	134790.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134790	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3	OMIM	203	pfam00210	20149498,NP_000137
2169	194097325	Disease	p.Ala54Thr	134640.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134640	FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF	OMIM	71	pfam00061	NULL
355	23510423	Disease	p.Thr225Pro	134637.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	No Domain	N/A	NULL
355	23510421	Disease	p.Thr225Pro	134637.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	26	smart00005	NULL
355	23510421	Disease	p.Thr225Pro	134637.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	18	pfam00531	NULL
355	23510421	Disease	p.Thr225Pro	134637.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	17	cd08306	NULL
355	23510421	Disease	p.Thr225Pro	134637.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	25	cd08316	NULL
355	23510421	Disease	p.Thr225Pro	134637.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	26	cd01670	NULL
355	23510421	Disease	p.Thr225Pro	134637.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	15	cd08784	NULL
355	23510421	Disease	p.Thr225Pro	134637.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	15	cd08313	NULL
355	119833	Disease	p.Thr225Pro	134637.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	3	cd08316	4507583,NP_000034
355	23510423	Disease	p.Arg105Trp	134637.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE	OMIM	26	pfam00020	NULL
355	23510423	Disease	p.Arg105Trp	134637.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE	OMIM	23	smart00208	NULL
355	23510423	Disease	p.Arg105Trp	134637.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE	OMIM	68	cd00185	NULL
355	23510421	Disease	p.Arg105Trp	134637.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE	OMIM	26	pfam00020	NULL
355	23510421	Disease	p.Arg105Trp	134637.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE	OMIM	23	smart00208	NULL
355	23510421	Disease	p.Arg105Trp	134637.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE	OMIM	68	cd00185	NULL
355	119833	Disease	p.Arg105Trp	134637.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE	OMIM	26	pfam00020	4507583,NP_000034
355	119833	Disease	p.Arg105Trp	134637.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE	OMIM	23	smart00208	4507583,NP_000034
355	119833	Disease	p.Arg105Trp	134637.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE	OMIM	68	cd00185	4507583,NP_000034
355	23510423	Disease	p.Tyr216Cys	134637.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
355	23510421	Disease	p.Tyr216Cys	134637.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE	OMIM	13	smart00005	NULL
355	23510421	Disease	p.Tyr216Cys	134637.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE	OMIM	7	pfam00531	NULL
355	23510421	Disease	p.Tyr216Cys	134637.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE	OMIM	15	cd08316	NULL
355	23510421	Disease	p.Tyr216Cys	134637.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE	OMIM	6	cd01670	NULL
355	23510421	Disease	p.Tyr216Cys	134637.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE	OMIM	6	cd08784	NULL
355	23510421	Disease	p.Tyr216Cys	134637.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE	OMIM	3	cd08313	NULL
355	119833	Disease	p.Tyr216Cys	134637.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	4507583,NP_000034
355	23510423	Disease	p.Asp244Val	134637.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	No Domain	N/A	NULL
355	23510421	Disease	p.Asp244Val	134637.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	73	smart00005	NULL
355	23510421	Disease	p.Asp244Val	134637.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	43	pfam00531	NULL
355	23510421	Disease	p.Asp244Val	134637.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	36	cd08306	NULL
355	23510421	Disease	p.Asp244Val	134637.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	45	cd08316	NULL
355	23510421	Disease	p.Asp244Val	134637.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	52	cd01670	NULL
355	23510421	Disease	p.Asp244Val	134637.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	34	cd08784	NULL
355	23510421	Disease	p.Asp244Val	134637.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	34	cd08313	NULL
355	119833	Disease	p.Asp244Val	134637.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	23	smart00005	4507583,NP_000034
355	119833	Disease	p.Asp244Val	134637.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	6	cd08306	4507583,NP_000034
355	119833	Disease	p.Asp244Val	134637.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	16	pfam00531	4507583,NP_000034
355	119833	Disease	p.Asp244Val	134637.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	24	cd01670	4507583,NP_000034
355	119833	Disease	p.Asp244Val	134637.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	13	cd08784	4507583,NP_000034
355	119833	Disease	p.Asp244Val	134637.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	13	cd08313	4507583,NP_000034
355	119833	Disease	p.Asp244Val	134637.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	23	cd08316	4507583,NP_000034
355	23510423	Disease	p.Arg234Pro	134637.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	No Domain	N/A	NULL
355	23510421	Disease	p.Arg234Pro	134637.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	63	smart00005	NULL
355	23510421	Disease	p.Arg234Pro	134637.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	30	pfam00531	NULL
355	23510421	Disease	p.Arg234Pro	134637.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	26	cd08306	NULL
355	23510421	Disease	p.Arg234Pro	134637.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	35	cd08316	NULL
355	23510421	Disease	p.Arg234Pro	134637.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	42	cd01670	NULL
355	23510421	Disease	p.Arg234Pro	134637.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	24	cd08784	NULL
355	23510421	Disease	p.Arg234Pro	134637.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	24	cd08313	NULL
355	119833	Disease	p.Arg234Pro	134637.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	10	smart00005	4507583,NP_000034
355	119833	Disease	p.Arg234Pro	134637.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	4	pfam00531	4507583,NP_000034
355	119833	Disease	p.Arg234Pro	134637.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	3	cd01670	4507583,NP_000034
355	119833	Disease	p.Arg234Pro	134637.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	3	cd08784	4507583,NP_000034
355	119833	Disease	p.Arg234Pro	134637.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	12	cd08316	4507583,NP_000034
355	23510423	Disease	p.Thr254Ile	134637.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	No Domain	N/A	NULL
355	23510421	Disease	p.Thr254Ile	134637.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	123	smart00005	NULL
355	23510421	Disease	p.Thr254Ile	134637.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	54	pfam00531	NULL
355	23510421	Disease	p.Thr254Ile	134637.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	46	cd08306	NULL
355	23510421	Disease	p.Thr254Ile	134637.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	55	cd08316	NULL
355	23510421	Disease	p.Thr254Ile	134637.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	64	cd01670	NULL
355	23510421	Disease	p.Thr254Ile	134637.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	44	cd08784	NULL
355	23510421	Disease	p.Thr254Ile	134637.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	44	cd08313	NULL
355	119833	Disease	p.Thr254Ile	134637.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	57	smart00005	4507583,NP_000034
355	119833	Disease	p.Thr254Ile	134637.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	25	cd08306	4507583,NP_000034
355	119833	Disease	p.Thr254Ile	134637.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	29	pfam00531	4507583,NP_000034
355	119833	Disease	p.Thr254Ile	134637.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	41	cd01670	4507583,NP_000034
355	119833	Disease	p.Thr254Ile	134637.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	23	cd08784	4507583,NP_000034
355	119833	Disease	p.Thr254Ile	134637.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	23	cd08313	4507583,NP_000034
355	119833	Disease	p.Thr254Ile	134637.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	34	cd08316	4507583,NP_000034
355	23510423	Disease	p.Gly231Ala	134637.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	No Domain	N/A	NULL
355	23510421	Disease	p.Gly231Ala	134637.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	55	smart00005	NULL
355	23510421	Disease	p.Gly231Ala	134637.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	27	pfam00531	NULL
355	23510421	Disease	p.Gly231Ala	134637.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	23	cd08306	NULL
355	23510421	Disease	p.Gly231Ala	134637.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	31	cd08316	NULL
355	23510421	Disease	p.Gly231Ala	134637.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	32	cd01670	NULL
355	23510421	Disease	p.Gly231Ala	134637.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	21	cd08784	NULL
355	23510421	Disease	p.Gly231Ala	134637.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	21	cd08313	NULL
355	119833	Disease	p.Gly231Ala	134637.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	7	smart00005	4507583,NP_000034
355	119833	Disease	p.Gly231Ala	134637.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	9	cd08316	4507583,NP_000034
355	23510423	Disease	p.Asp244Tyr	134637.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	No Domain	N/A	NULL
355	23510421	Disease	p.Asp244Tyr	134637.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	73	smart00005	NULL
355	23510421	Disease	p.Asp244Tyr	134637.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	43	pfam00531	NULL
355	23510421	Disease	p.Asp244Tyr	134637.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	36	cd08306	NULL
355	23510421	Disease	p.Asp244Tyr	134637.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	45	cd08316	NULL
355	23510421	Disease	p.Asp244Tyr	134637.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	52	cd01670	NULL
355	23510421	Disease	p.Asp244Tyr	134637.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	34	cd08784	NULL
355	23510421	Disease	p.Asp244Tyr	134637.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	34	cd08313	NULL
355	119833	Disease	p.Asp244Tyr	134637.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	23	smart00005	4507583,NP_000034
355	119833	Disease	p.Asp244Tyr	134637.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	6	cd08306	4507583,NP_000034
355	119833	Disease	p.Asp244Tyr	134637.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	16	pfam00531	4507583,NP_000034
355	119833	Disease	p.Asp244Tyr	134637.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	24	cd01670	4507583,NP_000034
355	119833	Disease	p.Asp244Tyr	134637.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	13	cd08784	4507583,NP_000034
355	119833	Disease	p.Asp244Tyr	134637.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	13	cd08313	4507583,NP_000034
355	119833	Disease	p.Asp244Tyr	134637.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134637	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	OMIM	23	cd08316	4507583,NP_000034
2165	145559473	Disease	p.Cys430Phe	134580.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134580	FACTOR XIII, B SUBUNIT, DEFICIENCY OF	OMIM	50	pfam00084	110611237,NP_001985
2165	145559473	Disease	p.Cys430Phe	134580.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134580	FACTOR XIII, B SUBUNIT, DEFICIENCY OF	OMIM	65	smart00032	110611237,NP_001985
2165	145559473	Disease	p.Cys430Phe	134580.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134580	FACTOR XIII, B SUBUNIT, DEFICIENCY OF	OMIM	56	cd00033	110611237,NP_001985
2165	145559473	Disease	p.His95Arg	134580.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134580	VENOUS THROMBOSIS, SUSCEPTIBILITY TO	OMIM	5	cd00033	110611237,NP_001985
2165	145559473	Disease	p.His95Arg	134580.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134580	VENOUS THROMBOSIS, SUSCEPTIBILITY TO	OMIM	8	pfam00084	110611237,NP_001985
2165	145559473	Disease	p.His95Arg	134580.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134580	VENOUS THROMBOSIS, SUSCEPTIBILITY TO	OMIM	5	smart00032	110611237,NP_001985
2162	119395709	Disease	p.Arg681His	134570.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134570	FACTOR XIII, A SUBUNIT, DEFICIENCY OF	OMIM	61	pfam00927	NULL
2162	119395709	Disease	p.Asn60Lys	134570.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134570	FACTOR XIII, A SUBUNIT, DEFICIENCY OF	OMIM	15	pfam00868	NULL
2162	119395709	Disease	p.Gly501Arg	134570.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134570	FACTOR XIII, A SUBUNIT, DEFICIENCY OF	OMIM	No Domain	N/A	NULL
2162	119395709	Disease	p.Gly562Arg	134570.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134570	FACTOR XIII, A SUBUNIT, DEFICIENCY OF	OMIM	47	pfam00927	NULL
2162	119395709	Disease	p.Val414Phe	134570.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134570	FACTOR XIII, A SUBUNIT, DEFICIENCY OF	OMIM	No Domain	N/A	NULL
2162	119395709	Disease	p.Arg260His	134570.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134570	FACTOR XIII, A SUBUNIT, DEFICIENCY OF	OMIM	2	pfam01841	NULL
2162	119395709	Disease	p.Val34Leu	134570.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134570	MYOCARDIAL INFARCTION, PROTECTION AGAINST||VENOUS THROMBOSIS, PROTECTION AGAINST	OMIM	No Domain	N/A	NULL
2162	119395709	Disease	p.Arg326Gln	134570.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134570	FACTOR XIII, A SUBUNIT, DEFICIENCY OF	OMIM	100	pfam01841	NULL
2162	119395709	Disease	p.Arg326Gln	134570.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134570	FACTOR XIII, A SUBUNIT, DEFICIENCY OF	OMIM	20	smart00460	NULL
2162	119395709	Disease	p.Val316Phe	134570.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134570	FACTOR XIII, A SUBUNIT, DEFICIENCY OF	OMIM	90	pfam01841	NULL
2162	119395709	Disease	p.Val316Phe	134570.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134570	FACTOR XIII, A SUBUNIT, DEFICIENCY OF	OMIM	10	smart00460	NULL
2162	119395709	Disease	p.Tyr283Cys	134570.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134570	FACTOR XIII, A SUBUNIT, DEFICIENCY OF	OMIM	33	pfam01841	NULL
2162	119395709	Disease	p.Arg703Trp	134570.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134570	FACTOR XIII, A SUBUNIT, DEFICIENCY OF	OMIM	87	pfam00927	NULL
2162	119395709	Disease	p.Met242Thr	134570.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134570	FACTOR XIII, A SUBUNIT, DEFICIENCY OF	OMIM	No Domain	N/A	NULL
3075	62739188	Disease	p.Arg1215Gly	134370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	NULL
3075	62739186	Disease	p.Arg1215Gly	134370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1	OMIM	69	pfam00084	NULL
3075	62739188	Disease	p.Cys536Arg	134370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY	OMIM	No Domain	N/A	NULL
3075	62739186	Disease	p.Cys536Arg	134370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY	OMIM	44	pfam00084	NULL
3075	62739186	Disease	p.Cys536Arg	134370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY	OMIM	49	smart00032	NULL
3075	62739186	Disease	p.Cys536Arg	134370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY	OMIM	45	cd00033	NULL
3075	62739188	Disease	p.Cys959Tyr	134370.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY	OMIM	No Domain	N/A	NULL
3075	62739186	Disease	p.Cys959Tyr	134370.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY	OMIM	45	cd00033	NULL
3075	62739186	Disease	p.Cys959Tyr	134370.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY	OMIM	44	pfam00084	NULL
3075	62739186	Disease	p.Cys959Tyr	134370.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY	OMIM	49	smart00032	NULL
3075	62739188	Disease	p.Cys431Ser	134370.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY	OMIM	73	cd00033	NULL
3075	62739188	Disease	p.Cys431Ser	134370.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY	OMIM	72	pfam00084	NULL
3075	62739188	Disease	p.Cys431Ser	134370.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY	OMIM	87	smart00032	NULL
3075	62739186	Disease	p.Cys431Ser	134370.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY	OMIM	73	cd00033	NULL
3075	62739186	Disease	p.Cys431Ser	134370.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY	OMIM	72	pfam00084	NULL
3075	62739186	Disease	p.Cys431Ser	134370.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY	OMIM	87	smart00032	NULL
3075	62739188	Disease	p.Arg127Leu	134370.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY	OMIM	71	cd00033	NULL
3075	62739188	Disease	p.Arg127Leu	134370.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY	OMIM	70	pfam00084	NULL
3075	62739188	Disease	p.Arg127Leu	134370.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY	OMIM	85	smart00032	NULL
3075	62739186	Disease	p.Arg127Leu	134370.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY	OMIM	71	cd00033	NULL
3075	62739186	Disease	p.Arg127Leu	134370.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY	OMIM	70	pfam00084	NULL
3075	62739186	Disease	p.Arg127Leu	134370.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY	OMIM	85	smart00032	NULL
3075	62739188	Disease	p.Arg1210Cys	134370.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	GLOMERULONEPHRITIS WITH ISOLATED C3 DEPOSITS AND FACTOR H DEFICIENCY||HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1	OMIM	No Domain	N/A	NULL
3075	62739186	Disease	p.Arg1210Cys	134370.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	GLOMERULONEPHRITIS WITH ISOLATED C3 DEPOSITS AND FACTOR H DEFICIENCY||HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1	OMIM	61	pfam00084	NULL
3075	62739188	Disease	p.Arg1078Ser	134370.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	BASAL LAMINAR DRUSEN	OMIM	No Domain	N/A	NULL
3075	62739186	Disease	p.Arg1078Ser	134370.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	BASAL LAMINAR DRUSEN	OMIM	50	smart00032	NULL
3075	62739186	Disease	p.Arg1078Ser	134370.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	BASAL LAMINAR DRUSEN	OMIM	46	pfam00084	NULL
3075	62739186	Disease	p.Arg1078Ser	134370.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134370	BASAL LAMINAR DRUSEN	OMIM	46	cd00033	NULL
200576	22749359	Disease	p.Val213Gly	134350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134350	COMPLEMENT FACTOR D DEFICIENCY	OMIM	No Domain	N/A	NULL
200576	300669693	Disease	p.Val213Gly	134350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134350	COMPLEMENT FACTOR D DEFICIENCY	OMIM	122	smart00064	121583483,NP_055855
200576	300669693	Disease	p.Val213Gly	134350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134350	COMPLEMENT FACTOR D DEFICIENCY	OMIM	116	cd00065	121583483,NP_055855
200576	300669693	Disease	p.Val213Gly	134350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134350	COMPLEMENT FACTOR D DEFICIENCY	OMIM	336	pfam01363	121583483,NP_055855
200576	295789162	Disease	p.Val213Gly	134350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134350	COMPLEMENT FACTOR D DEFICIENCY	OMIM	122	smart00064	NULL
200576	295789162	Disease	p.Val213Gly	134350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134350	COMPLEMENT FACTOR D DEFICIENCY	OMIM	116	cd00065	NULL
200576	295789162	Disease	p.Val213Gly	134350.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=134350	COMPLEMENT FACTOR D DEFICIENCY	OMIM	336	pfam01363	NULL
2073	51988900	Disease	p.Ala792Val	133530.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133530	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G	OMIM	1264	cd00128	NULL
2073	51988900	Disease	p.Ala792Val	133530.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133530	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G	OMIM	19	pfam00867	NULL
2073	51988900	Disease	p.Ala792Val	133530.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133530	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G	OMIM	18	smart00484	NULL
2073	51988900	Disease	p.Ala792Val	133530.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133530	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G	OMIM	189	COG0258	NULL
2073	51988900	Disease	p.Pro72His	133530.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133530	XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME	OMIM	125	cd00128	NULL
2073	51988900	Disease	p.Pro72His	133530.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133530	XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME	OMIM	147	smart00485	NULL
2073	51988900	Disease	p.Pro72His	133530.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133530	XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME	OMIM	83	pfam00752	NULL
2073	51988900	Disease	p.Leu858Pro	133530.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133530	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G	OMIM	1368	cd00128	NULL
2073	51988900	Disease	p.Leu858Pro	133530.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133530	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G	OMIM	11	smart00279	NULL
2073	51988900	Disease	p.Leu858Pro	133530.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133530	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G	OMIM	236	pfam00867	NULL
2073	51988900	Disease	p.Leu858Pro	133530.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133530	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G	OMIM	280	COG0258	NULL
2073	51988900	Disease	p.Leu858Pro	133530.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133530	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G	OMIM	17	cd00080	NULL
2073	51988900	Disease	p.Ala874Thr	133530.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133530	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G	OMIM	1385	cd00128	NULL
2073	51988900	Disease	p.Ala874Thr	133530.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133530	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G	OMIM	30	smart00279	NULL
2073	51988900	Disease	p.Ala874Thr	133530.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133530	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G	OMIM	313	COG0258	NULL
2073	51988900	Disease	p.Ala874Thr	133530.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133530	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G	OMIM	52	cd00080	NULL
2072	229463004	Disease	p.Arg788Trp	133520.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133520	XERODERMA PIGMENTOSUM, TYPE F	OMIM	162	COG1948	4885217,NP_005227
2072	229463004	Disease	p.Arg153Pro	133520.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133520	XFE PROGEROID SYNDROME	OMIM	No Domain	N/A	4885217,NP_005227
2071	119541	Disease	p.Phe99Ser	133510.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133510	XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME	OMIM	No Domain	N/A	4557563,NP_000113
2071	119541	Disease	p.Thr119Pro	133510.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133510	TRICHOTHIODYSTROPHY	OMIM	No Domain	N/A	4557563,NP_000113
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	136	cd06950	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	176	cd06943	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	135	cd07076	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	135	cd06947	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	135	cd07075	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	146	cd06937	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	135	cd07074	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	190	cd06953	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	178	cd06945	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	145	cd07071	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	145	cd07348	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	148	cd07072	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	135	cd07073	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	181	cd07068	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	172	cd06946	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	133	cd06157	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	705	smart00430	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	151	cd06951	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	154	cd06949	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	166	pfam00104	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	150	cd07069	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	149	cd07070	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	152	cd06944	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	145	cd06929	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	146	cd06948	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	146	cd06931	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	136	cd06930	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	136	cd06950	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	176	cd06943	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	135	cd07076	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	135	cd06947	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	135	cd07075	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	146	cd06937	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	135	cd07074	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	190	cd06953	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	178	cd06945	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	145	cd07071	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	145	cd07348	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	148	cd07072	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	135	cd07073	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	181	cd07068	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	172	cd06946	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	133	cd06157	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	705	smart00430	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	151	cd06951	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	154	cd06949	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	166	pfam00104	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	150	cd07069	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	149	cd07070	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	152	cd06944	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	145	cd06929	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	146	cd06948	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	146	cd06931	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	136	cd06930	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	136	cd06950	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	176	cd06943	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	135	cd07076	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	135	cd06947	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	135	cd07075	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	146	cd06937	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	135	cd07074	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	190	cd06953	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	178	cd06945	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	145	cd07071	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	145	cd07348	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	148	cd07072	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	135	cd07073	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	181	cd07068	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	172	cd06946	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	133	cd06157	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	705	smart00430	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	151	cd06951	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	154	cd06949	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	166	pfam00104	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	150	cd07069	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	149	cd07070	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	152	cd06944	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	145	cd06929	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	146	cd06948	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	146	cd06931	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	136	cd06930	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	136	cd06950	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	176	cd06943	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	135	cd07076	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	135	cd06947	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	135	cd07075	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	146	cd06937	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	135	cd07074	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	190	cd06953	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	178	cd06945	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	145	cd07071	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	145	cd07348	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	148	cd07072	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	135	cd07073	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	181	cd07068	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	172	cd06946	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	133	cd06157	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	705	smart00430	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	151	cd06951	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	154	cd06949	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	166	pfam00104	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	150	cd07069	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	149	cd07070	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	152	cd06944	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	145	cd06929	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	146	cd06948	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	146	cd06931	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Cys447Ala	133430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE	OMIM	136	cd06930	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	52	cd06950	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	64	cd06943	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	51	cd07076	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	51	cd06947	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	51	cd07075	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	64	cd06937	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	51	cd07074	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	52	cd06953	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	93	cd06945	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	64	cd07071	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	64	cd07348	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	67	cd07072	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	51	cd07073	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	89	cd07068	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	89	cd06946	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	21	cd06157	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	19	smart00430	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	43	cd06951	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	62	cd06949	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	63	cd07069	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	62	cd07070	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	64	cd06944	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	25	cd06929	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	54	cd06948	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	58	cd06931	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	22	cd06930	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	52	cd06950	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	64	cd06943	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	51	cd07076	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	51	cd06947	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	51	cd07075	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	64	cd06937	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	51	cd07074	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	52	cd06953	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	93	cd06945	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	64	cd07071	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	64	cd07348	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	67	cd07072	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	51	cd07073	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	89	cd07068	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	89	cd06946	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	21	cd06157	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	19	smart00430	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	43	cd06951	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	62	cd06949	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	63	cd07069	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	62	cd07070	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	64	cd06944	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	25	cd06929	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	54	cd06948	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	58	cd06931	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	22	cd06930	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	52	cd06950	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	64	cd06943	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	51	cd07076	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	51	cd06947	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	51	cd07075	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	64	cd06937	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	51	cd07074	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	52	cd06953	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	93	cd06945	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	64	cd07071	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	64	cd07348	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	67	cd07072	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	51	cd07073	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	89	cd07068	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	89	cd06946	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	21	cd06157	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	19	smart00430	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	43	cd06951	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	62	cd06949	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	63	cd07069	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	62	cd07070	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	64	cd06944	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	25	cd06929	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	54	cd06948	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	58	cd06931	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	22	cd06930	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	52	cd06950	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	64	cd06943	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	51	cd07076	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	51	cd06947	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	51	cd07075	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	64	cd06937	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	51	cd07074	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	52	cd06953	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	93	cd06945	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	64	cd07071	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	64	cd07348	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	67	cd07072	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	51	cd07073	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	89	cd07068	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	89	cd06946	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	21	cd06157	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	19	smart00430	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	43	cd06951	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	62	cd06949	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	63	cd07069	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	62	cd07070	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	64	cd06944	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	25	cd06929	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	54	cd06948	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	58	cd06931	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2099	544257	Disease	p.Val364Glu	133430.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133430	ESTROGEN RESISTANCE	OMIM	22	cd06930	170295802,NP_001116213|170295804,NP_001116214|170295800,NP_001116212|62821794,NP_000116
2053	67476665	Disease	p.Arg287Gln	132811.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132811	HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF	OMIM	2	pfam00561	27597073,NP_001970
2053	67476665	Disease	p.Arg287Gln	132811.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132811	HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF	OMIM	85	COG2267	27597073,NP_001970
2053	67476665	Disease	p.Arg287Gln	132811.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132811	HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF	OMIM	134	COG0596	27597073,NP_001970
2052	123926	Disease	p.Tyr113His	132810.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132810	LYMPHOPROLIFERATIVE DISORDERS, SUSCEPTIBILITY TO||PREECLAMPSIA, SUSCEPTIBILITY TO||EMPHYSEMA, SUSCEPTIBILITY TO||PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SUSCEPTIBILITY TO	OMIM	151	pfam06441	4503583,NP_000111|209862837,NP_001129490
2052	123926	Disease	p.Tyr113His	132810.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132810	LYMPHOPROLIFERATIVE DISORDERS, SUSCEPTIBILITY TO||PREECLAMPSIA, SUSCEPTIBILITY TO||EMPHYSEMA, SUSCEPTIBILITY TO||PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SUSCEPTIBILITY TO	OMIM	151	pfam06441	4503583,NP_000111|209862837,NP_001129490
2052	123926	Disease	p.His139Arg	132810.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132810	EPOXIDE HYDROLASE POLYMORPHISM	OMIM	220	pfam06441	4503583,NP_000111|209862837,NP_001129490
2052	123926	Disease	p.His139Arg	132810.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132810	EPOXIDE HYDROLASE POLYMORPHISM	OMIM	60	COG0596	4503583,NP_000111|209862837,NP_001129490
2052	123926	Disease	p.His139Arg	132810.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132810	EPOXIDE HYDROLASE POLYMORPHISM	OMIM	220	pfam06441	4503583,NP_000111|209862837,NP_001129490
2052	123926	Disease	p.His139Arg	132810.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=132810	EPOXIDE HYDROLASE POLYMORPHISM	OMIM	60	COG0596	4503583,NP_000111|209862837,NP_001129490
1950	251757262	Disease	p.Pro1070Leu	131530.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131530	HYPOMAGNESEMIA 4, RENAL	OMIM	No Domain	N/A	166362728,NP_001954
1950	296011015	Disease	p.Pro1070Leu	131530.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131530	HYPOMAGNESEMIA 4, RENAL	OMIM	No Domain	N/A	NULL
1950	296011013	Disease	p.Pro1070Leu	131530.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131530	HYPOMAGNESEMIA 4, RENAL	OMIM	No Domain	N/A	NULL
8288	1352738	Disease	p.Arg286His	131399.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131399	EOSINOPHIL PEROXIDASE DEFICIENCY	OMIM	306	pfam03098	4503595,NP_000493
2027	301897469	Disease	p.Gly156Asp	131370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	227	cd00308	NULL
2027	301897469	Disease	p.Gly156Asp	131370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	175	COG0148	NULL
2027	301897469	Disease	p.Gly156Asp	131370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	15	pfam00113	NULL
2027	301897469	Disease	p.Gly156Asp	131370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	177	cd03313	NULL
2027	301897477	Disease	p.Gly156Asp	131370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	227	cd00308	NULL
2027	301897477	Disease	p.Gly156Asp	131370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	175	COG0148	NULL
2027	301897477	Disease	p.Gly156Asp	131370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	15	pfam00113	NULL
2027	301897477	Disease	p.Gly156Asp	131370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	177	cd03313	NULL
2027	301897479	Disease	p.Gly156Asp	131370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	271	cd00308	NULL
2027	301897479	Disease	p.Gly156Asp	131370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	58	pfam00113	NULL
2027	301897479	Disease	p.Gly156Asp	131370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	219	COG0148	NULL
2027	301897479	Disease	p.Gly156Asp	131370.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	221	cd03313	NULL
2027	301897469	Disease	p.Gly374Glu	131370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	466	cd00308	NULL
2027	301897469	Disease	p.Gly374Glu	131370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	423	COG0148	NULL
2027	301897469	Disease	p.Gly374Glu	131370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	240	pfam00113	NULL
2027	301897469	Disease	p.Gly374Glu	131370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	430	cd03313	NULL
2027	301897477	Disease	p.Gly374Glu	131370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	466	cd00308	NULL
2027	301897477	Disease	p.Gly374Glu	131370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	423	COG0148	NULL
2027	301897477	Disease	p.Gly374Glu	131370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	240	pfam00113	NULL
2027	301897477	Disease	p.Gly374Glu	131370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	430	cd03313	NULL
2027	301897479	Disease	p.Gly374Glu	131370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	283	pfam00113	NULL
2027	301897479	Disease	p.Gly374Glu	131370.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131370	GLYCOGEN STORAGE DISEASE XIII	OMIM	466	COG0148	NULL
2625	120962	Disease	p.Trp275Arg	131320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131320	HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE	OMIM	17	pfam00320	4503929,NP_002042
2625	120962	Disease	p.Trp275Arg	131320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131320	HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE	OMIM	18	cd00202	4503929,NP_002042
2625	120962	Disease	p.Trp275Arg	131320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131320	HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE	OMIM	21	smart00401	4503929,NP_002042
2625	50541959	Disease	p.Trp275Arg	131320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131320	HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE	OMIM	20	smart00401	NULL
2625	50541959	Disease	p.Trp275Arg	131320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131320	HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE	OMIM	16	pfam00320	NULL
2625	50541959	Disease	p.Trp275Arg	131320.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131320	HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE	OMIM	17	cd00202	NULL
2625	120962	Disease	p.Arg353Ser	131320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131320	HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE	OMIM	57	smart00401	4503929,NP_002042
2625	120962	Disease	p.Arg353Ser	131320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131320	HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE	OMIM	48	cd00202	4503929,NP_002042
2625	50541959	Disease	p.Arg353Ser	131320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131320	HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE	OMIM	47	cd00202	NULL
2625	50541959	Disease	p.Arg353Ser	131320.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131320	HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE	OMIM	56	smart00401	NULL
1910	4503467	Disease	p.Trp276Cys	131244.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131244	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2||WAARDENBURG SYNDROME, TYPE 4A	OMIM	183	pfam00001	NULL
1910	119622	Disease	p.Trp276Cys	131244.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131244	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2||WAARDENBURG SYNDROME, TYPE 4A	OMIM	183	pfam00001	4557547,NP_000106|169808392,NP_001116131
1910	119622	Disease	p.Trp276Cys	131244.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131244	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2||WAARDENBURG SYNDROME, TYPE 4A	OMIM	183	pfam00001	4557547,NP_000106|169808392,NP_001116131
1910	4503467	Disease	p.Ala183Gly	131244.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131244	WAARDENBURG SYNDROME, TYPE 4A	OMIM	76	pfam00001	NULL
1910	119622	Disease	p.Ala183Gly	131244.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131244	WAARDENBURG SYNDROME, TYPE 4A	OMIM	76	pfam00001	4557547,NP_000106|169808392,NP_001116131
1910	119622	Disease	p.Ala183Gly	131244.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131244	WAARDENBURG SYNDROME, TYPE 4A	OMIM	76	pfam00001	4557547,NP_000106|169808392,NP_001116131
1910	4503467	Disease	p.Gly57Ser	131244.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131244	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2	OMIM	No Domain	N/A	NULL
1910	119622	Disease	p.Gly57Ser	131244.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131244	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2	OMIM	No Domain	N/A	4557547,NP_000106|169808392,NP_001116131
1910	119622	Disease	p.Gly57Ser	131244.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131244	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2	OMIM	No Domain	N/A	4557547,NP_000106|169808392,NP_001116131
1910	4503467	Disease	p.Ser305Asn	131244.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131244	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2	OMIM	213	pfam00001	NULL
1910	119622	Disease	p.Ser305Asn	131244.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131244	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2	OMIM	213	pfam00001	4557547,NP_000106|169808392,NP_001116131
1910	119622	Disease	p.Ser305Asn	131244.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131244	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2	OMIM	213	pfam00001	4557547,NP_000106|169808392,NP_001116131
1908	46370062	Disease	p.Cys159Phe	131242.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	WAARDENBURG SYNDROME TYPE 4B	OMIM	2	smart00272	NULL
1908	119618	Disease	p.Cys159Phe	131242.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	WAARDENBURG SYNDROME TYPE 4B	OMIM	2	smart00272	46370064,NP_996917|4557545,NP_000105
1908	46370060	Disease	p.Cys159Phe	131242.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	WAARDENBURG SYNDROME TYPE 4B	OMIM	2	smart00272	NULL
1908	119618	Disease	p.Cys159Phe	131242.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	WAARDENBURG SYNDROME TYPE 4B	OMIM	2	smart00272	46370064,NP_996917|4557545,NP_000105
1908	46370062	Disease	p.Ala17Thr	131242.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4	OMIM	No Domain	N/A	NULL
1908	119618	Disease	p.Ala17Thr	131242.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4	OMIM	No Domain	N/A	46370064,NP_996917|4557545,NP_000105
1908	46370060	Disease	p.Ala17Thr	131242.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4	OMIM	No Domain	N/A	NULL
1908	119618	Disease	p.Ala17Thr	131242.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4	OMIM	No Domain	N/A	46370064,NP_996917|4557545,NP_000105
1908	46370062	Disease	p.Ala224Thr	131242.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4	OMIM	No Domain	N/A	NULL
1908	119618	Disease	p.Ala224Thr	131242.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4	OMIM	No Domain	N/A	46370064,NP_996917|4557545,NP_000105
1908	46370060	Disease	p.Ala224Thr	131242.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4	OMIM	No Domain	N/A	NULL
1908	119618	Disease	p.Ala224Thr	131242.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4	OMIM	No Domain	N/A	46370064,NP_996917|4557545,NP_000105
1908	46370062	Disease	p.His112Arg	131242.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	WAARDENBURG SYNDROME TYPE 4B	OMIM	21	pfam00322	NULL
1908	46370062	Disease	p.His112Arg	131242.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	WAARDENBURG SYNDROME TYPE 4B	OMIM	17	smart00272	NULL
1908	119618	Disease	p.His112Arg	131242.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	WAARDENBURG SYNDROME TYPE 4B	OMIM	21	pfam00322	46370064,NP_996917|4557545,NP_000105
1908	119618	Disease	p.His112Arg	131242.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	WAARDENBURG SYNDROME TYPE 4B	OMIM	17	smart00272	46370064,NP_996917|4557545,NP_000105
1908	46370060	Disease	p.His112Arg	131242.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	WAARDENBURG SYNDROME TYPE 4B	OMIM	21	pfam00322	NULL
1908	46370060	Disease	p.His112Arg	131242.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	WAARDENBURG SYNDROME TYPE 4B	OMIM	17	smart00272	NULL
1908	119618	Disease	p.His112Arg	131242.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	WAARDENBURG SYNDROME TYPE 4B	OMIM	21	pfam00322	46370064,NP_996917|4557545,NP_000105
1908	119618	Disease	p.His112Arg	131242.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	WAARDENBURG SYNDROME TYPE 4B	OMIM	17	smart00272	46370064,NP_996917|4557545,NP_000105
1908	46370062	Disease	p.Arg93Gly	131242.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	WAARDENBURG SYNDROME TYPE 4B	OMIM	No Domain	N/A	NULL
1908	119618	Disease	p.Arg93Gly	131242.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	WAARDENBURG SYNDROME TYPE 4B	OMIM	No Domain	N/A	46370064,NP_996917|4557545,NP_000105
1908	46370060	Disease	p.Arg93Gly	131242.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	WAARDENBURG SYNDROME TYPE 4B	OMIM	No Domain	N/A	NULL
1908	119618	Disease	p.Arg93Gly	131242.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131242	WAARDENBURG SYNDROME TYPE 4B	OMIM	No Domain	N/A	46370064,NP_996917|4557545,NP_000105
1906	119610	Disease	p.Lys198Asn	131240.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131240	HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7	OMIM	No Domain	N/A	154800437,NP_001946
1906	269995983	Disease	p.Lys198Asn	131240.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131240	HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7	OMIM	No Domain	N/A	NULL
1890	67477361	Disease	p.Glu289Ala	131222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	196	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Glu289Ala	131222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	330	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Glu289Ala	131222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	259	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Glu289Ala	131222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	196	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Glu289Ala	131222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	330	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Glu289Ala	131222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	259	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Glu289Ala	131222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	196	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Glu289Ala	131222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	330	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Glu289Ala	131222.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	259	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly145Arg	131222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	42	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly145Arg	131222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	142	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly145Arg	131222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	115	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly145Arg	131222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	42	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly145Arg	131222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	142	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly145Arg	131222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	115	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly145Arg	131222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	42	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly145Arg	131222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	142	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly145Arg	131222.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	115	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Lys222Ser	131222.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	119	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Lys222Ser	131222.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	238	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Lys222Ser	131222.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	192	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Lys222Ser	131222.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	119	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Lys222Ser	131222.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	238	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Lys222Ser	131222.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	192	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Lys222Ser	131222.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	119	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Lys222Ser	131222.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	238	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Lys222Ser	131222.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	192	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly153Ser	131222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	50	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly153Ser	131222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	150	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly153Ser	131222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	123	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly153Ser	131222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	50	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly153Ser	131222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	150	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly153Ser	131222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	123	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly153Ser	131222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	50	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly153Ser	131222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	150	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly153Ser	131222.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	123	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Arg44Gln	131222.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	11	pfam02885	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Arg44Gln	131222.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	12	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Arg44Gln	131222.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	12	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Arg44Gln	131222.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	11	pfam02885	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Arg44Gln	131222.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	12	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Arg44Gln	131222.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	12	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Arg44Gln	131222.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	11	pfam02885	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Arg44Gln	131222.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	12	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Arg44Gln	131222.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	12	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Val208Met	131222.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	105	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Val208Met	131222.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	206	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Val208Met	131222.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	178	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Val208Met	131222.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	105	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Val208Met	131222.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	206	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Val208Met	131222.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	178	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Val208Met	131222.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	105	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Val208Met	131222.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	206	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Val208Met	131222.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	178	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly311Arg	131222.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	222	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly311Arg	131222.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	356	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly311Arg	131222.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	284	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly311Arg	131222.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	222	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly311Arg	131222.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	356	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly311Arg	131222.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	284	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly311Arg	131222.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	222	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly311Arg	131222.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	356	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly311Arg	131222.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	284	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Arg202Thr	131222.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	99	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Arg202Thr	131222.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	200	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Arg202Thr	131222.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	172	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Arg202Thr	131222.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	99	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Arg202Thr	131222.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	200	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Arg202Thr	131222.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	172	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Arg202Thr	131222.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	99	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Arg202Thr	131222.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	200	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Arg202Thr	131222.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	172	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Leu285Pro	131222.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	192	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Leu285Pro	131222.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	324	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Leu285Pro	131222.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	255	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Leu285Pro	131222.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	192	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Leu285Pro	131222.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	324	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Leu285Pro	131222.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	255	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Leu285Pro	131222.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	192	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Leu285Pro	131222.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	324	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Leu285Pro	131222.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131222	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME	OMIM	255	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
6401	126180	Disease	p.His468Tyr	131210.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131210	IgA NEPHROPATHY, SUSCEPTIBILITY TO	OMIM	53	pfam00084	187960042,NP_000441
6401	126180	Disease	p.His468Tyr	131210.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131210	IgA NEPHROPATHY, SUSCEPTIBILITY TO	OMIM	67	smart00032	187960042,NP_000441
6401	126180	Disease	p.His468Tyr	131210.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131210	IgA NEPHROPATHY, SUSCEPTIBILITY TO	OMIM	58	cd00033	187960042,NP_000441
2022	3041681	Disease	p.Met1Thr	131195.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131195	HEREDITARY HEMORRHAGIC TELANGIECTASIA	OMIM	No Domain	N/A	168693647,NP_001108225
2022	4557555	Disease	p.Met1Thr	131195.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131195	HEREDITARY HEMORRHAGIC TELANGIECTASIA	OMIM	No Domain	N/A	NULL
2022	3041681	Disease	p.Gly413Val	131195.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131195	HEREDITARY HEMORRHAGIC TELANGIECTASIA	OMIM	179	pfam00100	168693647,NP_001108225
2022	4557555	Disease	p.Gly413Val	131195.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131195	HEREDITARY HEMORRHAGIC TELANGIECTASIA	OMIM	179	pfam00100	NULL
4221	93141285	Disease	p.Glu26Lys	131100.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	PARATHYROID ADENOMA, SOMATIC	OMIM	26	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Glu26Lys	131100.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	PARATHYROID ADENOMA, SOMATIC	OMIM	26	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Glu26Lys	131100.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	PARATHYROID ADENOMA, SOMATIC	OMIM	26	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Glu26Lys	131100.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	PARATHYROID ADENOMA, SOMATIC	OMIM	26	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	18860847	Disease	p.Glu26Lys	131100.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	PARATHYROID ADENOMA, SOMATIC	OMIM	26	pfam05053	NULL
4221	93141285	Disease	p.Glu26Lys	131100.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	PARATHYROID ADENOMA, SOMATIC	OMIM	26	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Glu26Lys	131100.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	PARATHYROID ADENOMA, SOMATIC	OMIM	26	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Lys135Ile	131100.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ANGIOFIBROMA, SOMATIC	OMIM	146	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Lys135Ile	131100.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ANGIOFIBROMA, SOMATIC	OMIM	146	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Lys135Ile	131100.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ANGIOFIBROMA, SOMATIC	OMIM	146	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Lys135Ile	131100.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ANGIOFIBROMA, SOMATIC	OMIM	146	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	18860847	Disease	p.Lys135Ile	131100.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ANGIOFIBROMA, SOMATIC	OMIM	146	pfam05053	NULL
4221	93141285	Disease	p.Lys135Ile	131100.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ANGIOFIBROMA, SOMATIC	OMIM	146	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Lys135Ile	131100.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ANGIOFIBROMA, SOMATIC	OMIM	146	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Glu359Lys	131100.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ANGIOFIBROMA, SOMATIC	OMIM	371	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Glu359Lys	131100.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ANGIOFIBROMA, SOMATIC	OMIM	371	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Glu359Lys	131100.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ANGIOFIBROMA, SOMATIC	OMIM	371	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Glu359Lys	131100.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ANGIOFIBROMA, SOMATIC	OMIM	371	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	18860847	Disease	p.Glu359Lys	131100.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ANGIOFIBROMA, SOMATIC	OMIM	376	pfam05053	NULL
4221	93141285	Disease	p.Glu359Lys	131100.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ANGIOFIBROMA, SOMATIC	OMIM	371	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Glu359Lys	131100.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ANGIOFIBROMA, SOMATIC	OMIM	371	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Glu255Lys	131100.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY	OMIM	266	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Glu255Lys	131100.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY	OMIM	266	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Glu255Lys	131100.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY	OMIM	266	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Glu255Lys	131100.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY	OMIM	266	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	18860847	Disease	p.Glu255Lys	131100.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY	OMIM	271	pfam05053	NULL
4221	93141285	Disease	p.Glu255Lys	131100.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY	OMIM	266	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Glu255Lys	131100.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY	OMIM	266	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Val184Glu	131100.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY	OMIM	195	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Val184Glu	131100.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY	OMIM	195	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Val184Glu	131100.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY	OMIM	195	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Val184Glu	131100.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY	OMIM	195	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	18860847	Disease	p.Val184Glu	131100.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY	OMIM	200	pfam05053	NULL
4221	93141285	Disease	p.Val184Glu	131100.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY	OMIM	195	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Val184Glu	131100.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY	OMIM	195	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Thr552Ser	131100.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ADRENAL ADENOMA, SOMATIC	OMIM	647	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Thr552Ser	131100.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ADRENAL ADENOMA, SOMATIC	OMIM	647	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Thr552Ser	131100.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ADRENAL ADENOMA, SOMATIC	OMIM	647	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Thr552Ser	131100.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ADRENAL ADENOMA, SOMATIC	OMIM	647	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	18860847	Disease	p.Thr552Ser	131100.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ADRENAL ADENOMA, SOMATIC	OMIM	673	pfam05053	NULL
4221	93141285	Disease	p.Thr552Ser	131100.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ADRENAL ADENOMA, SOMATIC	OMIM	647	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Thr552Ser	131100.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131100	ADRENAL ADENOMA, SOMATIC	OMIM	647	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
2035	42716291	Disease	p.Met1Arg	130500.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130500	ELLIPTOCYTOSIS 1||PROTEIN 4.1 MADRID	OMIM	No Domain	N/A	NULL
2035	260436837	Disease	p.Met1Arg	130500.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130500	ELLIPTOCYTOSIS 1||PROTEIN 4.1 MADRID	OMIM	No Domain	N/A	NULL
2035	90101808	Disease	p.Met1Arg	130500.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130500	ELLIPTOCYTOSIS 1||PROTEIN 4.1 MADRID	OMIM	No Domain	N/A	260436831,NP_001159477
2035	260436834	Disease	p.Met1Arg	130500.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130500	ELLIPTOCYTOSIS 1||PROTEIN 4.1 MADRID	OMIM	No Domain	N/A	NULL
2035	42716289	Disease	p.Met1Arg	130500.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130500	ELLIPTOCYTOSIS 1||PROTEIN 4.1 MADRID	OMIM	No Domain	N/A	NULL
2035	4758274	Disease	p.Met1Arg	130500.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130500	ELLIPTOCYTOSIS 1||PROTEIN 4.1 MADRID	OMIM	No Domain	N/A	NULL
2035	42716291	Disease	p.Met1Thr	130500.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130500	ELLIPTOCYTOSIS 1||PROTEIN 4.1 LILLE	OMIM	No Domain	N/A	NULL
2035	260436837	Disease	p.Met1Thr	130500.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130500	ELLIPTOCYTOSIS 1||PROTEIN 4.1 LILLE	OMIM	No Domain	N/A	NULL
2035	90101808	Disease	p.Met1Thr	130500.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130500	ELLIPTOCYTOSIS 1||PROTEIN 4.1 LILLE	OMIM	No Domain	N/A	260436831,NP_001159477
2035	260436834	Disease	p.Met1Thr	130500.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130500	ELLIPTOCYTOSIS 1||PROTEIN 4.1 LILLE	OMIM	No Domain	N/A	NULL
2035	42716289	Disease	p.Met1Thr	130500.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130500	ELLIPTOCYTOSIS 1||PROTEIN 4.1 LILLE	OMIM	No Domain	N/A	NULL
2035	4758274	Disease	p.Met1Thr	130500.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130500	ELLIPTOCYTOSIS 1||PROTEIN 4.1 LILLE	OMIM	No Domain	N/A	NULL
2109	585110	Disease	p.Arg164Gln	130410.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410	GLUTARIC ACIDURIA IIB	OMIM	210	cd01984	4503609,NP_001976
2109	585110	Disease	p.Arg164Gln	130410.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410	GLUTARIC ACIDURIA IIB	OMIM	183	COG2086	4503609,NP_001976
2109	585110	Disease	p.Arg164Gln	130410.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410	GLUTARIC ACIDURIA IIB	OMIM	294	pfam01012	4503609,NP_001976
2109	585110	Disease	p.Arg164Gln	130410.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410	GLUTARIC ACIDURIA IIB	OMIM	200	cd01985	4503609,NP_001976
2109	585110	Disease	p.Arg164Gln	130410.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410	GLUTARIC ACIDURIA IIB	OMIM	189	cd01714	4503609,NP_001976
2109	62420877	Disease	p.Arg164Gln	130410.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410	GLUTARIC ACIDURIA IIB	OMIM	85	cd01714	NULL
2109	62420877	Disease	p.Arg164Gln	130410.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410	GLUTARIC ACIDURIA IIB	OMIM	95	pfam01012	NULL
2109	62420877	Disease	p.Arg164Gln	130410.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410	GLUTARIC ACIDURIA IIB	OMIM	80	cd01985	NULL
2109	62420877	Disease	p.Arg164Gln	130410.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410	GLUTARIC ACIDURIA IIB	OMIM	75	COG2086	NULL
2109	62420877	Disease	p.Arg164Gln	130410.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410	GLUTARIC ACIDURIA IIB	OMIM	77	cd01984	NULL
2109	585110	Disease	p.Asp128Asn	130410.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410	GLUTARIC ACIDURIA IIB	OMIM	171	cd01984	4503609,NP_001976
2109	585110	Disease	p.Asp128Asn	130410.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410	GLUTARIC ACIDURIA IIB	OMIM	143	COG2086	4503609,NP_001976
2109	585110	Disease	p.Asp128Asn	130410.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410	GLUTARIC ACIDURIA IIB	OMIM	197	pfam01012	4503609,NP_001976
2109	585110	Disease	p.Asp128Asn	130410.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410	GLUTARIC ACIDURIA IIB	OMIM	148	cd01985	4503609,NP_001976
2109	585110	Disease	p.Asp128Asn	130410.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410	GLUTARIC ACIDURIA IIB	OMIM	149	cd01714	4503609,NP_001976
2109	62420877	Disease	p.Asp128Asn	130410.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410	GLUTARIC ACIDURIA IIB	OMIM	40	cd01714	NULL
2109	62420877	Disease	p.Asp128Asn	130410.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410	GLUTARIC ACIDURIA IIB	OMIM	22	pfam01012	NULL
2109	62420877	Disease	p.Asp128Asn	130410.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410	GLUTARIC ACIDURIA IIB	OMIM	40	cd01985	NULL
2109	62420877	Disease	p.Asp128Asn	130410.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410	GLUTARIC ACIDURIA IIB	OMIM	34	COG2086	NULL
2109	62420877	Disease	p.Asp128Asn	130410.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130410	GLUTARIC ACIDURIA IIB	OMIM	32	cd01984	NULL
1991	119292	Disease	p.Arg191Gln	130130.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	CYCLIC HEMATOPOIESIS	OMIM	314	cd00190	4503549,NP_001963
1991	119292	Disease	p.Arg191Gln	130130.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	CYCLIC HEMATOPOIESIS	OMIM	274	pfam00089	4503549,NP_001963
1991	119292	Disease	p.Arg191Gln	130130.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	CYCLIC HEMATOPOIESIS	OMIM	468	smart00020	4503549,NP_001963
1991	119292	Disease	p.Leu177Phe	130130.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	CYCLIC HEMATOPOIESIS	OMIM	267	cd00190	4503549,NP_001963
1991	119292	Disease	p.Leu177Phe	130130.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	CYCLIC HEMATOPOIESIS	OMIM	225	pfam00089	4503549,NP_001963
1991	119292	Disease	p.Leu177Phe	130130.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	CYCLIC HEMATOPOIESIS	OMIM	403	smart00020	4503549,NP_001963
1991	119292	Disease	p.Ala32Val	130130.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	CYCLIC HEMATOPOIESIS	OMIM	3	cd00190	4503549,NP_001963
1991	119292	Disease	p.Ala32Val	130130.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	CYCLIC HEMATOPOIESIS	OMIM	3	pfam00089	4503549,NP_001963
1991	119292	Disease	p.Ala32Val	130130.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	CYCLIC HEMATOPOIESIS	OMIM	4	smart00020	4503549,NP_001963
1991	119292	Disease	p.Pro110Leu	130130.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	OMIM	132	cd00190	4503549,NP_001963
1991	119292	Disease	p.Pro110Leu	130130.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	OMIM	125	pfam00089	4503549,NP_001963
1991	119292	Disease	p.Pro110Leu	130130.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	OMIM	202	smart00020	4503549,NP_001963
1991	119292	Disease	p.Val72Met	130130.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	OMIM	62	cd00190	4503549,NP_001963
1991	119292	Disease	p.Val72Met	130130.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	OMIM	59	pfam00089	4503549,NP_001963
1991	119292	Disease	p.Val72Met	130130.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	OMIM	68	smart00020	4503549,NP_001963
1991	119292	Disease	p.Ser97Leu	130130.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	OMIM	116	cd00190	4503549,NP_001963
1991	119292	Disease	p.Ser97Leu	130130.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	OMIM	109	pfam00089	4503549,NP_001963
1991	119292	Disease	p.Ser97Leu	130130.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	OMIM	172	smart00020	4503549,NP_001963
1991	119292	Disease	p.Cys42Arg	130130.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	OMIM	17	cd00190	4503549,NP_001963
1991	119292	Disease	p.Cys42Arg	130130.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	OMIM	13	pfam00089	4503549,NP_001963
1991	119292	Disease	p.Cys42Arg	130130.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	OMIM	20	smart00020	4503549,NP_001963
1991	119292	Disease	p.Val69Leu	130130.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	OMIM	59	cd00190	4503549,NP_001963
1991	119292	Disease	p.Val69Leu	130130.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	OMIM	56	pfam00089	4503549,NP_001963
1991	119292	Disease	p.Val69Leu	130130.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	OMIM	65	smart00020	4503549,NP_001963
1991	119292	Disease	p.Gly185Arg	130130.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	OMIM	308	cd00190	4503549,NP_001963
1991	119292	Disease	p.Gly185Arg	130130.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	OMIM	261	pfam00089	4503549,NP_001963
1991	119292	Disease	p.Gly185Arg	130130.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130130	NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	OMIM	461	smart00020	4503549,NP_001963
1959	209969757	Disease	p.Ile268Asn	129010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
1959	33112654	Disease	p.Ile268Asn	129010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Ile268Asn	129010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Ile268Asn	129010.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	209969757	Disease	p.Arg409Trp	129010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D	OMIM	No Domain	N/A	NULL
1959	33112654	Disease	p.Arg409Trp	129010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D	OMIM	18	pfam00096	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Arg409Trp	129010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D	OMIM	21	smart00355	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Arg409Trp	129010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D	OMIM	18	pfam00096	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Arg409Trp	129010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D	OMIM	21	smart00355	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Arg409Trp	129010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D	OMIM	18	pfam00096	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Arg409Trp	129010.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D	OMIM	21	smart00355	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	209969757	Disease	p.Ser382Arg	129010.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
1959	33112654	Disease	p.Ser382Arg	129010.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT	OMIM	22	smart00355	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Ser382Arg	129010.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT	OMIM	19	pfam00096	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Ser382Arg	129010.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT	OMIM	22	smart00355	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Ser382Arg	129010.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT	OMIM	19	pfam00096	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Ser382Arg	129010.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT	OMIM	22	smart00355	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Ser382Arg	129010.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT	OMIM	19	pfam00096	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	209969757	Disease	p.Arg359Trp	129010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D	OMIM	18	pfam00096	NULL
1959	209969757	Disease	p.Arg359Trp	129010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D	OMIM	21	smart00355	NULL
1959	33112654	Disease	p.Arg359Trp	129010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D	OMIM	27	smart00355	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Arg359Trp	129010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D	OMIM	27	pfam00096	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Arg359Trp	129010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D	OMIM	27	smart00355	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Arg359Trp	129010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D	OMIM	27	pfam00096	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Arg359Trp	129010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D	OMIM	27	smart00355	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Arg359Trp	129010.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D	OMIM	27	pfam00096	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	209969757	Disease	p.Glu412Lys	129010.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	DEJERINE-SOTTAS NEUROPATHY	OMIM	No Domain	N/A	NULL
1959	33112654	Disease	p.Glu412Lys	129010.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	DEJERINE-SOTTAS NEUROPATHY	OMIM	24	pfam00096	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Glu412Lys	129010.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	DEJERINE-SOTTAS NEUROPATHY	OMIM	24	smart00355	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Glu412Lys	129010.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	DEJERINE-SOTTAS NEUROPATHY	OMIM	24	pfam00096	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Glu412Lys	129010.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	DEJERINE-SOTTAS NEUROPATHY	OMIM	24	smart00355	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Glu412Lys	129010.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	DEJERINE-SOTTAS NEUROPATHY	OMIM	24	pfam00096	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Glu412Lys	129010.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129010	DEJERINE-SOTTAS NEUROPATHY	OMIM	24	smart00355	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1811	729367	Disease	p.His124Leu	126650.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126650	CHLORIDE DIARRHEA, CONGENITAL	OMIM	108	COG0659	4557535,NP_000102
6531	266667	Disease	p.Leu368Gln	126455.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126455	PARKINSONISM-DYSTONIA, INFANTILE	OMIM	336	pfam00209	4507041,NP_001035
6531	266667	Disease	p.Leu368Gln	126455.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126455	PARKINSONISM-DYSTONIA, INFANTILE	OMIM	332	COG0733	4507041,NP_001035
6531	266667	Disease	p.Pro395Leu	126455.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126455	PARKINSONISM-DYSTONIA, INFANTILE	OMIM	427	pfam00209	4507041,NP_001035
6531	266667	Disease	p.Pro395Leu	126455.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126455	PARKINSONISM-DYSTONIA, INFANTILE	OMIM	364	COG0733	4507041,NP_001035
1815	32483397	Disease	p.Val194Gly	126452.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126452	DOPAMINE RECEPTOR D4 POLYMORPHISM	OMIM	182	pfam00001	NULL
1814	89191861	Disease	p.Ser9Gly	126451.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126451	SCHIZOPHRENIA, SUSCEPTIBILITY TO||ESSENTIAL TREMOR, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
1814	89191863	Disease	p.Ser9Gly	126451.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126451	SCHIZOPHRENIA, SUSCEPTIBILITY TO||ESSENTIAL TREMOR, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
1813	17986270	Disease	p.Val154Ile	126450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126450	MYOCLONUS-DYSTONIA SYNDROME	OMIM	115	pfam00001	NULL
1813	17986270	Disease	p.Val154Ile	126450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126450	MYOCLONUS-DYSTONIA SYNDROME	OMIM	112	pfam10320	NULL
1813	118206	Disease	p.Val154Ile	126450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126450	MYOCLONUS-DYSTONIA SYNDROME	OMIM	115	pfam00001	4503385,NP_000786
1813	118206	Disease	p.Val154Ile	126450.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126450	MYOCLONUS-DYSTONIA SYNDROME	OMIM	112	pfam10320	4503385,NP_000786
7153	13959709	Disease	p.Arg486Lys	126430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126430	DNA TOPOISOMERASE II, RESISTANCE TO INHIBITION OF, BY AMSACRINE	OMIM	67	cd00188	19913406,NP_001058
7153	13959709	Disease	p.Arg486Lys	126430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126430	DNA TOPOISOMERASE II, RESISTANCE TO INHIBITION OF, BY AMSACRINE	OMIM	34	cd01030	19913406,NP_001058
7153	13959709	Disease	p.Arg486Lys	126430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126430	DNA TOPOISOMERASE II, RESISTANCE TO INHIBITION OF, BY AMSACRINE	OMIM	34	cd03365	19913406,NP_001058
7153	13959709	Disease	p.Arg486Lys	126430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126430	DNA TOPOISOMERASE II, RESISTANCE TO INHIBITION OF, BY AMSACRINE	OMIM	29	cd03366	19913406,NP_001058
7153	13959709	Disease	p.Arg486Lys	126430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126430	DNA TOPOISOMERASE II, RESISTANCE TO INHIBITION OF, BY AMSACRINE	OMIM	575	smart00433	19913406,NP_001058
7153	13959709	Disease	p.Arg486Lys	126430.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126430	DNA TOPOISOMERASE II, RESISTANCE TO INHIBITION OF, BY AMSACRINE	OMIM	1045	COG0187	19913406,NP_001058
7150	12644118	Disease	p.Asp533Gly	126420.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126420	DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT	OMIM	103	cd00397	11225260,NP_003277
7150	12644118	Disease	p.Asp533Gly	126420.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126420	DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT	OMIM	216	smart00435	11225260,NP_003277
7150	12644118	Disease	p.Asp533Gly	126420.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126420	DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT	OMIM	227	pfam01028	11225260,NP_003277
7150	12644118	Disease	p.Asp533Gly	126420.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126420	DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT	OMIM	362	COG3569	11225260,NP_003277
7150	12644118	Disease	p.Asp533Gly	126420.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126420	DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT	OMIM	140	cd00659	11225260,NP_003277
7150	12644118	Disease	p.Glu418Lys	126420.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126420	DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT	OMIM	64	smart00435	11225260,NP_003277
7150	12644118	Disease	p.Glu418Lys	126420.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126420	DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT	OMIM	257	pfam02919	11225260,NP_003277
7150	12644118	Disease	p.Glu418Lys	126420.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126420	DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT	OMIM	248	COG3569	11225260,NP_003277
7150	12644118	Disease	p.Glu418Lys	126420.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126420	DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT	OMIM	216	cd03490	11225260,NP_003277
7150	12644118	Disease	p.Glu418Lys	126420.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126420	DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT	OMIM	217	cd03488	11225260,NP_003277
7150	12644118	Disease	p.Glu418Lys	126420.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126420	DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT	OMIM	201	cd03489	11225260,NP_003277
7150	12644118	Disease	p.Glu418Lys	126420.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126420	DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT	OMIM	223	cd00660	11225260,NP_003277
26018	143811415	Disease	p.Glu566Lys	126391.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	100	pfam07686	54607118,NP_056356
26018	143811415	Disease	p.Glu566Lys	126391.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	84	pfam07679	54607118,NP_056356
26018	143811415	Disease	p.Glu566Lys	126391.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	98	cd00096	54607118,NP_056356
26018	143811415	Disease	p.Glu566Lys	126391.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	181	smart00409	54607118,NP_056356
26018	143811415	Disease	p.Glu566Lys	126391.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	181	smart00410	54607118,NP_056356
26018	143811415	Disease	p.Glu566Lys	126391.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	108	smart00408	54607118,NP_056356
26018	143811415	Disease	p.Glu566Lys	126391.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	78	pfam00047	54607118,NP_056356
26018	143811415	Disease	p.Glu566Lys	126391.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	67	cd05722	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	83	cd05737	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	104	pfam07679	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	81	cd05762	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	86	cd05730	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	76	cd05728	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	90	cd05732	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	84	cd05724	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	65	cd05723	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	97	cd05748	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	72	cd05750	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	61	cd05746	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	66	cd05893	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	66	cd05744	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	64	cd04976	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	66	cd05892	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	63	cd05725	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	64	cd05736	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	166	cd00096	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	61	cd05876	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	64	cd05738	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	65	cd05763	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	105	cd05894	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	230	smart00409	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	230	smart00410	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	76	cd05857	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	73	cd05856	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	136	pfam07686	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	76	cd05729	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	89	cd07693	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	82	cd05740	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	79	cd04968	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	78	cd05851	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	61	cd05739	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	72	cd05726	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	64	cd05852	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	67	cd05743	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	78	cd04969	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	73	cd05765	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	65	cd05764	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	65	cd05745	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	70	cd04978	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	66	cd05868	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	83	cd05891	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	84	cd05747	54607118,NP_056356
26018	143811415	Disease	p.Arg771Trp	126391.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126391	DNA LIGASE I DEFICIENCY	OMIM	88	cd05869	54607118,NP_056356
2067	42544169	Disease	p.Phe231Leu	126380.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126380	CEREBROOCULOFACIOSKELETAL SYNDROME 4	OMIM	177	COG5241	NULL
2067	119538	Disease	p.Phe231Leu	126380.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126380	CEREBROOCULOFACIOSKELETAL SYNDROME 4	OMIM	177	COG5241	4503599,NP_001974
2067	260593725	Disease	p.Phe231Leu	126380.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126380	CEREBROOCULOFACIOSKELETAL SYNDROME 4	OMIM	177	COG5241	NULL
2068	119540	Disease	p.Leu461Val	126340.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D||TRICHOTHIODYSTROPHY	OMIM	745	COG1199	15834617,NP_000391
2068	195947407	Disease	p.Leu461Val	126340.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D||TRICHOTHIODYSTROPHY	OMIM	No Domain	N/A	NULL
2068	119540	Disease	p.Ala725Pro	126340.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	TRICHOTHIODYSTROPHY	OMIM	No Domain	N/A	15834617,NP_000391
2068	195947407	Disease	p.Ala725Pro	126340.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	TRICHOTHIODYSTROPHY	OMIM	No Domain	N/A	NULL
2068	119540	Disease	p.Ser541Arg	126340.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	OMIM	855	COG1199	15834617,NP_000391
2068	195947407	Disease	p.Ser541Arg	126340.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	OMIM	No Domain	N/A	NULL
2068	119540	Disease	p.Arg112His	126340.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	TRICHOTHIODYSTROPHY||XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	OMIM	256	smart00489	15834617,NP_000391
2068	119540	Disease	p.Arg112His	126340.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	TRICHOTHIODYSTROPHY||XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	OMIM	256	smart00488	15834617,NP_000391
2068	119540	Disease	p.Arg112His	126340.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	TRICHOTHIODYSTROPHY||XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	OMIM	44	pfam06733	15834617,NP_000391
2068	119540	Disease	p.Arg112His	126340.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	TRICHOTHIODYSTROPHY||XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	OMIM	249	COG1199	15834617,NP_000391
2068	195947407	Disease	p.Arg112His	126340.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	TRICHOTHIODYSTROPHY||XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	OMIM	311	smart00489	NULL
2068	195947407	Disease	p.Arg112His	126340.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	TRICHOTHIODYSTROPHY||XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	OMIM	311	smart00488	NULL
2068	195947407	Disease	p.Arg112His	126340.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	TRICHOTHIODYSTROPHY||XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	OMIM	73	pfam06733	NULL
2068	119540	Disease	p.Arg658Cys	126340.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	TRICHOTHIODYSTROPHY	OMIM	157	smart00491	15834617,NP_000391
2068	119540	Disease	p.Arg658Cys	126340.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	TRICHOTHIODYSTROPHY	OMIM	129	smart00492	15834617,NP_000391
2068	119540	Disease	p.Arg658Cys	126340.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	TRICHOTHIODYSTROPHY	OMIM	991	COG1199	15834617,NP_000391
2068	195947407	Disease	p.Arg658Cys	126340.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	TRICHOTHIODYSTROPHY	OMIM	No Domain	N/A	NULL
2068	119540	Disease	p.Gly713Arg	126340.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	TRICHOTHIODYSTROPHY	OMIM	1064	COG1199	15834617,NP_000391
2068	195947407	Disease	p.Gly713Arg	126340.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	TRICHOTHIODYSTROPHY	OMIM	No Domain	N/A	NULL
2068	119540	Disease	p.Asp681Asn	126340.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	CEREBROOCULOFACIOSKELETAL SYNDROME 2	OMIM	180	smart00491	15834617,NP_000391
2068	119540	Disease	p.Asp681Asn	126340.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	CEREBROOCULOFACIOSKELETAL SYNDROME 2	OMIM	152	smart00492	15834617,NP_000391
2068	119540	Disease	p.Asp681Asn	126340.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	CEREBROOCULOFACIOSKELETAL SYNDROME 2	OMIM	1015	COG1199	15834617,NP_000391
2068	195947407	Disease	p.Asp681Asn	126340.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	CEREBROOCULOFACIOSKELETAL SYNDROME 2	OMIM	No Domain	N/A	NULL
2068	119540	Disease	p.Arg616Trp	126340.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	CEREBROOCULOFACIOSKELETAL SYNDROME||XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	OMIM	94	smart00491	15834617,NP_000391
2068	119540	Disease	p.Arg616Trp	126340.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	CEREBROOCULOFACIOSKELETAL SYNDROME||XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	OMIM	77	smart00492	15834617,NP_000391
2068	119540	Disease	p.Arg616Trp	126340.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	CEREBROOCULOFACIOSKELETAL SYNDROME||XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	OMIM	936	COG1199	15834617,NP_000391
2068	195947407	Disease	p.Arg616Trp	126340.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	CEREBROOCULOFACIOSKELETAL SYNDROME||XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	OMIM	No Domain	N/A	NULL
2068	119540	Disease	p.Leu485Pro	126340.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	OMIM	775	COG1199	15834617,NP_000391
2068	195947407	Disease	p.Leu485Pro	126340.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	OMIM	No Domain	N/A	NULL
2068	119540	Disease	p.Arg722Trp	126340.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	TRICHOTHIODYSTROPHY	OMIM	No Domain	N/A	15834617,NP_000391
2068	195947407	Disease	p.Arg722Trp	126340.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	TRICHOTHIODYSTROPHY	OMIM	No Domain	N/A	NULL
2068	119540	Disease	p.Arg683Trp	126340.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	OMIM	182	smart00491	15834617,NP_000391
2068	119540	Disease	p.Arg683Trp	126340.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	OMIM	154	smart00492	15834617,NP_000391
2068	119540	Disease	p.Arg683Trp	126340.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	OMIM	1017	COG1199	15834617,NP_000391
2068	195947407	Disease	p.Arg683Trp	126340.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126340	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	OMIM	No Domain	N/A	NULL
5092	47606444	Disease	p.Cys82Arg	126090.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126090	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D	OMIM	84	COG2154	4557831,NP_000272
5092	47606444	Disease	p.Cys82Arg	126090.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126090	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D	OMIM	130	pfam01329	4557831,NP_000272
5092	47606444	Disease	p.Cys82Arg	126090.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126090	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D	OMIM	67	cd00488	4557831,NP_000272
5092	47606444	Disease	p.Cys82Arg	126090.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126090	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D	OMIM	61	cd00914	4557831,NP_000272
5092	47606444	Disease	p.Cys82Arg	126090.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126090	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D	OMIM	63	cd00913	4557831,NP_000272
5092	47606444	Disease	p.Thr78Ile	126090.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126090	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D	OMIM	80	COG2154	4557831,NP_000272
5092	47606444	Disease	p.Thr78Ile	126090.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126090	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D	OMIM	126	pfam01329	4557831,NP_000272
5092	47606444	Disease	p.Thr78Ile	126090.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126090	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D	OMIM	63	cd00488	4557831,NP_000272
5092	47606444	Disease	p.Thr78Ile	126090.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126090	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D	OMIM	57	cd00914	4557831,NP_000272
5092	47606444	Disease	p.Thr78Ile	126090.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126090	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D	OMIM	59	cd00913	4557831,NP_000272
1723	56405372	Disease	p.Arg346Trp	126064.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	355	pfam01180	45006951,NP_001352
1723	56405372	Disease	p.Arg346Trp	126064.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	357	COG0167	45006951,NP_001352
1723	56405372	Disease	p.Arg346Trp	126064.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	334	cd02810	45006951,NP_001352
1723	56405372	Disease	p.Arg346Trp	126064.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	385	cd04741	45006951,NP_001352
1723	56405372	Disease	p.Arg346Trp	126064.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	456	cd04738	45006951,NP_001352
1723	56405372	Disease	p.Arg346Trp	126064.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	302	cd02940	45006951,NP_001352
1723	56405372	Disease	p.Arg346Trp	126064.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	285	cd04740	45006951,NP_001352
1723	56405372	Disease	p.Arg135Cys	126064.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	60	pfam01180	45006951,NP_001352
1723	56405372	Disease	p.Arg135Cys	126064.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	101	COG0167	45006951,NP_001352
1723	56405372	Disease	p.Arg135Cys	126064.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	61	cd02810	45006951,NP_001352
1723	56405372	Disease	p.Arg135Cys	126064.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	58	cd04741	45006951,NP_001352
1723	56405372	Disease	p.Arg135Cys	126064.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	115	cd04738	45006951,NP_001352
1723	56405372	Disease	p.Arg135Cys	126064.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	62	cd02940	45006951,NP_001352
1723	56405372	Disease	p.Arg135Cys	126064.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	66	cd04740	45006951,NP_001352
1723	56405372	Disease	p.Gly19Glu	126064.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	No Domain	N/A	45006951,NP_001352
1723	56405372	Disease	p.Gly152Arg	126064.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	77	pfam01180	45006951,NP_001352
1723	56405372	Disease	p.Gly152Arg	126064.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	118	COG0167	45006951,NP_001352
1723	56405372	Disease	p.Gly152Arg	126064.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	112	cd02810	45006951,NP_001352
1723	56405372	Disease	p.Gly152Arg	126064.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	93	cd04741	45006951,NP_001352
1723	56405372	Disease	p.Gly152Arg	126064.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	132	cd04738	45006951,NP_001352
1723	56405372	Disease	p.Gly152Arg	126064.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	82	cd02940	45006951,NP_001352
1723	56405372	Disease	p.Gly152Arg	126064.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	83	cd04740	45006951,NP_001352
1723	56405372	Disease	p.Gly202Ala	126064.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	156	pfam01180	45006951,NP_001352
1723	56405372	Disease	p.Gly202Ala	126064.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	197	COG0167	45006951,NP_001352
1723	56405372	Disease	p.Gly202Ala	126064.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	164	cd02810	45006951,NP_001352
1723	56405372	Disease	p.Gly202Ala	126064.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	154	cd04741	45006951,NP_001352
1723	56405372	Disease	p.Gly202Ala	126064.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	235	cd04738	45006951,NP_001352
1723	56405372	Disease	p.Gly202Ala	126064.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	134	cd02940	45006951,NP_001352
1723	56405372	Disease	p.Gly202Ala	126064.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	125	cd04740	45006951,NP_001352
1723	56405372	Disease	p.Gly202Asp	126064.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	156	pfam01180	45006951,NP_001352
1723	56405372	Disease	p.Gly202Asp	126064.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	197	COG0167	45006951,NP_001352
1723	56405372	Disease	p.Gly202Asp	126064.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	164	cd02810	45006951,NP_001352
1723	56405372	Disease	p.Gly202Asp	126064.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	154	cd04741	45006951,NP_001352
1723	56405372	Disease	p.Gly202Asp	126064.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	235	cd04738	45006951,NP_001352
1723	56405372	Disease	p.Gly202Asp	126064.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	134	cd02940	45006951,NP_001352
1723	56405372	Disease	p.Gly202Asp	126064.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	125	cd04740	45006951,NP_001352
1723	56405372	Disease	p.Arg244Trp	126064.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	201	pfam01180	45006951,NP_001352
1723	56405372	Disease	p.Arg244Trp	126064.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	244	COG0167	45006951,NP_001352
1723	56405372	Disease	p.Arg244Trp	126064.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	217	cd02810	45006951,NP_001352
1723	56405372	Disease	p.Arg244Trp	126064.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	222	cd04741	45006951,NP_001352
1723	56405372	Disease	p.Arg244Trp	126064.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	280	cd04738	45006951,NP_001352
1723	56405372	Disease	p.Arg244Trp	126064.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	188_G	cd02940	45006951,NP_001352
1723	56405372	Disease	p.Arg244Trp	126064.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	169	cd04740	45006951,NP_001352
1723	56405372	Disease	p.Arg199Cys	126064.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	153	pfam01180	45006951,NP_001352
1723	56405372	Disease	p.Arg199Cys	126064.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	194	COG0167	45006951,NP_001352
1723	56405372	Disease	p.Arg199Cys	126064.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	161	cd02810	45006951,NP_001352
1723	56405372	Disease	p.Arg199Cys	126064.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	151	cd04741	45006951,NP_001352
1723	56405372	Disease	p.Arg199Cys	126064.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	232	cd04738	45006951,NP_001352
1723	56405372	Disease	p.Arg199Cys	126064.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	131	cd02940	45006951,NP_001352
1723	56405372	Disease	p.Arg199Cys	126064.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=126064	MILLER SYNDROME	OMIM	122	cd04740	45006951,NP_001352
1829	148876773	Disease	p.Arg48His	125671.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125671	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10	OMIM	No Domain	N/A	116534898,NP_001934
1829	148876773	Disease	p.Arg45Gln	125671.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125671	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10	OMIM	No Domain	N/A	116534898,NP_001934
1829	148876773	Disease	p.Cys506Tyr	125671.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125671	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10	OMIM	194	cd00031	116534898,NP_001934
1829	148876773	Disease	p.Gly811Cys	125671.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125671	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10	OMIM	No Domain	N/A	116534898,NP_001934
1829	148876773	Disease	p.Asn266Ser	125671.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125671	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10	OMIM	153	smart00112	116534898,NP_001934
1829	148876773	Disease	p.Asn266Ser	125671.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125671	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10	OMIM	173	cd00031	116534898,NP_001934
1829	148876773	Disease	p.Glu331Lys	125671.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125671	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10	OMIM	63	pfam00028	116534898,NP_001934
1829	148876773	Disease	p.Glu331Lys	125671.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125671	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10	OMIM	294	cd00031	116534898,NP_001934
1829	148876773	Disease	p.Glu331Lys	125671.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125671	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10	OMIM	60	smart00112	116534898,NP_001934
1829	148876773	Disease	p.Val55Met	125671.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125671	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10||CARDIOMYOPATHY, DILATED, 1BB, SUSCEPTIBILITY TO	OMIM	2	pfam00028	116534898,NP_001934
1674	6686280	Disease	p.Ala337Pro	125660.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125660	MYOPATHY, DESMIN-RELATED	OMIM	301	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Ala360Pro	125660.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125660	MYOPATHY, DESMIN-RELATED	OMIM	328	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Asn393Ile	125660.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125660	MYOPATHY, DESMIN-RELATED	OMIM	361	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Ile451Met	125660.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125660	CARDIOMYOPATHY, DILATED, 1I	OMIM	No Domain	N/A	55749932,NP_001918
1674	6686280	Disease	p.Leu345Pro	125660.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125660	MYOPATHY, DESMIN-RELATED	OMIM	313	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Arg406Trp	125660.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125660	MYOPATHY, DESMIN-RELATED	OMIM	374	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Leu385Pro	125660.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125660	MYOPATHY, DESMIN-RELATED	OMIM	353	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Gln389Pro	125660.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125660	MYOPATHY, DESMIN-RELATED	OMIM	357	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Thr442Ile	125660.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125660	MYOPATHY, DESMIN-RELATED	OMIM	No Domain	N/A	55749932,NP_001918
1674	6686280	Disease	p.Arg350Pro	125660.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125660	SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE	OMIM	318	pfam00038	55749932,NP_001918
1834	215273974	Disease	p.Ser299Arg	125647.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125647	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8	OMIM	No Domain	N/A	89001107,NP_055023
1834	215273974	Disease	p.Asn287Lys	125647.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125647	SKIN FRAGILITY-WOOLLY HAIR SYNDROME	OMIM	No Domain	N/A	89001107,NP_055023
1834	215273974	Disease	p.Arg2366Cys	125647.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125647	SKIN FRAGILITY-WOOLLY HAIR SYNDROME	OMIM	No Domain	N/A	89001107,NP_055023
1834	215273974	Disease	p.Val30Met	125647.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125647	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8	OMIM	No Domain	N/A	89001107,NP_055023
1834	215273974	Disease	p.Arg2834His	125647.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125647	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8	OMIM	No Domain	N/A	89001107,NP_055023
1773	118919	Disease	p.Gln244Arg	125505.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125505	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO	OMIM	263	smart00476	21361254,NP_005214
1773	118919	Disease	p.Gln244Arg	125505.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125505	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO	OMIM	572	pfam03372	21361254,NP_005214
1834	215273974	Disease	p.Pro17Thr	125485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125485	DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39, WITH DENTINOGENESIS IMPERFECTA 1	OMIM	No Domain	N/A	89001107,NP_055023
1834	215273974	Disease	p.Val18Phe	125485.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125485	DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39, WITH DENTINOGENESIS IMPERFECTA 1||DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II||DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III	OMIM	No Domain	N/A	89001107,NP_055023
1834	215273974	Disease	p.Asp6Tyr	125485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125485	DENTIN DYSPLASIA, TYPE II	OMIM	No Domain	N/A	89001107,NP_055023
1834	215273974	Disease	p.Arg68Trp	125485.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125485	DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II	OMIM	No Domain	N/A	89001107,NP_055023
1834	215273974	Disease	p.Ala15Val	125485.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125485	DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II	OMIM	No Domain	N/A	89001107,NP_055023
210	122833	Disease	p.Gly133Arg	125270.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC	OMIM	129	cd04824	189083849,NP_000022
210	122833	Disease	p.Gly133Arg	125270.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC	OMIM	141	COG0113	189083849,NP_000022
210	122833	Disease	p.Gly133Arg	125270.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC	OMIM	134	cd04823	189083849,NP_000022
210	122833	Disease	p.Gly133Arg	125270.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC	OMIM	131	cd00384	189083849,NP_000022
210	122833	Disease	p.Gly133Arg	125270.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC	OMIM	148	pfam00490	189083849,NP_000022
210	122833	Disease	p.Val275Met	125270.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC	OMIM	271	cd04824	189083849,NP_000022
210	122833	Disease	p.Val275Met	125270.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC	OMIM	293	COG0113	189083849,NP_000022
210	122833	Disease	p.Val275Met	125270.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC	OMIM	297	cd04823	189083849,NP_000022
210	122833	Disease	p.Val275Met	125270.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC	OMIM	300	cd00384	189083849,NP_000022
210	122833	Disease	p.Val275Met	125270.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC	OMIM	362	pfam00490	189083849,NP_000022
210	122833	Disease	p.Lys59Asn	125270.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	AMINOLEVULINATE DEHYDRATASE, ALAD*1/ALAD*2 POLYMORPHISM	OMIM	52	cd04824	189083849,NP_000022
210	122833	Disease	p.Lys59Asn	125270.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	AMINOLEVULINATE DEHYDRATASE, ALAD*1/ALAD*2 POLYMORPHISM	OMIM	65	COG0113	189083849,NP_000022
210	122833	Disease	p.Lys59Asn	125270.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	AMINOLEVULINATE DEHYDRATASE, ALAD*1/ALAD*2 POLYMORPHISM	OMIM	57	cd04823	189083849,NP_000022
210	122833	Disease	p.Lys59Asn	125270.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	AMINOLEVULINATE DEHYDRATASE, ALAD*1/ALAD*2 POLYMORPHISM	OMIM	55	cd00384	189083849,NP_000022
210	122833	Disease	p.Lys59Asn	125270.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	AMINOLEVULINATE DEHYDRATASE, ALAD*1/ALAD*2 POLYMORPHISM	OMIM	66	pfam00490	189083849,NP_000022
210	122833	Disease	p.Arg240Trp	125270.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC	OMIM	236	cd04824	189083849,NP_000022
210	122833	Disease	p.Arg240Trp	125270.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC	OMIM	258	COG0113	189083849,NP_000022
210	122833	Disease	p.Arg240Trp	125270.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC	OMIM	263	cd04823	189083849,NP_000022
210	122833	Disease	p.Arg240Trp	125270.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC	OMIM	265	cd00384	189083849,NP_000022
210	122833	Disease	p.Arg240Trp	125270.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC	OMIM	323	pfam00490	189083849,NP_000022
210	122833	Disease	p.Ala274Thr	125270.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC	OMIM	270	cd04824	189083849,NP_000022
210	122833	Disease	p.Ala274Thr	125270.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC	OMIM	292	COG0113	189083849,NP_000022
210	122833	Disease	p.Ala274Thr	125270.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC	OMIM	296	cd04823	189083849,NP_000022
210	122833	Disease	p.Ala274Thr	125270.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC	OMIM	299	cd00384	189083849,NP_000022
210	122833	Disease	p.Ala274Thr	125270.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC	OMIM	361	pfam00490	189083849,NP_000022
210	122833	Disease	p.Phe12Leu	125270.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC, DIGENIC	OMIM	5	cd04824	189083849,NP_000022
210	122833	Disease	p.Phe12Leu	125270.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC, DIGENIC	OMIM	15	COG0113	189083849,NP_000022
210	122833	Disease	p.Phe12Leu	125270.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125270	PORPHYRIA, ACUTE HEPATIC, DIGENIC	OMIM	11	pfam00490	189083849,NP_000022
1340	117115	Disease	p.Arg19His	124089.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124089	CYTOCHROME c OXIDASE DEFICIENCY	OMIM	12	cd00926	4502985,NP_001854
1585	3041666	Disease	p.Arg181Trp	124080.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124080	CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY	OMIM	151	pfam00067	119829183,NP_000489
1585	3041666	Disease	p.Arg181Trp	124080.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124080	CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY	OMIM	181	COG2124	119829183,NP_000489
1585	3041666	Disease	p.Val386Ala	124080.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124080	CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY	OMIM	417	pfam00067	119829183,NP_000489
1585	3041666	Disease	p.Val386Ala	124080.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124080	CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY	OMIM	418	COG2124	119829183,NP_000489
1585	3041666	Disease	p.Leu461Pro	124080.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124080	CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY	OMIM	516	pfam00067	119829183,NP_000489
1585	3041666	Disease	p.Leu461Pro	124080.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124080	CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY	OMIM	524	COG2124	119829183,NP_000489
1585	3041666	Disease	p.Thr185Ile	124080.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124080	CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY	OMIM	155	pfam00067	119829183,NP_000489
1585	3041666	Disease	p.Thr185Ile	124080.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124080	CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY	OMIM	185	COG2124	119829183,NP_000489
79742	193804856	Disease	p.Thr185Ile	124080.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124080	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Thr185Ile	124080.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124080	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
1585	3041666	Disease	p.Thr498Ala	124080.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124080	CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY	OMIM	558	pfam00067	119829183,NP_000489
1585	3041666	Disease	p.Thr498Ala	124080.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124080	CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY	OMIM	565	COG2124	119829183,NP_000489
1565	40805836	Disease	p.Pro34Ser	124030.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124030	DEBRISOQUINE, POOR METABOLISM OF	OMIM	4	COG2124	NULL
1565	68509921	Disease	p.Pro34Ser	124030.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124030	DEBRISOQUINE, POOR METABOLISM OF	OMIM	4	COG2124	NULL
1565	40805836	Disease	p.Arg296Cys	124030.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124030	DEBRISOQUINE, ULTRARAPID METABOLISM OF	OMIM	323	pfam00067	NULL
1565	40805836	Disease	p.Arg296Cys	124030.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124030	DEBRISOQUINE, ULTRARAPID METABOLISM OF	OMIM	326	COG2124	NULL
1565	68509921	Disease	p.Arg296Cys	124030.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124030	DEBRISOQUINE, ULTRARAPID METABOLISM OF	OMIM	385	pfam00067	NULL
1565	68509921	Disease	p.Arg296Cys	124030.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124030	DEBRISOQUINE, ULTRARAPID METABOLISM OF	OMIM	385	COG2124	NULL
1557	4503219	Disease	p.Arg433Trp	124020.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124020	MEPHENYTOIN, POOR METABOLISM OF	OMIM	503	pfam00067	NULL
1557	4503219	Disease	p.Arg433Trp	124020.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124020	MEPHENYTOIN, POOR METABOLISM OF	OMIM	510	COG2124	NULL
1557	4503219	Disease	p.Met1Val	124020.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124020	MEPHENYTOIN, POOR METABOLISM OF	OMIM	No Domain	N/A	NULL
7417	158518391	Disease	p.Val492Glu	124015.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS	OMIM	No Domain	N/A	296317339,NP_001171752|42476281,NP_003366
7417	296317337	Disease	p.Val492Glu	124015.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS	OMIM	No Domain	N/A	NULL
7417	158518391	Disease	p.Val492Glu	124015.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS	OMIM	No Domain	N/A	296317339,NP_001171752|42476281,NP_003366
7417	158518391	Disease	p.Ala287Pro	124015.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS	OMIM	304	cd07303	296317339,NP_001171752|42476281,NP_003366
7417	158518391	Disease	p.Ala287Pro	124015.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS	OMIM	330	cd07306	296317339,NP_001171752|42476281,NP_003366
7417	296317337	Disease	p.Ala287Pro	124015.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS	OMIM	289	cd07303	NULL
7417	296317337	Disease	p.Ala287Pro	124015.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS	OMIM	310	cd07306	NULL
7417	296317337	Disease	p.Ala287Pro	124015.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS	OMIM	494	pfam01459	NULL
7417	158518391	Disease	p.Ala287Pro	124015.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS	OMIM	304	cd07303	296317339,NP_001171752|42476281,NP_003366
7417	158518391	Disease	p.Ala287Pro	124015.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS	OMIM	330	cd07306	296317339,NP_001171752|42476281,NP_003366
7417	158518391	Disease	p.Cys569Tyr	124015.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	No Domain	N/A	296317339,NP_001171752|42476281,NP_003366
7417	296317337	Disease	p.Cys569Tyr	124015.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	No Domain	N/A	NULL
7417	158518391	Disease	p.Cys569Tyr	124015.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	No Domain	N/A	296317339,NP_001171752|42476281,NP_003366
7417	158518391	Disease	p.Val608Phe	124015.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	No Domain	N/A	296317339,NP_001171752|42476281,NP_003366
7417	296317337	Disease	p.Val608Phe	124015.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	No Domain	N/A	NULL
7417	158518391	Disease	p.Val608Phe	124015.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	No Domain	N/A	296317339,NP_001171752|42476281,NP_003366
7417	158518391	Disease	p.Arg457His	124015.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS||DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	No Domain	N/A	296317339,NP_001171752|42476281,NP_003366
7417	296317337	Disease	p.Arg457His	124015.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS||DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	No Domain	N/A	NULL
7417	158518391	Disease	p.Arg457His	124015.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS||DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	No Domain	N/A	296317339,NP_001171752|42476281,NP_003366
7417	158518391	Disease	p.Tyr178Asp	124015.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	189	cd07303	296317339,NP_001171752|42476281,NP_003366
7417	158518391	Disease	p.Tyr178Asp	124015.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	301	pfam01459	296317339,NP_001171752|42476281,NP_003366
7417	158518391	Disease	p.Tyr178Asp	124015.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	187	cd07306	296317339,NP_001171752|42476281,NP_003366
7417	296317337	Disease	p.Tyr178Asp	124015.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	174	cd07303	NULL
7417	296317337	Disease	p.Tyr178Asp	124015.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	171	cd07306	NULL
7417	296317337	Disease	p.Tyr178Asp	124015.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	286	pfam01459	NULL
7417	158518391	Disease	p.Tyr178Asp	124015.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	189	cd07303	296317339,NP_001171752|42476281,NP_003366
7417	158518391	Disease	p.Tyr178Asp	124015.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	301	pfam01459	296317339,NP_001171752|42476281,NP_003366
7417	158518391	Disease	p.Tyr178Asp	124015.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	187	cd07306	296317339,NP_001171752|42476281,NP_003366
7417	158518391	Disease	p.Cys566Tyr	124015.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	No Domain	N/A	296317339,NP_001171752|42476281,NP_003366
7417	296317337	Disease	p.Cys566Tyr	124015.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	No Domain	N/A	NULL
7417	158518391	Disease	p.Cys566Tyr	124015.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	No Domain	N/A	296317339,NP_001171752|42476281,NP_003366
7417	158518391	Disease	p.Ala284Pro	124015.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	301	cd07303	296317339,NP_001171752|42476281,NP_003366
7417	158518391	Disease	p.Ala284Pro	124015.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	511	pfam01459	296317339,NP_001171752|42476281,NP_003366
7417	158518391	Disease	p.Ala284Pro	124015.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	327	cd07306	296317339,NP_001171752|42476281,NP_003366
7417	296317337	Disease	p.Ala284Pro	124015.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	286	cd07303	NULL
7417	296317337	Disease	p.Ala284Pro	124015.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	307	cd07306	NULL
7417	296317337	Disease	p.Ala284Pro	124015.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	491	pfam01459	NULL
7417	158518391	Disease	p.Ala284Pro	124015.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	301	cd07303	296317339,NP_001171752|42476281,NP_003366
7417	158518391	Disease	p.Ala284Pro	124015.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	511	pfam01459	296317339,NP_001171752|42476281,NP_003366
7417	158518391	Disease	p.Ala284Pro	124015.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	327	cd07306	296317339,NP_001171752|42476281,NP_003366
79742	193804856	Disease	p.Ala284Pro	124015.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Ala284Pro	124015.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
7417	158518391	Disease	p.Tyr578Cys	124015.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS	OMIM	No Domain	N/A	296317339,NP_001171752|42476281,NP_003366
7417	296317337	Disease	p.Tyr578Cys	124015.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS	OMIM	No Domain	N/A	NULL
7417	158518391	Disease	p.Tyr578Cys	124015.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS	OMIM	No Domain	N/A	296317339,NP_001171752|42476281,NP_003366
7417	158518391	Disease	p.Gly539Arg	124015.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS||DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	No Domain	N/A	296317339,NP_001171752|42476281,NP_003366
7417	296317337	Disease	p.Gly539Arg	124015.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS||DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	No Domain	N/A	NULL
7417	158518391	Disease	p.Gly539Arg	124015.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=124015	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS||DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	OMIM	No Domain	N/A	296317339,NP_001171752|42476281,NP_003366
54205	42560196	Disease	p.Gly42Ser	123970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123970	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 4	OMIM	80	COG3474	11128019,NP_061820
54205	42560196	Disease	p.Gly42Ser	123970.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123970	THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 4	OMIM	114	pfam00034	11128019,NP_061820
3851	109255249	Disease	p.Glu449Lys	123940.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123940	WHITE SPONGE NEVUS	OMIM	309	pfam00038	NULL
1493	83700231	Disease	p.Thr17Ala	123890.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123890	HASHIMOTO THYROIDITIS, SUSCEPTIBILITY TO||THYROID-ASSOCIATED ORBITOPATHY, SUSCEPTIBILITY TO||SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO||DIABETES MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO||CELIAC DISEASE, SUSCEPTIBILITY TO, 3; INCLUDED	OMIM	No Domain	N/A	NULL
1493	27735177	Disease	p.Thr17Ala	123890.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123890	HASHIMOTO THYROIDITIS, SUSCEPTIBILITY TO||THYROID-ASSOCIATED ORBITOPATHY, SUSCEPTIBILITY TO||SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO||DIABETES MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO||CELIAC DISEASE, SUSCEPTIBILITY TO, 3; INCLUDED	OMIM	No Domain	N/A	21361212,NP_005205
3588	56757647	Disease	p.Glu47Lys	123889.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123889	HEPATITIS B VIRUS, SUSCEPTIBILITY TO	OMIM	43	pfam01108	24430215,NP_000619
5479	215273869	Disease	p.Met9Arg	123841.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123841	OSTEOGENESIS IMPERFECTA, TYPE IX	OMIM	No Domain	N/A	4758950,NP_000933
1259	239938910	Disease	p.Ser316Phe	123825.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123825	RETINITIS PIGMENTOSA 49	OMIM	189	pfam00520	71143141,NP_000078
1259	217035093	Disease	p.Ser316Phe	123825.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123825	RETINITIS PIGMENTOSA 49	OMIM	55	pfam00520	NULL
1428	2498259	Disease	p.Lys314Thr	123740.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123740	DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC	OMIM	No Domain	N/A	4503065,NP_001879
1428	62241008	Disease	p.Lys314Thr	123740.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123740	DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC	OMIM	No Domain	N/A	NULL
1427	4033688	Disease	p.Gly18Val	123730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123730	CATARACT, PROGRESSIVE POLYMORPHIC CORTICAL	OMIM	15	pfam00030	8922120,NP_060011
1427	4033688	Disease	p.Gly18Val	123730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123730	CATARACT, PROGRESSIVE POLYMORPHIC CORTICAL	OMIM	14	smart00247	8922120,NP_060011
1421	2506321	Disease	p.Arg14Cys	123690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123690	CATARACT, PUNCTATE, PROGRESSIVE JUVENILE-ONSET	OMIM	14	smart00247	13377002,NP_008822
1421	2506321	Disease	p.Arg14Cys	123690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123690	CATARACT, PUNCTATE, PROGRESSIVE JUVENILE-ONSET	OMIM	15	pfam00030	13377002,NP_008822
1421	2506321	Disease	p.Arg58His	123690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123690	CATARACT, CRYSTALLINE ACULEIFORM	OMIM	86	smart00247	13377002,NP_008822
1421	2506321	Disease	p.Arg58His	123690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123690	CATARACT, CRYSTALLINE ACULEIFORM	OMIM	87	pfam00030	13377002,NP_008822
1421	2506321	Disease	p.Arg36Ser	123690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123690	CATARACT, CRYSTALLINE, JUVENILE-ONSET	OMIM	62	smart00247	13377002,NP_008822
1421	2506321	Disease	p.Arg36Ser	123690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123690	CATARACT, CRYSTALLINE, JUVENILE-ONSET	OMIM	62	pfam00030	13377002,NP_008822
1421	2506321	Disease	p.Pro23Thr	123690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123690	CATARACT, CONGENITAL LAMELLAR||CATARACT, CONGENITAL, CERULEAN TYPE, 3	OMIM	32	smart00247	13377002,NP_008822
1421	2506321	Disease	p.Pro23Thr	123690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123690	CATARACT, CONGENITAL LAMELLAR||CATARACT, CONGENITAL, CERULEAN TYPE, 3	OMIM	26	pfam00030	13377002,NP_008822
1421	2506321	Disease	p.Pro23Ser	123690.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123690	CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT	OMIM	32	smart00247	13377002,NP_008822
1421	2506321	Disease	p.Pro23Ser	123690.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123690	CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT	OMIM	26	pfam00030	13377002,NP_008822
1420	117464	Disease	p.Thr5Pro	123680.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123680	CATARACT, COPPOCK-LIKE	OMIM	3	pfam00030	10518338,NP_066269
1420	117464	Disease	p.Thr5Pro	123680.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123680	CATARACT, COPPOCK-LIKE	OMIM	3	smart00247	10518338,NP_066269
1420	117464	Disease	p.Arg168Trp	123680.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123680	CATARACT, CONGENITAL LAMELLAR	OMIM	144	smart00247	10518338,NP_066269
1420	117464	Disease	p.Arg168Trp	123680.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123680	CATARACT, CONGENITAL LAMELLAR	OMIM	144	pfam00030	10518338,NP_066269
1413	2506318	Disease	p.Phe94Ser	123631.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123631	CATARACT, LAMELLAR 2	OMIM	143	smart00247	4503059,NP_001877
1413	2506318	Disease	p.Phe94Ser	123631.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123631	CATARACT, LAMELLAR 2	OMIM	143	pfam00030	4503059,NP_001877
1413	2506318	Disease	p.Leu69Pro	123631.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123631	MICROPHTHALMIA, ISOLATED, WITH CATARACT 4	OMIM	86	smart00247	4503059,NP_001877
1413	2506318	Disease	p.Leu69Pro	123631.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123631	MICROPHTHALMIA, ISOLATED, WITH CATARACT 4	OMIM	87	pfam00030	4503059,NP_001877
1417	311033476	Disease	p.Gly165Arg	123630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123630	CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2	OMIM	79	pfam00030	4758074,NP_004067
1417	311033476	Disease	p.Gly165Arg	123630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123630	CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2	OMIM	77	smart00247	4758074,NP_004067
1410	117385	Disease	p.Arg120Gly	123590.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123590	ALPHA-B CRYSTALLINOPATHY WITH CATARACT	OMIM	62	cd06480	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	123590.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123590	ALPHA-B CRYSTALLINOPATHY WITH CATARACT	OMIM	151	COG0071	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	123590.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123590	ALPHA-B CRYSTALLINOPATHY WITH CATARACT	OMIM	54	cd06478	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	123590.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123590	ALPHA-B CRYSTALLINOPATHY WITH CATARACT	OMIM	54	cd06477	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	123590.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123590	ALPHA-B CRYSTALLINOPATHY WITH CATARACT	OMIM	142	cd06464	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	123590.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123590	ALPHA-B CRYSTALLINOPATHY WITH CATARACT	OMIM	68	pfam00011	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	123590.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123590	ALPHA-B CRYSTALLINOPATHY WITH CATARACT	OMIM	54	cd06498	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	123590.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123590	ALPHA-B CRYSTALLINOPATHY WITH CATARACT	OMIM	57	cd06497	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	123590.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123590	ALPHA-B CRYSTALLINOPATHY WITH CATARACT	OMIM	57	cd06475	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	123590.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123590	ALPHA-B CRYSTALLINOPATHY WITH CATARACT	OMIM	52	cd06479	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	123590.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123590	ALPHA-B CRYSTALLINOPATHY WITH CATARACT	OMIM	60	cd06481	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	123590.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123590	ALPHA-B CRYSTALLINOPATHY WITH CATARACT	OMIM	55	cd06476	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	123590.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123590	ALPHA-B CRYSTALLINOPATHY WITH CATARACT	OMIM	78	cd06526	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	123590.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123590	ALPHA-B CRYSTALLINOPATHY WITH CATARACT	OMIM	153	cd00298	4503057,NP_001876
1409	1706112	Disease	p.Arg116Cys	123580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, ZONULAR CENTRAL NUCLEAR||CATARACT, AUTOSOMAL DOMINANT NUCLEAR, WITH IRIS COLOBOMA	OMIM	57	cd06497	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	123580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, ZONULAR CENTRAL NUCLEAR||CATARACT, AUTOSOMAL DOMINANT NUCLEAR, WITH IRIS COLOBOMA	OMIM	57	cd06475	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	123580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, ZONULAR CENTRAL NUCLEAR||CATARACT, AUTOSOMAL DOMINANT NUCLEAR, WITH IRIS COLOBOMA	OMIM	78	cd06526	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	123580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, ZONULAR CENTRAL NUCLEAR||CATARACT, AUTOSOMAL DOMINANT NUCLEAR, WITH IRIS COLOBOMA	OMIM	54	cd06478	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	123580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, ZONULAR CENTRAL NUCLEAR||CATARACT, AUTOSOMAL DOMINANT NUCLEAR, WITH IRIS COLOBOMA	OMIM	54	cd06477	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	123580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, ZONULAR CENTRAL NUCLEAR||CATARACT, AUTOSOMAL DOMINANT NUCLEAR, WITH IRIS COLOBOMA	OMIM	142	cd06464	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	123580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, ZONULAR CENTRAL NUCLEAR||CATARACT, AUTOSOMAL DOMINANT NUCLEAR, WITH IRIS COLOBOMA	OMIM	68	pfam00011	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	123580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, ZONULAR CENTRAL NUCLEAR||CATARACT, AUTOSOMAL DOMINANT NUCLEAR, WITH IRIS COLOBOMA	OMIM	54	cd06498	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	123580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, ZONULAR CENTRAL NUCLEAR||CATARACT, AUTOSOMAL DOMINANT NUCLEAR, WITH IRIS COLOBOMA	OMIM	153	cd00298	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	123580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, ZONULAR CENTRAL NUCLEAR||CATARACT, AUTOSOMAL DOMINANT NUCLEAR, WITH IRIS COLOBOMA	OMIM	60	cd06481	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	123580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, ZONULAR CENTRAL NUCLEAR||CATARACT, AUTOSOMAL DOMINANT NUCLEAR, WITH IRIS COLOBOMA	OMIM	55	cd06476	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	123580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, ZONULAR CENTRAL NUCLEAR||CATARACT, AUTOSOMAL DOMINANT NUCLEAR, WITH IRIS COLOBOMA	OMIM	52	cd06479	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	123580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, ZONULAR CENTRAL NUCLEAR||CATARACT, AUTOSOMAL DOMINANT NUCLEAR, WITH IRIS COLOBOMA	OMIM	62	cd06480	4503055,NP_000385
1409	1706112	Disease	p.Arg49Cys	123580.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, AUTOSOMAL DOMINANT NUCLEAR	OMIM	58	pfam00525	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	123580.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES, WITH MICROCORNEA	OMIM	57	cd06497	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	123580.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES, WITH MICROCORNEA	OMIM	57	cd06475	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	123580.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES, WITH MICROCORNEA	OMIM	78	cd06526	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	123580.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES, WITH MICROCORNEA	OMIM	54	cd06478	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	123580.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES, WITH MICROCORNEA	OMIM	54	cd06477	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	123580.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES, WITH MICROCORNEA	OMIM	142	cd06464	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	123580.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES, WITH MICROCORNEA	OMIM	68	pfam00011	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	123580.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES, WITH MICROCORNEA	OMIM	54	cd06498	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	123580.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES, WITH MICROCORNEA	OMIM	153	cd00298	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	123580.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES, WITH MICROCORNEA	OMIM	60	cd06481	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	123580.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES, WITH MICROCORNEA	OMIM	55	cd06476	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	123580.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES, WITH MICROCORNEA	OMIM	52	cd06479	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	123580.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123580	CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES, WITH MICROCORNEA	OMIM	62	cd06480	4503055,NP_000385
4488	311033429	Disease	p.Pro148His	123101.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123101	CRANIOSYNOSTOSIS, TYPE 2	OMIM	57	COG5576	27886557,NP_002440
4488	311033429	Disease	p.Pro148His	123101.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123101	CRANIOSYNOSTOSIS, TYPE 2	OMIM	6	cd00086	27886557,NP_002440
4488	311033429	Disease	p.Pro148His	123101.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123101	CRANIOSYNOSTOSIS, TYPE 2	OMIM	6	smart00389	27886557,NP_002440
4488	311033429	Disease	p.Pro148His	123101.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123101	CRANIOSYNOSTOSIS, TYPE 2	OMIM	6	pfam00046	27886557,NP_002440
4488	311033429	Disease	p.Arg172His	123101.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123101	PARIETAL FORAMINA 1	OMIM	81	COG5576	27886557,NP_002440
4488	311033429	Disease	p.Arg172His	123101.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123101	PARIETAL FORAMINA 1	OMIM	41	cd00086	27886557,NP_002440
4488	311033429	Disease	p.Arg172His	123101.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123101	PARIETAL FORAMINA 1	OMIM	49	smart00389	27886557,NP_002440
4488	311033429	Disease	p.Arg172His	123101.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123101	PARIETAL FORAMINA 1	OMIM	35	pfam00046	27886557,NP_002440
1548	189339233	Disease	p.Leu160His	122720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122720	COUMARIN, POOR METABOLISM OF||NICOTINE, POOR METABOLISM OF||CYP2A6, V1, CYPA6*2	OMIM	171	COG2124	NULL
1548	189339233	Disease	p.Leu160His	122720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122720	COUMARIN, POOR METABOLISM OF||NICOTINE, POOR METABOLISM OF||CYP2A6, V1, CYPA6*2	OMIM	142	pfam00067	NULL
1548	189339233	Disease	p.Ser224Pro	122720.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122720	TEGAFUR, POOR METABOLISM OF||CYP2A6*11	OMIM	238	COG2124	NULL
1548	189339233	Disease	p.Ser224Pro	122720.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122720	TEGAFUR, POOR METABOLISM OF||CYP2A6*11	OMIM	226	pfam00067	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	60	cd02045	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	61	cd02051	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	55	cd02053	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	66	cd02049	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	55	cd02057	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	55	cd02044	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	55	cd02059	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	55	cd02058	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	69	cd02052	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	54	cd02048	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	59	cd02043	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	76	pfam00079	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	57	smart00093	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	55	cd02055	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	67	cd00172	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	53	cd02050	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	55	cd02056	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	58	cd02054	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	106	COG4826	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	57	cd02046	NULL
866	73858564	Disease	p.Leu93His	122500.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	131	cd02047	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	345	cd02045	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	387	cd02051	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	319	cd02053	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	348	cd02049	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	337	cd02057	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	352	cd02044	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	380	cd02059	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	374	cd02058	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	342	cd02052	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	338	cd02048	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	371	cd02043	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	784	pfam00079	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	551	smart00093	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	331	cd02055	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	683	cd00172	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	327	cd02050	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	339	cd02056	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	349	cd02054	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	392	COG4826	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	334	cd02046	NULL
866	73858564	Disease	p.Asp367Asn	122500.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122500	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	OMIM	409	cd02047	NULL
2700	311033478	Disease	p.Asn63Ser	121015.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121015	CATARACT, ZONULAR PULVERULENT, 3	OMIM	62	pfam00029	22779877,NP_068773
2700	311033478	Disease	p.Asn63Ser	121015.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121015	CATARACT, ZONULAR PULVERULENT, 3	OMIM	21	smart00037	22779877,NP_068773
2700	311033478	Disease	p.Pro187Leu	121015.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121015	CATARACT, ZONULAR PULVERULENT, 3	OMIM	35	pfam10582	22779877,NP_068773
2700	311033478	Disease	p.Arg76His	121015.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121015	CATARACT, ZONULAR PULVERULENT, 3	OMIM	75	pfam00029	22779877,NP_068773
79742	193804856	Disease	p.Arg76His	121014.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121014	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Arg76His	121014.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121014	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
79742	193804856	Disease	p.Arg76His	121014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121014	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Arg76His	121014.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121014	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
2697	117706	Disease	p.Tyr17Ser	121014.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121014	OCULODENTODIGITAL DYSPLASIA	OMIM	16	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Ser18Pro	121014.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121014	OCULODENTODIGITAL DYSPLASIA	OMIM	17	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Gly21Arg	121014.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121014	OCULODENTODIGITAL DYSPLASIA	OMIM	20	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Gly22Glu	121014.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121014	OCULODENTODIGITAL DYSPLASIA	OMIM	21	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Gly143Ser	121014.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121014	SYNDACTYLY, TYPE III	OMIM	No Domain	N/A	4504001,NP_000156
2697	117706	Disease	p.Val96Met	121014.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121014	OCULODENTODIGITAL DYSPLASIA	OMIM	109	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Arg362Gln	121014.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121014	HYPOPLASTIC LEFT HEART SYNDROME||ATRIOVENTRICULAR SEPTAL DEFECT	OMIM	No Domain	N/A	4504001,NP_000156
2697	117706	Disease	p.Arg376Gln	121014.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121014	HYPOPLASTIC LEFT HEART SYNDROME||ATRIOVENTRICULAR SEPTAL DEFECT	OMIM	No Domain	N/A	4504001,NP_000156
2697	117706	Disease	p.His194Pro	121014.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121014	OCULODENTODIGITAL DYSPLASIA	OMIM	36	pfam10582	4504001,NP_000156
2697	117706	Disease	p.Leu11Pro	121014.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121014	OCULODENTODIGITAL DYSPLASIA	OMIM	9	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Arg76His	121014.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121014	HALLERMANN-STREIFF SYNDROME	OMIM	75	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Arg76Ser	121014.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121014	OCULODENTODIGITAL DYSPLASIA	OMIM	75	pfam00029	4504001,NP_000156
2702	8928556	Disease	p.Ala96Ser	121013.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121013	ATRIAL FIBRILLATION	OMIM	109	pfam00029	6631083,NP_005257|32483412,NP_859054
2702	8928556	Disease	p.Ala96Ser	121013.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121013	ATRIAL FIBRILLATION	OMIM	109	pfam00029	6631083,NP_005257|32483412,NP_859054
2702	8928556	Disease	p.Pro88Ser	121013.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121013	ATRIAL FIBRILLATION, SOMATIC	OMIM	87	pfam00029	6631083,NP_005257|32483412,NP_859054
2702	8928556	Disease	p.Pro88Ser	121013.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121013	ATRIAL FIBRILLATION, SOMATIC	OMIM	87	pfam00029	6631083,NP_005257|32483412,NP_859054
2706	77416855	Disease	p.Met34Thr	121011.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	DEAFNESS, AUTOSOMAL RECESSIVE 1A	OMIM	34	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Trp77Arg	121011.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	DEAFNESS, AUTOSOMAL RECESSIVE 1A	OMIM	77	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Arg184Pro	121011.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	DEAFNESS, AUTOSOMAL RECESSIVE 1A	OMIM	45	pfam10582	42558283,NP_003995
2706	77416855	Disease	p.Arg143Trp	121011.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	DEAFNESS, AUTOSOMAL RECESSIVE 1A	OMIM	No Domain	N/A	42558283,NP_003995
2706	77416855	Disease	p.Arg75Trp	121011.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	DEAFNESS, AUTOSOMAL DOMINANT 3A	OMIM	75	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Asp66His	121011.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	VOHWINKEL SYNDROME	OMIM	25	smart00037	42558283,NP_003995
2706	77416855	Disease	p.Asp66His	121011.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	VOHWINKEL SYNDROME	OMIM	66	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Gly59Ala	121011.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	KERATODERMA, PALMOPLANTAR, WITH DEAFNESS	OMIM	18	smart00037	42558283,NP_003995
2706	77416855	Disease	p.Gly59Ala	121011.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	KERATODERMA, PALMOPLANTAR, WITH DEAFNESS	OMIM	59	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Leu90Pro	121011.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	DEAFNESS, AUTOSOMAL RECESSIVE 1A	OMIM	100	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Arg143Gln	121011.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	DEAFNESS, AUTOSOMAL DOMINANT 3A||DEAFNESS, AUTOSOMAL RECESSIVE 1A	OMIM	No Domain	N/A	42558283,NP_003995
2706	77416855	Disease	p.Cys202Phe	121011.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	DEAFNESS, AUTOSOMAL DOMINANT 3A	OMIM	66	pfam10582	42558283,NP_003995
2706	77416855	Disease	p.Trp44Cys	121011.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	DEAFNESS, AUTOSOMAL DOMINANT 3A	OMIM	3	smart00037	42558283,NP_003995
2706	77416855	Disease	p.Trp44Cys	121011.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	DEAFNESS, AUTOSOMAL DOMINANT 3A	OMIM	44	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Asp50Asn	121011.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT||HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS	OMIM	9	smart00037	42558283,NP_003995
2706	77416855	Disease	p.Asp50Asn	121011.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT||HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS	OMIM	50	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Gly12Arg	121011.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME	OMIM	12	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Ser17Phe	121011.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME	OMIM	17	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Val37Ile	121011.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	DEAFNESS, AUTOSOMAL RECESSIVE 1A	OMIM	37	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Asp159Val	121011.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	DEAFNESS, AUTOSOMAL RECESSIVE 1A	OMIM	14	pfam10582	42558283,NP_003995
2706	77416855	Disease	p.Arg75Gln	121011.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	KERATODERMA, PALMOPLANTAR, WITH DEAFNESS||DEAFNESS, AUTOSOMAL DOMINANT 3A	OMIM	75	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Asp50Tyr	121011.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME	OMIM	9	smart00037	42558283,NP_003995
2706	77416855	Disease	p.Asp50Tyr	121011.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME	OMIM	50	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Asp179Asn	121011.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	DEAFNESS, AUTOSOMAL DOMINANT 3A	OMIM	40	pfam10582	42558283,NP_003995
2706	77416855	Disease	p.Asn54Lys	121011.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS	OMIM	13	smart00037	42558283,NP_003995
2706	77416855	Disease	p.Asn54Lys	121011.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS	OMIM	54	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Trp44Ser	121011.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	DEAFNESS, AUTOSOMAL DOMINANT 3A	OMIM	3	smart00037	42558283,NP_003995
2706	77416855	Disease	p.Trp44Ser	121011.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	DEAFNESS, AUTOSOMAL DOMINANT 3A	OMIM	44	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Val84Leu	121011.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	DEAFNESS, AUTOSOMAL RECESSIVE 1A	OMIM	84	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Gly45Glu	121011.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME	OMIM	4	smart00037	42558283,NP_003995
2706	77416855	Disease	p.Gly45Glu	121011.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME	OMIM	45	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Gly59Ser	121011.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS	OMIM	18	smart00037	42558283,NP_003995
2706	77416855	Disease	p.Gly59Ser	121011.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS	OMIM	59	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Val84Met	121011.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	DEAFNESS, AUTOSOMAL RECESSIVE 1A	OMIM	84	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.His73Arg	121011.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	KERATODERMA, PALMOPLANTAR, WITH DEAFNESS	OMIM	32	smart00037	42558283,NP_003995
2706	77416855	Disease	p.His73Arg	121011.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=121011	KERATODERMA, PALMOPLANTAR, WITH DEAFNESS	OMIM	73	pfam00029	42558283,NP_003995
1645	416877	Disease	p.Cys98Gly	120940.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120940	C9 DEFICIENCY	OMIM	118	COG0656	5453543,NP_001344
1645	416877	Disease	p.Cys98Gly	120940.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120940	C9 DEFICIENCY	OMIM	200	pfam00248	5453543,NP_001344
1645	416877	Disease	p.Cys98Gly	120940.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120940	C9 DEFICIENCY	OMIM	212	cd06660	5453543,NP_001344
1645	416877	Disease	p.Cys98Gly	120940.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120940	C9 DEFICIENCY	OMIM	111	COG1453	5453543,NP_001344
1645	416877	Disease	p.Cys98Gly	120940.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120940	C9 DEFICIENCY	OMIM	171	COG0667	5453543,NP_001344
1645	416877	Disease	p.Cys98Gly	120940.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120940	C9 DEFICIENCY	OMIM	113	COG4989	5453543,NP_001344
822	63252913	Disease	p.Ser206Pro	120920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120920	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	OMIM	205	smart00262	NULL
822	63252913	Disease	p.Ser206Pro	120920.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120920	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	OMIM	85	pfam00626	NULL
822	63252913	Disease	p.Cys1Tyr	120920.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120920	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	OMIM	No Domain	N/A	NULL
718	119370332	Disease	p.Arg102Gly	120700.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120700	MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO||C3S/C3F POLYMORPHISM	OMIM	164	pfam11974	115298678,NP_000055
718	119370332	Disease	p.Leu314Pro	120700.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120700	C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE	OMIM	No Domain	N/A	115298678,NP_000055
718	119370332	Disease	p.Arg570Gln	120700.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120700	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5	OMIM	358	pfam07703	115298678,NP_000055
718	119370332	Disease	p.Ala1072Val	120700.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120700	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5	OMIM	33	pfam07678	115298678,NP_000055
718	119370332	Disease	p.Ala1072Val	120700.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120700	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5	OMIM	785	cd00688	115298678,NP_000055
718	119370332	Disease	p.Ala1072Val	120700.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120700	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5	OMIM	83	cd02896	115298678,NP_000055
718	119370332	Disease	p.Ala1072Val	120700.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120700	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5	OMIM	108	cd02891	115298678,NP_000055
718	119370332	Disease	p.Ala1072Val	120700.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120700	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5	OMIM	75	cd02897	115298678,NP_000055
718	119370332	Disease	p.Asp1093Asn	120700.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120700	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5	OMIM	71	pfam07678	115298678,NP_000055
718	119370332	Disease	p.Asp1093Asn	120700.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120700	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5	OMIM	829	cd00688	115298678,NP_000055
718	119370332	Disease	p.Asp1093Asn	120700.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120700	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5	OMIM	107	cd02896	115298678,NP_000055
718	119370332	Disease	p.Asp1093Asn	120700.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120700	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5	OMIM	138	cd02891	115298678,NP_000055
718	119370332	Disease	p.Asp1093Asn	120700.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120700	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5	OMIM	107	cd02897	115298678,NP_000055
4318	269849668	Disease	p.Met1Lys	120361.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120361	METAPHYSEAL ANADYSPLASIA 2, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	74272287,NP_004985
4313	189217853	Disease	p.Arg101His	120360.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120360	TORG-WINCHESTER SYNDROME	OMIM	49	cd04278	NULL
4313	189217853	Disease	p.Arg101His	120360.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120360	TORG-WINCHESTER SYNDROME	OMIM	42	pfam00413	NULL
4313	189217853	Disease	p.Arg101His	120360.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120360	TORG-WINCHESTER SYNDROME	OMIM	82	smart00235	NULL
4313	116856	Disease	p.Arg101His	120360.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120360	TORG-WINCHESTER SYNDROME	OMIM	No Domain	N/A	11342666,NP_004521
4313	189217853	Disease	p.Glu404Lys	120360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120360	TORG-WINCHESTER SYNDROME	OMIM	No Domain	N/A	NULL
4313	116856	Disease	p.Glu404Lys	120360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120360	TORG-WINCHESTER SYNDROME	OMIM	343	cd04278	11342666,NP_004521
4313	116856	Disease	p.Glu404Lys	120360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120360	TORG-WINCHESTER SYNDROME	OMIM	345	pfam00413	11342666,NP_004521
4313	116856	Disease	p.Glu404Lys	120360.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120360	TORG-WINCHESTER SYNDROME	OMIM	209	cd04279	11342666,NP_004521
80781	206597445	Disease	p.Asp1437Asn	120328.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120328	KNOBLOCH SYNDROME, TYPE I	OMIM	No Domain	N/A	NULL
80781	110611235	Disease	p.Asp1437Asn	120328.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120328	KNOBLOCH SYNDROME, TYPE I	OMIM	320	pfam06482	NULL
80781	110611235	Disease	p.Asp1437Asn	120328.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120328	KNOBLOCH SYNDROME, TYPE I	OMIM	113	cd00247	NULL
80781	110611233	Disease	p.Asp1437Asn	120328.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120328	KNOBLOCH SYNDROME, TYPE I	OMIM	No Domain	N/A	NULL
1302	111118972	Disease	p.Gly175Arg	120290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	OMIM	156	pfam02210	NULL
1302	111118972	Disease	p.Gly175Arg	120290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	OMIM	344	smart00282	NULL
1302	111118972	Disease	p.Gly175Arg	120290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	OMIM	187	cd00110	NULL
1302	111118972	Disease	p.Gly175Arg	120290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	OMIM	210	smart00210	NULL
1302	111118968	Disease	p.Gly175Arg	120290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	OMIM	156	pfam02210	NULL
1302	111118968	Disease	p.Gly175Arg	120290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	OMIM	344	smart00282	NULL
1302	111118968	Disease	p.Gly175Arg	120290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	OMIM	187	cd00110	NULL
1302	111118968	Disease	p.Gly175Arg	120290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	OMIM	210	smart00210	NULL
1302	254939712	Disease	p.Gly175Arg	120290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	OMIM	187	cd00110	NULL
1302	254939712	Disease	p.Gly175Arg	120290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	OMIM	156	pfam02210	NULL
1302	254939712	Disease	p.Gly175Arg	120290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	OMIM	210	smart00210	NULL
1302	254939712	Disease	p.Gly175Arg	120290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	OMIM	344	smart00282	NULL
1302	116241308	Disease	p.Gly175Arg	120290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	OMIM	156	pfam02210	111118970,NP_542411
1302	116241308	Disease	p.Gly175Arg	120290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	OMIM	344	smart00282	111118970,NP_542411
1302	116241308	Disease	p.Gly175Arg	120290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	OMIM	187	cd00110	111118970,NP_542411
1302	116241308	Disease	p.Gly175Arg	120290.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	OMIM	210	smart00210	111118970,NP_542411
1302	111118972	Disease	p.Gly955Glu	120290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	WEISSENBACHER-ZWEYMULLER SYNDROME||OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, HETEROZYGOUS	OMIM	24	pfam01391	NULL
1302	111118968	Disease	p.Gly955Glu	120290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	WEISSENBACHER-ZWEYMULLER SYNDROME||OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, HETEROZYGOUS	OMIM	45	pfam01391	NULL
1302	254939712	Disease	p.Gly955Glu	120290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	WEISSENBACHER-ZWEYMULLER SYNDROME||OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, HETEROZYGOUS	OMIM	No Domain	N/A	NULL
1302	116241308	Disease	p.Gly955Glu	120290.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	WEISSENBACHER-ZWEYMULLER SYNDROME||OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, HETEROZYGOUS	OMIM	55	pfam01391	111118970,NP_542411
1302	111118972	Disease	p.Arg549Cys	120290.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	DEAFNESS, AUTOSOMAL DOMINANT 13	OMIM	35	pfam01391	NULL
1302	111118968	Disease	p.Arg549Cys	120290.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	DEAFNESS, AUTOSOMAL DOMINANT 13	OMIM	56	pfam01391	NULL
1302	254939712	Disease	p.Arg549Cys	120290.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	DEAFNESS, AUTOSOMAL DOMINANT 13	OMIM	No Domain	N/A	NULL
1302	116241308	Disease	p.Arg549Cys	120290.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	DEAFNESS, AUTOSOMAL DOMINANT 13	OMIM	9	pfam01391	111118970,NP_542411
1302	111118972	Disease	p.Gly323Glu	120290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	DEAFNESS, AUTOSOMAL DOMINANT 13	OMIM	23	pfam01391	NULL
1302	111118968	Disease	p.Gly323Glu	120290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	DEAFNESS, AUTOSOMAL DOMINANT 13	OMIM	44	pfam01391	NULL
1302	254939712	Disease	p.Gly323Glu	120290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	DEAFNESS, AUTOSOMAL DOMINANT 13	OMIM	No Domain	N/A	NULL
1302	116241308	Disease	p.Gly323Glu	120290.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	DEAFNESS, AUTOSOMAL DOMINANT 13	OMIM	No Domain	N/A	111118970,NP_542411
1302	111118972	Disease	p.Pro621Thr	120290.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	DEAFNESS, AUTOSOMAL RECESSIVE 53	OMIM	47	pfam01391	NULL
1302	111118968	Disease	p.Pro621Thr	120290.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	DEAFNESS, AUTOSOMAL RECESSIVE 53	OMIM	8	pfam01391	NULL
1302	254939712	Disease	p.Pro621Thr	120290.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	DEAFNESS, AUTOSOMAL RECESSIVE 53	OMIM	No Domain	N/A	NULL
1302	116241308	Disease	p.Pro621Thr	120290.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290	DEAFNESS, AUTOSOMAL RECESSIVE 53	OMIM	21	pfam01391	111118970,NP_542411
1301	299523253	Disease	p.Gly97Val	120280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120280	STICKLER SYNDROME, TYPE II	OMIM	85	smart00210	NULL
1301	299523253	Disease	p.Gly97Val	120280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120280	STICKLER SYNDROME, TYPE II	OMIM	32	cd00110	NULL
1301	215274245	Disease	p.Gly97Val	120280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120280	STICKLER SYNDROME, TYPE II	OMIM	85	smart00210	98985806,NP_001845
1301	215274245	Disease	p.Gly97Val	120280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120280	STICKLER SYNDROME, TYPE II	OMIM	32	cd00110	98985806,NP_001845
1301	98985810	Disease	p.Gly97Val	120280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120280	STICKLER SYNDROME, TYPE II	OMIM	85	smart00210	NULL
1301	98985810	Disease	p.Gly97Val	120280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120280	STICKLER SYNDROME, TYPE II	OMIM	32	cd00110	NULL
1301	299523257	Disease	p.Gly97Val	120280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120280	STICKLER SYNDROME, TYPE II	OMIM	85	smart00210	NULL
1301	299523257	Disease	p.Gly97Val	120280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120280	STICKLER SYNDROME, TYPE II	OMIM	32	cd00110	NULL
1301	299523253	Disease	p.Gly988Val	120280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120280	MARSHALL/STICKLER SYNDROME	OMIM	30	pfam01391	NULL
1301	215274245	Disease	p.Gly988Val	120280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120280	MARSHALL/STICKLER SYNDROME	OMIM	46	pfam01391	98985806,NP_001845
1301	98985810	Disease	p.Gly988Val	120280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120280	MARSHALL/STICKLER SYNDROME	OMIM	34	pfam01391	NULL
1301	299523257	Disease	p.Gly988Val	120280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120280	MARSHALL/STICKLER SYNDROME	OMIM	25	pfam01391	NULL
1299	20137327	Disease	p.Arg103Trp	120270.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120270	INTERVERTEBRAL DISC DISEASE, SUSCEPTIBILITY TO	OMIM	15	pfam01391	119508426,NP_001844
1298	20137328	Disease	p.Gln326Trp	120260.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120260	INTERVERTEBRAL DISC DISEASE, SUSCEPTIBILITY TO	OMIM	56	pfam01391	11386161,NP_001843
1296	45644957	Disease	p.Gln455Lys	120252.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120252	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1||CORNEAL DYSTROPHY, POLYMORPHOUS POSTERIOR, 2	OMIM	23	pfam01391	32964830,NP_005193
79742	193804856	Disease	p.Gln455Lys	120252.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120252	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Gln455Lys	120252.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120252	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
1296	45644957	Disease	p.Leu450Trp	120252.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120252	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1||CORNEAL DYSTROPHY, POLYMORPHOUS POSTERIOR, 2	OMIM	18	pfam01391	32964830,NP_005193
1293	240255542	Disease	p.Gly1679Glu	120250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	No Domain	N/A	NULL
1293	55743106	Disease	p.Gly1679Glu	120250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	127	smart00327	NULL
1293	240255535	Disease	p.Gly1679Glu	120250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	38	pfam01391	NULL
1293	311033499	Disease	p.Gly1679Glu	120250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	130	smart00327	55743098,NP_004360
1293	311033499	Disease	p.Gly1679Glu	120250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	60	pfam00092	55743098,NP_004360
1293	311033499	Disease	p.Gly1679Glu	120250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	42	cd01481	55743098,NP_004360
1293	311033499	Disease	p.Gly1679Glu	120250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	45	cd01482	55743098,NP_004360
1293	311033499	Disease	p.Gly1679Glu	120250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	61	cd01472	55743098,NP_004360
1293	311033499	Disease	p.Gly1679Glu	120250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	42	cd01469	55743098,NP_004360
1293	311033499	Disease	p.Gly1679Glu	120250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	67	cd01450	55743098,NP_004360
1293	311033499	Disease	p.Gly1679Glu	120250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	66	cd00198	55743098,NP_004360
1293	240255540	Disease	p.Gly1679Glu	120250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	No Domain	N/A	NULL
1293	240255542	Disease	p.Leu1726Arg	120250.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	No Domain	N/A	NULL
1293	55743106	Disease	p.Leu1726Arg	120250.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	291	smart00327	NULL
1293	240255535	Disease	p.Leu1726Arg	120250.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	20	pfam01391	NULL
1293	311033499	Disease	p.Leu1726Arg	120250.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	292	smart00327	55743098,NP_004360
1293	311033499	Disease	p.Leu1726Arg	120250.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	133	pfam00092	55743098,NP_004360
1293	311033499	Disease	p.Leu1726Arg	120250.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	89	cd01481	55743098,NP_004360
1293	311033499	Disease	p.Leu1726Arg	120250.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	91	cd01482	55743098,NP_004360
1293	311033499	Disease	p.Leu1726Arg	120250.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	113	cd01472	55743098,NP_004360
1293	311033499	Disease	p.Leu1726Arg	120250.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	89	cd01469	55743098,NP_004360
1293	311033499	Disease	p.Leu1726Arg	120250.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	149	cd01450	55743098,NP_004360
1293	311033499	Disease	p.Leu1726Arg	120250.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	188	cd00198	55743098,NP_004360
1293	240255540	Disease	p.Leu1726Arg	120250.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120250	BETHLEM MYOPATHY	OMIM	No Domain	N/A	NULL
1292	125987812	Disease	p.Gly250Ser	120240.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	No Domain	N/A	115527062,NP_001840
1292	115527070	Disease	p.Gly250Ser	120240.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	No Domain	N/A	NULL
1292	115527066	Disease	p.Gly250Ser	120240.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	No Domain	N/A	NULL
1292	125987812	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	9	smart00327	115527062,NP_001840
1292	125987812	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	9	cd01480	115527062,NP_001840
1292	125987812	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	9	cd01475	115527062,NP_001840
1292	125987812	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01482	115527062,NP_001840
1292	125987812	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	6	pfam00092	115527062,NP_001840
1292	125987812	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01481	115527062,NP_001840
1292	125987812	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01469	115527062,NP_001840
1292	125987812	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01476	115527062,NP_001840
1292	125987812	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01450	115527062,NP_001840
1292	125987812	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01472	115527062,NP_001840
1292	125987812	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01470	115527062,NP_001840
1292	125987812	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd00198	115527062,NP_001840
1292	125987812	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01471	115527062,NP_001840
1292	125987812	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	26	cd01477	115527062,NP_001840
1292	115527070	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	9	smart00327	NULL
1292	115527070	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01482	NULL
1292	115527070	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	6	pfam00092	NULL
1292	115527070	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	9	cd01475	NULL
1292	115527070	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	9	cd01480	NULL
1292	115527070	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01481	NULL
1292	115527070	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01469	NULL
1292	115527070	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01476	NULL
1292	115527070	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01450	NULL
1292	115527070	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01472	NULL
1292	115527070	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01470	NULL
1292	115527070	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd00198	NULL
1292	115527070	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01471	NULL
1292	115527070	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	26	cd01477	NULL
1292	115527066	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	9	smart00327	NULL
1292	115527066	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01482	NULL
1292	115527066	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	6	pfam00092	NULL
1292	115527066	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	9	cd01475	NULL
1292	115527066	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	9	cd01480	NULL
1292	115527066	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01481	NULL
1292	115527066	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01469	NULL
1292	115527066	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01476	NULL
1292	115527066	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01450	NULL
1292	115527066	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01472	NULL
1292	115527066	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01470	NULL
1292	115527066	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd00198	NULL
1292	115527066	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	7	cd01471	NULL
1292	115527066	Disease	p.Asp620Asn	120240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	26	cd01477	NULL
1292	125987812	Disease	p.Pro932Leu	120240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	148	pfam00092	115527062,NP_001840
1292	125987812	Disease	p.Pro932Leu	120240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	318	smart00327	115527062,NP_001840
1292	125987812	Disease	p.Pro932Leu	120240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	137	cd01480	115527062,NP_001840
1292	125987812	Disease	p.Pro932Leu	120240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	136	cd01472	115527062,NP_001840
1292	125987812	Disease	p.Pro932Leu	120240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	157	cd01450	115527062,NP_001840
1292	125987812	Disease	p.Pro932Leu	120240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	196	cd00198	115527062,NP_001840
1292	115527070	Disease	p.Pro932Leu	120240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	No Domain	N/A	NULL
1292	115527066	Disease	p.Pro932Leu	120240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	BETHLEM MYOPATHY	OMIM	No Domain	N/A	NULL
1292	125987812	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	630	smart00327	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	201	cd01480	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	156	cd01475	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	157_G	cd01482	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	254	pfam00092	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	154	cd01481	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	165	cd01469	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	169	cd01476	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	267	cd01450	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	200	cd01472	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	192	cd01470	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	333	cd00198	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	177_G	cd01471	115527062,NP_001840
1292	115527070	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	630	smart00327	NULL
1292	115527070	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	157_G	cd01482	NULL
1292	115527070	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	254	pfam00092	NULL
1292	115527070	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	225	cd01475	NULL
1292	115527070	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	201	cd01480	NULL
1292	115527070	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	154	cd01481	NULL
1292	115527070	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	165	cd01469	NULL
1292	115527070	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	169	cd01476	NULL
1292	115527070	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	267	cd01450	NULL
1292	115527070	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	200	cd01472	NULL
1292	115527070	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	192	cd01470	NULL
1292	115527070	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	333	cd00198	NULL
1292	115527070	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	177_G	cd01471	NULL
1292	115527066	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	630	smart00327	NULL
1292	115527066	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	157_G	cd01482	NULL
1292	115527066	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	254	pfam00092	NULL
1292	115527066	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	156	cd01475	NULL
1292	115527066	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	201	cd01480	NULL
1292	115527066	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	154	cd01481	NULL
1292	115527066	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	165	cd01469	NULL
1292	115527066	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	169	cd01476	NULL
1292	115527066	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	267	cd01450	NULL
1292	115527066	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	200	cd01472	NULL
1292	115527066	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	192	cd01470	NULL
1292	115527066	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	333	cd00198	NULL
1292	115527066	Disease	p.Cys777Arg	120240.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE	OMIM	177_G	cd01471	NULL
1292	125987812	Disease	p.Gly283Arg	120240.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT	OMIM	25	pfam01391	115527062,NP_001840
1292	115527070	Disease	p.Gly283Arg	120240.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT	OMIM	25	pfam01391	NULL
1292	115527066	Disease	p.Gly283Arg	120240.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT	OMIM	25	pfam01391	NULL
1292	125987812	Disease	p.Arg498His	120240.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, DIGENIC, COL6A1/COL6A2	OMIM	33	pfam01391	115527062,NP_001840
1292	115527070	Disease	p.Arg498His	120240.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, DIGENIC, COL6A1/COL6A2	OMIM	33	pfam01391	NULL
1292	115527066	Disease	p.Arg498His	120240.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120240	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, DIGENIC, COL6A1/COL6A2	OMIM	33	pfam01391	NULL
1291	125987811	Disease	p.Gly286Val	120220.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120220	BETHLEM MYOPATHY	OMIM	30	pfam01391	87196339,NP_001839
1291	125987811	Disease	p.Gly341Asp	120220.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120220	BETHLEM MYOPATHY	OMIM	10	pfam01391	87196339,NP_001839
1291	125987811	Disease	p.Lys121Arg	120220.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120220	BETHLEM MYOPATHY	OMIM	229	smart00327	87196339,NP_001839
1291	125987811	Disease	p.Lys121Arg	120220.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120220	BETHLEM MYOPATHY	OMIM	161	cd00198	87196339,NP_001839
1291	125987811	Disease	p.Lys121Arg	120220.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120220	BETHLEM MYOPATHY	OMIM	97	cd01472	87196339,NP_001839
1291	125987811	Disease	p.Lys121Arg	120220.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120220	BETHLEM MYOPATHY	OMIM	120	cd01450	87196339,NP_001839
1291	125987811	Disease	p.Lys121Arg	120220.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120220	BETHLEM MYOPATHY	OMIM	99	cd01480	87196339,NP_001839
1291	125987811	Disease	p.Lys121Arg	120220.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120220	BETHLEM MYOPATHY	OMIM	116	pfam00092	87196339,NP_001839
1291	125987811	Disease	p.Gly284Arg	120220.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120220	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT	OMIM	28	pfam01391	87196339,NP_001839
1291	125987811	Disease	p.Gly290Arg	120220.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120220	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT	OMIM	34	pfam01391	87196339,NP_001839
1291	125987811	Disease	p.Gly281Arg	120220.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120220	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, DIGENIC, COL6A1/COL6A2	OMIM	25	pfam01391	87196339,NP_001839
1289	85687376	Disease	p.Cys1181Ser	120215.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120215	EHLERS-DANLOS SYNDROME, TYPE I	OMIM	38	pfam01391	89276751,NP_000084
1289	85687376	Disease	p.Gly1489Glu	120215.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120215	EHLERS-DANLOS SYNDROME, TYPE I	OMIM	43	pfam01391	89276751,NP_000084
1290	143811378	Disease	p.Gly934Arg	120190.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120190	EHLERS-DANLOS SYNDROME, TYPE II	OMIM	2	pfam01391	89363017,NP_000384
1281	4502951	Disease	p.Gly790Ser	120180.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV	OMIM	14	pfam01391	NULL
1281	4502951	Disease	p.Gly619Arg	120180.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV, VARIANT	OMIM	26	pfam01391	NULL
1281	4502951	Disease	p.Gly883Asp	120180.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV	OMIM	47	pfam01391	NULL
1281	4502951	Disease	p.Ala531Thr	120180.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	COLLAGEN TYPE III POLYMORPHISM	OMIM	58	pfam01391	NULL
1281	4502951	Disease	p.Gly910Val	120180.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV	OMIM	14	pfam01391	NULL
1281	4502951	Disease	p.Gly847Glu	120180.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV	OMIM	11	pfam01391	NULL
1281	4502951	Disease	p.Gly1018Asp	120180.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV	OMIM	2	pfam01391	NULL
1281	4502951	Disease	p.Gly1006Glu	120180.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV	OMIM	50	pfam01391	NULL
1281	4502951	Disease	p.Gly1021Glu	120180.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV	OMIM	5	pfam01391	NULL
1281	4502951	Disease	p.Gly136Arg	120180.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV	OMIM	46	pfam01391	NULL
1281	4502951	Disease	p.Gly637Ser	120180.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE III	OMIM	44	pfam01391	NULL
1281	4502951	Disease	p.Gly499Asp	120180.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV	OMIM	26	pfam01391	NULL
1281	4502951	Disease	p.Gly793Val	120180.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV	OMIM	17	pfam01391	NULL
1281	4502951	Disease	p.Gly415Ser	120180.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV	OMIM	2	pfam01391	NULL
1281	4502951	Disease	p.Gly934Glu	120180.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV	OMIM	38	pfam01391	NULL
1281	4502951	Disease	p.Gly571Ser	120180.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV	OMIM	38	pfam01391	NULL
1281	4502951	Disease	p.Gly16Ser	120180.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV	OMIM	No Domain	N/A	NULL
1281	4502951	Disease	p.Gly82Asp	120180.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV	OMIM	91	pfam00093	NULL
1281	4502951	Disease	p.Gly82Asp	120180.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV	OMIM	109	smart00214	NULL
1281	4502951	Disease	p.Gly373Arg	120180.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV	OMIM	20	pfam01391	NULL
1281	4502951	Disease	p.Gly385Glu	120180.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV	OMIM	32	pfam01391	NULL
1281	4502951	Disease	p.Gly130Arg	120180.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV	OMIM	40	pfam01391	NULL
1281	4502951	Disease	p.Gly883Val	120180.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120180	EHLERS-DANLOS SYNDROME, TYPE IV	OMIM	47	pfam01391	NULL
1278	296439507	Disease	p.Gly1012Arg	120160.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE IV-B	OMIM	22	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly907Asp	120160.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	34	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly547Asp	120160.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	40	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly865Ser	120160.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	55	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly646Cys	120160.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE IV	OMIM	19	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly976Asp	120160.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	46	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly805Asp	120160.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	55	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly259Cys	120160.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	52	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly472Cys	120160.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	25	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Arg618Gln	120160.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE	OMIM	51	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly586Val	120160.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE IV||OSTEOGENESIS IMPERFECTA, TYPE III	OMIM	19	pfam01391	48762934,NP_000080
79742	193804856	Disease	p.Gly586Val	120160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	MOVED TO 120160.0021	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Gly586Val	120160.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	MOVED TO 120160.0021	OMIM	No Domain	N/A	193804854,NP_789789
1278	296439507	Disease	p.Gly694Arg	120160.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	4	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly580Asp	120160.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	13	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly661Ser	120160.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOPOROSIS, POSTMENOPAUSAL	OMIM	34	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly859Ser	120160.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE III	OMIM	49	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly502Ser	120160.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	55	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly1006Ala	120160.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE III	OMIM	16	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly586Val	120160.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE III	OMIM	19	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly751Ser	120160.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE III, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	48762934,NP_000080
1278	296439507	Disease	p.Gly277Tyr	120160.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE III	OMIM	10	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly379Ala	120160.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE IV	OMIM	52	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly421Asp	120160.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE IIA	OMIM	34	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly1090Asp	120160.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE IIA	OMIM	40	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly1099Arg	120160.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160	OSTEOGENESIS IMPERFECTA, TYPE IIA	OMIM	49	pfam01391	48762934,NP_000080
1277	110349772	Disease	p.Gly97Asp	120150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	No Domain	N/A	NULL
1277	110349772	Disease	p.Gly94Cys	120150.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE I	OMIM	117	smart00214	NULL
1277	110349772	Disease	p.Gly94Cys	120150.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE I	OMIM	98	pfam00093	NULL
1277	110349772	Disease	p.Gly175Cys	120150.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE IV	OMIM	No Domain	N/A	NULL
1277	110349772	Disease	p.Gly391Arg	120150.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	36	pfam01391	NULL
1277	110349772	Disease	p.Gly526Cys	120150.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE III	OMIM	51	pfam01391	NULL
1277	110349772	Disease	p.Gly559Asp	120150.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	24	pfam01391	NULL
1277	110349772	Disease	p.Gly673Asp	120150.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	18	pfam01391	NULL
1277	110349772	Disease	p.Gly667Arg	120150.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	12	pfam01391	NULL
1277	110349772	Disease	p.Gly691Cys	120150.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	36	pfam01391	NULL
1277	110349772	Disease	p.Gly718Cys	120150.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	3	pfam01391	NULL
1277	110349772	Disease	p.Gly748Cys	120150.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	33	pfam01391	NULL
1277	110349772	Disease	p.Gly832Ser	120150.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE IV	OMIM	54	pfam01391	NULL
1277	110349772	Disease	p.Gly844Ser	120150.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE III	OMIM	6	pfam01391	NULL
1277	110349772	Disease	p.Gly847Arg	120150.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	9	pfam01391	NULL
1277	110349772	Disease	p.Gly883Asp	120150.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	45	pfam01391	NULL
1277	110349772	Disease	p.Gly904Cys	120150.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	6	pfam01391	NULL
1277	110349772	Disease	p.Gly913Ser	120150.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	15	pfam01391	NULL
1277	110349772	Disease	p.Gly988Cys	120150.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	30	pfam01391	NULL
1277	110349772	Disease	p.Gly1009Ser	120150.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	51	pfam01391	NULL
1277	110349772	Disease	p.Gly1017Cys	120150.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA	OMIM	59	pfam01391	NULL
1277	110349772	Disease	p.Gly1017Cys	120150.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA	OMIM	59	pfam01391	NULL
1277	110349772	Disease	p.Gly178Cys	120150.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE I	OMIM	3	pfam01391	NULL
1277	110349772	Disease	p.Gly541Asp	120150.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	6	pfam01391	NULL
1277	110349772	Disease	p.Gly154Arg	120150.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE III	OMIM	49	pfam01391	NULL
1277	110349772	Disease	p.Gly1003Ser	120150.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	45	pfam01391	NULL
1277	110349772	Disease	p.Gly637Val	120150.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	42	pfam01391	NULL
1277	110349772	Disease	p.Gly415Cys	120150.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE III/IV	OMIM	No Domain	N/A	NULL
1277	110349772	Disease	p.Gly85Arg	120150.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA	OMIM	93	smart00214	NULL
1277	110349772	Disease	p.Gly85Arg	120150.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA	OMIM	87	pfam00093	NULL
1277	110349772	Disease	p.Gly1006Val	120150.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE IIC	OMIM	48	pfam01391	NULL
1277	110349772	Disease	p.Gly973Val	120150.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE IIA	OMIM	15	pfam01391	NULL
1277	110349772	Disease	p.Gly256Val	120150.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE IIA	OMIM	21	pfam01391	NULL
1277	110349772	Disease	p.Gly43Cys	120150.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOPENIC NONFRACTURE SYNDROME	OMIM	6	smart00214	NULL
1277	110349772	Disease	p.Gly43Cys	120150.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOPENIC NONFRACTURE SYNDROME	OMIM	5	pfam00093	NULL
1277	110349772	Disease	p.Gly901Ser	120150.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE I	OMIM	3	pfam01391	NULL
1277	110349772	Disease	p.Gly802Val	120150.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	24	pfam01391	NULL
1277	110349772	Disease	p.Gly352Ser	120150.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE III	OMIM	57	pfam01391	NULL
1277	110349772	Disease	p.Gly415Ser	120150.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II/III	OMIM	No Domain	N/A	NULL
1277	110349772	Disease	p.Gly565Val	120150.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	30	pfam01391	NULL
1277	110349772	Disease	p.Gly355Asp	120150.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	No Domain	N/A	NULL
1277	110349772	Disease	p.Gly862Ser	120150.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE III	OMIM	24	pfam01391	NULL
1277	110349772	Disease	p.Gly661Ser	120150.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE III	OMIM	6	pfam01391	NULL
1277	110349772	Disease	p.Gly13Ala	120150.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE I, MILD	OMIM	No Domain	N/A	NULL
1277	110349772	Disease	p.Trp94Cys	120150.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II, THIN-BONE TYPE	OMIM	117	smart00214	NULL
1277	110349772	Disease	p.Trp94Cys	120150.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II, THIN-BONE TYPE	OMIM	98	pfam00093	NULL
1277	110349772	Disease	p.Gly586Val	120150.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE II	OMIM	51	pfam01391	NULL
1277	110349772	Disease	p.Arg134Cys	120150.0059	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	EHLERS-DANLOS SYNDROME, TYPE I	OMIM	29	pfam01391	NULL
1277	110349772	Disease	p.Arg836Cys	120150.0063	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	CAFFEY DISEASE||PRENATAL CORTICAL HYPEROSTOSIS, LETHAL	OMIM	58	pfam01391	NULL
1277	110349772	Disease	p.Gly13Asp	120150.0064	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OI/EDS COMBINED SYNDROME	OMIM	No Domain	N/A	NULL
1277	110349772	Disease	p.Gly76Glu	120150.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE III	OMIM	63	smart00214	NULL
1277	110349772	Disease	p.Gly76Glu	120150.0065	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150	OSTEOGENESIS IMPERFECTA, TYPE III	OMIM	57	pfam00093	NULL
1280	124056489	Disease	p.Gly943Ser	120140.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	ACHONDROGENESIS-HYPOCHONDROGENESIS, TYPE II	OMIM	23	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Gly943Ser	120140.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	ACHONDROGENESIS-HYPOCHONDROGENESIS, TYPE II	OMIM	32	pfam01391	NULL
1280	124056489	Disease	p.Arg519Cys	120140.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA||OSTEOARTHRITIS WITH MILD SPONDYLOEPIPHYSEAL DYSPLASIA	OMIM	22	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Arg519Cys	120140.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA||OSTEOARTHRITIS WITH MILD SPONDYLOEPIPHYSEAL DYSPLASIA	OMIM	31	pfam01391	NULL
1280	124056489	Disease	p.Gly574Ser	120140.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	HYPOCHONDROGENESIS	OMIM	17	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Gly574Ser	120140.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	HYPOCHONDROGENESIS	OMIM	26	pfam01391	NULL
1280	124056489	Disease	p.Gly853Glu	120140.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	HYPOCHONDROGENESIS	OMIM	53	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Gly853Glu	120140.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	HYPOCHONDROGENESIS	OMIM	2	pfam01391	NULL
1280	124056489	Disease	p.Gly997Ser	120140.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA	OMIM	17	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Gly997Ser	120140.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA	OMIM	26	pfam01391	NULL
1280	124056489	Disease	p.Gly154Arg	120140.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOMETAPHYSEAL DYSPLASIA, CONGENITAL TYPE	OMIM	38	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Gly154Arg	120140.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOMETAPHYSEAL DYSPLASIA, CONGENITAL TYPE	OMIM	26	pfam01391	NULL
1280	124056489	Disease	p.Gly67Asp	120140.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR	OMIM	60	smart00214	111118976,NP_001835
1280	124056489	Disease	p.Gly67Asp	120140.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR	OMIM	52	pfam00093	111118976,NP_001835
1280	111118974	Disease	p.Gly67Asp	120140.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR	OMIM	20	pfam01391	NULL
1280	124056489	Disease	p.Arg789Cys	120140.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA	OMIM	52	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Arg789Cys	120140.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA	OMIM	58	pfam01391	NULL
1280	124056489	Disease	p.Gly709Cys	120140.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE	OMIM	32	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Gly709Cys	120140.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE	OMIM	41	pfam01391	NULL
1280	124056489	Disease	p.Arg75Cys	120140.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS	OMIM	89	smart00214	111118976,NP_001835
1280	124056489	Disease	p.Arg75Cys	120140.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS	OMIM	67	pfam00093	111118976,NP_001835
1280	111118974	Disease	p.Arg75Cys	120140.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS	OMIM	28	pfam01391	NULL
1280	124056489	Disease	p.Gly103Asp	120140.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	KNIEST DYSPLASIA	OMIM	No Domain	N/A	111118976,NP_001835
1280	111118974	Disease	p.Gly103Asp	120140.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	KNIEST DYSPLASIA	OMIM	56	pfam01391	NULL
1280	124056489	Disease	p.Gly769Ser	120140.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	ACHONDROGENESIS, TYPE II	OMIM	32	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Gly769Ser	120140.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	ACHONDROGENESIS, TYPE II	OMIM	38	pfam01391	NULL
1280	124056489	Disease	p.Gly691Arg	120140.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	ACHONDROGENESIS, TYPE II	OMIM	14	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Gly691Arg	120140.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	ACHONDROGENESIS, TYPE II	OMIM	23	pfam01391	NULL
1280	124056489	Disease	p.Gly304Cys	120140.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE	OMIM	47	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Gly304Cys	120140.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE	OMIM	56	pfam01391	NULL
1280	124056489	Disease	p.Gly292Val	120140.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE	OMIM	35	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Gly292Val	120140.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE	OMIM	44	pfam01391	NULL
1280	124056489	Disease	p.Arg704Cys	120140.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS	OMIM	27	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Arg704Cys	120140.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS	OMIM	36	pfam01391	NULL
1280	124056489	Disease	p.Gly973Arg	120140.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA	OMIM	53	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Gly973Arg	120140.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA	OMIM	2	pfam01391	NULL
1280	124056489	Disease	p.Arg365Cys	120140.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	STICKLER SYNDROME, TYPE I	OMIM	48	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Arg365Cys	120140.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	STICKLER SYNDROME, TYPE I	OMIM	57	pfam01391	NULL
1280	124056489	Disease	p.Leu467Phe	120140.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR	OMIM	30	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Leu467Phe	120140.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR	OMIM	39	pfam01391	NULL
1280	124056489	Disease	p.Thr1370Met	120140.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA	OMIM	135	pfam01410	111118976,NP_001835
1280	124056489	Disease	p.Thr1370Met	120140.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA	OMIM	134	smart00038	111118976,NP_001835
1280	111118974	Disease	p.Thr1370Met	120140.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA	OMIM	204	smart00038	NULL
1280	111118974	Disease	p.Thr1370Met	120140.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA	OMIM	206	pfam01410	NULL
1280	124056489	Disease	p.Gly1105Asp	120140.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA	OMIM	5	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Gly1105Asp	120140.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA	OMIM	17	pfam01391	NULL
1280	124056489	Disease	p.Gly316Asp	120140.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	ACHONDROGENESIS, TYPE II	OMIM	59	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Gly316Asp	120140.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	ACHONDROGENESIS, TYPE II	OMIM	8	pfam01391	NULL
1280	124056489	Disease	p.Tyr1391Cys	120140.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE	OMIM	156	pfam01410	111118976,NP_001835
1280	124056489	Disease	p.Tyr1391Cys	120140.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE	OMIM	155	smart00038	111118976,NP_001835
1280	111118974	Disease	p.Tyr1391Cys	120140.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE	OMIM	225	smart00038	NULL
1280	111118974	Disease	p.Tyr1391Cys	120140.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE	OMIM	229	pfam01410	NULL
1280	124056489	Disease	p.Gly1170Ser	120140.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY||LEGG-CALVE-PERTHES DISEASE	OMIM	13	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Gly1170Ser	120140.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY||LEGG-CALVE-PERTHES DISEASE	OMIM	No Domain	N/A	NULL
1280	124056489	Disease	p.Gly717Ser	120140.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY	OMIM	40	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Gly717Ser	120140.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY	OMIM	49	pfam01391	NULL
1280	124056489	Disease	p.Gly118Arg	120140.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT	OMIM	2	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Gly118Arg	120140.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	NULL
1280	124056489	Disease	p.Arg792Gly	120140.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE	OMIM	55	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Arg792Gly	120140.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE	OMIM	No Domain	N/A	NULL
1280	124056489	Disease	p.Cys57Tyr	120140.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR	OMIM	42	smart00214	111118976,NP_001835
1280	124056489	Disease	p.Cys57Tyr	120140.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR	OMIM	34	pfam00093	111118976,NP_001835
1280	111118974	Disease	p.Cys57Tyr	120140.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR	OMIM	10	pfam01391	NULL
1280	124056489	Disease	p.Gly346Val	120140.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	ACHONDROGENESIS, TYPE II	OMIM	29	pfam01391	111118976,NP_001835
1280	111118974	Disease	p.Gly346Val	120140.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120140	ACHONDROGENESIS, TYPE II	OMIM	38	pfam01391	NULL
1286	259016360	Disease	p.Gly1201Ser	120131.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120131	ALPORT SYNDROME, AUTOSOMAL RECESSIVE	OMIM	4	pfam01391	116256356,NP_000083
1286	259016360	Disease	p.Gly897Glu	120131.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120131	HEMATURIA, BENIGN FAMILIAL	OMIM	28	pfam01391	116256356,NP_000083
1286	259016360	Disease	p.Pro1572Leu	120131.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120131	ALPORT SYNDROME, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	116256356,NP_000083
1286	259016360	Disease	p.Gly960Arg	120131.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120131	HEMATURIA, BENIGN FAMILIAL	OMIM	28	pfam01391	116256356,NP_000083
1282	125987809	Disease	p.Gly1236Arg	120130.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120130	PORENCEPHALY, FAMILIAL	OMIM	58	pfam01391	148536825,NP_001836
1282	125987809	Disease	p.Gly749Ser	120130.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120130	PORENCEPHALY, FAMILIAL	OMIM	10	pfam01391	148536825,NP_001836
1282	125987809	Disease	p.Gly562Glu	120130.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120130	BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE	OMIM	16	pfam01391	148536825,NP_001836
1282	125987809	Disease	p.Met1Leu	120130.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120130	PORENCEPHALY, FAMILIAL	OMIM	No Domain	N/A	148536825,NP_001836
1282	125987809	Disease	p.Gly1130Asp	120130.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120130	PORENCEPHALY, FAMILIAL	OMIM	13	pfam01391	148536825,NP_001836
1282	125987809	Disease	p.Gly1423Arg	120130.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120130	PORENCEPHALY, FAMILIAL	OMIM	58	pfam01391	148536825,NP_001836
1282	125987809	Disease	p.Gly498Val	120130.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120130	ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS	OMIM	28	pfam01391	148536825,NP_001836
1282	125987809	Disease	p.Gly519Arg	120130.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120130	ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS	OMIM	49	pfam01391	148536825,NP_001836
1282	125987809	Disease	p.Gly528Glu	120130.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120130	ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS	OMIM	58	pfam01391	148536825,NP_001836
1282	125987809	Disease	p.Gly720Asp	120130.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120130	BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY	OMIM	49	pfam01391	148536825,NP_001836
1282	125987809	Disease	p.Gly1580Arg	120130.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120130	PORENCEPHALY	OMIM	26	pfam01413	148536825,NP_001836
1282	125987809	Disease	p.Gly1580Arg	120130.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120130	PORENCEPHALY	OMIM	26	smart00111	148536825,NP_001836
1294	1345650	Disease	p.Met2798Lys	120120.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	4502961,NP_000085
1294	1345650	Disease	p.Gly2040Ser	120120.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT	OMIM	55	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2623Cys	120120.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA, PRETIBIAL	OMIM	10	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2003Arg	120120.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE	OMIM	19	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly1347Arg	120120.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT	OMIM	22	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2251Glu	120120.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN||TOENAIL DYSTROPHY, ISOLATED||EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT	OMIM	19	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly1519Asp	120120.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN	OMIM	7	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2043Arg	120120.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT	OMIM	58	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2242Arg	120120.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT	OMIM	10	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2031Ser	120120.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE	OMIM	46	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2287Arg	120120.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	TOENAIL DYSTROPHY, ISOLATED	OMIM	55	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly1595Arg	120120.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	TOENAIL DYSTROPHY, ISOLATED	OMIM	10	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly1815Arg	120120.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	TOENAIL DYSTROPHY, ISOLATED	OMIM	43	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2006Asp	120120.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT	OMIM	22	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2015Glu	120120.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT	OMIM	31	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2034Arg	120120.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT	OMIM	49	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Pro1699Leu	120120.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE	OMIM	54	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2037Glu	120120.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT	OMIM	52	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2073Val	120120.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT	OMIM	28	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Arg2063Trp	120120.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE	OMIM	18	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2076Asp	120120.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT	OMIM	31	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2653Arg	120120.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE	OMIM	40	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2749Arg	120120.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE	OMIM	16	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Arg2069Cys	120120.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE	OMIM	24	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	120120.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE	OMIM	117	cd01474	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	120120.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE	OMIM	143	cd01480	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	120120.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE	OMIM	110	cd01475	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	120120.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE	OMIM	382	smart00327	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	120120.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE	OMIM	161	pfam00092	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	120120.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE	OMIM	178	cd01450	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	120120.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE	OMIM	108	cd01481	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	120120.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE	OMIM	111	cd01482	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	120120.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE	OMIM	142	cd01472	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	120120.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE	OMIM	106	cd01469	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	120120.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE	OMIM	169	cd01454	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	120120.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE	OMIM	216	cd00198	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	120120.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE	OMIM	114	cd01476	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	120120.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120120	EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE	OMIM	111	cd01471	4502961,NP_000085
1300	2506306	Disease	p.Tyr598Asp	120110.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120110	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE	OMIM	58	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Tyr598Asp	120110.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120110	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE	OMIM	60	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Leu614Pro	120110.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120110	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE	OMIM	79	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Leu614Pro	120110.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120110	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE	OMIM	78	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Cys591Arg	120110.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120110	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE	OMIM	51	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Cys591Arg	120110.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120110	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE	OMIM	53	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Trp651Arg	120110.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120110	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE	OMIM	122	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Trp651Arg	120110.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120110	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE	OMIM	121	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Gly18Arg	120110.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120110	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE	OMIM	No Domain	N/A	18105032,NP_000484
1300	2506306	Disease	p.Gly18Glu	120110.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120110	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE	OMIM	No Domain	N/A	18105032,NP_000484
1300	2506306	Disease	p.Ser671Pro	120110.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120110	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE	OMIM	144	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Ser671Pro	120110.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120110	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE	OMIM	143	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Gly595Glu	120110.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120110	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE	OMIM	55	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Gly595Glu	120110.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120110	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE	OMIM	57	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Tyr597Cys	120110.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120110	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE	OMIM	57	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Tyr597Cys	120110.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120110	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE	OMIM	59	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Ser600Pro	120110.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120110	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE	OMIM	60	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Ser600Pro	120110.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120110	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE	OMIM	62	smart00110	18105032,NP_000484
1285	134035067	Disease	p.Gly1015Glu	120070.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120070	HEMATURIA, BENIGN FAMILIAL	OMIM	28	pfam01391	89142730,NP_000082
1285	134035067	Disease	p.Gly985Val	120070.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120070	HEMATURIA, BENIGN FAMILIAL	OMIM	58	pfam01391	89142730,NP_000082
1285	134035067	Disease	p.Gly1167Arg	120070.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120070	ALPORT SYNDROME, AUTOSOMAL DOMINANT	OMIM	58	pfam01391	89142730,NP_000082
1141	113105	Disease	p.Val287Leu	118507.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118507	EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3	OMIM	48	pfam02932	4502833,NP_000739
1141	113105	Disease	p.Val287Met	118507.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118507	EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3	OMIM	48	pfam02932	4502833,NP_000739
1137	1351848	Disease	p.Ser252Phe	118504.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118504	EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1	OMIM	3	pfam02932	4502827,NP_000735
1137	1351848	Disease	p.Ser252Leu	118504.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118504	EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1	OMIM	3	pfam02932	4502827,NP_000735
1135	308153405	Disease	p.Ile279Asn	118502.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118502	EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4	OMIM	8	pfam02932	153792669,NP_000733
10044	74751027	Disease	p.Pro211Ala	118490.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	41281821,NP_733745
10044	216547801	Disease	p.Pro211Ala	118490.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	216547779	Disease	p.Pro211Ala	118490.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	216547763	Disease	p.Pro211Ala	118490.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	216547769	Disease	p.Pro211Ala	118490.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	216547790	Disease	p.Pro211Ala	118490.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	74751027	Disease	p.Glu441Lys	118490.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	41281821,NP_733745
10044	216547801	Disease	p.Glu441Lys	118490.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	20	smart00147	NULL
10044	216547801	Disease	p.Glu441Lys	118490.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	20	cd00155	NULL
10044	216547779	Disease	p.Glu441Lys	118490.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	358	smart00147	NULL
10044	216547779	Disease	p.Glu441Lys	118490.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	280	cd00155	NULL
10044	216547763	Disease	p.Glu441Lys	118490.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	17	smart00147	NULL
10044	216547763	Disease	p.Glu441Lys	118490.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	17	cd00155	NULL
10044	216547769	Disease	p.Glu441Lys	118490.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	358	smart00147	NULL
10044	216547769	Disease	p.Glu441Lys	118490.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	280	cd00155	NULL
10044	216547790	Disease	p.Glu441Lys	118490.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	18	smart00147	NULL
10044	216547790	Disease	p.Glu441Lys	118490.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	18	cd00155	NULL
10044	74751027	Disease	p.Val506Leu	118490.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	41281821,NP_733745
10044	216547801	Disease	p.Val506Leu	118490.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	106	smart00147	NULL
10044	216547801	Disease	p.Val506Leu	118490.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	105	cd00155	NULL
10044	216547779	Disease	p.Val506Leu	118490.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	216547763	Disease	p.Val506Leu	118490.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	103	smart00147	NULL
10044	216547763	Disease	p.Val506Leu	118490.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	102	cd00155	NULL
10044	216547769	Disease	p.Val506Leu	118490.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	216547790	Disease	p.Val506Leu	118490.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	104	smart00147	NULL
10044	216547790	Disease	p.Val506Leu	118490.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	103	cd00155	NULL
10044	74751027	Disease	p.Arg482Gly	118490.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	41281821,NP_733745
10044	216547801	Disease	p.Arg482Gly	118490.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	69	smart00147	NULL
10044	216547801	Disease	p.Arg482Gly	118490.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	68	cd00155	NULL
10044	216547779	Disease	p.Arg482Gly	118490.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	404	smart00147	NULL
10044	216547763	Disease	p.Arg482Gly	118490.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	66	smart00147	NULL
10044	216547763	Disease	p.Arg482Gly	118490.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	65	cd00155	NULL
10044	216547769	Disease	p.Arg482Gly	118490.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	404	smart00147	NULL
10044	216547790	Disease	p.Arg482Gly	118490.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	67	smart00147	NULL
10044	216547790	Disease	p.Arg482Gly	118490.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	66	cd00155	NULL
10044	74751027	Disease	p.Arg560His	118490.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	41281821,NP_733745
10044	216547801	Disease	p.Arg560His	118490.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	160	smart00147	NULL
10044	216547801	Disease	p.Arg560His	118490.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	163	cd00155	NULL
10044	216547779	Disease	p.Arg560His	118490.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	216547763	Disease	p.Arg560His	118490.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	157	smart00147	NULL
10044	216547763	Disease	p.Arg560His	118490.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	160	cd00155	NULL
10044	216547769	Disease	p.Arg560His	118490.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	216547790	Disease	p.Arg560His	118490.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	158	smart00147	NULL
10044	216547790	Disease	p.Arg560His	118490.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	161	cd00155	NULL
10044	74751027	Disease	p.Leu210Pro	118490.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	41281821,NP_733745
10044	216547801	Disease	p.Leu210Pro	118490.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	216547779	Disease	p.Leu210Pro	118490.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	216547763	Disease	p.Leu210Pro	118490.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	216547769	Disease	p.Leu210Pro	118490.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	216547790	Disease	p.Leu210Pro	118490.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	74751027	Disease	p.Ser498Leu	118490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	41281821,NP_733745
10044	216547801	Disease	p.Ser498Leu	118490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	98	smart00147	NULL
10044	216547801	Disease	p.Ser498Leu	118490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	97	cd00155	NULL
10044	216547779	Disease	p.Ser498Leu	118490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	428	smart00147	NULL
10044	216547763	Disease	p.Ser498Leu	118490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	82	smart00147	NULL
10044	216547763	Disease	p.Ser498Leu	118490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	81	cd00155	NULL
10044	216547769	Disease	p.Ser498Leu	118490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	428	smart00147	NULL
10044	216547790	Disease	p.Ser498Leu	118490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	83	smart00147	NULL
10044	216547790	Disease	p.Ser498Leu	118490.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	82	cd00155	NULL
10044	74751027	Disease	p.Ile305Thr	118490.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	138	cd00173	41281821,NP_733745
10044	74751027	Disease	p.Ile305Thr	118490.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	344	smart00252	41281821,NP_733745
10044	216547801	Disease	p.Ile305Thr	118490.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	216547779	Disease	p.Ile305Thr	118490.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	99	smart00147	NULL
10044	216547779	Disease	p.Ile305Thr	118490.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	98	cd00155	NULL
10044	216547763	Disease	p.Ile305Thr	118490.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	216547769	Disease	p.Ile305Thr	118490.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	99	smart00147	NULL
10044	216547769	Disease	p.Ile305Thr	118490.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	98	cd00155	NULL
10044	216547790	Disease	p.Ile305Thr	118490.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	74751027	Disease	p.Arg420Cys	118490.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	41281821,NP_733745
10044	216547801	Disease	p.Arg420Cys	118490.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	216547779	Disease	p.Arg420Cys	118490.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	335	smart00147	NULL
10044	216547779	Disease	p.Arg420Cys	118490.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	259	cd00155	NULL
10044	216547763	Disease	p.Arg420Cys	118490.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	216547769	Disease	p.Arg420Cys	118490.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	335	smart00147	NULL
10044	216547769	Disease	p.Arg420Cys	118490.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	259	cd00155	NULL
10044	216547790	Disease	p.Arg420Cys	118490.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	74751027	Disease	p.Ile1336Thr	118490.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	41281821,NP_733745
10044	216547801	Disease	p.Ile1336Thr	118490.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	216547779	Disease	p.Ile1336Thr	118490.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	216547763	Disease	p.Ile1336Thr	118490.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	216547769	Disease	p.Ile1336Thr	118490.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
10044	216547790	Disease	p.Ile1336Thr	118490.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118490	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	OMIM	No Domain	N/A	NULL
1583	153218654	Disease	p.Arg353Trp	118485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118485	ADRENAL INSUFFICIENCY, CONGENITAL	OMIM	566	COG2124	NULL
1583	143811381	Disease	p.Arg353Trp	118485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118485	ADRENAL INSUFFICIENCY, CONGENITAL	OMIM	360	pfam00067	153218646,NP_000772
1583	143811381	Disease	p.Arg353Trp	118485.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118485	ADRENAL INSUFFICIENCY, CONGENITAL	OMIM	362	COG2124	153218646,NP_000772
1583	153218654	Disease	p.Ala189Val	118485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118485	ADRENAL INSUFFICIENCY, CONGENITAL	OMIM	354	pfam00067	NULL
1583	153218654	Disease	p.Ala189Val	118485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118485	ADRENAL INSUFFICIENCY, CONGENITAL	OMIM	356	COG2124	NULL
1583	143811381	Disease	p.Ala189Val	118485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118485	ADRENAL INSUFFICIENCY, CONGENITAL	OMIM	149	pfam00067	153218646,NP_000772
1583	143811381	Disease	p.Ala189Val	118485.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118485	ADRENAL INSUFFICIENCY, CONGENITAL	OMIM	180_G	COG2124	153218646,NP_000772
1583	153218654	Disease	p.Ala359Val	118485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118485	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL	OMIM	No Domain	N/A	NULL
1583	143811381	Disease	p.Ala359Val	118485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118485	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL	OMIM	366	pfam00067	153218646,NP_000772
1583	143811381	Disease	p.Ala359Val	118485.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118485	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL	OMIM	368	COG2124	153218646,NP_000772
1583	153218654	Disease	p.Leu141Trp	118485.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118485	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL	OMIM	290	pfam00067	NULL
1583	153218654	Disease	p.Leu141Trp	118485.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118485	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL	OMIM	297	COG2124	NULL
1583	143811381	Disease	p.Leu141Trp	118485.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118485	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL	OMIM	97	pfam00067	153218646,NP_000772
1583	143811381	Disease	p.Leu141Trp	118485.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118485	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL	OMIM	130	COG2124	153218646,NP_000772
1583	153218654	Disease	p.Val415Glu	118485.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118485	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL	OMIM	No Domain	N/A	NULL
1583	143811381	Disease	p.Val415Glu	118485.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118485	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL	OMIM	440	pfam00067	153218646,NP_000772
1583	143811381	Disease	p.Val415Glu	118485.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118485	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL	OMIM	439	COG2124	153218646,NP_000772
1071	71153497	Disease	p.Asp442Gly	118470.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118470	CHOLESTEROL ESTER TRANSFER PROTEIN DEFICIENCY||HYPERALPHALIPOPROTEINEMIA	OMIM	223	smart00329	169636439,NP_000069
1071	71153497	Disease	p.Asp442Gly	118470.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118470	CHOLESTEROL ESTER TRANSFER PROTEIN DEFICIENCY||HYPERALPHALIPOPROTEINEMIA	OMIM	229	pfam02886	169636439,NP_000069
1071	71153497	Disease	p.Asp442Gly	118470.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118470	CHOLESTEROL ESTER TRANSFER PROTEIN DEFICIENCY||HYPERALPHALIPOPROTEINEMIA	OMIM	209	cd00264	169636439,NP_000069
1071	71153497	Disease	p.Asp442Gly	118470.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118470	CHOLESTEROL ESTER TRANSFER PROTEIN DEFICIENCY||HYPERALPHALIPOPROTEINEMIA	OMIM	178	cd00026	169636439,NP_000069
1071	71153497	Disease	p.Ile405Val	118470.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118470	HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 10	OMIM	166	smart00329	169636439,NP_000069
1071	71153497	Disease	p.Ile405Val	118470.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118470	HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 10	OMIM	190	pfam02886	169636439,NP_000069
1071	71153497	Disease	p.Ile405Val	118470.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118470	HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 10	OMIM	160	cd00264	169636439,NP_000069
1071	71153497	Disease	p.Ile405Val	118470.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118470	HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 10	OMIM	141	cd00026	169636439,NP_000069
886	416772	Disease	p.Gly21Arg	118444.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118444	CHOLECYSTOKININ A RECEPTOR POLYMORPHISM	OMIM	23	pfam09193	4502607,NP_000721
886	416772	Disease	p.Val365Ile	118444.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118444	CHOLECYSTOKININ A RECEPTOR POLYMORPHISM	OMIM	425	pfam00001	4502607,NP_000721
1180	119433677	Disease	p.Phe413Cys	118425.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	440	pfam00654	NULL
1180	119433677	Disease	p.Phe413Cys	118425.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	297	cd01031	NULL
1180	119433677	Disease	p.Phe413Cys	118425.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	285	cd01034	NULL
1180	119433677	Disease	p.Phe413Cys	118425.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	403	COG0038	NULL
1180	119433677	Disease	p.Phe413Cys	118425.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	376	cd00400	NULL
1180	119433677	Disease	p.Phe413Cys	118425.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	438	cd03684	NULL
1180	119433677	Disease	p.Phe413Cys	118425.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	354	cd01036	NULL
1180	119433677	Disease	p.Phe413Cys	118425.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	322	cd03683	NULL
1180	119433677	Disease	p.Phe413Cys	118425.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	367	cd03685	NULL
1180	119433677	Disease	p.Gly230Glu	118425.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	92	pfam00654	NULL
1180	119433677	Disease	p.Gly230Glu	118425.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	112	cd01031	NULL
1180	119433677	Disease	p.Gly230Glu	118425.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	111	cd01034	NULL
1180	119433677	Disease	p.Gly230Glu	118425.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	198	COG0038	NULL
1180	119433677	Disease	p.Gly230Glu	118425.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	158	cd00400	NULL
1180	119433677	Disease	p.Gly230Glu	118425.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	228	cd03684	NULL
1180	119433677	Disease	p.Gly230Glu	118425.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	147	cd01036	NULL
1180	119433677	Disease	p.Gly230Glu	118425.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	135	cd03683	NULL
1180	119433677	Disease	p.Gly230Glu	118425.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	159	cd03685	NULL
1180	119433677	Disease	p.Arg496Ser	118425.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	692	pfam00654	NULL
1180	119433677	Disease	p.Arg496Ser	118425.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	380	cd01031	NULL
1180	119433677	Disease	p.Arg496Ser	118425.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	347	cd01034	NULL
1180	119433677	Disease	p.Arg496Ser	118425.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	481	COG0038	NULL
1180	119433677	Disease	p.Arg496Ser	118425.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	498	cd00400	NULL
1180	119433677	Disease	p.Arg496Ser	118425.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	519	cd03684	NULL
1180	119433677	Disease	p.Arg496Ser	118425.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	533	cd01036	NULL
1180	119433677	Disease	p.Arg496Ser	118425.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	419	cd03683	NULL
1180	119433677	Disease	p.Arg496Ser	118425.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	522	cd03685	NULL
1180	119433677	Disease	p.Gly482Arg	118425.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	678	pfam00654	NULL
1180	119433677	Disease	p.Gly482Arg	118425.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	366	cd01031	NULL
1180	119433677	Disease	p.Gly482Arg	118425.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	333	cd01034	NULL
1180	119433677	Disease	p.Gly482Arg	118425.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	467	COG0038	NULL
1180	119433677	Disease	p.Gly482Arg	118425.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	484	cd00400	NULL
1180	119433677	Disease	p.Gly482Arg	118425.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	505	cd03684	NULL
1180	119433677	Disease	p.Gly482Arg	118425.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	519	cd01036	NULL
1180	119433677	Disease	p.Gly482Arg	118425.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	405	cd03683	NULL
1180	119433677	Disease	p.Gly482Arg	118425.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	508	cd03685	NULL
1180	119433677	Disease	p.Pro480Leu	118425.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	676	pfam00654	NULL
1180	119433677	Disease	p.Pro480Leu	118425.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	364	cd01031	NULL
1180	119433677	Disease	p.Pro480Leu	118425.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	331	cd01034	NULL
1180	119433677	Disease	p.Pro480Leu	118425.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	465	COG0038	NULL
1180	119433677	Disease	p.Pro480Leu	118425.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	482	cd00400	NULL
1180	119433677	Disease	p.Pro480Leu	118425.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	503	cd03684	NULL
1180	119433677	Disease	p.Pro480Leu	118425.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	517	cd01036	NULL
1180	119433677	Disease	p.Pro480Leu	118425.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	403	cd03683	NULL
1180	119433677	Disease	p.Pro480Leu	118425.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	506	cd03685	NULL
1180	119433677	Disease	p.Gln552Arg	118425.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA LEVIOR	OMIM	783	pfam00654	NULL
1180	119433677	Disease	p.Gln552Arg	118425.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA LEVIOR	OMIM	434	cd01031	NULL
1180	119433677	Disease	p.Gln552Arg	118425.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA LEVIOR	OMIM	397	cd01034	NULL
1180	119433677	Disease	p.Gln552Arg	118425.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA LEVIOR	OMIM	544	COG0038	NULL
1180	119433677	Disease	p.Gln552Arg	118425.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA LEVIOR	OMIM	571	cd00400	NULL
1180	119433677	Disease	p.Gln552Arg	118425.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA LEVIOR	OMIM	600	cd03684	NULL
1180	119433677	Disease	p.Gln552Arg	118425.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA LEVIOR	OMIM	597	cd01036	NULL
1180	119433677	Disease	p.Gln552Arg	118425.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA LEVIOR	OMIM	475	cd03683	NULL
1180	119433677	Disease	p.Gln552Arg	118425.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA LEVIOR	OMIM	572	cd03685	NULL
1180	119433677	Disease	p.Ile290Met	118425.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	193	pfam00654	NULL
1180	119433677	Disease	p.Ile290Met	118425.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	169	cd01031	NULL
1180	119433677	Disease	p.Ile290Met	118425.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	170	cd01034	NULL
1180	119433677	Disease	p.Ile290Met	118425.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	257	COG0038	NULL
1180	119433677	Disease	p.Ile290Met	118425.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	235	cd00400	NULL
1180	119433677	Disease	p.Ile290Met	118425.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	287	cd03684	NULL
1180	119433677	Disease	p.Ile290Met	118425.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	215	cd01036	NULL
1180	119433677	Disease	p.Ile290Met	118425.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	197	cd03683	NULL
1180	119433677	Disease	p.Ile290Met	118425.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	226	cd03685	NULL
1180	119433677	Disease	p.Glu291Lys	118425.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	194	pfam00654	NULL
1180	119433677	Disease	p.Glu291Lys	118425.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	170	cd01031	NULL
1180	119433677	Disease	p.Glu291Lys	118425.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	171	cd01034	NULL
1180	119433677	Disease	p.Glu291Lys	118425.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	258	COG0038	NULL
1180	119433677	Disease	p.Glu291Lys	118425.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	236	cd00400	NULL
1180	119433677	Disease	p.Glu291Lys	118425.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	288	cd03684	NULL
1180	119433677	Disease	p.Glu291Lys	118425.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	216	cd01036	NULL
1180	119433677	Disease	p.Glu291Lys	118425.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	198	cd03683	NULL
1180	119433677	Disease	p.Glu291Lys	118425.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	227	cd03685	NULL
1180	119433677	Disease	p.Arg317Gln	118425.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE||MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	248	pfam00654	NULL
1180	119433677	Disease	p.Arg317Gln	118425.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE||MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	209	cd01031	NULL
1180	119433677	Disease	p.Arg317Gln	118425.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE||MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	195_G	cd01034	NULL
1180	119433677	Disease	p.Arg317Gln	118425.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE||MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	297	COG0038	NULL
1180	119433677	Disease	p.Arg317Gln	118425.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE||MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	274	cd00400	NULL
1180	119433677	Disease	p.Arg317Gln	118425.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE||MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	327	cd03684	NULL
1180	119433677	Disease	p.Arg317Gln	118425.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE||MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	242	cd01036	NULL
1180	119433677	Disease	p.Arg317Gln	118425.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE||MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	224	cd03683	NULL
1180	119433677	Disease	p.Arg317Gln	118425.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE||MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	253	cd03685	NULL
1180	119433677	Disease	p.Gly499Arg	118425.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	701	pfam00654	NULL
1180	119433677	Disease	p.Gly499Arg	118425.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	383	cd01031	NULL
1180	119433677	Disease	p.Gly499Arg	118425.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	350	cd01034	NULL
1180	119433677	Disease	p.Gly499Arg	118425.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	484	COG0038	NULL
1180	119433677	Disease	p.Gly499Arg	118425.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	501	cd00400	NULL
1180	119433677	Disease	p.Gly499Arg	118425.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	522	cd03684	NULL
1180	119433677	Disease	p.Gly499Arg	118425.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	536	cd01036	NULL
1180	119433677	Disease	p.Gly499Arg	118425.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	422	cd03683	NULL
1180	119433677	Disease	p.Gly499Arg	118425.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	525	cd03685	NULL
1180	119433677	Disease	p.Pro932Leu	118425.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
1180	119433677	Disease	p.Met128Val	118425.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	5	cd01031	NULL
1180	119433677	Disease	p.Met128Val	118425.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	49	COG0038	NULL
1180	119433677	Disease	p.Met128Val	118425.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	4	cd00400	NULL
1180	119433677	Disease	p.Met128Val	118425.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	4	cd03684	NULL
1180	119433677	Disease	p.Met128Val	118425.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	4	cd01036	NULL
1180	119433677	Disease	p.Met128Val	118425.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	12	cd03683	NULL
1180	119433677	Disease	p.Met128Val	118425.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	44	cd03685	NULL
1180	119433677	Disease	p.Ser189Phe	118425.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	35	pfam00654	NULL
1180	119433677	Disease	p.Ser189Phe	118425.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	72	cd01031	NULL
1180	119433677	Disease	p.Ser189Phe	118425.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	64	cd01034	NULL
1180	119433677	Disease	p.Ser189Phe	118425.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	153	COG0038	NULL
1180	119433677	Disease	p.Ser189Phe	118425.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	112	cd00400	NULL
1180	119433677	Disease	p.Ser189Phe	118425.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	184	cd03684	NULL
1180	119433677	Disease	p.Ser189Phe	118425.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	104	cd01036	NULL
1180	119433677	Disease	p.Ser189Phe	118425.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	92	cd03683	NULL
1180	119433677	Disease	p.Ser189Phe	118425.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	OMIM	118	cd03685	NULL
1180	119433677	Disease	p.Trp433Arg	118425.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT||MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	543	pfam00654	NULL
1180	119433677	Disease	p.Trp433Arg	118425.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT||MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	319	cd01031	NULL
1180	119433677	Disease	p.Trp433Arg	118425.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT||MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	299_G	cd01034	NULL
1180	119433677	Disease	p.Trp433Arg	118425.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT||MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	425	COG0038	NULL
1180	119433677	Disease	p.Trp433Arg	118425.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT||MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	396	cd00400	NULL
1180	119433677	Disease	p.Trp433Arg	118425.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT||MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	458	cd03684	NULL
1180	119433677	Disease	p.Trp433Arg	118425.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT||MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	374	cd01036	NULL
1180	119433677	Disease	p.Trp433Arg	118425.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT||MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	356	cd03683	NULL
1180	119433677	Disease	p.Trp433Arg	118425.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118425	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT||MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	OMIM	455	cd03685	NULL
1123	21903393	Disease	p.Leu20Phe	118423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	No Domain	N/A	4502813,NP_001813
1123	209364623	Disease	p.Leu20Phe	118423.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	No Domain	N/A	NULL
1123	21903393	Disease	p.Ile126Met	118423.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	152	cd00173	4502813,NP_001813
1123	209364623	Disease	p.Ile126Met	118423.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	152	cd00173	NULL
1123	21903393	Disease	p.Tyr143His	118423.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	No Domain	N/A	4502813,NP_001813
1123	209364623	Disease	p.Tyr143His	118423.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	No Domain	N/A	NULL
1123	21903393	Disease	p.Ala223Val	118423.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	24	cd00029	4502813,NP_001813
1123	21903393	Disease	p.Ala223Val	118423.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	28	smart00109	4502813,NP_001813
1123	21903393	Disease	p.Ala223Val	118423.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	25	pfam00130	4502813,NP_001813
1123	209364623	Disease	p.Ala223Val	118423.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	68	pfam00130	NULL
1123	209364623	Disease	p.Ala223Val	118423.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	89	smart00109	NULL
1123	209364623	Disease	p.Ala223Val	118423.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	56	cd00029	NULL
1123	21903393	Disease	p.Gly228Ser	118423.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	29	cd00029	4502813,NP_001813
1123	21903393	Disease	p.Gly228Ser	118423.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	33	smart00109	4502813,NP_001813
1123	21903393	Disease	p.Gly228Ser	118423.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	40	pfam00130	4502813,NP_001813
1123	209364623	Disease	p.Gly228Ser	118423.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	73	pfam00130	NULL
1123	209364623	Disease	p.Gly228Ser	118423.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	107	smart00109	NULL
1123	209364623	Disease	p.Gly228Ser	118423.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	65	cd00029	NULL
1123	21903393	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	59	cd00029	4502813,NP_001813
1123	21903393	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	96	smart00109	4502813,NP_001813
1123	21903393	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	71	pfam00130	4502813,NP_001813
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	17	cd04375	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	18	cd04373	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	14	cd04394	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	14	cd04395	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	21	cd04391	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	14	cd04400	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	16	cd04382	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	18	cd04404	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	15	cd04393	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	17	cd04383	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	15	cd04384	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	21	cd04390	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	19	cd04379	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	25	cd04397	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	13	cd04378	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	13	cd04409	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	13	cd04389	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	13	cd04377	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	13	cd04387	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	13	cd04406	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	13	cd04403	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	13	cd04407	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	13	cd04408	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	13	cd04398	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	13	cd04372	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	8_G	cd04381	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	31	cd04396	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	10	cd04374	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	6	cd04376	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	17	cd04386	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	15	cd04402	NULL
1123	209364623	Disease	p.Pro252Gln	118423.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	10	cd04385	NULL
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	43	cd04376	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	46_G	cd04388	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	35	pfam00620	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	44	cd00159	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	66_G	cd04397	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	54	cd04379	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	49	cd04398	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	49	cd04372	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	48	cd04378	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	48	cd04409	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	54	cd04389	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	47	cd04377	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	48	cd04387	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	47	cd04406	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	48	cd04403	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	47	cd04407	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	48	cd04408	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	52	cd04375	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	52	cd04386	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	48	cd04402	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	48	cd04385	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	53	cd04393	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	52	cd04383	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	54	cd04390	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	49	cd04384	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	52	cd04381	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	66	cd04396	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	45	smart00324	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	42	cd04392	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	64	cd04374	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	55	cd04394	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	54	cd04395	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	56	cd04391	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	56	cd04400	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	54	cd04373	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	54	cd04382	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	56	cd04404	4502813,NP_001813
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	80	cd04375	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	78	cd04373	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	76	cd04394	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	82	cd04395	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	85	cd04391	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	95	cd04400	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	78	cd04382	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	102	cd04404	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	76	cd04393	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	77	cd04383	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	75	cd04384	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	77	cd04390	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	80	cd04379	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	83	cd04397	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	71	cd04378	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	74	cd04409	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	78	cd04389	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	72	cd04377	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	73	cd04387	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	70	cd04406	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	91	cd04403	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	70	cd04407	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	71	cd04408	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	82	cd04398	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	75	cd04372	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	75	cd04381	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	94	cd04396	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	95	cd04374	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	71	cd04376	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	66	cd04392	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	150	smart00324	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	77	cd04386	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	73	cd04402	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	74	cd04385	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	88	cd00159	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	82	pfam00620	NULL
1123	209364623	Disease	p.Glu313Lys	118423.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118423	DUANE RETRACTION SYNDROME 2	OMIM	69	cd04388	NULL
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	62	cd03339	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	52	COG0459	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	47	cd03344	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	45	cd03338	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	51	cd00309	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	40	pfam00118	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	53	cd03337	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	53_G	cd03343	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	56	cd03336	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	55	cd03340	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	49	cd03342	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	62	cd03339	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	52	COG0459	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	47	cd03344	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	45	cd03338	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	51	cd00309	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	40	pfam00118	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	53	cd03337	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	53_G	cd03343	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	56	cd03336	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	55	cd03340	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val72Ile	118190.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	SPASTIC PARAPLEGIA 13	OMIM	49	cd03342	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	118190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	LEUKODYSTROPHY, HYPOMYELINATING, 4	OMIM	5	COG0459	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	118190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	LEUKODYSTROPHY, HYPOMYELINATING, 4	OMIM	2	cd03344	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	118190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	LEUKODYSTROPHY, HYPOMYELINATING, 4	OMIM	2	cd03338	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	118190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	LEUKODYSTROPHY, HYPOMYELINATING, 4	OMIM	2	cd00309	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	118190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	LEUKODYSTROPHY, HYPOMYELINATING, 4	OMIM	10	cd03337	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	118190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	LEUKODYSTROPHY, HYPOMYELINATING, 4	OMIM	12_G	cd03343	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	118190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	LEUKODYSTROPHY, HYPOMYELINATING, 4	OMIM	8	cd03336	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	118190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	LEUKODYSTROPHY, HYPOMYELINATING, 4	OMIM	7	cd03342	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	118190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	LEUKODYSTROPHY, HYPOMYELINATING, 4	OMIM	5	COG0459	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	118190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	LEUKODYSTROPHY, HYPOMYELINATING, 4	OMIM	2	cd03344	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	118190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	LEUKODYSTROPHY, HYPOMYELINATING, 4	OMIM	2	cd03338	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	118190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	LEUKODYSTROPHY, HYPOMYELINATING, 4	OMIM	2	cd00309	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	118190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	LEUKODYSTROPHY, HYPOMYELINATING, 4	OMIM	10	cd03337	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	118190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	LEUKODYSTROPHY, HYPOMYELINATING, 4	OMIM	12_G	cd03343	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	118190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	LEUKODYSTROPHY, HYPOMYELINATING, 4	OMIM	8	cd03336	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	118190.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118190	LEUKODYSTROPHY, HYPOMYELINATING, 4	OMIM	7	cd03342	31542947,NP_002147|41399285,NP_955472
1509	115717	Disease	p.Phe229Ile	116840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	148	cd05488	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	116840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	147	cd05487	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	116840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	149	cd06098	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	116840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	151	cd05485	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	116840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	188	pfam00026	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	116840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	171	cd05475	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	116840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	216	cd05476	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	116840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	176	cd05472	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	116840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	178	cd06097	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	116840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	138	cd05486	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	116840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	337	cd05471	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	116840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	141	cd05473	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	116840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	148	cd05478	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	116840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	342	cd05474	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	116840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	157	cd05490	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	116840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	202	cd06096	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	116840.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	141	cd05477	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	116840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	306	cd05488	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	116840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	304	cd05487	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	116840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	413	cd06098	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	116840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	315	cd05485	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	116840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	484	pfam00026	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	116840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	364	cd05475	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	116840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	588	cd05476	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	116840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	370_G	cd05472	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	116840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	422	cd06097	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	116840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	291	cd05486	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	116840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	875	cd05471	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	116840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	353_G	cd05473	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	116840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	297	cd05478	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	116840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	601	cd05474	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	116840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	311	cd05490	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	116840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	566_G	cd06096	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	116840.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116840	CEROID LIPOFUSCINOSIS, NEURONAL, 10	OMIM	293	cd05477	4503143,NP_001900
1499	461854	Disease	p.Asp32Gly	116806.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806	PILOMATRICOMA, SOMATIC	OMIM	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Asp32Gly	116806.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806	PILOMATRICOMA, SOMATIC	OMIM	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Asp32Gly	116806.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806	PILOMATRICOMA, SOMATIC	OMIM	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Gly34Glu	116806.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806	PILOMATRICOMA, SOMATIC	OMIM	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Gly34Glu	116806.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806	PILOMATRICOMA, SOMATIC	OMIM	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Gly34Glu	116806.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806	PILOMATRICOMA, SOMATIC	OMIM	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Ser37Cys	116806.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806	PILOMATRICOMA, SOMATIC	OMIM	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Ser37Cys	116806.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806	PILOMATRICOMA, SOMATIC	OMIM	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Ser37Cys	116806.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806	PILOMATRICOMA, SOMATIC	OMIM	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Ser37Phe	116806.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806	PILOMATRICOMA, SOMATIC	OMIM	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Ser37Phe	116806.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806	PILOMATRICOMA, SOMATIC	OMIM	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Ser37Phe	116806.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806	PILOMATRICOMA, SOMATIC	OMIM	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Thr41Ile	116806.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806	PILOMATRICOMA, SOMATIC	OMIM	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Thr41Ile	116806.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806	PILOMATRICOMA, SOMATIC	OMIM	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Thr41Ile	116806.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806	PILOMATRICOMA, SOMATIC	OMIM	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
79742	193804856	Disease	p.Ser45Pro	116806.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806	MOVED TO 116806.0007	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Ser45Pro	116806.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806	MOVED TO 116806.0007	OMIM	No Domain	N/A	193804854,NP_789789
1499	461854	Disease	p.Asp32Tyr	116806.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806	PILOMATRICOMA, SOMATIC	OMIM	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Asp32Tyr	116806.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806	PILOMATRICOMA, SOMATIC	OMIM	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Asp32Tyr	116806.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116806	PILOMATRICOMA, SOMATIC	OMIM	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1312	116907	Disease	p.Val158Met	116790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM	OMIM	98	pfam01596	4502969,NP_000745|205830453,NP_001128634|205830451,NP_001128633
1312	116907	Disease	p.Val158Met	116790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM	OMIM	133	COG4122	4502969,NP_000745|205830453,NP_001128634|205830451,NP_001128633
1312	116907	Disease	p.Val158Met	116790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM	OMIM	143	cd02440	4502969,NP_000745|205830453,NP_001128634|205830451,NP_001128633
1312	6466450	Disease	p.Val158Met	116790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM	OMIM	188	COG4122	NULL
1312	6466450	Disease	p.Val158Met	116790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM	OMIM	335	cd02440	NULL
1312	6466450	Disease	p.Val158Met	116790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM	OMIM	148	pfam01596	NULL
1312	116907	Disease	p.Val158Met	116790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM	OMIM	98	pfam01596	4502969,NP_000745|205830453,NP_001128634|205830451,NP_001128633
1312	116907	Disease	p.Val158Met	116790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM	OMIM	133	COG4122	4502969,NP_000745|205830453,NP_001128634|205830451,NP_001128633
1312	116907	Disease	p.Val158Met	116790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM	OMIM	143	cd02440	4502969,NP_000745|205830453,NP_001128634|205830451,NP_001128633
1312	116907	Disease	p.Val158Met	116790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM	OMIM	98	pfam01596	4502969,NP_000745|205830453,NP_001128634|205830451,NP_001128633
1312	116907	Disease	p.Val158Met	116790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM	OMIM	133	COG4122	4502969,NP_000745|205830453,NP_001128634|205830451,NP_001128633
1312	116907	Disease	p.Val158Met	116790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM	OMIM	143	cd02440	4502969,NP_000745|205830453,NP_001128634|205830451,NP_001128633
1312	116907	Disease	p.Ala72Ser	116790.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	SCHIZOPHRENIA, SUSCEPTIBILITY TO	OMIM	10	pfam01596	4502969,NP_000745|205830453,NP_001128634|205830451,NP_001128633
1312	116907	Disease	p.Ala72Ser	116790.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	SCHIZOPHRENIA, SUSCEPTIBILITY TO	OMIM	25	COG4122	4502969,NP_000745|205830453,NP_001128634|205830451,NP_001128633
1312	6466450	Disease	p.Ala72Ser	116790.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	SCHIZOPHRENIA, SUSCEPTIBILITY TO	OMIM	92	COG4122	NULL
1312	6466450	Disease	p.Ala72Ser	116790.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	SCHIZOPHRENIA, SUSCEPTIBILITY TO	OMIM	12	cd02440	NULL
1312	6466450	Disease	p.Ala72Ser	116790.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	SCHIZOPHRENIA, SUSCEPTIBILITY TO	OMIM	62	pfam01596	NULL
1312	116907	Disease	p.Ala72Ser	116790.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	SCHIZOPHRENIA, SUSCEPTIBILITY TO	OMIM	10	pfam01596	4502969,NP_000745|205830453,NP_001128634|205830451,NP_001128633
1312	116907	Disease	p.Ala72Ser	116790.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	SCHIZOPHRENIA, SUSCEPTIBILITY TO	OMIM	25	COG4122	4502969,NP_000745|205830453,NP_001128634|205830451,NP_001128633
1312	116907	Disease	p.Ala72Ser	116790.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	SCHIZOPHRENIA, SUSCEPTIBILITY TO	OMIM	10	pfam01596	4502969,NP_000745|205830453,NP_001128634|205830451,NP_001128633
1312	116907	Disease	p.Ala72Ser	116790.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116790	SCHIZOPHRENIA, SUSCEPTIBILITY TO	OMIM	25	COG4122	4502969,NP_000745|205830453,NP_001128634|205830451,NP_001128633
7306	12644141	Disease	p.Arg356Glu	115501.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=115501	ALBINISM, OCULOCUTANEOUS, TYPE III	OMIM	738	pfam00264	4507757,NP_000541
1066	119576	Disease	p.Gly143Glu	114835.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114835	CARBOXYLESTERASE 1 DEFICIENCY	OMIM	237	pfam00135	68508965,NP_001020365
1066	119576	Disease	p.Gly143Glu	114835.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114835	CARBOXYLESTERASE 1 DEFICIENCY	OMIM	144	cd00312	68508965,NP_001020365
1066	119576	Disease	p.Gly143Glu	114835.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114835	CARBOXYLESTERASE 1 DEFICIENCY	OMIM	135	COG2272	68508965,NP_001020365
1066	119576	Disease	p.Gly143Glu	114835.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114835	CARBOXYLESTERASE 1 DEFICIENCY	OMIM	8	pfam07859	68508965,NP_001020365
1066	119576	Disease	p.Gly143Glu	114835.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114835	CARBOXYLESTERASE 1 DEFICIENCY	OMIM	163	COG0657	68508965,NP_001020365
1066	68508957	Disease	p.Gly143Glu	114835.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114835	CARBOXYLESTERASE 1 DEFICIENCY	OMIM	237	pfam00135	NULL
1066	68508957	Disease	p.Gly143Glu	114835.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114835	CARBOXYLESTERASE 1 DEFICIENCY	OMIM	144	cd00312	NULL
1066	68508957	Disease	p.Gly143Glu	114835.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114835	CARBOXYLESTERASE 1 DEFICIENCY	OMIM	135	COG2272	NULL
1066	68508957	Disease	p.Gly143Glu	114835.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114835	CARBOXYLESTERASE 1 DEFICIENCY	OMIM	8	pfam07859	NULL
1066	68508957	Disease	p.Gly143Glu	114835.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114835	CARBOXYLESTERASE 1 DEFICIENCY	OMIM	163	COG0657	NULL
1066	68508967	Disease	p.Gly143Glu	114835.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114835	CARBOXYLESTERASE 1 DEFICIENCY	OMIM	7	pfam07859	NULL
1066	68508967	Disease	p.Gly143Glu	114835.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114835	CARBOXYLESTERASE 1 DEFICIENCY	OMIM	162	COG0657	NULL
1066	68508967	Disease	p.Gly143Glu	114835.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114835	CARBOXYLESTERASE 1 DEFICIENCY	OMIM	236	pfam00135	NULL
1066	68508967	Disease	p.Gly143Glu	114835.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114835	CARBOXYLESTERASE 1 DEFICIENCY	OMIM	134	COG2272	NULL
1066	68508967	Disease	p.Gly143Glu	114835.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114835	CARBOXYLESTERASE 1 DEFICIENCY	OMIM	143	cd00312	NULL
767	461681	Disease	p.Ser100Pro	114815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114815	CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3	OMIM	80	cd03119	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	114815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114815	CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3	OMIM	110	cd03124	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	114815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114815	CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3	OMIM	130	COG3338	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	114815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114815	CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3	OMIM	69	cd03123	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	114815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114815	CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3	OMIM	111	cd03122	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	114815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114815	CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3	OMIM	69	cd03150	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	114815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114815	CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3	OMIM	69	cd03125	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	114815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114815	CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3	OMIM	67	cd03120	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	114815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114815	CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3	OMIM	137	cd00326	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	114815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114815	CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3	OMIM	56	cd03149	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	114815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114815	CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3	OMIM	56	cd03118	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	114815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114815	CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3	OMIM	71	cd03117	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	114815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114815	CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3	OMIM	69	cd03126	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	114815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114815	CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3	OMIM	142	cd03121	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	114815.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114815	CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3	OMIM	65	pfam00194	22027500,NP_004047
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	274	COG3338	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	252	pfam00194	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	230	cd03118	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	230	cd03149	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	277	cd03117	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	640	cd00326	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	314	cd03125	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	244	cd03126	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	238	cd03150	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	250	cd03120	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	319	cd03123	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	297	cd03122	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	585	cd03124	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	360	cd03121	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	255	cd03119	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	274	COG3338	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	252	pfam00194	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	230	cd03118	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	230	cd03149	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	277	cd03117	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	640	cd00326	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	314	cd03125	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	244	cd03126	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	238	cd03150	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	250	cd03120	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	319	cd03123	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	297	cd03122	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	585	cd03124	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	360	cd03121	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	255	cd03119	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	274	COG3338	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	252	pfam00194	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	230	cd03118	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	230	cd03149	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	277	cd03117	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	640	cd00326	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	314	cd03125	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	244	cd03126	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	238	cd03150	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	250	cd03120	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	319	cd03123	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	297	cd03122	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	585	cd03124	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	360	cd03121	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	255	cd03119	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	274	COG3338	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	252	pfam00194	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	230	cd03118	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	230	cd03149	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	277	cd03117	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	640	cd00326	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	314	cd03125	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	244	cd03126	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	238	cd03150	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	250	cd03120	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	319	cd03123	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	297	cd03122	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	585	cd03124	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	360	cd03121	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	255	cd03119	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	274	COG3338	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	252	pfam00194	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	230	cd03118	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	230	cd03149	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	277	cd03117	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	640	cd00326	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	314	cd03125	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	244	cd03126	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	238	cd03150	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	250	cd03120	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	319	cd03123	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	297	cd03122	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	585	cd03124	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	360	cd03121	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Gly253Arg	114800.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I, GUAM	OMIM	255	cd03119	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	267	COG3338	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	245	pfam00194	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	223	cd03118	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	223	cd03149	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	270	cd03117	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	633	cd00326	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	300	cd03125	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	237	cd03126	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	231	cd03150	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	243	cd03120	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	312	cd03123	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	290	cd03122	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	578	cd03124	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	353	cd03121	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	248	cd03119	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	267	COG3338	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	245	pfam00194	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	223	cd03118	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	223	cd03149	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	270	cd03117	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	633	cd00326	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	300	cd03125	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	237	cd03126	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	231	cd03150	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	243	cd03120	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	312	cd03123	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	290	cd03122	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	578	cd03124	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	353	cd03121	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	248	cd03119	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	267	COG3338	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	245	pfam00194	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	223	cd03118	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	223	cd03149	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	270	cd03117	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	633	cd00326	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	300	cd03125	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	237	cd03126	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	231	cd03150	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	243	cd03120	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	312	cd03123	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	290	cd03122	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	578	cd03124	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	353	cd03121	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	248	cd03119	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	267	COG3338	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	245	pfam00194	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	223	cd03118	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	223	cd03149	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	270	cd03117	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	633	cd00326	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	300	cd03125	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	237	cd03126	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	231	cd03150	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	243	cd03120	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	312	cd03123	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	290	cd03122	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	578	cd03124	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	353	cd03121	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	248	cd03119	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	267	COG3338	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	245	pfam00194	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	223	cd03118	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	223	cd03149	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	270	cd03117	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	633	cd00326	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	300	cd03125	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	237	cd03126	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	231	cd03150	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	243	cd03120	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	312	cd03123	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	290	cd03122	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	578	cd03124	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	353	cd03121	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
759	115449	Disease	p.Arg246His	114800.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114800	CARBONIC ANHYDRASE I DEFICIENCY	OMIM	248	cd03119	4502517,NP_001729|258679498,NP_001158302|192447432,NP_001122302|192447434,NP_001122303|192447430,NP_001122301
762	115465	Disease	p.Arg14Trp	114760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	19	COG3338	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	114760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	185	cd03120	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	114760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	258	cd03125	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	114760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	258	cd03123	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	114760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	188	pfam00194	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	114760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	183	cd03126	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	114760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	214	cd03117	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	114760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	561	cd00326	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	114760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	289	cd03121	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	114760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	515	cd03124	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	114760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	232	cd03122	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	114760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	224	COG3338	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	114760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	169	cd03149	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	114760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	170	cd03118	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	114760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	182	cd03150	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	114760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	194	cd03119	4502519,NP_000708
762	115465	Disease	p.Arg69His	114760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	34	cd03120	4502519,NP_000708
762	115465	Disease	p.Arg69His	114760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	35	cd03125	4502519,NP_000708
762	115465	Disease	p.Arg69His	114760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	35	cd03123	4502519,NP_000708
762	115465	Disease	p.Arg69His	114760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	29	pfam00194	4502519,NP_000708
762	115465	Disease	p.Arg69His	114760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	35	cd03126	4502519,NP_000708
762	115465	Disease	p.Arg69His	114760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	31	cd03117	4502519,NP_000708
762	115465	Disease	p.Arg69His	114760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	67	cd00326	4502519,NP_000708
762	115465	Disease	p.Arg69His	114760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	78	cd03121	4502519,NP_000708
762	115465	Disease	p.Arg69His	114760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	64	cd03124	4502519,NP_000708
762	115465	Disease	p.Arg69His	114760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	59	cd03122	4502519,NP_000708
762	115465	Disease	p.Arg69His	114760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	98	COG3338	4502519,NP_000708
762	115465	Disease	p.Arg69His	114760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	22	cd03149	4502519,NP_000708
762	115465	Disease	p.Arg69His	114760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	22	cd03118	4502519,NP_000708
762	115465	Disease	p.Arg69His	114760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	35	cd03150	4502519,NP_000708
762	115465	Disease	p.Arg69His	114760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114760	RETINITIS PIGMENTOSA 17	OMIM	46	cd03119	4502519,NP_000708
845	23503043	Disease	p.Asp307His	114251.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114251	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2	OMIM	286	pfam01216	119395727,NP_001223
845	23503043	Disease	p.Asp307His	114251.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114251	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2	OMIM	68	cd02982	119395727,NP_001223
845	23503043	Disease	p.Asp307His	114251.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114251	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2	OMIM	63	cd03074	119395727,NP_001223
845	23503043	Disease	p.Leu167His	114251.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114251	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2	OMIM	146	pfam01216	119395727,NP_001223
845	23503043	Disease	p.Leu167His	114251.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114251	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2	OMIM	24	cd03066	119395727,NP_001223
845	23503043	Disease	p.Leu167His	114251.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114251	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2	OMIM	23	cd03068	119395727,NP_001223
845	23503043	Disease	p.Leu167His	114251.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114251	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2	OMIM	26	cd02981	119395727,NP_001223
825	27765076	Disease	p.Arg769Gln	114240.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, AMISH	OMIM	No Domain	N/A	NULL
825	27765072	Disease	p.Arg769Gln	114240.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, AMISH	OMIM	No Domain	N/A	NULL
825	1345664	Disease	p.Arg769Gln	114240.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, AMISH	OMIM	No Domain	N/A	4557405,NP_000061
825	27765074	Disease	p.Arg769Gln	114240.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, AMISH	OMIM	No Domain	N/A	NULL
825	47078247	Disease	p.Arg769Gln	114240.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, AMISH	OMIM	No Domain	N/A	NULL
825	27765078	Disease	p.Arg769Gln	114240.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, AMISH	OMIM	No Domain	N/A	NULL
825	27765080	Disease	p.Arg769Gln	114240.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, AMISH	OMIM	No Domain	N/A	NULL
825	27765076	Disease	p.Arg572Gln	114240.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	No Domain	N/A	NULL
825	27765072	Disease	p.Arg572Gln	114240.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	201	cd00214	NULL
825	27765072	Disease	p.Arg572Gln	114240.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	328	pfam01067	NULL
825	27765072	Disease	p.Arg572Gln	114240.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	216	smart00720	NULL
825	1345664	Disease	p.Arg572Gln	114240.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	328	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Arg572Gln	114240.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	216	smart00720	4557405,NP_000061
825	1345664	Disease	p.Arg572Gln	114240.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	201	cd00214	4557405,NP_000061
825	27765074	Disease	p.Arg572Gln	114240.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	No Domain	N/A	NULL
825	47078247	Disease	p.Arg572Gln	114240.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	No Domain	N/A	NULL
825	27765078	Disease	p.Arg572Gln	114240.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	No Domain	N/A	NULL
825	27765080	Disease	p.Arg572Gln	114240.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	No Domain	N/A	NULL
825	27765076	Disease	p.Ser86Phe	114240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	No Domain	N/A	NULL
825	27765072	Disease	p.Ser86Phe	114240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	13	pfam00648	NULL
825	27765072	Disease	p.Ser86Phe	114240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	24	cd00044	NULL
825	27765072	Disease	p.Ser86Phe	114240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	29	smart00230	NULL
825	1345664	Disease	p.Ser86Phe	114240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	13	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Ser86Phe	114240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	24	cd00044	4557405,NP_000061
825	1345664	Disease	p.Ser86Phe	114240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	29	smart00230	4557405,NP_000061
825	27765074	Disease	p.Ser86Phe	114240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	13	pfam00648	NULL
825	27765074	Disease	p.Ser86Phe	114240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	24	cd00044	NULL
825	27765074	Disease	p.Ser86Phe	114240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	29	smart00230	NULL
825	47078247	Disease	p.Ser86Phe	114240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	116	pfam00648	NULL
825	47078247	Disease	p.Ser86Phe	114240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	205	cd00044	NULL
825	47078247	Disease	p.Ser86Phe	114240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	152	smart00230	NULL
825	27765078	Disease	p.Ser86Phe	114240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	26	pfam00036	NULL
825	27765078	Disease	p.Ser86Phe	114240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	26	smart00054	NULL
825	27765078	Disease	p.Ser86Phe	114240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	80	cd00051	NULL
825	27765080	Disease	p.Ser86Phe	114240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	26	pfam00036	NULL
825	27765080	Disease	p.Ser86Phe	114240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	26	smart00054	NULL
825	27765080	Disease	p.Ser86Phe	114240.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	80	cd00051	NULL
825	27765076	Disease	p.Pro319Leu	114240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	No Domain	N/A	NULL
825	27765072	Disease	p.Pro319Leu	114240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	267	pfam00648	NULL
825	27765072	Disease	p.Pro319Leu	114240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	365_G	cd00044	NULL
825	27765072	Disease	p.Pro319Leu	114240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	318	smart00230	NULL
825	1345664	Disease	p.Pro319Leu	114240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	267	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Pro319Leu	114240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	365_G	cd00044	4557405,NP_000061
825	1345664	Disease	p.Pro319Leu	114240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	318	smart00230	4557405,NP_000061
825	27765074	Disease	p.Pro319Leu	114240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	321	pfam00648	NULL
825	27765074	Disease	p.Pro319Leu	114240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	424	cd00044	NULL
825	27765074	Disease	p.Pro319Leu	114240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	391	smart00230	NULL
825	47078247	Disease	p.Pro319Leu	114240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	360	pfam00648	NULL
825	47078247	Disease	p.Pro319Leu	114240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	467	cd00044	NULL
825	47078247	Disease	p.Pro319Leu	114240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	436	smart00230	NULL
825	27765078	Disease	p.Pro319Leu	114240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	No Domain	N/A	NULL
825	27765080	Disease	p.Pro319Leu	114240.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	No Domain	N/A	NULL
825	27765076	Disease	p.Trp360Arg	114240.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	No Domain	N/A	NULL
825	27765072	Disease	p.Trp360Arg	114240.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	313	pfam00648	NULL
825	27765072	Disease	p.Trp360Arg	114240.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	417	cd00044	NULL
825	27765072	Disease	p.Trp360Arg	114240.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	383	smart00230	NULL
825	1345664	Disease	p.Trp360Arg	114240.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	313	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Trp360Arg	114240.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	417	cd00044	4557405,NP_000061
825	1345664	Disease	p.Trp360Arg	114240.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	383	smart00230	4557405,NP_000061
825	27765074	Disease	p.Trp360Arg	114240.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	362	pfam00648	NULL
825	27765074	Disease	p.Trp360Arg	114240.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	469	cd00044	NULL
825	27765074	Disease	p.Trp360Arg	114240.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	438	smart00230	NULL
825	47078247	Disease	p.Trp360Arg	114240.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	28	smart00720	NULL
825	47078247	Disease	p.Trp360Arg	114240.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	29	cd00214	NULL
825	47078247	Disease	p.Trp360Arg	114240.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	42	pfam01067	NULL
825	27765078	Disease	p.Trp360Arg	114240.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	No Domain	N/A	NULL
825	27765080	Disease	p.Trp360Arg	114240.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	No Domain	N/A	NULL
825	27765076	Disease	p.Arg490Gln	114240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	No Domain	N/A	NULL
825	27765072	Disease	p.Arg490Gln	114240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	94	cd00214	NULL
825	27765072	Disease	p.Arg490Gln	114240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	167	pfam01067	NULL
825	27765072	Disease	p.Arg490Gln	114240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	108	smart00720	NULL
825	1345664	Disease	p.Arg490Gln	114240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	167	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Arg490Gln	114240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	108	smart00720	4557405,NP_000061
825	1345664	Disease	p.Arg490Gln	114240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	94	cd00214	4557405,NP_000061
825	27765074	Disease	p.Arg490Gln	114240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	179	smart00720	NULL
825	27765074	Disease	p.Arg490Gln	114240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	164	cd00214	NULL
825	27765074	Disease	p.Arg490Gln	114240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	289	pfam01067	NULL
825	47078247	Disease	p.Arg490Gln	114240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	221	smart00720	NULL
825	47078247	Disease	p.Arg490Gln	114240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	206	cd00214	NULL
825	47078247	Disease	p.Arg490Gln	114240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	333	pfam01067	NULL
825	27765078	Disease	p.Arg490Gln	114240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	No Domain	N/A	NULL
825	27765080	Disease	p.Arg490Gln	114240.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114240	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A	OMIM	No Domain	N/A	NULL
779	209572767	Disease	p.Arg1239His	114208.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114208	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1	OMIM	133	pfam00520	110349767,NP_000060
779	209572767	Disease	p.Arg1239Gly	114208.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114208	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1	OMIM	133	pfam00520	110349767,NP_000060
779	209572767	Disease	p.Arg528His	114208.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114208	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1	OMIM	130	pfam00520	110349767,NP_000060
779	209572767	Disease	p.Arg1086His	114208.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114208	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5	OMIM	No Domain	N/A	110349767,NP_000060
779	209572767	Disease	p.Arg897Ser	114208.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114208	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1	OMIM	133	pfam00520	110349767,NP_000060
779	209572767	Disease	p.Val876Glu	114208.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114208	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1	OMIM	61	pfam00520	110349767,NP_000060
775	193788536	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	193788548	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	308153651	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	193788720,NP_955630
775	193788532	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	193788542	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	193788724	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	193788730	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	193788526	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	193794828	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	193788534	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	264681416	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	193788728	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	193788544	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	193788528	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	264681418	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	193794832	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	193788732	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	193788530	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	193794830	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	193788540	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	193788538	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	264681420	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	120433602	Disease	p.Gly406Arg	114205.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	193788536	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	193788548	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	308153651	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	193788720,NP_955630
775	193788532	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	193788542	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	193788724	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	193788730	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	193788526	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	193794828	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	193788534	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	264681416	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	193788728	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	193788544	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	No Domain	N/A	NULL
775	193788528	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	264681418	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	193794832	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	193788732	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	193788530	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	193794830	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	193788540	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	193788538	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	264681420	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	120433602	Disease	p.Gly402Ser	114205.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	TIMOTHY SYNDROME	OMIM	405	pfam00520	NULL
775	193788536	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788548	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	308153651	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	193788720,NP_955630
775	193788532	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788542	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788724	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788730	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788526	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193794828	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788534	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	264681416	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788728	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788544	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788528	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	264681418	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193794832	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788732	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788530	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193794830	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788540	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788538	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	264681420	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	120433602	Disease	p.Gly490Arg	114205.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788536	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788548	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	308153651	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	193788720,NP_955630
775	193788532	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788542	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788724	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788730	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788526	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193794828	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788534	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	264681416	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788728	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788544	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788528	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	264681418	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193794832	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788732	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788530	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193794830	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788540	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	193788538	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	264681420	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
775	120433602	Disease	p.Ala39Val	114205.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205	BRUGADA SYNDROME 3	OMIM	No Domain	N/A	NULL
799	260064024	Disease	p.Pro463Leu	114131.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114131	OSTEOPOROSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
799	4502547	Disease	p.Pro463Leu	114131.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114131	OSTEOPOROSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
799	260064027	Disease	p.Pro463Leu	114131.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114131	OSTEOPOROSIS, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
1013	1705553	Disease	p.Arg503His	114021.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114021	HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY	OMIM	20	pfam00028	4826669,NP_004924
1013	1705553	Disease	p.Asn322Ile	114021.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114021	ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY	OMIM	92	cd00031	4826669,NP_004924
1013	1705553	Disease	p.Asn322Ile	114021.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114021	ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY	OMIM	70	pfam00028	4826669,NP_004924
1013	1705553	Disease	p.Asn322Ile	114021.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114021	ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY	OMIM	63	smart00112	4826669,NP_004924
1013	1705553	Disease	p.Arg60Cys	114019.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114019	MENTAL RETARDATION, AUTOSOMAL DOMINANT 3	OMIM	15	pfam00028	4826669,NP_004924
1013	1705553	Disease	p.Arg60Cys	114019.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114019	MENTAL RETARDATION, AUTOSOMAL DOMINANT 3	OMIM	12	cd00031	4826669,NP_004924
1013	1705553	Disease	p.Arg92Trp	114019.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114019	MENTAL RETARDATION, AUTOSOMAL DOMINANT 3	OMIM	50	pfam00028	4826669,NP_004924
1013	1705553	Disease	p.Arg92Trp	114019.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114019	MENTAL RETARDATION, AUTOSOMAL DOMINANT 3	OMIM	41	smart00112	4826669,NP_004924
1013	1705553	Disease	p.Arg92Trp	114019.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114019	MENTAL RETARDATION, AUTOSOMAL DOMINANT 3	OMIM	72	cd00031	4826669,NP_004924
1013	1705553	Disease	p.Ala122Val	114019.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114019	MENTAL RETARDATION, AUTOSOMAL DOMINANT 3	OMIM	99	pfam00028	4826669,NP_004924
1013	1705553	Disease	p.Ala122Val	114019.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114019	MENTAL RETARDATION, AUTOSOMAL DOMINANT 3	OMIM	93	smart00112	4826669,NP_004924
1013	1705553	Disease	p.Ala122Val	114019.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114019	MENTAL RETARDATION, AUTOSOMAL DOMINANT 3	OMIM	130	cd00031	4826669,NP_004924
1308	146345399	Disease	p.Arg1303Gln	113811.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113811	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT	OMIM	No Domain	N/A	119829187,NP_000485
1308	146345399	Disease	p.Gly633Asp	113811.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113811	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	OMIM	7	pfam01391	119829187,NP_000485
627	25306261	Disease	p.Thr2Ile	113505.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	OMIM	No Domain	N/A	NULL
627	219842298	Disease	p.Thr2Ile	113505.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	OMIM	No Domain	N/A	NULL
627	114900	Disease	p.Thr2Ile	113505.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	219842296	Disease	p.Thr2Ile	113505.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	OMIM	No Domain	N/A	NULL
627	114900	Disease	p.Thr2Ile	113505.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	25306235	Disease	p.Thr2Ile	113505.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	OMIM	No Domain	N/A	NULL
627	114900	Disease	p.Thr2Ile	113505.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	114900	Disease	p.Thr2Ile	113505.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	114900	Disease	p.Thr2Ile	113505.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	114900	Disease	p.Thr2Ile	113505.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	114900	Disease	p.Thr2Ile	113505.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	114900	Disease	p.Thr2Ile	113505.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	114900	Disease	p.Thr2Ile	113505.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	114900	Disease	p.Thr2Ile	113505.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	114900	Disease	p.Thr2Ile	113505.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	114900	Disease	p.Thr2Ile	113505.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	114900	Disease	p.Thr2Ile	113505.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	25306261	Disease	p.Val66Met	113505.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	MEMORY IMPAIRMENT, SUSCEPTIBILITY TO||OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST||ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2||BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2||BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO||PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
627	219842298	Disease	p.Val66Met	113505.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	MEMORY IMPAIRMENT, SUSCEPTIBILITY TO||OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST||ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2||BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2||BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO||PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
627	114900	Disease	p.Val66Met	113505.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	MEMORY IMPAIRMENT, SUSCEPTIBILITY TO||OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST||ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2||BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2||BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO||PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	219842296	Disease	p.Val66Met	113505.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	MEMORY IMPAIRMENT, SUSCEPTIBILITY TO||OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST||ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2||BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2||BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO||PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
627	114900	Disease	p.Val66Met	113505.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	MEMORY IMPAIRMENT, SUSCEPTIBILITY TO||OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST||ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2||BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2||BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO||PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	25306235	Disease	p.Val66Met	113505.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	MEMORY IMPAIRMENT, SUSCEPTIBILITY TO||OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST||ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2||BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2||BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO||PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
627	114900	Disease	p.Val66Met	113505.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	MEMORY IMPAIRMENT, SUSCEPTIBILITY TO||OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST||ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2||BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2||BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO||PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	114900	Disease	p.Val66Met	113505.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	MEMORY IMPAIRMENT, SUSCEPTIBILITY TO||OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST||ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2||BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2||BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO||PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	114900	Disease	p.Val66Met	113505.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	MEMORY IMPAIRMENT, SUSCEPTIBILITY TO||OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST||ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2||BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2||BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO||PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	114900	Disease	p.Val66Met	113505.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	MEMORY IMPAIRMENT, SUSCEPTIBILITY TO||OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST||ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2||BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2||BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO||PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	114900	Disease	p.Val66Met	113505.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	MEMORY IMPAIRMENT, SUSCEPTIBILITY TO||OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST||ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2||BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2||BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO||PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	114900	Disease	p.Val66Met	113505.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	MEMORY IMPAIRMENT, SUSCEPTIBILITY TO||OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST||ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2||BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2||BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO||PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	114900	Disease	p.Val66Met	113505.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	MEMORY IMPAIRMENT, SUSCEPTIBILITY TO||OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST||ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2||BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2||BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO||PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	114900	Disease	p.Val66Met	113505.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	MEMORY IMPAIRMENT, SUSCEPTIBILITY TO||OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST||ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2||BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2||BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO||PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	114900	Disease	p.Val66Met	113505.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	MEMORY IMPAIRMENT, SUSCEPTIBILITY TO||OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST||ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2||BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2||BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO||PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	114900	Disease	p.Val66Met	113505.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	MEMORY IMPAIRMENT, SUSCEPTIBILITY TO||OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST||ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2||BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2||BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO||PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
627	114900	Disease	p.Val66Met	113505.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113505	MEMORY IMPAIRMENT, SUSCEPTIBILITY TO||OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST||ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2||BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2||BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO||PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
652	115073	Disease	p.Glu93Gly	112262.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112262	MICROPHTHALMIA, SYNDROMIC 6	OMIM	145	pfam00688	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
652	115073	Disease	p.Glu93Gly	112262.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112262	MICROPHTHALMIA, SYNDROMIC 6	OMIM	145	pfam00688	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
652	115073	Disease	p.Glu93Gly	112262.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112262	MICROPHTHALMIA, SYNDROMIC 6	OMIM	145	pfam00688	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
652	115073	Disease	p.Ala346Val	112262.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112262	OROFACIAL CLEFT 11; OFC11	OMIM	40	smart00204	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
652	115073	Disease	p.Ala346Val	112262.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112262	OROFACIAL CLEFT 11; OFC11	OMIM	43	pfam00019	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
652	115073	Disease	p.Ala346Val	112262.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112262	OROFACIAL CLEFT 11; OFC11	OMIM	40	smart00204	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
652	115073	Disease	p.Ala346Val	112262.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112262	OROFACIAL CLEFT 11; OFC11	OMIM	43	pfam00019	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
652	115073	Disease	p.Ala346Val	112262.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112262	OROFACIAL CLEFT 11; OFC11	OMIM	40	smart00204	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
652	115073	Disease	p.Ala346Val	112262.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112262	OROFACIAL CLEFT 11; OFC11	OMIM	43	pfam00019	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
652	115073	Disease	p.Ser91Cys	112262.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112262	OROFACIAL CLEFT 11; OFC11	OMIM	143	pfam00688	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
652	115073	Disease	p.Ser91Cys	112262.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112262	OROFACIAL CLEFT 11; OFC11	OMIM	143	pfam00688	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
652	115073	Disease	p.Ser91Cys	112262.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112262	OROFACIAL CLEFT 11; OFC11	OMIM	143	pfam00688	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
652	115073	Disease	p.Arg287His	112262.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112262	OROFACIAL CLEFT 11; OFC11	OMIM	No Domain	N/A	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
652	115073	Disease	p.Arg287His	112262.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112262	OROFACIAL CLEFT 11; OFC11	OMIM	No Domain	N/A	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
652	115073	Disease	p.Arg287His	112262.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112262	OROFACIAL CLEFT 11; OFC11	OMIM	No Domain	N/A	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
6006	301129223	Disease	p.Pro226Ala	111700.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111700	RH E/e POLYMORPHISM	OMIM	263	pfam00909	NULL
6006	301129225	Disease	p.Pro226Ala	111700.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111700	RH E/e POLYMORPHISM	OMIM	455	pfam00909	NULL
6006	301129229	Disease	p.Pro226Ala	111700.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111700	RH E/e POLYMORPHISM	OMIM	400	pfam00909	NULL
6006	301129227	Disease	p.Pro226Ala	111700.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111700	RH E/e POLYMORPHISM	OMIM	263	pfam00909	NULL
6006	301129223	Disease	p.Ser103Pro	111700.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111700	RH C/c POLYMORPHISM	OMIM	120	pfam00909	NULL
6006	301129225	Disease	p.Ser103Pro	111700.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111700	RH C/c POLYMORPHISM	OMIM	120	pfam00909	NULL
6006	301129229	Disease	p.Ser103Pro	111700.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111700	RH C/c POLYMORPHISM	OMIM	120	pfam00909	NULL
6006	301129227	Disease	p.Ser103Pro	111700.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111700	RH C/c POLYMORPHISM	OMIM	120	pfam00909	NULL
6007	189095266	Disease	p.Leu110Pro	111680.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111680	RHD CATEGORY D-VII	OMIM	128	pfam00909	NULL
6007	20336225	Disease	p.Leu110Pro	111680.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111680	RHD CATEGORY D-VII	OMIM	128	pfam00909	NULL
6007	189095266	Disease	p.Val270Gly	111680.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111680	RHD, WEAK D, TYPE I	OMIM	321	pfam00909	NULL
6007	20336225	Disease	p.Val270Gly	111680.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111680	RHD, WEAK D, TYPE I	OMIM	321	pfam00909	NULL
2993	298286506	Disease	p.Gly59Arg	111300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111300	BLOOD GROUP ERIK	OMIM	47	pfam01102	NULL
3386	2497309	Disease	p.Gln70Arg	111250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111250	LW(a)/LW(b) BLOOD GROUP POLYMORPHISM	OMIM	46	pfam03921	4504561,NP_001535
3386	85068578	Disease	p.Gln70Arg	111250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111250	LW(a)/LW(b) BLOOD GROUP POLYMORPHISM	OMIM	46	pfam03921	NULL
3386	12545402	Disease	p.Gln70Arg	111250.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111250	LW(a)/LW(b) BLOOD GROUP POLYMORPHISM	OMIM	46	pfam03921	NULL
2525	121137	Disease	p.Leu20Arg	111100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111100	Le(-) PHENOTYPE	OMIM	8	pfam00852	148277014,NP_001091110|148277010,NP_001091108|4503809,NP_000140|148277012,NP_001091109
2525	121137	Disease	p.Leu20Arg	111100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111100	Le(-) PHENOTYPE	OMIM	8	pfam00852	148277014,NP_001091110|148277010,NP_001091108|4503809,NP_000140|148277012,NP_001091109
2525	121137	Disease	p.Leu20Arg	111100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111100	Le(-) PHENOTYPE	OMIM	8	pfam00852	148277014,NP_001091110|148277010,NP_001091108|4503809,NP_000140|148277012,NP_001091109
2525	121137	Disease	p.Leu20Arg	111100.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111100	Le(-) PHENOTYPE	OMIM	8	pfam00852	148277014,NP_001091110|148277010,NP_001091108|4503809,NP_000140|148277012,NP_001091109
6563	4033779	Disease	p.Ser291Pro	111000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111000	JK-NULL VARIANT, FINNISH TYPE	OMIM	247	COG4413	226371772,NP_001139508
6563	4033779	Disease	p.Ser291Pro	111000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111000	JK-NULL VARIANT, FINNISH TYPE	OMIM	278	pfam03253	226371772,NP_001139508
6563	289802991	Disease	p.Ser291Pro	111000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111000	JK-NULL VARIANT, FINNISH TYPE	OMIM	247	COG4413	NULL
6563	289802991	Disease	p.Ser291Pro	111000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111000	JK-NULL VARIANT, FINNISH TYPE	OMIM	278	pfam03253	NULL
6563	226371768	Disease	p.Ser291Pro	111000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111000	JK-NULL VARIANT, FINNISH TYPE	OMIM	191	COG4413	NULL
6563	226371768	Disease	p.Ser291Pro	111000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111000	JK-NULL VARIANT, FINNISH TYPE	OMIM	221	pfam03253	NULL
6563	225690519	Disease	p.Ser291Pro	111000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111000	JK-NULL VARIANT, FINNISH TYPE	OMIM	191	COG4413	NULL
6563	225690519	Disease	p.Ser291Pro	111000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=111000	JK-NULL VARIANT, FINNISH TYPE	OMIM	221	pfam03253	NULL
3792	1346376	Disease	p.Thr193Met	110900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110900	KELL K/k BLOOD GROUP POLYMORPHISM	OMIM	142	COG3590	4557691,NP_000411
3792	1346376	Disease	p.Thr193Met	110900.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110900	KELL K/k BLOOD GROUP POLYMORPHISM	OMIM	491	pfam05649	4557691,NP_000411
2995	121407	Disease	p.Asn8Ser	110750.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110750	GLYCOPHORIN D, WEBB VARIANT||BLOOD GROUP--WEBB ANTIGEN WB	OMIM	No Domain	N/A	4504229,NP_002092
2995	8051605	Disease	p.Asn8Ser	110750.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110750	GLYCOPHORIN D, WEBB VARIANT||BLOOD GROUP--WEBB ANTIGEN WB	OMIM	No Domain	N/A	NULL
2995	121407	Disease	p.Leu14Phe	110750.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110750	GLYCOPHORIN D, DUCH VARIANT||BLOOD GROUP DH	OMIM	No Domain	N/A	4504229,NP_002092
2995	8051605	Disease	p.Leu14Phe	110750.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110750	GLYCOPHORIN D, DUCH VARIANT||BLOOD GROUP DH	OMIM	No Domain	N/A	NULL
80199	74733071	Disease	p.Gly44Asp	110700.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110700	DUFFY a/DUFFY b POLYMORPHISM	OMIM	No Domain	N/A	20149693,NP_079405
80199	288541308	Disease	p.Gly44Asp	110700.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110700	DUFFY a/DUFFY b POLYMORPHISM	OMIM	No Domain	N/A	NULL
420	61835134	Disease	p.Asn265Asp	110600.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110600	DOMBROCK BLOOD GROUP	OMIM	259	pfam01129	NULL
28	114949	Disease	p.Gly268Ala	110300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110300	BLOOD GROUP CIS-AB	OMIM	191	cd02515	58331216,NP_065202
28	114949	Disease	p.Gly268Ala	110300.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110300	BLOOD GROUP CIS-AB	OMIM	256	pfam03414	58331216,NP_065202
28	114949	Disease	p.Pro234Ala	110300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110300	BLOOD GROUP B(A)	OMIM	157	cd02515	58331216,NP_065202
28	114949	Disease	p.Pro234Ala	110300.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=110300	BLOOD GROUP B(A)	OMIM	222	pfam03414	58331216,NP_065202
567	48428791	Disease	p.Ala11Pro	109700.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109700	HYPOPROTEINEMIA, HYPERCATABOLIC	OMIM	No Domain	N/A	4757826,NP_004039
155	461604	Disease	p.Trp64Arg	109691.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109691	OBESITY, SUSCEPTIBILITY TO	OMIM	5	pfam00001	4557267,NP_000016
154	4501969	Disease	p.Arg16Gly	109690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109690	ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO||METABOLIC SYNDROME, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
154	4501969	Disease	p.Gln27Glu	109690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109690	OBESITY, SUSCEPTIBILITY TO||ASTHMA, CHILDHOOD, SUSCEPTIBILITY TO||METABOLIC SYNDROME, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
154	4501969	Disease	p.Thr164Ile	109690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109690	BETA-2-ADRENORECEPTOR AGONIST, REDUCED RESPONSE TO	OMIM	127	pfam00001	NULL
154	4501969	Disease	p.Thr164Ile	109690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109690	BETA-2-ADRENORECEPTOR AGONIST, REDUCED RESPONSE TO	OMIM	119	pfam10320	NULL
153	4557265	Disease	p.Arg389Gly	109630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109630	CONGESTIVE HEART FAILURE AND BETA-BLOCKER RESPONSE, MODIFIER OF	OMIM	282	pfam10320	NULL
153	4557265	Disease	p.Ser49Gly	109630.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109630	RESTING HEART RATE, VARIATION IN	OMIM	No Domain	N/A	NULL
958	23312371	Disease	p.Cys83Arg	109535.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109535	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3	OMIM	70	cd00185	NULL
958	23312371	Disease	p.Cys83Arg	109535.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109535	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3	OMIM	28	smart00208	NULL
958	116000	Disease	p.Cys83Arg	109535.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109535	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3	OMIM	70	cd00185	4507581,NP_001241
958	116000	Disease	p.Cys83Arg	109535.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109535	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3	OMIM	28	smart00208	4507581,NP_001241
682	51704273	Disease	p.Glu92Lys	109480.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109480	BLOOD GROUP--OK	OMIM	103	smart00408	38372919,NP_001719
682	51704273	Disease	p.Glu92Lys	109480.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109480	BLOOD GROUP--OK	OMIM	93	cd00096	38372919,NP_001719
682	51704273	Disease	p.Glu92Lys	109480.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109480	BLOOD GROUP--OK	OMIM	55	cd04968	38372919,NP_001719
682	51704273	Disease	p.Glu92Lys	109480.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109480	BLOOD GROUP--OK	OMIM	73	pfam00047	38372919,NP_001719
682	51704273	Disease	p.Glu92Lys	109480.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109480	BLOOD GROUP--OK	OMIM	79	pfam07679	38372919,NP_001719
682	51704273	Disease	p.Glu92Lys	109480.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109480	BLOOD GROUP--OK	OMIM	174	smart00409	38372919,NP_001719
682	51704273	Disease	p.Glu92Lys	109480.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109480	BLOOD GROUP--OK	OMIM	174	smart00410	38372919,NP_001719
682	38372925	Disease	p.Glu92Lys	109480.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109480	BLOOD GROUP--OK	OMIM	No Domain	N/A	NULL
682	38372923	Disease	p.Glu92Lys	109480.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109480	BLOOD GROUP--OK	OMIM	52	cd05758	NULL
682	38372923	Disease	p.Glu92Lys	109480.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109480	BLOOD GROUP--OK	OMIM	83	pfam07686	NULL
682	38372923	Disease	p.Glu92Lys	109480.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109480	BLOOD GROUP--OK	OMIM	61	pfam07679	NULL
682	38372923	Disease	p.Glu92Lys	109480.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109480	BLOOD GROUP--OK	OMIM	81	cd00096	NULL
682	38372923	Disease	p.Glu92Lys	109480.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109480	BLOOD GROUP--OK	OMIM	101	smart00409	NULL
682	38372923	Disease	p.Glu92Lys	109480.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109480	BLOOD GROUP--OK	OMIM	101	smart00410	NULL
6521	114787	Disease	p.Lys56Glu	109270.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	BAND 3 MEMPHIS	OMIM	No Domain	N/A	4507021,NP_000333
6521	114787	Disease	p.Pro327Arg	109270.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 TUSCALOOSA	OMIM	435	pfam07565	4507021,NP_000333
6521	114787	Disease	p.Glu40Lys	109270.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 MONTEFIORE	OMIM	No Domain	N/A	4507021,NP_000333
6521	114787	Disease	p.Glu658Lys	109270.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	WRIGHT BLOOD GROUP ANTIGEN	OMIM	351	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Gly771Asp	109270.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 CHUR	OMIM	464	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Val557Met	109270.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	WALDNER BLOOD GROUP ANTIGEN	OMIM	250	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Arg589His	109270.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT	OMIM	282	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Arg589Cys	109270.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT	OMIM	282	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Ser613Phe	109270.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT	OMIM	306	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Arg589Ser	109270.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT	OMIM	282	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Gly701Asp	109270.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA	OMIM	394	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Pro854Leu	109270.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	DIEGO BLOOD GROUP ANTIGEN	OMIM	No Domain	N/A	4507021,NP_000333
6521	114787	Disease	p.Gly130Arg	109270.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 FUKUOKA	OMIM	45	pfam07565	4507021,NP_000333
6521	114787	Disease	p.Thr837Ala	109270.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 TOKYO	OMIM	546	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Ala858Asp	109270.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	RENAL TUBULAR ACIDOSIS, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	4507021,NP_000333
6521	114787	Disease	p.Val488Met	109270.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 COIMBRA||RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA	OMIM	118	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Glu90Lys	109270.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 CAPE TOWN	OMIM	5	pfam07565	4507021,NP_000333
6521	114787	Disease	p.Arg870Trp	109270.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 PRAGUE III	OMIM	No Domain	N/A	4507021,NP_000333
6521	114787	Disease	p.Ser773Pro	109270.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	RENAL TUBULAR ACIDOSIS, DISTAL, WITH NORMAL RED CELL MORPHOLOGY	OMIM	466	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Arg602Pro	109270.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA	OMIM	295	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Arg760Gln	109270.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 PRAGUE II	OMIM	453	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Glu480Lys	109270.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	FROESE BLOOD GROUP ANTIGEN	OMIM	110	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Arg646Gln	109270.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	SWANN BLOOD GROUP ANTIGEN	OMIM	339	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Arg646Trp	109270.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	SWANN BLOOD GROUP ANTIGEN	OMIM	339	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Pro878Leu	109270.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109270	ACANTHOCYTOSIS DUE TO BAND 3 HT	OMIM	No Domain	N/A	4507021,NP_000333
10641	47117604	Disease	p.Pro32Thr	108961.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108961	ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE	OMIM	31	pfam06218	50592992,NP_006536
10641	47117604	Disease	p.Trp115Gly	108961.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108961	ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE	OMIM	131	pfam06218	50592992,NP_006536
10641	47117604	Disease	p.Asp176Glu	108961.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108961	ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE	OMIM	319	pfam06218	50592992,NP_006536
488	209413709	Disease	p.Gly23Glu	108740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	38	pfam00690	NULL
488	209413709	Disease	p.Gly23Glu	108740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	66	COG2217	NULL
488	209413709	Disease	p.Gly23Glu	108740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	104	COG0474	NULL
488	209413709	Disease	p.Gly23Glu	108740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	41	smart00831	NULL
488	114312	Disease	p.Gly23Glu	108740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	38	pfam00690	24638454,NP_733765
488	114312	Disease	p.Gly23Glu	108740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	104	COG0474	24638454,NP_733765
488	114312	Disease	p.Gly23Glu	108740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	66	COG2217	24638454,NP_733765
488	114312	Disease	p.Gly23Glu	108740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	41	smart00831	24638454,NP_733765
488	4502285	Disease	p.Gly23Glu	108740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	38	pfam00690	NULL
488	4502285	Disease	p.Gly23Glu	108740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	104	COG0474	NULL
488	4502285	Disease	p.Gly23Glu	108740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	66	COG2217	NULL
488	4502285	Disease	p.Gly23Glu	108740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	41	smart00831	NULL
488	209413709	Disease	p.Asn767Ser	108740.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	736	COG2216	NULL
488	209413709	Disease	p.Asn767Ser	108740.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	1090	COG2217	NULL
488	209413709	Disease	p.Asn767Ser	108740.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	1617	COG0474	NULL
488	209413709	Disease	p.Asn767Ser	108740.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	12	pfam00689	NULL
488	114312	Disease	p.Asn767Ser	108740.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	698	COG2216	24638454,NP_733765
488	114312	Disease	p.Asn767Ser	108740.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	1577	COG0474	24638454,NP_733765
488	114312	Disease	p.Asn767Ser	108740.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	1063	COG2217	24638454,NP_733765
488	4502285	Disease	p.Asn767Ser	108740.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	698	COG2216	NULL
488	4502285	Disease	p.Asn767Ser	108740.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	1577	COG0474	NULL
488	4502285	Disease	p.Asn767Ser	108740.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	1063	COG2217	NULL
488	209413709	Disease	p.Cys268Phe	108740.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	276	COG2216	NULL
488	209413709	Disease	p.Cys268Phe	108740.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	613	COG2217	NULL
488	209413709	Disease	p.Cys268Phe	108740.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	564	COG0474	NULL
488	209413709	Disease	p.Cys268Phe	108740.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	526	pfam00122	NULL
488	114312	Disease	p.Cys268Phe	108740.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	245	COG2216	24638454,NP_733765
488	114312	Disease	p.Cys268Phe	108740.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	528	COG0474	24638454,NP_733765
488	114312	Disease	p.Cys268Phe	108740.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	572	COG2217	24638454,NP_733765
488	114312	Disease	p.Cys268Phe	108740.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	400	pfam00122	24638454,NP_733765
488	4502285	Disease	p.Cys268Phe	108740.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	245	COG2216	NULL
488	4502285	Disease	p.Cys268Phe	108740.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	528	COG0474	NULL
488	4502285	Disease	p.Cys268Phe	108740.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	572	COG2217	NULL
488	4502285	Disease	p.Cys268Phe	108740.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, ACRAL HEMORRHAGIC TYPE	OMIM	400	pfam00122	NULL
488	209413709	Disease	p.Cys560Arg	108740.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	511_G	COG2216	NULL
488	209413709	Disease	p.Cys560Arg	108740.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	275	pfam00702	NULL
488	209413709	Disease	p.Cys560Arg	108740.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	880	COG2217	NULL
488	209413709	Disease	p.Cys560Arg	108740.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	1198	COG0474	NULL
488	114312	Disease	p.Cys560Arg	108740.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	502	COG2216	24638454,NP_733765
488	114312	Disease	p.Cys560Arg	108740.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	1156	COG0474	24638454,NP_733765
488	114312	Disease	p.Cys560Arg	108740.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	866	COG2217	24638454,NP_733765
488	114312	Disease	p.Cys560Arg	108740.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	147	pfam00702	24638454,NP_733765
488	4502285	Disease	p.Cys560Arg	108740.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	502	COG2216	NULL
488	4502285	Disease	p.Cys560Arg	108740.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	1156	COG0474	NULL
488	4502285	Disease	p.Cys560Arg	108740.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	866	COG2217	NULL
488	4502285	Disease	p.Cys560Arg	108740.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	147	pfam00702	NULL
488	209413709	Disease	p.Gly769Arg	108740.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, SEGMENTAL	OMIM	738	COG2216	NULL
488	209413709	Disease	p.Gly769Arg	108740.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, SEGMENTAL	OMIM	1092	COG2217	NULL
488	209413709	Disease	p.Gly769Arg	108740.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, SEGMENTAL	OMIM	1619	COG0474	NULL
488	209413709	Disease	p.Gly769Arg	108740.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, SEGMENTAL	OMIM	14	pfam00689	NULL
488	114312	Disease	p.Gly769Arg	108740.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, SEGMENTAL	OMIM	700	COG2216	24638454,NP_733765
488	114312	Disease	p.Gly769Arg	108740.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, SEGMENTAL	OMIM	1579	COG0474	24638454,NP_733765
488	114312	Disease	p.Gly769Arg	108740.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, SEGMENTAL	OMIM	1063_G	COG2217	24638454,NP_733765
488	4502285	Disease	p.Gly769Arg	108740.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, SEGMENTAL	OMIM	700	COG2216	NULL
488	4502285	Disease	p.Gly769Arg	108740.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, SEGMENTAL	OMIM	1579	COG0474	NULL
488	4502285	Disease	p.Gly769Arg	108740.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE, SEGMENTAL	OMIM	1063_G	COG2217	NULL
488	209413709	Disease	p.Pro602Leu	108740.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	ACROKERATOSIS VERRUCIFORMIS	OMIM	553	COG2216	NULL
488	209413709	Disease	p.Pro602Leu	108740.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	ACROKERATOSIS VERRUCIFORMIS	OMIM	341	pfam00702	NULL
488	209413709	Disease	p.Pro602Leu	108740.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	ACROKERATOSIS VERRUCIFORMIS	OMIM	932	COG2217	NULL
488	209413709	Disease	p.Pro602Leu	108740.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	ACROKERATOSIS VERRUCIFORMIS	OMIM	1246	COG0474	NULL
488	114312	Disease	p.Pro602Leu	108740.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	ACROKERATOSIS VERRUCIFORMIS	OMIM	526	COG2216	24638454,NP_733765
488	114312	Disease	p.Pro602Leu	108740.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	ACROKERATOSIS VERRUCIFORMIS	OMIM	1219	COG0474	24638454,NP_733765
488	114312	Disease	p.Pro602Leu	108740.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	ACROKERATOSIS VERRUCIFORMIS	OMIM	903	COG2217	24638454,NP_733765
488	114312	Disease	p.Pro602Leu	108740.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	ACROKERATOSIS VERRUCIFORMIS	OMIM	290	pfam00702	24638454,NP_733765
488	4502285	Disease	p.Pro602Leu	108740.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	ACROKERATOSIS VERRUCIFORMIS	OMIM	526	COG2216	NULL
488	4502285	Disease	p.Pro602Leu	108740.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	ACROKERATOSIS VERRUCIFORMIS	OMIM	1219	COG0474	NULL
488	4502285	Disease	p.Pro602Leu	108740.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	ACROKERATOSIS VERRUCIFORMIS	OMIM	903	COG2217	NULL
488	4502285	Disease	p.Pro602Leu	108740.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	ACROKERATOSIS VERRUCIFORMIS	OMIM	290	pfam00702	NULL
488	209413709	Disease	p.Arg131Gln	108740.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	114	COG2216	NULL
488	209413709	Disease	p.Arg131Gln	108740.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	412	COG2217	NULL
488	209413709	Disease	p.Arg131Gln	108740.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	256	COG0474	NULL
488	209413709	Disease	p.Arg131Gln	108740.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	44	pfam00122	NULL
488	114312	Disease	p.Arg131Gln	108740.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	114	COG2216	24638454,NP_733765
488	114312	Disease	p.Arg131Gln	108740.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	256	COG0474	24638454,NP_733765
488	114312	Disease	p.Arg131Gln	108740.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	412	COG2217	24638454,NP_733765
488	114312	Disease	p.Arg131Gln	108740.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	44	pfam00122	24638454,NP_733765
488	4502285	Disease	p.Arg131Gln	108740.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	114	COG2216	NULL
488	4502285	Disease	p.Arg131Gln	108740.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	256	COG0474	NULL
488	4502285	Disease	p.Arg131Gln	108740.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	412	COG2217	NULL
488	4502285	Disease	p.Arg131Gln	108740.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108740	DARIER DISEASE	OMIM	44	pfam00122	NULL
493	48255957	Disease	p.Val586Met	108733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108733	DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF	OMIM	1035	COG0474	NULL
493	48255957	Disease	p.Val586Met	108733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108733	DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF	OMIM	449	COG2216	NULL
493	48255957	Disease	p.Val586Met	108733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108733	DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF	OMIM	819_G	COG2217	NULL
493	48255959	Disease	p.Val586Met	108733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108733	DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF	OMIM	1035	COG0474	NULL
493	48255959	Disease	p.Val586Met	108733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108733	DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF	OMIM	449	COG2216	NULL
493	48255959	Disease	p.Val586Met	108733.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108733	DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF	OMIM	819_G	COG2217	NULL
487	12643544	Disease	p.Pro789Leu	108730.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108730	BRODY MYOPATHY	OMIM	1611	COG0474	27886529,NP_775293
487	12643544	Disease	p.Pro789Leu	108730.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108730	BRODY MYOPATHY	OMIM	6	pfam00689	27886529,NP_775293
487	12643544	Disease	p.Pro789Leu	108730.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108730	BRODY MYOPATHY	OMIM	717	COG2216	27886529,NP_775293
487	10835220	Disease	p.Pro789Leu	108730.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108730	BRODY MYOPATHY	OMIM	1611	COG0474	NULL
487	10835220	Disease	p.Pro789Leu	108730.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108730	BRODY MYOPATHY	OMIM	6	pfam00689	NULL
487	10835220	Disease	p.Pro789Leu	108730.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108730	BRODY MYOPATHY	OMIM	717	COG2216	NULL
6530	128616	Disease	p.Val149Ile	108345.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108345	NAT1*17 ALLELE	OMIM	118	COG0733	289191351,NP_001165972|4557046,NP_001034
6530	128616	Disease	p.Val149Ile	108345.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108345	NAT1*17 ALLELE	OMIM	95	pfam00209	289191351,NP_001165972|4557046,NP_001034
6530	289191353	Disease	p.Val149Ile	108345.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108345	NAT1*17 ALLELE	OMIM	225	pfam00209	NULL
6530	289191353	Disease	p.Val149Ile	108345.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108345	NAT1*17 ALLELE	OMIM	198	COG0733	NULL
6530	289191377	Disease	p.Val149Ile	108345.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108345	NAT1*17 ALLELE	OMIM	118	COG0733	NULL
6530	289191377	Disease	p.Val149Ile	108345.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108345	NAT1*17 ALLELE	OMIM	95	pfam00209	NULL
6530	128616	Disease	p.Val149Ile	108345.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108345	NAT1*17 ALLELE	OMIM	118	COG0733	289191351,NP_001165972|4557046,NP_001034
6530	128616	Disease	p.Val149Ile	108345.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=108345	NAT1*17 ALLELE	OMIM	95	pfam00209	289191351,NP_001165972|4557046,NP_001034
1644	4503281	Disease	p.Gly102Ser	107930.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	71	pfam00282	NULL
1644	4503281	Disease	p.Gly102Ser	107930.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	29	cd06450	NULL
1644	4503281	Disease	p.Gly102Ser	107930.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	91	COG0076	NULL
1644	132814448	Disease	p.Gly102Ser	107930.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	71	pfam00282	NULL
1644	132814448	Disease	p.Gly102Ser	107930.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	29	cd06450	NULL
1644	132814448	Disease	p.Gly102Ser	107930.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	91	COG0076	NULL
1644	4503281	Disease	p.Ser250Phe	107930.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	227	pfam00282	NULL
1644	4503281	Disease	p.Ser250Phe	107930.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	177	cd01494	NULL
1644	4503281	Disease	p.Ser250Phe	107930.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	195	cd06450	NULL
1644	4503281	Disease	p.Ser250Phe	107930.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	265	COG0076	NULL
1644	132814448	Disease	p.Ser250Phe	107930.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	227	pfam00282	NULL
1644	132814448	Disease	p.Ser250Phe	107930.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	177	cd01494	NULL
1644	132814448	Disease	p.Ser250Phe	107930.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	195	cd06450	NULL
1644	132814448	Disease	p.Ser250Phe	107930.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	265	COG0076	NULL
1644	4503281	Disease	p.Phe309Leu	107930.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	295	pfam00282	NULL
1644	4503281	Disease	p.Phe309Leu	107930.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	258	cd01494	NULL
1644	4503281	Disease	p.Phe309Leu	107930.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	266	cd06450	NULL
1644	4503281	Disease	p.Phe309Leu	107930.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	354	COG0076	NULL
1644	132814448	Disease	p.Phe309Leu	107930.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	295	pfam00282	NULL
1644	132814448	Disease	p.Phe309Leu	107930.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	258	cd01494	NULL
1644	132814448	Disease	p.Phe309Leu	107930.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	266	cd06450	NULL
1644	132814448	Disease	p.Phe309Leu	107930.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	354	COG0076	NULL
1644	4503281	Disease	p.Ser147Arg	107930.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	117	pfam00282	NULL
1644	4503281	Disease	p.Ser147Arg	107930.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	35	cd01494	NULL
1644	4503281	Disease	p.Ser147Arg	107930.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	79	cd06450	NULL
1644	4503281	Disease	p.Ser147Arg	107930.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	150	COG0076	NULL
1644	132814448	Disease	p.Ser147Arg	107930.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	117	pfam00282	NULL
1644	132814448	Disease	p.Ser147Arg	107930.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	35	cd01494	NULL
1644	132814448	Disease	p.Ser147Arg	107930.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	79	cd06450	NULL
1644	132814448	Disease	p.Ser147Arg	107930.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	150	COG0076	NULL
1644	4503281	Disease	p.Ala91Val	107930.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	60	pfam00282	NULL
1644	4503281	Disease	p.Ala91Val	107930.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	18	cd06450	NULL
1644	4503281	Disease	p.Ala91Val	107930.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	80	COG0076	NULL
1644	132814448	Disease	p.Ala91Val	107930.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	60	pfam00282	NULL
1644	132814448	Disease	p.Ala91Val	107930.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	18	cd06450	NULL
1644	132814448	Disease	p.Ala91Val	107930.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	80	COG0076	NULL
1644	4503281	Disease	p.Ala275Thr	107930.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	258	pfam00282	NULL
1644	4503281	Disease	p.Ala275Thr	107930.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	206	cd01494	NULL
1644	4503281	Disease	p.Ala275Thr	107930.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	226	cd06450	NULL
1644	4503281	Disease	p.Ala275Thr	107930.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	300	COG0076	NULL
1644	132814448	Disease	p.Ala275Thr	107930.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	258	pfam00282	NULL
1644	132814448	Disease	p.Ala275Thr	107930.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	206	cd01494	NULL
1644	132814448	Disease	p.Ala275Thr	107930.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	226	cd06450	NULL
1644	132814448	Disease	p.Ala275Thr	107930.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107930	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	OMIM	300	COG0076	NULL
1588	117293	Disease	p.Arg435Cys	107910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910	AROMATASE DEFICIENCY	OMIM	510	COG2124	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Arg435Cys	107910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910	AROMATASE DEFICIENCY	OMIM	503	pfam00067	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Arg435Cys	107910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910	AROMATASE DEFICIENCY	OMIM	510	COG2124	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Arg435Cys	107910.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910	AROMATASE DEFICIENCY	OMIM	503	pfam00067	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Cys437Tyr	107910.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910	AROMATASE DEFICIENCY	OMIM	512	COG2124	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Cys437Tyr	107910.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910	AROMATASE DEFICIENCY	OMIM	505	pfam00067	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Cys437Tyr	107910.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910	AROMATASE DEFICIENCY	OMIM	512	COG2124	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Cys437Tyr	107910.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910	AROMATASE DEFICIENCY	OMIM	505	pfam00067	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Arg375Cys	107910.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910	AROMATASE DEFICIENCY	OMIM	416	COG2124	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Arg375Cys	107910.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910	AROMATASE DEFICIENCY	OMIM	415	pfam00067	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Arg375Cys	107910.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910	AROMATASE DEFICIENCY	OMIM	416	COG2124	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Arg375Cys	107910.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910	AROMATASE DEFICIENCY	OMIM	415	pfam00067	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Arg365Gln	107910.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910	AROMATASE DEFICIENCY	OMIM	403	COG2124	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Arg365Gln	107910.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910	AROMATASE DEFICIENCY	OMIM	403	pfam00067	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Arg365Gln	107910.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910	AROMATASE DEFICIENCY	OMIM	403	COG2124	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Arg365Gln	107910.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910	AROMATASE DEFICIENCY	OMIM	403	pfam00067	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Glu210Lys	107910.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910	AROMATASE DEFICIENCY	OMIM	211	COG2124	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Glu210Lys	107910.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910	AROMATASE DEFICIENCY	OMIM	184	pfam00067	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Glu210Lys	107910.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910	AROMATASE DEFICIENCY	OMIM	211	COG2124	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Glu210Lys	107910.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107910	AROMATASE DEFICIENCY	OMIM	184	pfam00067	13904858,NP_000094|13904860,NP_112503
359	728874	Disease	p.Arg187Cys	107777.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	324	COG0580	4502179,NP_000477
359	728874	Disease	p.Arg187Cys	107777.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	298	cd00333	4502179,NP_000477
359	728874	Disease	p.Arg187Cys	107777.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	250	pfam00230	4502179,NP_000477
359	728874	Disease	p.Ser216Pro	107777.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	367	COG0580	4502179,NP_000477
359	728874	Disease	p.Ser216Pro	107777.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	341	cd00333	4502179,NP_000477
359	728874	Disease	p.Ser216Pro	107777.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	292	pfam00230	4502179,NP_000477
79742	193804856	Disease	p.Ser216Pro	107777.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Ser216Pro	107777.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
359	728874	Disease	p.Gly64Arg	107777.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	102	COG0580	4502179,NP_000477
359	728874	Disease	p.Gly64Arg	107777.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	99	cd00333	4502179,NP_000477
359	728874	Disease	p.Gly64Arg	107777.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	105	pfam00230	4502179,NP_000477
359	728874	Disease	p.Ala147Thr	107777.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	242	COG0580	4502179,NP_000477
359	728874	Disease	p.Ala147Thr	107777.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	222	cd00333	4502179,NP_000477
359	728874	Disease	p.Ala147Thr	107777.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	206	pfam00230	4502179,NP_000477
359	728874	Disease	p.Thr126Met	107777.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	221	COG0580	4502179,NP_000477
359	728874	Disease	p.Thr126Met	107777.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	201	cd00333	4502179,NP_000477
359	728874	Disease	p.Thr126Met	107777.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	185	pfam00230	4502179,NP_000477
359	728874	Disease	p.Asn68Ser	107777.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	108	COG0580	4502179,NP_000477
359	728874	Disease	p.Asn68Ser	107777.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	103	cd00333	4502179,NP_000477
359	728874	Disease	p.Asn68Ser	107777.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	109	pfam00230	4502179,NP_000477
359	728874	Disease	p.Glu258Lys	107777.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT	OMIM	No Domain	N/A	4502179,NP_000477
359	728874	Disease	p.Thr125Met	107777.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	207	COG0580	4502179,NP_000477
359	728874	Disease	p.Thr125Met	107777.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	200	cd00333	4502179,NP_000477
359	728874	Disease	p.Thr125Met	107777.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	184	pfam00230	4502179,NP_000477
359	728874	Disease	p.Gly175Arg	107777.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	312	COG0580	4502179,NP_000477
359	728874	Disease	p.Gly175Arg	107777.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	285	cd00333	4502179,NP_000477
359	728874	Disease	p.Gly175Arg	107777.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	238	pfam00230	4502179,NP_000477
359	728874	Disease	p.Leu22Val	107777.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	21	COG0580	4502179,NP_000477
359	728874	Disease	p.Leu22Val	107777.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	12	cd00333	4502179,NP_000477
359	728874	Disease	p.Leu22Val	107777.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	22	pfam00230	4502179,NP_000477
359	728874	Disease	p.Cys181Trp	107777.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	318	COG0580	4502179,NP_000477
359	728874	Disease	p.Cys181Trp	107777.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	292	cd00333	4502179,NP_000477
359	728874	Disease	p.Cys181Trp	107777.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	244	pfam00230	4502179,NP_000477
359	728874	Disease	p.Gln57Pro	107777.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	95	COG0580	4502179,NP_000477
359	728874	Disease	p.Gln57Pro	107777.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	86	cd00333	4502179,NP_000477
359	728874	Disease	p.Gln57Pro	107777.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	96	pfam00230	4502179,NP_000477
359	728874	Disease	p.Gly100Val	107777.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	155	COG0580	4502179,NP_000477
359	728874	Disease	p.Gly100Val	107777.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	135	cd00333	4502179,NP_000477
359	728874	Disease	p.Gly100Val	107777.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	141	pfam00230	4502179,NP_000477
359	728874	Disease	p.Pro262Leu	107777.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	4502179,NP_000477
359	728874	Disease	p.Ala190Thr	107777.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	327	COG0580	4502179,NP_000477
359	728874	Disease	p.Ala190Thr	107777.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	301	cd00333	4502179,NP_000477
359	728874	Disease	p.Ala190Thr	107777.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107777	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE	OMIM	253	pfam00230	4502179,NP_000477
358	297307116	Disease	p.Ala45Val	107776.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	COLTON BLOOD GROUP POLYMORPHISM	OMIM	215	COG0580	NULL
358	297307116	Disease	p.Ala45Val	107776.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	COLTON BLOOD GROUP POLYMORPHISM	OMIM	179	pfam00230	NULL
358	297307116	Disease	p.Ala45Val	107776.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	COLTON BLOOD GROUP POLYMORPHISM	OMIM	195	cd00333	NULL
358	297307120	Disease	p.Ala45Val	107776.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	COLTON BLOOD GROUP POLYMORPHISM	OMIM	211	pfam00230	NULL
358	297307120	Disease	p.Ala45Val	107776.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	COLTON BLOOD GROUP POLYMORPHISM	OMIM	283	COG0580	NULL
358	297307120	Disease	p.Ala45Val	107776.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	COLTON BLOOD GROUP POLYMORPHISM	OMIM	227	cd00333	NULL
358	267412	Disease	p.Ala45Val	107776.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	COLTON BLOOD GROUP POLYMORPHISM	OMIM	76	pfam00230	37694062,NP_932766
358	267412	Disease	p.Ala45Val	107776.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	COLTON BLOOD GROUP POLYMORPHISM	OMIM	55	COG0580	37694062,NP_932766
358	267412	Disease	p.Ala45Val	107776.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	COLTON BLOOD GROUP POLYMORPHISM	OMIM	66	cd00333	37694062,NP_932766
358	297307118	Disease	p.Ala45Val	107776.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	COLTON BLOOD GROUP POLYMORPHISM	OMIM	81	pfam00230	NULL
358	297307118	Disease	p.Ala45Val	107776.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	COLTON BLOOD GROUP POLYMORPHISM	OMIM	122	cd00333	NULL
358	297307118	Disease	p.Ala45Val	107776.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	COLTON BLOOD GROUP POLYMORPHISM	OMIM	142	COG0580	NULL
358	297307116	Disease	p.Pro38Leu	107776.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	AQUAPORIN 1 DEFICIENCY||COLTON-NULL	OMIM	199	COG0580	NULL
358	297307116	Disease	p.Pro38Leu	107776.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	AQUAPORIN 1 DEFICIENCY||COLTON-NULL	OMIM	172	pfam00230	NULL
358	297307116	Disease	p.Pro38Leu	107776.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	AQUAPORIN 1 DEFICIENCY||COLTON-NULL	OMIM	153	cd00333	NULL
358	297307120	Disease	p.Pro38Leu	107776.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	AQUAPORIN 1 DEFICIENCY||COLTON-NULL	OMIM	204	pfam00230	NULL
358	297307120	Disease	p.Pro38Leu	107776.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	AQUAPORIN 1 DEFICIENCY||COLTON-NULL	OMIM	240	COG0580	NULL
358	297307120	Disease	p.Pro38Leu	107776.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	AQUAPORIN 1 DEFICIENCY||COLTON-NULL	OMIM	220	cd00333	NULL
358	267412	Disease	p.Pro38Leu	107776.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	AQUAPORIN 1 DEFICIENCY||COLTON-NULL	OMIM	39	pfam00230	37694062,NP_932766
358	267412	Disease	p.Pro38Leu	107776.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	AQUAPORIN 1 DEFICIENCY||COLTON-NULL	OMIM	38	COG0580	37694062,NP_932766
358	267412	Disease	p.Pro38Leu	107776.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	AQUAPORIN 1 DEFICIENCY||COLTON-NULL	OMIM	27	cd00333	37694062,NP_932766
358	297307118	Disease	p.Pro38Leu	107776.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	AQUAPORIN 1 DEFICIENCY||COLTON-NULL	OMIM	67	pfam00230	NULL
358	297307118	Disease	p.Pro38Leu	107776.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	AQUAPORIN 1 DEFICIENCY||COLTON-NULL	OMIM	115	cd00333	NULL
358	297307118	Disease	p.Pro38Leu	107776.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107776	AQUAPORIN 1 DEFICIENCY||COLTON-NULL	OMIM	120	COG0580	NULL
348	114039	Disease	p.Arg158Cys	107741.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	APOE2 ISOFORMS||HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL RECESSIVE	OMIM	88	pfam01442	4557325,NP_000032
348	114039	Disease	p.Glu3Lys	107741.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	HYPERLIPOPROTEINEMIA AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5	OMIM	No Domain	N/A	4557325,NP_000032
348	114039	Disease	p.Arg136Ser	107741.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE2-CHRISTCHURCH	OMIM	66	pfam01442	4557325,NP_000032
348	114039	Disease	p.Arg145Cys	107741.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2||FAMILIAL DYSBETALIPOPROTEINEMIA	OMIM	75	pfam01442	4557325,NP_000032
348	114039	Disease	p.Glu244Lys	107741.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE7||APOE-SUITA	OMIM	204	pfam01442	4557325,NP_000032
348	114039	Disease	p.Cys112Arg	107741.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT||FAMILIAL DYSBETALIPOPROTEINEMIA	OMIM	36	pfam01442	4557325,NP_000032
348	114039	Disease	p.Gly127Asp	107741.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	APOLIPOPROTEINEMIA E1	OMIM	57	pfam01442	4557325,NP_000032
348	114039	Disease	p.Lys146Glu	107741.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE1-HARRISBURG	OMIM	76	pfam01442	4557325,NP_000032
348	114039	Disease	p.Lys146Gln	107741.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	DYSBETALIPOPROTEINEMIA DUE TO APOE2	OMIM	76	pfam01442	4557325,NP_000032
348	114039	Disease	p.Arg228Cys	107741.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	APOE2-DUNEDIN	OMIM	188	pfam01442	4557325,NP_000032
348	114039	Disease	p.Glu13Lys	107741.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE4-PHILADELPHIA	OMIM	No Domain	N/A	4557325,NP_000032
348	114039	Disease	p.Cys112Arg	107741.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	ALZHEIMER DISEASE 2	OMIM	36	pfam01442	4557325,NP_000032
348	114039	Disease	p.Arg145His	107741.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	HYPERLIPOPROTEINEMIA, TYPE III||APOE3(-)-KOCHI	OMIM	75	pfam01442	4557325,NP_000032
348	114039	Disease	p.Arg158Cys	107741.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2-FUKUOKA||APOE2-FUKUOKA	OMIM	88	pfam01442	4557325,NP_000032
348	114039	Disease	p.Glu3Lys	107741.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	HYPERCHOLESTEROLEMIA AND HYPERTRIGLYCERIDEMIA, TYPE III	OMIM	No Domain	N/A	4557325,NP_000032
348	114039	Disease	p.Arg158Cys	107741.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2	OMIM	88	pfam01442	4557325,NP_000032
348	114039	Disease	p.Cys112Arg	107741.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE4	OMIM	36	pfam01442	4557325,NP_000032
348	114039	Disease	p.Leu28Pro	107741.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	APOE4(-)-FREIBURG	OMIM	No Domain	N/A	4557325,NP_000032
348	114039	Disease	p.Thr42Ala	107741.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	APOE3(-)-FREIBURG	OMIM	No Domain	N/A	4557325,NP_000032
348	114039	Disease	p.Pro84Arg	107741.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	APOE4 VARIANT	OMIM	5	pfam01442	4557325,NP_000032
348	114039	Disease	p.Ala99Thr	107741.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	APOE3 VARIANT	OMIM	20	pfam01442	4557325,NP_000032
348	114039	Disease	p.Arg134Gln	107741.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	APOE2 VARIANT	OMIM	64	pfam01442	4557325,NP_000032
348	114039	Disease	p.Arg274His	107741.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	APOE4 VARIANT	OMIM	237	pfam01442	4557325,NP_000032
348	114039	Disease	p.Ser296Arg	107741.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	APOE4(+)	OMIM	325	pfam01442	4557325,NP_000032
348	114039	Disease	p.Arg145Pro	107741.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	LIPOPROTEIN GLOMERULOPATHY||APOE SENDAI	OMIM	75	pfam01442	4557325,NP_000032
348	114039	Disease	p.Arg25Cys	107741.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107741	LIPOPROTEIN GLOMERULOPATHY||APOE KYOTO	OMIM	No Domain	N/A	4557325,NP_000032
338	105990532	Disease	p.Asn1728Thr	107730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107730	HYPOBETALIPOPROTEINEMIA, FAMILIAL	OMIM	No Domain	N/A	NULL
338	105990532	Disease	p.Val1829Cys	107730.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107730	HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB40||APOB40	OMIM	No Domain	N/A	NULL
338	105990532	Disease	p.Glu4034Arg	107730.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107730	HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB90 OR APOB89||APOB90/APOB89	OMIM	No Domain	N/A	NULL
338	105990532	Disease	p.Arg3500Gln	107730.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107730	HYPERCHOLESTEROLEMIA DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B100	OMIM	No Domain	N/A	NULL
338	105990532	Disease	p.Arg3531Cys	107730.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107730	HYPERCHOLESTEROLEMIA DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B	OMIM	No Domain	N/A	NULL
345	114026	Disease	p.Thr74Ala	107720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107720	APOLIPOPROTEIN C-III, NONGLYCOSYLATED	OMIM	74	pfam05778	4557323,NP_000031
345	114026	Disease	p.Lys58Glu	107720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107720	APOLIPOPROTEIN C-III DEFICIENCY	OMIM	58	pfam05778	4557323,NP_000031
337	71773110	Disease	p.Gln360His	107690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107690	APOLIPOPROTEIN A-IV POLYMORPHISM, APOA4*1/APOA4*2	OMIM	No Domain	N/A	NULL
337	71773110	Disease	p.Glu230Lys	107690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107690	APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*3	OMIM	231	pfam01442	NULL
335	113992	Disease	p.Arg173Cys	107680.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680	APOLIPOPROTEIN A-I (MILANO)	OMIM	139	pfam01442	4557321,NP_000030
335	113992	Disease	p.Glu198Lys	107680.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680	APOLIPOPROTEIN A-I (MUNSTER4)	OMIM	170	pfam01442	4557321,NP_000030
335	113992	Disease	p.Glu136Lys	107680.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680	APOLIPOPROTEIN A-I (NORWAY)	OMIM	78	pfam01442	4557321,NP_000030
79742	193804856	Disease	p.Glu136Lys	107680.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680	MOVED TO 107680.0002	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Glu136Lys	107680.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680	MOVED TO 107680.0002	OMIM	No Domain	N/A	193804854,NP_789789
335	113992	Disease	p.Pro143Arg	107680.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680	APOLIPOPROTEIN A-I (GIESSEN)	OMIM	85	pfam01442	4557321,NP_000030
335	113992	Disease	p.Pro3Arg	107680.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680	APOLIPOPROTEIN A-I (MUNSTER3C)	OMIM	No Domain	N/A	4557321,NP_000030
335	113992	Disease	p.Pro4Arg	107680.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680	APOLIPOPROTEIN A-I DEFICIENCY	OMIM	No Domain	N/A	4557321,NP_000030
335	113992	Disease	p.Pro165Arg	107680.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680	APOLIPOPROTEIN A-I	OMIM	113	pfam01442	4557321,NP_000030
335	113992	Disease	p.Gly26Arg	107680.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680	AMYLOID POLYNEUROPATHY-NEPHROPATHY, IOWA TYPE||AMYLOIDOSIS, VAN ALLEN TYPE, AMYLOIDOSIS IV, FORMERLY	OMIM	No Domain	N/A	4557321,NP_000030
335	113992	Disease	p.Arg10Leu	107680.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680	APOLIPOPROTEIN A-I (BALTIMORE)	OMIM	No Domain	N/A	4557321,NP_000030
335	113992	Disease	p.Leu60Arg	107680.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680	AMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC	OMIM	No Domain	N/A	4557321,NP_000030
335	113992	Disease	p.Trp50Arg	107680.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680	AMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC	OMIM	No Domain	N/A	4557321,NP_000030
335	113992	Disease	p.Val156Glu	107680.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680	APOLIPOPROTEIN A-I DEFICIENCY	OMIM	104	pfam01442	4557321,NP_000030
335	113992	Disease	p.Leu90Pro	107680.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680	AMYLOIDOSIS, CARDIAC AND CUTANEOUS	OMIM	23	pfam01442	4557321,NP_000030
335	113992	Disease	p.Arg173Pro	107680.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680	AMYLOIDOSIS, CARDIAC AND CUTANEOUS	OMIM	139	pfam01442	4557321,NP_000030
335	113992	Disease	p.Leu174Ser	107680.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680	AMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC	OMIM	140	pfam01442	4557321,NP_000030
335	113992	Disease	p.Ala175Pro	107680.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680	AMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC	OMIM	141	pfam01442	4557321,NP_000030
7020	109389358	Disease	p.Arg255Gly	107580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107580	BRANCHIOOCULOFACIAL SYNDROME	OMIM	51	pfam03299	NULL
7020	135302	Disease	p.Arg255Gly	107580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107580	BRANCHIOOCULOFACIAL SYNDROME	OMIM	47	pfam03299	4507441,NP_003211
7020	73760407	Disease	p.Arg255Gly	107580.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107580	BRANCHIOOCULOFACIAL SYNDROME	OMIM	53	pfam03299	NULL
7020	109389358	Disease	p.Gly262Glu	107580.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107580	BRANCHIOOCULOFACIAL SYNDROME	OMIM	58	pfam03299	NULL
7020	135302	Disease	p.Gly262Glu	107580.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107580	BRANCHIOOCULOFACIAL SYNDROME	OMIM	54	pfam03299	4507441,NP_003211
7020	73760407	Disease	p.Gly262Glu	107580.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107580	BRANCHIOOCULOFACIAL SYNDROME	OMIM	60	pfam03299	NULL
7020	109389358	Disease	p.Phe319Ser	107580.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107580	BRANCHIOOCULOFACIAL SYNDROME	OMIM	115	pfam03299	NULL
7020	135302	Disease	p.Phe319Ser	107580.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107580	BRANCHIOOCULOFACIAL SYNDROME	OMIM	111	pfam03299	4507441,NP_003211
7020	73760407	Disease	p.Phe319Ser	107580.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107580	BRANCHIOOCULOFACIAL SYNDROME	OMIM	117	pfam03299	NULL
3459	124474	Disease	p.Ile87Thr	107470.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107470	BCG INFECTION, TUBERCULOID, ANTIBIOTIC-RESPONSIVE||MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY	OMIM	94	pfam01108	4557880,NP_000407
3459	124474	Disease	p.Cys77Tyr	107470.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107470	ATYPICAL MYCOBACTERIAL INFECTION, DISSEMINATED FAMILIAL	OMIM	83	pfam01108	4557880,NP_000407
3459	124474	Disease	p.Val61Gln	107470.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107470	ATYPICAL MYCOBACTERIAL INFECTION, DISSEMINATED	OMIM	50	pfam01108	4557880,NP_000407
2950	121746	Disease	p.Arg101His	107400.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M2	OMIM	18	cd03208	4504183,NP_000843
2950	121746	Disease	p.Arg101His	107400.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M2	OMIM	18	cd03210	4504183,NP_000843
2950	121746	Disease	p.Arg101His	107400.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M2	OMIM	150	COG0625	4504183,NP_000843
2950	121746	Disease	p.Arg101His	107400.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M2	OMIM	17	cd03209	4504183,NP_000843
2950	121746	Disease	p.Arg101His	107400.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M2	OMIM	17	cd03192	4504183,NP_000843
2950	121746	Disease	p.Arg101His	107400.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M2	OMIM	5	pfam00043	4504183,NP_000843
2950	121746	Disease	p.Arg101His	107400.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M2	OMIM	25	cd03183	4504183,NP_000843
2950	121746	Disease	p.Arg101His	107400.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M2	OMIM	16	cd00299	4504183,NP_000843
2950	121746	Disease	p.Arg101His	107400.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M2	OMIM	2	cd03178	4504183,NP_000843
2950	121746	Disease	p.Glu376Asp	107400.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M3	OMIM	No Domain	N/A	4504183,NP_000843
2950	121746	Disease	p.Arg101His	107400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M4	OMIM	18	cd03208	4504183,NP_000843
2950	121746	Disease	p.Arg101His	107400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M4	OMIM	18	cd03210	4504183,NP_000843
2950	121746	Disease	p.Arg101His	107400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M4	OMIM	150	COG0625	4504183,NP_000843
2950	121746	Disease	p.Arg101His	107400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M4	OMIM	17	cd03209	4504183,NP_000843
2950	121746	Disease	p.Arg101His	107400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M4	OMIM	17	cd03192	4504183,NP_000843
2950	121746	Disease	p.Arg101His	107400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M4	OMIM	5	pfam00043	4504183,NP_000843
2950	121746	Disease	p.Arg101His	107400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M4	OMIM	25	cd03183	4504183,NP_000843
2950	121746	Disease	p.Arg101His	107400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M4	OMIM	16	cd00299	4504183,NP_000843
2950	121746	Disease	p.Arg101His	107400.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M4	OMIM	2	cd03178	4504183,NP_000843
2950	121746	Disease	p.Arg223Cys	107400.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI F	OMIM	No Domain	N/A	4504183,NP_000843
2950	121746	Disease	p.Asp341Asn	107400.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI P(ST. ALBANS)	OMIM	No Domain	N/A	4504183,NP_000843
2950	121746	Disease	p.Glu204Lys	107400.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI X	OMIM	123	cd03210	4504183,NP_000843
2950	121746	Disease	p.Glu204Lys	107400.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI X	OMIM	120	cd03209	4504183,NP_000843
2950	121746	Disease	p.Glu363Lys	107400.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI CHRISTCHURCH	OMIM	No Domain	N/A	4504183,NP_000843
2950	121746	Disease	p.Glu342Lys	107400.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI Z	OMIM	No Domain	N/A	4504183,NP_000843
2950	121746	Disease	p.Glu264Val	107400.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI S	OMIM	No Domain	N/A	4504183,NP_000843
2950	121746	Disease	p.Pro369Leu	107400.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M(HEERLEN)	OMIM	No Domain	N/A	4504183,NP_000843
2950	121746	Disease	p.Gly67Glu	107400.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M(MINERAL SPRINGS)	OMIM	131	cd00570	4504183,NP_000843
2950	121746	Disease	p.Gly67Glu	107400.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M(MINERAL SPRINGS)	OMIM	92	COG0625	4504183,NP_000843
2950	121746	Disease	p.Gly67Glu	107400.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M(MINERAL SPRINGS)	OMIM	97	pfam02798	4504183,NP_000843
2950	121746	Disease	p.Gly67Glu	107400.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M(MINERAL SPRINGS)	OMIM	95	cd03039	4504183,NP_000843
2950	121746	Disease	p.Gly67Glu	107400.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M(MINERAL SPRINGS)	OMIM	70	cd03076	4504183,NP_000843
2950	121746	Disease	p.Leu41Pro	107400.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M(PROCIDA)	OMIM	60	cd00570	4504183,NP_000843
2950	121746	Disease	p.Leu41Pro	107400.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M(PROCIDA)	OMIM	59	COG0625	4504183,NP_000843
2950	121746	Disease	p.Leu41Pro	107400.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M(PROCIDA)	OMIM	55	pfam02798	4504183,NP_000843
2950	121746	Disease	p.Leu41Pro	107400.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M(PROCIDA)	OMIM	44	cd03039	4504183,NP_000843
2950	121746	Disease	p.Leu41Pro	107400.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI M(PROCIDA)	OMIM	41	cd03076	4504183,NP_000843
2950	121746	Disease	p.Arg39Cys	107400.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI I	OMIM	58	cd00570	4504183,NP_000843
2950	121746	Disease	p.Arg39Cys	107400.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI I	OMIM	52	COG0625	4504183,NP_000843
2950	121746	Disease	p.Arg39Cys	107400.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI I	OMIM	53	pfam02798	4504183,NP_000843
2950	121746	Disease	p.Arg39Cys	107400.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI I	OMIM	42	cd03039	4504183,NP_000843
2950	121746	Disease	p.Arg39Cys	107400.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI I	OMIM	39	cd03076	4504183,NP_000843
2950	121746	Disease	p.Asp256Val	107400.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI P(LOWELL)||PI NULL(CARDIFF), PI Q0(CARDIFF)	OMIM	No Domain	N/A	4504183,NP_000843
2950	121746	Disease	p.Leu353Phe	107400.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI NULL(MATTAWA)||PI Q0(MATTAWA)	OMIM	No Domain	N/A	4504183,NP_000843
2950	121746	Disease	p.Met358Arg	107400.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI PITTSBURGH	OMIM	No Domain	N/A	4504183,NP_000843
2950	121746	Disease	p.Asp2Ala	107400.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI V(MUNICH)	OMIM	No Domain	N/A	4504183,NP_000843
2950	121746	Disease	p.Glu342Lys	107400.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI Z(AUGSBURG)||PI Z(TUN)	OMIM	No Domain	N/A	4504183,NP_000843
2950	121746	Disease	p.Ala336Thr	107400.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI W(BETHESDA)	OMIM	No Domain	N/A	4504183,NP_000843
2950	121746	Disease	p.Gly115Ser	107400.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI NULL(DEVON)||PI Q0(DEVON), PI NULL(NEWPORT), PI Q0(NEWPORT)	OMIM	32	cd03208	4504183,NP_000843
2950	121746	Disease	p.Gly115Ser	107400.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI NULL(DEVON)||PI Q0(DEVON), PI NULL(NEWPORT), PI Q0(NEWPORT)	OMIM	32	cd03210	4504183,NP_000843
2950	121746	Disease	p.Gly115Ser	107400.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI NULL(DEVON)||PI Q0(DEVON), PI NULL(NEWPORT), PI Q0(NEWPORT)	OMIM	197	COG0625	4504183,NP_000843
2950	121746	Disease	p.Gly115Ser	107400.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI NULL(DEVON)||PI Q0(DEVON), PI NULL(NEWPORT), PI Q0(NEWPORT)	OMIM	32	cd03209	4504183,NP_000843
2950	121746	Disease	p.Gly115Ser	107400.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI NULL(DEVON)||PI Q0(DEVON), PI NULL(NEWPORT), PI Q0(NEWPORT)	OMIM	73	cd03192	4504183,NP_000843
2950	121746	Disease	p.Gly115Ser	107400.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI NULL(DEVON)||PI Q0(DEVON), PI NULL(NEWPORT), PI Q0(NEWPORT)	OMIM	51	pfam00043	4504183,NP_000843
2950	121746	Disease	p.Gly115Ser	107400.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI NULL(DEVON)||PI Q0(DEVON), PI NULL(NEWPORT), PI Q0(NEWPORT)	OMIM	45	cd03183	4504183,NP_000843
2950	121746	Disease	p.Gly115Ser	107400.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI NULL(DEVON)||PI Q0(DEVON), PI NULL(NEWPORT), PI Q0(NEWPORT)	OMIM	70	cd00299	4504183,NP_000843
2950	121746	Disease	p.Gly115Ser	107400.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI NULL(DEVON)||PI Q0(DEVON), PI NULL(NEWPORT), PI Q0(NEWPORT)	OMIM	32	cd03178	4504183,NP_000843
2950	121746	Disease	p.Ile92Asn	107400.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI NULL(LUDWIGSHAFEN)||PI Q0(LUDWIGSHAFEN)	OMIM	9	cd03208	4504183,NP_000843
2950	121746	Disease	p.Ile92Asn	107400.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI NULL(LUDWIGSHAFEN)||PI Q0(LUDWIGSHAFEN)	OMIM	9	cd03210	4504183,NP_000843
2950	121746	Disease	p.Ile92Asn	107400.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI NULL(LUDWIGSHAFEN)||PI Q0(LUDWIGSHAFEN)	OMIM	132	COG0625	4504183,NP_000843
2950	121746	Disease	p.Ile92Asn	107400.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI NULL(LUDWIGSHAFEN)||PI Q0(LUDWIGSHAFEN)	OMIM	8	cd03209	4504183,NP_000843
2950	121746	Disease	p.Ile92Asn	107400.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI NULL(LUDWIGSHAFEN)||PI Q0(LUDWIGSHAFEN)	OMIM	8	cd03192	4504183,NP_000843
2950	121746	Disease	p.Ile92Asn	107400.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI NULL(LUDWIGSHAFEN)||PI Q0(LUDWIGSHAFEN)	OMIM	7	cd03183	4504183,NP_000843
2950	121746	Disease	p.Ile92Asn	107400.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI NULL(LUDWIGSHAFEN)||PI Q0(LUDWIGSHAFEN)	OMIM	7	cd00299	4504183,NP_000843
2950	121746	Disease	p.Asp256Val	107400.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI P(DUARTE)	OMIM	No Domain	N/A	4504183,NP_000843
2950	121746	Disease	p.Ser53Phe	107400.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI S(IIYAMA)	OMIM	94	cd00570	4504183,NP_000843
2950	121746	Disease	p.Ser53Phe	107400.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI S(IIYAMA)	OMIM	71	COG0625	4504183,NP_000843
2950	121746	Disease	p.Ser53Phe	107400.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI S(IIYAMA)	OMIM	77	pfam02798	4504183,NP_000843
2950	121746	Disease	p.Ser53Phe	107400.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI S(IIYAMA)	OMIM	69	cd03039	4504183,NP_000843
2950	121746	Disease	p.Ser53Phe	107400.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI S(IIYAMA)	OMIM	55	cd03076	4504183,NP_000843
2950	121746	Disease	p.Thr85Met	107400.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI Z(BRISTOL)	OMIM	2	cd03208	4504183,NP_000843
2950	121746	Disease	p.Thr85Met	107400.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI Z(BRISTOL)	OMIM	2	cd03210	4504183,NP_000843
2950	121746	Disease	p.Thr85Met	107400.0040	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107400	PI Z(BRISTOL)	OMIM	125	COG0625	4504183,NP_000843
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	311	cd07112	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	327	cd07126	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	339	cd07086	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	333	cd07130	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	329	cd07113	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	325	cd07559	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	320	cd07117	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	325	cd07116	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	332	cd07141	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	426	COG1012	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	324	cd07097	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	456	cd07125	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	285	cd07132	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	312	cd07087	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	283	cd07133	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	337	cd07078	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	308	cd07148	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	308	cd07150	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	311	cd07146	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	317	cd07145	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	308	cd07149	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	313	cd07094	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	316	cd07147	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	351	cd07082	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	336	cd07144	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	447	COG4230	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	329	cd07102	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	303	cd07101	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	311	cd07099	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	328	cd07098	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	330	cd07085	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	287	cd07134	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	319	cd07151	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	354	cd06534	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	304	cd07108	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	317	cd07093	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	309	cd07109	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	311	cd07090	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	304	cd07107	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	303	cd07120	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	330	cd07089	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	307	cd07114	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	306	cd07115	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	313	cd07110	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	335	cd07111	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	329	cd07142	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	332	cd07138	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	322	cd07088	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	344	cd07128	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	325	cd07119	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	334	cd07139	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	325	cd07131	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	296	cd07105	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	292	cd07104	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	290	cd07095	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	289	cd07137	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	308	cd07129	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	315	cd07084	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	298	cd07100	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	319	cd07135	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	322	cd07103	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	320	cd07106	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	307	cd07092	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	306	cd07118	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	376	cd07123	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	299	cd07152	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	333	cd07140	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	333	cd07143	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	420	pfam00171	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	341	cd07091	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	381	cd07124	NULL
501	310128093	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	349	cd07083	NULL
501	310128099	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	No Domain	N/A	NULL
501	310128101	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	No Domain	N/A	NULL
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	377	cd07083	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	408	cd07124	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	406	cd07123	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	338	cd07112	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	372	cd07086	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	360	cd07130	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	356	cd07113	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	352	cd07559	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	347	cd07117	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	354	cd07126	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	349	cd07106	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	351	cd07103	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	333	cd07118	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	335	cd07092	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	339	cd07090	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	336	cd07109	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	357	cd07089	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	333	cd07108	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	335	cd07114	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	333	cd07120	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	333	cd07115	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	331	cd07107	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	340	cd07110	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	344	cd07093	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	357	cd07142	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	318	cd07095	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	319	cd07104	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	323	cd07105	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	393	cd06534	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	341	cd07129	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	346	cd07084	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	326	cd07100	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	314	cd07137	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	360	cd07143	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	360	cd07140	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	314	cd07134	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	349	cd07135	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	357	cd07085	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	326	cd07152	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	378	cd07082	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	346	cd07151	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	352	cd07116	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	464	COG1012	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	351	cd07097	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	359	cd07141	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	450	pfam00171	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	356	cd07098	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	357	cd07102	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	338	cd07099	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	330	cd07101	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	369	cd07091	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	358	cd07131	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	352	cd07119	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	371	cd07128	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	349	cd07088	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	361	cd07139	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	359	cd07138	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	368	cd07078	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	342	cd07087	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	318	cd07133	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	310	cd07132	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	363	cd07144	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	362	cd07111	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	338	cd07146	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	335	cd07150	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	340	cd07094	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	344	cd07145	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	335	cd07149	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	343	cd07147	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	335	cd07148	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	473	COG4230	188035924,NP_001173
501	294862544	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	484	cd07125	188035924,NP_001173
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	311	cd07112	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	333	cd07130	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	325	cd07559	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	320	cd07117	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	327	cd07126	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	339	cd07086	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	329	cd07113	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	332	cd07141	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	325	cd07116	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	426	COG1012	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	324	cd07097	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	456	cd07125	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	337	cd07078	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	285	cd07132	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	312	cd07087	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	283	cd07133	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	317	cd07145	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	308	cd07148	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	308	cd07150	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	313	cd07094	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	308	cd07149	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	316	cd07147	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	311	cd07146	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	351	cd07082	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	336	cd07144	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	447	COG4230	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	303	cd07101	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	329	cd07102	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	311	cd07099	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	328	cd07098	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	330	cd07085	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	287	cd07134	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	319	cd07151	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	354	cd06534	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	313	cd07110	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	311	cd07090	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	309	cd07109	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	304	cd07108	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	306	cd07115	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	307	cd07114	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	330	cd07089	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	317	cd07093	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	303	cd07120	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	304	cd07107	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	335	cd07111	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	329	cd07142	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	332	cd07138	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	325	cd07131	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	322	cd07088	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	344	cd07128	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	334	cd07139	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	325	cd07119	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	292	cd07104	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	296	cd07105	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	290	cd07095	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	289	cd07137	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	298	cd07100	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	315	cd07084	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	308	cd07129	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	319	cd07135	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	307	cd07092	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	322	cd07103	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	320	cd07106	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	306	cd07118	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	376	cd07123	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	299	cd07152	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	333	cd07140	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	333	cd07143	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	420	pfam00171	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	341	cd07091	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	381	cd07124	NULL
501	310128103	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	349	cd07083	NULL
501	310128095	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	No Domain	N/A	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	379	cd07112	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	388	cd07117	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	409	cd07130	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	393	cd07113	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	395	cd07559	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	423	cd07086	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	519	COG1012	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	395	cd07116	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	397	cd07141	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	393	cd07097	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	527	cd07125	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	425	cd07078	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	346	cd07132	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	398	cd07087	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	372	cd07146	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	383	cd07145	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	374	cd07149	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	381	cd07147	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	370	cd07148	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	369	cd07150	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	374	cd07094	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	420	cd07082	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	404	cd07144	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	377	cd07099	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	368	cd07101	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	406	cd07102	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	398	cd07098	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	409	cd07085	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	380	cd07151	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	442	cd06534	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	399	cd07111	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	394	cd07142	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	399	cd07138	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	403	cd07139	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	408	cd07131	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	391	cd07088	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	396	cd07119	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	372	cd07107	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	388	cd07114	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	383	cd07090	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	381	cd07110	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	400	cd07089	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	379	cd07109	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	374	cd07108	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	373	cd07120	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	395	cd07093	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	374	cd07115	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	368	cd07105	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	353	cd07104	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	359	cd07095	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	369	cd07084	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	371	cd07100	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	394	cd07135	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	393	cd07106	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	399	cd07103	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	374	cd07092	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	374	cd07118	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	360	cd07152	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	398	cd07140	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	397	cd07143	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	501	pfam00171	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	413	cd07091	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	451	cd07124	NULL
501	310128087	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	416	cd07083	NULL
501	310128089	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	No Domain	N/A	NULL
501	310128097	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	No Domain	N/A	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	338	cd07146	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	346	cd07084	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	338	cd07112	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	356	cd07113	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	347	cd07117	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	372	cd07086	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	360	cd07130	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	352	cd07559	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	354	cd07126	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	352	cd07116	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	359	cd07141	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	464	COG1012	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	351	cd07097	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	484	cd07125	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	314	cd07134	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	368	cd07078	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	342	cd07087	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	310	cd07132	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	344	cd07145	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	335	cd07150	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	335	cd07148	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	343	cd07147	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	335	cd07149	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	340	cd07094	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	378	cd07082	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	363	cd07144	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	338	cd07099	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	356	cd07098	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	357	cd07102	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	330	cd07101	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	357	cd07085	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	346	cd07151	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	333	cd07115	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	331	cd07107	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	339	cd07090	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	357	cd07089	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	333	cd07120	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	335	cd07114	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	336	cd07109	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	344	cd07093	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	333	cd07108	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	340	cd07110	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	362	cd07111	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	357	cd07142	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	361	cd07139	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	358	cd07131	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	352	cd07119	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	371	cd07128	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	359	cd07138	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	349	cd07088	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	319	cd07104	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	318	cd07095	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	323	cd07105	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	326	cd07100	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	314	cd07137	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	349	cd07135	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	335	cd07092	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	333	cd07118	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	349	cd07106	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	351	cd07103	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	406	cd07123	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	326	cd07152	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	318	cd07133	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	360	cd07143	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	360	cd07140	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	450	pfam00171	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	393	cd06534	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	369	cd07091	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	408	cd07124	NULL
501	310128091	Disease	p.Glu399Gln	107323.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	377	cd07083	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	85	cd07112	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	107	cd07126	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	96	cd07086	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	95	cd07130	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	98	cd07113	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	96	cd07559	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	95_G	cd07117	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	96	cd07116	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	106	cd07141	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	140	COG1012	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	97	cd07097	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	222	cd07125	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	56	cd07132	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	68	cd07087	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	59	cd07133	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	68	cd07078	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07148	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07150	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07146	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07145	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07149	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07094	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07147	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	114	cd07082	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	106	cd07144	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	215	COG4230	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07102	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	76	cd07101	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07099	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07098	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	96	cd07085	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	59	cd07134	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	90	cd07151	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	86	cd06534	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07108	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07093	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	82	cd07109	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	84	cd07090	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	77	cd07107	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07120	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	81	cd07089	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07114	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07115	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	82	cd07110	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	122	cd07111	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	102	cd07142	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	108	cd07138	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	93	cd07088	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	134	cd07128	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	97	cd07119	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	98	cd07139	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	95	cd07131	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	60	cd07105	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	58	cd07104	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	58	cd07095	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	58	cd07137	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	60	cd07129	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	62	cd07084	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	59	cd07100	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07135	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07103	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	83	cd07106	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	81	cd07092	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07118	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	133_G	cd07123	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	71	cd07152	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	103	cd07140	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	108	cd07143	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	118	pfam00171	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	104	cd07091	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	142	cd07124	NULL
501	310128093	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	115	cd07083	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	95	cd07130	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	96	cd07086	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	106	cd07141	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	97	cd07097	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	68	cd07078	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07149	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07147	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07150	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07145	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	106	cd07144	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	76	cd07101	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07099	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	96	cd07085	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	90	cd07151	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	86	cd06534	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	102	cd07142	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	93	cd07088	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	95	cd07131	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	97	cd07119	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	108	cd07138	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	98	cd07139	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	77	cd07107	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07093	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07115	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	82	cd07109	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07120	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	84	cd07090	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07114	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	81	cd07089	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07108	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	58	cd07104	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	59	cd07100	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	83	cd07106	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07118	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07103	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	108	cd07143	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	71	cd07152	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	118	pfam00171	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	104	cd07091	NULL
501	310128099	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	142	cd07124	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	95	cd07130	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	96	cd07086	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	97	cd07097	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	68	cd07078	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07150	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07149	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07147	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07145	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	114	cd07082	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	106	cd07144	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07099	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	96	cd07085	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	90	cd07151	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	86	cd06534	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	102	cd07142	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	97	cd07119	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	93	cd07088	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	108	cd07138	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	95	cd07131	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	98	cd07139	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07120	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07093	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	82	cd07109	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	81	cd07089	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07114	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	77	cd07107	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	84	cd07090	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07115	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	82	cd07110	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07108	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	58	cd07104	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	59	cd07100	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07118	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	81	cd07092	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	83	cd07106	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07103	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	108	cd07143	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	71	cd07152	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	118	pfam00171	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	104	cd07091	NULL
501	310128101	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	142	cd07124	NULL
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	143	cd07083	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	172	cd07124	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	165	cd07123	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	112	cd07112	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	124	cd07086	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	122	cd07130	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	129	cd07113	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	117	cd07559	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	117	cd07117	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	141	cd07126	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	109	cd07106	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	106	cd07103	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	110	cd07118	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	108	cd07092	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	109	cd07090	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	109	cd07109	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	117	cd07089	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	105	cd07108	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	107	cd07114	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	105	cd07120	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	108	cd07115	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	104	cd07107	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	115	cd07110	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	110	cd07093	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	130	cd07142	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	91_G	cd07095	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	87	cd07104	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	89	cd07105	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	125	cd06534	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	111_G	cd07129	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	94	cd07084	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	88	cd07100	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	93	cd07137	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	137	cd07143	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	134	cd07140	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	93	cd07134	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	115	cd07135	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	124	cd07085	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	100	cd07152	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	143	cd07082	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	118	cd07151	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	124	cd07116	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	180	COG1012	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	124	cd07097	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	133	cd07141	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	162	pfam00171	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	103	cd07098	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	106	cd07102	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	107	cd07099	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	99	cd07101	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	131	cd07091	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	123	cd07131	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	125	cd07119	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	152	cd07128	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	120	cd07088	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	126	cd07139	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	129_G	cd07138	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	107	cd07078	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	100	cd07087	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	83	cd07133	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	84	cd07132	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	134	cd07144	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	139_G	cd07111	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	107	cd07146	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	106	cd07150	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	107	cd07094	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	107	cd07145	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	106	cd07149	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	110	cd07147	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	114	cd07148	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	249	COG4230	188035924,NP_001173
501	294862544	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	251	cd07125	188035924,NP_001173
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	85	cd07112	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	95	cd07130	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	96	cd07559	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	95_G	cd07117	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	107	cd07126	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	96	cd07086	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	98	cd07113	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	106	cd07141	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	96	cd07116	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	140	COG1012	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	97	cd07097	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	222	cd07125	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	68	cd07078	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	56	cd07132	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	68	cd07087	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	59	cd07133	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07145	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07148	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07150	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07094	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07149	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07147	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07146	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	114	cd07082	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	106	cd07144	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	215	COG4230	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	76	cd07101	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07102	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07099	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07098	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	96	cd07085	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	59	cd07134	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	90	cd07151	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	86	cd06534	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	82	cd07110	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	84	cd07090	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	82	cd07109	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07108	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07115	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07114	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	81	cd07089	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07093	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07120	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	77	cd07107	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	122	cd07111	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	102	cd07142	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	108	cd07138	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	95	cd07131	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	93	cd07088	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	134	cd07128	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	98	cd07139	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	97	cd07119	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	58	cd07104	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	60	cd07105	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	58	cd07095	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	58	cd07137	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	59	cd07100	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	62	cd07084	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	60	cd07129	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07135	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	81	cd07092	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07103	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	83	cd07106	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07118	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	133_G	cd07123	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	71	cd07152	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	103	cd07140	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	108	cd07143	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	118	pfam00171	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	104	cd07091	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	142	cd07124	NULL
501	310128103	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	115	cd07083	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	332	cd07090	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	326	cd07118	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	323	cd07101	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	352	cd07138	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	345	cd07119	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	339	cd07151	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	344	cd07097	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	354	cd07139	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	328	cd07114	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	356	cd07144	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	401	cd07124	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	326	cd07108	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	352	cd07141	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	364	cd07128	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	344	cd07103	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	350	cd07142	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	333	cd07094	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	336	cd07147	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	316	cd07105	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	328	cd07148	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	442	pfam00171	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	355	cd07111	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	331	cd07146	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	342	cd07106	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	350	cd07085	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	319	cd07100	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	371	cd07082	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	350	cd07102	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	342	cd07135	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	311	cd07095	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	362	cd07091	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	328	cd07150	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	342	cd07088	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	370	cd07083	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	345	cd07559	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	324	cd07107	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	361	cd07078	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	365	cd07086	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	353	cd07130	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	453	COG1012	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	329	cd07109	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	386	cd06534	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	326	cd07115	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	337	cd07145	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	312	cd07104	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	351	cd07131	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	328	cd07149	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	349	cd07098	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	340	cd07117	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	331	cd07099	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	328	cd07092	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	319	cd07152	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	326	cd07120	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	333	cd07110	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	331	cd07112	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	307	cd07134	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	349	cd07113	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	337	cd07093	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	353	cd07143	NULL
501	310128095	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	350	cd07089	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	85	cd07112	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	95_G	cd07117	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	95	cd07130	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	98	cd07113	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	96	cd07559	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	96	cd07086	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	140	COG1012	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	96	cd07116	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	106	cd07141	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	97	cd07097	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	222	cd07125	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	68	cd07078	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	56	cd07132	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	68	cd07087	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07146	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07145	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07149	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07147	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07148	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07150	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07094	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	114	cd07082	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	106	cd07144	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07099	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	76	cd07101	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07102	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07098	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	96	cd07085	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	90	cd07151	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	86	cd06534	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	122	cd07111	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	102	cd07142	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	108	cd07138	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	98	cd07139	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	95	cd07131	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	93	cd07088	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	97	cd07119	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	77	cd07107	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07114	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	84	cd07090	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	82	cd07110	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	81	cd07089	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	82	cd07109	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07108	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	78	cd07120	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07093	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07115	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	60	cd07105	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	58	cd07104	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	58	cd07095	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	62	cd07084	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	59	cd07100	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07135	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	83	cd07106	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	79	cd07103	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	81	cd07092	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	80	cd07118	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	71	cd07152	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	103	cd07140	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	108	cd07143	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	118	pfam00171	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	104	cd07091	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	142	cd07124	NULL
501	310128087	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	115	cd07083	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	317	cd07085	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	301	cd07135	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	317	cd07089	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	291	cd07108	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	300	cd07110	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	293	cd07109	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	291	cd07107	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	306	cd07088	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	276_G	cd07133	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	307	cd07117	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	296	cd07099	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	305	cd07103	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	276	cd07095	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	295	cd07149	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	293	cd07118	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	293	cd07115	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	300	cd07094	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	304	cd07093	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	295	cd07150	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	297	cd07087	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	320	cd07143	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	272	cd07132	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	272	cd07134	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	288	cd07101	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	316	cd07113	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	320	cd07130	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	294	cd07114	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	293	cd07092	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	306	cd07151	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	298	cd07090	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	337	cd07082	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	443	cd07125	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	312	cd07119	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	279	cd07104	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	311	cd07097	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	306	cd07106	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	326	cd07086	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	286	cd07152	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	321	cd07139	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	284	cd07100	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	319	cd07141	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	277	cd07105	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	295	cd07148	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	303	cd07147	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	298	cd07146	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	304	cd07145	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	315	cd07102	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	335	cd07083	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	395	pfam00171	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	368	cd07124	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	341	cd06534	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	312	cd07559	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	322	cd07078	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	409	COG1012	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	322	cd07111	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	320	cd07140	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	309	cd07098	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	331	cd07128	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	327	cd07091	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	318	cd07138	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	298	cd07112	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	290	cd07120	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	320	cd07144	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	312	cd07131	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	316	cd07142	NULL
501	310128089	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	362	cd07123	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	372	cd07099	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	393	cd07098	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	364	cd07150	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	354	cd07095	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	390	cd07093	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	388	cd07097	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	363	cd07105	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	394	cd07103	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	363	cd07101	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	394	cd07138	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	386	cd07088	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	366	cd07100	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	415	cd07082	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	514	COG1012	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	408	cd07091	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	369	cd07092	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	388	cd07106	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	420	cd07078	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	369	cd07118	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	392	cd07141	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	404	cd07130	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	383	cd07117	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	348	cd07104	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	355	cd07152	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	390	cd07559	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	383	cd07114	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	378	cd07090	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	403	cd07131	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	437	cd06534	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	418	cd07086	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	389	cd07142	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	369	cd07115	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	496	pfam00171	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	398	cd07139	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	367	cd07107	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	368	cd07120	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	367	cd07146	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	392	cd07143	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	394	cd07111	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	395	cd07089	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	391	cd07119	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	369	cd07094	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	376	cd07147	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	401	cd07102	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	376	cd07110	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	399	cd07144	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	375	cd07151	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	374	cd07112	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	389	cd07135	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	369	cd07108	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	388	cd07113	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	374	cd07109	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	378	cd07145	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	404	cd07085	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	446	cd07124	NULL
501	310128097	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	369	cd07149	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	107	cd07146	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	94	cd07084	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	112	cd07112	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	129	cd07113	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	117	cd07117	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	124	cd07086	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	122	cd07130	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	117	cd07559	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	141	cd07126	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	117	cd07116	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	133	cd07141	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	180	COG1012	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	124	cd07097	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	251	cd07125	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	93	cd07134	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	107	cd07078	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	100	cd07087	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	84	cd07132	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	107	cd07145	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	106	cd07150	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	114	cd07148	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	110	cd07147	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	106	cd07149	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	107	cd07094	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	143	cd07082	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	134	cd07144	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	107	cd07099	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	103	cd07098	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	85	cd07102	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	99	cd07101	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	124	cd07085	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	118	cd07151	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	108	cd07115	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	104	cd07107	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	109	cd07090	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	117	cd07089	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	105	cd07120	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	107	cd07114	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	109	cd07109	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	99	cd07093	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	105	cd07108	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	115	cd07110	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	127	cd07111	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	130	cd07142	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	126	cd07139	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	123	cd07131	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	125	cd07119	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	121	cd07128	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	129_G	cd07138	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	120	cd07088	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	87	cd07104	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	91_G	cd07095	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	89	cd07105	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	88	cd07100	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	93	cd07137	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	115	cd07135	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	108	cd07092	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	110	cd07118	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	109	cd07106	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	106	cd07103	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	165	cd07123	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	100	cd07152	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	83	cd07133	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	137	cd07143	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	134	cd07140	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	162	pfam00171	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	125	cd06534	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	131	cd07091	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	172	cd07124	NULL
501	310128091	Disease	p.Ala171Val	107323.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	143	cd07083	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	190	cd07112	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	207	cd07126	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	201	cd07086	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	199	cd07130	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	202	cd07113	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	194	cd07559	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	194	cd07117	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	194	cd07116	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	204	cd07141	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	269	COG1012	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	195	cd07097	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	321	cd07125	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	161	cd07132	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	175	cd07087	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	164_G	cd07133	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	186	cd07078	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	182	cd07148	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07150	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	183	cd07146	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	190	cd07145	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	182	cd07149	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	187	cd07094	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	185	cd07147	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	222	cd07082	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	205	cd07144	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	314	COG4230	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	191	cd07102	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	176	cd07101	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	182	cd07099	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	187	cd07098	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	202	cd07085	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	161_G	cd07134	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	191	cd07151	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	205	cd06534	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	176	cd07108	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	185	cd07093	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07109	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	181	cd07090	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	174	cd07107	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	177	cd07120	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	200	cd07089	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07114	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07115	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	187	cd07110	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	209	cd07111	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	202	cd07142	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	200	cd07138	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	192	cd07088	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	213	cd07128	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	198	cd07119	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	205	cd07139	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	195	cd07131	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	161	cd07105	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	160	cd07104	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	160	cd07095	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	159	cd07137	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	178	cd07129	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	175	cd07084	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	166	cd07100	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	185	cd07135	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	182	cd07103	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	184	cd07106	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	180	cd07092	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07118	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	236	cd07123	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	173	cd07152	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	206	cd07140	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	206	cd07143	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	253	pfam00171	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	219	cd07091	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	248	cd07124	NULL
501	310128093	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	215	cd07083	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	199	cd07130	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	201	cd07086	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	344	cd07141	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	195	cd07097	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	186	cd07078	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	182	cd07149	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	185	cd07147	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07150	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	190	cd07145	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	205	cd07144	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	176	cd07101	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	182	cd07099	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	202	cd07085	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	191	cd07151	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	205	cd06534	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	202	cd07142	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	192	cd07088	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	195	cd07131	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	198	cd07119	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	331	cd07138	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	282	cd07139	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	174	cd07107	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	185	cd07093	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07115	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07109	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	177	cd07120	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	181	cd07090	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07114	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	200	cd07089	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	285	cd07108	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	160	cd07104	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	278	cd07100	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	184	cd07106	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07118	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	182	cd07103	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	206	cd07143	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	173	cd07152	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	253	pfam00171	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	219	cd07091	NULL
501	310128099	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	248	cd07124	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	199	cd07130	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	201	cd07086	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	195	cd07097	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	186	cd07078	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07150	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	182	cd07149	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	185	cd07147	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	190	cd07145	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	222	cd07082	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	205	cd07144	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	182	cd07099	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	202	cd07085	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	191	cd07151	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	205	cd06534	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	202	cd07142	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	198	cd07119	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	192	cd07088	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	200	cd07138	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	195	cd07131	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	282	cd07139	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	177	cd07120	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	185	cd07093	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07109	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	200	cd07089	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07114	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	174	cd07107	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	181	cd07090	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07115	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	187	cd07110	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	285	cd07108	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	160	cd07104	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	278	cd07100	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07118	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	180	cd07092	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	184	cd07106	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	182	cd07103	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	206	cd07143	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	173	cd07152	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	253	pfam00171	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	321	cd07091	NULL
501	310128101	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	248	cd07124	NULL
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	243	cd07083	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	275	cd07124	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	264	cd07123	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	210	cd07112	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	232	cd07086	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	227	cd07130	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	229	cd07113	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	221	cd07559	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	221	cd07117	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	234	cd07126	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	214	cd07106	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	214	cd07103	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	206	cd07118	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	207	cd07092	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	209	cd07090	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	207	cd07109	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	228	cd07089	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	203	cd07108	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	206	cd07114	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	204	cd07120	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	206	cd07115	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	201	cd07107	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	214	cd07110	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	214	cd07093	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	229	cd07142	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	187	cd07095	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	191	cd07104	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	191	cd07105	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	237	cd06534	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	207	cd07129	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	204	cd07084	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	196	cd07100	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	184	cd07137	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	233	cd07143	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	233	cd07140	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	186	cd07134	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	212	cd07135	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	229	cd07085	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	200	cd07152	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	249	cd07082	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	218	cd07151	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	221	cd07116	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	301	COG1012	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	223	cd07097	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	231	cd07141	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	285	pfam00171	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	219	cd07098	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	219	cd07102	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	210	cd07099	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	202	cd07101	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	239	cd07091	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	225	cd07131	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	226	cd07119	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	237	cd07128	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	220	cd07088	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	232	cd07139	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	227	cd07138	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	218	cd07078	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	206	cd07087	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	188	cd07133	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	184	cd07132	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	232	cd07144	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	236	cd07111	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	211	cd07146	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	209	cd07150	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	214	cd07094	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	217	cd07145	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	210	cd07149	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	211	cd07147	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	210	cd07148	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	342	COG4230	188035924,NP_001173
501	294862544	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	349	cd07125	188035924,NP_001173
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	190	cd07112	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	199	cd07130	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	194	cd07559	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	194	cd07117	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	207	cd07126	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	201	cd07086	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	202	cd07113	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	204	cd07141	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	194	cd07116	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	269	COG1012	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	195	cd07097	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	321	cd07125	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	186	cd07078	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	161	cd07132	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	175	cd07087	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	164_G	cd07133	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	190	cd07145	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	182	cd07148	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07150	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	187	cd07094	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	182	cd07149	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	185	cd07147	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	183	cd07146	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	222	cd07082	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	205	cd07144	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	314	COG4230	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	176	cd07101	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	191	cd07102	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	182	cd07099	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	187	cd07098	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	202	cd07085	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	161_G	cd07134	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	191	cd07151	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	205	cd06534	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	187	cd07110	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	181	cd07090	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07109	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	176	cd07108	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07115	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07114	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	200	cd07089	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	185	cd07093	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	177	cd07120	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	174	cd07107	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	209	cd07111	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	202	cd07142	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	200	cd07138	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	195	cd07131	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	192	cd07088	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	213	cd07128	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	205	cd07139	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	198	cd07119	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	160	cd07104	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	161	cd07105	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	160	cd07095	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	159	cd07137	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	166	cd07100	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	175	cd07084	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	178	cd07129	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	185	cd07135	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	180	cd07092	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	182	cd07103	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	184	cd07106	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07118	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	236	cd07123	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	173	cd07152	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	206	cd07140	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	206	cd07143	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	253	pfam00171	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	219	cd07091	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	248	cd07124	NULL
501	310128103	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	215	cd07083	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	439_G	cd07090	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	430_G	cd07118	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	426	cd07101	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	459	cd07138	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	492	cd07119	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	436	cd07151	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	449	cd07097	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	463	cd07139	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	443_G	cd07114	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	459	cd07144	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	509	cd07124	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	429	cd07108	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	454	cd07141	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	487	cd07128	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	466_G	cd07103	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	449_G	cd07142	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	430	cd07094	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	431_G	cd07147	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	426	cd07105	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	440	cd07148	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	571	pfam00171	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	455_G	cd07111	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	430_G	cd07146	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	451	cd07106	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	427_G	cd07100	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	474	cd07082	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	457_G	cd07135	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	413	cd07095	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	468	cd07091	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	425	cd07150	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	477	cd07083	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	450	cd07559	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	427	cd07107	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	501	cd07078	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	482	cd07086	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	468	cd07130	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	593	COG1012	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	435	cd07109	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	527	cd06534	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	428	cd07115	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	425	cd07145	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	409	cd07104	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	466	cd07131	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	424	cd07149	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	459_G	cd07098	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	443	cd07117	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	435	cd07099	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	429_G	cd07092	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	416	cd07152	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	427	cd07120	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	436	cd07110	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	434	cd07112	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	422	cd07134	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	446	cd07113	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	450_G	cd07093	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	452	cd07143	NULL
501	310128095	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	459	cd07089	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	190	cd07112	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	194	cd07117	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	199	cd07130	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	202	cd07113	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	194	cd07559	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	201	cd07086	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	269	COG1012	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	194	cd07116	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	204	cd07141	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	195	cd07097	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	321	cd07125	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	186	cd07078	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	161	cd07132	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	175	cd07087	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	183	cd07146	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	190	cd07145	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	182	cd07149	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	185	cd07147	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	182	cd07148	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07150	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	187	cd07094	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	222	cd07082	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	205	cd07144	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	182	cd07099	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	176	cd07101	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	191	cd07102	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	187	cd07098	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	202	cd07085	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	191	cd07151	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	205	cd06534	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	209	cd07111	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	202	cd07142	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	200	cd07138	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	205	cd07139	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	195	cd07131	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	192	cd07088	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	198	cd07119	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	174	cd07107	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07114	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	181	cd07090	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	187	cd07110	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	200	cd07089	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07109	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	176	cd07108	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	177	cd07120	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	185	cd07093	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07115	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	161	cd07105	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	160	cd07104	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	160	cd07095	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	175	cd07084	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	166	cd07100	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	185	cd07135	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	184	cd07106	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	182	cd07103	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	180	cd07092	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	179	cd07118	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	173	cd07152	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	206	cd07140	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	206	cd07143	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	253	pfam00171	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	219	cd07091	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	248	cd07124	NULL
501	310128087	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	215	cd07083	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	434	cd07085	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	420	cd07135	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	428	cd07089	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	399	cd07108	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	406	cd07110	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	404	cd07109	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	397	cd07107	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	416	cd07088	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	413	cd07117	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	402	cd07099	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	432	cd07103	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	384	cd07095	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	399	cd07149	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	399	cd07118	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	399	cd07115	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	399	cd07094	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	420	cd07093	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	394	cd07150	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	422	cd07143	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	433	cd07132	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	375	cd07134	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	393	cd07101	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	418	cd07113	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	435	cd07130	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	413	cd07114	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	399	cd07092	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	405	cd07151	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	408	cd07090	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	445	cd07082	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	554	cd07125	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	423	cd07119	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	378	cd07104	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	418	cd07097	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	419	cd07106	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	449	cd07086	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	385	cd07152	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	433	cd07139	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	396	cd07100	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	422	cd07141	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	393	cd07105	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	395	cd07148	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	406	cd07147	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	398	cd07146	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	408	cd07145	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	431	cd07102	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	443	cd07083	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	535	pfam00171	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	476	cd07124	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	480	cd06534	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	420	cd07559	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	458	cd07078	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	551	COG1012	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	424	cd07111	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	425	cd07140	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	425	cd07098	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	454	cd07128	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	440	cd07091	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	430	cd07138	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	404	cd07112	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	398	cd07120	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	429	cd07144	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	434	cd07131	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	419	cd07142	NULL
501	310128089	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	477	cd07123	NULL
501	310128097	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	No Domain	N/A	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	211	cd07146	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	204	cd07084	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	210	cd07112	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	229	cd07113	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	221	cd07117	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	232	cd07086	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	227	cd07130	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	221	cd07559	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	234	cd07126	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	221	cd07116	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	231	cd07141	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	301	COG1012	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	223	cd07097	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	349	cd07125	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	186	cd07134	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	218	cd07078	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	206	cd07087	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	184	cd07132	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	217	cd07145	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	209	cd07150	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	210	cd07148	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	211	cd07147	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	210	cd07149	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	214	cd07094	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	249	cd07082	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	232	cd07144	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	210	cd07099	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	219	cd07098	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	219	cd07102	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	202	cd07101	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	229	cd07085	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	218	cd07151	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	206	cd07115	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	201	cd07107	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	209	cd07090	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	228	cd07089	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	204	cd07120	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	206	cd07114	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	207	cd07109	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	214	cd07093	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	203	cd07108	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	214	cd07110	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	236	cd07111	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	229	cd07142	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	232	cd07139	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	225	cd07131	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	226	cd07119	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	237	cd07128	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	227	cd07138	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	220	cd07088	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	191	cd07104	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	187	cd07095	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	191	cd07105	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	196	cd07100	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	184	cd07137	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	212	cd07135	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	207	cd07092	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	206	cd07118	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	214	cd07106	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	214	cd07103	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	264	cd07123	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	200	cd07152	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	188	cd07133	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	233	cd07143	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	233	cd07140	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	285	pfam00171	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	237	cd06534	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	239	cd07091	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	275	cd07124	NULL
501	310128091	Disease	p.Asn273Ile	107323.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107323	EPILEPSY, PYRIDOXINE-DEPENDENT	OMIM	243	cd07083	NULL
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	321	cd02048	4502261,NP_000479
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	354	cd02043	4502261,NP_000479
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	750	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	325	cd02052	4502261,NP_000479
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	392	cd02047	4502261,NP_000479
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	357	cd02058	4502261,NP_000479
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	363	cd02059	4502261,NP_000479
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	320	cd02057	4502261,NP_000479
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	335	cd02044	4502261,NP_000479
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	302	cd02053	4502261,NP_000479
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	331	cd02049	4502261,NP_000479
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	328	cd02045	4502261,NP_000479
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	531	smart00093	4502261,NP_000479
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	370	cd02051	4502261,NP_000479
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	370	COG4826	4502261,NP_000479
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	333	cd02054	4502261,NP_000479
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	663	cd00172	4502261,NP_000479
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	322	cd02056	4502261,NP_000479
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	310	cd02050	4502261,NP_000479
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	314	cd02055	4502261,NP_000479
462	113936	Disease	p.Ala404Thr	107300.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	317	cd02046	4502261,NP_000479
79742	193804856	Disease	p.Ala404Thr	107300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	MOVED TO 107300.0007	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Ala404Thr	107300.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	MOVED TO 107300.0007	OMIM	No Domain	N/A	193804854,NP_789789
462	113936	Disease	p.Arg47Cys	107300.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	30	cd02047	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	303	cd02048	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	331	cd02043	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	623	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	309_G	cd02052	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	375	cd02047	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	339	cd02058	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	345	cd02059	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	302	cd02057	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	317	cd02044	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	285	cd02053	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	309	cd02049	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	307	cd02045	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	508	smart00093	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	352	cd02051	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	352	COG4826	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	317_G	cd02054	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	485	cd00172	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	304	cd02056	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	292	cd02050	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	295	cd02055	4502261,NP_000479
462	113936	Disease	p.Ala384Pro	107300.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	299	cd02046	4502261,NP_000479
79742	193804856	Disease	p.Ala384Pro	107300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	MOVED TO 107300.0003	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Ala384Pro	107300.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	MOVED TO 107300.0003	OMIM	No Domain	N/A	193804854,NP_789789
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	310	cd02048	4502261,NP_000479
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	343	cd02043	4502261,NP_000479
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	739	pfam00079	4502261,NP_000479
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	314_G	cd02052	4502261,NP_000479
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	381	cd02047	4502261,NP_000479
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	346	cd02058	4502261,NP_000479
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	352_G	cd02059	4502261,NP_000479
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	309	cd02057	4502261,NP_000479
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	324	cd02044	4502261,NP_000479
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	291	cd02053	4502261,NP_000479
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	320	cd02049	4502261,NP_000479
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	317	cd02045	4502261,NP_000479
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	520	smart00093	4502261,NP_000479
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	359	cd02051	4502261,NP_000479
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	357	COG4826	4502261,NP_000479
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	322	cd02054	4502261,NP_000479
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	652	cd00172	4502261,NP_000479
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	311_G	cd02056	4502261,NP_000479
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	299	cd02050	4502261,NP_000479
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	303	cd02055	4502261,NP_000479
462	113936	Disease	p.Arg393Pro	107300.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	306	cd02046	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	311	cd02048	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	344	cd02043	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	740	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	315	cd02052	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	382	cd02047	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	347	cd02058	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	353	cd02059	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	310	cd02057	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	325	cd02044	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	292	cd02053	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	321	cd02049	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	318	cd02045	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	521	smart00093	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	360	cd02051	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	360	COG4826	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	323	cd02054	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	653	cd00172	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	312	cd02056	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	300	cd02050	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	304	cd02055	4502261,NP_000479
462	113936	Disease	p.Ser394Leu	107300.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	307	cd02046	4502261,NP_000479
462	113936	Disease	p.Pro41Leu	107300.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	23	cd02047	4502261,NP_000479
462	113936	Disease	p.Arg47His	107300.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	30	cd02047	4502261,NP_000479
462	113936	Disease	p.Arg47Ser	107300.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	30	cd02047	4502261,NP_000479
79742	193804856	Disease	p.Arg47Ser	107300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	MOVED TO 107300.0003	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Arg47Ser	107300.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	MOVED TO 107300.0003	OMIM	No Domain	N/A	193804854,NP_789789
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	310	cd02048	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	343	cd02043	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	739	pfam00079	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	314_G	cd02052	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	381	cd02047	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	346	cd02058	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	352_G	cd02059	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	309	cd02057	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	324	cd02044	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	291	cd02053	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	320	cd02049	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	317	cd02045	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	520	smart00093	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	359	cd02051	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	357	COG4826	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	322	cd02054	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	652	cd00172	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	311_G	cd02056	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	299	cd02050	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	303	cd02055	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	306	cd02046	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	324	cd02048	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	357	cd02043	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	753	pfam00079	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	328	cd02052	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	395	cd02047	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	360	cd02058	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	366	cd02059	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	323	cd02057	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	338	cd02044	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	305	cd02053	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	334	cd02049	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	331	cd02045	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	537	smart00093	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	373	cd02051	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	373	COG4826	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	336	cd02054	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	666	cd00172	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	325	cd02056	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	313	cd02050	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	317	cd02055	4502261,NP_000479
462	113936	Disease	p.Pro407Leu	107300.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	320	cd02046	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	310	cd02048	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	343	cd02043	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	739	pfam00079	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	314_G	cd02052	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	381	cd02047	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	346	cd02058	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	352_G	cd02059	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	309	cd02057	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	324	cd02044	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	291	cd02053	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	320	cd02049	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	317	cd02045	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	520	smart00093	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	359	cd02051	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	357	COG4826	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	322	cd02054	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	652	cd00172	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	311_G	cd02056	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	299	cd02050	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	303	cd02055	4502261,NP_000479
462	113936	Disease	p.Arg393Cys	107300.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	306	cd02046	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	310	cd02048	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	343	cd02043	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	739	pfam00079	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	314_G	cd02052	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	381	cd02047	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	346	cd02058	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	352_G	cd02059	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	309	cd02057	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	324	cd02044	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	291	cd02053	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	320	cd02049	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	317	cd02045	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	520	smart00093	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	359	cd02051	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	357	COG4826	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	322	cd02054	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	652	cd00172	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	311_G	cd02056	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	299	cd02050	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	303	cd02055	4502261,NP_000479
462	113936	Disease	p.Arg393His	107300.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	306	cd02046	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	301	cd02048	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	329	cd02043	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	620	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	309	cd02052	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	373	cd02047	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	337	cd02058	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	343	cd02059	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	300	cd02057	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	315	cd02044	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	283_G	cd02053	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	307	cd02049	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	305	cd02045	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	506	smart00093	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	350	cd02051	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	350	COG4826	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	316	cd02054	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	483	cd00172	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	302	cd02056	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	290	cd02050	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	293	cd02055	4502261,NP_000479
462	113936	Disease	p.Ala382Thr	107300.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	297	cd02046	4502261,NP_000479
462	113936	Disease	p.Ile7Asn	107300.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	No Domain	N/A	4502261,NP_000479
79742	193804856	Disease	p.Ile7Asn	107300.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	MOVED TO 107300.0012	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Ile7Asn	107300.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	MOVED TO 107300.0012	OMIM	No Domain	N/A	193804854,NP_789789
79742	193804856	Disease	p.Ile7Asn	107300.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	MOVED TO 107300.0003	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Ile7Asn	107300.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	MOVED TO 107300.0003	OMIM	No Domain	N/A	193804854,NP_789789
462	113936	Disease	p.Arg24Cys	107300.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	No Domain	N/A	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	303	cd02048	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	331	cd02043	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	623	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	309_G	cd02052	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	375	cd02047	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	339	cd02058	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	345	cd02059	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	302	cd02057	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	317	cd02044	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	285	cd02053	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	309	cd02049	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	307	cd02045	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	508	smart00093	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	352	cd02051	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	352	COG4826	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	317_G	cd02054	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	485	cd00172	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	304	cd02056	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	292	cd02050	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	295	cd02055	4502261,NP_000479
462	113936	Disease	p.Ala384Ser	107300.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	299	cd02046	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	204	cd02048	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	219	cd02043	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	390	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	216	cd02052	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	283	cd02047	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	239	cd02058	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	244	cd02059	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	202	cd02057	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	216	cd02044	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	193	cd02053	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	212	cd02049	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	213	cd02045	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	346	smart00093	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	254	cd02051	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	256	COG4826	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	220	cd02054	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	293	cd00172	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	205	cd02056	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	191	cd02050	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	203	cd02055	4502261,NP_000479
462	113936	Disease	p.Ser291Pro	107300.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	206	cd02046	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	229	cd02048	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	238	cd02043	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	456	pfam00079	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	234	cd02052	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	301_G	cd02047	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	258	cd02058	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	263	cd02059	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	221	cd02057	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	235	cd02044	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	213_G	cd02053	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	229	cd02049	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	232	cd02045	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	381	smart00093	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	276	cd02051	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	275	COG4826	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	238	cd02054	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	318	cd00172	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	223_G	cd02056	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	213_G	cd02050	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	222	cd02055	4502261,NP_000479
462	113936	Disease	p.Asp309Lys	107300.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	224	cd02046	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	45	cd02048	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	50	cd02043	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	65	pfam00079	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	60	cd02052	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	122	cd02047	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	46	cd02058	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	46	cd02059	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	46	cd02057	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	46	cd02044	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	46	cd02053	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	57	cd02049	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	51	cd02045	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	48	smart00093	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	52	cd02051	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	97	COG4826	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	49	cd02054	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	58	cd00172	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	46	cd02056	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	44	cd02050	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	46	cd02055	4502261,NP_000479
462	113936	Disease	p.Arg129Gln	107300.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	48	cd02046	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	347	cd02048	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	384	cd02043	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	834	pfam00079	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	349_G	cd02052	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	415_G	cd02047	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	382	cd02058	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	388	cd02059	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	340_G	cd02057	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	362	cd02044	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	325_G	cd02053	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	359	cd02049	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	353	cd02045	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	572	smart00093	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	394	cd02051	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	395	COG4826	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	356	cd02054	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	711	cd00172	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	348	cd02056	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	332_G	cd02050	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	339	cd02055	4502261,NP_000479
462	113936	Disease	p.Pro429Leu	107300.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	338	cd02046	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	269	cd02048	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	296	cd02043	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	551	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	275	cd02052	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	341	cd02047	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	304	cd02058	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	310	cd02059	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	267	cd02057	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	282	cd02044	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	252	cd02053	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	273	cd02049	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	272	cd02045	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	454	smart00093	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	317	cd02051	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	317	COG4826	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	278	cd02054	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	427	cd00172	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	270	cd02056	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	255	cd02050	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	261	cd02055	4502261,NP_000479
462	113936	Disease	p.Ser349Pro	107300.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	264	cd02046	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	309	cd02048	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	342	cd02043	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	738	pfam00079	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	314_G	cd02052	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	380_G	cd02047	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	345	cd02058	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	352_G	cd02059	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	308_G	cd02057	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	323	cd02044	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	290_G	cd02053	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	319	cd02049	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	316	cd02045	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	518	smart00093	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	358	cd02051	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	356	COG4826	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	321	cd02054	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	651	cd00172	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	311_G	cd02056	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	298	cd02050	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	302_G	cd02055	4502261,NP_000479
462	113936	Disease	p.Gly392Asp	107300.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	305	cd02046	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	16	cd02048	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	15	cd02043	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	15	pfam00079	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	31	cd02052	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	92	cd02047	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	17	cd02058	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	16_G	cd02059	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	17	cd02057	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	17	cd02044	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	17	cd02053	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	17	cd02049	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	21	cd02045	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	8	smart00093	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	23	cd02051	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	66	COG4826	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	18	cd02054	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	14	cd00172	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	14	cd02056	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	14	cd02050	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	18	cd02055	4502261,NP_000479
462	113936	Disease	p.Leu99Phe	107300.0038	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	19	cd02046	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	306	cd02048	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	338	cd02043	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	704	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	311	cd02052	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	378	cd02047	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	342	cd02058	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	348	cd02059	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	304_G	cd02057	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	319_G	cd02044	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	288	cd02053	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	314	cd02049	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	311	cd02045	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	512	smart00093	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	355	cd02051	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	355	COG4826	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	317_G	cd02054	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	646	cd00172	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	307	cd02056	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	295	cd02050	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	298	cd02055	4502261,NP_000479
462	113936	Disease	p.Ala387Val	107300.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	302	cd02046	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	32	cd02048	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	35	cd02043	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	50	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	47	cd02052	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	109	cd02047	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	33	cd02058	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	33	cd02059	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	33	cd02057	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	33	cd02044	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	33	cd02053	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	44	cd02049	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	38	cd02045	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	35	smart00093	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	39	cd02051	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	84	COG4826	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	36	cd02054	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	38	cd00172	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	33	cd02056	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	31	cd02050	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	33	cd02055	4502261,NP_000479
462	113936	Disease	p.Ser116Pro	107300.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	35	cd02046	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	51	cd02048	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	56	cd02043	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	73	pfam00079	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	66	cd02052	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	128	cd02047	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	52	cd02058	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	52	cd02059	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	52	cd02057	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	52	cd02044	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	52	cd02053	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	63	cd02049	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	57	cd02045	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	54	smart00093	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	58	cd02051	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	103	COG4826	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	58	cd02054	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	64	cd00172	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	52	cd02056	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	50	cd02050	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	52	cd02055	4502261,NP_000479
462	113936	Disease	p.Asn135Thr	107300.0045	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	54	cd02046	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	99	cd02048	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	111	cd02043	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	229	pfam00079	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	112	cd02052	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	183	cd02047	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	135	cd02058	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	134	cd02059	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	98	cd02057	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	112	cd02044	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	94	cd02053	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	111	cd02049	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	109	cd02045	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	227	smart00093	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	150	cd02051	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	151	COG4826	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	122	cd02054	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	169	cd00172	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	102	cd02056	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	92	cd02050	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	102	cd02055	4502261,NP_000479
462	113936	Disease	p.Asn187Asp	107300.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	103	cd02046	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	103	cd02048	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	115	cd02043	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	233	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	116	cd02052	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	187	cd02047	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	139	cd02058	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	138	cd02059	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	102	cd02057	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	116	cd02044	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	98	cd02053	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	115	cd02049	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	113	cd02045	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	231	smart00093	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	154	cd02051	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	155	COG4826	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	126	cd02054	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	173	cd00172	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	106	cd02056	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	96	cd02050	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	106	cd02055	4502261,NP_000479
462	113936	Disease	p.Ser191Pro	107300.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	107	cd02046	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	12	cd02048	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	11	cd02043	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	11	pfam00079	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	27	cd02052	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	88	cd02047	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	13	cd02058	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	13	cd02059	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	13	cd02057	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	13	cd02044	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	13	cd02053	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	13	cd02049	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	17	cd02045	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	4	smart00093	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	19	cd02051	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	62	COG4826	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	14	cd02054	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	10	cd00172	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	10	cd02056	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	10	cd02050	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	14	cd02055	4502261,NP_000479
462	113936	Disease	p.Cys95Arg	107300.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107300	THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO ANTITHROMBIN III DEFICIENCY	OMIM	15	cd02046	4502261,NP_000479
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	351_G	cd02052	50659080,NP_001076
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	348	cd02048	50659080,NP_001076
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	835	pfam00079	50659080,NP_001076
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	383	cd02043	50659080,NP_001076
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	622	smart00093	50659080,NP_001076
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	337_G	cd02055	50659080,NP_001076
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	354	cd02045	50659080,NP_001076
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	340_G	cd02046	50659080,NP_001076
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	353	cd02054	50659080,NP_001076
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	329	cd02050	50659080,NP_001076
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	712	cd00172	50659080,NP_001076
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	349	cd02056	50659080,NP_001076
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	417	cd02047	50659080,NP_001076
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	397	COG4826	50659080,NP_001076
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	325_G	cd02053	50659080,NP_001076
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	360	cd02049	50659080,NP_001076
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	362	cd02044	50659080,NP_001076
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	389	cd02059	50659080,NP_001076
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	380_G	cd02058	50659080,NP_001076
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	341	cd02057	50659080,NP_001076
12	112874	Disease	p.Met389Val	107280.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN ISEHARA 1	OMIM	394	cd02051	50659080,NP_001076
12	112874	Disease	p.Leu55Pro	107280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BOCHUM 1	OMIM	21	cd02052	50659080,NP_001076
12	112874	Disease	p.Leu55Pro	107280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BOCHUM 1	OMIM	6	cd02048	50659080,NP_001076
12	112874	Disease	p.Leu55Pro	107280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BOCHUM 1	OMIM	5	pfam00079	50659080,NP_001076
12	112874	Disease	p.Leu55Pro	107280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BOCHUM 1	OMIM	5	cd02043	50659080,NP_001076
12	112874	Disease	p.Leu55Pro	107280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BOCHUM 1	OMIM	8	cd02055	50659080,NP_001076
12	112874	Disease	p.Leu55Pro	107280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BOCHUM 1	OMIM	11	cd02045	50659080,NP_001076
12	112874	Disease	p.Leu55Pro	107280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BOCHUM 1	OMIM	9	cd02046	50659080,NP_001076
12	112874	Disease	p.Leu55Pro	107280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BOCHUM 1	OMIM	4	cd02054	50659080,NP_001076
12	112874	Disease	p.Leu55Pro	107280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BOCHUM 1	OMIM	4	cd02050	50659080,NP_001076
12	112874	Disease	p.Leu55Pro	107280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BOCHUM 1	OMIM	4	cd00172	50659080,NP_001076
12	112874	Disease	p.Leu55Pro	107280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BOCHUM 1	OMIM	4	cd02056	50659080,NP_001076
12	112874	Disease	p.Leu55Pro	107280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BOCHUM 1	OMIM	82	cd02047	50659080,NP_001076
12	112874	Disease	p.Leu55Pro	107280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BOCHUM 1	OMIM	56	COG4826	50659080,NP_001076
12	112874	Disease	p.Leu55Pro	107280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BOCHUM 1	OMIM	7	cd02053	50659080,NP_001076
12	112874	Disease	p.Leu55Pro	107280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BOCHUM 1	OMIM	7	cd02049	50659080,NP_001076
12	112874	Disease	p.Leu55Pro	107280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BOCHUM 1	OMIM	7	cd02044	50659080,NP_001076
12	112874	Disease	p.Leu55Pro	107280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BOCHUM 1	OMIM	7	cd02059	50659080,NP_001076
12	112874	Disease	p.Leu55Pro	107280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BOCHUM 1	OMIM	7	cd02058	50659080,NP_001076
12	112874	Disease	p.Leu55Pro	107280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BOCHUM 1	OMIM	7	cd02057	50659080,NP_001076
12	112874	Disease	p.Leu55Pro	107280.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BOCHUM 1	OMIM	13	cd02051	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	193	cd02052	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	180	cd02048	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	342	pfam00079	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	195	cd02043	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	321	smart00093	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	181	cd02055	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	191	cd02045	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	182	cd02046	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	198	cd02054	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	172	cd02050	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	266	cd00172	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	181	cd02056	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	261	cd02047	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	234	COG4826	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	172	cd02053	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	190	cd02049	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	194	cd02044	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	222	cd02059	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	217	cd02058	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	180	cd02057	50659080,NP_001076
12	112874	Disease	p.Pro229Ala	107280.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107280	ANTICHYMOTRYPSIN BONN 1	OMIM	232	cd02051	50659080,NP_001076
960	48255943	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	19	cd01102	NULL
960	48255943	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	16	pfam00193	NULL
960	48255943	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	18	smart00445	NULL
960	48255943	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	22	cd03516	NULL
960	308153615	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	16	cd03518	48255935,NP_000601
960	308153615	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	18	cd03517	48255935,NP_000601
960	308153615	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	16	pfam00193	48255935,NP_000601
960	308153615	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	16	cd03515	48255935,NP_000601
960	308153615	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	19	cd01102	48255935,NP_000601
960	308153615	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	14_G	cd03520	48255935,NP_000601
960	308153615	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	18	smart00445	48255935,NP_000601
960	308153615	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	22	cd03516	48255935,NP_000601
960	48255941	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	16	cd03518	NULL
960	48255941	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	18	cd03517	NULL
960	48255941	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	16	pfam00193	NULL
960	48255941	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	16	cd03515	NULL
960	48255941	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	19	cd01102	NULL
960	48255941	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	14_G	cd03520	NULL
960	48255941	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	18	smart00445	NULL
960	48255941	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	22	cd03516	NULL
960	48255939	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	16	cd03518	NULL
960	48255939	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	18	cd03517	NULL
960	48255939	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	16	pfam00193	NULL
960	48255939	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	16	cd03515	NULL
960	48255939	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	19	cd01102	NULL
960	48255939	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	14_G	cd03520	NULL
960	48255939	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	18	smart00445	NULL
960	48255939	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	22	cd03516	NULL
960	48255937	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	16	cd03518	NULL
960	48255937	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	18	cd03517	NULL
960	48255937	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	16	pfam00193	NULL
960	48255937	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	16	cd03515	NULL
960	48255937	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	19	cd01102	NULL
960	48255937	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	14_G	cd03520	NULL
960	48255937	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	18	smart00445	NULL
960	48255937	Disease	p.Arg46Gly	107269.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107269	INDIAN BLOOD GROUP SYSTEM POLYMORPHISM	OMIM	22	cd03516	NULL
287	52426735	Disease	p.Glu1425Gly	106410.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106410	LONG QT SYNDROME 4||CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED	OMIM	No Domain	N/A	NULL
287	188595682	Disease	p.Glu1425Gly	106410.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106410	LONG QT SYNDROME 4||CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED	OMIM	No Domain	N/A	NULL
287	52426737	Disease	p.Glu1425Gly	106410.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106410	LONG QT SYNDROME 4||CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED	OMIM	No Domain	N/A	NULL
287	52426735	Disease	p.Thr1626Asn	106410.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106410	CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED	OMIM	No Domain	N/A	NULL
287	188595682	Disease	p.Thr1626Asn	106410.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106410	CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED	OMIM	No Domain	N/A	NULL
287	52426737	Disease	p.Thr1626Asn	106410.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106410	CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED	OMIM	No Domain	N/A	NULL
287	52426735	Disease	p.Leu1622Ile	106410.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106410	CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED	OMIM	No Domain	N/A	NULL
287	188595682	Disease	p.Leu1622Ile	106410.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106410	CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED	OMIM	No Domain	N/A	NULL
287	52426737	Disease	p.Leu1622Ile	106410.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106410	CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED	OMIM	No Domain	N/A	NULL
287	52426735	Disease	p.Arg1788Trp	106410.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106410	LONG QT SYNDROME 4	OMIM	No Domain	N/A	NULL
287	188595682	Disease	p.Arg1788Trp	106410.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106410	LONG QT SYNDROME 4	OMIM	No Domain	N/A	NULL
287	52426737	Disease	p.Arg1788Trp	106410.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106410	LONG QT SYNDROME 4	OMIM	No Domain	N/A	NULL
287	52426735	Disease	p.Glu1813Lys	106410.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106410	CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED	OMIM	No Domain	N/A	NULL
287	188595682	Disease	p.Glu1813Lys	106410.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106410	CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED	OMIM	No Domain	N/A	NULL
287	52426737	Disease	p.Glu1813Lys	106410.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106410	CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED	OMIM	No Domain	N/A	NULL
1636	295844837	Disease	p.Pro1199Leu	106180.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106180	ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE	OMIM	No Domain	N/A	NULL
1636	23238214	Disease	p.Pro1199Leu	106180.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106180	ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE	OMIM	No Domain	N/A	NULL
1636	113045	Disease	p.Pro1199Leu	106180.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106180	ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE	OMIM	627	cd06461	4503273,NP_000780
1636	113045	Disease	p.Pro1199Leu	106180.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106180	ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE	OMIM	571	pfam01401	4503273,NP_000780
1636	113045	Disease	p.Pro1199Leu	106180.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106180	ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE	OMIM	519	cd06258	4503273,NP_000780
185	231519	Disease	p.Thr282Met	106165.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106165	RENAL TUBULAR DYSGENESIS	OMIM	410	pfam00001	14043064,NP_114038|6715583,NP_033611|14043062,NP_004826|14043066,NP_114438|4501997,NP_000676
185	231519	Disease	p.Thr282Met	106165.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106165	RENAL TUBULAR DYSGENESIS	OMIM	410	pfam00001	14043064,NP_114038|6715583,NP_033611|14043062,NP_004826|14043066,NP_114438|4501997,NP_000676
185	231519	Disease	p.Thr282Met	106165.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106165	RENAL TUBULAR DYSGENESIS	OMIM	410	pfam00001	14043064,NP_114038|6715583,NP_033611|14043062,NP_004826|14043066,NP_114438|4501997,NP_000676
185	231519	Disease	p.Thr282Met	106165.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106165	RENAL TUBULAR DYSGENESIS	OMIM	410	pfam00001	14043064,NP_114038|6715583,NP_033611|14043062,NP_004826|14043066,NP_114438|4501997,NP_000676
185	231519	Disease	p.Thr282Met	106165.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106165	RENAL TUBULAR DYSGENESIS	OMIM	410	pfam00001	14043064,NP_114038|6715583,NP_033611|14043062,NP_004826|14043066,NP_114438|4501997,NP_000676
189	134855	Disease	p.Met235Thr	106150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106150	HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO||PREECLAMPSIA, SUSCEPTIBILITY TO||IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO	OMIM	322	COG0520	4557289,NP_000021
189	134855	Disease	p.Met235Thr	106150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106150	HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO||PREECLAMPSIA, SUSCEPTIBILITY TO||IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO	OMIM	267	cd06453	4557289,NP_000021
189	134855	Disease	p.Met235Thr	106150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106150	HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO||PREECLAMPSIA, SUSCEPTIBILITY TO||IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO	OMIM	225	cd06451	4557289,NP_000021
189	134855	Disease	p.Met235Thr	106150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106150	HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO||PREECLAMPSIA, SUSCEPTIBILITY TO||IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO	OMIM	248	pfam00266	4557289,NP_000021
189	134855	Disease	p.Met235Thr	106150.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106150	HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO||PREECLAMPSIA, SUSCEPTIBILITY TO||IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO	OMIM	251	COG0075	4557289,NP_000021
189	134855	Disease	p.Arg375Gln	106150.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106150	RENAL TUBULAR DYSGENESIS	OMIM	571	COG0520	4557289,NP_000021
189	134855	Disease	p.Arg375Gln	106150.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106150	RENAL TUBULAR DYSGENESIS	OMIM	405	cd06453	4557289,NP_000021
189	134855	Disease	p.Arg375Gln	106150.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106150	RENAL TUBULAR DYSGENESIS	OMIM	371	cd06451	4557289,NP_000021
189	134855	Disease	p.Arg375Gln	106150.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106150	RENAL TUBULAR DYSGENESIS	OMIM	425	pfam00266	4557289,NP_000021
189	134855	Disease	p.Arg375Gln	106150.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106150	RENAL TUBULAR DYSGENESIS	OMIM	415	COG0075	4557289,NP_000021
283	4557313	Disease	p.Gln12Leu	105850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	No Domain	N/A	NULL
283	148277046	Disease	p.Gln12Leu	105850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	No Domain	N/A	NULL
283	4557313	Disease	p.Lys17Ile	105850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	No Domain	N/A	NULL
283	148277046	Disease	p.Lys17Ile	105850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	No Domain	N/A	NULL
283	4557313	Disease	p.Lys17Glu	105850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	No Domain	N/A	NULL
283	148277046	Disease	p.Lys17Glu	105850.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	No Domain	N/A	NULL
283	4557313	Disease	p.Arg31Lys	105850.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	5	pfam00074	NULL
283	4557313	Disease	p.Arg31Lys	105850.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	4	cd06265	NULL
283	4557313	Disease	p.Arg31Lys	105850.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	4	cd00163	NULL
283	4557313	Disease	p.Arg31Lys	105850.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	6	smart00092	NULL
283	148277046	Disease	p.Arg31Lys	105850.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	5	pfam00074	NULL
283	148277046	Disease	p.Arg31Lys	105850.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	4	cd06265	NULL
283	148277046	Disease	p.Arg31Lys	105850.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	4	cd00163	NULL
283	148277046	Disease	p.Arg31Lys	105850.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	6	smart00092	NULL
283	4557313	Disease	p.Cys39Trp	105850.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	23	pfam00074	NULL
283	4557313	Disease	p.Cys39Trp	105850.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	12	cd06265	NULL
283	4557313	Disease	p.Cys39Trp	105850.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	12	cd00163	NULL
283	4557313	Disease	p.Cys39Trp	105850.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	14	smart00092	NULL
283	148277046	Disease	p.Cys39Trp	105850.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	23	pfam00074	NULL
283	148277046	Disease	p.Cys39Trp	105850.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	12	cd06265	NULL
283	148277046	Disease	p.Cys39Trp	105850.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	12	cd00163	NULL
283	148277046	Disease	p.Cys39Trp	105850.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	14	smart00092	NULL
283	4557313	Disease	p.Lys40Ile	105850.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	24	pfam00074	NULL
283	4557313	Disease	p.Lys40Ile	105850.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	13	cd06265	NULL
283	4557313	Disease	p.Lys40Ile	105850.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	13	cd00163	NULL
283	4557313	Disease	p.Lys40Ile	105850.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	15	smart00092	NULL
283	148277046	Disease	p.Lys40Ile	105850.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	24	pfam00074	NULL
283	148277046	Disease	p.Lys40Ile	105850.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	13	cd06265	NULL
283	148277046	Disease	p.Lys40Ile	105850.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	13	cd00163	NULL
283	148277046	Disease	p.Lys40Ile	105850.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	15	smart00092	NULL
283	4557313	Disease	p.Ile46Val	105850.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	33	pfam00074	NULL
283	4557313	Disease	p.Ile46Val	105850.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	19	cd06265	NULL
283	4557313	Disease	p.Ile46Val	105850.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	25	cd00163	NULL
283	4557313	Disease	p.Ile46Val	105850.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	23	smart00092	NULL
283	148277046	Disease	p.Ile46Val	105850.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	33	pfam00074	NULL
283	148277046	Disease	p.Ile46Val	105850.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	19	cd06265	NULL
283	148277046	Disease	p.Ile46Val	105850.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	25	cd00163	NULL
283	148277046	Disease	p.Ile46Val	105850.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	23	smart00092	NULL
283	4557313	Disease	p.Ser28Asn	105850.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	2	pfam00074	NULL
283	4557313	Disease	p.Ser28Asn	105850.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	3	smart00092	NULL
283	148277046	Disease	p.Ser28Asn	105850.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	2	pfam00074	NULL
283	148277046	Disease	p.Ser28Asn	105850.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	3	smart00092	NULL
283	4557313	Disease	p.Pro112Leu	105850.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	121	pfam00074	NULL
283	4557313	Disease	p.Pro112Leu	105850.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	160	cd06265	NULL
283	4557313	Disease	p.Pro112Leu	105850.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	101	cd00163	NULL
283	4557313	Disease	p.Pro112Leu	105850.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	111	smart00092	NULL
283	148277046	Disease	p.Pro112Leu	105850.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	121	pfam00074	NULL
283	148277046	Disease	p.Pro112Leu	105850.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	160	cd06265	NULL
283	148277046	Disease	p.Pro112Leu	105850.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	101	cd00163	NULL
283	148277046	Disease	p.Pro112Leu	105850.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	111	smart00092	NULL
283	4557313	Disease	p.Val113Ile	105850.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	124	pfam00074	NULL
283	4557313	Disease	p.Val113Ile	105850.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	161	cd06265	NULL
283	4557313	Disease	p.Val113Ile	105850.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	102	cd00163	NULL
283	4557313	Disease	p.Val113Ile	105850.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	113	smart00092	NULL
283	148277046	Disease	p.Val113Ile	105850.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	124	pfam00074	NULL
283	148277046	Disease	p.Val113Ile	105850.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	161	cd06265	NULL
283	148277046	Disease	p.Val113Ile	105850.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	102	cd00163	NULL
283	148277046	Disease	p.Val113Ile	105850.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105850	AMYOTROPHIC LATERAL SCLEROSIS 9	OMIM	113	smart00092	NULL
351	41406057	Disease	p.Glu693Gln	104760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT	OMIM	No Domain	N/A	NULL
351	209915570	Disease	p.Glu693Gln	104760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT	OMIM	No Domain	N/A	NULL
351	41406055	Disease	p.Glu693Gln	104760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT	OMIM	38	pfam03494	NULL
351	112927	Disease	p.Glu693Gln	104760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT	OMIM	19	pfam03494	4502167,NP_000475
351	209915573	Disease	p.Glu693Gln	104760.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT	OMIM	44	pfam10515	NULL
351	41406057	Disease	p.Val717Ile	104760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	209915570	Disease	p.Val717Ile	104760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	41406055	Disease	p.Val717Ile	104760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	25	pfam10515	NULL
351	112927	Disease	p.Val717Ile	104760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	4	pfam10515	4502167,NP_000475
351	209915573	Disease	p.Val717Ile	104760.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	41406057	Disease	p.Val717Phe	104760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	209915570	Disease	p.Val717Phe	104760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	41406055	Disease	p.Val717Phe	104760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	25	pfam10515	NULL
351	112927	Disease	p.Val717Phe	104760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	4	pfam10515	4502167,NP_000475
351	209915573	Disease	p.Val717Phe	104760.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	41406057	Disease	p.Val717Gly	104760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	209915570	Disease	p.Val717Gly	104760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	41406055	Disease	p.Val717Gly	104760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	25	pfam10515	NULL
351	112927	Disease	p.Val717Gly	104760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	4	pfam10515	4502167,NP_000475
351	209915573	Disease	p.Val717Gly	104760.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	41406057	Disease	p.Ala692Gly	104760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT||ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	209915570	Disease	p.Ala692Gly	104760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT||ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	41406055	Disease	p.Ala692Gly	104760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT||ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	37	pfam03494	NULL
351	112927	Disease	p.Ala692Gly	104760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT||ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	18	pfam03494	4502167,NP_000475
351	209915573	Disease	p.Ala692Gly	104760.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT||ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	43	pfam10515	NULL
79742	193804856	Disease	p.Ala692Gly	104760.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	REMOVED FROM DATABASE	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Ala692Gly	104760.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	REMOVED FROM DATABASE	OMIM	No Domain	N/A	193804854,NP_789789
351	41406057	Disease	p.Lys670Asn	104760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	40	pfam10515	NULL
351	209915570	Disease	p.Lys670Asn	104760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	41406055	Disease	p.Lys670Asn	104760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	15	pfam03494	NULL
351	112927	Disease	p.Lys670Asn	104760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	4502167,NP_000475
351	209915573	Disease	p.Lys670Asn	104760.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	14	pfam10515	NULL
351	41406057	Disease	p.Ala713Thr	104760.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	209915570	Disease	p.Ala713Thr	104760.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	41406055	Disease	p.Ala713Thr	104760.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	20	pfam10515	NULL
351	112927	Disease	p.Ala713Thr	104760.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	4502167,NP_000475
351	209915573	Disease	p.Ala713Thr	104760.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	41406057	Disease	p.Glu665Asp	104760.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	29	pfam10515	NULL
351	209915570	Disease	p.Glu665Asp	104760.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	41406055	Disease	p.Glu665Asp	104760.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	10	pfam03494	NULL
351	112927	Disease	p.Glu665Asp	104760.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	4502167,NP_000475
351	209915573	Disease	p.Glu665Asp	104760.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	8	pfam10515	NULL
351	41406057	Disease	p.Ile716Val	104760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	209915570	Disease	p.Ile716Val	104760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	41406055	Disease	p.Ile716Val	104760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	24	pfam10515	NULL
351	112927	Disease	p.Ile716Val	104760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	3	pfam10515	4502167,NP_000475
351	209915573	Disease	p.Ile716Val	104760.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	41406057	Disease	p.Val715Met	104760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	209915570	Disease	p.Val715Met	104760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	41406055	Disease	p.Val715Met	104760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	23	pfam10515	NULL
351	112927	Disease	p.Val715Met	104760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	2	pfam10515	4502167,NP_000475
351	209915573	Disease	p.Val715Met	104760.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	41406057	Disease	p.Glu693Gly	104760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1||CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT	OMIM	No Domain	N/A	NULL
351	209915570	Disease	p.Glu693Gly	104760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1||CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT	OMIM	No Domain	N/A	NULL
351	41406055	Disease	p.Glu693Gly	104760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1||CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT	OMIM	38	pfam03494	NULL
351	112927	Disease	p.Glu693Gly	104760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1||CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT	OMIM	19	pfam03494	4502167,NP_000475
351	209915573	Disease	p.Glu693Gly	104760.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1||CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT	OMIM	44	pfam10515	NULL
351	41406057	Disease	p.Glu693Lys	104760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT	OMIM	No Domain	N/A	NULL
351	209915570	Disease	p.Glu693Lys	104760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT	OMIM	No Domain	N/A	NULL
351	41406055	Disease	p.Glu693Lys	104760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT	OMIM	38	pfam03494	NULL
351	112927	Disease	p.Glu693Lys	104760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT	OMIM	19	pfam03494	4502167,NP_000475
351	209915573	Disease	p.Glu693Lys	104760.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT	OMIM	44	pfam10515	NULL
351	41406057	Disease	p.Thr714Ile	104760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	209915570	Disease	p.Thr714Ile	104760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	41406055	Disease	p.Thr714Ile	104760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	22	pfam10515	NULL
351	112927	Disease	p.Thr714Ile	104760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	4502167,NP_000475
351	209915573	Disease	p.Thr714Ile	104760.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	41406057	Disease	p.Asn694Asp	104760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT	OMIM	No Domain	N/A	NULL
351	209915570	Disease	p.Asn694Asp	104760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT	OMIM	No Domain	N/A	NULL
351	41406055	Disease	p.Asn694Asp	104760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT	OMIM	No Domain	N/A	NULL
351	112927	Disease	p.Asn694Asp	104760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT	OMIM	20	pfam03494	4502167,NP_000475
351	209915573	Disease	p.Asn694Asp	104760.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT	OMIM	45	pfam10515	NULL
351	41406057	Disease	p.Thr714Ala	104760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	209915570	Disease	p.Thr714Ala	104760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	41406055	Disease	p.Thr714Ala	104760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	22	pfam10515	NULL
351	112927	Disease	p.Thr714Ala	104760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	4502167,NP_000475
351	209915573	Disease	p.Thr714Ala	104760.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
79742	193804856	Disease	p.Thr714Ala	104760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	MOVED TO 104760.0008	OMIM	No Domain	N/A	NULL
79742	212276509	Disease	p.Thr714Ala	104760.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	MOVED TO 104760.0008	OMIM	No Domain	N/A	193804854,NP_789789
351	41406057	Disease	p.Leu705Val	104760.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT	OMIM	No Domain	N/A	NULL
351	209915570	Disease	p.Leu705Val	104760.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT	OMIM	No Domain	N/A	NULL
351	41406055	Disease	p.Leu705Val	104760.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT	OMIM	11	pfam10515	NULL
351	112927	Disease	p.Leu705Val	104760.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT	OMIM	31	pfam03494	4502167,NP_000475
351	209915573	Disease	p.Leu705Val	104760.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT	OMIM	56	pfam10515	NULL
351	41406057	Disease	p.Val717Leu	104760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	209915570	Disease	p.Val717Leu	104760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	41406055	Disease	p.Val717Leu	104760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	25	pfam10515	NULL
351	112927	Disease	p.Val717Leu	104760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	4	pfam10515	4502167,NP_000475
351	209915573	Disease	p.Val717Leu	104760.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	ALZHEIMER DISEASE, FAMILIAL, 1	OMIM	No Domain	N/A	NULL
351	41406057	Disease	p.Ala673Val	104760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	DEMENTIA, EARLY-ONSET PROGRESSIVE, AUTOSOMAL RECESSIVE	OMIM	43	pfam10515	NULL
351	209915570	Disease	p.Ala673Val	104760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	DEMENTIA, EARLY-ONSET PROGRESSIVE, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	NULL
351	41406055	Disease	p.Ala673Val	104760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	DEMENTIA, EARLY-ONSET PROGRESSIVE, AUTOSOMAL RECESSIVE	OMIM	18	pfam03494	NULL
351	112927	Disease	p.Ala673Val	104760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	DEMENTIA, EARLY-ONSET PROGRESSIVE, AUTOSOMAL RECESSIVE	OMIM	No Domain	N/A	4502167,NP_000475
351	209915573	Disease	p.Ala673Val	104760.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104760	DEMENTIA, EARLY-ONSET PROGRESSIVE, AUTOSOMAL RECESSIVE	OMIM	17	pfam10515	NULL
6288	40316910	Disease	p.Gly72Asp	104750.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104750	SERUM AMYLOID A VARIANT	OMIM	52	smart00197	NULL
6288	40316910	Disease	p.Gly72Asp	104750.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104750	SERUM AMYLOID A VARIANT	OMIM	52	pfam00277	NULL
6288	40316912	Disease	p.Gly72Asp	104750.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104750	SERUM AMYLOID A VARIANT	OMIM	52	smart00197	NULL
6288	40316912	Disease	p.Gly72Asp	104750.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104750	SERUM AMYLOID A VARIANT	OMIM	52	pfam00277	NULL
6288	295821193	Disease	p.Gly72Asp	104750.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104750	SERUM AMYLOID A VARIANT	OMIM	52	smart00197	NULL
6288	295821193	Disease	p.Gly72Asp	104750.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104750	SERUM AMYLOID A VARIANT	OMIM	52	pfam00277	NULL
6288	40316910	Disease	p.Val52Ala	104750.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104750	SERUM AMYLOID A VARIANT	OMIM	32	smart00197	NULL
6288	40316910	Disease	p.Val52Ala	104750.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104750	SERUM AMYLOID A VARIANT	OMIM	32	pfam00277	NULL
6288	40316912	Disease	p.Val52Ala	104750.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104750	SERUM AMYLOID A VARIANT	OMIM	32	smart00197	NULL
6288	40316912	Disease	p.Val52Ala	104750.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104750	SERUM AMYLOID A VARIANT	OMIM	32	pfam00277	NULL
6288	295821193	Disease	p.Val52Ala	104750.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104750	SERUM AMYLOID A VARIANT	OMIM	32	smart00197	NULL
6288	295821193	Disease	p.Val52Ala	104750.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104750	SERUM AMYLOID A VARIANT	OMIM	32	pfam00277	NULL
95	461466	Disease	p.Arg353Cys	104620.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104620	AMINOACYLASE 1 DEFICIENCY	OMIM	620	COG0624	4501901,NP_000657
95	461466	Disease	p.Arg353Cys	104620.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104620	AMINOACYLASE 1 DEFICIENCY	OMIM	601	pfam01546	4501901,NP_000657
95	461466	Disease	p.Glu233Asp	104620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104620	AMINOACYLASE 1 DEFICIENCY	OMIM	389	COG0624	4501901,NP_000657
95	461466	Disease	p.Glu233Asp	104620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104620	AMINOACYLASE 1 DEFICIENCY	OMIM	86	pfam07687	4501901,NP_000657
95	461466	Disease	p.Glu233Asp	104620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104620	AMINOACYLASE 1 DEFICIENCY	OMIM	316	pfam01546	4501901,NP_000657
95	461466	Disease	p.Arg197Trp	104620.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104620	AMINOACYLASE 1 DEFICIENCY	OMIM	344	COG0624	4501901,NP_000657
95	461466	Disease	p.Arg197Trp	104620.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104620	AMINOACYLASE 1 DEFICIENCY	OMIM	10	pfam07687	4501901,NP_000657
95	461466	Disease	p.Arg197Trp	104620.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104620	AMINOACYLASE 1 DEFICIENCY	OMIM	280	pfam01546	4501901,NP_000657
95	461466	Disease	p.Arg393His	104620.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104620	AMINOACYLASE 1 DEFICIENCY	OMIM	672	COG0624	4501901,NP_000657
95	461466	Disease	p.Arg393His	104620.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104620	AMINOACYLASE 1 DEFICIENCY	OMIM	663	pfam01546	4501901,NP_000657
6519	67472674	Disease	p.Met467Thr	104614.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104614	CYSTINURIA	OMIM	619	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Met467Thr	104614.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104614	CYSTINURIA	OMIM	447	pfam00128	187423904,NP_000332
6519	67472674	Disease	p.Met467Thr	104614.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104614	CYSTINURIA	OMIM	567	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Met467Lys	104614.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104614	CYSTINURIA	OMIM	619	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Met467Lys	104614.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104614	CYSTINURIA	OMIM	447	pfam00128	187423904,NP_000332
6519	67472674	Disease	p.Met467Lys	104614.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104614	CYSTINURIA	OMIM	567	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Leu678Pro	104614.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104614	CYSTINURIA	OMIM	No Domain	N/A	187423904,NP_000332
6519	67472674	Disease	p.Arg181Gln	104614.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104614	CYSTINURIA	OMIM	126	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Arg181Gln	104614.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104614	CYSTINURIA	OMIM	66	pfam00128	187423904,NP_000332
6519	67472674	Disease	p.Arg181Gln	104614.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104614	CYSTINURIA	OMIM	132	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Thr652Arg	104614.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104614	CYSTINURIA	OMIM	No Domain	N/A	187423904,NP_000332
6519	67472674	Disease	p.Pro615Thr	104614.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104614	CYSTINURIA	OMIM	823	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Arg362His	104614.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104614	CYSTINURIA	OMIM	451	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Arg362His	104614.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104614	CYSTINURIA	OMIM	308	pfam00128	187423904,NP_000332
6519	67472674	Disease	p.Arg362His	104614.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104614	CYSTINURIA	OMIM	390	COG0366	187423904,NP_000332
5663	1709856	Disease	p.Met146Leu	104311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	17	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Met146Leu	104311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	78	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Met146Leu	104311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	82	pfam01080	NULL
5663	195947397	Disease	p.Met146Leu	104311.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	21	smart00730	NULL
5663	1709856	Disease	p.His163Arg	104311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	115	smart00730	4506163,NP_000012
5663	1709856	Disease	p.His163Arg	104311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	95	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.His163Arg	104311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	99	pfam01080	NULL
5663	195947397	Disease	p.His163Arg	104311.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	119	smart00730	NULL
5663	1709856	Disease	p.Ala246Glu	104311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	254	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Ala246Glu	104311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	185	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Ala246Glu	104311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	189	pfam01080	NULL
5663	195947397	Disease	p.Ala246Glu	104311.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	258	smart00730	NULL
5663	1709856	Disease	p.Leu286Val	104311.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	322	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Leu286Val	104311.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	225	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Leu286Val	104311.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	229	pfam01080	NULL
5663	195947397	Disease	p.Leu286Val	104311.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	334	smart00730	NULL
5663	1709856	Disease	p.Cys410Tyr	104311.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	672	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Cys410Tyr	104311.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	432	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Cys410Tyr	104311.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	436	pfam01080	NULL
5663	195947397	Disease	p.Cys410Tyr	104311.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	676	smart00730	NULL
5663	1709856	Disease	p.Met139Val	104311.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	10	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Met139Val	104311.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	71	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Met139Val	104311.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	75	pfam01080	NULL
5663	195947397	Disease	p.Met139Val	104311.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	14	smart00730	NULL
5663	1709856	Disease	p.Met146Val	104311.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	17	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Met146Val	104311.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	78	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Met146Val	104311.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	82	pfam01080	NULL
5663	195947397	Disease	p.Met146Val	104311.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	21	smart00730	NULL
5663	1709856	Disease	p.His163Tyr	104311.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	115	smart00730	4506163,NP_000012
5663	1709856	Disease	p.His163Tyr	104311.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	95	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.His163Tyr	104311.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	99	pfam01080	NULL
5663	195947397	Disease	p.His163Tyr	104311.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	119	smart00730	NULL
5663	1709856	Disease	p.Glu280Ala	104311.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	292	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Glu280Ala	104311.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	219	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Glu280Ala	104311.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	223	pfam01080	NULL
5663	195947397	Disease	p.Glu280Ala	104311.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	320	smart00730	NULL
5663	1709856	Disease	p.Glu280Gly	104311.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3||ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES	OMIM	292	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Glu280Gly	104311.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3||ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES	OMIM	219	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Glu280Gly	104311.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3||ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES	OMIM	223	pfam01080	NULL
5663	195947397	Disease	p.Glu280Gly	104311.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3||ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES	OMIM	320	smart00730	NULL
5663	1709856	Disease	p.Pro267Ser	104311.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	279	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Pro267Ser	104311.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	206	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Pro267Ser	104311.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	210	pfam01080	NULL
5663	195947397	Disease	p.Pro267Ser	104311.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	283	smart00730	NULL
5663	1709856	Disease	p.Glu120Asp	104311.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	52	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Glu120Asp	104311.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	56	pfam01080	NULL
5663	1709856	Disease	p.Ala426Pro	104311.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	688	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Ala426Pro	104311.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	448	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Ala426Pro	104311.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	452	pfam01080	NULL
5663	195947397	Disease	p.Ala426Pro	104311.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	693	smart00730	NULL
5663	1709856	Disease	p.Met146Ile	104311.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	17	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Met146Ile	104311.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	78	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Met146Ile	104311.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	82	pfam01080	NULL
5663	195947397	Disease	p.Met146Ile	104311.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	21	smart00730	NULL
5663	1709856	Disease	p.Leu250Ser	104311.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	258	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Leu250Ser	104311.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	189	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Leu250Ser	104311.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	193	pfam01080	NULL
5663	195947397	Disease	p.Leu250Ser	104311.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	262	smart00730	NULL
5663	1709856	Disease	p.Arg278Thr	104311.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES	OMIM	290	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Arg278Thr	104311.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES	OMIM	217	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Arg278Thr	104311.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES	OMIM	221	pfam01080	NULL
5663	195947397	Disease	p.Arg278Thr	104311.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES	OMIM	318	smart00730	NULL
5663	1709856	Disease	p.Cys92Ser	104311.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	23	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Cys92Ser	104311.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	27	pfam01080	NULL
5663	1709856	Disease	p.Gly206Ala	104311.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	210	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Gly206Ala	104311.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	145	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Gly206Ala	104311.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	149	pfam01080	NULL
5663	195947397	Disease	p.Gly206Ala	104311.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	214	smart00730	NULL
5663	1709856	Disease	p.Gly266Ser	104311.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA	OMIM	274	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Gly266Ser	104311.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA	OMIM	205	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Gly266Ser	104311.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA	OMIM	209	pfam01080	NULL
5663	195947397	Disease	p.Gly266Ser	104311.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA	OMIM	282	smart00730	NULL
5663	1709856	Disease	p.Leu113Pro	104311.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	DEMENTIA, FRONTOTEMPORAL	OMIM	45	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Leu113Pro	104311.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	DEMENTIA, FRONTOTEMPORAL	OMIM	49	pfam01080	NULL
5663	1709856	Disease	p.Leu166Pro	104311.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	118	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Leu166Pro	104311.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	98	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Leu166Pro	104311.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	102	pfam01080	NULL
5663	195947397	Disease	p.Leu166Pro	104311.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	122	smart00730	NULL
5663	1709856	Disease	p.Leu174Met	104311.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	126	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Leu174Met	104311.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	106	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Leu174Met	104311.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	110	pfam01080	NULL
5663	195947397	Disease	p.Leu174Met	104311.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	130	smart00730	NULL
5663	1709856	Disease	p.Leu271Val	104311.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES	OMIM	283	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Leu271Val	104311.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES	OMIM	210	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Leu271Val	104311.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES	OMIM	214	pfam01080	NULL
5663	195947397	Disease	p.Leu271Val	104311.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES	OMIM	287	smart00730	NULL
5663	1709856	Disease	p.Gly183Val	104311.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	PICK DISEASE OF BRAIN	OMIM	135	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Gly183Val	104311.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	PICK DISEASE OF BRAIN	OMIM	115	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Gly183Val	104311.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	PICK DISEASE OF BRAIN	OMIM	119	pfam01080	NULL
5663	195947397	Disease	p.Gly183Val	104311.0027	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	PICK DISEASE OF BRAIN	OMIM	139	smart00730	NULL
5663	1709856	Disease	p.Pro436Gln	104311.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	702	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Pro436Gln	104311.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	458	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Pro436Gln	104311.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	462	pfam01080	NULL
5663	195947397	Disease	p.Pro436Gln	104311.0028	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	706	smart00730	NULL
5663	1709856	Disease	p.Arg278Ile	104311.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	290	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Arg278Ile	104311.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	217	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Arg278Ile	104311.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	221	pfam01080	NULL
5663	195947397	Disease	p.Arg278Ile	104311.0030	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	318	smart00730	NULL
5663	1709856	Disease	p.Leu85Pro	104311.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA	OMIM	16	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Leu85Pro	104311.0031	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA	OMIM	20	pfam01080	NULL
5663	1709856	Disease	p.Ala431Glu	104311.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	697	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Ala431Glu	104311.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	453	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Ala431Glu	104311.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	457	pfam01080	NULL
5663	195947397	Disease	p.Ala431Glu	104311.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	701	smart00730	NULL
5663	1709856	Disease	p.Asp333Gly	104311.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	CARDIOMYOPATHY, DILATED, 1U	OMIM	402	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Asp333Gly	104311.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	CARDIOMYOPATHY, DILATED, 1U	OMIM	317	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Asp333Gly	104311.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	CARDIOMYOPATHY, DILATED, 1U	OMIM	321	pfam01080	NULL
5663	195947397	Disease	p.Asp333Gly	104311.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	CARDIOMYOPATHY, DILATED, 1U	OMIM	461	smart00730	NULL
5663	1709856	Disease	p.Ala79Val	104311.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	10	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Ala79Val	104311.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	14	pfam01080	NULL
5663	1709856	Disease	p.Ser170Phe	104311.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	122	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Ser170Phe	104311.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	102	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Ser170Phe	104311.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	106	pfam01080	NULL
5663	195947397	Disease	p.Ser170Phe	104311.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3	OMIM	126	smart00730	NULL
5663	1709856	Disease	p.Gly217Arg	104311.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES	OMIM	221	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Gly217Arg	104311.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES	OMIM	156	pfam01080	4506163,NP_000012
5663	195947397	Disease	p.Gly217Arg	104311.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES	OMIM	160	pfam01080	NULL
5663	195947397	Disease	p.Gly217Arg	104311.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104311	ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES	OMIM	226	smart00730	NULL
4668	127801	Disease	p.Glu325Lys	104170.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104170	SCHINDLER DISEASE, TYPE I	OMIM	406	pfam02065	4557781,NP_000253
4668	127801	Disease	p.Arg329Trp	104170.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104170	KANZAKI DISEASE	OMIM	411	pfam02065	4557781,NP_000253
4668	127801	Disease	p.Ser160Cys	104170.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104170	SCHINDLER DISEASE, TYPE III	OMIM	226	pfam02065	4557781,NP_000253
4668	127801	Disease	p.Arg329Gln	104170.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104170	KANZAKI DISEASE	OMIM	411	pfam02065	4557781,NP_000253
2	66932947	Disease	p.Val1000Ile	103950.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103950	ALPHA-2-MACROGLOBULIN POLYMORPHISM||ALZHEIMER DISEASE, SUSCEPTIBILITY TO	OMIM	43	cd02897	NULL
2	66932947	Disease	p.Val1000Ile	103950.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103950	ALPHA-2-MACROGLOBULIN POLYMORPHISM||ALZHEIMER DISEASE, SUSCEPTIBILITY TO	OMIM	43	cd02896	NULL
2	66932947	Disease	p.Val1000Ile	103950.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103950	ALPHA-2-MACROGLOBULIN POLYMORPHISM||ALZHEIMER DISEASE, SUSCEPTIBILITY TO	OMIM	43	cd02891	NULL
2	66932947	Disease	p.Val1000Ile	103950.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103950	ALPHA-2-MACROGLOBULIN POLYMORPHISM||ALZHEIMER DISEASE, SUSCEPTIBILITY TO	OMIM	726	cd00688	NULL
2	66932947	Disease	p.Cys972Tyr	103950.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103950	ALPHA-2-MACROGLOBULIN POLYMORPHISM	OMIM	11	pfam10569	NULL
2	66932947	Disease	p.Cys972Tyr	103950.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103950	ALPHA-2-MACROGLOBULIN POLYMORPHISM	OMIM	15	cd02897	NULL
2	66932947	Disease	p.Cys972Tyr	103950.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103950	ALPHA-2-MACROGLOBULIN POLYMORPHISM	OMIM	15	cd02896	NULL
2	66932947	Disease	p.Cys972Tyr	103950.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103950	ALPHA-2-MACROGLOBULIN POLYMORPHISM	OMIM	15	cd02891	NULL
2	66932947	Disease	p.Cys972Tyr	103950.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103950	ALPHA-2-MACROGLOBULIN POLYMORPHISM	OMIM	538	cd00688	NULL
2	66932947	Disease	p.Arg681His	103950.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103950	ALPHA-2-MACROGLOBULIN POLYMORPHISM	OMIM	No Domain	N/A	NULL
226	4557305	Disease	p.Asp128Gly	103850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	126	cd00344	NULL
226	4557305	Disease	p.Asp128Gly	103850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	119	cd00948	NULL
226	4557305	Disease	p.Asp128Gly	103850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	128	COG3588	NULL
226	4557305	Disease	p.Asp128Gly	103850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	165	cd00945	NULL
226	4557305	Disease	p.Asp128Gly	103850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	154	pfam00274	NULL
226	113606	Disease	p.Asp128Gly	103850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	126	cd00344	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Asp128Gly	103850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	119	cd00948	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Asp128Gly	103850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	128	COG3588	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Asp128Gly	103850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	165	cd00945	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Asp128Gly	103850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	154	pfam00274	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Asp128Gly	103850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	126	cd00344	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Asp128Gly	103850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	119	cd00948	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Asp128Gly	103850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	128	COG3588	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Asp128Gly	103850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	165	cd00945	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Asp128Gly	103850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	154	pfam00274	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Asp128Gly	103850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	126	cd00344	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Asp128Gly	103850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	119	cd00948	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Asp128Gly	103850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	128	COG3588	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Asp128Gly	103850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	165	cd00945	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Asp128Gly	103850.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	154	pfam00274	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	4557305	Disease	p.Glu206Lys	103850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	204	cd00344	NULL
226	4557305	Disease	p.Glu206Lys	103850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	199	cd00948	NULL
226	4557305	Disease	p.Glu206Lys	103850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	211	COG3588	NULL
226	4557305	Disease	p.Glu206Lys	103850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	262	cd00945	NULL
226	4557305	Disease	p.Glu206Lys	103850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	239	pfam00274	NULL
226	113606	Disease	p.Glu206Lys	103850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	204	cd00344	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Glu206Lys	103850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	199	cd00948	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Glu206Lys	103850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	211	COG3588	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Glu206Lys	103850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	262	cd00945	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Glu206Lys	103850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	239	pfam00274	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Glu206Lys	103850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	204	cd00344	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Glu206Lys	103850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	199	cd00948	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Glu206Lys	103850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	211	COG3588	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Glu206Lys	103850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	262	cd00945	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Glu206Lys	103850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	239	pfam00274	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Glu206Lys	103850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	204	cd00344	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Glu206Lys	103850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	199	cd00948	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Glu206Lys	103850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	211	COG3588	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Glu206Lys	103850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	262	cd00945	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Glu206Lys	103850.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103850	GLYCOGEN STORAGE DISEASE XII	OMIM	239	pfam00274	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	389	cd05195	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	273	cd08245	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	261	cd08264	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	257	cd08287	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	310_G	cd08262	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	253	cd08253	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	417	COG1063	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	274	cd05286	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	251	cd05281	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	303	cd08265	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	275	cd08263	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	252	cd08296	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	258	cd08259	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	272	cd08266	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	301	COG1064	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	311	cd05288	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	293	cd08246	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	283	cd08273	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	288	cd08269	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	247	cd08250	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	257_G	cd08232	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	312	cd05282	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	419	cd08267	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	346	cd08284	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	299	cd08283	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	342	cd08276	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	357_G	cd05283	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	108	pfam00107	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	314	cd08255	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	219	cd08251	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	276	cd08299	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	376	cd05188	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	273	cd08256	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	453	cd05285	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	377	cd08282	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	337	cd08275	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	669	smart00829	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	291	COG1062	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	380	cd08278	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	291	cd08300	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	280	cd08301	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	289	cd08277	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	376	cd05289	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	268_G	cd08298	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	268	cd08236	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	320	cd08233	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	281	cd05278	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	276_G	cd08230	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	307	cd08231	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	269	cd08239	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	456	cd08249	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	261	cd08285	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	276	cd08260	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	354	cd08254	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	261	cd08261	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	358	COG0604	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	287	cd05284	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	369	cd08290	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	236	cd08272	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	278	cd08286	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	284	cd08240	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	352	cd08297	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	244	cd08268	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	307	cd05276	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	280_G	cd08241	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	266	cd08235	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	274_G	cd08281	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	295	cd08234	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	291	cd08279	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	284	cd05279	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	326	cd08271	4501933,NP_000660
126	113398	Disease	p.Arg272Gln	103730.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	266	cd08258	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	528	cd05195	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	349	cd08245	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	320	cd08264	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	386	cd08262	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	340	cd08253	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	556	COG1063	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	373	cd05286	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	328	cd05281	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	382	cd08265	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	353	cd08263	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	333	cd08296	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	335	cd08259	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	344	cd08266	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	381	COG1064	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	430	cd05288	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	377	cd08246	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	414	cd08273	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	380	cd08269	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	354	cd08250	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	332	cd08232	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	431	cd05282	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	545	cd08267	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	438	cd08284	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	415	cd08283	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	460	cd08276	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	459	cd05283	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	457	cd08255	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	291	cd08251	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	355	cd08299	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	494	cd05188	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	333	cd08256	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	588	cd05285	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	471	cd08282	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	452	cd08275	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	929	smart00829	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	373	COG1062	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	465	cd08278	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	371	cd08300	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	359	cd08301	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	370	cd08277	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	512	cd05289	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	348	cd08298	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	350	cd08236	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	401	cd08233	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	392	cd05278	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	361	cd08230	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	391	cd08231	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	347	cd08239	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	664	cd08249	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	346	cd08285	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	364	cd08260	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	449	cd08254	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	340	cd08261	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	487	COG0604	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	363	cd05284	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	478	cd08290	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	320	cd08272	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	353	cd08286	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	362	cd08240	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	444	cd08297	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	351	cd08268	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	416	cd05276	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	376	cd08241	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	349	cd08235	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	353	cd08281	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	371	cd08234	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	375	cd08279	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	365	cd05279	4501933,NP_000660
126	113398	Disease	p.Ile350Val	103730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103730	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	414	cd08271	4501933,NP_000660
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	565	cd05195	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	372	cd08245	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	340	cd08264	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	396	cd05286	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	352	cd05281	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	498	cd08282	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	371	cd08253	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	406	cd08262	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	354	cd08296	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	374	cd08263	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	357	cd08259	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	402	cd08265	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	370	cd08266	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	405	COG1064	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	403	cd08246	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	402	cd08269	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	378	cd08250	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	354	cd08232	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	577	cd08267	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	445	cd08283	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	460	cd08284	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	355	cd05280	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	455	cd05282	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	486	cd08276	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	485	cd05283	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	312	cd08251	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	484	cd08255	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	375	cd08299	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	354	cd08256	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	623	cd05285	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	473	cd08275	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	978	smart00829	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	393	COG1062	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	392	cd08300	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	392	cd08277	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	379	cd08301	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	486	cd08278	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	373	cd08236	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	545	cd05289	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	370	cd08298	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	387	cd05284	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	368	cd08285	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	362	cd08261	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	722	cd08249	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	387	cd08260	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	345	cd08272	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	585	COG1063	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	385	cd08240	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	367	cd08239	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	384	cd08230	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	512	COG0604	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	416	cd05278	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	412	cd08231	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	378	cd08286	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	372	cd08268	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	471	cd08254	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	520	cd08290	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	467	cd08297	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	373	cd08281	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	372	cd08235	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	385	cd05279	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	398	cd08241	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	394	cd08234	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	398	cd08279	NULL
125	34577061	Disease	p.Arg370Cys	103720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103720	ALCOHOL DEPENDENCE, PROTECTION AGAINST	OMIM	470	cd08271	NULL
213	113576	Disease	p.Asp1Val	103600.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN BREMEN||ALBUMIN BLENHEIM, ALBUMIN IOWA CITY 2	OMIM	No Domain	N/A	4502027,NP_000468
213	113576	Disease	p.His3Gln	103600.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN NAGASAKI 3	OMIM	No Domain	N/A	4502027,NP_000468
213	113576	Disease	p.Arg114Gly	103600.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN YANOMAMA 2	OMIM	89	pfam00273	4502027,NP_000468
213	113576	Disease	p.Arg114Gly	103600.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN YANOMAMA 2	OMIM	102	smart00103	4502027,NP_000468
213	113576	Disease	p.Arg114Gly	103600.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN YANOMAMA 2	OMIM	92	cd00015	4502027,NP_000468
213	113576	Disease	p.Glu119Lys	103600.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN NAGOYA	OMIM	94	pfam00273	4502027,NP_000468
213	113576	Disease	p.Glu119Lys	103600.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN NAGOYA	OMIM	108	smart00103	4502027,NP_000468
213	113576	Disease	p.Glu119Lys	103600.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN NAGOYA	OMIM	97	cd00015	4502027,NP_000468
213	113576	Disease	p.Asp269Gly	103600.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN NAGASAKI 1||ALBUMIN NIIGATA	OMIM	52	cd00015	4502027,NP_000468
213	113576	Disease	p.Asp269Gly	103600.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN NAGASAKI 1||ALBUMIN NIIGATA	OMIM	50	pfam00273	4502027,NP_000468
213	113576	Disease	p.Asp269Gly	103600.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN NAGASAKI 1||ALBUMIN NIIGATA	OMIM	58	smart00103	4502027,NP_000468
213	113576	Disease	p.Lys313Asn	103600.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN NEW GUINEA||ALBUMIN TAGLIACOZZO, ALBUMIN COOPERSTOWN	OMIM	103	cd00015	4502027,NP_000468
213	113576	Disease	p.Lys313Asn	103600.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN NEW GUINEA||ALBUMIN TAGLIACOZZO, ALBUMIN COOPERSTOWN	OMIM	101	pfam00273	4502027,NP_000468
213	113576	Disease	p.Lys313Asn	103600.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN NEW GUINEA||ALBUMIN TAGLIACOZZO, ALBUMIN COOPERSTOWN	OMIM	115	smart00103	4502027,NP_000468
213	113576	Disease	p.Ala320Thr	103600.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN REDHILL	OMIM	110	cd00015	4502027,NP_000468
213	113576	Disease	p.Ala320Thr	103600.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN REDHILL	OMIM	108	pfam00273	4502027,NP_000468
213	113576	Disease	p.Ala320Thr	103600.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN REDHILL	OMIM	122	smart00103	4502027,NP_000468
213	113576	Disease	p.Glu321Lys	103600.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN ROMA	OMIM	111	cd00015	4502027,NP_000468
213	113576	Disease	p.Glu321Lys	103600.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN ROMA	OMIM	109	pfam00273	4502027,NP_000468
213	113576	Disease	p.Glu321Lys	103600.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN ROMA	OMIM	123	smart00103	4502027,NP_000468
213	113576	Disease	p.Glu354Lys	103600.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN HIROSHIMA 1	OMIM	149	cd00015	4502027,NP_000468
213	113576	Disease	p.Glu354Lys	103600.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN HIROSHIMA 1	OMIM	144	pfam00273	4502027,NP_000468
213	113576	Disease	p.Glu354Lys	103600.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN HIROSHIMA 1	OMIM	176	smart00103	4502027,NP_000468
213	113576	Disease	p.Glu358Lys	103600.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN PORTO ALEGRE 1||ALBUMIN COARI 1	OMIM	153	cd00015	4502027,NP_000468
213	113576	Disease	p.Glu358Lys	103600.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN PORTO ALEGRE 1||ALBUMIN COARI 1	OMIM	148	pfam00273	4502027,NP_000468
213	113576	Disease	p.Glu358Lys	103600.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN PORTO ALEGRE 1||ALBUMIN COARI 1	OMIM	180	smart00103	4502027,NP_000468
213	113576	Disease	p.Asp365His	103600.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN PARKLANDS	OMIM	160	cd00015	4502027,NP_000468
213	113576	Disease	p.Asp365His	103600.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN PARKLANDS	OMIM	155	pfam00273	4502027,NP_000468
213	113576	Disease	p.Asp365His	103600.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN PARKLANDS	OMIM	187	smart00103	4502027,NP_000468
213	113576	Disease	p.Lys372Glu	103600.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MERSIN||ALBUMIN NASKAPI, ALBUMIN MEXICO 1	OMIM	167	cd00015	4502027,NP_000468
213	113576	Disease	p.Lys372Glu	103600.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MERSIN||ALBUMIN NASKAPI, ALBUMIN MEXICO 1	OMIM	162	pfam00273	4502027,NP_000468
213	113576	Disease	p.Lys372Glu	103600.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MERSIN||ALBUMIN NASKAPI, ALBUMIN MEXICO 1	OMIM	194	smart00103	4502027,NP_000468
213	113576	Disease	p.Asp375Asn	103600.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN NAGASAKI 2	OMIM	170	cd00015	4502027,NP_000468
213	113576	Disease	p.Asp375Asn	103600.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN NAGASAKI 2	OMIM	165	pfam00273	4502027,NP_000468
213	113576	Disease	p.Asp375Asn	103600.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN NAGASAKI 2	OMIM	197	smart00103	4502027,NP_000468
213	113576	Disease	p.Glu376Lys	103600.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN TOCHIGI	OMIM	171	cd00015	4502027,NP_000468
213	113576	Disease	p.Glu376Lys	103600.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN TOCHIGI	OMIM	166	pfam00273	4502027,NP_000468
213	113576	Disease	p.Glu376Lys	103600.0017	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN TOCHIGI	OMIM	198	smart00103	4502027,NP_000468
213	113576	Disease	p.Glu382Lys	103600.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN HIROSHIMA 2	OMIM	177	cd00015	4502027,NP_000468
213	113576	Disease	p.Glu382Lys	103600.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN HIROSHIMA 2	OMIM	172	pfam00273	4502027,NP_000468
213	113576	Disease	p.Glu382Lys	103600.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN HIROSHIMA 2	OMIM	204	smart00103	4502027,NP_000468
213	113576	Disease	p.Glu501Lys	103600.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN LAMBADI||ALBUMIN MANAUS-1, ALBUMIN VANCOUVER, ALBUMIN BIRMINGHAM, ALBUMIN ADANA, ALBUMIN PORTO ALEGRE 2	OMIM	90	pfam00273	4502027,NP_000468
213	113576	Disease	p.Glu501Lys	103600.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN LAMBADI||ALBUMIN MANAUS-1, ALBUMIN VANCOUVER, ALBUMIN BIRMINGHAM, ALBUMIN ADANA, ALBUMIN PORTO ALEGRE 2	OMIM	93	cd00015	4502027,NP_000468
213	113576	Disease	p.Glu501Lys	103600.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN LAMBADI||ALBUMIN MANAUS-1, ALBUMIN VANCOUVER, ALBUMIN BIRMINGHAM, ALBUMIN ADANA, ALBUMIN PORTO ALEGRE 2	OMIM	103	smart00103	4502027,NP_000468
213	113576	Disease	p.Lys541Glu	103600.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MAKU||ALBUMIN ORIXIMINA-1	OMIM	133	pfam00273	4502027,NP_000468
213	113576	Disease	p.Lys541Glu	103600.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MAKU||ALBUMIN ORIXIMINA-1	OMIM	138	cd00015	4502027,NP_000468
213	113576	Disease	p.Lys541Glu	103600.0020	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MAKU||ALBUMIN ORIXIMINA-1	OMIM	165	smart00103	4502027,NP_000468
213	113576	Disease	p.Asp550Gly	103600.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MEXICO 2	OMIM	142	pfam00273	4502027,NP_000468
213	113576	Disease	p.Asp550Gly	103600.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MEXICO 2	OMIM	147	cd00015	4502027,NP_000468
213	113576	Disease	p.Asp550Gly	103600.0021	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MEXICO 2	OMIM	174	smart00103	4502027,NP_000468
213	113576	Disease	p.Asp563Asn	103600.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN FUKUOKA 1	OMIM	155	pfam00273	4502027,NP_000468
213	113576	Disease	p.Asp563Asn	103600.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN FUKUOKA 1	OMIM	160	cd00015	4502027,NP_000468
213	113576	Disease	p.Asp563Asn	103600.0022	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN FUKUOKA 1	OMIM	187	smart00103	4502027,NP_000468
213	113576	Disease	p.Glu565Lys	103600.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN OSAKA 1	OMIM	157	pfam00273	4502027,NP_000468
213	113576	Disease	p.Glu565Lys	103600.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN OSAKA 1	OMIM	162	cd00015	4502027,NP_000468
213	113576	Disease	p.Glu565Lys	103600.0023	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN OSAKA 1	OMIM	189	smart00103	4502027,NP_000468
213	113576	Disease	p.Glu570Lys	103600.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN OSAKA 2||ALBUMIN PHNOM PENH, ALBUMIN B, ALBUMIN OLIPHANT, ALBUMIN NAGANO, ALBUMIN VERONA B	OMIM	162	pfam00273	4502027,NP_000468
213	113576	Disease	p.Glu570Lys	103600.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN OSAKA 2||ALBUMIN PHNOM PENH, ALBUMIN B, ALBUMIN OLIPHANT, ALBUMIN NAGANO, ALBUMIN VERONA B	OMIM	167	cd00015	4502027,NP_000468
213	113576	Disease	p.Glu570Lys	103600.0024	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN OSAKA 2||ALBUMIN PHNOM PENH, ALBUMIN B, ALBUMIN OLIPHANT, ALBUMIN NAGANO, ALBUMIN VERONA B	OMIM	194	smart00103	4502027,NP_000468
213	113576	Disease	p.Lys573Glu	103600.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN GHENT||ALBUMIN MILANO FAST	OMIM	165	pfam00273	4502027,NP_000468
213	113576	Disease	p.Lys573Glu	103600.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN GHENT||ALBUMIN MILANO FAST	OMIM	170	cd00015	4502027,NP_000468
213	113576	Disease	p.Lys573Glu	103600.0025	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN GHENT||ALBUMIN MILANO FAST	OMIM	197	smart00103	4502027,NP_000468
213	113576	Disease	p.Lys574Asn	103600.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN VANVES	OMIM	166	pfam00273	4502027,NP_000468
213	113576	Disease	p.Lys574Asn	103600.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN VANVES	OMIM	171	cd00015	4502027,NP_000468
213	113576	Disease	p.Lys574Asn	103600.0026	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN VANVES	OMIM	198	smart00103	4502027,NP_000468
213	113576	Disease	p.Lys536Glu	103600.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN CASTEL DI SANGRO	OMIM	128	pfam00273	4502027,NP_000468
213	113576	Disease	p.Lys536Glu	103600.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN CASTEL DI SANGRO	OMIM	133	cd00015	4502027,NP_000468
213	113576	Disease	p.Lys536Glu	103600.0029	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN CASTEL DI SANGRO	OMIM	160	smart00103	4502027,NP_000468
213	113576	Disease	p.Gln580Lys	103600.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN GE/CT||ALBUMIN CATANIA	OMIM	172	pfam00273	4502027,NP_000468
213	113576	Disease	p.Gln580Lys	103600.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN GE/CT||ALBUMIN CATANIA	OMIM	177	cd00015	4502027,NP_000468
213	113576	Disease	p.Gln580Lys	103600.0032	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN GE/CT||ALBUMIN CATANIA	OMIM	204	smart00103	4502027,NP_000468
213	113576	Disease	p.Glu60Lys	103600.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN TORINO	OMIM	33	pfam00273	4502027,NP_000468
213	113576	Disease	p.Glu60Lys	103600.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN TORINO	OMIM	41	smart00103	4502027,NP_000468
213	113576	Disease	p.Glu60Lys	103600.0033	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN TORINO	OMIM	35	cd00015	4502027,NP_000468
213	113576	Disease	p.Glu82Lys	103600.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN VIBO VALENTIA	OMIM	55	pfam00273	4502027,NP_000468
213	113576	Disease	p.Glu82Lys	103600.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN VIBO VALENTIA	OMIM	65	smart00103	4502027,NP_000468
213	113576	Disease	p.Glu82Lys	103600.0034	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN VIBO VALENTIA	OMIM	60	cd00015	4502027,NP_000468
213	113576	Disease	p.Asp494Asn	103600.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN CASEBROOK	OMIM	83	pfam00273	4502027,NP_000468
213	113576	Disease	p.Asp494Asn	103600.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN CASEBROOK	OMIM	86	cd00015	4502027,NP_000468
213	113576	Disease	p.Asp494Asn	103600.0035	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN CASEBROOK	OMIM	96	smart00103	4502027,NP_000468
213	113576	Disease	p.Asp365Val	103600.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN IOWA CITY 1	OMIM	160	cd00015	4502027,NP_000468
213	113576	Disease	p.Asp365Val	103600.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN IOWA CITY 1	OMIM	155	pfam00273	4502027,NP_000468
213	113576	Disease	p.Asp365Val	103600.0036	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN IOWA CITY 1	OMIM	187	smart00103	4502027,NP_000468
213	113576	Disease	p.His128Arg	103600.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN KOMAGOME 2	OMIM	104	pfam00273	4502027,NP_000468
213	113576	Disease	p.His128Arg	103600.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN KOMAGOME 2	OMIM	118	smart00103	4502027,NP_000468
213	113576	Disease	p.His128Arg	103600.0037	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN KOMAGOME 2	OMIM	106	cd00015	4502027,NP_000468
213	113576	Disease	p.Lys240Glu	103600.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN HERBORN	OMIM	23	cd00015	4502027,NP_000468
213	113576	Disease	p.Lys240Glu	103600.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN HERBORN	OMIM	21	pfam00273	4502027,NP_000468
213	113576	Disease	p.Lys240Glu	103600.0039	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN HERBORN	OMIM	29	smart00103	4502027,NP_000468
213	113576	Disease	p.Arg218His	103600.0041	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	DYSALBUMINEMIC HYPERTHYROXINEMIA	OMIM	7	smart00103	4502027,NP_000468
213	113576	Disease	p.His3Tyr	103600.0042	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN LARINO	OMIM	No Domain	N/A	4502027,NP_000468
213	113576	Disease	p.Lys225Gln	103600.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN TRADATE 2	OMIM	5	cd00015	4502027,NP_000468
213	113576	Disease	p.Lys225Gln	103600.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN TRADATE 2	OMIM	6	pfam00273	4502027,NP_000468
213	113576	Disease	p.Lys225Gln	103600.0043	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN TRADATE 2	OMIM	14	smart00103	4502027,NP_000468
213	113576	Disease	p.Lys276Asn	103600.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN CASERTA	OMIM	63	cd00015	4502027,NP_000468
213	113576	Disease	p.Lys276Asn	103600.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN CASERTA	OMIM	60	pfam00273	4502027,NP_000468
213	113576	Disease	p.Lys276Asn	103600.0044	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN CASERTA	OMIM	73	smart00103	4502027,NP_000468
213	113576	Disease	p.Tyr140Cys	103600.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN ASOLA	OMIM	117	pfam00273	4502027,NP_000468
213	113576	Disease	p.Tyr140Cys	103600.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN ASOLA	OMIM	151	smart00103	4502027,NP_000468
213	113576	Disease	p.Tyr140Cys	103600.0046	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN ASOLA	OMIM	127	cd00015	4502027,NP_000468
213	113576	Disease	p.Asp63Asn	103600.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MALMO 95	OMIM	36	pfam00273	4502027,NP_000468
213	113576	Disease	p.Asp63Asn	103600.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MALMO 95	OMIM	44	smart00103	4502027,NP_000468
213	113576	Disease	p.Asp63Asn	103600.0047	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MALMO 95	OMIM	38	cd00015	4502027,NP_000468
213	113576	Disease	p.Cys177Phe	103600.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN HAWKES BAY	OMIM	159	pfam00273	4502027,NP_000468
213	113576	Disease	p.Cys177Phe	103600.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN HAWKES BAY	OMIM	191	smart00103	4502027,NP_000468
213	113576	Disease	p.Cys177Phe	103600.0048	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN HAWKES BAY	OMIM	164	cd00015	4502027,NP_000468
213	113576	Disease	p.Gln268Arg	103600.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MALMO 10	OMIM	51	cd00015	4502027,NP_000468
213	113576	Disease	p.Gln268Arg	103600.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MALMO 10	OMIM	49	pfam00273	4502027,NP_000468
213	113576	Disease	p.Gln268Arg	103600.0049	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MALMO 10	OMIM	57	smart00103	4502027,NP_000468
213	113576	Disease	p.Asn318Lys	103600.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MALMO 47	OMIM	108	cd00015	4502027,NP_000468
213	113576	Disease	p.Asn318Lys	103600.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MALMO 47	OMIM	106	pfam00273	4502027,NP_000468
213	113576	Disease	p.Asn318Lys	103600.0050	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MALMO 47	OMIM	120	smart00103	4502027,NP_000468
213	113576	Disease	p.Glu333Lys	103600.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN SONDRIA	OMIM	128	cd00015	4502027,NP_000468
213	113576	Disease	p.Glu333Lys	103600.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN SONDRIA	OMIM	123	pfam00273	4502027,NP_000468
213	113576	Disease	p.Glu333Lys	103600.0051	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN SONDRIA	OMIM	155	smart00103	4502027,NP_000468
213	113576	Disease	p.Glu376Asn	103600.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MALMO 5	OMIM	171	cd00015	4502027,NP_000468
213	113576	Disease	p.Glu376Asn	103600.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MALMO 5	OMIM	166	pfam00273	4502027,NP_000468
213	113576	Disease	p.Glu376Asn	103600.0052	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN MALMO 5	OMIM	198	smart00103	4502027,NP_000468
213	113576	Disease	p.Glu479Lys	103600.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN DUBLIN	OMIM	68	pfam00273	4502027,NP_000468
213	113576	Disease	p.Glu479Lys	103600.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN DUBLIN	OMIM	71	cd00015	4502027,NP_000468
213	113576	Disease	p.Glu479Lys	103600.0053	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN DUBLIN	OMIM	81	smart00103	4502027,NP_000468
213	113576	Disease	p.Glu505Lys	103600.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN ORTONOVO	OMIM	94	pfam00273	4502027,NP_000468
213	113576	Disease	p.Glu505Lys	103600.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN ORTONOVO	OMIM	97	cd00015	4502027,NP_000468
213	113576	Disease	p.Glu505Lys	103600.0054	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	ALBUMIN ORTONOVO	OMIM	108	smart00103	4502027,NP_000468
213	113576	Disease	p.Arg218Pro	103600.0055	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	DYSALBUMINEMIC HYPERTHYROXINEMIA	OMIM	7	smart00103	4502027,NP_000468
213	113576	Disease	p.Leu66Pro	103600.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	DYSALBUMINEMIC HYPERTHYROXINEMIA	OMIM	39	pfam00273	4502027,NP_000468
213	113576	Disease	p.Leu66Pro	103600.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	DYSALBUMINEMIC HYPERTHYROXINEMIA	OMIM	47	smart00103	4502027,NP_000468
213	113576	Disease	p.Leu66Pro	103600.0056	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103600	DYSALBUMINEMIC HYPERTHYROXINEMIA	OMIM	41	cd00015	4502027,NP_000468
375790	114152771	Disease	p.Gly1709Arg	103320.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103320	MYASTHENIA, LIMB-GIRDLE, FAMILIAL	OMIM	117	cd00110	54873613,NP_940978
375790	114152771	Disease	p.Gly1709Arg	103320.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103320	MYASTHENIA, LIMB-GIRDLE, FAMILIAL	OMIM	158	smart00282	54873613,NP_940978
375790	114152771	Disease	p.Gly1709Arg	103320.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103320	MYASTHENIA, LIMB-GIRDLE, FAMILIAL	OMIM	52	pfam00054	54873613,NP_940978
375790	114152771	Disease	p.Gly1709Arg	103320.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103320	MYASTHENIA, LIMB-GIRDLE, FAMILIAL	OMIM	80	pfam02210	54873613,NP_940978
291	113455	Disease	p.Ala114Pro	103220.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103220	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2	OMIM	6	pfam00153	55749577,NP_001142
291	113455	Disease	p.Val289Met	103220.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103220	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2	OMIM	135	pfam00153	55749577,NP_001142
291	113455	Disease	p.Leu98Pro	103220.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103220	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2	OMIM	147	pfam00153	55749577,NP_001142
291	113455	Disease	p.Asp104Gly	103220.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103220	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2	OMIM	No Domain	N/A	55749577,NP_001142
291	113455	Disease	p.Ala123Asp	103220.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103220	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC	OMIM	15	pfam00153	55749577,NP_001142
204	7524346	Disease	p.Met1Val	103020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	No Domain	N/A	NULL
204	1708596	Disease	p.Met1Val	103020.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	No Domain	N/A	4502013,NP_001616
204	7524346	Disease	p.Asp165Gly	103020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	36	pfam05191	NULL
204	7524346	Disease	p.Asp165Gly	103020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	177	COG0563	NULL
204	7524346	Disease	p.Asp165Gly	103020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	233	cd02019	NULL
204	7524346	Disease	p.Asp165Gly	103020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	376	cd01428	NULL
204	7524346	Disease	p.Asp165Gly	103020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	150	pfam00406	NULL
204	1708596	Disease	p.Asp165Gly	103020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	36	pfam05191	4502013,NP_001616
204	1708596	Disease	p.Asp165Gly	103020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	177	COG0563	4502013,NP_001616
204	1708596	Disease	p.Asp165Gly	103020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	233	cd02019	4502013,NP_001616
204	1708596	Disease	p.Asp165Gly	103020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	376	cd01428	4502013,NP_001616
204	1708596	Disease	p.Asp165Gly	103020.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	150	pfam00406	4502013,NP_001616
204	7524346	Disease	p.Arg186Cys	103020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	198	COG0563	NULL
204	7524346	Disease	p.Arg186Cys	103020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	254	cd02019	NULL
204	7524346	Disease	p.Arg186Cys	103020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	409	cd01428	NULL
204	7524346	Disease	p.Arg186Cys	103020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	171	pfam00406	NULL
204	1708596	Disease	p.Arg186Cys	103020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	198	COG0563	4502013,NP_001616
204	1708596	Disease	p.Arg186Cys	103020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	254	cd02019	4502013,NP_001616
204	1708596	Disease	p.Arg186Cys	103020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	409	cd01428	4502013,NP_001616
204	1708596	Disease	p.Arg186Cys	103020.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	171	pfam00406	4502013,NP_001616
204	7524346	Disease	p.Arg103Trp	103020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	110	COG0563	NULL
204	7524346	Disease	p.Arg103Trp	103020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	149	cd02019	NULL
204	7524346	Disease	p.Arg103Trp	103020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	243	cd01428	NULL
204	7524346	Disease	p.Arg103Trp	103020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	87	pfam00406	NULL
204	1708596	Disease	p.Arg103Trp	103020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	110	COG0563	4502013,NP_001616
204	1708596	Disease	p.Arg103Trp	103020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	149	cd02019	4502013,NP_001616
204	1708596	Disease	p.Arg103Trp	103020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	243	cd01428	4502013,NP_001616
204	1708596	Disease	p.Arg103Trp	103020.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103020	RETICULAR DYSGENESIS	OMIM	87	pfam00406	4502013,NP_001616
203	20178288	Disease	p.Arg128Trp	103000.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	165	COG0125	4502011,NP_000467
203	20178288	Disease	p.Arg128Trp	103000.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	176	COG0237	4502011,NP_000467
203	20178288	Disease	p.Arg128Trp	103000.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	122	pfam00406	4502011,NP_000467
203	20178288	Disease	p.Arg128Trp	103000.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	326	cd01428	4502011,NP_000467
203	20178288	Disease	p.Arg128Trp	103000.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	206	cd02019	4502011,NP_000467
203	20178288	Disease	p.Arg128Trp	103000.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	149	COG0563	4502011,NP_000467
203	20178288	Disease	p.Arg128Trp	103000.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	201	cd01672	4502011,NP_000467
203	20178288	Disease	p.Tyr164Cys	103000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	209	COG0125	4502011,NP_000467
203	20178288	Disease	p.Tyr164Cys	103000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	240	COG0237	4502011,NP_000467
203	20178288	Disease	p.Tyr164Cys	103000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	186	pfam00406	4502011,NP_000467
203	20178288	Disease	p.Tyr164Cys	103000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	424	cd01428	4502011,NP_000467
203	20178288	Disease	p.Tyr164Cys	103000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	269	cd02019	4502011,NP_000467
203	20178288	Disease	p.Tyr164Cys	103000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	213	COG0563	4502011,NP_000467
203	20178288	Disease	p.Tyr164Cys	103000.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	243	cd01672	4502011,NP_000467
203	20178288	Disease	p.Gly40Arg	103000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	31	COG0125	4502011,NP_000467
203	20178288	Disease	p.Gly40Arg	103000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	34	COG0237	4502011,NP_000467
203	20178288	Disease	p.Gly40Arg	103000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	28	pfam00406	4502011,NP_000467
203	20178288	Disease	p.Gly40Arg	103000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	64	cd01428	4502011,NP_000467
203	20178288	Disease	p.Gly40Arg	103000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	51	cd02019	4502011,NP_000467
203	20178288	Disease	p.Gly40Arg	103000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	34	COG0563	4502011,NP_000467
203	20178288	Disease	p.Gly40Arg	103000.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	53	cd01672	4502011,NP_000467
203	20178288	Disease	p.Gly64Arg	103000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	69	COG0125	4502011,NP_000467
203	20178288	Disease	p.Gly64Arg	103000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	87	COG0237	4502011,NP_000467
203	20178288	Disease	p.Gly64Arg	103000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	53	pfam00406	4502011,NP_000467
203	20178288	Disease	p.Gly64Arg	103000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	143	cd01428	4502011,NP_000467
203	20178288	Disease	p.Gly64Arg	103000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	75	cd02019	4502011,NP_000467
203	20178288	Disease	p.Gly64Arg	103000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	63	COG0563	4502011,NP_000467
203	20178288	Disease	p.Gly64Arg	103000.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103000	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	OMIM	72	cd01672	4502011,NP_000467
272	399033	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	402	cd01319	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	302	pfam00962	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	231	COG1816	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	351	cd00443	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	355	cd01292	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	402	cd01319	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	302	pfam00962	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	231	COG1816	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	351	cd00443	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	355	cd01292	289063415,NP_001165901|70906426,NP_001020560
272	4502079	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	277	pfam00962	NULL
272	4502079	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	342	cd00443	NULL
272	4502079	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	393	cd01319	NULL
272	4502079	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	346	cd01292	NULL
272	4502079	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	222	COG1816	NULL
272	70906428	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	279	pfam00962	NULL
272	70906428	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	224	COG1816	NULL
272	70906428	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	395	cd01319	NULL
272	70906428	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	348	cd01292	NULL
272	70906428	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	344	cd00443	NULL
272	289063417	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	470	COG1816	NULL
272	289063417	Disease	p.Arg573Cys	102772.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102772	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	OMIM	562	cd01319	NULL
270	289547498	Disease	p.Pro48Leu	102770.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	No Domain	N/A	NULL
270	289547500	Disease	p.Pro48Leu	102770.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	No Domain	N/A	NULL
270	289547498	Disease	p.Arg388Trp	102770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	201	cd01319	NULL
270	289547498	Disease	p.Arg388Trp	102770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	98	cd01292	NULL
270	289547498	Disease	p.Arg388Trp	102770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	6	COG1816	NULL
270	289547498	Disease	p.Arg388Trp	102770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	79	cd00443	NULL
270	289547498	Disease	p.Arg388Trp	102770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	64	pfam00962	NULL
270	289547500	Disease	p.Arg388Trp	102770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	2	COG1816	NULL
270	289547500	Disease	p.Arg388Trp	102770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	75	cd00443	NULL
270	289547500	Disease	p.Arg388Trp	102770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	58	cd01292	NULL
270	289547500	Disease	p.Arg388Trp	102770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	197	cd01319	NULL
270	289547500	Disease	p.Arg388Trp	102770.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	60	pfam00962	NULL
270	289547498	Disease	p.Arg425His	102770.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	238	cd01319	NULL
270	289547498	Disease	p.Arg425His	102770.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	135	cd01292	NULL
270	289547498	Disease	p.Arg425His	102770.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	46	COG1816	NULL
270	289547498	Disease	p.Arg425His	102770.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	116	cd00443	NULL
270	289547498	Disease	p.Arg425His	102770.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	101	pfam00962	NULL
270	289547500	Disease	p.Arg425His	102770.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	42	COG1816	NULL
270	289547500	Disease	p.Arg425His	102770.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	112	cd00443	NULL
270	289547500	Disease	p.Arg425His	102770.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	131	cd01292	NULL
270	289547500	Disease	p.Arg425His	102770.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	234	cd01319	NULL
270	289547500	Disease	p.Arg425His	102770.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO	OMIM	97	pfam00962	NULL
118	29826321	Disease	p.Gly460Trp	102680.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102680	HYPERTENSION, SALT-SENSITIVE ESSENTIAL, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
118	29826325	Disease	p.Gly460Trp	102680.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102680	HYPERTENSION, SALT-SENSITIVE ESSENTIAL, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
118	29826323	Disease	p.Gly460Trp	102680.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102680	HYPERTENSION, SALT-SENSITIVE ESSENTIAL, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	NULL
118	12644231	Disease	p.Gly460Trp	102680.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102680	HYPERTENSION, SALT-SENSITIVE ESSENTIAL, SUSCEPTIBILITY TO	OMIM	No Domain	N/A	29826319,NP_001110
60	46397333	Disease	p.Arg183Trp	102630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102630	DYSTONIA, JUVENILE-ONSET	OMIM	293	COG5277	4501885,NP_001092
60	46397333	Disease	p.Arg183Trp	102630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102630	DYSTONIA, JUVENILE-ONSET	OMIM	305	pfam00022	4501885,NP_001092
60	46397333	Disease	p.Arg183Trp	102630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102630	DYSTONIA, JUVENILE-ONSET	OMIM	369	cd00012	4501885,NP_001092
60	46397333	Disease	p.Arg183Trp	102630.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102630	DYSTONIA, JUVENILE-ONSET	OMIM	663	smart00268	4501885,NP_001092
59	51316972	Disease	p.Arg149Cys	102620.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	215	COG5277	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg149Cys	102620.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	304	smart00268	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg149Cys	102620.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	291	cd00012	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg149Cys	102620.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	251	pfam00022	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg149Cys	102620.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	215	COG5277	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg149Cys	102620.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	304	smart00268	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg149Cys	102620.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	291	cd00012	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg149Cys	102620.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	251	pfam00022	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258His	102620.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	432	COG5277	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258His	102620.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	863	smart00268	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258His	102620.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	650	cd00012	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258His	102620.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	517	pfam00022	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258His	102620.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	432	COG5277	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258His	102620.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	863	smart00268	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258His	102620.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	650	cd00012	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258His	102620.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	517	pfam00022	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258Cys	102620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	432	COG5277	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258Cys	102620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	863	smart00268	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258Cys	102620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	650	cd00012	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258Cys	102620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	517	pfam00022	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258Cys	102620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	432	COG5277	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258Cys	102620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	863	smart00268	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258Cys	102620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	650	cd00012	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258Cys	102620.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102620	AORTIC ANEURYSM, FAMILIAL THORACIC 6	OMIM	517	pfam00022	213688375,NP_001135417|4501883,NP_001604
58	61218043	Disease	p.Leu94Pro	102610.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	187	smart00268	4501881,NP_001091
58	61218043	Disease	p.Leu94Pro	102610.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	222	cd00012	4501881,NP_001091
58	61218043	Disease	p.Leu94Pro	102610.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	146	COG5277	4501881,NP_001091
58	61218043	Disease	p.Leu94Pro	102610.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	149	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Asn115Ser	102610.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	224	smart00268	4501881,NP_001091
58	61218043	Disease	p.Asn115Ser	102610.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	254	cd00012	4501881,NP_001091
58	61218043	Disease	p.Asn115Ser	102610.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	173	COG5277	4501881,NP_001091
58	61218043	Disease	p.Asn115Ser	102610.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	217	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Gly15Arg	102610.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS	OMIM	9	smart00268	4501881,NP_001091
58	61218043	Disease	p.Gly15Arg	102610.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS	OMIM	7	cd00012	4501881,NP_001091
58	61218043	Disease	p.Gly15Arg	102610.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS	OMIM	20	COG5277	4501881,NP_001091
58	61218043	Disease	p.Gly15Arg	102610.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS	OMIM	11	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Val163Leu	102610.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	318	smart00268	4501881,NP_001091
58	61218043	Disease	p.Val163Leu	102610.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	347	cd00012	4501881,NP_001091
58	61218043	Disease	p.Val163Leu	102610.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	271	COG5277	4501881,NP_001091
58	61218043	Disease	p.Val163Leu	102610.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	283	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Glu259Val	102610.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	864	smart00268	4501881,NP_001091
58	61218043	Disease	p.Glu259Val	102610.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	651	cd00012	4501881,NP_001091
58	61218043	Disease	p.Glu259Val	102610.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	433	COG5277	4501881,NP_001091
58	61218043	Disease	p.Glu259Val	102610.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	518	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Ile357Leu	102610.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	1083	smart00268	4501881,NP_001091
58	61218043	Disease	p.Ile357Leu	102610.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	872	cd00012	4501881,NP_001091
58	61218043	Disease	p.Ile357Leu	102610.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	888	COG5277	4501881,NP_001091
58	61218043	Disease	p.Ile357Leu	102610.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	681	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Gly268Cys	102610.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	895	smart00268	4501881,NP_001091
58	61218043	Disease	p.Gly268Cys	102610.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	660	cd00012	4501881,NP_001091
58	61218043	Disease	p.Gly268Cys	102610.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	490	COG5277	4501881,NP_001091
58	61218043	Disease	p.Gly268Cys	102610.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	532	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Ile136Met	102610.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	245	smart00268	4501881,NP_001091
58	61218043	Disease	p.Ile136Met	102610.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	278	cd00012	4501881,NP_001091
58	61218043	Disease	p.Ile136Met	102610.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	202	COG5277	4501881,NP_001091
58	61218043	Disease	p.Ile136Met	102610.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	238	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Asp1Tyr	102610.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, ACTIN, CONGENITAL, WITH CORES	OMIM	No Domain	N/A	4501881,NP_001091
58	61218043	Disease	p.Glu334Ala	102610.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, ACTIN, CONGENITAL, WITH CORES	OMIM	1056	smart00268	4501881,NP_001091
58	61218043	Disease	p.Glu334Ala	102610.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, ACTIN, CONGENITAL, WITH CORES	OMIM	846	cd00012	4501881,NP_001091
58	61218043	Disease	p.Glu334Ala	102610.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, ACTIN, CONGENITAL, WITH CORES	OMIM	859	COG5277	4501881,NP_001091
58	61218043	Disease	p.Glu334Ala	102610.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, ACTIN, CONGENITAL, WITH CORES	OMIM	653	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Asp292Val	102610.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	936	smart00268	4501881,NP_001091
58	61218043	Disease	p.Asp292Val	102610.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	734	cd00012	4501881,NP_001091
58	61218043	Disease	p.Asp292Val	102610.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	750	COG5277	4501881,NP_001091
58	61218043	Disease	p.Asp292Val	102610.0011	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	590	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Leu221Pro	102610.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	750	smart00268	4501881,NP_001091
58	61218043	Disease	p.Leu221Pro	102610.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	483	cd00012	4501881,NP_001091
58	61218043	Disease	p.Leu221Pro	102610.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	362	COG5277	4501881,NP_001091
58	61218043	Disease	p.Leu221Pro	102610.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	390	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Pro332Ser	102610.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	1054	smart00268	4501881,NP_001091
58	61218043	Disease	p.Pro332Ser	102610.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	844	cd00012	4501881,NP_001091
58	61218043	Disease	p.Pro332Ser	102610.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	857	COG5277	4501881,NP_001091
58	61218043	Disease	p.Pro332Ser	102610.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	OMIM	651	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Val163Met	102610.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	318	smart00268	4501881,NP_001091
58	61218043	Disease	p.Val163Met	102610.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	347	cd00012	4501881,NP_001091
58	61218043	Disease	p.Val163Met	102610.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	271	COG5277	4501881,NP_001091
58	61218043	Disease	p.Val163Met	102610.0014	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	283	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Glu74Asp	102610.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	167	smart00268	4501881,NP_001091
58	61218043	Disease	p.Glu74Asp	102610.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	193	cd00012	4501881,NP_001091
58	61218043	Disease	p.Glu74Asp	102610.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	126	COG5277	4501881,NP_001091
58	61218043	Disease	p.Glu74Asp	102610.0015	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102610	NEMALINE MYOPATHY 3	OMIM	129	pfam00022	4501881,NP_001091
353	114074	Disease	p.Met136Thr	102600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102600	APRT DEFICIENCY, JAPANESE TYPE	OMIM	217	pfam00156	4502171,NP_000476
353	114074	Disease	p.Met136Thr	102600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102600	APRT DEFICIENCY, JAPANESE TYPE	OMIM	158	COG0503	4502171,NP_000476
353	71773201	Disease	p.Met136Thr	102600.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102600	APRT DEFICIENCY, JAPANESE TYPE	OMIM	No Domain	N/A	NULL
353	114074	Disease	p.Asp65Val	102600.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102600	APRT DEFICIENCY, COMPLETE, ICELANDIC TYPE	OMIM	57	pfam00156	4502171,NP_000476
353	114074	Disease	p.Asp65Val	102600.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102600	APRT DEFICIENCY, COMPLETE, ICELANDIC TYPE	OMIM	76	COG0503	4502171,NP_000476
353	71773201	Disease	p.Asp65Val	102600.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102600	APRT DEFICIENCY, COMPLETE, ICELANDIC TYPE	OMIM	76	COG0503	NULL
353	114074	Disease	p.Leu110Pro	102600.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102600	APRT DEFICIENCY	OMIM	190	pfam00156	4502171,NP_000476
353	114074	Disease	p.Leu110Pro	102600.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102600	APRT DEFICIENCY	OMIM	129	COG0503	4502171,NP_000476
353	71773201	Disease	p.Leu110Pro	102600.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102600	APRT DEFICIENCY	OMIM	129	COG0503	NULL
6774	47458820	Disease	p.Arg382Trp	102582.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102582	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	OMIM	68	pfam02864	NULL
6774	21618338	Disease	p.Arg382Trp	102582.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102582	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	OMIM	68	pfam02864	NULL
6774	48429227	Disease	p.Arg382Trp	102582.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102582	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	OMIM	68	pfam02864	21618340,NP_644805
6774	47458820	Disease	p.Arg382Gln	102582.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102582	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	OMIM	68	pfam02864	NULL
6774	21618338	Disease	p.Arg382Gln	102582.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102582	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	OMIM	68	pfam02864	NULL
6774	48429227	Disease	p.Arg382Gln	102582.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102582	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	OMIM	68	pfam02864	21618340,NP_644805
6774	47458820	Disease	p.Arg423Gln	102582.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102582	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	OMIM	110	pfam02864	NULL
6774	21618338	Disease	p.Arg423Gln	102582.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102582	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	OMIM	110	pfam02864	NULL
6774	48429227	Disease	p.Arg423Gln	102582.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102582	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	OMIM	110	pfam02864	21618340,NP_644805
6774	47458820	Disease	p.Arg383Leu	102582.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102582	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	OMIM	69	pfam02864	NULL
6774	21618338	Disease	p.Arg383Leu	102582.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102582	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	OMIM	69	pfam02864	NULL
6774	48429227	Disease	p.Arg383Leu	102582.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102582	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	OMIM	69	pfam02864	21618340,NP_644805
6774	47458820	Disease	p.Val637Met	102582.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102582	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	OMIM	90	cd00173	NULL
6774	47458820	Disease	p.Val637Met	102582.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102582	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	OMIM	69	pfam00017	NULL
6774	21618338	Disease	p.Val637Met	102582.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102582	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	OMIM	90	cd00173	NULL
6774	21618338	Disease	p.Val637Met	102582.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102582	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	OMIM	69	pfam00017	NULL
6774	48429227	Disease	p.Val637Met	102582.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102582	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	OMIM	90	cd00173	21618340,NP_644805
6774	48429227	Disease	p.Val637Met	102582.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102582	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	OMIM	69	pfam00017	21618340,NP_644805
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	18	cd06638	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd06616	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	6	cd05032	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	3	cd06613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	3	cd06612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	6_G	cd05052	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	15	cd07851	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	2	cd08229	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	2	cd08224	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05065	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05066	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05081	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05079	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05059	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	6	cd05039	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05092	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	21	cd06658	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	10	cd06614	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	10	cd05057	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd07844	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05062	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05051	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05050	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd06641	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05073	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05067	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05070	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05072	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd06642	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd06640	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05033	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05038	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05061	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05071	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05114	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05113	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05112	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd07845	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05049	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	12	cd07865	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	18	cd06648	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	24	cd06639	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	8	cd05046	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	9	cd06646	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	9	cd06645	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	9	cd07866	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	10	cd05111	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05063	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05093	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05056	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	6	cd05068	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05091	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05090	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05048	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	6	cd05082	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05064	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05036	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	16	cd06636	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	7	cd07864	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	6	cd06637	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	31	smart00467	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	122	cd05104	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	11	cd06624	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	11	cd05053	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	11	cd05099	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	20	cd06659	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	20	cd06635	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	18	cd06638	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd06616	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	6	cd05032	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	3	cd06613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	3	cd06612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	6_G	cd05052	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	15	cd07851	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	2	cd08229	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	2	cd08224	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05065	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05066	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05081	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05079	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05059	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	6	cd05039	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05092	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	21	cd06658	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	10	cd06614	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	10	cd05057	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd07844	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05062	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05051	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05050	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd06641	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05073	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05067	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05070	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05072	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd06642	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd06640	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05033	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05038	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05061	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05071	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05114	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05113	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05112	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd07845	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	4	cd05049	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	12	cd07865	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	18	cd06648	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	24	cd06639	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	8	cd05046	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	9	cd06646	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	9	cd06645	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	9	cd07866	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	10	cd05111	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05063	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05093	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05056	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	6	cd05068	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05091	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05090	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05048	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	6	cd05082	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05064	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	5	cd05036	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	16	cd06636	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	7	cd07864	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	6	cd06637	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	31	smart00467	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	122	cd05104	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	11	cd06624	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	11	cd05053	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	11	cd05099	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	20	cd06659	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	102576.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	20	cd06635	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	169	cd06638	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	160	cd06616	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	209	cd05032	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	148	cd06613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	160	cd06612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	165	cd07832	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	147	cd08221	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	162	cd07841	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	148	cd07836	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	235	cd06606	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	154	cd08530	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	155	cd06627	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	153	cd06628	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	156	cd08220	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	151	cd08529	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	147	cd08223	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	145	cd08219	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	205	cd08215	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	146	cd05578	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	149	cd06631	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	154	cd07857	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	163	cd05613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	255	cd07842	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	144	cd07839	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	156	cd07863	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	151	cd07847	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	164	cd07837	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	164	cd06605	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	161	cd06622	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	147	cd06615	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	152	cd05034	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	145	cd05083	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	156	cd06917	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	169	cd06609	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	146	cd05612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	157	cd06610	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	146	cd07846	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	152	cd05080	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	150	cd06617	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	169	cd05088	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	261	cd05581	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	149	cd05052	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	179	cd07851	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	320	pfam07714	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	458	smart00219	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	256	pfam00069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	158	cd05074	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	168	cd05035	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	172	cd07835	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	623	smart00221	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	150	cd06611	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	151	cd08229	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	152	cd08224	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	151	cd05065	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	151	cd05066	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	153	cd05081	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	154	cd05079	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	147	cd05059	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	151	cd05039	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	150	cd05058	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	155	cd06629	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	151	cd06625	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	143	cd05570	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	150	cd05087	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	139	cd05084	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	141	cd05041	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	162	cd05044	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	139	cd05085	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	145	cd05086	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	153	cd05040	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	140	cd05116	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	147	cd05060	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	365	cd00192	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	164	cd06632	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	167	cd05092	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	445	cd00180	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	140	cd05607	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	141	cd05579	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	145	cd05577	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	142	cd05608	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	661	cd05123	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	163	cd06658	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	197	cd06614	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	207	cd05057	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	149	cd07844	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	164	cd05062	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	210	cd05051	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	178	cd05050	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	146	cd06641	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	148	cd05073	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	147	cd05069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	147	cd05067	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	147	cd05070	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	148	cd05072	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	146	cd06642	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	146	cd06640	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	183	cd05033	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	177	cd05038	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	165	cd05061	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	147	cd05071	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	145	cd05114	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	146	cd05113	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	145	cd05112	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	166	cd07845	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	177	cd05049	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	148	cd06626	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	157	cd07867	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	195	cd07840	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	172	cd07833	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	216	cd08217	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	169	cd07865	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	161	cd06648	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	143	cd05606	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	180	cd06639	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	231	cd05046	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	151	cd06646	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	151	cd06645	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	176	cd07866	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	154	cd05111	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	530	smart00220	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	153	cd05063	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	165	cd05093	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	181	cd05056	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	150	cd05068	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	169	cd05091	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	169	cd05090	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	172	cd05048	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	147	cd05082	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	152	cd05064	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	166	cd05036	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	148	cd05042	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	188	cd06608	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	191	cd07834	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	150	cd05148	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	180	cd05122	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	221	cd07830	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	194	cd06623	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	154	cd05118	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	195	cd07829	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	166	cd06636	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	163	cd07864	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	156	cd06637	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	269	cd05104	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	159	cd06624	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	195	cd05053	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	179	cd05099	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	162	cd06659	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	170	cd06635	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	169	cd06638	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	160	cd06616	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	209	cd05032	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	148	cd06613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	160	cd06612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	165	cd07832	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	147	cd08221	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	162	cd07841	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	148	cd07836	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	235	cd06606	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	154	cd08530	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	155	cd06627	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	153	cd06628	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	156	cd08220	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	151	cd08529	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	147	cd08223	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	145	cd08219	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	205	cd08215	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	146	cd05578	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	149	cd06631	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	154	cd07857	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	163	cd05613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	255	cd07842	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	144	cd07839	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	156	cd07863	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	151	cd07847	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	164	cd07837	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	164	cd06605	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	161	cd06622	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	147	cd06615	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	152	cd05034	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	145	cd05083	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	156	cd06917	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	169	cd06609	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	146	cd05612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	157	cd06610	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	146	cd07846	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	152	cd05080	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	150	cd06617	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	169	cd05088	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	261	cd05581	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	149	cd05052	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	179	cd07851	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	320	pfam07714	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	458	smart00219	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	256	pfam00069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	158	cd05074	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	168	cd05035	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	172	cd07835	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	623	smart00221	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	150	cd06611	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	151	cd08229	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	152	cd08224	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	151	cd05065	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	151	cd05066	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	153	cd05081	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	154	cd05079	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	147	cd05059	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	151	cd05039	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	150	cd05058	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	155	cd06629	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	151	cd06625	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	143	cd05570	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	150	cd05087	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	139	cd05084	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	141	cd05041	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	162	cd05044	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	139	cd05085	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	145	cd05086	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	153	cd05040	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	140	cd05116	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	147	cd05060	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	365	cd00192	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	164	cd06632	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	167	cd05092	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	445	cd00180	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	140	cd05607	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	141	cd05579	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	145	cd05577	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	142	cd05608	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	661	cd05123	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	163	cd06658	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	197	cd06614	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	207	cd05057	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	149	cd07844	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	164	cd05062	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	210	cd05051	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	178	cd05050	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	146	cd06641	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	148	cd05073	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	147	cd05069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	147	cd05067	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	147	cd05070	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	148	cd05072	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	146	cd06642	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	146	cd06640	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	183	cd05033	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	177	cd05038	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	165	cd05061	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	147	cd05071	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	145	cd05114	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	146	cd05113	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	145	cd05112	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	166	cd07845	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	177	cd05049	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	148	cd06626	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	157	cd07867	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	195	cd07840	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	172	cd07833	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	216	cd08217	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	169	cd07865	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	161	cd06648	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	143	cd05606	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	180	cd06639	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	231	cd05046	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	151	cd06646	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	151	cd06645	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	176	cd07866	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	154	cd05111	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	530	smart00220	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	153	cd05063	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	165	cd05093	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	181	cd05056	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	150	cd05068	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	169	cd05091	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	169	cd05090	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	172	cd05048	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	147	cd05082	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	152	cd05064	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	166	cd05036	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	148	cd05042	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	188	cd06608	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	191	cd07834	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	150	cd05148	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	180	cd05122	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	221	cd07830	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	194	cd06623	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	154	cd05118	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	195	cd07829	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	166	cd06636	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	163	cd07864	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	156	cd06637	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	269	cd05104	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	159	cd06624	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	195	cd05053	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	179	cd05099	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	162	cd06659	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	102576.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	170	cd06635	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	73	cd06638	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	66	cd06616	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	98	cd05032	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	60	cd06613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	68	cd06612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	64	cd07832	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd08221	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	71	cd07841	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	56	cd07836	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	119	cd06606	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	58	cd08530	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	62	cd06627	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	66	cd06628	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd08220	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	52	cd08529	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd08223	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	56	cd08219	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	75	cd08215	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	58	cd05578	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	60	cd06631	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	60	cd07857	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	152	cd07842	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd07839	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	63	cd07863	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	55	cd07847	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd07837	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	58	cd06605	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	53_G	cd06622	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	53_G	cd06615	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05034	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd05083	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	66	cd06917	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	70	cd06609	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	55	cd05612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd06610	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd07846	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	64	cd05080	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	48	cd06617	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	66	cd05088	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	103	cd05581	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	60	cd05052	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	79	cd07851	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	93	pfam07714	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	212	smart00219	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	87	pfam00069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05074	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	69	cd05035	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	56	cd07835	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	287	smart00221	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	61	cd06611	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	60	cd08229	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	61	cd08224	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	63	cd05065	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	63	cd05066	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	63	cd05081	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	64	cd05079	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd05059	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	61	cd05039	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	61	cd05058	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	66	cd06629	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	62	cd06625	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	56	cd05570	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	53	cd05087	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	48	cd05084	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	52	cd05041	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd05044	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	48	cd05085	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	53	cd05086	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd05040	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	52	cd05116	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05060	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	108	cd00192	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	67	cd06632	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	65	cd05092	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	146	cd00180	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	48	cd05607	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	50	cd05579	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	56	cd05577	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	43	cd05608	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	70	cd05123	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	74	cd06658	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	86	cd06614	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	116	cd05057	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	61	cd07844	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	63	cd05062	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	99	cd05051	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	66	cd05050	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	58	cd06641	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05073	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05067	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05070	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05072	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	58	cd06642	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	58	cd06640	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	85	cd05033	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	68	cd05038	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	69	cd05061	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05071	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd05114	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd05113	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd05112	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	64	cd07845	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	66	cd05049	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	60	cd06626	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	56	cd07867	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	83	cd07840	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	78	cd07833	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd08217	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	70	cd07865	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	74	cd06648	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	49	cd05606	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	84	cd06639	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	126	cd05046	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	64	cd06646	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	64	cd06645	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	66	cd07866	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	67	cd05111	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	183	smart00220	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	56	cd05063	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	65	cd05093	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	94	cd05056	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05068	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	62	cd05091	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	65	cd05090	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	67	cd05048	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd05082	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	64	cd05064	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	67	cd05036	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	56	cd05042	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	82	cd06608	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	84	cd07834	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	61	cd05148	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	74	cd05122	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	90	cd07830	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	67	cd06623	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	56	cd05118	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	63	cd07829	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	67	cd06636	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	61	cd07864	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	61	cd06637	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	175	cd05104	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	63	cd06624	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	76	cd05053	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	76	cd05099	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	76	cd06659	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	83	cd06635	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	73	cd06638	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	66	cd06616	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	98	cd05032	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	60	cd06613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	68	cd06612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	64	cd07832	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd08221	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	71	cd07841	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	56	cd07836	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	119	cd06606	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	58	cd08530	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	62	cd06627	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	66	cd06628	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd08220	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	52	cd08529	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd08223	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	56	cd08219	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	75	cd08215	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	58	cd05578	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	60	cd06631	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	60	cd07857	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	152	cd07842	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd07839	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	63	cd07863	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	55	cd07847	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd07837	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	58	cd06605	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	53_G	cd06622	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	53_G	cd06615	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05034	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd05083	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	66	cd06917	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	70	cd06609	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	55	cd05612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd06610	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd07846	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	64	cd05080	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	48	cd06617	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	66	cd05088	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	103	cd05581	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	60	cd05052	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	79	cd07851	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	93	pfam07714	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	212	smart00219	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	87	pfam00069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05074	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	69	cd05035	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	56	cd07835	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	287	smart00221	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	61	cd06611	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	60	cd08229	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	61	cd08224	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	63	cd05065	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	63	cd05066	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	63	cd05081	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	64	cd05079	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd05059	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	61	cd05039	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	61	cd05058	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	66	cd06629	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	62	cd06625	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	56	cd05570	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	53	cd05087	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	48	cd05084	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	52	cd05041	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd05044	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	48	cd05085	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	53	cd05086	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd05040	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	52	cd05116	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05060	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	108	cd00192	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	67	cd06632	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	65	cd05092	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	146	cd00180	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	48	cd05607	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	50	cd05579	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	56	cd05577	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	43	cd05608	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	70	cd05123	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	74	cd06658	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	86	cd06614	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	116	cd05057	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	61	cd07844	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	63	cd05062	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	99	cd05051	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	66	cd05050	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	58	cd06641	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05073	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05067	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05070	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05072	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	58	cd06642	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	58	cd06640	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	85	cd05033	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	68	cd05038	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	69	cd05061	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05071	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd05114	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd05113	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd05112	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	64	cd07845	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	66	cd05049	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	60	cd06626	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	56	cd07867	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	83	cd07840	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	78	cd07833	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd08217	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	70	cd07865	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	74	cd06648	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	49	cd05606	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	84	cd06639	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	126	cd05046	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	64	cd06646	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	64	cd06645	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	66	cd07866	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	67	cd05111	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	183	smart00220	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	56	cd05063	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	65	cd05093	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	94	cd05056	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	59	cd05068	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	62	cd05091	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	65	cd05090	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	67	cd05048	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	57	cd05082	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	64	cd05064	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	67	cd05036	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	56	cd05042	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	82	cd06608	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	84	cd07834	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	61	cd05148	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	74	cd05122	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	90	cd07830	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	67	cd06623	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	56	cd05118	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	63	cd07829	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	67	cd06636	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	61	cd07864	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	61	cd06637	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	175	cd05104	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	63	cd06624	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	76	cd05053	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	76	cd05099	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	76	cd06659	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg258Ser	102576.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102576	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA	OMIM	83	cd06635	4501895,NP_001096|166235898,NP_001104537
88	543742	Disease	p.Gln9Arg	102573.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102573	CARDIOMYOPATHY, DILATED, 1AA	OMIM	No Domain	N/A	4501893,NP_001094
71	54036678	Disease	p.Thr89Ile	102560.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	143	COG5277	4501887,NP_001605
71	54036678	Disease	p.Thr89Ile	102560.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	146	pfam00022	4501887,NP_001605
71	54036678	Disease	p.Thr89Ile	102560.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	219	cd00012	4501887,NP_001605
71	54036678	Disease	p.Thr89Ile	102560.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	184	smart00268	4501887,NP_001605
71	54036678	Disease	p.Lys118Met	102560.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	186	COG5277	4501887,NP_001605
71	54036678	Disease	p.Lys118Met	102560.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	222	pfam00022	4501887,NP_001605
71	54036678	Disease	p.Lys118Met	102560.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	262	cd00012	4501887,NP_001605
71	54036678	Disease	p.Lys118Met	102560.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	229	smart00268	4501887,NP_001605
71	54036678	Disease	p.Pro332Ala	102560.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	859	COG5277	4501887,NP_001605
71	54036678	Disease	p.Pro332Ala	102560.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	653	pfam00022	4501887,NP_001605
71	54036678	Disease	p.Pro332Ala	102560.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	846	cd00012	4501887,NP_001605
71	54036678	Disease	p.Pro332Ala	102560.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	1056	smart00268	4501887,NP_001605
71	54036678	Disease	p.Pro264Leu	102560.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	440	COG5277	4501887,NP_001605
71	54036678	Disease	p.Pro264Leu	102560.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	530	pfam00022	4501887,NP_001605
71	54036678	Disease	p.Pro264Leu	102560.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	658	cd00012	4501887,NP_001605
71	54036678	Disease	p.Pro264Leu	102560.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	893	smart00268	4501887,NP_001605
71	54036678	Disease	p.Thr278Ile	102560.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	728	COG5277	4501887,NP_001605
71	54036678	Disease	p.Thr278Ile	102560.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	576	pfam00022	4501887,NP_001605
71	54036678	Disease	p.Thr278Ile	102560.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	720	cd00012	4501887,NP_001605
71	54036678	Disease	p.Thr278Ile	102560.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	917	smart00268	4501887,NP_001605
71	54036678	Disease	p.Val370Ala	102560.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	903	COG5277	4501887,NP_001605
71	54036678	Disease	p.Val370Ala	102560.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	699	pfam00022	4501887,NP_001605
71	54036678	Disease	p.Val370Ala	102560.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	887	cd00012	4501887,NP_001605
71	54036678	Disease	p.Val370Ala	102560.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	1108	smart00268	4501887,NP_001605
71	54036678	Disease	p.Lys118Asn	102560.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	186	COG5277	4501887,NP_001605
71	54036678	Disease	p.Lys118Asn	102560.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	222	pfam00022	4501887,NP_001605
71	54036678	Disease	p.Lys118Asn	102560.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	262	cd00012	4501887,NP_001605
71	54036678	Disease	p.Lys118Asn	102560.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	229	smart00268	4501887,NP_001605
71	54036678	Disease	p.Glu241Lys	102560.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	404	COG5277	4501887,NP_001605
71	54036678	Disease	p.Glu241Lys	102560.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	452	pfam00022	4501887,NP_001605
71	54036678	Disease	p.Glu241Lys	102560.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	588	cd00012	4501887,NP_001605
71	54036678	Disease	p.Glu241Lys	102560.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102560	DEAFNESS, AUTOSOMAL DOMINANT 20	OMIM	826	smart00268	4501887,NP_001605
70	54036697	Disease	p.Arg312His	102540.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, DILATED, 1R	OMIM	770	COG5277	4885049,NP_005150
70	54036697	Disease	p.Arg312His	102540.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, DILATED, 1R	OMIM	956	smart00268	4885049,NP_005150
70	54036697	Disease	p.Arg312His	102540.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, DILATED, 1R	OMIM	754	cd00012	4885049,NP_005150
70	54036697	Disease	p.Arg312His	102540.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, DILATED, 1R	OMIM	610	pfam00022	4885049,NP_005150
70	54036697	Disease	p.Glu361Gly	102540.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, DILATED, 1R	OMIM	892	COG5277	4885049,NP_005150
70	54036697	Disease	p.Glu361Gly	102540.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, DILATED, 1R	OMIM	1087	smart00268	4885049,NP_005150
70	54036697	Disease	p.Glu361Gly	102540.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, DILATED, 1R	OMIM	876	cd00012	4885049,NP_005150
70	54036697	Disease	p.Glu361Gly	102540.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, DILATED, 1R	OMIM	685	pfam00022	4885049,NP_005150
70	54036697	Disease	p.Ala295Ser	102540.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11	OMIM	753	COG5277	4885049,NP_005150
70	54036697	Disease	p.Ala295Ser	102540.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11	OMIM	939	smart00268	4885049,NP_005150
70	54036697	Disease	p.Ala295Ser	102540.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11	OMIM	737	cd00012	4885049,NP_005150
70	54036697	Disease	p.Ala295Ser	102540.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11	OMIM	593	pfam00022	4885049,NP_005150
70	54036697	Disease	p.His90Tyr	102540.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11	OMIM	142	COG5277	4885049,NP_005150
70	54036697	Disease	p.His90Tyr	102540.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11	OMIM	183	smart00268	4885049,NP_005150
70	54036697	Disease	p.His90Tyr	102540.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11	OMIM	218	cd00012	4885049,NP_005150
70	54036697	Disease	p.His90Tyr	102540.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11	OMIM	145	pfam00022	4885049,NP_005150
70	54036697	Disease	p.Met123Val	102540.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	ATRIAL SEPTAL DEFECT 5	OMIM	189	COG5277	4885049,NP_005150
70	54036697	Disease	p.Met123Val	102540.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	ATRIAL SEPTAL DEFECT 5	OMIM	232	smart00268	4885049,NP_005150
70	54036697	Disease	p.Met123Val	102540.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	ATRIAL SEPTAL DEFECT 5	OMIM	265	cd00012	4885049,NP_005150
70	54036697	Disease	p.Met123Val	102540.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	ATRIAL SEPTAL DEFECT 5	OMIM	225	pfam00022	4885049,NP_005150
70	54036697	Disease	p.Ala331Pro	102540.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11	OMIM	856	COG5277	4885049,NP_005150
70	54036697	Disease	p.Ala331Pro	102540.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11	OMIM	1053	smart00268	4885049,NP_005150
70	54036697	Disease	p.Ala331Pro	102540.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11	OMIM	843	cd00012	4885049,NP_005150
70	54036697	Disease	p.Ala331Pro	102540.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11	OMIM	650	pfam00022	4885049,NP_005150
70	54036697	Disease	p.Pro164Ala	102540.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11	OMIM	272	COG5277	4885049,NP_005150
70	54036697	Disease	p.Pro164Ala	102540.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11	OMIM	319	smart00268	4885049,NP_005150
70	54036697	Disease	p.Pro164Ala	102540.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11	OMIM	348	cd00012	4885049,NP_005150
70	54036697	Disease	p.Pro164Ala	102540.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11	OMIM	284	pfam00022	4885049,NP_005150
70	54036697	Disease	p.Glu101Lys	102540.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11||LEFT VENTRICULAR NONCOMPACTION 4	OMIM	159	COG5277	4885049,NP_005150
70	54036697	Disease	p.Glu101Lys	102540.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11||LEFT VENTRICULAR NONCOMPACTION 4	OMIM	209	smart00268	4885049,NP_005150
70	54036697	Disease	p.Glu101Lys	102540.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11||LEFT VENTRICULAR NONCOMPACTION 4	OMIM	240	cd00012	4885049,NP_005150
70	54036697	Disease	p.Glu101Lys	102540.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102540	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11||LEFT VENTRICULAR NONCOMPACTION 4	OMIM	203	pfam00022	4885049,NP_005150
429	20455478	Disease	p.Pro18Thr	100790.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100790	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	OMIM	No Domain	N/A	55743094,NP_004307
43	113037	Disease	p.His322Asn	100740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100740	YT BLOOD GROUP POLYMORPHISM	OMIM	358	COG0657	4557239,NP_000656
43	113037	Disease	p.His322Asn	100740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100740	YT BLOOD GROUP POLYMORPHISM	OMIM	336	cd00312	4557239,NP_000656
43	113037	Disease	p.His322Asn	100740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100740	YT BLOOD GROUP POLYMORPHISM	OMIM	314	COG2272	4557239,NP_000656
43	113037	Disease	p.His322Asn	100740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100740	YT BLOOD GROUP POLYMORPHISM	OMIM	492	pfam00135	4557239,NP_000656
43	7710112	Disease	p.His322Asn	100740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100740	YT BLOOD GROUP POLYMORPHISM	OMIM	358	COG0657	NULL
43	7710112	Disease	p.His322Asn	100740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100740	YT BLOOD GROUP POLYMORPHISM	OMIM	336	cd00312	NULL
43	7710112	Disease	p.His322Asn	100740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100740	YT BLOOD GROUP POLYMORPHISM	OMIM	314	COG2272	NULL
43	7710112	Disease	p.His322Asn	100740.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100740	YT BLOOD GROUP POLYMORPHISM	OMIM	492	pfam00135	NULL
1146	126302510	Disease	p.Arg217Cys	100730.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100730	ESCOBAR SYNDROME||MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	OMIM	279	pfam02931	61743914,NP_005190
1146	126302510	Disease	p.Val107Gly	100730.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100730	ESCOBAR SYNDROME||MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	OMIM	107	pfam02931	61743914,NP_005190
1145	1168301	Disease	p.Thr264Pro	100725.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100725	MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL	OMIM	18	pfam02932	4557463,NP_000071
1145	1168301	Disease	p.Leu269Phe	100725.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100725	MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL	OMIM	23	pfam02932	4557463,NP_000071
1145	1168301	Disease	p.Pro121Leu	100725.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100725	MYASTHENIC SYNDROME, FAST-CHANNEL CONGENITAL	OMIM	128	pfam02931	4557463,NP_000071
1145	1168301	Disease	p.Arg147Leu	100725.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100725	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	164	pfam02931	4557463,NP_000071
1145	1168301	Disease	p.Leu78Pro	100725.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100725	MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL, AUTOSOMAL RECESSIVE	OMIM	71	pfam02931	4557463,NP_000071
1145	1168301	Disease	p.Leu221Phe	100725.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100725	MYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL	OMIM	286	pfam02931	4557463,NP_000071
1145	1168301	Disease	p.Arg311Trp	100725.0016	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100725	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	OMIM	66	pfam02932	4557463,NP_000071
1145	1168301	Disease	p.Ser143Leu	100725.0018	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100725	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL	OMIM	160	pfam02931	4557463,NP_000071
1145	1168301	Disease	p.Ala411Pro	100725.0019	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100725	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL	OMIM	316	pfam02932	4557463,NP_000071
1144	543759	Disease	p.Ser268Phe	100720.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100720	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL	OMIM	16	pfam02932	4557461,NP_000742
1144	543759	Disease	p.Pro250Gln	100720.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100720	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL	OMIM	No Domain	N/A	4557461,NP_000742
1144	543759	Disease	p.Glu59Lys	100720.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100720	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL	OMIM	49	pfam02931	4557461,NP_000742
1144	543759	Disease	p.Phe74Leu	100720.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100720	MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	OMIM	64	pfam02931	4557461,NP_000742
1144	543759	Disease	p.Leu42Pro	100720.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100720	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL	OMIM	22	pfam02931	4557461,NP_000742
1144	543759	Disease	p.Ile58Lys	100720.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100720	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL	OMIM	48	pfam02931	4557461,NP_000742
1140	21903373	Disease	p.Val266Met	100710.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100710	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL	OMIM	15	pfam02932	41327726,NP_000738
1140	21903373	Disease	p.Leu263Met	100710.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100710	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL	OMIM	12	pfam02932	41327726,NP_000738
1134	4557457	Disease	p.Asn217Lys	100690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL	OMIM	292	pfam02931	NULL
1134	113071	Disease	p.Asn217Lys	100690.0001	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL	OMIM	262	pfam02931	87567783,NP_001034612
1134	4557457	Disease	p.Val156Met	100690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL	OMIM	173	pfam02931	NULL
1134	113071	Disease	p.Val156Met	100690.0002	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL	OMIM	139	pfam02931	87567783,NP_001034612
1134	4557457	Disease	p.Thr254Ile	100690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL	OMIM	17	pfam02932	NULL
1134	113071	Disease	p.Thr254Ile	100690.0003	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL	OMIM	316	pfam02931	87567783,NP_001034612
1134	4557457	Disease	p.Gly153Ser	100690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL	OMIM	170	pfam02931	NULL
1134	113071	Disease	p.Gly153Ser	100690.0004	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL	OMIM	136	pfam02931	87567783,NP_001034612
1134	4557457	Disease	p.Ser269Ile	100690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL	OMIM	33	pfam02932	NULL
1134	113071	Disease	p.Ser269Ile	100690.0005	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL	OMIM	7	pfam02932	87567783,NP_001034612
1134	4557457	Disease	p.Val249Phe	100690.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL	OMIM	12	pfam02932	NULL
1134	113071	Disease	p.Val249Phe	100690.0006	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL	OMIM	311	pfam02931	87567783,NP_001034612
1134	4557457	Disease	p.Val285Ile	100690.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL	OMIM	49	pfam02932	NULL
1134	113071	Disease	p.Val285Ile	100690.0007	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL	OMIM	23	pfam02932	87567783,NP_001034612
1134	4557457	Disease	p.Phe233Val	100690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL	OMIM	No Domain	N/A	NULL
1134	113071	Disease	p.Phe233Val	100690.0008	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL	OMIM	280	pfam02931	87567783,NP_001034612
1134	4557457	Disease	p.Phe256Leu	100690.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL	OMIM	19	pfam02932	NULL
1134	113071	Disease	p.Phe256Leu	100690.0009	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL	OMIM	No Domain	N/A	87567783,NP_001034612
1134	4557457	Disease	p.Val132Leu	100690.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL	OMIM	140	pfam02931	NULL
1134	113071	Disease	p.Val132Leu	100690.0010	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL	OMIM	109	pfam02931	87567783,NP_001034612
1134	4557457	Disease	p.Cys418Trp	100690.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL	OMIM	450	pfam02932	NULL
1134	113071	Disease	p.Cys418Trp	100690.0012	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL	OMIM	326	pfam02932	87567783,NP_001034612
1134	4557457	Disease	p.Arg254Leu	100690.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	OMIM	17	pfam02932	NULL
1134	113071	Disease	p.Arg254Leu	100690.0013	http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100690	MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	OMIM	316	pfam02931	87567783,NP_001034612
8086	20137527	Disease	p.Gln15Lys	VAR_012804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012804	- Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]	SWISS	No Domain	N/A	12962937,NP_056480
8086	20137527	Disease	p.His160Arg	VAR_012805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012805	- Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]	SWISS	28	cd00200	12962937,NP_056480
8086	20137527	Disease	p.Ser263Pro	VAR_012806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012806	- Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]	SWISS	300	cd00200	12962937,NP_056480
8086	20137527	Disease	p.Ser263Pro	VAR_012806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012806	- Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]	SWISS	101	smart00320	12962937,NP_056480
8086	20137527	Disease	p.Ser263Pro	VAR_012806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012806	- Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]	SWISS	54	pfam00400	12962937,NP_056480
16	115502460	Disease	p.Arg329His	VAR_063527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063527	- Charcot-Marie-Tooth disease type 2N (CMT2N) [MIM:613287]	SWISS	395	pfam01411	109148542,NP_001596
16	115502460	Disease	p.Arg329His	VAR_063527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063527	- Charcot-Marie-Tooth disease type 2N (CMT2N) [MIM:613287]	SWISS	436	COG0013	109148542,NP_001596
18	48429239	Disease	p.Arg220Lys	VAR_008883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008883	- Gamma-aminobutyrate transaminase deficiency (GABA-AT deficiency) [MIM:137150]	SWISS	175	COG4992	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	VAR_008883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008883	- Gamma-aminobutyrate transaminase deficiency (GABA-AT deficiency) [MIM:137150]	SWISS	204	cd00610	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	VAR_008883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008883	- Gamma-aminobutyrate transaminase deficiency (GABA-AT deficiency) [MIM:137150]	SWISS	92	cd01494	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	VAR_008883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008883	- Gamma-aminobutyrate transaminase deficiency (GABA-AT deficiency) [MIM:137150]	SWISS	169	COG0161	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	VAR_008883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008883	- Gamma-aminobutyrate transaminase deficiency (GABA-AT deficiency) [MIM:137150]	SWISS	149	pfam00202	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
18	48429239	Disease	p.Arg220Lys	VAR_008883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008883	- Gamma-aminobutyrate transaminase deficiency (GABA-AT deficiency) [MIM:137150]	SWISS	235	COG0160	188536080,NP_001120920|38679950,NP_000654|38679946,NP_065737
19	308153644	Disease	p.Pro85Leu	VAR_017529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017529	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	No Domain	N/A	21536376,NP_005493
19	308153644	Disease	p.Arg230Cys	VAR_012619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012619	rs9282541 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	No Domain	N/A	21536376,NP_005493
19	308153644	Disease	p.Ala255Thr	VAR_012620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012620	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	No Domain	N/A	21536376,NP_005493
19	308153644	Disease	p.Glu284Lys	VAR_062482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062482	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	No Domain	N/A	21536376,NP_005493
19	308153644	Disease	p.Tyr482Cys	VAR_062485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062485	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	10	COG2274	21536376,NP_005493
19	308153644	Disease	p.Arg587Trp	VAR_009146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009146	rs2853574 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	143	COG2274	21536376,NP_005493
19	308153644	Disease	p.Arg587Trp	VAR_009146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009146	rs2853574 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	279	COG1132	21536376,NP_005493
19	308153644	Disease	p.Trp590Leu	VAR_062487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062487	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	146	COG2274	21536376,NP_005493
19	308153644	Disease	p.Trp590Leu	VAR_062487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062487	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	288	COG1132	21536376,NP_005493
19	308153644	Disease	p.Trp590Ser	VAR_009147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009147	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	146	COG2274	21536376,NP_005493
19	308153644	Disease	p.Trp590Ser	VAR_009147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009147	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	288	COG1132	21536376,NP_005493
19	308153644	Disease	p.Gln597Arg	VAR_009148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009148	rs2853578 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	161	COG2274	21536376,NP_005493
19	308153644	Disease	p.Gln597Arg	VAR_009148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009148	rs2853578 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	295	COG1132	21536376,NP_005493
19	308153644	Disease	p.Trp840Arg	VAR_062491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062491	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	274	COG4987	21536376,NP_005493
19	308153644	Disease	p.Trp840Arg	VAR_062491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062491	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	226_G	COG5265	21536376,NP_005493
19	308153644	Disease	p.Trp840Arg	VAR_062491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062491	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	434	COG2274	21536376,NP_005493
19	308153644	Disease	p.Trp840Arg	VAR_062491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062491	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	242	COG4988	21536376,NP_005493
19	308153644	Disease	p.Trp840Arg	VAR_062491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062491	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	870	COG1132	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	40	COG1117	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03369	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	36	COG1137	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	cd03248	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	40	COG4525	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	63	COG4175	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	35	COG4598	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	35	COG1125	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	34	COG0411	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	58	COG1131	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03258	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	32	COG2884	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	COG0444	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	35	cd03244	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	30	COG4559	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	46	COG1136	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	COG1135	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	46	cd03257	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	33	cd03289	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	28	COG3840	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	384	COG4987	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	81	COG1119	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	54	COG4608	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	35	COG3845	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	36	COG1121	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	42	COG4167	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	50	COG1123	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	60	cd03215	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	73	COG1134	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	COG1124	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	35	COG3638	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	COG1116	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	32	COG4619	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	34	COG0488	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	55	COG3839	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	45	cd03213	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	COG1122	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	42	COG4674	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	36	COG4107	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	46	COG1129	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	COG4181	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	56	cd03227	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	cd03297	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	46	COG3842	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	295	COG5265	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	28	COG4138	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	571	COG2274	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	46	cd03225	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	86	cd00267	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	COG0396	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	31	cd03226	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	31	cd03235	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	45	cd03214	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	364	COG4988	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	34	COG4555	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	35	COG1101	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	30	COG4604	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	36	cd03293	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	cd03216	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	31	cd03224	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	50	cd03253	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	32	cd03249	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	32	cd03252	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	cd03234	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	35	cd03245	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	52	cd03301	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	53	cd03259	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	71	cd03220	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	31	cd03247	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	cd03266	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	50	cd03264	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	30	cd03268	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	50	cd03267	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	29	cd03269	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	57	cd03263	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	29	cd03265	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	32	cd03254	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	33	cd03300	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	31	cd03295	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	32	COG4136	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	35	cd03221	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	29	cd03231	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	53	cd03229	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	31	cd03290	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	101	cd03250	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	63	cd03228	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	31	cd03219	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	32	cd03256	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	31	cd03217	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	28	cd03299	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	58	cd03294	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	31	cd03261	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	33	cd03260	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	29	cd03222	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	29	cd03218	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	33	COG0410	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	34	cd03251	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	53	cd03230	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	42	cd03255	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	31	cd03292	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	34	cd03246	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	31	cd03262	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	45	cd03223	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	50	COG1127	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	1202	COG1132	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	5	smart00382	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	COG1126	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	31	COG4161	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	COG1120	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	32	cd03296	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	31	COG4152	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	35	COG4133	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	47	COG1118	21536376,NP_005493
19	308153644	Disease	p.Thr929Ile	VAR_012626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012626	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	27	cd03298	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	46	COG1117	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	cd03369	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	42	COG1137	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	49	cd03248	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	46	COG4525	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	69	COG4175	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	COG4598	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	COG1125	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	40	COG0411	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	64	COG1131	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	cd03258	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	COG2884	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	45	COG0444	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	cd03244	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	36	COG4559	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	52	COG1136	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	COG1135	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	52	cd03257	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	cd03289	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	34	COG3840	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	390	COG4987	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	87	COG1119	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	60	COG4608	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	COG3845	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	42	COG1121	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	48	COG4167	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	56	COG1123	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	66	cd03215	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	79	COG1134	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	49	COG1124	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	COG3638	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	44	COG1116	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	COG4619	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	40	COG0488	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	61	COG3839	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	51	cd03213	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	44	COG1122	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	48	COG4674	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	42	COG4107	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	52	COG1129	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	47	COG4181	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	62	cd03227	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	45	cd03297	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	52	COG3842	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	301	COG5265	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	34	COG4138	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	577	COG2274	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	52	cd03225	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	92	cd00267	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	47	COG0396	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03226	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03235	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	51	cd03214	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	370	COG4988	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	40	COG4555	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	COG1101	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	36	COG4604	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	42	cd03293	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	45	cd03216	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03224	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	56	cd03253	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	cd03249	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	cd03252	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	49	cd03234	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	cd03245	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	58	cd03301	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	59	cd03259	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	77	cd03220	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03247	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	49	cd03266	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	56	cd03264	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	36	cd03268	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	56	cd03267	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	35	cd03269	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	63	cd03263	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	35	cd03265	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	cd03254	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	cd03300	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03295	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	COG4136	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	cd03221	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	35	cd03231	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	59	cd03229	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03290	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	107	cd03250	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	69	cd03228	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03219	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	cd03256	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03217	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	34	cd03299	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	64	cd03294	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03261	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	cd03260	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	35	cd03222	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	35	cd03218	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	COG0410	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	40	cd03251	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	59	cd03230	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	48	cd03255	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03292	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	40	cd03246	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03262	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	51	cd03223	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	56	COG1127	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	1215	COG1132	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	12	smart00382	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	47	COG1126	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	COG4161	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	COG1120	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	cd03296	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	COG4152	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	COG4133	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	53	COG1118	21536376,NP_005493
19	308153644	Disease	p.Asn935His	VAR_037968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037968	rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	33	cd03298	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	46	COG1117	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	cd03369	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	42	COG1137	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	49	cd03248	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	46	COG4525	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	69	COG4175	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	COG4598	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	COG1125	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	40	COG0411	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	64	COG1131	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	cd03258	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	COG2884	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	45	COG0444	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	cd03244	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	36	COG4559	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	52	COG1136	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	COG1135	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	52	cd03257	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	cd03289	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	34	COG3840	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	390	COG4987	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	87	COG1119	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	60	COG4608	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	COG3845	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	42	COG1121	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	48	COG4167	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	56	COG1123	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	66	cd03215	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	79	COG1134	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	49	COG1124	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	COG3638	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	44	COG1116	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	COG4619	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	40	COG0488	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	61	COG3839	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	51	cd03213	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	44	COG1122	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	48	COG4674	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	42	COG4107	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	52	COG1129	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	47	COG4181	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	62	cd03227	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	45	cd03297	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	52	COG3842	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	301	COG5265	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	34	COG4138	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	577	COG2274	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	52	cd03225	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	92	cd00267	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	47	COG0396	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03226	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03235	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	51	cd03214	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	370	COG4988	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	40	COG4555	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	COG1101	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	36	COG4604	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	42	cd03293	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	45	cd03216	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03224	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	56	cd03253	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	cd03249	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	cd03252	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	49	cd03234	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	cd03245	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	58	cd03301	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	59	cd03259	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	77	cd03220	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03247	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	49	cd03266	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	56	cd03264	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	36	cd03268	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	56	cd03267	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	35	cd03269	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	63	cd03263	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	35	cd03265	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	cd03254	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	cd03300	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03295	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	COG4136	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	cd03221	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	35	cd03231	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	59	cd03229	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03290	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	107	cd03250	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	69	cd03228	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03219	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	cd03256	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03217	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	34	cd03299	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	64	cd03294	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03261	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	cd03260	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	35	cd03222	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	35	cd03218	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	COG0410	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	40	cd03251	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	59	cd03230	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	48	cd03255	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03292	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	40	cd03246	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03262	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	51	cd03223	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	56	COG1127	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	1215	COG1132	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	12	smart00382	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	47	COG1126	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	COG4161	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	COG1120	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	cd03296	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	COG4152	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	COG4133	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	53	COG1118	21536376,NP_005493
19	308153644	Disease	p.Asn935Ser	VAR_009150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009150	rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	33	cd03298	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	48	COG1117	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	45	cd03369	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	44	COG1137	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	51	cd03248	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	48	COG4525	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	71	COG4175	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	COG4598	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	COG1125	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	42	COG0411	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	66	COG1131	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	45	cd03258	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	40	COG2884	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	47	COG0444	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	cd03244	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	COG4559	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	54	COG1136	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	45	COG1135	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	54	cd03257	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	cd03289	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	36	COG3840	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	392	COG4987	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	89	COG1119	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	62	COG4608	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	COG3845	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	44	COG1121	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	50	COG4167	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	58	COG1123	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	68	cd03215	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	81	COG1134	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	51	COG1124	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	COG3638	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	46	COG1116	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	40	COG4619	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	42	COG0488	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	63	COG3839	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	53	cd03213	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	49	COG1122	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	50	COG4674	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	44	COG4107	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	54	COG1129	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	49	COG4181	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	64	cd03227	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	47	cd03297	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	54	COG3842	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	303	COG5265	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	36	COG4138	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	579	COG2274	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	54	cd03225	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	94	cd00267	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	49	COG0396	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	cd03226	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	cd03235	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	53	cd03214	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	372	COG4988	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	42	COG4555	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	COG1101	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	COG4604	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	44	cd03293	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	47	cd03216	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	cd03224	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	58	cd03253	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	40	cd03249	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	40	cd03252	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	51	cd03234	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	cd03245	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	60	cd03301	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	61	cd03259	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	79	cd03220	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	cd03247	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	51	cd03266	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	58	cd03264	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	38	cd03268	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	58	cd03267	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03269	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	65	cd03263	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03265	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	40	cd03254	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	cd03300	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	cd03295	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	40	COG4136	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	cd03221	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03231	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	61	cd03229	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	cd03290	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	109	cd03250	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	71	cd03228	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	cd03219	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	40	cd03256	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	cd03217	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	36	cd03299	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	66	cd03294	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	cd03261	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	cd03260	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03222	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	37	cd03218	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	41	COG0410	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	42	cd03251	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	61	cd03230	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	50	cd03255	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	cd03292	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	42	cd03246	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	cd03262	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	53	cd03223	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	58	COG1127	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	1217	COG1132	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	15	smart00382	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	49	COG1126	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	COG4161	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	45	COG1120	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	40	cd03296	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	39	COG4152	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	43	COG4133	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	55	COG1118	21536376,NP_005493
19	308153644	Disease	p.Ala937Val	VAR_009151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009151	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	35	cd03298	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	187	COG1117	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	190	cd03369	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	160	COG1137	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	178	cd03248	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	153	COG4525	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	188	COG4175	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	167	COG4598	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	156	COG1125	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	217	COG0411	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	212	COG1131	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	165	cd03258	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	152	COG2884	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	476	COG0444	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	198	cd03244	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	151	COG4559	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	189	COG1136	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	181	COG1135	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	423	cd03257	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	169	cd03289	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	141	COG3840	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	506	COG4987	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	219	COG1119	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	758	COG4608	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	166	COG3845	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	168	COG1121	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	163	COG4167	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	263	COG1123	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	313	cd03215	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	178	COG1134	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	263	COG1124	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	170	COG3638	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	168	COG1116	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	151	COG4619	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	214	COG0488	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	429	COG3839	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	237	cd03213	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	494	COG1122	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	173	COG4674	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	166	COG4107	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	199	COG1129	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	163	COG4181	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	1257	cd03227	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	163	cd03297	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	384	COG3842	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	416	COG5265	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	143	COG4138	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	693	COG2274	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	189	cd03225	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	1287	cd00267	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	223	COG0396	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	170	cd03226	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	162	cd03235	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	219	cd03214	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	487	COG4988	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	151	COG4555	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	162	COG1101	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	149	COG4604	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	190	cd03293	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	184	cd03216	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	169	cd03224	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	172	cd03253	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	280	cd03249	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	153	cd03252	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	191	cd03234	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	156	cd03245	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	212	cd03301	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	181	cd03259	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	181	cd03220	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	158	cd03247	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	160	cd03266	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	170	cd03264	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	150	cd03268	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	170	cd03267	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	143	cd03269	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	213	cd03263	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	145	cd03265	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	155	cd03254	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	148	cd03300	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	150	cd03295	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	150	COG4136	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	264	cd03221	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	142	cd03231	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	198	cd03229	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	165	cd03290	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	265	cd03250	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	318	cd03228	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	190	cd03219	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	166	cd03256	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	164	cd03217	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	143	cd03299	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	180	cd03294	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	155	cd03261	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	180	cd03260	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	153	cd03222	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	155	cd03218	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	173	COG0410	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	172	cd03251	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	181	cd03230	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	183	cd03255	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	151	cd03292	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	155	cd03246	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	165	cd03262	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	239	cd03223	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	174	COG1127	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	1398	COG1132	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	262	smart00382	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	171	COG1126	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	156	COG4161	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	212	COG1120	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	151	cd03296	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	144	COG4152	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	152	COG4133	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	175	COG1118	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	265	pfam00005	21536376,NP_005493
19	308153644	Disease	p.Ala1046Asp	VAR_012627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012627	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	142	cd03298	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	209	COG1117	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	212	cd03369	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	185	COG1137	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	217	cd03248	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	175	COG4525	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	210	COG4175	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	189	COG4598	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	178	COG1125	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	239	COG0411	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	235	COG1131	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	187	cd03258	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	174	COG2884	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	498	COG0444	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	222	cd03244	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	179	COG4559	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	212	COG1136	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	203	COG1135	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	445	cd03257	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	191	cd03289	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	165	COG3840	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	529	COG4987	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	241	COG1119	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	780	COG4608	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	191_G	COG3845	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	190	COG1121	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	185	COG4167	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	289	COG1123	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	340	cd03215	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	200	COG1134	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	285	COG1124	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	192	COG3638	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	190	COG1116	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	173	COG4619	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	246	COG0488	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	453	COG3839	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	259	cd03213	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	522	COG1122	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	195	COG4674	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	188	COG4107	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	227	COG1129	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	185	COG4181	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	1297	cd03227	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	185	cd03297	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	406	COG3842	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	438	COG5265	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	174	COG4138	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	715	COG2274	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	211	cd03225	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	1327	cd00267	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	245	COG0396	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	192	cd03226	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	184	cd03235	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	249	cd03214	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	510	COG4988	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	173	COG4555	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	184	COG1101	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	171	COG4604	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	212	cd03293	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	213	cd03216	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	192	cd03224	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	194	cd03253	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	302	cd03249	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	175	cd03252	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	219	cd03234	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	178	cd03245	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	234	cd03301	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	204	cd03259	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	203	cd03220	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	180	cd03247	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	182	cd03266	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	192	cd03264	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	172	cd03268	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	192	cd03267	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	165	cd03269	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	235	cd03263	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	167	cd03265	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	177	cd03254	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	170	cd03300	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	172	cd03295	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	172	COG4136	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	287	cd03221	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	164	cd03231	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	220	cd03229	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	192	cd03290	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	287	cd03250	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	343	cd03228	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	212	cd03219	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	188	cd03256	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	186	cd03217	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	165	cd03299	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	202	cd03294	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	184	cd03261	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	202	cd03260	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	175	cd03222	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	180	cd03218	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	195	COG0410	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	194	cd03251	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	206	cd03230	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	205	cd03255	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	173	cd03292	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	177	cd03246	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	187	cd03262	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	318	cd03223	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	203	COG1127	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	1422	COG1132	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	339	smart00382	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	195	COG1126	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	178	COG4161	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	234	COG1120	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	173	cd03296	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	166	COG4152	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	174	COG4133	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	197	COG1118	21536376,NP_005493
19	308153644	Disease	p.Arg1068Cys	VAR_062493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062493	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	164	cd03298	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	234	COG1117	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	235	cd03369	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	210	COG1137	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	270	cd03248	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	200	COG4525	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	235	COG4175	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	213	COG4598	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	203	COG1125	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	265	COG0411	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	261	COG1131	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	212	cd03258	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	198	COG2884	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	524	COG0444	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	246	cd03244	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	204	COG4559	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	237	COG1136	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	228	COG1135	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	471	cd03257	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	214	cd03289	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	190	COG3840	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	554	COG4987	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	267	COG1119	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	805	COG4608	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	219	COG3845	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	215	COG1121	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	210	COG4167	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	315	COG1123	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	365	cd03215	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	225	COG1134	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	310	COG1124	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	217	COG3638	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	218	COG1116	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	200	COG4619	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	272	COG0488	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	484	COG3839	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	306	cd03213	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	547	COG1122	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	218	COG4674	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	213	COG4107	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	253	COG1129	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	210	COG4181	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	1325	cd03227	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	210	cd03297	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	432	COG3842	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	463	COG5265	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	198	COG4138	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	738_G	COG2274	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	238	cd03225	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	1357	cd00267	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	280	COG0396	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	216	cd03226	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	209	cd03235	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	274	cd03214	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	534	COG4988	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	197	COG4555	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	209	COG1101	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	223	COG4604	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	240	cd03293	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	237	cd03216	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	218	cd03224	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	224	cd03253	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	329	cd03249	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	198	cd03252	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	311	cd03234	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	202	cd03245	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	259	cd03301	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	230	cd03259	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	228	cd03220	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	206	cd03247	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	209	cd03266	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	216	cd03264	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	197	cd03268	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	217	cd03267	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	189	cd03269	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	283	cd03263	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	192	cd03265	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	203	cd03254	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	195	cd03300	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	197	cd03295	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	197	COG4136	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	313	cd03221	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	187_G	cd03231	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	245	cd03229	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	213	cd03290	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	316	cd03250	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	375	cd03228	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	238	cd03219	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	217	cd03256	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	226	cd03217	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	190	cd03299	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	227	cd03294	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	218	cd03261	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	230	cd03260	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	200	cd03222	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	205	cd03218	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	221	COG0410	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	220	cd03251	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	232	cd03230	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	231	cd03255	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	197	cd03292	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	201	cd03246	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	212	cd03262	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	341	cd03223	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	230	COG1127	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	1454	COG1132	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	651	smart00382	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	220	COG1126	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	202	COG4161	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	259	COG1120	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	198	cd03296	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	190	COG4152	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	197_G	COG4133	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	222	COG1118	21536376,NP_005493
19	308153644	Disease	p.Met1091Thr	VAR_012628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012628	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	189	cd03298	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	242	COG1117	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	242	cd03369	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	218	COG1137	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	277	cd03248	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	208	COG4525	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	243	COG4175	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	221	COG4598	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	211	COG1125	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	273	COG0411	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	270	COG1131	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	220	cd03258	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	207	COG2884	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	532	COG0444	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	253	cd03244	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	212	COG4559	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	245	COG1136	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	236	COG1135	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	484	cd03257	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	221	cd03289	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	198	COG3840	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	561	COG4987	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	275	COG1119	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	813	COG4608	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	227	COG3845	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	223	COG1121	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	218	COG4167	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	323	COG1123	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	373	cd03215	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	233	COG1134	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	318	COG1124	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	225	COG3638	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	226	COG1116	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	208	COG4619	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	280	COG0488	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	492	COG3839	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	315	cd03213	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	555	COG1122	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	229	COG4674	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	221	COG4107	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	261	COG1129	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	217	COG4181	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	1341	cd03227	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	218	cd03297	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	440	COG3842	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	470	COG5265	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	206	COG4138	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	746	COG2274	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	247	cd03225	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	1374	cd00267	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	291	COG0396	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	224	cd03226	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	218	cd03235	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	282	cd03214	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	541	COG4988	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	205	COG4555	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	217	COG1101	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	231	COG4604	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	248	cd03293	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	246	cd03216	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	226	cd03224	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	231	cd03253	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	338_G	cd03249	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	205	cd03252	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	319	cd03234	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	209	cd03245	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	267	cd03301	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	239	cd03259	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	236	cd03220	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	210	cd03247	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	217	cd03266	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	224	cd03264	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	205	cd03268	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	225	cd03267	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	197	cd03269	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	291	cd03263	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	200	cd03265	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	207	cd03254	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	203	cd03300	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	205	cd03295	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	205	COG4136	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	322	cd03221	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	194	cd03231	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	253	cd03229	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	220	cd03290	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	328	cd03250	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	384	cd03228	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	247	cd03219	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	225	cd03256	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	236	cd03217	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	198	cd03299	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	235	cd03294	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	226	cd03261	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	238	cd03260	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	208	cd03222	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	213	cd03218	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	229	COG0410	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	224	cd03251	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	243	cd03230	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	240	cd03255	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	205	cd03292	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	208	cd03246	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	220	cd03262	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	354	cd03223	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	238	COG1127	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	1463	COG1132	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	667	smart00382	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	228	COG1126	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	210	COG4161	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	267	COG1120	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	206	cd03296	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	198	COG4152	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	204	COG4133	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	230	COG1118	21536376,NP_005493
19	308153644	Disease	p.Asp1099Tyr	VAR_017530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017530	rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	197	cd03298	21536376,NP_005493
19	308153644	Disease	p.Asp1289Asn	VAR_009152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009152	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	775	COG1123	21536376,NP_005493
19	308153644	Disease	p.Asp1289Asn	VAR_009152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009152	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	650	COG0488	21536376,NP_005493
19	308153644	Disease	p.Leu1379Phe	VAR_062497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062497	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	No Domain	N/A	21536376,NP_005493
19	308153644	Disease	p.Cys1477Arg	VAR_009153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009153	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	No Domain	N/A	21536376,NP_005493
19	308153644	Disease	p.Ser1506Leu	VAR_012630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012630	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	No Domain	N/A	21536376,NP_005493
19	308153644	Disease	p.Ile1517Arg	VAR_009154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009154	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	No Domain	N/A	21536376,NP_005493
19	308153644	Disease	p.Arg1680Trp	VAR_037970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037970	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	No Domain	N/A	21536376,NP_005493
19	308153644	Disease	p.Val1704Asp	VAR_062501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062501	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	No Domain	N/A	21536376,NP_005493
19	308153644	Disease	p.Asn1800His	VAR_009155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009155	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	No Domain	N/A	21536376,NP_005493
19	308153644	Disease	p.Arg1851Gln	VAR_062502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062502	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	No Domain	N/A	21536376,NP_005493
19	308153644	Disease	p.Arg1897Trp	VAR_062503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062503	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	No Domain	N/A	21536376,NP_005493
19	308153644	Disease	p.Arg1901Ser	VAR_062504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062504	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	3	COG4586	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	116	COG4778	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	145	COG1131	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	106	COG1121	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	98	cd03296	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	113	cd03219	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	120	cd03264	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	94	cd03269	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	128	cd03259	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	100	cd03268	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	128	cd03216	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	141	cd03229	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	225	cd03228	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	107	COG4161	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	151	cd03263	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	96	cd03265	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	129	cd03230	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	122	cd03255	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	112	smart00382	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	149	COG1120	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	106	pfam00005	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	138	cd03225	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	244	cd00267	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	118	cd03226	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	109	cd03235	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	167	cd03214	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	440	COG1122	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	114	cd03232	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	113	COG4107	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	144	COG4586	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	102	COG4555	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	111	cd03266	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	120	cd03233	21536376,NP_005493
19	308153644	Disease	p.Phe2009Ser	VAR_037971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037971	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	272	cd03257	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	189	COG4778	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	236	COG1131	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	191	COG1121	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	174	cd03296	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	213	cd03219	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	193	cd03264	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	166	cd03269	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	205	cd03259	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	173	cd03268	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	213	cd03216	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	221	cd03229	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	344	cd03228	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	179	COG4161	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	236	cd03263	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	168	cd03265	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	207	cd03230	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	206	cd03255	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	345	smart00382	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	235	COG1120	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	212	cd03225	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	1328	cd00267	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	193	cd03226	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	185	cd03235	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	250	cd03214	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	523	COG1122	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	209	cd03232	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	189	COG4107	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	220	COG4586	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	174	COG4555	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	183	cd03266	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	233	cd03233	21536376,NP_005493
19	308153644	Disease	p.Arg2081Trp	VAR_012635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012635	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	446	cd03257	21536376,NP_005493
19	308153644	Disease	p.Pro2150Leu	VAR_012636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012636	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	328	COG1131	21536376,NP_005493
19	308153644	Disease	p.Pro2150Leu	VAR_012636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012636	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	266	COG1121	21536376,NP_005493
19	308153644	Disease	p.Pro2150Leu	VAR_012636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012636	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	374	COG1120	21536376,NP_005493
19	308153644	Disease	p.Pro2150Leu	VAR_012636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012636	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	284	COG4586	21536376,NP_005493
19	308153644	Disease	p.Pro2150Leu	VAR_012636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012636	- High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]	SWISS	246	COG4555	21536376,NP_005493
19	308153644	Disease	p.Gln2196His	VAR_062507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062507	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	400	COG1131	21536376,NP_005493
19	308153644	Disease	p.Gln2196His	VAR_062507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062507	- High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]	SWISS	329	COG4586	21536376,NP_005493
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	61	COG3839	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	41	COG3638	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	52	COG3842	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	41	COG4598	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	47	COG4181	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	69	COG4175	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	36	COG4604	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	40	COG4555	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	370	COG4988	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	48	COG4674	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	34	COG3840	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	38	COG2884	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	36	COG4559	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	37	COG4161	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	41	COG4133	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	38	COG4136	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	577	COG2274	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	41	COG3845	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	60	COG4608	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	34	COG4138	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	42	COG4107	30795238,NP_775099
26154	269849713	Disease	p.Asn1380Ser	VAR_019598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019598	rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	12	smart00382	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	62	COG3839	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	42	COG3638	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	53	COG3842	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	42	COG4598	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	48	COG4181	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	70	COG4175	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	37	COG4604	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	41	COG4555	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	371	COG4988	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	49	COG4674	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	35	COG3840	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	39	COG2884	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	37	COG4559	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	38	COG4161	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	42	COG4133	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	39	COG4136	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	578	COG2274	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	42	COG3845	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	61	COG4608	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	35	COG4138	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	43	COG4107	30795238,NP_775099
26154	269849713	Disease	p.Gly1381Glu	VAR_019599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019599	rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	13	smart00382	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	453	COG3839	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	192	COG3638	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	406	COG3842	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	189	COG4598	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	185	COG4181	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	210	COG4175	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	171	COG4604	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	173	COG4555	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	510	COG4988	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	195	COG4674	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	165	COG3840	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	174	COG2884	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	179	COG4559	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	178	COG4161	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	174	COG4133	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	172	COG4136	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	715	COG2274	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	194	COG3845	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	780	COG4608	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	174	COG4138	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	188	COG4107	30795238,NP_775099
26154	269849713	Disease	p.Arg1514His	VAR_019600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019600	rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	339	smart00382	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	486	COG3839	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	219	COG3638	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	434	COG3842	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	215	COG4598	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	212	COG4181	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	237	COG4175	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	198	COG4604	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	199	COG4555	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	536	COG4988	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	220	COG4674	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	192	COG3840	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	200	COG2884	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	206	COG4559	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	204	COG4161	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	200	COG4133	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	199	COG4136	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	741	COG2274	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	221	COG3845	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	807	COG4608	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	200	COG4138	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	215	COG4107	30795238,NP_775099
26154	269849713	Disease	p.Glu1539Lys	VAR_019601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019601	rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	652	smart00382	30795238,NP_775099
26154	269849713	Disease	p.Gly1651Ser	VAR_019602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019602	rs28940568 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	628	COG3842	30795238,NP_775099
26154	269849713	Disease	p.Gly1651Ser	VAR_019602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019602	rs28940568 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	364_G	COG4175	30795238,NP_775099
26154	269849713	Disease	p.Gly1651Ser	VAR_019602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019602	rs28940568 Ichthyosis lamellar type 2 (LI2) [MIM:601277]	SWISS	465	COG3845	30795238,NP_775099
26154	269849713	Disease	p.Asp2365Asn	VAR_027449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027449	rs726070 Ichthyosis harlequin (HI) [MIM:242500]	SWISS	120	COG4170	30795238,NP_775099
26154	269849713	Disease	p.Asp2365Asn	VAR_027449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027449	rs726070 Ichthyosis harlequin (HI) [MIM:242500]	SWISS	114	COG4525	30795238,NP_775099
26154	269849713	Disease	p.Asp2365Asn	VAR_027449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027449	rs726070 Ichthyosis harlequin (HI) [MIM:242500]	SWISS	108	COG4619	30795238,NP_775099
26154	269849713	Disease	p.Asp2365Asn	VAR_027449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027449	rs726070 Ichthyosis harlequin (HI) [MIM:242500]	SWISS	155	COG4586	30795238,NP_775099
26154	269849713	Disease	p.Asp2365Asn	VAR_027449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027449	rs726070 Ichthyosis harlequin (HI) [MIM:242500]	SWISS	127	COG4778	30795238,NP_775099
26154	269849713	Disease	p.Asp2365Asn	VAR_027449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027449	rs726070 Ichthyosis harlequin (HI) [MIM:242500]	SWISS	194	pfam00005	30795238,NP_775099
26154	269849713	Disease	p.Asp2365Asn	VAR_027449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027449	rs726070 Ichthyosis harlequin (HI) [MIM:242500]	SWISS	127	COG4107	30795238,NP_775099
26154	269849713	Disease	p.Asp2365Asn	VAR_027449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027449	rs726070 Ichthyosis harlequin (HI) [MIM:242500]	SWISS	106	COG4152	30795238,NP_775099
26154	269849713	Disease	p.Asp2365Asn	VAR_027449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027449	rs726070 Ichthyosis harlequin (HI) [MIM:242500]	SWISS	113	COG4555	30795238,NP_775099
26154	269849713	Disease	p.Asp2365Asn	VAR_027449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027449	rs726070 Ichthyosis harlequin (HI) [MIM:242500]	SWISS	124	COG4167	30795238,NP_775099
26154	269849713	Disease	p.Asp2365Asn	VAR_027449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027449	rs726070 Ichthyosis harlequin (HI) [MIM:242500]	SWISS	221	smart00382	30795238,NP_775099
26154	269849713	Disease	p.Asp2365Asn	VAR_027449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027449	rs726070 Ichthyosis harlequin (HI) [MIM:242500]	SWISS	118	COG4161	30795238,NP_775099
21	85700402	Disease	p.Leu101Pro	VAR_023497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023497	rs28936412 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	No Domain	N/A	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	41	cd03245	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	62	cd03227	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	56	COG1127	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	41	COG4598	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	52	cd03232	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	55	cd03233	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	49	cd03248	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	42	COG4107	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	42	COG1137	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	46	COG1117	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	34	COG3840	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	51	cd03213	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	52	COG1129	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	46	COG4172	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	87	COG1119	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	48	COG4167	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	69	COG4175	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	47	COG4181	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	56	COG1123	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	41	COG3845	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	60	COG4608	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	64	COG1131	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	37	cd03290	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	45	cd03297	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	38	COG4619	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	390	COG4987	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	33	COG4148	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	33	cd03298	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	37	cd03226	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	51	cd03214	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	37	cd03235	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	38	COG4136	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	92	cd00267	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	52	cd03225	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	34	COG4138	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	48	COG4674	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	1215	COG1132	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	66	cd03215	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	52	COG1136	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	45	COG0444	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	40	COG0411	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	41	COG1125	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	52	cd03257	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	43	COG1135	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	36	COG4559	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	43	cd03258	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	34	cd03237	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	35	cd03231	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	577	COG2274	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	372	COG4615	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	12	smart00382	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	49	COG1124	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	61	COG3839	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	40	COG0488	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	44	COG1116	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	39	COG0410	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	52	COG3842	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	42	COG4170	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	79	COG1134	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	41	COG3638	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	47	COG0396	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	46	COG4525	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	72	COG4586	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	370	COG4988	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	41	COG1101	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	37	cd03219	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	51	cd03223	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	39	cd03300	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	35	cd03218	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	40	COG4555	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	64	cd03294	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	38	cd03256	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	34	cd03299	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	40	cd03251	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	43	cd03369	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	37	cd03292	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	42	cd03293	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	59	cd03230	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	40	cd03246	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	37	cd03262	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	48	cd03255	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	36	COG4604	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	37	cd03295	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	37	cd03261	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	37	cd03217	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	107	cd03250	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	41	cd03221	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	69	cd03228	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	59	cd03229	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	56	cd03253	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	37	cd03224	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	35	cd03265	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	63	cd03263	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	45	cd03216	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	38	cd03252	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	44	COG1122	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	39	cd03260	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	37	cd03247	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	49	cd03234	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	59	cd03259	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	49	cd03266	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	35	cd03269	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	36	cd03268	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	56	cd03264	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	58	cd03301	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	77	cd03220	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	56	cd03267	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	38	cd03249	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	41	cd03244	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	53	COG1118	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	43	COG1120	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	39	cd03289	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	41	COG4133	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	38	cd03254	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	38	cd03296	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	37	COG4161	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	47	COG1126	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	42	COG1121	116734710,NP_001080
21	85700402	Disease	p.Asn568Asp	VAR_023498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023498	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	37	COG4152	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	176_G	cd03222	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	192	COG4107	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	1330	cd00267	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	214	cd03225	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	187	cd03235	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	347	smart00382	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	195	cd03226	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	252	cd03214	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	222	cd03234	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	262	cd03213	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	238	COG1131	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	448	cd03257	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	215	COG1136	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	546	COG4618	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	191	COG4778	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	244	COG1119	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	193	COG1121	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	178	COG2884	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	169	COG4152	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	176	cd03296	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	237	COG1120	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	181	COG4161	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	525	COG1122	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	346	cd03228	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	223	cd03229	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	290	cd03221	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	215	cd03216	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	195	cd03224	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	170	cd03265	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	238	cd03263	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	187	cd03261	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	176	COG4555	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	183	cd03218	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	215	cd03293	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	215	cd03219	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	237	cd03301	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	185	cd03266	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	175	cd03268	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	207	cd03259	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	168	cd03269	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	195	cd03264	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	208	cd03255	116734710,NP_001080
21	85700402	Disease	p.Leu1553Pro	VAR_023499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023499	- Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	209	cd03230	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	216	cd03222	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	230	COG4107	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	226	cd03235	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	675	smart00382	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	233	cd03226	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	322	cd03214	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	329	cd03234	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	325	cd03213	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	287	COG1131	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	493	cd03257	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	254	COG1136	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	583	COG4618	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	232	COG4778	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	284	COG1119	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	232	COG1121	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	216	COG2884	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	207	COG4152	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	215	cd03296	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	310	COG1120	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	219	COG4161	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	564	COG1122	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	255	cd03216	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	235	cd03224	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	209	cd03265	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	301	cd03263	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	235	cd03261	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	214	COG4555	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	222	cd03218	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	265	cd03293	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	256	cd03219	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	276	cd03301	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	226	cd03266	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	214	cd03268	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	250	cd03259	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	206	cd03269	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	233	cd03264	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	249	cd03255	116734710,NP_001080
21	85700402	Disease	p.Gln1591Pro	VAR_023500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023500	rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]	SWISS	252	cd03230	116734710,NP_001080
24	6707663	Disease	p.Leu11Pro	VAR_012493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012493	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg18Trp	VAR_008398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008398	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg24His	VAR_008399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008399	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Cys54Tyr	VAR_008400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008400	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Asn58Lys	VAR_012495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ala60Glu	VAR_012496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012496	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ala60Thr	VAR_012497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012497	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ala60Val	VAR_008492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008492	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Gly65Glu	VAR_008401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008401	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Gly65Glu	VAR_008401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008401	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Pro68Leu	VAR_012498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012498	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Pro68Arg	VAR_012499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012499	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Gly72Arg	VAR_012500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012500	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Cys75Gly	VAR_008402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008402	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Val77Glu	VAR_012501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012501	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Asn96Asp	VAR_008403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008403	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Asn96His	VAR_008404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008404	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ser100Pro	VAR_012502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012502	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ile156Val	VAR_012504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012504	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Gln190His	VAR_012505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012505	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ala192Thr	VAR_008405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008405	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ser206Arg	VAR_012506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012506	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg212Cys	VAR_008406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008406	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg212Cys	VAR_008406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008406	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg220Cys	VAR_012508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012508	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Cys230Ser	VAR_012509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012509	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Leu244Pro	VAR_012510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012510	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Asn247Ser	VAR_012511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012511	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Asp249Gly	VAR_008407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008407	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Thr300Asn	VAR_008408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008408	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Pro309Arg	VAR_012512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012512	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Glu328Val	VAR_012513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012513	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg333Trp	VAR_012514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012514	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ser336Cys	VAR_008409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008409	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Trp339Gly	VAR_012515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012515	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Tyr340Asp	VAR_008410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008410	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Asn380Lys	VAR_012516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012516	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ala407Val	VAR_008411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008411	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ala407Val	VAR_008411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008411	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ser445Arg	VAR_008412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008412	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Glu471Lys	VAR_008413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008413	rs1800548 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Glu471Lys	VAR_008413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008413	rs1800548 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Asp523Glu	VAR_008414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008414	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	COG2274	105990541,NP_000341
24	6707663	Disease	p.Phe525Cys	VAR_012518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012518	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	39	COG2274	105990541,NP_000341
24	6707663	Disease	p.Arg537Cys	VAR_012519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012519	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	COG2274	105990541,NP_000341
24	6707663	Disease	p.Leu541Pro	VAR_008415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008415	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	61	COG2274	105990541,NP_000341
24	6707663	Disease	p.Leu541Pro	VAR_008415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008415	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	61	COG2274	105990541,NP_000341
24	6707663	Disease	p.Leu541Pro	VAR_008415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008415	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	COG2274	105990541,NP_000341
24	6707663	Disease	p.Ala549Pro	VAR_012520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012520	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	69	COG2274	105990541,NP_000341
24	6707663	Disease	p.Gly550Arg	VAR_012521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012521	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	70	COG2274	105990541,NP_000341
24	6707663	Disease	p.Arg572Pro	VAR_008416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008416	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	97	COG2274	105990541,NP_000341
24	6707663	Disease	p.Arg572Gln	VAR_008417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008417	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	97	COG2274	105990541,NP_000341
24	6707663	Disease	p.Arg602Gln	VAR_012523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012523	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	COG2274	105990541,NP_000341
24	6707663	Disease	p.Arg602Gln	VAR_012523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012523	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	COG1132	105990541,NP_000341
24	6707663	Disease	p.Arg602Trp	VAR_008418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008418	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	COG2274	105990541,NP_000341
24	6707663	Disease	p.Arg602Trp	VAR_008418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008418	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	COG1132	105990541,NP_000341
24	6707663	Disease	p.Gly607Arg	VAR_012524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012524	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	156	COG2274	105990541,NP_000341
24	6707663	Disease	p.Gly607Arg	VAR_012524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012524	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	10	COG1132	105990541,NP_000341
24	6707663	Disease	p.Gly607Trp	VAR_012525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012525	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	156	COG2274	105990541,NP_000341
24	6707663	Disease	p.Gly607Trp	VAR_012525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012525	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	10	COG1132	105990541,NP_000341
24	6707663	Disease	p.Phe608Ile	VAR_008419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008419	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	157	COG2274	105990541,NP_000341
24	6707663	Disease	p.Phe608Ile	VAR_008419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008419	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	11	COG1132	105990541,NP_000341
24	6707663	Disease	p.Gln635Lys	VAR_012526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012526	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	COG2274	105990541,NP_000341
24	6707663	Disease	p.Gln635Lys	VAR_012526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012526	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	63	COG1132	105990541,NP_000341
24	6707663	Disease	p.Gln636His	VAR_012527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012527	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	COG2274	105990541,NP_000341
24	6707663	Disease	p.Gln636His	VAR_012527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012527	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	64	COG1132	105990541,NP_000341
24	6707663	Disease	p.Val643Met	VAR_012528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012528	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	189	COG2274	105990541,NP_000341
24	6707663	Disease	p.Val643Met	VAR_012528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012528	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	104	COG1132	105990541,NP_000341
24	6707663	Disease	p.Asp645Asn	VAR_008421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008421	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	191	COG2274	105990541,NP_000341
24	6707663	Disease	p.Asp645Asn	VAR_008421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008421	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	COG1132	105990541,NP_000341
24	6707663	Disease	p.Arg653Cys	VAR_012529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012529	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	9	COG4615	105990541,NP_000341
24	6707663	Disease	p.Arg653Cys	VAR_012529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012529	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	196_G	COG2274	105990541,NP_000341
24	6707663	Disease	p.Arg653Cys	VAR_012529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012529	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	281	COG1132	105990541,NP_000341
24	6707663	Disease	p.Leu686Ser	VAR_012530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012530	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	13	COG4987	105990541,NP_000341
24	6707663	Disease	p.Leu686Ser	VAR_012530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012530	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	COG4615	105990541,NP_000341
24	6707663	Disease	p.Leu686Ser	VAR_012530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012530	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	COG5265	105990541,NP_000341
24	6707663	Disease	p.Leu686Ser	VAR_012530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012530	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	229	COG2274	105990541,NP_000341
24	6707663	Disease	p.Leu686Ser	VAR_012530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012530	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	321	COG1132	105990541,NP_000341
24	6707663	Disease	p.Thr716Met	VAR_012531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012531	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	67	COG4987	105990541,NP_000341
24	6707663	Disease	p.Thr716Met	VAR_012531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012531	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	74	COG4615	105990541,NP_000341
24	6707663	Disease	p.Thr716Met	VAR_012531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012531	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	42	COG5265	105990541,NP_000341
24	6707663	Disease	p.Thr716Met	VAR_012531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012531	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	259	COG2274	105990541,NP_000341
24	6707663	Disease	p.Thr716Met	VAR_012531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012531	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	401	COG1132	105990541,NP_000341
24	6707663	Disease	p.Thr716Met	VAR_012531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012531	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	28	COG4988	105990541,NP_000341
24	6707663	Disease	p.Cys764Tyr	VAR_012532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012532	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	COG4987	105990541,NP_000341
24	6707663	Disease	p.Cys764Tyr	VAR_012532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012532	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	158	COG4615	105990541,NP_000341
24	6707663	Disease	p.Cys764Tyr	VAR_012532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012532	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92_G	COG5265	105990541,NP_000341
24	6707663	Disease	p.Cys764Tyr	VAR_012532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012532	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	339	COG2274	105990541,NP_000341
24	6707663	Disease	p.Cys764Tyr	VAR_012532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012532	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	570	COG1132	105990541,NP_000341
24	6707663	Disease	p.Cys764Tyr	VAR_012532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012532	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	105	COG4988	105990541,NP_000341
24	6707663	Disease	p.Ser765Asn	VAR_012534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012534	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	COG4987	105990541,NP_000341
24	6707663	Disease	p.Ser765Asn	VAR_012534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012534	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	159	COG4615	105990541,NP_000341
24	6707663	Disease	p.Ser765Asn	VAR_012534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012534	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92_G	COG5265	105990541,NP_000341
24	6707663	Disease	p.Ser765Asn	VAR_012534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012534	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	340	COG2274	105990541,NP_000341
24	6707663	Disease	p.Ser765Asn	VAR_012534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012534	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	571	COG1132	105990541,NP_000341
24	6707663	Disease	p.Ser765Asn	VAR_012534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012534	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	COG4988	105990541,NP_000341
24	6707663	Disease	p.Ser765Arg	VAR_012533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012533	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	COG4987	105990541,NP_000341
24	6707663	Disease	p.Ser765Arg	VAR_012533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012533	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	159	COG4615	105990541,NP_000341
24	6707663	Disease	p.Ser765Arg	VAR_012533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012533	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92_G	COG5265	105990541,NP_000341
24	6707663	Disease	p.Ser765Arg	VAR_012533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012533	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	340	COG2274	105990541,NP_000341
24	6707663	Disease	p.Ser765Arg	VAR_012533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012533	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	571	COG1132	105990541,NP_000341
24	6707663	Disease	p.Ser765Arg	VAR_012533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012533	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	COG4988	105990541,NP_000341
24	6707663	Disease	p.Val767Asp	VAR_012535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012535	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	179	COG4987	105990541,NP_000341
24	6707663	Disease	p.Val767Asp	VAR_012535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012535	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	161	COG4615	105990541,NP_000341
24	6707663	Disease	p.Val767Asp	VAR_012535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012535	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	93	COG5265	105990541,NP_000341
24	6707663	Disease	p.Val767Asp	VAR_012535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012535	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	342	COG2274	105990541,NP_000341
24	6707663	Disease	p.Val767Asp	VAR_012535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012535	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	573	COG1132	105990541,NP_000341
24	6707663	Disease	p.Val767Asp	VAR_012535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012535	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	108	COG4988	105990541,NP_000341
24	6707663	Disease	p.Leu797Pro	VAR_012536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012536	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	210	COG4987	105990541,NP_000341
24	6707663	Disease	p.Leu797Pro	VAR_012536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012536	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	191	COG4615	105990541,NP_000341
24	6707663	Disease	p.Leu797Pro	VAR_012536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012536	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	121	COG5265	105990541,NP_000341
24	6707663	Disease	p.Leu797Pro	VAR_012536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012536	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	373	COG2274	105990541,NP_000341
24	6707663	Disease	p.Leu797Pro	VAR_012536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012536	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	645	COG1132	105990541,NP_000341
24	6707663	Disease	p.Leu797Pro	VAR_012536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012536	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	COG4988	105990541,NP_000341
24	6707663	Disease	p.Gly818Glu	VAR_008422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008422	- Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	234	COG4987	105990541,NP_000341
24	6707663	Disease	p.Gly818Glu	VAR_008422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008422	- Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	222	COG4615	105990541,NP_000341
24	6707663	Disease	p.Gly818Glu	VAR_008422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008422	- Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	154	COG5265	105990541,NP_000341
24	6707663	Disease	p.Gly818Glu	VAR_008422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008422	- Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	400	COG2274	105990541,NP_000341
24	6707663	Disease	p.Gly818Glu	VAR_008422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008422	- Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	683	COG1132	105990541,NP_000341
24	6707663	Disease	p.Gly818Glu	VAR_008422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008422	- Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	212	COG4988	105990541,NP_000341
24	6707663	Disease	p.Gly818Glu	VAR_008422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008422	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	234	COG4987	105990541,NP_000341
24	6707663	Disease	p.Gly818Glu	VAR_008422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008422	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	222	COG4615	105990541,NP_000341
24	6707663	Disease	p.Gly818Glu	VAR_008422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008422	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	154	COG5265	105990541,NP_000341
24	6707663	Disease	p.Gly818Glu	VAR_008422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008422	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	400	COG2274	105990541,NP_000341
24	6707663	Disease	p.Gly818Glu	VAR_008422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008422	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	683	COG1132	105990541,NP_000341
24	6707663	Disease	p.Gly818Glu	VAR_008422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008422	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	COG4988	105990541,NP_000341
24	6707663	Disease	p.Trp821Arg	VAR_008423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008423	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	237	COG4987	105990541,NP_000341
24	6707663	Disease	p.Trp821Arg	VAR_008423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008423	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	COG4615	105990541,NP_000341
24	6707663	Disease	p.Trp821Arg	VAR_008423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008423	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	157	COG5265	105990541,NP_000341
24	6707663	Disease	p.Trp821Arg	VAR_008423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008423	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	403	COG2274	105990541,NP_000341
24	6707663	Disease	p.Trp821Arg	VAR_008423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008423	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	686	COG1132	105990541,NP_000341
24	6707663	Disease	p.Trp821Arg	VAR_008423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008423	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	215	COG4988	105990541,NP_000341
24	6707663	Disease	p.Ile824Thr	VAR_012537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012537	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	240	COG4987	105990541,NP_000341
24	6707663	Disease	p.Ile824Thr	VAR_012537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012537	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	228	COG4615	105990541,NP_000341
24	6707663	Disease	p.Ile824Thr	VAR_012537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012537	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	160	COG5265	105990541,NP_000341
24	6707663	Disease	p.Ile824Thr	VAR_012537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012537	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	406	COG2274	105990541,NP_000341
24	6707663	Disease	p.Ile824Thr	VAR_012537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012537	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	689	COG1132	105990541,NP_000341
24	6707663	Disease	p.Ile824Thr	VAR_012537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012537	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	218	COG4988	105990541,NP_000341
24	6707663	Disease	p.Val849Ala	VAR_012538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012538	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	268	COG4987	105990541,NP_000341
24	6707663	Disease	p.Val849Ala	VAR_012538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012538	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	249	COG4615	105990541,NP_000341
24	6707663	Disease	p.Val849Ala	VAR_012538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012538	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	181	COG5265	105990541,NP_000341
24	6707663	Disease	p.Val849Ala	VAR_012538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012538	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	428	COG2274	105990541,NP_000341
24	6707663	Disease	p.Val849Ala	VAR_012538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012538	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	771	COG1132	105990541,NP_000341
24	6707663	Disease	p.Val849Ala	VAR_012538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012538	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	235	COG4988	105990541,NP_000341
24	6707663	Disease	p.Gly851Asp	VAR_008424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008424	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	270	COG4987	105990541,NP_000341
24	6707663	Disease	p.Gly851Asp	VAR_008424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008424	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	251	COG4615	105990541,NP_000341
24	6707663	Disease	p.Gly851Asp	VAR_008424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008424	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	183	COG5265	105990541,NP_000341
24	6707663	Disease	p.Gly851Asp	VAR_008424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008424	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	430	COG2274	105990541,NP_000341
24	6707663	Disease	p.Gly851Asp	VAR_008424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008424	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	773	COG1132	105990541,NP_000341
24	6707663	Disease	p.Gly851Asp	VAR_008424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008424	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	240	COG4988	105990541,NP_000341
24	6707663	Disease	p.Ala854Thr	VAR_012539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012539	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	273	COG4987	105990541,NP_000341
24	6707663	Disease	p.Ala854Thr	VAR_012539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012539	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	259	COG4615	105990541,NP_000341
24	6707663	Disease	p.Ala854Thr	VAR_012539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012539	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	COG5265	105990541,NP_000341
24	6707663	Disease	p.Ala854Thr	VAR_012539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012539	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	433	COG2274	105990541,NP_000341
24	6707663	Disease	p.Ala854Thr	VAR_012539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012539	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	776	COG1132	105990541,NP_000341
24	6707663	Disease	p.Ala854Thr	VAR_012539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012539	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	243	COG4988	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	VAR_008425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008425	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	282	COG4987	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	VAR_008425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008425	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	267_G	COG4615	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	VAR_008425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008425	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	195	COG5265	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	VAR_008425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008425	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	464	COG2274	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	VAR_008425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008425	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	789	COG1132	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	VAR_008425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008425	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	252	COG4988	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	VAR_008425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008425	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	282	COG4987	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	VAR_008425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008425	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	267_G	COG4615	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	VAR_008425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008425	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	195	COG5265	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	VAR_008425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008425	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	464	COG2274	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	VAR_008425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008425	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	789	COG1132	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	VAR_008425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008425	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	252	COG4988	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	VAR_008425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008425	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	282	COG4987	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	VAR_008425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008425	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	267_G	COG4615	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	VAR_008425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008425	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	COG5265	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	VAR_008425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008425	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	464	COG2274	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	VAR_008425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008425	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	789	COG1132	105990541,NP_000341
24	6707663	Disease	p.Gly863Ala	VAR_008425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008425	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	252	COG4988	105990541,NP_000341
24	6707663	Disease	p.Phe873Leu	VAR_012541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012541	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	292	COG4987	105990541,NP_000341
24	6707663	Disease	p.Phe873Leu	VAR_012541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012541	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	279	COG4615	105990541,NP_000341
24	6707663	Disease	p.Phe873Leu	VAR_012541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012541	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	208	COG5265	105990541,NP_000341
24	6707663	Disease	p.Phe873Leu	VAR_012541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012541	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	474	COG2274	105990541,NP_000341
24	6707663	Disease	p.Phe873Leu	VAR_012541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012541	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	840	COG1132	105990541,NP_000341
24	6707663	Disease	p.Phe873Leu	VAR_012541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012541	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	279	COG4988	105990541,NP_000341
24	6707663	Disease	p.Thr897Ile	VAR_012542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012542	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	332	COG4987	105990541,NP_000341
24	6707663	Disease	p.Thr897Ile	VAR_012542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012542	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	11	COG1119	105990541,NP_000341
24	6707663	Disease	p.Thr897Ile	VAR_012542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012542	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	304	COG4615	105990541,NP_000341
24	6707663	Disease	p.Thr897Ile	VAR_012542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012542	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	233	COG5265	105990541,NP_000341
24	6707663	Disease	p.Thr897Ile	VAR_012542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012542	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	490	COG2274	105990541,NP_000341
24	6707663	Disease	p.Thr897Ile	VAR_012542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012542	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	921	COG1132	105990541,NP_000341
24	6707663	Disease	p.Thr897Ile	VAR_012542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012542	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	9	cd03291	105990541,NP_000341
24	6707663	Disease	p.Thr897Ile	VAR_012542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012542	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	303	COG4988	105990541,NP_000341
24	6707663	Disease	p.Thr897Ile	VAR_012542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012542	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	12	COG4586	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	356	COG4987	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	COG1119	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	335	COG4615	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	267	COG5265	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	542	COG2274	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	6	COG4619	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	6	COG3839	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	COG4525	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	6	COG1122	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	10	COG4107	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	18	COG1129	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	6	COG0488	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	6	COG1116	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	8	COG3842	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	6	COG1124	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	6	COG3638	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1064	COG1132	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	COG1134	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	15	COG1123	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	9	COG4598	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	11	COG4181	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	13	cd03234	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	22	COG1127	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	COG4161	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	4	cd03257	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	cd03296	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	12	COG1136	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	4	COG2884	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	4	COG1135	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	4	cd03258	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	4	COG1125	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	4	COG1131	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	4	COG4559	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03251	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03223	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03219	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	9	cd03369	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03231	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03216	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03260	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	4	COG4555	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03294	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03253	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03229	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03250	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03221	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03228	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03290	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03255	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03292	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03246	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03230	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03262	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03256	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03217	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	4	cd03266	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03220	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03267	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03301	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03268	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03247	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03259	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03264	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03269	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03263	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03265	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03252	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03295	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03293	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03300	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	COG4136	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	4	COG4604	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	4	COG1101	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03218	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03261	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	COG1120	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	10	COG1137	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	COG1126	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	cd03213	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	cd03244	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	COG4133	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	COG4608	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	COG4175	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	10	COG1117	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	COG1118	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	COG1121	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	COG3845	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	COG4152	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	8	COG0411	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	42	cd03291	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	COG4167	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	2	cd03226	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	2	cd03225	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	2	cd00267	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	2	cd03235	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	2	cd03214	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	6	COG0396	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	335	COG4988	105990541,NP_000341
24	6707663	Disease	p.Val931Met	VAR_008427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008427	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	COG4586	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	360	COG4987	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	63_G	COG1119	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	339	COG4615	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	271	COG5265	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	546	COG2274	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	10	COG4619	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	10	COG3839	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	11	COG4525	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	10	COG1122	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	14	COG4107	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	22	COG1129	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	10	COG0488	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	10	COG1116	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	19	COG3842	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	10	COG1124	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	10	COG3638	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1068	COG1132	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	COG1134	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	19	COG1123	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	13	COG4598	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	15	COG4181	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	17	cd03234	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	26	COG1127	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	4	cd03298	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03297	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	COG3840	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	9	COG4161	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	8	cd03257	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	9	cd03296	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	16	COG1136	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	8	COG2884	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	8	COG1135	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	8	cd03258	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	8	COG1125	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	11	COG1131	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	8	COG4559	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03251	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	6	cd03223	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03219	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	13	cd03369	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03231	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03216	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03260	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	8	COG4555	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03294	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03253	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03229	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03250	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03221	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03228	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03290	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03255	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03292	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03246	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03230	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03262	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03256	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03217	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	8	cd03266	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03220	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03267	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03301	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03268	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03247	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03259	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03264	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03269	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03263	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03265	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03252	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03295	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03293	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03300	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	9	COG4136	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	8	COG4604	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	8	COG1101	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03218	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03261	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	4	cd03215	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	9	COG1120	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	14	COG1137	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	9	COG1126	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	9	cd03213	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	9	cd03244	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	8_G	COG4133	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	11	COG4608	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	11	COG4175	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	14	COG1117	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	9	COG1118	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	11	COG1121	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	11	COG3845	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	9	COG4152	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	12	COG0411	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	12	cd03248	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	9	COG0444	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	9	cd03245	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03291	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	11	COG4167	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	6	cd03226	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	6	cd03225	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	6	cd00267	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	6	cd03235	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	6	cd03214	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	11	COG0396	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	339	COG4988	105990541,NP_000341
24	6707663	Disease	p.Val935Ala	VAR_012544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012544	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	COG4586	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	368	COG4987	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	16	cd03249	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	12	cd03224	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	16	cd03254	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	17	COG0410	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	65	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	348	COG4615	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	279	COG5265	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	554	COG2274	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	16	COG4619	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	18	COG3839	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	24	COG4525	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	22	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	20	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	30	COG1129	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	18	COG0488	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	22	COG1116	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	29	COG3842	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	27	COG1124	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	19	COG3638	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	1166	COG1132	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	7	cd03227	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	57	COG1134	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	29	COG1123	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	18	COG4598	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	22	COG4181	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	27	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	34	COG1127	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	12	cd03298	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	9	cd03297	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	13	COG3840	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	15	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	16	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	16	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	30	COG1136	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	16	COG2884	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	17	COG1135	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	16	cd03258	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	19	COG1125	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	41	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	14	COG4559	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	26	COG4674	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	8	cd03222	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	18	cd03251	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	29	cd03223	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	13_G	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	21	cd03369	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	13	cd03231	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	23	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	17	cd03260	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	19	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	15	cd03294	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	34	cd03253	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	37	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	85	cd03250	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	19	cd03221	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	47	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	15	cd03290	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	19	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	15	cd03292	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	18	cd03246	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	15	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	15	cd03262	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	16	cd03256	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	13	cd03217	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	16	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	55	cd03220	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	34	cd03267	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	36	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	14	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	15	cd03247	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	15	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	34	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	13	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	40	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	13	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	16	cd03252	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	15	cd03295	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	20	cd03293	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	17	cd03300	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	16	COG4136	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	14	COG4604	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	19	COG1101	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	13	cd03218	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	13	cd03261	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	12	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	20	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	20	COG1137	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	22	COG1126	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	29	cd03213	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	19	cd03244	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	15	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	19	COG4608	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	35	COG4175	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	24	COG1117	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	15	COG1118	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	17	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	19	COG3845	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	16_G	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	19_G	COG0411	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	24	cd03248	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	23	COG0444	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	19	cd03245	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	50	cd03291	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	12	COG4148	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	23	COG4167	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	15	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	30	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	46	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	14	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	28	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	25	COG0396	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	347	COG4988	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	50	COG4586	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	368	COG4987	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	16	cd03249	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	12	cd03224	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	16	cd03254	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	17	COG0410	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	348	COG4615	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	279	COG5265	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	554	COG2274	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	16	COG4619	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	18	COG3839	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	24	COG4525	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	22	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	20	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	30	COG1129	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	18	COG0488	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	22	COG1116	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	COG3842	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	27	COG1124	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	19	COG3638	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1166	COG1132	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03227	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	57	COG1134	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	COG1123	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	18	COG4598	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	22	COG4181	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	27	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	34	COG1127	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	12	cd03298	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	9	cd03297	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	13	COG3840	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	15	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	16	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	16	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	30	COG1136	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	16	COG2884	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	17	COG1135	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	16	cd03258	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	19	COG1125	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	14	COG4559	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	26	COG4674	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	8	cd03222	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	18	cd03251	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	cd03223	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	13_G	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	21	cd03369	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	13	cd03231	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	23	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	17	cd03260	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	19	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	15	cd03294	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	34	cd03253	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	85	cd03250	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	19	cd03221	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	15	cd03290	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	19	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	15	cd03292	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	18	cd03246	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	15	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	15	cd03262	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	16	cd03256	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	13	cd03217	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	16	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	cd03220	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	34	cd03267	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	36	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	14	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	15	cd03247	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	15	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	34	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	13	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	13	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	16	cd03252	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	15	cd03295	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	20	cd03293	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	17	cd03300	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	16	COG4136	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	14	COG4604	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	19	COG1101	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	13	cd03218	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	13	cd03261	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	12	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	20	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	20	COG1137	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	22	COG1126	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	cd03213	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	19	cd03244	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	15	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	19	COG4608	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	35	COG4175	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	24	COG1117	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	15	COG1118	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	17	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	19	COG3845	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	16_G	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	19_G	COG0411	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	24	cd03248	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	23	COG0444	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	19	cd03245	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03291	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	12	COG4148	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	23	COG4167	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	15	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	30	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	14	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	28	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	25	COG0396	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	347	COG4988	105990541,NP_000341
24	6707663	Disease	p.Arg943Trp	VAR_012545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012545	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	COG4586	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	smart00382	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	382	COG4987	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	30	cd03249	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	cd03224	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	30	cd03254	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	31	COG0410	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	79	COG1119	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	364	COG4615	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	cd03233	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	293	COG5265	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	569	COG2274	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	30	COG4619	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	COG3839	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	COG4525	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	36	COG1122	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	34	COG4107	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	COG1129	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	32	COG0488	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	36	COG1116	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	COG3842	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	COG1124	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	33	COG3638	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1200	COG1132	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	21	COG4138	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	cd03227	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	71	COG1134	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	COG1123	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	33	COG4598	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	26	cd03299	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	39	COG4181	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	cd03234	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	COG1127	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	25	cd03298	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	35	cd03297	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	26	COG3840	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	COG4161	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03257	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	30	cd03296	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	COG1136	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	30	COG2884	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	35	COG1135	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	35	cd03258	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	33	COG1125	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	COG1131	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	28	COG4559	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	COG4674	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	27	cd03222	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	32	cd03251	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03223	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	cd03219	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	30	cd03369	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	27	cd03231	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	cd03216	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	31	cd03260	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	32	COG4555	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	cd03294	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	cd03253	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	cd03229	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	99	cd03250	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	33	cd03221	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	cd03228	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	cd03290	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	cd03255	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	cd03292	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	32	cd03246	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	cd03230	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	cd03262	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	30	cd03256	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	cd03217	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	cd03266	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	69	cd03220	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	cd03267	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03301	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	28	cd03268	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	cd03247	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	cd03259	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	cd03264	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	27	cd03269	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	cd03263	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	27	cd03265	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	30	cd03252	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	cd03295	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	34	cd03293	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	31	cd03300	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	30	COG4136	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	28	COG4604	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	33	COG1101	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	27	cd03218	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	cd03261	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	cd03215	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	35	COG1120	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	34	COG1137	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	36	COG1126	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03213	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	33	cd03244	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	33	COG4133	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	COG4608	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	COG4175	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	COG1117	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	COG1118	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	34	COG1121	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	33	COG3845	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	COG4152	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	32	COG0411	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	cd03248	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	COG0444	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	33	cd03245	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	64	cd03291	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	25	COG4148	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	COG4167	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	cd03226	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03225	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	84	cd00267	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	28	cd03235	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03214	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	39	COG0396	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	362	COG4988	105990541,NP_000341
24	6707663	Disease	p.Gln957Arg	VAR_008429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008429	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	64	COG4586	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	smart00382	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	384	COG4987	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	32	cd03249	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	31	cd03224	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	32	cd03254	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	33	COG0410	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	81	COG1119	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	366	COG4615	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	cd03233	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	295	COG5265	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	571	COG2274	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	32	COG4619	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	COG3839	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	COG4525	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	COG1122	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	36	COG4107	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	COG1129	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	34	COG0488	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	COG1116	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	COG3842	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	COG1124	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	35	COG3638	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1202	COG1132	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	23	COG4138	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	cd03227	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	73	COG1134	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	COG1123	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	35	COG4598	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	28	cd03299	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	COG4181	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03234	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	COG1127	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	27	cd03298	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	39	cd03297	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	28	COG3840	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	31	COG4161	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03257	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	32	cd03296	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	COG1136	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	32	COG2884	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	COG1135	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	cd03258	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	35	COG1125	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	COG1131	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	30	COG4559	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	42	COG4674	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	cd03222	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	34	cd03251	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	cd03223	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	31	cd03219	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	32	cd03369	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	cd03231	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	39	cd03216	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	33	cd03260	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	34	COG4555	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	cd03294	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03253	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	cd03229	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	101	cd03250	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	35	cd03221	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	63	cd03228	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	31	cd03290	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	42	cd03255	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	31	cd03292	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	34	cd03246	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	cd03230	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	31	cd03262	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	32	cd03256	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	31	cd03217	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03266	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	71	cd03220	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03267	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	cd03301	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	30	cd03268	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	31	cd03247	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	cd03259	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03264	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	cd03269	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	57	cd03263	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	cd03265	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	32	cd03252	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	31	cd03295	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	36	cd03293	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	33	cd03300	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	32	COG4136	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	30	COG4604	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	35	COG1101	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	cd03218	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	31	cd03261	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	60	cd03215	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	COG1120	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	36	COG1137	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	COG1126	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	cd03213	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	35	cd03244	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	35	COG4133	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	COG4608	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	63	COG4175	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	COG1117	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	COG1118	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	36	COG1121	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	35	COG3845	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	31	COG4152	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	34	COG0411	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03248	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	39	COG0444	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	35	cd03245	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	66	cd03291	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	27	COG4148	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	42	COG4167	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	31	cd03226	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03225	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	86	cd00267	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	31	cd03235	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	cd03214	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	COG0396	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	364	COG4988	105990541,NP_000341
24	6707663	Disease	p.Thr959Ile	VAR_012546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012546	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	66	COG4586	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	12	smart00382	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	390	COG4987	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	cd03249	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	cd03224	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	cd03254	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	39	COG0410	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	87	COG1119	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	372	COG4615	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	cd03233	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	301	COG5265	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	577	COG2274	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	COG4619	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	COG3839	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	COG4525	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	COG1122	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	42	COG4107	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	COG1129	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	COG0488	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	COG1116	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	COG3842	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	COG1124	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	COG3638	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1215	COG1132	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	34	COG4138	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	cd03227	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	79	COG1134	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	COG1123	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	COG4598	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	34	cd03299	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	COG4181	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	cd03234	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	COG1127	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	33	cd03298	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	cd03297	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	34	COG3840	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	COG4161	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	cd03257	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	cd03296	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	COG1136	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	COG2884	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	COG1135	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03258	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	COG1125	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	64	COG1131	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	36	COG4559	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	COG4674	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	35	cd03222	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	cd03251	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	cd03223	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	cd03219	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03369	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	35	cd03231	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	cd03216	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	39	cd03260	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	COG4555	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	64	cd03294	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	cd03253	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	59	cd03229	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	cd03250	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	cd03221	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	69	cd03228	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	cd03290	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	cd03255	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	cd03292	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	cd03246	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	59	cd03230	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	cd03262	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	cd03256	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	cd03217	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	cd03266	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	77	cd03220	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	cd03267	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	cd03301	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	36	cd03268	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	cd03247	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	59	cd03259	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	cd03264	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	35	cd03269	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	63	cd03263	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	35	cd03265	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	cd03252	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	cd03295	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	42	cd03293	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	39	cd03300	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	COG4136	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	36	COG4604	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	COG1101	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	35	cd03218	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	cd03261	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	66	cd03215	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	COG1120	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	42	COG1137	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	COG1126	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	cd03213	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	cd03244	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	COG4133	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	60	COG4608	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	69	COG4175	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	COG1117	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	COG1118	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	42	COG1121	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	COG3845	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	COG4152	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	COG0411	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	cd03248	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	COG0444	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	cd03245	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	72	cd03291	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	33	COG4148	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	COG4167	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	cd03226	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	cd03225	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92	cd00267	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	cd03235	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	cd03214	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	COG0396	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	370	COG4988	105990541,NP_000341
24	6707663	Disease	p.Asn965Ser	VAR_008430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008430	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	72	COG4586	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	19	smart00382	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	396	COG4987	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03249	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03224	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03254	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	COG0410	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	93	COG1119	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	378	COG4615	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	cd03233	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	307	COG5265	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	583	COG2274	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	COG4619	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	67	COG3839	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	COG4525	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	COG1122	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	COG4107	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	COG1129	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	COG0488	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	COG1116	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	COG3842	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	COG1124	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	COG3638	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1223	COG1132	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	COG4138	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	68	cd03227	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	85	COG1134	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	COG1123	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	COG4598	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	cd03299	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	COG4181	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	cd03234	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	COG1127	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	39	cd03298	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	cd03297	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	COG3840	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	COG4161	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	cd03257	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03296	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	COG1136	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	COG2884	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	COG1135	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	cd03258	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	COG1125	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	70	COG1131	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	42	COG4559	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	2	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	COG4674	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	cd03222	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03251	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	57	cd03223	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03219	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	cd03369	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	cd03231	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	cd03216	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	cd03260	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	COG4555	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	70	cd03294	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	cd03253	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	cd03229	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	cd03250	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	cd03221	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	75	cd03228	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03290	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	cd03255	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03292	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03246	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	cd03230	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03262	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03256	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03217	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	cd03266	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	83	cd03220	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	cd03267	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	64	cd03301	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	42	cd03268	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03247	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	cd03259	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	cd03264	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	cd03269	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	69	cd03263	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	cd03265	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03252	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03295	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	cd03293	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	cd03300	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	COG4136	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	42	COG4604	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	COG1101	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	cd03218	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03261	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	72	cd03215	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	COG1120	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	COG1137	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	COG1126	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	57	cd03213	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	cd03244	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	COG4133	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	66	COG4608	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	75	COG4175	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	COG1117	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	59	COG1118	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	COG1121	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	COG3845	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	COG4152	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	COG0411	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	cd03248	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	COG0444	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	cd03245	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	78	cd03291	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	39	COG4148	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	COG4167	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03226	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	cd03225	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	98	cd00267	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03235	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	57	cd03214	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	COG0396	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	376	COG4988	105990541,NP_000341
24	6707663	Disease	p.Thr971Asn	VAR_012547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012547	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	78	COG4586	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	20	smart00382	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	397	COG4987	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	cd03249	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03224	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	cd03254	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	COG0410	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	94	COG1119	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	379	COG4615	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	cd03233	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	308	COG5265	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	584	COG2274	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	COG4619	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	68	COG3839	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	COG4525	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	COG1122	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	COG4107	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	59	COG1129	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	COG0488	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	COG1116	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	59	COG3842	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	COG1124	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	COG3638	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1224	COG1132	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	COG4138	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	69	cd03227	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	86	COG1134	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	63	COG1123	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	COG4598	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	cd03299	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	COG4181	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	cd03234	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	63	COG1127	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	cd03298	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	cd03297	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	COG3840	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	COG4161	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	59	cd03257	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	cd03296	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	59	COG1136	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	COG2884	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	COG1135	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03258	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	COG1125	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	71	COG1131	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	COG4559	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	COG4674	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	42	cd03222	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	cd03251	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	cd03223	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03219	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03369	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	42	cd03231	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	cd03216	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03260	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	COG4555	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	71	cd03294	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	63	cd03253	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	66	cd03229	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	114	cd03250	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	cd03221	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	76	cd03228	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03290	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	cd03255	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03292	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	cd03246	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	66	cd03230	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03262	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	cd03256	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03217	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	cd03266	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	84	cd03220	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	63	cd03267	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	cd03301	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03268	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03247	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	66	cd03259	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	63	cd03264	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	42	cd03269	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	70	cd03263	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	42	cd03265	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	cd03252	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03295	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	cd03293	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03300	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	COG4136	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	COG4604	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	COG1101	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	42	cd03218	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03261	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	73	cd03215	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	COG1120	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	COG1137	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	COG1126	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	cd03213	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	cd03244	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	COG4133	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	67	COG4608	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	76	COG4175	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	COG1117	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	60	COG1118	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	COG1121	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	COG3845	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	COG4152	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	COG0411	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	cd03248	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	COG0444	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	cd03245	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	79	cd03291	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	COG4148	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	COG4167	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03226	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	59	cd03225	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	99	cd00267	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03235	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	cd03214	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	COG0396	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	377	COG4988	105990541,NP_000341
24	6707663	Disease	p.Thr972Asn	VAR_012548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012548	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	79	COG4586	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	23	smart00382	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	399	COG4987	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	cd03249	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03224	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	cd03254	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	COG0410	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	96	COG1119	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	381	COG4615	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	64	cd03233	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	310	COG5265	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	586	COG2274	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	COG4619	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	70	COG3839	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	COG4525	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	COG1122	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	COG4107	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	COG1129	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	COG0488	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	COG1116	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	COG3842	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	COG1124	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	COG3638	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1226	COG1132	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	COG4138	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	71	cd03227	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	88	COG1134	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	COG1123	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	COG4598	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03299	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	COG4181	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	cd03234	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	COG1127	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	42	cd03298	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	cd03297	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	COG3840	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	COG4161	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	cd03257	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	cd03296	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	COG1136	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	COG2884	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	COG1135	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	cd03258	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	COG1125	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	73	COG1131	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	COG4559	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	57	COG4674	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03222	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	cd03251	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	60	cd03223	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03219	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	cd03369	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03231	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	cd03216	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	cd03260	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	COG4555	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	73	cd03294	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	cd03253	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	68	cd03229	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	116	cd03250	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03221	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	78	cd03228	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03290	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	57	cd03255	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03292	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	cd03246	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	68	cd03230	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03262	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	cd03256	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03217	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	cd03266	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	86	cd03220	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	cd03267	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	67	cd03301	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	cd03268	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03247	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	68	cd03259	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	cd03264	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03269	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	72	cd03263	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03265	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	cd03252	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03295	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	cd03293	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	cd03300	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	COG4136	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	COG4604	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	COG1101	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	cd03218	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03261	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	75	cd03215	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	COG1120	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	COG1137	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	COG1126	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	60	cd03213	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03244	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	COG4133	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	69	COG4608	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	78	COG4175	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	COG1117	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	COG1118	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	COG1121	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	COG3845	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	COG4152	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	COG0411	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	cd03248	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	COG0444	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03245	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	81	cd03291	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	42	COG4148	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	57	COG4167	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03226	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	cd03225	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	101	cd00267	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03235	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	60	cd03214	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	COG0396	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	379	COG4988	105990541,NP_000341
24	6707663	Disease	p.Ser974Pro	VAR_012549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012549	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	81	COG4586	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	27	smart00382	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	403	COG4987	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	cd03249	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03224	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	cd03254	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	COG0410	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	100	COG1119	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	385	COG4615	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	68	cd03233	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	314	COG5265	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	590	COG2274	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	COG4619	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	74	COG3839	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	59	COG4525	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	60	COG1122	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	COG4107	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	COG1129	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	COG0488	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	57	COG1116	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	COG3842	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	COG1124	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	COG3638	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1230	COG1132	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	COG4138	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	79	cd03227	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92	COG1134	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	69	COG1123	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	COG4598	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	cd03299	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	60	COG4181	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	cd03234	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	69	COG1127	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03298	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	cd03297	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	COG3840	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	COG4161	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	cd03257	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	cd03296	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	COG1136	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	COG2884	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	COG1135	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	cd03258	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	COG1125	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	77	COG1131	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	COG4559	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	9	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	COG4674	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	cd03222	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	cd03251	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	64	cd03223	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03219	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	cd03369	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	cd03231	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	cd03216	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	cd03260	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	COG4555	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	77	cd03294	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	69	cd03253	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	72	cd03229	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	120	cd03250	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	cd03221	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	82	cd03228	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03290	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	cd03255	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03292	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	cd03246	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	72	cd03230	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03262	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	cd03256	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03217	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	cd03266	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	90	cd03220	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	69	cd03267	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	71	cd03301	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	cd03268	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03247	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	72	cd03259	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	69	cd03264	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	cd03269	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	76	cd03263	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	cd03265	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	cd03252	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03295	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	cd03293	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	cd03300	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	COG4136	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	COG4604	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	COG1101	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	cd03218	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03261	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	79	cd03215	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	COG1120	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	COG1137	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	60	COG1126	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	64	cd03213	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	cd03244	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	COG4133	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	73	COG4608	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	82	COG4175	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	59	COG1117	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	66	COG1118	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	COG1121	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	COG3845	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	COG4152	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	COG0411	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	cd03248	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	COG0444	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	cd03245	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	85	cd03291	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	COG4148	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	COG4167	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03226	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	cd03225	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	105	cd00267	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03235	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	64	cd03214	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	60	COG0396	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	383	COG4988	105990541,NP_000341
24	6707663	Disease	p.Gly978Cys	VAR_008431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008431	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	85	COG4586	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	75	smart00382	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	414	COG4987	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	91	cd03249	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	66	cd03224	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	cd03254	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	66	COG0410	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	COG1119	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	396	COG4615	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	83	cd03233	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	325	COG5265	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	601	COG2274	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	COG4619	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	85	COG3839	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	70	COG4525	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	233	COG1122	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	66	COG4107	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	81	COG1129	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	71	COG0488	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	73	COG1116	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	77	COG3842	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	74	COG1124	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	70	COG3638	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1243	COG1132	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	57	COG4138	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	123	cd03227	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	103	COG1134	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	85	COG1123	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	COG4598	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	cd03299	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	71	COG4181	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	81	cd03234	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	80	COG1127	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	57	cd03298	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	69	cd03297	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	58	COG3840	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	COG4161	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	90	cd03257	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	cd03296	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	77	COG1136	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	COG2884	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	67	COG1135	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	67	cd03258	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	COG1125	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	91	COG1131	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	60	COG4559	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	26	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	76	COG4674	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	cd03222	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	64	cd03251	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	82	cd03223	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	cd03219	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	67	cd03369	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	59	cd03231	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	74	cd03216	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	69	cd03260	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	64	COG4555	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	88	cd03294	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	80	cd03253	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	88	cd03229	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	135	cd03250	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	69	cd03221	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	111	cd03228	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	cd03290	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	75	cd03255	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	cd03292	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	64	cd03246	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	83	cd03230	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	cd03262	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	cd03256	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	63	cd03217	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	73	cd03266	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	101	cd03220	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	80	cd03267	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	82	cd03301	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	60	cd03268	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	cd03247	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	84	cd03259	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	81	cd03264	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	59	cd03269	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	104	cd03263	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	59	cd03265	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	cd03252	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	cd03295	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	66	cd03293	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	63	cd03300	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	COG4136	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	60	COG4604	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	COG1101	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	60	cd03218	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	cd03261	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	94	cd03215	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	68	COG1120	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	66	COG1137	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	71	COG1126	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	80	cd03213	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	68	cd03244	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	COG4133	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	86	COG4608	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	93	COG4175	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	76	COG1117	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	77	COG1118	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	66	COG1121	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	COG3845	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	COG4152	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	64	COG0411	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	73	cd03248	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	75	COG0444	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	cd03245	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	96	cd03291	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	57	COG4148	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	72	COG4167	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	cd03226	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	82	cd03225	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	155	cd00267	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	cd03235	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	78	cd03214	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	73	COG0396	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	395	COG4988	105990541,NP_000341
24	6707663	Disease	p.Val989Ala	VAR_012550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012550	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	96	COG4586	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	77	smart00382	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	416	COG4987	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	93	cd03249	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	68	cd03224	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	64	cd03254	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	73	COG0410	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	114	COG1119	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	398	COG4615	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	85	cd03233	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	327	COG5265	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	603	COG2274	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	64	COG4619	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	87	COG3839	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	72	COG4525	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	235	COG1122	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	68	COG4107	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	88	COG1129	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	73	COG0488	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	75	COG1116	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	79	COG3842	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	76	COG1124	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	72	COG3638	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	1251	COG1132	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	59	COG4138	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	125	cd03227	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	105	COG1134	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	87	COG1123	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	67	COG4598	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	60	cd03299	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	73	COG4181	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	83	cd03234	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	82	COG1127	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	59	cd03298	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	71	cd03297	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	60	COG3840	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	63	COG4161	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	92	cd03257	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	64	cd03296	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	79	COG1136	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	64	COG2884	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	69	COG1135	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	69	cd03258	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	67	COG1125	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	93	COG1131	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	62	COG4559	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	28	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	78	COG4674	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	57	cd03222	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	66	cd03251	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	84	cd03223	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	63	cd03219	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	69	cd03369	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	61	cd03231	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	76	cd03216	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	71	cd03260	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	66	COG4555	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	90	cd03294	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	82	cd03253	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	90	cd03229	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	137	cd03250	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	71	cd03221	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	113	cd03228	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	63	cd03290	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	77	cd03255	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	63	cd03292	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	66	cd03246	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	85	cd03230	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	63	cd03262	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	64	cd03256	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	65	cd03217	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	75	cd03266	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	103	cd03220	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	82	cd03267	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	84	cd03301	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	62	cd03268	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	63	cd03247	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	86	cd03259	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	83	cd03264	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	61	cd03269	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	106	cd03263	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	61	cd03265	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	64	cd03252	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	63	cd03295	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	68	cd03293	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	65	cd03300	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	67	COG4136	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	62	COG4604	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	67	COG1101	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	62	cd03218	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	63	cd03261	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	96	cd03215	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	70	COG1120	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	68	COG1137	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	73	COG1126	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	82	cd03213	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	70	cd03244	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	67	COG4133	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	88	COG4608	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	95	COG4175	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	80	COG1117	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	79	COG1118	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	68	COG1121	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	67	COG3845	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	63	COG4152	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	66	COG0411	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	75	cd03248	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	77	COG0444	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	67	cd03245	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	98	cd03291	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	59	COG4148	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	74	COG4167	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	64	cd03226	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	84	cd03225	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	157	cd00267	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	63	cd03235	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	80	cd03214	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	75	COG0396	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	397	COG4988	105990541,NP_000341
24	6707663	Disease	p.Gly991Arg	VAR_012551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012551	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	98	COG4586	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	100	smart00382	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	440	COG4987	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	165	cd03249	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	98	cd03224	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	88	cd03254	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	104	COG0410	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	COG1119	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	412	COG4615	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	108	cd03233	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	351	COG5265	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	627	COG2274	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	88	COG4619	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	117	COG3839	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	91	COG4525	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	428	COG1122	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	101	COG4107	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	117	COG1129	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	87	COG0488	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	97	COG1116	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	COG3842	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	116	COG1124	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	101	COG3638	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1281	COG1132	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	83	COG4138	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	280	cd03227	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	120_G	COG1134	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153	COG1123	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	104	COG4598	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	82	cd03299	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	101	COG4181	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	114	cd03234	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	110	COG1127	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	81	cd03298	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	99	cd03297	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	82	COG3840	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	94	COG4161	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	267	cd03257	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	86	cd03296	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	COG1136	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	91	COG2884	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	105	COG1135	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	102	cd03258	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	91	COG1125	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	133	COG1131	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	86	COG4559	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	64	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	104	COG4674	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	95	cd03222	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	90	cd03251	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	123	cd03223	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	94	cd03219	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	93	cd03369	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	84	cd03231	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	cd03216	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	102	cd03260	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	90	COG4555	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	119	cd03294	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	116	cd03253	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	129	cd03229	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	180	cd03250	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	100	cd03221	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	207	cd03228	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	101	cd03290	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	110	cd03255	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	90	cd03292	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	90	cd03246	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	cd03230	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	102	cd03262	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	96	cd03256	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	90	cd03217	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	99	cd03266	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	118_G	cd03220	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	cd03267	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	cd03301	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	88	cd03268	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	87	cd03247	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	116	cd03259	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	108	cd03264	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	82	cd03269	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	138	cd03263	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	84	cd03265	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	88	cd03252	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	87	cd03295	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	117	cd03293	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	87	cd03300	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	89	COG4136	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	86	COG4604	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	93	COG1101	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	88	cd03218	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	90	cd03261	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	214	cd03215	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	137	COG1120	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	93	COG1137	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	110	COG1126	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	cd03213	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	101	cd03244	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	91	COG4133	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	162	COG4608	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	127	COG4175	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	108	COG1117	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	108	COG1118	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92	COG1121	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92	COG3845	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	83	COG4152	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	COG0411	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	99	cd03248	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	251	COG0444	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	101	cd03245	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	119	cd03291	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	87	COG4148	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	100	COG4167	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	cd03226	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	125	cd03225	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	232	cd00267	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	86	cd03235	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	146	cd03214	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	117	COG0396	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	421	COG4988	105990541,NP_000341
24	6707663	Disease	p.Leu1014Arg	VAR_012552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012552	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	130	COG4586	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	105	smart00382	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	444	COG4987	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	169	cd03249	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	103	cd03224	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92	cd03254	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	COG0410	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153	COG1119	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	415	COG4615	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	cd03233	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	355	COG5265	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	631	COG2274	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92	COG4619	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	COG3839	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	96	COG4525	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	432	COG1122	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	COG4107	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	COG1129	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	97	COG0488	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	102	COG1116	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	COG3842	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	121	COG1124	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	COG3638	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1286	COG1132	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	88	COG4138	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	285	cd03227	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	COG1134	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	159	COG1123	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	COG4598	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	87	cd03299	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	COG4181	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	120	cd03234	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	COG1127	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	86	cd03298	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	104	cd03297	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	87	COG3840	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	99	COG4161	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	269_G	cd03257	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	91	cd03296	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	120	COG1136	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	96	COG2884	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	110	COG1135	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	cd03258	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	96	COG1125	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	138	COG1131	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	91	COG4559	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	71	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	COG4674	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	100	cd03222	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	94	cd03251	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	136	cd03223	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	99	cd03219	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	cd03369	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	89	cd03231	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	114	cd03216	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	cd03260	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	95	COG4555	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	124	cd03294	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	121	cd03253	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	134	cd03229	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	cd03250	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	105	cd03221	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	211	cd03228	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	105	cd03290	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	cd03255	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	95	cd03292	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	94	cd03246	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	cd03230	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	cd03262	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	101	cd03256	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	95	cd03217	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	104	cd03266	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	121	cd03220	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	114	cd03267	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	117	cd03301	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	93	cd03268	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	97	cd03247	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	121	cd03259	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	cd03264	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	87	cd03269	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	144	cd03263	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	89	cd03265	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92	cd03252	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92	cd03295	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	cd03293	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92	cd03300	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	94	COG4136	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	91	COG4604	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	98	COG1101	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	93	cd03218	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	95	cd03261	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	219	cd03215	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	142	COG1120	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	98	COG1137	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	COG1126	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	cd03213	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	cd03244	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	96	COG4133	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	698	COG4608	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	132	COG4175	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	COG1117	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	COG1118	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	99	COG1121	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	97	COG3845	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	88	COG4152	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	127	COG0411	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	103	cd03248	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	253	COG0444	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	cd03245	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	121	cd03291	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92	COG4148	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	105	COG4167	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	116	cd03226	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	131	cd03225	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	237	cd00267	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	94	cd03235	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	151	cd03214	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	COG0396	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	425	COG4988	105990541,NP_000341
24	6707663	Disease	p.Thr1019Ala	VAR_012553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012553	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	135	COG4586	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	105	smart00382	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	444	COG4987	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	169	cd03249	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	103	cd03224	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92	cd03254	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	COG0410	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153	COG1119	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	415	COG4615	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	cd03233	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	355	COG5265	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	631	COG2274	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92	COG4619	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	COG3839	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	96	COG4525	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	432	COG1122	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	COG4107	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	COG1129	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	97	COG0488	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	102	COG1116	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	COG3842	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	121	COG1124	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	COG3638	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1286	COG1132	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	88	COG4138	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	285	cd03227	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	COG1134	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	159	COG1123	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	COG4598	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	87	cd03299	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	COG4181	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	120	cd03234	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	COG1127	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	86	cd03298	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	104	cd03297	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	87	COG3840	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	99	COG4161	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	269_G	cd03257	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	91	cd03296	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	120	COG1136	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	96	COG2884	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	110	COG1135	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	cd03258	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	96	COG1125	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	138	COG1131	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	91	COG4559	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	71	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	COG4674	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	100	cd03222	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	94	cd03251	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	136	cd03223	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	99	cd03219	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	cd03369	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	89	cd03231	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	114	cd03216	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	cd03260	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	95	COG4555	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	124	cd03294	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	121	cd03253	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	134	cd03229	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	cd03250	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	105	cd03221	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	211	cd03228	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	105	cd03290	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	cd03255	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	95	cd03292	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	94	cd03246	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	cd03230	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	cd03262	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	101	cd03256	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	95	cd03217	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	104	cd03266	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	121	cd03220	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	114	cd03267	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	117	cd03301	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	93	cd03268	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	97	cd03247	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	121	cd03259	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	cd03264	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	87	cd03269	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	144	cd03263	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	89	cd03265	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92	cd03252	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92	cd03295	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	cd03293	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92	cd03300	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	94	COG4136	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	91	COG4604	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	98	COG1101	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	93	cd03218	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	95	cd03261	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	219	cd03215	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	142	COG1120	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	98	COG1137	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	COG1126	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	cd03213	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	cd03244	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	96	COG4133	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	698	COG4608	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	132	COG4175	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	COG1117	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	COG1118	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	99	COG1121	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	97	COG3845	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	88	COG4152	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	127	COG0411	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	103	cd03248	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	253	COG0444	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	cd03245	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	121	cd03291	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92	COG4148	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	105	COG4167	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	116	cd03226	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	131	cd03225	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	237	cd00267	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	94	cd03235	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	151	cd03214	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	COG0396	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	425	COG4988	105990541,NP_000341
24	6707663	Disease	p.Thr1019Met	VAR_012554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012554	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	135	COG4586	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	108	smart00382	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	447	COG4987	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	172	cd03249	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	cd03224	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	95	cd03254	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	COG0410	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	156	COG1119	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	419	COG4615	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	116	cd03233	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	358	COG5265	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	634	COG2274	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	95	COG4619	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	125	COG3839	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	99	COG4525	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	435	COG1122	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	COG4107	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	125	COG1129	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	100	COG0488	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	105	COG1116	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	COG3842	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	124	COG1124	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	118	COG3638	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1291	COG1132	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	91	COG4138	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	288	cd03227	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	125	COG1134	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	162	COG1123	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	COG4598	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	90	cd03299	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	COG4181	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	123	cd03234	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	118	COG1127	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	89	cd03298	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	cd03297	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	90	COG3840	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	102	COG4161	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	272	cd03257	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	94	cd03296	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	123	COG1136	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	99	COG2884	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	COG1135	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	110	cd03258	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	99	COG1125	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	141	COG1131	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	94	COG4559	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	102	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	COG4674	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	103	cd03222	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	97	cd03251	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	139	cd03223	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	102	cd03219	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	cd03369	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92	cd03231	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	117	cd03216	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	110	cd03260	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	98	COG4555	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	127	cd03294	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	124	cd03253	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	137	cd03229	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	191	cd03250	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	108	cd03221	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	214	cd03228	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	108	cd03290	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	118	cd03255	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	98	cd03292	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	97	cd03246	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	125	cd03230	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	110	cd03262	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	104	cd03256	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	98	cd03217	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	cd03266	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	124	cd03220	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	117	cd03267	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	120	cd03301	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	96	cd03268	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	100	cd03247	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	124	cd03259	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	116	cd03264	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	90	cd03269	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	147	cd03263	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92	cd03265	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	95	cd03252	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	95	cd03295	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	125	cd03293	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	95	cd03300	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	97	COG4136	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	94	COG4604	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	101	COG1101	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	96	cd03218	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	98	cd03261	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	222	cd03215	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	145	COG1120	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	101	COG1137	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	118	COG1126	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	cd03213	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	132	cd03244	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	99	COG4133	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	701	COG4608	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	135	COG4175	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	116	COG1117	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	116	COG1118	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	102	COG1121	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	100	COG3845	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	91	COG4152	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	130	COG0411	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	cd03248	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	256	COG0444	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	cd03245	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	124	cd03291	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	95	COG4148	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	108	COG4167	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	119	cd03226	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	134	cd03225	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	240	cd00267	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	97	cd03235	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	154	cd03214	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	125	COG0396	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	428	COG4988	105990541,NP_000341
24	6707663	Disease	p.Glu1022Lys	VAR_012555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012555	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	140	COG4586	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	217	smart00382	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	455	COG4987	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	180	cd03249	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	cd03224	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	cd03254	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	123	COG0410	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	COG1119	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	428	COG4615	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	125	cd03233	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	372	COG5265	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	643	COG2274	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	104	COG4619	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	134	COG3839	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	108	COG4525	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	445	COG1122	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	118	COG4107	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	136	COG1129	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	141	COG0488	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	114	COG1116	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	337	COG3842	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	147	COG1124	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	127	COG3638	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1300	COG1132	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	100	COG4138	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	840	cd03227	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	134	COG1134	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	171	COG1123	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	COG4598	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	99	cd03299	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	118	COG4181	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	132	cd03234	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	128	COG1127	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	98	cd03298	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	119	cd03297	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	99	COG3840	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	COG4161	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	281	cd03257	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	103	cd03296	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	139	COG1136	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	108	COG2884	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	COG1135	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	119	cd03258	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	108	COG1125	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	150	COG1131	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	103	COG4559	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	111	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	129	COG4674	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	cd03222	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	cd03251	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	148	cd03223	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	111	cd03219	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	123	cd03369	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	101	cd03231	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	126	cd03216	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	119	cd03260	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	COG4555	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	136	cd03294	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	134	cd03253	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	146	cd03229	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	211	cd03250	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	117	cd03221	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	223	cd03228	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	120	cd03290	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	127	cd03255	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	cd03292	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	cd03246	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	134	cd03230	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	120	cd03262	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	121	cd03256	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	108	cd03217	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	116	cd03266	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	133	cd03220	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	126	cd03267	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	129	cd03301	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	105	cd03268	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	cd03247	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	133	cd03259	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	125	cd03264	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	99	cd03269	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	156	cd03263	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	101	cd03265	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	100	cd03252	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	104	cd03295	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	134	cd03293	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	104	cd03300	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	108	COG4136	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	105_G	COG4604	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	COG1101	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	105	cd03218	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	cd03261	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	231	cd03215	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	166	COG1120	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	110	COG1137	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	128	COG1126	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	124	cd03213	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	141	cd03244	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	108	COG4133	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	710	COG4608	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	144	COG4175	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	125	COG1117	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	125	COG1118	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	116	COG1121	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	COG3845	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	100	COG4152	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	141	COG0411	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	cd03248	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	277	COG0444	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	119	cd03245	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	133	cd03291	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	103	COG4148	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	117	COG4167	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	128	cd03226	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	cd03225	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	249	cd00267	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	119	cd03235	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	172	cd03214	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	135	COG0396	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	433_G	COG4988	105990541,NP_000341
24	6707663	Disease	p.Lys1031Glu	VAR_012556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012556	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	149	COG4586	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	222	smart00382	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	460	COG4987	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	cd03249	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	128	cd03224	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	cd03254	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	128	COG0410	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	179	COG1119	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	433	COG4615	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	130	cd03233	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	377	COG5265	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	649	COG2274	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	111	COG4619	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	369	COG3839	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	COG4525	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	450	COG1122	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	123	COG4107	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	154	COG1129	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	146	COG0488	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	126	COG1116	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	342	COG3842	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	214	COG1124	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	132	COG3638	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1327	COG1132	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	COG4138	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	845	cd03227	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	139	COG1134	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	187	COG1123	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	127	COG4598	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	cd03299	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	124	COG4181	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	138	cd03234	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	134	COG1127	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	103	cd03298	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	124	cd03297	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	104	COG3840	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	117	COG4161	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	286	cd03257	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	cd03296	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	148	COG1136	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	COG2884	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	141	COG1135	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	126	cd03258	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	COG1125	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	COG1131	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	108	COG4559	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	193	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	134	COG4674	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	114	cd03222	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	cd03251	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153	cd03223	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	150	cd03219	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	128	cd03369	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	cd03231	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	145	cd03216	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	124	cd03260	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	COG4555	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	141	cd03294	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	139	cd03253	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	151	cd03229	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	216	cd03250	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	228	cd03221	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	228	cd03228	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	125	cd03290	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	132	cd03255	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	cd03292	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	cd03246	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	139	cd03230	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	125	cd03262	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	126	cd03256	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	cd03217	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	121	cd03266	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	138	cd03220	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	131	cd03267	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	173	cd03301	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	114	cd03268	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	cd03247	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	140	cd03259	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	130	cd03264	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	104	cd03269	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	161	cd03263	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	cd03265	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	105	cd03252	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	cd03295	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	150	cd03293	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	cd03300	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	COG4136	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	110	COG4604	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	COG1101	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	116	cd03218	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	cd03261	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	236	cd03215	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	171	COG1120	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	COG1137	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	133	COG1126	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	131	cd03213	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	146	cd03244	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	COG4133	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	715	COG4608	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	149	COG4175	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	130	COG1117	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	136	COG1118	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	128	COG1121	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	127	COG3845	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	105	COG4152	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	COG0411	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	118	cd03248	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	434	COG0444	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	120_G	cd03245	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	138	cd03291	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107_G	COG4148	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	COG4167	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	134	cd03226	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	148	cd03225	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	254	cd00267	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	124	cd03235	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03214	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	140	COG0396	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	435	COG4988	105990541,NP_000341
24	6707663	Disease	p.Glu1036Lys	VAR_008432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008432	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	154	COG4586	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	224	smart00382	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	467	COG4987	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	187	cd03249	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	130	cd03224	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	118	cd03254	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	130	COG0410	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	181	COG1119	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	435	COG4615	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	132	cd03233	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	379	COG5265	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	651	COG2274	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	113	COG4619	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	371	COG3839	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	115	COG4525	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	454	COG1122	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	128	COG4107	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	156	COG1129	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	148	COG0488	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	128	COG1116	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	344	COG3842	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	216	COG1124	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	134	COG3638	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	1329	COG1132	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	109	COG4138	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	847	cd03227	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	141	COG1134	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	189	COG1123	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	129	COG4598	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	108	cd03299	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	126	COG4181	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	140	cd03234	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	136	COG1127	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	105	cd03298	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	126	cd03297	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	106	COG3840	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	119	COG4161	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	288	cd03257	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	114	cd03296	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	150	COG1136	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	115	COG2884	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	143	COG1135	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	128	cd03258	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	115	COG1125	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	165	COG1131	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	110	COG4559	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	195	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	136	COG4674	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	116	cd03222	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	124	cd03251	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	155	cd03223	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	152	cd03219	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	130	cd03369	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	108	cd03231	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	147	cd03216	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	139	cd03260	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	114	COG4555	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	143	cd03294	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	139_G	cd03253	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	153	cd03229	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	218	cd03250	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	230	cd03221	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	230	cd03228	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	127	cd03290	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	143	cd03255	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	114	cd03292	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	109	cd03246	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	141	cd03230	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	127	cd03262	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	128	cd03256	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	115	cd03217	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	123	cd03266	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	140	cd03220	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	133	cd03267	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	175	cd03301	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	116	cd03268	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	115	cd03247	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	142	cd03259	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	132	cd03264	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	106	cd03269	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	163	cd03263	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	108	cd03265	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	107	cd03252	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	111	cd03295	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	152	cd03293	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	111	cd03300	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	113_G	COG4136	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	112	COG4604	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	124	COG1101	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	118	cd03218	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	114	cd03261	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	238	cd03215	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	173	COG1120	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	121	COG1137	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	135	COG1126	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	133	cd03213	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	149	cd03244	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	115	COG4133	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	717	COG4608	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	151	COG4175	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	143	COG1117	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	138	COG1118	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	130	COG1121	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	129	COG3845	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	107	COG4152	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	180	COG0411	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	136	cd03248	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	436	COG0444	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	120_G	cd03245	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	140	cd03291	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	109	COG4148	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	124	COG4167	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	135_G	cd03226	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	150	cd03225	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	1246	cd00267	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	126	cd03235	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	179	cd03214	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	181	COG0396	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	438	COG4988	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	156	COG4586	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	224	smart00382	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	467	COG4987	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	187	cd03249	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	130	cd03224	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	118	cd03254	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	130	COG0410	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	181	COG1119	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	435	COG4615	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	132	cd03233	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	379	COG5265	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	651	COG2274	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	113	COG4619	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	371	COG3839	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	115	COG4525	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	454	COG1122	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	128	COG4107	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	156	COG1129	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	148	COG0488	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	128	COG1116	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	344	COG3842	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	216	COG1124	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	134	COG3638	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	1329	COG1132	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	109	COG4138	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	847	cd03227	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	141	COG1134	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	189	COG1123	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	129	COG4598	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	108	cd03299	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	126	COG4181	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	140	cd03234	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	136	COG1127	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	105	cd03298	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	126	cd03297	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	106	COG3840	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	119	COG4161	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	288	cd03257	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	114	cd03296	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	150	COG1136	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	115	COG2884	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	143	COG1135	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	128	cd03258	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	115	COG1125	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	165	COG1131	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	110	COG4559	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	195	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	136	COG4674	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	116	cd03222	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	124	cd03251	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	155	cd03223	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	152	cd03219	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	130	cd03369	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	108	cd03231	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	147	cd03216	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	139	cd03260	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	114	COG4555	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	143	cd03294	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	139_G	cd03253	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	153	cd03229	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	218	cd03250	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	230	cd03221	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	230	cd03228	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	127	cd03290	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	143	cd03255	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	114	cd03292	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	109	cd03246	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	141	cd03230	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	127	cd03262	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	128	cd03256	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	115	cd03217	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	123	cd03266	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	140	cd03220	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	133	cd03267	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	175	cd03301	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	116	cd03268	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	115	cd03247	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	142	cd03259	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	132	cd03264	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	106	cd03269	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	163	cd03263	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	108	cd03265	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	107	cd03252	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	111	cd03295	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	152	cd03293	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	111	cd03300	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	113_G	COG4136	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	112	COG4604	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	124	COG1101	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	118	cd03218	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	114	cd03261	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	238	cd03215	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	173	COG1120	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	121	COG1137	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	135	COG1126	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	133	cd03213	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	149	cd03244	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	115	COG4133	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	717	COG4608	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	151	COG4175	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	143	COG1117	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	138	COG1118	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	130	COG1121	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	129	COG3845	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	107	COG4152	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	180	COG0411	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	136	cd03248	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	436	COG0444	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	120_G	cd03245	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	140	cd03291	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	109	COG4148	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	124	COG4167	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	135_G	cd03226	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	150	cd03225	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	1246	cd00267	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	126	cd03235	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	179	cd03214	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	181	COG0396	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	438	COG4988	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	156	COG4586	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	224	smart00382	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	467	COG4987	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	187	cd03249	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	130	cd03224	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	118	cd03254	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	130	COG0410	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	181	COG1119	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	435	COG4615	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	132	cd03233	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	379	COG5265	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	651	COG2274	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	COG4619	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	371	COG3839	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	COG4525	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	454	COG1122	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	128	COG4107	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	156	COG1129	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	148	COG0488	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	128	COG1116	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	344	COG3842	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	216	COG1124	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	134	COG3638	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1329	COG1132	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	COG4138	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	847	cd03227	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	141	COG1134	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	189	COG1123	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	129	COG4598	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	108	cd03299	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	126	COG4181	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	140	cd03234	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	136	COG1127	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	105	cd03298	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	126	cd03297	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	COG3840	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	119	COG4161	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	288	cd03257	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	114	cd03296	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	150	COG1136	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	COG2884	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	COG1135	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	128	cd03258	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	COG1125	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	165	COG1131	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	110	COG4559	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	136	COG4674	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	116	cd03222	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	124	cd03251	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	155	cd03223	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	152	cd03219	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	130	cd03369	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	108	cd03231	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	147	cd03216	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	139	cd03260	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	114	COG4555	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	cd03294	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	139_G	cd03253	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153	cd03229	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	218	cd03250	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	230	cd03221	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	230	cd03228	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	127	cd03290	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	cd03255	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	114	cd03292	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	cd03246	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	141	cd03230	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	127	cd03262	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	128	cd03256	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	cd03217	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	123	cd03266	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	140	cd03220	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	133	cd03267	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175	cd03301	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	116	cd03268	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	cd03247	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	142	cd03259	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	132	cd03264	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	cd03269	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	cd03263	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	108	cd03265	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	cd03252	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	111	cd03295	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	152	cd03293	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	111	cd03300	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113_G	COG4136	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	COG4604	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	124	COG1101	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	118	cd03218	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	114	cd03261	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	238	cd03215	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	173	COG1120	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	121	COG1137	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	135	COG1126	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	133	cd03213	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	149	cd03244	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	COG4133	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	717	COG4608	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	151	COG4175	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	COG1117	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	138	COG1118	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	130	COG1121	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	129	COG3845	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	COG4152	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	180	COG0411	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	136	cd03248	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	436	COG0444	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	120_G	cd03245	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	140	cd03291	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	COG4148	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	124	COG4167	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	135_G	cd03226	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	150	cd03225	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1246	cd00267	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	126	cd03235	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	179	cd03214	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	181	COG0396	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	438	COG4988	105990541,NP_000341
24	6707663	Disease	p.Ala1038Val	VAR_008433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008433	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	156	COG4586	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	241	smart00382	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	486	COG4987	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	257	cd03249	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	149	cd03224	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	135	cd03254	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153	COG0410	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	457	COG4615	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	183	cd03233	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	396	COG5265	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	673	COG2274	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	130	COG4619	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	406	COG3839	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	132	COG4525	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	474	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	145	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	179	COG1129	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	COG0488	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	148	COG1116	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	364	COG3842	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	241	COG1124	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	150	COG3638	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1375	COG1132	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	125	COG4138	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1233	cd03227	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	158	COG1134	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	COG1123	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	146	COG4598	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	123	cd03299	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	COG4181	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	171	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	154	COG1127	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	cd03298	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	cd03297	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	123	COG3840	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	136	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	406	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	131	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	COG1136	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	132	COG2884	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	161	COG1135	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	145	cd03258	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	130_G	COG1125	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	129	COG4559	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	213	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153	COG4674	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	133	cd03222	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	cd03251	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	211	cd03223	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	170	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	159	cd03369	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	125	cd03231	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	164	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	156	cd03260	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	131	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	160	cd03294	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	158_G	cd03253	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	235	cd03250	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	247	cd03221	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	294	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	145	cd03290	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	160	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	131	cd03292	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	127	cd03246	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	161	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	145	cd03262	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	145	cd03256	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	138	cd03217	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	140	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	160	cd03220	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	150	cd03267	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	130	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	138	cd03247	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	161	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	150	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	123	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	193	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	125	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	133	cd03252	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	128	cd03295	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	170	cd03293	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	128	cd03300	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	130	COG4136	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	129	COG4604	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	142	COG1101	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	135	cd03218	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	133	cd03261	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	293	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	190	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	140	COG1137	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153	COG1126	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	217	cd03213	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	cd03244	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	132	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	738	COG4608	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	COG4175	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	166	COG1117	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	158_G	COG1118	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	148	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	146	COG3845	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	124	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	197	COG0411	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	158	cd03248	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	453	COG0444	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	136	cd03245	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153_G	cd03291	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	126	COG4148	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	COG4167	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	150	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	169	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1263	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	142	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	196	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	204	COG0396	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	456	COG4988	105990541,NP_000341
24	6707663	Disease	p.Arg1055Trp	VAR_012557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012557	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	173	COG4586	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	249	smart00382	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	494	COG4987	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	268	cd03249	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	157	cd03224	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	cd03254	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	161	COG0410	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	207	COG1119	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	465	COG4615	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	196	cd03233	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	404	COG5265	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	681	COG2274	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	139	COG4619	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	415	COG3839	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	141	COG4525	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	482	COG1122	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	154	COG4107	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	187	COG1129	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	COG0488	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	156	COG1116	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	372	COG3842	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	251	COG1124	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	158	COG3638	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1386	COG1132	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	133	COG4138	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1241	cd03227	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	166	COG1134	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	251	COG1123	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	155	COG4598	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	131	cd03299	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	151	COG4181	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	179	cd03234	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	162	COG1127	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	130	cd03298	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	151	cd03297	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	131	COG3840	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	144	COG4161	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	411	cd03257	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	139	cd03296	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	COG1136	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	140	COG2884	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	169	COG1135	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153	cd03258	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	144	COG1125	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	COG1131	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	137	COG4559	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	251	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	161	COG4674	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	141	cd03222	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	160	cd03251	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	227	cd03223	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	cd03219	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	167	cd03369	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	130	cd03231	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	172	cd03216	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	cd03260	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	139	COG4555	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	cd03294	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	160	cd03253	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	cd03229	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	253	cd03250	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	252	cd03221	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	302	cd03228	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153	cd03290	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	171	cd03255	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	139	cd03292	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	135	cd03246	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	169	cd03230	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153	cd03262	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	154	cd03256	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	152	cd03217	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	148	cd03266	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	169	cd03220	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	158	cd03267	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	200	cd03301	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	138	cd03268	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	146	cd03247	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	169	cd03259	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	158	cd03264	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	131	cd03269	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	cd03263	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	133	cd03265	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	141	cd03252	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	138	cd03295	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	cd03293	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	136	cd03300	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	138	COG4136	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	137	COG4604	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	150	COG1101	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	cd03218	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	cd03261	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	301	cd03215	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	COG1120	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	148	COG1137	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	161	COG1126	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	cd03213	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	cd03244	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	140	COG4133	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	746	COG4608	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	COG4175	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175	COG1117	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	COG1118	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	156	COG1121	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	154	COG3845	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	132	COG4152	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	COG0411	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	166	cd03248	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	464	COG0444	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	144	cd03245	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	161	cd03291	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	134	COG4148	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	151	COG4167	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	158	cd03226	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03225	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1271	cd00267	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	150	cd03235	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	207	cd03214	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	211	COG0396	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	475	COG4988	105990541,NP_000341
24	6707663	Disease	p.Ser1063Pro	VAR_012558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012558	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	181	COG4586	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	258	smart00382	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	502	COG4987	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	276	cd03249	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	165	cd03224	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	151	cd03254	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	169	COG0410	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	215	COG1119	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	473	COG4615	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	204	cd03233	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	412	COG5265	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	689	COG2274	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	147	COG4619	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	425	COG3839	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	149	COG4525	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	490	COG1122	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	162	COG4107	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	COG1129	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	210	COG0488	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	164	COG1116	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	380	COG3842	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	259	COG1124	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	166	COG3638	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1394	COG1132	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	148	COG4138	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1253	cd03227	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	COG1134	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	259	COG1123	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	COG4598	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	139	cd03299	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	159	COG4181	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	187	cd03234	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	170	COG1127	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	138	cd03298	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	159	cd03297	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	137_G	COG3840	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	152	COG4161	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	419	cd03257	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	147	cd03296	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	COG1136	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	148	COG2884	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175_G	COG1135	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	159_G	cd03258	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	152	COG1125	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	203	COG1131	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	145	COG4559	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	261	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	169	COG4674	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	149	cd03222	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	cd03251	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	235	cd03223	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	cd03219	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	cd03369	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	138	cd03231	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	180	cd03216	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	cd03260	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	147	COG4555	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	cd03294	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	cd03253	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	194	cd03229	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	261	cd03250	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	260	cd03221	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	314	cd03228	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	161	cd03290	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	179	cd03255	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	147	cd03292	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	cd03246	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03230	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	159_G	cd03262	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	162	cd03256	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	160	cd03217	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	156	cd03266	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03220	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	166	cd03267	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	208	cd03301	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	146	cd03268	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	154	cd03247	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03259	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	166	cd03264	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	139	cd03269	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	cd03263	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	141	cd03265	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	149	cd03252	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	146	cd03295	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	cd03293	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	142_G	cd03300	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	146	COG4136	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	144	COG4604	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	158	COG1101	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	151	cd03218	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	151	cd03261	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	309	cd03215	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	208	COG1120	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	156	COG1137	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	167_G	COG1126	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	233	cd03213	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	194	cd03244	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	148	COG4133	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	754	COG4608	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	COG4175	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	183	COG1117	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	171	COG1118	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	164	COG1121	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	162	COG3845	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	140	COG4152	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	213	COG0411	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	cd03248	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	472	COG0444	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	152	cd03245	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	169	cd03291	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	140_G	COG4148	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	159	COG4167	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	166	cd03226	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	cd03225	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1283	cd00267	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	158	cd03235	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	215	cd03214	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	219	COG0396	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	483	COG4988	105990541,NP_000341
24	6707663	Disease	p.Ser1071Leu	VAR_008434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008434	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	189	COG4586	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	259	smart00382	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	503	COG4987	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	277	cd03249	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	166	cd03224	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	152	cd03254	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	170	COG0410	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	216	COG1119	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	474	COG4615	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	cd03233	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	413	COG5265	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	690	COG2274	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	148	COG4619	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	426	COG3839	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	150	COG4525	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	491	COG1122	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	COG4107	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	196	COG1129	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	211	COG0488	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	165	COG1116	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	381	COG3842	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	260	COG1124	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	167	COG3638	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1395	COG1132	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	149	COG4138	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1254	cd03227	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175	COG1134	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	260	COG1123	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	164	COG4598	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	140	cd03299	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	160	COG4181	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188	cd03234	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	171	COG1127	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	139	cd03298	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	160	cd03297	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	138	COG3840	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153	COG4161	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	420	cd03257	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	148	cd03296	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	COG1136	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	149	COG2884	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	COG1135	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	160	cd03258	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153	COG1125	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	204	COG1131	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	146	COG4559	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	262	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	170	COG4674	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	150	cd03222	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	169	cd03251	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	236	cd03223	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	187	cd03219	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	cd03369	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	139	cd03231	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	181	cd03216	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03260	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	148	COG4555	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03294	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	169	cd03253	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	cd03229	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	262	cd03250	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	261	cd03221	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	315	cd03228	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	162	cd03290	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	180	cd03255	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	148	cd03292	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	150	cd03246	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	cd03230	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	160	cd03262	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	cd03256	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	161	cd03217	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	157	cd03266	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	cd03220	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	167	cd03267	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	cd03301	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	147	cd03268	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	155	cd03247	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	cd03259	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	167	cd03264	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	140	cd03269	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	210	cd03263	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	142	cd03265	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	150	cd03252	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	147	cd03295	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	187	cd03293	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	cd03300	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	147	COG4136	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	146	COG4604	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	159	COG1101	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	152	cd03218	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	152	cd03261	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	310	cd03215	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	COG1120	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	157	COG1137	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	COG1126	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	234	cd03213	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	cd03244	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	149	COG4133	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	755	COG4608	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	COG4175	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	COG1117	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	172	COG1118	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	165	COG1121	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	COG3845	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	141	COG4152	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	214	COG0411	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175	cd03248	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	473	COG0444	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153	cd03245	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	170	cd03291	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	141	COG4148	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	160	COG4167	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	167	cd03226	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	cd03225	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1284	cd00267	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	159	cd03235	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	216	cd03214	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	220	COG0396	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	484	COG4988	105990541,NP_000341
24	6707663	Disease	p.Val1072Ala	VAR_008435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008435	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	190	COG4586	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	315	smart00382	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	519	COG4987	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	292	cd03249	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	182	cd03224	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	167	cd03254	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	COG0410	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	231	COG1119	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	489	COG4615	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	221	cd03233	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	428	COG5265	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	705	COG2274	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	COG4619	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	442	COG3839	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	165	COG4525	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	512	COG1122	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	COG4107	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	217	COG1129	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	236	COG0488	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	180	COG1116	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	396	COG3842	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	275	COG1124	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	182	COG3638	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1412	COG1132	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	164	COG4138	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1283	cd03227	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	190	COG1134	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	279	COG1123	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	179	COG4598	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	155	cd03299	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175	COG4181	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	cd03234	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	193	COG1127	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	154	cd03298	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175	cd03297	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	155	COG3840	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	COG4161	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	435	cd03257	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	cd03296	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	COG1136	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	164	COG2884	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	193	COG1135	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03258	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	COG1125	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	COG1131	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	169	COG4559	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	280	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	COG4674	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	165	cd03222	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	cd03251	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	308	cd03223	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	cd03219	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	cd03369	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	154	cd03231	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	cd03216	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	cd03260	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	COG4555	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	cd03294	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	cd03253	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	210	cd03229	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	277	cd03250	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	277	cd03221	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	332	cd03228	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03290	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	cd03255	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	cd03292	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	167	cd03246	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	cd03230	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03262	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	cd03256	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	cd03217	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	172	cd03266	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	193	cd03220	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	182	cd03267	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	224	cd03301	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	162	cd03268	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	170	cd03247	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	194	cd03259	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	182	cd03264	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	155	cd03269	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	cd03263	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	157	cd03265	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	165	cd03252	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	162	cd03295	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	cd03293	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	160	cd03300	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	162	COG4136	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	161	COG4604	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	COG1101	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	170	cd03218	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	cd03261	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	330	cd03215	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	224	COG1120	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175	COG1137	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	COG1126	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	249	cd03213	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	cd03244	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	164	COG4133	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	770	COG4608	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	200	COG4175	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	COG1117	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	187	COG1118	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	180	COG1121	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	COG3845	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	156	COG4152	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	229	COG0411	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	190	cd03248	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	488	COG0444	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	cd03245	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	cd03291	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	158	COG4148	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175	COG4167	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	182	cd03226	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	cd03225	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1313	cd00267	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	cd03235	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	239	cd03214	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	235	COG0396	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	500	COG4988	105990541,NP_000341
24	6707663	Disease	p.Glu1087Asp	VAR_012559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012559	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	COG4586	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	315	smart00382	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	519	COG4987	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	292	cd03249	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	182	cd03224	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	167	cd03254	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	COG0410	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	231	COG1119	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	489	COG4615	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	221	cd03233	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	428	COG5265	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	705	COG2274	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	COG4619	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	442	COG3839	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	165	COG4525	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	512	COG1122	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	COG4107	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	217	COG1129	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	236	COG0488	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	180	COG1116	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	396	COG3842	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	275	COG1124	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	182	COG3638	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1412	COG1132	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	164	COG4138	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1283	cd03227	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	190	COG1134	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	279	COG1123	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	179	COG4598	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	155	cd03299	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175	COG4181	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	cd03234	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	193	COG1127	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	154	cd03298	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175	cd03297	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	155	COG3840	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	COG4161	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	435	cd03257	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	cd03296	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	COG1136	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	164	COG2884	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	193	COG1135	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03258	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	COG1125	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	COG1131	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	169	COG4559	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	280	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	COG4674	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	165	cd03222	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	cd03251	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	308	cd03223	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	cd03219	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	cd03369	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	154	cd03231	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	cd03216	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	cd03260	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	COG4555	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	cd03294	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	cd03253	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	210	cd03229	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	277	cd03250	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	277	cd03221	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	332	cd03228	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03290	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	cd03255	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	cd03292	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	167	cd03246	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	cd03230	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03262	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	cd03256	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	cd03217	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	172	cd03266	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	193	cd03220	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	182	cd03267	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	224	cd03301	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	162	cd03268	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	170	cd03247	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	194	cd03259	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	182	cd03264	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	155	cd03269	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	cd03263	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	157	cd03265	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	165	cd03252	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	162	cd03295	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	cd03293	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	160	cd03300	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	162	COG4136	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	161	COG4604	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	COG1101	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	170	cd03218	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	cd03261	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	330	cd03215	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	224	COG1120	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175	COG1137	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	COG1126	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	249	cd03213	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	cd03244	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	164	COG4133	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	770	COG4608	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	200	COG4175	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	COG1117	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	187	COG1118	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	180	COG1121	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	COG3845	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	156	COG4152	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	229	COG0411	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	190	cd03248	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	488	COG0444	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	cd03245	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	cd03291	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	158	COG4148	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175	COG4167	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	182	cd03226	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	cd03225	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1313	cd00267	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	cd03235	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	239	cd03214	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	235	COG0396	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	500	COG4988	105990541,NP_000341
24	6707663	Disease	p.Glu1087Lys	VAR_008436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008436	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	COG4586	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	320	smart00382	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	523	COG4987	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	296	cd03249	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	186	cd03224	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	171	cd03254	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	189	COG0410	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	235	COG1119	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	493	COG4615	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	225	cd03233	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	432	COG5265	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	709	COG2274	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	167	COG4619	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	446	COG3839	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	169	COG4525	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	516	COG1122	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	182	COG4107	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	221	COG1129	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	240	COG0488	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	184	COG1116	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	400	COG3842	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	279	COG1124	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	186	COG3638	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	1416	COG1132	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	168	COG4138	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	1287	cd03227	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	194	COG1134	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	283	COG1123	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	183	COG4598	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	159	cd03299	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	179	COG4181	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	213	cd03234	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	197	COG1127	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	158	cd03298	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	179	cd03297	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	159	COG3840	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	172	COG4161	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	439	cd03257	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	167	cd03296	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	206	COG1136	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	168	COG2884	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	197	COG1135	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	181	cd03258	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	172	COG1125	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	229	COG1131	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	173	COG4559	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	189	COG4674	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	169	cd03222	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	188	cd03251	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	312	cd03223	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	206	cd03219	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	206	cd03369	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	158	cd03231	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	206	cd03216	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	196	cd03260	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	167	COG4555	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	196	cd03294	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	188	cd03253	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	214	cd03229	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	281	cd03250	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	281	cd03221	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	336	cd03228	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	181	cd03290	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	199	cd03255	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	167	cd03292	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	171	cd03246	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	199	cd03230	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	181	cd03262	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	182	cd03256	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	180	cd03217	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	176	cd03266	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	197	cd03220	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	186	cd03267	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	228	cd03301	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	166	cd03268	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	174	cd03247	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	198	cd03259	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	186	cd03264	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	159	cd03269	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	229	cd03263	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	161	cd03265	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	169	cd03252	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	166	cd03295	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	206	cd03293	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	164	cd03300	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	166	COG4136	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	165	COG4604	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	178	COG1101	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	174	cd03218	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	178	cd03261	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	334	cd03215	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	228	COG1120	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	179	COG1137	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	189	COG1126	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	253	cd03213	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	216	cd03244	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	168	COG4133	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	774	COG4608	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	204	COG4175	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	203	COG1117	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	191	COG1118	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	184	COG1121	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	188	COG3845	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	160	COG4152	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	233	COG0411	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	194	cd03248	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	492	COG0444	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	172	cd03245	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	189	cd03291	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	162	COG4148	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	179	COG4167	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	186	cd03226	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	205	cd03225	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	1317	cd00267	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	178	cd03235	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	243	cd03214	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	239	COG0396	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	504	COG4988	105990541,NP_000341
24	6707663	Disease	p.Gly1091Glu	VAR_012560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012560	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	209	COG4586	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	339	smart00382	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	529	COG4987	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	302	cd03249	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	cd03224	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03254	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	COG0410	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	241	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	499	COG4615	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	231	cd03233	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	438	COG5265	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	715	COG2274	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	173	COG4619	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	453	COG3839	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175	COG4525	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	522	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	227	COG1129	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	246	COG0488	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	190	COG1116	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	406	COG3842	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	285	COG1124	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	COG3638	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1422	COG1132	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	173	COG4138	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1297	cd03227	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	200	COG1134	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	289	COG1123	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	189	COG4598	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	165	cd03299	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	COG4181	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	219	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	203	COG1127	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	164	cd03298	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	cd03297	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	165	COG3840	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	445	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	173	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	COG1136	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	COG2884	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	203	COG1135	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	187	cd03258	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	COG1125	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	235	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	179	COG4559	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	COG4674	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175	cd03222	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	194	cd03251	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	318	cd03223	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	cd03369	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	164	cd03231	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	cd03260	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	173	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	cd03294	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	194	cd03253	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	220	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	287	cd03250	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	287	cd03221	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	343	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188	cd03290	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	173	cd03292	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03246	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	187	cd03262	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188	cd03256	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	cd03217	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	182	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	203	cd03220	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	cd03267	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	234	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	172	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	180	cd03247	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	204	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	165	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	235	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	167	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175	cd03252	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	172	cd03295	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	cd03293	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	170	cd03300	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	172	COG4136	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	171	COG4604	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	COG1101	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	180	cd03218	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	cd03261	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	340	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	234	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	COG1137	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	COG1126	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	259	cd03213	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	222	cd03244	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	780	COG4608	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	210	COG4175	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	COG1117	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	197	COG1118	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	190	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	194	COG3845	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	166	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	239	COG0411	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	217	cd03248	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	498	COG0444	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	cd03245	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	cd03291	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	COG4148	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	COG4167	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	211	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1327	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	249	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	245	COG0396	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	510	COG4988	105990541,NP_000341
24	6707663	Disease	p.Arg1097Cys	VAR_012561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012561	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	215	COG4586	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	596	smart00382	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	540	COG4987	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	313	cd03249	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	203	cd03224	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	188	cd03254	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	206	COG0410	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	252	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	512	COG4615	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	244	cd03233	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	449	COG5265	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	726	COG2274	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	184	COG4619	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	467	COG3839	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	188	COG4525	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	533	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	201	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	238	COG1129	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	258	COG0488	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	201	COG1116	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	417	COG3842	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	296	COG1124	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	205	COG3638	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	1435	COG1132	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	186	COG4138	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	1308	cd03227	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	212	COG1134	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	300	COG1123	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	201	COG4598	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	176	cd03299	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	198	COG4181	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	231	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	216	COG1127	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	175	cd03298	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	196	cd03297	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	176	COG3840	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	189	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	456	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	186	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	224	COG1136	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	186	COG2884	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	216	COG1135	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	198	cd03258	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	191	COG1125	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	246	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	190	COG4559	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	206	COG4674	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	188_G	cd03222	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	205	cd03251	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	329	cd03223	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	223	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	223	cd03369	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	176	cd03231	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	223	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	213	cd03260	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	184	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	215	cd03294	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	205	cd03253	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	231	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	300	cd03250	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	298	cd03221	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	354	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	199	cd03290	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	216	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	185	cd03292	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	188	cd03246	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	217	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	200	cd03262	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	201	cd03256	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	197	cd03217	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	193	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	214	cd03220	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	203	cd03267	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	247	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	183	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	191	cd03247	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	215	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	203	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	177	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	246	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	180	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	186	cd03252	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	185	cd03295	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	225	cd03293	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	183	cd03300	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	184	COG4136	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	184	COG4604	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	195	COG1101	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	191	cd03218	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	195	cd03261	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	351	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	245	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	196	COG1137	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	207	COG1126	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	270	cd03213	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	233	cd03244	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	186	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	791	COG4608	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	221	COG4175	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	220	COG1117	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	208	COG1118	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	201	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	206	COG3845	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	177	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	250	COG0411	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	228	cd03248	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	509	COG0444	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	189	cd03245	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	207	cd03291	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	179	COG4148	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	198	COG4167	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	204	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	222	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	1338	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	195	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	260	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	256	COG0396	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	521	COG4988	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	228	COG4586	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	596	smart00382	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	540	COG4987	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	313	cd03249	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	203	cd03224	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188	cd03254	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	COG0410	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	252	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	512	COG4615	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	244	cd03233	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	449	COG5265	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	726	COG2274	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	COG4619	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	467	COG3839	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188	COG4525	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	533	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	238	COG1129	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	258	COG0488	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	COG1116	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	417	COG3842	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	296	COG1124	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	COG3638	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1435	COG1132	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	COG4138	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1308	cd03227	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	COG1134	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	300	COG1123	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	COG4598	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	cd03299	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	COG4181	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	231	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	216	COG1127	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175	cd03298	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	196	cd03297	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	COG3840	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	189	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	456	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	224	COG1136	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	COG2884	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	216	COG1135	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	cd03258	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	191	COG1125	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	246	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	190	COG4559	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	COG4674	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188_G	cd03222	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	cd03251	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	329	cd03223	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	223	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	223	cd03369	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	cd03231	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	223	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	213	cd03260	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	215	cd03294	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	cd03253	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	231	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	300	cd03250	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	298	cd03221	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	354	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	cd03290	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	216	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	cd03292	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188	cd03246	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	217	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	200	cd03262	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	cd03256	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	197	cd03217	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	193	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	214	cd03220	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	203	cd03267	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	247	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	183	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	191	cd03247	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	215	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	203	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	246	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	180	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	cd03252	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	cd03295	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	cd03293	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	183	cd03300	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	COG4136	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	COG4604	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	COG1101	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	191	cd03218	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	cd03261	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	351	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	245	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	196	COG1137	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	207	COG1126	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	270	cd03213	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	233	cd03244	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	791	COG4608	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	221	COG4175	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	220	COG1117	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	208	COG1118	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	COG3845	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	250	COG0411	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	228	cd03248	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	509	COG0444	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	189	cd03245	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	207	cd03291	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	179	COG4148	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	COG4167	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	204	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	222	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1338	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	260	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	256	COG0396	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	521	COG4988	105990541,NP_000341
24	6707663	Disease	p.Arg1108Cys	VAR_012562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012562	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	228	COG4586	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	596	smart00382	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	540	COG4987	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	313	cd03249	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	203	cd03224	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188	cd03254	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	COG0410	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	252	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	512	COG4615	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	244	cd03233	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	449	COG5265	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	726	COG2274	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	COG4619	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	467	COG3839	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188	COG4525	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	533	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	238	COG1129	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	258	COG0488	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	COG1116	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	417	COG3842	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	296	COG1124	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	COG3638	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1435	COG1132	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	COG4138	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1308	cd03227	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	COG1134	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	300	COG1123	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	COG4598	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	cd03299	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	COG4181	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	231	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	216	COG1127	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175	cd03298	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	196	cd03297	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	COG3840	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	189	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	456	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	224	COG1136	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	COG2884	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	216	COG1135	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	cd03258	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	191	COG1125	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	246	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	190	COG4559	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	COG4674	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188_G	cd03222	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	cd03251	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	329	cd03223	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	223	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	223	cd03369	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	cd03231	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	223	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	213	cd03260	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	215	cd03294	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	cd03253	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	231	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	300	cd03250	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	298	cd03221	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	354	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	cd03290	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	216	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	cd03292	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188	cd03246	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	217	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	200	cd03262	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	cd03256	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	197	cd03217	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	193	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	214	cd03220	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	203	cd03267	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	247	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	183	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	191	cd03247	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	215	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	203	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	246	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	180	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	cd03252	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	cd03295	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	cd03293	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	183	cd03300	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	COG4136	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	COG4604	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	COG1101	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	191	cd03218	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	cd03261	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	351	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	245	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	196	COG1137	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	207	COG1126	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	270	cd03213	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	233	cd03244	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	791	COG4608	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	221	COG4175	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	220	COG1117	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	208	COG1118	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	COG3845	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	250	COG0411	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	228	cd03248	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	509	COG0444	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	189	cd03245	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	207	cd03291	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	179	COG4148	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	COG4167	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	204	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	222	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1338	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	260	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	256	COG0396	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	521	COG4988	105990541,NP_000341
24	6707663	Disease	p.Arg1108His	VAR_012563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012563	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	228	COG4586	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	596	smart00382	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	540	COG4987	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	313	cd03249	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	203	cd03224	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188	cd03254	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	COG0410	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	252	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	512	COG4615	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	244	cd03233	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	449	COG5265	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	726	COG2274	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	COG4619	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	467	COG3839	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188	COG4525	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	533	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	238	COG1129	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	258	COG0488	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	COG1116	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	417	COG3842	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	296	COG1124	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	COG3638	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1435	COG1132	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	COG4138	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1308	cd03227	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	COG1134	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	300	COG1123	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	COG4598	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	cd03299	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	COG4181	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	231	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	216	COG1127	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175	cd03298	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	196	cd03297	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	COG3840	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	189	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	456	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	224	COG1136	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	COG2884	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	216	COG1135	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	cd03258	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	191	COG1125	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	246	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	190	COG4559	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	COG4674	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188_G	cd03222	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	cd03251	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	329	cd03223	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	223	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	223	cd03369	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	cd03231	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	223	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	213	cd03260	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	215	cd03294	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	cd03253	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	231	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	300	cd03250	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	298	cd03221	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	354	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	cd03290	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	216	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	cd03292	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188	cd03246	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	217	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	200	cd03262	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	cd03256	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	197	cd03217	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	193	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	214	cd03220	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	203	cd03267	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	247	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	183	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	191	cd03247	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	215	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	203	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	246	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	180	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	cd03252	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	cd03295	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	cd03293	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	183	cd03300	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	COG4136	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	COG4604	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	COG1101	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	191	cd03218	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	cd03261	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	351	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	245	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	196	COG1137	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	207	COG1126	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	270	cd03213	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	233	cd03244	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	186	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	791	COG4608	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	221	COG4175	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	220	COG1117	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	208	COG1118	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	COG3845	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	250	COG0411	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	228	cd03248	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	509	COG0444	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	189	cd03245	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	207	cd03291	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	179	COG4148	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	COG4167	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	204	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	222	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1338	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	260	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	256	COG0396	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	521	COG4988	105990541,NP_000341
24	6707663	Disease	p.Arg1108Leu	VAR_012564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012564	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	228	COG4586	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	606	smart00382	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	546	COG4987	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	321	cd03249	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	210	cd03224	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	cd03254	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	213	COG0410	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	259	COG1119	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	516	COG4615	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	248	cd03233	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	455	COG5265	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	731	COG2274	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	COG4619	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	476	COG3839	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	COG4525	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	539	COG1122	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	COG4107	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	244	COG1129	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	264	COG0488	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	210	COG1116	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	424	COG3842	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	302	COG1124	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	COG3638	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1445	COG1132	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	190	COG4138	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1317	cd03227	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	217	COG1134	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	307	COG1123	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	COG4598	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	182	cd03299	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	COG4181	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	302	cd03234	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	222	COG1127	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	181	cd03298	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	cd03297	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	182	COG3840	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	194	COG4161	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	463	cd03257	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	190	cd03296	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	229	COG1136	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	190	COG2884	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	220	COG1135	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	204	cd03258	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	COG1125	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	253	COG1131	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	COG4559	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	210	COG4674	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	cd03222	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	cd03251	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	333	cd03223	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	230	cd03219	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	227	cd03369	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	180	cd03231	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	229	cd03216	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	222	cd03260	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	189	COG4555	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	219	cd03294	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	216	cd03253	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	237	cd03229	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	308	cd03250	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	305	cd03221	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	367	cd03228	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	cd03290	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	223	cd03255	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	189	cd03292	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	193	cd03246	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	224	cd03230	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	204	cd03262	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	cd03256	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	218	cd03217	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	cd03266	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	220	cd03220	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	cd03267	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	251	cd03301	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	189	cd03268	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	cd03247	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	222	cd03259	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	208	cd03264	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	181	cd03269	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	275	cd03263	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	cd03265	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	190	cd03252	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	189	cd03295	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	232	cd03293	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	187	cd03300	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	189	COG4136	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188	COG4604	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	COG1101	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	cd03218	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	210	cd03261	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	357	cd03215	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	251	COG1120	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	200	COG1137	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	COG1126	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	298	cd03213	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	238	cd03244	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	190	COG4133	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	797	COG4608	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	227	COG4175	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	226	COG1117	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	214	COG1118	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	207	COG1121	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	211	COG3845	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	182	COG4152	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	257	COG0411	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	262	cd03248	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	516	COG0444	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	194	cd03245	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	211	cd03291	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	183	COG4148	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	COG4167	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	208	cd03226	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	230	cd03225	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1349	cd00267	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	cd03235	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	266	cd03214	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	272	COG0396	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	526	COG4988	105990541,NP_000341
24	6707663	Disease	p.Thr1112Asn	VAR_008437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008437	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	232	COG4586	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	647	smart00382	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	556	COG4987	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	335	cd03249	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	220	cd03224	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	205	cd03254	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	223	COG0410	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	269	COG1119	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	524	COG4615	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	259	cd03233	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	468	COG5265	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	741	COG2274	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	202	COG4619	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	486	COG3839	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	202	COG4525	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	549	COG1122	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	215	COG4107	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	255	COG1129	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	274	COG0488	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	220	COG1116	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	434	COG3842	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	312	COG1124	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	219	COG3638	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	1457	COG1132	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	200	COG4138	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	1327	cd03227	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	227	COG1134	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	317	COG1123	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	215	COG4598	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	192	cd03299	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	212	COG4181	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	313	cd03234	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	232	COG1127	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	191	cd03298	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	212	cd03297	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	192	COG3840	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	204	COG4161	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	473	cd03257	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	200	cd03296	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	239	COG1136	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	200	COG2884	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	230	COG1135	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	214	cd03258	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	205	COG1125	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	263	COG1131	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	206	COG4559	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	220	COG4674	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	202	cd03222	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	225	cd03251	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	343	cd03223	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	240	cd03219	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	237	cd03369	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	188_G	cd03231	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	239	cd03216	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	232	cd03260	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	199	COG4555	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	229	cd03294	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	226	cd03253	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	247	cd03229	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	318	cd03250	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	315	cd03221	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	377	cd03228	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	215	cd03290	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	233	cd03255	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	199	cd03292	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	203	cd03246	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	234	cd03230	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	214	cd03262	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	219	cd03256	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	228	cd03217	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	211	cd03266	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	230	cd03220	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	219	cd03267	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	261	cd03301	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	199	cd03268	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	202_G	cd03247	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	232	cd03259	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	218	cd03264	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	191	cd03269	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	285	cd03263	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	194	cd03265	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	199_G	cd03252	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	199	cd03295	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	242	cd03293	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	197	cd03300	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	199	COG4136	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	225	COG4604	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	211	COG1101	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	207	cd03218	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	220	cd03261	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	367	cd03215	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	261	COG1120	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	212	COG1137	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	222	COG1126	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	308	cd03213	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	247_G	cd03244	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	198	COG4133	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	807	COG4608	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	237	COG4175	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	236	COG1117	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	224	COG1118	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	217	COG1121	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	221	COG3845	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	192	COG4152	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	267	COG0411	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	272	cd03248	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	526	COG0444	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	203	cd03245	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	220	cd03291	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	195	COG4148	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	212	COG4167	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	218	cd03226	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	240	cd03225	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	1359	cd00267	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	211	cd03235	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	276	cd03214	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	282	COG0396	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	536	COG4988	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	242	COG4586	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	647	smart00382	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	556	COG4987	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	335	cd03249	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	220	cd03224	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	cd03254	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	223	COG0410	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	269	COG1119	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	524	COG4615	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	259	cd03233	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	468	COG5265	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	741	COG2274	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	COG4619	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	486	COG3839	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	COG4525	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	549	COG1122	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	215	COG4107	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	255	COG1129	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	274	COG0488	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	220	COG1116	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	434	COG3842	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	312	COG1124	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	219	COG3638	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1457	COG1132	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	200	COG4138	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1327	cd03227	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	227	COG1134	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	317	COG1123	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	215	COG4598	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	cd03299	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	COG4181	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	313	cd03234	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	232	COG1127	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	191	cd03298	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	cd03297	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	COG3840	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	204	COG4161	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	473	cd03257	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	200	cd03296	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	239	COG1136	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	200	COG2884	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	230	COG1135	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	214	cd03258	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	COG1125	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	263	COG1131	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	COG4559	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	220	COG4674	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	cd03222	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	cd03251	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	343	cd03223	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	240	cd03219	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	237	cd03369	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188_G	cd03231	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	239	cd03216	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	232	cd03260	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	COG4555	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	229	cd03294	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	226	cd03253	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	247	cd03229	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	318	cd03250	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	315	cd03221	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	377	cd03228	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	215	cd03290	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	233	cd03255	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	cd03292	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	203	cd03246	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	234	cd03230	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	214	cd03262	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	219	cd03256	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	228	cd03217	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	211	cd03266	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	230	cd03220	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	219	cd03267	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	261	cd03301	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	cd03268	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202_G	cd03247	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	232	cd03259	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	218	cd03264	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	191	cd03269	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	285	cd03263	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	194	cd03265	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199_G	cd03252	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	cd03295	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	242	cd03293	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	197	cd03300	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	COG4136	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	COG4604	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	211	COG1101	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	207	cd03218	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	220	cd03261	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	367	cd03215	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	261	COG1120	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	COG1137	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	222	COG1126	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	308	cd03213	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	247_G	cd03244	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	COG4133	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	807	COG4608	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	237	COG4175	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	236	COG1117	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	224	COG1118	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	217	COG1121	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	221	COG3845	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	COG4152	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	267	COG0411	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	272	cd03248	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	526	COG0444	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	203	cd03245	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	220	cd03291	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	COG4148	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	COG4167	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	218	cd03226	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	240	cd03225	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1359	cd00267	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	211	cd03235	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	276	cd03214	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	282	COG0396	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	536	COG4988	105990541,NP_000341
24	6707663	Disease	p.Glu1122Lys	VAR_008438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008438	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	242	COG4586	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	654	smart00382	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	562	COG4987	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	338	cd03249	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	227	cd03224	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	208_G	cd03254	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	230	COG0410	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	276	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	532	COG4615	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	266	cd03233	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	471_G	COG5265	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	747	COG2274	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	COG4619	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	493	COG3839	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	COG4525	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	556	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	222	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	262	COG1129	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	281	COG0488	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	235	COG1116	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	441	COG3842	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	319	COG1124	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	226	COG3638	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1464	COG1132	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	207	COG4138	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1342	cd03227	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	234	COG1134	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	324	COG1123	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	222	COG4598	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	cd03299	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	218	COG4181	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	320	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	239	COG1127	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	cd03298	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	219	cd03297	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	COG3840	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	211	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	485	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	207	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	246	COG1136	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	208	COG2884	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	237	COG1135	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	221	cd03258	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	COG1125	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	279	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	213	COG4559	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	230	COG4674	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	cd03222	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	231	cd03251	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	355	cd03223	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	248	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	243	cd03369	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	cd03231	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	247	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	239	cd03260	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	236	cd03294	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	232	cd03253	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	254	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	329	cd03250	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	323	cd03221	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	385	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	221	cd03290	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	241	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	cd03292	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	cd03246	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	244	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	221	cd03262	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	226	cd03256	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	237	cd03217	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	218	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	237	cd03220	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	226	cd03267	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	268	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	211	cd03247	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	240	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	292	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	cd03252	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	cd03295	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	249	cd03293	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	204	cd03300	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	COG4136	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	238	COG4604	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	218	COG1101	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	214	cd03218	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	227	cd03261	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	374	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	269	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	219	COG1137	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	229	COG1126	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	316	cd03213	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	254	cd03244	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	819	COG4608	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	244	COG4175	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	243	COG1117	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	231	COG1118	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	224	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	228	COG3845	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	274	COG0411	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	278	cd03248	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	534	COG0444	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	210	cd03245	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	227	cd03291	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	COG4148	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	219	COG4167	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	248	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1375	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	219	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	283	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	292	COG0396	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	542	COG4988	105990541,NP_000341
24	6707663	Disease	p.Arg1129Cys	VAR_012565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012565	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	249	COG4586	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	654	smart00382	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	562	COG4987	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	338	cd03249	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	227	cd03224	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	208_G	cd03254	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	230	COG0410	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	276	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	532	COG4615	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	266	cd03233	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	471_G	COG5265	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	747	COG2274	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	209	COG4619	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	493	COG3839	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	209	COG4525	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	556	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	222	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	262	COG1129	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	281	COG0488	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	235	COG1116	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	441	COG3842	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	319	COG1124	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	226	COG3638	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	1464	COG1132	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	207	COG4138	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	1342	cd03227	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	234	COG1134	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	324	COG1123	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	222	COG4598	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	199	cd03299	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	218	COG4181	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	320	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	239	COG1127	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	198	cd03298	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	219	cd03297	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	199	COG3840	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	211	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	485	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	207	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	246	COG1136	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	208	COG2884	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	237	COG1135	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	221	cd03258	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	212	COG1125	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	279	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	213	COG4559	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	230	COG4674	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	209	cd03222	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	231	cd03251	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	355	cd03223	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	248	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	243	cd03369	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	192	cd03231	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	247	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	239	cd03260	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	206	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	236	cd03294	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	232	cd03253	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	254	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	329	cd03250	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	323	cd03221	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	385	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	221	cd03290	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	241	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	206	cd03292	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	209	cd03246	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	244	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	221	cd03262	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	226	cd03256	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	237	cd03217	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	218	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	237	cd03220	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	226	cd03267	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	268	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	206	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	211	cd03247	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	240	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	225	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	198	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	292	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	201	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	206	cd03252	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	206	cd03295	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	249	cd03293	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	204	cd03300	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	206	COG4136	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	238	COG4604	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	218	COG1101	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	214	cd03218	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	227	cd03261	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	374	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	269	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	219	COG1137	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	229	COG1126	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	316	cd03213	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	254	cd03244	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	205	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	819	COG4608	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	244	COG4175	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	243	COG1117	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	231	COG1118	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	224	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	228	COG3845	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	199	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	274	COG0411	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	278	cd03248	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	534	COG0444	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	210	cd03245	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	227	cd03291	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	202	COG4148	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	219	COG4167	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	225	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	248	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	1375	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	219	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	283	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	292	COG0396	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	542	COG4988	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	249	COG4586	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	654	smart00382	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	562	COG4987	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	338	cd03249	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	227	cd03224	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	208_G	cd03254	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	230	COG0410	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	276	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	532	COG4615	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	266	cd03233	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	471_G	COG5265	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	747	COG2274	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	209	COG4619	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	493	COG3839	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	209	COG4525	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	556	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	222	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	262	COG1129	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	281	COG0488	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	235	COG1116	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	441	COG3842	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	319	COG1124	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	226	COG3638	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	1464	COG1132	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	207	COG4138	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	1342	cd03227	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	234	COG1134	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	324	COG1123	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	222	COG4598	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	199	cd03299	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	218	COG4181	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	320	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	239	COG1127	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	198	cd03298	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	219	cd03297	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	199	COG3840	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	211	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	485	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	207	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	246	COG1136	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	208	COG2884	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	237	COG1135	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	221	cd03258	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	212	COG1125	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	279	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	213	COG4559	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	230	COG4674	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	209	cd03222	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	231	cd03251	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	355	cd03223	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	248	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	243	cd03369	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	192	cd03231	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	247	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	239	cd03260	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	206	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	236	cd03294	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	232	cd03253	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	254	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	329	cd03250	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	323	cd03221	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	385	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	221	cd03290	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	241	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	206	cd03292	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	209	cd03246	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	244	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	221	cd03262	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	226	cd03256	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	237	cd03217	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	218	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	237	cd03220	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	226	cd03267	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	268	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	206	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	211	cd03247	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	240	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	225	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	198	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	292	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	201	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	206	cd03252	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	206	cd03295	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	249	cd03293	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	204	cd03300	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	206	COG4136	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	238	COG4604	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	218	COG1101	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	214	cd03218	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	227	cd03261	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	374	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	269	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	219	COG1137	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	229	COG1126	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	316	cd03213	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	254	cd03244	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	205	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	819	COG4608	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	244	COG4175	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	243	COG1117	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	231	COG1118	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	224	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	228	COG3845	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	199	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	274	COG0411	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	278	cd03248	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	534	COG0444	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	210	cd03245	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	227	cd03291	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	202	COG4148	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	219	COG4167	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	225	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	248	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	1375	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	219	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	283	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	292	COG0396	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	542	COG4988	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	249	COG4586	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	654	smart00382	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	562	COG4987	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	338	cd03249	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	227	cd03224	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	208_G	cd03254	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	230	COG0410	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	276	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	532	COG4615	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	266	cd03233	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	471_G	COG5265	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	747	COG2274	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	COG4619	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	493	COG3839	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	COG4525	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	556	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	222	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	262	COG1129	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	281	COG0488	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	235	COG1116	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	441	COG3842	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	319	COG1124	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	226	COG3638	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1464	COG1132	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	207	COG4138	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1342	cd03227	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	234	COG1134	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	324	COG1123	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	222	COG4598	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	cd03299	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	218	COG4181	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	320	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	239	COG1127	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	cd03298	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	219	cd03297	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	COG3840	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	211	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	485	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	207	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	246	COG1136	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	208	COG2884	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	237	COG1135	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	221	cd03258	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	COG1125	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	279	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	213	COG4559	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	230	COG4674	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	cd03222	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	231	cd03251	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	355	cd03223	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	248	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	243	cd03369	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	cd03231	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	247	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	239	cd03260	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	236	cd03294	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	232	cd03253	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	254	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	329	cd03250	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	323	cd03221	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	385	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	221	cd03290	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	241	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	cd03292	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	cd03246	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	244	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	221	cd03262	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	226	cd03256	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	237	cd03217	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	218	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	237	cd03220	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	226	cd03267	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	268	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	211	cd03247	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	240	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	292	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	cd03252	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	cd03295	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	249	cd03293	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	204	cd03300	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	COG4136	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	238	COG4604	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	218	COG1101	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	214	cd03218	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	227	cd03261	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	374	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	269	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	219	COG1137	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	229	COG1126	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	316	cd03213	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	254	cd03244	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	819	COG4608	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	244	COG4175	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	243	COG1117	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	231	COG1118	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	224	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	228	COG3845	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	274	COG0411	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	278	cd03248	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	534	COG0444	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	210	cd03245	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	227	cd03291	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	COG4148	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	219	COG4167	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	248	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1375	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	219	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	283	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	292	COG0396	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	542	COG4988	105990541,NP_000341
24	6707663	Disease	p.Arg1129Leu	VAR_008439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008439	rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	249	COG4586	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	VAR_008440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008440	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	599	COG3839	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	VAR_008440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008440	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	352	COG1129	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	VAR_008440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008440	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	465	COG0488	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	VAR_008440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008440	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	533	COG3842	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	VAR_008440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008440	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	467	COG1123	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	VAR_008440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008440	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	348	COG1135	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	VAR_008440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008440	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	355	COG1125	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	VAR_008440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008440	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	364	COG1131	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	VAR_008440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008440	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	924	COG4608	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	VAR_008440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008440	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	329	COG4175	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	VAR_008440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008440	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	314	COG1118	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	VAR_008440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008440	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	425	COG3845	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	VAR_008440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008440	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	294	COG4152	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	VAR_008440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008440	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	630	COG0444	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	VAR_008440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008440	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	316	COG4148	105990541,NP_000341
24	6707663	Disease	p.Leu1201Arg	VAR_008440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008440	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	323	COG4586	105990541,NP_000341
24	6707663	Disease	p.Asp1204Asn	VAR_008441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008441	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	602	COG3839	105990541,NP_000341
24	6707663	Disease	p.Asp1204Asn	VAR_008441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008441	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	355	COG1129	105990541,NP_000341
24	6707663	Disease	p.Asp1204Asn	VAR_008441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008441	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	468	COG0488	105990541,NP_000341
24	6707663	Disease	p.Asp1204Asn	VAR_008441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008441	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	536	COG3842	105990541,NP_000341
24	6707663	Disease	p.Asp1204Asn	VAR_008441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008441	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	498	COG1123	105990541,NP_000341
24	6707663	Disease	p.Asp1204Asn	VAR_008441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008441	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	351	COG1135	105990541,NP_000341
24	6707663	Disease	p.Asp1204Asn	VAR_008441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008441	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	358	COG1125	105990541,NP_000341
24	6707663	Disease	p.Asp1204Asn	VAR_008441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008441	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	367	COG1131	105990541,NP_000341
24	6707663	Disease	p.Asp1204Asn	VAR_008441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008441	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	927	COG4608	105990541,NP_000341
24	6707663	Disease	p.Asp1204Asn	VAR_008441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008441	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	341	COG4175	105990541,NP_000341
24	6707663	Disease	p.Asp1204Asn	VAR_008441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008441	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	326	COG1118	105990541,NP_000341
24	6707663	Disease	p.Asp1204Asn	VAR_008441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008441	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	444	COG3845	105990541,NP_000341
24	6707663	Disease	p.Asp1204Asn	VAR_008441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008441	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	304	COG4152	105990541,NP_000341
24	6707663	Disease	p.Asp1204Asn	VAR_008441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008441	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	636	COG0444	105990541,NP_000341
24	6707663	Disease	p.Asp1204Asn	VAR_008441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008441	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	319	COG4148	105990541,NP_000341
24	6707663	Disease	p.Asp1204Asn	VAR_008441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008441	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	326	COG4586	105990541,NP_000341
24	6707663	Disease	p.Leu1250Pro	VAR_012567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012567	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	440	COG1129	105990541,NP_000341
24	6707663	Disease	p.Leu1250Pro	VAR_012567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012567	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	637	COG0488	105990541,NP_000341
24	6707663	Disease	p.Leu1250Pro	VAR_012567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012567	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	595	COG3842	105990541,NP_000341
24	6707663	Disease	p.Leu1250Pro	VAR_012567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012567	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	585	COG1123	105990541,NP_000341
24	6707663	Disease	p.Leu1250Pro	VAR_012567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012567	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	415	COG1131	105990541,NP_000341
24	6707663	Disease	p.Leu1250Pro	VAR_012567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012567	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	535	COG3845	105990541,NP_000341
24	6707663	Disease	p.Thr1253Met	VAR_012568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012568	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	447	COG1129	105990541,NP_000341
24	6707663	Disease	p.Thr1253Met	VAR_012568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012568	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	640	COG0488	105990541,NP_000341
24	6707663	Disease	p.Thr1253Met	VAR_012568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012568	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	598	COG3842	105990541,NP_000341
24	6707663	Disease	p.Thr1253Met	VAR_012568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012568	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	588	COG1123	105990541,NP_000341
24	6707663	Disease	p.Thr1253Met	VAR_012568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012568	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	418	COG1131	105990541,NP_000341
24	6707663	Disease	p.Thr1253Met	VAR_012568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012568	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	550	COG3845	105990541,NP_000341
24	6707663	Disease	p.Arg1300Gln	VAR_012569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012569	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	517_G	COG1129	105990541,NP_000341
24	6707663	Disease	p.Arg1300Gln	VAR_012569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012569	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	743	COG1123	105990541,NP_000341
24	6707663	Disease	p.Pro1380Leu	VAR_008443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008443	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Leu1388Pro	VAR_012570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012570	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Glu1399Lys	VAR_012571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012571	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.His1406Tyr	VAR_008444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008444	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Trp1408Leu	VAR_008445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008445	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Trp1408Arg	VAR_008446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008446	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Thr1428Met	VAR_008447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008447	rs1800549 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Val1429Ala	VAR_008448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008448	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Leu1430Pro	VAR_012572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012572	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Val1433Ile	VAR_008449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008449	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Gly1439Asp	VAR_008450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008450	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Phe1440Ser	VAR_008451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008451	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Phe1440Val	VAR_012573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012573	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg1443His	VAR_012574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012574	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Pro1486Leu	VAR_008452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008452	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Cys1488Phe	VAR_012575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012575	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Cys1488Arg	VAR_008453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008453	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Cys1488Arg	VAR_008453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008453	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Cys1488Tyr	VAR_012576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012576	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Cys1490Tyr	VAR_008454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008454	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Cys1490Tyr	VAR_008454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008454	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Gly1508Cys	VAR_012577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012577	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Gln1513Arg	VAR_012578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012578	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg1517Ser	VAR_008455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008455	rs1800550 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Leu1525Pro	VAR_012579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012579	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Thr1526Met	VAR_008456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008456	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Asp1532Asn	VAR_008457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008457	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Thr1537Met	VAR_012580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012580	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ile1562Thr	VAR_008458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008458	rs1762111 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ile1562Thr	VAR_008458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008458	rs1762111 Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ile1562Thr	VAR_008458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008458	rs1762111 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ile1562Thr	VAR_008458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008458	rs1762111 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Gly1578Arg	VAR_008459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008459	rs1800551 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ala1598Asp	VAR_012581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012581	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Leu1631Pro	VAR_008460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008460	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg1640Gln	VAR_012583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012583	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg1640Gln	VAR_012583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012583	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg1640Gln	VAR_012583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012583	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg1640Trp	VAR_008461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008461	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg1640Trp	VAR_008461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008461	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Tyr1652Asp	VAR_008462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008462	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ser1689Pro	VAR_012585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012585	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Val1693Ile	VAR_012586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012586	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ser1696Asn	VAR_008463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008463	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Gln1703Lys	VAR_008464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008464	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg1705Leu	VAR_012587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012587	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Leu1729Pro	VAR_008465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008465	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Met1733Thr	VAR_012588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012588	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ser1736Pro	VAR_012589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012589	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Gly1748Arg	VAR_012590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012590	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Leu1763Pro	VAR_012592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012592	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Pro1776Leu	VAR_012593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012593	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Pro1780Ala	VAR_012594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012594	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Ala1794Asp	VAR_008466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008466	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Asn1799Asp	VAR_012595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012595	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Asn1805Asp	VAR_012596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012596	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg1820Pro	VAR_008467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008467	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.His1838Tyr	VAR_008468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008468	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg1843Trp	VAR_008469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008469	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Val1884Glu	VAR_012598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012598	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Glu1885Lys	VAR_012599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012599	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Gly1886Glu	VAR_008471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008471	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Val1896Asp	VAR_012600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012600	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg1898His	VAR_008473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008473	rs1800552 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Arg1898His	VAR_008473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008473	rs1800552 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	4	COG4555	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	4	cd03266	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	4	cd03257	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	3	cd03229	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	3	cd03228	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	3	cd03219	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	3	cd03236	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	3	cd03255	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	3	cd03230	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	5	COG4161	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	3	cd03263	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	3	cd03265	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	3	cd03216	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	5	cd03296	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	3	cd03264	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	3	cd03268	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	3	cd03259	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	3	cd03269	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	3	cd03301	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	6	COG1122	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	6	cd03234	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	5	COG4152	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	5	COG4133	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	5	COG1120	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	7	COG1121	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	7	cd03215	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	7	COG4778	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	7	COG1131	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	55	COG1119	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	10	COG4107	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	2	cd03225	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	2	cd00267	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	2	cd03226	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	2	cd03235	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	2	cd03214	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	4	COG4555	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	4	cd03266	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	4	cd03257	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03229	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03228	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03219	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03236	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03255	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03230	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	COG4161	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03263	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03265	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03216	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	cd03296	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03264	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03268	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03259	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03269	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	3	cd03301	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	6	COG1122	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	6	cd03234	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	COG4152	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	COG4133	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	5	COG1120	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	COG1121	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	cd03215	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	COG4778	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	7	COG1131	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	COG1119	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	10	COG4107	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	2	cd03225	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	2	cd00267	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	2	cd03226	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	2	cd03235	105990541,NP_000341
24	6707663	Disease	p.Leu1940Pro	VAR_012602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012602	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	2	cd03214	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	27	COG4555	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	36	cd03266	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	39	cd03257	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	46	cd03229	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	56	cd03228	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	22	cd03219	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	22_G	cd03236	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	28	cd03255	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	45	cd03230	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	24	COG4161	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	49	cd03263	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	22	cd03265	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	32	cd03216	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	25	cd03296	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	43	cd03264	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	23	cd03268	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	46	cd03259	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	22	cd03269	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	45	cd03301	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	31	COG1122	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	36	cd03234	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	24	COG4152	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	28	COG4133	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	29	COG1120	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	28	COG1121	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	53	cd03215	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	33	COG4778	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	50	COG1131	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	74	COG1119	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	29	COG4107	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	39	cd03225	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	55	cd00267	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	24	cd03226	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	23	cd03235	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	37	cd03214	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	14	cd03232	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	27	COG4555	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	36	cd03266	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	39	cd03257	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03229	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	56	cd03228	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	22	cd03219	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	22_G	cd03236	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	28	cd03255	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	cd03230	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	24	COG4161	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	cd03263	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	22	cd03265	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	32	cd03216	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	25	cd03296	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	cd03264	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	23	cd03268	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03259	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	22	cd03269	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	cd03301	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	31	COG1122	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	36	cd03234	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	24	COG4152	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	28	COG4133	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	COG1120	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	28	COG1121	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	cd03215	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	33	COG4778	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	COG1131	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	74	COG1119	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	29	COG4107	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	39	cd03225	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	cd00267	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	24	cd03226	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	23	cd03235	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	cd03214	105990541,NP_000341
24	6707663	Disease	p.Gly1961Glu	VAR_008475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008475	rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	14	cd03232	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	7	smart00382	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	36	COG4555	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	45	cd03266	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	48	cd03257	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	55	cd03229	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	65	cd03228	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	33	cd03219	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	31	cd03236	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	44	cd03255	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	55	cd03230	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	33	COG4161	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	59	cd03263	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	31	cd03265	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	41	cd03216	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	34	cd03296	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	52	cd03264	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	32	cd03268	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	55	cd03259	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	31	cd03269	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	54	cd03301	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	40	COG1122	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	45	cd03234	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	33	COG4152	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	37	COG4133	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	39	COG1120	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	38	COG1121	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	62	cd03215	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	42	COG4778	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	60	COG1131	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	83	COG1119	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	38	COG4107	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	48	cd03225	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	88	cd00267	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	33	cd03226	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	33	cd03235	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	47	cd03214	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]	SWISS	48	cd03232	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	7	smart00382	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	36	COG4555	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	45	cd03266	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	48	cd03257	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	55	cd03229	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	65	cd03228	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	33	cd03219	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	31	cd03236	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	44	cd03255	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	55	cd03230	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	33	COG4161	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	59	cd03263	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	31	cd03265	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	41	cd03216	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	34	cd03296	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	52	cd03264	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	32	cd03268	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	55	cd03259	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	31	cd03269	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	54	cd03301	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	40	COG1122	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	45	cd03234	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	33	COG4152	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	37	COG4133	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	39	COG1120	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	38	COG1121	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	62	cd03215	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	42	COG4778	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	60	COG1131	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	83	COG1119	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	38	COG4107	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	48	cd03225	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	88	cd00267	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	33	cd03226	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	33	cd03235	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	47	cd03214	105990541,NP_000341
24	6707663	Disease	p.Leu1970Phe	VAR_008476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008476	rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	48	cd03232	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	8	smart00382	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	37	COG4555	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	46	cd03266	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	49	cd03257	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	56	cd03229	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	66	cd03228	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	34	cd03219	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	32	cd03236	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	45	cd03255	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	56	cd03230	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	34	COG4161	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	60	cd03263	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	32	cd03265	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	42	cd03216	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	35	cd03296	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	53	cd03264	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	33	cd03268	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	56	cd03259	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	32	cd03269	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	55	cd03301	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	41	COG1122	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	46	cd03234	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	34	COG4152	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	38	COG4133	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	40	COG1120	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	39	COG1121	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	63	cd03215	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	43	COG4778	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	61	COG1131	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	84	COG1119	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	39	COG4107	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	49	cd03225	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	89	cd00267	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	34	cd03226	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	34	cd03235	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	48	cd03214	105990541,NP_000341
24	6707663	Disease	p.Leu1971Arg	VAR_012603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012603	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	49	cd03232	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	13	smart00382	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	COG4555	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03266	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	cd03257	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	60	cd03229	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	70	cd03228	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	cd03219	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	36	cd03236	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	cd03255	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	60	cd03230	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	COG4161	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	64	cd03263	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	36	cd03265	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	cd03216	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	39	cd03296	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	57	cd03264	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	37	cd03268	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	60	cd03259	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	36	cd03269	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	59	cd03301	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	COG1122	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	cd03234	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	COG4152	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	42	COG4133	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	COG1120	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	COG1121	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	67	cd03215	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	47	COG4778	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	65	COG1131	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	88	COG1119	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	COG4107	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	cd03225	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	93	cd00267	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	cd03226	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	cd03235	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	cd03214	105990541,NP_000341
24	6707663	Disease	p.Gly1975Arg	VAR_012604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012604	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	53	cd03232	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	16	smart00382	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	43	COG4555	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	cd03266	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	cd03257	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	cd03229	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	72	cd03228	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	cd03219	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	cd03236	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	51	cd03255	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	cd03230	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	COG4161	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	66	cd03263	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	cd03265	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	48	cd03216	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	41	cd03296	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	59	cd03264	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	39	cd03268	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	62	cd03259	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	38	cd03269	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	61	cd03301	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	50	COG1122	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	52	cd03234	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	COG4152	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	44	COG4133	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	46	COG1120	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	COG1121	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	69	cd03215	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	49	COG4778	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	67	COG1131	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	90	COG1119	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	45	COG4107	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	cd03225	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	95	cd00267	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	cd03226	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	40	cd03235	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	54	cd03214	105990541,NP_000341
24	6707663	Disease	p.Gly1977Ser	VAR_008477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008477	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	55	cd03232	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	104	smart00382	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	94	COG4555	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	103	cd03266	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	264	cd03257	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	133	cd03229	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	217	cd03228	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	105	cd03219	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	103	cd03236	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	114	cd03255	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	121	cd03230	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	98	COG4161	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	143	cd03263	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	88	cd03265	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	120	cd03216	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	90	cd03296	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	112	cd03264	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	92	cd03268	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	120	cd03259	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	92	cd03269	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	116	cd03301	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	432	COG1122	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	119	cd03234	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	87	COG4152	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	95	COG4133	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	141	COG1120	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	98	COG1121	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	225	cd03215	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	115	COG4778	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	137	COG1131	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	145	COG1119	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	117	COG4107	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	137	cd03225	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	236	cd00267	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	122	cd03226	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	100	cd03235	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	150	cd03214	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	106	cd03232	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	70	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	104	smart00382	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	94	COG4555	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	103	cd03266	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	264	cd03257	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	133	cd03229	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	217	cd03228	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	105	cd03219	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	103	cd03236	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	114	cd03255	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	121	cd03230	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	98	COG4161	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	cd03263	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	88	cd03265	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	120	cd03216	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	90	cd03296	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	cd03264	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92	cd03268	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	120	cd03259	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92	cd03269	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	116	cd03301	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	432	COG1122	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	119	cd03234	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	87	COG4152	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	95	COG4133	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	141	COG1120	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	98	COG1121	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	cd03215	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	COG4778	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	137	COG1131	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	145	COG1119	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	117	COG4107	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	137	cd03225	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	236	cd00267	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	cd03226	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	100	cd03235	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	150	cd03214	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	cd03232	105990541,NP_000341
24	6707663	Disease	p.Leu2027Phe	VAR_008478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008478	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	70	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	107	smart00382	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	97	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	106	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	267	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	136	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	220	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	108	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	106	cd03236	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	117	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	124	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	101	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	146	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	91	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	123	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	93	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	115	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	95	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	123	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	92_G	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	119	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	435	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	122	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	90	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	98	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	144	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	101	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	228	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	115_G	COG4778	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	140	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	150	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	122	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	140	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	239	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	125	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	103	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	153	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	109	cd03232	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	101	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	smart00382	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	97	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	267	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	136	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	220	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	108	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	cd03236	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	117	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	124	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	101	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	146	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	91	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	123	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	93	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	95	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	123	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	92_G	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	119	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	435	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	90	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	98	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	144	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	101	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	228	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115_G	COG4778	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	140	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	150	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	140	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	239	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	125	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	103	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	cd03232	105990541,NP_000341
24	6707663	Disease	p.Arg2030Gln	VAR_008480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008480	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	101	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	112	smart00382	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	102	COG4555	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	111	cd03266	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	274	cd03257	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	141	cd03229	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	cd03228	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	cd03219	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	111	cd03236	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	cd03255	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	129	cd03230	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	107	COG4161	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	151	cd03263	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	96	cd03265	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	128	cd03216	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	98	cd03296	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	120	cd03264	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	100	cd03268	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	128	cd03259	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	95	cd03269	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	124	cd03301	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	440	COG1122	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	127	cd03234	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	95	COG4152	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	103	COG4133	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	149	COG1120	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	COG1121	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	233	cd03215	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	119_G	COG4778	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	145	COG1131	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	155	COG1119	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	124_G	COG4107	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143_G	cd03225	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	244	cd00267	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	130	cd03226	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	114	cd03235	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	158	cd03214	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	114	cd03232	105990541,NP_000341
24	6707663	Disease	p.Leu2035Pro	VAR_012605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012605	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	115	smart00382	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	105	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	114	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	277	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	144	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	227_G	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	116	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	114	cd03236	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	125	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	132	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	110	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	154	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	99	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	131	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	101	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	123	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	103	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	131	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	97	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	127	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	443	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	130	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	98	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	106	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	159	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	113	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	236	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	119_G	COG4778	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	148	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	164	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	127	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143_G	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	247	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	134	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	117	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	170	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	117	cd03232	105990541,NP_000341
24	6707663	Disease	p.Arg2038Trp	VAR_008495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008495	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	227	smart00382	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	117	COG4555	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	126	cd03266	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	289	cd03257	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	156	cd03229	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	234	cd03228	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	155	cd03219	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	123_G	cd03236	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	146	cd03255	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	144	cd03230	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	COG4161	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	166	cd03263	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	111	cd03265	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	150	cd03216	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	117	cd03296	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	136	cd03264	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	120	cd03268	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	145	cd03259	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	109	cd03269	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	cd03301	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	457	COG1122	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	145	cd03234	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	110	COG4152	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	122	COG4133	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	COG1120	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	134	COG1121	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	248	cd03215	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	131	COG4778	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	COG1131	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	COG1119	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	139	COG4107	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153	cd03225	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1249	cd00267	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	140	cd03226	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	129	cd03235	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	182	cd03214	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	132	cd03232	105990541,NP_000341
24	6707663	Disease	p.Val2050Leu	VAR_008481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008481	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	237	smart00382	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	127	COG4555	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	136	cd03266	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	399	cd03257	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	174	cd03229	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	290	cd03228	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	165	cd03219	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	129	cd03236	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	156	cd03255	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	157	cd03230	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	132	COG4161	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	189	cd03263	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	121	cd03265	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	160	cd03216	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	127	cd03296	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	146	cd03264	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	126	cd03268	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	155	cd03259	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	119	cd03269	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	188	cd03301	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	467	COG1122	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	167	cd03234	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	120	COG4152	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	128	COG4133	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	186	COG1120	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	143	COG1121	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	288	cd03215	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	141	COG4778	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	178	COG1131	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	194	COG1119	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	146	COG4107	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	165	cd03225	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	1259	cd00267	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	146	cd03226	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	138	cd03235	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	192	cd03214	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	157	cd03232	105990541,NP_000341
24	6707663	Disease	p.Leu2060Arg	VAR_012607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012607	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	208	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	248	smart00382	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	138	COG4555	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	147	cd03266	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	410	cd03257	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	cd03229	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	301	cd03228	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03219	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	140	cd03236	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	170	cd03255	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	cd03230	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	COG4161	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	200	cd03263	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	132	cd03265	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	171	cd03216	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	138	cd03296	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	157	cd03264	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	137	cd03268	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	cd03259	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	130	cd03269	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	cd03301	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	481	COG1122	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	cd03234	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	131	COG4152	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	139	COG4133	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	COG1120	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	155	COG1121	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	300	cd03215	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153	COG4778	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	194	COG1131	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	COG1119	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153	COG4107	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	cd03225	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1270	cd00267	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	157	cd03226	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	149	cd03235	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	cd03214	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	cd03232	105990541,NP_000341
24	6707663	Disease	p.Tyr2071Phe	VAR_012608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012608	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	250	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	254	smart00382	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	144	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	416	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	191	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	311	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	183	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	146	cd03236	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	149	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	138	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	144	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	136	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	487	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	137	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	145	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	161	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	306	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	159	COG4778	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	200	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	159	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	182	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1280	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	155	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	cd03232	105990541,NP_000341
24	6707663	Disease	p.Arg2077Gly	VAR_012609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012609	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	256	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	254	smart00382	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	144	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	153	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	416	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	191	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	311	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	183	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	146	cd03236	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	149	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	138	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	144	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	143	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	136	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	487	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	137	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	145	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	161	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	306	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	159	COG4778	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	200	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	159	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	182	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1280	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	155	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	cd03232	105990541,NP_000341
24	6707663	Disease	p.Arg2077Trp	VAR_008482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008482	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	256	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	315	smart00382	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	COG4555	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	172	cd03266	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	435	cd03257	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	210	cd03229	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	332	cd03228	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	cd03219	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	166	cd03236	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	cd03255	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	cd03230	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	COG4161	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	cd03263	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	157	cd03265	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	cd03216	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	163	cd03296	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	182	cd03264	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	162	cd03268	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	194	cd03259	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	155	cd03269	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	224	cd03301	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	512	COG1122	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	cd03234	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	156	COG4152	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	164	COG4133	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	224	COG1120	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	180	COG1121	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	330	cd03215	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	COG4778	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	COG1131	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	231	COG1119	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	COG4107	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	cd03225	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1313	cd00267	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	182	cd03226	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	cd03235	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	239	cd03214	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	cd03232	105990541,NP_000341
24	6707663	Disease	p.Glu2096Lys	VAR_008483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008483	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	280	pfam00005	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	339	smart00382	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	173	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	182	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	445	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	220	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	343	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	212	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	176	cd03236	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	205	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	206	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	178	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	235	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	167	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	212	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	173	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	192	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	172	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	204	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	165	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	234	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	522	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	219	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	166	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	174	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	234	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	190	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	340	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	188	COG4778	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	235	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	241	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	188	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	211	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	1327	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	192	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	184	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	249	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Fundus flavimaculatus (FFM) [MIM:248200]	SWISS	208	cd03232	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	339	smart00382	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	173	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	182	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	445	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	220	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	343	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	176	cd03236	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	178	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	235	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	167	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	173	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	172	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	204	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	165	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	234	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	522	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	219	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	166	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	234	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	190	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	340	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188	COG4778	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	235	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	241	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	211	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1327	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	192	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	184	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	249	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg2106Cys	VAR_008484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008484	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	208	cd03232	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	345	smart00382	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	183	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	446	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	221	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	344	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	213	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03236	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	207	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	179	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	236	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	213	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	193	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	173	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	166	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	235	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	523	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	220	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	167	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	235	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	191	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	341	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	189	COG4778	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	236	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	242	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	189	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1328	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	193	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	250	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg2107Cys	VAR_012610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012610	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	cd03232	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	345	smart00382	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	183	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	446	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	221	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	344	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	213	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	177	cd03236	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	207	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	179	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	236	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	168	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	213	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	174	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	193	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	173	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	205	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	166	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	235	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	523	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	220	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	167	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	175	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	235	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	191	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	341	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	189	COG4778	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	236	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	242	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	189	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1328	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	193	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	185	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	250	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg2107His	VAR_008485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008485	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	cd03232	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	612	smart00382	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	COG4555	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	207	cd03266	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	469	cd03257	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	243	cd03229	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	373	cd03228	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	236	cd03219	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	cd03236	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	229	cd03255	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	230	cd03230	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	200	COG4161	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	281	cd03263	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	190	cd03265	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	235	cd03216	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	196	cd03296	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	214	cd03264	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	195	cd03268	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	228	cd03259	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	187	cd03269	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	257	cd03301	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	545	COG1122	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	308	cd03234	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	188	COG4152	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	196	COG4133	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	257	COG1120	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	213	COG1121	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	363	cd03215	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	210	COG4778	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	259	COG1131	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	265	COG1119	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	211	COG4107	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	236	cd03225	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1355	cd00267	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	214	cd03226	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	207	cd03235	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	272	cd03214	105990541,NP_000341
24	6707663	Disease	p.His2128Arg	VAR_008486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008486	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	230	cd03232	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	652	smart00382	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	COG4555	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	210	cd03266	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	472	cd03257	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	246	cd03229	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	376	cd03228	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	239	cd03219	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	202	cd03236	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	232	cd03255	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	233	cd03230	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	203	COG4161	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	284	cd03263	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	193	cd03265	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	238	cd03216	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	cd03296	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	217	cd03264	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	cd03268	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	231	cd03259	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	190	cd03269	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	260	cd03301	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	548	COG1122	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	312	cd03234	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	191	COG4152	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	COG4133	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	260	COG1120	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	216	COG1121	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	366	cd03215	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	213	COG4778	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	262	COG1131	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	268	COG1119	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	214	COG4107	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	239	cd03225	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1358	cd00267	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	217	cd03226	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	210	cd03235	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	275	cd03214	105990541,NP_000341
24	6707663	Disease	p.Glu2131Lys	VAR_008487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008487	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	235	cd03232	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	667	smart00382	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	218	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	485	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	254	cd03229	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	385	cd03228	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	248	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	210	cd03236	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	241	cd03255	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	244	cd03230	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	211	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	292	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	201	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	247	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	207	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	206	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	240	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	198	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	268	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	556	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	320	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	199	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	208	COG4133	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	269	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	224	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	374	cd03215	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	221	COG4778	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	279	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	276	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	222	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	248	cd03225	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	1375	cd00267	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	225	cd03226	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	218	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	283	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg2139Trp	VAR_008488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008488	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	242	cd03232	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	675	smart00382	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	213	COG4555	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	225	cd03266	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	492	cd03257	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	261	cd03229	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	398	cd03228	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	255	cd03219	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	219	cd03236	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	248	cd03255	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	251	cd03230	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	218	COG4161	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	300	cd03263	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	208	cd03265	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	254	cd03216	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	214	cd03296	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	232	cd03264	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	213	cd03268	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	249	cd03259	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	205	cd03269	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	275	cd03301	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	563	COG1122	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	328	cd03234	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	206	COG4152	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	215	COG4133	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	309	COG1120	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	231	COG1121	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	382	cd03215	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	228	COG4778	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	286	COG1131	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	283	COG1119	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	229	COG4107	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	262	cd03225	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	1412	cd00267	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	232	cd03226	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	225	cd03235	105990541,NP_000341
24	6707663	Disease	p.Gly2146Asp	VAR_012611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012611	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	321	cd03214	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	216	COG4555	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	228	cd03266	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	495	cd03257	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	258	cd03219	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	222	cd03236	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	221	COG4161	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	303	cd03263	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	211	cd03265	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	255	cd03216	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	217	cd03296	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	235	cd03264	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	216	cd03268	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	252	cd03259	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	208	cd03269	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	278	cd03301	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	652	COG1122	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	331	cd03234	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	COG4152	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	312	COG1120	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	234	COG1121	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	231	COG4778	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	289	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	286	COG1119	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	232	COG4107	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	228	cd03235	105990541,NP_000341
24	6707663	Disease	p.Arg2149Leu	VAR_012612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012612	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	324	cd03214	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	217	COG4555	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	229	cd03266	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	496	cd03257	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	259	cd03219	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	223	cd03236	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	222	COG4161	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	304	cd03263	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	cd03265	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	256	cd03216	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	218	cd03296	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	236	cd03264	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	217	cd03268	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	253	cd03259	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	cd03269	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	279	cd03301	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	653	COG1122	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	332	cd03234	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	210	COG4152	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	313	COG1120	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	238	COG1121	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	232	COG4778	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	290	COG1131	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	287	COG1119	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	233	COG4107	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	229	cd03235	105990541,NP_000341
24	6707663	Disease	p.Cys2150Arg	VAR_012613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012613	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	325	cd03214	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	217	COG4555	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	229	cd03266	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	496	cd03257	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	259	cd03219	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	223	cd03236	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	222	COG4161	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	304	cd03263	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	212	cd03265	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	256	cd03216	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	218	cd03296	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	236	cd03264	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	217	cd03268	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	253	cd03259	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	209	cd03269	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	279	cd03301	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	653	COG1122	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	332	cd03234	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	210	COG4152	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	313	COG1120	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	238	COG1121	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	232	COG4778	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	290	COG1131	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	287	COG1119	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	233	COG4107	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	229	cd03235	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Cone-rod dystrophy type 3 (CORD3) [MIM:604116]	SWISS	325	cd03214	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	217	COG4555	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	229	cd03266	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	496	cd03257	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	259	cd03219	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	223	cd03236	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	222	COG4161	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	304	cd03263	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	212	cd03265	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	256	cd03216	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	218	cd03296	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	236	cd03264	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	217	cd03268	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	253	cd03259	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	209	cd03269	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	279	cd03301	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	653	COG1122	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	332	cd03234	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	210	COG4152	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	313	COG1120	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	238	COG1121	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	232	COG4778	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	290	COG1131	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	287	COG1119	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	233	COG4107	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	229	cd03235	105990541,NP_000341
24	6707663	Disease	p.Cys2150Tyr	VAR_008489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008489	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	325	cd03214	105990541,NP_000341
24	6707663	Disease	p.Lys2160Arg	VAR_008490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008490	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	227	COG4555	105990541,NP_000341
24	6707663	Disease	p.Lys2160Arg	VAR_008490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008490	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	236	cd03236	105990541,NP_000341
24	6707663	Disease	p.Lys2160Arg	VAR_008490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008490	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	232	COG4161	105990541,NP_000341
24	6707663	Disease	p.Lys2160Arg	VAR_008490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008490	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	232	cd03296	105990541,NP_000341
24	6707663	Disease	p.Lys2160Arg	VAR_008490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008490	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	663	COG1122	105990541,NP_000341
24	6707663	Disease	p.Lys2160Arg	VAR_008490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008490	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	220	COG4152	105990541,NP_000341
24	6707663	Disease	p.Lys2160Arg	VAR_008490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008490	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	331	COG1120	105990541,NP_000341
24	6707663	Disease	p.Lys2160Arg	VAR_008490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008490	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	250	COG1121	105990541,NP_000341
24	6707663	Disease	p.Lys2160Arg	VAR_008490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008490	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	303	COG1131	105990541,NP_000341
24	6707663	Disease	p.Lys2160Arg	VAR_008490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008490	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	243	COG4107	105990541,NP_000341
24	6707663	Disease	p.Leu2229Pro	VAR_012615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012615	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	282	COG4152	105990541,NP_000341
24	6707663	Disease	p.Leu2229Pro	VAR_012615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012615	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	406	COG1131	105990541,NP_000341
24	6707663	Disease	p.Leu2241Val	VAR_012616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012616	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	294	COG4152	105990541,NP_000341
24	6707663	Disease	p.Leu2241Val	VAR_012616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012616	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	419	COG1131	105990541,NP_000341
24	6707663	Disease	p.Arg2263Leu	VAR_012617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012617	- Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	105990541,NP_000341
8647	262527527	Disease	p.Glu186Gly	VAR_030386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030386	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	327	COG1132	21536378,NP_003733
8647	262527527	Disease	p.Glu186Gly	VAR_030386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030386	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	112_G	COG4618	21536378,NP_003733
8647	262527527	Disease	p.Glu186Gly	VAR_030386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030386	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	116	COG4987	21536378,NP_003733
8647	262527527	Disease	p.Glu186Gly	VAR_030386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030386	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	88	COG4988	21536378,NP_003733
8647	262527527	Disease	p.Glu186Gly	VAR_030386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030386	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	16	COG5265	21536378,NP_003733
8647	262527527	Disease	p.Glu186Gly	VAR_030386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030386	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	279	COG2274	21536378,NP_003733
8647	262527527	Disease	p.Glu186Gly	VAR_030386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030386	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	96	COG4615	21536378,NP_003733
8647	262527527	Disease	p.Glu186Gly	VAR_030386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030386	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	149	pfam00664	21536378,NP_003733
8647	262527527	Disease	p.Gly238Val	VAR_030388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030388	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	474	COG1132	21536378,NP_003733
8647	262527527	Disease	p.Gly238Val	VAR_030388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030388	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	173_G	COG4618	21536378,NP_003733
8647	262527527	Disease	p.Gly238Val	VAR_030388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030388	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	168	COG4987	21536378,NP_003733
8647	262527527	Disease	p.Gly238Val	VAR_030388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030388	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	25	COG1123	21536378,NP_003733
8647	262527527	Disease	p.Gly238Val	VAR_030388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030388	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	140	COG4988	21536378,NP_003733
8647	262527527	Disease	p.Gly238Val	VAR_030388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030388	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	80	COG5265	21536378,NP_003733
8647	262527527	Disease	p.Gly238Val	VAR_030388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030388	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	330	COG2274	21536378,NP_003733
8647	262527527	Disease	p.Gly238Val	VAR_030388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030388	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	149	COG4615	21536378,NP_003733
8647	262527527	Disease	p.Gly238Val	VAR_030388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030388	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	218	pfam00664	21536378,NP_003733
8647	262527527	Disease	p.Val284Leu	VAR_013332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013332	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	644	COG1132	21536378,NP_003733
8647	262527527	Disease	p.Val284Leu	VAR_013332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013332	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	222	COG4618	21536378,NP_003733
8647	262527527	Disease	p.Val284Leu	VAR_013332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013332	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	215	COG4987	21536378,NP_003733
8647	262527527	Disease	p.Val284Leu	VAR_013332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013332	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	160	COG1123	21536378,NP_003733
8647	262527527	Disease	p.Val284Leu	VAR_013332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013332	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	186	COG4988	21536378,NP_003733
8647	262527527	Disease	p.Val284Leu	VAR_013332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013332	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	128	COG5265	21536378,NP_003733
8647	262527527	Disease	p.Val284Leu	VAR_013332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013332	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	376	COG2274	21536378,NP_003733
8647	262527527	Disease	p.Val284Leu	VAR_013332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013332	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	187	COG4615	21536378,NP_003733
8647	262527527	Disease	p.Val284Leu	VAR_013332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013332	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	279	pfam00664	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	VAR_010271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010271	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	657	COG1132	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	VAR_010271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010271	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	239	COG4618	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	VAR_010271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010271	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	228	COG4987	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	VAR_010271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010271	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	173	COG1123	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	VAR_010271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010271	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	199	COG4988	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	VAR_010271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010271	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	141	COG5265	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	VAR_010271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010271	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	389	COG2274	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	VAR_010271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010271	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	198	COG4615	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	VAR_010271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010271	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	292	pfam00664	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	VAR_010271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010271	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	657	COG1132	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	VAR_010271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010271	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	239	COG4618	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	VAR_010271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010271	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	228	COG4987	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	VAR_010271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010271	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	173	COG1123	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	VAR_010271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010271	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	199	COG4988	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	VAR_010271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010271	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	141	COG5265	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	VAR_010271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010271	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	389	COG2274	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	VAR_010271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010271	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	198	COG4615	21536378,NP_003733
8647	262527527	Disease	p.Glu297Gly	VAR_010271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010271	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	292	pfam00664	21536378,NP_003733
8647	262527527	Disease	p.Cys336Ser	VAR_030390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030390	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	770	COG1132	21536378,NP_003733
8647	262527527	Disease	p.Cys336Ser	VAR_030390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030390	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	278	COG4618	21536378,NP_003733
8647	262527527	Disease	p.Cys336Ser	VAR_030390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030390	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	267	COG4987	21536378,NP_003733
8647	262527527	Disease	p.Cys336Ser	VAR_030390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030390	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	261	COG1123	21536378,NP_003733
8647	262527527	Disease	p.Cys336Ser	VAR_030390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030390	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	245	COG4988	21536378,NP_003733
8647	262527527	Disease	p.Cys336Ser	VAR_030390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030390	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	179	COG5265	21536378,NP_003733
8647	262527527	Disease	p.Cys336Ser	VAR_030390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030390	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	428	COG2274	21536378,NP_003733
8647	262527527	Disease	p.Cys336Ser	VAR_030390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030390	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	247	COG4615	21536378,NP_003733
8647	262527527	Disease	p.Cys336Ser	VAR_030390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030390	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	334	pfam00664	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	25_G	COG4674	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	6	cd03222	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	22	COG4181	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	21	COG4778	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	17	COG1121	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	22	COG4175	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	1074	COG1132	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	378	COG4618	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	366	COG4987	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03244	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	16	COG1120	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	17	COG4608	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	12_G	COG4152	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	19	COG1126	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	15	COG1118	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	15	cd03245	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	15	cd03289	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	17	COG4525	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13_G	COG4136	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03254	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	15	COG4133	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	8_G	cd03297	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	65	COG1119	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	3	COG0411	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	3	cd03238	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	12	cd03226	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	12	cd00267	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	12	cd03225	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	14	cd03235	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	12	cd03214	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	16_G	COG4598	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	20	COG4107	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	27_G	COG1129	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	24	cd03248	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	20	COG1137	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	486	COG1123	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	31_G	COG1127	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	26	COG3842	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	47	cd03291	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03260	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	10_G	cd03224	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	16	COG4619	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03298	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03220	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	31	cd03267	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03264	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03259	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03301	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03247	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	10_G	cd03265	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	12_G	cd03216	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03251	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03294	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	15	COG4555	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03256	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03295	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03263	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	10	cd03231	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03261	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	10_G	cd03219	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03218	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	14	COG4604	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	15_G	COG3845	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03253	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	11	cd03252	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03249	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03221	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03250	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03228	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	34	cd03229	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03290	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	14	COG2884	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03293	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03300	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	11_G	cd03292	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03230	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03223	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03255	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03246	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	cd03262	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	346	COG4988	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	21	COG1117	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	276	COG5265	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	22	COG1136	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	14	cd03257	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	14	COG0444	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	15	COG4161	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	11_G	COG3840	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	16	COG1125	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	21	COG4172	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	14	cd03258	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	38	COG1131	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	14	COG4559	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	14_G	cd03296	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	17	COG1135	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	552	COG2274	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	342_G	COG4615	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13_G	COG0410	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	17	cd03369	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	16	COG1122	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	16	COG3638	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	16	COG1116	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	16	COG3839	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	16	cd03213	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	16	cd03233	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	17	cd03232	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	15	COG0488	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	16	COG1124	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	31	COG4586	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	5	cd03271	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	13	COG0396	21536378,NP_003733
8647	262527527	Disease	p.Arg432Thr	VAR_030391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030391	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	90	cd03288	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	52	COG4674	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	39	cd03222	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	51	COG4181	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	50	COG4778	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	46	COG1121	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	73	COG4175	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	1219	COG1132	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	410	COG4618	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	394	COG4987	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	45	cd03244	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	47	COG1120	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	64	COG4608	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	41	COG4152	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	51	COG1126	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	57	COG1118	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	45	cd03245	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	43	cd03289	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	50	COG4525	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	42	COG4136	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	42	cd03254	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	45	COG4133	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	49	cd03297	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	91	COG1119	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	44	COG0411	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	48	cd03238	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	17	smart00382	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	41	cd03226	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	96	cd00267	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	56	cd03225	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	41	cd03235	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	55	cd03214	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	45	COG4598	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	46	COG4107	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	56	COG1129	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	53	cd03248	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	46	COG1137	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	515	COG1123	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	60	COG1127	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	56	COG3842	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	76	cd03291	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	43	cd03260	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	41	cd03224	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	42	COG4619	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	37	cd03298	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	81	cd03220	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	60	cd03267	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	60	cd03264	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	63	cd03259	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	62	cd03301	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	41	cd03247	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	39	cd03265	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	49	cd03216	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	44	cd03251	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	68	cd03294	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	44	COG4555	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	42	cd03256	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	41	cd03295	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	67	cd03263	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	39	cd03231	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	41	cd03261	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	41	cd03219	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	39	cd03218	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	40	COG4604	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	45	COG3845	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	60	cd03253	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	42	cd03252	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	42	cd03249	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	45	cd03221	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	111	cd03250	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	73	cd03228	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	63	cd03229	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	41	cd03290	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	42	COG2884	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	46	cd03293	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	43	cd03300	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	41	cd03292	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	63	cd03230	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	55	cd03223	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	52	cd03255	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	44	cd03246	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	41	cd03262	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	374	COG4988	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	37	COG4148	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	50	COG1117	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	305	COG5265	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	56	COG1136	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	56	cd03257	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	49	COG0444	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	41	COG4161	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	38	COG3840	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	45	COG1125	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	50	COG4172	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	47	cd03258	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	68	COG1131	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	40	COG4559	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	42	cd03296	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	47	COG1135	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	581	COG2274	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	376	COG4615	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	43	COG0410	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	47	cd03369	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	51	COG1122	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	45	COG3638	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	48	COG1116	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	65	COG3839	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	55	cd03213	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	59	cd03233	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	56	cd03232	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	44	COG0488	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	53	COG1124	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	76	COG4586	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	34	cd03271	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	51	COG0396	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	118	cd03288	21536378,NP_003733
8647	262527527	Disease	p.Lys461Glu	VAR_013334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013334	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	38	cd03299	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	77	COG4674	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	62	cd03222	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	72	COG4181	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	71	COG4778	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	67	COG1121	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	94	COG4175	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	1250	COG1132	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	431	COG4618	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	415	COG4987	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	69	cd03244	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	69	COG1120	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	87	COG4608	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	62	COG4152	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	72	COG1126	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	78	COG1118	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	66	cd03245	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	63	cd03289	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	71	COG4525	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	66	COG4136	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	63	cd03254	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	66	COG4133	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	70	cd03297	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	113	COG1119	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	65	COG0411	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	100	cd03238	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	76	smart00382	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	63	cd03226	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	156	cd00267	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	83	cd03225	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	62	cd03235	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	79	cd03214	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	27	pfam00005	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	66	COG4598	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	67	COG4107	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	82	COG1129	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	74	cd03248	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	67	COG1137	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	537	COG1123	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	81	COG1127	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	78	COG3842	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	97	cd03291	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	70	cd03260	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	67	cd03224	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	63	COG4619	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	58	cd03298	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	102	cd03220	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	81	cd03267	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	82	cd03264	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	85	cd03259	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	83	cd03301	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	62	cd03247	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	60	cd03265	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	75	cd03216	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	65	cd03251	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	89	cd03294	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	65	COG4555	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	63	cd03256	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	62	cd03295	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	105	cd03263	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	60	cd03231	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	62	cd03261	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	62	cd03219	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	61	cd03218	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	61	COG4604	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	66	COG3845	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	81	cd03253	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	63	cd03252	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	92	cd03249	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	70	cd03221	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	136	cd03250	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	112	cd03228	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	89	cd03229	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	62	cd03290	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	63	COG2884	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	67	cd03293	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	64	cd03300	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	62	cd03292	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	84	cd03230	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	83	cd03223	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	76	cd03255	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	65	cd03246	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	62	cd03262	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	396	COG4988	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	58	COG4148	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	77	COG1117	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	326	COG5265	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	78	COG1136	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	91	cd03257	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	76	COG0444	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	62	COG4161	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	59	COG3840	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	66	COG1125	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	76	COG4172	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	68	cd03258	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	92	COG1131	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	61	COG4559	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	63	cd03296	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	68	COG1135	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	602	COG2274	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	397	COG4615	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	67	COG0410	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	68	cd03369	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	234	COG1122	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	71	COG3638	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	74	COG1116	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	86	COG3839	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	81	cd03213	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	84	cd03233	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	79	cd03232	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	72	COG0488	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	75	COG1124	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	97	COG4586	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	65	cd03271	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	74	COG0396	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	139	cd03288	21536378,NP_003733
8647	262527527	Disease	p.Asp482Gly	VAR_013335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013335	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	59	cd03299	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	171	COG4674	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	151	cd03222	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	161	COG4181	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	164	COG4778	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	166	COG1121	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	186	COG4175	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	1396	COG1132	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	519	COG4618	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	504	COG4987	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	196	cd03244	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	210	COG1120	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	756	COG4608	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	142	COG4152	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	171	COG1126	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	173	COG1118	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	154	cd03245	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	167	cd03289	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	151	COG4525	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	148	COG4136	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	153	cd03254	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	150	COG4133	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	161	cd03297	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	217	COG1119	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	215	COG0411	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	534	cd03238	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	260	smart00382	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	168	cd03226	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	1285	cd00267	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	187	cd03225	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	160	cd03235	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	217	cd03214	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	263	pfam00005	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	165	COG4598	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	164	COG4107	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	197	COG1129	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	176	cd03248	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	158	COG1137	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	690	COG1123	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	172	COG1127	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	382	COG3842	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	171	cd03291	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	178	cd03260	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	167	cd03224	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	149	COG4619	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	140	cd03298	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	179	cd03220	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	168	cd03267	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	168	cd03264	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	179	cd03259	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	210	cd03301	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	156	cd03247	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	143	cd03265	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	182	cd03216	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	170	cd03251	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	178	cd03294	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	149	COG4555	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	164	cd03256	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	148	cd03295	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	211	cd03263	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	140	cd03231	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	153	cd03261	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	188	cd03219	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	153	cd03218	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	147	COG4604	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	164	COG3845	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	170	cd03253	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	151	cd03252	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	278	cd03249	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	262	cd03221	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	263	cd03250	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	316	cd03228	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	196	cd03229	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	163	cd03290	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	150	COG2884	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	188	cd03293	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	146	cd03300	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	149	cd03292	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	179	cd03230	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	237	cd03223	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	181	cd03255	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	153	cd03246	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	163	cd03262	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	485	COG4988	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	144	COG4148	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	185	COG1117	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	414	COG5265	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	187	COG1136	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	421	cd03257	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	474	COG0444	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	154	COG4161	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	141	COG3840	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	154	COG1125	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	170	COG4172	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	163	cd03258	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	205	COG1131	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	147	COG4559	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	149	cd03296	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	179	COG1135	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	691	COG2274	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	475	COG4615	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	171	COG0410	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	188	cd03369	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	492	COG1122	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	168	COG3638	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	166	COG1116	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	427	COG3839	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	235	cd03213	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	206	cd03233	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	183	cd03232	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	212	COG0488	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	261	COG1124	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	191	COG4586	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	242	cd03271	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	221	COG0396	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	226	cd03288	21536378,NP_003733
8647	262527527	Disease	p.Ala570Thr	VAR_030392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030392	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	141	cd03299	21536378,NP_003733
8647	262527527	Disease	p.Thr923Pro	VAR_030394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030394	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	601	COG1132	21536378,NP_003733
8647	262527527	Disease	p.Thr923Pro	VAR_030394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030394	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	356	COG2274	21536378,NP_003733
8647	262527527	Disease	p.Thr923Pro	VAR_030394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030394	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	108	COG5265	21536378,NP_003733
8647	262527527	Disease	p.Thr923Pro	VAR_030394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030394	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	196_G	COG4987	21536378,NP_003733
8647	262527527	Disease	p.Thr923Pro	VAR_030394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030394	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	245	pfam00664	21536378,NP_003733
8647	262527527	Disease	p.Thr923Pro	VAR_030394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030394	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	161	COG4988	21536378,NP_003733
8647	262527527	Disease	p.Thr923Pro	VAR_030394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030394	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	406	COG4178	21536378,NP_003733
8647	262527527	Disease	p.Ala926Pro	VAR_030395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030395	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	604	COG1132	21536378,NP_003733
8647	262527527	Disease	p.Ala926Pro	VAR_030395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030395	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	359	COG2274	21536378,NP_003733
8647	262527527	Disease	p.Ala926Pro	VAR_030395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030395	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	111	COG5265	21536378,NP_003733
8647	262527527	Disease	p.Ala926Pro	VAR_030395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030395	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	198	COG4987	21536378,NP_003733
8647	262527527	Disease	p.Ala926Pro	VAR_030395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030395	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	248	pfam00664	21536378,NP_003733
8647	262527527	Disease	p.Ala926Pro	VAR_030395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030395	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	164	COG4988	21536378,NP_003733
8647	262527527	Disease	p.Ala926Pro	VAR_030395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030395	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	409	COG4178	21536378,NP_003733
8647	262527527	Disease	p.Gly982Arg	VAR_013336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013336	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	738	COG1132	21536378,NP_003733
8647	262527527	Disease	p.Gly982Arg	VAR_013336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013336	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	415	COG2274	21536378,NP_003733
8647	262527527	Disease	p.Gly982Arg	VAR_013336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013336	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	167	COG5265	21536378,NP_003733
8647	262527527	Disease	p.Gly982Arg	VAR_013336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013336	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	254	COG4987	21536378,NP_003733
8647	262527527	Disease	p.Gly982Arg	VAR_013336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013336	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	320	pfam00664	21536378,NP_003733
8647	262527527	Disease	p.Gly982Arg	VAR_013336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013336	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	222	COG4988	21536378,NP_003733
8647	262527527	Disease	p.Gly982Arg	VAR_013336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013336	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	474	COG4178	21536378,NP_003733
8647	262527527	Disease	p.Gly1004Asp	VAR_013337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013337	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	779	COG1132	21536378,NP_003733
8647	262527527	Disease	p.Gly1004Asp	VAR_013337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013337	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	437	COG2274	21536378,NP_003733
8647	262527527	Disease	p.Gly1004Asp	VAR_013337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013337	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	189	COG5265	21536378,NP_003733
8647	262527527	Disease	p.Gly1004Asp	VAR_013337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013337	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	276	COG4987	21536378,NP_003733
8647	262527527	Disease	p.Gly1004Asp	VAR_013337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013337	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	344	pfam00664	21536378,NP_003733
8647	262527527	Disease	p.Gly1004Asp	VAR_013337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013337	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	18	cd03288	21536378,NP_003733
8647	262527527	Disease	p.Gly1004Asp	VAR_013337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013337	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	238	COG4988	21536378,NP_003733
8647	262527527	Disease	p.Gly1004Asp	VAR_013337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013337	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	498	COG4178	21536378,NP_003733
8647	262527527	Disease	p.Arg1050Cys	VAR_030396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030396	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	923	COG1132	21536378,NP_003733
8647	262527527	Disease	p.Arg1050Cys	VAR_030396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030396	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	489	COG2274	21536378,NP_003733
8647	262527527	Disease	p.Arg1050Cys	VAR_030396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030396	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	235	COG5265	21536378,NP_003733
8647	262527527	Disease	p.Arg1050Cys	VAR_030396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030396	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	325	COG4987	21536378,NP_003733
8647	262527527	Disease	p.Arg1050Cys	VAR_030396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030396	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	8	cd03291	21536378,NP_003733
8647	262527527	Disease	p.Arg1050Cys	VAR_030396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030396	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	58	cd03288	21536378,NP_003733
8647	262527527	Disease	p.Arg1050Cys	VAR_030396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030396	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	301	COG4988	21536378,NP_003733
8647	262527527	Disease	p.Arg1050Cys	VAR_030396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030396	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	553	COG4178	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	48	cd03269	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	55	COG4107	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	50	cd03235	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	64	cd03214	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	65	cd03225	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	105	cd00267	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	50	cd03226	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	77	COG1131	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	9	pfam00005	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	51	COG4619	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	58	cd03297	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	48	cd03236	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	27	smart00382	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	1230	COG1132	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	60	COG1122	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	62	COG1124	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	65	cd03213	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	51	cd03252	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	69	cd03253	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	51	cd03249	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	76	cd03263	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	53	cd03251	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	54	COG1101	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	50	cd03261	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	55	cd03293	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	53	COG4555	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	53	cd03246	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	72	cd03230	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	61	cd03255	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	64	cd03223	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	53	cd03262	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	46	cd03298	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	72	cd03259	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	50	cd03247	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	71	cd03301	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	62	cd03266	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	50	cd03292	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	120	cd03250	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	50	cd03290	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	82	cd03228	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	72	cd03229	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	52	cd03260	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	590	COG2274	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	314	COG5265	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	62	cd03248	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	54	COG4598	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	403	COG4987	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	85	cd03291	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	92	COG1134	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	127	cd03288	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	383	COG4988	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	56	cd03369	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	59	COG1117	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	62	cd03234	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	52	cd03217	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	79	cd03215	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	686	COG4178	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	44	COG4138	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	56	COG1120	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	52	cd03289	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	51	cd03254	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	54	cd03244	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	54	cd03245	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	47	COG3840	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	50	COG4161	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	65	COG1136	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	56	cd03258	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	51	COG2884	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	61	COG4167	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	51	cd03296	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	65	cd03257	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	49	cd03268	21536378,NP_003733
8647	262527527	Disease	p.Arg1128His	VAR_030397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030397	- Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]	SWISS	58	cd03216	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	70	cd03269	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	89	COG4107	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	74	cd03235	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	134	cd03214	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	111	cd03225	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	220	cd00267	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	98	cd03226	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	106	COG1131	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	52	pfam00005	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	76	COG4619	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	87	cd03297	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	76	cd03236	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	89	smart00382	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	1263	COG1132	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	414	COG1122	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	96	COG1124	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	95	cd03213	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	76	cd03252	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	94	cd03253	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	152	cd03249	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	126	cd03263	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	78	cd03251	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	79	COG1101	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	78	cd03261	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	103	cd03293	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	77	COG4555	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	78	cd03246	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	100	cd03230	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	98	cd03255	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	119	cd03223	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	88	cd03262	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	69	cd03298	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	102	cd03259	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	75	cd03247	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	100	cd03301	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	86	cd03266	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	78	cd03292	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	158	cd03250	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	89	cd03290	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	194	cd03228	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	115	cd03229	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	90	cd03260	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	615	COG2274	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	339	COG5265	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	87	cd03248	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	92	COG4598	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	428	COG4987	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	99_G	cd03291	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	112	COG1134	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	152	cd03288	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	409	COG4988	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	81	cd03369	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	96	COG1117	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	103	cd03234	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	76	cd03217	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	199	cd03215	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	718_G	COG4178	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	71	COG4138	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	124	COG1120	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	76	cd03289	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	76	cd03254	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	88	cd03244	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	79	cd03245	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	65	COG3840	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	82	COG4161	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	103	COG1136	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	90	cd03258	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	79	COG2884	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	86	COG4167	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	74	cd03296	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	246	cd03257	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	76	cd03268	21536378,NP_003733
8647	262527527	Disease	p.Arg1153Cys	VAR_013338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013338	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	97	cd03216	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	180	cd03269	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	199	COG4107	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	200	cd03235	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	265	cd03214	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	229	cd03225	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	1348	cd00267	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	207	cd03226	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	252	COG1131	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	190	COG4619	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	201	cd03297	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	192	cd03236	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	605	smart00382	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	1441	COG1132	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	536	COG1122	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	299	COG1124	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	297	cd03213	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	189	cd03252	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	215	cd03253	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	320	cd03249	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	273	cd03263	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	208	cd03251	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	193_G	COG1101	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	209	cd03261	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	226	cd03293	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	188	COG4555	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	192	cd03246	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	223	cd03230	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	222	cd03255	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	332	cd03223	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	203	cd03262	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	180	cd03298	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	218	cd03259	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	194	cd03247	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	250	cd03301	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	200	cd03266	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	187	cd03292	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	307	cd03250	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	204	cd03290	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	366	cd03228	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	236	cd03229	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	221	cd03260	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	730	COG2274	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	454	COG5265	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	261	cd03248	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	204	COG4598	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	545	COG4987	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	210	cd03291	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	216	COG1134	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	264	cd03288	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	525	COG4988	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	226	cd03369	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	224	COG1117	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	301	cd03234	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	217	cd03217	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	356	cd03215	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	867	COG4178	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	189	COG4138	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	250	COG1120	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	205	cd03289	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	191	cd03254	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	237	cd03244	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	193	cd03245	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	181	COG3840	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	193	COG4161	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	228	COG1136	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	201	cd03258	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	189	COG2884	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	201	COG4167	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	189	cd03296	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	462	cd03257	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	188	cd03268	21536378,NP_003733
8647	262527527	Disease	p.Arg1268Gln	VAR_013339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013339	- Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]	SWISS	228	cd03216	21536378,NP_003733
5244	126302568	Disease	p.Trp138Arg	VAR_043080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043080	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	249	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Trp138Arg	VAR_043080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043080	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	124	pfam00664	9961250,NP_061337
5244	126302568	Disease	p.Trp138Arg	VAR_043080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043080	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	72	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Trp138Arg	VAR_043080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043080	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	6	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Trp138Arg	VAR_043080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043080	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	107	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Trp138Arg	VAR_043080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043080	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	299	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Trp138Arg	VAR_043080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043080	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	257	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Trp138Arg	VAR_043080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043080	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	96	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Trp138Arg	VAR_043080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043080	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	62	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Arg150Lys	VAR_043081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043081	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	268	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Arg150Lys	VAR_043081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043081	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	136	pfam00664	9961250,NP_061337
5244	126302568	Disease	p.Arg150Lys	VAR_043081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043081	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	85	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Arg150Lys	VAR_043081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043081	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	18	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Arg150Lys	VAR_043081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043081	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	120	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Arg150Lys	VAR_043081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043081	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	316	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Arg150Lys	VAR_043081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043081	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	269	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Arg150Lys	VAR_043081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043081	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	105	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Arg150Lys	VAR_043081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043081	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	77	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Phe165Ile	VAR_043082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043082	- Cholelithiasis [MIM:600803]	SWISS	283	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Phe165Ile	VAR_043082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043082	- Cholelithiasis [MIM:600803]	SWISS	155	pfam00664	9961250,NP_061337
5244	126302568	Disease	p.Phe165Ile	VAR_043082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043082	- Cholelithiasis [MIM:600803]	SWISS	100	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Phe165Ile	VAR_043082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043082	- Cholelithiasis [MIM:600803]	SWISS	32	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Phe165Ile	VAR_043082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043082	- Cholelithiasis [MIM:600803]	SWISS	143	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Phe165Ile	VAR_043082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043082	- Cholelithiasis [MIM:600803]	SWISS	344	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Phe165Ile	VAR_043082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043082	- Cholelithiasis [MIM:600803]	SWISS	289	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Phe165Ile	VAR_043082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043082	- Cholelithiasis [MIM:600803]	SWISS	120	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Phe165Ile	VAR_043082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043082	- Cholelithiasis [MIM:600803]	SWISS	92	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Met301Thr	VAR_043083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043083	- Cholelithiasis [MIM:600803]	SWISS	418	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Met301Thr	VAR_043083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043083	- Cholelithiasis [MIM:600803]	SWISS	58	COG4172	9961250,NP_061337
5244	126302568	Disease	p.Met301Thr	VAR_043083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043083	- Cholelithiasis [MIM:600803]	SWISS	323	pfam00664	9961250,NP_061337
5244	126302568	Disease	p.Met301Thr	VAR_043083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043083	- Cholelithiasis [MIM:600803]	SWISS	239	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Met301Thr	VAR_043083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043083	- Cholelithiasis [MIM:600803]	SWISS	304	COG1123	9961250,NP_061337
5244	126302568	Disease	p.Met301Thr	VAR_043083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043083	- Cholelithiasis [MIM:600803]	SWISS	170	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Met301Thr	VAR_043083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043083	- Cholelithiasis [MIM:600803]	SWISS	272	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Met301Thr	VAR_043083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043083	- Cholelithiasis [MIM:600803]	SWISS	741	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Met301Thr	VAR_043083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043083	- Cholelithiasis [MIM:600803]	SWISS	482	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Met301Thr	VAR_043083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043083	- Cholelithiasis [MIM:600803]	SWISS	257	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Met301Thr	VAR_043083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043083	- Cholelithiasis [MIM:600803]	SWISS	221	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Cholelithiasis [MIM:600803]	SWISS	437	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Cholelithiasis [MIM:600803]	SWISS	78	COG4172	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Cholelithiasis [MIM:600803]	SWISS	344	pfam00664	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Cholelithiasis [MIM:600803]	SWISS	11	cd03288	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Cholelithiasis [MIM:600803]	SWISS	255_G	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Cholelithiasis [MIM:600803]	SWISS	338	COG1123	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Cholelithiasis [MIM:600803]	SWISS	189	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Cholelithiasis [MIM:600803]	SWISS	287	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Cholelithiasis [MIM:600803]	SWISS	779	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Cholelithiasis [MIM:600803]	SWISS	500	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Cholelithiasis [MIM:600803]	SWISS	277	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Cholelithiasis [MIM:600803]	SWISS	248	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	437	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	78	COG4172	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	344	pfam00664	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	11	cd03288	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	255_G	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	338	COG1123	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	189	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	287	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	779	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	500	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	277	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Ser320Phe	VAR_023502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023502	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	248	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Ser346Ile	VAR_043084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043084	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	467	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Ser346Ile	VAR_043084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043084	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	132	COG4172	9961250,NP_061337
5244	126302568	Disease	p.Ser346Ile	VAR_043084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043084	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	375	pfam00664	9961250,NP_061337
5244	126302568	Disease	p.Ser346Ile	VAR_043084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043084	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	32	cd03288	9961250,NP_061337
5244	126302568	Disease	p.Ser346Ile	VAR_043084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043084	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	283	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Ser346Ile	VAR_043084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043084	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	370	COG1123	9961250,NP_061337
5244	126302568	Disease	p.Ser346Ile	VAR_043084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043084	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	220	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Ser346Ile	VAR_043084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043084	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	309_G	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Ser346Ile	VAR_043084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043084	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	864	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Ser346Ile	VAR_043084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043084	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	535	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Ser346Ile	VAR_043084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043084	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	298	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Ser346Ile	VAR_043084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043084	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	284	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	6	COG1121	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	5	cd03233	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	5	cd03213	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	5	cd03234	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	5	COG1122	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	5	cd03232	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	5	COG1124	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	8	cd03369	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	5	COG0396	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	5	COG1116	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	5	COG3638	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	5	COG3839	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	5	COG0488	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	541	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	10	COG4181	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	7	COG3842	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	21	COG1127	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	10	COG1129	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	284	COG4172	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	79	cd03288	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	334	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	4	cd03245	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	4	COG1120	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	4	cd03254	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	4	cd03244	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	4	COG1118	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	6	COG4525	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	4	COG1126	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	4	COG4133	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	4	COG4152	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	4	COG4136	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	4	cd03289	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	9	COG1117	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	9	COG1137	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	13	cd03248	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	457	COG1123	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03268	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03247	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03220	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03259	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03238	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03269	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03298	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03301	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	3	cd03266	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03264	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03224	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03228	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03229	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03290	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03250	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03221	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03293	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03222	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	3	COG4604	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03260	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03300	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03251	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03294	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	3	COG4555	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03261	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	5	COG4138	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03253	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03252	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03249	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03263	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	5	COG4619	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03267	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03219	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03218	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03255	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03246	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03262	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03230	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03223	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	6	cd03215	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03292	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03217	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03256	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03216	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	cd03295	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	36	cd03291	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	9	COG4107	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	8	COG4598	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	27	COG4586	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	267	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	362	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	1063	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	6	COG4167	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	7	COG0411	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	6	COG3845	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	6	COG1131	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	6	COG4175	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	37	COG1134	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	604	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	355	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	54	COG1119	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	6	COG4608	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	3	COG1136	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	3	cd03236	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	3	cd03257	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	3	COG3840	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	4	COG4161	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	5	COG0410	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	4	cd03296	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	3	cd03258	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	3	COG4559	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	3	COG0444	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	3	COG1125	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	3	COG1135	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	3	COG2884	9961250,NP_061337
5244	126302568	Disease	p.Glu395Gly	VAR_043086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043086	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	335	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	35	COG1121	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	48	cd03233	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	44	cd03213	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	42	cd03234	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	37	COG1122	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	45	cd03232	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	42	COG1124	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	36	cd03369	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	40	COG0396	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	37	COG1116	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	34	COG3638	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	54	COG3839	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	33	COG0488	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	570	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	40	COG4181	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	45	COG3842	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	49	COG1127	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	45	COG1129	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	28	cd03265	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	323	COG4172	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	27	cd03237	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	107	cd03288	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	4	smart00382	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	365	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	34	cd03245	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	36	COG1120	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	cd03254	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	34	cd03244	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	46	COG1118	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	39	COG4525	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	37	COG1126	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	34	COG4133	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	30	COG4152	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	COG4136	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	32	cd03289	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	44	cd03214	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	30	cd03235	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	85	cd00267	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	45	cd03225	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	30	cd03226	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	39	COG1117	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	35	COG1137	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	42	cd03248	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	504	COG1123	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	29	cd03268	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	30	cd03247	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	70	cd03220	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	52	cd03259	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	37	cd03238	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	28	cd03269	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	26	cd03298	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	51	cd03301	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	42	cd03266	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	50	cd03264	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	30	cd03224	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	62	cd03228	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	52	cd03229	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	30	cd03290	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	100	cd03250	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	34	cd03221	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	35	cd03293	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	28	cd03222	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	29	COG4604	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	32	cd03260	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	32	cd03300	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	33	cd03251	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	42	cd03294	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	33	COG4555	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	30	cd03261	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	27	COG4138	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	49	cd03253	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	cd03252	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	cd03249	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	56	cd03263	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	COG4619	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	49	cd03267	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	30	cd03219	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	28	cd03218	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	41	cd03255	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	33	cd03246	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	30	cd03262	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	52	cd03230	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	44	cd03223	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	59	cd03215	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	30	cd03292	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	30	cd03217	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	cd03256	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	38	cd03216	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	30	cd03295	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	65	cd03291	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	35	COG4107	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	34	COG4598	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	65	COG4586	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	294	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	399	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	1201	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	41	COG4167	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	33	COG0411	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	34	COG3845	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	57	COG1131	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	62	COG4175	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	72	COG1134	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	27	cd03299	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	38	cd03297	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	666	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	22	COG4148	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	383	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	80	COG1119	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	53	COG4608	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	45	COG1136	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	28	cd03236	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	45	cd03257	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	27	COG3840	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	30	COG4161	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	32	COG0410	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	cd03296	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	36	cd03258	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	29	COG4559	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	38	COG0444	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	34	COG1125	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	36	COG1135	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	COG2884	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	363	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	23	cd03271	9961250,NP_061337
5244	126302568	Disease	p.Thr424Ala	VAR_043087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043087	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	28	cd03231	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	36	COG1121	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	49	cd03233	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	45	cd03213	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	43	cd03234	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	38	COG1122	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	46	cd03232	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	43	COG1124	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	37	cd03369	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	41	COG0396	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	38	COG1116	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	35	COG3638	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	55	COG3839	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	34	COG0488	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	571	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	41	COG4181	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	46	COG3842	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	50	COG1127	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	46	COG1129	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	29	cd03265	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	324	COG4172	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	28	cd03237	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	108	cd03288	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	5	smart00382	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	366	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	35	cd03245	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	37	COG1120	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	32	cd03254	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	35	cd03244	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	47	COG1118	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	40	COG4525	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	38	COG1126	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	35	COG4133	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	COG4152	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	32	COG4136	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	33	cd03289	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	45	cd03214	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	cd03235	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	86	cd00267	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	46	cd03225	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	cd03226	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	40	COG1117	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	36	COG1137	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	43	cd03248	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	505	COG1123	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	30	cd03268	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	cd03247	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	71	cd03220	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	53	cd03259	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	38	cd03238	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	29	cd03269	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	27	cd03298	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	52	cd03301	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	43	cd03266	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	50_G	cd03264	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	cd03224	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	63	cd03228	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	53	cd03229	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	cd03290	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	101	cd03250	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	35	cd03221	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	36	cd03293	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	29	cd03222	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	30	COG4604	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	33	cd03260	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	33	cd03300	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	34	cd03251	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	43	cd03294	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	34	COG4555	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	cd03261	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	28	COG4138	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	50	cd03253	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	32	cd03252	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	32	cd03249	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	57	cd03263	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	32	COG4619	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	50	cd03267	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	cd03219	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	29	cd03218	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	42	cd03255	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	34	cd03246	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	cd03262	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	53	cd03230	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	45	cd03223	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	60	cd03215	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	cd03292	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	cd03217	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	32	cd03256	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	39	cd03216	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	cd03295	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	66	cd03291	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	36	COG4107	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	35	COG4598	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	66	COG4586	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	295	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	400	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	1202	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	42	COG4167	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	34	COG0411	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	35	COG3845	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	58	COG1131	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	63	COG4175	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	73	COG1134	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	28	cd03299	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	39	cd03297	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	667	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	23	COG4148	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	384	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	81	COG1119	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	54	COG4608	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	46	COG1136	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	29	cd03236	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	46	cd03257	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	28	COG3840	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	31	COG4161	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	33	COG0410	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	32	cd03296	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	37	cd03258	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	30	COG4559	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	39	COG0444	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	35	COG1125	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	37	COG1135	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	32	COG2884	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	364	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	24	cd03271	9961250,NP_061337
5244	126302568	Disease	p.Val425Met	VAR_043088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043088	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	29	cd03231	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	157	COG1121	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	197	cd03233	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	226	cd03213	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	180	cd03234	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	483	COG1122	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	174	cd03232	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	252	COG1124	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	179	cd03369	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	212	COG0396	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	157	COG1116	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	159	COG3638	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	416	COG3839	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	203	COG0488	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	682	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	152	COG4181	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	373	COG3842	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	163	COG1127	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	188	COG1129	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	134	cd03265	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	438	COG4172	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	123	cd03237	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	217	cd03288	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	250	smart00382	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	466	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	145	cd03245	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	200	COG1120	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	144	cd03254	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	187	cd03244	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	164	COG1118	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	142	COG4525	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	162	COG1126	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	141	COG4133	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	133	COG4152	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	139	COG4136	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	158	cd03289	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	208	cd03214	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	151	cd03235	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	1272	cd00267	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	178	cd03225	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	159	cd03226	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	176	COG1117	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	149	COG1137	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	167	cd03248	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	681	COG1123	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	139	cd03268	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	147	cd03247	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	170	cd03220	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	170	cd03259	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	525	cd03238	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	132	cd03269	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	131	cd03298	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	201	cd03301	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	149	cd03266	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	159	cd03264	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	158	cd03224	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	303	cd03228	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	187	cd03229	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	154	cd03290	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	254	cd03250	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	253	cd03221	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	179	cd03293	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	142	cd03222	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	138	COG4604	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	169	cd03260	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	137	cd03300	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	161	cd03251	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	169	cd03294	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	140	COG4555	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	144	cd03261	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	134	COG4138	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	161	cd03253	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	142	cd03252	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	269	cd03249	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	202	cd03263	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	140	COG4619	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	159	cd03267	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	179	cd03219	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	144	cd03218	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	172	cd03255	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	144	cd03246	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	154	cd03262	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	170	cd03230	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	228	cd03223	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	302	cd03215	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	140	cd03292	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	153	cd03217	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	155	cd03256	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	173	cd03216	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	139	cd03295	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	162	cd03291	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	155	COG4107	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	156	COG4598	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	182	COG4586	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	405	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	510	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	252	pfam00005	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	1387	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	152	COG4167	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	206	COG0411	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	155	COG3845	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	196	COG1131	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	177	COG4175	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	167	COG1134	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	132	cd03299	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	152	cd03297	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	820	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	135	COG4148	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	495	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	208	COG1119	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	747	COG4608	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	178	COG1136	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	142	cd03236	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	412	cd03257	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	132	COG3840	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	145	COG4161	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	162	COG0410	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	140	cd03296	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	154	cd03258	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	138	COG4559	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	465	COG0444	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	145	COG1125	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	170	COG1135	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	141	COG2884	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	476	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	233	cd03271	9961250,NP_061337
5244	126302568	Disease	p.Gly535Asp	VAR_043091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043091	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	131	cd03231	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	163	COG1121	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	203	cd03233	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	232	cd03213	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	186	cd03234	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	489	COG1122	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	180	cd03232	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	258	COG1124	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	185	cd03369	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	218	COG0396	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	163	COG1116	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	165	COG3638	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	424	COG3839	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	209	COG0488	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	688	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	158	COG4181	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	379	COG3842	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	169	COG1127	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	194	COG1129	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	140	cd03265	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	444	COG4172	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	129	cd03237	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	223	cd03288	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	257	smart00382	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	472	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	151	cd03245	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	207	COG1120	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	150	cd03254	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	193	cd03244	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	170	COG1118	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	148	COG4525	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	168	COG1126	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	147	COG4133	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	139	COG4152	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	145	COG4136	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	164	cd03289	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	214	cd03214	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	157	cd03235	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	1282	cd00267	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	184	cd03225	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	165	cd03226	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	182	COG1117	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	155	COG1137	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	173	cd03248	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	687	COG1123	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	145	cd03268	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	153	cd03247	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	176	cd03220	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	176	cd03259	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	531	cd03238	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	138	cd03269	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	137	cd03298	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	207	cd03301	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	155	cd03266	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	165	cd03264	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	164	cd03224	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	313	cd03228	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	193	cd03229	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	160	cd03290	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	260	cd03250	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	259	cd03221	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	185	cd03293	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	148	cd03222	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	144	COG4604	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	175	cd03260	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	143	cd03300	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	167	cd03251	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	175	cd03294	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	146	COG4555	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	150	cd03261	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	140	COG4138	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	167	cd03253	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	148	cd03252	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	275	cd03249	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	208	cd03263	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	146	COG4619	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	165	cd03267	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	185	cd03219	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	150	cd03218	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	178	cd03255	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	150	cd03246	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	160	cd03262	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	176	cd03230	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	234	cd03223	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	308	cd03215	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	146	cd03292	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	159	cd03217	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	161	cd03256	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	179	cd03216	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	145	cd03295	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	168	cd03291	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	161	COG4107	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	162	COG4598	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	188	COG4586	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	411	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	516	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	260	pfam00005	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	1393	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	158	COG4167	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	212	COG0411	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	161	COG3845	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	202	COG1131	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	183	COG4175	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	173	COG1134	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	138	cd03299	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	158	cd03297	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	826	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	141	COG4148	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	501	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	214	COG1119	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	753	COG4608	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	184	COG1136	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	148	cd03236	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	418	cd03257	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	138	COG3840	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	151	COG4161	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	168	COG0410	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	146	cd03296	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	160	cd03258	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	144	COG4559	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	471	COG0444	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	151	COG1125	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	176	COG1135	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	147	COG2884	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	482	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	239	cd03271	9961250,NP_061337
5244	126302568	Disease	p.Ile541Phe	VAR_043092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043092	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	137	cd03231	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	168	COG1121	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	208	cd03233	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	237	cd03213	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	191	cd03234	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	494	COG1122	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	185	cd03232	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	263	COG1124	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	190	cd03369	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	223	COG0396	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	168	COG1116	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	170	COG3638	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	429	COG3839	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	214	COG0488	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	693	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	163	COG4181	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	384	COG3842	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	174	COG1127	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	199	COG1129	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	145	cd03265	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	449	COG4172	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	134	cd03237	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	228	cd03288	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	262	smart00382	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	477	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	156	cd03245	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	212	COG1120	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	155	cd03254	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	198	cd03244	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	175	COG1118	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	153	COG4525	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	173	COG1126	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	152	COG4133	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	144	COG4152	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	150	COG4136	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	169	cd03289	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	219	cd03214	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	162	cd03235	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	1287	cd00267	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	189	cd03225	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	170	cd03226	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	187	COG1117	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	160	COG1137	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	178	cd03248	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	692	COG1123	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	150	cd03268	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	158	cd03247	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	181	cd03220	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	181	cd03259	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	536	cd03238	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	143	cd03269	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	142	cd03298	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	212	cd03301	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	160	cd03266	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	170	cd03264	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	169	cd03224	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	318	cd03228	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	198	cd03229	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	165	cd03290	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	265	cd03250	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	264	cd03221	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	190	cd03293	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	153	cd03222	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	149	COG4604	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	180	cd03260	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	148	cd03300	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	172	cd03251	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	180	cd03294	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	151	COG4555	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	155	cd03261	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	145	COG4138	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	172	cd03253	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	153	cd03252	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	280	cd03249	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	213	cd03263	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	151	COG4619	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	170	cd03267	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	190	cd03219	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	155	cd03218	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	183	cd03255	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	155	cd03246	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	165	cd03262	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	181	cd03230	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	239	cd03223	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	313	cd03215	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	151	cd03292	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	164	cd03217	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	166	cd03256	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	184	cd03216	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	150	cd03295	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	173	cd03291	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	166	COG4107	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	167	COG4598	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	193	COG4586	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	416	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	521	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	265	pfam00005	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	1398	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	163	COG4167	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	217	COG0411	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	166	COG3845	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	212	COG1131	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	188	COG4175	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	178	COG1134	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	143	cd03299	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	163	cd03297	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	831	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	146	COG4148	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	506	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	219	COG1119	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	758	COG4608	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	189	COG1136	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	153	cd03236	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	423	cd03257	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	143	COG3840	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	156	COG4161	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	173	COG0410	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	151	cd03296	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	165	cd03258	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	149	COG4559	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	476	COG0444	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	156	COG1125	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	181	COG1135	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	152	COG2884	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	487	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	244	cd03271	9961250,NP_061337
5244	126302568	Disease	p.Ala546Asp	VAR_023503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023503	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	142	cd03231	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	178	COG1121	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	219	cd03233	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	247	cd03213	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	207	cd03234	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	510	COG1122	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	196	cd03232	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	273	COG1124	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	200	cd03369	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	233	COG0396	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	178	COG1116	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	180	COG3638	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	440	COG3839	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	234	COG0488	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	703	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	173	COG4181	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	394	COG3842	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	191	COG1127	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	215	COG1129	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	155	cd03265	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	459	COG4172	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	144	cd03237	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	238	cd03288	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	313	smart00382	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	487	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	166	cd03245	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	222	COG1120	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	165	cd03254	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	210	cd03244	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	185	COG1118	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	163	COG4525	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	183	COG1126	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	162	COG4133	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	154	COG4152	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	160	COG4136	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	179	cd03289	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	237	cd03214	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	172	cd03235	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	1311	cd00267	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	199	cd03225	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	180	cd03226	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	197	COG1117	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	173	COG1137	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	188	cd03248	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	702	COG1123	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	160	cd03268	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	168	cd03247	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	191	cd03220	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	192	cd03259	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	550	cd03238	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	153	cd03269	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	152	cd03298	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	222	cd03301	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	170	cd03266	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	180	cd03264	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	180	cd03224	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	330	cd03228	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	208	cd03229	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	175	cd03290	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	275	cd03250	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	275	cd03221	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	200	cd03293	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	163	cd03222	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	159	COG4604	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	190	cd03260	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	158	cd03300	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	182	cd03251	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	190	cd03294	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	161	COG4555	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	172	cd03261	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	162	COG4138	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	182	cd03253	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	163	cd03252	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	290	cd03249	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	223	cd03263	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	161	COG4619	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	180	cd03267	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	200	cd03219	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	168	cd03218	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	193	cd03255	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	165	cd03246	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	175	cd03262	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	193	cd03230	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	306	cd03223	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	328	cd03215	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	161	cd03292	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	174	cd03217	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	176	cd03256	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	200	cd03216	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	160	cd03295	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	183	cd03291	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	176	COG4107	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	177	COG4598	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	203	COG4586	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	426	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	531	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	278	pfam00005	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	1410	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	173	COG4167	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	227	COG0411	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	176	COG3845	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	223	COG1131	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	198	COG4175	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	188	COG1134	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	153	cd03299	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	173	cd03297	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	841	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	156	COG4148	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	517	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	229	COG1119	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	768	COG4608	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	199	COG1136	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	164	cd03236	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	433	cd03257	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	153	COG3840	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	166	COG4161	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	183	COG0410	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	161	cd03296	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	175	cd03258	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	167	COG4559	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	486	COG0444	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	166	COG1125	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	191	COG1135	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	162	COG2884	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	498	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	259	cd03271	9961250,NP_061337
5244	126302568	Disease	p.Leu556Arg	VAR_043093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043093	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	152	cd03231	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	186	COG1121	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	227	cd03233	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	255	cd03213	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	215	cd03234	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	518	COG1122	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	204	cd03232	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	281	COG1124	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	208	cd03369	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	241	COG0396	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	186	COG1116	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	188	COG3638	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	449	COG3839	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	242	COG0488	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	711	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	181	COG4181	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	402	COG3842	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	199	COG1127	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	223	COG1129	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	163	cd03265	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	467	COG4172	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	152	cd03237	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	246	cd03288	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	322	smart00382	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	495	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	174	cd03245	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	230	COG1120	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	173	cd03254	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	218	cd03244	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	193	COG1118	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	171	COG4525	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	191	COG1126	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	170	COG4133	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	162	COG4152	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	168	COG4136	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	187	cd03289	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	245	cd03214	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	180	cd03235	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	1319	cd00267	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	207	cd03225	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	188	cd03226	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	205	COG1117	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	181	COG1137	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	196	cd03248	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	710	COG1123	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	168	cd03268	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	176	cd03247	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	199	cd03220	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	200	cd03259	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	558	cd03238	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	161	cd03269	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	160	cd03298	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	230	cd03301	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	178	cd03266	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	188	cd03264	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	188	cd03224	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	338	cd03228	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	216	cd03229	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	183	cd03290	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	283	cd03250	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	283	cd03221	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	208	cd03293	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	171	cd03222	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	167	COG4604	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	198	cd03260	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	166	cd03300	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	190	cd03251	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	198	cd03294	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	169	COG4555	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	180	cd03261	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	170	COG4138	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	190	cd03253	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	171	cd03252	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	298	cd03249	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	231	cd03263	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	169	COG4619	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	188	cd03267	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	208	cd03219	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	176	cd03218	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	201	cd03255	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	173	cd03246	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	183	cd03262	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	201	cd03230	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	314	cd03223	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	336	cd03215	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	169	cd03292	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	182	cd03217	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	184	cd03256	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	208	cd03216	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	168	cd03295	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	191	cd03291	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	184	COG4107	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	185	COG4598	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	211	COG4586	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	434	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	539	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	1418	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	181	COG4167	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	235	COG0411	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	189_G	COG3845	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	231	COG1131	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	206	COG4175	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	196	COG1134	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	161	cd03299	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	181	cd03297	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	849	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	164	COG4148	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	525	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	237	COG1119	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	776	COG4608	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	208	COG1136	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	172	cd03236	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	441	cd03257	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	161	COG3840	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	174	COG4161	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	191	COG0410	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	169	cd03296	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	183	cd03258	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	175	COG4559	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	494	COG0444	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	174	COG1125	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	199	COG1135	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	170	COG2884	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	506	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	267	cd03271	9961250,NP_061337
5244	126302568	Disease	p.Asp564Gly	VAR_043094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043094	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	160	cd03231	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	215	COG1121	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	258	cd03233	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	306	cd03213	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	312	cd03234	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	547	COG1122	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	232	cd03232	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	310	COG1124	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	235	cd03369	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	283	COG0396	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	236	COG1116	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	217	COG3638	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	484	COG3839	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	272	COG0488	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	739	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	210	COG4181	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	433	COG3842	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	230	COG1127	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	253	COG1129	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	198	cd03265	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	496	COG4172	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	179_G	cd03237	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	273	cd03288	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	620	smart00382	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	524	COG4615	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	202	cd03245	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	259	COG1120	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	200	cd03254	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	246	cd03244	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	222	COG1118	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	200	COG4525	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	220	COG1126	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	198	COG4133	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	190	COG4152	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	197	COG4136	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	214	cd03289	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	274	cd03214	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	209	cd03235	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	1357	cd00267	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	238	cd03225	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	219	cd03226	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	234	COG1117	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	220	COG1137	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	270	cd03248	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	739	COG1123	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	197	cd03268	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	203	cd03247	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	228	cd03220	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	230	cd03259	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	587	cd03238	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	189	cd03269	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	189	cd03298	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	259	cd03301	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	209	cd03266	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	216	cd03264	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	218	cd03224	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	375	cd03228	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	245	cd03229	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	213	cd03290	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	316	cd03250	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	313	cd03221	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	253	cd03293	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	200	cd03222	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	196	COG4604	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	230	cd03260	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	195	cd03300	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	217	cd03251	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	227	cd03294	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	197	COG4555	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	218	cd03261	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	198	COG4138	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	224	cd03253	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	198	cd03252	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	329	cd03249	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	283	cd03263	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	200	COG4619	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	227	cd03267	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	238	cd03219	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	214_G	cd03218	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	231	cd03255	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	201	cd03246	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	212	cd03262	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	232	cd03230	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	341	cd03223	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	365	cd03215	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	197	cd03292	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	226	cd03217	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	217	cd03256	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	237	cd03216	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	203	cd03295	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	219	cd03291	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	213	COG4107	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	213	COG4598	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	240	COG4586	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	463	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	567	COG4618	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	1454	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	210	COG4167	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	265	COG0411	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	219	COG3845	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	261	COG1131	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	235	COG4175	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	225	COG1134	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	190	cd03299	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	210	cd03297	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	889	COG4178	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	203	COG4148	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	554	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	267	COG1119	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	805	COG4608	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	237	COG1136	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	201	cd03236	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	471	cd03257	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	190	COG3840	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	202	COG4161	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	221	COG0410	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	198	cd03296	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	212	cd03258	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	204	COG4559	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	524	COG0444	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	209	COG1125	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	228	COG1135	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	198	COG2884	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	534	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	295	cd03271	9961250,NP_061337
5244	126302568	Disease	p.Leu591Gln	VAR_043096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043096	- Cholelithiasis [MIM:600803]	SWISS	189	cd03231	9961250,NP_061337
5244	126302568	Disease	p.Phe711Ser	VAR_043097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043097	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	648	COG3839	9961250,NP_061337
5244	126302568	Disease	p.Phe711Ser	VAR_043097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043097	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	480	COG0488	9961250,NP_061337
5244	126302568	Disease	p.Phe711Ser	VAR_043097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043097	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	581	COG3842	9961250,NP_061337
5244	126302568	Disease	p.Phe711Ser	VAR_043097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043097	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	461	COG1129	9961250,NP_061337
5244	126302568	Disease	p.Phe711Ser	VAR_043097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043097	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	2	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Phe711Ser	VAR_043097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043097	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	378	COG1118	9961250,NP_061337
5244	126302568	Disease	p.Phe711Ser	VAR_043097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043097	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	95	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Phe711Ser	VAR_043097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043097	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	38	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Phe711Ser	VAR_043097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043097	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	593	COG3845	9961250,NP_061337
5244	126302568	Disease	p.Phe711Ser	VAR_043097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043097	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	385	COG4175	9961250,NP_061337
5244	126302568	Disease	p.Phe711Ser	VAR_043097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043097	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	354	COG4148	9961250,NP_061337
5244	126302568	Disease	p.Phe711Ser	VAR_043097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043097	- Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	352	COG1125	9961250,NP_061337
5244	126302568	Disease	p.Gly762Glu	VAR_043099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043099	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	555	COG0488	9961250,NP_061337
5244	126302568	Disease	p.Gly762Glu	VAR_043099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043099	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	541	COG1129	9961250,NP_061337
5244	126302568	Disease	p.Gly762Glu	VAR_043099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043099	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	49	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Gly762Glu	VAR_043099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043099	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	242	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Gly762Glu	VAR_043099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043099	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	107	pfam00664	9961250,NP_061337
5244	126302568	Disease	p.Gly762Glu	VAR_043099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043099	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	31	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Gly762Glu	VAR_043099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043099	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	280	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Ala934Thr	VAR_043102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043102	- Cholelithiasis [MIM:600803]	SWISS	162	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Ala934Thr	VAR_043102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043102	- Cholelithiasis [MIM:600803]	SWISS	219_G	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Ala934Thr	VAR_043102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043102	- Cholelithiasis [MIM:600803]	SWISS	411	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Ala934Thr	VAR_043102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043102	- Cholelithiasis [MIM:600803]	SWISS	316	pfam00664	9961250,NP_061337
5244	126302568	Disease	p.Ala934Thr	VAR_043102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043102	- Cholelithiasis [MIM:600803]	SWISS	250	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Ala934Thr	VAR_043102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043102	- Cholelithiasis [MIM:600803]	SWISS	734	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Gly983Ser	VAR_043103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043103	rs56187107 Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	212	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Gly983Ser	VAR_043103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043103	rs56187107 Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	21	cd03288	9961250,NP_061337
5244	126302568	Disease	p.Gly983Ser	VAR_043103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043103	rs56187107 Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	279_G	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Gly983Ser	VAR_043103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043103	rs56187107 Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	466	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Gly983Ser	VAR_043103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043103	rs56187107 Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	372	pfam00664	9961250,NP_061337
5244	126302568	Disease	p.Gly983Ser	VAR_043103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043103	rs56187107 Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	298	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Gly983Ser	VAR_043103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043103	rs56187107 Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]	SWISS	845	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	140	COG4107	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	177	COG1131	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	142_G	COG4598	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	389	COG5265	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	201	cd03288	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	163	cd03369	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	478	COG1122	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	246	COG1124	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	209	cd03213	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	152	COG1116	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	460	COG4988	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	159_G	COG1117	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	666	COG2274	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	128	cd03254	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	171	cd03244	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	195	COG1120	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	129	cd03245	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	142	cd03289	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	147_G	COG4674	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	1256	cd00267	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	173	cd03225	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	199_G	cd03214	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	139	cd03235	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	154	cd03226	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	149	COG4778	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	479	COG4987	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	1354	COG1132	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	153	cd03260	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	211	cd03250	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	182	cd03229	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	287	cd03228	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	138	cd03290	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	125	cd03221	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	128	COG4555	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	145	cd03251	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	145	cd03253	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	126	cd03252	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	248	cd03249	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	127	COG4619	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	164	cd03216	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	174	cd03293	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	131	cd03247	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	126	cd03298	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	165	cd03259	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	192	cd03301	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	128	cd03292	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	157	cd03255	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	128	cd03246	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	165	cd03230	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	149	cd03262	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	213	cd03223	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	139	cd03261	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	150	cd03248	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	217	pfam00005	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	147	cd03297	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	234	smart00382	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	165	COG1136	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	142	cd03258	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	123_G	COG2884	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	396	cd03257	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	127_G	cd03296	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	127	COG3840	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	130_G	COG4161	9961250,NP_061337
5244	126302568	Disease	p.Pro1168Ser	VAR_023504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023504	- Cholelithiasis [MIM:600803]	SWISS	135	COG1101	9961250,NP_061337
22	8928549	Disease	p.Ile400Met	VAR_009156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009156	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	786	COG1132	NULL
22	8928549	Disease	p.Ile400Met	VAR_009156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009156	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	249_G	COG4988	NULL
22	8928549	Disease	p.Ile400Met	VAR_009156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009156	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	510	COG4178	NULL
22	8928549	Disease	p.Ile400Met	VAR_009156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009156	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	440	COG2274	NULL
22	8928549	Disease	p.Ile400Met	VAR_009156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009156	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	303	COG4618	NULL
22	8928549	Disease	p.Ile400Met	VAR_009156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009156	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	264	COG4615	NULL
22	8928549	Disease	p.Ile400Met	VAR_009156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009156	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	349	pfam00664	NULL
22	8928549	Disease	p.Ile400Met	VAR_009156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009156	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	320_G	COG1123	NULL
22	8928549	Disease	p.Ile400Met	VAR_009156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009156	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	279	COG4987	NULL
22	8928549	Disease	p.Ile400Met	VAR_009156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009156	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	4	cd03288	NULL
22	8928549	Disease	p.Ile400Met	VAR_009156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009156	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	334	COG0488	NULL
22	8928549	Disease	p.Ile400Met	VAR_009156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009156	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	116_G	COG4172	NULL
22	8928549	Disease	p.Ile400Met	VAR_009156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009156	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	192	COG5265	NULL
22	8928549	Disease	p.Val411Leu	VAR_022874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022874	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	836	COG1132	NULL
22	8928549	Disease	p.Val411Leu	VAR_022874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022874	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	264	COG4988	NULL
22	8928549	Disease	p.Val411Leu	VAR_022874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022874	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	521	COG4178	NULL
22	8928549	Disease	p.Val411Leu	VAR_022874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022874	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	457	COG2274	NULL
22	8928549	Disease	p.Val411Leu	VAR_022874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022874	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	320	COG4618	NULL
22	8928549	Disease	p.Val411Leu	VAR_022874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022874	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	274	COG4615	NULL
22	8928549	Disease	p.Val411Leu	VAR_022874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022874	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	365	pfam00664	NULL
22	8928549	Disease	p.Val411Leu	VAR_022874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022874	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	327	COG1123	NULL
22	8928549	Disease	p.Val411Leu	VAR_022874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022874	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	290	COG4987	NULL
22	8928549	Disease	p.Val411Leu	VAR_022874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022874	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	14	cd03288	NULL
22	8928549	Disease	p.Val411Leu	VAR_022874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022874	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	355	COG0488	NULL
22	8928549	Disease	p.Val411Leu	VAR_022874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022874	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	127	COG4172	NULL
22	8928549	Disease	p.Val411Leu	VAR_022874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022874	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	203	COG5265	NULL
22	8928549	Disease	p.Glu433Lys	VAR_012640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012640	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	874	COG1132	NULL
22	8928549	Disease	p.Glu433Lys	VAR_012640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012640	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	291	COG4988	NULL
22	8928549	Disease	p.Glu433Lys	VAR_012640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012640	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	543	COG4178	NULL
22	8928549	Disease	p.Glu433Lys	VAR_012640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012640	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	479	COG2274	NULL
22	8928549	Disease	p.Glu433Lys	VAR_012640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012640	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	329_G	COG4618	NULL
22	8928549	Disease	p.Glu433Lys	VAR_012640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012640	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	293	COG4615	NULL
22	8928549	Disease	p.Glu433Lys	VAR_012640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012640	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	349	COG1123	NULL
22	8928549	Disease	p.Glu433Lys	VAR_012640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012640	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	315	COG4987	NULL
22	8928549	Disease	p.Glu433Lys	VAR_012640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012640	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	34	cd03288	NULL
22	8928549	Disease	p.Glu433Lys	VAR_012640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012640	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	379	COG0488	NULL
22	8928549	Disease	p.Glu433Lys	VAR_012640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012640	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	207	COG4172	NULL
22	8928549	Disease	p.Glu433Lys	VAR_012640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012640	- X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]	SWISS	225	COG5265	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	167	cd03291	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	128	cd03237	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	143	COG4604	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	164	cd03226	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	149	cd03254	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	156	cd03235	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	1281	cd00267	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	183	cd03225	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	307	cd03215	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	150	cd03245	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	222	cd03288	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	140	COG4148	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	157	cd03297	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	185	cd03234	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	169	COG1118	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	184	cd03293	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	168	COG1127	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	147	cd03252	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	274	cd03249	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	144	cd03295	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	177	cd03255	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	149	cd03246	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	175	cd03230	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	147	COG4525	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	144	COG4136	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	145	COG4619	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	166	cd03251	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	145	cd03296	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	150	COG4161	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	159	cd03290	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	312	cd03228	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	258	cd03221	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	259	cd03250	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	192	cd03229	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	146	COG4133	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	157	COG4181	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	136	cd03298	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	206	cd03301	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	152	cd03247	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	142	cd03300	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	158	cd03217	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	167	COG1126	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	213	cd03214	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	1392	COG1132	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	471	COG4615	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	162	COG1121	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	259	pfam00005	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	162	COG1116	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	423	COG3839	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	208	COG0488	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	488	COG1122	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	154	COG1137	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	202	cd03233	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	161	COG4598	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	164	COG3638	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	172	COG1134	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	378	COG3842	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	181	COG1117	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	686	COG1123	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	201	COG1131	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	137	cd03269	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	238	cd03271	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	255	smart00382	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	187	COG4586	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	146	COG2884	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	137	COG3840	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	175	COG1135	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	183	COG1136	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	150	COG1125	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	163	cd03289	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	217	COG0396	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	175	cd03220	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	136	cd03231	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	147	cd03222	NULL
1244	308153583	Disease	p.Arg768Trp	VAR_000099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000099	rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	157	COG4167	NULL
1244	308153583	Disease	p.Arg1150His	VAR_013327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013327	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	112	COG5265	NULL
1244	308153583	Disease	p.Arg1150His	VAR_013327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013327	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	361	COG2274	NULL
1244	308153583	Disease	p.Arg1150His	VAR_013327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013327	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	222	COG4618	NULL
1244	308153583	Disease	p.Arg1150His	VAR_013327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013327	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	172	COG4988	NULL
1244	308153583	Disease	p.Arg1150His	VAR_013327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013327	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	249	pfam00664	NULL
1244	308153583	Disease	p.Arg1150His	VAR_013327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013327	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	200	COG4987	NULL
1244	308153583	Disease	p.Arg1150His	VAR_013327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013327	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	407	COG4178	NULL
1244	308153583	Disease	p.Arg1150His	VAR_013327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013327	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	605	COG1132	NULL
1244	308153583	Disease	p.Ile1173Phe	VAR_013328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013328	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	135	COG5265	NULL
1244	308153583	Disease	p.Ile1173Phe	VAR_013328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013328	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	383	COG2274	NULL
1244	308153583	Disease	p.Ile1173Phe	VAR_013328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013328	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	239	COG4618	NULL
1244	308153583	Disease	p.Ile1173Phe	VAR_013328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013328	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	193	COG4988	NULL
1244	308153583	Disease	p.Ile1173Phe	VAR_013328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013328	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	286	pfam00664	NULL
1244	308153583	Disease	p.Ile1173Phe	VAR_013328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013328	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	222	COG4987	NULL
1244	308153583	Disease	p.Ile1173Phe	VAR_013328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013328	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	436	COG4178	NULL
1244	308153583	Disease	p.Ile1173Phe	VAR_013328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013328	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	651	COG1132	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	60	pfam00005	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	254	cd03257	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	242	COG0444	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	98	cd03258	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	97	smart00382	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	119	cd03225	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	228	cd00267	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	142	cd03214	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	347	COG5265	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	160	cd03288	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	623	COG2274	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	452	COG4618	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	121	COG0411	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	101_G	cd03219	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	422	COG1122	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	103	cd03213	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	94	COG0410	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	104	COG1124	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	95	cd03248	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	417	COG4988	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	96	cd03244	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	87	cd03245	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	132	COG1120	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	84	cd03289	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	84	cd03254	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	78	cd03299	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	156	COG4608	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	128	COG1131	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	122	cd03294	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	89	cd03369	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	436	COG4987	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	720	COG4178	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	1277	COG1132	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	82	COG4559	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	123	cd03229	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	97	cd03290	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	166	cd03250	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	202	cd03228	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	86	cd03261	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	102	cd03253	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	161	cd03249	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	87	COG1101	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	79	COG4138	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	94	cd03224	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	87	COG4555	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	105	cd03216	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	92	cd03256	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	134	cd03263	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	80	cd03265	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	84	cd03268	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	94	cd03266	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	83	cd03247	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	104	cd03264	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	110	cd03259	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	102	cd03267	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	86	cd03251	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	86	cd03292	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	98	cd03262	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	86	cd03246	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	127	cd03223	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	108	cd03230	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	98	cd03260	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	84	cd03218	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	84	cd03252	NULL
1244	308153583	Disease	p.Gln1382Arg	VAR_010756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010756	- Dubin-Johnson syndrome (DJS) [MIM:237500]	SWISS	135_G	COG1119	NULL
368	269849624	Disease	p.Thr364Arg	VAR_013370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013370	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	98	COG4618	NULL
368	269849624	Disease	p.Thr364Arg	VAR_013370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013370	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	289	COG1132	NULL
368	269849624	Disease	p.Thr364Arg	VAR_013370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013370	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	115	pfam00664	NULL
368	269849624	Disease	p.Asn411Lys	VAR_013371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013371	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	22	COG0488	NULL
368	269849624	Disease	p.Asn411Lys	VAR_013371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013371	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	150	COG4618	NULL
368	269849624	Disease	p.Asn411Lys	VAR_013371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013371	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	390	COG1132	NULL
368	269849624	Disease	p.Asn411Lys	VAR_013371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013371	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	173	pfam00664	NULL
368	269849624	Disease	p.Ala455Pro	VAR_013372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013372	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	178	COG0488	NULL
368	269849624	Disease	p.Ala455Pro	VAR_013372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013372	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	190	COG4618	NULL
368	269849624	Disease	p.Ala455Pro	VAR_013372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013372	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	511	COG1132	NULL
368	269849624	Disease	p.Ala455Pro	VAR_013372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013372	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	224	pfam00664	NULL
368	269849624	Disease	p.Arg518Gln	VAR_013374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013374	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	283	COG0488	NULL
368	269849624	Disease	p.Arg518Gln	VAR_013374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013374	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	250	COG4618	NULL
368	269849624	Disease	p.Arg518Gln	VAR_013374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013374	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	683	COG1132	NULL
368	269849624	Disease	p.Arg518Gln	VAR_013374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013374	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	304	pfam00664	NULL
368	269849624	Disease	p.Phe568Ser	VAR_013375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013375	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	370	COG0488	NULL
368	269849624	Disease	p.Phe568Ser	VAR_013375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013375	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	304	COG4618	NULL
368	269849624	Disease	p.Phe568Ser	VAR_013375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013375	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	13	cd03288	NULL
368	269849624	Disease	p.Phe568Ser	VAR_013375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013375	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	836	COG1132	NULL
368	269849624	Disease	p.Phe568Ser	VAR_013375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013375	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	365	pfam00664	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	534	COG0488	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	55	COG4181	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	60	COG1129	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	80	COG4586	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	87	COG1134	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	43	cd03222	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	414	COG4618	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	64	COG1127	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	21	smart00382	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	80	cd03291	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	122	cd03288	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	41	COG4148	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	63	cd03233	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	53	cd03297	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	46	COG4136	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	cd03245	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	55	COG1122	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	COG3638	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	52	COG1116	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	72	COG1131	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	69	COG3839	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	COG1125	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	54	COG4525	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	4	pfam00005	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	42	COG4138	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	55	COG0396	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	COG1121	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	67	cd03229	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	43	cd03231	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	67	cd03259	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	60	cd03225	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	100	cd00267	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	44	COG4559	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	45	cd03235	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	59	cd03214	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	42	cd03299	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	47	cd03300	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	64	cd03253	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	46	cd03249	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	46	cd03296	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	45	COG4161	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	67	cd03230	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	46	cd03271	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	48	cd03246	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	61	COG1118	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	46	cd03252	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	66	cd03301	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	45	cd03247	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	46	cd03254	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	77	cd03228	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	115	cd03250	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	cd03221	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	45	cd03290	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	COG4133	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	48	cd03251	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	47	cd03289	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	1225	COG1132	NULL
368	269849624	Disease	p.Leu673Pro	VAR_013377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013377	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	60	COG3842	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	671	COG0488	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	162	COG4181	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	198	COG1129	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	192	COG4586	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	177	COG1134	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	152	cd03222	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	520	COG4618	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	173	COG1127	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	261	smart00382	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	172	cd03291	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	227	cd03288	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	145	COG4148	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	207	cd03233	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	162	cd03297	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	149	COG4136	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	155	cd03245	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	493	COG1122	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	169	COG3638	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	167	COG1116	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	211	COG1131	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	428	COG3839	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	155	COG1125	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	152	COG4525	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	264	pfam00005	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	144	COG4138	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	222	COG0396	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	167	COG1121	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	197	cd03229	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	141	cd03231	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	180	cd03259	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	188	cd03225	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	1286	cd00267	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	148	COG4559	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	161	cd03235	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	218	cd03214	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	142	cd03299	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	147	cd03300	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	171	cd03253	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	279	cd03249	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	150	cd03296	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	155	COG4161	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	180	cd03230	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	243	cd03271	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	154	cd03246	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	174	COG1118	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	152	cd03252	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	211	cd03301	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	157	cd03247	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	154	cd03254	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	317	cd03228	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	264	cd03250	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	263	cd03221	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	164	cd03290	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	151	COG4133	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	171	cd03251	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	168	cd03289	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	1397	COG1132	NULL
368	269849624	Disease	p.Arg765Gln	VAR_013378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013378	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	383	COG3842	NULL
368	269849624	Disease	p.Arg1114Pro	VAR_011491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011491	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	249	pfam00664	NULL
368	269849624	Disease	p.Arg1114Pro	VAR_011491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011491	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	100	COG1123	NULL
368	269849624	Disease	p.Arg1114Pro	VAR_011491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011491	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	36	COG4172	NULL
368	269849624	Disease	p.Arg1114Pro	VAR_011491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011491	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	199	COG4987	NULL
368	269849624	Disease	p.Arg1114Pro	VAR_011491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011491	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	415	COG4178	NULL
368	269849624	Disease	p.Arg1114Pro	VAR_011491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011491	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	605	COG1132	NULL
368	269849624	Disease	p.Arg1114Pro	VAR_011491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011491	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	182	COG4615	NULL
368	269849624	Disease	p.Arg1114Pro	VAR_011491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011491	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	112	COG5265	NULL
368	269849624	Disease	p.Arg1114Pro	VAR_011491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011491	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	361	COG2274	NULL
368	269849624	Disease	p.Arg1114Pro	VAR_011491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011491	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	168	COG4988	NULL
368	269849624	Disease	p.Ser1121Trp	VAR_013380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013380	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	265	pfam00664	NULL
368	269849624	Disease	p.Ser1121Trp	VAR_013380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013380	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	107	COG1123	NULL
368	269849624	Disease	p.Ser1121Trp	VAR_013380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013380	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	55	COG4172	NULL
368	269849624	Disease	p.Ser1121Trp	VAR_013380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013380	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	206	COG4987	NULL
368	269849624	Disease	p.Ser1121Trp	VAR_013380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013380	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	420	COG4178	NULL
368	269849624	Disease	p.Ser1121Trp	VAR_013380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013380	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	635	COG1132	NULL
368	269849624	Disease	p.Ser1121Trp	VAR_013380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013380	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	189	COG4615	NULL
368	269849624	Disease	p.Ser1121Trp	VAR_013380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013380	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	119	COG5265	NULL
368	269849624	Disease	p.Ser1121Trp	VAR_013380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013380	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	367	COG2274	NULL
368	269849624	Disease	p.Ser1121Trp	VAR_013380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013380	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	177	COG4988	NULL
368	269849624	Disease	p.Arg1138Pro	VAR_013381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013381	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	287	pfam00664	NULL
368	269849624	Disease	p.Arg1138Pro	VAR_013381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013381	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	137	COG1123	NULL
368	269849624	Disease	p.Arg1138Pro	VAR_013381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013381	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	82	COG4172	NULL
368	269849624	Disease	p.Arg1138Pro	VAR_013381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013381	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	223	COG4987	NULL
368	269849624	Disease	p.Arg1138Pro	VAR_013381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013381	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	437	COG4178	NULL
368	269849624	Disease	p.Arg1138Pro	VAR_013381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013381	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	652	COG1132	NULL
368	269849624	Disease	p.Arg1138Pro	VAR_013381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013381	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	205	COG4615	NULL
368	269849624	Disease	p.Arg1138Pro	VAR_013381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013381	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	136	COG5265	NULL
368	269849624	Disease	p.Arg1138Pro	VAR_013381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013381	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	384	COG2274	NULL
368	269849624	Disease	p.Arg1138Pro	VAR_013381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013381	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	194	COG4988	NULL
368	269849624	Disease	p.Arg1138Gln	VAR_011492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011492	rs60791294 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	287	pfam00664	NULL
368	269849624	Disease	p.Arg1138Gln	VAR_011492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011492	rs60791294 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	137	COG1123	NULL
368	269849624	Disease	p.Arg1138Gln	VAR_011492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011492	rs60791294 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	82	COG4172	NULL
368	269849624	Disease	p.Arg1138Gln	VAR_011492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011492	rs60791294 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	223	COG4987	NULL
368	269849624	Disease	p.Arg1138Gln	VAR_011492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011492	rs60791294 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	437	COG4178	NULL
368	269849624	Disease	p.Arg1138Gln	VAR_011492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011492	rs60791294 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	652	COG1132	NULL
368	269849624	Disease	p.Arg1138Gln	VAR_011492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011492	rs60791294 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	205	COG4615	NULL
368	269849624	Disease	p.Arg1138Gln	VAR_011492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011492	rs60791294 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	136	COG5265	NULL
368	269849624	Disease	p.Arg1138Gln	VAR_011492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011492	rs60791294 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	384	COG2274	NULL
368	269849624	Disease	p.Arg1138Gln	VAR_011492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011492	rs60791294 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	194	COG4988	NULL
368	269849624	Disease	p.Arg1138Trp	VAR_011493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011493	rs28939701 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	287	pfam00664	NULL
368	269849624	Disease	p.Arg1138Trp	VAR_011493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011493	rs28939701 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	137	COG1123	NULL
368	269849624	Disease	p.Arg1138Trp	VAR_011493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011493	rs28939701 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	82	COG4172	NULL
368	269849624	Disease	p.Arg1138Trp	VAR_011493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011493	rs28939701 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	223	COG4987	NULL
368	269849624	Disease	p.Arg1138Trp	VAR_011493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011493	rs28939701 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	437	COG4178	NULL
368	269849624	Disease	p.Arg1138Trp	VAR_011493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011493	rs28939701 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	652	COG1132	NULL
368	269849624	Disease	p.Arg1138Trp	VAR_011493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011493	rs28939701 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	205	COG4615	NULL
368	269849624	Disease	p.Arg1138Trp	VAR_011493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011493	rs28939701 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	136	COG5265	NULL
368	269849624	Disease	p.Arg1138Trp	VAR_011493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011493	rs28939701 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	384	COG2274	NULL
368	269849624	Disease	p.Arg1138Trp	VAR_011493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011493	rs28939701 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	194	COG4988	NULL
368	269849624	Disease	p.Gly1203Asp	VAR_013382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013382	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	365	pfam00664	NULL
368	269849624	Disease	p.Gly1203Asp	VAR_013382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013382	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	286	COG1123	NULL
368	269849624	Disease	p.Gly1203Asp	VAR_013382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013382	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	15	cd03288	NULL
368	269849624	Disease	p.Gly1203Asp	VAR_013382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013382	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	182	COG4172	NULL
368	269849624	Disease	p.Gly1203Asp	VAR_013382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013382	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	296	COG4987	NULL
368	269849624	Disease	p.Gly1203Asp	VAR_013382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013382	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	521	COG4178	NULL
368	269849624	Disease	p.Gly1203Asp	VAR_013382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013382	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	836	COG1132	NULL
368	269849624	Disease	p.Gly1203Asp	VAR_013382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013382	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	272	COG4615	NULL
368	269849624	Disease	p.Gly1203Asp	VAR_013382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013382	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	203	COG5265	NULL
368	269849624	Disease	p.Gly1203Asp	VAR_013382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013382	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	457	COG2274	NULL
368	269849624	Disease	p.Gly1203Asp	VAR_013382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013382	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	232	COG4988	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	84	COG1119	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	34	cd03217	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	43	COG1117	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	COG1121	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	COG4598	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	31	COG3840	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	46	cd03248	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	508	COG1123	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	111	cd03288	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	8	smart00382	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	34	cd03219	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	35	cd03256	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	45	COG4674	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	33	COG4604	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	74	cd03220	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	56	cd03259	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	34	cd03247	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	46	cd03266	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	53	cd03267	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	32	cd03269	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	30	cd03298	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	33	cd03268	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	53	cd03264	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	35	COG4619	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	56	cd03229	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	34	cd03290	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	66	cd03228	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	104	cd03250	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	cd03293	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	61	cd03294	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	34	cd03261	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	cd03251	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	34	cd03295	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	36	cd03260	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	53	cd03253	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	COG4555	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	COG1101	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	35	cd03252	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	35	cd03249	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	34	cd03224	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	42	cd03216	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	60	cd03263	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	34	cd03262	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	45	cd03255	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	56	cd03230	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	48	cd03223	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	34	cd03292	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	cd03246	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	32	cd03218	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	40	cd03369	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	40	COG1120	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	36	cd03289	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	cd03245	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	cd03244	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	41	COG1126	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	35	cd03254	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	63	cd03215	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	34	cd03226	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	34	cd03235	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	cd03225	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	89	cd00267	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	48	cd03214	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	41	COG1122	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	48	cd03213	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	46	cd03234	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	46	COG1124	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	327	COG4172	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	32	cd03265	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	COG1137	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	387	COG4987	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	670	COG4178	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	1212	COG1132	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	369	COG4615	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	61	COG1131	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	cd03257	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	COG1136	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	42	COG0444	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	36	COG0410	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	45	COG4167	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	34	COG4161	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	40	COG1135	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	57	COG4608	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	40	cd03258	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	35	COG2884	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	298	COG5265	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	574	COG2274	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	COG0411	NULL
368	269849624	Disease	p.Val1298Phe	VAR_013384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013384	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	367	COG4988	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	87	COG1119	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	cd03217	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	46	COG1117	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	42	COG1121	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	41	COG4598	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	34	COG3840	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	cd03248	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	511	COG1123	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	114	cd03288	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	12	smart00382	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	cd03219	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	cd03256	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	48	COG4674	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	36	COG4604	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	77	cd03220	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	59	cd03259	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	cd03247	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	cd03266	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	56	cd03267	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	35	cd03269	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	33	cd03298	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	36	cd03268	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	56	cd03264	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	COG4619	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	59	cd03229	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	cd03290	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	69	cd03228	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	107	cd03250	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	42	cd03293	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	64	cd03294	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	cd03261	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	40	cd03251	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	cd03295	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	cd03260	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	56	cd03253	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	40	COG4555	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	41	COG1101	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	cd03252	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	cd03249	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	cd03224	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	45	cd03216	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	63	cd03263	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	cd03262	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	48	cd03255	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	59	cd03230	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	51	cd03223	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	cd03292	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	40	cd03246	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	35	cd03218	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	43	cd03369	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	43	COG1120	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	cd03289	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	41	cd03245	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	41	cd03244	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	47	COG1126	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	cd03254	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	66	cd03215	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	cd03226	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	cd03235	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	52	cd03225	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	92	cd00267	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	51	cd03214	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	44	COG1122	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	51	cd03213	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	cd03234	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	COG1124	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	330	COG4172	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	35	cd03265	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	42	COG1137	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	390	COG4987	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	673	COG4178	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	1215	COG1132	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	372	COG4615	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	64	COG1131	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	52	cd03257	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	52	COG1136	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	45	COG0444	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	COG0410	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	48	COG4167	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	COG4161	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	43	COG1135	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	60	COG4608	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	43	cd03258	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	COG2884	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	301	COG5265	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	577	COG2274	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	40	COG0411	NULL
368	269849624	Disease	p.Thr1301Ile	VAR_013385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013385	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	370	COG4988	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	88	COG1119	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	cd03217	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	47	COG1117	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	43	COG1121	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	42	COG4598	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	35	COG3840	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03248	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	512	COG1123	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	115	cd03288	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	13	smart00382	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	cd03219	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	cd03256	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	COG4674	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	COG4604	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	78	cd03220	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	60	cd03259	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	cd03247	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03266	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	57	cd03267	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	36	cd03269	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	34	cd03298	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	cd03268	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	57	cd03264	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	COG4619	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	60	cd03229	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	cd03290	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	70	cd03228	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	108	cd03250	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	43	cd03293	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	65	cd03294	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	cd03261	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	41	cd03251	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	cd03295	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	40	cd03260	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	57	cd03253	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	41	COG4555	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	42	COG1101	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	cd03252	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	cd03249	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	cd03224	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	46	cd03216	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	64	cd03263	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	cd03262	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	cd03255	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	60	cd03230	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	52	cd03223	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	cd03292	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	41	cd03246	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	36	cd03218	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	44	cd03369	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	44	COG1120	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	40	cd03289	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	42	cd03245	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	42	cd03244	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	48	COG1126	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	cd03254	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	67	cd03215	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	cd03226	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	cd03235	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	53	cd03225	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	93	cd00267	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	52	cd03214	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	45	COG1122	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	52	cd03213	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03234	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	COG1124	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	331	COG4172	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	36	cd03265	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	43	COG1137	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	391	COG4987	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	674	COG4178	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	1216	COG1132	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	373	COG4615	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	65	COG1131	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	53	cd03257	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	53	COG1136	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	46	COG0444	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	40	COG0410	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	COG4167	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	COG4161	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	44	COG1135	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	61	COG4608	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	44	cd03258	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	COG2884	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	302	COG5265	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	578	COG2274	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	41	COG0411	NULL
368	269849624	Disease	p.Gly1302Arg	VAR_013386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013386	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	371	COG4988	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	89	COG1119	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	cd03217	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	48	COG1117	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	44	COG1121	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	43	COG4598	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	36	COG3840	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	51	cd03248	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	513	COG1123	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	116	cd03288	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	15	smart00382	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	cd03219	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	40	cd03256	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	COG4674	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	COG4604	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	79	cd03220	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	61	cd03259	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	cd03247	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	51	cd03266	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	58	cd03267	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	cd03269	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	35	cd03298	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	38	cd03268	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	58	cd03264	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	40	COG4619	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	61	cd03229	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	cd03290	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	71	cd03228	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	109	cd03250	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	44	cd03293	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	66	cd03294	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	cd03261	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	42	cd03251	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	cd03295	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	41	cd03260	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	58	cd03253	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	42	COG4555	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	43	COG1101	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	40	cd03252	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	40	cd03249	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	cd03224	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	47	cd03216	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	65	cd03263	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	cd03262	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03255	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	61	cd03230	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	53	cd03223	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	cd03292	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	42	cd03246	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	cd03218	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	45	cd03369	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	45	COG1120	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	41	cd03289	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	43	cd03245	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	43	cd03244	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	COG1126	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	40	cd03254	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	68	cd03215	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	cd03226	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	cd03235	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	54	cd03225	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	94	cd00267	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	53	cd03214	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	COG1122	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	53	cd03213	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	51	cd03234	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	51	COG1124	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	332	COG4172	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	37	cd03265	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	44	COG1137	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	392	COG4987	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	675	COG4178	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	1217	COG1132	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	374	COG4615	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	66	COG1131	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	54	cd03257	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	54	COG1136	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	47	COG0444	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	41	COG0410	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	COG4167	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	39	COG4161	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	45	COG1135	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	62	COG4608	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	45	cd03258	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	40	COG2884	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	303	COG5265	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	579	COG2274	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	42	COG0411	NULL
368	269849624	Disease	p.Ala1303Pro	VAR_013387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013387	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	372	COG4988	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	100	COG1119	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03217	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	59	COG1117	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	55	COG1121	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	54	COG4598	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49_G	COG3840	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	62	cd03248	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	524	COG1123	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	127	cd03288	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	27	smart00382	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03219	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	51	cd03256	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	64	COG4674	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	COG4604	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	90	cd03220	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	72	cd03259	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03247	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	62	cd03266	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	72	cd03267	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	48	cd03269	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	42	cd03298	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	cd03268	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	69	cd03264	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	51	COG4619	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	72	cd03229	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03290	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	82	cd03228	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	120	cd03250	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	55	cd03293	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	77	cd03294	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03261	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	53	cd03251	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03295	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	52	cd03260	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	69	cd03253	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	53	COG4555	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	57	COG1101	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	51	cd03252	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	51	cd03249	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03224	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	58	cd03216	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	76	cd03263	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03262	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	61	cd03255	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	72	cd03230	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	60	cd03223	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03292	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	53	cd03246	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	cd03218	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	56	cd03369	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	56	COG1120	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	52	cd03289	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	54	cd03245	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	54	cd03244	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	60	COG1126	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	51	cd03254	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	79	cd03215	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03226	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03235	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	65	cd03225	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	105	cd00267	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	64	cd03214	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	60	COG1122	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	67	cd03213	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	65	cd03234	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	62	COG1124	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	343	COG4172	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	48	cd03265	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	58	COG1137	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	403	COG4987	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	682	COG4178	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	1230	COG1132	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	385	COG4615	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	77	COG1131	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	65	cd03257	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	68	COG1136	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	58	COG0444	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	52	COG0410	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	61	COG4167	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	COG4161	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	56	COG1135	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	73	COG4608	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	56	cd03258	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	51	COG2884	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	314	COG5265	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	9	pfam00005	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	590	COG2274	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	56	COG0411	NULL
368	269849624	Disease	p.Arg1314Gln	VAR_013388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013388	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	383	COG4988	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	100	COG1119	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03217	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	59	COG1117	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	55	COG1121	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	54	COG4598	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49_G	COG3840	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	62	cd03248	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	524	COG1123	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	127	cd03288	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	27	smart00382	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03219	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	51	cd03256	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	64	COG4674	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	COG4604	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	90	cd03220	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	72	cd03259	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03247	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	62	cd03266	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	72	cd03267	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	48	cd03269	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	42	cd03298	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	cd03268	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	69	cd03264	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	51	COG4619	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	72	cd03229	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03290	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	82	cd03228	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	120	cd03250	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	55	cd03293	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	77	cd03294	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03261	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	53	cd03251	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03295	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	52	cd03260	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	69	cd03253	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	53	COG4555	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	57	COG1101	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	51	cd03252	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	51	cd03249	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03224	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	58	cd03216	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	76	cd03263	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03262	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	61	cd03255	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	72	cd03230	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	60	cd03223	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03292	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	53	cd03246	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	49	cd03218	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	56	cd03369	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	56	COG1120	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	52	cd03289	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	54	cd03245	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	54	cd03244	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	60	COG1126	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	51	cd03254	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	79	cd03215	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03226	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	cd03235	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	65	cd03225	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	105	cd00267	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	64	cd03214	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	60	COG1122	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	67	cd03213	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	65	cd03234	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	62	COG1124	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	343	COG4172	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	48	cd03265	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	58	COG1137	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	403	COG4987	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	682	COG4178	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	1230	COG1132	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	385	COG4615	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	77	COG1131	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	65	cd03257	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	68	COG1136	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	58	COG0444	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	52	COG0410	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	61	COG4167	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	50	COG4161	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	56	COG1135	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	73	COG4608	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	56	cd03258	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	51	COG2884	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	314	COG5265	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	9	pfam00005	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	590	COG2274	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	56	COG0411	NULL
368	269849624	Disease	p.Arg1314Trp	VAR_011495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011495	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	383	COG4988	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	108	COG1119	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	59	cd03217	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	72	COG1117	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	62	COG1121	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	61	COG4598	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	54	COG3840	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	69	cd03248	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	532	COG1123	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	134	cd03288	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	64	smart00382	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	57	cd03219	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	58	cd03256	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	72	COG4674	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	56	COG4604	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	97	cd03220	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	80	cd03259	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	57	cd03247	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	69	cd03266	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	76	cd03267	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	55	cd03269	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	53	cd03298	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	56	cd03268	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	77	cd03264	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	58	COG4619	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	84	cd03229	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	57	cd03290	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	107	cd03228	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	131	cd03250	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	62	cd03293	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	84	cd03294	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	57	cd03261	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	60	cd03251	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	57	cd03295	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	65	cd03260	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	76	cd03253	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	60	COG4555	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	61	COG1101	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	58	cd03252	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	87	cd03249	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	62	cd03224	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	70	cd03216	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	100	cd03263	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	57	cd03262	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	71	cd03255	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	79	cd03230	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	63	cd03223	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	57	cd03292	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	60	cd03246	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	56	cd03218	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	63	cd03369	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	64	COG1120	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	58	cd03289	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	61	cd03245	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	64	cd03244	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	67	COG1126	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	58	cd03254	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	90	cd03215	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	58	cd03226	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	57	cd03235	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	78	cd03225	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	151	cd00267	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	74	cd03214	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	227	COG1122	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	76	cd03213	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	77	cd03234	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	70	COG1124	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	350	COG4172	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	55	cd03265	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	62	COG1137	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	410	COG4987	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	685	COG4178	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	1239	COG1132	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	392	COG4615	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	87	COG1131	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	86	cd03257	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	73	COG1136	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	69	COG0444	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	62	COG0410	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	68	COG4167	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	57	COG4161	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	63	COG1135	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	82	COG4608	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	63	cd03258	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	58	COG2884	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	321	COG5265	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	22	pfam00005	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	597	COG2274	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	60	COG0411	NULL
368	269849624	Disease	p.Gly1321Ser	VAR_013389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013389	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	391	COG4988	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	129	COG1119	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	76	cd03217	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	96	COG1117	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	79	COG1121	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	92	COG4598	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	70	COG3840	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	87	cd03248	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	561	COG1123	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	152	cd03288	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	89	smart00382	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	80	cd03219	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	84	cd03256	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	90	COG4674	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	74	COG4604	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	113_G	cd03220	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	102	cd03259	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	75	cd03247	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	87	cd03266	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	93	cd03267	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	70	cd03269	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	69	cd03298	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	76	cd03268	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	96	cd03264	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	76	COG4619	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	115	cd03229	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	87	cd03290	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	194	cd03228	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	158	cd03250	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	103	cd03293	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	106	cd03294	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	78	cd03261	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	78	cd03251	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	75	cd03295	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	90	cd03260	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	94	cd03253	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	77	COG4555	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	79	COG1101	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	76	cd03252	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	152	cd03249	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	86	cd03224	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	97	cd03216	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	126	cd03263	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	88	cd03262	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	98	cd03255	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	100	cd03230	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	119	cd03223	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	78	cd03292	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	78	cd03246	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	73	cd03218	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	81	cd03369	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	124	COG1120	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	76	cd03289	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	79	cd03245	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	88	cd03244	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	98	COG1126	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	76	cd03254	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	199	cd03215	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	98	cd03226	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	74	cd03235	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	111	cd03225	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	220	cd00267	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	134	cd03214	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	414	COG1122	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	95	cd03213	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	102	cd03234	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	96	COG1124	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	371	COG4172	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	72	cd03265	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	79	COG1137	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	428	COG4987	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	712	COG4178	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	1263	COG1132	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	410	COG4615	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	106	COG1131	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	246	cd03257	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	102	COG1136	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	228	COG0444	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	86	COG0410	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	86	COG4167	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	82	COG4161	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	93	COG1135	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	148	COG4608	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	90	cd03258	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	79	COG2884	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	339	COG5265	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	52	pfam00005	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	615	COG2274	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	107	COG0411	NULL
368	269849624	Disease	p.Arg1339Cys	VAR_013390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013390	rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	409	COG4988	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	139	COG1119	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	86	cd03217	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	104	COG1117	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	87	COG1121	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	100	COG4598	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	78	COG3840	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	95	cd03248	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	569	COG1123	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	160	cd03288	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	97	smart00382	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	90	cd03219	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	92	cd03256	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	100	COG4674	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	82	COG4604	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	118	cd03220	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	110	cd03259	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	83	cd03247	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	94	cd03266	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	102	cd03267	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	89	cd03269	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	77	cd03298	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	84	cd03268	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	104	cd03264	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	84	COG4619	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	123	cd03229	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	97	cd03290	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	202	cd03228	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	166	cd03250	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	111	cd03293	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	115	cd03294	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	86	cd03261	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	86	cd03251	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	83	cd03295	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	98	cd03260	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	102	cd03253	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	87	COG4555	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	87	COG1101	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	84	cd03252	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	161	cd03249	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	94	cd03224	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	105	cd03216	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	134	cd03263	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	98	cd03262	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	106	cd03255	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	108	cd03230	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	127	cd03223	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	86	cd03292	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	86	cd03246	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	84	cd03218	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	89	cd03369	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	132	COG1120	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	84	cd03289	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	87	cd03245	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	96	cd03244	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	106	COG1126	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	84	cd03254	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	207	cd03215	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	106	cd03226	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	82	cd03235	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	119	cd03225	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	228	cd00267	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	142	cd03214	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	422	COG1122	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	103	cd03213	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	110	cd03234	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	104	COG1124	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	379	COG4172	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	80	cd03265	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	89	COG1137	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	436	COG4987	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	720	COG4178	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	1277	COG1132	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	418	COG4615	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	128	COG1131	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	254	cd03257	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	111	COG1136	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	242	COG0444	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	94	COG0410	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	94	COG4167	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	90	COG4161	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	101	COG1135	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	156	COG4608	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	98	cd03258	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	87	COG2884	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	347	COG5265	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	60	pfam00005	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	623	COG2274	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	129	COG0411	NULL
368	269849624	Disease	p.Gln1347His	VAR_013391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013391	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	417	COG4988	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	151	COG1119	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	93	cd03217	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	112	COG1117	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	98	COG1121	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	107	COG4598	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	85	COG3840	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	102	cd03248	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	593	COG1123	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	167	cd03288	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	104	smart00382	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	97	cd03219	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	115	cd03256	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	107	COG4674	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	84	COG4604	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	130	cd03220	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	119	cd03259	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	90	cd03247	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	102	cd03266	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	117	cd03267	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	96	cd03269	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	84	cd03298	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	91	cd03268	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	111	cd03264	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	91	COG4619	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	132	cd03229	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	104	cd03290	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	210	cd03228	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	173	cd03250	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	120	cd03293	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	122	cd03294	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	92	cd03261	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	93	cd03251	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	91	cd03295	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	106	cd03260	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	109	cd03253	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	94	COG4555	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	96	COG1101	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	91	cd03252	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	168	cd03249	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	101	cd03224	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	112	cd03216	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	142	cd03263	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	104_G	cd03262	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	113	cd03255	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	120	cd03230	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	136	cd03223	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	93	cd03292	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	93	cd03246	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	91	cd03218	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	96	cd03369	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	139	COG1120	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	91	cd03289	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	94	cd03245	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	104	cd03244	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	122	COG1126	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	91	cd03254	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	218	cd03215	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	115	cd03226	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	93	cd03235	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	137	cd03225	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	235	cd00267	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	149	cd03214	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	431	COG1122	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	110	cd03213	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	118	cd03234	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	108	COG1124	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	383	COG4172	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	87	cd03265	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	96	COG1137	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	443	COG4987	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	727	COG4178	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	1285	COG1132	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	424_G	COG4615	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	136	COG1131	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	258	cd03257	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	118	COG1136	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	260	COG0444	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	107	COG0410	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	112	COG4167	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	96_G	COG4161	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	113	COG1135	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	705	COG4608	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	105	cd03258	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	93_G	COG2884	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	354	COG5265	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	70	pfam00005	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	630	COG2274	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	136	COG0411	NULL
368	269849624	Disease	p.Gly1354Arg	VAR_013392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013392	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	424	COG4988	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	158	COG1119	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	105	cd03217	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	119	COG1117	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	105	COG1121	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	120	COG4598	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	93	COG3840	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	109	cd03248	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	600	COG1123	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	174	cd03288	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	111	smart00382	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	119	cd03219	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	122	cd03256	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	115	COG4674	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	94	COG4604	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	138	cd03220	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	136	cd03259	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	97	cd03247	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	109_G	cd03266	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	124	cd03267	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	104	cd03269	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	92	cd03298	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	103	cd03268	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	119	cd03264	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	98	COG4619	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	140	cd03229	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	111	cd03290	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	217	cd03228	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	180	cd03250	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	146	cd03293	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	130	cd03294	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	109	cd03261	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	105	cd03251	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	98	cd03295	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	113	cd03260	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	116	cd03253	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	101	COG4555	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	104	COG1101	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	98	cd03252	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	175	cd03249	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	109	cd03224	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	120	cd03216	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	154	cd03263	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	107	cd03262	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	121	cd03255	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	128	cd03230	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	143	cd03223	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	109	cd03292	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	100	cd03246	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	99	cd03218	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	103	cd03369	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	159	COG1120	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	98	cd03289	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	101	cd03245	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	111	cd03244	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	129	COG1126	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	98	cd03254	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	224_G	cd03215	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	126	cd03226	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	104	cd03235	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	144	cd03225	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	242	cd00267	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	173	cd03214	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	443	COG1122	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	128	cd03213	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	131	cd03234	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	118	COG1124	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	400	COG4172	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	94_G	cd03265	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	104	COG1137	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	450	COG4987	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	738	COG4178	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	1294	COG1132	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	425	COG4615	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	144	COG1131	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	272	cd03257	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	126	COG1136	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	279	COG0444	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	115	COG0410	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	119	COG4167	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	102	COG4161	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	120	COG1135	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	712	COG4608	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	119	cd03258	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	106	COG2884	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	361	COG5265	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	105	pfam00005	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	637	COG2274	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	171	COG0411	NULL
368	269849624	Disease	p.Asp1361Asn	VAR_013393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013393	rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	431	COG4988	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	228	COG1119	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	173	cd03217	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	196	COG1117	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	177	COG1121	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	176	COG4598	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	152	COG3840	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	187	cd03248	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	701	COG1123	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	237	cd03288	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	312	smart00382	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	199	cd03219	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	175	cd03256	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	182	COG4674	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	158	COG4604	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	190	cd03220	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	191	cd03259	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	167	cd03247	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	169	cd03266	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	179	cd03267	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	152	cd03269	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	151	cd03298	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	159	cd03268	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	179	cd03264	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	160	COG4619	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	207	cd03229	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	174	cd03290	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	329	cd03228	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	274	cd03250	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	199	cd03293	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	189	cd03294	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	171	cd03261	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	181	cd03251	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	159	cd03295	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	189	cd03260	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	181	cd03253	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	160	COG4555	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	171	COG1101	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	162	cd03252	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	289	cd03249	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	179	cd03224	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	199	cd03216	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	222	cd03263	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	174	cd03262	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	192	cd03255	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	192	cd03230	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	305	cd03223	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	160	cd03292	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	164	cd03246	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	167	cd03218	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	199	cd03369	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	221	COG1120	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	178	cd03289	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	165	cd03245	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	209	cd03244	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	182	COG1126	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	164	cd03254	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	327	cd03215	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	179	cd03226	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	171	cd03235	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	198	cd03225	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	1310	cd00267	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	236	cd03214	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	509	COG1122	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	246	cd03213	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	206	cd03234	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	272	COG1124	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	458	COG4172	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	154	cd03265	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	172	COG1137	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	516	COG4987	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	840	COG4178	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	1409	COG1132	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	486	COG4615	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	222	COG1131	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	432	cd03257	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	198	COG1136	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	485	COG0444	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	182	COG0410	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	172	COG4167	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	165	COG4161	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	190	COG1135	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	767	COG4608	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	174	cd03258	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	161	COG2884	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	425	COG5265	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	277	pfam00005	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	702	COG2274	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	226	COG0411	NULL
368	269849624	Disease	p.Ile1424Thr	VAR_013394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013394	- Pseudoxanthoma elasticum (PXE) [MIM:264800]	SWISS	497	COG4988	NULL
6833	311033501	Disease	p.Gly7Arg	VAR_031349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031349	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	No Domain	N/A	118582255,NP_000343
6833	311033501	Disease	p.Val21Asp	VAR_031350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031350	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	No Domain	N/A	118582255,NP_000343
6833	311033501	Disease	p.Phe27Ser	VAR_031351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031351	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	No Domain	N/A	118582255,NP_000343
6833	311033501	Disease	p.Gly70Glu	VAR_031352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031352	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	No Domain	N/A	118582255,NP_000343
6833	311033501	Disease	p.Arg74Gln	VAR_008639	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008639	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	No Domain	N/A	118582255,NP_000343
6833	311033501	Disease	p.Arg74Trp	VAR_031353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031353	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	No Domain	N/A	118582255,NP_000343
6833	311033501	Disease	p.Val86Ala	VAR_031354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031354	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	No Domain	N/A	118582255,NP_000343
6833	311033501	Disease	p.Gly111Arg	VAR_031355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031355	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	No Domain	N/A	118582255,NP_000343
6833	311033501	Disease	p.Ala116Pro	VAR_031356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031356	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	No Domain	N/A	118582255,NP_000343
6833	311033501	Disease	p.His125Gln	VAR_008640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008640	rs60637558 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	No Domain	N/A	118582255,NP_000343
6833	311033501	Disease	p.Phe132Leu	VAR_029778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029778	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	No Domain	N/A	118582255,NP_000343
6833	311033501	Disease	p.Val187Asp	VAR_008641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008641	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	No Domain	N/A	118582255,NP_000343
6833	311033501	Disease	p.Asn188Ser	VAR_008642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008642	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	No Domain	N/A	118582255,NP_000343
6833	311033501	Disease	p.Leu213Arg	VAR_029779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029779	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	No Domain	N/A	118582255,NP_000343
6833	311033501	Disease	p.Met233Arg	VAR_031357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031357	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	No Domain	N/A	118582255,NP_000343
6833	311033501	Disease	p.Asp310Asn	VAR_031358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031358	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	52	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Asn406Asp	VAR_008644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008644	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	341	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Asn406Asp	VAR_008644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008644	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	158	pfam00664	118582255,NP_000343
6833	311033501	Disease	p.Cys418Arg	VAR_031359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031359	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	389	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Cys418Arg	VAR_031359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031359	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	172	pfam00664	118582255,NP_000343
6833	311033501	Disease	p.Cys435Arg	VAR_029780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029780	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	407	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Cys435Arg	VAR_029780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029780	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	190	pfam00664	118582255,NP_000343
6833	311033501	Disease	p.Arg495Gln	VAR_031360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031360	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	637	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg495Gln	VAR_031360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031360	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	268	pfam00664	118582255,NP_000343
6833	311033501	Disease	p.Glu501Lys	VAR_031361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031361	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	643	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Glu501Lys	VAR_031361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031361	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	278	pfam00664	118582255,NP_000343
6833	311033501	Disease	p.Leu503Pro	VAR_031362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031362	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	645	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Leu503Pro	VAR_031362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031362	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	280	pfam00664	118582255,NP_000343
6833	311033501	Disease	p.Leu508Pro	VAR_031363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031363	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	650	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Leu508Pro	VAR_031363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031363	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	285	pfam00664	118582255,NP_000343
6833	311033501	Disease	p.Pro551Arg	VAR_031364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031364	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	768	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Pro551Arg	VAR_031364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031364	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	332	pfam00664	118582255,NP_000343
6833	311033501	Disease	p.Leu582Val	VAR_029781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029781	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	841	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Leu582Val	VAR_029781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029781	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	371	pfam00664	118582255,NP_000343
6833	311033501	Disease	p.Phe591Leu	VAR_008646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008646	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	866	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg620Cys	VAR_031365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031365	rs58241708 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	978	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	17	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	14	COG4598	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	11	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	7	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	COG1120	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	COG1118	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd03295	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd03263	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03259	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd03301	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	11	cd03233	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd03293	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	COG4133	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd03255	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd03261	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	10	cd03294	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	10	cd03296	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	10	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	16	COG4559	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	20	COG3842	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	49_G	COG4175	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	11	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	11	COG1116	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	10_G	cd03297	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	17	COG1136	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	10	COG4525	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	COG1125	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	10	COG1135	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	18	cd03213	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1116	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	18	COG4181	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	43	cd03291	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	10	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	12	COG1121	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	26	COG4608	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	11	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03265	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03234	118582255,NP_000343
6833	311033501	Disease	p.Phe686Ser	VAR_031366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031366	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	27	COG1127	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	93	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	COG4598	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	65	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	53	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	39	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	44	COG1120	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	54	COG1118	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	cd03295	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	64	cd03263	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	60	cd03259	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	59	cd03301	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	56	cd03233	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	70	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	108	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	60	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	43	cd03293	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	COG4133	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	60	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	49	cd03255	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	cd03261	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	65	cd03294	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	39	cd03296	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	37	COG4559	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	53	COG3842	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	70	COG4175	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	cd03292	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	39	cd03256	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	COG3638	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	39	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	45	COG1116	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	46	cd03297	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	37	COG4604	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	53	COG1136	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	47	COG4525	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	COG1125	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	44	COG1135	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	52	cd03213	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	35	COG3840	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	35	cd03299	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	34	cd03298	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1216	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	48	COG4181	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	73	cd03291	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	39	COG4136	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	39	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	43	COG1121	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	61	COG4608	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	45	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	36	cd03265	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	50	cd03234	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	57	COG1127	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	53	COG1129	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	67	cd03215	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	45	cd03238	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	46	COG0444	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	52	cd03223	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	62	COG3839	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	cd03235	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	40	cd03300	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	36	cd03231	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	13	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Gly716Val	VAR_000100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000100	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	31	cd03271	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	96	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	45	COG4598	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	68	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	56	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	47	COG1120	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	57	COG1118	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	cd03295	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	67	cd03263	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	63	cd03259	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	62	cd03301	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	59	cd03233	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	73	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	111	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	63	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	46	cd03293	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	45	COG4133	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	63	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	52	cd03255	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	cd03261	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	68	cd03294	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	cd03296	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	40	COG4559	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	56	COG3842	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	73	COG4175	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	cd03292	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	cd03256	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	45	COG3638	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	48	COG1116	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	49	cd03297	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	40	COG4604	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	56	COG1136	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	50	COG4525	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	45	COG1125	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	47	COG1135	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	55	cd03213	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	COG3840	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	cd03299	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	37	cd03298	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1219	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	51	COG4181	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	76	cd03291	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	COG4136	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	45	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	46	COG1121	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	64	COG4608	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	51	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	39	cd03265	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	53	cd03234	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	60	COG1127	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	56	COG1129	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	70	cd03215	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	48	cd03238	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	49	COG0444	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	55	cd03223	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	44	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	65	COG3839	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	cd03235	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	43	cd03300	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	39	cd03231	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	17	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Lys719Thr	VAR_031367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031367	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	34	cd03271	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1286	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	166	COG4598	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	211	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	188	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	152	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	211	COG1120	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	174	COG1118	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	149	cd03295	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	212	cd03263	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	157	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	180	cd03259	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	211	cd03301	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	207	cd03233	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	164	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	317	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	264	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	197	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	189	cd03293	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	151	COG4133	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	180	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	182	cd03255	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	154	cd03261	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	179	cd03294	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	264	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	150	cd03296	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	155	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	148	COG4559	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	383	COG3842	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	187	COG4175	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	150	cd03292	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	165	cd03256	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	169	COG3638	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	150	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	167	COG1116	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	162	cd03297	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	148	COG4604	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	188	COG1136	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	152	COG4525	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	155	COG1125	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	180	COG1135	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	236	cd03213	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	142	COG3840	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	142	cd03299	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	141	cd03298	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1397	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	162	COG4181	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	172	cd03291	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	149	COG4136	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	154	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	155	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	5	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	167	COG1121	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	757	COG4608	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	493	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	144	cd03265	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	190	cd03234	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	173	COG1127	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	198	COG1129	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	312	cd03215	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	535	cd03238	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	475	COG0444	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	238	cd03223	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	154	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	428	COG3839	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	161	cd03235	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	147	cd03300	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	141	cd03231	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	261	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Arg841Gly	VAR_031368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031368	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	243	cd03271	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1356	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	212	COG4598	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	260	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	237	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	197	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	258	COG1120	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	221	COG1118	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	202	cd03295	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	282	cd03263	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	202	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	229	cd03259	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	259	cd03301	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	253_G	cd03233	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	212	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	374	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	315	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	244	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	239	cd03293	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	215	COG4133	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	231	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	230	cd03255	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	217	cd03261	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	232	cd03294	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	198	cd03296	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	201	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	203	COG4559	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	432	COG3842	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	234	COG4175	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	196	cd03292	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	216	cd03256	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	216	COG3638	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	199	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	217	COG1116	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	209	cd03297	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	195	COG4604	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	236	COG1136	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	199	COG4525	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	208	COG1125	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	227	COG1135	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	305	cd03213	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	189	COG3840	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	189	cd03299	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	188	cd03298	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1453	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	209	COG4181	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	218	cd03291	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	196	COG4136	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	199	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	201	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	61	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	214	COG1121	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	804	COG4608	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	546	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	190_G	cd03265	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	309	cd03234	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	229	COG1127	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	252	COG1129	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	364	cd03215	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	586	cd03238	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	523	COG0444	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	340	cd03223	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	200	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	483	COG3839	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	208	cd03235	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	194	cd03300	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	187	cd03231	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	647	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Lys889Thr	VAR_031369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031369	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	294	cd03271	118582255,NP_000343
6833	311033501	Disease	p.Ser956Phe	VAR_031370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031370	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	388	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Ser956Phe	VAR_031370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031370	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	331	COG1118	118582255,NP_000343
6833	311033501	Disease	p.Ser956Phe	VAR_031370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031370	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	522	COG3842	118582255,NP_000343
6833	311033501	Disease	p.Ser956Phe	VAR_031370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031370	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	317	COG4175	118582255,NP_000343
6833	311033501	Disease	p.Ser956Phe	VAR_031370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031370	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	277	COG1125	118582255,NP_000343
6833	311033501	Disease	p.Ser956Phe	VAR_031370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031370	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	319	COG1135	118582255,NP_000343
6833	311033501	Disease	p.Ser956Phe	VAR_031370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031370	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	138	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Ser956Phe	VAR_031370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031370	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	883	COG4608	118582255,NP_000343
6833	311033501	Disease	p.Ser956Phe	VAR_031370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031370	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	338	COG1129	118582255,NP_000343
6833	311033501	Disease	p.Ser956Phe	VAR_031370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031370	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	615	COG0444	118582255,NP_000343
6833	311033501	Disease	p.Ser956Phe	VAR_031370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031370	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	595	COG3839	118582255,NP_000343
6833	311033501	Disease	p.His1023Tyr	VAR_029782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029782	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	598	COG3842	118582255,NP_000343
6833	311033501	Disease	p.His1023Tyr	VAR_029782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029782	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	59	COG1132	118582255,NP_000343
6833	311033501	Disease	p.His1023Tyr	VAR_029782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029782	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	12	pfam00664	118582255,NP_000343
6833	311033501	Disease	p.His1023Tyr	VAR_029782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029782	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	13	COG4988	118582255,NP_000343
6833	311033501	Disease	p.His1023Tyr	VAR_029782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029782	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	13	COG4615	118582255,NP_000343
6833	311033501	Disease	p.His1023Tyr	VAR_029782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029782	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	206	COG2274	118582255,NP_000343
6833	311033501	Disease	p.His1023Tyr	VAR_029782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029782	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	464	COG1129	118582255,NP_000343
6833	311033501	Disease	p.His1023Tyr	VAR_029782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029782	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	715	COG3839	118582255,NP_000343
6833	311033501	Disease	p.Thr1130Pro	VAR_031371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031371	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	3	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Thr1130Pro	VAR_031371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031371	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	399	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Thr1130Pro	VAR_031371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031371	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	138	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Thr1130Pro	VAR_031371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031371	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	51	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Thr1130Pro	VAR_031371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031371	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	181	pfam00664	118582255,NP_000343
6833	311033501	Disease	p.Thr1130Pro	VAR_031371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031371	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	110	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Thr1130Pro	VAR_031371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031371	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	118	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Thr1130Pro	VAR_031371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031371	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	300	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Thr1138Met	VAR_008649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008649	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	11	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Thr1138Met	VAR_008649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008649	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	407	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Thr1138Met	VAR_008649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008649	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	146	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Thr1138Met	VAR_008649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008649	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	59	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Thr1138Met	VAR_008649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008649	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	190	pfam00664	118582255,NP_000343
6833	311033501	Disease	p.Thr1138Met	VAR_008649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008649	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	118	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Thr1138Met	VAR_008649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008649	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	126	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Thr1138Met	VAR_008649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008649	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	309	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Leu1147Arg	VAR_031372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031372	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	46	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Leu1147Arg	VAR_031372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031372	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	461	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Leu1147Arg	VAR_031372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031372	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	155	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Leu1147Arg	VAR_031372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031372	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Leu1147Arg	VAR_031372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031372	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	67	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Leu1147Arg	VAR_031372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031372	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	200	pfam00664	118582255,NP_000343
6833	311033501	Disease	p.Leu1147Arg	VAR_031372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031372	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	127	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Leu1147Arg	VAR_031372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031372	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	135	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Leu1147Arg	VAR_031372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031372	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	318	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Arg1182Gln	VAR_029783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029783	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	106	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Arg1182Gln	VAR_029783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029783	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	579	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg1182Gln	VAR_029783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029783	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	191	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Arg1182Gln	VAR_029783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029783	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	81	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Arg1182Gln	VAR_029783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029783	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	102	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Arg1182Gln	VAR_029783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029783	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	241	pfam00664	118582255,NP_000343
6833	311033501	Disease	p.Arg1182Gln	VAR_029783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029783	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	164	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Arg1182Gln	VAR_029783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029783	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	169	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Arg1182Gln	VAR_029783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029783	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	356	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Arg1214Gln	VAR_008650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008650	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	152	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Arg1214Gln	VAR_008650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008650	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	652	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg1214Gln	VAR_008650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008650	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	223	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Arg1214Gln	VAR_008650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008650	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	125	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Arg1214Gln	VAR_008650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008650	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	144	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Arg1214Gln	VAR_008650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008650	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	287	pfam00664	118582255,NP_000343
6833	311033501	Disease	p.Arg1214Gln	VAR_008650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008650	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	194	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Arg1214Gln	VAR_008650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008650	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	204	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Arg1214Gln	VAR_008650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008650	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	69	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Arg1214Gln	VAR_008650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008650	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	384	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Arg1214Trp	VAR_031373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031373	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	152	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Arg1214Trp	VAR_031373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031373	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	652	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg1214Trp	VAR_031373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031373	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	223	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Arg1214Trp	VAR_031373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031373	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	125	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Arg1214Trp	VAR_031373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031373	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	144	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Arg1214Trp	VAR_031373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031373	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	287	pfam00664	118582255,NP_000343
6833	311033501	Disease	p.Arg1214Trp	VAR_031373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031373	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	194	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Arg1214Trp	VAR_031373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031373	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	204	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Arg1214Trp	VAR_031373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031373	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	69	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Arg1214Trp	VAR_031373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031373	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	384	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Asn1295Lys	VAR_031374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031374	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	292	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Asn1295Lys	VAR_031374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031374	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	866	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Asn1295Lys	VAR_031374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031374	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	304	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Asn1295Lys	VAR_031374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031374	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	220	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Asn1295Lys	VAR_031374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031374	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	217	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Asn1295Lys	VAR_031374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031374	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	279	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Asn1295Lys	VAR_031374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031374	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	285	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Asn1295Lys	VAR_031374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031374	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	29	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Asn1295Lys	VAR_031374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031374	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	305	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Asn1295Lys	VAR_031374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031374	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	471	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Lys1336Asn	VAR_031375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031375	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	357_G	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Lys1336Asn	VAR_031375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031375	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8_G	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Lys1336Asn	VAR_031375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031375	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1026	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Lys1336Asn	VAR_031375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031375	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	342	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Lys1336Asn	VAR_031375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031375	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	273	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Lys1336Asn	VAR_031375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031375	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	258	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Lys1336Asn	VAR_031375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031375	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	325	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Lys1336Asn	VAR_031375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031375	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	327	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Lys1336Asn	VAR_031375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031375	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	70	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Lys1336Asn	VAR_031375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031375	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	361	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Lys1336Asn	VAR_031375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031375	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Lys1336Asn	VAR_031375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031375	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	532	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Gly1342Glu	VAR_031376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031376	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	2	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Gly1342Glu	VAR_031376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031376	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	2	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Gly1342Glu	VAR_031376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031376	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	2	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Gly1342Glu	VAR_031376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031376	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	2	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Gly1342Glu	VAR_031376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031376	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	2	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Gly1342Glu	VAR_031376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031376	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	359	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Gly1342Glu	VAR_031376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031376	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	10	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Gly1342Glu	VAR_031376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031376	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1032	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Gly1342Glu	VAR_031376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031376	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	348	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Gly1342Glu	VAR_031376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031376	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	279	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Gly1342Glu	VAR_031376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031376	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	264	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Gly1342Glu	VAR_031376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031376	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	326_G	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Gly1342Glu	VAR_031376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031376	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	331	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Gly1342Glu	VAR_031376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031376	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	76	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Gly1342Glu	VAR_031376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031376	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	5	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Gly1342Glu	VAR_031376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031376	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	368	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Gly1342Glu	VAR_031376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031376	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	48	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Gly1342Glu	VAR_031376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031376	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	538	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Gly1342Glu	VAR_031376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031376	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Gly1342Glu	VAR_031376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031376	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	11	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	366	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	17	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	5	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	5	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	5	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	5	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1067	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	359	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	288	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	271	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	339	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	337_G	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	83	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	12	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	7	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	10	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	7	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	7	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	7	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	461	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	58	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	7	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	10	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	7	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	7	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	6	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	545	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	13	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Leu1349Gln	VAR_031377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031377	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	13	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	12	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	12	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	12	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	14	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	12	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	374	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	20	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	8	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	8	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	8	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	8	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	1070	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	362	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	291	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	274	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	342	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	339	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	86	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	15	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	10	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	11	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	13	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	10	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	10	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	10	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	464	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	61	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	10	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	15	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	10	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	10	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	11_G	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	9	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	548	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	11	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	11	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	11	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	11	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	11	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	16	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Arg1352His	VAR_029784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029784	- Leucine-induced hypoglycemia (LIH) [MIM:240800]	SWISS	16	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	12	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	12	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	12	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	14	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	12	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	374	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	20	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	8	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1070	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	362	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	291	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	274	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	342	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	339	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	86	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	15	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	10	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	11	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	13	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	10	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	10	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	10	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	464	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	61	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	10	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	15	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	10	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	10	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	11_G	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	548	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	11	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	11	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	11	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	11	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	11	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	16	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Arg1352Pro	VAR_008537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008537	rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	16	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	24	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	29	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	27	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	20	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	19	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	386	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	29	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	48	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	32	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	17	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	30	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1168	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	370	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	304	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	281	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	350	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	345	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	94	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	23	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	18	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	17	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	43	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	23	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	32	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	18	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	491	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	67	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	21	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	25	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	18	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	19	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	25	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	16	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	36	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	57	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	16	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	29	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	17	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	20	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	17	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	17	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	49	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	87	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	39	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	21	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	18	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	20	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	17	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	36	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	18	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	18	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	15	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	15	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	557	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	19	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	24	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	21	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	21	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	18	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	22	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Val1360Met	VAR_015007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015007	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	26	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	47	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	45	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	37	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	404	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	47	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	90	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	50	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	35	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	49	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1213	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	388	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	328	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	299	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	368	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	370	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	112	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	36	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	35	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	62	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	50	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	36	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	509	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	85	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	39	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	46	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	37	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	43	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	35	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	54	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	75	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	34	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	47	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	35	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	35	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	35	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	67	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	105	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	57	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	39	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	32	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	57	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	35	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	54	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	36	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	36	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	35	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	33	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	575	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	37	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	39	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	39	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	36	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	40	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Gly1378Arg	VAR_008653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008653	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	44	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	43	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	48	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	46	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	39	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	38	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	405	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	48	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	91	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	51	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	36	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	50	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	1214	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	389	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	329	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	300	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	369	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	371	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	113	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	10	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	42	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	37	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	36	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	63	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	42	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	51	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	37	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	510	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	86	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	40	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	47	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	39	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	38	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	44	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	36	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	55	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	76	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	35	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	48	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	36	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	39	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	36	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	36	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	68	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	106	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	58	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	40	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	33	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	39	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	58	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	36	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	55	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	37	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	37	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	36	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	34	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	576	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	38	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	46	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	40	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	40	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	37	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	41	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Arg1379Cys	VAR_029785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029785	- Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]	SWISS	45	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	45	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	50	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	48	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	40	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	407	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	50	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	93	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	53	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	52	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1216	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	391	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	331	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	302	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	371	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	373	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	115	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	13	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	44	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	39	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	65	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	44	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	53	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	39	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	512	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	88	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	49	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	40	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	46	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	57	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	78	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	37	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	50	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	70	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	108	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	60	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	35	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	60	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	57	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	39	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	39	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	36	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	578	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	40	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	48	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	39	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	43	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Gly1381Ser	VAR_008654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008654	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	47	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	51	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	53	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	51	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	44	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	43	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	410	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	53	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	96	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	56	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	55	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1219	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	394	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	334	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	305	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	374	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	376	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	118	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	17	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	47	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	68	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	47	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	56	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	515	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	91	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	45	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	52	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	44	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	43	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	49	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	60	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	81	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	40	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	53	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	44	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	73	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	111	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	63	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	45	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	38	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	44	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	63	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	60	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	39	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	581	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	43	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	51	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	45	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	45	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	46	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Lys1384Gln	VAR_031378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031378	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	50	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	53	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	55	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	53	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	46	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	45	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	412	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	55	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	98	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	58	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	43	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	57	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1223	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	396	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	336	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	307	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	2	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	376	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	378	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	120	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	19	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	49	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	44	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	43	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	70	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	49	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	58	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	44	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	517	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	93	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	47	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	54	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	45_G	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	45	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	51	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	43	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	62	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	83	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	42	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	54_G	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	43	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	46	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	43	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	43	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	75	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	113	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	65	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	47	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	40	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	46	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	65	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	43	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	62	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	44	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	44	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	43	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	41	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	583	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	45	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	53	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	47	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	47	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	44	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	49	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Ser1386Phe	VAR_031379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031379	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	52	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	60	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	62	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	61	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	49	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	52	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	419	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	62	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	105	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	65	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	50	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	64	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1230	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	403	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	343	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	314	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	9	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	383	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	385	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	127	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	27	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	56	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	51	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	52	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	77	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	52	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	65	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	51	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	524	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	101	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	56	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	61	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	49	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	52	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	58	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	50	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	69	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	90	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	49	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	58	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	50	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	53	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	50	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	50	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	82	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	120	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	72	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	54	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	46	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	53	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	72	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	50	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	69	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	51	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	51	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	50	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	45	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	590	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	52	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	60	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	54	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	54	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	51	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	55	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Arg1393His	VAR_008655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008655	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	59	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	227	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	70	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	69	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	60	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	62	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	426	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	69	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	151	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	78	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	58	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	74	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1239	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	410	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	350	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	321	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	22	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	391	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	392	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	134	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	64	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	63	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	58	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	59	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	87	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	63	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	86	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	58	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	532	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	108	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	61	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	68	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	60	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	65	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	70	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	62	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	77	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	97	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	56	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	69	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	57	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	60	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	59	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	57	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	107	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	131	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	84	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	65	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	53	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	60	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	79	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	57	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	76	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	87	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	58	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	57	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	56	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	597	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	58	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	67	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	61	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	64	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	58	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	62	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Gly1400Arg	VAR_031380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031380	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	72	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	414	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	96	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	103	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	107	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	86	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	444	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	87	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	220	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	111	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	98	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	134	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1263	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	428	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	371	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	339	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	52	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	409	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	410	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	152	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	89	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	81	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	79	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	82	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	106	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	90	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	246	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	76	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	561	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	129	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	79	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	86	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	77	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	90	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	97	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	86	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	96	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	116	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	76	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	87	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	75	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	78	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	76	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	87	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	194	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	158	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	115	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	85	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	72	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	78	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	100	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	88	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	94	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	152	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	76	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	80	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	73	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	615	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	76	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	98	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	79	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	88	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	76	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	79	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Arg1418His	VAR_031381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031381	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	96	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	416	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	98	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	105	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	109	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	88	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	446	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	89	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	222	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	113	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	100	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	136	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1265	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	430	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	373	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	341	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	54	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	411	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	412	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	154	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	91	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	83	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	81	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	84	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	108	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	92	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	248	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	78	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	563	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	131	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	81	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	88	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	79	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	92	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	99	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	88	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	98	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	118	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	78	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	88	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	77	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	80	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	78	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	89	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	196	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	160	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	117	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	87	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	74	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	80	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	102	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	92	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	96	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	154	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	78	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	82	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	75	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	617	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	78	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	100	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	81	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	90	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	78	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	81	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Arg1420Cys	VAR_008539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008539	rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	98	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	420	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	102	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	109	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	113	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	92	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	450	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	93	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	226	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	117	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	104	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	140	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	1270	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	434	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	377	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	345	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	58	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	415	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	416	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	158	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	95	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	87	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	85	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	88	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	126	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	96	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	252	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	82	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	567	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	135	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	85	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	92	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	83	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	96	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	103	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	92	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	102	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	123	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	82	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	90_G	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	81	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	84	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	82	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	93	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	200	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	164	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	121	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	91	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	78	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	84	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	106	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	96	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	100	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	159	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	82	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	86	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	80	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	621	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	82	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	104	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	85	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	94	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	82	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	87	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Ile1424Val	VAR_029787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029787	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	102	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	434	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	108_G	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	124	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	137	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	111	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	467	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	105	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	238	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	125_G	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	118	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	152	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1290	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	446	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	384_G	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	357	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	101	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	427	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	426_G	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	170	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	107	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	99	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	98	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	101	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	134_G	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	109	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	258_G	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	94	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	582	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	140	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	90_G	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	115	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	97	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	109	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	120	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	105	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	115	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	132_G	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	89_G	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	102	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	93	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	96	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	97	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	107	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	213	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	176	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	136	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	131	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	90	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	96	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	124	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	113	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	112	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	171	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	94	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	101	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	95	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	633	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	94	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	126	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	97	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	107	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	94	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	100	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Arg1436Gln	VAR_015008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015008	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	123	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	458	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	120	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	178	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	181	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	130	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	477	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	133	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	252	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	141	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	140	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	174	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1329	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	462	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	395	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	372	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	199	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	443	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	439	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	184	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	216	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	113	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	119	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	114	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	139	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	129	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	270	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	112	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	599	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	168	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	99	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	129	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	106	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	123	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	134	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	120	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	137	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	147	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	94	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	105	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	108	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	128	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	108	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	121	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	227	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	194	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	150	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	145	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	102	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	111	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	138	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	125_G	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	128	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	231	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	109	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	117	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	113	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	649	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	108	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	140	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	112	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	135	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	108	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	114	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Leu1450Pro	VAR_031382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031382	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	149	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	465	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	216	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	185	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	187_G	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	137	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	484	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	140	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1246	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	148	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	147	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	181	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1336	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	469	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	402	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	379	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	206	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	450	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	444_G	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	191	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	223	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	120	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	126	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	121	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	147	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	135_G	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	277	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	119	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	615	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	180	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	106	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	136	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	116	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	143	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	149	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	132	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	144	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	154	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	101	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	125	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	115	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	135	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	115	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	128	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	234	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	201	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	157	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	152	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	109	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	118	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	145	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	131	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	135	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	238	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	116	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	154	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	120	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	656	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	132	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	146	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	119	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	142	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	118	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	125	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Ala1457Thr	VAR_031383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031383	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	156	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	481_G	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	243	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	199	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	194	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	150	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	498	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	155	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1260	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	166	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	157_G	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	193	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1372	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	483	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	425	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	393	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	240	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	464	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	458	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	205	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	237	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	167	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	139_G	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	133	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	174	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	142	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	400	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	128	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	673	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	195	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	139	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	144	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	128	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	157	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	163	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	146	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	157_G	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	166_G	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	118	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	137	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	135	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	149	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	130	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	142	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	291	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	242	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	175	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	241	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	122	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	132	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	158	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	141	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	149	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	254	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	130	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	167	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	132	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	670	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	146	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	160_G	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	133	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	175	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	132	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	137	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Asp1471His	VAR_031384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031384	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	164	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	481_G	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	243	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	199	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	194	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	150	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	498	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	155	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1260	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	166	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	157_G	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	193	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1372	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	483	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	425	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	393	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	240	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	464	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	458	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	205	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	237	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	167	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	139_G	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	133	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	174	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	142	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	400	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	128	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	673	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	195	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	139	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	144	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	128	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	157	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	163	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	146	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	157_G	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	166_G	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	118	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	137	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	135	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	149	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	130	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	142	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	291	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	242	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	175	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	241	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	122	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	132	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	158	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	141	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	149	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	254	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	130	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	167	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	132	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	670	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	146	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	160_G	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	133	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	175	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	132	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	137	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Asp1471Asn	VAR_031385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031385	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	164	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	481_G	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	248_G	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	207	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	201	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	157	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	505	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	162	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1267	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	173	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	157_G	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	203	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1382	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	490	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	435_G	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	400	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	247	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	471	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	463_G	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	212	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	244	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	174	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	139_G	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	140	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	191	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	149	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	407	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	135	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	678_G	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	203	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	146	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	147_G	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	135	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	164	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	168	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	153	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	157_G	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	166_G	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	125	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	144	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	142	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	156	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	137	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	149	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	298	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	249	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	182	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	248	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	129	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	139	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	165	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	149	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	156	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	258	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	137	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	174	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	139	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	677	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	153	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	160_G	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	140	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	182	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	139	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	144	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Gly1478Arg	VAR_008656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008656	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	171	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	486	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	255	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	215	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	209	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	165	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	513	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	170	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1279	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	181	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	162	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	211	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1390	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	498	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	441	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	408	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	255	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	479	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	469	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	220	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	252	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	182	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	144	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	148	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	199	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	157	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	415	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	143	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	684	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	211	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	154	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	155	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	143	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	172	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	176	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	161	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	162	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	175	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	142	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	152	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	150	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	164	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	145	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	157	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	310	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	257	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	190	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	256	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	137	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	147	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	173	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	157	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	164	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	272	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	145	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	182	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	147	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	685	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	161	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	165	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	148	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	190	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	147	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	152	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Arg1486Lys	VAR_031386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031386	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	179	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	493	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	262	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	222	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	216	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	172	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	520	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	177	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1286	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	188	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	169	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	218	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1397	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	505	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	448	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	415	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	264	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	486	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	476	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	227	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	259	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	189	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	151	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	155	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	211	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	164	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	422	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	150	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	691	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	218	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	161	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	162	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	150	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	179	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	183	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	168	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	169	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	182	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	149	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	159	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	157	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	171	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	163	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	164	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	317	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	264	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	197	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	263	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	144	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	154	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	180	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	164	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	171	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	279	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	152	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	189	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	154	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	692	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	168	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	172	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	155	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	197	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	154	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	159	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Gln	VAR_031387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031387	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	186	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	493	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	262	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	222	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	216	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	172	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	520	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	177	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1286	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	188	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	169	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	218	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1397	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	505	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	448	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	415	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	264	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	486	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	476	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	227	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	259	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	189	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	151	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	155	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	211	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	164	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	422	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	150	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	691	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	218	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	161	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	162	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	150	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	179	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	183	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	168	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	169	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	182	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	149	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	159	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	157	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	171	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	163	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	164	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	317	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	264	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	197	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	263	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	144	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	154	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	180	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	164	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	171	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	279	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	152	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	189	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	154	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	692	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	168	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	172	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	155	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	197	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	154	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	159	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Arg1493Trp	VAR_008540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008540	rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	186	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	512	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	275	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	235	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	229	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	185	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	533	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	190	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1313	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	201	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	182	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	239	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1412	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	519	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	461	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	428	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	280	pfam00005	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	500	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	489	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	240	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	315	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	202	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	164	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	168	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	225	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	177	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	435	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	163	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	704	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	231	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	174	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	175	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	163	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	192	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	202	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	182	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	182	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	193	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	162	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	172	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	170	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	184	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	176	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	177	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	332	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	277	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	210	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	277	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	164	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	167	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	195	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	177	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	184	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	292	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	165	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	202	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	170	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	705	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	181	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	185	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	168	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	212	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	167	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	175	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Glu1506Lys	VAR_015009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015009	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	199	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	551	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	314	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	286	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	269	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	225	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	571	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	274	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1361	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	242	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	220	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	279	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1459	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	558	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	500	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	467	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	538	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	528	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	277	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	651	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	239	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	213	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	206	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	265	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	216	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	475	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	205	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	743	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	271	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	213	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	213	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	201	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	234	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	241	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	222	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	220	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	232	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	197	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	213	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	207	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	221	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	230	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	217	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	379	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	320	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	249	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	317	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	203	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	205	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	236	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	216	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	228	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	333	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	202	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	242	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	209	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	743	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	218	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	226_G	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	205	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	250	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	204	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	214	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Leu1543Pro	VAR_015010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015010	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	240_G	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	559	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	322	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	295	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	277	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	233	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	578	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	281	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1378	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	251	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	228	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	286	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1467	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	565	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	508	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	474	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	545	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	535	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	284	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	658	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	246	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	220	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	214	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	282	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	224	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	488	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	212	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	751	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	279	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	221	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	222	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	209	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	242	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	250	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	230	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	228	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	240	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	209	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	221	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	214	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	228	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	241	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	224	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	388	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	332	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	257	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	326	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	210	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	212	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	247	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	224	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	235	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	341	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	209	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	251	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	217	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	750	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	225	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	232	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	213	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	257	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	211	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	222	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Val1550Asp	VAR_031388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031388	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	246	COG1117	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	560	COG1122	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	323	COG1124	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	296	COG0396	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	278	COG0411	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	234	COG0410	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	579	COG4618	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	282	cd03248	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1379	cd00267	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	252	cd03225	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	229	cd03226	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	287	cd03214	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	1468	COG1132	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	566	COG4987	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	509	COG4172	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	475	COG5265	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	546	COG4988	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	536	COG4615	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	285	cd03288	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	659	smart00382	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	247	cd03369	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	221	COG2884	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	215	COG4161	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	283	COG1131	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	225	cd03258	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	489	cd03257	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	213	COG4619	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	752	COG1123	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	280	COG1119	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	222	COG1101	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	223	COG4167	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	210	COG4555	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	243	cd03260	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	251	cd03216	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	231	cd03224	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	229	cd03264	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	241	cd03220	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	210	cd03268	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	222	cd03266	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	215	cd03247	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	229	cd03251	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	242	cd03217	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	225	cd03290	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	389	cd03228	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	333	cd03250	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	258	cd03229	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	327	cd03221	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	211	COG4138	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	213	cd03246	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	248	cd03230	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	225	cd03262	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	236	cd03253	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	342	cd03249	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	210	cd03252	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	252	cd03219	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	218	cd03218	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	751	COG2274	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	226	cd03289	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	233	COG1126	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	214	cd03245	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	258	cd03244	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	212	cd03254	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	223	COG1137	118582255,NP_000343
6833	311033501	Disease	p.Leu1551Val	VAR_031389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031389	- Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]	SWISS	247	COG1117	118582255,NP_000343
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	276	cd03248	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	279	cd03288	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	216	cd03245	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	252	cd03244	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	206	cd03254	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	220	cd03289	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	243	cd03220	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	235	cd03217	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	239_G	cd03260	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	207	cd03246	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	242	cd03230	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	230	cd03253	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	204	cd03252	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	336	cd03249	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	219	cd03290	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	327	cd03250	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	215	COG2884	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	383	cd03228	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	252	cd03229	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	220	cd03218	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	218	cd03266	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	204	COG4555	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	212_G	cd03292	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	223	cd03264	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	209	cd03247	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	223	cd03251	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	246	cd03225	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	1363	cd00267	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	219	cd03258	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	269	COG1131	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	483	cd03257	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	624	COG0444	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	505_G	COG4172	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	653	smart00382	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	530	COG4615	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	560	COG4987	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	540	COG4988	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	745	COG2274	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	298	COG0396	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	554	COG1122	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	225	COG1137	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	241	cd03369	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	1462	COG1132	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	469	COG5265	110832835,NP_005682
10060	215273925	Disease	p.Ala1513Thr	VAR_018483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018483	- Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]	SWISS	573	COG4618	110832835,NP_005682
215	67476960	Disease	p.Cys88Trp	VAR_023004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023004	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	25	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Cys88Trp	VAR_023004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023004	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	36	COG1132	7262393,NP_000024
215	67476960	Disease	p.Cys88Trp	VAR_023004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023004	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	94	COG4178	7262393,NP_000024
215	67476960	Disease	p.Glu90Lys	VAR_009349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009349	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	27	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Glu90Lys	VAR_009349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009349	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	38	COG1132	7262393,NP_000024
215	67476960	Disease	p.Glu90Lys	VAR_009349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009349	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ser98Leu	VAR_000024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000024	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	35	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Ser98Leu	VAR_000024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000024	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ser98Leu	VAR_000024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000024	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	181	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ala99Asp	VAR_013341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013341	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	36	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Ala99Asp	VAR_013341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013341	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ala99Asp	VAR_013341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013341	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	196	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ser103Arg	VAR_009350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009350	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	40	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Ser103Arg	VAR_009350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009350	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	54	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ser103Arg	VAR_009350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009350	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	200	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg104Cys	VAR_000025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000025	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	41	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Arg104Cys	VAR_000025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000025	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	55	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg104Cys	VAR_000025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000025	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg104His	VAR_000026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000026	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	41	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Arg104His	VAR_000026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000026	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	55	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg104His	VAR_000026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000026	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	COG4178	7262393,NP_000024
215	67476960	Disease	p.Thr105Ile	VAR_000027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000027	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	42	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Thr105Ile	VAR_000027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000027	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	56	COG1132	7262393,NP_000024
215	67476960	Disease	p.Thr105Ile	VAR_000027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000027	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	COG4178	7262393,NP_000024
215	67476960	Disease	p.Thr105Pro	VAR_009351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009351	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	42	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Thr105Pro	VAR_009351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009351	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	56	COG1132	7262393,NP_000024
215	67476960	Disease	p.Thr105Pro	VAR_009351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009351	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	COG4178	7262393,NP_000024
215	67476960	Disease	p.Leu107Pro	VAR_000028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000028	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Leu107Pro	VAR_000028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000028	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	58	COG1132	7262393,NP_000024
215	67476960	Disease	p.Leu107Pro	VAR_000028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000028	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	213	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ser108Leu	VAR_009352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	45	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Ser108Leu	VAR_009352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	59	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ser108Leu	VAR_009352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	214	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ser108Trp	VAR_000029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000029	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	45	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Ser108Trp	VAR_000029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000029	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	59	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ser108Trp	VAR_000029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000029	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	214	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg113Cys	VAR_009353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Arg113Cys	VAR_009353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg113Cys	VAR_009353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	219	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg113Pro	VAR_013342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013342	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Arg113Pro	VAR_013342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013342	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg113Pro	VAR_013342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013342	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	219	COG4178	7262393,NP_000024
215	67476960	Disease	p.Gly116Arg	VAR_000030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000030	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	53	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Gly116Arg	VAR_000030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000030	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	105	COG1132	7262393,NP_000024
215	67476960	Disease	p.Gly116Arg	VAR_000030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000030	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	222	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ala141Thr	VAR_000033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000033	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	93	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Ala141Thr	VAR_000033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000033	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	280	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ala141Thr	VAR_000033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000033	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	247	COG4178	7262393,NP_000024
215	67476960	Disease	p.Pro143Ser	VAR_009354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Pro143Ser	VAR_009354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	286	COG1132	7262393,NP_000024
215	67476960	Disease	p.Pro143Ser	VAR_009354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	249	COG4178	7262393,NP_000024
215	67476960	Disease	p.Asn148Ser	VAR_000034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000034	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	100	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Asn148Ser	VAR_000034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000034	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	291	COG1132	7262393,NP_000024
215	67476960	Disease	p.Asn148Ser	VAR_000034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000034	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	254	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ser149Asn	VAR_000035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000035	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	101	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Ser149Asn	VAR_000035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000035	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	292	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ser149Asn	VAR_000035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000035	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	255	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg152Cys	VAR_000036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000036	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Arg152Cys	VAR_000036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000036	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	300	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg152Cys	VAR_000036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000036	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	258	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg152Leu	VAR_009355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Arg152Leu	VAR_009355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	300	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg152Leu	VAR_009355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	258	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg152Pro	VAR_000037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000037	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Arg152Pro	VAR_000037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000037	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	300	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg152Pro	VAR_000037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000037	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	258	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg152Ser	VAR_009356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Arg152Ser	VAR_009356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	300	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg152Ser	VAR_009356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	258	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ser161Pro	VAR_009357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	113	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Ser161Pro	VAR_009357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	314	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ser161Pro	VAR_009357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	267	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg163His	VAR_000038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000038	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	115	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Arg163His	VAR_000038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000038	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	316	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg163His	VAR_000038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000038	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	269	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg163Pro	VAR_009358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	115	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Arg163Pro	VAR_009358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	316	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg163Pro	VAR_009358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	269	COG4178	7262393,NP_000024
215	67476960	Disease	p.Tyr174Cys	VAR_009359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	126	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Tyr174Cys	VAR_009359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	327	COG1132	7262393,NP_000024
215	67476960	Disease	p.Tyr174Cys	VAR_009359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	280	COG4178	7262393,NP_000024
215	67476960	Disease	p.Tyr174Asp	VAR_000039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000039	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	126	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Tyr174Asp	VAR_000039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000039	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	327	COG1132	7262393,NP_000024
215	67476960	Disease	p.Tyr174Asp	VAR_000039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000039	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	280	COG4178	7262393,NP_000024
215	67476960	Disease	p.Tyr174Ser	VAR_000040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000040	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	126	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Tyr174Ser	VAR_000040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000040	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	327	COG1132	7262393,NP_000024
215	67476960	Disease	p.Tyr174Ser	VAR_000040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000040	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	280	COG4178	7262393,NP_000024
215	67476960	Disease	p.Gln178Glu	VAR_000041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000041	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	130	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Gln178Glu	VAR_000041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000041	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	344	COG1132	7262393,NP_000024
215	67476960	Disease	p.Gln178Glu	VAR_000041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000041	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	284	COG4178	7262393,NP_000024
215	67476960	Disease	p.Tyr181Cys	VAR_000042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000042	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	134	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Tyr181Cys	VAR_000042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000042	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	347	COG1132	7262393,NP_000024
215	67476960	Disease	p.Tyr181Cys	VAR_000042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000042	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	288	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg182Pro	VAR_000043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000043	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	135	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Arg182Pro	VAR_000043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000043	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	348	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg182Pro	VAR_000043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000043	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	289	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg189Trp	VAR_009360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	146	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Arg189Trp	VAR_009360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	391	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg189Trp	VAR_009360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	302	COG4178	7262393,NP_000024
215	67476960	Disease	p.Leu190Pro	VAR_009361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009361	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	147	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Leu190Pro	VAR_009361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009361	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	392	COG1132	7262393,NP_000024
215	67476960	Disease	p.Leu190Pro	VAR_009361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009361	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	303	COG4178	7262393,NP_000024
215	67476960	Disease	p.Asp194His	VAR_000044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000044	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Asp194His	VAR_000044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000044	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	396	COG1132	7262393,NP_000024
215	67476960	Disease	p.Asp194His	VAR_000044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000044	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	307	COG4178	7262393,NP_000024
215	67476960	Disease	p.Thr198Lys	VAR_009362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009362	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	155	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Thr198Lys	VAR_009362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009362	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	400	COG1132	7262393,NP_000024
215	67476960	Disease	p.Thr198Lys	VAR_009362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009362	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	311	COG4178	7262393,NP_000024
215	67476960	Disease	p.Asp200Asn	VAR_009363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009363	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	157	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Asp200Asn	VAR_009363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009363	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	402	COG1132	7262393,NP_000024
215	67476960	Disease	p.Asp200Asn	VAR_009363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009363	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	313	COG4178	7262393,NP_000024
215	67476960	Disease	p.Asp200Val	VAR_000045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000045	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	157	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Asp200Val	VAR_000045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000045	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	402	COG1132	7262393,NP_000024
215	67476960	Disease	p.Asp200Val	VAR_000045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000045	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	313	COG4178	7262393,NP_000024
215	67476960	Disease	p.Leu211Pro	VAR_000046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000046	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Leu211Pro	VAR_000046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000046	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	434	COG1132	7262393,NP_000024
215	67476960	Disease	p.Leu211Pro	VAR_000046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000046	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	11	COG4988	7262393,NP_000024
215	67476960	Disease	p.Leu211Pro	VAR_000046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000046	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	336	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ser213Cys	VAR_009364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009364	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	182	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Ser213Cys	VAR_009364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009364	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	436	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ser213Cys	VAR_009364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009364	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	13	COG4988	7262393,NP_000024
215	67476960	Disease	p.Ser213Cys	VAR_009364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009364	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	338	COG4178	7262393,NP_000024
215	67476960	Disease	p.Asn214Asp	VAR_009365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009365	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	183	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Asn214Asp	VAR_009365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009365	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	437	COG1132	7262393,NP_000024
215	67476960	Disease	p.Asn214Asp	VAR_009365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009365	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	14	COG4988	7262393,NP_000024
215	67476960	Disease	p.Asn214Asp	VAR_009365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009365	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	339	COG4178	7262393,NP_000024
215	67476960	Disease	p.Lys217Glu	VAR_013344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013344	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	186	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Lys217Glu	VAR_013344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013344	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	440	COG1132	7262393,NP_000024
215	67476960	Disease	p.Lys217Glu	VAR_013344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013344	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	16_G	COG4988	7262393,NP_000024
215	67476960	Disease	p.Lys217Glu	VAR_013344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013344	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	342	COG4178	7262393,NP_000024
215	67476960	Disease	p.Pro218Thr	VAR_009366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009366	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	187	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Pro218Thr	VAR_009366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009366	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	441	COG1132	7262393,NP_000024
215	67476960	Disease	p.Pro218Thr	VAR_009366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009366	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	16_G	COG4988	7262393,NP_000024
215	67476960	Disease	p.Pro218Thr	VAR_009366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009366	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	343	COG4178	7262393,NP_000024
215	67476960	Disease	p.Leu220Pro	VAR_000047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000047	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Leu220Pro	VAR_000047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000047	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	443	COG1132	7262393,NP_000024
215	67476960	Disease	p.Leu220Pro	VAR_000047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000047	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	18	COG4988	7262393,NP_000024
215	67476960	Disease	p.Leu220Pro	VAR_000047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000047	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	345	COG4178	7262393,NP_000024
215	67476960	Disease	p.Asp221Gly	VAR_000048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000048	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	190	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Asp221Gly	VAR_000048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000048	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	444	COG1132	7262393,NP_000024
215	67476960	Disease	p.Asp221Gly	VAR_000048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000048	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	19	COG4988	7262393,NP_000024
215	67476960	Disease	p.Asp221Gly	VAR_000048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000048	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	346	COG4178	7262393,NP_000024
215	67476960	Disease	p.Val224Glu	VAR_013345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013345	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	193	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Val224Glu	VAR_013345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013345	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	447	COG1132	7262393,NP_000024
215	67476960	Disease	p.Val224Glu	VAR_013345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013345	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	22	COG4988	7262393,NP_000024
215	67476960	Disease	p.Val224Glu	VAR_013345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013345	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	349	COG4178	7262393,NP_000024
215	67476960	Disease	p.Leu229Pro	VAR_009367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009367	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	198	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Leu229Pro	VAR_009367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009367	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	463	COG1132	7262393,NP_000024
215	67476960	Disease	p.Leu229Pro	VAR_009367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009367	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	27	COG4988	7262393,NP_000024
215	67476960	Disease	p.Leu229Pro	VAR_009367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009367	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	354	COG4178	7262393,NP_000024
215	67476960	Disease	p.Thr254Met	VAR_000049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000049	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	235	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Thr254Met	VAR_000049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000049	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	570	COG1132	7262393,NP_000024
215	67476960	Disease	p.Thr254Met	VAR_000049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000049	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	53	COG4988	7262393,NP_000024
215	67476960	Disease	p.Thr254Met	VAR_000049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000049	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	393	COG4178	7262393,NP_000024
215	67476960	Disease	p.Thr254Pro	VAR_000050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000050	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	235	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Thr254Pro	VAR_000050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000050	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	570	COG1132	7262393,NP_000024
215	67476960	Disease	p.Thr254Pro	VAR_000050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000050	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	53	COG4988	7262393,NP_000024
215	67476960	Disease	p.Thr254Pro	VAR_000050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000050	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	393	COG4178	7262393,NP_000024
215	67476960	Disease	p.Pro263Leu	VAR_000051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000051	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	245	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Pro263Leu	VAR_000051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000051	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	579	COG1132	7262393,NP_000024
215	67476960	Disease	p.Pro263Leu	VAR_000051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000051	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	10	COG4618	7262393,NP_000024
215	67476960	Disease	p.Pro263Leu	VAR_000051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000051	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	62	COG4988	7262393,NP_000024
215	67476960	Disease	p.Pro263Leu	VAR_000051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000051	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	403	COG4178	7262393,NP_000024
215	67476960	Disease	p.Gly266Arg	VAR_000052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000052	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	248	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Gly266Arg	VAR_000052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000052	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	601	COG1132	7262393,NP_000024
215	67476960	Disease	p.Gly266Arg	VAR_000052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000052	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	13	COG4618	7262393,NP_000024
215	67476960	Disease	p.Gly266Arg	VAR_000052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000052	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	65	COG4988	7262393,NP_000024
215	67476960	Disease	p.Gly266Arg	VAR_000052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000052	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	406	COG4178	7262393,NP_000024
215	67476960	Disease	p.Glu271Lys	VAR_009368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009368	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	253	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Glu271Lys	VAR_009368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009368	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	606	COG1132	7262393,NP_000024
215	67476960	Disease	p.Glu271Lys	VAR_009368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009368	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	18	COG4618	7262393,NP_000024
215	67476960	Disease	p.Glu271Lys	VAR_009368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009368	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	70	COG4988	7262393,NP_000024
215	67476960	Disease	p.Glu271Lys	VAR_009368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009368	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	411	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg274Trp	VAR_013346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013346	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	256	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Arg274Trp	VAR_013346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013346	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	609	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg274Trp	VAR_013346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013346	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	21	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg274Trp	VAR_013346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013346	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	73	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg274Trp	VAR_013346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013346	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	414	COG4178	7262393,NP_000024
215	67476960	Disease	p.Lys276Glu	VAR_000053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000053	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	258	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Lys276Glu	VAR_000053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000053	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	611	COG1132	7262393,NP_000024
215	67476960	Disease	p.Lys276Glu	VAR_000053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000053	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	23	COG4618	7262393,NP_000024
215	67476960	Disease	p.Lys276Glu	VAR_000053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000053	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	75	COG4988	7262393,NP_000024
215	67476960	Disease	p.Lys276Glu	VAR_000053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000053	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	416	COG4178	7262393,NP_000024
215	67476960	Disease	p.Gly277Arg	VAR_000054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000054	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	259	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Gly277Arg	VAR_000054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000054	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	635	COG1132	7262393,NP_000024
215	67476960	Disease	p.Gly277Arg	VAR_000054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000054	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	63	COG4618	7262393,NP_000024
215	67476960	Disease	p.Gly277Arg	VAR_000054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000054	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	75_G	COG4988	7262393,NP_000024
215	67476960	Disease	p.Gly277Arg	VAR_000054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000054	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	417	COG4178	7262393,NP_000024
215	67476960	Disease	p.Gly277Trp	VAR_000056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000056	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	259	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Gly277Trp	VAR_000056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000056	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	635	COG1132	7262393,NP_000024
215	67476960	Disease	p.Gly277Trp	VAR_000056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000056	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	63	COG4618	7262393,NP_000024
215	67476960	Disease	p.Gly277Trp	VAR_000056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000056	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	75_G	COG4988	7262393,NP_000024
215	67476960	Disease	p.Gly277Trp	VAR_000056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000056	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	417	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg280Cys	VAR_013347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013347	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	262	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Arg280Cys	VAR_013347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013347	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	638	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg280Cys	VAR_013347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013347	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	65_G	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg280Cys	VAR_013347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013347	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	77	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg280Cys	VAR_013347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013347	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	420	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg285Pro	VAR_009369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009369	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	267	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Arg285Pro	VAR_009369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009369	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	643	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg285Pro	VAR_009369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009369	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	73	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg285Pro	VAR_009369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009369	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	83	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg285Pro	VAR_009369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009369	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	425	COG4178	7262393,NP_000024
215	67476960	Disease	p.Glu291Asp	VAR_000057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000057	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	3	COG1123	7262393,NP_000024
215	67476960	Disease	p.Glu291Asp	VAR_000057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000057	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	273	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Glu291Asp	VAR_000057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000057	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	649	COG1132	7262393,NP_000024
215	67476960	Disease	p.Glu291Asp	VAR_000057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000057	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	80	COG4618	7262393,NP_000024
215	67476960	Disease	p.Glu291Asp	VAR_000057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000057	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	90	COG4988	7262393,NP_000024
215	67476960	Disease	p.Glu291Asp	VAR_000057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000057	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	431	COG4178	7262393,NP_000024
215	67476960	Disease	p.Glu291Lys	VAR_000058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000058	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	3	COG1123	7262393,NP_000024
215	67476960	Disease	p.Glu291Lys	VAR_000058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000058	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	273	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Glu291Lys	VAR_000058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000058	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	649	COG1132	7262393,NP_000024
215	67476960	Disease	p.Glu291Lys	VAR_000058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000058	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	80	COG4618	7262393,NP_000024
215	67476960	Disease	p.Glu291Lys	VAR_000058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000058	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	90	COG4988	7262393,NP_000024
215	67476960	Disease	p.Glu291Lys	VAR_000058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000058	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	431	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ala294Thr	VAR_000060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000060	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	21	COG1123	7262393,NP_000024
215	67476960	Disease	p.Ala294Thr	VAR_000060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000060	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	276	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Ala294Thr	VAR_000060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000060	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	652	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ala294Thr	VAR_000060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000060	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95	COG4618	7262393,NP_000024
215	67476960	Disease	p.Ala294Thr	VAR_000060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000060	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	93	COG4988	7262393,NP_000024
215	67476960	Disease	p.Ala294Thr	VAR_000060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000060	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	434	COG4178	7262393,NP_000024
215	67476960	Disease	p.Tyr296Cys	VAR_009370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009370	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	23	COG1123	7262393,NP_000024
215	67476960	Disease	p.Tyr296Cys	VAR_009370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009370	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	278	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Tyr296Cys	VAR_009370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009370	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	654	COG1132	7262393,NP_000024
215	67476960	Disease	p.Tyr296Cys	VAR_009370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009370	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	97	COG4618	7262393,NP_000024
215	67476960	Disease	p.Tyr296Cys	VAR_009370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009370	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95	COG4988	7262393,NP_000024
215	67476960	Disease	p.Tyr296Cys	VAR_009370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009370	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	436	COG4178	7262393,NP_000024
215	67476960	Disease	p.Gly298Asp	VAR_009371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009371	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	25	COG1123	7262393,NP_000024
215	67476960	Disease	p.Gly298Asp	VAR_009371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009371	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	280	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Gly298Asp	VAR_009371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009371	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	656	COG1132	7262393,NP_000024
215	67476960	Disease	p.Gly298Asp	VAR_009371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009371	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	99	COG4618	7262393,NP_000024
215	67476960	Disease	p.Gly298Asp	VAR_009371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009371	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	98	COG4988	7262393,NP_000024
215	67476960	Disease	p.Gly298Asp	VAR_009371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009371	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	438	COG4178	7262393,NP_000024
215	67476960	Disease	p.Glu302Lys	VAR_009372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009372	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	31	COG1123	7262393,NP_000024
215	67476960	Disease	p.Glu302Lys	VAR_009372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009372	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	284	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Glu302Lys	VAR_009372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009372	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	660	COG1132	7262393,NP_000024
215	67476960	Disease	p.Glu302Lys	VAR_009372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009372	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	COG4618	7262393,NP_000024
215	67476960	Disease	p.Glu302Lys	VAR_009372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009372	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102	COG4988	7262393,NP_000024
215	67476960	Disease	p.Glu302Lys	VAR_009372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009372	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	442	COG4178	7262393,NP_000024
215	67476960	Disease	p.Leu322Pro	VAR_009373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009373	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	101	COG1123	7262393,NP_000024
215	67476960	Disease	p.Leu322Pro	VAR_009373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009373	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	304	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Leu322Pro	VAR_009373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009373	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	704	COG1132	7262393,NP_000024
215	67476960	Disease	p.Leu322Pro	VAR_009373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009373	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	130	COG4618	7262393,NP_000024
215	67476960	Disease	p.Leu322Pro	VAR_009373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009373	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	120	COG4988	7262393,NP_000024
215	67476960	Disease	p.Leu322Pro	VAR_009373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009373	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	462	COG4178	7262393,NP_000024
215	67476960	Disease	p.Lys336Met	VAR_009374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009374	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	137	COG1123	7262393,NP_000024
215	67476960	Disease	p.Lys336Met	VAR_009374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009374	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	318	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Lys336Met	VAR_009374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009374	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	739	COG1132	7262393,NP_000024
215	67476960	Disease	p.Lys336Met	VAR_009374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009374	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	149	COG4618	7262393,NP_000024
215	67476960	Disease	p.Lys336Met	VAR_009374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009374	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	134	COG4988	7262393,NP_000024
215	67476960	Disease	p.Lys336Met	VAR_009374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009374	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	476	COG4178	7262393,NP_000024
215	67476960	Disease	p.Trp339Arg	VAR_013349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013349	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	140	COG1123	7262393,NP_000024
215	67476960	Disease	p.Trp339Arg	VAR_013349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013349	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	321	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Trp339Arg	VAR_013349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013349	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	761	COG1132	7262393,NP_000024
215	67476960	Disease	p.Trp339Arg	VAR_013349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013349	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	152	COG4618	7262393,NP_000024
215	67476960	Disease	p.Trp339Arg	VAR_013349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013349	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	141	COG4988	7262393,NP_000024
215	67476960	Disease	p.Trp339Arg	VAR_013349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013349	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	479	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ser342Pro	VAR_000061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000061	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	143	COG1123	7262393,NP_000024
215	67476960	Disease	p.Ser342Pro	VAR_000061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000061	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	324	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Ser342Pro	VAR_000061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000061	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	764	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ser342Pro	VAR_000061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000061	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	156	COG4618	7262393,NP_000024
215	67476960	Disease	p.Ser342Pro	VAR_000061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000061	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	144	COG4988	7262393,NP_000024
215	67476960	Disease	p.Ser342Pro	VAR_000061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000061	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	482	COG4178	7262393,NP_000024
215	67476960	Disease	p.Gly343Asp	VAR_013350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013350	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	144	COG1123	7262393,NP_000024
215	67476960	Disease	p.Gly343Asp	VAR_013350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013350	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	325	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Gly343Asp	VAR_013350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013350	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	765	COG1132	7262393,NP_000024
215	67476960	Disease	p.Gly343Asp	VAR_013350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013350	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	157	COG4618	7262393,NP_000024
215	67476960	Disease	p.Gly343Asp	VAR_013350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013350	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	145	COG4988	7262393,NP_000024
215	67476960	Disease	p.Gly343Asp	VAR_013350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013350	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	483	COG4178	7262393,NP_000024
215	67476960	Disease	p.Gly343Ser	VAR_023005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023005	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	144	COG1123	7262393,NP_000024
215	67476960	Disease	p.Gly343Ser	VAR_023005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023005	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	325	pfam06472	7262393,NP_000024
215	67476960	Disease	p.Gly343Ser	VAR_023005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023005	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	765	COG1132	7262393,NP_000024
215	67476960	Disease	p.Gly343Ser	VAR_023005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023005	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	157	COG4618	7262393,NP_000024
215	67476960	Disease	p.Gly343Ser	VAR_023005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023005	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	145	COG4988	7262393,NP_000024
215	67476960	Disease	p.Gly343Ser	VAR_023005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023005	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	483	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg389Gly	VAR_000062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000062	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	262	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg389Gly	VAR_000062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000062	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	839	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg389Gly	VAR_000062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000062	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	228	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg389Gly	VAR_000062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000062	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	218	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg389Gly	VAR_000062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000062	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	524	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg389His	VAR_000063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000063	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	262	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg389His	VAR_000063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000063	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	839	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg389His	VAR_000063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000063	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	228	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg389His	VAR_000063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000063	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	218	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg389His	VAR_000063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000063	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	524	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg401Gln	VAR_000064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000064	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	298	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg401Gln	VAR_000064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000064	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	867	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg401Gln	VAR_000064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000064	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	248	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg401Gln	VAR_000064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000064	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	233	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg401Gln	VAR_000064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000064	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	536	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg401Trp	VAR_009375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009375	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	298	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg401Trp	VAR_009375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009375	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	867	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg401Trp	VAR_009375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009375	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	248	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg401Trp	VAR_009375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009375	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	233	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg401Trp	VAR_009375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009375	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	536	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg418Trp	VAR_000065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000065	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	332	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg418Trp	VAR_000065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000065	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	923	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg418Trp	VAR_000065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000065	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	265	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg418Trp	VAR_000065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000065	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	264	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg418Trp	VAR_000065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000065	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	553	COG4178	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	12	cd03290	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	82	cd03250	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	15	COG1121	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	62	COG1119	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	483	COG1123	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	33	cd03301	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	10	cd03214	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	10	cd03226	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	10	cd00267	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	10	cd03225	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	10	cd03235	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	17	COG1137	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	48_G	cd03291	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	4	cd03268	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	12	cd03252	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	10	cd03262	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	11	cd03223	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	11	cd03216	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	10	cd03231	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	11	cd03249	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	11	cd03293	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	11	cd03256	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	11	cd03255	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	11	cd03221	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	11	cd03247	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	11	cd03264	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	11	cd03259	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	13	cd03254	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	11	cd03297	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	11	cd03229	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	11	cd03228	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	10_G	cd03299	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	11	cd03253	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	11	cd03246	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	11	cd03230	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	11	cd03292	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	11	cd03260	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	25	COG4778	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	13	COG4136	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	15	COG1131	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	20	COG1136	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	12	COG0410	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	12	cd03257	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	12	COG2884	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	13	COG4619	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	12	cd03251	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	6	cd03300	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	14	COG1116	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	14	COG1122	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	14	cd03233	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	14	COG3638	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	14	COG1124	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	14	COG3839	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	19	cd03213	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1072	COG1132	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	13	COG4161	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	13	cd03244	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	13	COG1120	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	379	COG4618	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	13	COG0396	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	10	cd03217	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	344	COG4988	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	16	cd03245	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	613	COG4178	7262393,NP_000024
215	67476960	Disease	p.Pro484Arg	VAR_000066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000066	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	7	COG4608	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	31	cd03290	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	101	cd03250	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	36	COG1121	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	81	COG1119	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	505	COG1123	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	52	cd03301	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	45	cd03214	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	31	cd03226	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	86	cd00267	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03225	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	31	cd03235	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	36	COG1137	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	66	cd03291	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	30	cd03268	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	32	cd03252	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	31	cd03262	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	45	cd03223	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	39	cd03216	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	29	cd03231	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	32	cd03249	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	36	cd03293	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	32	cd03256	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	42	cd03255	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	35	cd03221	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	31	cd03247	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	51	cd03264	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	53	cd03259	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	32	cd03254	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	39	cd03297	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	53	cd03229	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	63	cd03228	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	28	cd03299	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	cd03253	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	34	cd03246	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	53	cd03230	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	31	cd03292	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	33	cd03260	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	40	COG4778	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	29	cd03269	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	32	COG4136	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	58	COG1131	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	COG1136	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	33	COG0410	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03257	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	32	COG2884	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	32	COG4619	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	34	cd03251	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	33	cd03300	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	35	COG4133	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	31	cd03224	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	35	cd03248	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	31	cd03219	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	38	COG1116	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	38	COG1122	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	49	cd03233	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	35	COG3638	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	COG1124	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	55	COG3839	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	45	cd03213	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1202	COG1132	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	31	COG4161	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	35	cd03244	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	37	COG1120	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	400	COG4618	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	41	COG0396	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	31	cd03217	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	364	COG4988	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	35	cd03245	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	5	smart00382	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	667	COG4178	7262393,NP_000024
215	67476960	Disease	p.Leu503Pro	VAR_023006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023006	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	54	COG4608	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	35	cd03290	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	105	cd03250	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	40	COG1121	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	85	COG1119	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	509	COG1123	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	56	cd03301	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	49	cd03214	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	35	cd03226	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	90	cd00267	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	cd03225	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	35	cd03235	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	40	COG1137	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	70	cd03291	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	34	cd03268	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	36	cd03252	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	35	cd03262	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	49	cd03223	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	cd03216	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	33	cd03231	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	36	cd03249	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	40	cd03293	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	36	cd03256	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03255	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	39	cd03221	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	35	cd03247	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	54	cd03264	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	57	cd03259	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	36	cd03254	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	cd03297	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	57	cd03229	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	67	cd03228	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	32	cd03299	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	54	cd03253	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	38	cd03246	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	57	cd03230	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	35	cd03292	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	37	cd03260	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	COG4778	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	33	cd03269	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	36	COG4136	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	62	COG1131	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	COG1136	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	37	COG0410	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	cd03257	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	36	COG2884	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	36	COG4619	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	38	cd03251	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	37	cd03300	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	39	COG4133	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	35	cd03224	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	cd03248	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	35	cd03219	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	42	COG1116	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	42	COG1122	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	53	cd03233	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	39	COG3638	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	COG1124	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	59	COG3839	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	49	cd03213	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1213	COG1132	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	35	COG4161	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	39	cd03244	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	41	COG1120	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	404	COG4618	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	45	COG0396	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	35	cd03217	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	368	COG4988	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	39	cd03245	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	9	smart00382	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	671	COG4178	7262393,NP_000024
215	67476960	Disease	p.Gly507Val	VAR_000067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000067	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	58	COG4608	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	40	cd03290	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	110	cd03250	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	45	COG1121	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	90	COG1119	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	514	COG1123	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	61	cd03301	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	54	cd03214	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	40	cd03226	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95	cd00267	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	55	cd03225	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	40	cd03235	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	45	COG1137	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	75	cd03291	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	39	cd03268	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	41	cd03252	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	40	cd03262	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	54	cd03223	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	48	cd03216	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	38	cd03231	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	41	cd03249	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	45	cd03293	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	41	cd03256	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	51	cd03255	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	cd03221	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	40	cd03247	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	59	cd03264	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	62	cd03259	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	41	cd03254	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	48	cd03297	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	62	cd03229	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	72	cd03228	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	37	cd03299	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	59	cd03253	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	cd03246	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	62	cd03230	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	40	cd03292	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	42	cd03260	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	49	COG4778	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	38	cd03269	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	41	COG4136	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	67	COG1131	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	55	COG1136	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	42	COG0410	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	55	cd03257	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	41	COG2884	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	41	COG4619	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	cd03251	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	42	cd03300	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	COG4133	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	40	cd03224	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	52	cd03248	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	40	cd03219	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	COG1116	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	COG1122	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	58	cd03233	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	COG3638	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	52	COG1124	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	64	COG3839	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	54	cd03213	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1218	COG1132	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	40	COG4161	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	cd03244	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	COG1120	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	409	COG4618	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	COG0396	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	40	cd03217	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	373	COG4988	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	cd03245	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	16	smart00382	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	676	COG4178	7262393,NP_000024
215	67476960	Disease	p.Gly512Ser	VAR_000068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000068	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	63	COG4608	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	42	cd03290	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	112	cd03250	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	COG1121	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	92	COG1119	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	516	COG1123	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	63	cd03301	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	56	cd03214	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	42	cd03226	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	97	cd00267	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	57	cd03225	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	42	cd03235	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	COG1137	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	77	cd03291	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	41	cd03268	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	cd03252	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	42	cd03262	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	56	cd03223	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	cd03216	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	40	cd03231	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	cd03249	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	cd03293	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	cd03256	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	53	cd03255	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03221	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	42	cd03247	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	61	cd03264	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	64	cd03259	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	cd03254	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	cd03297	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	64	cd03229	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	74	cd03228	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	39	cd03299	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	61	cd03253	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	45	cd03246	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	64	cd03230	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	42	cd03292	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	cd03260	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	51	COG4778	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	40	cd03269	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	COG4136	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	69	COG1131	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	57	COG1136	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	COG0410	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	57	cd03257	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	COG2884	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	COG4619	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	45	cd03251	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	cd03300	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	COG4133	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	42	cd03224	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	54	cd03248	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	42	cd03219	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	49	COG1116	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	52	COG1122	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	60	cd03233	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	COG3638	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	54	COG1124	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	66	COG3839	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	56	cd03213	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1222	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	42	COG4161	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03244	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	48	COG1120	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	411	COG4618	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	52	COG0396	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	42	cd03217	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	375	COG4988	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03245	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	18	smart00382	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	678	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ser514Arg	VAR_023007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023007	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	65	COG4608	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	cd03290	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	113	cd03250	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	48	COG1121	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	93	COG1119	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	517	COG1123	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	64	cd03301	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	57	cd03214	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	cd03226	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	98	cd00267	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	58	cd03225	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	cd03235	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	48	COG1137	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	78	cd03291	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	2	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	42	cd03268	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	cd03252	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	cd03262	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	57	cd03223	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	51	cd03216	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	41	cd03231	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	cd03249	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	48	cd03293	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	cd03256	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	54	cd03255	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	cd03221	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	cd03247	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	62	cd03264	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	65	cd03259	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	cd03254	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	51	cd03297	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	65	cd03229	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	75	cd03228	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	40	cd03299	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	62	cd03253	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03246	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	65	cd03230	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	cd03292	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	45	cd03260	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	52	COG4778	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	41	cd03269	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	COG4136	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	70	COG1131	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	58	COG1136	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	45	COG0410	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	58	cd03257	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	COG2884	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	COG4619	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03251	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	45	cd03300	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	COG4133	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	cd03224	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	55	cd03248	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	cd03219	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	COG1116	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	53	COG1122	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	61	cd03233	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	COG3638	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	55	COG1124	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	67	COG3839	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	57	cd03213	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1223	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	COG4161	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	cd03244	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	49	COG1120	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	412	COG4618	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	53	COG0396	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	cd03217	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	376	COG4988	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	cd03245	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	19	smart00382	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	679	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ser515Phe	VAR_000069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000069	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	66	COG4608	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	cd03290	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	116	cd03250	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	51	COG1121	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96	COG1119	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	520	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	67	cd03301	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	60	cd03214	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03226	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	101	cd00267	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	61	cd03225	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03235	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	51	COG1137	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	82	cd03291	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	5	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	45	cd03268	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	cd03252	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03262	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	60	cd03223	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	54	cd03216	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	cd03231	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	cd03249	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	51	cd03293	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	cd03256	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	57	cd03255	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	cd03221	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03247	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	65	cd03264	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	68	cd03259	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	cd03254	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	54	cd03297	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	68	cd03229	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	78	cd03228	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	cd03299	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	65	cd03253	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	49	cd03246	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	68	cd03230	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03292	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	48	cd03260	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	55	COG4778	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	cd03269	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	COG4136	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	73	COG1131	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	61	COG1136	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	48	COG0410	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	61	cd03257	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	COG2884	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	COG4619	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	49	cd03251	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	48	cd03300	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	COG4133	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03224	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	58	cd03248	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03219	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	53	COG1116	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	56	COG1122	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	64	cd03233	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	COG3638	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	58	COG1124	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	70	COG3839	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	60	cd03213	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1226	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	COG4161	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	cd03244	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	52	COG1120	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	415	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	56	COG0396	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03217	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	379	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	cd03245	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	23	smart00382	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	682	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg518Gln	VAR_000070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000070	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	69	COG4608	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	cd03290	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	116	cd03250	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	51	COG1121	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96	COG1119	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	520	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	67	cd03301	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	60	cd03214	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03226	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	101	cd00267	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	61	cd03225	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03235	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	51	COG1137	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	82	cd03291	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	5	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	45	cd03268	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	cd03252	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03262	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	60	cd03223	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	54	cd03216	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	cd03231	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	cd03249	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	51	cd03293	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	cd03256	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	57	cd03255	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	cd03221	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03247	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	65	cd03264	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	68	cd03259	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	cd03254	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	54	cd03297	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	68	cd03229	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	78	cd03228	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	43	cd03299	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	65	cd03253	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	49	cd03246	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	68	cd03230	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03292	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	48	cd03260	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	55	COG4778	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	44	cd03269	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	COG4136	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	73	COG1131	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	61	COG1136	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	48	COG0410	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	61	cd03257	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	COG2884	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	47	COG4619	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	49	cd03251	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	48	cd03300	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	COG4133	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03224	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	58	cd03248	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03219	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	53	COG1116	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	56	COG1122	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	64	cd03233	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	COG3638	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	58	COG1124	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	70	COG3839	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	60	cd03213	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1226	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	COG4161	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	cd03244	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	52	COG1120	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	415	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	56	COG0396	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	46	cd03217	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	379	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	cd03245	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	23	smart00382	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	682	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg518Trp	VAR_000071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000071	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	69	COG4608	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	51	cd03290	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	121	cd03250	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	55	COG1121	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	101	COG1119	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	524	COG1123	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	71	cd03301	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	64	cd03214	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	cd03226	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	105	cd00267	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	65	cd03225	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	cd03235	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	55	COG1137	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	86	cd03291	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	10	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	49	cd03268	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	51	cd03252	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	cd03262	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	64	cd03223	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	58	cd03216	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	48	cd03231	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	51	cd03249	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	55	cd03293	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	51	cd03256	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	61	cd03255	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	54	cd03221	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	51	cd03247	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	69	cd03264	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	72	cd03259	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	51	cd03254	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	58	cd03297	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	72	cd03229	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	82	cd03228	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	48	cd03299	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	69	cd03253	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	53	cd03246	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	72	cd03230	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	51	cd03292	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	52	cd03260	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	59	COG4778	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	48	cd03269	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	51	COG4136	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	77	COG1131	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	65	COG1136	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	52	COG0410	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	65	cd03257	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	52	COG2884	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	51	COG4619	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	53	cd03251	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	52	cd03300	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	54	COG4133	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	cd03224	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	62	cd03248	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	cd03219	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	57	COG1116	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	60	COG1122	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	68	cd03233	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	54	COG3638	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	62	COG1124	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	74	COG3839	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	64	cd03213	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1230	COG1132	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	COG4161	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	54	cd03244	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	56	COG1120	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	419	COG4618	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	60	COG0396	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	50	cd03217	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	383	COG4988	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	54	cd03245	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	27	smart00382	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	686	COG4178	7262393,NP_000024
215	67476960	Disease	p.Gly522Trp	VAR_000072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000072	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	73	COG4608	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	58	cd03290	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	132	cd03250	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	63	COG1121	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	108	COG1119	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	533	COG1123	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	78	cd03301	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	74	cd03214	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	59	cd03226	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	152	cd00267	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	79	cd03225	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	58	cd03235	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	62	COG1137	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	93	cd03291	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	23	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	57	cd03268	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	59	cd03252	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	57	cd03262	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	78	cd03223	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	70	cd03216	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	56	cd03231	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	88	cd03249	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	63	cd03293	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	58	cd03256	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	72	cd03255	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	65	cd03221	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	58	cd03247	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	78	cd03264	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	81	cd03259	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	58	cd03254	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	65	cd03297	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	85	cd03229	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	113	cd03228	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	55	cd03299	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	77	cd03253	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	61	cd03246	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	80	cd03230	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	58	cd03292	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	66	cd03260	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	66	COG4778	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	55	cd03269	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	61	COG4136	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	88	COG1131	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	73	COG1136	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	63	COG0410	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	87	cd03257	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	59	COG2884	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	59	COG4619	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	61	cd03251	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	60	cd03300	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	62	COG4133	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	62	cd03224	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	70	cd03248	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	57	cd03219	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	64	COG1116	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	228	COG1122	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	85	cd03233	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	67	COG3638	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	71	COG1124	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	87	COG3839	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	77	cd03213	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1239	COG1132	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	57	COG4161	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	70	cd03244	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	64	COG1120	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	426	COG4618	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	70	COG0396	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	60	cd03217	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	397	COG4988	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	62	cd03245	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	64	smart00382	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	700	COG4178	7262393,NP_000024
215	67476960	Disease	p.Gly529Ser	VAR_009376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009376	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	83	COG4608	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	63	cd03290	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	137	cd03250	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	68	COG1121	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	117	COG1119	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	540	COG1123	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	83	cd03301	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	81	cd03214	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	64	cd03226	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	157	cd00267	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	84	cd03225	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	63	cd03235	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	75	COG1137	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	97_G	cd03291	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	28	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	62	cd03268	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	63_G	cd03252	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	79	cd03262	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	83	cd03223	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	73_G	cd03216	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	61	cd03231	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	148	cd03249	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	101	cd03293	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	63	cd03256	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	78	cd03255	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	70	cd03221	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	73	cd03247	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	83	cd03264	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	99	cd03259	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	74	cd03254	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	76	cd03297	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	90	cd03229	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	118	cd03228	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	67	cd03299	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	79_G	cd03253	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	74	cd03246	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	98	cd03230	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	63	cd03292	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	70_G	cd03260	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	71	COG4778	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	66	cd03269	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	65	COG4136	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102	COG1131	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	79	COG1136	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	80	COG0410	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	92	cd03257	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	64	COG2884	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	64	COG4619	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	74	cd03251	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	72	cd03300	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	68	COG4133	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	75	cd03224	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	77	cd03248	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	70	cd03219	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	77	COG1116	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	235	COG1122	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	90	cd03233	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	72	COG3638	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	76	COG1124	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	92	COG3839	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	82	cd03213	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1261	COG1132	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	62	COG4161	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	83	cd03244	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	72	COG1120	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	437	COG4618	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	75	COG0396	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	72	cd03217	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	402	COG4988	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	67	cd03245	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	76	smart00382	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	705	COG4178	7262393,NP_000024
215	67476960	Disease	p.Pro534Leu	VAR_000074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000074	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	88	COG4608	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	93	cd03290	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	162	cd03250	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	83	COG1121	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	126	COG1119	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	556	COG1123	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95	cd03301	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	87	cd03214	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102	cd03226	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	224	cd00267	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	115	cd03225	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	78	cd03235	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	85	COG1137	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	101	cd03291	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	56	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	69	cd03268	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	68	cd03252	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	85	cd03262	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	123	cd03223	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	73_G	cd03216	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	76	cd03231	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03249	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	107	cd03293	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	69	cd03256	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	84	cd03255	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	77	cd03221	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	79	cd03247	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	90	cd03264	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	105	cd03259	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	80	cd03254	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	82	cd03297	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	122	cd03229	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	198	cd03228	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	73	cd03299	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	79_G	cd03253	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	80	cd03246	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	cd03230	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	69	cd03292	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	75	cd03260	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	77	COG4778	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	74	cd03269	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	71	COG4136	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	124	COG1131	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	99	COG1136	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	90	COG0410	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	250	cd03257	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	70	COG2884	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	80	COG4619	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	82	cd03251	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	78	cd03300	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	74	COG4133	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	86	cd03224	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	91	cd03248	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	82	cd03219	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	88	COG1116	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	418	COG1122	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	100	cd03233	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	93	COG3638	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	100	COG1124	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	109	COG3839	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	88	cd03213	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1267	COG1132	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	68	COG4161	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	92	cd03244	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	128	COG1120	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	443	COG4618	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	93	COG0396	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	82	cd03217	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	413	COG4988	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	73	cd03245	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	82	smart00382	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	716	COG4178	7262393,NP_000024
215	67476960	Disease	p.Phe540Ser	VAR_009377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009377	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	152	COG4608	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96	cd03290	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	165	cd03250	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	86	COG1121	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	129	COG1119	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	559	COG1123	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	98	cd03301	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	141	cd03214	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	105	cd03226	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	227	cd00267	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	118	cd03225	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	81	cd03235	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	88	COG1137	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	cd03291	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	59	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	72	cd03268	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	71	cd03252	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	88	cd03262	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	126	cd03223	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	73_G	cd03216	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	79	cd03231	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	160	cd03249	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	110	cd03293	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	72	cd03256	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	105	cd03255	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	80	cd03221	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	82	cd03247	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	103	cd03264	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	109	cd03259	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	83	cd03254	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	85	cd03297	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	125	cd03229	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	201	cd03228	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	77	cd03299	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	81	cd03253	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	85	cd03246	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	107	cd03230	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	72	cd03292	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	78	cd03260	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	80	COG4778	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	77	cd03269	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	74	COG4136	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	127	COG1131	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	110	COG1136	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	93	COG0410	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	253	cd03257	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	73	COG2884	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	83	COG4619	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	85	cd03251	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	82	cd03300	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	77	COG4133	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	93	cd03224	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	94	cd03248	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	107	cd03219	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	91	COG1116	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	421	COG1122	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	103	cd03233	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96	COG3638	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	103	COG1124	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	112	COG3839	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	91	cd03213	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1271	COG1132	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	71	COG4161	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95	cd03244	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	131	COG1120	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	451	COG4618	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	122	COG0396	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	85	cd03217	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	416	COG4988	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	86	cd03245	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	85	smart00382	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	719	COG4178	7262393,NP_000024
215	67476960	Disease	p.Pro543Leu	VAR_009378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009378	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	155	COG4608	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	97	cd03290	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	166	cd03250	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	87	COG1121	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	130	COG1119	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	560	COG1123	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	99	cd03301	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	cd03214	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	106	cd03226	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	228	cd00267	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	119	cd03225	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	82	cd03235	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	89	COG1137	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	105	cd03291	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	60	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	73	cd03268	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	72	cd03252	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	89	cd03262	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	127	cd03223	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	73_G	cd03216	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	80	cd03231	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	cd03249	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	111	cd03293	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	74	cd03256	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	106	cd03255	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	81	cd03221	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	83	cd03247	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	cd03264	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	110	cd03259	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	84	cd03254	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	86	cd03297	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	126	cd03229	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	202	cd03228	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	78	cd03299	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	82	cd03253	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	86	cd03246	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	108	cd03230	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	73	cd03292	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	98	cd03260	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	81	COG4778	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	79	cd03269	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	77	COG4136	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	128	COG1131	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	111	COG1136	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	94	COG0410	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	254	cd03257	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	74	COG2884	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	84	COG4619	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	86	cd03251	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	83	cd03300	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	79	COG4133	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	94	cd03224	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95	cd03248	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	108	cd03219	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	92	COG1116	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	422	COG1122	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	cd03233	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	97	COG3638	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	COG1124	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	113	COG3839	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	92	cd03213	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1277	COG1132	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	72	COG4161	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96	cd03244	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	132	COG1120	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	452	COG4618	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	123	COG0396	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	86	cd03217	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	417	COG4988	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	87	cd03245	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	86	smart00382	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	720	COG4178	7262393,NP_000024
215	67476960	Disease	p.Gln544Arg	VAR_009379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009379	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	156	COG4608	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	105	cd03290	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	174	cd03250	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95_G	COG1121	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	138	COG1119	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	583	COG1123	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	118_G	cd03301	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	150	cd03214	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	108_G	cd03226	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	236	cd00267	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	121_G	cd03225	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	90_G	cd03235	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	99_G	COG1137	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	113	cd03291	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	71	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	81	cd03268	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	81	cd03252	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	108_G	cd03262	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	137	cd03223	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	73_G	cd03216	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	89	cd03231	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	cd03249	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	123_G	cd03293	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	82	cd03256	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	116_G	cd03255	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	81_G	cd03221	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	91	cd03247	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	113	cd03264	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	122_G	cd03259	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	92	cd03254	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	105_G	cd03297	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	135_G	cd03229	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	cd03228	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	88_G	cd03299	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	92	cd03253	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	94	cd03246	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	115_G	cd03230	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	82_G	cd03292	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	107	cd03260	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	89	COG4778	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	88_G	cd03269	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96_G	COG4136	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	138	COG1131	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	120	COG1136	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	119	COG0410	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	267_G	cd03257	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96	COG2884	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	92	COG4619	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	94	cd03251	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	94_G	cd03300	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	100	COG4133	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104_G	cd03224	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	103	cd03248	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	116	cd03219	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	103_G	COG1116	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	432	COG1122	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	121	cd03233	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102	COG3638	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	118	COG1124	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	123_G	COG3839	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	100	cd03213	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1286	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	80	COG4161	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	105	cd03244	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	145	COG1120	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	460	COG4618	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	131	COG0396	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95	cd03217	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	425	COG4988	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95	cd03245	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	94	smart00382	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	729	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ser552Pro	VAR_009380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009380	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	696	COG4608	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	107	cd03290	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	176	cd03250	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95_G	COG1121	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	140	COG1119	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	585	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	119	cd03301	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	152	cd03214	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	108_G	cd03226	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	238	cd00267	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	122	cd03225	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	90_G	cd03235	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	100	COG1137	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	115	cd03291	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	101	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	83	cd03268	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	84	cd03252	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	109	cd03262	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	139	cd03223	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	75	cd03216	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	91	cd03231	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03249	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	124	cd03293	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	84	cd03256	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	117	cd03255	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	83	cd03221	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	93	cd03247	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	115	cd03264	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	123	cd03259	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	94	cd03254	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	106	cd03297	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	136	cd03229	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	213	cd03228	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	89	cd03299	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	94	cd03253	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96	cd03246	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	117	cd03230	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	82_G	cd03292	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	109	cd03260	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	91	COG4778	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	89	cd03269	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96_G	COG4136	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	140	COG1131	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	122	COG1136	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	121	COG0410	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	267_G	cd03257	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	98	COG2884	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	94	COG4619	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96	cd03251	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	94_G	cd03300	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102	COG4133	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	105	cd03224	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	105	cd03248	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	118	cd03219	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	COG1116	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	434	COG1122	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	123	cd03233	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	COG3638	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	120	COG1124	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	124	COG3839	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102	cd03213	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1290	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	82	COG4161	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	107	cd03244	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	147	COG1120	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	462	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	133	COG0396	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	97	cd03217	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	427	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	97	cd03245	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96	smart00382	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	731	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg554His	VAR_009381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009381	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	698	COG4608	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	109	cd03290	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	cd03250	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95_G	COG1121	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	COG1119	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	587	COG1123	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	121	cd03301	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03214	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	110	cd03226	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	240	cd00267	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	124	cd03225	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	90_G	cd03235	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102	COG1137	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	117	cd03291	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	103	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	86	cd03268	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	86	cd03252	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	111	cd03262	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	141	cd03223	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	77	cd03216	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	93	cd03231	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	173	cd03249	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	126	cd03293	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	86	cd03256	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	119	cd03255	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	85	cd03221	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95	cd03247	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	117	cd03264	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	125	cd03259	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96	cd03254	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	108	cd03297	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	138	cd03229	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	215	cd03228	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	91	cd03299	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	cd03253	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	98	cd03246	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	119	cd03230	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	82_G	cd03292	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	111	cd03260	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	93	COG4778	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	91	cd03269	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	98	COG4136	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	COG1131	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	124	COG1136	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	123	COG0410	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	267_G	cd03257	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	100	COG2884	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96	COG4619	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	98	cd03251	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96	cd03300	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	COG4133	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	107	cd03224	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	107	cd03248	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	120	cd03219	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	106	COG1116	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	436	COG1122	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	125	cd03233	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	106	COG3638	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	122	COG1124	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	126	COG3839	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	106	cd03213	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1292	COG1132	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	84	COG4161	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	108	cd03244	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	149	COG1120	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	464	COG4618	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	147	COG0396	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	99	cd03217	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	429	COG4988	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	99	cd03245	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	98	smart00382	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	733	COG4178	7262393,NP_000024
215	67476960	Disease	p.Gln556Arg	VAR_013352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013352	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	700	COG4608	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	112_G	cd03290	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	182	cd03250	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	97	COG1121	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	COG1119	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	594	COG1123	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	125	cd03301	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	cd03214	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	114	cd03226	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	244	cd00267	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	128	cd03225	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	92	cd03235	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	105_G	COG1137	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	121	cd03291	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	107	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	90	cd03268	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	90	cd03252	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	115	cd03262	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	145	cd03223	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	81	cd03216	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96_G	cd03231	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	177	cd03249	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	130	cd03293	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	99	cd03256	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	123	cd03255	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	89	cd03221	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96_G	cd03247	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	121	cd03264	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	129	cd03259	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	100	cd03254	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	112	cd03297	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	cd03229	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	219	cd03228	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95	cd03299	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	108	cd03253	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102	cd03246	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	123	cd03230	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	86	cd03292	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	115	cd03260	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95_G	COG4778	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95	cd03269	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	COG4136	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	153	COG1131	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	132	COG1136	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	123_G	COG0410	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	267_G	cd03257	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	COG2884	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	100	COG4619	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102	cd03251	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	100	cd03300	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104_G	COG4133	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	111	cd03224	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	111	cd03248	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	146	cd03219	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	110	COG1116	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	441	COG1122	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	129	cd03233	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	115	COG3638	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	126	COG1124	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	130	COG3839	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	110	cd03213	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1296	COG1132	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96	COG4161	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	112	cd03244	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	153	COG1120	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	467_G	COG4618	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	COG0396	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	103	cd03217	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	431_G	COG4988	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102_G	cd03245	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102	smart00382	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	737	COG4178	7262393,NP_000024
215	67476960	Disease	p.Pro560Leu	VAR_000075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000075	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	704	COG4608	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	112_G	cd03290	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	182	cd03250	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	97	COG1121	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	COG1119	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	594	COG1123	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	125	cd03301	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	cd03214	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	114	cd03226	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	244	cd00267	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	128	cd03225	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	92	cd03235	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	105_G	COG1137	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	121	cd03291	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	107	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	90	cd03268	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	90	cd03252	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	115	cd03262	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	145	cd03223	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	81	cd03216	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96_G	cd03231	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	177	cd03249	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	130	cd03293	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	99	cd03256	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	123	cd03255	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	89	cd03221	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96_G	cd03247	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	121	cd03264	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	129	cd03259	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	100	cd03254	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	112	cd03297	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	cd03229	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	219	cd03228	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95	cd03299	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	108	cd03253	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102	cd03246	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	123	cd03230	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	86	cd03292	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	115	cd03260	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95_G	COG4778	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95	cd03269	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	COG4136	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	153	COG1131	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	132	COG1136	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	123_G	COG0410	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	267_G	cd03257	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	COG2884	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	100	COG4619	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102	cd03251	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	100	cd03300	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104_G	COG4133	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	111	cd03224	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	111	cd03248	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	146	cd03219	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	110	COG1116	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	441	COG1122	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	129	cd03233	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	115	COG3638	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	126	COG1124	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	130	COG3839	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	110	cd03213	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1296	COG1132	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96	COG4161	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	112	cd03244	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	153	COG1120	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	467_G	COG4618	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	COG0396	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	103	cd03217	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	431_G	COG4988	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102_G	cd03245	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102	smart00382	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	737	COG4178	7262393,NP_000024
215	67476960	Disease	p.Pro560Arg	VAR_000076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000076	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	704	COG4608	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	112_G	cd03290	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	182	cd03250	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	97	COG1121	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	COG1119	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	594	COG1123	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	125	cd03301	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	cd03214	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	114	cd03226	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	244	cd00267	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	128	cd03225	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	92	cd03235	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	105_G	COG1137	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	121	cd03291	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	107	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	90	cd03268	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	90	cd03252	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	115	cd03262	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	145	cd03223	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	81	cd03216	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96_G	cd03231	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	177	cd03249	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	130	cd03293	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	99	cd03256	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	123	cd03255	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	89	cd03221	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96_G	cd03247	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	121	cd03264	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	129	cd03259	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	100	cd03254	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	112	cd03297	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	cd03229	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	219	cd03228	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95	cd03299	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	108	cd03253	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102	cd03246	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	123	cd03230	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	86	cd03292	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	115	cd03260	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95_G	COG4778	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95	cd03269	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	COG4136	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	153	COG1131	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	132	COG1136	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	123_G	COG0410	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	267_G	cd03257	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	COG2884	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	100	COG4619	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102	cd03251	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	100	cd03300	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104_G	COG4133	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	111	cd03224	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	111	cd03248	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	146	cd03219	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	110	COG1116	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	441	COG1122	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	129	cd03233	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	115	COG3638	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	126	COG1124	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	130	COG3839	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	110	cd03213	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1296	COG1132	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96	COG4161	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	112	cd03244	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	153	COG1120	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	467_G	COG4618	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	COG0396	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	103	cd03217	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	431_G	COG4988	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102_G	cd03245	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102	smart00382	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	737	COG4178	7262393,NP_000024
215	67476960	Disease	p.Pro560Ser	VAR_013353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013353	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	704	COG4608	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	118	cd03290	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	cd03250	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	103	COG1121	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	COG1119	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	601	COG1123	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	131	cd03301	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	175	cd03214	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	125	cd03226	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	250	cd00267	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	140	cd03225	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	cd03235	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	109	COG1137	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	127	cd03291	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	103	cd03268	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	96	cd03252	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	117	cd03262	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	cd03223	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95	cd03216	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	97	cd03231	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	186	cd03249	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	146	cd03293	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	103	cd03256	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	129	cd03255	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95	cd03221	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	98	cd03247	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	127	cd03264	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	133	cd03259	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102_G	cd03254	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	124	cd03297	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	143	cd03229	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	219_G	cd03228	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	101	cd03299	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	117	cd03253	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	108	cd03246	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	129	cd03230	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	109	cd03292	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	121	cd03260	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	95_G	COG4778	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	101	cd03269	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	110	COG4136	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	159	COG1131	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	139	COG1136	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	125	COG0410	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	273	cd03257	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	110	COG2884	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	106	COG4619	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	115	cd03251	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	101	cd03300	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	108	COG4133	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	119	cd03224	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	118	cd03248	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	152	cd03219	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	116	COG1116	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	442	COG1122	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	135	cd03233	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	121	COG3638	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	205	COG1124	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	136	COG3839	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	123	cd03213	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1305	COG1132	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	104	COG4161	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	121	cd03244	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	COG1120	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	468	COG4618	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	157	COG0396	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	109	cd03217	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	432	COG4988	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	102_G	cd03245	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	108	smart00382	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	750_G	COG4178	7262393,NP_000024
215	67476960	Disease	p.Met566Lys	VAR_000077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000077	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	710	COG4608	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	143	cd03290	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	212	cd03250	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	140	COG1121	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	198	COG1119	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	659	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	194	cd03301	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	201	cd03214	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	147_G	cd03226	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1265	cd00267	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03225	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	144	cd03235	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	COG1137	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03291	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	215	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	132	cd03268	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	125	cd03252	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	143_G	cd03262	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	212	cd03223	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	127	cd03216	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	118_G	cd03231	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	247	cd03249	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	cd03293	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	145_G	cd03256	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	162	cd03255	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	120	cd03221	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	130	cd03247	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	152	cd03264	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03259	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	127	cd03254	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	145	cd03297	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03229	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	286	cd03228	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	125	cd03299	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	144	cd03253	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	127	cd03246	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03230	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	132	cd03292	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	152_G	cd03260	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	122	COG4778	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	125	cd03269	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	127_G	COG4136	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	COG1131	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170	COG1136	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	155	COG0410	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	399	cd03257	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	130_G	COG2884	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	133	COG4619	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	144	cd03251	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	130	cd03300	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	134	COG4133	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	cd03224	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	cd03248	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	cd03219	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	150	COG1116	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	476	COG1122	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	185	cd03233	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	153	COG3638	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	239_G	COG1124	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	408	COG3839	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	cd03213	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1351	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	129	COG4161	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03244	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	192	COG1120	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	493	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	204	COG0396	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	145	cd03217	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	458	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	137	cd03245	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	234	smart00382	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	773	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg591Pro	VAR_013354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013354	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	740	COG4608	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	143	cd03290	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	212	cd03250	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	140	COG1121	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	198	COG1119	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	659	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	194	cd03301	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	201	cd03214	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	147_G	cd03226	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1265	cd00267	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03225	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	144	cd03235	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	COG1137	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03291	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	215	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	132	cd03268	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	125	cd03252	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	143_G	cd03262	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	212	cd03223	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	127	cd03216	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	118_G	cd03231	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	247	cd03249	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	cd03293	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	145_G	cd03256	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	162	cd03255	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	120	cd03221	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	130	cd03247	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	152	cd03264	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03259	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	127	cd03254	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	145	cd03297	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03229	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	286	cd03228	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	125	cd03299	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	144	cd03253	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	127	cd03246	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03230	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	132	cd03292	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	152_G	cd03260	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	122	COG4778	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	125	cd03269	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	127_G	COG4136	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	COG1131	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170	COG1136	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	155	COG0410	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	399	cd03257	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	130_G	COG2884	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	133	COG4619	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	144	cd03251	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	130	cd03300	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	134	COG4133	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	cd03224	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	cd03248	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	cd03219	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	150	COG1116	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	476	COG1122	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	185	cd03233	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	153	COG3638	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	239_G	COG1124	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	408	COG3839	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	cd03213	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1351	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	129	COG4161	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03244	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	192	COG1120	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	493	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	204	COG0396	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	145	cd03217	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	458	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	137	cd03245	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	234	smart00382	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	773	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg591Gln	VAR_000078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000078	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	740	COG4608	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	143	cd03290	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	212	cd03250	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	140	COG1121	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	198	COG1119	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	659	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	194	cd03301	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	201	cd03214	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	147_G	cd03226	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1265	cd00267	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03225	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	144	cd03235	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	COG1137	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03291	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	215	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	132	cd03268	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	125	cd03252	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	143_G	cd03262	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	212	cd03223	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	127	cd03216	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	118_G	cd03231	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	247	cd03249	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	cd03293	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	145_G	cd03256	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	162	cd03255	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	120	cd03221	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	130	cd03247	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	152	cd03264	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03259	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	127	cd03254	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	145	cd03297	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03229	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	286	cd03228	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	125	cd03299	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	144	cd03253	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	127	cd03246	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03230	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	132	cd03292	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	152_G	cd03260	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	122	COG4778	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	125	cd03269	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	127_G	COG4136	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	COG1131	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170	COG1136	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	155	COG0410	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	399	cd03257	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	130_G	COG2884	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	133	COG4619	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	144	cd03251	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	130	cd03300	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	134	COG4133	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	cd03224	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	cd03248	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	cd03219	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	150	COG1116	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	476	COG1122	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	185	cd03233	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	153	COG3638	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	239_G	COG1124	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	408	COG3839	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	cd03213	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1351	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	129	COG4161	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03244	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	192	COG1120	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	493	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	204	COG0396	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	145	cd03217	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	458	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	137	cd03245	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	234	smart00382	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	773	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg591Trp	VAR_009382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009382	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	740	COG4608	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	153	cd03290	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	253	cd03250	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	156	COG1121	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	207	COG1119	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	680	COG1123	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	200	cd03301	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	207	cd03214	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	158	cd03226	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1271	cd00267	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	177	cd03225	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	150	cd03235	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	148	COG1137	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	cd03291	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	251	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	138	cd03268	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	141	cd03252	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	153	cd03262	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	227	cd03223	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	cd03216	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	130	cd03231	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	268	cd03249	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	cd03293	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03256	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03255	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	252	cd03221	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	146	cd03247	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	158	cd03264	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	cd03259	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	143	cd03254	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	cd03297	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	186	cd03229	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	302	cd03228	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	131	cd03299	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	160	cd03253	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	143	cd03246	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	cd03230	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	139	cd03292	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	168	cd03260	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	COG4778	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	131	cd03269	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	138	COG4136	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	195	COG1131	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	177	COG1136	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	COG0410	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	411	cd03257	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	140	COG2884	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	139	COG4619	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	160	cd03251	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	136	cd03300	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	140	COG4133	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	157	cd03224	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	166	cd03248	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	cd03219	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	156	COG1116	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	482	COG1122	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	196	cd03233	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	158	COG3638	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	251	COG1124	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	415	COG3839	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	225	cd03213	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1386	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	144	COG4161	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	186	cd03244	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	199	COG1120	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	509	COG4618	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	COG0396	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	152	cd03217	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	475	COG4988	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	144	cd03245	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	249	smart00382	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	819	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ser606Leu	VAR_000079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000079	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	746	COG4608	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	153	cd03290	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	253	cd03250	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	156	COG1121	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	207	COG1119	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	680	COG1123	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	200	cd03301	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	207	cd03214	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	158	cd03226	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1271	cd00267	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	177	cd03225	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	150	cd03235	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	148	COG1137	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	cd03291	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	251	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	138	cd03268	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	141	cd03252	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	153	cd03262	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	227	cd03223	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	cd03216	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	130	cd03231	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	268	cd03249	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	cd03293	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03256	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03255	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	252	cd03221	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	146	cd03247	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	158	cd03264	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	cd03259	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	143	cd03254	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	cd03297	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	186	cd03229	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	302	cd03228	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	131	cd03299	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	160	cd03253	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	143	cd03246	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	cd03230	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	139	cd03292	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	168	cd03260	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	COG4778	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	131	cd03269	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	138	COG4136	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	195	COG1131	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	177	COG1136	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	COG0410	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	411	cd03257	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	140	COG2884	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	139	COG4619	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	160	cd03251	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	136	cd03300	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	140	COG4133	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	157	cd03224	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	166	cd03248	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	cd03219	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	156	COG1116	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	482	COG1122	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	196	cd03233	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	158	COG3638	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	251	COG1124	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	415	COG3839	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	225	cd03213	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1386	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	144	COG4161	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	186	cd03244	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	199	COG1120	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	509	COG4618	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	COG0396	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	152	cd03217	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	475	COG4988	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	144	cd03245	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	249	smart00382	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	819	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ser606Pro	VAR_000080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000080	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	746	COG4608	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	155	cd03290	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	255	cd03250	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	158	COG1121	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	209	COG1119	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	682	COG1123	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	202	cd03301	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	209	cd03214	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	160	cd03226	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1273	cd00267	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	179	cd03225	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	152	cd03235	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	150	COG1137	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03291	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	253	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	140	cd03268	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	143	cd03252	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	155	cd03262	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	229	cd03223	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	174	cd03216	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	132	cd03231	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	270	cd03249	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	cd03293	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	156	cd03256	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	173	cd03255	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	254	cd03221	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	148	cd03247	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	160	cd03264	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03259	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	145	cd03254	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	153	cd03297	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	cd03229	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	304	cd03228	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	133	cd03299	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	162	cd03253	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	145	cd03246	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03230	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	141	cd03292	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170	cd03260	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	156	COG4778	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	133	cd03269	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	140	COG4136	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	COG1131	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	179	COG1136	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	COG0410	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	413	cd03257	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	COG2884	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	141	COG4619	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	162	cd03251	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	138	cd03300	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	COG4133	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	159	cd03224	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	168	cd03248	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	cd03219	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	158	COG1116	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	484	COG1122	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	198	cd03233	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	160	COG3638	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	253	COG1124	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	417	COG3839	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	227	cd03213	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1388	COG1132	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	146	COG4161	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	cd03244	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	202	COG1120	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	511	COG4618	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	213	COG0396	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03217	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	477	COG4988	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	146	cd03245	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	251	smart00382	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	821	COG4178	7262393,NP_000024
215	67476960	Disease	p.Gly608Asp	VAR_013355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013355	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	748	COG4608	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	156	cd03290	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	256	cd03250	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	159	COG1121	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	COG1119	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	683	COG1123	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	203	cd03301	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	cd03214	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	cd03226	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1278	cd00267	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	cd03225	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	153	cd03235	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	COG1137	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	cd03291	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	254	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	141	cd03268	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	144	cd03252	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	156	cd03262	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	230	cd03223	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	175	cd03216	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	133	cd03231	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	271	cd03249	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	181	cd03293	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	157	cd03256	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	174	cd03255	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	255	cd03221	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	149	cd03247	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	cd03264	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	cd03259	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	146	cd03254	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03297	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	cd03229	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	309	cd03228	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	134	cd03299	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03253	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	146	cd03246	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	cd03230	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	cd03292	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03260	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	157	COG4778	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	134	cd03269	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	141	COG4136	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	198	COG1131	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	COG1136	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	COG0410	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	414	cd03257	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	143	COG2884	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	COG4619	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03251	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	139	cd03300	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	143	COG4133	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	160	cd03224	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	cd03248	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	181	cd03219	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	159	COG1116	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	485	COG1122	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	199	cd03233	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	COG3638	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	254	COG1124	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	418	COG3839	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	228	cd03213	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1389	COG1132	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	147	COG4161	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	cd03244	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	203	COG1120	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	512	COG4618	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	214	COG0396	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	155	cd03217	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	478	COG4988	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	147	cd03245	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	252	smart00382	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	822	COG4178	7262393,NP_000024
215	67476960	Disease	p.Glu609Gly	VAR_000081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000081	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	749	COG4608	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	156	cd03290	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	256	cd03250	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	159	COG1121	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	COG1119	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	683	COG1123	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	203	cd03301	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	cd03214	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	cd03226	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1278	cd00267	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	cd03225	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	153	cd03235	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	COG1137	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	cd03291	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	254	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	141	cd03268	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	144	cd03252	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	156	cd03262	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	230	cd03223	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	175	cd03216	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	133	cd03231	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	271	cd03249	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	181	cd03293	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	157	cd03256	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	174	cd03255	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	255	cd03221	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	149	cd03247	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	cd03264	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	cd03259	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	146	cd03254	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03297	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	cd03229	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	309	cd03228	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	134	cd03299	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03253	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	146	cd03246	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	cd03230	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	cd03292	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03260	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	157	COG4778	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	134	cd03269	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	141	COG4136	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	198	COG1131	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	COG1136	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	COG0410	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	414	cd03257	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	143	COG2884	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	COG4619	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03251	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	139	cd03300	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	143	COG4133	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	160	cd03224	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	cd03248	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	181	cd03219	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	159	COG1116	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	485	COG1122	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	199	cd03233	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	COG3638	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	254	COG1124	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	418	COG3839	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	228	cd03213	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1389	COG1132	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	147	COG4161	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	cd03244	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	203	COG1120	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	512	COG4618	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	214	COG0396	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	155	cd03217	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	478	COG4988	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	147	cd03245	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	252	smart00382	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	822	COG4178	7262393,NP_000024
215	67476960	Disease	p.Glu609Lys	VAR_000082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000082	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	749	COG4608	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03290	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	263	cd03250	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	166	COG1121	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	217	COG1119	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	690	COG1123	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	cd03301	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	217	cd03214	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	168	cd03226	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1285	cd00267	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	187	cd03225	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	160	cd03235	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	158	COG1137	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03291	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	263	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	148	cd03268	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	cd03252	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03262	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	237	cd03223	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	182	cd03216	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	140	cd03231	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	278	cd03249	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	cd03293	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	cd03256	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	181	cd03255	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	262	cd03221	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	156	cd03247	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	168	cd03264	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	179	cd03259	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	153	cd03254	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	cd03297	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	196	cd03229	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	316	cd03228	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	141	cd03299	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170	cd03253	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	153	cd03246	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	179	cd03230	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	149	cd03292	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	cd03260	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	COG4778	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	141	cd03269	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	148	COG4136	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	205	COG1131	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	187	COG1136	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	COG0410	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	421	cd03257	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	150	COG2884	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	149	COG4619	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170	cd03251	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	146	cd03300	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	150	COG4133	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	167	cd03224	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	176	cd03248	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	cd03219	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	166	COG1116	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	492	COG1122	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	206	cd03233	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	168	COG3638	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	261	COG1124	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	427	COG3839	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	235	cd03213	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1396	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	COG4161	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	196	cd03244	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	COG1120	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	519	COG4618	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	221	COG0396	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	162	cd03217	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	485	COG4988	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03245	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	260	smart00382	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	829	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ala616Val	VAR_009383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009383	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	756	COG4608	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	cd03290	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	264	cd03250	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	167	COG1121	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	218	COG1119	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	691	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	cd03301	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	218	cd03214	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	cd03226	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1286	cd00267	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	cd03225	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	cd03235	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	159	COG1137	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	cd03291	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	264	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	149	cd03268	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	152	cd03252	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	cd03262	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	238	cd03223	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	183	cd03216	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	141	cd03231	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	279	cd03249	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	cd03293	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	165	cd03256	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	182	cd03255	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	263	cd03221	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	157	cd03247	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	cd03264	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	cd03259	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03254	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	162	cd03297	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	cd03229	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	317	cd03228	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	cd03299	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03253	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03246	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	cd03230	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	150	cd03292	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	179	cd03260	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	165	COG4778	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	cd03269	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	149	COG4136	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	COG1131	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	COG1136	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	COG0410	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	422	cd03257	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	COG2884	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	150	COG4619	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03251	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	147	cd03300	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	COG4133	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	168	cd03224	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	177	cd03248	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	cd03219	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	167	COG1116	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	493	COG1122	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	207	cd03233	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	COG3638	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	262	COG1124	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	428	COG3839	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	236	cd03213	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1397	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	155	COG4161	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	cd03244	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	COG1120	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	520	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	222	COG0396	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03217	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	486	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	155	cd03245	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	261	smart00382	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	830	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg617Cys	VAR_000083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000083	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	757	COG4608	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	cd03290	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	264	cd03250	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	167	COG1121	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	218	COG1119	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	691	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	cd03301	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	218	cd03214	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	cd03226	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1286	cd00267	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	cd03225	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	cd03235	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	159	COG1137	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	cd03291	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	264	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	149	cd03268	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	152	cd03252	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	cd03262	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	238	cd03223	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	183	cd03216	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	141	cd03231	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	279	cd03249	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	cd03293	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	165	cd03256	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	182	cd03255	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	263	cd03221	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	157	cd03247	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	cd03264	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	cd03259	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03254	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	162	cd03297	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	cd03229	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	317	cd03228	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	cd03299	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03253	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03246	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	cd03230	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	150	cd03292	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	179	cd03260	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	165	COG4778	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	cd03269	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	149	COG4136	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	COG1131	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	COG1136	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	COG0410	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	422	cd03257	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	COG2884	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	150	COG4619	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03251	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	147	cd03300	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	COG4133	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	168	cd03224	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	177	cd03248	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	cd03219	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	167	COG1116	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	493	COG1122	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	207	cd03233	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	COG3638	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	262	COG1124	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	428	COG3839	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	236	cd03213	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1397	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	155	COG4161	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	cd03244	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	COG1120	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	520	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	222	COG0396	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03217	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	486	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	155	cd03245	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	261	smart00382	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	830	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg617Gly	VAR_000084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000084	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	757	COG4608	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	cd03290	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	264	cd03250	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	167	COG1121	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	218	COG1119	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	691	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	cd03301	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	218	cd03214	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	cd03226	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1286	cd00267	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	cd03225	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	cd03235	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	159	COG1137	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	cd03291	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	264	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	149	cd03268	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	152	cd03252	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	cd03262	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	238	cd03223	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	183	cd03216	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	141	cd03231	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	279	cd03249	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	cd03293	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	165	cd03256	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	182	cd03255	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	263	cd03221	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	157	cd03247	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	cd03264	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	cd03259	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03254	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	162	cd03297	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	cd03229	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	317	cd03228	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	cd03299	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03253	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03246	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	cd03230	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	150	cd03292	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	179	cd03260	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	165	COG4778	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	142	cd03269	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	149	COG4136	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	COG1131	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	COG1136	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	COG0410	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	422	cd03257	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	COG2884	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	150	COG4619	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03251	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	147	cd03300	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	COG4133	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	168	cd03224	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	177	cd03248	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	cd03219	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	167	COG1116	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	493	COG1122	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	207	cd03233	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	COG3638	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	262	COG1124	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	428	COG3839	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	236	cd03213	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1397	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	155	COG4161	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	cd03244	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	COG1120	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	520	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	222	COG0396	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03217	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	486	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	155	cd03245	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	261	smart00382	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	830	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg617His	VAR_000085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000085	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	757	COG4608	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	173	cd03290	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	273	cd03250	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	176	COG1121	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	227	COG1119	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	700	COG1123	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	220	cd03301	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	235	cd03214	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	cd03226	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1309	cd00267	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	cd03225	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170	cd03235	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	COG1137	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	181	cd03291	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	276	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	158	cd03268	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	cd03252	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	173	cd03262	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	304	cd03223	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	198	cd03216	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	150	cd03231	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	288	cd03249	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	198	cd03293	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	174	cd03256	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	191	cd03255	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	273	cd03221	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	166	cd03247	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	cd03264	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	190	cd03259	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03254	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03297	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	206	cd03229	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	328	cd03228	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	cd03299	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	cd03253	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03246	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	191	cd03230	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	159	cd03292	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	cd03260	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	174	COG4778	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	cd03269	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	158	COG4136	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	221	COG1131	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	COG1136	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	181	COG0410	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	431	cd03257	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	160	COG2884	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	159	COG4619	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	cd03251	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	156	cd03300	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	160	COG4133	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	cd03224	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	186	cd03248	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	198	cd03219	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	176	COG1116	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	508	COG1122	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	217	cd03233	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	COG3638	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	271	COG1124	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	438	COG3839	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	245	cd03213	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1408	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	COG4161	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	208	cd03244	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	220	COG1120	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	529	COG4618	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	231	COG0396	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	cd03217	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	496	COG4988	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	cd03245	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	311	smart00382	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	839	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ala626Asp	VAR_013356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013356	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	766	COG4608	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	173	cd03290	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	273	cd03250	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	176	COG1121	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	227	COG1119	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	700	COG1123	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	220	cd03301	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	235	cd03214	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	cd03226	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1309	cd00267	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	cd03225	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170	cd03235	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	COG1137	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	181	cd03291	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	276	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	158	cd03268	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	cd03252	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	173	cd03262	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	304	cd03223	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	198	cd03216	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	150	cd03231	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	288	cd03249	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	198	cd03293	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	174	cd03256	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	191	cd03255	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	273	cd03221	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	166	cd03247	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	cd03264	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	190	cd03259	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03254	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03297	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	206	cd03229	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	328	cd03228	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	cd03299	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	cd03253	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03246	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	191	cd03230	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	159	cd03292	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	cd03260	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	174	COG4778	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	151	cd03269	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	158	COG4136	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	221	COG1131	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	COG1136	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	181	COG0410	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	431	cd03257	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	160	COG2884	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	159	COG4619	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	cd03251	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	156	cd03300	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	160	COG4133	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	cd03224	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	186	cd03248	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	198	cd03219	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	176	COG1116	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	508	COG1122	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	217	cd03233	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	COG3638	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	271	COG1124	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	438	COG3839	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	245	cd03213	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1408	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	COG4161	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	208	cd03244	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	220	COG1120	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	529	COG4618	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	231	COG0396	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	cd03217	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	496	COG4988	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	cd03245	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	311	smart00382	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	839	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ala626Thr	VAR_000086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000086	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	766	COG4608	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	176	cd03290	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	276	cd03250	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	179	COG1121	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	230	COG1119	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	703	COG1123	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	223	cd03301	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	238	cd03214	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	181	cd03226	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1312	cd00267	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	200	cd03225	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	173	cd03235	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	174	COG1137	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	184	cd03291	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	279	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	cd03268	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	cd03252	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	176	cd03262	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	307	cd03223	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	201	cd03216	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	153	cd03231	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	291	cd03249	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	201	cd03293	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	177	cd03256	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	194	cd03255	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	276	cd03221	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	cd03247	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	181	cd03264	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	193	cd03259	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	166	cd03254	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	174	cd03297	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	209	cd03229	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	331	cd03228	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03299	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	183	cd03253	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	166	cd03246	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	194	cd03230	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	162	cd03292	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	191	cd03260	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	177	COG4778	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03269	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	COG4136	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	224	COG1131	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	200	COG1136	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	184	COG0410	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	434	cd03257	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	COG2884	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	162	COG4619	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	183	cd03251	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	159	cd03300	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	COG4133	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	181	cd03224	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	cd03248	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	201	cd03219	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	179	COG1116	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	511	COG1122	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	220	cd03233	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	181	COG3638	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	274	COG1124	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	441	COG3839	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	248	cd03213	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1411	COG1132	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	167	COG4161	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	cd03244	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	223	COG1120	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	532	COG4618	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	234	COG0396	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	175	cd03217	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	499	COG4988	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	167	cd03245	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	314	smart00382	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	842	COG4178	7262393,NP_000024
215	67476960	Disease	p.Asp629His	VAR_000087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000087	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	769	COG4608	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	177	cd03290	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	277	cd03250	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	COG1121	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	231	COG1119	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	704	COG1123	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	224	cd03301	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	239	cd03214	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	182	cd03226	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1313	cd00267	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	201	cd03225	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	174	cd03235	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	175	COG1137	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	185	cd03291	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	280	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	162	cd03268	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	165	cd03252	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	177	cd03262	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	308	cd03223	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	202	cd03216	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	154	cd03231	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	292	cd03249	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	202	cd03293	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	cd03256	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	195	cd03255	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	277	cd03221	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170	cd03247	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	182	cd03264	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	194	cd03259	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	167	cd03254	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	175	cd03297	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	cd03229	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	332	cd03228	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	155	cd03299	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	184	cd03253	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	167	cd03246	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	195	cd03230	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03292	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	192	cd03260	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	COG4778	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	155	cd03269	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	162	COG4136	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	225	COG1131	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	201	COG1136	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	185	COG0410	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	435	cd03257	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	COG2884	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	COG4619	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	184	cd03251	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	160	cd03300	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	COG4133	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	182	cd03224	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	190	cd03248	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	202	cd03219	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	COG1116	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	512	COG1122	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	221	cd03233	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	182	COG3638	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	275	COG1124	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	442	COG3839	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	249	cd03213	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1412	COG1132	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	168	COG4161	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	212	cd03244	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	224	COG1120	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	533	COG4618	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	235	COG0396	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	176	cd03217	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	500	COG4988	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	168	cd03245	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	315	smart00382	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	843	COG4178	7262393,NP_000024
215	67476960	Disease	p.Glu630Gly	VAR_009384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009384	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	770	COG4608	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	cd03290	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	278	cd03250	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	181	COG1121	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	232	COG1119	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	705	COG1123	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	225	cd03301	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	240	cd03214	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	183	cd03226	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1314	cd00267	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	202	cd03225	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	175	cd03235	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	176	COG1137	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	186	cd03291	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	281	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	204	cd03268	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	166	cd03252	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	cd03262	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	309	cd03223	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	203	cd03216	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	155	cd03231	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	293	cd03249	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	203	cd03293	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	179	cd03256	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	196	cd03255	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	278	cd03221	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03247	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	183	cd03264	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	195	cd03259	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	168	cd03254	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	176	cd03297	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	cd03229	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	333	cd03228	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	156	cd03299	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	185	cd03253	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	168	cd03246	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	196	cd03230	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	cd03292	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	193	cd03260	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	179	COG4778	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	156	cd03269	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	COG4136	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	226	COG1131	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	202	COG1136	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	186	COG0410	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	436	cd03257	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	165	COG2884	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	COG4619	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	185	cd03251	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	cd03300	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	165	COG4133	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	183	cd03224	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	191	cd03248	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	203	cd03219	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	181	COG1116	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	513	COG1122	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	222	cd03233	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	183	COG3638	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	276	COG1124	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	443	COG3839	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	250	cd03213	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1413	COG1132	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	COG4161	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	213	cd03244	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	225	COG1120	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	534	COG4618	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	236	COG0396	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	177	cd03217	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	501	COG4988	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	cd03245	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	317	smart00382	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	844	COG4178	7262393,NP_000024
215	67476960	Disease	p.Cys631Tyr	VAR_009385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009385	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	771	COG4608	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	179	cd03290	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	279	cd03250	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	182	COG1121	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	233	COG1119	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	706	COG1123	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	226	cd03301	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	241	cd03214	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	184	cd03226	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1315	cd00267	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	203	cd03225	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	176	cd03235	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	177	COG1137	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	187	cd03291	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	282	pfam00005	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	205	cd03268	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	167	cd03252	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	179	cd03262	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	310	cd03223	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	204	cd03216	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	156	cd03231	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	294	cd03249	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	204	cd03293	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	cd03256	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	cd03255	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	279	cd03221	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	cd03247	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	184	cd03264	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	196	cd03259	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	cd03254	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	177	cd03297	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	212	cd03229	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	334	cd03228	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	157	cd03299	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	186	cd03253	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	169	cd03246	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	cd03230	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	165	cd03292	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	194	cd03260	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	COG4778	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	157	cd03269	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	COG4136	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	227	COG1131	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	203	COG1136	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	187	COG0410	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	437	cd03257	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	166	COG2884	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	165	COG4619	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	186	cd03251	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	162	cd03300	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	166	COG4133	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	184	cd03224	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	192	cd03248	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	204	cd03219	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	182	COG1116	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	514	COG1122	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	223	cd03233	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	184	COG3638	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	277	COG1124	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	444	COG3839	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	251	cd03213	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1414	COG1132	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170	COG4161	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	214	cd03244	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	226	COG1120	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	535	COG4618	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	237	COG0396	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	cd03217	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	502	COG4988	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170	cd03245	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	318	smart00382	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	845	COG4178	7262393,NP_000024
215	67476960	Disease	p.Thr632Ile	VAR_013357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013357	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	772	COG4608	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	cd03290	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	280	cd03250	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	183	COG1121	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	234	COG1119	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	707	COG1123	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	227	cd03301	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	242	cd03214	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	185	cd03226	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1316	cd00267	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	204	cd03225	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	176_G	cd03235	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	COG1137	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	cd03291	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	206	cd03268	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	168	cd03252	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	cd03262	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	311	cd03223	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	205	cd03216	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	156_G	cd03231	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	295	cd03249	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	205	cd03293	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	181	cd03256	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	198	cd03255	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	280	cd03221	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172_G	cd03247	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	200	cd03264	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	cd03259	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170	cd03254	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	cd03297	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	213	cd03229	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	335	cd03228	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	158	cd03299	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	187	cd03253	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170	cd03246	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	198	cd03230	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170	cd03292	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	195	cd03260	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	COG4778	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	158	cd03269	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	165	COG4136	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	232	COG1131	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	209	COG1136	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	COG0410	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	438	cd03257	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	167	COG2884	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	166	COG4619	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	187	cd03251	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03300	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	167	COG4133	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	185	cd03224	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	193	cd03248	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	208	cd03219	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	183	COG1116	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	515	COG1122	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	228	cd03233	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	185	COG3638	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	278	COG1124	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	445	COG3839	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	252	cd03213	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1415	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	COG4161	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	215	cd03244	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	227	COG1120	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	536	COG4618	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	238	COG0396	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	179	cd03217	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	503	COG4988	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03245	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	319	smart00382	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	846	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ser633Ile	VAR_013358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013358	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	773	COG4608	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	cd03290	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	280	cd03250	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	183	COG1121	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	234	COG1119	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	707	COG1123	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	227	cd03301	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	242	cd03214	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	185	cd03226	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1316	cd00267	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	204	cd03225	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	176_G	cd03235	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	COG1137	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	cd03291	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	206	cd03268	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	168	cd03252	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	cd03262	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	311	cd03223	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	205	cd03216	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	156_G	cd03231	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	295	cd03249	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	205	cd03293	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	181	cd03256	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	198	cd03255	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	280	cd03221	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172_G	cd03247	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	200	cd03264	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	cd03259	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170	cd03254	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	cd03297	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	213	cd03229	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	335	cd03228	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	158	cd03299	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	187	cd03253	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170	cd03246	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	198	cd03230	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170	cd03292	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	195	cd03260	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	COG4778	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	158	cd03269	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	165	COG4136	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	232	COG1131	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	209	COG1136	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	COG0410	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	438	cd03257	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	167	COG2884	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	166	COG4619	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	187	cd03251	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03300	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	167	COG4133	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	185	cd03224	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	193	cd03248	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	208	cd03219	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	183	COG1116	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	515	COG1122	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	228	cd03233	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	185	COG3638	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	278	COG1124	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	445	COG3839	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	252	cd03213	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1415	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	COG4161	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	215	cd03244	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	227	COG1120	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	536	COG4618	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	238	COG0396	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	179	cd03217	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	503	COG4988	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03245	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	319	smart00382	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	846	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ser633Arg	VAR_009386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009386	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	773	COG4608	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	182	cd03290	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	282	cd03250	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	185	COG1121	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	236	COG1119	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	713	COG1123	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	235	cd03301	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	244	cd03214	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	190	cd03226	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1318	cd00267	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	209	cd03225	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	177	cd03235	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	COG1137	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	190	cd03291	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	208	cd03268	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170	cd03252	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	186	cd03262	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	313	cd03223	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	207	cd03216	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	157	cd03231	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	297	cd03249	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	207	cd03293	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	183	cd03256	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	200	cd03255	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	281_G	cd03221	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	173	cd03247	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	202	cd03264	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	203	cd03259	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170_G	cd03254	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	184	cd03297	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	218	cd03229	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	337	cd03228	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	160	cd03299	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	cd03253	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	cd03246	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	200	cd03230	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	cd03292	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	cd03260	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	190	COG4778	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03269	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	COG4136	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	234	COG1131	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	COG1136	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	190	COG0410	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	440	cd03257	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	173	COG2884	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	168	COG4619	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	cd03251	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	201	cd03300	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	168_G	COG4133	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	187	cd03224	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	194_G	cd03248	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	cd03219	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	COG1116	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	517	COG1122	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	230	cd03233	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	185_G	COG3638	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	280	COG1124	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	447	COG3839	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	258	cd03213	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1417	COG1132	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	173	COG4161	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	217	cd03244	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	229	COG1120	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	536_G	COG4618	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	243	COG0396	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	184	cd03217	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	505	COG4988	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	173	cd03245	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	321	smart00382	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	848	COG4178	7262393,NP_000024
215	67476960	Disease	p.Val635Met	VAR_013359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013359	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	775	COG4608	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	183	cd03290	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	283	cd03250	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	185_G	COG1121	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	236_G	COG1119	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	714	COG1123	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	236	cd03301	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	249	cd03214	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	191	cd03226	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1319	cd00267	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	cd03225	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	178	cd03235	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	184	COG1137	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	191	cd03291	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	209	cd03268	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03252	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	187	cd03262	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	314	cd03223	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	208	cd03216	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	158	cd03231	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	298	cd03249	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	212	cd03293	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	cd03256	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	205	cd03255	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	281_G	cd03221	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	174	cd03247	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	203	cd03264	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	204	cd03259	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03254	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	185	cd03297	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	219	cd03229	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	338	cd03228	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	161	cd03299	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	190	cd03253	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	173	cd03246	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	200_G	cd03230	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	173	cd03292	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	202	cd03260	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	191	COG4778	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	164	cd03269	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	172	COG4136	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	235	COG1131	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	212	COG1136	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	191	COG0410	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	441	cd03257	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	174	COG2884	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	173	COG4619	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189_G	cd03251	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	202	cd03300	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	168_G	COG4133	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	cd03224	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	194_G	cd03248	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	cd03219	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	190	COG1116	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	518	COG1122	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	231	cd03233	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	186	COG3638	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	281	COG1124	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	448	COG3839	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	259	cd03213	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1418	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	174	COG4161	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	218	cd03244	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	234	COG1120	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	537	COG4618	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	244	COG0396	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	185	cd03217	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	506	COG4988	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	174	cd03245	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	322	smart00382	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	849	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ser636Ile	VAR_009387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009387	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	776	COG4608	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	185	cd03290	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	285	cd03250	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	186	COG1121	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	237	COG1119	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	716	COG1123	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	238	cd03301	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	251	cd03214	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	193	cd03226	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1321	cd00267	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	212	cd03225	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	180	cd03235	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	186	COG1137	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	193	cd03291	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	cd03268	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	173	cd03252	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	189	cd03262	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	316	cd03223	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	cd03216	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	160	cd03231	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	300	cd03249	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	214	cd03293	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	190	cd03256	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	207	cd03255	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	283	cd03221	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	176	cd03247	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	205	cd03264	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	206	cd03259	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	173	cd03254	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	187	cd03297	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	221	cd03229	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	340	cd03228	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	163	cd03299	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	192	cd03253	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	175	cd03246	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	201	cd03230	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	175	cd03292	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	204	cd03260	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	193	COG4778	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	166	cd03269	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	174	COG4136	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	237	COG1131	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	214	COG1136	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	193	COG0410	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	443	cd03257	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	176	COG2884	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	175	COG4619	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	190	cd03251	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	206	cd03300	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170	COG4133	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	190	cd03224	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	196	cd03248	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	213	cd03219	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	192	COG1116	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	520	COG1122	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	233	cd03233	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188	COG3638	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	283	COG1124	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	455	COG3839	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	261	cd03213	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1420	COG1132	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	176	COG4161	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	220	cd03244	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	236	COG1120	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	539	COG4618	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	246	COG0396	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	187	cd03217	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	508	COG4988	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	176	cd03245	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	329	smart00382	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	851	COG4178	7262393,NP_000024
215	67476960	Disease	p.Asp638Tyr	VAR_009388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009388	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	778	COG4608	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	192_G	cd03290	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	299	cd03250	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	199	COG1121	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	250	COG1119	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	724	COG1123	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	246	cd03301	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	259	cd03214	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	201	cd03226	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1337	cd00267	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	220	cd03225	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	193	cd03235	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	194	COG1137	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	201	cd03291	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	218	cd03268	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	181	cd03252	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	cd03262	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	324	cd03223	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	221	cd03216	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	170	cd03231	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	311	cd03249	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	222	cd03293	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	198	cd03256	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	215	cd03255	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	293	cd03221	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	190	cd03247	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	237	cd03264	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	214	cd03259	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	182	cd03254	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	195	cd03297	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	229	cd03229	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	349	cd03228	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	171	cd03299	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	200	cd03253	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	183	cd03246	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	215	cd03230	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	182	cd03292	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	212	cd03260	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	COG4778	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	174	cd03269	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	182	COG4136	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	245	COG1131	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	222	COG1136	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	201	COG0410	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	454	cd03257	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	183	COG2884	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	183	COG4619	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	199	cd03251	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	231	cd03300	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	184	COG4133	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	198	cd03224	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	223	cd03248	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	221	cd03219	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	200	COG1116	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	528	COG1122	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	241	cd03233	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	202	COG3638	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	295	COG1124	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	464	COG3839	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	269	cd03213	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1428	COG1132	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	184	COG4161	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	228	cd03244	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	244	COG1120	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	552	COG4618	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	254	COG0396	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	195	cd03217	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	516	COG4988	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	184	cd03245	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	350	smart00382	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	859	COG4178	7262393,NP_000024
215	67476960	Disease	p.Ala646Pro	VAR_009389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009389	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	789	COG4608	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	cd03290	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	310	cd03250	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	208	COG1121	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	260	COG1119	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	732	COG1123	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	254	cd03301	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	267	cd03214	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	209	cd03226	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1350	cd00267	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	231	cd03225	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	202	cd03235	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	213	COG1137	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	213	cd03291	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	191	cd03252	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	205	cd03262	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	334	cd03223	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	230	cd03216	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	182	cd03231	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	322	cd03249	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	233	cd03293	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	cd03256	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	224	cd03255	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	306	cd03221	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	196	cd03247	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	223	cd03259	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	186	cd03254	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	203	cd03297	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	238	cd03229	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	368	cd03228	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	183	cd03299	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	217	cd03253	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	194	cd03246	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	225	cd03230	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	190	cd03292	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	223	cd03260	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	205	COG4778	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	182	cd03269	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	190	COG4136	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	254	COG1131	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	230	COG1136	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	COG0410	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	464	cd03257	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	191	COG2884	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	193	COG4619	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	cd03251	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	192	COG4133	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	cd03224	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	263	cd03248	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	231	cd03219	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	COG1116	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	540	COG1122	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	249	cd03233	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	COG3638	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	303	COG1124	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	496	COG3839	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	299	cd03213	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1447	COG1132	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	195	COG4161	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	239	cd03244	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	252	COG1120	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	560	COG4618	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	273	COG0396	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	219	cd03217	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	527	COG4988	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	195	cd03245	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	607	smart00382	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	869	COG4178	7262393,NP_000024
215	67476960	Disease	p.Leu654Pro	VAR_009390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009390	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	798	COG4608	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	203	cd03290	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	315	cd03250	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	214	COG1121	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	266	COG1119	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	738	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	268	cd03301	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	273	cd03214	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	215	cd03226	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1356	cd00267	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	237	cd03225	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	208	cd03235	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	219	COG1137	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	219	cd03291	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	cd03252	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	340	cd03223	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	236	cd03216	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	187	cd03231	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	328	cd03249	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	262	cd03293	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	216	cd03256	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	230	cd03255	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	312	cd03221	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	202	cd03247	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	229	cd03259	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	199	cd03254	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	209	cd03297	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	244	cd03229	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	374	cd03228	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188_G	cd03299	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	223	cd03253	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	200	cd03246	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	231	cd03230	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	196	cd03292	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	229	cd03260	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	COG4778	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	200	COG4136	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	260	COG1131	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	236	COG1136	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	230	COG0410	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	470	cd03257	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	COG2884	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	199	COG4619	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	216	cd03251	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	COG4133	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	227	cd03224	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	269	cd03248	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	269	cd03219	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	227	COG1116	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	546	COG1122	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	255	cd03233	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	216	COG3638	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	309	COG1124	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	561	COG3839	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	305	cd03213	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1453	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	201	COG4161	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	245	cd03244	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	258	COG1120	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	566	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	279	COG0396	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	225	cd03217	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	533	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	201	cd03245	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	620	smart00382	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	875	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg660Pro	VAR_013360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013360	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	804	COG4608	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	203	cd03290	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	315	cd03250	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	214	COG1121	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	266	COG1119	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	738	COG1123	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	268	cd03301	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	273	cd03214	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	215	cd03226	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1356	cd00267	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	237	cd03225	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	208	cd03235	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	219	COG1137	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	219	cd03291	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	cd03252	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	340	cd03223	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	236	cd03216	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	187	cd03231	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	328	cd03249	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	262	cd03293	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	216	cd03256	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	230	cd03255	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	312	cd03221	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	202	cd03247	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	229	cd03259	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	199	cd03254	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	209	cd03297	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	244	cd03229	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	374	cd03228	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188_G	cd03299	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	223	cd03253	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	200	cd03246	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	231	cd03230	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	196	cd03292	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	229	cd03260	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	COG4778	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	200	COG4136	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	260	COG1131	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	236	COG1136	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	230	COG0410	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	470	cd03257	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	COG2884	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	199	COG4619	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	216	cd03251	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	197	COG4133	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	227	cd03224	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	269	cd03248	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	269	cd03219	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	227	COG1116	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	546	COG1122	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	255	cd03233	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	216	COG3638	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	309	COG1124	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	561	COG3839	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	305	cd03213	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1453	COG1132	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	201	COG4161	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	245	cd03244	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	258	COG1120	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	566	COG4618	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	279	COG0396	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	225	cd03217	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	533	COG4988	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	201	cd03245	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	620	smart00382	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	875	COG4178	7262393,NP_000024
215	67476960	Disease	p.Arg660Trp	VAR_000089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000089	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	804	COG4608	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	209	cd03290	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	327	cd03250	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	224	COG1121	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	274	COG1119	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	747	COG1123	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	274	cd03301	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	281	cd03214	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	224	cd03226	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1363	cd00267	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	244	cd03225	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	215	cd03235	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	226	COG1137	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	226	cd03291	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	204	cd03252	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	353	cd03223	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	238_G	cd03216	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188_G	cd03231	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	336	cd03249	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	271	cd03293	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	224	cd03256	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	239	cd03255	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	319	cd03221	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	209	cd03247	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	248	cd03259	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	223	cd03254	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	217	cd03297	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	252	cd03229	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	383	cd03228	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	194	cd03299	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	248	cd03253	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	207	cd03246	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	249	cd03230	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	203	cd03292	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	263	cd03260	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	218	COG4778	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	267	COG1131	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	244	COG1136	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	230_G	COG0410	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	479	cd03257	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	204	COG2884	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	206	COG4619	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	204	COG4133	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	227_G	cd03224	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	275	cd03248	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	234	COG1116	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	554	COG1122	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	262	cd03233	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	223	COG3638	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	316	COG1124	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	568	COG3839	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	317	cd03213	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1462	COG1132	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	209	COG4161	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	266	COG1120	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	573	COG4618	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	286	COG0396	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	237	cd03217	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	540	COG4988	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	203_G	cd03245	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	651	smart00382	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	882	COG4178	7262393,NP_000024
215	67476960	Disease	p.His667Asp	VAR_009391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009391	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	811	COG4608	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	cd03290	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	328	cd03250	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	225	COG1121	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	275	COG1119	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	748	COG1123	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	275	cd03301	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	282	cd03214	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	225	cd03226	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1374	cd00267	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	247	cd03225	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	216	cd03235	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	227	COG1137	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	227	cd03291	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	205	cd03252	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	354	cd03223	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	238_G	cd03216	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	188_G	cd03231	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	337	cd03249	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	272	cd03293	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	225	cd03256	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	240	cd03255	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	322	cd03221	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	cd03247	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	249	cd03259	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	224	cd03254	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	218	cd03297	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	253	cd03229	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	384	cd03228	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	195	cd03299	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	249	cd03253	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	208	cd03246	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	250	cd03230	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	204	cd03292	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	264	cd03260	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	219	COG4778	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	269	COG1131	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	245	COG1136	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	231	COG0410	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	480	cd03257	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	206	COG2884	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	207	COG4619	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	204_G	COG4133	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	228	cd03224	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	276	cd03248	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	234_G	COG1116	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	555	COG1122	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	263	cd03233	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	224	COG3638	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	317	COG1124	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	569	COG3839	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	318	cd03213	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1463	COG1132	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	210	COG4161	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	267	COG1120	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	574	COG4618	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	287	COG0396	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	239	cd03217	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	541	COG4988	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	203_G	cd03245	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	652	smart00382	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	883	COG4178	7262393,NP_000024
215	67476960	Disease	p.Thr668Ile	VAR_009392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009392	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	812	COG4608	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	221	cd03290	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	236	COG1121	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	286	COG1119	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	756_G	COG1123	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	324	cd03214	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	250	COG1137	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	238	cd03291	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	220	cd03252	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	258	cd03216	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	195_G	cd03231	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	376	cd03249	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	239_G	cd03256	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	213	cd03299	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	257_G	cd03253	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	231	COG4778	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	301	COG1131	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	270	COG1136	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	239	COG0410	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	211	COG4619	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	214_G	COG4133	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	245	cd03224	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	246	COG1116	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	658	COG1122	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	243	COG3638	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	336	COG1124	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	580	COG3839	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	1491	COG1132	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	219	COG4161	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	310	COG1120	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	589	COG4618	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	321	COG0396	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	555_G	COG4988	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	670	smart00382	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	897	COG4178	7262393,NP_000024
215	67476960	Disease	p.Trp679Arg	VAR_000090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000090	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	836	COG4608	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	250	COG1121	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	773	COG1123	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	246	cd03291	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	235	cd03252	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	202	cd03231	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	392	cd03249	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	245	cd03256	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	413	COG1131	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	251	COG0410	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	227	COG4619	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	260	COG1116	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	716	COG1122	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	264	COG3638	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	351	COG1124	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	625	COG3839	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	233	COG4161	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	324	COG1120	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	618	COG4618	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	571	COG4988	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	911	COG4178	7262393,NP_000024
215	67476960	Disease	p.Thr693Met	VAR_009393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009393	- Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]	SWISS	860	COG4608	7262393,NP_000024
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	125	COG3839	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	102	COG0396	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	117	cd03216	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	91	cd03236	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	141	COG1119	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	99	COG1125	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	104	cd03222	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	98_G	cd03247	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	145	COG1120	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	108	smart00382	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	116	COG1117	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	141	COG1131	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	102	pfam00005	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	222	cd03215	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	95	cd03254	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	110	cd03260	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	104	cd03256	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	113	cd03253	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	130	COG0411	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	99	COG2884	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	110	cd03262	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	108	cd03244	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	96	cd03218	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	172	cd03249	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	125	cd03293	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	90	cd03269	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	98	cd03261	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	112	COG0410	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	97	cd03251	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	118	COG1127	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	147	cd03263	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	125	cd03230	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	90	cd03299	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	116	cd03264	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	124	cd03259	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	104	cd03221	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	108	cd03290	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	435	COG1122	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	115	COG3842	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	127	cd03294	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	115	cd03213	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	106	cd03248	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	100	cd03369	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	101	COG1101	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	96	cd03268	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	95	cd03252	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	112	COG4674	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	137	cd03229	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	99	COG4525	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	117	cd03267	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	109	COG4778	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	109	COG4181	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	117	COG4167	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	256	COG0444	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	116	cd03291	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	125	COG1129	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	92	cd03265	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	89_G	COG4138	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	102	cd03219	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	90	COG3840	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	99	COG4133	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	101	COG1137	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	95	COG4148	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	107	cd03297	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	92	cd03231	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	140	cd03223	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	98	cd03217	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	124	cd03220	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	196	cd03250	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	107_G	COG3638	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	116	COG0488	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	95	COG4619	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	105	COG1116	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	118	cd03255	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	97	COG4136	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	89	cd03298	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	97	cd03246	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	119	cd03226	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	221	cd03227	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	95	cd03295	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	94	cd03296	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	94	COG4559	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	98	COG4555	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	116	COG1118	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	94	COG4604	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	102	COG1121	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	95	cd03300	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	123	COG1136	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	102	COG4161	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	113	COG1135	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	110	cd03258	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	107	cd03266	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	154	cd03214	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	97	cd03235	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	118	COG1124	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	240	cd00267	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	214	cd03228	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	134	cd03225	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	116	cd03233	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	110	cd03232	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	123	cd03234	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	112	COG4598	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	111	COG4107	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	106	cd03224	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	118	COG1126	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	140	COG4586	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	700	COG4608	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	120	cd03301	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	268	cd03257	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	98	cd03292	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	98	cd03245	11967969,NP_071881
64240	17432917	Disease	p.Glu146Gln	VAR_012244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012244	- Sitosterolemia [MIM:210250]	SWISS	162	COG1123	11967969,NP_071881
64240	17432917	Disease	p.Arg389His	VAR_012245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012245	- Sitosterolemia [MIM:210250]	SWISS	35	pfam01061	11967969,NP_071881
64240	17432917	Disease	p.Arg389His	VAR_012245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012245	- Sitosterolemia [MIM:210250]	SWISS	493	COG1129	11967969,NP_071881
64240	17432917	Disease	p.Arg389His	VAR_012245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012245	- Sitosterolemia [MIM:210250]	SWISS	479	COG0488	11967969,NP_071881
64240	17432917	Disease	p.Arg389His	VAR_012245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012245	- Sitosterolemia [MIM:210250]	SWISS	557	COG1123	11967969,NP_071881
64240	17432917	Disease	p.Arg419His	VAR_012246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012246	- Sitosterolemia [MIM:210250]	SWISS	75	pfam01061	11967969,NP_071881
64240	17432917	Disease	p.Arg419His	VAR_012246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012246	- Sitosterolemia [MIM:210250]	SWISS	573	COG1129	11967969,NP_071881
64240	17432917	Disease	p.Arg419His	VAR_012246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012246	- Sitosterolemia [MIM:210250]	SWISS	565	COG0488	11967969,NP_071881
64240	17432917	Disease	p.Arg419His	VAR_012246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012246	- Sitosterolemia [MIM:210250]	SWISS	613	COG1123	11967969,NP_071881
64240	17432917	Disease	p.Arg419Pro	VAR_012247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012247	- Sitosterolemia [MIM:210250]	SWISS	75	pfam01061	11967969,NP_071881
64240	17432917	Disease	p.Arg419Pro	VAR_012247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012247	- Sitosterolemia [MIM:210250]	SWISS	573	COG1129	11967969,NP_071881
64240	17432917	Disease	p.Arg419Pro	VAR_012247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012247	- Sitosterolemia [MIM:210250]	SWISS	565	COG0488	11967969,NP_071881
64240	17432917	Disease	p.Arg419Pro	VAR_012247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012247	- Sitosterolemia [MIM:210250]	SWISS	613	COG1123	11967969,NP_071881
64240	17432917	Disease	p.Asn437Lys	VAR_020781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020781	- Sitosterolemia [MIM:210250]	SWISS	110	pfam01061	11967969,NP_071881
64240	17432917	Disease	p.Asn437Lys	VAR_020781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020781	- Sitosterolemia [MIM:210250]	SWISS	604	COG1129	11967969,NP_071881
64240	17432917	Disease	p.Asn437Lys	VAR_020781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020781	- Sitosterolemia [MIM:210250]	SWISS	615	COG0488	11967969,NP_071881
64240	17432917	Disease	p.Asn437Lys	VAR_020781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020781	- Sitosterolemia [MIM:210250]	SWISS	716	COG1123	11967969,NP_071881
64240	17432917	Disease	p.Arg550Ser	VAR_012248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012248	- Sitosterolemia [MIM:210250]	SWISS	257	pfam01061	11967969,NP_071881
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	128	COG4778	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	108	COG4148	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	136	COG1118	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	119	COG4161	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	115	COG4133	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	111	cd03295	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	106	cd03299	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	142	cd03259	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	450	COG1122	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	123	COG1101	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	151	COG1136	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	153	cd03223	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	236	cd03249	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	107	COG4152	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	113	cd03268	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	108	cd03265	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	156	COG4586	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	217	COG1124	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	105	cd03254	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	115	cd03292	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	130	cd03224	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	133	COG0410	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	108	cd03245	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	111	cd03300	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	163	cd03263	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	233	cd03228	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	182	COG1119	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	138_G	COG1127	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	134	COG3638	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	107	COG3840	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	116	cd03261	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	241	cd03215	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	114	COG4619	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	286	cd03257	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	105	cd03298	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	129	cd03232	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	114	cd03252	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	154	cd03229	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	195	pfam00005	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	142	cd03234	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	131	cd03244	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	189	COG1123	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	123	COG1137	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	125	cd03256	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	107	cd03246	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	137	cd03271	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	112	COG4604	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	436	COG0444	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	108	cd03247	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	125_G	cd03266	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	180	cd03214	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	126	cd03297	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	126	cd03235	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	150	cd03225	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	147	cd03216	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	133	cd03253	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	124	cd03251	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	135	COG1126	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	115	COG1125	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	127	cd03262	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	129	COG1121	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	344	COG3842	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	111	COG4559	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	141	COG1134	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	371	COG3839	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	180	COG0411	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	152	cd03293	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	128	cd03258	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	139	cd03260	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	1241	cd00267	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	143	cd03294	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	140	cd03220	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	126_G	cd03267	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	190	cd03250	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	126	COG4598	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	143	COG1135	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	138	cd03248	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	115_G	COG2884	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	165	COG1131	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	134	cd03213	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	175	cd03301	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	114	cd03296	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	223	cd03221	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	134	cd03233	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	131_G	COG4181	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	115	COG4525	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	108	COG4138	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	140	COG1117	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	128	COG1116	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	120	cd03290	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	114	COG4555	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	156	COG1129	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	167	COG1120	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	130	cd03226	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	134	COG4674	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	141	cd03230	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	143	cd03255	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	108	cd03217	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	133	cd03264	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	108	cd03269	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	113	COG4136	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	118	cd03218	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	135	COG0396	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	108_G	cd03231	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	152	cd03219	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	718	COG4608	11967971,NP_071882
64241	17432916	Disease	p.Arg184His	VAR_012252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012252	- Sitosterolemia [MIM:210250]	SWISS	151	COG4175	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	171	COG4778	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	151	COG4148	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	180	COG1118	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	161	COG4161	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	157	COG4133	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	155	cd03295	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	148	cd03299	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	187	cd03259	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	505	COG1122	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	167	COG1101	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	194	COG1136	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	301	cd03223	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	285	cd03249	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	149	COG4152	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	155	cd03268	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	150	cd03265	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	198	COG4586	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	268	COG1124	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	160	cd03254	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	156	cd03292	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	175	cd03224	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	178	COG0410	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	161	cd03245	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	153	cd03300	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	218	cd03263	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	325	cd03228	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	224	COG1119	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	179	COG1127	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	175	COG3638	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	148	COG3840	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	160	cd03261	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	323	cd03215	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	156	COG4619	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	428	cd03257	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	147	cd03298	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	190	cd03232	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	158	cd03252	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	203	cd03229	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	270	pfam00005	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	196	cd03234	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	205	cd03244	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	268	COG1123	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	168	COG1137	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	171	cd03256	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	160	cd03246	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	249	cd03271	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	154	COG4604	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	481	COG0444	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	163	cd03247	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	165	cd03266	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	232	cd03214	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	168	cd03297	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	167	cd03235	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	194	cd03225	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	195	cd03216	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	177	cd03253	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	177	cd03251	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	178	COG1126	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	161	COG1125	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	170	cd03262	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	173	COG1121	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	389	COG3842	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	156	COG4559	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	183	COG1134	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	434	COG3839	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	222	COG0411	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	195	cd03293	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	170	cd03258	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	185	cd03260	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	1306	cd00267	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	185	cd03294	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	186	cd03220	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	175	cd03267	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	270	cd03250	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	172	COG4598	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	186	COG1135	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	183	cd03248	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	157	COG2884	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	217	COG1131	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	242	cd03213	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	217	cd03301	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	156	cd03296	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	270	cd03221	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	213	cd03233	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	168	COG4181	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	158	COG4525	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	151	COG4138	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	192	COG1117	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	173	COG1116	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	170	cd03290	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	156	COG4555	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	205	COG1129	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	217	COG1120	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	175	cd03226	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	178	COG4674	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	188	cd03230	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	188	cd03255	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	169	cd03217	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	175	cd03264	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	148	cd03269	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	155	COG4136	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	163	cd03218	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	228	COG0396	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	147	cd03231	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	195	cd03219	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	763	COG4608	11967971,NP_071882
64241	17432916	Disease	p.Pro231Thr	VAR_012253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012253	- Sitosterolemia [MIM:210250]	SWISS	193	COG4175	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	202	COG4778	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	202	COG4148	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	213	COG1118	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	193	COG4161	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	189	COG4133	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	188	cd03295	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	180	cd03299	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	220	cd03259	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	538	COG1122	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	218	COG1101	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	228	COG1136	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	333	cd03223	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	320	cd03249	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	181	COG4152	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	188	cd03268	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	183	cd03265	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	230	COG4586	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	300	COG1124	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	223	cd03254	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	188	cd03292	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	209	cd03224	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	210	COG0410	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	193	cd03245	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	174	cd03300	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	274	cd03263	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	366	cd03228	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	259	COG1119	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	220	COG1127	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	208	COG3638	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	182	COG3840	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	210	cd03261	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	356	cd03215	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	191	COG4619	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	463	cd03257	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	179	cd03298	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	223	cd03232	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	189	cd03252	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	236	cd03229	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	301	cd03234	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	237	cd03244	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	306	COG1123	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	201	COG1137	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	208	cd03256	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	193	cd03246	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	287	cd03271	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	187	COG4604	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	516	COG0444	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	195	cd03247	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	200	cd03266	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	265	cd03214	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	201	cd03297	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	200	cd03235	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	230	cd03225	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	228	cd03216	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	215	cd03253	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	208	cd03251	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	237	COG1126	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	193	COG1125	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	221	cd03262	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	206	COG1121	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	422	COG3842	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	195	COG4559	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	216	COG1134	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	476	COG3839	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	256	COG0411	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	249	cd03293	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	202	cd03258	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	222	cd03260	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	1348	cd00267	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	217	cd03294	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	219	cd03220	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	207	cd03267	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	307	cd03250	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	204	COG4598	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	218	COG1135	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	261	cd03248	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	186	COG2884	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	252	COG1131	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	297	cd03213	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	249	cd03301	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	188	cd03296	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	318	cd03221	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	246	cd03233	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	202	COG4181	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	192	COG4525	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	189	COG4138	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	225	COG1117	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	235	COG1116	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	204	cd03290	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	188	COG4555	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	244	COG1129	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	250	COG1120	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	208	cd03226	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	210	COG4674	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	223	cd03230	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	222	cd03255	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	217	cd03217	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	207	cd03264	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	180	cd03269	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	188	COG4136	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	196	cd03218	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	271	COG0396	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	179	cd03231	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	230	cd03219	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	797	COG4608	11967971,NP_071882
64241	17432916	Disease	p.Arg263Gln	VAR_012256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012256	- Sitosterolemia [MIM:210250]	SWISS	252	COG4175	11967971,NP_071882
64241	17432916	Disease	p.Arg405His	VAR_012258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012258	- Sitosterolemia [MIM:210250]	SWISS	578	COG1123	11967971,NP_071882
64241	17432916	Disease	p.Arg405His	VAR_012258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012258	- Sitosterolemia [MIM:210250]	SWISS	9	pfam01061	11967971,NP_071882
64241	17432916	Disease	p.Arg405His	VAR_012258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012258	- Sitosterolemia [MIM:210250]	SWISS	599	COG3842	11967971,NP_071882
64241	17432916	Disease	p.Arg405His	VAR_012258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012258	- Sitosterolemia [MIM:210250]	SWISS	713	COG3839	11967971,NP_071882
64241	17432916	Disease	p.Arg405His	VAR_012258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012258	- Sitosterolemia [MIM:210250]	SWISS	551	COG1129	11967971,NP_071882
64241	17432916	Disease	p.Leu501Pro	VAR_012259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012259	- Sitosterolemia [MIM:210250]	SWISS	787	COG1123	11967971,NP_071882
64241	17432916	Disease	p.Leu501Pro	VAR_012259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012259	- Sitosterolemia [MIM:210250]	SWISS	150	pfam01061	11967971,NP_071882
64241	17432916	Disease	p.Arg543Ser	VAR_012260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012260	- Sitosterolemia [MIM:210250]	SWISS	220	pfam01061	11967971,NP_071882
64241	17432916	Disease	p.Leu572Pro	VAR_012262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012262	- Sitosterolemia [MIM:210250]	SWISS	251	pfam01061	11967971,NP_071882
64241	17432916	Disease	p.Gly574Glu	VAR_012263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012263	- Sitosterolemia [MIM:210250]	SWISS	253	pfam01061	11967971,NP_071882
64241	17432916	Disease	p.Gly574Arg	VAR_012264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012264	- Sitosterolemia [MIM:210250]	SWISS	253	pfam01061	11967971,NP_071882
64241	17432916	Disease	p.Leu596Arg	VAR_012266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012266	- Sitosterolemia [MIM:210250]	SWISS	285	pfam01061	11967971,NP_071882
51099	73921640	Disease	p.Glu7Lys	VAR_023387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023387	- Chanarin-Dorfman syndrome (CDS) [MIM:275630]	SWISS	No Domain	N/A	31542303,NP_057090
51099	73921640	Disease	p.Ser115Gly	VAR_057954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057954	- Chanarin-Dorfman syndrome (CDS) [MIM:275630]	SWISS	97	COG2267	31542303,NP_057090
51099	73921640	Disease	p.Ser115Gly	VAR_057954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057954	- Chanarin-Dorfman syndrome (CDS) [MIM:275630]	SWISS	147	COG0596	31542303,NP_057090
51099	73921640	Disease	p.Ser115Gly	VAR_057954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057954	- Chanarin-Dorfman syndrome (CDS) [MIM:275630]	SWISS	14	pfam00561	31542303,NP_057090
51099	73921640	Disease	p.Gln130Pro	VAR_023388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023388	rs28939077 Chanarin-Dorfman syndrome (CDS) [MIM:275630]	SWISS	121	COG2267	31542303,NP_057090
51099	73921640	Disease	p.Gln130Pro	VAR_023388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023388	rs28939077 Chanarin-Dorfman syndrome (CDS) [MIM:275630]	SWISS	201	COG0596	31542303,NP_057090
51099	73921640	Disease	p.Gln130Pro	VAR_023388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023388	rs28939077 Chanarin-Dorfman syndrome (CDS) [MIM:275630]	SWISS	73	pfam00561	31542303,NP_057090
51099	73921640	Disease	p.Glu260Lys	VAR_023389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023389	rs28939078 Chanarin-Dorfman syndrome (CDS) [MIM:275630]	SWISS	287	COG2267	31542303,NP_057090
51099	73921640	Disease	p.Glu260Lys	VAR_023389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023389	rs28939078 Chanarin-Dorfman syndrome (CDS) [MIM:275630]	SWISS	470	COG0596	31542303,NP_057090
51099	73921640	Disease	p.Glu260Lys	VAR_023389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023389	rs28939078 Chanarin-Dorfman syndrome (CDS) [MIM:275630]	SWISS	349	pfam00561	31542303,NP_057090
27034	26006699	Disease	p.Met128Ile	VAR_035071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035071	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	94	cd01153	7656849,NP_055199
27034	26006699	Disease	p.Met128Ile	VAR_035071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035071	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	103	cd01151	7656849,NP_055199
27034	26006699	Disease	p.Met128Ile	VAR_035071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035071	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	131	cd01154	7656849,NP_055199
27034	26006699	Disease	p.Met128Ile	VAR_035071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035071	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	92	cd01156	7656849,NP_055199
27034	26006699	Disease	p.Met128Ile	VAR_035071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035071	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	78	cd01163	7656849,NP_055199
27034	26006699	Disease	p.Met128Ile	VAR_035071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035071	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	88	cd01162	7656849,NP_055199
27034	26006699	Disease	p.Met128Ile	VAR_035071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035071	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	88	cd01157	7656849,NP_055199
27034	26006699	Disease	p.Met128Ile	VAR_035071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035071	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	211	pfam02771	7656849,NP_055199
27034	26006699	Disease	p.Met128Ile	VAR_035071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035071	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	187	COG1960	7656849,NP_055199
27034	26006699	Disease	p.Met128Ile	VAR_035071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035071	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	89	cd01160	7656849,NP_055199
27034	26006699	Disease	p.Met128Ile	VAR_035071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035071	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	102	cd01152	7656849,NP_055199
27034	26006699	Disease	p.Met128Ile	VAR_035071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035071	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	121_G	cd01155	7656849,NP_055199
27034	26006699	Disease	p.Met128Ile	VAR_035071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035071	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	90	cd01158	7656849,NP_055199
27034	26006699	Disease	p.Met128Ile	VAR_035071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035071	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	106	cd00567	7656849,NP_055199
27034	26006699	Disease	p.Met128Ile	VAR_035071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035071	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	121	cd01161	7656849,NP_055199
27034	26006699	Disease	p.Met128Ile	VAR_035071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035071	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	78	cd01159	7656849,NP_055199
27034	26006699	Disease	p.Asp134Tyr	VAR_035072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035072	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	100	cd01153	7656849,NP_055199
27034	26006699	Disease	p.Asp134Tyr	VAR_035072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035072	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	109	cd01151	7656849,NP_055199
27034	26006699	Disease	p.Asp134Tyr	VAR_035072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035072	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	137	cd01154	7656849,NP_055199
27034	26006699	Disease	p.Asp134Tyr	VAR_035072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035072	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	98	cd01156	7656849,NP_055199
27034	26006699	Disease	p.Asp134Tyr	VAR_035072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035072	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	84	cd01163	7656849,NP_055199
27034	26006699	Disease	p.Asp134Tyr	VAR_035072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035072	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	94	cd01162	7656849,NP_055199
27034	26006699	Disease	p.Asp134Tyr	VAR_035072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035072	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	94	cd01157	7656849,NP_055199
27034	26006699	Disease	p.Asp134Tyr	VAR_035072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035072	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	229	pfam02771	7656849,NP_055199
27034	26006699	Disease	p.Asp134Tyr	VAR_035072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035072	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	195	COG1960	7656849,NP_055199
27034	26006699	Disease	p.Asp134Tyr	VAR_035072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035072	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	95	cd01160	7656849,NP_055199
27034	26006699	Disease	p.Asp134Tyr	VAR_035072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035072	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	108	cd01152	7656849,NP_055199
27034	26006699	Disease	p.Asp134Tyr	VAR_035072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035072	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	134	cd01155	7656849,NP_055199
27034	26006699	Disease	p.Asp134Tyr	VAR_035072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035072	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	96	cd01158	7656849,NP_055199
27034	26006699	Disease	p.Asp134Tyr	VAR_035072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035072	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	112	cd00567	7656849,NP_055199
27034	26006699	Disease	p.Asp134Tyr	VAR_035072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035072	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	128	cd01161	7656849,NP_055199
27034	26006699	Disease	p.Asp134Tyr	VAR_035072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035072	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	84	cd01159	7656849,NP_055199
27034	26006699	Disease	p.Gly137Arg	VAR_035073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035073	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	104	cd01153	7656849,NP_055199
27034	26006699	Disease	p.Gly137Arg	VAR_035073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035073	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	112	cd01151	7656849,NP_055199
27034	26006699	Disease	p.Gly137Arg	VAR_035073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035073	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	140	cd01154	7656849,NP_055199
27034	26006699	Disease	p.Gly137Arg	VAR_035073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035073	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	101	cd01156	7656849,NP_055199
27034	26006699	Disease	p.Gly137Arg	VAR_035073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035073	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	87	cd01163	7656849,NP_055199
27034	26006699	Disease	p.Gly137Arg	VAR_035073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035073	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	97	cd01162	7656849,NP_055199
27034	26006699	Disease	p.Gly137Arg	VAR_035073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035073	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	97	cd01157	7656849,NP_055199
27034	26006699	Disease	p.Gly137Arg	VAR_035073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035073	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	232	pfam02771	7656849,NP_055199
27034	26006699	Disease	p.Gly137Arg	VAR_035073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035073	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	207	COG1960	7656849,NP_055199
27034	26006699	Disease	p.Gly137Arg	VAR_035073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035073	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	98	cd01160	7656849,NP_055199
27034	26006699	Disease	p.Gly137Arg	VAR_035073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035073	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	111	cd01152	7656849,NP_055199
27034	26006699	Disease	p.Gly137Arg	VAR_035073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035073	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	137	cd01155	7656849,NP_055199
27034	26006699	Disease	p.Gly137Arg	VAR_035073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035073	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	99	cd01158	7656849,NP_055199
27034	26006699	Disease	p.Gly137Arg	VAR_035073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035073	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	120	cd00567	7656849,NP_055199
27034	26006699	Disease	p.Gly137Arg	VAR_035073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035073	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	131	cd01161	7656849,NP_055199
27034	26006699	Disease	p.Gly137Arg	VAR_035073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035073	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	87	cd01159	7656849,NP_055199
27034	26006699	Disease	p.Met152Thr	VAR_035074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035074	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	119	cd01153	7656849,NP_055199
27034	26006699	Disease	p.Met152Thr	VAR_035074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035074	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	127	cd01151	7656849,NP_055199
27034	26006699	Disease	p.Met152Thr	VAR_035074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035074	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	157	cd01154	7656849,NP_055199
27034	26006699	Disease	p.Met152Thr	VAR_035074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035074	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	116	cd01156	7656849,NP_055199
27034	26006699	Disease	p.Met152Thr	VAR_035074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035074	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	103	cd01163	7656849,NP_055199
27034	26006699	Disease	p.Met152Thr	VAR_035074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035074	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	112	cd01162	7656849,NP_055199
27034	26006699	Disease	p.Met152Thr	VAR_035074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035074	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	112	cd01157	7656849,NP_055199
27034	26006699	Disease	p.Met152Thr	VAR_035074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035074	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	253	pfam02771	7656849,NP_055199
27034	26006699	Disease	p.Met152Thr	VAR_035074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035074	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	223	COG1960	7656849,NP_055199
27034	26006699	Disease	p.Met152Thr	VAR_035074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035074	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	113	cd01160	7656849,NP_055199
27034	26006699	Disease	p.Met152Thr	VAR_035074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035074	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	126	cd01152	7656849,NP_055199
27034	26006699	Disease	p.Met152Thr	VAR_035074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035074	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	152	cd01155	7656849,NP_055199
27034	26006699	Disease	p.Met152Thr	VAR_035074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035074	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	114	cd01158	7656849,NP_055199
27034	26006699	Disease	p.Met152Thr	VAR_035074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035074	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	142	cd00567	7656849,NP_055199
27034	26006699	Disease	p.Met152Thr	VAR_035074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035074	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	146	cd01161	7656849,NP_055199
27034	26006699	Disease	p.Met152Thr	VAR_035074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035074	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	91_G	cd01159	7656849,NP_055199
27034	26006699	Disease	p.Val203Ile	VAR_035075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035075	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	180	cd01153	7656849,NP_055199
27034	26006699	Disease	p.Val203Ile	VAR_035075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035075	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	181	cd01151	7656849,NP_055199
27034	26006699	Disease	p.Val203Ile	VAR_035075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035075	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	222	cd01154	7656849,NP_055199
27034	26006699	Disease	p.Val203Ile	VAR_035075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035075	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	167	cd01156	7656849,NP_055199
27034	26006699	Disease	p.Val203Ile	VAR_035075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035075	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	158	cd01163	7656849,NP_055199
27034	26006699	Disease	p.Val203Ile	VAR_035075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035075	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	167	cd01162	7656849,NP_055199
27034	26006699	Disease	p.Val203Ile	VAR_035075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035075	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	163	cd01157	7656849,NP_055199
27034	26006699	Disease	p.Val203Ile	VAR_035075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035075	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	303	COG1960	7656849,NP_055199
27034	26006699	Disease	p.Val203Ile	VAR_035075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035075	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	75	pfam02770	7656849,NP_055199
27034	26006699	Disease	p.Val203Ile	VAR_035075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035075	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	164	cd01160	7656849,NP_055199
27034	26006699	Disease	p.Val203Ile	VAR_035075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035075	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	177	cd01152	7656849,NP_055199
27034	26006699	Disease	p.Val203Ile	VAR_035075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035075	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	206	cd01155	7656849,NP_055199
27034	26006699	Disease	p.Val203Ile	VAR_035075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035075	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	166	cd01158	7656849,NP_055199
27034	26006699	Disease	p.Val203Ile	VAR_035075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035075	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	213	cd00567	7656849,NP_055199
27034	26006699	Disease	p.Val203Ile	VAR_035075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035075	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	199	cd01161	7656849,NP_055199
27034	26006699	Disease	p.Val203Ile	VAR_035075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035075	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	146	cd01159	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	VAR_035076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035076	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	310	cd01153	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	VAR_035076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035076	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	286	cd01151	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	VAR_035076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035076	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	338	cd01154	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	VAR_035076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035076	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	269	cd01156	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	VAR_035076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035076	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	41	pfam00441	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	VAR_035076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035076	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	268	cd01163	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	VAR_035076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035076	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	271	cd01162	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	VAR_035076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035076	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	266	cd01157	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	VAR_035076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035076	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	26	pfam08028	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	VAR_035076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035076	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	453	COG1960	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	VAR_035076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035076	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	266	cd01160	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	VAR_035076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035076	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	276	cd01152	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	VAR_035076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035076	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	326	cd01155	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	VAR_035076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035076	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	268	cd01158	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	VAR_035076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035076	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	348	cd00567	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	VAR_035076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035076	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	304	cd01161	7656849,NP_055199
27034	26006699	Disease	p.Arg302Gln	VAR_035076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035076	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	269	cd01159	7656849,NP_055199
27034	26006699	Disease	p.Ala320Thr	VAR_035077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035077	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	341	cd01153	7656849,NP_055199
27034	26006699	Disease	p.Ala320Thr	VAR_035077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035077	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	305	cd01151	7656849,NP_055199
27034	26006699	Disease	p.Ala320Thr	VAR_035077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035077	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	356	cd01154	7656849,NP_055199
27034	26006699	Disease	p.Ala320Thr	VAR_035077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035077	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	287	cd01156	7656849,NP_055199
27034	26006699	Disease	p.Ala320Thr	VAR_035077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035077	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	62	pfam00441	7656849,NP_055199
27034	26006699	Disease	p.Ala320Thr	VAR_035077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035077	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	302	cd01163	7656849,NP_055199
27034	26006699	Disease	p.Ala320Thr	VAR_035077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035077	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	289	cd01162	7656849,NP_055199
27034	26006699	Disease	p.Ala320Thr	VAR_035077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035077	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	284	cd01157	7656849,NP_055199
27034	26006699	Disease	p.Ala320Thr	VAR_035077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035077	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	50	pfam08028	7656849,NP_055199
27034	26006699	Disease	p.Ala320Thr	VAR_035077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035077	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	484	COG1960	7656849,NP_055199
27034	26006699	Disease	p.Ala320Thr	VAR_035077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035077	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	284	cd01160	7656849,NP_055199
27034	26006699	Disease	p.Ala320Thr	VAR_035077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035077	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	301	cd01152	7656849,NP_055199
27034	26006699	Disease	p.Ala320Thr	VAR_035077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035077	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	344	cd01155	7656849,NP_055199
27034	26006699	Disease	p.Ala320Thr	VAR_035077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035077	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	286	cd01158	7656849,NP_055199
27034	26006699	Disease	p.Ala320Thr	VAR_035077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035077	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	373	cd00567	7656849,NP_055199
27034	26006699	Disease	p.Ala320Thr	VAR_035077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035077	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	322	cd01161	7656849,NP_055199
27034	26006699	Disease	p.Ala320Thr	VAR_035077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035077	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	292	cd01159	7656849,NP_055199
27034	26006699	Disease	p.Arg334Cys	VAR_035078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035078	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	355	cd01153	7656849,NP_055199
27034	26006699	Disease	p.Arg334Cys	VAR_035078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035078	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	319	cd01151	7656849,NP_055199
27034	26006699	Disease	p.Arg334Cys	VAR_035078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035078	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	370	cd01154	7656849,NP_055199
27034	26006699	Disease	p.Arg334Cys	VAR_035078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035078	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	301	cd01156	7656849,NP_055199
27034	26006699	Disease	p.Arg334Cys	VAR_035078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035078	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	77	pfam00441	7656849,NP_055199
27034	26006699	Disease	p.Arg334Cys	VAR_035078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035078	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	316	cd01163	7656849,NP_055199
27034	26006699	Disease	p.Arg334Cys	VAR_035078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035078	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	303	cd01162	7656849,NP_055199
27034	26006699	Disease	p.Arg334Cys	VAR_035078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035078	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	298	cd01157	7656849,NP_055199
27034	26006699	Disease	p.Arg334Cys	VAR_035078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035078	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	64	pfam08028	7656849,NP_055199
27034	26006699	Disease	p.Arg334Cys	VAR_035078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035078	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	511	COG1960	7656849,NP_055199
27034	26006699	Disease	p.Arg334Cys	VAR_035078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035078	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	298	cd01160	7656849,NP_055199
27034	26006699	Disease	p.Arg334Cys	VAR_035078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035078	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	315	cd01152	7656849,NP_055199
27034	26006699	Disease	p.Arg334Cys	VAR_035078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035078	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	358	cd01155	7656849,NP_055199
27034	26006699	Disease	p.Arg334Cys	VAR_035078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035078	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	300	cd01158	7656849,NP_055199
27034	26006699	Disease	p.Arg334Cys	VAR_035078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035078	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	387	cd00567	7656849,NP_055199
27034	26006699	Disease	p.Arg334Cys	VAR_035078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035078	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	336	cd01161	7656849,NP_055199
27034	26006699	Disease	p.Arg334Cys	VAR_035078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035078	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	306	cd01159	7656849,NP_055199
27034	26006699	Disease	p.Gln385Arg	VAR_035079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035079	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	424	cd01153	7656849,NP_055199
27034	26006699	Disease	p.Gln385Arg	VAR_035079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035079	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	369	cd01151	7656849,NP_055199
27034	26006699	Disease	p.Gln385Arg	VAR_035079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035079	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	432	cd01154	7656849,NP_055199
27034	26006699	Disease	p.Gln385Arg	VAR_035079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035079	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	356	cd01156	7656849,NP_055199
27034	26006699	Disease	p.Gln385Arg	VAR_035079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035079	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	149	pfam00441	7656849,NP_055199
27034	26006699	Disease	p.Gln385Arg	VAR_035079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035079	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	387	cd01163	7656849,NP_055199
27034	26006699	Disease	p.Gln385Arg	VAR_035079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035079	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	354	cd01162	7656849,NP_055199
27034	26006699	Disease	p.Gln385Arg	VAR_035079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035079	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	348	cd01157	7656849,NP_055199
27034	26006699	Disease	p.Gln385Arg	VAR_035079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035079	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	131	pfam08028	7656849,NP_055199
27034	26006699	Disease	p.Gln385Arg	VAR_035079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035079	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	639	COG1960	7656849,NP_055199
27034	26006699	Disease	p.Gln385Arg	VAR_035079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035079	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	348	cd01160	7656849,NP_055199
27034	26006699	Disease	p.Gln385Arg	VAR_035079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035079	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	387	cd01152	7656849,NP_055199
27034	26006699	Disease	p.Gln385Arg	VAR_035079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035079	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	410	cd01155	7656849,NP_055199
27034	26006699	Disease	p.Gln385Arg	VAR_035079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035079	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	351	cd01158	7656849,NP_055199
27034	26006699	Disease	p.Gln385Arg	VAR_035079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035079	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	469	cd00567	7656849,NP_055199
27034	26006699	Disease	p.Gln385Arg	VAR_035079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035079	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	405	cd01161	7656849,NP_055199
27034	26006699	Disease	p.Gln385Arg	VAR_035079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035079	- Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]	SWISS	368	cd01159	7656849,NP_055199
34	113017	Disease	p.Arg53Cys	VAR_000317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000317	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	4	cd01159	4557231,NP_000007
34	113017	Disease	p.Arg53Cys	VAR_000317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000317	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	4	cd01163	4557231,NP_000007
34	113017	Disease	p.Arg53Cys	VAR_000317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000317	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	6	cd01153	4557231,NP_000007
34	113017	Disease	p.Arg53Cys	VAR_000317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000317	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	14	cd01156	4557231,NP_000007
34	113017	Disease	p.Arg53Cys	VAR_000317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000317	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	13	cd01162	4557231,NP_000007
34	113017	Disease	p.Arg53Cys	VAR_000317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000317	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	13	cd01157	4557231,NP_000007
34	113017	Disease	p.Arg53Cys	VAR_000317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000317	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	44	cd01161	4557231,NP_000007
34	113017	Disease	p.Arg53Cys	VAR_000317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000317	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	26	pfam02771	4557231,NP_000007
34	113017	Disease	p.Arg53Cys	VAR_000317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000317	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	12	cd01154	4557231,NP_000007
34	113017	Disease	p.Arg53Cys	VAR_000317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000317	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	37	COG1960	4557231,NP_000007
34	113017	Disease	p.Arg53Cys	VAR_000317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000317	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	11	cd01155	4557231,NP_000007
34	113017	Disease	p.Arg53Cys	VAR_000317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000317	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	11	cd00567	4557231,NP_000007
34	113017	Disease	p.Arg53Cys	VAR_000317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000317	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	11	cd01160	4557231,NP_000007
34	113017	Disease	p.Arg53Cys	VAR_000317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000317	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	11	cd01158	4557231,NP_000007
34	113017	Disease	p.Arg53Cys	VAR_000317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000317	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	11	cd01152	4557231,NP_000007
34	113017	Disease	p.Arg53Cys	VAR_000317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000317	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	25	cd01151	4557231,NP_000007
34	113017	Disease	p.Tyr67His	VAR_013698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013698	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	17	cd01159	4557231,NP_000007
34	113017	Disease	p.Tyr67His	VAR_013698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013698	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	17	cd01163	4557231,NP_000007
34	113017	Disease	p.Tyr67His	VAR_013698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013698	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	20	cd01153	4557231,NP_000007
34	113017	Disease	p.Tyr67His	VAR_013698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013698	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	28	cd01156	4557231,NP_000007
34	113017	Disease	p.Tyr67His	VAR_013698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013698	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	27	cd01162	4557231,NP_000007
34	113017	Disease	p.Tyr67His	VAR_013698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013698	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	27	cd01157	4557231,NP_000007
34	113017	Disease	p.Tyr67His	VAR_013698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013698	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	56	cd01161	4557231,NP_000007
34	113017	Disease	p.Tyr67His	VAR_013698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013698	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	52	pfam02771	4557231,NP_000007
34	113017	Disease	p.Tyr67His	VAR_013698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013698	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	27	cd01154	4557231,NP_000007
34	113017	Disease	p.Tyr67His	VAR_013698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013698	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	58	COG1960	4557231,NP_000007
34	113017	Disease	p.Tyr67His	VAR_013698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013698	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	28	cd01155	4557231,NP_000007
34	113017	Disease	p.Tyr67His	VAR_013698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013698	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	41	cd00567	4557231,NP_000007
34	113017	Disease	p.Tyr67His	VAR_013698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013698	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	25	cd01160	4557231,NP_000007
34	113017	Disease	p.Tyr67His	VAR_013698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013698	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	25	cd01158	4557231,NP_000007
34	113017	Disease	p.Tyr67His	VAR_013698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013698	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	38	cd01152	4557231,NP_000007
34	113017	Disease	p.Tyr67His	VAR_013698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013698	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	39	cd01151	4557231,NP_000007
34	113017	Disease	p.Ile78Thr	VAR_015954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015954	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	28	cd01159	4557231,NP_000007
34	113017	Disease	p.Ile78Thr	VAR_015954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015954	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	28	cd01163	4557231,NP_000007
34	113017	Disease	p.Ile78Thr	VAR_015954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015954	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	44	cd01153	4557231,NP_000007
34	113017	Disease	p.Ile78Thr	VAR_015954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015954	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	41	cd01156	4557231,NP_000007
34	113017	Disease	p.Ile78Thr	VAR_015954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015954	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	38	cd01162	4557231,NP_000007
34	113017	Disease	p.Ile78Thr	VAR_015954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015954	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	38	cd01157	4557231,NP_000007
34	113017	Disease	p.Ile78Thr	VAR_015954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015954	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	71	cd01161	4557231,NP_000007
34	113017	Disease	p.Ile78Thr	VAR_015954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015954	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	106	pfam02771	4557231,NP_000007
34	113017	Disease	p.Ile78Thr	VAR_015954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015954	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	77	cd01154	4557231,NP_000007
34	113017	Disease	p.Ile78Thr	VAR_015954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015954	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	113	COG1960	4557231,NP_000007
34	113017	Disease	p.Ile78Thr	VAR_015954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015954	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	45	cd01155	4557231,NP_000007
34	113017	Disease	p.Ile78Thr	VAR_015954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015954	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	52	cd00567	4557231,NP_000007
34	113017	Disease	p.Ile78Thr	VAR_015954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015954	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	36	cd01160	4557231,NP_000007
34	113017	Disease	p.Ile78Thr	VAR_015954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015954	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	36	cd01158	4557231,NP_000007
34	113017	Disease	p.Ile78Thr	VAR_015954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015954	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	49	cd01152	4557231,NP_000007
34	113017	Disease	p.Ile78Thr	VAR_015954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015954	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	52	cd01151	4557231,NP_000007
34	113017	Disease	p.Cys116Tyr	VAR_015955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015955	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	66	cd01159	4557231,NP_000007
34	113017	Disease	p.Cys116Tyr	VAR_015955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015955	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	66	cd01163	4557231,NP_000007
34	113017	Disease	p.Cys116Tyr	VAR_015955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015955	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	83	cd01153	4557231,NP_000007
34	113017	Disease	p.Cys116Tyr	VAR_015955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015955	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	79	cd01156	4557231,NP_000007
34	113017	Disease	p.Cys116Tyr	VAR_015955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015955	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	76	cd01162	4557231,NP_000007
34	113017	Disease	p.Cys116Tyr	VAR_015955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015955	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	76	cd01157	4557231,NP_000007
34	113017	Disease	p.Cys116Tyr	VAR_015955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015955	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	111	cd01161	4557231,NP_000007
34	113017	Disease	p.Cys116Tyr	VAR_015955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015955	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	186	pfam02771	4557231,NP_000007
34	113017	Disease	p.Cys116Tyr	VAR_015955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015955	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	124	cd01154	4557231,NP_000007
34	113017	Disease	p.Cys116Tyr	VAR_015955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015955	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	173	COG1960	4557231,NP_000007
34	113017	Disease	p.Cys116Tyr	VAR_015955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015955	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	108_G	cd01155	4557231,NP_000007
34	113017	Disease	p.Cys116Tyr	VAR_015955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015955	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	94	cd00567	4557231,NP_000007
34	113017	Disease	p.Cys116Tyr	VAR_015955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015955	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	76	cd01160	4557231,NP_000007
34	113017	Disease	p.Cys116Tyr	VAR_015955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015955	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	77	cd01158	4557231,NP_000007
34	113017	Disease	p.Cys116Tyr	VAR_015955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015955	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	87	cd01152	4557231,NP_000007
34	113017	Disease	p.Cys116Tyr	VAR_015955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015955	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	90	cd01151	4557231,NP_000007
34	113017	Disease	p.Thr121Ile	VAR_015956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015956	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	73	cd01159	4557231,NP_000007
34	113017	Disease	p.Thr121Ile	VAR_015956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015956	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	71	cd01163	4557231,NP_000007
34	113017	Disease	p.Thr121Ile	VAR_015956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015956	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	88	cd01153	4557231,NP_000007
34	113017	Disease	p.Thr121Ile	VAR_015956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015956	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	84	cd01156	4557231,NP_000007
34	113017	Disease	p.Thr121Ile	VAR_015956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015956	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	81	cd01162	4557231,NP_000007
34	113017	Disease	p.Thr121Ile	VAR_015956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015956	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	81	cd01157	4557231,NP_000007
34	113017	Disease	p.Thr121Ile	VAR_015956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015956	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	116	cd01161	4557231,NP_000007
34	113017	Disease	p.Thr121Ile	VAR_015956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015956	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	198	pfam02771	4557231,NP_000007
34	113017	Disease	p.Thr121Ile	VAR_015956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015956	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	126	cd01154	4557231,NP_000007
34	113017	Disease	p.Thr121Ile	VAR_015956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015956	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	179	COG1960	4557231,NP_000007
34	113017	Disease	p.Thr121Ile	VAR_015956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015956	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	115	cd01155	4557231,NP_000007
34	113017	Disease	p.Thr121Ile	VAR_015956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015956	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	99	cd00567	4557231,NP_000007
34	113017	Disease	p.Thr121Ile	VAR_015956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015956	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	81	cd01160	4557231,NP_000007
34	113017	Disease	p.Thr121Ile	VAR_015956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015956	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	82	cd01158	4557231,NP_000007
34	113017	Disease	p.Thr121Ile	VAR_015956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015956	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	92	cd01152	4557231,NP_000007
34	113017	Disease	p.Thr121Ile	VAR_015956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015956	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	95	cd01151	4557231,NP_000007
34	113017	Disease	p.Met149Ile	VAR_000319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000319	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	89	cd01159	4557231,NP_000007
34	113017	Disease	p.Met149Ile	VAR_000319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000319	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	101	cd01163	4557231,NP_000007
34	113017	Disease	p.Met149Ile	VAR_000319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000319	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	116	cd01153	4557231,NP_000007
34	113017	Disease	p.Met149Ile	VAR_000319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000319	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	113	cd01156	4557231,NP_000007
34	113017	Disease	p.Met149Ile	VAR_000319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000319	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	109	cd01162	4557231,NP_000007
34	113017	Disease	p.Met149Ile	VAR_000319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000319	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	109	cd01157	4557231,NP_000007
34	113017	Disease	p.Met149Ile	VAR_000319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000319	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	143	cd01161	4557231,NP_000007
34	113017	Disease	p.Met149Ile	VAR_000319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000319	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	250	pfam02771	4557231,NP_000007
34	113017	Disease	p.Met149Ile	VAR_000319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000319	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	153	cd01154	4557231,NP_000007
34	113017	Disease	p.Met149Ile	VAR_000319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000319	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	220	COG1960	4557231,NP_000007
34	113017	Disease	p.Met149Ile	VAR_000319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000319	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	146_G	cd01155	4557231,NP_000007
34	113017	Disease	p.Met149Ile	VAR_000319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000319	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	132	cd00567	4557231,NP_000007
34	113017	Disease	p.Met149Ile	VAR_000319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000319	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	110	cd01160	4557231,NP_000007
34	113017	Disease	p.Met149Ile	VAR_000319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000319	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	111	cd01158	4557231,NP_000007
34	113017	Disease	p.Met149Ile	VAR_000319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000319	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	123	cd01152	4557231,NP_000007
34	113017	Disease	p.Met149Ile	VAR_000319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000319	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	124	cd01151	4557231,NP_000007
34	113017	Disease	p.Thr193Ala	VAR_000320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000320	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	136	cd01159	4557231,NP_000007
34	113017	Disease	p.Thr193Ala	VAR_000320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000320	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	148	cd01163	4557231,NP_000007
34	113017	Disease	p.Thr193Ala	VAR_000320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000320	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	165	cd01153	4557231,NP_000007
34	113017	Disease	p.Thr193Ala	VAR_000320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000320	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	157	cd01156	4557231,NP_000007
34	113017	Disease	p.Thr193Ala	VAR_000320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000320	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	157	cd01162	4557231,NP_000007
34	113017	Disease	p.Thr193Ala	VAR_000320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000320	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	153	cd01157	4557231,NP_000007
34	113017	Disease	p.Thr193Ala	VAR_000320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000320	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	189	cd01161	4557231,NP_000007
34	113017	Disease	p.Thr193Ala	VAR_000320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000320	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	212	cd01154	4557231,NP_000007
34	113017	Disease	p.Thr193Ala	VAR_000320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000320	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	287	COG1960	4557231,NP_000007
34	113017	Disease	p.Thr193Ala	VAR_000320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000320	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	194	cd01155	4557231,NP_000007
34	113017	Disease	p.Thr193Ala	VAR_000320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000320	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	197	cd00567	4557231,NP_000007
34	113017	Disease	p.Thr193Ala	VAR_000320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000320	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	154	cd01160	4557231,NP_000007
34	113017	Disease	p.Thr193Ala	VAR_000320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000320	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	156	cd01158	4557231,NP_000007
34	113017	Disease	p.Thr193Ala	VAR_000320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000320	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	167	cd01152	4557231,NP_000007
34	113017	Disease	p.Thr193Ala	VAR_000320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000320	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	58	pfam02770	4557231,NP_000007
34	113017	Disease	p.Thr193Ala	VAR_000320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000320	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	171	cd01151	4557231,NP_000007
34	113017	Disease	p.Gly195Arg	VAR_000321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000321	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	138	cd01159	4557231,NP_000007
34	113017	Disease	p.Gly195Arg	VAR_000321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000321	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	150	cd01163	4557231,NP_000007
34	113017	Disease	p.Gly195Arg	VAR_000321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000321	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	167	cd01153	4557231,NP_000007
34	113017	Disease	p.Gly195Arg	VAR_000321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000321	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	159	cd01156	4557231,NP_000007
34	113017	Disease	p.Gly195Arg	VAR_000321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000321	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	159	cd01162	4557231,NP_000007
34	113017	Disease	p.Gly195Arg	VAR_000321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000321	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	155	cd01157	4557231,NP_000007
34	113017	Disease	p.Gly195Arg	VAR_000321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000321	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	191	cd01161	4557231,NP_000007
34	113017	Disease	p.Gly195Arg	VAR_000321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000321	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	214	cd01154	4557231,NP_000007
34	113017	Disease	p.Gly195Arg	VAR_000321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000321	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	289	COG1960	4557231,NP_000007
34	113017	Disease	p.Gly195Arg	VAR_000321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000321	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	196	cd01155	4557231,NP_000007
34	113017	Disease	p.Gly195Arg	VAR_000321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000321	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	199	cd00567	4557231,NP_000007
34	113017	Disease	p.Gly195Arg	VAR_000321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000321	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	156	cd01160	4557231,NP_000007
34	113017	Disease	p.Gly195Arg	VAR_000321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000321	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	158	cd01158	4557231,NP_000007
34	113017	Disease	p.Gly195Arg	VAR_000321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000321	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	169	cd01152	4557231,NP_000007
34	113017	Disease	p.Gly195Arg	VAR_000321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000321	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	61	pfam02770	4557231,NP_000007
34	113017	Disease	p.Gly195Arg	VAR_000321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000321	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	173	cd01151	4557231,NP_000007
34	113017	Disease	p.Arg206Leu	VAR_015957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015957	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	149	cd01159	4557231,NP_000007
34	113017	Disease	p.Arg206Leu	VAR_015957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015957	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	160_G	cd01163	4557231,NP_000007
34	113017	Disease	p.Arg206Leu	VAR_015957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015957	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	183	cd01153	4557231,NP_000007
34	113017	Disease	p.Arg206Leu	VAR_015957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015957	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	170	cd01156	4557231,NP_000007
34	113017	Disease	p.Arg206Leu	VAR_015957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015957	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	170	cd01162	4557231,NP_000007
34	113017	Disease	p.Arg206Leu	VAR_015957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015957	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	166	cd01157	4557231,NP_000007
34	113017	Disease	p.Arg206Leu	VAR_015957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015957	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	202	cd01161	4557231,NP_000007
34	113017	Disease	p.Arg206Leu	VAR_015957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015957	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	225	cd01154	4557231,NP_000007
34	113017	Disease	p.Arg206Leu	VAR_015957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015957	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	306	COG1960	4557231,NP_000007
34	113017	Disease	p.Arg206Leu	VAR_015957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015957	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	209	cd01155	4557231,NP_000007
34	113017	Disease	p.Arg206Leu	VAR_015957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015957	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	216	cd00567	4557231,NP_000007
34	113017	Disease	p.Arg206Leu	VAR_015957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015957	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	167	cd01160	4557231,NP_000007
34	113017	Disease	p.Arg206Leu	VAR_015957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015957	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	169	cd01158	4557231,NP_000007
34	113017	Disease	p.Arg206Leu	VAR_015957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015957	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	180	cd01152	4557231,NP_000007
34	113017	Disease	p.Arg206Leu	VAR_015957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015957	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	78	pfam02770	4557231,NP_000007
34	113017	Disease	p.Arg206Leu	VAR_015957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015957	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	184	cd01151	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	VAR_000322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000322	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	191	cd01159	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	VAR_000322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000322	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	199	cd01163	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	VAR_000322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000322	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	234	cd01153	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	VAR_000322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000322	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	207	cd01156	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	VAR_000322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000322	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	206	cd01162	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	VAR_000322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000322	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	204	cd01157	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	VAR_000322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000322	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	242	cd01161	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	VAR_000322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000322	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	270	cd01154	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	VAR_000322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000322	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	362	COG1960	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	VAR_000322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000322	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	247_G	cd01155	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	VAR_000322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000322	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	273	cd00567	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	VAR_000322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000322	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	204	cd01160	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	VAR_000322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000322	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	205	cd01158	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	VAR_000322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000322	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	217_G	cd01152	4557231,NP_000007
34	113017	Disease	p.Cys244Arg	VAR_000322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000322	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	224	cd01151	4557231,NP_000007
34	113017	Disease	p.Ser245Leu	VAR_013699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013699	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	192	cd01159	4557231,NP_000007
34	113017	Disease	p.Ser245Leu	VAR_013699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013699	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	200	cd01163	4557231,NP_000007
34	113017	Disease	p.Ser245Leu	VAR_013699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013699	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	235	cd01153	4557231,NP_000007
34	113017	Disease	p.Ser245Leu	VAR_013699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013699	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	208	cd01156	4557231,NP_000007
34	113017	Disease	p.Ser245Leu	VAR_013699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013699	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	207	cd01162	4557231,NP_000007
34	113017	Disease	p.Ser245Leu	VAR_013699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013699	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	205	cd01157	4557231,NP_000007
34	113017	Disease	p.Ser245Leu	VAR_013699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013699	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	243	cd01161	4557231,NP_000007
34	113017	Disease	p.Ser245Leu	VAR_013699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013699	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	271	cd01154	4557231,NP_000007
34	113017	Disease	p.Ser245Leu	VAR_013699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013699	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	363	COG1960	4557231,NP_000007
34	113017	Disease	p.Ser245Leu	VAR_013699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013699	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	247_G	cd01155	4557231,NP_000007
34	113017	Disease	p.Ser245Leu	VAR_013699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013699	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	274	cd00567	4557231,NP_000007
34	113017	Disease	p.Ser245Leu	VAR_013699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013699	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	205	cd01160	4557231,NP_000007
34	113017	Disease	p.Ser245Leu	VAR_013699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013699	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	206	cd01158	4557231,NP_000007
34	113017	Disease	p.Ser245Leu	VAR_013699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013699	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	218	cd01152	4557231,NP_000007
34	113017	Disease	p.Ser245Leu	VAR_013699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013699	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	225	cd01151	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	VAR_000323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000323	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	220	cd01159	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	VAR_000323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000323	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	222	cd01163	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	VAR_000323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000323	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	270	cd01153	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	VAR_000323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000323	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	230	cd01156	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	VAR_000323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000323	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	232	cd01162	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	VAR_000323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000323	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	227	cd01157	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	VAR_000323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000323	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	265	cd01161	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	VAR_000323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000323	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	299	cd01154	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	VAR_000323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000323	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	409	COG1960	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	VAR_000323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000323	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	285	cd01155	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	VAR_000323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000323	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	296	cd00567	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	VAR_000323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000323	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	227	cd01160	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	VAR_000323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000323	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	228	cd01158	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	VAR_000323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000323	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	240	cd01152	4557231,NP_000007
34	113017	Disease	p.Gly267Arg	VAR_000323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000323	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	247	cd01151	4557231,NP_000007
34	113017	Disease	p.Arg281Thr	VAR_013700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013700	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	242	cd01159	4557231,NP_000007
34	113017	Disease	p.Arg281Thr	VAR_013700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013700	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	243	cd01163	4557231,NP_000007
34	113017	Disease	p.Arg281Thr	VAR_013700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013700	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	285	cd01153	4557231,NP_000007
34	113017	Disease	p.Arg281Thr	VAR_013700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013700	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	244	cd01156	4557231,NP_000007
34	113017	Disease	p.Arg281Thr	VAR_013700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013700	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	16	pfam00441	4557231,NP_000007
34	113017	Disease	p.Arg281Thr	VAR_013700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013700	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	246	cd01162	4557231,NP_000007
34	113017	Disease	p.Arg281Thr	VAR_013700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013700	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	241	cd01157	4557231,NP_000007
34	113017	Disease	p.Arg281Thr	VAR_013700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013700	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	279	cd01161	4557231,NP_000007
34	113017	Disease	p.Arg281Thr	VAR_013700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013700	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	313	cd01154	4557231,NP_000007
34	113017	Disease	p.Arg281Thr	VAR_013700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013700	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	423	COG1960	4557231,NP_000007
34	113017	Disease	p.Arg281Thr	VAR_013700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013700	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	305	cd01155	4557231,NP_000007
34	113017	Disease	p.Arg281Thr	VAR_013700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013700	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	323	cd00567	4557231,NP_000007
34	113017	Disease	p.Arg281Thr	VAR_013700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013700	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	241	cd01160	4557231,NP_000007
34	113017	Disease	p.Arg281Thr	VAR_013700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013700	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	242	cd01158	4557231,NP_000007
34	113017	Disease	p.Arg281Thr	VAR_013700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013700	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	254	cd01152	4557231,NP_000007
34	113017	Disease	p.Arg281Thr	VAR_013700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013700	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	261	cd01151	4557231,NP_000007
34	113017	Disease	p.Gly310Arg	VAR_015958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015958	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	271	cd01159	4557231,NP_000007
34	113017	Disease	p.Gly310Arg	VAR_015958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015958	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	275	cd01163	4557231,NP_000007
34	113017	Disease	p.Gly310Arg	VAR_015958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015958	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	314	cd01153	4557231,NP_000007
34	113017	Disease	p.Gly310Arg	VAR_015958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015958	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	273	cd01156	4557231,NP_000007
34	113017	Disease	p.Gly310Arg	VAR_015958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015958	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	36	pfam08028	4557231,NP_000007
34	113017	Disease	p.Gly310Arg	VAR_015958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015958	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	47	pfam00441	4557231,NP_000007
34	113017	Disease	p.Gly310Arg	VAR_015958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015958	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	275	cd01162	4557231,NP_000007
34	113017	Disease	p.Gly310Arg	VAR_015958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015958	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	270	cd01157	4557231,NP_000007
34	113017	Disease	p.Gly310Arg	VAR_015958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015958	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	308	cd01161	4557231,NP_000007
34	113017	Disease	p.Gly310Arg	VAR_015958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015958	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	342	cd01154	4557231,NP_000007
34	113017	Disease	p.Gly310Arg	VAR_015958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015958	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	469	COG1960	4557231,NP_000007
34	113017	Disease	p.Gly310Arg	VAR_015958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015958	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	330	cd01155	4557231,NP_000007
34	113017	Disease	p.Gly310Arg	VAR_015958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015958	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	359	cd00567	4557231,NP_000007
34	113017	Disease	p.Gly310Arg	VAR_015958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015958	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	270	cd01160	4557231,NP_000007
34	113017	Disease	p.Gly310Arg	VAR_015958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015958	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	272	cd01158	4557231,NP_000007
34	113017	Disease	p.Gly310Arg	VAR_015958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015958	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	287	cd01152	4557231,NP_000007
34	113017	Disease	p.Gly310Arg	VAR_015958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015958	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	291	cd01151	4557231,NP_000007
34	113017	Disease	p.Met326Thr	VAR_000324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000324	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	294	cd01159	4557231,NP_000007
34	113017	Disease	p.Met326Thr	VAR_000324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000324	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	312	cd01163	4557231,NP_000007
34	113017	Disease	p.Met326Thr	VAR_000324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000324	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	343	cd01153	4557231,NP_000007
34	113017	Disease	p.Met326Thr	VAR_000324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000324	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	289	cd01156	4557231,NP_000007
34	113017	Disease	p.Met326Thr	VAR_000324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000324	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	52	pfam08028	4557231,NP_000007
34	113017	Disease	p.Met326Thr	VAR_000324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000324	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	64	pfam00441	4557231,NP_000007
34	113017	Disease	p.Met326Thr	VAR_000324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000324	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	291	cd01162	4557231,NP_000007
34	113017	Disease	p.Met326Thr	VAR_000324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000324	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	286	cd01157	4557231,NP_000007
34	113017	Disease	p.Met326Thr	VAR_000324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000324	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	324	cd01161	4557231,NP_000007
34	113017	Disease	p.Met326Thr	VAR_000324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000324	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	358	cd01154	4557231,NP_000007
34	113017	Disease	p.Met326Thr	VAR_000324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000324	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	486	COG1960	4557231,NP_000007
34	113017	Disease	p.Met326Thr	VAR_000324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000324	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	346	cd01155	4557231,NP_000007
34	113017	Disease	p.Met326Thr	VAR_000324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000324	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	375	cd00567	4557231,NP_000007
34	113017	Disease	p.Met326Thr	VAR_000324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000324	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	286	cd01160	4557231,NP_000007
34	113017	Disease	p.Met326Thr	VAR_000324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000324	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	288	cd01158	4557231,NP_000007
34	113017	Disease	p.Met326Thr	VAR_000324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000324	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	303	cd01152	4557231,NP_000007
34	113017	Disease	p.Met326Thr	VAR_000324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000324	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	307	cd01151	4557231,NP_000007
34	113017	Disease	p.Lys329Glu	VAR_000325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000325	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	297	cd01159	4557231,NP_000007
34	113017	Disease	p.Lys329Glu	VAR_000325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000325	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	315	cd01163	4557231,NP_000007
34	113017	Disease	p.Lys329Glu	VAR_000325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000325	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	346	cd01153	4557231,NP_000007
34	113017	Disease	p.Lys329Glu	VAR_000325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000325	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	292	cd01156	4557231,NP_000007
34	113017	Disease	p.Lys329Glu	VAR_000325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000325	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	55	pfam08028	4557231,NP_000007
34	113017	Disease	p.Lys329Glu	VAR_000325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000325	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	67	pfam00441	4557231,NP_000007
34	113017	Disease	p.Lys329Glu	VAR_000325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000325	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	294	cd01162	4557231,NP_000007
34	113017	Disease	p.Lys329Glu	VAR_000325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000325	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	289	cd01157	4557231,NP_000007
34	113017	Disease	p.Lys329Glu	VAR_000325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000325	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	327	cd01161	4557231,NP_000007
34	113017	Disease	p.Lys329Glu	VAR_000325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000325	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	361	cd01154	4557231,NP_000007
34	113017	Disease	p.Lys329Glu	VAR_000325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000325	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	489	COG1960	4557231,NP_000007
34	113017	Disease	p.Lys329Glu	VAR_000325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000325	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	349	cd01155	4557231,NP_000007
34	113017	Disease	p.Lys329Glu	VAR_000325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000325	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	378	cd00567	4557231,NP_000007
34	113017	Disease	p.Lys329Glu	VAR_000325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000325	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	289	cd01160	4557231,NP_000007
34	113017	Disease	p.Lys329Glu	VAR_000325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000325	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	291	cd01158	4557231,NP_000007
34	113017	Disease	p.Lys329Glu	VAR_000325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000325	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	306	cd01152	4557231,NP_000007
34	113017	Disease	p.Lys329Glu	VAR_000325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000325	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	310	cd01151	4557231,NP_000007
34	113017	Disease	p.Ser336Arg	VAR_000326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000326	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	304	cd01159	4557231,NP_000007
34	113017	Disease	p.Ser336Arg	VAR_000326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000326	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	321	cd01163	4557231,NP_000007
34	113017	Disease	p.Ser336Arg	VAR_000326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000326	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	353	cd01153	4557231,NP_000007
34	113017	Disease	p.Ser336Arg	VAR_000326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000326	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	299	cd01156	4557231,NP_000007
34	113017	Disease	p.Ser336Arg	VAR_000326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000326	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	62	pfam08028	4557231,NP_000007
34	113017	Disease	p.Ser336Arg	VAR_000326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000326	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	75	pfam00441	4557231,NP_000007
34	113017	Disease	p.Ser336Arg	VAR_000326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000326	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	301	cd01162	4557231,NP_000007
34	113017	Disease	p.Ser336Arg	VAR_000326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000326	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	296	cd01157	4557231,NP_000007
34	113017	Disease	p.Ser336Arg	VAR_000326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000326	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	334	cd01161	4557231,NP_000007
34	113017	Disease	p.Ser336Arg	VAR_000326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000326	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	371	cd01154	4557231,NP_000007
34	113017	Disease	p.Ser336Arg	VAR_000326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000326	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	509	COG1960	4557231,NP_000007
34	113017	Disease	p.Ser336Arg	VAR_000326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000326	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	356	cd01155	4557231,NP_000007
34	113017	Disease	p.Ser336Arg	VAR_000326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000326	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	385	cd00567	4557231,NP_000007
34	113017	Disease	p.Ser336Arg	VAR_000326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000326	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	296	cd01160	4557231,NP_000007
34	113017	Disease	p.Ser336Arg	VAR_000326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000326	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	298	cd01158	4557231,NP_000007
34	113017	Disease	p.Ser336Arg	VAR_000326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000326	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	313	cd01152	4557231,NP_000007
34	113017	Disease	p.Ser336Arg	VAR_000326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000326	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	314_G	cd01151	4557231,NP_000007
34	113017	Disease	p.Tyr352Cys	VAR_015959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015959	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	332	cd01159	4557231,NP_000007
34	113017	Disease	p.Tyr352Cys	VAR_015959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015959	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	347	cd01163	4557231,NP_000007
34	113017	Disease	p.Tyr352Cys	VAR_015959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015959	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	380	cd01153	4557231,NP_000007
34	113017	Disease	p.Tyr352Cys	VAR_015959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015959	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	320	cd01156	4557231,NP_000007
34	113017	Disease	p.Tyr352Cys	VAR_015959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015959	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	91	pfam08028	4557231,NP_000007
34	113017	Disease	p.Tyr352Cys	VAR_015959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015959	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	102	pfam00441	4557231,NP_000007
34	113017	Disease	p.Tyr352Cys	VAR_015959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015959	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	318	cd01162	4557231,NP_000007
34	113017	Disease	p.Tyr352Cys	VAR_015959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015959	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	312	cd01157	4557231,NP_000007
34	113017	Disease	p.Tyr352Cys	VAR_015959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015959	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	367	cd01161	4557231,NP_000007
34	113017	Disease	p.Tyr352Cys	VAR_015959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015959	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	392	cd01154	4557231,NP_000007
34	113017	Disease	p.Tyr352Cys	VAR_015959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015959	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	553	COG1960	4557231,NP_000007
34	113017	Disease	p.Tyr352Cys	VAR_015959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015959	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	374	cd01155	4557231,NP_000007
34	113017	Disease	p.Tyr352Cys	VAR_015959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015959	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	414	cd00567	4557231,NP_000007
34	113017	Disease	p.Tyr352Cys	VAR_015959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015959	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	312	cd01160	4557231,NP_000007
34	113017	Disease	p.Tyr352Cys	VAR_015959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015959	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	315	cd01158	4557231,NP_000007
34	113017	Disease	p.Tyr352Cys	VAR_015959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015959	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	332	cd01152	4557231,NP_000007
34	113017	Disease	p.Tyr352Cys	VAR_015959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015959	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	333	cd01151	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	VAR_000327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000327	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	355	cd01159	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	VAR_000327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000327	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	374	cd01163	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	VAR_000327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000327	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	411	cd01153	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	VAR_000327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000327	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	343	cd01156	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	VAR_000327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000327	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	118	pfam08028	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	VAR_000327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000327	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	126	pfam00441	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	VAR_000327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000327	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	341	cd01162	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	VAR_000327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000327	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	335	cd01157	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	VAR_000327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000327	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	392	cd01161	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	VAR_000327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000327	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	419	cd01154	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	VAR_000327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000327	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	576	COG1960	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	VAR_000327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000327	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	397	cd01155	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	VAR_000327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000327	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	437	cd00567	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	VAR_000327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000327	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	335	cd01160	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	VAR_000327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000327	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	338	cd01158	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	VAR_000327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000327	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	355	cd01152	4557231,NP_000007
34	113017	Disease	p.Ile375Thr	VAR_000327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000327	- Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]	SWISS	356	cd01151	4557231,NP_000007
35	113019	Disease	p.Arg46Trp	VAR_000310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000310	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	26	pfam02771	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	VAR_000310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000310	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	14	cd01156	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	VAR_000310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000310	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	11	cd01158	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	VAR_000310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000310	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	11	cd01155	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	VAR_000310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000310	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	11	cd01152	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	VAR_000310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000310	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	11	cd01160	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	VAR_000310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000310	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	11	cd00567	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	VAR_000310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000310	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	44	cd01161	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	VAR_000310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000310	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	6	cd01153	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	VAR_000310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000310	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	19	cd01154	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	VAR_000310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000310	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	13	cd01157	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	VAR_000310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000310	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	13	cd01162	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	VAR_000310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000310	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	37	COG1960	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	VAR_000310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000310	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	25	cd01151	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	VAR_000310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000310	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	4	cd01159	4557233,NP_000008
35	113019	Disease	p.Arg46Trp	VAR_000310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000310	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	4	cd01163	4557233,NP_000008
35	113019	Disease	p.Gly90Ser	VAR_013565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013565	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	139	pfam02771	4557233,NP_000008
35	113019	Disease	p.Gly90Ser	VAR_013565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013565	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	60	cd01156	4557233,NP_000008
35	113019	Disease	p.Gly90Ser	VAR_013565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013565	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	55	cd01158	4557233,NP_000008
35	113019	Disease	p.Gly90Ser	VAR_013565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013565	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	69	cd01155	4557233,NP_000008
35	113019	Disease	p.Gly90Ser	VAR_013565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013565	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	68	cd01152	4557233,NP_000008
35	113019	Disease	p.Gly90Ser	VAR_013565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013565	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	55	cd01160	4557233,NP_000008
35	113019	Disease	p.Gly90Ser	VAR_013565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013565	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	71	cd00567	4557233,NP_000008
35	113019	Disease	p.Gly90Ser	VAR_013565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013565	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	90	cd01161	4557233,NP_000008
35	113019	Disease	p.Gly90Ser	VAR_013565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013565	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	63	cd01153	4557233,NP_000008
35	113019	Disease	p.Gly90Ser	VAR_013565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013565	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	85	cd01154	4557233,NP_000008
35	113019	Disease	p.Gly90Ser	VAR_013565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013565	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	57	cd01157	4557233,NP_000008
35	113019	Disease	p.Gly90Ser	VAR_013565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013565	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	57	cd01162	4557233,NP_000008
35	113019	Disease	p.Gly90Ser	VAR_013565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013565	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	132	COG1960	4557233,NP_000008
35	113019	Disease	p.Gly90Ser	VAR_013565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013565	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	71	cd01151	4557233,NP_000008
35	113019	Disease	p.Gly90Ser	VAR_013565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013565	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	47	cd01159	4557233,NP_000008
35	113019	Disease	p.Gly90Ser	VAR_013565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013565	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	47	cd01163	4557233,NP_000008
35	113019	Disease	p.Gly92Cys	VAR_000311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000311	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	145	pfam02771	4557233,NP_000008
35	113019	Disease	p.Gly92Cys	VAR_000311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000311	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	62	cd01156	4557233,NP_000008
35	113019	Disease	p.Gly92Cys	VAR_000311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000311	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	57	cd01158	4557233,NP_000008
35	113019	Disease	p.Gly92Cys	VAR_000311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000311	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	71	cd01155	4557233,NP_000008
35	113019	Disease	p.Gly92Cys	VAR_000311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000311	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	70	cd01152	4557233,NP_000008
35	113019	Disease	p.Gly92Cys	VAR_000311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000311	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	57	cd01160	4557233,NP_000008
35	113019	Disease	p.Gly92Cys	VAR_000311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000311	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	73	cd00567	4557233,NP_000008
35	113019	Disease	p.Gly92Cys	VAR_000311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000311	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	92	cd01161	4557233,NP_000008
35	113019	Disease	p.Gly92Cys	VAR_000311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000311	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	65	cd01153	4557233,NP_000008
35	113019	Disease	p.Gly92Cys	VAR_000311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000311	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	87	cd01154	4557233,NP_000008
35	113019	Disease	p.Gly92Cys	VAR_000311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000311	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	59	cd01157	4557233,NP_000008
35	113019	Disease	p.Gly92Cys	VAR_000311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000311	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	59	cd01162	4557233,NP_000008
35	113019	Disease	p.Gly92Cys	VAR_000311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000311	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	156	COG1960	4557233,NP_000008
35	113019	Disease	p.Gly92Cys	VAR_000311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000311	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	73	cd01151	4557233,NP_000008
35	113019	Disease	p.Gly92Cys	VAR_000311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000311	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	49	cd01159	4557233,NP_000008
35	113019	Disease	p.Gly92Cys	VAR_000311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000311	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	49	cd01163	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	VAR_000312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000312	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	180	pfam02771	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	VAR_000312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000312	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	77	cd01156	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	VAR_000312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000312	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	75	cd01158	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	VAR_000312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000312	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	111	cd01155	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	VAR_000312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000312	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	85	cd01152	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	VAR_000312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000312	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	73	cd01160	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	VAR_000312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000312	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	91	cd00567	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	VAR_000312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000312	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	107	cd01161	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	VAR_000312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000312	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	81	cd01153	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	VAR_000312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000312	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	106	cd01154	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	VAR_000312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000312	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	74	cd01157	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	VAR_000312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000312	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	74	cd01162	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	VAR_000312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000312	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	171	COG1960	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	VAR_000312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000312	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	88	cd01151	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	VAR_000312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000312	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	64	cd01159	4557233,NP_000008
35	113019	Disease	p.Arg107Cys	VAR_000312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000312	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	64	cd01163	4557233,NP_000008
35	113019	Disease	p.Trp177Arg	VAR_000314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000314	rs57443665 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	147	cd01156	4557233,NP_000008
35	113019	Disease	p.Trp177Arg	VAR_000314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000314	rs57443665 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	146	cd01158	4557233,NP_000008
35	113019	Disease	p.Trp177Arg	VAR_000314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000314	rs57443665 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	184	cd01155	4557233,NP_000008
35	113019	Disease	p.Trp177Arg	VAR_000314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000314	rs57443665 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	157	cd01152	4557233,NP_000008
35	113019	Disease	p.Trp177Arg	VAR_000314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000314	rs57443665 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	144	cd01160	4557233,NP_000008
35	113019	Disease	p.Trp177Arg	VAR_000314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000314	rs57443665 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	182	cd00567	4557233,NP_000008
35	113019	Disease	p.Trp177Arg	VAR_000314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000314	rs57443665 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	179	cd01161	4557233,NP_000008
35	113019	Disease	p.Trp177Arg	VAR_000314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000314	rs57443665 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	155	cd01153	4557233,NP_000008
35	113019	Disease	p.Trp177Arg	VAR_000314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000314	rs57443665 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	201	cd01154	4557233,NP_000008
35	113019	Disease	p.Trp177Arg	VAR_000314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000314	rs57443665 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	143	cd01157	4557233,NP_000008
35	113019	Disease	p.Trp177Arg	VAR_000314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000314	rs57443665 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	147	cd01162	4557233,NP_000008
35	113019	Disease	p.Trp177Arg	VAR_000314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000314	rs57443665 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	43	pfam02770	4557233,NP_000008
35	113019	Disease	p.Trp177Arg	VAR_000314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000314	rs57443665 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	272	COG1960	4557233,NP_000008
35	113019	Disease	p.Trp177Arg	VAR_000314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000314	rs57443665 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	161	cd01151	4557233,NP_000008
35	113019	Disease	p.Trp177Arg	VAR_000314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000314	rs57443665 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	126	cd01159	4557233,NP_000008
35	113019	Disease	p.Trp177Arg	VAR_000314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000314	rs57443665 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	138	cd01163	4557233,NP_000008
35	113019	Disease	p.Ala192Val	VAR_013568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013568	rs28940874 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	162	cd01156	4557233,NP_000008
35	113019	Disease	p.Ala192Val	VAR_013568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013568	rs28940874 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	161	cd01158	4557233,NP_000008
35	113019	Disease	p.Ala192Val	VAR_013568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013568	rs28940874 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	201	cd01155	4557233,NP_000008
35	113019	Disease	p.Ala192Val	VAR_013568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013568	rs28940874 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	172	cd01152	4557233,NP_000008
35	113019	Disease	p.Ala192Val	VAR_013568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013568	rs28940874 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	159	cd01160	4557233,NP_000008
35	113019	Disease	p.Ala192Val	VAR_013568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013568	rs28940874 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	208	cd00567	4557233,NP_000008
35	113019	Disease	p.Ala192Val	VAR_013568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013568	rs28940874 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	194	cd01161	4557233,NP_000008
35	113019	Disease	p.Ala192Val	VAR_013568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013568	rs28940874 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	170	cd01153	4557233,NP_000008
35	113019	Disease	p.Ala192Val	VAR_013568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013568	rs28940874 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	217	cd01154	4557233,NP_000008
35	113019	Disease	p.Ala192Val	VAR_013568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013568	rs28940874 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	158	cd01157	4557233,NP_000008
35	113019	Disease	p.Ala192Val	VAR_013568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013568	rs28940874 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	162	cd01162	4557233,NP_000008
35	113019	Disease	p.Ala192Val	VAR_013568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013568	rs28940874 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	66	pfam02770	4557233,NP_000008
35	113019	Disease	p.Ala192Val	VAR_013568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013568	rs28940874 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	292	COG1960	4557233,NP_000008
35	113019	Disease	p.Ala192Val	VAR_013568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013568	rs28940874 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	176	cd01151	4557233,NP_000008
35	113019	Disease	p.Ala192Val	VAR_013568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013568	rs28940874 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	141	cd01159	4557233,NP_000008
35	113019	Disease	p.Ala192Val	VAR_013568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013568	rs28940874 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	153	cd01163	4557233,NP_000008
35	113019	Disease	p.Arg325Trp	VAR_013569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013569	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	297	cd01156	4557233,NP_000008
35	113019	Disease	p.Arg325Trp	VAR_013569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013569	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	296	cd01158	4557233,NP_000008
35	113019	Disease	p.Arg325Trp	VAR_013569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013569	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	354	cd01155	4557233,NP_000008
35	113019	Disease	p.Arg325Trp	VAR_013569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013569	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	311	cd01152	4557233,NP_000008
35	113019	Disease	p.Arg325Trp	VAR_013569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013569	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	294	cd01160	4557233,NP_000008
35	113019	Disease	p.Arg325Trp	VAR_013569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013569	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	383	cd00567	4557233,NP_000008
35	113019	Disease	p.Arg325Trp	VAR_013569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013569	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	335	cd01161	4557233,NP_000008
35	113019	Disease	p.Arg325Trp	VAR_013569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013569	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	60	pfam08028	4557233,NP_000008
35	113019	Disease	p.Arg325Trp	VAR_013569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013569	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	351	cd01153	4557233,NP_000008
35	113019	Disease	p.Arg325Trp	VAR_013569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013569	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	73	pfam00441	4557233,NP_000008
35	113019	Disease	p.Arg325Trp	VAR_013569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013569	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	366	cd01154	4557233,NP_000008
35	113019	Disease	p.Arg325Trp	VAR_013569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013569	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	294	cd01157	4557233,NP_000008
35	113019	Disease	p.Arg325Trp	VAR_013569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013569	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	299	cd01162	4557233,NP_000008
35	113019	Disease	p.Arg325Trp	VAR_013569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013569	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	494	COG1960	4557233,NP_000008
35	113019	Disease	p.Arg325Trp	VAR_013569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013569	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	315	cd01151	4557233,NP_000008
35	113019	Disease	p.Arg325Trp	VAR_013569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013569	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	302	cd01159	4557233,NP_000008
35	113019	Disease	p.Arg325Trp	VAR_013569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013569	- Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	312	cd01163	4557233,NP_000008
35	113019	Disease	p.Ser353Leu	VAR_013570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013570	rs28941773 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	330	cd01156	4557233,NP_000008
35	113019	Disease	p.Ser353Leu	VAR_013570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013570	rs28941773 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	325	cd01158	4557233,NP_000008
35	113019	Disease	p.Ser353Leu	VAR_013570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013570	rs28941773 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	384	cd01155	4557233,NP_000008
35	113019	Disease	p.Ser353Leu	VAR_013570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013570	rs28941773 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	342	cd01152	4557233,NP_000008
35	113019	Disease	p.Ser353Leu	VAR_013570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013570	rs28941773 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	322	cd01160	4557233,NP_000008
35	113019	Disease	p.Ser353Leu	VAR_013570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013570	rs28941773 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	424	cd00567	4557233,NP_000008
35	113019	Disease	p.Ser353Leu	VAR_013570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013570	rs28941773 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	379	cd01161	4557233,NP_000008
35	113019	Disease	p.Ser353Leu	VAR_013570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013570	rs28941773 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	105	pfam08028	4557233,NP_000008
35	113019	Disease	p.Ser353Leu	VAR_013570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013570	rs28941773 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	398	cd01153	4557233,NP_000008
35	113019	Disease	p.Ser353Leu	VAR_013570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013570	rs28941773 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	113	pfam00441	4557233,NP_000008
35	113019	Disease	p.Ser353Leu	VAR_013570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013570	rs28941773 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	406	cd01154	4557233,NP_000008
35	113019	Disease	p.Ser353Leu	VAR_013570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013570	rs28941773 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	322	cd01157	4557233,NP_000008
35	113019	Disease	p.Ser353Leu	VAR_013570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013570	rs28941773 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	328	cd01162	4557233,NP_000008
35	113019	Disease	p.Ser353Leu	VAR_013570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013570	rs28941773 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	563	COG1960	4557233,NP_000008
35	113019	Disease	p.Ser353Leu	VAR_013570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013570	rs28941773 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	343	cd01151	4557233,NP_000008
35	113019	Disease	p.Ser353Leu	VAR_013570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013570	rs28941773 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	339	cd01159	4557233,NP_000008
35	113019	Disease	p.Ser353Leu	VAR_013570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013570	rs28941773 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	361	cd01163	4557233,NP_000008
35	113019	Disease	p.Arg380Trp	VAR_013571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013571	rs28940875 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	357	cd01156	4557233,NP_000008
35	113019	Disease	p.Arg380Trp	VAR_013571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013571	rs28940875 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	352	cd01158	4557233,NP_000008
35	113019	Disease	p.Arg380Trp	VAR_013571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013571	rs28940875 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	411	cd01155	4557233,NP_000008
35	113019	Disease	p.Arg380Trp	VAR_013571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013571	rs28940875 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	388	cd01152	4557233,NP_000008
35	113019	Disease	p.Arg380Trp	VAR_013571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013571	rs28940875 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	349	cd01160	4557233,NP_000008
35	113019	Disease	p.Arg380Trp	VAR_013571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013571	rs28940875 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	470	cd00567	4557233,NP_000008
35	113019	Disease	p.Arg380Trp	VAR_013571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013571	rs28940875 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	406	cd01161	4557233,NP_000008
35	113019	Disease	p.Arg380Trp	VAR_013571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013571	rs28940875 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	132	pfam08028	4557233,NP_000008
35	113019	Disease	p.Arg380Trp	VAR_013571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013571	rs28940875 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	425	cd01153	4557233,NP_000008
35	113019	Disease	p.Arg380Trp	VAR_013571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013571	rs28940875 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	150	pfam00441	4557233,NP_000008
35	113019	Disease	p.Arg380Trp	VAR_013571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013571	rs28940875 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	433	cd01154	4557233,NP_000008
35	113019	Disease	p.Arg380Trp	VAR_013571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013571	rs28940875 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	349	cd01157	4557233,NP_000008
35	113019	Disease	p.Arg380Trp	VAR_013571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013571	rs28940875 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	355	cd01162	4557233,NP_000008
35	113019	Disease	p.Arg380Trp	VAR_013571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013571	rs28940875 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	640	COG1960	4557233,NP_000008
35	113019	Disease	p.Arg380Trp	VAR_013571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013571	rs28940875 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	370	cd01151	4557233,NP_000008
35	113019	Disease	p.Arg380Trp	VAR_013571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013571	rs28940875 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	369	cd01159	4557233,NP_000008
35	113019	Disease	p.Arg380Trp	VAR_013571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013571	rs28940875 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	388	cd01163	4557233,NP_000008
35	113019	Disease	p.Arg383Cys	VAR_000316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000316	rs28940872 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	360	cd01156	4557233,NP_000008
35	113019	Disease	p.Arg383Cys	VAR_000316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000316	rs28940872 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	355	cd01158	4557233,NP_000008
35	113019	Disease	p.Arg383Cys	VAR_000316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000316	rs28940872 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	414	cd01155	4557233,NP_000008
35	113019	Disease	p.Arg383Cys	VAR_000316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000316	rs28940872 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	391	cd01152	4557233,NP_000008
35	113019	Disease	p.Arg383Cys	VAR_000316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000316	rs28940872 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	352	cd01160	4557233,NP_000008
35	113019	Disease	p.Arg383Cys	VAR_000316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000316	rs28940872 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	473	cd00567	4557233,NP_000008
35	113019	Disease	p.Arg383Cys	VAR_000316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000316	rs28940872 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	409	cd01161	4557233,NP_000008
35	113019	Disease	p.Arg383Cys	VAR_000316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000316	rs28940872 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	135	pfam08028	4557233,NP_000008
35	113019	Disease	p.Arg383Cys	VAR_000316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000316	rs28940872 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	428	cd01153	4557233,NP_000008
35	113019	Disease	p.Arg383Cys	VAR_000316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000316	rs28940872 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	153	pfam00441	4557233,NP_000008
35	113019	Disease	p.Arg383Cys	VAR_000316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000316	rs28940872 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	436	cd01154	4557233,NP_000008
35	113019	Disease	p.Arg383Cys	VAR_000316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000316	rs28940872 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	352	cd01157	4557233,NP_000008
35	113019	Disease	p.Arg383Cys	VAR_000316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000316	rs28940872 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	358	cd01162	4557233,NP_000008
35	113019	Disease	p.Arg383Cys	VAR_000316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000316	rs28940872 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	643	COG1960	4557233,NP_000008
35	113019	Disease	p.Arg383Cys	VAR_000316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000316	rs28940872 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	373	cd01151	4557233,NP_000008
35	113019	Disease	p.Arg383Cys	VAR_000316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000316	rs28940872 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	372	cd01159	4557233,NP_000008
35	113019	Disease	p.Arg383Cys	VAR_000316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000316	rs28940872 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]	SWISS	391	cd01163	4557233,NP_000008
36	1168283	Disease	p.Leu255Phe	VAR_013010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013010	- Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]	SWISS	197	cd01163	4501859,NP_001600
36	1168283	Disease	p.Leu255Phe	VAR_013010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013010	- Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]	SWISS	189	cd01159	4501859,NP_001600
36	1168283	Disease	p.Leu255Phe	VAR_013010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013010	- Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]	SWISS	360	COG1960	4501859,NP_001600
36	1168283	Disease	p.Leu255Phe	VAR_013010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013010	- Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]	SWISS	232	cd01153	4501859,NP_001600
36	1168283	Disease	p.Leu255Phe	VAR_013010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013010	- Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]	SWISS	204	cd01162	4501859,NP_001600
36	1168283	Disease	p.Leu255Phe	VAR_013010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013010	- Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]	SWISS	202	cd01157	4501859,NP_001600
36	1168283	Disease	p.Leu255Phe	VAR_013010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013010	- Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]	SWISS	268	cd01154	4501859,NP_001600
36	1168283	Disease	p.Leu255Phe	VAR_013010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013010	- Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]	SWISS	240	cd01161	4501859,NP_001600
36	1168283	Disease	p.Leu255Phe	VAR_013010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013010	- Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]	SWISS	271	cd00567	4501859,NP_001600
36	1168283	Disease	p.Leu255Phe	VAR_013010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013010	- Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]	SWISS	202	cd01160	4501859,NP_001600
36	1168283	Disease	p.Leu255Phe	VAR_013010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013010	- Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]	SWISS	203	cd01158	4501859,NP_001600
36	1168283	Disease	p.Leu255Phe	VAR_013010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013010	- Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]	SWISS	211	cd01152	4501859,NP_001600
36	1168283	Disease	p.Leu255Phe	VAR_013010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013010	- Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]	SWISS	238	cd01155	4501859,NP_001600
36	1168283	Disease	p.Leu255Phe	VAR_013010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013010	- Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]	SWISS	205	cd01156	4501859,NP_001600
36	1168283	Disease	p.Leu255Phe	VAR_013010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013010	- Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]	SWISS	222	cd01151	4501859,NP_001600
37	1703068	Disease	p.Gly43Asp	VAR_000330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000330	rs2230178 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	No Domain	N/A	4557235,NP_000009
37	1703068	Disease	p.Thr158Asn	VAR_000332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000332	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	167	pfam02771	4557235,NP_000009
37	1703068	Disease	p.Thr158Asn	VAR_000332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000332	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	160	COG1960	4557235,NP_000009
37	1703068	Disease	p.Thr158Asn	VAR_000332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000332	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	63	cd01157	4557235,NP_000009
37	1703068	Disease	p.Thr158Asn	VAR_000332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000332	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	63	cd01162	4557235,NP_000009
37	1703068	Disease	p.Thr158Asn	VAR_000332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000332	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	53	cd01163	4557235,NP_000009
37	1703068	Disease	p.Thr158Asn	VAR_000332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000332	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	112	cd01150	4557235,NP_000009
37	1703068	Disease	p.Thr158Asn	VAR_000332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000332	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	106_G	cd01154	4557235,NP_000009
37	1703068	Disease	p.Thr158Asn	VAR_000332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000332	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	61	cd01160	4557235,NP_000009
37	1703068	Disease	p.Thr158Asn	VAR_000332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000332	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	77	cd01151	4557235,NP_000009
37	1703068	Disease	p.Thr158Asn	VAR_000332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000332	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	66	cd01156	4557235,NP_000009
37	1703068	Disease	p.Thr158Asn	VAR_000332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000332	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	69	cd01153	4557235,NP_000009
37	1703068	Disease	p.Thr158Asn	VAR_000332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000332	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	96	cd01161	4557235,NP_000009
37	1703068	Disease	p.Thr158Asn	VAR_000332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000332	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	100	cd01155	4557235,NP_000009
37	1703068	Disease	p.Thr158Asn	VAR_000332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000332	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	77	cd00567	4557235,NP_000009
37	1703068	Disease	p.Thr158Asn	VAR_000332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000332	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	64	cd01158	4557235,NP_000009
37	1703068	Disease	p.Thr158Asn	VAR_000332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000332	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	75	cd01152	4557235,NP_000009
37	1703068	Disease	p.Gln159Arg	VAR_000333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000333	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	168	pfam02771	4557235,NP_000009
37	1703068	Disease	p.Gln159Arg	VAR_000333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000333	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	161	COG1960	4557235,NP_000009
37	1703068	Disease	p.Gln159Arg	VAR_000333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000333	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	64	cd01157	4557235,NP_000009
37	1703068	Disease	p.Gln159Arg	VAR_000333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000333	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	64	cd01162	4557235,NP_000009
37	1703068	Disease	p.Gln159Arg	VAR_000333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000333	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	54	cd01163	4557235,NP_000009
37	1703068	Disease	p.Gln159Arg	VAR_000333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000333	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	113	cd01150	4557235,NP_000009
37	1703068	Disease	p.Gln159Arg	VAR_000333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000333	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	107	cd01154	4557235,NP_000009
37	1703068	Disease	p.Gln159Arg	VAR_000333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000333	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	62	cd01160	4557235,NP_000009
37	1703068	Disease	p.Gln159Arg	VAR_000333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000333	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	78	cd01151	4557235,NP_000009
37	1703068	Disease	p.Gln159Arg	VAR_000333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000333	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	67	cd01156	4557235,NP_000009
37	1703068	Disease	p.Gln159Arg	VAR_000333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000333	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	70	cd01153	4557235,NP_000009
37	1703068	Disease	p.Gln159Arg	VAR_000333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000333	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	97	cd01161	4557235,NP_000009
37	1703068	Disease	p.Gln159Arg	VAR_000333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000333	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	101	cd01155	4557235,NP_000009
37	1703068	Disease	p.Gln159Arg	VAR_000333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000333	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	78	cd00567	4557235,NP_000009
37	1703068	Disease	p.Gln159Arg	VAR_000333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000333	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	65	cd01158	4557235,NP_000009
37	1703068	Disease	p.Gln159Arg	VAR_000333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000333	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	76	cd01152	4557235,NP_000009
37	1703068	Disease	p.Val174Met	VAR_000334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000334	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	196	pfam02771	4557235,NP_000009
37	1703068	Disease	p.Val174Met	VAR_000334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000334	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	177	COG1960	4557235,NP_000009
37	1703068	Disease	p.Val174Met	VAR_000334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000334	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	79	cd01157	4557235,NP_000009
37	1703068	Disease	p.Val174Met	VAR_000334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000334	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	79	cd01162	4557235,NP_000009
37	1703068	Disease	p.Val174Met	VAR_000334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000334	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	69	cd01163	4557235,NP_000009
37	1703068	Disease	p.Val174Met	VAR_000334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000334	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	140	cd01150	4557235,NP_000009
37	1703068	Disease	p.Val174Met	VAR_000334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000334	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	122	cd01154	4557235,NP_000009
37	1703068	Disease	p.Val174Met	VAR_000334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000334	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	79	cd01160	4557235,NP_000009
37	1703068	Disease	p.Val174Met	VAR_000334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000334	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	93	cd01151	4557235,NP_000009
37	1703068	Disease	p.Val174Met	VAR_000334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000334	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	82	cd01156	4557235,NP_000009
37	1703068	Disease	p.Val174Met	VAR_000334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000334	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	86	cd01153	4557235,NP_000009
37	1703068	Disease	p.Val174Met	VAR_000334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000334	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	112	cd01161	4557235,NP_000009
37	1703068	Disease	p.Val174Met	VAR_000334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000334	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	132	cd01155	4557235,NP_000009
37	1703068	Disease	p.Val174Met	VAR_000334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000334	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	96	cd00567	4557235,NP_000009
37	1703068	Disease	p.Val174Met	VAR_000334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000334	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	80	cd01158	4557235,NP_000009
37	1703068	Disease	p.Val174Met	VAR_000334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000334	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	91	cd01152	4557235,NP_000009
37	1703068	Disease	p.Gly185Ser	VAR_000335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000335	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	213	pfam02771	4557235,NP_000009
37	1703068	Disease	p.Gly185Ser	VAR_000335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000335	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	188	COG1960	4557235,NP_000009
37	1703068	Disease	p.Gly185Ser	VAR_000335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000335	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	89	cd01157	4557235,NP_000009
37	1703068	Disease	p.Gly185Ser	VAR_000335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000335	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	90	cd01162	4557235,NP_000009
37	1703068	Disease	p.Gly185Ser	VAR_000335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000335	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	80	cd01163	4557235,NP_000009
37	1703068	Disease	p.Gly185Ser	VAR_000335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000335	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	151	cd01150	4557235,NP_000009
37	1703068	Disease	p.Gly185Ser	VAR_000335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000335	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	133_G	cd01154	4557235,NP_000009
37	1703068	Disease	p.Gly185Ser	VAR_000335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000335	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	90	cd01160	4557235,NP_000009
37	1703068	Disease	p.Gly185Ser	VAR_000335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000335	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	104	cd01151	4557235,NP_000009
37	1703068	Disease	p.Gly185Ser	VAR_000335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000335	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	93	cd01156	4557235,NP_000009
37	1703068	Disease	p.Gly185Ser	VAR_000335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000335	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	95	cd01153	4557235,NP_000009
37	1703068	Disease	p.Gly185Ser	VAR_000335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000335	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	123	cd01161	4557235,NP_000009
37	1703068	Disease	p.Gly185Ser	VAR_000335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000335	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	132_G	cd01155	4557235,NP_000009
37	1703068	Disease	p.Gly185Ser	VAR_000335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000335	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	107	cd00567	4557235,NP_000009
37	1703068	Disease	p.Gly185Ser	VAR_000335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000335	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	91	cd01158	4557235,NP_000009
37	1703068	Disease	p.Gly185Ser	VAR_000335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000335	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	104	cd01152	4557235,NP_000009
37	1703068	Disease	p.Ala213Pro	VAR_010101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010101	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	232	COG1960	4557235,NP_000009
37	1703068	Disease	p.Ala213Pro	VAR_010101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010101	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	117	cd01157	4557235,NP_000009
37	1703068	Disease	p.Ala213Pro	VAR_010101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010101	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	117	cd01162	4557235,NP_000009
37	1703068	Disease	p.Ala213Pro	VAR_010101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010101	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	109	cd01163	4557235,NP_000009
37	1703068	Disease	p.Ala213Pro	VAR_010101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010101	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	182	cd01150	4557235,NP_000009
37	1703068	Disease	p.Ala213Pro	VAR_010101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010101	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	173	cd01154	4557235,NP_000009
37	1703068	Disease	p.Ala213Pro	VAR_010101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010101	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	118	cd01160	4557235,NP_000009
37	1703068	Disease	p.Ala213Pro	VAR_010101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010101	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	132	cd01151	4557235,NP_000009
37	1703068	Disease	p.Ala213Pro	VAR_010101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010101	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	121	cd01156	4557235,NP_000009
37	1703068	Disease	p.Ala213Pro	VAR_010101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010101	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	124	cd01153	4557235,NP_000009
37	1703068	Disease	p.Ala213Pro	VAR_010101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010101	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	151	cd01161	4557235,NP_000009
37	1703068	Disease	p.Ala213Pro	VAR_010101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010101	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	157	cd01155	4557235,NP_000009
37	1703068	Disease	p.Ala213Pro	VAR_010101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010101	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	147	cd00567	4557235,NP_000009
37	1703068	Disease	p.Ala213Pro	VAR_010101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010101	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	119	cd01158	4557235,NP_000009
37	1703068	Disease	p.Ala213Pro	VAR_010101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010101	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	131	cd01152	4557235,NP_000009
37	1703068	Disease	p.Glu218Lys	VAR_000336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000336	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	6	pfam02770	4557235,NP_000009
37	1703068	Disease	p.Glu218Lys	VAR_000336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000336	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	237	COG1960	4557235,NP_000009
37	1703068	Disease	p.Glu218Lys	VAR_000336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000336	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	122	cd01157	4557235,NP_000009
37	1703068	Disease	p.Glu218Lys	VAR_000336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000336	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	122	cd01162	4557235,NP_000009
37	1703068	Disease	p.Glu218Lys	VAR_000336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000336	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	113	cd01163	4557235,NP_000009
37	1703068	Disease	p.Glu218Lys	VAR_000336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000336	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	187	cd01150	4557235,NP_000009
37	1703068	Disease	p.Glu218Lys	VAR_000336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000336	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	178	cd01154	4557235,NP_000009
37	1703068	Disease	p.Glu218Lys	VAR_000336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000336	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	123	cd01160	4557235,NP_000009
37	1703068	Disease	p.Glu218Lys	VAR_000336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000336	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	137	cd01151	4557235,NP_000009
37	1703068	Disease	p.Glu218Lys	VAR_000336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000336	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	126	cd01156	4557235,NP_000009
37	1703068	Disease	p.Glu218Lys	VAR_000336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000336	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	129	cd01153	4557235,NP_000009
37	1703068	Disease	p.Glu218Lys	VAR_000336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000336	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	156	cd01161	4557235,NP_000009
37	1703068	Disease	p.Glu218Lys	VAR_000336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000336	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	162	cd01155	4557235,NP_000009
37	1703068	Disease	p.Glu218Lys	VAR_000336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000336	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	152	cd00567	4557235,NP_000009
37	1703068	Disease	p.Glu218Lys	VAR_000336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000336	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	124	cd01158	4557235,NP_000009
37	1703068	Disease	p.Glu218Lys	VAR_000336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000336	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	136	cd01152	4557235,NP_000009
37	1703068	Disease	p.Leu243Arg	VAR_000337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000337	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	45	pfam02770	4557235,NP_000009
37	1703068	Disease	p.Leu243Arg	VAR_000337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000337	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	274	COG1960	4557235,NP_000009
37	1703068	Disease	p.Leu243Arg	VAR_000337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000337	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	145	cd01157	4557235,NP_000009
37	1703068	Disease	p.Leu243Arg	VAR_000337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000337	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	149	cd01162	4557235,NP_000009
37	1703068	Disease	p.Leu243Arg	VAR_000337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000337	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	140	cd01163	4557235,NP_000009
37	1703068	Disease	p.Leu243Arg	VAR_000337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000337	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	217	cd01150	4557235,NP_000009
37	1703068	Disease	p.Leu243Arg	VAR_000337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000337	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	203	cd01154	4557235,NP_000009
37	1703068	Disease	p.Leu243Arg	VAR_000337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000337	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	146	cd01160	4557235,NP_000009
37	1703068	Disease	p.Leu243Arg	VAR_000337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000337	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	163	cd01151	4557235,NP_000009
37	1703068	Disease	p.Leu243Arg	VAR_000337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000337	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	149	cd01156	4557235,NP_000009
37	1703068	Disease	p.Leu243Arg	VAR_000337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000337	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	157	cd01153	4557235,NP_000009
37	1703068	Disease	p.Leu243Arg	VAR_000337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000337	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	181	cd01161	4557235,NP_000009
37	1703068	Disease	p.Leu243Arg	VAR_000337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000337	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	186	cd01155	4557235,NP_000009
37	1703068	Disease	p.Leu243Arg	VAR_000337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000337	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	184	cd00567	4557235,NP_000009
37	1703068	Disease	p.Leu243Arg	VAR_000337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000337	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	148	cd01158	4557235,NP_000009
37	1703068	Disease	p.Leu243Arg	VAR_000337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000337	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	159	cd01152	4557235,NP_000009
37	1703068	Disease	p.Lys247Glu	VAR_010102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010102	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	54	pfam02770	4557235,NP_000009
37	1703068	Disease	p.Lys247Glu	VAR_010102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010102	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	283	COG1960	4557235,NP_000009
37	1703068	Disease	p.Lys247Glu	VAR_010102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010102	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	149	cd01157	4557235,NP_000009
37	1703068	Disease	p.Lys247Glu	VAR_010102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010102	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	153	cd01162	4557235,NP_000009
37	1703068	Disease	p.Lys247Glu	VAR_010102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010102	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	144	cd01163	4557235,NP_000009
37	1703068	Disease	p.Lys247Glu	VAR_010102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010102	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	221	cd01150	4557235,NP_000009
37	1703068	Disease	p.Lys247Glu	VAR_010102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010102	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	208	cd01154	4557235,NP_000009
37	1703068	Disease	p.Lys247Glu	VAR_010102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010102	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	150	cd01160	4557235,NP_000009
37	1703068	Disease	p.Lys247Glu	VAR_010102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010102	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	167	cd01151	4557235,NP_000009
37	1703068	Disease	p.Lys247Glu	VAR_010102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010102	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	153	cd01156	4557235,NP_000009
37	1703068	Disease	p.Lys247Glu	VAR_010102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010102	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	161	cd01153	4557235,NP_000009
37	1703068	Disease	p.Lys247Glu	VAR_010102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010102	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	185	cd01161	4557235,NP_000009
37	1703068	Disease	p.Lys247Glu	VAR_010102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010102	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	190	cd01155	4557235,NP_000009
37	1703068	Disease	p.Lys247Glu	VAR_010102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010102	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	193	cd00567	4557235,NP_000009
37	1703068	Disease	p.Lys247Glu	VAR_010102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010102	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	152	cd01158	4557235,NP_000009
37	1703068	Disease	p.Lys247Glu	VAR_010102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010102	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	163	cd01152	4557235,NP_000009
37	1703068	Disease	p.Lys247Thr	VAR_000338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000338	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	54	pfam02770	4557235,NP_000009
37	1703068	Disease	p.Lys247Thr	VAR_000338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000338	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	283	COG1960	4557235,NP_000009
37	1703068	Disease	p.Lys247Thr	VAR_000338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000338	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	149	cd01157	4557235,NP_000009
37	1703068	Disease	p.Lys247Thr	VAR_000338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000338	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	153	cd01162	4557235,NP_000009
37	1703068	Disease	p.Lys247Thr	VAR_000338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000338	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	144	cd01163	4557235,NP_000009
37	1703068	Disease	p.Lys247Thr	VAR_000338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000338	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	221	cd01150	4557235,NP_000009
37	1703068	Disease	p.Lys247Thr	VAR_000338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000338	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	208	cd01154	4557235,NP_000009
37	1703068	Disease	p.Lys247Thr	VAR_000338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000338	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	150	cd01160	4557235,NP_000009
37	1703068	Disease	p.Lys247Thr	VAR_000338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000338	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	167	cd01151	4557235,NP_000009
37	1703068	Disease	p.Lys247Thr	VAR_000338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000338	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	153	cd01156	4557235,NP_000009
37	1703068	Disease	p.Lys247Thr	VAR_000338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000338	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	161	cd01153	4557235,NP_000009
37	1703068	Disease	p.Lys247Thr	VAR_000338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000338	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	185	cd01161	4557235,NP_000009
37	1703068	Disease	p.Lys247Thr	VAR_000338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000338	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	190	cd01155	4557235,NP_000009
37	1703068	Disease	p.Lys247Thr	VAR_000338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000338	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	193	cd00567	4557235,NP_000009
37	1703068	Disease	p.Lys247Thr	VAR_000338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000338	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	152	cd01158	4557235,NP_000009
37	1703068	Disease	p.Lys247Thr	VAR_000338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000338	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	163	cd01152	4557235,NP_000009
37	1703068	Disease	p.Thr260Met	VAR_000339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000339	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	74	pfam02770	4557235,NP_000009
37	1703068	Disease	p.Thr260Met	VAR_000339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000339	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	302	COG1960	4557235,NP_000009
37	1703068	Disease	p.Thr260Met	VAR_000339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000339	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	162	cd01157	4557235,NP_000009
37	1703068	Disease	p.Thr260Met	VAR_000339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000339	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	166	cd01162	4557235,NP_000009
37	1703068	Disease	p.Thr260Met	VAR_000339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000339	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	157	cd01163	4557235,NP_000009
37	1703068	Disease	p.Thr260Met	VAR_000339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000339	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	232	cd01150	4557235,NP_000009
37	1703068	Disease	p.Thr260Met	VAR_000339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000339	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	221	cd01154	4557235,NP_000009
37	1703068	Disease	p.Thr260Met	VAR_000339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000339	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	163	cd01160	4557235,NP_000009
37	1703068	Disease	p.Thr260Met	VAR_000339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000339	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	180	cd01151	4557235,NP_000009
37	1703068	Disease	p.Thr260Met	VAR_000339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000339	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	166	cd01156	4557235,NP_000009
37	1703068	Disease	p.Thr260Met	VAR_000339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000339	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	179	cd01153	4557235,NP_000009
37	1703068	Disease	p.Thr260Met	VAR_000339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000339	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	198	cd01161	4557235,NP_000009
37	1703068	Disease	p.Thr260Met	VAR_000339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000339	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	205	cd01155	4557235,NP_000009
37	1703068	Disease	p.Thr260Met	VAR_000339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000339	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	212	cd00567	4557235,NP_000009
37	1703068	Disease	p.Thr260Met	VAR_000339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000339	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	165	cd01158	4557235,NP_000009
37	1703068	Disease	p.Thr260Met	VAR_000339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000339	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	176	cd01152	4557235,NP_000009
37	1703068	Disease	p.Ala281Asp	VAR_000341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000341	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	324	COG1960	4557235,NP_000009
37	1703068	Disease	p.Ala281Asp	VAR_000341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000341	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	181	cd01157	4557235,NP_000009
37	1703068	Disease	p.Ala281Asp	VAR_000341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000341	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	183	cd01162	4557235,NP_000009
37	1703068	Disease	p.Ala281Asp	VAR_000341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000341	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	176	cd01163	4557235,NP_000009
37	1703068	Disease	p.Ala281Asp	VAR_000341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000341	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	257	cd01150	4557235,NP_000009
37	1703068	Disease	p.Ala281Asp	VAR_000341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000341	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	242	cd01154	4557235,NP_000009
37	1703068	Disease	p.Ala281Asp	VAR_000341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000341	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	181	cd01160	4557235,NP_000009
37	1703068	Disease	p.Ala281Asp	VAR_000341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000341	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	196	cd01151	4557235,NP_000009
37	1703068	Disease	p.Ala281Asp	VAR_000341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000341	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	184	cd01156	4557235,NP_000009
37	1703068	Disease	p.Ala281Asp	VAR_000341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000341	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	200	cd01153	4557235,NP_000009
37	1703068	Disease	p.Ala281Asp	VAR_000341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000341	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	219	cd01161	4557235,NP_000009
37	1703068	Disease	p.Ala281Asp	VAR_000341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000341	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	225	cd01155	4557235,NP_000009
37	1703068	Disease	p.Ala281Asp	VAR_000341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000341	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	237	cd00567	4557235,NP_000009
37	1703068	Disease	p.Ala281Asp	VAR_000341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000341	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	181	cd01158	4557235,NP_000009
37	1703068	Disease	p.Ala281Asp	VAR_000341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000341	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	196	cd01152	4557235,NP_000009
37	1703068	Disease	p.Val283Ala	VAR_000342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000342	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	326	COG1960	4557235,NP_000009
37	1703068	Disease	p.Val283Ala	VAR_000342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000342	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	183	cd01157	4557235,NP_000009
37	1703068	Disease	p.Val283Ala	VAR_000342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000342	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	185	cd01162	4557235,NP_000009
37	1703068	Disease	p.Val283Ala	VAR_000342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000342	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	178	cd01163	4557235,NP_000009
37	1703068	Disease	p.Val283Ala	VAR_000342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000342	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	259	cd01150	4557235,NP_000009
37	1703068	Disease	p.Val283Ala	VAR_000342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000342	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	244	cd01154	4557235,NP_000009
37	1703068	Disease	p.Val283Ala	VAR_000342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000342	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	183	cd01160	4557235,NP_000009
37	1703068	Disease	p.Val283Ala	VAR_000342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000342	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	198	cd01151	4557235,NP_000009
37	1703068	Disease	p.Val283Ala	VAR_000342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000342	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	186	cd01156	4557235,NP_000009
37	1703068	Disease	p.Val283Ala	VAR_000342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000342	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	202	cd01153	4557235,NP_000009
37	1703068	Disease	p.Val283Ala	VAR_000342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000342	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	221	cd01161	4557235,NP_000009
37	1703068	Disease	p.Val283Ala	VAR_000342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000342	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	227	cd01155	4557235,NP_000009
37	1703068	Disease	p.Val283Ala	VAR_000342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000342	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	239	cd00567	4557235,NP_000009
37	1703068	Disease	p.Val283Ala	VAR_000342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000342	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	183	cd01158	4557235,NP_000009
37	1703068	Disease	p.Val283Ala	VAR_000342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000342	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	198	cd01152	4557235,NP_000009
37	1703068	Disease	p.Gly290Asp	VAR_000343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000343	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	343	COG1960	4557235,NP_000009
37	1703068	Disease	p.Gly290Asp	VAR_000343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000343	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	190	cd01157	4557235,NP_000009
37	1703068	Disease	p.Gly290Asp	VAR_000343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000343	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	192	cd01162	4557235,NP_000009
37	1703068	Disease	p.Gly290Asp	VAR_000343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000343	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	185	cd01163	4557235,NP_000009
37	1703068	Disease	p.Gly290Asp	VAR_000343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000343	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	273	cd01150	4557235,NP_000009
37	1703068	Disease	p.Gly290Asp	VAR_000343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000343	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	251	cd01154	4557235,NP_000009
37	1703068	Disease	p.Gly290Asp	VAR_000343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000343	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	190	cd01160	4557235,NP_000009
37	1703068	Disease	p.Gly290Asp	VAR_000343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000343	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	210	cd01151	4557235,NP_000009
37	1703068	Disease	p.Gly290Asp	VAR_000343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000343	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	193	cd01156	4557235,NP_000009
37	1703068	Disease	p.Gly290Asp	VAR_000343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000343	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	220	cd01153	4557235,NP_000009
37	1703068	Disease	p.Gly290Asp	VAR_000343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000343	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	228	cd01161	4557235,NP_000009
37	1703068	Disease	p.Gly290Asp	VAR_000343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000343	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	234	cd01155	4557235,NP_000009
37	1703068	Disease	p.Gly290Asp	VAR_000343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000343	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	253	cd00567	4557235,NP_000009
37	1703068	Disease	p.Gly290Asp	VAR_000343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000343	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	191	cd01158	4557235,NP_000009
37	1703068	Disease	p.Gly290Asp	VAR_000343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000343	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	205	cd01152	4557235,NP_000009
37	1703068	Disease	p.Gly294Glu	VAR_000344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000344	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	347	COG1960	4557235,NP_000009
37	1703068	Disease	p.Gly294Glu	VAR_000344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000344	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	194	cd01157	4557235,NP_000009
37	1703068	Disease	p.Gly294Glu	VAR_000344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000344	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	196	cd01162	4557235,NP_000009
37	1703068	Disease	p.Gly294Glu	VAR_000344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000344	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	189	cd01163	4557235,NP_000009
37	1703068	Disease	p.Gly294Glu	VAR_000344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000344	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	277	cd01150	4557235,NP_000009
37	1703068	Disease	p.Gly294Glu	VAR_000344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000344	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	252	cd01154	4557235,NP_000009
37	1703068	Disease	p.Gly294Glu	VAR_000344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000344	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	194	cd01160	4557235,NP_000009
37	1703068	Disease	p.Gly294Glu	VAR_000344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000344	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	214	cd01151	4557235,NP_000009
37	1703068	Disease	p.Gly294Glu	VAR_000344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000344	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	197	cd01156	4557235,NP_000009
37	1703068	Disease	p.Gly294Glu	VAR_000344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000344	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	224	cd01153	4557235,NP_000009
37	1703068	Disease	p.Gly294Glu	VAR_000344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000344	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	232	cd01161	4557235,NP_000009
37	1703068	Disease	p.Gly294Glu	VAR_000344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000344	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	237_G	cd01155	4557235,NP_000009
37	1703068	Disease	p.Gly294Glu	VAR_000344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000344	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	257	cd00567	4557235,NP_000009
37	1703068	Disease	p.Gly294Glu	VAR_000344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000344	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	195	cd01158	4557235,NP_000009
37	1703068	Disease	p.Gly294Glu	VAR_000344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000344	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	209	cd01152	4557235,NP_000009
37	1703068	Disease	p.Lys299Asn	VAR_000345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000345	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	352	COG1960	4557235,NP_000009
37	1703068	Disease	p.Lys299Asn	VAR_000345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000345	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	199	cd01157	4557235,NP_000009
37	1703068	Disease	p.Lys299Asn	VAR_000345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000345	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	201	cd01162	4557235,NP_000009
37	1703068	Disease	p.Lys299Asn	VAR_000345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000345	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	194	cd01163	4557235,NP_000009
37	1703068	Disease	p.Lys299Asn	VAR_000345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000345	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	282	cd01150	4557235,NP_000009
37	1703068	Disease	p.Lys299Asn	VAR_000345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000345	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	265	cd01154	4557235,NP_000009
37	1703068	Disease	p.Lys299Asn	VAR_000345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000345	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	199	cd01160	4557235,NP_000009
37	1703068	Disease	p.Lys299Asn	VAR_000345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000345	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	219	cd01151	4557235,NP_000009
37	1703068	Disease	p.Lys299Asn	VAR_000345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000345	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	202	cd01156	4557235,NP_000009
37	1703068	Disease	p.Lys299Asn	VAR_000345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000345	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	229	cd01153	4557235,NP_000009
37	1703068	Disease	p.Lys299Asn	VAR_000345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000345	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	237	cd01161	4557235,NP_000009
37	1703068	Disease	p.Lys299Asn	VAR_000345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000345	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	240	cd01155	4557235,NP_000009
37	1703068	Disease	p.Lys299Asn	VAR_000345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000345	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	262	cd00567	4557235,NP_000009
37	1703068	Disease	p.Lys299Asn	VAR_000345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000345	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	200	cd01158	4557235,NP_000009
37	1703068	Disease	p.Lys299Asn	VAR_000345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000345	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	214	cd01152	4557235,NP_000009
37	1703068	Disease	p.Val317Ala	VAR_000347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000347	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	390	COG1960	4557235,NP_000009
37	1703068	Disease	p.Val317Ala	VAR_000347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000347	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	217	cd01157	4557235,NP_000009
37	1703068	Disease	p.Val317Ala	VAR_000347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000347	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	219	cd01162	4557235,NP_000009
37	1703068	Disease	p.Val317Ala	VAR_000347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000347	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	212	cd01163	4557235,NP_000009
37	1703068	Disease	p.Val317Ala	VAR_000347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000347	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	301	cd01150	4557235,NP_000009
37	1703068	Disease	p.Val317Ala	VAR_000347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000347	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	280_G	cd01154	4557235,NP_000009
37	1703068	Disease	p.Val317Ala	VAR_000347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000347	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	217	cd01160	4557235,NP_000009
37	1703068	Disease	p.Val317Ala	VAR_000347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000347	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	237	cd01151	4557235,NP_000009
37	1703068	Disease	p.Val317Ala	VAR_000347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000347	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	220	cd01156	4557235,NP_000009
37	1703068	Disease	p.Val317Ala	VAR_000347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000347	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	247	cd01153	4557235,NP_000009
37	1703068	Disease	p.Val317Ala	VAR_000347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000347	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	255	cd01161	4557235,NP_000009
37	1703068	Disease	p.Val317Ala	VAR_000347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000347	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	264	cd01155	4557235,NP_000009
37	1703068	Disease	p.Val317Ala	VAR_000347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000347	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	286	cd00567	4557235,NP_000009
37	1703068	Disease	p.Val317Ala	VAR_000347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000347	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	218	cd01158	4557235,NP_000009
37	1703068	Disease	p.Val317Ala	VAR_000347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000347	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	230	cd01152	4557235,NP_000009
37	1703068	Disease	p.Met352Val	VAR_000348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000348	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	11	pfam08028	4557235,NP_000009
37	1703068	Disease	p.Met352Val	VAR_000348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000348	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	439	COG1960	4557235,NP_000009
37	1703068	Disease	p.Met352Val	VAR_000348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000348	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	252	cd01157	4557235,NP_000009
37	1703068	Disease	p.Met352Val	VAR_000348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000348	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	257	cd01162	4557235,NP_000009
37	1703068	Disease	p.Met352Val	VAR_000348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000348	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	256	cd01163	4557235,NP_000009
37	1703068	Disease	p.Met352Val	VAR_000348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000348	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	357	cd01150	4557235,NP_000009
37	1703068	Disease	p.Met352Val	VAR_000348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000348	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	324	cd01154	4557235,NP_000009
37	1703068	Disease	p.Met352Val	VAR_000348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000348	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	252	cd01160	4557235,NP_000009
37	1703068	Disease	p.Met352Val	VAR_000348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000348	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	27	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Met352Val	VAR_000348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000348	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	272	cd01151	4557235,NP_000009
37	1703068	Disease	p.Met352Val	VAR_000348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000348	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	255	cd01156	4557235,NP_000009
37	1703068	Disease	p.Met352Val	VAR_000348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000348	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	296	cd01153	4557235,NP_000009
37	1703068	Disease	p.Met352Val	VAR_000348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000348	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	290	cd01161	4557235,NP_000009
37	1703068	Disease	p.Met352Val	VAR_000348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000348	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	310	cd01155	4557235,NP_000009
37	1703068	Disease	p.Met352Val	VAR_000348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000348	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	334	cd00567	4557235,NP_000009
37	1703068	Disease	p.Met352Val	VAR_000348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000348	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	253	cd01158	4557235,NP_000009
37	1703068	Disease	p.Met352Val	VAR_000348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000348	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	265	cd01152	4557235,NP_000009
37	1703068	Disease	p.Arg366Cys	VAR_000349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000349	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	26	pfam08028	4557235,NP_000009
37	1703068	Disease	p.Arg366Cys	VAR_000349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000349	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	453	COG1960	4557235,NP_000009
37	1703068	Disease	p.Arg366Cys	VAR_000349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000349	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	266	cd01157	4557235,NP_000009
37	1703068	Disease	p.Arg366Cys	VAR_000349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000349	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	271	cd01162	4557235,NP_000009
37	1703068	Disease	p.Arg366Cys	VAR_000349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000349	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	270	cd01163	4557235,NP_000009
37	1703068	Disease	p.Arg366Cys	VAR_000349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000349	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	371	cd01150	4557235,NP_000009
37	1703068	Disease	p.Arg366Cys	VAR_000349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000349	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	338	cd01154	4557235,NP_000009
37	1703068	Disease	p.Arg366Cys	VAR_000349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000349	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	266	cd01160	4557235,NP_000009
37	1703068	Disease	p.Arg366Cys	VAR_000349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000349	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	41	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Arg366Cys	VAR_000349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000349	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	286	cd01151	4557235,NP_000009
37	1703068	Disease	p.Arg366Cys	VAR_000349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000349	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	269	cd01156	4557235,NP_000009
37	1703068	Disease	p.Arg366Cys	VAR_000349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000349	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	310	cd01153	4557235,NP_000009
37	1703068	Disease	p.Arg366Cys	VAR_000349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000349	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	304	cd01161	4557235,NP_000009
37	1703068	Disease	p.Arg366Cys	VAR_000349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000349	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	326	cd01155	4557235,NP_000009
37	1703068	Disease	p.Arg366Cys	VAR_000349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000349	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	348	cd00567	4557235,NP_000009
37	1703068	Disease	p.Arg366Cys	VAR_000349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000349	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	268	cd01158	4557235,NP_000009
37	1703068	Disease	p.Arg366Cys	VAR_000349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000349	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	279	cd01152	4557235,NP_000009
37	1703068	Disease	p.Arg366His	VAR_000350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000350	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	26	pfam08028	4557235,NP_000009
37	1703068	Disease	p.Arg366His	VAR_000350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000350	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	453	COG1960	4557235,NP_000009
37	1703068	Disease	p.Arg366His	VAR_000350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000350	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	266	cd01157	4557235,NP_000009
37	1703068	Disease	p.Arg366His	VAR_000350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000350	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	271	cd01162	4557235,NP_000009
37	1703068	Disease	p.Arg366His	VAR_000350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000350	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	270	cd01163	4557235,NP_000009
37	1703068	Disease	p.Arg366His	VAR_000350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000350	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	371	cd01150	4557235,NP_000009
37	1703068	Disease	p.Arg366His	VAR_000350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000350	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	338	cd01154	4557235,NP_000009
37	1703068	Disease	p.Arg366His	VAR_000350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000350	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	266	cd01160	4557235,NP_000009
37	1703068	Disease	p.Arg366His	VAR_000350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000350	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	41	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Arg366His	VAR_000350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000350	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	286	cd01151	4557235,NP_000009
37	1703068	Disease	p.Arg366His	VAR_000350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000350	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	269	cd01156	4557235,NP_000009
37	1703068	Disease	p.Arg366His	VAR_000350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000350	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	310	cd01153	4557235,NP_000009
37	1703068	Disease	p.Arg366His	VAR_000350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000350	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	304	cd01161	4557235,NP_000009
37	1703068	Disease	p.Arg366His	VAR_000350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000350	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	326	cd01155	4557235,NP_000009
37	1703068	Disease	p.Arg366His	VAR_000350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000350	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	348	cd00567	4557235,NP_000009
37	1703068	Disease	p.Arg366His	VAR_000350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000350	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	268	cd01158	4557235,NP_000009
37	1703068	Disease	p.Arg366His	VAR_000350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000350	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	279	cd01152	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	VAR_000352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000352	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	48	pfam08028	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	VAR_000352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000352	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	482	COG1960	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	VAR_000352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000352	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	282	cd01157	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	VAR_000352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000352	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	287	cd01162	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	VAR_000352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000352	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	305_G	cd01163	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	VAR_000352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000352	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	395	cd01150	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	VAR_000352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000352	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	354	cd01154	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	VAR_000352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000352	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	282	cd01160	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	VAR_000352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000352	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	60	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	VAR_000352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000352	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	303	cd01151	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	VAR_000352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000352	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	285	cd01156	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	VAR_000352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000352	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	331	cd01153	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	VAR_000352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000352	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	320	cd01161	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	VAR_000352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000352	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	342	cd01155	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	VAR_000352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000352	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	371	cd00567	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	VAR_000352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000352	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	284	cd01158	4557235,NP_000009
37	1703068	Disease	p.Lys382Gln	VAR_000352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000352	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	299	cd01152	4557235,NP_000009
37	1703068	Disease	p.Asp405His	VAR_000353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000353	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	68	pfam08028	4557235,NP_000009
37	1703068	Disease	p.Asp405His	VAR_000353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000353	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	524	COG1960	4557235,NP_000009
37	1703068	Disease	p.Asp405His	VAR_000353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000353	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	305	cd01157	4557235,NP_000009
37	1703068	Disease	p.Asp405His	VAR_000353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000353	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	310	cd01162	4557235,NP_000009
37	1703068	Disease	p.Asp405His	VAR_000353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000353	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	327	cd01163	4557235,NP_000009
37	1703068	Disease	p.Asp405His	VAR_000353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000353	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	422	cd01150	4557235,NP_000009
37	1703068	Disease	p.Asp405His	VAR_000353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000353	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	376	cd01154	4557235,NP_000009
37	1703068	Disease	p.Asp405His	VAR_000353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000353	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	305	cd01160	4557235,NP_000009
37	1703068	Disease	p.Asp405His	VAR_000353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000353	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	87	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Asp405His	VAR_000353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000353	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	326	cd01151	4557235,NP_000009
37	1703068	Disease	p.Asp405His	VAR_000353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000353	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	308	cd01156	4557235,NP_000009
37	1703068	Disease	p.Asp405His	VAR_000353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000353	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	354	cd01153	4557235,NP_000009
37	1703068	Disease	p.Asp405His	VAR_000353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000353	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	343	cd01161	4557235,NP_000009
37	1703068	Disease	p.Asp405His	VAR_000353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000353	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	365	cd01155	4557235,NP_000009
37	1703068	Disease	p.Asp405His	VAR_000353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000353	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	394	cd00567	4557235,NP_000009
37	1703068	Disease	p.Asp405His	VAR_000353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000353	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	307	cd01158	4557235,NP_000009
37	1703068	Disease	p.Asp405His	VAR_000353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000353	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	322	cd01152	4557235,NP_000009
37	1703068	Disease	p.Gly441Asp	VAR_000354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000354	rs2309689 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	123	pfam08028	4557235,NP_000009
37	1703068	Disease	p.Gly441Asp	VAR_000354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000354	rs2309689 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	621	COG1960	4557235,NP_000009
37	1703068	Disease	p.Gly441Asp	VAR_000354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000354	rs2309689 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	340	cd01157	4557235,NP_000009
37	1703068	Disease	p.Gly441Asp	VAR_000354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000354	rs2309689 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	346	cd01162	4557235,NP_000009
37	1703068	Disease	p.Gly441Asp	VAR_000354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000354	rs2309689 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	379	cd01163	4557235,NP_000009
37	1703068	Disease	p.Gly441Asp	VAR_000354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000354	rs2309689 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	476	cd01150	4557235,NP_000009
37	1703068	Disease	p.Gly441Asp	VAR_000354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000354	rs2309689 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	424	cd01154	4557235,NP_000009
37	1703068	Disease	p.Gly441Asp	VAR_000354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000354	rs2309689 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	340	cd01160	4557235,NP_000009
37	1703068	Disease	p.Gly441Asp	VAR_000354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000354	rs2309689 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	131	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Gly441Asp	VAR_000354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000354	rs2309689 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	361	cd01151	4557235,NP_000009
37	1703068	Disease	p.Gly441Asp	VAR_000354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000354	rs2309689 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	348	cd01156	4557235,NP_000009
37	1703068	Disease	p.Gly441Asp	VAR_000354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000354	rs2309689 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	416	cd01153	4557235,NP_000009
37	1703068	Disease	p.Gly441Asp	VAR_000354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000354	rs2309689 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	397	cd01161	4557235,NP_000009
37	1703068	Disease	p.Gly441Asp	VAR_000354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000354	rs2309689 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	402	cd01155	4557235,NP_000009
37	1703068	Disease	p.Gly441Asp	VAR_000354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000354	rs2309689 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	442	cd00567	4557235,NP_000009
37	1703068	Disease	p.Gly441Asp	VAR_000354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000354	rs2309689 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	343	cd01158	4557235,NP_000009
37	1703068	Disease	p.Gly441Asp	VAR_000354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000354	rs2309689 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	360	cd01152	4557235,NP_000009
37	1703068	Disease	p.Arg450His	VAR_000355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000355	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	132	pfam08028	4557235,NP_000009
37	1703068	Disease	p.Arg450His	VAR_000355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000355	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	640	COG1960	4557235,NP_000009
37	1703068	Disease	p.Arg450His	VAR_000355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000355	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	349	cd01157	4557235,NP_000009
37	1703068	Disease	p.Arg450His	VAR_000355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000355	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	355	cd01162	4557235,NP_000009
37	1703068	Disease	p.Arg450His	VAR_000355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000355	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	388	cd01163	4557235,NP_000009
37	1703068	Disease	p.Arg450His	VAR_000355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000355	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	485	cd01150	4557235,NP_000009
37	1703068	Disease	p.Arg450His	VAR_000355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000355	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	433	cd01154	4557235,NP_000009
37	1703068	Disease	p.Arg450His	VAR_000355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000355	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	349	cd01160	4557235,NP_000009
37	1703068	Disease	p.Arg450His	VAR_000355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000355	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	150	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Arg450His	VAR_000355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000355	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	370	cd01151	4557235,NP_000009
37	1703068	Disease	p.Arg450His	VAR_000355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000355	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	357	cd01156	4557235,NP_000009
37	1703068	Disease	p.Arg450His	VAR_000355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000355	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	425	cd01153	4557235,NP_000009
37	1703068	Disease	p.Arg450His	VAR_000355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000355	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	406	cd01161	4557235,NP_000009
37	1703068	Disease	p.Arg450His	VAR_000355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000355	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	417	cd01155	4557235,NP_000009
37	1703068	Disease	p.Arg450His	VAR_000355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000355	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	470	cd00567	4557235,NP_000009
37	1703068	Disease	p.Arg450His	VAR_000355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000355	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	352	cd01158	4557235,NP_000009
37	1703068	Disease	p.Arg450His	VAR_000355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000355	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	388	cd01152	4557235,NP_000009
37	1703068	Disease	p.Arg453Gln	VAR_000356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000356	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	135	pfam08028	4557235,NP_000009
37	1703068	Disease	p.Arg453Gln	VAR_000356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000356	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	643	COG1960	4557235,NP_000009
37	1703068	Disease	p.Arg453Gln	VAR_000356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000356	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	352	cd01157	4557235,NP_000009
37	1703068	Disease	p.Arg453Gln	VAR_000356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000356	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	358	cd01162	4557235,NP_000009
37	1703068	Disease	p.Arg453Gln	VAR_000356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000356	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	391	cd01163	4557235,NP_000009
37	1703068	Disease	p.Arg453Gln	VAR_000356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000356	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	488	cd01150	4557235,NP_000009
37	1703068	Disease	p.Arg453Gln	VAR_000356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000356	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	436	cd01154	4557235,NP_000009
37	1703068	Disease	p.Arg453Gln	VAR_000356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000356	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	352	cd01160	4557235,NP_000009
37	1703068	Disease	p.Arg453Gln	VAR_000356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000356	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	153	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Arg453Gln	VAR_000356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000356	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	373	cd01151	4557235,NP_000009
37	1703068	Disease	p.Arg453Gln	VAR_000356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000356	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	360	cd01156	4557235,NP_000009
37	1703068	Disease	p.Arg453Gln	VAR_000356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000356	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	428	cd01153	4557235,NP_000009
37	1703068	Disease	p.Arg453Gln	VAR_000356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000356	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	409	cd01161	4557235,NP_000009
37	1703068	Disease	p.Arg453Gln	VAR_000356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000356	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	420	cd01155	4557235,NP_000009
37	1703068	Disease	p.Arg453Gln	VAR_000356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000356	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	473	cd00567	4557235,NP_000009
37	1703068	Disease	p.Arg453Gln	VAR_000356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000356	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	355	cd01158	4557235,NP_000009
37	1703068	Disease	p.Arg453Gln	VAR_000356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000356	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	391	cd01152	4557235,NP_000009
37	1703068	Disease	p.Asp454Asn	VAR_000357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000357	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	136	pfam08028	4557235,NP_000009
37	1703068	Disease	p.Asp454Asn	VAR_000357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000357	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	659	COG1960	4557235,NP_000009
37	1703068	Disease	p.Asp454Asn	VAR_000357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000357	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	353	cd01157	4557235,NP_000009
37	1703068	Disease	p.Asp454Asn	VAR_000357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000357	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	359	cd01162	4557235,NP_000009
37	1703068	Disease	p.Asp454Asn	VAR_000357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000357	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	392	cd01163	4557235,NP_000009
37	1703068	Disease	p.Asp454Asn	VAR_000357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000357	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	489	cd01150	4557235,NP_000009
37	1703068	Disease	p.Asp454Asn	VAR_000357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000357	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	437	cd01154	4557235,NP_000009
37	1703068	Disease	p.Asp454Asn	VAR_000357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000357	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	353	cd01160	4557235,NP_000009
37	1703068	Disease	p.Asp454Asn	VAR_000357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000357	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	154	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Asp454Asn	VAR_000357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000357	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	374	cd01151	4557235,NP_000009
37	1703068	Disease	p.Asp454Asn	VAR_000357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000357	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	361	cd01156	4557235,NP_000009
37	1703068	Disease	p.Asp454Asn	VAR_000357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000357	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	429	cd01153	4557235,NP_000009
37	1703068	Disease	p.Asp454Asn	VAR_000357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000357	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	410	cd01161	4557235,NP_000009
37	1703068	Disease	p.Asp454Asn	VAR_000357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000357	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	437	cd01155	4557235,NP_000009
37	1703068	Disease	p.Asp454Asn	VAR_000357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000357	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	474	cd00567	4557235,NP_000009
37	1703068	Disease	p.Asp454Asn	VAR_000357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000357	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	356	cd01158	4557235,NP_000009
37	1703068	Disease	p.Asp454Asn	VAR_000357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000357	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	392	cd01152	4557235,NP_000009
37	1703068	Disease	p.Arg456His	VAR_000358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000358	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	138	pfam08028	4557235,NP_000009
37	1703068	Disease	p.Arg456His	VAR_000358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000358	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	661	COG1960	4557235,NP_000009
37	1703068	Disease	p.Arg456His	VAR_000358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000358	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	355	cd01157	4557235,NP_000009
37	1703068	Disease	p.Arg456His	VAR_000358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000358	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	361	cd01162	4557235,NP_000009
37	1703068	Disease	p.Arg456His	VAR_000358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000358	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	394	cd01163	4557235,NP_000009
37	1703068	Disease	p.Arg456His	VAR_000358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000358	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	491	cd01150	4557235,NP_000009
37	1703068	Disease	p.Arg456His	VAR_000358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000358	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	439	cd01154	4557235,NP_000009
37	1703068	Disease	p.Arg456His	VAR_000358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000358	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	355	cd01160	4557235,NP_000009
37	1703068	Disease	p.Arg456His	VAR_000358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000358	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	156	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Arg456His	VAR_000358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000358	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	376	cd01151	4557235,NP_000009
37	1703068	Disease	p.Arg456His	VAR_000358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000358	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	363	cd01156	4557235,NP_000009
37	1703068	Disease	p.Arg456His	VAR_000358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000358	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	431	cd01153	4557235,NP_000009
37	1703068	Disease	p.Arg456His	VAR_000358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000358	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	412	cd01161	4557235,NP_000009
37	1703068	Disease	p.Arg456His	VAR_000358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000358	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	476	cd00567	4557235,NP_000009
37	1703068	Disease	p.Arg456His	VAR_000358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000358	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	358	cd01158	4557235,NP_000009
37	1703068	Disease	p.Arg456His	VAR_000358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000358	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	394	cd01152	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	VAR_010103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010103	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	140	pfam08028	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	VAR_010103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010103	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	663	COG1960	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	VAR_010103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010103	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	357	cd01157	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	VAR_010103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010103	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	363	cd01162	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	VAR_010103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010103	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	404	cd01163	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	VAR_010103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010103	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	493	cd01150	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	VAR_010103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010103	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	441	cd01154	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	VAR_010103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010103	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	357	cd01160	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	VAR_010103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010103	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	158	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	VAR_010103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010103	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	378	cd01151	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	VAR_010103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010103	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	365	cd01156	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	VAR_010103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010103	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	433	cd01153	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	VAR_010103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010103	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	414	cd01161	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	VAR_010103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010103	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	483	cd00567	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	VAR_010103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010103	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	360	cd01158	4557235,NP_000009
37	1703068	Disease	p.Phe458Leu	VAR_010103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010103	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	396	cd01152	4557235,NP_000009
37	1703068	Disease	p.Arg459Trp	VAR_000359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000359	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	141	pfam08028	4557235,NP_000009
37	1703068	Disease	p.Arg459Trp	VAR_000359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000359	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	664	COG1960	4557235,NP_000009
37	1703068	Disease	p.Arg459Trp	VAR_000359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000359	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	358	cd01157	4557235,NP_000009
37	1703068	Disease	p.Arg459Trp	VAR_000359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000359	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	364	cd01162	4557235,NP_000009
37	1703068	Disease	p.Arg459Trp	VAR_000359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000359	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	405	cd01163	4557235,NP_000009
37	1703068	Disease	p.Arg459Trp	VAR_000359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000359	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	494	cd01150	4557235,NP_000009
37	1703068	Disease	p.Arg459Trp	VAR_000359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000359	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	442	cd01154	4557235,NP_000009
37	1703068	Disease	p.Arg459Trp	VAR_000359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000359	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	358	cd01160	4557235,NP_000009
37	1703068	Disease	p.Arg459Trp	VAR_000359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000359	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	159	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Arg459Trp	VAR_000359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000359	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	379	cd01151	4557235,NP_000009
37	1703068	Disease	p.Arg459Trp	VAR_000359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000359	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	366	cd01156	4557235,NP_000009
37	1703068	Disease	p.Arg459Trp	VAR_000359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000359	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	434	cd01153	4557235,NP_000009
37	1703068	Disease	p.Arg459Trp	VAR_000359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000359	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	415	cd01161	4557235,NP_000009
37	1703068	Disease	p.Arg459Trp	VAR_000359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000359	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	484	cd00567	4557235,NP_000009
37	1703068	Disease	p.Arg459Trp	VAR_000359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000359	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	361	cd01158	4557235,NP_000009
37	1703068	Disease	p.Arg459Trp	VAR_000359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000359	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	397	cd01152	4557235,NP_000009
37	1703068	Disease	p.Gly463Glu	VAR_000360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000360	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	145	pfam08028	4557235,NP_000009
37	1703068	Disease	p.Gly463Glu	VAR_000360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000360	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	668	COG1960	4557235,NP_000009
37	1703068	Disease	p.Gly463Glu	VAR_000360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000360	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	362	cd01157	4557235,NP_000009
37	1703068	Disease	p.Gly463Glu	VAR_000360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000360	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	368	cd01162	4557235,NP_000009
37	1703068	Disease	p.Gly463Glu	VAR_000360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000360	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	416	cd01163	4557235,NP_000009
37	1703068	Disease	p.Gly463Glu	VAR_000360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000360	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	498	cd01150	4557235,NP_000009
37	1703068	Disease	p.Gly463Glu	VAR_000360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000360	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	446	cd01154	4557235,NP_000009
37	1703068	Disease	p.Gly463Glu	VAR_000360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000360	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	362	cd01160	4557235,NP_000009
37	1703068	Disease	p.Gly463Glu	VAR_000360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000360	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	164	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Gly463Glu	VAR_000360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000360	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	383	cd01151	4557235,NP_000009
37	1703068	Disease	p.Gly463Glu	VAR_000360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000360	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	370	cd01156	4557235,NP_000009
37	1703068	Disease	p.Gly463Glu	VAR_000360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000360	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	438	cd01153	4557235,NP_000009
37	1703068	Disease	p.Gly463Glu	VAR_000360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000360	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	419	cd01161	4557235,NP_000009
37	1703068	Disease	p.Gly463Glu	VAR_000360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000360	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	490	cd00567	4557235,NP_000009
37	1703068	Disease	p.Gly463Glu	VAR_000360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000360	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	365	cd01158	4557235,NP_000009
37	1703068	Disease	p.Gly463Glu	VAR_000360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000360	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	401	cd01152	4557235,NP_000009
37	1703068	Disease	p.Arg469Gln	VAR_000361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000361	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	674	COG1960	4557235,NP_000009
37	1703068	Disease	p.Arg469Gln	VAR_000361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000361	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	368	cd01157	4557235,NP_000009
37	1703068	Disease	p.Arg469Gln	VAR_000361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000361	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	374	cd01162	4557235,NP_000009
37	1703068	Disease	p.Arg469Gln	VAR_000361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000361	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	504	cd01150	4557235,NP_000009
37	1703068	Disease	p.Arg469Gln	VAR_000361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000361	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	457	cd01154	4557235,NP_000009
37	1703068	Disease	p.Arg469Gln	VAR_000361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000361	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	368	cd01160	4557235,NP_000009
37	1703068	Disease	p.Arg469Gln	VAR_000361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000361	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	171	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Arg469Gln	VAR_000361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000361	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	389	cd01151	4557235,NP_000009
37	1703068	Disease	p.Arg469Gln	VAR_000361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000361	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	376	cd01156	4557235,NP_000009
37	1703068	Disease	p.Arg469Gln	VAR_000361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000361	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	449	cd01153	4557235,NP_000009
37	1703068	Disease	p.Arg469Gln	VAR_000361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000361	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	425	cd01161	4557235,NP_000009
37	1703068	Disease	p.Arg469Gln	VAR_000361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000361	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	497	cd00567	4557235,NP_000009
37	1703068	Disease	p.Arg469Gln	VAR_000361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000361	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	371	cd01158	4557235,NP_000009
37	1703068	Disease	p.Arg469Gln	VAR_000361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000361	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	407	cd01152	4557235,NP_000009
37	1703068	Disease	p.Arg469Trp	VAR_000362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000362	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	674	COG1960	4557235,NP_000009
37	1703068	Disease	p.Arg469Trp	VAR_000362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000362	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	368	cd01157	4557235,NP_000009
37	1703068	Disease	p.Arg469Trp	VAR_000362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000362	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	374	cd01162	4557235,NP_000009
37	1703068	Disease	p.Arg469Trp	VAR_000362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000362	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	504	cd01150	4557235,NP_000009
37	1703068	Disease	p.Arg469Trp	VAR_000362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000362	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	457	cd01154	4557235,NP_000009
37	1703068	Disease	p.Arg469Trp	VAR_000362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000362	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	368	cd01160	4557235,NP_000009
37	1703068	Disease	p.Arg469Trp	VAR_000362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000362	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	171	pfam00441	4557235,NP_000009
37	1703068	Disease	p.Arg469Trp	VAR_000362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000362	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	389	cd01151	4557235,NP_000009
37	1703068	Disease	p.Arg469Trp	VAR_000362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000362	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	376	cd01156	4557235,NP_000009
37	1703068	Disease	p.Arg469Trp	VAR_000362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000362	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	449	cd01153	4557235,NP_000009
37	1703068	Disease	p.Arg469Trp	VAR_000362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000362	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	425	cd01161	4557235,NP_000009
37	1703068	Disease	p.Arg469Trp	VAR_000362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000362	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	497	cd00567	4557235,NP_000009
37	1703068	Disease	p.Arg469Trp	VAR_000362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000362	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	371	cd01158	4557235,NP_000009
37	1703068	Disease	p.Arg469Trp	VAR_000362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000362	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	407	cd01152	4557235,NP_000009
37	1703068	Disease	p.Ala490Pro	VAR_010104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010104	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	528	cd01150	4557235,NP_000009
37	1703068	Disease	p.Leu502Pro	VAR_000363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000363	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	558	cd01150	4557235,NP_000009
37	1703068	Disease	p.Glu534Lys	VAR_010105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010105	rs2230180 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	599	cd01150	4557235,NP_000009
37	1703068	Disease	p.Leu602Ile	VAR_000364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000364	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	680	cd01150	4557235,NP_000009
37	1703068	Disease	p.Arg613Trp	VAR_000365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000365	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	690	cd01150	4557235,NP_000009
37	1703068	Disease	p.Arg615Gln	VAR_010106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010106	- Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]	SWISS	692	cd01150	4557235,NP_000009
176	129886	Disease	p.Asp2266Asn	VAR_063053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063053	- Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]	SWISS	71	cd03600	NULL
176	129886	Disease	p.Asp2266Asn	VAR_063053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063053	- Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]	SWISS	121	cd00037	NULL
176	129886	Disease	p.Asp2266Asn	VAR_063053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063053	- Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]	SWISS	65	cd03602	NULL
176	129886	Disease	p.Asp2266Asn	VAR_063053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063053	- Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]	SWISS	82	cd03603	NULL
176	129886	Disease	p.Asp2266Asn	VAR_063053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063053	- Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]	SWISS	63	cd03598	NULL
176	129886	Disease	p.Asp2266Asn	VAR_063053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063053	- Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]	SWISS	81	cd03595	NULL
176	129886	Disease	p.Asp2266Asn	VAR_063053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063053	- Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]	SWISS	74	cd03601	NULL
176	129886	Disease	p.Asp2266Asn	VAR_063053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063053	- Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]	SWISS	59	cd03591	NULL
176	129886	Disease	p.Asp2266Asn	VAR_063053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063053	- Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]	SWISS	59	cd03592	NULL
176	129886	Disease	p.Asp2266Asn	VAR_063053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063053	- Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]	SWISS	197	smart00034	NULL
176	129886	Disease	p.Asp2266Asn	VAR_063053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063053	- Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]	SWISS	71	cd03593	NULL
176	129886	Disease	p.Asp2266Asn	VAR_063053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063053	- Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]	SWISS	77	cd03590	NULL
176	129886	Disease	p.Asp2266Asn	VAR_063053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063053	- Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]	SWISS	68	cd03596	NULL
176	129886	Disease	p.Asp2266Asn	VAR_063053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063053	- Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]	SWISS	77	cd03594	NULL
176	129886	Disease	p.Asp2266Asn	VAR_063053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063053	- Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]	SWISS	100	cd03589	NULL
176	129886	Disease	p.Asp2266Asn	VAR_063053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063053	- Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]	SWISS	62	cd03588	NULL
176	129886	Disease	p.Asp2266Asn	VAR_063053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063053	- Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]	SWISS	59	pfam00059	NULL
176	129886	Disease	p.Val2303Met	VAR_063765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063765	- Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]	SWISS	121	cd03600	NULL
176	129886	Disease	p.Val2303Met	VAR_063765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063765	- Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]	SWISS	227	cd00037	NULL
176	129886	Disease	p.Val2303Met	VAR_063765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063765	- Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]	SWISS	109	cd03602	NULL
176	129886	Disease	p.Val2303Met	VAR_063765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063765	- Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]	SWISS	165	cd03603	NULL
176	129886	Disease	p.Val2303Met	VAR_063765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063765	- Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]	SWISS	101	cd03598	NULL
176	129886	Disease	p.Val2303Met	VAR_063765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063765	- Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]	SWISS	121	cd03595	NULL
176	129886	Disease	p.Val2303Met	VAR_063765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063765	- Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]	SWISS	125	cd03601	NULL
176	129886	Disease	p.Val2303Met	VAR_063765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063765	- Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]	SWISS	97	cd03591	NULL
176	129886	Disease	p.Val2303Met	VAR_063765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063765	- Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]	SWISS	96	cd03592	NULL
176	129886	Disease	p.Val2303Met	VAR_063765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063765	- Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]	SWISS	293	smart00034	NULL
176	129886	Disease	p.Val2303Met	VAR_063765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063765	- Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]	SWISS	110	cd03593	NULL
176	129886	Disease	p.Val2303Met	VAR_063765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063765	- Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]	SWISS	130	cd03590	NULL
176	129886	Disease	p.Val2303Met	VAR_063765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063765	- Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]	SWISS	122	cd03596	NULL
176	129886	Disease	p.Val2303Met	VAR_063765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063765	- Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]	SWISS	119	cd03594	NULL
176	129886	Disease	p.Val2303Met	VAR_063765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063765	- Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]	SWISS	144	cd03589	NULL
176	129886	Disease	p.Val2303Met	VAR_063765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063765	- Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]	SWISS	99	cd03588	NULL
176	129886	Disease	p.Val2303Met	VAR_063765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063765	- Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]	SWISS	113	pfam00059	NULL
38	135755	Disease	p.Asn93Ser	VAR_007498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007498	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	95	COG0183	4557237,NP_000010
38	135755	Disease	p.Asn93Ser	VAR_007498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007498	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	60	pfam00108	4557237,NP_000010
38	135755	Disease	p.Asn93Ser	VAR_007498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007498	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	52	cd00826	4557237,NP_000010
38	135755	Disease	p.Asn93Ser	VAR_007498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007498	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	62	cd00829	4557237,NP_000010
38	135755	Disease	p.Asn93Ser	VAR_007498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007498	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	88	cd00751	4557237,NP_000010
38	135755	Disease	p.Asn93Ser	VAR_007498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007498	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	118	cd00327	4557237,NP_000010
38	135755	Disease	p.Gly152Ala	VAR_007499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007499	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	159	COG0183	4557237,NP_000010
38	135755	Disease	p.Gly152Ala	VAR_007499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007499	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	120	pfam00108	4557237,NP_000010
38	135755	Disease	p.Gly152Ala	VAR_007499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007499	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	111	cd00826	4557237,NP_000010
38	135755	Disease	p.Gly152Ala	VAR_007499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007499	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	145	cd00829	4557237,NP_000010
38	135755	Disease	p.Gly152Ala	VAR_007499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007499	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	162	cd00751	4557237,NP_000010
38	135755	Disease	p.Gly152Ala	VAR_007499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007499	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	205	cd00327	4557237,NP_000010
38	135755	Disease	p.Asn158Asp	VAR_007500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007500	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	165	COG0183	4557237,NP_000010
38	135755	Disease	p.Asn158Asp	VAR_007500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007500	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	126	pfam00108	4557237,NP_000010
38	135755	Disease	p.Asn158Asp	VAR_007500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007500	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	117	cd00826	4557237,NP_000010
38	135755	Disease	p.Asn158Asp	VAR_007500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007500	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	151	cd00829	4557237,NP_000010
38	135755	Disease	p.Asn158Asp	VAR_007500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007500	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	168	cd00751	4557237,NP_000010
38	135755	Disease	p.Asn158Asp	VAR_007500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007500	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	211	cd00327	4557237,NP_000010
38	135755	Disease	p.Gly183Arg	VAR_007501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007501	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	206	COG0183	4557237,NP_000010
38	135755	Disease	p.Gly183Arg	VAR_007501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007501	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	170	pfam00108	4557237,NP_000010
38	135755	Disease	p.Gly183Arg	VAR_007501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007501	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	143	cd00826	4557237,NP_000010
38	135755	Disease	p.Gly183Arg	VAR_007501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007501	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	191	cd00829	4557237,NP_000010
38	135755	Disease	p.Gly183Arg	VAR_007501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007501	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	229	cd00751	4557237,NP_000010
38	135755	Disease	p.Gly183Arg	VAR_007501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007501	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	237	cd00327	4557237,NP_000010
38	135755	Disease	p.Thr297Met	VAR_007502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007502	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	390	COG0183	4557237,NP_000010
38	135755	Disease	p.Thr297Met	VAR_007502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007502	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	289	pfam00108	4557237,NP_000010
38	135755	Disease	p.Thr297Met	VAR_007502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007502	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	266	cd00826	4557237,NP_000010
38	135755	Disease	p.Thr297Met	VAR_007502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007502	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	307	cd00829	4557237,NP_000010
38	135755	Disease	p.Thr297Met	VAR_007502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007502	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	407	cd00751	4557237,NP_000010
38	135755	Disease	p.Thr297Met	VAR_007502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007502	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	350	cd00327	4557237,NP_000010
38	135755	Disease	p.Ala301Pro	VAR_007503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007503	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	394	COG0183	4557237,NP_000010
38	135755	Disease	p.Ala301Pro	VAR_007503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007503	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	270	cd00826	4557237,NP_000010
38	135755	Disease	p.Ala301Pro	VAR_007503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007503	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	311	cd00829	4557237,NP_000010
38	135755	Disease	p.Ala301Pro	VAR_007503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007503	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	411	cd00751	4557237,NP_000010
38	135755	Disease	p.Ala301Pro	VAR_007503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007503	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	354	cd00327	4557237,NP_000010
38	135755	Disease	p.Ile312Thr	VAR_007504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007504	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	7	pfam02803	4557237,NP_000010
38	135755	Disease	p.Ile312Thr	VAR_007504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007504	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	429	COG0183	4557237,NP_000010
38	135755	Disease	p.Ile312Thr	VAR_007504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007504	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	288	cd00826	4557237,NP_000010
38	135755	Disease	p.Ile312Thr	VAR_007504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007504	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	333	cd00829	4557237,NP_000010
38	135755	Disease	p.Ile312Thr	VAR_007504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007504	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	424	cd00751	4557237,NP_000010
38	135755	Disease	p.Ile312Thr	VAR_007504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007504	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	372	cd00327	4557237,NP_000010
38	135755	Disease	p.Ala333Pro	VAR_007505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007505	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	29	pfam02803	4557237,NP_000010
38	135755	Disease	p.Ala333Pro	VAR_007505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007505	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	456	COG0183	4557237,NP_000010
38	135755	Disease	p.Ala333Pro	VAR_007505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007505	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	313	cd00826	4557237,NP_000010
38	135755	Disease	p.Ala333Pro	VAR_007505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007505	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	373	cd00829	4557237,NP_000010
38	135755	Disease	p.Ala333Pro	VAR_007505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007505	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	449	cd00751	4557237,NP_000010
38	135755	Disease	p.Ala333Pro	VAR_007505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007505	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	422	cd00327	4557237,NP_000010
38	135755	Disease	p.Gly379Val	VAR_007506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007506	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	93	pfam02803	4557237,NP_000010
38	135755	Disease	p.Gly379Val	VAR_007506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007506	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	532	COG0183	4557237,NP_000010
38	135755	Disease	p.Gly379Val	VAR_007506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007506	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	377	cd00826	4557237,NP_000010
38	135755	Disease	p.Gly379Val	VAR_007506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007506	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	461	cd00829	4557237,NP_000010
38	135755	Disease	p.Gly379Val	VAR_007506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007506	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	522	cd00751	4557237,NP_000010
38	135755	Disease	p.Gly379Val	VAR_007506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007506	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	486	cd00327	4557237,NP_000010
38	135755	Disease	p.Ala380Thr	VAR_007507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007507	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	94	pfam02803	4557237,NP_000010
38	135755	Disease	p.Ala380Thr	VAR_007507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007507	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	533	COG0183	4557237,NP_000010
38	135755	Disease	p.Ala380Thr	VAR_007507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007507	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	378	cd00826	4557237,NP_000010
38	135755	Disease	p.Ala380Thr	VAR_007507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007507	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	462	cd00829	4557237,NP_000010
38	135755	Disease	p.Ala380Thr	VAR_007507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007507	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	523	cd00751	4557237,NP_000010
38	135755	Disease	p.Ala380Thr	VAR_007507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007507	- 3-ketothiolase deficiency (3KTD) [MIM:203750]	SWISS	487	cd00327	4557237,NP_000010
51	126302511	Disease	p.Gly178Cys	VAR_025789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025789	- Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]	SWISS	286	COG1960	30089974,NP_009223
51	126302511	Disease	p.Gly178Cys	VAR_025789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025789	- Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]	SWISS	171	cd01151	30089974,NP_009223
51	126302511	Disease	p.Gly178Cys	VAR_025789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025789	- Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]	SWISS	225	cd01150	30089974,NP_009223
51	126302511	Disease	p.Gly178Cys	VAR_025789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025789	- Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]	SWISS	197	cd00567	30089974,NP_009223
51	126302511	Disease	p.Gly178Cys	VAR_025789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025789	- Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]	SWISS	189	cd01161	30089974,NP_009223
51	126302511	Disease	p.Gly178Cys	VAR_025789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025789	- Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]	SWISS	58	pfam02770	30089974,NP_009223
51	126302511	Disease	p.Met278Val	VAR_025790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025790	- Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]	SWISS	424	COG1960	30089974,NP_009223
51	126302511	Disease	p.Met278Val	VAR_025790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025790	- Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]	SWISS	257	cd01151	30089974,NP_009223
51	126302511	Disease	p.Met278Val	VAR_025790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025790	- Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]	SWISS	338	cd01150	30089974,NP_009223
51	126302511	Disease	p.Met278Val	VAR_025790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025790	- Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]	SWISS	319	cd00567	30089974,NP_009223
51	126302511	Disease	p.Met278Val	VAR_025790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025790	- Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]	SWISS	278_G	cd01161	30089974,NP_009223
2182	13432172	Disease	p.Arg570Ser	VAR_013180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013180	- Mental retardation X-linked type 63 (MRX63) [MIM:300387]	SWISS	523	COG0365	12669909,NP_075266
2182	13432172	Disease	p.Arg570Ser	VAR_013180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013180	- Mental retardation X-linked type 63 (MRX63) [MIM:300387]	SWISS	759	pfam00501	12669909,NP_075266
2182	13432172	Disease	p.Arg570Ser	VAR_013180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013180	- Mental retardation X-linked type 63 (MRX63) [MIM:300387]	SWISS	566	COG1022	12669909,NP_075266
2182	13432172	Disease	p.Arg570Ser	VAR_013180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013180	- Mental retardation X-linked type 63 (MRX63) [MIM:300387]	SWISS	1220	COG0318	12669909,NP_075266
58	61218043	Disease	p.Gly17Arg	VAR_011680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011680	- Congenital myopathy with excess of thin myofilaments (CM) [MIM:102610]	SWISS	11	smart00268	4501881,NP_001091
58	61218043	Disease	p.Gly17Arg	VAR_011680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011680	- Congenital myopathy with excess of thin myofilaments (CM) [MIM:102610]	SWISS	9	cd00012	4501881,NP_001091
58	61218043	Disease	p.Gly17Arg	VAR_011680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011680	- Congenital myopathy with excess of thin myofilaments (CM) [MIM:102610]	SWISS	22	COG5277	4501881,NP_001091
58	61218043	Disease	p.Gly17Arg	VAR_011680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011680	- Congenital myopathy with excess of thin myofilaments (CM) [MIM:102610]	SWISS	13	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Asp27Asn	VAR_062425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062425	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	21	smart00268	4501881,NP_001091
58	61218043	Disease	p.Asp27Asn	VAR_062425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062425	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	19	cd00012	4501881,NP_001091
58	61218043	Disease	p.Asp27Asn	VAR_062425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062425	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	32	COG5277	4501881,NP_001091
58	61218043	Disease	p.Asp27Asn	VAR_062425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062425	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	23	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Val37Leu	VAR_062426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062426	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	38	smart00268	4501881,NP_001091
58	61218043	Disease	p.Val37Leu	VAR_062426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062426	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	34	cd00012	4501881,NP_001091
58	61218043	Disease	p.Val37Leu	VAR_062426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062426	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	42	COG5277	4501881,NP_001091
58	61218043	Disease	p.Val37Leu	VAR_062426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062426	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	43	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Pro40Leu	VAR_062427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062427	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	41	smart00268	4501881,NP_001091
58	61218043	Disease	p.Pro40Leu	VAR_062427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062427	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	37	cd00012	4501881,NP_001091
58	61218043	Disease	p.Pro40Leu	VAR_062427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062427	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	45	COG5277	4501881,NP_001091
58	61218043	Disease	p.Pro40Leu	VAR_062427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062427	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	51	pfam00022	4501881,NP_001091
58	61218043	Disease	p.His42Tyr	VAR_015579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015579	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	43	smart00268	4501881,NP_001091
58	61218043	Disease	p.His42Tyr	VAR_015579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015579	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	39	cd00012	4501881,NP_001091
58	61218043	Disease	p.His42Tyr	VAR_015579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015579	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	65	COG5277	4501881,NP_001091
58	61218043	Disease	p.His42Tyr	VAR_015579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015579	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	53	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Gln43Arg	VAR_062428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062428	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	44	smart00268	4501881,NP_001091
58	61218043	Disease	p.Gln43Arg	VAR_062428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062428	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	40	cd00012	4501881,NP_001091
58	61218043	Disease	p.Gln43Arg	VAR_062428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062428	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	66	COG5277	4501881,NP_001091
58	61218043	Disease	p.Gln43Arg	VAR_062428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062428	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	54	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Gly44Val	VAR_062429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062429	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	48	smart00268	4501881,NP_001091
58	61218043	Disease	p.Gly44Val	VAR_062429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062429	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	41	cd00012	4501881,NP_001091
58	61218043	Disease	p.Gly44Val	VAR_062429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062429	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	67	COG5277	4501881,NP_001091
58	61218043	Disease	p.Gly44Val	VAR_062429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062429	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	61	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Val45Phe	VAR_062430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062430	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	49	smart00268	4501881,NP_001091
58	61218043	Disease	p.Val45Phe	VAR_062430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062430	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	42	cd00012	4501881,NP_001091
58	61218043	Disease	p.Val45Phe	VAR_062430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062430	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	68	COG5277	4501881,NP_001091
58	61218043	Disease	p.Val45Phe	VAR_062430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062430	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	62	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Ile66Asn	VAR_062431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062431	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	153	smart00268	4501881,NP_001091
58	61218043	Disease	p.Ile66Asn	VAR_062431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062431	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	173	cd00012	4501881,NP_001091
58	61218043	Disease	p.Ile66Asn	VAR_062431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062431	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	118	COG5277	4501881,NP_001091
58	61218043	Disease	p.Ile66Asn	VAR_062431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062431	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	120	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Thr68Ile	VAR_062432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062432	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	161	smart00268	4501881,NP_001091
58	61218043	Disease	p.Thr68Ile	VAR_062432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062432	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	187	cd00012	4501881,NP_001091
58	61218043	Disease	p.Thr68Ile	VAR_062432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062432	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	120	COG5277	4501881,NP_001091
58	61218043	Disease	p.Thr68Ile	VAR_062432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062432	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	122	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Glu74Lys	VAR_062433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062433	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	167	smart00268	4501881,NP_001091
58	61218043	Disease	p.Glu74Lys	VAR_062433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062433	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	193	cd00012	4501881,NP_001091
58	61218043	Disease	p.Glu74Lys	VAR_062433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062433	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	126	COG5277	4501881,NP_001091
58	61218043	Disease	p.Glu74Lys	VAR_062433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062433	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	129	pfam00022	4501881,NP_001091
58	61218043	Disease	p.His75Leu	VAR_062434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062434	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	168	smart00268	4501881,NP_001091
58	61218043	Disease	p.His75Leu	VAR_062434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062434	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	194	cd00012	4501881,NP_001091
58	61218043	Disease	p.His75Leu	VAR_062434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062434	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	127	COG5277	4501881,NP_001091
58	61218043	Disease	p.His75Leu	VAR_062434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062434	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	130	pfam00022	4501881,NP_001091
58	61218043	Disease	p.His75Arg	VAR_062435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062435	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	168	smart00268	4501881,NP_001091
58	61218043	Disease	p.His75Arg	VAR_062435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062435	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	194	cd00012	4501881,NP_001091
58	61218043	Disease	p.His75Arg	VAR_062435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062435	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	127	COG5277	4501881,NP_001091
58	61218043	Disease	p.His75Arg	VAR_062435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062435	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	130	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Ile77Leu	VAR_062436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062436	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	170	smart00268	4501881,NP_001091
58	61218043	Disease	p.Ile77Leu	VAR_062436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062436	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	196	cd00012	4501881,NP_001091
58	61218043	Disease	p.Ile77Leu	VAR_062436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062436	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	129	COG5277	4501881,NP_001091
58	61218043	Disease	p.Ile77Leu	VAR_062436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062436	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	132	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Thr79Ala	VAR_062437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062437	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	172	smart00268	4501881,NP_001091
58	61218043	Disease	p.Thr79Ala	VAR_062437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062437	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	198	cd00012	4501881,NP_001091
58	61218043	Disease	p.Thr79Ala	VAR_062437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062437	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	131	COG5277	4501881,NP_001091
58	61218043	Disease	p.Thr79Ala	VAR_062437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062437	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	134	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Glu85Lys	VAR_062438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062438	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	178	smart00268	4501881,NP_001091
58	61218043	Disease	p.Glu85Lys	VAR_062438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062438	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	213	cd00012	4501881,NP_001091
58	61218043	Disease	p.Glu85Lys	VAR_062438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062438	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	137	COG5277	4501881,NP_001091
58	61218043	Disease	p.Glu85Lys	VAR_062438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062438	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	140	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Leu96Pro	VAR_011681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011681	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	201	smart00268	4501881,NP_001091
58	61218043	Disease	p.Leu96Pro	VAR_011681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011681	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	224	cd00012	4501881,NP_001091
58	61218043	Disease	p.Leu96Pro	VAR_011681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011681	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	154	COG5277	4501881,NP_001091
58	61218043	Disease	p.Leu96Pro	VAR_011681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011681	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	152	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Ala116Thr	VAR_062439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062439	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	225	smart00268	4501881,NP_001091
58	61218043	Disease	p.Ala116Thr	VAR_062439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062439	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	258	cd00012	4501881,NP_001091
58	61218043	Disease	p.Ala116Thr	VAR_062439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062439	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	182	COG5277	4501881,NP_001091
58	61218043	Disease	p.Ala116Thr	VAR_062439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062439	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	218	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Asn117Ser	VAR_011682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011682	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	226	smart00268	4501881,NP_001091
58	61218043	Disease	p.Asn117Ser	VAR_011682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011682	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	259	cd00012	4501881,NP_001091
58	61218043	Disease	p.Asn117Ser	VAR_011682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011682	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	183	COG5277	4501881,NP_001091
58	61218043	Disease	p.Asn117Ser	VAR_011682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011682	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	219	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Asn117Thr	VAR_062440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062440	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	226	smart00268	4501881,NP_001091
58	61218043	Disease	p.Asn117Thr	VAR_062440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062440	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	259	cd00012	4501881,NP_001091
58	61218043	Disease	p.Asn117Thr	VAR_062440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062440	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	183	COG5277	4501881,NP_001091
58	61218043	Disease	p.Asn117Thr	VAR_062440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062440	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	219	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Arg118His	VAR_062441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062441	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	227	smart00268	4501881,NP_001091
58	61218043	Disease	p.Arg118His	VAR_062441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062441	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	260	cd00012	4501881,NP_001091
58	61218043	Disease	p.Arg118His	VAR_062441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062441	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	184	COG5277	4501881,NP_001091
58	61218043	Disease	p.Arg118His	VAR_062441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062441	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	220	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Met134Val	VAR_013470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013470	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	243	smart00268	4501881,NP_001091
58	61218043	Disease	p.Met134Val	VAR_013470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013470	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	276	cd00012	4501881,NP_001091
58	61218043	Disease	p.Met134Val	VAR_013470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013470	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	200	COG5277	4501881,NP_001091
58	61218043	Disease	p.Met134Val	VAR_013470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013470	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	236	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Val136Ala	VAR_062442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062442	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	245	smart00268	4501881,NP_001091
58	61218043	Disease	p.Val136Ala	VAR_062442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062442	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	278	cd00012	4501881,NP_001091
58	61218043	Disease	p.Val136Ala	VAR_062442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062442	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	202	COG5277	4501881,NP_001091
58	61218043	Disease	p.Val136Ala	VAR_062442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062442	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	238	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Ile138Met	VAR_011683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011683	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	247	smart00268	4501881,NP_001091
58	61218043	Disease	p.Ile138Met	VAR_011683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011683	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	280	cd00012	4501881,NP_001091
58	61218043	Disease	p.Ile138Met	VAR_011683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011683	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	204	COG5277	4501881,NP_001091
58	61218043	Disease	p.Ile138Met	VAR_011683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011683	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	240	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Ala140Pro	VAR_062443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062443	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	253	smart00268	4501881,NP_001091
58	61218043	Disease	p.Ala140Pro	VAR_062443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062443	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	282	cd00012	4501881,NP_001091
58	61218043	Disease	p.Ala140Pro	VAR_062443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062443	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	206	COG5277	4501881,NP_001091
58	61218043	Disease	p.Ala140Pro	VAR_062443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062443	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	242	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Leu142Pro	VAR_062444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062444	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	255	smart00268	4501881,NP_001091
58	61218043	Disease	p.Leu142Pro	VAR_062444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062444	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	284	cd00012	4501881,NP_001091
58	61218043	Disease	p.Leu142Pro	VAR_062444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062444	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	208	COG5277	4501881,NP_001091
58	61218043	Disease	p.Leu142Pro	VAR_062444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062444	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	244	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Gly148Asp	VAR_062445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062445	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	261	smart00268	4501881,NP_001091
58	61218043	Disease	p.Gly148Asp	VAR_062445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062445	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	290	cd00012	4501881,NP_001091
58	61218043	Disease	p.Gly148Asp	VAR_062445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062445	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	214	COG5277	4501881,NP_001091
58	61218043	Disease	p.Gly148Asp	VAR_062445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062445	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	250	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Thr150Asn	VAR_062446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062446	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	305	smart00268	4501881,NP_001091
58	61218043	Disease	p.Thr150Asn	VAR_062446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062446	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	334	cd00012	4501881,NP_001091
58	61218043	Disease	p.Thr150Asn	VAR_062446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062446	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	216	COG5277	4501881,NP_001091
58	61218043	Disease	p.Thr150Asn	VAR_062446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062446	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	252	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Asp156Asn	VAR_062447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062447	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	311	smart00268	4501881,NP_001091
58	61218043	Disease	p.Asp156Asn	VAR_062447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062447	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	340	cd00012	4501881,NP_001091
58	61218043	Disease	p.Asp156Asn	VAR_062447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062447	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	264	COG5277	4501881,NP_001091
58	61218043	Disease	p.Asp156Asn	VAR_062447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062447	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	276	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Val165Leu	VAR_011684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011684	- Congenital myopathy with excess of thin myofilaments (CM) [MIM:102610]	SWISS	320	smart00268	4501881,NP_001091
58	61218043	Disease	p.Val165Leu	VAR_011684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011684	- Congenital myopathy with excess of thin myofilaments (CM) [MIM:102610]	SWISS	349	cd00012	4501881,NP_001091
58	61218043	Disease	p.Val165Leu	VAR_011684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011684	- Congenital myopathy with excess of thin myofilaments (CM) [MIM:102610]	SWISS	273	COG5277	4501881,NP_001091
58	61218043	Disease	p.Val165Leu	VAR_011684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011684	- Congenital myopathy with excess of thin myofilaments (CM) [MIM:102610]	SWISS	285	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Val165Met	VAR_062448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062448	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	320	smart00268	4501881,NP_001091
58	61218043	Disease	p.Val165Met	VAR_062448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062448	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	349	cd00012	4501881,NP_001091
58	61218043	Disease	p.Val165Met	VAR_062448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062448	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	273	COG5277	4501881,NP_001091
58	61218043	Disease	p.Val165Met	VAR_062448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062448	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	285	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Ala172Gly	VAR_062449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062449	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	327	smart00268	4501881,NP_001091
58	61218043	Disease	p.Ala172Gly	VAR_062449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062449	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	356	cd00012	4501881,NP_001091
58	61218043	Disease	p.Ala172Gly	VAR_062449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062449	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	280	COG5277	4501881,NP_001091
58	61218043	Disease	p.Ala172Gly	VAR_062449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062449	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	292	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Asp181Gly	VAR_062450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062450	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	659	smart00268	4501881,NP_001091
58	61218043	Disease	p.Asp181Gly	VAR_062450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062450	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	365	cd00012	4501881,NP_001091
58	61218043	Disease	p.Asp181Gly	VAR_062450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062450	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	289	COG5277	4501881,NP_001091
58	61218043	Disease	p.Asp181Gly	VAR_062450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062450	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	301	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Asp181His	VAR_062451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062451	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	659	smart00268	4501881,NP_001091
58	61218043	Disease	p.Asp181His	VAR_062451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062451	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	365	cd00012	4501881,NP_001091
58	61218043	Disease	p.Asp181His	VAR_062451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062451	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	289	COG5277	4501881,NP_001091
58	61218043	Disease	p.Asp181His	VAR_062451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062451	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	301	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Asp181Asn	VAR_062452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062452	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	659	smart00268	4501881,NP_001091
58	61218043	Disease	p.Asp181Asn	VAR_062452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062452	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	365	cd00012	4501881,NP_001091
58	61218043	Disease	p.Asp181Asn	VAR_062452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062452	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	289	COG5277	4501881,NP_001091
58	61218043	Disease	p.Asp181Asn	VAR_062452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062452	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	301	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Gly184Asp	VAR_015580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015580	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	662	smart00268	4501881,NP_001091
58	61218043	Disease	p.Gly184Asp	VAR_015580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015580	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	368	cd00012	4501881,NP_001091
58	61218043	Disease	p.Gly184Asp	VAR_015580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015580	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	292	COG5277	4501881,NP_001091
58	61218043	Disease	p.Gly184Asp	VAR_015580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015580	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	304	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Arg185Cys	VAR_015582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015582	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	663	smart00268	4501881,NP_001091
58	61218043	Disease	p.Arg185Cys	VAR_015582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015582	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	369	cd00012	4501881,NP_001091
58	61218043	Disease	p.Arg185Cys	VAR_015582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015582	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	293	COG5277	4501881,NP_001091
58	61218043	Disease	p.Arg185Cys	VAR_015582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015582	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	305	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Arg185Asp	VAR_062453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062453	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	663	smart00268	4501881,NP_001091
58	61218043	Disease	p.Arg185Asp	VAR_062453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062453	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	369	cd00012	4501881,NP_001091
58	61218043	Disease	p.Arg185Asp	VAR_062453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062453	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	293	COG5277	4501881,NP_001091
58	61218043	Disease	p.Arg185Asp	VAR_062453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062453	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	305	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Arg185Gly	VAR_015581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015581	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	663	smart00268	4501881,NP_001091
58	61218043	Disease	p.Arg185Gly	VAR_015581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015581	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	369	cd00012	4501881,NP_001091
58	61218043	Disease	p.Arg185Gly	VAR_015581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015581	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	293	COG5277	4501881,NP_001091
58	61218043	Disease	p.Arg185Gly	VAR_015581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015581	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	305	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Arg185Ser	VAR_062454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062454	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	663	smart00268	4501881,NP_001091
58	61218043	Disease	p.Arg185Ser	VAR_062454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062454	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	369	cd00012	4501881,NP_001091
58	61218043	Disease	p.Arg185Ser	VAR_062454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062454	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	293	COG5277	4501881,NP_001091
58	61218043	Disease	p.Arg185Ser	VAR_062454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062454	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	305	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Arg198Leu	VAR_062455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062455	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	720	smart00268	4501881,NP_001091
58	61218043	Disease	p.Arg198Leu	VAR_062455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062455	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	382	cd00012	4501881,NP_001091
58	61218043	Disease	p.Arg198Leu	VAR_062455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062455	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	317	COG5277	4501881,NP_001091
58	61218043	Disease	p.Arg198Leu	VAR_062455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062455	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	319	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Gly199Ser	VAR_062456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062456	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	721	smart00268	4501881,NP_001091
58	61218043	Disease	p.Gly199Ser	VAR_062456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062456	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	383	cd00012	4501881,NP_001091
58	61218043	Disease	p.Gly199Ser	VAR_062456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062456	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	318	COG5277	4501881,NP_001091
58	61218043	Disease	p.Gly199Ser	VAR_062456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062456	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	320	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Leu223Pro	VAR_032917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032917	- Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]	SWISS	752	smart00268	4501881,NP_001091
58	61218043	Disease	p.Leu223Pro	VAR_032917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032917	- Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]	SWISS	485	cd00012	4501881,NP_001091
58	61218043	Disease	p.Leu223Pro	VAR_032917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032917	- Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]	SWISS	364	COG5277	4501881,NP_001091
58	61218043	Disease	p.Leu223Pro	VAR_032917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032917	- Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]	SWISS	392	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Glu226Gly	VAR_062457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062457	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	755	smart00268	4501881,NP_001091
58	61218043	Disease	p.Glu226Gly	VAR_062457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062457	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	488	cd00012	4501881,NP_001091
58	61218043	Disease	p.Glu226Gly	VAR_062457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062457	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	367	COG5277	4501881,NP_001091
58	61218043	Disease	p.Glu226Gly	VAR_062457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062457	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	397	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Glu226Gln	VAR_062458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062458	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	755	smart00268	4501881,NP_001091
58	61218043	Disease	p.Glu226Gln	VAR_062458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062458	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	488	cd00012	4501881,NP_001091
58	61218043	Disease	p.Glu226Gln	VAR_062458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062458	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	367	COG5277	4501881,NP_001091
58	61218043	Disease	p.Glu226Gln	VAR_062458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062458	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	397	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Asn227Val	VAR_062459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062459	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	756	smart00268	4501881,NP_001091
58	61218043	Disease	p.Asn227Val	VAR_062459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062459	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	489	cd00012	4501881,NP_001091
58	61218043	Disease	p.Asn227Val	VAR_062459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062459	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	368	COG5277	4501881,NP_001091
58	61218043	Disease	p.Asn227Val	VAR_062459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062459	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	398	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Met229Ile	VAR_062460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062460	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	758	smart00268	4501881,NP_001091
58	61218043	Disease	p.Met229Ile	VAR_062460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062460	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	491	cd00012	4501881,NP_001091
58	61218043	Disease	p.Met229Ile	VAR_062460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062460	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	370	COG5277	4501881,NP_001091
58	61218043	Disease	p.Met229Ile	VAR_062460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062460	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	417	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Met229Thr	VAR_062461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062461	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	758	smart00268	4501881,NP_001091
58	61218043	Disease	p.Met229Thr	VAR_062461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062461	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	491	cd00012	4501881,NP_001091
58	61218043	Disease	p.Met229Thr	VAR_062461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062461	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	370	COG5277	4501881,NP_001091
58	61218043	Disease	p.Met229Thr	VAR_062461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062461	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	417	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Met229Val	VAR_062462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062462	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	758	smart00268	4501881,NP_001091
58	61218043	Disease	p.Met229Val	VAR_062462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062462	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	491	cd00012	4501881,NP_001091
58	61218043	Disease	p.Met229Val	VAR_062462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062462	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	370	COG5277	4501881,NP_001091
58	61218043	Disease	p.Met229Val	VAR_062462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062462	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	417	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Glu243Lys	VAR_062463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062463	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	826	smart00268	4501881,NP_001091
58	61218043	Disease	p.Glu243Lys	VAR_062463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062463	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	588	cd00012	4501881,NP_001091
58	61218043	Disease	p.Glu243Lys	VAR_062463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062463	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	404	COG5277	4501881,NP_001091
58	61218043	Disease	p.Glu243Lys	VAR_062463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062463	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	452	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Gln248Lys	VAR_062464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062464	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	831	smart00268	4501881,NP_001091
58	61218043	Disease	p.Gln248Lys	VAR_062464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062464	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	598	cd00012	4501881,NP_001091
58	61218043	Disease	p.Gln248Lys	VAR_062464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062464	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	409	COG5277	4501881,NP_001091
58	61218043	Disease	p.Gln248Lys	VAR_062464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062464	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	505	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Gln248Arg	VAR_062465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062465	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	831	smart00268	4501881,NP_001091
58	61218043	Disease	p.Gln248Arg	VAR_062465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062465	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	598	cd00012	4501881,NP_001091
58	61218043	Disease	p.Gln248Arg	VAR_062465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062465	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	409	COG5277	4501881,NP_001091
58	61218043	Disease	p.Gln248Arg	VAR_062465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062465	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	505	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Gly253Asp	VAR_062466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062466	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	836	smart00268	4501881,NP_001091
58	61218043	Disease	p.Gly253Asp	VAR_062466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062466	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	603	cd00012	4501881,NP_001091
58	61218043	Disease	p.Gly253Asp	VAR_062466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062466	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	414	COG5277	4501881,NP_001091
58	61218043	Disease	p.Gly253Asp	VAR_062466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062466	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	512	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Arg258His	VAR_015583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015583	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	863	smart00268	4501881,NP_001091
58	61218043	Disease	p.Arg258His	VAR_015583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015583	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	650	cd00012	4501881,NP_001091
58	61218043	Disease	p.Arg258His	VAR_015583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015583	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	432	COG5277	4501881,NP_001091
58	61218043	Disease	p.Arg258His	VAR_015583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015583	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	517	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Arg258Leu	VAR_062467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062467	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	863	smart00268	4501881,NP_001091
58	61218043	Disease	p.Arg258Leu	VAR_062467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062467	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	650	cd00012	4501881,NP_001091
58	61218043	Disease	p.Arg258Leu	VAR_062467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062467	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	432	COG5277	4501881,NP_001091
58	61218043	Disease	p.Arg258Leu	VAR_062467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062467	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	517	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Glu261Val	VAR_011685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011685	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	866	smart00268	4501881,NP_001091
58	61218043	Disease	p.Glu261Val	VAR_011685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011685	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	653	cd00012	4501881,NP_001091
58	61218043	Disease	p.Glu261Val	VAR_011685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011685	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	435	COG5277	4501881,NP_001091
58	61218043	Disease	p.Glu261Val	VAR_011685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011685	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	520	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Gln265Leu	VAR_015584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015584	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	892	smart00268	4501881,NP_001091
58	61218043	Disease	p.Gln265Leu	VAR_015584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015584	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	657	cd00012	4501881,NP_001091
58	61218043	Disease	p.Gln265Leu	VAR_015584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015584	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	439	COG5277	4501881,NP_001091
58	61218043	Disease	p.Gln265Leu	VAR_015584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015584	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	529	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Gly270Cys	VAR_011686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011686	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	897	smart00268	4501881,NP_001091
58	61218043	Disease	p.Gly270Cys	VAR_011686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011686	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	662	cd00012	4501881,NP_001091
58	61218043	Disease	p.Gly270Cys	VAR_011686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011686	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	492	COG5277	4501881,NP_001091
58	61218043	Disease	p.Gly270Cys	VAR_011686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011686	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	534	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Gly270Asp	VAR_062468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062468	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	897	smart00268	4501881,NP_001091
58	61218043	Disease	p.Gly270Asp	VAR_062468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062468	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	662	cd00012	4501881,NP_001091
58	61218043	Disease	p.Gly270Asp	VAR_062468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062468	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	492	COG5277	4501881,NP_001091
58	61218043	Disease	p.Gly270Asp	VAR_062468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062468	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	534	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Gly270Arg	VAR_062469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062469	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	897	smart00268	4501881,NP_001091
58	61218043	Disease	p.Gly270Arg	VAR_062469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062469	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	662	cd00012	4501881,NP_001091
58	61218043	Disease	p.Gly270Arg	VAR_062469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062469	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	492	COG5277	4501881,NP_001091
58	61218043	Disease	p.Gly270Arg	VAR_062469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062469	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	534	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Met271Arg	VAR_013471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013471	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	898	smart00268	4501881,NP_001091
58	61218043	Disease	p.Met271Arg	VAR_013471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013471	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	711	cd00012	4501881,NP_001091
58	61218043	Disease	p.Met271Arg	VAR_013471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013471	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	493	COG5277	4501881,NP_001091
58	61218043	Disease	p.Met271Arg	VAR_013471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013471	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	535	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Ala274Glu	VAR_062470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062470	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	901	smart00268	4501881,NP_001091
58	61218043	Disease	p.Ala274Glu	VAR_062470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062470	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	714	cd00012	4501881,NP_001091
58	61218043	Disease	p.Ala274Glu	VAR_062470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062470	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	496	COG5277	4501881,NP_001091
58	61218043	Disease	p.Ala274Glu	VAR_062470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062470	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	538	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Tyr281His	VAR_062471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062471	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	918	smart00268	4501881,NP_001091
58	61218043	Disease	p.Tyr281His	VAR_062471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062471	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	721	cd00012	4501881,NP_001091
58	61218043	Disease	p.Tyr281His	VAR_062471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062471	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	729	COG5277	4501881,NP_001091
58	61218043	Disease	p.Tyr281His	VAR_062471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062471	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	577	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Asn282Lys	VAR_015585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015585	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	919	smart00268	4501881,NP_001091
58	61218043	Disease	p.Asn282Lys	VAR_015585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015585	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	722	cd00012	4501881,NP_001091
58	61218043	Disease	p.Asn282Lys	VAR_015585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015585	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	730	COG5277	4501881,NP_001091
58	61218043	Disease	p.Asn282Lys	VAR_015585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015585	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	578	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Met285Lys	VAR_062472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062472	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	922	smart00268	4501881,NP_001091
58	61218043	Disease	p.Met285Lys	VAR_062472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062472	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	725	cd00012	4501881,NP_001091
58	61218043	Disease	p.Met285Lys	VAR_062472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062472	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	733	COG5277	4501881,NP_001091
58	61218043	Disease	p.Met285Lys	VAR_062472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062472	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	581	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Asp288Gly	VAR_015586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015586	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	925	smart00268	4501881,NP_001091
58	61218043	Disease	p.Asp288Gly	VAR_015586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015586	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	728	cd00012	4501881,NP_001091
58	61218043	Disease	p.Asp288Gly	VAR_015586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015586	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	736	COG5277	4501881,NP_001091
58	61218043	Disease	p.Asp288Gly	VAR_015586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015586	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	584	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Asp294Val	VAR_032918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032918	- Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]	SWISS	938	smart00268	4501881,NP_001091
58	61218043	Disease	p.Asp294Val	VAR_032918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032918	- Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]	SWISS	736	cd00012	4501881,NP_001091
58	61218043	Disease	p.Asp294Val	VAR_032918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032918	- Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]	SWISS	752	COG5277	4501881,NP_001091
58	61218043	Disease	p.Asp294Val	VAR_032918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032918	- Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]	SWISS	592	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Pro334Ser	VAR_032919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032919	- Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]	SWISS	1056	smart00268	4501881,NP_001091
58	61218043	Disease	p.Pro334Ser	VAR_032919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032919	- Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]	SWISS	846	cd00012	4501881,NP_001091
58	61218043	Disease	p.Pro334Ser	VAR_032919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032919	- Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]	SWISS	859	COG5277	4501881,NP_001091
58	61218043	Disease	p.Pro334Ser	VAR_032919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032919	- Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]	SWISS	653	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Lys338Glu	VAR_062474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062474	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	1060	smart00268	4501881,NP_001091
58	61218043	Disease	p.Lys338Glu	VAR_062474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062474	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	850	cd00012	4501881,NP_001091
58	61218043	Disease	p.Lys338Glu	VAR_062474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062474	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	866	COG5277	4501881,NP_001091
58	61218043	Disease	p.Lys338Glu	VAR_062474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062474	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	660	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Lys338Ile	VAR_062475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062475	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	1060	smart00268	4501881,NP_001091
58	61218043	Disease	p.Lys338Ile	VAR_062475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062475	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	850	cd00012	4501881,NP_001091
58	61218043	Disease	p.Lys338Ile	VAR_062475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062475	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	866	COG5277	4501881,NP_001091
58	61218043	Disease	p.Lys338Ile	VAR_062475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062475	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	660	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Ser350Leu	VAR_062476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062476	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	1075	smart00268	4501881,NP_001091
58	61218043	Disease	p.Ser350Leu	VAR_062476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062476	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	862	cd00012	4501881,NP_001091
58	61218043	Disease	p.Ser350Leu	VAR_062476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062476	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	878	COG5277	4501881,NP_001091
58	61218043	Disease	p.Ser350Leu	VAR_062476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062476	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	672	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Ile359Leu	VAR_015587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015587	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	1085	smart00268	4501881,NP_001091
58	61218043	Disease	p.Ile359Leu	VAR_015587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015587	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	874	cd00012	4501881,NP_001091
58	61218043	Disease	p.Ile359Leu	VAR_015587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015587	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	890	COG5277	4501881,NP_001091
58	61218043	Disease	p.Ile359Leu	VAR_015587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015587	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	683	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Val372Phe	VAR_011687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011687	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	1108	smart00268	4501881,NP_001091
58	61218043	Disease	p.Val372Phe	VAR_011687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011687	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	887	cd00012	4501881,NP_001091
58	61218043	Disease	p.Val372Phe	VAR_011687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011687	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	903	COG5277	4501881,NP_001091
58	61218043	Disease	p.Val372Phe	VAR_011687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011687	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	699	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Arg374Ser	VAR_062477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062477	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	1110	smart00268	4501881,NP_001091
58	61218043	Disease	p.Arg374Ser	VAR_062477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062477	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	889	cd00012	4501881,NP_001091
58	61218043	Disease	p.Arg374Ser	VAR_062477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062477	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	905	COG5277	4501881,NP_001091
58	61218043	Disease	p.Arg374Ser	VAR_062477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062477	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	701	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Lys375Glu	VAR_062478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062478	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	1111	smart00268	4501881,NP_001091
58	61218043	Disease	p.Lys375Glu	VAR_062478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062478	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	906	COG5277	4501881,NP_001091
58	61218043	Disease	p.Lys375Glu	VAR_062478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062478	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	702	pfam00022	4501881,NP_001091
58	61218043	Disease	p.Lys375Gln	VAR_062479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062479	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	1111	smart00268	4501881,NP_001091
58	61218043	Disease	p.Lys375Gln	VAR_062479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062479	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	906	COG5277	4501881,NP_001091
58	61218043	Disease	p.Lys375Gln	VAR_062479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062479	- Nemaline myopathy type 3 (NEM3) [MIM:161800]	SWISS	702	pfam00022	4501881,NP_001091
59	51316972	Disease	p.Arg39His	VAR_062577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062577	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	44	COG5277	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg39His	VAR_062577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062577	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	40	smart00268	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg39His	VAR_062577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062577	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	36	cd00012	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg39His	VAR_062577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062577	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	50	pfam00022	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Asn117Thr	VAR_045915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045915	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	183	COG5277	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Asn117Thr	VAR_045915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045915	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	226	smart00268	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Asn117Thr	VAR_045915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045915	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	259	cd00012	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Asn117Thr	VAR_045915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045915	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	219	pfam00022	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg118Gln	VAR_045916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045916	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	184	COG5277	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg118Gln	VAR_045916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045916	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	227	smart00268	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg118Gln	VAR_045916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045916	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	260	cd00012	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg118Gln	VAR_045916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045916	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	220	pfam00022	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Tyr135His	VAR_045917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045917	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	201	COG5277	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Tyr135His	VAR_045917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045917	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	244	smart00268	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Tyr135His	VAR_045917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045917	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	277	cd00012	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Tyr135His	VAR_045917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045917	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	237	pfam00022	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Tyr145Cys	VAR_062578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062578	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	211	COG5277	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Tyr145Cys	VAR_062578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062578	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	258	smart00268	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Tyr145Cys	VAR_062578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062578	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	287	cd00012	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Tyr145Cys	VAR_062578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062578	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	247	pfam00022	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg149Cys	VAR_045918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045918	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	215	COG5277	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg149Cys	VAR_045918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045918	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	304	smart00268	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg149Cys	VAR_045918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045918	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	291	cd00012	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg149Cys	VAR_045918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045918	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	251	pfam00022	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Val154Ala	VAR_045919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045919	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	262	COG5277	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Val154Ala	VAR_045919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045919	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	309	smart00268	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Val154Ala	VAR_045919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045919	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	338	cd00012	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Val154Ala	VAR_045919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045919	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	274	pfam00022	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg185Gln	VAR_062579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062579	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	293	COG5277	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg185Gln	VAR_062579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062579	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	663	smart00268	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg185Gln	VAR_062579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062579	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	369	cd00012	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg185Gln	VAR_062579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062579	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	305	pfam00022	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg212Gln	VAR_062580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062580	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	343	COG5277	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg212Gln	VAR_062580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062580	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	734	smart00268	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg212Gln	VAR_062580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062580	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	471	cd00012	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg212Gln	VAR_062580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062580	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	381	pfam00022	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258Cys	VAR_045920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045920	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	432	COG5277	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258Cys	VAR_045920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045920	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	863	smart00268	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258Cys	VAR_045920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045920	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	650	cd00012	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258Cys	VAR_045920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045920	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	517	pfam00022	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258His	VAR_045921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045921	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	432	COG5277	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258His	VAR_045921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045921	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	863	smart00268	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258His	VAR_045921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045921	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	650	cd00012	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg258His	VAR_045921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045921	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	517	pfam00022	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg292Gly	VAR_045922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045922	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	750	COG5277	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg292Gly	VAR_045922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045922	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	936	smart00268	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg292Gly	VAR_045922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045922	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	734	cd00012	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Arg292Gly	VAR_045922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045922	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	590	pfam00022	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Thr326Asn	VAR_062581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062581	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	851	COG5277	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Thr326Asn	VAR_062581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062581	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	1048	smart00268	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Thr326Asn	VAR_062581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062581	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	838	cd00012	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Thr326Asn	VAR_062581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062581	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	640	pfam00022	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Thr353Asn	VAR_045923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045923	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	884	COG5277	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Thr353Asn	VAR_045923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045923	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	1078	smart00268	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Thr353Asn	VAR_045923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045923	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	865	cd00012	213688375,NP_001135417|4501883,NP_001604
59	51316972	Disease	p.Thr353Asn	VAR_045923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045923	- Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]	SWISS	676	pfam00022	213688375,NP_001135417|4501883,NP_001604
60	46397333	Disease	p.Arg183Trp	VAR_030026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030026	- Dystonia juvenile-onset (DYTJ) [MIM:607371]	SWISS	293	COG5277	4501885,NP_001092
60	46397333	Disease	p.Arg183Trp	VAR_030026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030026	- Dystonia juvenile-onset (DYTJ) [MIM:607371]	SWISS	305	pfam00022	4501885,NP_001092
60	46397333	Disease	p.Arg183Trp	VAR_030026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030026	- Dystonia juvenile-onset (DYTJ) [MIM:607371]	SWISS	369	cd00012	4501885,NP_001092
60	46397333	Disease	p.Arg183Trp	VAR_030026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030026	- Dystonia juvenile-onset (DYTJ) [MIM:607371]	SWISS	663	smart00268	4501885,NP_001092
70	54036697	Disease	p.His90Tyr	VAR_045924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045924	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	142	COG5277	4885049,NP_005150
70	54036697	Disease	p.His90Tyr	VAR_045924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045924	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	183	smart00268	4885049,NP_005150
70	54036697	Disease	p.His90Tyr	VAR_045924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045924	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	218	cd00012	4885049,NP_005150
70	54036697	Disease	p.His90Tyr	VAR_045924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045924	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	145	pfam00022	4885049,NP_005150
70	54036697	Disease	p.Arg97Cys	VAR_045925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045925	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	155	COG5277	4885049,NP_005150
70	54036697	Disease	p.Arg97Cys	VAR_045925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045925	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	202	smart00268	4885049,NP_005150
70	54036697	Disease	p.Arg97Cys	VAR_045925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045925	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	225	cd00012	4885049,NP_005150
70	54036697	Disease	p.Arg97Cys	VAR_045925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045925	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	153	pfam00022	4885049,NP_005150
70	54036697	Disease	p.Glu101Lys	VAR_012857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012857	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	159	COG5277	4885049,NP_005150
70	54036697	Disease	p.Glu101Lys	VAR_012857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012857	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	209	smart00268	4885049,NP_005150
70	54036697	Disease	p.Glu101Lys	VAR_012857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012857	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	240	cd00012	4885049,NP_005150
70	54036697	Disease	p.Glu101Lys	VAR_012857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012857	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	203	pfam00022	4885049,NP_005150
70	54036697	Disease	p.Met125Val	VAR_046502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046502	- Atrial septal defect type 5 (ASD5) [MIM:612794]	SWISS	191	COG5277	4885049,NP_005150
70	54036697	Disease	p.Met125Val	VAR_046502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046502	- Atrial septal defect type 5 (ASD5) [MIM:612794]	SWISS	234	smart00268	4885049,NP_005150
70	54036697	Disease	p.Met125Val	VAR_046502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046502	- Atrial septal defect type 5 (ASD5) [MIM:612794]	SWISS	267	cd00012	4885049,NP_005150
70	54036697	Disease	p.Met125Val	VAR_046502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046502	- Atrial septal defect type 5 (ASD5) [MIM:612794]	SWISS	227	pfam00022	4885049,NP_005150
70	54036697	Disease	p.Pro166Ala	VAR_012858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012858	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	274	COG5277	4885049,NP_005150
70	54036697	Disease	p.Pro166Ala	VAR_012858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012858	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	321	smart00268	4885049,NP_005150
70	54036697	Disease	p.Pro166Ala	VAR_012858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012858	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	350	cd00012	4885049,NP_005150
70	54036697	Disease	p.Pro166Ala	VAR_012858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012858	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	286	pfam00022	4885049,NP_005150
70	54036697	Disease	p.Tyr168Cys	VAR_046503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046503	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	276	COG5277	4885049,NP_005150
70	54036697	Disease	p.Tyr168Cys	VAR_046503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046503	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	323	smart00268	4885049,NP_005150
70	54036697	Disease	p.Tyr168Cys	VAR_046503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046503	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	352	cd00012	4885049,NP_005150
70	54036697	Disease	p.Tyr168Cys	VAR_046503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046503	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	288	pfam00022	4885049,NP_005150
70	54036697	Disease	p.Ala297Ser	VAR_012859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012859	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	755	COG5277	4885049,NP_005150
70	54036697	Disease	p.Ala297Ser	VAR_012859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012859	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	941	smart00268	4885049,NP_005150
70	54036697	Disease	p.Ala297Ser	VAR_012859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012859	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	739	cd00012	4885049,NP_005150
70	54036697	Disease	p.Ala297Ser	VAR_012859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012859	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	595	pfam00022	4885049,NP_005150
70	54036697	Disease	p.Met307Leu	VAR_046504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046504	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	765	COG5277	4885049,NP_005150
70	54036697	Disease	p.Met307Leu	VAR_046504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046504	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	951	smart00268	4885049,NP_005150
70	54036697	Disease	p.Met307Leu	VAR_046504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046504	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	749	cd00012	4885049,NP_005150
70	54036697	Disease	p.Met307Leu	VAR_046504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046504	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	605	pfam00022	4885049,NP_005150
70	54036697	Disease	p.Arg314His	VAR_012860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012860	- Cardiomyopathy dilated type 1R (CMD1R) [MIM:613424]	SWISS	772	COG5277	4885049,NP_005150
70	54036697	Disease	p.Arg314His	VAR_012860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012860	- Cardiomyopathy dilated type 1R (CMD1R) [MIM:613424]	SWISS	958	smart00268	4885049,NP_005150
70	54036697	Disease	p.Arg314His	VAR_012860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012860	- Cardiomyopathy dilated type 1R (CMD1R) [MIM:613424]	SWISS	756	cd00012	4885049,NP_005150
70	54036697	Disease	p.Arg314His	VAR_012860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012860	- Cardiomyopathy dilated type 1R (CMD1R) [MIM:613424]	SWISS	612	pfam00022	4885049,NP_005150
70	54036697	Disease	p.Ala333Pro	VAR_012861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012861	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	858	COG5277	4885049,NP_005150
70	54036697	Disease	p.Ala333Pro	VAR_012861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012861	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	1055	smart00268	4885049,NP_005150
70	54036697	Disease	p.Ala333Pro	VAR_012861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012861	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	845	cd00012	4885049,NP_005150
70	54036697	Disease	p.Ala333Pro	VAR_012861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012861	- Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]	SWISS	652	pfam00022	4885049,NP_005150
70	54036697	Disease	p.Glu363Gly	VAR_012862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012862	- Cardiomyopathy dilated type 1R (CMD1R) [MIM:613424]	SWISS	894	COG5277	4885049,NP_005150
70	54036697	Disease	p.Glu363Gly	VAR_012862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012862	- Cardiomyopathy dilated type 1R (CMD1R) [MIM:613424]	SWISS	1089	smart00268	4885049,NP_005150
70	54036697	Disease	p.Glu363Gly	VAR_012862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012862	- Cardiomyopathy dilated type 1R (CMD1R) [MIM:613424]	SWISS	878	cd00012	4885049,NP_005150
70	54036697	Disease	p.Glu363Gly	VAR_012862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012862	- Cardiomyopathy dilated type 1R (CMD1R) [MIM:613424]	SWISS	687	pfam00022	4885049,NP_005150
71	54036678	Disease	p.Thr89Ile	VAR_032434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032434	rs28999111 Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	143	COG5277	4501887,NP_001605
71	54036678	Disease	p.Thr89Ile	VAR_032434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032434	rs28999111 Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	146	pfam00022	4501887,NP_001605
71	54036678	Disease	p.Thr89Ile	VAR_032434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032434	rs28999111 Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	219	cd00012	4501887,NP_001605
71	54036678	Disease	p.Thr89Ile	VAR_032434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032434	rs28999111 Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	184	smart00268	4501887,NP_001605
71	54036678	Disease	p.Lys118Met	VAR_032435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032435	- Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	186	COG5277	4501887,NP_001605
71	54036678	Disease	p.Lys118Met	VAR_032435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032435	- Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	222	pfam00022	4501887,NP_001605
71	54036678	Disease	p.Lys118Met	VAR_032435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032435	- Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	262	cd00012	4501887,NP_001605
71	54036678	Disease	p.Lys118Met	VAR_032435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032435	- Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	229	smart00268	4501887,NP_001605
71	54036678	Disease	p.Pro264Leu	VAR_032436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032436	- Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	440	COG5277	4501887,NP_001605
71	54036678	Disease	p.Pro264Leu	VAR_032436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032436	- Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	530	pfam00022	4501887,NP_001605
71	54036678	Disease	p.Pro264Leu	VAR_032436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032436	- Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	658	cd00012	4501887,NP_001605
71	54036678	Disease	p.Pro264Leu	VAR_032436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032436	- Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	893	smart00268	4501887,NP_001605
71	54036678	Disease	p.Thr278Ile	VAR_032437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032437	rs28999112 Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	728	COG5277	4501887,NP_001605
71	54036678	Disease	p.Thr278Ile	VAR_032437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032437	rs28999112 Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	576	pfam00022	4501887,NP_001605
71	54036678	Disease	p.Thr278Ile	VAR_032437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032437	rs28999112 Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	720	cd00012	4501887,NP_001605
71	54036678	Disease	p.Thr278Ile	VAR_032437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032437	rs28999112 Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	917	smart00268	4501887,NP_001605
71	54036678	Disease	p.Pro332Ala	VAR_032438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032438	- Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	859	COG5277	4501887,NP_001605
71	54036678	Disease	p.Pro332Ala	VAR_032438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032438	- Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	653	pfam00022	4501887,NP_001605
71	54036678	Disease	p.Pro332Ala	VAR_032438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032438	- Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	846	cd00012	4501887,NP_001605
71	54036678	Disease	p.Pro332Ala	VAR_032438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032438	- Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	1056	smart00268	4501887,NP_001605
71	54036678	Disease	p.Val370Ala	VAR_032439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032439	- Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	903	COG5277	4501887,NP_001605
71	54036678	Disease	p.Val370Ala	VAR_032439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032439	- Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	699	pfam00022	4501887,NP_001605
71	54036678	Disease	p.Val370Ala	VAR_032439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032439	- Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	887	cd00012	4501887,NP_001605
71	54036678	Disease	p.Val370Ala	VAR_032439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032439	- Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]	SWISS	1108	smart00268	4501887,NP_001605
88	543742	Disease	p.Gln9Arg	VAR_054628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054628	- Cardiomyopathy dilated type 1AA (CMD1AA) [MIM:612158]	SWISS	No Domain	N/A	4501893,NP_001094
81	13123943	Disease	p.Lys255Glu	VAR_010378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010378	rs28939374 Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]	SWISS	228	smart00033	12025678,NP_004915
81	13123943	Disease	p.Lys255Glu	VAR_010378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010378	rs28939374 Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]	SWISS	233	pfam00307	12025678,NP_004915
81	13123943	Disease	p.Lys255Glu	VAR_010378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010378	rs28939374 Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]	SWISS	126	cd00014	12025678,NP_004915
81	13123943	Disease	p.Lys255Glu	VAR_010378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010378	rs28939374 Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]	SWISS	249	COG5069	12025678,NP_004915
81	13123943	Disease	p.Thr259Ile	VAR_010379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010379	rs28939375 Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]	SWISS	232	smart00033	12025678,NP_004915
81	13123943	Disease	p.Thr259Ile	VAR_010379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010379	rs28939375 Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]	SWISS	244	pfam00307	12025678,NP_004915
81	13123943	Disease	p.Thr259Ile	VAR_010379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010379	rs28939375 Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]	SWISS	130	cd00014	12025678,NP_004915
81	13123943	Disease	p.Thr259Ile	VAR_010379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010379	rs28939375 Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]	SWISS	253	COG5069	12025678,NP_004915
81	13123943	Disease	p.Ser262Pro	VAR_010380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010380	rs28939376 Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]	SWISS	235	smart00033	12025678,NP_004915
81	13123943	Disease	p.Ser262Pro	VAR_010380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010380	rs28939376 Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]	SWISS	247	pfam00307	12025678,NP_004915
81	13123943	Disease	p.Ser262Pro	VAR_010380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010380	rs28939376 Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]	SWISS	133	cd00014	12025678,NP_004915
81	13123943	Disease	p.Ser262Pro	VAR_010380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010380	rs28939376 Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]	SWISS	257	COG5069	12025678,NP_004915
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	14	cd06638	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05052	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd07851	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd05092	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	17	cd06658	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd06614	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05057	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	9	cd07865	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	14	cd06648	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	20	cd06639	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd05046	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd06646	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd06645	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd07866	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05111	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	12	cd06636	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	3	cd07864	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	2	cd06637	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	30	pfam08515	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	27	smart00467	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	118	cd05104	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	7	cd06624	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	7	cd05053	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	7	cd05099	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	16	cd06659	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg202Ile	VAR_058419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058419	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	16	cd06635	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	18	cd06638	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd06616	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05032	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	3	cd06613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	3	cd06612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6_G	cd05052	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	15	cd07851	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	2	cd08229	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	2	cd08224	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd05065	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd05066	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd05081	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd05079	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd05059	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05039	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05092	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	21	cd06658	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	10	cd06614	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	10	cd05057	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd07844	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05062	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd05051	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd05050	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd06641	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05073	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05067	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05070	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05072	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd06642	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd06640	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd05033	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd05038	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05061	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05071	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd05114	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd05113	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd05112	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd07845	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd05049	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	12	cd07865	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	18	cd06648	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	24	cd06639	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	8	cd05046	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	9	cd06646	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	9	cd06645	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	9	cd07866	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	10	cd05111	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05063	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05093	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05056	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05068	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05091	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05090	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05048	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05082	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05064	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05036	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	16	cd06636	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	7	cd07864	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd06637	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	31	smart00467	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	122	cd05104	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	11	cd06624	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	11	cd05053	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	11	cd05099	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	20	cd06659	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg206His	VAR_028444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028444	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	20	cd06635	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	19	cd06638	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd06616	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	7	cd05032	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd06613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	4	cd06612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	2	cd07847	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	2	cd07837	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	2	cd06605	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	2	cd06622	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	2	cd06615	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	7	cd05034	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	7	cd05083	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	2	cd06917	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	2	cd06609	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	2	cd05612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	2	cd06610	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	2	cd07846	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05080	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	2	cd06617	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	8	cd05088	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	2	cd05581	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	7	cd05052	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	16	cd07851	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	3	cd08229	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	3	cd08224	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05065	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05066	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05081	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05079	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05059	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	7	cd05039	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05092	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	22	cd06658	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	11	cd06614	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	11	cd05057	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd07844	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	7	cd05062	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05051	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05050	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd06641	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05073	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05067	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05070	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05072	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd06642	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd06640	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05033	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05038	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05061	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05071	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05114	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05113	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05112	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd07845	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	5	cd05049	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	13	cd07865	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	20	cd06648	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	25	cd06639	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	9	cd05046	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	10	cd06646	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	10	cd06645	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	10	cd07866	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	11	cd05111	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05063	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05093	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05056	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	7	cd05068	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05091	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05090	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05048	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	7	cd05082	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05064	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	6	cd05036	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	17	cd06636	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	8	cd07864	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	7	cd06637	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	32	smart00467	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123	cd05104	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	12	cd06624	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	13	cd05053	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	13	cd05099	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	20_G	cd06659	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gln207Glu	VAR_058420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058420	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	21	cd06635	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	143_G	cd06638	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	134_G	cd06616	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	185_G	cd05032	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123	cd06613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	132_G	cd06612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	134_G	cd07832	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd08221	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	134_G	cd07841	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	122	cd07836	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	197_G	cd06606	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd08530	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	127	cd06627	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	127_G	cd06628	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	129_G	cd08220	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd08529	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd08223	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	117_G	cd08219	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	161	cd08215	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121	cd05578	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd06631	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	118	cd07857	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	135	cd05613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	224_G	cd07842	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	118_G	cd07839	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	131_G	cd07863	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126_G	cd07847	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	135_G	cd07837	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	135_G	cd06605	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	134_G	cd06622	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd06615	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	124_G	cd05034	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	119_G	cd05083	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	127_G	cd06917	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	143	cd06609	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd05612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	129_G	cd06610	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd07846	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	128_G	cd05080	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	124_G	cd06617	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	141	cd05088	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	236	cd05581	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd05052	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	152_G	cd07851	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	273	pfam07714	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	416_G	smart00219	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	208	pfam00069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	132_G	cd05074	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	144_G	cd05035	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	135	cd07835	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	500	smart00221	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	124_G	cd06611	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd08229	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126_G	cd08224	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	127_G	cd05065	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123	cd05066	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	129_G	cd05081	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126	cd05079	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd05059	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd05039	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126_G	cd05058	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	130	cd06629	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd06625	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	115_G	cd05570	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126_G	cd05087	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	112	cd05084	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	114	cd05041	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	131_G	cd05044	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	112_G	cd05085	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd05086	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd05040	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	116_G	cd05116	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd05060	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	324_G	cd00192	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	138_G	cd06632	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	142_G	cd05092	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	358	cd00180	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	114_G	cd05607	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	113_G	cd05579	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	119_G	cd05577	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	116_G	cd05608	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	632_G	cd05123	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	138	cd06658	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	172_G	cd06614	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	180_G	cd05057	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd07844	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	140_G	cd05062	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	182_G	cd05051	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	154_G	cd05050	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd06641	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd05073	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd05069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd05067	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd05070	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd05072	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd06642	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd06640	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	158	cd05033	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	148	cd05038	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	141_G	cd05061	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd05071	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd05114	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	122_G	cd05113	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd05112	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	141_G	cd07845	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	148_G	cd05049	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	122	cd06626	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123	cd07867	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	168_G	cd07840	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	139_G	cd07833	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	149	cd08217	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	143_G	cd07865	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	136	cd06648	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	118_G	cd05606	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	154_G	cd06639	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	207_G	cd05046	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd06646	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126	cd06645	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	148_G	cd07866	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	128_G	cd05111	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	419	smart00220	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	129_G	cd05063	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	141_G	cd05093	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	157_G	cd05056	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126_G	cd05068	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	143_G	cd05091	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	145_G	cd05090	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	148_G	cd05048	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd05082	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	128_G	cd05064	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	139_G	cd05036	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	124_G	cd05042	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	160_G	cd06608	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	160_G	cd07834	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	124_G	cd05148	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	150_G	cd05122	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	173_G	cd07830	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	164	cd06623	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126_G	cd05118	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	162_G	cd07829	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	140_G	cd06636	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	139_G	cd07864	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	130	cd06637	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	242	cd05104	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	132_G	cd06624	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	168	cd05053	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	152	cd05099	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	137	cd06659	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Glu	VAR_058421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058421	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	144_G	cd06635	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	143_G	cd06638	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	134_G	cd06616	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	185_G	cd05032	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123	cd06613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	132_G	cd06612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	134_G	cd07832	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd08221	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	134_G	cd07841	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	122	cd07836	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	197_G	cd06606	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd08530	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	127	cd06627	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	127_G	cd06628	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	129_G	cd08220	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd08529	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd08223	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	117_G	cd08219	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	161	cd08215	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121	cd05578	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd06631	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	118	cd07857	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	135	cd05613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	224_G	cd07842	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	118_G	cd07839	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	131_G	cd07863	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126_G	cd07847	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	135_G	cd07837	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	135_G	cd06605	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	134_G	cd06622	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd06615	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	124_G	cd05034	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	119_G	cd05083	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	127_G	cd06917	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	143	cd06609	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd05612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	129_G	cd06610	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd07846	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	128_G	cd05080	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	124_G	cd06617	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	141	cd05088	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	236	cd05581	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd05052	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	152_G	cd07851	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	273	pfam07714	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	416_G	smart00219	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	208	pfam00069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	132_G	cd05074	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	144_G	cd05035	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	135	cd07835	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	500	smart00221	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	124_G	cd06611	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd08229	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126_G	cd08224	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	127_G	cd05065	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123	cd05066	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	129_G	cd05081	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126	cd05079	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd05059	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd05039	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126_G	cd05058	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	130	cd06629	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd06625	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	115_G	cd05570	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126_G	cd05087	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	112	cd05084	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	114	cd05041	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	131_G	cd05044	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	112_G	cd05085	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd05086	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd05040	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	116_G	cd05116	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd05060	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	324_G	cd00192	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	138_G	cd06632	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	142_G	cd05092	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	358	cd00180	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	114_G	cd05607	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	113_G	cd05579	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	119_G	cd05577	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	116_G	cd05608	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	632_G	cd05123	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	138	cd06658	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	172_G	cd06614	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	180_G	cd05057	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd07844	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	140_G	cd05062	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	182_G	cd05051	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	154_G	cd05050	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd06641	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd05073	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd05069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd05067	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd05070	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd05072	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd06642	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd06640	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	158	cd05033	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	148	cd05038	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	141_G	cd05061	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd05071	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd05114	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	122_G	cd05113	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd05112	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	141_G	cd07845	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	148_G	cd05049	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	122	cd06626	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123	cd07867	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	168_G	cd07840	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	139_G	cd07833	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	149	cd08217	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	143_G	cd07865	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	136	cd06648	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	118_G	cd05606	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	154_G	cd06639	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	207_G	cd05046	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd06646	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126	cd06645	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	148_G	cd07866	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	128_G	cd05111	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	419	smart00220	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	129_G	cd05063	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	141_G	cd05093	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	157_G	cd05056	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126_G	cd05068	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	143_G	cd05091	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	145_G	cd05090	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	148_G	cd05048	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd05082	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	128_G	cd05064	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	139_G	cd05036	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	124_G	cd05042	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	160_G	cd06608	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	160_G	cd07834	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	124_G	cd05148	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	150_G	cd05122	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	173_G	cd07830	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	164	cd06623	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126_G	cd05118	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	162_G	cd07829	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	140_G	cd06636	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	139_G	cd07864	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	130	cd06637	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	242	cd05104	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	132_G	cd06624	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	168	cd05053	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	152	cd05099	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	137	cd06659	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Arg	VAR_058422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058422	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	144_G	cd06635	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	143_G	cd06638	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	134_G	cd06616	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	185_G	cd05032	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123	cd06613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	132_G	cd06612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	134_G	cd07832	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd08221	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	134_G	cd07841	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	122	cd07836	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	197_G	cd06606	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd08530	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	127	cd06627	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	127_G	cd06628	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	129_G	cd08220	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd08529	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd08223	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	117_G	cd08219	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	161	cd08215	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121	cd05578	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd06631	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	118	cd07857	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	135	cd05613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	224_G	cd07842	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	118_G	cd07839	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	131_G	cd07863	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126_G	cd07847	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	135_G	cd07837	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	135_G	cd06605	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	134_G	cd06622	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd06615	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	124_G	cd05034	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	119_G	cd05083	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	127_G	cd06917	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	143	cd06609	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd05612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	129_G	cd06610	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd07846	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	128_G	cd05080	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	124_G	cd06617	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	141	cd05088	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	236	cd05581	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd05052	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	152_G	cd07851	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	273	pfam07714	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	416_G	smart00219	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	208	pfam00069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	132_G	cd05074	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	144_G	cd05035	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	135	cd07835	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	500	smart00221	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	124_G	cd06611	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd08229	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126_G	cd08224	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	127_G	cd05065	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123	cd05066	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	129_G	cd05081	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126	cd05079	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd05059	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd05039	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126_G	cd05058	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	130	cd06629	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd06625	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	115_G	cd05570	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126_G	cd05087	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	112	cd05084	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	114	cd05041	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	131_G	cd05044	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	112_G	cd05085	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd05086	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd05040	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	116_G	cd05116	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd05060	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	324_G	cd00192	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	138_G	cd06632	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	142_G	cd05092	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	358	cd00180	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	114_G	cd05607	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	113_G	cd05579	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	119_G	cd05577	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	116_G	cd05608	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	632_G	cd05123	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	138	cd06658	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	172_G	cd06614	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	180_G	cd05057	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd07844	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	140_G	cd05062	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	182_G	cd05051	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	154_G	cd05050	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd06641	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd05073	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd05069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd05067	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd05070	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd05072	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd06642	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	120_G	cd06640	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	158	cd05033	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	148	cd05038	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	141_G	cd05061	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd05071	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd05114	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	122_G	cd05113	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	121_G	cd05112	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	141_G	cd07845	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	148_G	cd05049	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	122	cd06626	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123	cd07867	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	168_G	cd07840	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	139_G	cd07833	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	149	cd08217	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	143_G	cd07865	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	136	cd06648	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	118_G	cd05606	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	154_G	cd06639	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	207_G	cd05046	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	125_G	cd06646	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126	cd06645	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	148_G	cd07866	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	128_G	cd05111	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	419	smart00220	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	129_G	cd05063	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	141_G	cd05093	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	157_G	cd05056	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126_G	cd05068	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	143_G	cd05091	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	145_G	cd05090	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	148_G	cd05048	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	123_G	cd05082	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	128_G	cd05064	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	139_G	cd05036	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	124_G	cd05042	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	160_G	cd06608	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	160_G	cd07834	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	124_G	cd05148	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	150_G	cd05122	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	173_G	cd07830	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	164	cd06623	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	126_G	cd05118	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	162_G	cd07829	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	140_G	cd06636	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	139_G	cd07864	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	130	cd06637	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	242	cd05104	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	132_G	cd06624	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	168	cd05053	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	152	cd05099	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	137	cd06659	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly328Trp	VAR_058423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058423	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	144_G	cd06635	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	169	cd06638	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	160	cd06616	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	209	cd05032	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	148	cd06613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	160	cd06612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	165	cd07832	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	147	cd08221	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	162	cd07841	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	148	cd07836	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	235	cd06606	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	154	cd08530	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	155	cd06627	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	153	cd06628	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	156	cd08220	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	151	cd08529	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	147	cd08223	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	145	cd08219	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	205	cd08215	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	146	cd05578	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	149	cd06631	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	154	cd07857	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	163	cd05613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	255	cd07842	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	144	cd07839	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	156	cd07863	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	151	cd07847	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	164	cd07837	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	164	cd06605	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	161	cd06622	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	147	cd06615	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	152	cd05034	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	145	cd05083	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	156	cd06917	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	169	cd06609	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	146	cd05612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	157	cd06610	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	146	cd07846	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	152	cd05080	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	150	cd06617	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	169	cd05088	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	261	cd05581	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	149	cd05052	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	179	cd07851	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	320	pfam07714	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	458	smart00219	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	256	pfam00069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	158	cd05074	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	168	cd05035	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	172	cd07835	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	623	smart00221	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	150	cd06611	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	151	cd08229	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	152	cd08224	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	151	cd05065	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	151	cd05066	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	153	cd05081	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	154	cd05079	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	147	cd05059	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	151	cd05039	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	150	cd05058	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	155	cd06629	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	151	cd06625	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	143	cd05570	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	150	cd05087	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	139	cd05084	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	141	cd05041	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	162	cd05044	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	139	cd05085	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	145	cd05086	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	153	cd05040	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	140	cd05116	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	147	cd05060	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	365	cd00192	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	164	cd06632	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	167	cd05092	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	445	cd00180	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	140	cd05607	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	141	cd05579	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	145	cd05577	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	142	cd05608	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	661	cd05123	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	163	cd06658	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	197	cd06614	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	207	cd05057	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	149	cd07844	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	164	cd05062	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	210	cd05051	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	178	cd05050	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	146	cd06641	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	148	cd05073	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	147	cd05069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	147	cd05067	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	147	cd05070	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	148	cd05072	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	146	cd06642	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	146	cd06640	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	183	cd05033	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	177	cd05038	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	165	cd05061	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	147	cd05071	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	145	cd05114	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	146	cd05113	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	145	cd05112	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	166	cd07845	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	177	cd05049	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	148	cd06626	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	157	cd07867	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	195	cd07840	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	172	cd07833	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	216	cd08217	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	169	cd07865	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	161	cd06648	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	143	cd05606	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	180	cd06639	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	231	cd05046	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	151	cd06646	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	151	cd06645	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	176	cd07866	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	154	cd05111	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	530	smart00220	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	153	cd05063	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	165	cd05093	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	181	cd05056	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	150	cd05068	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	169	cd05091	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	169	cd05090	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	172	cd05048	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	147	cd05082	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	152	cd05064	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	166	cd05036	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	148	cd05042	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	188	cd06608	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	191	cd07834	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	150	cd05148	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	180	cd05122	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	221	cd07830	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	194	cd06623	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	154	cd05118	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	195	cd07829	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	166	cd06636	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	163	cd07864	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	156	cd06637	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	269	cd05104	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	159	cd06624	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	195	cd05053	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	179	cd05099	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	162	cd06659	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Gly356Asp	VAR_058424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058424	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	170	cd06635	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	184	cd06638	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	179_G	cd06616	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	221	cd05032	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	163	cd06613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	176	cd06612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	182	cd07832	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	164	cd08221	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	197	cd07841	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	163	cd07836	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	276	cd06606	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	168	cd08530	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	203	cd06627	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	175	cd06628	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	170_G	cd08220	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	166	cd08529	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	162	cd08223	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	160	cd08219	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	228	cd08215	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	166	cd05578	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	171	cd06631	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	173	cd07857	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	179_G	cd05613	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	275	cd07842	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	159	cd07839	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	170	cd07863	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	167_G	cd07847	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	179	cd07837	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	179	cd06605	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	174_G	cd06622	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	160	cd06615	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	168	cd05034	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	161	cd05083	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	173_G	cd06917	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	189	cd06609	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	158_G	cd05612	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	179	cd06610	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	162_G	cd07846	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	174	cd05080	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	164	cd06617	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	187_G	cd05088	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	282	cd05581	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	168	cd05052	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	194_G	cd07851	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	341	pfam07714	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	536	smart00219	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	289	pfam00069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	176	cd05074	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	188_G	cd05035	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	187	cd07835	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	721	smart00221	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	165	cd06611	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	166	cd08229	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	167	cd08224	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	168	cd05065	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	170	cd05066	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	171	cd05081	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	172	cd05079	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	160_G	cd05059	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	170	cd05039	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	170	cd05058	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	173	cd06629	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	169	cd06625	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	158_G	cd05570	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	167	cd05087	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	157	cd05084	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	162_G	cd05041	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	179	cd05044	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	151	cd05085	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	162	cd05086	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	165	cd05040	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	159	cd05116	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	162	cd05060	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	394	cd00192	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	182	cd06632	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	185	cd05092	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	620	cd00180	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	154	cd05607	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	703	cd05579	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	160	cd05577	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	157	cd05608	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	729	cd05123	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	178	cd06658	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	211	cd06614	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	226	cd05057	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	164	cd07844	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	176	cd05062	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	222	cd05051	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	198	cd05050	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	161	cd06641	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	161	cd05073	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	160	cd05069	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	166	cd05067	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	160	cd05070	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	165	cd05072	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	161	cd06642	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	161	cd06640	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	202	cd05033	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	195	cd05038	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	183	cd05061	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	160	cd05071	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	164	cd05114	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	159	cd05113	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	158	cd05112	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	183	cd07845	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	189	cd05049	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	195	cd06626	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	175	cd07867	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	221	cd07840	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	205	cd07833	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	231_G	cd08217	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	190	cd07865	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	172	cd06648	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	156_G	cd05606	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	195	cd06639	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	248	cd05046	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	166	cd06646	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	166	cd06645	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	204	cd07866	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	172	cd05111	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	657	smart00220	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	172	cd05063	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	183	cd05093	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	200	cd05056	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	170	cd05068	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	186_G	cd05091	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	187	cd05090	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	193_G	cd05048	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	163_G	cd05082	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	173	cd05064	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	185	cd05036	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	166	cd05042	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	203	cd06608	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	247	cd07834	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	170_G	cd05148	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	200	cd05122	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	231	cd07830	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	214	cd06623	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	172	cd05118	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	214	cd07829	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	181	cd06636	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	180	cd07864	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	171	cd06637	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	287	cd05104	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	174	cd06624	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	213	cd05053	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	197	cd05099	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	176	cd06659	4501895,NP_001096|166235898,NP_001104537
90	462447	Disease	p.Arg375Pro	VAR_058425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058425	- Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	SWISS	181	cd06635	4501895,NP_001096|166235898,NP_001104537
93	97535735	Disease	p.Arg40His	VAR_013281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013281	- Visceral heterotaxy autosomal type 4 (HTX4) [MIM:602730]	SWISS	25	pfam01064	116734708,NP_001097
93	97535735	Disease	p.Val494Ile	VAR_013282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013282	- Visceral heterotaxy autosomal type 4 (HTX4) [MIM:602730]	SWISS	521	cd07834	116734708,NP_001097
93	97535735	Disease	p.Val494Ile	VAR_013282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013282	- Visceral heterotaxy autosomal type 4 (HTX4) [MIM:602730]	SWISS	272	cd05608	116734708,NP_001097
94	3915750	Disease	p.Gly48Arg	VAR_026785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026785	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	56	pfam01064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp50Cys	VAR_006204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006204	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	58	pfam01064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys51Tyr	VAR_006205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006205	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	59	pfam01064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg67Gln	VAR_006206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006206	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	78	pfam01064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg67Trp	VAR_026786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026786	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	78	pfam01064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys77Trp	VAR_006207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006207	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	100	pfam01064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asn96Asp	VAR_006208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006208	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	138	pfam01064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp179Ala	VAR_026787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026787	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	8	pfam08515	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp179Ala	VAR_026787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026787	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	8	smart00467	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp179Ala	VAR_026787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026787	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	3	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	14	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	12	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	10	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	11	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	13	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	6	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	6	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	6	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	6	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	6	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	6	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	6	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	6	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	6	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	6	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	6	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	11	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	14	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	14	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	19	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	4	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	4	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	4	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	4	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	30	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	20	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	20	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	20	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	11	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	10	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	11	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	12	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	12	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	13	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	12	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	12	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	12	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	12	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	12	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	13	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	12	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	19	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	24	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	12	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	23	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	23	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	27	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	19	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	13	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	13	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	10	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	12	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	10	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	10	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	14	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	10	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	10	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	10	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	31	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	11	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	11	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	11	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	11	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	11	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	11	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	11	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	11	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	12	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	11	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	11	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	11	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	33	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	26	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly211Asp	VAR_026788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026788	rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	14	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	10	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	10	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	10	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	10	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	10	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	10	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	10	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	10	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	10	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	10	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	10	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	23	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	8	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	11	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	8	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	8	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	34	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	24	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	24	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	24	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	14	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	4	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	19	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	22	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	23	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	33	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	22	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	19	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	19	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	19	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	19	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	19	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	19	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	20	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	20	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	20	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	19	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	28	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	20	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	22	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	27	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	27	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	31	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	22	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	22	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	20	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	33	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	23	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	17	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	19	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	19	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	19	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	19	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	19	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	14	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	14	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	14	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	14	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	14	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	14	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	35	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	33	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	14_G	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	22	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	22	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	15	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	37	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	20	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	20	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	20	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	20	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	20	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	20	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	20	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	20	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	20	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	30	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	22	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	22	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu215Lys	VAR_026789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026789	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	48	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	28	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	57	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	25	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	27	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	19	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	20	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	67	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	25	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	26	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	28	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	31	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	21	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	58	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	18	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	44	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	34	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	34	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	34	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	31_G	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	24	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	27	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	16	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	26	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	26	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	25	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	24	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	23	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	26	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	26	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	33	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	36	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	23	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	25	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	23	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	31	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	41	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	33	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	32	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	27	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	28	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	27	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	27	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	28	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	32	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	28	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	36	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	30	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	34	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	26	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	35	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	35	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	41	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	32	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	30	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	28	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	43	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	31	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	33	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	32	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	27	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	28	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	27	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	33	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	32	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	33	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	27	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	25	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	26	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	26	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	24	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	48	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	22	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	22	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	22	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	50	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	41	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	20	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	27	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	23	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	25	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	28	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	25	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	40	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	25	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	25	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	38	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	26	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	27	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	23	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	25	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	47	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	28	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	32	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	28	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	34	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	28	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	28	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	28	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	36	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	29	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	37	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	38	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	32	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	32	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Gly223Arg	VAR_026790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026790	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	31	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	54	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	34	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	63	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	31	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	33	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	24	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	30	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	25	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	32	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	26	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	31	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	33	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	36	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	26	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	28	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	73	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	31	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	41	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	34	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	73	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	27	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	64	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	24	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	24	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	50	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	40	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	40	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	40	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	36	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	30	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	33	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	77	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	32	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	32	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	35	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	33	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	35	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	36	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	37	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	32	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	32	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	39	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	43	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	32	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	45	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	32	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	77	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	56	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	42	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	38	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	35	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	36	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	36	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	36	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	36	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	36	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	36	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	35	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	34	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	34	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	34	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	62	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	41	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	41	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	101	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	42	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	35	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	43	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	41	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	55	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	37	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	40	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	32	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	50	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	50	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	47	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	42	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	36	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	41	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	49	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	37	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	39	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	35	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	38	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	33	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	34	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	38	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	39	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	38	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	39	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	34	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	121	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	32	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	102	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	40	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	54	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	33	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	32	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	43	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	56	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	62	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	26	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	33	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	36	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	31	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	34	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	31	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	46	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	31	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	31	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	44	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	32	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	33	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	36	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	31	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	53	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	41	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	41	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	41	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	35	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	40	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	36	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	64	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	40	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	39	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	42	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	52	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	40	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	55	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	53	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	42	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	38	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys229Arg	VAR_026791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026791	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	37	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	127_G	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	108	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	127	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	88	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	93	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	80	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	87	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	82	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	86	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	80	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	85	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	87	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	91	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	81	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	83	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	149	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	106	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	98	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	89	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	154	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	123	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	285	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	87	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	80	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	103	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	106	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	93	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	93	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	86	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	94	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	113	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	315	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	91	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	95	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	90	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	88	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	85	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	88	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	86	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	102	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	87	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	95	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	95	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	86	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	102	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	88	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	139	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	111	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	96	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	97	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	89	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	87	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	88	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	87	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	87	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	88	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	87	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	89	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	86	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	86	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	86	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	116	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	105	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	95	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	155	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	103	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	89	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	129	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	97	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	120	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	90	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	111	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	89	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	105	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	105	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	106	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	95	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	95	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	94	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	107	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	89	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	97	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	91	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	126	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	93	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	90	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	92	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	94	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	92	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	95	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	86	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	382	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	95	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	252	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	148	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	94	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	93	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	104	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	117	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	145	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	85	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	99	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	91	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	87	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	113	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	96	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	111	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	87	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	87	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	162	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	92	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	88	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	89	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	85	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	118	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	94	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	94	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	95	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	87	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	94	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	88	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	122	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	94	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	93	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	96	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	106	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	96	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	109	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	108	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	95	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	103	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu285Phe	VAR_026794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026794	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	96	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	150	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	131	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	161	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	114	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	115	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	103	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	113	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	109	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	119	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	103	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	112	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	111	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	114	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	105	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	105	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	316	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	122	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	124	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	112	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	624	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	339	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	109	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	104	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	123	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	132	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	115	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	115	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	111	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	118	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	149	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	377	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	126	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	122	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	128	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	121	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	109	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	110	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	110	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	127	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	109	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	116	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	117	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	113	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	132	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	110	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	145	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	129	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	130	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	110	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	111	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	108	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	111	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	107	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	112	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	111	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	110	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	109	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	109	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	110	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	142	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	137	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	118	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	128	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	110	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	160	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	120	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	151	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	114	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	111	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	139	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	143	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	130	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	118	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	118	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	114	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	133	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	113	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	122	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	115	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	155	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	115	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	116	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	111	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	117	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	111	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	118	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	111	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	470	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	119	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	393	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	263	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	122	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	136	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	132	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	157	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	109	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	124	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	115	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	111	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	147	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	120	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	140	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	111	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	110	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	116	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	119	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	115	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	108	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	118	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	129	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	133	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	111	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	133	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	114	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	145	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	117	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	112	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	136	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	127	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	127	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	142	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	118	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	127	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala306Pro	VAR_026795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026795	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	120	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	139	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	122	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	123	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	111	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	121	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	117	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	127	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	111	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	120	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	119	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	122	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	113	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	113	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	324	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	136	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	132	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	120	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	632	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	347	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	117	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	112	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	133	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	148	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	123	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	123	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	119	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	126	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	157	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	385	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	127	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	136	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	129	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	117	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	120	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	118	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	135	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	117	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	124	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	125	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	121	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	140	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	118	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	233	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	152	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	137	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	138	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	118	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	119	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	116	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	119	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	115	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	120	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	117	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	118	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	117	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	117	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	118	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	150	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	145	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	126	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	136	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	118	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166_G	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	128	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	159	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	122	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	152	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	119	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	146	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	151	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	138	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	126	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	126	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	126	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	121	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	130	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	123	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	160	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	123	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	124	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	119	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	125	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	119	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	125_G	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	119	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	478	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	127	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	401	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	271	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	130	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	140	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	167	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	117	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	132	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	123	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	119	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	155	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	128	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	150	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	119	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	118	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	124	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	127	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	123	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	116	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	152	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	127	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	137	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	119	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	122	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	153	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	125	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	119	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	135	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	135	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	142	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	149	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	126	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	135	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.His314Tyr	VAR_026796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026796	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	128	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	177	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	150	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	160	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	122	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	132	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	128	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	138	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	122	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	131	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	130	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	133	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	124	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	140	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	337	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	147	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	143	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	131	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	644	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	369	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	128	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	123	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	159	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	130	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	137	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	430	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	146	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	138	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	147	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	140	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	128	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	131	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	130	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	146	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	135	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	152	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	133	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	151	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	129	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	244	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	148	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	149	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	129	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	130	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	131	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	130	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	130	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	131	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	130	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	129	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	128	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	128	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	129	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	156	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	161	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	147	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	129	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	155	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	133	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	130	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	162	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	149	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	137	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	137	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	150	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	152	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	132	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	135	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	136	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	137	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	130	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	540	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	138	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	425	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	284	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	155	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	151	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	128	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	143	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	130	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	139	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	162	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	130	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	129	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	135	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	138	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	127	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	163	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	151	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	148	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	152	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	130	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	152	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	133	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	164	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	136	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	135	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	155	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	159	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	146	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	165	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	137	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	146	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ser333Ile	VAR_006210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006210	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	139	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	154	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	164	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	138	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	126	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	136	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	132	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	142	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	126	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	135	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	137	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	128	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	341	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	151	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	147	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	135	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	648	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	373	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	132	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	127	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	148	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	163	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	138	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	138	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	135	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	435	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	150	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	142	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	151	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	132	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	135	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	150	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	138	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	139	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	156	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	137	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	155	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	133	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	248	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	152	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	153	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	133	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	135	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	135	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	133	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	132	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	132	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	133	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	160	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	165	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	151	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	133	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	159	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	137	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	182	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	153	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	154	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	156	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	136	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	145	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	138	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	138	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	139	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	138	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	140	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	138	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	544	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	142	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	429	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	223	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	288	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	145	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	159	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	155	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	132	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	147	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	138	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	135	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	143	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	133	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	139	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	142	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	138	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	131	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	167	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	155	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	152	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	156	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	156	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	137	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	140	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	139	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	159	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	163	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	150	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	150	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Leu337Pro	VAR_026797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026797	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	143	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	145	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	133	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	147	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	139	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	152	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	133	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	142	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	135	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	151	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	359	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	158	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	154	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	142	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	655	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	439	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	139	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	134	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	155	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	145	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	145	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	148	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	507	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	158	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	150	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	158	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	151	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	139	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	146	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	157	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	145	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	146	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	163	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	163	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	140	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	255	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	159	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	160	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	140	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	142	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	142	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	140	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	139	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	139	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	140	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	177	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	158	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	140	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	142	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	160	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	148	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	148	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	161	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	163	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	143	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	152	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	145	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	182	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	145	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	146	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	145	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	147	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	145	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	148	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	600	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	149	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	452	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	314	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	152	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	162	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	139	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	159	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	145	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	150	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	140	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	229	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	149	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	150	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	148	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	138	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	162	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	159	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	163	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	163	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	147	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	146	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	160	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	148	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	157	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Cys344Tyr	VAR_026798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026798	rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	150	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	148	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	136	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	150	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	142	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	159	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	136	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	145	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	147	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	138	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	154	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	362	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	161	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	157	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	145	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	658	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	442	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	142	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	137	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	158	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	148	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	148	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	151	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	527	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	161	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	153	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	161	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	154	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	142	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	149	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	161	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	148	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	149	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	147	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	143	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	258	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	182	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	162	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	163	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	143	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	145	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	145	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	143	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	142	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	142	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	143	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	228	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	161	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	143	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	147	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	145	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	163	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	151	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	151	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	164	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	146	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	156	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	148	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	148	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	149	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	148	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	150	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	148	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	151	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	620	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	152	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	455	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	253	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	317	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	155	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	165	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	142	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	162	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	148	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	153	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	177	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	143	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	152	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	153	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	151	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	141	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	177	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	165	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	162	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	144	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	147	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	150	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	149	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	163	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	151	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	160	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala347Pro	VAR_026799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026799	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	153	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	226	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	240	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	236	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	161_G	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	167	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	160_G	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174_G	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	163_G	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	396	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	734	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	625	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	165	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	159	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	177	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	664	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	162_G	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	165	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175_G	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	167	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	402	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207_G	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	167	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	252	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171_G	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201_G	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217_G	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176_G	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176_G	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173_G	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	177	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	727	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	552	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	294	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	347	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180_G	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194_G	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190_G	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	230_G	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	165	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	167	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	233	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	281	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	164	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	164	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174_G	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204_G	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174_G	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189_G	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204_G	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176_G	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Gln	VAR_026800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026800	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	226	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	240	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	236	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	161_G	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	167	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	160_G	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174_G	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	163_G	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	396	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	734	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	625	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	165	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	159	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	177	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	664	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	162_G	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	165	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175_G	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	167	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	402	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207_G	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	167	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	252	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171_G	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201_G	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217_G	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176_G	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176_G	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173_G	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	177	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	727	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	552	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	294	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	347	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180_G	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194_G	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190_G	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	230_G	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	165	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	167	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	233	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	281	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	164	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	164	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174_G	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204_G	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174_G	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189_G	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204_G	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176_G	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg374Trp	VAR_006211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006211	rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	228	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	242	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	238	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	163	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	162	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172_G	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	165	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	398	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	233	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	736	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	627	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	167	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	161	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	707	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	164	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	167	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	177	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	404	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	254	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	233	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173_G	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	770	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	554	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	296	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	349	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	182	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	167	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	235	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	177	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	283	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	177	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Arg	VAR_006212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006212	rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	228	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	242	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	238	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	163	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	162	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172_G	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	165	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	398	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	233	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	736	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	627	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	167	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	161	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	707	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	164	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	167	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	177	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	404	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	254	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	233	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173_G	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	770	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	554	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	296	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	349	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	182	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	167	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	235	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	177	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	283	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	177	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Met376Val	VAR_026801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026801	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	230	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	244	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	240	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	165	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	182	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	164	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	167	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	400	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	235	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	738	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	629	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	163	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	223	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	709	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	182	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	406	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	211	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	256	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	235	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	223	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	772	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	182	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	556	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	298	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	354	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	223	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	234	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	237	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	285	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	177	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro378Leu	VAR_026802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026802	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	245	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	241	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	166	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	165	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	168	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	401	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	236	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	739	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	630	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	164	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	182	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	224	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	710	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	167	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	177	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	407	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	174	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	257	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	235_G	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	224	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	222	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	175	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	177	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	182	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	173	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	773	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	557	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	303	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	355	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	224	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	235	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	170	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	172	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	238	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	171	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	176	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	286	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	169	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu379Lys	VAR_026803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026803	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	282	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	242	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	258	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	255	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	177	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	420	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	248	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	794	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	667	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	177	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	237	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	776	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	182	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	433	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	224	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	227	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	220	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	269	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	254	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	229	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	241	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	229	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	234	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	211	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	235	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	837	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	571	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	334	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	379	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	211	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	236	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	247	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	182	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	251	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	227	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	328	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	227	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	182	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	222	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	211	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Asp397Gly	VAR_026804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026804	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	283	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	243	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	259	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	256	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	421	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	249	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	795	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	668	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	178	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	233	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	238	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	777	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	434	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	228	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	270	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	255	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	230	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	242	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	230	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	235	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	236	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	838	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	572	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	335	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	380	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	237	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	248	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	252	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	228	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	329	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	228	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	223	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	182	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	222	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	226	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	222	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ile398Asn	VAR_026805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026805	rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	284	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	244	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	260	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	257	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	180	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	182	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	422	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	250	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	796	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	669	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	179	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	234	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	239	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	778	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	181	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	435	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	226	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	229	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	222	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	271	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	256	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	243	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	220	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	236	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	237	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	839	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	573	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	336	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	381	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	238	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	249	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	186	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	253	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	229	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	185	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	330	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	229	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	184	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	224	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	183	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	223	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	227	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	223	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Trp399Ser	VAR_026806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026806	rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	292	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	252	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	268	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	265	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198_G	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	211	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	430	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	258	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	804	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	677	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	242	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	247	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	786	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	189	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	223	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	443	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	234	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	237	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	230	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	227	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	279	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	264	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	226	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	239	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	251	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	239	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	228	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	244	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	245	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	858	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	582	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	344	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	389	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	246	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	257	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	261	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	237	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	193	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	338	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	237	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	224	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	191	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	235	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Glu407Asp	VAR_026807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026807	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	296	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	274	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	271_G	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	269	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198_G	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188_G	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206_G	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201_G	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213_G	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187_G	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207_G	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	432_G	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	220_G	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214_G	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203_G	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	260_G	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	808	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	681	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208_G	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	247	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203_G	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203_G	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	251	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	790	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219_G	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190_G	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207_G	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202_G	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225_G	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	454	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	236_G	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217_G	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196_G	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197_G	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196_G	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197_G	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194_G	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194_G	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	238_G	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	234	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	283	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215_G	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	271	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	227_G	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	241_G	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	255	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	242_G	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	230_G	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	246_G	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	222	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204_G	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217_G	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200_G	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	247_G	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201_G	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202_G	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202_G	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205_G	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204_G	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206_G	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196_G	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	864	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	586	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	348	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	393	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	211	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	264	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	258_G	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194_G	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	265_G	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	241	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	340_G	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	239_G	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203_G	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	234_G	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225_G	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215_G	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219_G	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192_G	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219_G	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202_G	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232_G	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204_G	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202_G	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	244	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217_G	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	235_G	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	233_G	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204_G	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Pro	VAR_026808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026808	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	296	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	274	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	271_G	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	269	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198_G	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188_G	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206_G	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201_G	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213_G	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187_G	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207_G	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	432_G	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	220_G	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214_G	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203_G	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	260_G	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	808	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	681	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208_G	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	247	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203_G	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203_G	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	251	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	790	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219_G	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190_G	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207_G	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202_G	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225_G	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	454	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	236_G	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217_G	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196_G	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197_G	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196_G	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197_G	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194_G	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194_G	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	238_G	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	234	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	283	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215_G	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	271	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	227_G	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	241_G	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	255	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	242_G	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	230_G	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	246_G	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	222	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204_G	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217_G	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200_G	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	247_G	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201_G	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202_G	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202_G	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205_G	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204_G	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206_G	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196_G	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	864	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	586	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	348	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	393	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	211	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	264	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	258_G	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194_G	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	265_G	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	241	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	340_G	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	239_G	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203_G	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	234_G	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225_G	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215_G	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219_G	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192_G	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219_G	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202_G	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232_G	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204_G	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202_G	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	244	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217_G	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	235_G	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	233_G	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204_G	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Gln	VAR_006213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006213	rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	296	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	274	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	271_G	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	269	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198_G	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	188_G	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206_G	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201_G	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213_G	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	187_G	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207_G	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	432_G	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	220_G	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214_G	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203_G	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	260_G	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	808	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	681	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208_G	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	247	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203_G	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203_G	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	251	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	790	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219_G	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	190_G	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207_G	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202_G	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225_G	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	454	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	236_G	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217_G	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196_G	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197_G	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196_G	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197_G	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194_G	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194_G	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	238_G	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	234	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	283	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215_G	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	271	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	227_G	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	241_G	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	255	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	242_G	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	230_G	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	246_G	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	222	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204_G	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217_G	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200_G	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	247_G	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201_G	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202_G	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202_G	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205_G	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204_G	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206_G	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196_G	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	864	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	586	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	348	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	393	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	211	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	264	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	258_G	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	194_G	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	265_G	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	241	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	340_G	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	239_G	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203_G	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	234_G	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225_G	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215_G	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219_G	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	192_G	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219_G	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202_G	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232_G	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204_G	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202_G	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	244	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217_G	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	235_G	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	233_G	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204_G	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg411Trp	VAR_026809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026809	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	299	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	300	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	275	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	272	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196_G	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219_G	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195_G	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	233	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219_G	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	441	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	266_G	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	811	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	694	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	262	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	220_G	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	239	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	290	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	794	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	278	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	226_G	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	223	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	197	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	220	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231_G	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	230	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	236	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	477	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	242_G	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	222	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231_G	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203_G	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	211	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204_G	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201_G	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202_G	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	245_G	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	248	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	235	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	288	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221_G	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	273_G	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	234	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	270	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	223	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	258	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	246	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	236_G	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	253	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	235	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	211_G	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	224	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	246	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	234	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	252	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	217	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	211	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	940	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	236	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	608	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	362	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	398	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215_G	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	229_G	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	273	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	265_G	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	199	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	269	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	237	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	269	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	244	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	346	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	244	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	229	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	239	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	222	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	226	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209_G	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	239	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	211	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	275	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	242_G	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	224	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	247	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	239_G	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	240	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Pro424Thr	VAR_006214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006214	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	300	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	301	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	276	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	273	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196_G	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219_G	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195_G	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	234	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	220	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	442	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	226	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	220	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	266_G	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	812	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	695	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	263	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	220_G	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	240	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	291	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	795	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	279	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	227	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	224	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	233	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	233	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	237	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	478	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	242_G	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	223	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203_G	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204_G	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	211	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201_G	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202_G	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	245_G	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	249	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	236	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	289	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221_G	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	211	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	273_G	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	235	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	276	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	224	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	259	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	247	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	236_G	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	253_G	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	236	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	211_G	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	247	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	235	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	253	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203_G	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	941	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	237	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	609	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	363	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	413	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215_G	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	229_G	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225_G	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	274	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	265_G	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	270	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	238	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	222	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	270	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	222	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	245	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	211	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	347	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	245	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	230	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	240	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	233	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	223	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	227	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209_G	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	240	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	276	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	242_G	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	248	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	239_G	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	241	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Leu	VAR_026810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026810	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	226	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	300	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	301	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	276	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	273	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	196_G	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219_G	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	195_G	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	234	cd05060	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd05041	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	220	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	442	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	226	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	220	cd06612	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	266_G	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	812	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	695	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd05577	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd05607	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	263	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	220_G	cd08221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	240	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	291	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	795	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	279	cd06605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	227	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	224	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	198	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	233	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	233	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	214	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215	cd06617	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	231	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	237	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	478	cd05581	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	242_G	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	223	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203_G	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204_G	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	204	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	211	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	201_G	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	202_G	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	245_G	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	249	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	236	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	289	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	221_G	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	211	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	273_G	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	235	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	276	cd05043	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	224	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	259	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	247	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	236_G	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	253_G	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	236	cd06636	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	211_G	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	247	cd06638	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	235	cd05039	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	253	cd06608	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	206	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	207	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	218	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	219	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	203_G	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	941	smart00221	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	237	cd06629	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	609	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	363	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	413	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	215_G	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	229_G	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225_G	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	274	cd06614	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	265_G	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	200	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	270	cd07832	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	238	cd08529	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	222	cd08223	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	270	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	222	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	245	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	211	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	347	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	245	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	230	cd08220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	208	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	213	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	240	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	233	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	223	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	232	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	205	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	227	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	209_G	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	240	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	212	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	210	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	276	cd05048	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	242_G	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	225	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	248	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	239_G	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	216	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	241	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Phe425Val	VAR_026811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026811	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	226	cd06637	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	408	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	359	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	384	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	317	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	257_G	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	240	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	259	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	257	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	263	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	239	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	261	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	253	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	255	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	510	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	271	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	256	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	314	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	912	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	851	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	262	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	341	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	256	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	256	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	299	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	353	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	1197	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	261	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	262	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	280	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	241	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	260	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	313	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	290	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	292	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	268	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	289_G	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	283	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	295	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	286	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	266	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	304	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	244	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	247	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	248	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	273	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	247	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	248	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	247	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	261	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	245	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	245	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	246	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	289	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	316	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	279	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	333	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	265	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	265	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	340	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	281	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	283	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	329	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	296	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	280	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	297	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	255	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	294	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	268	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	249	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	261	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	252	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	254	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	253	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	270	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	255	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	270	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	247	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	690	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	457	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	472	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	259	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	273	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	270	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	309	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	246_G	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	326	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	279	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	342	cd05122	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	277	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	271	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	418	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	291	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	252	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	274	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	289	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	329	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	266	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	270	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	243	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	270	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	253	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	284	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	255	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	253	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	285	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	268	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	296	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	283	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	255	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg479Leu	VAR_026813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026813	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	294	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	411	cd07840	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	362	cd07833	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	387	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	320	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	260	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	243	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	262	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	260	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	266	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	242	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	264	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	256	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	258	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	513	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	274	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	259	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	317	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	915	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	854	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	265	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	344	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	259	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	259	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	302	cd05118	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	356	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	1215	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	264	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	265	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	283	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	244	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	263	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	319	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	293	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	295	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	271	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	291	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	286	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	299	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	289	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	269	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	307	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	247	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	250	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	251	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	276	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	250	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	251	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	250	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	264	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	248	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	248	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	249	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	292	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	319	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	282	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	336	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	268	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	268	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	343	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	284	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	286	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	332	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	299	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	283	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	300	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	258	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	297	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	271	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	252	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	264	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	255	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	257	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	256	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	273	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	258	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	273	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	250	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	693	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	465	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	475	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	262	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	276	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	273	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	312	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	248	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	329	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	282	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	280	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	274	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	421	cd06606	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	294	cd06627	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	254_G	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	277	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	294	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	332	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	269	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	273	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	246	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	273	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	256	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	287	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	258	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	256	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	288	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	271	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	299	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	286	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	258	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Ala482Val	VAR_026814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026814	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	297	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	393	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	322	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	262	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	245	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	264	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	262	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	268	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	244	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	266	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	258	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	260	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	518	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	276	cd06632	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	265	cd06613	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	319	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	924	cd05123	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	866	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	269	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	346	cd07866	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	261	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	261	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	358	cd07829	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	1227	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	269	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	267	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	288	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	246	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	265	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	321	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	295	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	297	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	273	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	293	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	297	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	301	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	291	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	271	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	307_G	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	258	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	252	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	253	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	278	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	252	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	253	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	252	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	272	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	250	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	250	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	251	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	294	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	321	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	284	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	338	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	270	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	270	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	345	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	293	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	288	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	336	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	303	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	285	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	302	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	260	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	299	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	281	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	254	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	266	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	257	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	262	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	258	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	275	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	260	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	275	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	252	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	695	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	467	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	477	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	264	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	278	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	275	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	314	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	250	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	331	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	284	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	282	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	276	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	254_G	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	279	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	296	cd06639	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	334	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	271	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	275	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	248	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	275	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	258	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	289	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	260	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	258	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	290	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	273	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	301	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	288	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	260	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Arg484Trp	VAR_026815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026815	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	297_G	cd07864	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	396	cd07830	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	325	cd08217	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	265	cd06625	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	248	cd05084	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	267	cd05040	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	265	cd05086	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	271	cd05044	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	247	cd05085	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	269	cd05042	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	261	cd05058	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	263	cd05047	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	521	cd00192	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	322	cd05032	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	869	cd00180	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	272	cd06648	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	264	cd06646	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	262_G	cd06645	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	1236	smart00220	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	274	cd06917	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	270	cd05089	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	291	cd06610	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	249	cd05083	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	268	cd05034	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	324	cd06615	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	299	cd07837	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	300	cd07847	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	276	cd05080	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	296	cd05088	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	300	cd06609	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	304	cd07846	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	294	cd05098	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	274	cd05061	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	309	cd07845	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	261	cd06641	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	255	cd05070	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	256	cd05072	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	281	cd05067	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	255	cd05069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	256	cd05073	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	255	cd05071	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	275	cd06640	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	253	cd05114	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	253	cd05112	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	254	cd05113	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	297	cd05033	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	324	cd05038	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	287	cd05050	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	341	cd05046	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	273	cd05062	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	273	cd06642	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	348	cd05051	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	296	cd05049	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	291	cd05148	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	339	cd06623	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	306	cd06626	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	288	cd05099	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	305	cd05053	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	263	cd05109	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	302	cd05108	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	284	cd05092	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	257	cd05052	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	269	cd06624	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	260	cd08229	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	265	cd08224	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	261	cd05066	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	278	cd05081	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	263	cd05065	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	278	cd05079	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	255	cd05059	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	702	smart00219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	470	pfam00069	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	483	pfam07714	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	267	cd05074	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	281	cd05075	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	278	cd05035	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	317	cd05057	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	253	cd08219	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	334	cd08215	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	287	cd07863	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	285	cd05605	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	279	cd05578	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	257	cd08530	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	283	cd07839	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	337	cd05094	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	274	cd05093	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	278	cd05091	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	251	cd05082	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	278	cd05090	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	261	cd05068	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	292	cd05056	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	263	cd05063	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	261	cd05064	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	293	cd05097	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	276	cd05036	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	304	cd05095	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	291	cd05101	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	263	cd05111	116734714,NP_001070869|116734712,NP_000011
94	3915750	Disease	p.Lys487Thr	VAR_026816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026816	- Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]	SWISS	299	cd07864	116734714,NP_001070869|116734712,NP_000011
95	461466	Disease	p.Arg197Trp	VAR_043113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043113	- Aminoacylase-1 deficiency (ACY1D) [MIM:609924]	SWISS	344	COG0624	4501901,NP_000657
95	461466	Disease	p.Arg197Trp	VAR_043113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043113	- Aminoacylase-1 deficiency (ACY1D) [MIM:609924]	SWISS	10	pfam07687	4501901,NP_000657
95	461466	Disease	p.Arg197Trp	VAR_043113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043113	- Aminoacylase-1 deficiency (ACY1D) [MIM:609924]	SWISS	280	pfam01546	4501901,NP_000657
95	461466	Disease	p.Glu233Asp	VAR_026104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026104	- Aminoacylase-1 deficiency (ACY1D) [MIM:609924]	SWISS	389	COG0624	4501901,NP_000657
95	461466	Disease	p.Glu233Asp	VAR_026104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026104	- Aminoacylase-1 deficiency (ACY1D) [MIM:609924]	SWISS	86	pfam07687	4501901,NP_000657
95	461466	Disease	p.Glu233Asp	VAR_026104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026104	- Aminoacylase-1 deficiency (ACY1D) [MIM:609924]	SWISS	316	pfam01546	4501901,NP_000657
95	461466	Disease	p.Arg353Cys	VAR_026105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026105	- Aminoacylase-1 deficiency (ACY1D) [MIM:609924]	SWISS	620	COG0624	4501901,NP_000657
95	461466	Disease	p.Arg353Cys	VAR_026105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026105	- Aminoacylase-1 deficiency (ACY1D) [MIM:609924]	SWISS	601	pfam01546	4501901,NP_000657
95	461466	Disease	p.Arg393His	VAR_043114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043114	- Aminoacylase-1 deficiency (ACY1D) [MIM:609924]	SWISS	672	COG0624	4501901,NP_000657
95	461466	Disease	p.Arg393His	VAR_043114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043114	- Aminoacylase-1 deficiency (ACY1D) [MIM:609924]	SWISS	663	pfam01546	4501901,NP_000657
100	113339	Disease	p.His15Asp	VAR_002210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002210	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	8	pfam00962	47078295,NP_000013
100	113339	Disease	p.His15Asp	VAR_002210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002210	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	8	cd01320	47078295,NP_000013
100	113339	Disease	p.His15Asp	VAR_002210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002210	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	6	cd01292	47078295,NP_000013
100	113339	Disease	p.His15Asp	VAR_002210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002210	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	17	COG1816	47078295,NP_000013
100	113339	Disease	p.His15Asp	VAR_002210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002210	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	8	cd00443	47078295,NP_000013
100	113339	Disease	p.Gly20Arg	VAR_002211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002211	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	13	pfam00962	47078295,NP_000013
100	113339	Disease	p.Gly20Arg	VAR_002211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002211	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	13	cd01320	47078295,NP_000013
100	113339	Disease	p.Gly20Arg	VAR_002211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002211	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	11	cd01292	47078295,NP_000013
100	113339	Disease	p.Gly20Arg	VAR_002211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002211	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	22	COG1816	47078295,NP_000013
100	113339	Disease	p.Gly20Arg	VAR_002211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002211	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	13	cd00443	47078295,NP_000013
100	113339	Disease	p.Gly74Cys	VAR_002212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002212	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	69	pfam00962	47078295,NP_000013
100	113339	Disease	p.Gly74Cys	VAR_002212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002212	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	73	cd01320	47078295,NP_000013
100	113339	Disease	p.Gly74Cys	VAR_002212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002212	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	137	cd01292	47078295,NP_000013
100	113339	Disease	p.Gly74Cys	VAR_002212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002212	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	93	COG1816	47078295,NP_000013
100	113339	Disease	p.Gly74Cys	VAR_002212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002212	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	128	cd00443	47078295,NP_000013
100	113339	Disease	p.Arg76Trp	VAR_002213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002213	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	162	pfam00962	47078295,NP_000013
100	113339	Disease	p.Arg76Trp	VAR_002213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002213	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	75	cd01320	47078295,NP_000013
100	113339	Disease	p.Arg76Trp	VAR_002213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002213	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	139	cd01292	47078295,NP_000013
100	113339	Disease	p.Arg76Trp	VAR_002213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002213	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	95	COG1816	47078295,NP_000013
100	113339	Disease	p.Arg76Trp	VAR_002213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002213	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	130	cd00443	47078295,NP_000013
100	113339	Disease	p.Ala83Asp	VAR_002215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002215	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	169	pfam00962	47078295,NP_000013
100	113339	Disease	p.Ala83Asp	VAR_002215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002215	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	82	cd01320	47078295,NP_000013
100	113339	Disease	p.Ala83Asp	VAR_002215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002215	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	146	cd01292	47078295,NP_000013
100	113339	Disease	p.Ala83Asp	VAR_002215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002215	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	102	COG1816	47078295,NP_000013
100	113339	Disease	p.Ala83Asp	VAR_002215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002215	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	137	cd00443	47078295,NP_000013
100	113339	Disease	p.Arg101Leu	VAR_002216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002216	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	187	pfam00962	47078295,NP_000013
100	113339	Disease	p.Arg101Leu	VAR_002216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002216	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	100	cd01320	47078295,NP_000013
100	113339	Disease	p.Arg101Leu	VAR_002216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002216	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	171	cd01292	47078295,NP_000013
100	113339	Disease	p.Arg101Leu	VAR_002216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002216	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	120	COG1816	47078295,NP_000013
100	113339	Disease	p.Arg101Leu	VAR_002216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002216	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	164	cd00443	47078295,NP_000013
100	113339	Disease	p.Arg101Gln	VAR_002218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002218	rs28930970 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	187	pfam00962	47078295,NP_000013
100	113339	Disease	p.Arg101Gln	VAR_002218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002218	rs28930970 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	100	cd01320	47078295,NP_000013
100	113339	Disease	p.Arg101Gln	VAR_002218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002218	rs28930970 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	171	cd01292	47078295,NP_000013
100	113339	Disease	p.Arg101Gln	VAR_002218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002218	rs28930970 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	120	COG1816	47078295,NP_000013
100	113339	Disease	p.Arg101Gln	VAR_002218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002218	rs28930970 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	164	cd00443	47078295,NP_000013
100	113339	Disease	p.Arg101Trp	VAR_002217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002217	rs28930969 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	187	pfam00962	47078295,NP_000013
100	113339	Disease	p.Arg101Trp	VAR_002217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002217	rs28930969 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	100	cd01320	47078295,NP_000013
100	113339	Disease	p.Arg101Trp	VAR_002217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002217	rs28930969 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	171	cd01292	47078295,NP_000013
100	113339	Disease	p.Arg101Trp	VAR_002217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002217	rs28930969 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	120	COG1816	47078295,NP_000013
100	113339	Disease	p.Arg101Trp	VAR_002217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002217	rs28930969 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	164	cd00443	47078295,NP_000013
100	113339	Disease	p.Leu107Pro	VAR_002219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002219	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	193	pfam00962	47078295,NP_000013
100	113339	Disease	p.Leu107Pro	VAR_002219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002219	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	106	cd01320	47078295,NP_000013
100	113339	Disease	p.Leu107Pro	VAR_002219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002219	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	177	cd01292	47078295,NP_000013
100	113339	Disease	p.Leu107Pro	VAR_002219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002219	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	126	COG1816	47078295,NP_000013
100	113339	Disease	p.Leu107Pro	VAR_002219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002219	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	170	cd00443	47078295,NP_000013
100	113339	Disease	p.Val129Met	VAR_002220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002220	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	216	pfam00962	47078295,NP_000013
100	113339	Disease	p.Val129Met	VAR_002220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002220	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	128	cd01320	47078295,NP_000013
100	113339	Disease	p.Val129Met	VAR_002220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002220	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	202	cd01292	47078295,NP_000013
100	113339	Disease	p.Val129Met	VAR_002220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002220	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	137	COG1816	47078295,NP_000013
100	113339	Disease	p.Val129Met	VAR_002220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002220	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	192	cd00443	47078295,NP_000013
100	113339	Disease	p.Gly140Glu	VAR_002221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002221	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	227	pfam00962	47078295,NP_000013
100	113339	Disease	p.Gly140Glu	VAR_002221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002221	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	139	cd01320	47078295,NP_000013
100	113339	Disease	p.Gly140Glu	VAR_002221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002221	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	213	cd01292	47078295,NP_000013
100	113339	Disease	p.Gly140Glu	VAR_002221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002221	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	148	COG1816	47078295,NP_000013
100	113339	Disease	p.Gly140Glu	VAR_002221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002221	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	203	cd00443	47078295,NP_000013
100	113339	Disease	p.Arg149Gln	VAR_002223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002223	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	238	pfam00962	47078295,NP_000013
100	113339	Disease	p.Arg149Gln	VAR_002223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002223	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	153	cd01320	47078295,NP_000013
100	113339	Disease	p.Arg149Gln	VAR_002223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002223	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	238	cd01292	47078295,NP_000013
100	113339	Disease	p.Arg149Gln	VAR_002223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002223	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	165	COG1816	47078295,NP_000013
100	113339	Disease	p.Arg149Gln	VAR_002223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002223	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	237	cd00443	47078295,NP_000013
100	113339	Disease	p.Arg149Trp	VAR_002224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002224	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	238	pfam00962	47078295,NP_000013
100	113339	Disease	p.Arg149Trp	VAR_002224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002224	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	153	cd01320	47078295,NP_000013
100	113339	Disease	p.Arg149Trp	VAR_002224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002224	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	238	cd01292	47078295,NP_000013
100	113339	Disease	p.Arg149Trp	VAR_002224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002224	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	165	COG1816	47078295,NP_000013
100	113339	Disease	p.Arg149Trp	VAR_002224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002224	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	237	cd00443	47078295,NP_000013
100	113339	Disease	p.Arg156Cys	VAR_002226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002226	rs28930971 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	245	pfam00962	47078295,NP_000013
100	113339	Disease	p.Arg156Cys	VAR_002226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002226	rs28930971 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	160	cd01320	47078295,NP_000013
100	113339	Disease	p.Arg156Cys	VAR_002226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002226	rs28930971 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	245	cd01292	47078295,NP_000013
100	113339	Disease	p.Arg156Cys	VAR_002226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002226	rs28930971 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	172	COG1816	47078295,NP_000013
100	113339	Disease	p.Arg156Cys	VAR_002226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002226	rs28930971 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	244	cd00443	47078295,NP_000013
100	113339	Disease	p.Arg156His	VAR_002227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002227	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	245	pfam00962	47078295,NP_000013
100	113339	Disease	p.Arg156His	VAR_002227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002227	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	160	cd01320	47078295,NP_000013
100	113339	Disease	p.Arg156His	VAR_002227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002227	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	245	cd01292	47078295,NP_000013
100	113339	Disease	p.Arg156His	VAR_002227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002227	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	172	COG1816	47078295,NP_000013
100	113339	Disease	p.Arg156His	VAR_002227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002227	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	244	cd00443	47078295,NP_000013
100	113339	Disease	p.Val177Met	VAR_002228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002228	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	276	pfam00962	47078295,NP_000013
100	113339	Disease	p.Val177Met	VAR_002228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002228	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	190	cd01320	47078295,NP_000013
100	113339	Disease	p.Val177Met	VAR_002228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002228	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	302	cd01292	47078295,NP_000013
100	113339	Disease	p.Val177Met	VAR_002228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002228	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	194	COG1816	47078295,NP_000013
100	113339	Disease	p.Val177Met	VAR_002228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002228	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	296	cd00443	47078295,NP_000013
100	113339	Disease	p.Ala179Asp	VAR_002229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002229	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	278	pfam00962	47078295,NP_000013
100	113339	Disease	p.Ala179Asp	VAR_002229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002229	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	192	cd01320	47078295,NP_000013
100	113339	Disease	p.Ala179Asp	VAR_002229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002229	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	304	cd01292	47078295,NP_000013
100	113339	Disease	p.Ala179Asp	VAR_002229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002229	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	206	COG1816	47078295,NP_000013
100	113339	Disease	p.Ala179Asp	VAR_002229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002229	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	298	cd00443	47078295,NP_000013
100	113339	Disease	p.Gln199Pro	VAR_002230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002230	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	300	pfam00962	47078295,NP_000013
100	113339	Disease	p.Gln199Pro	VAR_002230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002230	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	212	cd01320	47078295,NP_000013
100	113339	Disease	p.Gln199Pro	VAR_002230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002230	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	341	cd01292	47078295,NP_000013
100	113339	Disease	p.Gln199Pro	VAR_002230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002230	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	223	COG1816	47078295,NP_000013
100	113339	Disease	p.Gln199Pro	VAR_002230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002230	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	337	cd00443	47078295,NP_000013
100	113339	Disease	p.Arg211Cys	VAR_002231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002231	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	312	pfam00962	47078295,NP_000013
100	113339	Disease	p.Arg211Cys	VAR_002231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002231	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	226	cd01320	47078295,NP_000013
100	113339	Disease	p.Arg211Cys	VAR_002231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002231	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	365	cd01292	47078295,NP_000013
100	113339	Disease	p.Arg211Cys	VAR_002231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002231	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	241	COG1816	47078295,NP_000013
100	113339	Disease	p.Arg211Cys	VAR_002231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002231	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	361	cd00443	47078295,NP_000013
100	113339	Disease	p.Arg211His	VAR_002232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002232	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	312	pfam00962	47078295,NP_000013
100	113339	Disease	p.Arg211His	VAR_002232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002232	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	226	cd01320	47078295,NP_000013
100	113339	Disease	p.Arg211His	VAR_002232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002232	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	365	cd01292	47078295,NP_000013
100	113339	Disease	p.Arg211His	VAR_002232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002232	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	241	COG1816	47078295,NP_000013
100	113339	Disease	p.Arg211His	VAR_002232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002232	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	361	cd00443	47078295,NP_000013
100	113339	Disease	p.Ala215Thr	VAR_002233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002233	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	316	pfam00962	47078295,NP_000013
100	113339	Disease	p.Ala215Thr	VAR_002233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002233	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	230	cd01320	47078295,NP_000013
100	113339	Disease	p.Ala215Thr	VAR_002233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002233	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	369	cd01292	47078295,NP_000013
100	113339	Disease	p.Ala215Thr	VAR_002233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002233	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	245	COG1816	47078295,NP_000013
100	113339	Disease	p.Ala215Thr	VAR_002233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002233	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	365	cd00443	47078295,NP_000013
100	113339	Disease	p.Gly216Arg	VAR_002234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002234	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	317	pfam00962	47078295,NP_000013
100	113339	Disease	p.Gly216Arg	VAR_002234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002234	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	231	cd01320	47078295,NP_000013
100	113339	Disease	p.Gly216Arg	VAR_002234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002234	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	370	cd01292	47078295,NP_000013
100	113339	Disease	p.Gly216Arg	VAR_002234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002234	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	246	COG1816	47078295,NP_000013
100	113339	Disease	p.Gly216Arg	VAR_002234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002234	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	366	cd00443	47078295,NP_000013
100	113339	Disease	p.Pro274Leu	VAR_002236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002236	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	390	pfam00962	47078295,NP_000013
100	113339	Disease	p.Pro274Leu	VAR_002236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002236	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	301	cd01320	47078295,NP_000013
100	113339	Disease	p.Pro274Leu	VAR_002236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002236	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	562	cd01292	47078295,NP_000013
100	113339	Disease	p.Pro274Leu	VAR_002236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002236	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	361	COG1816	47078295,NP_000013
100	113339	Disease	p.Pro274Leu	VAR_002236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002236	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	554	cd00443	47078295,NP_000013
100	113339	Disease	p.Ser291Leu	VAR_002237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002237	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	408	pfam00962	47078295,NP_000013
100	113339	Disease	p.Ser291Leu	VAR_002237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002237	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	324	cd01320	47078295,NP_000013
100	113339	Disease	p.Ser291Leu	VAR_002237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002237	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	598	cd01292	47078295,NP_000013
100	113339	Disease	p.Ser291Leu	VAR_002237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002237	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	380	COG1816	47078295,NP_000013
100	113339	Disease	p.Ser291Leu	VAR_002237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002237	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	572	cd00443	47078295,NP_000013
100	113339	Disease	p.Pro297Gln	VAR_002238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002238	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	414	pfam00962	47078295,NP_000013
100	113339	Disease	p.Pro297Gln	VAR_002238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002238	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	330	cd01320	47078295,NP_000013
100	113339	Disease	p.Pro297Gln	VAR_002238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002238	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	604	cd01292	47078295,NP_000013
100	113339	Disease	p.Pro297Gln	VAR_002238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002238	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	386	COG1816	47078295,NP_000013
100	113339	Disease	p.Pro297Gln	VAR_002238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002238	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	578	cd00443	47078295,NP_000013
100	113339	Disease	p.Leu304Arg	VAR_002239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002239	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	424	pfam00962	47078295,NP_000013
100	113339	Disease	p.Leu304Arg	VAR_002239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002239	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	337	cd01320	47078295,NP_000013
100	113339	Disease	p.Leu304Arg	VAR_002239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002239	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	642	cd01292	47078295,NP_000013
100	113339	Disease	p.Leu304Arg	VAR_002239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002239	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	397	COG1816	47078295,NP_000013
100	113339	Disease	p.Leu304Arg	VAR_002239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002239	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	597	cd00443	47078295,NP_000013
100	113339	Disease	p.Ala329Val	VAR_002240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002240	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	454	pfam00962	47078295,NP_000013
100	113339	Disease	p.Ala329Val	VAR_002240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002240	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	363	cd01320	47078295,NP_000013
100	113339	Disease	p.Ala329Val	VAR_002240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002240	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	689	cd01292	47078295,NP_000013
100	113339	Disease	p.Ala329Val	VAR_002240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002240	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	424	COG1816	47078295,NP_000013
100	113339	Disease	p.Ala329Val	VAR_002240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002240	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]	SWISS	627	cd00443	47078295,NP_000013
81794	148887344	Disease	p.Ala25Thr	VAR_054439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054439	- Weill-Marchesani syndrome autosomal recessive (ARWMS) [MIM:277600]	SWISS	31	pfam01562	NULL
11093	74749836	Disease	p.Val88Met	VAR_027110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027110	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	9	cd00203	21265034,NP_620594
11093	74749836	Disease	p.Val88Met	VAR_027110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027110	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	9	pfam01421	21265034,NP_620594
11093	74749836	Disease	p.Val88Met	VAR_027110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027110	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	9	cd04272	21265034,NP_620594
11093	74749836	Disease	p.Val88Met	VAR_027110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027110	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	9	cd04273	21265034,NP_620594
11093	74749836	Disease	p.Val88Met	VAR_027110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027110	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	9	cd04269	21265034,NP_620594
11093	74749836	Disease	p.Val88Met	VAR_027110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027110	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	9	cd04267	21265034,NP_620594
11093	74749836	Disease	p.His96Asp	VAR_027111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027111	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	30	cd00203	21265034,NP_620594
11093	74749836	Disease	p.His96Asp	VAR_027111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027111	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	17	pfam01421	21265034,NP_620594
11093	74749836	Disease	p.His96Asp	VAR_027111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027111	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	17	cd04272	21265034,NP_620594
11093	74749836	Disease	p.His96Asp	VAR_027111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027111	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	25	cd04273	21265034,NP_620594
11093	74749836	Disease	p.His96Asp	VAR_027111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027111	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	28	cd04269	21265034,NP_620594
11093	74749836	Disease	p.His96Asp	VAR_027111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027111	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	21	cd04267	21265034,NP_620594
11093	74749836	Disease	p.Arg102Cys	VAR_027112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027112	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	36	cd00203	21265034,NP_620594
11093	74749836	Disease	p.Arg102Cys	VAR_027112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027112	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	26	pfam01421	21265034,NP_620594
11093	74749836	Disease	p.Arg102Cys	VAR_027112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027112	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	23	cd04272	21265034,NP_620594
11093	74749836	Disease	p.Arg102Cys	VAR_027112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027112	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	31	cd04273	21265034,NP_620594
11093	74749836	Disease	p.Arg102Cys	VAR_027112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027112	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	34	cd04269	21265034,NP_620594
11093	74749836	Disease	p.Arg102Cys	VAR_027112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027112	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	27	cd04267	21265034,NP_620594
11093	74749836	Disease	p.Arg193Trp	VAR_027113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027113	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	153	cd00203	21265034,NP_620594
11093	74749836	Disease	p.Arg193Trp	VAR_027113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027113	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	104	pfam01421	21265034,NP_620594
11093	74749836	Disease	p.Arg193Trp	VAR_027113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027113	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	130	cd04272	21265034,NP_620594
11093	74749836	Disease	p.Arg193Trp	VAR_027113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027113	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	142	cd04273	21265034,NP_620594
11093	74749836	Disease	p.Arg193Trp	VAR_027113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027113	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	140	cd04269	21265034,NP_620594
11093	74749836	Disease	p.Arg193Trp	VAR_027113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027113	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	163	cd04267	21265034,NP_620594
11093	74749836	Disease	p.Thr196Ile	VAR_027114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027114	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	156	cd00203	21265034,NP_620594
11093	74749836	Disease	p.Thr196Ile	VAR_027114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027114	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	107	pfam01421	21265034,NP_620594
11093	74749836	Disease	p.Thr196Ile	VAR_027114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027114	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	133	cd04272	21265034,NP_620594
11093	74749836	Disease	p.Thr196Ile	VAR_027114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027114	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	145	cd04273	21265034,NP_620594
11093	74749836	Disease	p.Thr196Ile	VAR_027114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027114	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	143	cd04269	21265034,NP_620594
11093	74749836	Disease	p.Thr196Ile	VAR_027114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027114	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	166	cd04267	21265034,NP_620594
11093	74749836	Disease	p.His234Gln	VAR_027115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027115	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	260	cd00203	21265034,NP_620594
11093	74749836	Disease	p.His234Gln	VAR_027115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027115	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	149	pfam01421	21265034,NP_620594
11093	74749836	Disease	p.His234Gln	VAR_027115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027115	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	179	cd04272	21265034,NP_620594
11093	74749836	Disease	p.His234Gln	VAR_027115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027115	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	196	cd04273	21265034,NP_620594
11093	74749836	Disease	p.His234Gln	VAR_027115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027115	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	240	cd04269	21265034,NP_620594
11093	74749836	Disease	p.His234Gln	VAR_027115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027115	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	233	cd04267	21265034,NP_620594
11093	74749836	Disease	p.Ala250Val	VAR_027116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027116	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	315_G	cd00203	21265034,NP_620594
11093	74749836	Disease	p.Ala250Val	VAR_027116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027116	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	173	pfam01421	21265034,NP_620594
11093	74749836	Disease	p.Ala250Val	VAR_027116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027116	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	206_G	cd04272	21265034,NP_620594
11093	74749836	Disease	p.Ala250Val	VAR_027116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027116	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	232	cd04273	21265034,NP_620594
11093	74749836	Disease	p.Ala250Val	VAR_027116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027116	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	271	cd04269	21265034,NP_620594
11093	74749836	Disease	p.Ala250Val	VAR_027116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027116	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	286	cd04267	21265034,NP_620594
11093	74749836	Disease	p.Arg268Pro	VAR_027117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027117	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	356	cd00203	21265034,NP_620594
11093	74749836	Disease	p.Arg268Pro	VAR_027117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027117	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	197	pfam01421	21265034,NP_620594
11093	74749836	Disease	p.Arg268Pro	VAR_027117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027117	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	224	cd04272	21265034,NP_620594
11093	74749836	Disease	p.Arg268Pro	VAR_027117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027117	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	252	cd04273	21265034,NP_620594
11093	74749836	Disease	p.Arg268Pro	VAR_027117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027117	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	306	cd04269	21265034,NP_620594
11093	74749836	Disease	p.Arg268Pro	VAR_027117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027117	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	310	cd04267	21265034,NP_620594
11093	74749836	Disease	p.Trp390Cys	VAR_027118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027118	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	4	smart00209	21265034,NP_620594
11093	74749836	Disease	p.Trp390Cys	VAR_027118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027118	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	3	pfam00090	21265034,NP_620594
11093	74749836	Disease	p.Arg398His	VAR_027119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027119	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	18	smart00209	21265034,NP_620594
11093	74749836	Disease	p.Arg398His	VAR_027119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027119	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	11	pfam00090	21265034,NP_620594
11093	74749836	Disease	p.Cys508Tyr	VAR_027122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027122	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	No Domain	N/A	21265034,NP_620594
11093	74749836	Disease	p.Arg528Gly	VAR_027123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027123	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	No Domain	N/A	21265034,NP_620594
11093	74749836	Disease	p.Ile673Phe	VAR_027126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027126	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	No Domain	N/A	21265034,NP_620594
11093	74749836	Disease	p.Arg692Cys	VAR_027127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027127	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	No Domain	N/A	21265034,NP_620594
11093	74749836	Disease	p.Cys908Tyr	VAR_027131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027131	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	No Domain	N/A	21265034,NP_620594
11093	74749836	Disease	p.Cys951Gly	VAR_027132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027132	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	No Domain	N/A	21265034,NP_620594
11093	74749836	Disease	p.Cys1024Gly	VAR_027133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027133	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	No Domain	N/A	21265034,NP_620594
11093	74749836	Disease	p.Arg1123Cys	VAR_027136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027136	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	No Domain	N/A	21265034,NP_620594
11093	74749836	Disease	p.Cys1213Tyr	VAR_027137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027137	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	No Domain	N/A	21265034,NP_620594
11093	74749836	Disease	p.Gly1239Val	VAR_027138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027138	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	No Domain	N/A	21265034,NP_620594
11093	74749836	Disease	p.Arg1336Trp	VAR_027139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027139	- Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]	SWISS	No Domain	N/A	21265034,NP_620594
9719	74750384	Disease	p.Arg113His	VAR_054874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054874	- Geleophysic dysplasia [MIM:231050]	SWISS	No Domain	N/A	41281450,NP_055509|223718260,NP_001138792
9719	74750384	Disease	p.Glu114Lys	VAR_054875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054875	- Geleophysic dysplasia [MIM:231050]	SWISS	No Domain	N/A	41281450,NP_055509|223718260,NP_001138792
9719	74750384	Disease	p.Pro147Leu	VAR_054876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054876	- Geleophysic dysplasia [MIM:231050]	SWISS	No Domain	N/A	41281450,NP_055509|223718260,NP_001138792
9719	74750384	Disease	p.Gly811Arg	VAR_054877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054877	- Geleophysic dysplasia [MIM:231050]	SWISS	No Domain	N/A	41281450,NP_055509|223718260,NP_001138792
103	218512096	Disease	p.Leu923Pro	VAR_017604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017604	rs28936680 Dyschromatosis symmetrical hereditaria (DSH) [MIM:127400]	SWISS	No Domain	N/A	70166852,NP_001102
103	218512096	Disease	p.Cys966Phe	VAR_021729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021729	- Dyschromatosis symmetrical hereditaria (DSH) [MIM:127400]	SWISS	No Domain	N/A	70166852,NP_001102
103	218512096	Disease	p.Arg1155Trp	VAR_026669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026669	- Dyschromatosis symmetrical hereditaria (DSH) [MIM:127400]	SWISS	No Domain	N/A	70166852,NP_001102
103	218512096	Disease	p.Phe1165Ser	VAR_017605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017605	rs28936681 Dyschromatosis symmetrical hereditaria (DSH) [MIM:127400]	SWISS	No Domain	N/A	70166852,NP_001102
9370	2493789	Disease	p.Arg112Cys	VAR_013274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013274	- Adiponectin deficiency (ADPND) [MIM:612556]	SWISS	7	smart00110	295317372,NP_001171271|4757760,NP_004788
158	6686318	Disease	p.Ala2Val	VAR_016930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016930	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	No Domain	N/A	4557269,NP_000017
158	6686318	Disease	p.Ala3Val	VAR_017078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017078	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	No Domain	N/A	4557269,NP_000017
158	6686318	Disease	p.Met26Leu	VAR_016931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016931	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	16	COG0015	4557269,NP_000017
158	6686318	Disease	p.Met26Leu	VAR_016931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016931	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	11	cd03302	4557269,NP_000017
158	6686318	Disease	p.Met26Leu	VAR_016931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016931	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	7	cd01360	4557269,NP_000017
158	6686318	Disease	p.Met26Leu	VAR_016931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016931	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	14	cd01597	4557269,NP_000017
158	6686318	Disease	p.Met26Leu	VAR_016931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016931	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	10	pfam00206	4557269,NP_000017
158	6686318	Disease	p.Ile72Val	VAR_007972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007972	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	52	cd01594	4557269,NP_000017
158	6686318	Disease	p.Ile72Val	VAR_007972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007972	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	49	cd01334	4557269,NP_000017
158	6686318	Disease	p.Ile72Val	VAR_007972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007972	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	68	cd01595	4557269,NP_000017
158	6686318	Disease	p.Ile72Val	VAR_007972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007972	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	72	COG0015	4557269,NP_000017
158	6686318	Disease	p.Ile72Val	VAR_007972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007972	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	61	cd03302	4557269,NP_000017
158	6686318	Disease	p.Ile72Val	VAR_007972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007972	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	62	cd01360	4557269,NP_000017
158	6686318	Disease	p.Ile72Val	VAR_007972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007972	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	63	cd01597	4557269,NP_000017
158	6686318	Disease	p.Ile72Val	VAR_007972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007972	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	77	pfam00206	4557269,NP_000017
158	6686318	Disease	p.Ile72Val	VAR_007972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007972	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	59	cd01598	4557269,NP_000017
158	6686318	Disease	p.Pro100Ala	VAR_017079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017079	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	80	cd01594	4557269,NP_000017
158	6686318	Disease	p.Pro100Ala	VAR_017079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017079	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	87	cd01334	4557269,NP_000017
158	6686318	Disease	p.Pro100Ala	VAR_017079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017079	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	103	cd01595	4557269,NP_000017
158	6686318	Disease	p.Pro100Ala	VAR_017079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017079	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	107	COG0015	4557269,NP_000017
158	6686318	Disease	p.Pro100Ala	VAR_017079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017079	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	89	cd03302	4557269,NP_000017
158	6686318	Disease	p.Pro100Ala	VAR_017079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017079	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	90	cd01360	4557269,NP_000017
158	6686318	Disease	p.Pro100Ala	VAR_017079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017079	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	91	cd01597	4557269,NP_000017
158	6686318	Disease	p.Pro100Ala	VAR_017079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017079	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	126_G	pfam00206	4557269,NP_000017
158	6686318	Disease	p.Pro100Ala	VAR_017079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017079	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	109	cd01598	4557269,NP_000017
158	6686318	Disease	p.Tyr114His	VAR_017080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017080	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	160	cd01594	4557269,NP_000017
158	6686318	Disease	p.Tyr114His	VAR_017080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017080	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	116	cd01334	4557269,NP_000017
158	6686318	Disease	p.Tyr114His	VAR_017080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017080	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	128	cd01595	4557269,NP_000017
158	6686318	Disease	p.Tyr114His	VAR_017080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017080	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	127	COG0015	4557269,NP_000017
158	6686318	Disease	p.Tyr114His	VAR_017080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017080	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	104	cd03302	4557269,NP_000017
158	6686318	Disease	p.Tyr114His	VAR_017080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017080	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	109	cd01360	4557269,NP_000017
158	6686318	Disease	p.Tyr114His	VAR_017080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017080	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	112	cd01597	4557269,NP_000017
158	6686318	Disease	p.Tyr114His	VAR_017080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017080	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	134	pfam00206	4557269,NP_000017
158	6686318	Disease	p.Tyr114His	VAR_017080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017080	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	129	cd01598	4557269,NP_000017
158	6686318	Disease	p.Arg141Trp	VAR_007973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007973	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	188	cd01594	4557269,NP_000017
158	6686318	Disease	p.Arg141Trp	VAR_007973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007973	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	144	cd01334	4557269,NP_000017
158	6686318	Disease	p.Arg141Trp	VAR_007973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007973	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	156	cd01595	4557269,NP_000017
158	6686318	Disease	p.Arg141Trp	VAR_007973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007973	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	155	COG0015	4557269,NP_000017
158	6686318	Disease	p.Arg141Trp	VAR_007973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007973	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	131	cd03302	4557269,NP_000017
158	6686318	Disease	p.Arg141Trp	VAR_007973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007973	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	136	cd01360	4557269,NP_000017
158	6686318	Disease	p.Arg141Trp	VAR_007973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007973	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	139	cd01597	4557269,NP_000017
158	6686318	Disease	p.Arg141Trp	VAR_007973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007973	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	162	pfam00206	4557269,NP_000017
158	6686318	Disease	p.Arg141Trp	VAR_007973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007973	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	151	cd01598	4557269,NP_000017
158	6686318	Disease	p.Arg190Gln	VAR_007974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007974	rs28941471 Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	313	cd01594	4557269,NP_000017
158	6686318	Disease	p.Arg190Gln	VAR_007974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007974	rs28941471 Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	195	cd01334	4557269,NP_000017
158	6686318	Disease	p.Arg190Gln	VAR_007974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007974	rs28941471 Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	206	cd01595	4557269,NP_000017
158	6686318	Disease	p.Arg190Gln	VAR_007974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007974	rs28941471 Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	204	COG0015	4557269,NP_000017
158	6686318	Disease	p.Arg190Gln	VAR_007974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007974	rs28941471 Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	180	cd03302	4557269,NP_000017
158	6686318	Disease	p.Arg190Gln	VAR_007974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007974	rs28941471 Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	185	cd01360	4557269,NP_000017
158	6686318	Disease	p.Arg190Gln	VAR_007974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007974	rs28941471 Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	188	cd01597	4557269,NP_000017
158	6686318	Disease	p.Arg190Gln	VAR_007974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007974	rs28941471 Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	211	pfam00206	4557269,NP_000017
158	6686318	Disease	p.Arg190Gln	VAR_007974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007974	rs28941471 Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	201	cd01598	4557269,NP_000017
158	6686318	Disease	p.Arg194Cys	VAR_017081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017081	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	317	cd01594	4557269,NP_000017
158	6686318	Disease	p.Arg194Cys	VAR_017081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017081	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	201	cd01334	4557269,NP_000017
158	6686318	Disease	p.Arg194Cys	VAR_017081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017081	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	212	cd01595	4557269,NP_000017
158	6686318	Disease	p.Arg194Cys	VAR_017081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017081	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	209	COG0015	4557269,NP_000017
158	6686318	Disease	p.Arg194Cys	VAR_017081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017081	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	185	cd03302	4557269,NP_000017
158	6686318	Disease	p.Arg194Cys	VAR_017081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017081	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	189	cd01360	4557269,NP_000017
158	6686318	Disease	p.Arg194Cys	VAR_017081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017081	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	193	cd01597	4557269,NP_000017
158	6686318	Disease	p.Arg194Cys	VAR_017081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017081	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	215	pfam00206	4557269,NP_000017
158	6686318	Disease	p.Arg194Cys	VAR_017081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017081	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	202_G	cd01598	4557269,NP_000017
158	6686318	Disease	p.Lys246Glu	VAR_007975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007975	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	377	cd01594	4557269,NP_000017
158	6686318	Disease	p.Lys246Glu	VAR_007975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007975	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	263	cd01334	4557269,NP_000017
158	6686318	Disease	p.Lys246Glu	VAR_007975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007975	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	265	cd01595	4557269,NP_000017
158	6686318	Disease	p.Lys246Glu	VAR_007975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007975	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	265	COG0015	4557269,NP_000017
158	6686318	Disease	p.Lys246Glu	VAR_007975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007975	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	237	cd03302	4557269,NP_000017
158	6686318	Disease	p.Lys246Glu	VAR_007975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007975	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	234	cd01360	4557269,NP_000017
158	6686318	Disease	p.Lys246Glu	VAR_007975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007975	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	245	cd01597	4557269,NP_000017
158	6686318	Disease	p.Lys246Glu	VAR_007975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007975	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	268	pfam00206	4557269,NP_000017
158	6686318	Disease	p.Lys246Glu	VAR_007975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007975	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	251	cd01598	4557269,NP_000017
158	6686318	Disease	p.Asp268Asn	VAR_017082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017082	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	399	cd01594	4557269,NP_000017
158	6686318	Disease	p.Asp268Asn	VAR_017082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017082	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	285	cd01334	4557269,NP_000017
158	6686318	Disease	p.Asp268Asn	VAR_017082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017082	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	287	cd01595	4557269,NP_000017
158	6686318	Disease	p.Asp268Asn	VAR_017082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017082	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	287	COG0015	4557269,NP_000017
158	6686318	Disease	p.Asp268Asn	VAR_017082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017082	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	259	cd03302	4557269,NP_000017
158	6686318	Disease	p.Asp268Asn	VAR_017082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017082	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	256	cd01360	4557269,NP_000017
158	6686318	Disease	p.Asp268Asn	VAR_017082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017082	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	265	cd01597	4557269,NP_000017
158	6686318	Disease	p.Asp268Asn	VAR_017082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017082	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	290	pfam00206	4557269,NP_000017
158	6686318	Disease	p.Asp268Asn	VAR_017082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017082	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	278	cd01598	4557269,NP_000017
158	6686318	Disease	p.Arg303Cys	VAR_007976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007976	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	444	cd01594	4557269,NP_000017
158	6686318	Disease	p.Arg303Cys	VAR_007976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007976	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	326	cd01334	4557269,NP_000017
158	6686318	Disease	p.Arg303Cys	VAR_007976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007976	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	325	cd01595	4557269,NP_000017
158	6686318	Disease	p.Arg303Cys	VAR_007976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007976	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	325	COG0015	4557269,NP_000017
158	6686318	Disease	p.Arg303Cys	VAR_007976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007976	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	296	cd03302	4557269,NP_000017
158	6686318	Disease	p.Arg303Cys	VAR_007976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007976	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	294	cd01360	4557269,NP_000017
158	6686318	Disease	p.Arg303Cys	VAR_007976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007976	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	302	cd01597	4557269,NP_000017
158	6686318	Disease	p.Arg303Cys	VAR_007976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007976	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	330	pfam00206	4557269,NP_000017
158	6686318	Disease	p.Arg303Cys	VAR_007976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007976	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	320	cd01598	4557269,NP_000017
158	6686318	Disease	p.Leu311Val	VAR_017083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017083	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	452	cd01594	4557269,NP_000017
158	6686318	Disease	p.Leu311Val	VAR_017083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017083	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	334	cd01334	4557269,NP_000017
158	6686318	Disease	p.Leu311Val	VAR_017083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017083	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	333	cd01595	4557269,NP_000017
158	6686318	Disease	p.Leu311Val	VAR_017083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017083	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	333	COG0015	4557269,NP_000017
158	6686318	Disease	p.Leu311Val	VAR_017083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017083	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	304	cd03302	4557269,NP_000017
158	6686318	Disease	p.Leu311Val	VAR_017083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017083	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	302	cd01360	4557269,NP_000017
158	6686318	Disease	p.Leu311Val	VAR_017083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017083	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	313	cd01597	4557269,NP_000017
158	6686318	Disease	p.Leu311Val	VAR_017083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017083	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	340	pfam00206	4557269,NP_000017
158	6686318	Disease	p.Leu311Val	VAR_017083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017083	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	328	cd01598	4557269,NP_000017
158	6686318	Disease	p.Pro318Leu	VAR_017084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017084	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	459	cd01594	4557269,NP_000017
158	6686318	Disease	p.Pro318Leu	VAR_017084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017084	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	341	cd01334	4557269,NP_000017
158	6686318	Disease	p.Pro318Leu	VAR_017084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017084	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	340	cd01595	4557269,NP_000017
158	6686318	Disease	p.Pro318Leu	VAR_017084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017084	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	340	COG0015	4557269,NP_000017
158	6686318	Disease	p.Pro318Leu	VAR_017084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017084	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	311	cd03302	4557269,NP_000017
158	6686318	Disease	p.Pro318Leu	VAR_017084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017084	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	308	cd01360	4557269,NP_000017
158	6686318	Disease	p.Pro318Leu	VAR_017084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017084	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	319_G	cd01597	4557269,NP_000017
158	6686318	Disease	p.Pro318Leu	VAR_017084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017084	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	336	cd01598	4557269,NP_000017
158	6686318	Disease	p.Val364Met	VAR_017085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017085	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	390	cd01334	4557269,NP_000017
158	6686318	Disease	p.Val364Met	VAR_017085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017085	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	387	cd01595	4557269,NP_000017
158	6686318	Disease	p.Val364Met	VAR_017085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017085	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	387	COG0015	4557269,NP_000017
158	6686318	Disease	p.Val364Met	VAR_017085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017085	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	357	cd03302	4557269,NP_000017
158	6686318	Disease	p.Val364Met	VAR_017085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017085	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	354	cd01360	4557269,NP_000017
158	6686318	Disease	p.Val364Met	VAR_017085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017085	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	364	cd01597	4557269,NP_000017
158	6686318	Disease	p.Arg374Trp	VAR_017086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017086	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	397	cd01595	4557269,NP_000017
158	6686318	Disease	p.Arg374Trp	VAR_017086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017086	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	397	COG0015	4557269,NP_000017
158	6686318	Disease	p.Arg374Trp	VAR_017086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017086	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	367	cd03302	4557269,NP_000017
158	6686318	Disease	p.Arg374Trp	VAR_017086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017086	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	364	cd01360	4557269,NP_000017
158	6686318	Disease	p.Arg374Trp	VAR_017086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017086	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	374	cd01597	4557269,NP_000017
158	6686318	Disease	p.Ser395Arg	VAR_007977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007977	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	428	cd01595	4557269,NP_000017
158	6686318	Disease	p.Ser395Arg	VAR_007977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007977	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	419	COG0015	4557269,NP_000017
158	6686318	Disease	p.Ser395Arg	VAR_007977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007977	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	389	cd03302	4557269,NP_000017
158	6686318	Disease	p.Ser395Arg	VAR_007977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007977	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	21	pfam10397	4557269,NP_000017
158	6686318	Disease	p.Ser395Arg	VAR_007977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007977	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	387	cd01360	4557269,NP_000017
158	6686318	Disease	p.Ser395Arg	VAR_007977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007977	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	401	cd01597	4557269,NP_000017
158	6686318	Disease	p.Arg396Cys	VAR_017087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017087	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	429	cd01595	4557269,NP_000017
158	6686318	Disease	p.Arg396Cys	VAR_017087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017087	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	420	COG0015	4557269,NP_000017
158	6686318	Disease	p.Arg396Cys	VAR_017087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017087	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	390	cd03302	4557269,NP_000017
158	6686318	Disease	p.Arg396Cys	VAR_017087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017087	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	22	pfam10397	4557269,NP_000017
158	6686318	Disease	p.Arg396Cys	VAR_017087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017087	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	388	cd01360	4557269,NP_000017
158	6686318	Disease	p.Arg396Cys	VAR_017087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017087	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	402	cd01597	4557269,NP_000017
158	6686318	Disease	p.Arg396His	VAR_017088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017088	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	429	cd01595	4557269,NP_000017
158	6686318	Disease	p.Arg396His	VAR_017088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017088	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	420	COG0015	4557269,NP_000017
158	6686318	Disease	p.Arg396His	VAR_017088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017088	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	390	cd03302	4557269,NP_000017
158	6686318	Disease	p.Arg396His	VAR_017088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017088	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	22	pfam10397	4557269,NP_000017
158	6686318	Disease	p.Arg396His	VAR_017088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017088	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	388	cd01360	4557269,NP_000017
158	6686318	Disease	p.Arg396His	VAR_017088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017088	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	402	cd01597	4557269,NP_000017
158	6686318	Disease	p.Asp422Tyr	VAR_017089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017089	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	455	cd01595	4557269,NP_000017
158	6686318	Disease	p.Asp422Tyr	VAR_017089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017089	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	453	COG0015	4557269,NP_000017
158	6686318	Disease	p.Asp422Tyr	VAR_017089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017089	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	417	cd03302	4557269,NP_000017
158	6686318	Disease	p.Asp422Tyr	VAR_017089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017089	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	60	pfam10397	4557269,NP_000017
158	6686318	Disease	p.Asp422Tyr	VAR_017089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017089	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	412	cd01360	4557269,NP_000017
158	6686318	Disease	p.Asp422Tyr	VAR_017089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017089	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	426	cd01597	4557269,NP_000017
158	6686318	Disease	p.Leu423Val	VAR_017090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017090	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	456	cd01595	4557269,NP_000017
158	6686318	Disease	p.Leu423Val	VAR_017090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017090	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	454	COG0015	4557269,NP_000017
158	6686318	Disease	p.Leu423Val	VAR_017090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017090	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	418	cd03302	4557269,NP_000017
158	6686318	Disease	p.Leu423Val	VAR_017090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017090	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	70	pfam10397	4557269,NP_000017
158	6686318	Disease	p.Leu423Val	VAR_017090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017090	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	413	cd01360	4557269,NP_000017
158	6686318	Disease	p.Leu423Val	VAR_017090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017090	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	427	cd01597	4557269,NP_000017
158	6686318	Disease	p.Arg426His	VAR_007978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007978	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	459	cd01595	4557269,NP_000017
158	6686318	Disease	p.Arg426His	VAR_007978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007978	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	457	COG0015	4557269,NP_000017
158	6686318	Disease	p.Arg426His	VAR_007978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007978	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	421	cd03302	4557269,NP_000017
158	6686318	Disease	p.Arg426His	VAR_007978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007978	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	77	pfam10397	4557269,NP_000017
158	6686318	Disease	p.Arg426His	VAR_007978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007978	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	416	cd01360	4557269,NP_000017
158	6686318	Disease	p.Arg426His	VAR_007978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007978	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	430	cd01597	4557269,NP_000017
158	6686318	Disease	p.Asp430Asn	VAR_017091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017091	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	469	cd01595	4557269,NP_000017
158	6686318	Disease	p.Asp430Asn	VAR_017091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017091	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	461	COG0015	4557269,NP_000017
158	6686318	Disease	p.Asp430Asn	VAR_017091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017091	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	425	cd03302	4557269,NP_000017
158	6686318	Disease	p.Asp430Asn	VAR_017091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017091	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	84	pfam10397	4557269,NP_000017
158	6686318	Disease	p.Asp430Asn	VAR_017091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017091	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	430	cd01360	4557269,NP_000017
158	6686318	Disease	p.Asp430Asn	VAR_017091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017091	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	438	cd01597	4557269,NP_000017
158	6686318	Disease	p.Ser438Pro	VAR_000680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000680	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	477	cd01595	4557269,NP_000017
158	6686318	Disease	p.Ser438Pro	VAR_000680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000680	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	469	COG0015	4557269,NP_000017
158	6686318	Disease	p.Ser438Pro	VAR_000680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000680	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	433	cd03302	4557269,NP_000017
158	6686318	Disease	p.Ser438Pro	VAR_000680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000680	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	96	pfam10397	4557269,NP_000017
158	6686318	Disease	p.Ser438Pro	VAR_000680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000680	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	436	cd01360	4557269,NP_000017
158	6686318	Disease	p.Ser438Pro	VAR_000680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000680	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	447	cd01597	4557269,NP_000017
158	6686318	Disease	p.Ser447Pro	VAR_017092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017092	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	486	cd01595	4557269,NP_000017
158	6686318	Disease	p.Ser447Pro	VAR_017092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017092	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	479	COG0015	4557269,NP_000017
158	6686318	Disease	p.Ser447Pro	VAR_017092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017092	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	446	cd03302	4557269,NP_000017
158	6686318	Disease	p.Ser447Pro	VAR_017092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017092	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	116	pfam10397	4557269,NP_000017
158	6686318	Disease	p.Ser447Pro	VAR_017092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017092	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	445	cd01360	4557269,NP_000017
158	6686318	Disease	p.Ser447Pro	VAR_017092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017092	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	456	cd01597	4557269,NP_000017
158	6686318	Disease	p.Thr450Ser	VAR_016932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016932	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	489	cd01595	4557269,NP_000017
158	6686318	Disease	p.Thr450Ser	VAR_016932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016932	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	482	COG0015	4557269,NP_000017
158	6686318	Disease	p.Thr450Ser	VAR_016932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016932	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	449	cd03302	4557269,NP_000017
158	6686318	Disease	p.Thr450Ser	VAR_016932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016932	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	119	pfam10397	4557269,NP_000017
158	6686318	Disease	p.Thr450Ser	VAR_016932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016932	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	448	cd01360	4557269,NP_000017
158	6686318	Disease	p.Thr450Ser	VAR_016932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016932	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	459	cd01597	4557269,NP_000017
158	6686318	Disease	p.Arg452Pro	VAR_017093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017093	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	484	COG0015	4557269,NP_000017
158	6686318	Disease	p.Arg452Pro	VAR_017093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017093	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	121	pfam10397	4557269,NP_000017
158	6686318	Disease	p.Arg452Pro	VAR_017093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017093	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	450	cd01360	4557269,NP_000017
158	6686318	Disease	p.Arg452Pro	VAR_017093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017093	- Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]	SWISS	461	cd01597	4557269,NP_000017
10939	126302516	Disease	p.Asn432Thr	VAR_063544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063544	- Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]	SWISS	395	COG0465	300192933,NP_006787
10939	126302516	Disease	p.Asn432Thr	VAR_063544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063544	- Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]	SWISS	408	cd00009	300192933,NP_006787
10939	126302516	Disease	p.Asn432Thr	VAR_063544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063544	- Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]	SWISS	995	COG0464	300192933,NP_006787
10939	126302516	Disease	p.Asn432Thr	VAR_063544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063544	- Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]	SWISS	249	COG1223	300192933,NP_006787
10939	126302516	Disease	p.Asn432Thr	VAR_063544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063544	- Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]	SWISS	170	pfam00004	300192933,NP_006787
10939	126302516	Disease	p.Asn432Thr	VAR_063544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063544	- Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]	SWISS	325	COG1222	300192933,NP_006787
10939	126302516	Disease	p.Asn432Thr	VAR_063544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063544	- Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]	SWISS	361	smart00382	300192933,NP_006787
10939	126302516	Disease	p.Asn432Thr	VAR_063544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063544	- Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]	SWISS	146	pfam07724	300192933,NP_006787
10939	126302516	Disease	p.Asn432Thr	VAR_063544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063544	- Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]	SWISS	119	pfam07728	300192933,NP_006787
10939	126302516	Disease	p.Glu691Lys	VAR_063545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063545	- Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]	SWISS	683	COG0465	300192933,NP_006787
10939	126302516	Disease	p.Glu691Lys	VAR_063545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063545	- Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]	SWISS	144	pfam01434	300192933,NP_006787
10939	126302516	Disease	p.Ala694Glu	VAR_063546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063546	- Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]	SWISS	686	COG0465	300192933,NP_006787
10939	126302516	Disease	p.Ala694Glu	VAR_063546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063546	- Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]	SWISS	147	pfam01434	300192933,NP_006787
10939	126302516	Disease	p.Arg702Gln	VAR_063547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063547	- Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]	SWISS	694	COG0465	300192933,NP_006787
10939	126302516	Disease	p.Arg702Gln	VAR_063547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063547	- Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]	SWISS	155	pfam01434	300192933,NP_006787
175	288558804	Disease	p.Val12Leu	VAR_015427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015427	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	2	COG1446	285002251,NP_000018
175	288558804	Disease	p.Gly60Asp	VAR_005069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005069	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	55	cd04514	285002251,NP_000018
175	288558804	Disease	p.Gly60Asp	VAR_005069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005069	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	37	pfam01112	285002251,NP_000018
175	288558804	Disease	p.Gly60Asp	VAR_005069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005069	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	55	cd04702	285002251,NP_000018
175	288558804	Disease	p.Gly60Asp	VAR_005069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005069	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	68	cd04701	285002251,NP_000018
175	288558804	Disease	p.Gly60Asp	VAR_005069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005069	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	56	COG1446	285002251,NP_000018
175	288558804	Disease	p.Gly60Asp	VAR_005069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005069	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	48	cd04703	285002251,NP_000018
175	288558804	Disease	p.Gly60Asp	VAR_005069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005069	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	41	cd04513	285002251,NP_000018
175	288558804	Disease	p.Gly60Asp	VAR_005069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005069	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	52	cd04512	285002251,NP_000018
175	288558804	Disease	p.Ser72Pro	VAR_005070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005070	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	64	cd04514	285002251,NP_000018
175	288558804	Disease	p.Ser72Pro	VAR_005070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005070	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	49	pfam01112	285002251,NP_000018
175	288558804	Disease	p.Ser72Pro	VAR_005070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005070	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	67	cd04702	285002251,NP_000018
175	288558804	Disease	p.Ser72Pro	VAR_005070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005070	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	76	cd04701	285002251,NP_000018
175	288558804	Disease	p.Ser72Pro	VAR_005070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005070	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	68	COG1446	285002251,NP_000018
175	288558804	Disease	p.Ser72Pro	VAR_005070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005070	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	60	cd04703	285002251,NP_000018
175	288558804	Disease	p.Ser72Pro	VAR_005070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005070	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	55	cd04513	285002251,NP_000018
175	288558804	Disease	p.Ser72Pro	VAR_005070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005070	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	64	cd04512	285002251,NP_000018
175	288558804	Disease	p.Gly100Glu	VAR_015428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015428	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	94	cd04514	285002251,NP_000018
175	288558804	Disease	p.Gly100Glu	VAR_015428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015428	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	77	pfam01112	285002251,NP_000018
175	288558804	Disease	p.Gly100Glu	VAR_015428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015428	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	94	cd04702	285002251,NP_000018
175	288558804	Disease	p.Gly100Glu	VAR_015428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015428	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	131	cd04701	285002251,NP_000018
175	288558804	Disease	p.Gly100Glu	VAR_015428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015428	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	97	COG1446	285002251,NP_000018
175	288558804	Disease	p.Gly100Glu	VAR_015428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015428	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	88	cd04703	285002251,NP_000018
175	288558804	Disease	p.Gly100Glu	VAR_015428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015428	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	83	cd04513	285002251,NP_000018
175	288558804	Disease	p.Gly100Glu	VAR_015428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015428	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	92	cd04512	285002251,NP_000018
175	288558804	Disease	p.Ala101Val	VAR_005071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005071	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	95	cd04514	285002251,NP_000018
175	288558804	Disease	p.Ala101Val	VAR_005071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005071	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	78	pfam01112	285002251,NP_000018
175	288558804	Disease	p.Ala101Val	VAR_005071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005071	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	95	cd04702	285002251,NP_000018
175	288558804	Disease	p.Ala101Val	VAR_005071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005071	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	132	cd04701	285002251,NP_000018
175	288558804	Disease	p.Ala101Val	VAR_005071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005071	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	98	COG1446	285002251,NP_000018
175	288558804	Disease	p.Ala101Val	VAR_005071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005071	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	89	cd04703	285002251,NP_000018
175	288558804	Disease	p.Ala101Val	VAR_005071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005071	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	84	cd04513	285002251,NP_000018
175	288558804	Disease	p.Ala101Val	VAR_005071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005071	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	93	cd04512	285002251,NP_000018
175	288558804	Disease	p.Phe135Ser	VAR_015429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015429	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	182	cd04514	285002251,NP_000018
175	288558804	Disease	p.Phe135Ser	VAR_015429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015429	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	112	pfam01112	285002251,NP_000018
175	288558804	Disease	p.Phe135Ser	VAR_015429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015429	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	129	cd04702	285002251,NP_000018
175	288558804	Disease	p.Phe135Ser	VAR_015429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015429	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	192	cd04701	285002251,NP_000018
175	288558804	Disease	p.Phe135Ser	VAR_015429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015429	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	132	COG1446	285002251,NP_000018
175	288558804	Disease	p.Phe135Ser	VAR_015429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015429	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	125	cd04703	285002251,NP_000018
175	288558804	Disease	p.Phe135Ser	VAR_015429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015429	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	118	cd04513	285002251,NP_000018
175	288558804	Disease	p.Phe135Ser	VAR_015429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015429	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	137	cd04512	285002251,NP_000018
175	288558804	Disease	p.Arg161Gln	VAR_005072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005072	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	380	cd04514	285002251,NP_000018
175	288558804	Disease	p.Arg161Gln	VAR_005072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005072	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	138	pfam01112	285002251,NP_000018
175	288558804	Disease	p.Arg161Gln	VAR_005072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005072	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	161	cd04702	285002251,NP_000018
175	288558804	Disease	p.Arg161Gln	VAR_005072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005072	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	243	cd04701	285002251,NP_000018
175	288558804	Disease	p.Arg161Gln	VAR_005072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005072	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	157	COG1446	285002251,NP_000018
175	288558804	Disease	p.Arg161Gln	VAR_005072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005072	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	154	cd04703	285002251,NP_000018
175	288558804	Disease	p.Arg161Gln	VAR_005072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005072	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	148	cd04513	285002251,NP_000018
175	288558804	Disease	p.Arg161Gln	VAR_005072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005072	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	165	cd04512	285002251,NP_000018
175	288558804	Disease	p.Cys163Ser	VAR_005073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005073	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	382	cd04514	285002251,NP_000018
175	288558804	Disease	p.Cys163Ser	VAR_005073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005073	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	140	pfam01112	285002251,NP_000018
175	288558804	Disease	p.Cys163Ser	VAR_005073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005073	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	163	cd04702	285002251,NP_000018
175	288558804	Disease	p.Cys163Ser	VAR_005073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005073	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	245	cd04701	285002251,NP_000018
175	288558804	Disease	p.Cys163Ser	VAR_005073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005073	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	159	COG1446	285002251,NP_000018
175	288558804	Disease	p.Cys163Ser	VAR_005073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005073	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	157	cd04703	285002251,NP_000018
175	288558804	Disease	p.Cys163Ser	VAR_005073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005073	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	150	cd04513	285002251,NP_000018
175	288558804	Disease	p.Cys163Ser	VAR_005073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005073	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	167	cd04512	285002251,NP_000018
175	288558804	Disease	p.Gly252Glu	VAR_015430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015430	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	482	cd04514	285002251,NP_000018
175	288558804	Disease	p.Gly252Glu	VAR_015430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015430	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	238	pfam01112	285002251,NP_000018
175	288558804	Disease	p.Gly252Glu	VAR_015430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015430	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	233	cd04702	285002251,NP_000018
175	288558804	Disease	p.Gly252Glu	VAR_015430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015430	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	428	cd04701	285002251,NP_000018
175	288558804	Disease	p.Gly252Glu	VAR_015430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015430	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	244	COG1446	285002251,NP_000018
175	288558804	Disease	p.Gly252Glu	VAR_015430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015430	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	232	cd04703	285002251,NP_000018
175	288558804	Disease	p.Gly252Glu	VAR_015430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015430	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	266	cd04513	285002251,NP_000018
175	288558804	Disease	p.Gly252Glu	VAR_015430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015430	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	252	cd04512	285002251,NP_000018
175	288558804	Disease	p.Gly252Arg	VAR_015431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015431	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	482	cd04514	285002251,NP_000018
175	288558804	Disease	p.Gly252Arg	VAR_015431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015431	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	238	pfam01112	285002251,NP_000018
175	288558804	Disease	p.Gly252Arg	VAR_015431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015431	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	233	cd04702	285002251,NP_000018
175	288558804	Disease	p.Gly252Arg	VAR_015431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015431	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	428	cd04701	285002251,NP_000018
175	288558804	Disease	p.Gly252Arg	VAR_015431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015431	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	244	COG1446	285002251,NP_000018
175	288558804	Disease	p.Gly252Arg	VAR_015431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015431	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	232	cd04703	285002251,NP_000018
175	288558804	Disease	p.Gly252Arg	VAR_015431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015431	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	266	cd04513	285002251,NP_000018
175	288558804	Disease	p.Gly252Arg	VAR_015431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015431	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	252	cd04512	285002251,NP_000018
175	288558804	Disease	p.Thr257Ile	VAR_015432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015432	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	487	cd04514	285002251,NP_000018
175	288558804	Disease	p.Thr257Ile	VAR_015432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015432	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	243	pfam01112	285002251,NP_000018
175	288558804	Disease	p.Thr257Ile	VAR_015432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015432	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	238	cd04702	285002251,NP_000018
175	288558804	Disease	p.Thr257Ile	VAR_015432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015432	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	433	cd04701	285002251,NP_000018
175	288558804	Disease	p.Thr257Ile	VAR_015432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015432	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	249	COG1446	285002251,NP_000018
175	288558804	Disease	p.Thr257Ile	VAR_015432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015432	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	237	cd04703	285002251,NP_000018
175	288558804	Disease	p.Thr257Ile	VAR_015432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015432	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	271	cd04513	285002251,NP_000018
175	288558804	Disease	p.Thr257Ile	VAR_015432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015432	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	257	cd04512	285002251,NP_000018
175	288558804	Disease	p.Gly302Arg	VAR_005074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005074	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	581	cd04514	285002251,NP_000018
175	288558804	Disease	p.Gly302Arg	VAR_005074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005074	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	295	pfam01112	285002251,NP_000018
175	288558804	Disease	p.Gly302Arg	VAR_005074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005074	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	284	cd04702	285002251,NP_000018
175	288558804	Disease	p.Gly302Arg	VAR_005074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005074	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	522	cd04701	285002251,NP_000018
175	288558804	Disease	p.Gly302Arg	VAR_005074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005074	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	307	COG1446	285002251,NP_000018
175	288558804	Disease	p.Gly302Arg	VAR_005074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005074	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	284	cd04703	285002251,NP_000018
175	288558804	Disease	p.Gly302Arg	VAR_005074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005074	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	326	cd04513	285002251,NP_000018
175	288558804	Disease	p.Gly302Arg	VAR_005074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005074	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	309	cd04512	285002251,NP_000018
175	288558804	Disease	p.Cys306Arg	VAR_005075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005075	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	585	cd04514	285002251,NP_000018
175	288558804	Disease	p.Cys306Arg	VAR_005075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005075	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	299	pfam01112	285002251,NP_000018
175	288558804	Disease	p.Cys306Arg	VAR_005075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005075	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	288	cd04702	285002251,NP_000018
175	288558804	Disease	p.Cys306Arg	VAR_005075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005075	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	526	cd04701	285002251,NP_000018
175	288558804	Disease	p.Cys306Arg	VAR_005075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005075	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	311	COG1446	285002251,NP_000018
175	288558804	Disease	p.Cys306Arg	VAR_005075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005075	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	289	cd04703	285002251,NP_000018
175	288558804	Disease	p.Cys306Arg	VAR_005075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005075	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	330	cd04513	285002251,NP_000018
175	288558804	Disease	p.Cys306Arg	VAR_005075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005075	- Aspartylglucosaminuria (AGU) [MIM:208400]	SWISS	313	cd04512	285002251,NP_000018
55109	45477317	Disease	p.Glu133Lys	VAR_017901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017901	rs34203073 Klippel-Trenaunay syndrome (KTS) [MIM:149000]	SWISS	No Domain	N/A	39725952,NP_060516
178	116242491	Disease	p.Gly1448Arg	VAR_009231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009231	- Glycogen storage disease type 3 (GSD3) [MIM:232400]	SWISS	509	pfam06202	116734851,NP_000634|116734847,NP_000019|116734857,NP_000635|116734860,NP_000633
178	116242491	Disease	p.Gly1448Arg	VAR_009231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009231	- Glycogen storage disease type 3 (GSD3) [MIM:232400]	SWISS	811	COG3408	116734851,NP_000634|116734847,NP_000019|116734857,NP_000635|116734860,NP_000633
10555	3914362	Disease	p.Gly136Arg	VAR_017328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017328	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	166	smart00563	6041665,NP_006403
10555	3914362	Disease	p.Gly136Arg	VAR_017328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017328	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	101	cd07991	6041665,NP_006403
10555	3914362	Disease	p.Gly136Arg	VAR_017328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017328	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	126	cd07990	6041665,NP_006403
10555	3914362	Disease	p.Gly136Arg	VAR_017328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017328	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	155	cd07989	6041665,NP_006403
10555	3914362	Disease	p.Gly136Arg	VAR_017328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017328	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	95	pfam01553	6041665,NP_006403
10555	3914362	Disease	p.Gly136Arg	VAR_017328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017328	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	82	cd07992	6041665,NP_006403
10555	3914362	Disease	p.Gly136Arg	VAR_017328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017328	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	100	cd06551	6041665,NP_006403
10555	3914362	Disease	p.Gly136Arg	VAR_017328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017328	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	74	cd07988	6041665,NP_006403
10555	3914362	Disease	p.Gly136Arg	VAR_017328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017328	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	158	COG0204	6041665,NP_006403
10555	3914362	Disease	p.Leu228Pro	VAR_017327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017327	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	254	cd07991	6041665,NP_006403
10555	3914362	Disease	p.Leu228Pro	VAR_017327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017327	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	323	cd07990	6041665,NP_006403
10555	3914362	Disease	p.Leu228Pro	VAR_017327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017327	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	327	cd07989	6041665,NP_006403
10555	3914362	Disease	p.Leu228Pro	VAR_017327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017327	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	296	cd07992	6041665,NP_006403
10555	3914362	Disease	p.Leu228Pro	VAR_017327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017327	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	330	cd06551	6041665,NP_006403
10555	3914362	Disease	p.Leu228Pro	VAR_017327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017327	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	154	cd07988	6041665,NP_006403
10555	3914362	Disease	p.Leu228Pro	VAR_017327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017327	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	354	COG0204	6041665,NP_006403
10555	3914362	Disease	p.Ala239Val	VAR_017325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017325	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	299	cd07991	6041665,NP_006403
10555	3914362	Disease	p.Ala239Val	VAR_017325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017325	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	369	cd07989	6041665,NP_006403
10555	3914362	Disease	p.Ala239Val	VAR_017325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017325	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	321	cd07992	6041665,NP_006403
10555	3914362	Disease	p.Ala239Val	VAR_017325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017325	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	364	cd06551	6041665,NP_006403
10555	3914362	Disease	p.Ala239Val	VAR_017325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017325	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	166	cd07988	6041665,NP_006403
10555	3914362	Disease	p.Ala239Val	VAR_017325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017325	- Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]	SWISS	365	COG0204	6041665,NP_006403
8540	2498106	Disease	p.Thr309Ile	VAR_025895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025895	- Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]	SWISS	231	COG0277	4501993,NP_003650
8540	2498106	Disease	p.Thr309Ile	VAR_025895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025895	- Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]	SWISS	142	pfam01565	4501993,NP_003650
8540	2498106	Disease	p.Arg419His	VAR_005002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005002	- Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]	SWISS	39	pfam02913	4501993,NP_003650
8540	2498106	Disease	p.Arg419His	VAR_005002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005002	- Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]	SWISS	425	COG0277	4501993,NP_003650
8540	2498106	Disease	p.Leu469Pro	VAR_025896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025896	- Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]	SWISS	89	pfam02913	4501993,NP_003650
8540	2498106	Disease	p.Leu469Pro	VAR_025896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025896	- Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]	SWISS	487	COG0277	4501993,NP_003650
183	113880	Disease	p.Arg375Gln	VAR_035433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035433	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	258	cd02055	4557287,NP_000020
183	113880	Disease	p.Arg375Gln	VAR_035433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035433	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	313	COG4826	4557287,NP_000020
183	113880	Disease	p.Arg375Gln	VAR_035433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035433	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	279	cd02044	4557287,NP_000020
183	113880	Disease	p.Arg375Gln	VAR_035433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035433	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	272_G	cd02052	4557287,NP_000020
183	113880	Disease	p.Arg375Gln	VAR_035433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035433	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	546	pfam00079	4557287,NP_000020
183	113880	Disease	p.Arg375Gln	VAR_035433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035433	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	255	cd02050	4557287,NP_000020
183	113880	Disease	p.Arg375Gln	VAR_035433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035433	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	267	cd02056	4557287,NP_000020
183	113880	Disease	p.Arg375Gln	VAR_035433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035433	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	446	smart00093	4557287,NP_000020
183	113880	Disease	p.Arg375Gln	VAR_035433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035433	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	287	cd02043	4557287,NP_000020
183	113880	Disease	p.Arg375Gln	VAR_035433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035433	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	338	cd02047	4557287,NP_000020
183	113880	Disease	p.Arg375Gln	VAR_035433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035433	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	424	cd00172	4557287,NP_000020
183	113880	Disease	p.Arg375Gln	VAR_035433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035433	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	261	cd02046	4557287,NP_000020
183	113880	Disease	p.Arg375Gln	VAR_035433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035433	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	314	cd02051	4557287,NP_000020
183	113880	Disease	p.Arg375Gln	VAR_035433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035433	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	275	cd02054	4557287,NP_000020
183	113880	Disease	p.Arg375Gln	VAR_035433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035433	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	307	cd02059	4557287,NP_000020
183	113880	Disease	p.Arg375Gln	VAR_035433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035433	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	269	cd02049	4557287,NP_000020
183	113880	Disease	p.Arg375Gln	VAR_035433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035433	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	249	cd02053	4557287,NP_000020
185	231519	Disease	p.Thr282Met	VAR_035086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035086	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	410	pfam00001	14043064,NP_114038|6715583,NP_033611|14043062,NP_004826|14043066,NP_114438|4501997,NP_000676
189	134855	Disease	p.Thr9Asn	VAR_060547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060547	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	6	COG0520	4557289,NP_000021
189	134855	Disease	p.Gly41Arg	VAR_000588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000588	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	80	COG0520	4557289,NP_000021
189	134855	Disease	p.Gly41Arg	VAR_000588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000588	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	18	cd06451	4557289,NP_000021
189	134855	Disease	p.Gly41Arg	VAR_000588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000588	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	19	pfam00266	4557289,NP_000021
189	134855	Disease	p.Gly41Arg	VAR_000588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000588	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	31	COG0075	4557289,NP_000021
189	134855	Disease	p.Gly41Val	VAR_010969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010969	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	80	COG0520	4557289,NP_000021
189	134855	Disease	p.Gly41Val	VAR_010969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010969	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	18	cd06451	4557289,NP_000021
189	134855	Disease	p.Gly41Val	VAR_010969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010969	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	19	pfam00266	4557289,NP_000021
189	134855	Disease	p.Gly41Val	VAR_010969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010969	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	31	COG0075	4557289,NP_000021
189	134855	Disease	p.Gly82Glu	VAR_008878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008878	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	122	COG0520	4557289,NP_000021
189	134855	Disease	p.Gly82Glu	VAR_008878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008878	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	20	cd06453	4557289,NP_000021
189	134855	Disease	p.Gly82Glu	VAR_008878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008878	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	36	cd01494	4557289,NP_000021
189	134855	Disease	p.Gly82Glu	VAR_008878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008878	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	62	cd06451	4557289,NP_000021
189	134855	Disease	p.Gly82Glu	VAR_008878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008878	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	73	pfam00266	4557289,NP_000021
189	134855	Disease	p.Gly82Glu	VAR_008878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008878	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	82	COG0075	4557289,NP_000021
189	134855	Disease	p.Gly82Arg	VAR_060548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060548	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	122	COG0520	4557289,NP_000021
189	134855	Disease	p.Gly82Arg	VAR_060548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060548	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	20	cd06453	4557289,NP_000021
189	134855	Disease	p.Gly82Arg	VAR_060548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060548	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	36	cd01494	4557289,NP_000021
189	134855	Disease	p.Gly82Arg	VAR_060548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060548	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	62	cd06451	4557289,NP_000021
189	134855	Disease	p.Gly82Arg	VAR_060548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060548	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	73	pfam00266	4557289,NP_000021
189	134855	Disease	p.Gly82Arg	VAR_060548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060548	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	82	COG0075	4557289,NP_000021
189	134855	Disease	p.Trp108Arg	VAR_060549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060549	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	171	COG0520	4557289,NP_000021
189	134855	Disease	p.Trp108Arg	VAR_060549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060549	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	82	cd06453	4557289,NP_000021
189	134855	Disease	p.Trp108Arg	VAR_060549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060549	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	90	cd01494	4557289,NP_000021
189	134855	Disease	p.Trp108Arg	VAR_060549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060549	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	91	cd06451	4557289,NP_000021
189	134855	Disease	p.Trp108Arg	VAR_060549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060549	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	107	pfam00266	4557289,NP_000021
189	134855	Disease	p.Trp108Arg	VAR_060549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060549	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	111	COG0075	4557289,NP_000021
189	134855	Disease	p.Ala112Asp	VAR_060550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060550	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	175	COG0520	4557289,NP_000021
189	134855	Disease	p.Ala112Asp	VAR_060550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060550	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	99	cd06453	4557289,NP_000021
189	134855	Disease	p.Ala112Asp	VAR_060550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060550	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	94	cd01494	4557289,NP_000021
189	134855	Disease	p.Ala112Asp	VAR_060550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060550	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	95	cd06451	4557289,NP_000021
189	134855	Disease	p.Ala112Asp	VAR_060550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060550	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	113	pfam00266	4557289,NP_000021
189	134855	Disease	p.Ala112Asp	VAR_060550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060550	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	115	COG0075	4557289,NP_000021
189	134855	Disease	p.Gly116Arg	VAR_010971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010971	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	176_G	COG0520	4557289,NP_000021
189	134855	Disease	p.Gly116Arg	VAR_010971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010971	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	121	cd06453	4557289,NP_000021
189	134855	Disease	p.Gly116Arg	VAR_010971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010971	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	110	cd01494	4557289,NP_000021
189	134855	Disease	p.Gly116Arg	VAR_010971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010971	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	99	cd06451	4557289,NP_000021
189	134855	Disease	p.Gly116Arg	VAR_010971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010971	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	117	pfam00266	4557289,NP_000021
189	134855	Disease	p.Gly116Arg	VAR_010971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010971	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	119	COG0075	4557289,NP_000021
189	134855	Disease	p.Phe152Ile	VAR_000589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000589	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	219	COG0520	4557289,NP_000021
189	134855	Disease	p.Phe152Ile	VAR_000589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000589	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	163	cd06453	4557289,NP_000021
189	134855	Disease	p.Phe152Ile	VAR_000589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000589	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	167	cd01494	4557289,NP_000021
189	134855	Disease	p.Phe152Ile	VAR_000589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000589	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	139	cd06451	4557289,NP_000021
189	134855	Disease	p.Phe152Ile	VAR_000589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000589	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	162	pfam00266	4557289,NP_000021
189	134855	Disease	p.Phe152Ile	VAR_000589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000589	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	165	COG0075	4557289,NP_000021
189	134855	Disease	p.Leu153Val	VAR_060552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060552	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	220	COG0520	4557289,NP_000021
189	134855	Disease	p.Leu153Val	VAR_060552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060552	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	164	cd06453	4557289,NP_000021
189	134855	Disease	p.Leu153Val	VAR_060552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060552	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	168	cd01494	4557289,NP_000021
189	134855	Disease	p.Leu153Val	VAR_060552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060552	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	140	cd06451	4557289,NP_000021
189	134855	Disease	p.Leu153Val	VAR_060552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060552	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	163	pfam00266	4557289,NP_000021
189	134855	Disease	p.Leu153Val	VAR_060552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060552	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	166	COG0075	4557289,NP_000021
189	134855	Disease	p.Gly156Arg	VAR_010972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010972	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	223	COG0520	4557289,NP_000021
189	134855	Disease	p.Gly156Arg	VAR_010972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010972	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	167	cd06453	4557289,NP_000021
189	134855	Disease	p.Gly156Arg	VAR_010972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010972	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	171	cd01494	4557289,NP_000021
189	134855	Disease	p.Gly156Arg	VAR_010972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010972	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	143	cd06451	4557289,NP_000021
189	134855	Disease	p.Gly156Arg	VAR_010972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010972	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	166	pfam00266	4557289,NP_000021
189	134855	Disease	p.Gly156Arg	VAR_010972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010972	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	169	COG0075	4557289,NP_000021
189	134855	Disease	p.Ser158Leu	VAR_060553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060553	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	225	COG0520	4557289,NP_000021
189	134855	Disease	p.Ser158Leu	VAR_060553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060553	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	169	cd06453	4557289,NP_000021
189	134855	Disease	p.Ser158Leu	VAR_060553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060553	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	173	cd01494	4557289,NP_000021
189	134855	Disease	p.Ser158Leu	VAR_060553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060553	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	145	cd06451	4557289,NP_000021
189	134855	Disease	p.Ser158Leu	VAR_060553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060553	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	168	pfam00266	4557289,NP_000021
189	134855	Disease	p.Ser158Leu	VAR_060553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060553	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	171	COG0075	4557289,NP_000021
189	134855	Disease	p.Gly161Arg	VAR_060554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060554	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	228	COG0520	4557289,NP_000021
189	134855	Disease	p.Gly161Arg	VAR_060554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060554	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	172	cd06453	4557289,NP_000021
189	134855	Disease	p.Gly161Arg	VAR_060554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060554	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	176	cd01494	4557289,NP_000021
189	134855	Disease	p.Gly161Arg	VAR_060554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060554	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	148	cd06451	4557289,NP_000021
189	134855	Disease	p.Gly161Arg	VAR_060554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060554	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	171	pfam00266	4557289,NP_000021
189	134855	Disease	p.Gly161Arg	VAR_060554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060554	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	174	COG0075	4557289,NP_000021
189	134855	Disease	p.Gly170Arg	VAR_000590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000590	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	238	COG0520	4557289,NP_000021
189	134855	Disease	p.Gly170Arg	VAR_000590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000590	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	181	cd06453	4557289,NP_000021
189	134855	Disease	p.Gly170Arg	VAR_000590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000590	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	189	cd01494	4557289,NP_000021
189	134855	Disease	p.Gly170Arg	VAR_000590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000590	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	157	cd06451	4557289,NP_000021
189	134855	Disease	p.Gly170Arg	VAR_000590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000590	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	181	pfam00266	4557289,NP_000021
189	134855	Disease	p.Gly170Arg	VAR_000590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000590	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	184	COG0075	4557289,NP_000021
189	134855	Disease	p.Cys173Tyr	VAR_060555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060555	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	241	COG0520	4557289,NP_000021
189	134855	Disease	p.Cys173Tyr	VAR_060555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060555	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	184	cd06453	4557289,NP_000021
189	134855	Disease	p.Cys173Tyr	VAR_060555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060555	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	192	cd01494	4557289,NP_000021
189	134855	Disease	p.Cys173Tyr	VAR_060555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060555	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	160	cd06451	4557289,NP_000021
189	134855	Disease	p.Cys173Tyr	VAR_060555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060555	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	184	pfam00266	4557289,NP_000021
189	134855	Disease	p.Cys173Tyr	VAR_060555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060555	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	187	COG0075	4557289,NP_000021
189	134855	Disease	p.Asp183Asn	VAR_010973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010973	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	259	COG0520	4557289,NP_000021
189	134855	Disease	p.Asp183Asn	VAR_010973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010973	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	194	cd06453	4557289,NP_000021
189	134855	Disease	p.Asp183Asn	VAR_010973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010973	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	202	cd01494	4557289,NP_000021
189	134855	Disease	p.Asp183Asn	VAR_010973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010973	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	172	cd06451	4557289,NP_000021
189	134855	Disease	p.Asp183Asn	VAR_010973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010973	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	196	pfam00266	4557289,NP_000021
189	134855	Disease	p.Asp183Asn	VAR_010973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010973	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	199	COG0075	4557289,NP_000021
189	134855	Disease	p.Ser187Phe	VAR_000591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000591	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	263	COG0520	4557289,NP_000021
189	134855	Disease	p.Ser187Phe	VAR_000591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000591	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	198	cd06453	4557289,NP_000021
189	134855	Disease	p.Ser187Phe	VAR_000591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000591	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	206	cd01494	4557289,NP_000021
189	134855	Disease	p.Ser187Phe	VAR_000591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000591	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	176	cd06451	4557289,NP_000021
189	134855	Disease	p.Ser187Phe	VAR_000591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000591	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	200	pfam00266	4557289,NP_000021
189	134855	Disease	p.Ser187Phe	VAR_000591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000591	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	203	COG0075	4557289,NP_000021
189	134855	Disease	p.Gly190Arg	VAR_060556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060556	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	266	COG0520	4557289,NP_000021
189	134855	Disease	p.Gly190Arg	VAR_060556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060556	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	201	cd06453	4557289,NP_000021
189	134855	Disease	p.Gly190Arg	VAR_060556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060556	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	209	cd01494	4557289,NP_000021
189	134855	Disease	p.Gly190Arg	VAR_060556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060556	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	179	cd06451	4557289,NP_000021
189	134855	Disease	p.Gly190Arg	VAR_060556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060556	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	203	pfam00266	4557289,NP_000021
189	134855	Disease	p.Gly190Arg	VAR_060556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060556	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	206	COG0075	4557289,NP_000021
189	134855	Disease	p.Met195Arg	VAR_060557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060557	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	271	COG0520	4557289,NP_000021
189	134855	Disease	p.Met195Arg	VAR_060557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060557	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	206	cd06453	4557289,NP_000021
189	134855	Disease	p.Met195Arg	VAR_060557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060557	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	231	cd01494	4557289,NP_000021
189	134855	Disease	p.Met195Arg	VAR_060557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060557	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	184	cd06451	4557289,NP_000021
189	134855	Disease	p.Met195Arg	VAR_060557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060557	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	208	pfam00266	4557289,NP_000021
189	134855	Disease	p.Met195Arg	VAR_060557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060557	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	211	COG0075	4557289,NP_000021
189	134855	Disease	p.Asp201Glu	VAR_060558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060558	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	280	COG0520	4557289,NP_000021
189	134855	Disease	p.Asp201Glu	VAR_060558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060558	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	212	cd06453	4557289,NP_000021
189	134855	Disease	p.Asp201Glu	VAR_060558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060558	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	237	cd01494	4557289,NP_000021
189	134855	Disease	p.Asp201Glu	VAR_060558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060558	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	190	cd06451	4557289,NP_000021
189	134855	Disease	p.Asp201Glu	VAR_060558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060558	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	214	pfam00266	4557289,NP_000021
189	134855	Disease	p.Asp201Glu	VAR_060558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060558	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	217	COG0075	4557289,NP_000021
189	134855	Disease	p.Ser205Pro	VAR_000592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000592	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	284	COG0520	4557289,NP_000021
189	134855	Disease	p.Ser205Pro	VAR_000592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000592	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	223	cd06453	4557289,NP_000021
189	134855	Disease	p.Ser205Pro	VAR_000592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000592	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	241	cd01494	4557289,NP_000021
189	134855	Disease	p.Ser205Pro	VAR_000592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000592	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	194	cd06451	4557289,NP_000021
189	134855	Disease	p.Ser205Pro	VAR_000592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000592	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	218	pfam00266	4557289,NP_000021
189	134855	Disease	p.Ser205Pro	VAR_000592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000592	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	221	COG0075	4557289,NP_000021
189	134855	Disease	p.Ser218Leu	VAR_060559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060559	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	298	COG0520	4557289,NP_000021
189	134855	Disease	p.Ser218Leu	VAR_060559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060559	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	249	cd06453	4557289,NP_000021
189	134855	Disease	p.Ser218Leu	VAR_060559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060559	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	261	cd01494	4557289,NP_000021
189	134855	Disease	p.Ser218Leu	VAR_060559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060559	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	207	cd06451	4557289,NP_000021
189	134855	Disease	p.Ser218Leu	VAR_060559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060559	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	231	pfam00266	4557289,NP_000021
189	134855	Disease	p.Ser218Leu	VAR_060559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060559	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	234	COG0075	4557289,NP_000021
189	134855	Disease	p.Arg233Cys	VAR_008879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008879	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	320	COG0520	4557289,NP_000021
189	134855	Disease	p.Arg233Cys	VAR_008879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008879	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	265	cd06453	4557289,NP_000021
189	134855	Disease	p.Arg233Cys	VAR_008879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008879	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	222	cd06451	4557289,NP_000021
189	134855	Disease	p.Arg233Cys	VAR_008879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008879	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	246	pfam00266	4557289,NP_000021
189	134855	Disease	p.Arg233Cys	VAR_008879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008879	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	249	COG0075	4557289,NP_000021
189	134855	Disease	p.Arg233His	VAR_008880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008880	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	320	COG0520	4557289,NP_000021
189	134855	Disease	p.Arg233His	VAR_008880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008880	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	265	cd06453	4557289,NP_000021
189	134855	Disease	p.Arg233His	VAR_008880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008880	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	222	cd06451	4557289,NP_000021
189	134855	Disease	p.Arg233His	VAR_008880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008880	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	246	pfam00266	4557289,NP_000021
189	134855	Disease	p.Arg233His	VAR_008880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008880	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	249	COG0075	4557289,NP_000021
189	134855	Disease	p.Arg233Leu	VAR_060560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060560	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	320	COG0520	4557289,NP_000021
189	134855	Disease	p.Arg233Leu	VAR_060560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060560	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	265	cd06453	4557289,NP_000021
189	134855	Disease	p.Arg233Leu	VAR_060560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060560	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	222	cd06451	4557289,NP_000021
189	134855	Disease	p.Arg233Leu	VAR_060560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060560	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	246	pfam00266	4557289,NP_000021
189	134855	Disease	p.Arg233Leu	VAR_060560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060560	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	249	COG0075	4557289,NP_000021
189	134855	Disease	p.Asp243His	VAR_060561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060561	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	330	COG0520	4557289,NP_000021
189	134855	Disease	p.Asp243His	VAR_060561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060561	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	275_G	cd06453	4557289,NP_000021
189	134855	Disease	p.Asp243His	VAR_060561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060561	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	233	cd06451	4557289,NP_000021
189	134855	Disease	p.Asp243His	VAR_060561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060561	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	256	pfam00266	4557289,NP_000021
189	134855	Disease	p.Asp243His	VAR_060561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060561	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	277	COG0075	4557289,NP_000021
189	134855	Disease	p.Ile244Thr	VAR_008881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008881	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	331	COG0520	4557289,NP_000021
189	134855	Disease	p.Ile244Thr	VAR_008881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008881	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	275_G	cd06453	4557289,NP_000021
189	134855	Disease	p.Ile244Thr	VAR_008881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008881	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	234	cd06451	4557289,NP_000021
189	134855	Disease	p.Ile244Thr	VAR_008881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008881	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	257	pfam00266	4557289,NP_000021
189	134855	Disease	p.Ile244Thr	VAR_008881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008881	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	278	COG0075	4557289,NP_000021
189	134855	Disease	p.Cys253Arg	VAR_060562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060562	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	344	COG0520	4557289,NP_000021
189	134855	Disease	p.Cys253Arg	VAR_060562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060562	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	275_G	cd06453	4557289,NP_000021
189	134855	Disease	p.Cys253Arg	VAR_060562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060562	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	243	cd06451	4557289,NP_000021
189	134855	Disease	p.Cys253Arg	VAR_060562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060562	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	270	pfam00266	4557289,NP_000021
189	134855	Disease	p.Cys253Arg	VAR_060562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060562	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	285_G	COG0075	4557289,NP_000021
189	134855	Disease	p.Ile279Met	VAR_060563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060563	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	377	COG0520	4557289,NP_000021
189	134855	Disease	p.Ile279Met	VAR_060563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060563	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	292	cd06453	4557289,NP_000021
189	134855	Disease	p.Ile279Met	VAR_060563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060563	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	271	cd06451	4557289,NP_000021
189	134855	Disease	p.Ile279Met	VAR_060563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060563	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	298	pfam00266	4557289,NP_000021
189	134855	Disease	p.Ile279Met	VAR_060563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060563	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	314	COG0075	4557289,NP_000021
189	134855	Disease	p.Ser287Thr	VAR_060566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060566	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	423	COG0520	4557289,NP_000021
189	134855	Disease	p.Ser287Thr	VAR_060566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060566	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	301	cd06453	4557289,NP_000021
189	134855	Disease	p.Ser287Thr	VAR_060566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060566	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	280	cd06451	4557289,NP_000021
189	134855	Disease	p.Ser287Thr	VAR_060566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060566	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	307	pfam00266	4557289,NP_000021
189	134855	Disease	p.Ser287Thr	VAR_060566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060566	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	323	COG0075	4557289,NP_000021
189	134855	Disease	p.Arg289Cys	VAR_060567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060567	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	425	COG0520	4557289,NP_000021
189	134855	Disease	p.Arg289Cys	VAR_060567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060567	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	303	cd06453	4557289,NP_000021
189	134855	Disease	p.Arg289Cys	VAR_060567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060567	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	282	cd06451	4557289,NP_000021
189	134855	Disease	p.Arg289Cys	VAR_060567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060567	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	309	pfam00266	4557289,NP_000021
189	134855	Disease	p.Arg289Cys	VAR_060567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060567	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	325	COG0075	4557289,NP_000021
189	134855	Disease	p.Leu298Pro	VAR_060569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060569	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	434	COG0520	4557289,NP_000021
189	134855	Disease	p.Leu298Pro	VAR_060569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060569	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	312	cd06453	4557289,NP_000021
189	134855	Disease	p.Leu298Pro	VAR_060569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060569	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	291	cd06451	4557289,NP_000021
189	134855	Disease	p.Leu298Pro	VAR_060569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060569	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	318	pfam00266	4557289,NP_000021
189	134855	Disease	p.Leu298Pro	VAR_060569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060569	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	334	COG0075	4557289,NP_000021
189	134855	Disease	p.Val336Asp	VAR_060571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060571	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	488	COG0520	4557289,NP_000021
189	134855	Disease	p.Val336Asp	VAR_060571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060571	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	355	cd06453	4557289,NP_000021
189	134855	Disease	p.Val336Asp	VAR_060571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060571	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	330	cd06451	4557289,NP_000021
189	134855	Disease	p.Val336Asp	VAR_060571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060571	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	365	pfam00266	4557289,NP_000021
189	134855	Disease	p.Val336Asp	VAR_060571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060571	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	375	COG0075	4557289,NP_000021
189	134855	Disease	p.Gly350Asp	VAR_060572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060572	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	502	COG0520	4557289,NP_000021
189	134855	Disease	p.Gly350Asp	VAR_060572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060572	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	370	cd06453	4557289,NP_000021
189	134855	Disease	p.Gly350Asp	VAR_060572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060572	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	345	cd06451	4557289,NP_000021
189	134855	Disease	p.Gly350Asp	VAR_060572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060572	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	379	pfam00266	4557289,NP_000021
189	134855	Disease	p.Gly350Asp	VAR_060572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060572	- Hyperoxaluria primary type 1 (HP1) [MIM:259900]	SWISS	390	COG0075	4557289,NP_000021
191	20141702	Disease	p.Arg49Cys	VAR_058588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058588	- S-adenosylhomocysteine hydrolase deficiency (AHCY deficiency) [MIM:180960]	SWISS	48	COG0499	9951915,NP_000678
191	20141702	Disease	p.Arg49Cys	VAR_058588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058588	- S-adenosylhomocysteine hydrolase deficiency (AHCY deficiency) [MIM:180960]	SWISS	38	cd00401	9951915,NP_000678
191	20141702	Disease	p.Arg49Cys	VAR_058588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058588	- S-adenosylhomocysteine hydrolase deficiency (AHCY deficiency) [MIM:180960]	SWISS	45	pfam05221	9951915,NP_000678
191	20141702	Disease	p.Asp86Gly	VAR_058589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058589	- S-adenosylhomocysteine hydrolase deficiency (AHCY deficiency) [MIM:180960]	SWISS	85	COG0499	9951915,NP_000678
191	20141702	Disease	p.Asp86Gly	VAR_058589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058589	- S-adenosylhomocysteine hydrolase deficiency (AHCY deficiency) [MIM:180960]	SWISS	75	cd00401	9951915,NP_000678
191	20141702	Disease	p.Asp86Gly	VAR_058589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058589	- S-adenosylhomocysteine hydrolase deficiency (AHCY deficiency) [MIM:180960]	SWISS	82	pfam05221	9951915,NP_000678
191	20141702	Disease	p.Ala89Val	VAR_058590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058590	- S-adenosylhomocysteine hydrolase deficiency (AHCY deficiency) [MIM:180960]	SWISS	88	COG0499	9951915,NP_000678
191	20141702	Disease	p.Ala89Val	VAR_058590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058590	- S-adenosylhomocysteine hydrolase deficiency (AHCY deficiency) [MIM:180960]	SWISS	78	cd00401	9951915,NP_000678
191	20141702	Disease	p.Ala89Val	VAR_058590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058590	- S-adenosylhomocysteine hydrolase deficiency (AHCY deficiency) [MIM:180960]	SWISS	85	pfam05221	9951915,NP_000678
191	20141702	Disease	p.Tyr143Cys	VAR_058591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058591	- S-adenosylhomocysteine hydrolase deficiency (AHCY deficiency) [MIM:180960]	SWISS	175	COG0499	9951915,NP_000678
191	20141702	Disease	p.Tyr143Cys	VAR_058591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058591	- S-adenosylhomocysteine hydrolase deficiency (AHCY deficiency) [MIM:180960]	SWISS	144	cd00401	9951915,NP_000678
191	20141702	Disease	p.Tyr143Cys	VAR_058591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058591	- S-adenosylhomocysteine hydrolase deficiency (AHCY deficiency) [MIM:180960]	SWISS	193	pfam05221	9951915,NP_000678
54806	73921659	Disease	p.Val443Asp	VAR_023391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023391	- Joubert syndrome type 3 (JBTS3) [MIM:608629]	SWISS	204	COG2319	199559490,NP_001128303|31542701,NP_060121|199559438,NP_001128302
54806	73921659	Disease	p.Arg723Gln	VAR_037894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037894	- Joubert syndrome type 3 (JBTS3) [MIM:608629]	SWISS	441	cd00200	199559490,NP_001128303|31542701,NP_060121|199559438,NP_001128302
54806	73921659	Disease	p.Arg723Gln	VAR_037894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037894	- Joubert syndrome type 3 (JBTS3) [MIM:608629]	SWISS	116	smart00320	199559490,NP_001128303|31542701,NP_060121|199559438,NP_001128302
54806	73921659	Disease	p.Arg723Gln	VAR_037894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037894	- Joubert syndrome type 3 (JBTS3) [MIM:608629]	SWISS	63	pfam00400	199559490,NP_001128303|31542701,NP_060121|199559438,NP_001128302
54806	73921659	Disease	p.Arg723Gln	VAR_037894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037894	- Joubert syndrome type 3 (JBTS3) [MIM:608629]	SWISS	842	COG2319	199559490,NP_001128303|31542701,NP_060121|199559438,NP_001128302
57379	23813666	Disease	p.Arg24Trp	VAR_013774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013774	- Hyper-IgM immunodeficiency syndrome type 2 (HIGM2) [MIM:605258]	SWISS	25	pfam08210	10190700,NP_065712
57379	23813666	Disease	p.Arg24Trp	VAR_013774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013774	- Hyper-IgM immunodeficiency syndrome type 2 (HIGM2) [MIM:605258]	SWISS	31	cd01283	10190700,NP_065712
57379	23813666	Disease	p.Trp80Arg	VAR_013775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013775	- Hyper-IgM immunodeficiency syndrome type 2 (HIGM2) [MIM:605258]	SWISS	112	pfam08210	10190700,NP_065712
57379	23813666	Disease	p.Trp80Arg	VAR_013775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013775	- Hyper-IgM immunodeficiency syndrome type 2 (HIGM2) [MIM:605258]	SWISS	118	cd01283	10190700,NP_065712
57379	23813666	Disease	p.Leu106Pro	VAR_013776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013776	- Hyper-IgM immunodeficiency syndrome type 2 (HIGM2) [MIM:605258]	SWISS	142	pfam08210	10190700,NP_065712
57379	23813666	Disease	p.Leu106Pro	VAR_013776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013776	- Hyper-IgM immunodeficiency syndrome type 2 (HIGM2) [MIM:605258]	SWISS	161	cd01283	10190700,NP_065712
57379	23813666	Disease	p.Met139Val	VAR_013777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013777	- Hyper-IgM immunodeficiency syndrome type 2 (HIGM2) [MIM:605258]	SWISS	25	pfam05240	10190700,NP_065712
57379	23813666	Disease	p.Met139Val	VAR_013777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013777	- Hyper-IgM immunodeficiency syndrome type 2 (HIGM2) [MIM:605258]	SWISS	197	cd01283	10190700,NP_065712
57379	23813666	Disease	p.Phe151Ser	VAR_013778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013778	- Hyper-IgM immunodeficiency syndrome type 2 (HIGM2) [MIM:605258]	SWISS	37	pfam05240	10190700,NP_065712
23746	23503042	Disease	p.Cys239Arg	VAR_010139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010139	- Leber congenital amaurosis type 4 (LCA4) [MIM:604393]	SWISS	71	cd00189	74272276,NP_055151
326	3334119	Disease	p.Arg15Cys	VAR_026480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026480	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	16	pfam03172	4557291,NP_000374
326	3334119	Disease	p.Arg15Leu	VAR_013713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013713	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	16	pfam03172	4557291,NP_000374
326	3334119	Disease	p.Thr16Met	VAR_013714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013714	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	17	pfam03172	4557291,NP_000374
326	3334119	Disease	p.Ala21Val	VAR_026481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026481	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	22	pfam03172	4557291,NP_000374
326	3334119	Disease	p.Leu28Pro	VAR_005004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005004	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	29	pfam03172	4557291,NP_000374
326	3334119	Disease	p.Leu29Pro	VAR_013715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013715	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	30	pfam03172	4557291,NP_000374
326	3334119	Disease	p.Phe77Ser	VAR_026483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026483	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	79	pfam03172	4557291,NP_000374
326	3334119	Disease	p.Trp78Arg	VAR_013716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013716	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	80	pfam03172	4557291,NP_000374
326	3334119	Disease	p.Val80Leu	VAR_013717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013717	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	82	pfam03172	4557291,NP_000374
326	3334119	Disease	p.Lys83Glu	VAR_005005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005005	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	85	pfam03172	4557291,NP_000374
326	3334119	Disease	p.Tyr85Cys	VAR_013718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013718	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	87	pfam03172	4557291,NP_000374
326	3334119	Disease	p.Tyr90Cys	VAR_013719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013719	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	92	pfam03172	4557291,NP_000374
326	3334119	Disease	p.Leu93Arg	VAR_013720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013720	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	95	pfam03172	4557291,NP_000374
326	3334119	Disease	p.Gly228Trp	VAR_014422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014422	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	35	smart00258	4557291,NP_000374
326	3334119	Disease	p.Gly228Trp	VAR_014422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014422	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	79	pfam01342	4557291,NP_000374
326	3334119	Disease	p.Pro252Leu	VAR_026484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026484	rs34397615 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	68	smart00258	4557291,NP_000374
326	3334119	Disease	p.Pro252Leu	VAR_026484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026484	rs34397615 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	119	pfam01342	4557291,NP_000374
326	3334119	Disease	p.Val301Met	VAR_013721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013721	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	6	smart00249	4557291,NP_000374
326	3334119	Disease	p.Val301Met	VAR_013721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013721	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	4	pfam00628	4557291,NP_000374
326	3334119	Disease	p.Cys311Tyr	VAR_013723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013723	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	54	smart00249	4557291,NP_000374
326	3334119	Disease	p.Cys311Tyr	VAR_013723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013723	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	25	pfam00628	4557291,NP_000374
326	3334119	Disease	p.Pro326Leu	VAR_026485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026485	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	73	smart00249	4557291,NP_000374
326	3334119	Disease	p.Pro326Leu	VAR_026485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026485	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	46	pfam00628	4557291,NP_000374
326	3334119	Disease	p.Pro326Gln	VAR_013724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013724	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	73	smart00249	4557291,NP_000374
326	3334119	Disease	p.Pro326Gln	VAR_013724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013724	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	46	pfam00628	4557291,NP_000374
326	3334119	Disease	p.Pro539Leu	VAR_026486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026486	- Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]	SWISS	No Domain	N/A	4557291,NP_000374
204	1708596	Disease	p.Arg103Trp	VAR_054630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054630	- Reticular dysgenesis (RDYS) [MIM:267500]	SWISS	110	COG0563	4502013,NP_001616
204	1708596	Disease	p.Arg103Trp	VAR_054630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054630	- Reticular dysgenesis (RDYS) [MIM:267500]	SWISS	149	cd02019	4502013,NP_001616
204	1708596	Disease	p.Arg103Trp	VAR_054630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054630	- Reticular dysgenesis (RDYS) [MIM:267500]	SWISS	243	cd01428	4502013,NP_001616
204	1708596	Disease	p.Arg103Trp	VAR_054630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054630	- Reticular dysgenesis (RDYS) [MIM:267500]	SWISS	87	pfam00406	4502013,NP_001616
204	1708596	Disease	p.Asp165Gly	VAR_054631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054631	- Reticular dysgenesis (RDYS) [MIM:267500]	SWISS	36	pfam05191	4502013,NP_001616
204	1708596	Disease	p.Asp165Gly	VAR_054631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054631	- Reticular dysgenesis (RDYS) [MIM:267500]	SWISS	177	COG0563	4502013,NP_001616
204	1708596	Disease	p.Asp165Gly	VAR_054631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054631	- Reticular dysgenesis (RDYS) [MIM:267500]	SWISS	233	cd02019	4502013,NP_001616
204	1708596	Disease	p.Asp165Gly	VAR_054631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054631	- Reticular dysgenesis (RDYS) [MIM:267500]	SWISS	376	cd01428	4502013,NP_001616
204	1708596	Disease	p.Asp165Gly	VAR_054631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054631	- Reticular dysgenesis (RDYS) [MIM:267500]	SWISS	150	pfam00406	4502013,NP_001616
10142	14194461	Disease	p.Ser1582Leu	VAR_043489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043489	- Long QT syndrome type 11 (LQT11) [MIM:611820]	SWISS	No Domain	N/A	NULL
6718	1703007	Disease	p.Leu106Phe	VAR_033007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033007	- Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]	SWISS	176	COG0667	5174695,NP_005980
6718	1703007	Disease	p.Leu106Phe	VAR_033007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033007	- Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]	SWISS	118	COG4989	5174695,NP_005980
6718	1703007	Disease	p.Leu106Phe	VAR_033007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033007	- Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]	SWISS	217	cd06660	5174695,NP_005980
6718	1703007	Disease	p.Leu106Phe	VAR_033007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033007	- Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]	SWISS	205	pfam00248	5174695,NP_005980
6718	1703007	Disease	p.Leu106Phe	VAR_033007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033007	- Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]	SWISS	123	COG0656	5174695,NP_005980
6718	1703007	Disease	p.Pro133Arg	VAR_044430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044430	- Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]	SWISS	224	COG0667	5174695,NP_005980
6718	1703007	Disease	p.Pro133Arg	VAR_044430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044430	- Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]	SWISS	142_G	COG4989	5174695,NP_005980
6718	1703007	Disease	p.Pro133Arg	VAR_044430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044430	- Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]	SWISS	274	cd06660	5174695,NP_005980
6718	1703007	Disease	p.Pro133Arg	VAR_044430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044430	- Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]	SWISS	234	pfam00248	5174695,NP_005980
6718	1703007	Disease	p.Pro133Arg	VAR_044430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044430	- Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]	SWISS	166	COG0656	5174695,NP_005980
6718	1703007	Disease	p.Pro198Leu	VAR_033008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033008	- Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]	SWISS	286	COG0667	5174695,NP_005980
6718	1703007	Disease	p.Pro198Leu	VAR_033008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033008	- Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]	SWISS	192	COG4989	5174695,NP_005980
6718	1703007	Disease	p.Pro198Leu	VAR_033008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033008	- Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]	SWISS	393	cd06660	5174695,NP_005980
6718	1703007	Disease	p.Pro198Leu	VAR_033008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033008	- Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]	SWISS	338	pfam00248	5174695,NP_005980
6718	1703007	Disease	p.Pro198Leu	VAR_033008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033008	- Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]	SWISS	234	COG0656	5174695,NP_005980
6718	1703007	Disease	p.Arg261Cys	VAR_044431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044431	- Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]	SWISS	399	COG0667	5174695,NP_005980
6718	1703007	Disease	p.Arg261Cys	VAR_044431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044431	- Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]	SWISS	276	COG4989	5174695,NP_005980
6718	1703007	Disease	p.Arg261Cys	VAR_044431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044431	- Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]	SWISS	551	cd06660	5174695,NP_005980
6718	1703007	Disease	p.Arg261Cys	VAR_044431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044431	- Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]	SWISS	494	pfam00248	5174695,NP_005980
6718	1703007	Disease	p.Arg261Cys	VAR_044431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044431	- Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]	SWISS	322	COG0656	5174695,NP_005980
210	122833	Disease	p.Gly133Arg	VAR_003634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003634	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	129	cd04824	189083849,NP_000022
210	122833	Disease	p.Gly133Arg	VAR_003634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003634	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	141	COG0113	189083849,NP_000022
210	122833	Disease	p.Gly133Arg	VAR_003634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003634	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	134	cd04823	189083849,NP_000022
210	122833	Disease	p.Gly133Arg	VAR_003634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003634	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	131	cd00384	189083849,NP_000022
210	122833	Disease	p.Gly133Arg	VAR_003634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003634	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	148	pfam00490	189083849,NP_000022
210	122833	Disease	p.Val153Met	VAR_020974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020974	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	149	cd04824	189083849,NP_000022
210	122833	Disease	p.Val153Met	VAR_020974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020974	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	167	COG0113	189083849,NP_000022
210	122833	Disease	p.Val153Met	VAR_020974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020974	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	162	cd04823	189083849,NP_000022
210	122833	Disease	p.Val153Met	VAR_020974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020974	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	170	cd00384	189083849,NP_000022
210	122833	Disease	p.Val153Met	VAR_020974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020974	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	199	pfam00490	189083849,NP_000022
210	122833	Disease	p.Arg240Trp	VAR_003635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003635	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	236	cd04824	189083849,NP_000022
210	122833	Disease	p.Arg240Trp	VAR_003635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003635	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	258	COG0113	189083849,NP_000022
210	122833	Disease	p.Arg240Trp	VAR_003635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003635	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	263	cd04823	189083849,NP_000022
210	122833	Disease	p.Arg240Trp	VAR_003635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003635	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	265	cd00384	189083849,NP_000022
210	122833	Disease	p.Arg240Trp	VAR_003635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003635	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	323	pfam00490	189083849,NP_000022
210	122833	Disease	p.Ala274Thr	VAR_003636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003636	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	270	cd04824	189083849,NP_000022
210	122833	Disease	p.Ala274Thr	VAR_003636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003636	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	292	COG0113	189083849,NP_000022
210	122833	Disease	p.Ala274Thr	VAR_003636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003636	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	296	cd04823	189083849,NP_000022
210	122833	Disease	p.Ala274Thr	VAR_003636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003636	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	299	cd00384	189083849,NP_000022
210	122833	Disease	p.Ala274Thr	VAR_003636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003636	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	361	pfam00490	189083849,NP_000022
210	122833	Disease	p.Val275Met	VAR_003637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003637	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	271	cd04824	189083849,NP_000022
210	122833	Disease	p.Val275Met	VAR_003637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003637	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	293	COG0113	189083849,NP_000022
210	122833	Disease	p.Val275Met	VAR_003637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003637	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	297	cd04823	189083849,NP_000022
210	122833	Disease	p.Val275Met	VAR_003637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003637	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	300	cd00384	189083849,NP_000022
210	122833	Disease	p.Val275Met	VAR_003637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003637	- Acute hepatic porphyria (AHP) [MIM:612740]	SWISS	362	pfam00490	189083849,NP_000022
212	20141346	Disease	p.Asp159Tyr	VAR_018604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018604	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	19	COG0156	83977442,NP_000023
212	20141346	Disease	p.Tyr199His	VAR_012334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012334	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	9	cd00609	83977442,NP_000023
212	20141346	Disease	p.Tyr199His	VAR_012334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012334	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	11	pfam00155	83977442,NP_000023
212	20141346	Disease	p.Tyr199His	VAR_012334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012334	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	11	cd06454	83977442,NP_000023
212	20141346	Disease	p.Tyr199His	VAR_012334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012334	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	55	COG0520	83977442,NP_000023
212	20141346	Disease	p.Tyr199His	VAR_012334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012334	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	93	COG0156	83977442,NP_000023
212	20141346	Disease	p.Arg204Gln	VAR_012335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012335	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	14	cd00609	83977442,NP_000023
212	20141346	Disease	p.Arg204Gln	VAR_012335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012335	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	16	pfam00155	83977442,NP_000023
212	20141346	Disease	p.Arg204Gln	VAR_012335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012335	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	16	cd06454	83977442,NP_000023
212	20141346	Disease	p.Arg204Gln	VAR_012335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012335	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	60	COG0520	83977442,NP_000023
212	20141346	Disease	p.Arg204Gln	VAR_012335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012335	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	98	COG0156	83977442,NP_000023
212	20141346	Disease	p.Thr388Ser	VAR_000562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000562	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	319	cd00609	83977442,NP_000023
212	20141346	Disease	p.Thr388Ser	VAR_000562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000562	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	297	pfam00155	83977442,NP_000023
212	20141346	Disease	p.Thr388Ser	VAR_000562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000562	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	238	cd06454	83977442,NP_000023
212	20141346	Disease	p.Thr388Ser	VAR_000562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000562	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	285	COG0520	83977442,NP_000023
212	20141346	Disease	p.Thr388Ser	VAR_000562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000562	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	219	pfam00266	83977442,NP_000023
212	20141346	Disease	p.Thr388Ser	VAR_000562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000562	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	242	cd01494	83977442,NP_000023
212	20141346	Disease	p.Thr388Ser	VAR_000562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000562	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	358	COG0156	83977442,NP_000023
212	20141346	Disease	p.Arg411Cys	VAR_000563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000563	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	361	cd00609	83977442,NP_000023
212	20141346	Disease	p.Arg411Cys	VAR_000563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000563	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	344	pfam00155	83977442,NP_000023
212	20141346	Disease	p.Arg411Cys	VAR_000563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000563	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	262	cd06454	83977442,NP_000023
212	20141346	Disease	p.Arg411Cys	VAR_000563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000563	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	330	COG0520	83977442,NP_000023
212	20141346	Disease	p.Arg411Cys	VAR_000563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000563	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	259	pfam00266	83977442,NP_000023
212	20141346	Disease	p.Arg411Cys	VAR_000563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000563	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	382	COG0156	83977442,NP_000023
212	20141346	Disease	p.Arg448Gln	VAR_012336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012336	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	410	cd00609	83977442,NP_000023
212	20141346	Disease	p.Arg448Gln	VAR_012336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012336	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	388	pfam00155	83977442,NP_000023
212	20141346	Disease	p.Arg448Gln	VAR_012336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012336	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	303	cd06454	83977442,NP_000023
212	20141346	Disease	p.Arg448Gln	VAR_012336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012336	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	425	COG0520	83977442,NP_000023
212	20141346	Disease	p.Arg448Gln	VAR_012336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012336	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	309	pfam00266	83977442,NP_000023
212	20141346	Disease	p.Arg448Gln	VAR_012336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012336	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	426	COG0156	83977442,NP_000023
212	20141346	Disease	p.Arg452Cys	VAR_012337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012337	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	414	cd00609	83977442,NP_000023
212	20141346	Disease	p.Arg452Cys	VAR_012337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012337	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	392	pfam00155	83977442,NP_000023
212	20141346	Disease	p.Arg452Cys	VAR_012337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012337	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	307	cd06454	83977442,NP_000023
212	20141346	Disease	p.Arg452Cys	VAR_012337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012337	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	429	COG0520	83977442,NP_000023
212	20141346	Disease	p.Arg452Cys	VAR_012337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012337	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	313	pfam00266	83977442,NP_000023
212	20141346	Disease	p.Arg452Cys	VAR_012337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012337	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	430	COG0156	83977442,NP_000023
212	20141346	Disease	p.Ile476Asn	VAR_000564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000564	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	452	cd00609	83977442,NP_000023
212	20141346	Disease	p.Ile476Asn	VAR_000564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000564	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	422	pfam00155	83977442,NP_000023
212	20141346	Disease	p.Ile476Asn	VAR_000564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000564	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	332	cd06454	83977442,NP_000023
212	20141346	Disease	p.Ile476Asn	VAR_000564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000564	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	470	COG0520	83977442,NP_000023
212	20141346	Disease	p.Ile476Asn	VAR_000564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000564	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	347	pfam00266	83977442,NP_000023
212	20141346	Disease	p.Ile476Asn	VAR_000564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000564	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	460	COG0156	83977442,NP_000023
212	20141346	Disease	p.Arg560His	VAR_018605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018605	- Anemia sideroblastic X-linked (XLSA) [MIM:300751]	SWISS	No Domain	N/A	83977442,NP_000023
213	113576	Disease	p.Leu90Pro	VAR_013011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013011	- Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]	SWISS	65	pfam00273	4502027,NP_000468
213	113576	Disease	p.Leu90Pro	VAR_013011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013011	- Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]	SWISS	78	smart00103	4502027,NP_000468
213	113576	Disease	p.Leu90Pro	VAR_013011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013011	- Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]	SWISS	68	cd00015	4502027,NP_000468
213	113576	Disease	p.Arg242His	VAR_000514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000514	- Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]	SWISS	25	cd00015	4502027,NP_000468
213	113576	Disease	p.Arg242His	VAR_000514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000514	- Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]	SWISS	23	pfam00273	4502027,NP_000468
213	113576	Disease	p.Arg242His	VAR_000514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000514	- Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]	SWISS	31	smart00103	4502027,NP_000468
213	113576	Disease	p.Arg242Pro	VAR_013013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013013	- Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]	SWISS	25	cd00015	4502027,NP_000468
213	113576	Disease	p.Arg242Pro	VAR_013013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013013	- Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]	SWISS	23	pfam00273	4502027,NP_000468
213	113576	Disease	p.Arg242Pro	VAR_013013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013013	- Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]	SWISS	31	smart00103	4502027,NP_000468
5832	6226882	Disease	p.Arg84Gln	VAR_038482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038482	- Mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL) [MIM:612652]	SWISS	11	cd02115	21361368,NP_002851
5832	6226882	Disease	p.Arg84Gln	VAR_038482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038482	- Mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL) [MIM:612652]	SWISS	22	cd04256	21361368,NP_002851
5832	6226882	Disease	p.Arg84Gln	VAR_038482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038482	- Mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL) [MIM:612652]	SWISS	26	pfam00696	21361368,NP_002851
5832	6226882	Disease	p.Arg84Gln	VAR_038482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038482	- Mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL) [MIM:612652]	SWISS	10_G	COG0548	21361368,NP_002851
5832	6226882	Disease	p.Arg84Gln	VAR_038482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038482	- Mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL) [MIM:612652]	SWISS	13	cd04241	21361368,NP_002851
5832	6226882	Disease	p.Arg84Gln	VAR_038482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038482	- Mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL) [MIM:612652]	SWISS	13	cd04242	21361368,NP_002851
5832	6226882	Disease	p.Arg84Gln	VAR_038482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038482	- Mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL) [MIM:612652]	SWISS	6_G	cd04238	21361368,NP_002851
5832	6226882	Disease	p.Arg84Gln	VAR_038482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038482	- Mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL) [MIM:612652]	SWISS	27	COG1608	21361368,NP_002851
5832	6226882	Disease	p.Arg84Gln	VAR_038482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038482	- Mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL) [MIM:612652]	SWISS	12	cd04251	21361368,NP_002851
5832	6226882	Disease	p.Arg84Gln	VAR_038482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038482	- Mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL) [MIM:612652]	SWISS	23	COG0263	21361368,NP_002851
5832	6226882	Disease	p.His784Tyr	VAR_058006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058006	- Mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL) [MIM:612652]	SWISS	No Domain	N/A	21361368,NP_002851
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	51	cd07144	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	44	cd07086	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	43	cd07131	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	41	cd07148	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	27	cd07145	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	65	cd07107	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	44	cd07136	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	65	cd07099	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	66	cd07098	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	68	cd07146	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	70	cd07110	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	56	cd07102	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	54	cd07087	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	54	cd07078	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	167	cd07125	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	68	cd07135	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	85	cd07139	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	44	cd07133	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	104	cd07119	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	44	cd07132	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	103	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	46	cd07104	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	88	cd07142	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	65	cd07120	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	67	cd07103	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	45	cd07137	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	87	cd07138	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	46	cd07100	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	101	cd07083	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	84	cd07085	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	126	COG1012	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	31	cd07084	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	12	cd07106	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	45	cd07134	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	50	cd06534	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	52_G	cd07094	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	25	cd07092	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	25	cd07115	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	25	cd07090	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	12	cd07118	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	66	cd07150	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	52	cd07147	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	78	cd07151	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	65	cd07111	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	67	cd07089	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	67	cd07093	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	70	cd07097	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	66	cd07124	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	44	cd07116	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	43	cd07113	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	52	cd07143	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	61	cd07082	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	44	cd07117	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	81	cd07088	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	49	cd07140	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	46	cd07095	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	44	cd07559	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	50	cd07141	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	67	cd07114	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	59	cd07152	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	65	cd07108	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	46	cd07105	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	64	cd07101	4557303,NP_000373
224	1706379	Disease	p.Ile45Phe	VAR_017510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017510	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	84	cd07112	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	74	cd07144	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	68	cd07086	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	67	cd07131	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	68	cd07148	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	47	cd07145	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	80	cd07107	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	63	cd07136	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	84	cd07099	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	85	cd07098	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	86	cd07146	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	88	cd07110	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	84	cd07102	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	74	cd07087	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	74	cd07078	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	191	cd07125	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	87	cd07135	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	101	cd07139	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	65	cd07133	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	118	cd07119	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	63	cd07132	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	126	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	67	cd07104	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	101	cd07142	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	98	cd07120	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	99	cd07103	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	64	cd07137	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	107	cd07138	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	58	cd07100	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	121	cd07083	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	102	cd07085	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	147	COG1012	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	51	cd07084	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	51	cd07106	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	65	cd07134	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	92	cd06534	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	70	cd07094	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	52	cd07092	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	52	cd07115	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	46	cd07090	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	49	cd07118	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	85	cd07150	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	78	cd07147	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	91_G	cd07151	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	90	cd07111	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	87	cd07089	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	79	cd07093	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	117	cd07097	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	134	cd07124	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	65	cd07116	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	61	cd07113	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	79	cd07143	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	11	cd07149	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	83	cd07082	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	65	cd07117	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	99	cd07088	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	72	cd07140	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	64	cd07095	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	19	cd07130	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	35	cd07091	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	65	cd07559	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	70	cd07141	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	75	cd07114	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	80	cd07152	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	84	cd07108	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	68	cd07105	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	82	cd07101	4557303,NP_000373
224	1706379	Disease	p.Val64Asp	VAR_017511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017511	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	97	cd07112	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	151	cd07144	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	142	cd07086	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	141	cd07131	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	129	cd07148	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	132	cd07145	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	121	cd07107	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	105	cd07136	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	127	cd07099	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	130	cd07098	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	130	cd07146	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	133	cd07110	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	132	cd07102	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	122	cd07087	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	126	cd07078	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	268	cd07125	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	132	cd07135	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	148	cd07139	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	110	cd07133	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	145	cd07119	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	105	cd07132	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	191	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	106	cd07104	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	148	cd07142	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	122	cd07120	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	127	cd07103	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	106	cd07137	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	146	cd07138	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	108	cd07100	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	162	cd07083	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	147	cd07085	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	198	COG1012	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	126	cd07109	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	116	cd07084	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	130	cd07106	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	108	cd07134	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	144	cd06534	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	129	cd07094	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	126	cd07092	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	125	cd07115	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	127	cd07090	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	125	cd07118	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	124	cd07150	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	129	cd07147	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	136	cd07151	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	156	cd07111	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	145	cd07089	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	131	cd07093	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	142	cd07097	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	194	cd07124	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	141	cd07116	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	148	cd07113	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	152	cd07143	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	128	cd07149	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	167	cd07082	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	141	cd07117	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	138	cd07088	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	152	cd07140	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	107	cd07095	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	140	cd07130	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	157	cd07091	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	141	cd07559	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	150	cd07141	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	125	cd07114	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	119	cd07152	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	123	cd07108	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	107	cd07105	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	123	cd07101	4557303,NP_000373
224	1706379	Disease	p.Leu106Arg	VAR_002249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002249	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	128_G	cd07112	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	159	cd07144	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	150	cd07086	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	149	cd07131	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	137	cd07148	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	140	cd07145	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	129	cd07107	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	113	cd07136	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	135	cd07099	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	138	cd07098	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	138	cd07146	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	141	cd07110	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	140	cd07102	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	130	cd07087	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	134	cd07078	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	276	cd07125	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	140	cd07135	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	156	cd07139	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	118	cd07133	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	153	cd07119	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	113	cd07132	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	199	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	114	cd07104	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	156	cd07142	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	130	cd07120	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	135	cd07103	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	114	cd07137	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	154	cd07138	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	116	cd07100	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	170	cd07083	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	155	cd07085	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	206	COG1012	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	134	cd07109	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	124	cd07084	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	138	cd07106	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	116	cd07134	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	152	cd06534	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	137	cd07094	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	134	cd07092	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	133	cd07115	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	135	cd07090	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	133	cd07118	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	132	cd07150	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	137	cd07147	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	144	cd07151	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	164	cd07111	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	153	cd07089	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	139	cd07093	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	150	cd07097	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	202	cd07124	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	149	cd07116	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	156	cd07113	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	160	cd07143	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	136	cd07149	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	175	cd07082	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	149	cd07117	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	146	cd07088	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	160	cd07140	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	115	cd07095	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	148	cd07130	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	165	cd07091	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	149	cd07559	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	158	cd07141	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	133	cd07114	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	127	cd07152	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	131	cd07108	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	115	cd07105	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	131	cd07101	4557303,NP_000373
224	1706379	Disease	p.Pro114Leu	VAR_017512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017512	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	137	cd07112	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	166	cd07144	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	160_G	cd07086	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	156	cd07131	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	144	cd07148	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	147	cd07145	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	136	cd07107	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	120	cd07136	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	142	cd07099	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	145	cd07098	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	145	cd07146	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	148	cd07110	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	147	cd07102	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	137	cd07087	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	143	cd07078	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	283	cd07125	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	147	cd07135	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	163	cd07139	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	125	cd07133	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	160	cd07119	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	120	cd07132	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	207	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	121	cd07104	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	163	cd07142	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	137	cd07120	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	142	cd07103	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	121	cd07137	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	161	cd07138	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	123	cd07100	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	177	cd07083	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	163	cd07085	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	215	COG1012	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	141	cd07109	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	133	cd07084	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	145	cd07106	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	123	cd07134	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	161	cd06534	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	144	cd07094	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	141	cd07092	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	140	cd07115	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	136_G	cd07090	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	140	cd07118	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	139	cd07150	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	147	cd07147	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	151	cd07151	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	171	cd07111	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	160	cd07089	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	146	cd07093	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	157	cd07097	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	209	cd07124	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	156	cd07116	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	163	cd07113	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	170	cd07143	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	143	cd07149	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	182	cd07082	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	156	cd07117	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	153	cd07088	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	167	cd07140	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	122	cd07095	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	158_G	cd07130	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	172	cd07091	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	156	cd07559	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	165	cd07141	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	140	cd07114	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	134	cd07152	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	138	cd07108	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	122	cd07105	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	138	cd07101	4557303,NP_000373
224	1706379	Disease	p.Pro121Leu	VAR_017513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017513	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	144	cd07112	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	232	cd07144	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	232	cd07086	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	225	cd07131	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	210	cd07148	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	217	cd07145	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	201	cd07107	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	186	cd07136	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	210	cd07099	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	219	cd07098	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	211	cd07146	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	214	cd07110	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	219	cd07102	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	206	cd07087	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	218	cd07078	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	349	cd07125	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	212	cd07135	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	232	cd07139	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	188	cd07133	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	226	cd07119	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	184	cd07132	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	285	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	191	cd07104	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	229	cd07142	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	204	cd07120	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	214	cd07103	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	184	cd07137	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	227	cd07138	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	196	cd07100	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	243	cd07083	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	229	cd07085	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	301	COG1012	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	207	cd07109	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	204	cd07084	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	214	cd07106	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	186	cd07134	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	237	cd06534	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	214	cd07094	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	207	cd07092	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	206	cd07115	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	209	cd07090	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	206	cd07118	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	209	cd07150	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	211	cd07147	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	218	cd07151	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	236	cd07111	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	228	cd07089	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	214	cd07093	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	223	cd07097	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	275	cd07124	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	221	cd07116	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	229	cd07113	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	233	cd07143	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	210	cd07149	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	249	cd07082	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	221	cd07117	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	220	cd07088	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	233	cd07140	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	187	cd07095	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	227	cd07130	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	239	cd07091	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	221	cd07559	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	231	cd07141	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	206	cd07114	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	200	cd07152	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	203	cd07108	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	191	cd07105	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	202	cd07101	4557303,NP_000373
224	1706379	Disease	p.Thr184Met	VAR_017514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017514	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	210	cd07112	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	232	cd07144	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	232	cd07086	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	225	cd07131	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	210	cd07148	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	217	cd07145	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	201	cd07107	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	186	cd07136	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	210	cd07099	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	219	cd07098	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	211	cd07146	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	214	cd07110	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	219	cd07102	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	206	cd07087	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	218	cd07078	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	349	cd07125	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	212	cd07135	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	232	cd07139	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	188	cd07133	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	226	cd07119	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	184	cd07132	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	285	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	191	cd07104	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	229	cd07142	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	204	cd07120	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	214	cd07103	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	184	cd07137	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	227	cd07138	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	196	cd07100	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	243	cd07083	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	229	cd07085	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	301	COG1012	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	207	cd07109	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	204	cd07084	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	214	cd07106	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	186	cd07134	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	237	cd06534	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	214	cd07094	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	207	cd07092	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	206	cd07115	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	209	cd07090	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	206	cd07118	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	209	cd07150	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	211	cd07147	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	218	cd07151	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	236	cd07111	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	228	cd07089	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	214	cd07093	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	223	cd07097	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	275	cd07124	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	221	cd07116	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	229	cd07113	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	233	cd07143	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	210	cd07149	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	249	cd07082	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	221	cd07117	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	220	cd07088	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	233	cd07140	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	187	cd07095	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	227	cd07130	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	239	cd07091	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	221	cd07559	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	231	cd07141	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	206	cd07114	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	200	cd07152	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	203	cd07108	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	191	cd07105	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	202	cd07101	4557303,NP_000373
224	1706379	Disease	p.Thr184Arg	VAR_017515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017515	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	210	cd07112	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	233	cd07144	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	233	cd07086	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	226	cd07131	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	211	cd07148	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	218	cd07145	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	202	cd07107	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	187	cd07136	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	211	cd07099	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	220	cd07098	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	212	cd07146	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	215	cd07110	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	220	cd07102	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	207	cd07087	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	219	cd07078	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	350	cd07125	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	213	cd07135	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	233	cd07139	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	189	cd07133	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	227	cd07119	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	185	cd07132	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	286	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	192	cd07104	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	230	cd07142	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	205	cd07120	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	215	cd07103	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	185	cd07137	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	228	cd07138	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	197	cd07100	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	244	cd07083	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	230	cd07085	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	302	COG1012	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	208	cd07109	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	205	cd07084	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	215	cd07106	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	187	cd07134	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	238	cd06534	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	215	cd07094	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	208	cd07092	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	207	cd07115	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	210	cd07090	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	207	cd07118	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	210	cd07150	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	212	cd07147	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	219	cd07151	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	237	cd07111	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	229	cd07089	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	215	cd07093	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	224	cd07097	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	276	cd07124	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	222	cd07116	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	230	cd07113	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	234	cd07143	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	211	cd07149	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	250	cd07082	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	222	cd07117	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	221	cd07088	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	234	cd07140	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	188	cd07095	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	228	cd07130	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	240	cd07091	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	222	cd07559	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	232	cd07141	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	207	cd07114	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	201	cd07152	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	204	cd07108	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	192	cd07105	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	203	cd07101	4557303,NP_000373
224	1706379	Disease	p.Gly185Ala	VAR_017516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017516	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	211	cd07112	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	263	cd07144	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	263	cd07086	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	256	cd07131	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	239	cd07148	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	247	cd07145	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	232	cd07107	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	216	cd07136	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	240	cd07099	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	249	cd07098	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	239	cd07146	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	244	cd07110	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	257	cd07102	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	236	cd07087	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	254	cd07078	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	385	cd07125	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	242	cd07135	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	262	cd07139	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	218	cd07133	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	256	cd07119	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	214	cd07132	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	330	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	223	cd07104	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	260	cd07142	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	234	cd07120	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	246	cd07103	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	214	cd07137	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	257	cd07138	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	226	cd07100	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	279	cd07083	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	259	cd07085	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	339	COG1012	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	237	cd07109	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	236	cd07084	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	244	cd07106	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	216	cd07134	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	273	cd06534	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	243	cd07094	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	237	cd07092	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	237	cd07115	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	241	cd07090	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	237	cd07118	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	239	cd07150	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	239	cd07147	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	250	cd07151	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	266	cd07111	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	258	cd07089	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	248	cd07093	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	255	cd07097	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	311	cd07124	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	251	cd07116	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	260	cd07113	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	264	cd07143	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	238	cd07149	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	280	cd07082	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	251	cd07117	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	250	cd07088	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	264	cd07140	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	218	cd07095	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	257	cd07130	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	270	cd07091	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	251	cd07559	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	262	cd07141	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	236	cd07114	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	230	cd07152	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	233	cd07108	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	221	cd07105	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	232	cd07101	4557303,NP_000373
224	1706379	Disease	p.Cys214Tyr	VAR_002250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002250	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	241	cd07112	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	275	cd07144	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	278	cd07086	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	268	cd07131	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	251	cd07148	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	259	cd07145	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	244	cd07107	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	228	cd07136	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	252	cd07099	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	265	cd07098	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	254	cd07146	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	256	cd07110	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	270	cd07102	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	251	cd07087	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	271	cd07078	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	397	cd07125	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	257	cd07135	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	276	cd07139	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	235	cd07133	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	268	cd07119	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	228	cd07132	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	345	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	235	cd07104	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	272	cd07142	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	246	cd07120	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	259	cd07103	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	230	cd07137	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	274	cd07138	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	239	cd07100	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	291	cd07083	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	271	cd07085	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	357	COG1012	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	249	cd07109	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	253	cd07084	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	258	cd07106	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	228	cd07134	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	290	cd06534	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	256	cd07094	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	249	cd07092	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	249	cd07115	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	253	cd07090	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	249	cd07118	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	251	cd07150	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	255	cd07147	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	262	cd07151	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	278	cd07111	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	273	cd07089	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	260	cd07093	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	267	cd07097	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	323	cd07124	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	265	cd07116	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	272	cd07113	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	276	cd07143	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	251	cd07149	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	292	cd07082	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	263	cd07117	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	262	cd07088	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	276	cd07140	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	231	cd07095	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	272	cd07130	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	283	cd07091	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	268	cd07559	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	275	cd07141	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	248	cd07114	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	242	cd07152	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	246	cd07108	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	233	cd07105	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	244	cd07101	4557303,NP_000373
224	1706379	Disease	p.Cys226Trp	VAR_002251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002251	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	254	cd07112	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	277	cd07144	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	280	cd07086	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	270	cd07131	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	253	cd07148	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	261	cd07145	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	246	cd07107	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	230	cd07136	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	254	cd07099	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	267	cd07098	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	256	cd07146	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	258	cd07110	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	272	cd07102	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	253	cd07087	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	273	cd07078	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	399	cd07125	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	259	cd07135	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	278	cd07139	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	237	cd07133	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	270	cd07119	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	230	cd07132	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	347	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	237	cd07104	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	274	cd07142	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	248	cd07120	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	261	cd07103	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	232	cd07137	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	276	cd07138	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	241	cd07100	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	293	cd07083	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	273	cd07085	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	359	COG1012	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	251	cd07109	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	255	cd07084	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	260	cd07106	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	230	cd07134	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	292	cd06534	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	258	cd07094	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	251	cd07092	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	251	cd07115	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	255	cd07090	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	251	cd07118	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	253	cd07150	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	257	cd07147	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	264	cd07151	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	280	cd07111	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	275	cd07089	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	262	cd07093	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	269	cd07097	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	325	cd07124	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	267	cd07116	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	274	cd07113	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	278	cd07143	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	253	cd07149	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	294	cd07082	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	265	cd07117	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	264	cd07088	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	278	cd07140	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	233	cd07095	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	274	cd07130	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	285	cd07091	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	270	cd07559	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	277	cd07141	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	250	cd07114	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	244	cd07152	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	248	cd07108	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	235	cd07105	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	246	cd07101	4557303,NP_000373
224	1706379	Disease	p.Arg228Cys	VAR_017517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017517	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	256	cd07112	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	286	cd07144	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	289	cd07086	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	279	cd07131	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	262	cd07148	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	271	cd07145	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	256	cd07107	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	239	cd07136	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	263	cd07099	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	276	cd07098	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	265	cd07146	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	267	cd07110	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	282	cd07102	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	262	cd07087	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	284	cd07078	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	408	cd07125	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	268	cd07135	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	287	cd07139	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	246	cd07133	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	279	cd07119	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	239	cd07132	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	357	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	246	cd07104	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	283	cd07142	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	257	cd07120	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	270	cd07103	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	242	cd07137	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	285	cd07138	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	250	cd07100	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	302	cd07083	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	282	cd07085	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	368	COG1012	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	260	cd07109	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	264	cd07084	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	269	cd07106	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	239	cd07134	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	303	cd06534	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	267	cd07094	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	260	cd07092	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	260	cd07115	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	264	cd07090	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	260	cd07118	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	262	cd07150	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	266	cd07147	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	273	cd07151	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	289	cd07111	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	284	cd07089	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	271	cd07093	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	278	cd07097	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	334	cd07124	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	279	cd07116	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	283	cd07113	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	287	cd07143	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	262	cd07149	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	303	cd07082	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	274	cd07117	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	273	cd07088	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	287	cd07140	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	242	cd07095	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	283	cd07130	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	294	cd07091	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	279	cd07559	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	286	cd07141	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	259	cd07114	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	253	cd07152	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	258	cd07108	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	244	cd07105	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	255	cd07101	4557303,NP_000373
224	1706379	Disease	p.Cys237Tyr	VAR_017518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017518	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	265	cd07112	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	294	cd07144	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	297	cd07086	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	287	cd07131	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	270	cd07148	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	279	cd07145	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	265	cd07107	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	247	cd07136	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	271	cd07099	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	284	cd07098	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	273	cd07146	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	275	cd07110	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	290	cd07102	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	271	cd07087	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	292	cd07078	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	416	cd07125	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	276	cd07135	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	296	cd07139	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	254	cd07133	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	287	cd07119	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	247	cd07132	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	365	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	254	cd07104	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	291	cd07142	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	265	cd07120	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	278	cd07103	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	250	cd07137	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	293	cd07138	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	258	cd07100	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	310	cd07083	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	290	cd07085	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	376	COG1012	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	268	cd07109	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	272	cd07084	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	282_G	cd07106	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	247	cd07134	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	311	cd06534	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	275	cd07094	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	268	cd07092	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	268	cd07115	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	272	cd07090	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	268	cd07118	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	270	cd07150	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	274	cd07147	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	281	cd07151	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	297	cd07111	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	292	cd07089	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	279	cd07093	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	286	cd07097	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	342	cd07124	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	287	cd07116	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	291	cd07113	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	295	cd07143	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	270	cd07149	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	311	cd07082	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	282	cd07117	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	281	cd07088	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	295	cd07140	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	250	cd07095	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	294_G	cd07130	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	302	cd07091	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	287	cd07559	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	294	cd07141	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	267	cd07114	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	261	cd07152	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	266	cd07108	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	252	cd07105	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	263	cd07101	4557303,NP_000373
224	1706379	Disease	p.Asp245Asn	VAR_002252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002252	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	273	cd07112	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	315	cd07144	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	318	cd07086	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	308	cd07131	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	291	cd07148	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	300	cd07145	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	286	cd07107	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	268	cd07136	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	292	cd07099	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	305	cd07098	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	294	cd07146	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	295_G	cd07110	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	311	cd07102	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	293	cd07087	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	318	cd07078	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	439	cd07125	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	297	cd07135	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	317	cd07139	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	275	cd07133	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	308	cd07119	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	268	cd07132	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	390	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	275	cd07104	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	312	cd07142	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	285_G	cd07120	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	299	cd07103	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	271	cd07137	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	314	cd07138	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	280	cd07100	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	331	cd07083	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	313	cd07085	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	405	COG1012	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	289	cd07109	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	298	cd07084	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	298	cd07106	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	268	cd07134	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	337	cd06534	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	296	cd07094	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	289	cd07092	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	289	cd07115	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	293	cd07090	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	289	cd07118	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	291	cd07150	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	295	cd07147	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	302	cd07151	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	318	cd07111	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	313	cd07089	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	300	cd07093	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	307	cd07097	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	363	cd07124	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	308	cd07116	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	312	cd07113	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	316	cd07143	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	291	cd07149	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	332	cd07082	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	303	cd07117	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	302	cd07088	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	316	cd07140	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	272	cd07095	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	308	cd07130	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	323	cd07091	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	308	cd07559	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	320	cd07141	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	288	cd07114	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	282	cd07152	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	287	cd07108	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	273	cd07105	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	283_G	cd07101	4557303,NP_000373
224	1706379	Disease	p.Lys266Asn	VAR_017519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017519	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	294	cd07112	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	333	cd07144	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	336	cd07086	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	322	cd07131	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	305	cd07148	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	314	cd07145	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	301	cd07107	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	281	cd07136	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	308	cd07099	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	325	cd07098	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	308	cd07146	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	304	cd07110	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	319	cd07102	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	309	cd07087	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	334	cd07078	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	449	cd07125	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	316	cd07135	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	331	cd07139	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	288	cd07133	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	320	cd07119	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	282	cd07132	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	415	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	289	cd07104	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	326	cd07142	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	294	cd07120	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	319	cd07103	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	285	cd07137	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	329	cd07138	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	295	cd07100	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	346	cd07083	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	327	cd07085	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	423	COG1012	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	306	cd07109	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	324	cd07084	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	317	cd07106	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	284	cd07134	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	350	cd06534	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	310	cd07094	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	304	cd07092	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	303	cd07115	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	308	cd07090	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	303	cd07118	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	303	cd07150	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	313	cd07147	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	318_G	cd07151	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	332	cd07111	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	322	cd07089	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	309	cd07093	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	321	cd07097	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	378	cd07124	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	322	cd07116	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	326	cd07113	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	334	cd07143	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	305	cd07149	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	359	cd07082	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	317	cd07117	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	319	cd07088	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	330	cd07140	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	281	cd07095	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	325	cd07130	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	338	cd07091	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	322	cd07559	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	332_G	cd07141	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	299	cd07114	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	296	cd07152	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	301	cd07108	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	293	cd07105	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	292	cd07101	4557303,NP_000373
224	1706379	Disease	p.Tyr279Asn	VAR_017520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017520	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	308	cd07112	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	379	cd07144	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	396	cd07086	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	382	cd07131	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	345	cd07148	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	356	cd07145	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	347	cd07107	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	320	cd07136	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	352	cd07099	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	373	cd07098	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	347	cd07146	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	356	cd07110	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	381	cd07102	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	364	cd07087	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	394	cd07078	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	502	cd07125	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	365	cd07135	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	378	cd07139	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	335	cd07133	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	371	cd07119	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	321	cd07132	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	472	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	328	cd07104	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	369	cd07142	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	348	cd07120	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	373	cd07103	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	325	cd07137	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	374	cd07138	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	344	cd07100	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	391	cd07083	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	384	cd07085	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	490	COG1012	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	354	cd07109	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	364	cd07084	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	368	cd07106	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	325	cd07134	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	405	cd06534	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	349	cd07094	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	349	cd07092	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	349	cd07115	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	358	cd07090	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	349	cd07118	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	344	cd07150	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	356	cd07147	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	355	cd07151	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	374	cd07111	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	375	cd07089	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	369	cd07093	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	368	cd07097	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	426	cd07124	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	370	cd07116	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	368	cd07113	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	372	cd07143	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	349	cd07149	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	391	cd07082	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	363	cd07117	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	366	cd07088	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	373	cd07140	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	332	cd07095	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	382	cd07130	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	388	cd07091	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	370	cd07559	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	372	cd07141	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	357	cd07114	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	335	cd07152	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	349	cd07108	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	343	cd07105	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	343	cd07101	4557303,NP_000373
224	1706379	Disease	p.Pro315Ser	VAR_002254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002254	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	354	cd07112	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	392	cd07144	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	411	cd07086	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	396	cd07131	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	358	cd07148	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	371	cd07145	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	360	cd07107	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	334	cd07136	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	365	cd07099	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	386	cd07098	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	360	cd07146	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	369	cd07110	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	394	cd07102	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	386	cd07087	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	413	cd07078	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	515	cd07125	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	382	cd07135	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	391	cd07139	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	348	cd07133	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	384	cd07119	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	334	cd07132	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	489	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	341	cd07104	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	382	cd07142	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	361	cd07120	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	387	cd07103	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	338	cd07137	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	387	cd07138	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	359	cd07100	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	404	cd07083	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	397	cd07085	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	507	COG1012	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	367	cd07109	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	383	cd07084	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	381	cd07106	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	338	cd07134	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	430	cd06534	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	362	cd07094	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	362	cd07092	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	362	cd07115	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	371	cd07090	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	362	cd07118	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	357	cd07150	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	369	cd07147	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	368	cd07151	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	387	cd07111	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	388	cd07089	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	383	cd07093	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	381	cd07097	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	439	cd07124	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	383	cd07116	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	381	cd07113	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	385	cd07143	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	362	cd07149	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	408	cd07082	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	376	cd07117	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	379	cd07088	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	386	cd07140	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	347	cd07095	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	397	cd07130	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	401	cd07091	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	383	cd07559	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	385	cd07141	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	376	cd07114	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	348	cd07152	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	362	cd07108	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	356	cd07105	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	356	cd07101	4557303,NP_000373
224	1706379	Disease	p.Met328Ile	VAR_017521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017521	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	367	cd07112	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	429	cd07144	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	449	cd07086	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	434	cd07131	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	395	cd07148	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	408	cd07145	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	397	cd07107	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	372	cd07136	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	402	cd07099	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	425	cd07098	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	398	cd07146	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	406	cd07110	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	431	cd07102	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	424	cd07087	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	458	cd07078	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	554	cd07125	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	420	cd07135	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	433	cd07139	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	385	cd07133	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	423	cd07119	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	371	cd07132	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	535	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	378	cd07104	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	419	cd07142	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	398	cd07120	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	432	cd07103	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	375	cd07137	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	430	cd07138	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	396	cd07100	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	443	cd07083	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	433_G	cd07085	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	551	COG1012	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	404	cd07109	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	428	cd07084	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	419	cd07106	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	375	cd07134	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	480	cd06534	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	399	cd07094	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	399	cd07092	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	399	cd07115	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	408	cd07090	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	399	cd07118	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	394	cd07150	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	406	cd07147	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	405	cd07151	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	424	cd07111	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	428	cd07089	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	420	cd07093	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	418	cd07097	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	476	cd07124	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	420	cd07116	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	418	cd07113	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	422	cd07143	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	399	cd07149	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	445	cd07082	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	413	cd07117	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	416	cd07088	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	425	cd07140	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	384	cd07095	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	435	cd07130	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	440	cd07091	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	420	cd07559	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	422	cd07141	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	413	cd07114	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	385	cd07152	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	399	cd07108	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	393	cd07105	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	393	cd07101	4557303,NP_000373
224	1706379	Disease	p.Ser365Leu	VAR_002255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002255	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	404	cd07112	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	450	cd07144	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	504	cd07086	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	456	cd07131	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	416	cd07148	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	429	cd07145	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	418	cd07107	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	393	cd07136	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	423	cd07099	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	447	cd07098	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	419	cd07146	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	427	cd07110	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	457	cd07102	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	446	cd07087	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	483	cd07078	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	581	cd07125	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	446	cd07135	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	454	cd07139	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	406	cd07133	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	444	cd07119	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	392	cd07132	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	558	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	399	cd07104	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	440	cd07142	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	419	cd07120	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	454	cd07103	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	396	cd07137	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	451	cd07138	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	418	cd07100	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	467	cd07083	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	441	cd07085	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	577	COG1012	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	425	cd07109	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	453	cd07084	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	440	cd07106	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	396	cd07134	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	509	cd06534	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	420	cd07094	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	420	cd07092	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	420	cd07115	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	429	cd07090	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	420	cd07118	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	415	cd07150	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	427	cd07147	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	426	cd07151	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	445	cd07111	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	449	cd07089	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	441	cd07093	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	439	cd07097	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	506	cd07124	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	441	cd07116	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	439	cd07113	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	444	cd07143	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	420	cd07149	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	468	cd07082	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	430	cd07117	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	459	cd07088	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	446	cd07140	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	405	cd07095	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	461	cd07091	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	441	cd07559	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	443	cd07141	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	434	cd07114	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	406	cd07152	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	420	cd07108	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	414	cd07105	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	414	cd07101	4557303,NP_000373
224	1706379	Disease	p.Asn386Ser	VAR_017522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017522	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	425	cd07112	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	468	cd07144	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	475	cd07131	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	435	cd07148	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	448	cd07145	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	437	cd07107	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	413	cd07136	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	444	cd07099	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	467	cd07098	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	438	cd07146	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	445	cd07110	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	475	cd07102	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	466	cd07087	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	514	cd07078	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	595	cd07125	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	466	cd07135	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	472	cd07139	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	426	cd07133	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	462	cd07119	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	412	cd07132	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	581	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	418	cd07104	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	458	cd07142	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	437	cd07120	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	475	cd07103	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	416	cd07137	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	468	cd07138	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	436	cd07100	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	487	cd07083	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	474	cd07085	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	602	COG1012	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	444	cd07109	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	496	cd07084	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	460	cd07106	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	416	cd07134	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	536	cd06534	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	439	cd07094	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	438	cd07092	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	438	cd07115	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	447	cd07090	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	438	cd07118	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	434	cd07150	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	446	cd07147	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	445	cd07151	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	463	cd07111	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	468	cd07089	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	459	cd07093	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	458	cd07097	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	520	cd07124	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	459	cd07116	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	457	cd07113	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	461	cd07143	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	439	cd07149	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	487	cd07082	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	452	cd07117	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	464	cd07140	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	424	cd07095	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	479	cd07091	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	459	cd07559	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	463	cd07141	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	452	cd07114	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	425	cd07152	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	438	cd07108	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	435	cd07105	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	435	cd07101	4557303,NP_000373
224	1706379	Disease	p.Gly406Arg	VAR_017523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017523	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	443	cd07112	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	473	cd07144	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	480	cd07131	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	440	cd07148	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	456	cd07145	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	442	cd07107	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	418	cd07136	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	451	cd07099	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	472	cd07098	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	443	cd07146	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	450	cd07110	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	481	cd07102	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	471	cd07087	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	519	cd07078	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	606	cd07125	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	471	cd07135	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	477	cd07139	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	431	cd07133	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	470	cd07119	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	417	cd07132	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	589	pfam00171	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	424	cd07104	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	463	cd07142	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	442	cd07120	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	480	cd07103	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	421	cd07137	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	489	cd07138	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	444	cd07100	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	492	cd07083	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	481	cd07085	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	610	COG1012	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	501	cd07084	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	465	cd07106	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	421	cd07134	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	544	cd06534	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	444	cd07094	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	443	cd07092	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	443	cd07115	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	452	cd07090	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	443	cd07118	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	439	cd07150	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	451	cd07147	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	450	cd07151	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	468	cd07111	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	473	cd07089	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	464	cd07093	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	464	cd07116	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	462	cd07113	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	481	cd07143	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	492	cd07082	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	457	cd07117	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	469	cd07140	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	484	cd07091	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	464	cd07559	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	468	cd07141	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	458	cd07114	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	430	cd07152	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	446	cd07108	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	441	cd07105	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	440	cd07101	4557303,NP_000373
224	1706379	Disease	p.His411Tyr	VAR_017524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017524	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	449	cd07112	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	474	cd07144	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	481	cd07131	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	441	cd07148	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	457	cd07145	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	419	cd07136	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	452	cd07099	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	473	cd07098	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	444	cd07146	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	451	cd07110	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	482	cd07102	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	472	cd07087	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	520	cd07078	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	607	cd07125	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	472	cd07135	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	478	cd07139	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	432	cd07133	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	471	cd07119	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	418	cd07132	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	590	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	425	cd07104	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	464	cd07142	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	443	cd07120	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	481	cd07103	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	422	cd07137	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	445	cd07100	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	493	cd07083	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	484	cd07085	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	611	COG1012	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	502	cd07084	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	466	cd07106	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	422	cd07134	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	545	cd06534	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	445	cd07094	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	444	cd07092	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	444	cd07115	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	453	cd07090	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	444	cd07118	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	440	cd07150	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	452	cd07147	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	451	cd07151	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	469	cd07111	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	474	cd07089	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	465	cd07093	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	465	cd07116	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	463	cd07113	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	482	cd07143	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	493	cd07082	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	458	cd07117	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	470	cd07140	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	485	cd07091	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	465	cd07559	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	469	cd07141	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	459	cd07114	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	431	cd07152	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	447	cd07108	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	442	cd07105	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	441	cd07101	4557303,NP_000373
224	1706379	Disease	p.Gly412Arg	VAR_002256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002256	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	450	cd07112	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	477	cd07144	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	487	cd07131	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	444	cd07148	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	460	cd07145	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	422	cd07136	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	455	cd07099	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	487	cd07098	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	448	cd07146	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	454	cd07110	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	485	cd07102	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	475	cd07087	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	523	cd07078	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	610	cd07125	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	475	cd07135	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	481	cd07139	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	436	cd07133	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	481	cd07119	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	421	cd07132	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	595	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	429	cd07104	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	467	cd07142	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	446	cd07120	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	485	cd07103	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	425	cd07137	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	454	cd07100	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	507	cd07083	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	487	cd07085	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	614	COG1012	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	505	cd07084	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	469	cd07106	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	425	cd07134	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	548	cd06534	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	448	cd07094	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	447	cd07092	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	447	cd07115	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	456	cd07090	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	447	cd07118	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	443	cd07150	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	455	cd07147	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	454	cd07151	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	472	cd07111	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	478	cd07089	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	468	cd07093	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	468	cd07116	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	466	cd07113	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	496	cd07082	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	461	cd07117	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	473	cd07140	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	488	cd07091	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	468	cd07559	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	472	cd07141	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	462	cd07114	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	436	cd07152	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	448	cd07108	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	445	cd07105	4557303,NP_000373
224	1706379	Disease	p.Ser415Asn	VAR_017525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017525	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	453	cd07112	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	491	cd07131	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	448	cd07148	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	464	cd07145	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	426	cd07136	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	459	cd07099	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	452	cd07146	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	458	cd07110	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	489	cd07102	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	479	cd07087	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	527	cd07078	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	614	cd07125	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	479	cd07135	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	485	cd07139	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	440	cd07133	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	425	cd07132	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	601	pfam00171	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	433	cd07104	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	471	cd07142	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	450	cd07120	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	489	cd07103	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	429	cd07137	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	618	COG1012	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	509	cd07084	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	473	cd07106	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	429	cd07134	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	552	cd06534	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	452	cd07094	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	451	cd07092	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	451	cd07115	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	460	cd07090	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	451	cd07118	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	447	cd07150	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	459	cd07147	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	458	cd07151	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	474	cd07111	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	482	cd07089	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	472	cd07093	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	472	cd07116	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	470	cd07113	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	500	cd07082	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	465	cd07117	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	477	cd07140	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	472	cd07559	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	476	cd07141	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	466	cd07114	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	440	cd07152	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	452	cd07108	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	449	cd07105	4557303,NP_000373
224	1706379	Disease	p.Phe419Ser	VAR_017526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017526	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	457	cd07112	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	452	cd07148	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	468	cd07145	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	430	cd07136	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	463	cd07099	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	452_G	cd07146	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	462	cd07110	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	493	cd07102	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	483	cd07087	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	531	cd07078	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	627	cd07125	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	483	cd07135	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	489	cd07139	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	444	cd07133	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	429	cd07132	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	475	cd07142	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	454	cd07120	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	493	cd07103	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	433	cd07137	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	634	COG1012	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	473_G	cd07106	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	433	cd07134	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	556	cd06534	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	456	cd07094	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	455	cd07092	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	455	cd07115	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	462_G	cd07090	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	455	cd07118	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	451	cd07150	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	463	cd07147	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	478	cd07111	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	486	cd07089	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	476	cd07093	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	476	cd07116	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	470_G	cd07113	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	504	cd07082	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	469	cd07117	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	481	cd07140	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	476	cd07559	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	480	cd07141	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	470	cd07114	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	444	cd07152	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	456	cd07108	4557303,NP_000373
224	1706379	Disease	p.Arg423His	VAR_017527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017527	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	453	cd07105	4557303,NP_000373
224	1706379	Disease	p.Lys447Glu	VAR_017528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017528	- Sjoegren-Larsson syndrome (SLS) [MIM:270200]	SWISS	452	cd07136	4557303,NP_000373
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	291	cd07130	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	297	cd07086	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	342	cd07124	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	335	cd07123	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	311	cd07082	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	281	cd07088	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	294	cd07144	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	282	cd07117	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	272	cd07084	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	258	cd07100	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	274	cd07147	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	287	cd07559	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	409	COG4230	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	278	cd07103	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	292	cd07089	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	261	cd07152	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	268	cd07092	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	272	cd07090	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	268	cd07109	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	297	cd07111	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	263	cd07101	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	271	cd07099	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	275	cd07094	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	270	cd07148	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	290	cd07102	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	268	cd07118	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	273	cd07112	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	287	cd07119	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	293	cd07138	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	275	cd07110	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	279	cd07145	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	266	cd07108	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	286	cd07097	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	365	pfam00171	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	265	cd07120	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	302	cd07091	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	294	cd07141	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	281	cd07151	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	295	cd07143	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	292	cd07078	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	271	cd07087	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	247	cd07134	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	291	cd07142	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	291	cd07113	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	270	cd07149	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	287	cd07131	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	311	cd06534	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	254	cd07133	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	267	cd07114	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	277	cd07106	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	273	cd07146	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	376	COG1012	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	287	cd07116	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	290	cd07085	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	284	cd07098	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	270	cd07150	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	295	cd07140	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	276	cd07135	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	310	cd07083	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	416	cd07125	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	279	cd07093	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	268	cd07115	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	265	cd07107	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	293	cd07126	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	254	cd07104	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	252	cd07105	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	250	cd07095	25777736,NP_733844|25777734,NP_003739
8659	62511241	Disease	p.Ser352Leu	VAR_002260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002260	- Hyperprolinemia type 2 (HP-2) [MIM:239510]	SWISS	296	cd07139	25777736,NP_733844|25777734,NP_003739
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	29	cd07151	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	34	cd07086	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	34	cd07131	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	33	cd07139	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	34	cd07138	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	37	cd07126	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	34	cd07130	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	16	cd07120	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	16	cd07090	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	16	cd07110	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	16	cd07107	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	16	cd07092	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	16	cd07108	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	16	cd07114	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	16	cd07089	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	16	cd07106	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	16	cd07103	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	16	cd07093	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	16	cd07109	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	16	cd07115	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	15	cd07101	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	16	cd07099	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	15	cd07098	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	160	cd07125	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	41	cd07141	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	43	cd07143	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	10	cd07152	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	52	cd07083	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	71	cd07123	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	56	cd07111	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	42	cd07144	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	32	cd07119	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	35	cd07117	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	34	cd07113	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	32	cd07088	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	70	COG1012	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	35	cd07085	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	37	cd07128	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	36	cd07097	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	81	cd07124	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	38	cd07142	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	39	cd07091	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	40	pfam00171	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	154	COG4230	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	15	cd07102	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	16	cd07118	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	49	cd07082	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	40	cd07140	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	21	cd07112	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	18	cd07148	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	18	cd07145	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	18	cd07094	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	18	cd07147	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	18	cd07150	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	18	cd07149	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	18	cd07146	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	35	cd07116	4507229,NP_001071
7915	7531278	Disease	p.Cys93Phe	VAR_026199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026199	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	35	cd07559	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	113	cd07151	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	119	cd07086	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	118	cd07131	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	122	cd07139	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	120	cd07138	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	136	cd07126	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	117	cd07130	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	100	cd07120	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	102	cd07090	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	110	cd07110	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	99	cd07107	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	103	cd07092	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	100	cd07108	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	102	cd07114	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	112	cd07089	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	105	cd07106	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	101	cd07103	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	105	cd07093	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	104	cd07109	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	103	cd07115	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	97_G	cd07101	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	102	cd07099	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	109	cd07098	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	85	cd07132	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	82	cd07134	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	97	cd07087	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	90	cd07078	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	253_G	cd07125	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	85	cd07136	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	128	cd07141	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	130	cd07143	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	95	cd07152	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	137	cd07083	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	158	cd07123	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	110	cd07135	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	136_G	cd07111	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	129	cd07144	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	120	cd07119	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	119	cd07117	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	120	cd07113	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	115	cd07088	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	83	cd07105	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	82	cd07104	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	79	cd07095	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	167	COG1012	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	130	cd07085	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	120	cd07128	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	119	cd07097	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	165	cd07124	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	125	cd07142	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	126	cd07091	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	150	pfam00171	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	239	COG4230	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	101	cd07102	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	102	cd07118	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	87_G	cd07133	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	108	cd06534	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	86	cd07084	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	83	cd07100	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	86	cd07137	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	83	cd07129	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	138	cd07082	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	126	cd07140	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	107	cd07112	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	102	cd07148	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	102	cd07145	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	102	cd07094	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	102	cd07147	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	101	cd07150	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	101	cd07149	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	102	cd07146	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	119	cd07116	4507229,NP_001071
7915	7531278	Disease	p.Gly176Arg	VAR_026200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026200	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	118	cd07559	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	160	cd07151	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	166	cd07086	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	165	cd07131	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	172	cd07139	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	170	cd07138	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	178	cd07126	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	164	cd07130	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	146	cd07120	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	151	cd07090	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	157	cd07110	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	145	cd07107	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	150	cd07092	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	147	cd07108	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	149	cd07114	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	169	cd07089	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	154	cd07106	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	151	cd07103	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	155	cd07093	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	150	cd07109	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	149	cd07115	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	147	cd07101	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	151	cd07099	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	154	cd07098	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	129	cd07132	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	132	cd07134	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	146	cd07087	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	152	cd07078	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	292	cd07125	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	129	cd07136	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	174	cd07141	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	176	cd07143	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	143	cd07152	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	186	cd07083	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	206	cd07123	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	156	cd07135	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	180	cd07111	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	175	cd07144	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	169	cd07119	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	165	cd07117	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	172	cd07113	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	162	cd07088	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	131	cd07105	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	130	cd07104	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	131	cd07095	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	224	COG1012	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	172	cd07085	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	182	cd07128	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	166	cd07097	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	218	cd07124	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	172	cd07142	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	181	cd07091	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	216	pfam00171	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	285	COG4230	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	156	cd07102	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	149	cd07118	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	134	cd07133	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	170	cd06534	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	142	cd07084	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	132	cd07100	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	130	cd07137	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	145	cd07129	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	191	cd07082	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	176	cd07140	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	153	cd07112	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	153	cd07148	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	156	cd07145	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	153	cd07094	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	153	cd07147	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	148	cd07150	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	152	cd07149	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	154	cd07146	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	165	cd07116	4507229,NP_001071
7915	7531278	Disease	p.Cys223Tyr	VAR_026201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026201	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	165	cd07559	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	170	cd07151	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	176	cd07086	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	175	cd07131	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	182	cd07139	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	180	cd07138	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	188	cd07126	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	174	cd07130	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	156	cd07120	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	161	cd07090	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	167	cd07110	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	155	cd07107	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	160	cd07092	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	157	cd07108	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	159	cd07114	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	179	cd07089	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	164	cd07106	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	161	cd07103	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	165	cd07093	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	160	cd07109	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	159	cd07115	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	157	cd07101	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	161	cd07099	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	164	cd07098	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	139	cd07132	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	142	cd07134	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	156	cd07087	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	162	cd07078	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	302	cd07125	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	139	cd07136	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	184	cd07141	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	186	cd07143	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	153	cd07152	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	196	cd07083	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	216	cd07123	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	166	cd07135	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	190	cd07111	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	185	cd07144	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	179	cd07119	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	175	cd07117	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	182	cd07113	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	172	cd07088	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	141	cd07105	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	141	cd07104	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	141	cd07095	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	235	COG1012	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	182	cd07085	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	192	cd07128	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	176	cd07097	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	228	cd07124	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	182	cd07142	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	191	cd07091	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	227	pfam00171	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	295	COG4230	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	166	cd07102	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	159	cd07118	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	144	cd07133	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	180	cd06534	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	152	cd07084	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	142	cd07100	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	140	cd07137	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	155	cd07129	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	201	cd07082	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	186	cd07140	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	163	cd07112	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	163	cd07148	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	166	cd07145	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	163	cd07094	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	163	cd07147	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	159	cd07150	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	162	cd07149	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	164	cd07146	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	175	cd07116	4507229,NP_001071
7915	7531278	Disease	p.Thr233Met	VAR_026202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026202	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	175	cd07559	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	193	cd07151	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	204	cd07086	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	197	cd07131	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	208	cd07139	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	202	cd07138	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	210	cd07126	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	202	cd07130	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	179	cd07120	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	184	cd07090	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	189	cd07110	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	176	cd07107	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	182	cd07092	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	178	cd07108	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	181	cd07114	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	202	cd07089	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	187	cd07106	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	184	cd07103	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	188	cd07093	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	182	cd07109	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	181	cd07115	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	179	cd07101	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	185	cd07099	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	190	cd07098	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	160	cd07132	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	162_G	cd07134	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	178	cd07087	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	189	cd07078	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	324	cd07125	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	161	cd07136	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	206	cd07141	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	208	cd07143	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	176	cd07152	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	218	cd07083	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	238	cd07123	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	188	cd07135	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	212	cd07111	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	207	cd07144	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	201	cd07119	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	196	cd07117	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	204	cd07113	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	195	cd07088	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	163	cd07105	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	163	cd07104	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	163	cd07095	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	271	COG1012	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	205	cd07085	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	215	cd07128	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	198	cd07097	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	250	cd07124	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	204	cd07142	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	214	cd07091	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	255	pfam00171	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	317	COG4230	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	194	cd07102	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	181	cd07118	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	166	cd07133	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	208	cd06534	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	178	cd07084	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	168	cd07100	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	161	cd07137	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	181	cd07129	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	224	cd07082	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	208	cd07140	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	185	cd07112	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	185	cd07148	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	192	cd07145	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	189	cd07094	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	187	cd07147	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	181	cd07150	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	185	cd07149	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	186	cd07146	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	196	cd07116	4507229,NP_001071
7915	7531278	Disease	p.Asn255Ser	VAR_026203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026203	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	196	cd07559	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	203	cd07151	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	215	cd07086	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	207	cd07131	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	217	cd07139	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	212	cd07138	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	222_G	cd07126	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	212	cd07130	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	189	cd07120	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	194	cd07090	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	199	cd07110	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	186	cd07107	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	192	cd07092	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	188	cd07108	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	191	cd07114	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	213	cd07089	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	199	cd07106	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	199	cd07103	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	199	cd07093	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	192	cd07109	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	191	cd07115	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	189	cd07101	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	195	cd07099	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	204	cd07098	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	164	cd07132	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	167	cd07134	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	183	cd07087	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	202	cd07078	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	334	cd07125	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	171	cd07136	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	216	cd07141	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	218	cd07143	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	185	cd07152	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	228	cd07083	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	249	cd07123	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	198	cd07135	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	221	cd07111	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	217	cd07144	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	211	cd07119	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	206	cd07117	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	214	cd07113	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	205	cd07088	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	176	cd07105	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	176	cd07104	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	172	cd07095	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	286	COG1012	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	214	cd07085	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	219	cd07128	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	208	cd07097	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	260	cd07124	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	214	cd07142	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	224	cd07091	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	269	pfam00171	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	327	COG4230	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	204	cd07102	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	191	cd07118	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	174	cd07133	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	221	cd06534	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	188	cd07084	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	181	cd07100	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	166	cd07137	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	192	cd07129	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	234	cd07082	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	218	cd07140	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	195	cd07112	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	195	cd07148	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	202	cd07145	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	199	cd07094	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	196_G	cd07147	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	194	cd07150	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	195	cd07149	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	196	cd07146	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	206	cd07116	4507229,NP_001071
7915	7531278	Disease	p.Gly268Glu	VAR_026204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026204	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	206	cd07559	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	272	cd07151	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	288	cd07086	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	278	cd07131	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	286	cd07139	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	284	cd07138	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	284_G	cd07126	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	282	cd07130	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	256	cd07120	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	263	cd07090	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	266	cd07110	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	255	cd07107	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	259	cd07092	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	255	cd07108	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	258	cd07114	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	283	cd07089	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	268	cd07106	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	269	cd07103	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	270	cd07093	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	259	cd07109	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	259	cd07115	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	254	cd07101	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	262	cd07099	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	275	cd07098	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	238	cd07132	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	238	cd07134	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	261	cd07087	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	281	cd07078	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	407	cd07125	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	238	cd07136	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	285	cd07141	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	286	cd07143	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	252	cd07152	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	301	cd07083	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	326	cd07123	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	267	cd07135	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	288	cd07111	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	285	cd07144	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	278	cd07119	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	273	cd07117	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	282	cd07113	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	272	cd07088	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	243	cd07105	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	245	cd07104	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	241	cd07095	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	367	COG1012	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	281	cd07085	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	296_G	cd07128	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	277	cd07097	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	333	cd07124	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	282	cd07142	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	293	cd07091	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	356	pfam00171	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	400	COG4230	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	280	cd07102	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	259	cd07118	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	245	cd07133	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	300	cd06534	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	263	cd07084	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	249	cd07100	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	241	cd07137	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	267	cd07129	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	302	cd07082	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	286	cd07140	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	264	cd07112	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	261	cd07148	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	269	cd07145	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	266	cd07094	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	265	cd07147	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	261	cd07150	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	261	cd07149	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	264	cd07146	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	278	cd07116	4507229,NP_001071
7915	7531278	Disease	p.Asn335Lys	VAR_026205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026205	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	278	cd07559	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	318	cd07151	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	338	cd07086	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	324	cd07131	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	333	cd07139	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	331	cd07138	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	326	cd07126	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	332	cd07130	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	302	cd07120	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	310	cd07090	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	312	cd07110	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	303	cd07107	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	306	cd07092	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	303	cd07108	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	306	cd07114	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	329	cd07089	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	319	cd07106	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	321	cd07103	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	316	cd07093	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	308	cd07109	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	305	cd07115	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	302	cd07101	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	310	cd07099	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	327	cd07098	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	284	cd07132	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	286	cd07134	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	311	cd07087	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	336	cd07078	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	455	cd07125	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	283	cd07136	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	331	cd07141	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	332	cd07143	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	298	cd07152	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	348	cd07083	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	375	cd07123	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	318	cd07135	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	334	cd07111	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	335	cd07144	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	324	cd07119	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	319	cd07117	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	328	cd07113	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	321	cd07088	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	295	cd07105	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	291	cd07104	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	289	cd07095	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	425	COG1012	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	329	cd07085	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	343	cd07128	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	323	cd07097	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	380	cd07124	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	328	cd07142	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	340	cd07091	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	419	pfam00171	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	446	COG4230	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	328	cd07102	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	305	cd07118	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	290	cd07133	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	353	cd06534	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	318	cd07084	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	297	cd07100	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	287	cd07137	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	307	cd07129	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	350	cd07082	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	332	cd07140	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	310	cd07112	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	307	cd07148	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	316	cd07145	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	312	cd07094	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	315	cd07147	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	307	cd07150	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	307	cd07149	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	310	cd07146	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	324	cd07116	4507229,NP_001071
7915	7531278	Disease	p.Pro382Leu	VAR_026206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026206	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	324	cd07559	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	318	cd07151	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	338	cd07086	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	324	cd07131	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	333	cd07139	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	331	cd07138	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	326	cd07126	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	332	cd07130	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	302	cd07120	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	310	cd07090	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	312	cd07110	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	303	cd07107	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	306	cd07092	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	303	cd07108	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	306	cd07114	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	329	cd07089	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	319	cd07106	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	321	cd07103	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	316	cd07093	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	308	cd07109	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	305	cd07115	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	302	cd07101	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	310	cd07099	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	327	cd07098	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	284	cd07132	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	286	cd07134	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	311	cd07087	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	336	cd07078	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	455	cd07125	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	283	cd07136	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	331	cd07141	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	332	cd07143	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	298	cd07152	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	348	cd07083	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	375	cd07123	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	318	cd07135	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	334	cd07111	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	335	cd07144	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	324	cd07119	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	319	cd07117	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	328	cd07113	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	321	cd07088	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	295	cd07105	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	291	cd07104	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	289	cd07095	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	425	COG1012	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	329	cd07085	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	343	cd07128	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	323	cd07097	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	380	cd07124	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	328	cd07142	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	340	cd07091	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	419	pfam00171	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	446	COG4230	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	328	cd07102	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	305	cd07118	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	290	cd07133	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	353	cd06534	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	318	cd07084	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	297	cd07100	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	287	cd07137	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	307	cd07129	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	350	cd07082	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	332	cd07140	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	310	cd07112	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	307	cd07148	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	316	cd07145	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	312	cd07094	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	315	cd07147	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	307	cd07150	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	307	cd07149	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	310	cd07146	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	324	cd07116	4507229,NP_001071
7915	7531278	Disease	p.Pro382Gln	VAR_026207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026207	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	324	cd07559	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	345	cd07151	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	371	cd07086	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	357	cd07131	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	360	cd07139	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	358	cd07138	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	353	cd07126	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	359	cd07130	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	331	cd07120	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	338	cd07090	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	339	cd07110	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	330	cd07107	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	334	cd07092	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	332	cd07108	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	334	cd07114	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	356	cd07089	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	348	cd07106	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	350	cd07103	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	343	cd07093	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	335	cd07109	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	332	cd07115	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	329	cd07101	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	337	cd07099	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	355	cd07098	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	309	cd07132	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	313	cd07134	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	341	cd07087	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	367	cd07078	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	483	cd07125	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	308	cd07136	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	358	cd07141	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	359	cd07143	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	325	cd07152	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	376	cd07083	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	405	cd07123	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	348	cd07135	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	361	cd07111	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	362	cd07144	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	351	cd07119	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	346	cd07117	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	355	cd07113	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	348	cd07088	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	322	cd07105	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	318	cd07104	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	317	cd07095	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	463	COG1012	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	356	cd07085	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	370	cd07128	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	350	cd07097	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	407	cd07124	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	356	cd07142	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	368	cd07091	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	449	pfam00171	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	620	COG4230	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	356	cd07102	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	332	cd07118	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	317	cd07133	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	392	cd06534	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	345	cd07084	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	325	cd07100	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	313	cd07137	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	340	cd07129	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	377	cd07082	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	359	cd07140	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	337	cd07112	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	334	cd07148	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	343	cd07145	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	339	cd07094	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	342	cd07147	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	334	cd07150	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	334	cd07149	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	337	cd07146	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	351	cd07116	4507229,NP_001071
7915	7531278	Disease	p.Gly409Asp	VAR_026208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026208	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	351	cd07559	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	420	cd07151	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	466	cd07086	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	450	cd07131	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	448	cd07139	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	445	cd07138	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	447	cd07126	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	447	cd07130	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	413	cd07120	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	423	cd07090	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	421	cd07110	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	412	cd07107	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	414	cd07092	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	414	cd07108	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	428	cd07114	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	443	cd07089	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	434	cd07106	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	448	cd07103	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	435	cd07093	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	419	cd07109	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	414	cd07115	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	408	cd07101	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	417	cd07099	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	441	cd07098	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	386	cd07132	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	390	cd07134	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	440	cd07087	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	477	cd07078	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	569	cd07125	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	387	cd07136	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	437	cd07141	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	437	cd07143	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	400	cd07152	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	461	cd07083	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	495	cd07123	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	440	cd07135	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	439	cd07111	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	444	cd07144	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	438	cd07119	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	428	cd07117	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	433	cd07113	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	431	cd07088	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	408	cd07105	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	393	cd07104	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	399	cd07095	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	571	COG1012	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	449	cd07085	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	433	cd07097	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	491	cd07124	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	434	cd07142	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	455	cd07091	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	552	pfam00171	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	738	COG4230	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	451	cd07102	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	414	cd07118	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	400	cd07133	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	503	cd06534	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	446	cd07084	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	412	cd07100	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	390	cd07137	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	433	cd07129	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	462	cd07082	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	440	cd07140	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	419	cd07112	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	410	cd07148	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	423	cd07145	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	414	cd07094	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	421	cd07147	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	409	cd07150	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	414	cd07149	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	413	cd07146	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	435	cd07116	4507229,NP_001071
7915	7531278	Disease	p.Val487Glu	VAR_026209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026209	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	435	cd07559	4507229,NP_001071
7915	7531278	Disease	p.Gly533Arg	VAR_026210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026210	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	460	cd07115	4507229,NP_001071
7915	7531278	Disease	p.Gly533Arg	VAR_026210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026210	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	483	cd07143	4507229,NP_001071
7915	7531278	Disease	p.Gly533Arg	VAR_026210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026210	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	510	cd07083	4507229,NP_001071
7915	7531278	Disease	p.Gly533Arg	VAR_026210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026210	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	639	COG1012	4507229,NP_001071
7915	7531278	Disease	p.Gly533Arg	VAR_026210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026210	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	544	cd07124	4507229,NP_001071
7915	7531278	Disease	p.Gly533Arg	VAR_026210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026210	- Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]	SWISS	486	cd07140	4507229,NP_001071
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	417	cd07143	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	424	cd07144	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	370	cd07137	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	453	cd07078	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	382_G	cd07133	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	372_G	cd07134	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	421_G	cd07087	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	369_G	cd07136	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	388	cd07105	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	373	cd07104	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	379	cd07095	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	530	pfam00171	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	407	cd07129	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	420	cd07084	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	391	cd07100	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	413	cd07113	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	430	cd07130	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	425	cd07138	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	444	cd07086	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	428	cd07139	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	429	cd07131	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	549	cd07125	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	400	cd07151	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	438	cd07083	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	380	cd07152	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	472	cd07123	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	475	cd06534	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	440	cd07082	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	624	COG4230	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	429	cd07085	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	415	cd07116	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	546	COG1012	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	413	cd07097	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	394	cd07094	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	389	cd07150	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	393	cd07146	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	394	cd07149	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	390	cd07148	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	401	cd07147	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	403	cd07145	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	393	cd07120	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	415	cd07559	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	408	cd07117	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	471	cd07124	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	394	cd07115	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	401	cd07110	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	415	cd07093	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	423	cd07089	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	394	cd07108	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	414	cd07106	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	399	cd07109	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	427	cd07103	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	394	cd07092	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	408	cd07114	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	403	cd07090	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	392	cd07107	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	420	cd07098	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	388	cd07101	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	394	cd07118	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	426	cd07102	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	397	cd07099	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	420	cd07140	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	417	cd07141	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	415	cd07135	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	435	cd07091	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	414	cd07142	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	419	cd07111	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	427	cd07126	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	418	cd07119	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	411	cd07088	11095441,NP_005580
4329	12643424	Disease	p.Gly446Arg	VAR_010244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010244	- Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]	SWISS	399	cd07112	11095441,NP_005580
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	172	cd07083	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	204	cd07124	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	190_G	cd07123	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	139	cd07112	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	152	cd07086	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	150	cd07130	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	158	cd07113	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	151	cd07559	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	151	cd07117	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	164	cd07126	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	140	cd07106	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	135_G	cd07103	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	135	cd07118	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	136	cd07092	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	137	cd07090	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	136	cd07109	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	155	cd07089	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	133	cd07108	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	135	cd07114	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	132	cd07120	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	135	cd07115	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	131	cd07107	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	143	cd07110	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	141	cd07093	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	158	cd07142	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	125	cd07095	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	121	cd07104	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	122	cd07105	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	154	cd06534	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	118	cd07129	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	128	cd07084	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	121	cd07100	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	116	cd07137	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	162	cd07143	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	162	cd07140	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	118	cd07134	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	142	cd07135	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	157	cd07085	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	134	cd07152	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	176_G	cd07082	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	146	cd07151	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	151	cd07116	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	210	COG1012	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	152	cd07097	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	160	cd07141	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	201	pfam00171	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	140	cd07098	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	144	cd07102	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	137	cd07099	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	133	cd07101	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	167	cd07091	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	151	cd07131	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	155	cd07119	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	175	cd07128	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	148	cd07088	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	158	cd07139	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	155_G	cd07138	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	138	cd07078	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	131_G	cd07087	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	120	cd07133	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	115	cd07132	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	161	cd07144	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	166	cd07111	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	139_G	cd07146	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	134	cd07150	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	139	cd07094	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	142	cd07145	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	137_G	cd07149	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	146	cd07147	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	141	cd07148	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	271	COG4230	188035924,NP_001173
501	294862544	Disease	p.Ala199Val	VAR_031718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031718	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	278	cd07125	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	407	cd07083	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	442	cd07124	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	436	cd07123	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	370	cd07112	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	414	cd07086	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	400	cd07130	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	384	cd07113	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	386	cd07559	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	379	cd07117	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	396	cd07126	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	384	cd07106	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	390	cd07103	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	365	cd07118	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	365	cd07092	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	374	cd07090	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	370	cd07109	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	391	cd07089	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	365	cd07108	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	379	cd07114	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	364	cd07120	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	365	cd07115	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	363	cd07107	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	372	cd07110	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	386	cd07093	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	385	cd07142	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	350	cd07095	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	344	cd07104	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	359	cd07105	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	433	cd06534	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	376	cd07129	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	386	cd07084	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	362	cd07100	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	341	cd07137	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	388	cd07143	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	389	cd07140	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	341	cd07134	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	385	cd07135	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	400	cd07085	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	351	cd07152	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	411	cd07082	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	371	cd07151	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	386	cd07116	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	510	COG1012	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	384	cd07097	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	388	cd07141	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	492	pfam00171	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	389	cd07098	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	397	cd07102	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	368	cd07099	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	359	cd07101	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	404	cd07091	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	399	cd07131	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	387	cd07119	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	412	cd07128	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	382	cd07088	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	394	cd07139	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	390	cd07138	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	416	cd07078	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	389	cd07087	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	351	cd07133	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	337	cd07132	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	395	cd07144	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	390	cd07111	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	363	cd07146	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	360	cd07150	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	365	cd07094	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	374	cd07145	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	365	cd07149	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	372	cd07147	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	361	cd07148	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	556	COG4230	188035924,NP_001173
501	294862544	Disease	p.Glu427Gln	VAR_031719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031719	- Pyridoxine-dependent epilepsy (PDE) [MIM:266100]	SWISS	518	cd07125	188035924,NP_001173
226	113606	Disease	p.Asp129Gly	VAR_000550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000550	- Glycogen storage disease type 12 (GSD12) [MIM:611881]	SWISS	127	cd00344	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Asp129Gly	VAR_000550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000550	- Glycogen storage disease type 12 (GSD12) [MIM:611881]	SWISS	120	cd00948	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Asp129Gly	VAR_000550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000550	- Glycogen storage disease type 12 (GSD12) [MIM:611881]	SWISS	129	COG3588	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Asp129Gly	VAR_000550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000550	- Glycogen storage disease type 12 (GSD12) [MIM:611881]	SWISS	166	cd00945	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Asp129Gly	VAR_000550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000550	- Glycogen storage disease type 12 (GSD12) [MIM:611881]	SWISS	155	pfam00274	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Glu207Lys	VAR_044142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044142	- Glycogen storage disease type 12 (GSD12) [MIM:611881]	SWISS	205	cd00344	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Glu207Lys	VAR_044142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044142	- Glycogen storage disease type 12 (GSD12) [MIM:611881]	SWISS	200	cd00948	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Glu207Lys	VAR_044142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044142	- Glycogen storage disease type 12 (GSD12) [MIM:611881]	SWISS	212	COG3588	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Glu207Lys	VAR_044142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044142	- Glycogen storage disease type 12 (GSD12) [MIM:611881]	SWISS	263	cd00945	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Glu207Lys	VAR_044142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044142	- Glycogen storage disease type 12 (GSD12) [MIM:611881]	SWISS	240	pfam00274	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Cys339Tyr	VAR_044143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044143	- Glycogen storage disease type 12 (GSD12) [MIM:611881]	SWISS	337	cd00344	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Cys339Tyr	VAR_044143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044143	- Glycogen storage disease type 12 (GSD12) [MIM:611881]	SWISS	334	cd00948	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Cys339Tyr	VAR_044143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044143	- Glycogen storage disease type 12 (GSD12) [MIM:611881]	SWISS	345	COG3588	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Cys339Tyr	VAR_044143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044143	- Glycogen storage disease type 12 (GSD12) [MIM:611881]	SWISS	395	pfam00274	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
226	113606	Disease	p.Gly347Ser	VAR_044144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044144	- Glycogen storage disease type 12 (GSD12) [MIM:611881]	SWISS	404	pfam00274	193794814,NP_001121089|34577110,NP_908930|34577112,NP_908932
229	113611	Disease	p.Ile74Thr	VAR_020822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020822	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	71	cd00344	40354205,NP_000026
229	113611	Disease	p.Ile74Thr	VAR_020822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020822	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	64	cd00948	40354205,NP_000026
229	113611	Disease	p.Ile74Thr	VAR_020822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020822	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	72	COG3588	40354205,NP_000026
229	113611	Disease	p.Ile74Thr	VAR_020822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020822	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	72	pfam00274	40354205,NP_000026
229	113611	Disease	p.Cys135Arg	VAR_000551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000551	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	133	cd00344	40354205,NP_000026
229	113611	Disease	p.Cys135Arg	VAR_000551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000551	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	126	cd00948	40354205,NP_000026
229	113611	Disease	p.Cys135Arg	VAR_000551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000551	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	135	COG3588	40354205,NP_000026
229	113611	Disease	p.Cys135Arg	VAR_000551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000551	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	161	pfam00274	40354205,NP_000026
229	113611	Disease	p.Ala150Pro	VAR_000553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000553	rs1800546 Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	148	cd00344	40354205,NP_000026
229	113611	Disease	p.Ala150Pro	VAR_000553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000553	rs1800546 Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	141	cd00948	40354205,NP_000026
229	113611	Disease	p.Ala150Pro	VAR_000553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000553	rs1800546 Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	150	COG3588	40354205,NP_000026
229	113611	Disease	p.Ala150Pro	VAR_000553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000553	rs1800546 Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	176	pfam00274	40354205,NP_000026
229	113611	Disease	p.Ala175Asp	VAR_000554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000554	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	173	cd00344	40354205,NP_000026
229	113611	Disease	p.Ala175Asp	VAR_000554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000554	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	168	cd00948	40354205,NP_000026
229	113611	Disease	p.Ala175Asp	VAR_000554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000554	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	177	COG3588	40354205,NP_000026
229	113611	Disease	p.Ala175Asp	VAR_000554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000554	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	208	pfam00274	40354205,NP_000026
229	113611	Disease	p.Cys178Arg	VAR_058211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058211	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	176	cd00344	40354205,NP_000026
229	113611	Disease	p.Cys178Arg	VAR_058211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058211	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	171	cd00948	40354205,NP_000026
229	113611	Disease	p.Cys178Arg	VAR_058211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058211	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	180	COG3588	40354205,NP_000026
229	113611	Disease	p.Cys178Arg	VAR_058211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058211	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	211	pfam00274	40354205,NP_000026
229	113611	Disease	p.Pro185Arg	VAR_020824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020824	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	183	cd00344	40354205,NP_000026
229	113611	Disease	p.Pro185Arg	VAR_020824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020824	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	178	cd00948	40354205,NP_000026
229	113611	Disease	p.Pro185Arg	VAR_020824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020824	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	187	COG3588	40354205,NP_000026
229	113611	Disease	p.Pro185Arg	VAR_020824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020824	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	218	pfam00274	40354205,NP_000026
229	113611	Disease	p.Val222Phe	VAR_020826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020826	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	220	cd00344	40354205,NP_000026
229	113611	Disease	p.Val222Phe	VAR_020826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020826	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	215	cd00948	40354205,NP_000026
229	113611	Disease	p.Val222Phe	VAR_020826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020826	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	227	COG3588	40354205,NP_000026
229	113611	Disease	p.Val222Phe	VAR_020826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020826	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	255	pfam00274	40354205,NP_000026
229	113611	Disease	p.Leu229Pro	VAR_020827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020827	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	227	cd00344	40354205,NP_000026
229	113611	Disease	p.Leu229Pro	VAR_020827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020827	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	222	cd00948	40354205,NP_000026
229	113611	Disease	p.Leu229Pro	VAR_020827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020827	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	234	COG3588	40354205,NP_000026
229	113611	Disease	p.Leu229Pro	VAR_020827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020827	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	263	pfam00274	40354205,NP_000026
229	113611	Disease	p.Leu257Pro	VAR_000555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000555	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	255	cd00344	40354205,NP_000026
229	113611	Disease	p.Leu257Pro	VAR_000555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000555	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	250	cd00948	40354205,NP_000026
229	113611	Disease	p.Leu257Pro	VAR_000555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000555	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	262	COG3588	40354205,NP_000026
229	113611	Disease	p.Leu257Pro	VAR_000555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000555	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	295	pfam00274	40354205,NP_000026
229	113611	Disease	p.Leu284Pro	VAR_058212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058212	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	282	cd00344	40354205,NP_000026
229	113611	Disease	p.Leu284Pro	VAR_058212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058212	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	277	cd00948	40354205,NP_000026
229	113611	Disease	p.Leu284Pro	VAR_058212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058212	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	289	COG3588	40354205,NP_000026
229	113611	Disease	p.Leu284Pro	VAR_058212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058212	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	322	pfam00274	40354205,NP_000026
229	113611	Disease	p.Arg304Gln	VAR_020828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020828	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	302	cd00344	40354205,NP_000026
229	113611	Disease	p.Arg304Gln	VAR_020828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020828	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	298	cd00948	40354205,NP_000026
229	113611	Disease	p.Arg304Gln	VAR_020828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020828	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	309	COG3588	40354205,NP_000026
229	113611	Disease	p.Arg304Gln	VAR_020828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020828	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	357	pfam00274	40354205,NP_000026
229	113611	Disease	p.Arg304Trp	VAR_000556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000556	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	302	cd00344	40354205,NP_000026
229	113611	Disease	p.Arg304Trp	VAR_000556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000556	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	298	cd00948	40354205,NP_000026
229	113611	Disease	p.Arg304Trp	VAR_000556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000556	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	309	COG3588	40354205,NP_000026
229	113611	Disease	p.Arg304Trp	VAR_000556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000556	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	357	pfam00274	40354205,NP_000026
229	113611	Disease	p.Asn335Lys	VAR_000557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000557	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	333	cd00344	40354205,NP_000026
229	113611	Disease	p.Asn335Lys	VAR_000557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000557	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	330	cd00948	40354205,NP_000026
229	113611	Disease	p.Asn335Lys	VAR_000557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000557	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	341	COG3588	40354205,NP_000026
229	113611	Disease	p.Asn335Lys	VAR_000557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000557	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	391	pfam00274	40354205,NP_000026
229	113611	Disease	p.Ala338Val	VAR_000558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000558	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	336	cd00344	40354205,NP_000026
229	113611	Disease	p.Ala338Val	VAR_000558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000558	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	333	cd00948	40354205,NP_000026
229	113611	Disease	p.Ala338Val	VAR_000558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000558	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	344	COG3588	40354205,NP_000026
229	113611	Disease	p.Ala338Val	VAR_000558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000558	- Hereditary fructose intolerance (HFI) [MIM:229600]	SWISS	394	pfam00274	40354205,NP_000026
56052	73921663	Disease	p.Ser150Arg	VAR_023364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023364	- Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]	SWISS	262	COG0438	41350216,NP_061982
56052	73921663	Disease	p.Ser150Arg	VAR_023364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023364	- Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]	SWISS	172	cd03794	41350216,NP_061982
56052	73921663	Disease	p.Ser150Arg	VAR_023364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023364	- Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]	SWISS	275	cd01635	41350216,NP_061982
56052	73921663	Disease	p.Ser150Arg	VAR_023364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023364	- Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]	SWISS	218	cd03801	41350216,NP_061982
56052	73921663	Disease	p.Ser150Arg	VAR_023364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023364	- Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]	SWISS	134	cd03816	41350216,NP_061982
56052	73921663	Disease	p.Ser258Leu	VAR_023365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023365	rs28939378 Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]	SWISS	474	COG0438	41350216,NP_061982
56052	73921663	Disease	p.Ser258Leu	VAR_023365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023365	rs28939378 Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]	SWISS	278	cd03794	41350216,NP_061982
56052	73921663	Disease	p.Ser258Leu	VAR_023365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023365	rs28939378 Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]	SWISS	504	cd01635	41350216,NP_061982
56052	73921663	Disease	p.Ser258Leu	VAR_023365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023365	rs28939378 Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]	SWISS	366	cd03801	41350216,NP_061982
56052	73921663	Disease	p.Ser258Leu	VAR_023365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023365	rs28939378 Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]	SWISS	262	cd03816	41350216,NP_061982
56052	73921663	Disease	p.Gln342Pro	VAR_023366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023366	- Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]	SWISS	693	COG0438	41350216,NP_061982
56052	73921663	Disease	p.Gln342Pro	VAR_023366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023366	- Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]	SWISS	361	cd03794	41350216,NP_061982
56052	73921663	Disease	p.Gln342Pro	VAR_023366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023366	- Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]	SWISS	685	cd01635	41350216,NP_061982
56052	73921663	Disease	p.Gln342Pro	VAR_023366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023366	- Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]	SWISS	490	cd03801	41350216,NP_061982
56052	73921663	Disease	p.Gln342Pro	VAR_023366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023366	- Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]	SWISS	423	cd03816	41350216,NP_061982
79087	45476971	Disease	p.Thr67Met	VAR_017904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017904	- Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]	SWISS	59	pfam03901	13129114,NP_077010
79087	45476971	Disease	p.Gly101Arg	VAR_038428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038428	- Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]	SWISS	137	pfam03901	13129114,NP_077010
79087	45476971	Disease	p.Phe142Val	VAR_017905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017905	rs28942090 Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]	SWISS	216	pfam03901	13129114,NP_077010
79087	45476971	Disease	p.Arg146Gln	VAR_017906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017906	- Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]	SWISS	220	pfam03901	13129114,NP_077010
79087	45476971	Disease	p.Leu158Pro	VAR_017907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017907	- Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]	SWISS	232	pfam03901	13129114,NP_077010
10195	3024226	Disease	p.Gly118Asp	VAR_010306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010306	rs28940588 Congenital disorder of glycosylation type 1D (CDG1D) [MIM:601110]	SWISS	75	pfam05208	5031953,NP_005778
10195	3024226	Disease	p.Arg171Gln	VAR_037806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037806	- Congenital disorder of glycosylation type 1D (CDG1D) [MIM:601110]	SWISS	128	pfam05208	5031953,NP_005778
29929	21263380	Disease	p.Tyr131His	VAR_022511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022511	rs35383149 Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]	SWISS	124	pfam03155	NULL
29929	21263380	Disease	p.Ser170Ile	VAR_022512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022512	- Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]	SWISS	169	pfam03155	NULL
29929	21263380	Disease	p.Gly227Glu	VAR_022513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022513	- Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]	SWISS	242	pfam03155	NULL
29929	21263380	Disease	p.Ser308Arg	VAR_022514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022514	- Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]	SWISS	376	pfam03155	NULL
29929	21263380	Disease	p.Ala333Val	VAR_013443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013443	- Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]	SWISS	404	pfam03155	NULL
29929	21263380	Disease	p.Ser478Pro	VAR_013444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013444	- Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]	SWISS	563	pfam03155	NULL
79053	143811361	Disease	p.Thr47Pro	VAR_023480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023480	- Congenital disorder of glycosylation type 1H (CDG1H) [MIM:608104]	SWISS	37	pfam03155	56121818,NP_076984
79053	143811361	Disease	p.Gly275Asp	VAR_023482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023482	- Congenital disorder of glycosylation type 1H (CDG1H) [MIM:608104]	SWISS	287	pfam03155	56121818,NP_076984
79796	73921666	Disease	p.Tyr287Cys	VAR_023410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023410	- Congenital disorder of glycosylation type 1L (CDG1L) [MIM:608776]	SWISS	400	pfam03901	118026933,NP_001071158
79796	73921666	Disease	p.Glu523Lys	VAR_023413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023413	- Congenital disorder of glycosylation type 1L (CDG1L) [MIM:608776]	SWISS	No Domain	N/A	118026933,NP_001071158
242	12230234	Disease	p.Leu426Pro	VAR_015173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015173	- Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]	SWISS	393	pfam00305	4502053,NP_001130
242	12230234	Disease	p.His578Gln	VAR_015174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015174	- Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]	SWISS	559	pfam00305	4502053,NP_001130
59344	27923803	Disease	p.Arg396Ser	VAR_015175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015175	- Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]	SWISS	353	pfam00305	182765464,NP_067641
59344	27923803	Disease	p.Val500Phe	VAR_015176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015176	- Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]	SWISS	459	pfam00305	182765464,NP_067641
249	68067533	Disease	p.Ser17Phe	VAR_025903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025903	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	10	COG1785	116734717,NP_000469
249	68067533	Disease	p.Tyr28Cys	VAR_013972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013972	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	24	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ala33Val	VAR_006147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006147	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	29	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ala40Val	VAR_011081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011081	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	36	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ala51Ser	VAR_025904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025904	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	67	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ala51Ser	VAR_025904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025904	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	6	cd00016	116734717,NP_000469
249	68067533	Disease	p.Ala51Val	VAR_013973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013973	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	67	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ala51Val	VAR_013973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013973	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	6	cd00016	116734717,NP_000469
249	68067533	Disease	p.Met62Leu	VAR_006148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006148	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	11	smart00098	116734717,NP_000469
249	68067533	Disease	p.Met62Leu	VAR_006148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006148	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	82	COG1785	116734717,NP_000469
249	68067533	Disease	p.Met62Leu	VAR_006148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006148	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	17	cd00016	116734717,NP_000469
249	68067533	Disease	p.Met62Leu	VAR_006148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006148	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	12	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Met62Val	VAR_025905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025905	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	11	smart00098	116734717,NP_000469
249	68067533	Disease	p.Met62Val	VAR_025905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025905	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	82	COG1785	116734717,NP_000469
249	68067533	Disease	p.Met62Val	VAR_025905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025905	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	17	cd00016	116734717,NP_000469
249	68067533	Disease	p.Met62Val	VAR_025905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025905	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	12	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Gly63Arg	VAR_025906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025906	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	12	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly63Arg	VAR_025906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025906	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	83	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly63Arg	VAR_025906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025906	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	18	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly63Arg	VAR_025906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025906	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	13	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Gly63Val	VAR_013974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013974	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	12	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly63Val	VAR_013974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013974	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	83	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly63Val	VAR_013974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013974	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	18	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly63Val	VAR_013974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013974	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	13	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Thr68Met	VAR_025907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025907	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	17	smart00098	116734717,NP_000469
249	68067533	Disease	p.Thr68Met	VAR_025907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025907	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	88	COG1785	116734717,NP_000469
249	68067533	Disease	p.Thr68Met	VAR_025907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025907	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	23	cd00016	116734717,NP_000469
249	68067533	Disease	p.Thr68Met	VAR_025907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025907	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	18	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Arg71Cys	VAR_006149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006149	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	20	smart00098	116734717,NP_000469
249	68067533	Disease	p.Arg71Cys	VAR_006149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006149	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	91	COG1785	116734717,NP_000469
249	68067533	Disease	p.Arg71Cys	VAR_006149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006149	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	26	cd00016	116734717,NP_000469
249	68067533	Disease	p.Arg71Cys	VAR_006149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006149	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	21	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Arg71His	VAR_013975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013975	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	20	smart00098	116734717,NP_000469
249	68067533	Disease	p.Arg71His	VAR_013975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013975	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	91	COG1785	116734717,NP_000469
249	68067533	Disease	p.Arg71His	VAR_013975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013975	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	26	cd00016	116734717,NP_000469
249	68067533	Disease	p.Arg71His	VAR_013975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013975	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	21	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Arg71Pro	VAR_006150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006150	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	20	smart00098	116734717,NP_000469
249	68067533	Disease	p.Arg71Pro	VAR_006150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006150	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	91	COG1785	116734717,NP_000469
249	68067533	Disease	p.Arg71Pro	VAR_006150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006150	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	26	cd00016	116734717,NP_000469
249	68067533	Disease	p.Arg71Pro	VAR_006150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006150	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	21	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Arg71Ser	VAR_025908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025908	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	20	smart00098	116734717,NP_000469
249	68067533	Disease	p.Arg71Ser	VAR_025908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025908	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	91	COG1785	116734717,NP_000469
249	68067533	Disease	p.Arg71Ser	VAR_025908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025908	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	26	cd00016	116734717,NP_000469
249	68067533	Disease	p.Arg71Ser	VAR_025908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025908	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	21	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Gly75Ser	VAR_013976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013976	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	24	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly75Ser	VAR_013976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013976	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	95	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly75Ser	VAR_013976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013976	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	30	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly75Ser	VAR_013976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013976	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	25	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Gln76Arg	VAR_025909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025909	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	25	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gln76Arg	VAR_025909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025909	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	96	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gln76Arg	VAR_025909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025909	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	31	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gln76Arg	VAR_025909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025909	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	26	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Pro108Leu	VAR_025910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025910	rs28933975 Hypophosphatasia (HOPS) [MIM:241500]	SWISS	61	smart00098	116734717,NP_000469
249	68067533	Disease	p.Pro108Leu	VAR_025910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025910	rs28933975 Hypophosphatasia (HOPS) [MIM:241500]	SWISS	157	COG1785	116734717,NP_000469
249	68067533	Disease	p.Pro108Leu	VAR_025910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025910	rs28933975 Hypophosphatasia (HOPS) [MIM:241500]	SWISS	76	cd00016	116734717,NP_000469
249	68067533	Disease	p.Pro108Leu	VAR_025910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025910	rs28933975 Hypophosphatasia (HOPS) [MIM:241500]	SWISS	64	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Ala111Thr	VAR_006151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006151	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	64	smart00098	116734717,NP_000469
249	68067533	Disease	p.Ala111Thr	VAR_006151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006151	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	160	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ala111Thr	VAR_006151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006151	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	79	cd00016	116734717,NP_000469
249	68067533	Disease	p.Ala111Thr	VAR_006151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006151	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	67	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Ala114Gly	VAR_025911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025911	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	67	smart00098	116734717,NP_000469
249	68067533	Disease	p.Ala114Gly	VAR_025911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025911	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	163	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ala114Gly	VAR_025911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025911	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	82	cd00016	116734717,NP_000469
249	68067533	Disease	p.Ala114Gly	VAR_025911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025911	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	70	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Ala116Thr	VAR_013977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013977	rs28933974 Hypophosphatasia (HOPS) [MIM:241500]	SWISS	69	smart00098	116734717,NP_000469
249	68067533	Disease	p.Ala116Thr	VAR_013977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013977	rs28933974 Hypophosphatasia (HOPS) [MIM:241500]	SWISS	165	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ala116Thr	VAR_013977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013977	rs28933974 Hypophosphatasia (HOPS) [MIM:241500]	SWISS	84	cd00016	116734717,NP_000469
249	68067533	Disease	p.Ala116Thr	VAR_013977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013977	rs28933974 Hypophosphatasia (HOPS) [MIM:241500]	SWISS	72	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Gly120Arg	VAR_013978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013978	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	73	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly120Arg	VAR_013978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013978	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	169	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly120Arg	VAR_013978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013978	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	88	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly120Arg	VAR_013978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013978	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	76	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Val128Met	VAR_025912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025912	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	81	smart00098	116734717,NP_000469
249	68067533	Disease	p.Val128Met	VAR_025912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025912	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	180	COG1785	116734717,NP_000469
249	68067533	Disease	p.Val128Met	VAR_025912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025912	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	96	cd00016	116734717,NP_000469
249	68067533	Disease	p.Val128Met	VAR_025912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025912	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	84	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Gly129Arg	VAR_013979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013979	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	82	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly129Arg	VAR_013979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013979	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	181	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly129Arg	VAR_013979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013979	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	97	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly129Arg	VAR_013979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013979	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	85	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Ala132Val	VAR_013146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013146	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	85	smart00098	116734717,NP_000469
249	68067533	Disease	p.Ala132Val	VAR_013146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013146	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	184	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ala132Val	VAR_013146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013146	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	100	cd00016	116734717,NP_000469
249	68067533	Disease	p.Ala132Val	VAR_013146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013146	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	88	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Thr134His	VAR_025913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025913	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	87	smart00098	116734717,NP_000469
249	68067533	Disease	p.Thr134His	VAR_025913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025913	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	192	COG1785	116734717,NP_000469
249	68067533	Disease	p.Thr134His	VAR_025913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025913	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	102	cd00016	116734717,NP_000469
249	68067533	Disease	p.Thr134His	VAR_025913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025913	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	90	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Thr134Asn	VAR_011082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011082	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	87	smart00098	116734717,NP_000469
249	68067533	Disease	p.Thr134Asn	VAR_011082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011082	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	192	COG1785	116734717,NP_000469
249	68067533	Disease	p.Thr134Asn	VAR_011082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011082	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	102	cd00016	116734717,NP_000469
249	68067533	Disease	p.Thr134Asn	VAR_011082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011082	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	90	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Arg136His	VAR_006152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006152	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	89	smart00098	116734717,NP_000469
249	68067533	Disease	p.Arg136His	VAR_006152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006152	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	194	COG1785	116734717,NP_000469
249	68067533	Disease	p.Arg136His	VAR_006152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006152	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	104	cd00016	116734717,NP_000469
249	68067533	Disease	p.Arg136His	VAR_006152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006152	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	92	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Thr148Ile	VAR_025914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025914	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	111	smart00098	116734717,NP_000469
249	68067533	Disease	p.Thr148Ile	VAR_025914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025914	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	206	COG1785	116734717,NP_000469
249	68067533	Disease	p.Thr148Ile	VAR_025914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025914	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	130	cd00016	116734717,NP_000469
249	68067533	Disease	p.Thr148Ile	VAR_025914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025914	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	108	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Arg152His	VAR_013980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013980	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	115	smart00098	116734717,NP_000469
249	68067533	Disease	p.Arg152His	VAR_013980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013980	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	210	COG1785	116734717,NP_000469
249	68067533	Disease	p.Arg152His	VAR_013980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013980	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	134	cd00016	116734717,NP_000469
249	68067533	Disease	p.Arg152His	VAR_013980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013980	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	112	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Gly162Ser	VAR_025915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025915	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	125	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly162Ser	VAR_025915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025915	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	220	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly162Ser	VAR_025915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025915	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	144	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly162Ser	VAR_025915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025915	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	122	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Gly162Val	VAR_006153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006153	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	125	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly162Val	VAR_006153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006153	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	220	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly162Val	VAR_006153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006153	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	144	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly162Val	VAR_006153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006153	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	122	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Asn170Asp	VAR_013981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013981	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	133	smart00098	116734717,NP_000469
249	68067533	Disease	p.Asn170Asp	VAR_013981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013981	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	228	COG1785	116734717,NP_000469
249	68067533	Disease	p.Asn170Asp	VAR_013981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013981	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	152	cd00016	116734717,NP_000469
249	68067533	Disease	p.Asn170Asp	VAR_013981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013981	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	130	pfam00245	116734717,NP_000469
249	68067533	Disease	p.His171Arg	VAR_025916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025916	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	134	smart00098	116734717,NP_000469
249	68067533	Disease	p.His171Arg	VAR_025916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025916	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	229	COG1785	116734717,NP_000469
249	68067533	Disease	p.His171Arg	VAR_025916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025916	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	153	cd00016	116734717,NP_000469
249	68067533	Disease	p.His171Arg	VAR_025916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025916	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	131	pfam00245	116734717,NP_000469
249	68067533	Disease	p.His171Tyr	VAR_006154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006154	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	134	smart00098	116734717,NP_000469
249	68067533	Disease	p.His171Tyr	VAR_006154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006154	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	229	COG1785	116734717,NP_000469
249	68067533	Disease	p.His171Tyr	VAR_006154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006154	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	153	cd00016	116734717,NP_000469
249	68067533	Disease	p.His171Tyr	VAR_006154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006154	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	131	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Ala176Thr	VAR_011083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011083	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	139	smart00098	116734717,NP_000469
249	68067533	Disease	p.Ala176Thr	VAR_011083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011083	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	234	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ala176Thr	VAR_011083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011083	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	158	cd00016	116734717,NP_000469
249	68067533	Disease	p.Ala176Thr	VAR_011083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011083	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	136	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Ala177Thr	VAR_006155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006155	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	140	smart00098	116734717,NP_000469
249	68067533	Disease	p.Ala177Thr	VAR_006155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006155	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	235	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ala177Thr	VAR_006155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006155	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	159	cd00016	116734717,NP_000469
249	68067533	Disease	p.Ala177Thr	VAR_006155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006155	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	137	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Ala179Thr	VAR_006156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006156	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	142	smart00098	116734717,NP_000469
249	68067533	Disease	p.Ala179Thr	VAR_006156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006156	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	237	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ala179Thr	VAR_006156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006156	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	161	cd00016	116734717,NP_000469
249	68067533	Disease	p.Ala179Thr	VAR_006156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006156	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	139	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Ser181Leu	VAR_013982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013982	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	144	smart00098	116734717,NP_000469
249	68067533	Disease	p.Ser181Leu	VAR_013982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013982	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	239	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ser181Leu	VAR_013982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013982	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	163	cd00016	116734717,NP_000469
249	68067533	Disease	p.Ser181Leu	VAR_013982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013982	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	141	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Arg184Trp	VAR_013983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013983	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	147	smart00098	116734717,NP_000469
249	68067533	Disease	p.Arg184Trp	VAR_013983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013983	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	242	COG1785	116734717,NP_000469
249	68067533	Disease	p.Arg184Trp	VAR_013983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013983	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	166	cd00016	116734717,NP_000469
249	68067533	Disease	p.Arg184Trp	VAR_013983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013983	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	144	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Asp189Glu	VAR_025917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025917	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	156	smart00098	116734717,NP_000469
249	68067533	Disease	p.Asp189Glu	VAR_025917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025917	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	247	COG1785	116734717,NP_000469
249	68067533	Disease	p.Asp189Glu	VAR_025917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025917	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	171	cd00016	116734717,NP_000469
249	68067533	Disease	p.Asp189Glu	VAR_025917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025917	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	149	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Glu191Gly	VAR_006157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006157	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	158	smart00098	116734717,NP_000469
249	68067533	Disease	p.Glu191Gly	VAR_006157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006157	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	248	COG1785	116734717,NP_000469
249	68067533	Disease	p.Glu191Gly	VAR_006157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006157	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	173	cd00016	116734717,NP_000469
249	68067533	Disease	p.Glu191Gly	VAR_006157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006157	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	151	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Glu191Lys	VAR_006158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006158	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	158	smart00098	116734717,NP_000469
249	68067533	Disease	p.Glu191Lys	VAR_006158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006158	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	248	COG1785	116734717,NP_000469
249	68067533	Disease	p.Glu191Lys	VAR_006158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006158	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	173	cd00016	116734717,NP_000469
249	68067533	Disease	p.Glu191Lys	VAR_006158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006158	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	151	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Cys201Tyr	VAR_006159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006159	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	171	smart00098	116734717,NP_000469
249	68067533	Disease	p.Cys201Tyr	VAR_006159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006159	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	259	COG1785	116734717,NP_000469
249	68067533	Disease	p.Cys201Tyr	VAR_006159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006159	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	188	cd00016	116734717,NP_000469
249	68067533	Disease	p.Cys201Tyr	VAR_006159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006159	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	166	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Gln207Pro	VAR_006160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006160	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	177	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gln207Pro	VAR_006160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006160	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	265	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gln207Pro	VAR_006160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006160	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	194	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gln207Pro	VAR_006160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006160	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	172	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Asn211Asp	VAR_013984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013984	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	185	smart00098	116734717,NP_000469
249	68067533	Disease	p.Asn211Asp	VAR_013984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013984	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	269	COG1785	116734717,NP_000469
249	68067533	Disease	p.Asn211Asp	VAR_013984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013984	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	198	cd00016	116734717,NP_000469
249	68067533	Disease	p.Asn211Asp	VAR_013984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013984	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	176	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Ile212Phe	VAR_025918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025918	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	186	smart00098	116734717,NP_000469
249	68067533	Disease	p.Ile212Phe	VAR_025918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025918	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	270	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ile212Phe	VAR_025918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025918	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	199	cd00016	116734717,NP_000469
249	68067533	Disease	p.Ile212Phe	VAR_025918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025918	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	177	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Gly220Ala	VAR_025919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025919	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	195	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly220Ala	VAR_025919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025919	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	281	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly220Ala	VAR_025919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025919	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	215	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly220Ala	VAR_025919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025919	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	187	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Gly220Val	VAR_013985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013985	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	195	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly220Val	VAR_013985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013985	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	281	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly220Val	VAR_013985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013985	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	215	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly220Val	VAR_013985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013985	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	187	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Arg223Gln	VAR_025920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025920	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	198	smart00098	116734717,NP_000469
249	68067533	Disease	p.Arg223Gln	VAR_025920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025920	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	284	COG1785	116734717,NP_000469
249	68067533	Disease	p.Arg223Gln	VAR_025920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025920	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	218	cd00016	116734717,NP_000469
249	68067533	Disease	p.Arg223Gln	VAR_025920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025920	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	190	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Arg223Trp	VAR_013986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013986	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	198	smart00098	116734717,NP_000469
249	68067533	Disease	p.Arg223Trp	VAR_013986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013986	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	284	COG1785	116734717,NP_000469
249	68067533	Disease	p.Arg223Trp	VAR_013986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013986	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	218	cd00016	116734717,NP_000469
249	68067533	Disease	p.Arg223Trp	VAR_013986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013986	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	190	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Lys224Glu	VAR_011084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011084	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	199	smart00098	116734717,NP_000469
249	68067533	Disease	p.Lys224Glu	VAR_011084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011084	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	285	COG1785	116734717,NP_000469
249	68067533	Disease	p.Lys224Glu	VAR_011084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011084	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	219	cd00016	116734717,NP_000469
249	68067533	Disease	p.Lys224Glu	VAR_011084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011084	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	191	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Glu235Gly	VAR_013987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013987	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	210	smart00098	116734717,NP_000469
249	68067533	Disease	p.Glu235Gly	VAR_013987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013987	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	296	COG1785	116734717,NP_000469
249	68067533	Disease	p.Glu235Gly	VAR_013987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013987	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	230	cd00016	116734717,NP_000469
249	68067533	Disease	p.Glu235Gly	VAR_013987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013987	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	202	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Arg246Ser	VAR_011085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011085	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	229	smart00098	116734717,NP_000469
249	68067533	Disease	p.Arg246Ser	VAR_011085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011085	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	304	COG1785	116734717,NP_000469
249	68067533	Disease	p.Arg246Ser	VAR_011085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011085	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	244	cd00016	116734717,NP_000469
249	68067533	Disease	p.Arg246Ser	VAR_011085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011085	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	213	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Gly249Val	VAR_013988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013988	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	232	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly249Val	VAR_013988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013988	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	307	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly249Val	VAR_013988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013988	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	247	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly249Val	VAR_013988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013988	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	216	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Arg272His	VAR_025921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025921	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	256	smart00098	116734717,NP_000469
249	68067533	Disease	p.Arg272His	VAR_025921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025921	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	330	COG1785	116734717,NP_000469
249	68067533	Disease	p.Arg272His	VAR_025921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025921	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	271	cd00016	116734717,NP_000469
249	68067533	Disease	p.Arg272His	VAR_025921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025921	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	240	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Arg272Leu	VAR_025922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025922	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	256	smart00098	116734717,NP_000469
249	68067533	Disease	p.Arg272Leu	VAR_025922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025922	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	330	COG1785	116734717,NP_000469
249	68067533	Disease	p.Arg272Leu	VAR_025922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025922	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	271	cd00016	116734717,NP_000469
249	68067533	Disease	p.Arg272Leu	VAR_025922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025922	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	240	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Leu275Pro	VAR_025923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025923	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	259	smart00098	116734717,NP_000469
249	68067533	Disease	p.Leu275Pro	VAR_025923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025923	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	333	COG1785	116734717,NP_000469
249	68067533	Disease	p.Leu275Pro	VAR_025923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025923	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	274	cd00016	116734717,NP_000469
249	68067533	Disease	p.Leu275Pro	VAR_025923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025923	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	246	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Leu289Phe	VAR_006162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006162	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	278	smart00098	116734717,NP_000469
249	68067533	Disease	p.Leu289Phe	VAR_006162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006162	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	355	COG1785	116734717,NP_000469
249	68067533	Disease	p.Leu289Phe	VAR_006162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006162	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	292	cd00016	116734717,NP_000469
249	68067533	Disease	p.Leu289Phe	VAR_006162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006162	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	261	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Glu291Lys	VAR_013989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013989	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	280	smart00098	116734717,NP_000469
249	68067533	Disease	p.Glu291Lys	VAR_013989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013989	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	357	COG1785	116734717,NP_000469
249	68067533	Disease	p.Glu291Lys	VAR_013989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013989	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	294	cd00016	116734717,NP_000469
249	68067533	Disease	p.Glu291Lys	VAR_013989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013989	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	263	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Pro292Thr	VAR_025924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025924	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	281	smart00098	116734717,NP_000469
249	68067533	Disease	p.Pro292Thr	VAR_025924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025924	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	358	COG1785	116734717,NP_000469
249	68067533	Disease	p.Pro292Thr	VAR_025924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025924	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	295	cd00016	116734717,NP_000469
249	68067533	Disease	p.Pro292Thr	VAR_025924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025924	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	264	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Asp294Ala	VAR_006163	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006163	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	303	smart00098	116734717,NP_000469
249	68067533	Disease	p.Asp294Ala	VAR_006163	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006163	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	421	COG1785	116734717,NP_000469
249	68067533	Disease	p.Asp294Ala	VAR_006163	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006163	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	298	cd00016	116734717,NP_000469
249	68067533	Disease	p.Asp294Ala	VAR_006163	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006163	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	266	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Asp294Tyr	VAR_013990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013990	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	303	smart00098	116734717,NP_000469
249	68067533	Disease	p.Asp294Tyr	VAR_013990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013990	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	421	COG1785	116734717,NP_000469
249	68067533	Disease	p.Asp294Tyr	VAR_013990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013990	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	298	cd00016	116734717,NP_000469
249	68067533	Disease	p.Asp294Tyr	VAR_013990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013990	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	266	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Met295Thr	VAR_025926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025926	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	304	smart00098	116734717,NP_000469
249	68067533	Disease	p.Met295Thr	VAR_025926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025926	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	422	COG1785	116734717,NP_000469
249	68067533	Disease	p.Met295Thr	VAR_025926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025926	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	299	cd00016	116734717,NP_000469
249	68067533	Disease	p.Met295Thr	VAR_025926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025926	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	267	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Tyr297Asp	VAR_025927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025927	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	328	smart00098	116734717,NP_000469
249	68067533	Disease	p.Tyr297Asp	VAR_025927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025927	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	424	COG1785	116734717,NP_000469
249	68067533	Disease	p.Tyr297Asp	VAR_025927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025927	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	301	cd00016	116734717,NP_000469
249	68067533	Disease	p.Tyr297Asp	VAR_025927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025927	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	269	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Glu298Lys	VAR_025928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025928	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	329	smart00098	116734717,NP_000469
249	68067533	Disease	p.Glu298Lys	VAR_025928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025928	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	425	COG1785	116734717,NP_000469
249	68067533	Disease	p.Glu298Lys	VAR_025928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025928	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	302	cd00016	116734717,NP_000469
249	68067533	Disease	p.Glu298Lys	VAR_025928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025928	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	270	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Leu299Pro	VAR_025929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025929	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	330	smart00098	116734717,NP_000469
249	68067533	Disease	p.Leu299Pro	VAR_025929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025929	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	426	COG1785	116734717,NP_000469
249	68067533	Disease	p.Leu299Pro	VAR_025929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025929	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	303	cd00016	116734717,NP_000469
249	68067533	Disease	p.Leu299Pro	VAR_025929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025929	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	271	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Asp306Val	VAR_006164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006164	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	341	smart00098	116734717,NP_000469
249	68067533	Disease	p.Asp306Val	VAR_006164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006164	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	449	COG1785	116734717,NP_000469
249	68067533	Disease	p.Asp306Val	VAR_006164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006164	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	331	cd00016	116734717,NP_000469
249	68067533	Disease	p.Asp306Val	VAR_006164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006164	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	299	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Glu311Lys	VAR_025930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025930	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	346	smart00098	116734717,NP_000469
249	68067533	Disease	p.Glu311Lys	VAR_025930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025930	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	454	COG1785	116734717,NP_000469
249	68067533	Disease	p.Glu311Lys	VAR_025930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025930	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	336	cd00016	116734717,NP_000469
249	68067533	Disease	p.Glu311Lys	VAR_025930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025930	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	304	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Gly326Arg	VAR_013991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013991	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	374	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly326Arg	VAR_013991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013991	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	475	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly326Arg	VAR_013991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013991	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	358	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly326Arg	VAR_013991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013991	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	326	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Phe327Gly	VAR_013992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013992	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	375	smart00098	116734717,NP_000469
249	68067533	Disease	p.Phe327Gly	VAR_013992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013992	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	476	COG1785	116734717,NP_000469
249	68067533	Disease	p.Phe327Gly	VAR_013992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013992	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	359	cd00016	116734717,NP_000469
249	68067533	Disease	p.Phe327Gly	VAR_013992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013992	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	327	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Phe327Leu	VAR_006165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006165	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	375	smart00098	116734717,NP_000469
249	68067533	Disease	p.Phe327Leu	VAR_006165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006165	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	476	COG1785	116734717,NP_000469
249	68067533	Disease	p.Phe327Leu	VAR_006165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006165	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	359	cd00016	116734717,NP_000469
249	68067533	Disease	p.Phe327Leu	VAR_006165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006165	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	327	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Gly334Asp	VAR_006166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006166	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	382	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly334Asp	VAR_006166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006166	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	483	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly334Asp	VAR_006166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006166	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	366	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly334Asp	VAR_006166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006166	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	334	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Gly339Arg	VAR_025932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025932	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	387	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly339Arg	VAR_025932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025932	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	488	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly339Arg	VAR_025932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025932	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	371	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly339Arg	VAR_025932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025932	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	339	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Ala348Thr	VAR_011086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011086	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	396	smart00098	116734717,NP_000469
249	68067533	Disease	p.Ala348Thr	VAR_011086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011086	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	497	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ala348Thr	VAR_011086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011086	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	380	cd00016	116734717,NP_000469
249	68067533	Disease	p.Ala348Thr	VAR_011086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011086	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	348	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Glu354Asp	VAR_025933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025933	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	402	smart00098	116734717,NP_000469
249	68067533	Disease	p.Glu354Asp	VAR_025933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025933	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	503	COG1785	116734717,NP_000469
249	68067533	Disease	p.Glu354Asp	VAR_025933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025933	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	386	cd00016	116734717,NP_000469
249	68067533	Disease	p.Glu354Asp	VAR_025933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025933	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	354	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Asp378Val	VAR_006167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006167	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	428	smart00098	116734717,NP_000469
249	68067533	Disease	p.Asp378Val	VAR_006167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006167	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	534	COG1785	116734717,NP_000469
249	68067533	Disease	p.Asp378Val	VAR_006167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006167	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	415	cd00016	116734717,NP_000469
249	68067533	Disease	p.Asp378Val	VAR_006167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006167	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	380	pfam00245	116734717,NP_000469
249	68067533	Disease	p.His381Arg	VAR_011087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011087	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	431	smart00098	116734717,NP_000469
249	68067533	Disease	p.His381Arg	VAR_011087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011087	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	537	COG1785	116734717,NP_000469
249	68067533	Disease	p.His381Arg	VAR_011087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011087	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	418	cd00016	116734717,NP_000469
249	68067533	Disease	p.His381Arg	VAR_011087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011087	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	383	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Val382Ile	VAR_006168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006168	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	432	smart00098	116734717,NP_000469
249	68067533	Disease	p.Val382Ile	VAR_006168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006168	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	538	COG1785	116734717,NP_000469
249	68067533	Disease	p.Val382Ile	VAR_006168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006168	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	419	cd00016	116734717,NP_000469
249	68067533	Disease	p.Val382Ile	VAR_006168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006168	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	384	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Arg391Cys	VAR_013993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013993	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	441	smart00098	116734717,NP_000469
249	68067533	Disease	p.Arg391Cys	VAR_013993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013993	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	563	COG1785	116734717,NP_000469
249	68067533	Disease	p.Arg391Cys	VAR_013993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013993	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	428	cd00016	116734717,NP_000469
249	68067533	Disease	p.Arg391Cys	VAR_013993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013993	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	399	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Arg391His	VAR_025934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025934	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	441	smart00098	116734717,NP_000469
249	68067533	Disease	p.Arg391His	VAR_025934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025934	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	563	COG1785	116734717,NP_000469
249	68067533	Disease	p.Arg391His	VAR_025934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025934	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	428	cd00016	116734717,NP_000469
249	68067533	Disease	p.Arg391His	VAR_025934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025934	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	399	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Ala399Ser	VAR_013994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013994	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	450	smart00098	116734717,NP_000469
249	68067533	Disease	p.Ala399Ser	VAR_013994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013994	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	580	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ala399Ser	VAR_013994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013994	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	436	cd00016	116734717,NP_000469
249	68067533	Disease	p.Ala399Ser	VAR_013994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013994	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	407	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Asp406Gly	VAR_011088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011088	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	461	smart00098	116734717,NP_000469
249	68067533	Disease	p.Asp406Gly	VAR_011088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011088	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	587	COG1785	116734717,NP_000469
249	68067533	Disease	p.Asp406Gly	VAR_011088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011088	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	462	cd00016	116734717,NP_000469
249	68067533	Disease	p.Asp406Gly	VAR_011088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011088	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	414	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Thr411Ala	VAR_025935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025935	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	466	smart00098	116734717,NP_000469
249	68067533	Disease	p.Thr411Ala	VAR_025935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025935	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	596	COG1785	116734717,NP_000469
249	68067533	Disease	p.Thr411Ala	VAR_025935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025935	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	467	cd00016	116734717,NP_000469
249	68067533	Disease	p.Thr411Ala	VAR_025935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025935	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	419	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Leu414Met	VAR_025936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025936	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	469	smart00098	116734717,NP_000469
249	68067533	Disease	p.Leu414Met	VAR_025936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025936	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	599	COG1785	116734717,NP_000469
249	68067533	Disease	p.Leu414Met	VAR_025936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025936	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	470	cd00016	116734717,NP_000469
249	68067533	Disease	p.Leu414Met	VAR_025936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025936	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	422	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Asn417Ser	VAR_025937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025937	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	472	smart00098	116734717,NP_000469
249	68067533	Disease	p.Asn417Ser	VAR_025937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025937	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	602	COG1785	116734717,NP_000469
249	68067533	Disease	p.Asn417Ser	VAR_025937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025937	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	473	cd00016	116734717,NP_000469
249	68067533	Disease	p.Asn417Ser	VAR_025937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025937	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	425	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Val423Ala	VAR_013995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013995	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	478	smart00098	116734717,NP_000469
249	68067533	Disease	p.Val423Ala	VAR_013995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013995	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	608	COG1785	116734717,NP_000469
249	68067533	Disease	p.Val423Ala	VAR_013995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013995	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	479	cd00016	116734717,NP_000469
249	68067533	Disease	p.Val423Ala	VAR_013995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013995	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	434	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Gly426Cys	VAR_011089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011089	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	500	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly426Cys	VAR_011089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011089	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	622	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly426Cys	VAR_011089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011089	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	482	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly426Cys	VAR_011089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011089	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	462	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Gly426Asp	VAR_025938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025938	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	500	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly426Asp	VAR_025938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025938	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	622	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly426Asp	VAR_025938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025938	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	482	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly426Asp	VAR_025938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025938	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	462	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Tyr436His	VAR_006169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006169	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	512	smart00098	116734717,NP_000469
249	68067533	Disease	p.Tyr436His	VAR_006169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006169	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	632	COG1785	116734717,NP_000469
249	68067533	Disease	p.Tyr436His	VAR_006169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006169	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	535	cd00016	116734717,NP_000469
249	68067533	Disease	p.Tyr436His	VAR_006169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006169	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	473	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Ser445Pro	VAR_013996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013996	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	521	smart00098	116734717,NP_000469
249	68067533	Disease	p.Ser445Pro	VAR_013996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013996	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	662	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ser445Pro	VAR_013996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013996	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	544	cd00016	116734717,NP_000469
249	68067533	Disease	p.Ser445Pro	VAR_013996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013996	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	482	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Arg450Cys	VAR_013997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013997	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	526	smart00098	116734717,NP_000469
249	68067533	Disease	p.Arg450Cys	VAR_013997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013997	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	667	COG1785	116734717,NP_000469
249	68067533	Disease	p.Arg450Cys	VAR_013997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013997	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	549	cd00016	116734717,NP_000469
249	68067533	Disease	p.Arg450Cys	VAR_013997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013997	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	487	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Arg450His	VAR_011090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011090	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	526	smart00098	116734717,NP_000469
249	68067533	Disease	p.Arg450His	VAR_011090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011090	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	667	COG1785	116734717,NP_000469
249	68067533	Disease	p.Arg450His	VAR_011090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011090	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	549	cd00016	116734717,NP_000469
249	68067533	Disease	p.Arg450His	VAR_011090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011090	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	487	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Glu452Lys	VAR_025939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025939	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	528	smart00098	116734717,NP_000469
249	68067533	Disease	p.Glu452Lys	VAR_025939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025939	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	669	COG1785	116734717,NP_000469
249	68067533	Disease	p.Glu452Lys	VAR_025939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025939	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	551	cd00016	116734717,NP_000469
249	68067533	Disease	p.Glu452Lys	VAR_025939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025939	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	489	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Gly456Arg	VAR_011091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011091	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	560	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly456Arg	VAR_011091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011091	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	673	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly456Arg	VAR_011091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011091	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	555	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly456Arg	VAR_011091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011091	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	493	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Val459Met	VAR_013998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013998	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	563	smart00098	116734717,NP_000469
249	68067533	Disease	p.Val459Met	VAR_013998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013998	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	676	COG1785	116734717,NP_000469
249	68067533	Disease	p.Val459Met	VAR_013998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013998	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	558	cd00016	116734717,NP_000469
249	68067533	Disease	p.Val459Met	VAR_013998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013998	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	496	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Ala468Thr	VAR_025940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025940	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	572	smart00098	116734717,NP_000469
249	68067533	Disease	p.Ala468Thr	VAR_025940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025940	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	692	COG1785	116734717,NP_000469
249	68067533	Disease	p.Ala468Thr	VAR_025940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025940	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	567	cd00016	116734717,NP_000469
249	68067533	Disease	p.Ala468Thr	VAR_025940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025940	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	505	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Gly473Ser	VAR_013999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013999	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	584	smart00098	116734717,NP_000469
249	68067533	Disease	p.Gly473Ser	VAR_013999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013999	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	697	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly473Ser	VAR_013999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013999	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	584	cd00016	116734717,NP_000469
249	68067533	Disease	p.Gly473Ser	VAR_013999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013999	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	517	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Glu476Lys	VAR_006170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006170	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	587	smart00098	116734717,NP_000469
249	68067533	Disease	p.Glu476Lys	VAR_006170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006170	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	700	COG1785	116734717,NP_000469
249	68067533	Disease	p.Glu476Lys	VAR_006170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006170	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	587	cd00016	116734717,NP_000469
249	68067533	Disease	p.Glu476Lys	VAR_006170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006170	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	520	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Asn478Ile	VAR_011092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011092	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	589	smart00098	116734717,NP_000469
249	68067533	Disease	p.Asn478Ile	VAR_011092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011092	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	702	COG1785	116734717,NP_000469
249	68067533	Disease	p.Asn478Ile	VAR_011092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011092	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	589	cd00016	116734717,NP_000469
249	68067533	Disease	p.Asn478Ile	VAR_011092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011092	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	522	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Cys489Ser	VAR_011093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011093	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	600	smart00098	116734717,NP_000469
249	68067533	Disease	p.Cys489Ser	VAR_011093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011093	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	713	COG1785	116734717,NP_000469
249	68067533	Disease	p.Cys489Ser	VAR_011093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011093	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	600	cd00016	116734717,NP_000469
249	68067533	Disease	p.Cys489Ser	VAR_011093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011093	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	533	pfam00245	116734717,NP_000469
249	68067533	Disease	p.Ile490Phe	VAR_014000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014000	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	601	smart00098	116734717,NP_000469
249	68067533	Disease	p.Ile490Phe	VAR_014000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014000	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	714	COG1785	116734717,NP_000469
249	68067533	Disease	p.Gly491Arg	VAR_014001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014001	- Hypophosphatasia (HOPS) [MIM:241500]	SWISS	715	COG1785	116734717,NP_000469
257	215273931	Disease	p.Leu168Val	VAR_063226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063226	- Frontonasal dysplasia type 1 (FND1) [MIM:136760]	SWISS	20	smart00389	113204604,NP_006483
257	215273931	Disease	p.Leu168Val	VAR_063226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063226	- Frontonasal dysplasia type 1 (FND1) [MIM:136760]	SWISS	15	cd00086	113204604,NP_006483
257	215273931	Disease	p.Leu168Val	VAR_063226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063226	- Frontonasal dysplasia type 1 (FND1) [MIM:136760]	SWISS	15	pfam00046	113204604,NP_006483
257	215273931	Disease	p.Leu168Val	VAR_063226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063226	- Frontonasal dysplasia type 1 (FND1) [MIM:136760]	SWISS	66	COG5576	113204604,NP_006483
257	215273931	Disease	p.Arg183Trp	VAR_063227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063227	- Frontonasal dysplasia type 1 (FND1) [MIM:136760]	SWISS	49	smart00389	113204604,NP_006483
257	215273931	Disease	p.Arg183Trp	VAR_063227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063227	- Frontonasal dysplasia type 1 (FND1) [MIM:136760]	SWISS	41	cd00086	113204604,NP_006483
257	215273931	Disease	p.Arg183Trp	VAR_063227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063227	- Frontonasal dysplasia type 1 (FND1) [MIM:136760]	SWISS	35	pfam00046	113204604,NP_006483
257	215273931	Disease	p.Arg183Trp	VAR_063227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063227	- Frontonasal dysplasia type 1 (FND1) [MIM:136760]	SWISS	81	COG5576	113204604,NP_006483
257	215273931	Disease	p.Arg196Trp	VAR_063228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063228	- Frontonasal dysplasia type 1 (FND1) [MIM:136760]	SWISS	83	smart00389	113204604,NP_006483
257	215273931	Disease	p.Arg196Trp	VAR_063228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063228	- Frontonasal dysplasia type 1 (FND1) [MIM:136760]	SWISS	75	cd00086	113204604,NP_006483
257	215273931	Disease	p.Arg196Trp	VAR_063228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063228	- Frontonasal dysplasia type 1 (FND1) [MIM:136760]	SWISS	53	pfam00046	113204604,NP_006483
257	215273931	Disease	p.Arg196Trp	VAR_063228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063228	- Frontonasal dysplasia type 1 (FND1) [MIM:136760]	SWISS	96	COG5576	113204604,NP_006483
257	215273931	Disease	p.Asn203Ser	VAR_063229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063229	- Frontonasal dysplasia type 1 (FND1) [MIM:136760]	SWISS	90	smart00389	113204604,NP_006483
257	215273931	Disease	p.Asn203Ser	VAR_063229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063229	- Frontonasal dysplasia type 1 (FND1) [MIM:136760]	SWISS	82	cd00086	113204604,NP_006483
257	215273931	Disease	p.Asn203Ser	VAR_063229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063229	- Frontonasal dysplasia type 1 (FND1) [MIM:136760]	SWISS	60	pfam00046	113204604,NP_006483
257	215273931	Disease	p.Asn203Ser	VAR_063229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063229	- Frontonasal dysplasia type 1 (FND1) [MIM:136760]	SWISS	103	COG5576	113204604,NP_006483
60529	254763249	Disease	p.Arg218Gln	VAR_010785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010785	- Parietal foramina 2 (PFM2) [MIM:609597]	SWISS	55	COG5576	55743092,NP_068745
60529	254763249	Disease	p.Arg218Gln	VAR_010785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010785	- Parietal foramina 2 (PFM2) [MIM:609597]	SWISS	4	pfam00046	55743092,NP_068745
60529	254763249	Disease	p.Arg218Gln	VAR_010785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010785	- Parietal foramina 2 (PFM2) [MIM:609597]	SWISS	4	cd00086	55743092,NP_068745
60529	254763249	Disease	p.Arg218Gln	VAR_010785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010785	- Parietal foramina 2 (PFM2) [MIM:609597]	SWISS	4	smart00389	55743092,NP_068745
60529	254763249	Disease	p.Arg272Pro	VAR_010897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010897	- Parietal foramina 2 (PFM2) [MIM:609597]	SWISS	111	COG5576	55743092,NP_068745
60529	254763249	Disease	p.Arg272Pro	VAR_010897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010897	- Parietal foramina 2 (PFM2) [MIM:609597]	SWISS	90	cd00086	55743092,NP_068745
23600	13626118	Disease	p.Ser52Pro	VAR_010661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010661	- Alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:604489]	SWISS	85	COG1804	NULL
23600	13626118	Disease	p.Ser52Pro	VAR_010661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010661	- Congenital bile acid synthesis defect type 4 (CBAS4) [MIM:214950]	SWISS	85	COG1804	NULL
23600	13626118	Disease	p.Leu107Pro	VAR_010665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010665	- Congenital bile acid synthesis defect type 4 (CBAS4) [MIM:214950]	SWISS	141	COG1804	NULL
23600	13626118	Disease	p.Leu107Pro	VAR_010665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010665	- Congenital bile acid synthesis defect type 4 (CBAS4) [MIM:214950]	SWISS	79	pfam02515	NULL
265	1168430	Disease	p.Trp4Ser	VAR_037581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037581	- Amelogenesis imperfecta hypoplastic type 1 (AIH1) [MIM:301200]	SWISS	No Domain	N/A	4502071,NP_001133
265	1168430	Disease	p.Thr37Ile	VAR_037582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037582	- Amelogenesis imperfecta hypoplastic type 1 (AIH1) [MIM:301200]	SWISS	24	smart00818	4502071,NP_001133
265	1168430	Disease	p.Thr37Ile	VAR_037582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037582	- Amelogenesis imperfecta hypoplastic type 1 (AIH1) [MIM:301200]	SWISS	35	pfam02948	4502071,NP_001133
265	1168430	Disease	p.Pro56Thr	VAR_037583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037583	- Amelogenesis imperfecta hypoplastic type 1 (AIH1) [MIM:301200]	SWISS	44	smart00818	4502071,NP_001133
265	1168430	Disease	p.Pro56Thr	VAR_037583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037583	- Amelogenesis imperfecta hypoplastic type 1 (AIH1) [MIM:301200]	SWISS	55	pfam02948	4502071,NP_001133
268	160332382	Disease	p.Val12Gly	VAR_007483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007483	- Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]	SWISS	No Domain	N/A	NULL
268	160332382	Disease	p.Leu70Pro	VAR_007485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007485	- Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]	SWISS	No Domain	N/A	NULL
268	160332382	Disease	p.Gly101Val	VAR_007486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007486	- Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]	SWISS	27	pfam04709	NULL
268	160332382	Disease	p.Arg123Trp	VAR_007487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007487	- Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]	SWISS	49	pfam04709	NULL
268	160332382	Disease	p.Tyr167Cys	VAR_007488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007488	- Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]	SWISS	109	pfam04709	NULL
268	160332382	Disease	p.Arg194Cys	VAR_007490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007490	- Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]	SWISS	145	pfam04709	NULL
268	160332382	Disease	p.Val477Ala	VAR_007492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007492	- Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]	SWISS	20	smart00204	NULL
268	160332382	Disease	p.Val477Ala	VAR_007492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007492	- Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]	SWISS	23	pfam00019	NULL
268	160332382	Disease	p.His506Gln	VAR_031027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031027	- Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]	SWISS	57	smart00204	NULL
268	160332382	Disease	p.His506Gln	VAR_031027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031027	- Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]	SWISS	55	pfam00019	NULL
268	160332382	Disease	p.Cys525Tyr	VAR_031028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031028	- Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]	SWISS	83	smart00204	NULL
268	160332382	Disease	p.Cys525Tyr	VAR_031028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031028	- Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]	SWISS	76	pfam00019	NULL
269	9087133	Disease	p.Arg54Cys	VAR_015525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015525	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	No Domain	N/A	10198656,NP_065434
269	9087133	Disease	p.Gly142Val	VAR_015526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015526	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	No Domain	N/A	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	97	cd07841	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	144	cd00192	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	86	cd08529	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	88	cd06625	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	81	cd05044	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	76	cd05041	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	108	cd08215	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	84	cd08530	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	101	cd06632	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	73	cd06626	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	91	cd05036	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	100	cd05038	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	111	cd05033	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	124	cd05032	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	83	cd05068	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	82	cd05082	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	86	cd05039	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	134	cd05581	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	109	cd07829	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	90	cd05118	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	85	cd08224	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	80	cd05083	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	112	cd06614	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	90	cd05080	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	374	smart00221	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	246	smart00219	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	138	pfam00069	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	133	pfam07714	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	100	cd05099	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	307	smart00220	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	106	cd06623	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	81	cd05112	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	89	cd05081	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	83	cd05073	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	82	cd05067	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	83	cd05034	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	82	cd05069	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	85	cd05148	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	83	cd05072	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	87	cd06627	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	106	cd05122	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	94	cd07832	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	157	cd06606	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	116	cd05123	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	78	cd05577	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	249	cd00180	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	92	cd05049	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	92	cd06624	10198656,NP_065434
269	9087133	Disease	p.His282Gln	VAR_015527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015527	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	117	cd05056	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	218_G	cd07841	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	418_G	cd00192	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	218	cd08529	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	189	cd06625	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	198	cd05044	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	177	cd05041	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	244	cd08215	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	188_G	cd08530	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	206_G	cd06632	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	226	cd06626	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	203	cd05036	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	217	cd05038	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	225_G	cd05033	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	245	cd05032	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	188_G	cd05068	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	178_G	cd05082	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	179	cd05039	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	431_G	cd05581	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	236_G	cd07829	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	192	cd05118	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	186_G	cd08224	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	176	cd05083	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	233_G	cd06614	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	190_G	cd05080	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	834	smart00221	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	562	smart00219	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	331	pfam00069	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	377_G	pfam07714	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	216_G	cd05099	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	761	smart00220	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	238	cd06623	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	180	cd05112	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	190	cd05081	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	183	cd05073	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	182	cd05067	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	193_G	cd05034	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	182	cd05069	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	185	cd05148	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	183	cd05072	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	224	cd06627	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	225_G	cd05122	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	203_G	cd07832	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	325	cd06606	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	791	cd05123	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	181_G	cd05577	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	664	cd00180	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	209	cd05049	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	196_G	cd06624	10198656,NP_065434
269	9087133	Disease	p.Arg406Gln	VAR_015528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015528	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	219_G	cd05056	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	238	cd07841	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	444	cd00192	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	247	cd08529	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	212	cd06625	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	214_G	cd05044	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	193_G	cd05041	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	265_G	cd08215	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	203_G	cd08530	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	220_G	cd06632	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	247	cd06626	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	219_G	cd05036	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	245	cd05038	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	243_G	cd05033	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	261_G	cd05032	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	206_G	cd05068	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	194_G	cd05082	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	207	cd05039	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	445_G	cd05581	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	255	cd07829	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	218	cd05118	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	202_G	cd08224	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	198	cd05083	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	248_G	cd06614	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	207_G	cd05080	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	866	smart00221	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	590	smart00219	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	362	pfam00069	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	396	pfam07714	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	233_G	cd05099	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	794	smart00220	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	259	cd06623	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	198_G	cd05112	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	208_G	cd05081	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	199_G	cd05073	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	204	cd05067	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	209_G	cd05034	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	200_G	cd05069	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	208	cd05148	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	201_G	cd05072	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	239_G	cd06627	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	244	cd05122	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	226	cd07832	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	344_G	cd06606	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	809_G	cd05123	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	194_G	cd05577	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	684	cd00180	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	233	cd05049	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	215	cd06624	10198656,NP_065434
269	9087133	Disease	p.Asp426Gly	VAR_015529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015529	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	238	cd05056	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	267	cd07841	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	465	cd00192	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	235	cd06625	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	232	cd05044	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	204	cd05041	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	284	cd08215	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	220	cd08530	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	245_G	cd06632	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	282	cd06626	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	238	cd05036	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	278	cd05038	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	260	cd05033	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	280	cd05032	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	223	cd05068	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	205	cd05082	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	216_G	cd05039	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	466	cd05581	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	294	cd07829	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	242	cd05118	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	220	cd08224	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	210	cd05083	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	281_G	cd06614	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	238	cd05080	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	979	smart00221	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	649	smart00219	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	421	pfam00069	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	435	pfam07714	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	249	cd05099	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	1076	smart00220	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	297	cd06623	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	216	cd05112	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	240	cd05081	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	214	cd05073	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	240	cd05067	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	224	cd05034	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	214	cd05069	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	244	cd05148	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	219	cd05072	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	259_G	cd06627	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	310_G	cd05122	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	262	cd07832	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	367	cd06606	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	834	cd05123	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	218	cd05577	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	810	cd00180	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	253	cd05049	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	242	cd06624	10198656,NP_065434
269	9087133	Disease	p.Val458Ala	VAR_015530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015530	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	252	cd05056	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	321	cd07841	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	506	cd00192	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	259	cd05044	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	238	cd05041	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	322	cd08215	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	248	cd08530	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	267	cd06632	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	264	cd05036	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	312	cd05038	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	285	cd05033	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	310	cd05032	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	249	cd05068	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	239	cd05082	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	247	cd05039	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	514	cd05581	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	349	cd07829	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	295	cd05118	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	250	cd08224	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	237	cd05083	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	295	cd06614	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	264	cd05080	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	686	smart00219	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	453	pfam00069	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	468	pfam07714	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	276	cd05099	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	1193	smart00220	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	325	cd06623	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	241	cd05112	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	266	cd05081	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	244	cd05073	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	269	cd05067	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	256	cd05034	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	243	cd05069	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	279	cd05148	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	244	cd05072	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	287	cd06627	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	338	cd05122	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	298	cd07832	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	414	cd06606	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	908	cd05123	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	244	cd05577	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	847	cd00180	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	277	cd05049	10198656,NP_065434
269	9087133	Disease	p.Asp491His	VAR_015531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015531	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	280	cd05056	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	335	cd07841	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	522	cd00192	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	272	cd05044	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	251	cd05041	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	335	cd08215	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	261	cd08530	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	277_G	cd06632	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	277	cd05036	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	325	cd05038	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	298	cd05033	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	323	cd05032	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	262	cd05068	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	252	cd05082	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	263	cd05039	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	536	cd05581	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	357_G	cd07829	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	303_G	cd05118	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	266	cd08224	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	250	cd05083	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	321	cd06614	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	277	cd05080	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	703	smart00219	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	471	pfam00069	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	484	pfam07714	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	289	cd05099	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	1247	smart00220	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	347	cd06623	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	254	cd05112	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	279	cd05081	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	257	cd05073	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	282	cd05067	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	269	cd05034	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	256	cd05069	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	292	cd05148	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	257	cd05072	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	347_G	cd05122	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	313	cd07832	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	252	cd05577	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	297	cd05049	10198656,NP_065434
269	9087133	Disease	p.Arg504Cys	VAR_015532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015532	- Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]	SWISS	293	cd05056	10198656,NP_065434
81693	296434395	Disease	p.Thr41Ile	VAR_015733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015733	rs28939377 Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]	SWISS	No Domain	N/A	110611172,NP_112205
270	113697	Disease	p.Arg388Trp	VAR_013271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013271	rs35859650 Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]	SWISS	230	cd01319	NULL
270	113697	Disease	p.Arg388Trp	VAR_013271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013271	rs35859650 Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]	SWISS	93	pfam00962	NULL
270	113697	Disease	p.Arg388Trp	VAR_013271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013271	rs35859650 Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]	SWISS	38	COG1816	NULL
270	113697	Disease	p.Arg388Trp	VAR_013271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013271	rs35859650 Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]	SWISS	127	cd01292	NULL
270	113697	Disease	p.Arg388Trp	VAR_013271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013271	rs35859650 Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]	SWISS	108	cd00443	NULL
270	113697	Disease	p.Arg425His	VAR_013272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013272	- Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]	SWISS	267	cd01319	NULL
270	113697	Disease	p.Arg425His	VAR_013272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013272	- Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]	SWISS	130	pfam00962	NULL
270	113697	Disease	p.Arg425His	VAR_013272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013272	- Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]	SWISS	75	COG1816	NULL
270	113697	Disease	p.Arg425His	VAR_013272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013272	- Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]	SWISS	171	cd01292	NULL
270	113697	Disease	p.Arg425His	VAR_013272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013272	- Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]	SWISS	164	cd00443	NULL
272	399033	Disease	p.Asn310Lys	VAR_042606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042606	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	89	cd01319	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Val311Leu	VAR_042607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042607	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	90	cd01319	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Val311Leu	VAR_042607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042607	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	2	pfam00962	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Ala320Val	VAR_042608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042608	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	99	cd01319	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Ala320Val	VAR_042608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042608	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	11	pfam00962	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Ala320Val	VAR_042608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042608	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	11	cd00443	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Ala320Val	VAR_042608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042608	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	9	cd01292	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Met324Thr	VAR_042609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042609	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	103	cd01319	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Met324Thr	VAR_042609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042609	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	15	pfam00962	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Met324Thr	VAR_042609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042609	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	15	cd00443	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Met324Thr	VAR_042609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042609	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	13	cd01292	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg331Cys	VAR_042610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042610	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	110	cd01319	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg331Cys	VAR_042610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042610	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	22	pfam00962	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg331Cys	VAR_042610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042610	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	22	cd00443	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg331Cys	VAR_042610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042610	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	20	cd01292	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg402Cys	VAR_042611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042611	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	230	cd01319	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg402Cys	VAR_042611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042611	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	93	pfam00962	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg402Cys	VAR_042611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042611	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	38	COG1816	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg402Cys	VAR_042611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042611	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	108	cd00443	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg402Cys	VAR_042611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042611	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	127	cd01292	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Trp450Arg	VAR_042612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042612	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	278	cd01319	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Trp450Arg	VAR_042612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042612	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	141	pfam00962	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Trp450Arg	VAR_042612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042612	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	98	COG1816	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Trp450Arg	VAR_042612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042612	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	187	cd00443	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Trp450Arg	VAR_042612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042612	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	182	cd01292	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg573Cys	VAR_009881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009881	rs3741040 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	402	cd01319	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg573Cys	VAR_009881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009881	rs3741040 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	302	pfam00962	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg573Cys	VAR_009881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009881	rs3741040 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	231	COG1816	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg573Cys	VAR_009881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009881	rs3741040 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	351	cd00443	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Arg573Cys	VAR_009881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009881	rs3741040 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	355	cd01292	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Pro585Leu	VAR_042614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042614	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	414	cd01319	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Pro585Leu	VAR_042614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042614	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	314	pfam00962	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Pro585Leu	VAR_042614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042614	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	243	COG1816	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Pro585Leu	VAR_042614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042614	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	363	cd00443	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Pro585Leu	VAR_042614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042614	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	367	cd01292	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Gln712Pro	VAR_042615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042615	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	541	cd01319	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Gln712Pro	VAR_042615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042615	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	466	pfam00962	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Gln712Pro	VAR_042615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042615	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	436	COG1816	289063415,NP_001165901|70906426,NP_001020560
272	399033	Disease	p.Gln712Pro	VAR_042615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042615	- Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]	SWISS	648	cd00443	289063415,NP_001165901|70906426,NP_001020560
275	1346122	Disease	p.His42Arg	VAR_007951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007951	- Non-ketotic hyperglycinemia (NKH) [MIM:605899]	SWISS	14	COG0404	44662838,NP_000472
275	1346122	Disease	p.Gly47Arg	VAR_007952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007952	- Non-ketotic hyperglycinemia (NKH) [MIM:605899]	SWISS	19	COG0404	44662838,NP_000472
275	1346122	Disease	p.Asn145Ile	VAR_016847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016847	- Non-ketotic hyperglycinemia (NKH) [MIM:605899]	SWISS	118	pfam01571	44662838,NP_000472
275	1346122	Disease	p.Asn145Ile	VAR_016847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016847	- Non-ketotic hyperglycinemia (NKH) [MIM:605899]	SWISS	177	COG0404	44662838,NP_000472
275	1346122	Disease	p.Glu211Lys	VAR_016848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016848	- Non-ketotic hyperglycinemia (NKH) [MIM:605899]	SWISS	268	pfam01571	44662838,NP_000472
275	1346122	Disease	p.Glu211Lys	VAR_016848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016848	- Non-ketotic hyperglycinemia (NKH) [MIM:605899]	SWISS	260	COG0404	44662838,NP_000472
275	1346122	Disease	p.Gly269Asp	VAR_007953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007953	- Non-ketotic hyperglycinemia (NKH) [MIM:605899]	SWISS	387	pfam01571	44662838,NP_000472
275	1346122	Disease	p.Gly269Asp	VAR_007953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007953	- Non-ketotic hyperglycinemia (NKH) [MIM:605899]	SWISS	347	COG0404	44662838,NP_000472
275	1346122	Disease	p.Asp276His	VAR_007954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007954	- Non-ketotic hyperglycinemia (NKH) [MIM:605899]	SWISS	404	pfam01571	44662838,NP_000472
275	1346122	Disease	p.Asp276His	VAR_007954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007954	- Non-ketotic hyperglycinemia (NKH) [MIM:605899]	SWISS	354	COG0404	44662838,NP_000472
275	1346122	Disease	p.Arg320His	VAR_007955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007955	- Non-ketotic hyperglycinemia (NKH) [MIM:605899]	SWISS	420	COG0404	44662838,NP_000472
275	1346122	Disease	p.Arg320His	VAR_007955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007955	- Non-ketotic hyperglycinemia (NKH) [MIM:605899]	SWISS	33	pfam08669	44662838,NP_000472
283	113873	Disease	p.Phe12Ser	VAR_044145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044145	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	No Domain	N/A	NULL
283	113873	Disease	p.Pro20Ser	VAR_044146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044146	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	No Domain	N/A	NULL
283	113873	Disease	p.Gln36Leu	VAR_044147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044147	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	10	pfam00074	NULL
283	113873	Disease	p.Gln36Leu	VAR_044147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044147	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	9	cd06265	NULL
283	113873	Disease	p.Gln36Leu	VAR_044147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044147	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	9	cd00163	NULL
283	113873	Disease	p.Gln36Leu	VAR_044147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044147	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	11	smart00092	NULL
283	113873	Disease	p.Lys41Glu	VAR_044148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044148	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	25	pfam00074	NULL
283	113873	Disease	p.Lys41Glu	VAR_044148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044148	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	14	cd06265	NULL
283	113873	Disease	p.Lys41Glu	VAR_044148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044148	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	14	cd00163	NULL
283	113873	Disease	p.Lys41Glu	VAR_044148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044148	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	16	smart00092	NULL
283	113873	Disease	p.Lys41Ile	VAR_044149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044149	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	25	pfam00074	NULL
283	113873	Disease	p.Lys41Ile	VAR_044149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044149	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	14	cd06265	NULL
283	113873	Disease	p.Lys41Ile	VAR_044149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044149	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	14	cd00163	NULL
283	113873	Disease	p.Lys41Ile	VAR_044149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044149	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	16	smart00092	NULL
283	113873	Disease	p.Ser52Asn	VAR_044150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044150	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	44	pfam00074	NULL
283	113873	Disease	p.Ser52Asn	VAR_044150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044150	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	28	cd06265	NULL
283	113873	Disease	p.Ser52Asn	VAR_044150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044150	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	31	cd00163	NULL
283	113873	Disease	p.Ser52Asn	VAR_044150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044150	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	32	smart00092	NULL
283	113873	Disease	p.Arg55Lys	VAR_044151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044151	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	47	pfam00074	NULL
283	113873	Disease	p.Arg55Lys	VAR_044151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044151	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	31	cd06265	NULL
283	113873	Disease	p.Arg55Lys	VAR_044151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044151	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	34	cd00163	NULL
283	113873	Disease	p.Arg55Lys	VAR_044151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044151	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	35	smart00092	NULL
283	113873	Disease	p.Cys63Trp	VAR_044152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044152	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	64	pfam00074	NULL
283	113873	Disease	p.Cys63Trp	VAR_044152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044152	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	44	cd06265	NULL
283	113873	Disease	p.Cys63Trp	VAR_044152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044152	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	45	cd00163	NULL
283	113873	Disease	p.Cys63Trp	VAR_044152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044152	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	47	smart00092	NULL
283	113873	Disease	p.Lys64Ile	VAR_044153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044153	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	65	pfam00074	NULL
283	113873	Disease	p.Lys64Ile	VAR_044153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044153	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	45	cd06265	NULL
283	113873	Disease	p.Lys64Ile	VAR_044153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044153	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	46	cd00163	NULL
283	113873	Disease	p.Lys64Ile	VAR_044153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044153	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	48	smart00092	NULL
283	113873	Disease	p.Pro136Leu	VAR_044155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044155	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	158	pfam00074	NULL
283	113873	Disease	p.Pro136Leu	VAR_044155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044155	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	195	cd06265	NULL
283	113873	Disease	p.Pro136Leu	VAR_044155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044155	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	138	cd00163	NULL
283	113873	Disease	p.Pro136Leu	VAR_044155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044155	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	154	smart00092	NULL
283	113873	Disease	p.Val137Ile	VAR_044156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044156	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	159	pfam00074	NULL
283	113873	Disease	p.Val137Ile	VAR_044156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044156	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	196	cd06265	NULL
283	113873	Disease	p.Val137Ile	VAR_044156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044156	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	139	cd00163	NULL
283	113873	Disease	p.Val137Ile	VAR_044156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044156	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	155	smart00092	NULL
283	113873	Disease	p.His138Arg	VAR_044157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044157	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	160	pfam00074	NULL
283	113873	Disease	p.His138Arg	VAR_044157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044157	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	197	cd06265	NULL
283	113873	Disease	p.His138Arg	VAR_044157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044157	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	140	cd00163	NULL
283	113873	Disease	p.His138Arg	VAR_044157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044157	- Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]	SWISS	156	smart00092	NULL
286	116241246	Disease	p.Leu276Arg	VAR_054991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054991	- Spherocytosis type 1 (SPH1) [MIM:182900]	SWISS	6	pfam00023	70780359,NP_065209
286	116241246	Disease	p.Leu276Arg	VAR_054991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054991	- Spherocytosis type 1 (SPH1) [MIM:182900]	SWISS	6	smart00248	70780359,NP_065209
286	116241246	Disease	p.Leu276Arg	VAR_054991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054991	- Spherocytosis type 1 (SPH1) [MIM:182900]	SWISS	22	cd00204	70780359,NP_065209
286	116241246	Disease	p.Leu276Arg	VAR_054991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054991	- Spherocytosis type 1 (SPH1) [MIM:182900]	SWISS	488	COG0666	70780359,NP_065209
286	116241246	Disease	p.Val463Ile	VAR_000596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000596	- Spherocytosis type 1 (SPH1) [MIM:182900]	SWISS	198	cd00204	70780359,NP_065209
286	116241246	Disease	p.Val463Ile	VAR_000596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000596	- Spherocytosis type 1 (SPH1) [MIM:182900]	SWISS	54	pfam00023	70780359,NP_065209
286	116241246	Disease	p.Val463Ile	VAR_000596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000596	- Spherocytosis type 1 (SPH1) [MIM:182900]	SWISS	51	smart00248	70780359,NP_065209
286	116241246	Disease	p.Val463Ile	VAR_000596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000596	- Spherocytosis type 1 (SPH1) [MIM:182900]	SWISS	292	COG0666	70780359,NP_065209
286	116241246	Disease	p.Ile1054Thr	VAR_054992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054992	- Spherocytosis type 1 (SPH1) [MIM:182900]	SWISS	No Domain	N/A	70780359,NP_065209
287	215274185	Disease	p.Glu1425Gly	VAR_022934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022934	- Long QT syndrome type 4 (LQT4) [MIM:600919]	SWISS	No Domain	N/A	NULL
287	215274185	Disease	p.Leu3707Ile	VAR_022935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022935	- Long QT syndrome type 4 (LQT4) [MIM:600919]	SWISS	No Domain	N/A	NULL
287	215274185	Disease	p.Thr3711Asn	VAR_022936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022936	- Long QT syndrome type 4 (LQT4) [MIM:600919]	SWISS	No Domain	N/A	NULL
287	215274185	Disease	p.Arg3873Trp	VAR_022937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022937	- Long QT syndrome type 4 (LQT4) [MIM:600919]	SWISS	No Domain	N/A	NULL
287	215274185	Disease	p.Glu3898Lys	VAR_022938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022938	- Long QT syndrome type 4 (LQT4) [MIM:600919]	SWISS	No Domain	N/A	NULL
56172	17366849	Disease	p.Pro5Leu	VAR_022606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022606	- Chondrocalcinosis 2 (CCAL2) [MIM:118600]	SWISS	5	pfam07260	16905507,NP_473368
56172	17366849	Disease	p.Pro5Thr	VAR_022607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022607	- Chondrocalcinosis 2 (CCAL2) [MIM:118600]	SWISS	5	pfam07260	16905507,NP_473368
56172	17366849	Disease	p.Met48Thr	VAR_017556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017556	- Chondrocalcinosis 2 (CCAL2) [MIM:118600]	SWISS	48	pfam07260	16905507,NP_473368
56172	17366849	Disease	p.Trp292Arg	VAR_012192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012192	- Craniometaphyseal dysplasia Jackson type (CMDJ) [MIM:123000]	SWISS	292	pfam07260	16905507,NP_473368
56172	17366849	Disease	p.Cys331Arg	VAR_012193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012193	- Craniometaphyseal dysplasia Jackson type (CMDJ) [MIM:123000]	SWISS	331	pfam07260	16905507,NP_473368
56172	17366849	Disease	p.Gly389Arg	VAR_012198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012198	rs28939080 Craniometaphyseal dysplasia Jackson type (CMDJ) [MIM:123000]	SWISS	No Domain	N/A	16905507,NP_473368
27063	109940213	Disease	p.Thr116Met	VAR_047112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047112	- Total anomalous pulmonary venous return (TAPVR) [MIM:106700]	SWISS	34	COG0666	38327522,NP_055206
203859	74749827	Disease	p.Gly231Val	VAR_063582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063582	- Limb-girdle muscular dystrophy type 2L dysplasia (LGMD2L) [MIM:611307]	SWISS	No Domain	N/A	47106048,NP_998764
203859	74749827	Disease	p.Cys356Gly	VAR_023524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023524	- Gnathodiaphyseal dysplasia (GDD) [MIM:166260]	SWISS	214	pfam04547	47106048,NP_998764
203859	74749827	Disease	p.Cys356Arg	VAR_023525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023525	- Gnathodiaphyseal dysplasia (GDD) [MIM:166260]	SWISS	214	pfam04547	47106048,NP_998764
203859	74749827	Disease	p.Arg758Cys	VAR_063583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063583	- Miyoshi muscular dystrophy type 3 (MMD3) [MIM:613319]	SWISS	1250	pfam04547	47106048,NP_998764
118429	306526289	Disease	p.Leu45Pro	VAR_022687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022687	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	5	smart00327	224809466,NP_001139266
118429	306526289	Disease	p.Leu45Pro	VAR_022687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022687	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	7	cd01474	224809466,NP_001139266
118429	306526289	Disease	p.Leu45Pro	VAR_022687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022687	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	3	cd00198	224809466,NP_001139266
118429	306526289	Disease	p.Leu45Pro	VAR_022687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022687	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	3	cd01465	224809466,NP_001139266
118429	306526289	Disease	p.Leu45Pro	VAR_022687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022687	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	3	cd01469	224809466,NP_001139266
118429	306526289	Disease	p.Leu45Pro	VAR_022687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022687	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	3	cd01471	224809466,NP_001139266
118429	306526289	Disease	p.Leu45Pro	VAR_022687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022687	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	3	cd01450	224809466,NP_001139266
118429	306526289	Disease	p.Leu45Pro	VAR_022687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022687	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	3	cd01476	224809466,NP_001139266
118429	306526289	Disease	p.Leu45Pro	VAR_022687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022687	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	3	cd01472	224809466,NP_001139266
118429	306526289	Disease	p.Leu45Pro	VAR_022687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022687	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	2	pfam00092	224809466,NP_001139266
118429	306526289	Disease	p.Leu45Pro	VAR_022687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022687	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	5	cd01480	224809466,NP_001139266
118429	306526289	Disease	p.Leu45Pro	VAR_022687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022687	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	5	cd01467	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	VAR_022688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022688	- Juvenile hyaline fibromatosis (JHF) [MIM:228600]	SWISS	223	smart00327	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	VAR_022688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022688	- Juvenile hyaline fibromatosis (JHF) [MIM:228600]	SWISS	75	cd01474	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	VAR_022688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022688	- Juvenile hyaline fibromatosis (JHF) [MIM:228600]	SWISS	156	cd00198	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	VAR_022688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022688	- Juvenile hyaline fibromatosis (JHF) [MIM:228600]	SWISS	65_G	cd01465	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	VAR_022688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022688	- Juvenile hyaline fibromatosis (JHF) [MIM:228600]	SWISS	65	cd01469	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	VAR_022688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022688	- Juvenile hyaline fibromatosis (JHF) [MIM:228600]	SWISS	67	cd01471	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	VAR_022688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022688	- Juvenile hyaline fibromatosis (JHF) [MIM:228600]	SWISS	111	cd01450	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	VAR_022688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022688	- Juvenile hyaline fibromatosis (JHF) [MIM:228600]	SWISS	74	cd01476	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	VAR_022688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022688	- Juvenile hyaline fibromatosis (JHF) [MIM:228600]	SWISS	89	cd01472	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	VAR_022688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022688	- Juvenile hyaline fibromatosis (JHF) [MIM:228600]	SWISS	100	pfam00092	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	VAR_022688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022688	- Juvenile hyaline fibromatosis (JHF) [MIM:228600]	SWISS	94	cd01480	224809466,NP_001139266
118429	306526289	Disease	p.Gly105Asp	VAR_022688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022688	- Juvenile hyaline fibromatosis (JHF) [MIM:228600]	SWISS	75	cd01467	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	VAR_022689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022689	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	628	smart00327	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	VAR_022689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022689	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	166	cd01474	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	VAR_022689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022689	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	331	cd00198	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	VAR_022689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022689	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	156	cd01465	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	VAR_022689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022689	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	163	cd01469	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	VAR_022689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022689	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	157	cd01471	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	VAR_022689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022689	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	265	cd01450	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	VAR_022689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022689	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	167	cd01476	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	VAR_022689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022689	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	198	cd01472	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	VAR_022689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022689	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	250	pfam00092	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	VAR_022689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022689	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	199	cd01480	224809466,NP_001139266
118429	306526289	Disease	p.Ile189Thr	VAR_022689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022689	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	179	cd01467	224809466,NP_001139266
118429	306526289	Disease	p.Cys218Arg	VAR_022690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022690	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	195	cd01474	224809466,NP_001139266
118429	306526289	Disease	p.Cys218Arg	VAR_022690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022690	- Infantile systemic hyalinosis (ISH) [MIM:236490]	SWISS	5	pfam05587	224809466,NP_001139266
118429	306526289	Disease	p.Leu329Arg	VAR_022692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022692	- Juvenile hyaline fibromatosis (JHF) [MIM:228600]	SWISS	No Domain	N/A	224809466,NP_001139266
118429	306526289	Disease	p.Tyr381Cys	VAR_022694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022694	- Juvenile hyaline fibromatosis (JHF) [MIM:228600]	SWISS	No Domain	N/A	224809466,NP_001139266
8546	254763431	Disease	p.Leu580Arg	VAR_011596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011596	- Hermansky-Pudlak syndrome type 2 (HPS2) [MIM:608233]	SWISS	820	pfam01602	32484979,NP_003655
8546	254763431	Disease	p.Leu580Arg	VAR_011596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011596	- Hermansky-Pudlak syndrome type 2 (HPS2) [MIM:608233]	SWISS	763	COG5096	32484979,NP_003655
147495	74728445	Disease	p.Leu9Arg	VAR_063497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063497	- Hypotrichosis simplex (HTS) [MIM:605389]	SWISS	No Domain	N/A	23308597,NP_694545
335	113992	Disease	p.Gly50Arg	VAR_000609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000609	rs28931574 Amyloid polyneuropathy-nephropathy Iowa type (AMYLIOWA) [MIM:107680]	SWISS	No Domain	N/A	4557321,NP_000030
335	113992	Disease	p.Leu84Arg	VAR_000610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000610	- Amyloidosis type 8 (AMYL8) [MIM:105200]	SWISS	17	pfam01442	4557321,NP_000030
338	300669605	Disease	p.Arg490Trp	VAR_022610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022610	- Familial hypobetalipoproteinemia (FHBL) [MIM:107730]	SWISS	762	pfam01347	NULL
338	300669605	Disease	p.Arg490Trp	VAR_022610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022610	- Familial hypobetalipoproteinemia (FHBL) [MIM:107730]	SWISS	949	smart00638	NULL
338	300669605	Disease	p.Arg3527Gln	VAR_005025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005025	rs5742904 Familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010]	SWISS	No Domain	N/A	NULL
338	300669605	Disease	p.Arg3558Cys	VAR_005026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005026	rs12713559 Familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010]	SWISS	No Domain	N/A	NULL
344	114022	Disease	p.Trp48Arg	VAR_000640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000640	- Hyperlipoproteinemia type 1B (HLPP1B) [MIM:207750]	SWISS	25	pfam05355	32130518,NP_000474
345	114026	Disease	p.Lys78Glu	VAR_000643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000643	- Hyperalphalipoproteinemia [MIM:143470]	SWISS	78	pfam05778	4557323,NP_000031
348	114039	Disease	p.Glu31Lys	VAR_000646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000646	- Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]	SWISS	No Domain	N/A	4557325,NP_000032
348	114039	Disease	p.Arg43Cys	VAR_042734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042734	- Lipoprotein glomerulopathy (LPG) [MIM:611771]	SWISS	No Domain	N/A	4557325,NP_000032
348	114039	Disease	p.Cys130Arg	VAR_000652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000652	rs429358 Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]	SWISS	60	pfam01442	4557325,NP_000032
348	114039	Disease	p.Arg154Cys	VAR_000657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000657	- Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]	SWISS	84	pfam01442	4557325,NP_000032
348	114039	Disease	p.Arg154Ser	VAR_000656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000656	- Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]	SWISS	84	pfam01442	4557325,NP_000032
348	114039	Disease	p.Arg160Cys	VAR_000658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000658	- Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]	SWISS	90	pfam01442	4557325,NP_000032
348	114039	Disease	p.Arg163Cys	VAR_000659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000659	rs769455 Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]	SWISS	93	pfam01442	4557325,NP_000032
348	114039	Disease	p.Arg163Pro	VAR_042735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042735	- Lipoprotein glomerulopathy (LPG) [MIM:611771]	SWISS	93	pfam01442	4557325,NP_000032
348	114039	Disease	p.Lys164Glu	VAR_000662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000662	- Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]	SWISS	94	pfam01442	4557325,NP_000032
348	114039	Disease	p.Lys164Gln	VAR_000661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000661	- Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]	SWISS	94	pfam01442	4557325,NP_000032
348	114039	Disease	p.Arg176Cys	VAR_000664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000664	rs7412 Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]	SWISS	112	pfam01442	4557325,NP_000032
351	112927	Disease	p.Asp678Asn	VAR_044424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044424	- Alzheimer disease type 1 (AD1) [MIM:104300]	SWISS	4	pfam03494	4502167,NP_000475
351	112927	Disease	p.Ala692Gly	VAR_000016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000016	- Alzheimer disease type 1 (AD1) [MIM:104300]	SWISS	18	pfam03494	4502167,NP_000475
351	112927	Disease	p.Glu693Gly	VAR_014215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014215	- Alzheimer disease type 1 (AD1) [MIM:104300]	SWISS	19	pfam03494	4502167,NP_000475
351	112927	Disease	p.Glu693Lys	VAR_014216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014216	- Amyloidosis cerebroarterial Italian type (AMYLCAIT) [MIM:605714]	SWISS	19	pfam03494	4502167,NP_000475
351	112927	Disease	p.Glu693Gln	VAR_000017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000017	- Amyloidosis cerebroarterial Dutch type (AMYLCAD) [MIM:605714]	SWISS	19	pfam03494	4502167,NP_000475
351	112927	Disease	p.Asp694Asn	VAR_014217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014217	- Amyloidosis cerebroarterial Iowa type (AMYLCAIW) [MIM:605714]	SWISS	20	pfam03494	4502167,NP_000475
351	112927	Disease	p.Leu705Val	VAR_032276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032276	- Amyloidosis cerebroarterial Italian type (AMYLCAIT) [MIM:605714]	SWISS	31	pfam03494	4502167,NP_000475
351	112927	Disease	p.Ala713Thr	VAR_000019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000019	- Alzheimer disease type 1 (AD1) [MIM:104300]	SWISS	No Domain	N/A	4502167,NP_000475
351	112927	Disease	p.Thr714Ala	VAR_032277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032277	- Alzheimer disease type 1 (AD1) [MIM:104300]	SWISS	No Domain	N/A	4502167,NP_000475
351	112927	Disease	p.Thr714Ile	VAR_014218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014218	- Alzheimer disease type 1 (AD1) [MIM:104300]	SWISS	No Domain	N/A	4502167,NP_000475
351	112927	Disease	p.Val715Met	VAR_010108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010108	- Alzheimer disease type 1 (AD1) [MIM:104300]	SWISS	2	pfam10515	4502167,NP_000475
351	112927	Disease	p.Ile716Val	VAR_000020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000020	- Alzheimer disease type 1 (AD1) [MIM:104300]	SWISS	3	pfam10515	4502167,NP_000475
351	112927	Disease	p.Val717Phe	VAR_000023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000023	- Alzheimer disease type 1 (AD1) [MIM:104300]	SWISS	4	pfam10515	4502167,NP_000475
351	112927	Disease	p.Val717Gly	VAR_000022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000022	- Alzheimer disease type 1 (AD1) [MIM:104300]	SWISS	4	pfam10515	4502167,NP_000475
351	112927	Disease	p.Val717Ile	VAR_000021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000021	- Alzheimer disease type 1 (AD1) [MIM:104300]	SWISS	4	pfam10515	4502167,NP_000475
351	112927	Disease	p.Val717Leu	VAR_014219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014219	- Alzheimer disease type 1 (AD1) [MIM:104300]	SWISS	4	pfam10515	4502167,NP_000475
351	112927	Disease	p.Leu723Pro	VAR_010109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010109	- Alzheimer disease type 1 (AD1) [MIM:104300]	SWISS	10	pfam10515	4502167,NP_000475
353	114074	Disease	p.Asp65Val	VAR_006747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006747	- Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]	SWISS	57	pfam00156	4502171,NP_000476
353	114074	Disease	p.Asp65Val	VAR_006747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006747	- Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]	SWISS	76	COG0503	4502171,NP_000476
353	114074	Disease	p.Leu110Pro	VAR_006748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006748	- Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]	SWISS	190	pfam00156	4502171,NP_000476
353	114074	Disease	p.Leu110Pro	VAR_006748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006748	- Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]	SWISS	129	COG0503	4502171,NP_000476
353	114074	Disease	p.Met136Thr	VAR_006749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006749	rs28999113 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]	SWISS	217	pfam00156	4502171,NP_000476
353	114074	Disease	p.Met136Thr	VAR_006749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006749	rs28999113 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]	SWISS	158	COG0503	4502171,NP_000476
353	114074	Disease	p.Val150Phe	VAR_022608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022608	- Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]	SWISS	244	pfam00156	4502171,NP_000476
353	114074	Disease	p.Val150Phe	VAR_022608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022608	- Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]	SWISS	172	COG0503	4502171,NP_000476
353	114074	Disease	p.Cys153Arg	VAR_022609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022609	- Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]	SWISS	247	pfam00156	4502171,NP_000476
353	114074	Disease	p.Cys153Arg	VAR_022609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022609	- Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]	SWISS	175	COG0503	4502171,NP_000476
54840	48428038	Disease	p.Lys211Gln	VAR_018794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018794	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	74	pfam11969	305410829,NP_001182177
54840	48428038	Disease	p.Lys211Gln	VAR_018794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018794	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	36	cd01278	305410829,NP_001182177
54840	48428038	Disease	p.Lys211Gln	VAR_018794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018794	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	24	pfam01230	305410829,NP_001182177
54840	48428038	Disease	p.Lys211Gln	VAR_018794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018794	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	32	cd01276	305410829,NP_001182177
54840	48428038	Disease	p.Lys211Gln	VAR_018794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018794	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	37	cd00468	305410829,NP_001182177
54840	48428038	Disease	p.Ala212Val	VAR_018795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018795	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	84	pfam11969	305410829,NP_001182177
54840	48428038	Disease	p.Ala212Val	VAR_018795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018795	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	37	cd01278	305410829,NP_001182177
54840	48428038	Disease	p.Ala212Val	VAR_018795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018795	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	25	pfam01230	305410829,NP_001182177
54840	48428038	Disease	p.Ala212Val	VAR_018795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018795	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	33	cd01276	305410829,NP_001182177
54840	48428038	Disease	p.Ala212Val	VAR_018795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018795	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	38	cd00468	305410829,NP_001182177
54840	48428038	Disease	p.Arg213His	VAR_018796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018796	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	94	pfam11969	305410829,NP_001182177
54840	48428038	Disease	p.Arg213His	VAR_018796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018796	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	38	cd01278	305410829,NP_001182177
54840	48428038	Disease	p.Arg213His	VAR_018796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018796	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	26	pfam01230	305410829,NP_001182177
54840	48428038	Disease	p.Arg213His	VAR_018796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018796	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	34	cd01276	305410829,NP_001182177
54840	48428038	Disease	p.Arg213His	VAR_018796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018796	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	39	cd00468	305410829,NP_001182177
54840	48428038	Disease	p.His215Arg	VAR_018797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018797	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	96	pfam11969	305410829,NP_001182177
54840	48428038	Disease	p.His215Arg	VAR_018797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018797	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	40	cd01278	305410829,NP_001182177
54840	48428038	Disease	p.His215Arg	VAR_018797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018797	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	28	pfam01230	305410829,NP_001182177
54840	48428038	Disease	p.His215Arg	VAR_018797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018797	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	36	cd01276	305410829,NP_001182177
54840	48428038	Disease	p.His215Arg	VAR_018797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018797	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	41	cd00468	305410829,NP_001182177
54840	48428038	Disease	p.Pro220Leu	VAR_018798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018798	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	102	pfam11969	305410829,NP_001182177
54840	48428038	Disease	p.Pro220Leu	VAR_018798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018798	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	45	cd01278	305410829,NP_001182177
54840	48428038	Disease	p.Pro220Leu	VAR_018798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018798	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	33	pfam01230	305410829,NP_001182177
54840	48428038	Disease	p.Pro220Leu	VAR_018798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018798	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	41	cd01276	305410829,NP_001182177
54840	48428038	Disease	p.Pro220Leu	VAR_018798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018798	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	46	cd00468	305410829,NP_001182177
54840	48428038	Disease	p.Leu237Pro	VAR_025365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025365	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	152	pfam11969	305410829,NP_001182177
54840	48428038	Disease	p.Leu237Pro	VAR_025365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025365	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	64	cd01278	305410829,NP_001182177
54840	48428038	Disease	p.Leu237Pro	VAR_025365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025365	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	57	pfam01230	305410829,NP_001182177
54840	48428038	Disease	p.Leu237Pro	VAR_025365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025365	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	62	cd01276	305410829,NP_001182177
54840	48428038	Disease	p.Leu237Pro	VAR_025365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025365	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	71	cd00468	305410829,NP_001182177
54840	48428038	Disease	p.Val277Gly	VAR_018799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018799	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	215	pfam11969	305410829,NP_001182177
54840	48428038	Disease	p.Val277Gly	VAR_018799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018799	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	113	cd01278	305410829,NP_001182177
54840	48428038	Disease	p.Val277Gly	VAR_018799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018799	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	121	pfam01230	305410829,NP_001182177
54840	48428038	Disease	p.Val277Gly	VAR_018799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018799	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	110	cd01276	305410829,NP_001182177
54840	48428038	Disease	p.Val277Gly	VAR_018799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018799	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	112	cd00468	305410829,NP_001182177
54840	48428038	Disease	p.Asp281Gly	VAR_018800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018800	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	219	pfam11969	305410829,NP_001182177
54840	48428038	Disease	p.Asp281Gly	VAR_018800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018800	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	125	pfam01230	305410829,NP_001182177
54840	48428038	Disease	p.Trp293Arg	VAR_018801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018801	- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]	SWISS	No Domain	N/A	305410829,NP_001182177
359	728874	Disease	p.Leu22Val	VAR_015239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015239	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	21	COG0580	4502179,NP_000477
359	728874	Disease	p.Leu22Val	VAR_015239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015239	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	12	cd00333	4502179,NP_000477
359	728874	Disease	p.Leu22Val	VAR_015239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015239	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	22	pfam00230	4502179,NP_000477
359	728874	Disease	p.Leu28Pro	VAR_015240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015240	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	27	COG0580	4502179,NP_000477
359	728874	Disease	p.Leu28Pro	VAR_015240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015240	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	18	cd00333	4502179,NP_000477
359	728874	Disease	p.Leu28Pro	VAR_015240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015240	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	28	pfam00230	4502179,NP_000477
359	728874	Disease	p.Ala47Val	VAR_015241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015241	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	85	COG0580	4502179,NP_000477
359	728874	Disease	p.Ala47Val	VAR_015241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015241	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	76	cd00333	4502179,NP_000477
359	728874	Disease	p.Ala47Val	VAR_015241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015241	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	86	pfam00230	4502179,NP_000477
359	728874	Disease	p.Gln57Pro	VAR_015256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015256	rs28931580 Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	95	COG0580	4502179,NP_000477
359	728874	Disease	p.Gln57Pro	VAR_015256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015256	rs28931580 Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	86	cd00333	4502179,NP_000477
359	728874	Disease	p.Gln57Pro	VAR_015256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015256	rs28931580 Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	96	pfam00230	4502179,NP_000477
359	728874	Disease	p.Gly64Arg	VAR_004401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004401	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	102	COG0580	4502179,NP_000477
359	728874	Disease	p.Gly64Arg	VAR_004401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004401	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	99	cd00333	4502179,NP_000477
359	728874	Disease	p.Gly64Arg	VAR_004401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004401	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	105	pfam00230	4502179,NP_000477
359	728874	Disease	p.Asn68Ser	VAR_015242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015242	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	108	COG0580	4502179,NP_000477
359	728874	Disease	p.Asn68Ser	VAR_015242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015242	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	103	cd00333	4502179,NP_000477
359	728874	Disease	p.Asn68Ser	VAR_015242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015242	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	109	pfam00230	4502179,NP_000477
359	728874	Disease	p.Ala70Asp	VAR_062585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062585	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	110	COG0580	4502179,NP_000477
359	728874	Disease	p.Ala70Asp	VAR_062585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062585	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	105	cd00333	4502179,NP_000477
359	728874	Disease	p.Ala70Asp	VAR_062585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062585	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	111	pfam00230	4502179,NP_000477
359	728874	Disease	p.Val71Met	VAR_015243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015243	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	111	COG0580	4502179,NP_000477
359	728874	Disease	p.Val71Met	VAR_015243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015243	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	106	cd00333	4502179,NP_000477
359	728874	Disease	p.Val71Met	VAR_015243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015243	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	112	pfam00230	4502179,NP_000477
359	728874	Disease	p.Gly100Arg	VAR_062586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062586	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	155	COG0580	4502179,NP_000477
359	728874	Disease	p.Gly100Arg	VAR_062586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062586	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	135	cd00333	4502179,NP_000477
359	728874	Disease	p.Gly100Arg	VAR_062586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062586	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	141	pfam00230	4502179,NP_000477
359	728874	Disease	p.Gly100Val	VAR_015257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015257	rs28929477 Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	155	COG0580	4502179,NP_000477
359	728874	Disease	p.Gly100Val	VAR_015257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015257	rs28929477 Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	135	cd00333	4502179,NP_000477
359	728874	Disease	p.Gly100Val	VAR_015257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015257	rs28929477 Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	141	pfam00230	4502179,NP_000477
359	728874	Disease	p.Thr125Met	VAR_015244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015244	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	207	COG0580	4502179,NP_000477
359	728874	Disease	p.Thr125Met	VAR_015244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015244	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	200	cd00333	4502179,NP_000477
359	728874	Disease	p.Thr125Met	VAR_015244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015244	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	184	pfam00230	4502179,NP_000477
359	728874	Disease	p.Thr126Met	VAR_015245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015245	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	221	COG0580	4502179,NP_000477
359	728874	Disease	p.Thr126Met	VAR_015245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015245	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	201	cd00333	4502179,NP_000477
359	728874	Disease	p.Thr126Met	VAR_015245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015245	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	185	pfam00230	4502179,NP_000477
359	728874	Disease	p.Ala147Thr	VAR_015246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015246	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	242	COG0580	4502179,NP_000477
359	728874	Disease	p.Ala147Thr	VAR_015246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015246	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	222	cd00333	4502179,NP_000477
359	728874	Disease	p.Ala147Thr	VAR_015246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015246	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	206	pfam00230	4502179,NP_000477
359	728874	Disease	p.Val168Met	VAR_015247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015247	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	304	COG0580	4502179,NP_000477
359	728874	Disease	p.Val168Met	VAR_015247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015247	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	278	cd00333	4502179,NP_000477
359	728874	Disease	p.Val168Met	VAR_015247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015247	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	231	pfam00230	4502179,NP_000477
359	728874	Disease	p.Gly175Arg	VAR_015248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015248	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	312	COG0580	4502179,NP_000477
359	728874	Disease	p.Gly175Arg	VAR_015248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015248	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	285	cd00333	4502179,NP_000477
359	728874	Disease	p.Gly175Arg	VAR_015248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015248	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	238	pfam00230	4502179,NP_000477
359	728874	Disease	p.Gly180Ser	VAR_062587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062587	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	317	COG0580	4502179,NP_000477
359	728874	Disease	p.Gly180Ser	VAR_062587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062587	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	291	cd00333	4502179,NP_000477
359	728874	Disease	p.Gly180Ser	VAR_062587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062587	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	243	pfam00230	4502179,NP_000477
359	728874	Disease	p.Cys181Trp	VAR_015249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015249	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	318	COG0580	4502179,NP_000477
359	728874	Disease	p.Cys181Trp	VAR_015249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015249	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	292	cd00333	4502179,NP_000477
359	728874	Disease	p.Cys181Trp	VAR_015249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015249	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	244	pfam00230	4502179,NP_000477
359	728874	Disease	p.Pro185Ala	VAR_015250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015250	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	322	COG0580	4502179,NP_000477
359	728874	Disease	p.Pro185Ala	VAR_015250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015250	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	296	cd00333	4502179,NP_000477
359	728874	Disease	p.Pro185Ala	VAR_015250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015250	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	248	pfam00230	4502179,NP_000477
359	728874	Disease	p.Arg187Cys	VAR_004402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004402	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	324	COG0580	4502179,NP_000477
359	728874	Disease	p.Arg187Cys	VAR_004402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004402	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	298	cd00333	4502179,NP_000477
359	728874	Disease	p.Arg187Cys	VAR_004402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004402	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	250	pfam00230	4502179,NP_000477
359	728874	Disease	p.Arg187His	VAR_062588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062588	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	324	COG0580	4502179,NP_000477
359	728874	Disease	p.Arg187His	VAR_062588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062588	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	298	cd00333	4502179,NP_000477
359	728874	Disease	p.Arg187His	VAR_062588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062588	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	250	pfam00230	4502179,NP_000477
359	728874	Disease	p.Ala190Thr	VAR_015251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015251	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	327	COG0580	4502179,NP_000477
359	728874	Disease	p.Ala190Thr	VAR_015251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015251	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	301	cd00333	4502179,NP_000477
359	728874	Disease	p.Ala190Thr	VAR_015251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015251	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	253	pfam00230	4502179,NP_000477
359	728874	Disease	p.Trp202Cys	VAR_015253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015253	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	353	COG0580	4502179,NP_000477
359	728874	Disease	p.Trp202Cys	VAR_015253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015253	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	327	cd00333	4502179,NP_000477
359	728874	Disease	p.Trp202Cys	VAR_015253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015253	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	278	pfam00230	4502179,NP_000477
359	728874	Disease	p.Ser216Pro	VAR_004403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004403	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	367	COG0580	4502179,NP_000477
359	728874	Disease	p.Ser216Pro	VAR_004403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004403	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	341	cd00333	4502179,NP_000477
359	728874	Disease	p.Ser216Pro	VAR_004403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004403	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	292	pfam00230	4502179,NP_000477
359	728874	Disease	p.Arg254Leu	VAR_062589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062589	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	No Domain	N/A	4502179,NP_000477
359	728874	Disease	p.Arg254Gln	VAR_062590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062590	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	No Domain	N/A	4502179,NP_000477
359	728874	Disease	p.Glu258Lys	VAR_015254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015254	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	No Domain	N/A	4502179,NP_000477
359	728874	Disease	p.Pro262Leu	VAR_015255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015255	- Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]	SWISS	No Domain	N/A	4502179,NP_000477
367	113830	Disease	p.Glu2Lys	VAR_004679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004679	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	No Domain	N/A	NULL
367	113830	Disease	p.Gln194Arg	VAR_009224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009224	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	190	pfam02166	NULL
367	113830	Disease	p.Gly214Arg	VAR_009715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009715	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	227	pfam02166	NULL
367	113830	Disease	p.Leu255Pro	VAR_009225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009225	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	268	pfam02166	NULL
367	113830	Disease	p.Pro390Arg	VAR_009226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009226	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	403	pfam02166	NULL
367	113830	Disease	p.Pro390Ser	VAR_009227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009227	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	403	pfam02166	NULL
367	113830	Disease	p.Gln443Arg	VAR_009228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009228	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	456	pfam02166	NULL
367	113830	Disease	p.Gly491Ser	VAR_009719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009719	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	No Domain	N/A	NULL
367	113830	Disease	p.Leu547Phe	VAR_009721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009721	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	5	cd07163	NULL
367	113830	Disease	p.Leu547Phe	VAR_009721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009721	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	9	cd07160	NULL
367	113830	Disease	p.Pro548Ser	VAR_009722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009722	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	7	cd07163	NULL
367	113830	Disease	p.Pro548Ser	VAR_009722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009722	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	10	cd07160	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	9	cd06955	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	6	cd07173	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	6	cd07171	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	6	cd06967	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	10	cd07163	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	7	cd07170	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	2	cd06961	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	2	cd07162	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	2	smart00399	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	8	cd06968	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	2	cd06959	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	2	cd06965	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	5	cd07172	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	4	cd07161	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	7	cd06964	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	4	cd06962	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	6	cd07166	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	9	cd07168	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	9	cd06970	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	9	cd07169	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07160	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	3	cd07157	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	3	cd06966	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	3	cd06956	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	3	cd06969	NULL
367	113830	Disease	p.Cys559Tyr	VAR_009723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	3	pfam00105	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	10	cd06957	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	10	cd07164	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	10	cd06963	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	10	cd06958	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	10	cd07158	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	10	cd07154	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	10	cd06916	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	10	cd07179	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	10	cd07156	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	10	cd07167	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	10	cd07155	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	10	cd07165	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	10	cd06960	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	18	cd06955	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	15	cd07173	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	15	cd07171	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	15	cd06967	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	19	cd07163	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	16	cd07170	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	11	cd06961	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	11	cd07162	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	14	smart00399	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	17	cd06968	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	11	cd06959	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	11	cd06965	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	14	cd07172	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	13	cd07161	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	16	cd06964	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	13	cd06962	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	15	cd07166	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	18	cd07168	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	18	cd06970	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	18	cd07169	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	30	cd07160	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	12	cd07157	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	12	cd06966	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	12	cd06956	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	12	cd06969	NULL
367	113830	Disease	p.Gly568Trp	VAR_009726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009726	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	12	pfam00105	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	cd06957	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	cd07164	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	cd06963	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	cd06958	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	cd07158	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	cd07154	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	cd06916	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	cd07179	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	cd07156	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	cd07167	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	cd07155	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	cd07165	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	cd06960	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd06955	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07173	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07171	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd06967	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	22	cd07163	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	19	cd07170	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	14	cd06961	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	14	cd07162	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	19	smart00399	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	20	cd06968	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	14	cd06959	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	14	cd06965	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	17	cd07172	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	16	cd07161	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	19	cd06964	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	16	cd06962	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07166	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07168	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd06970	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07169	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	33	cd07160	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	15	cd07157	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	15	cd06966	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	15	cd06956	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	15	cd06969	NULL
367	113830	Disease	p.Tyr571Cys	VAR_009727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	15	pfam00105	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	15	cd06957	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	15	cd07164	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	15	cd06963	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	15	cd06958	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	15	cd07158	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	15	cd07154	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	15	cd06916	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	15	cd07179	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	15	cd07156	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	15	cd07167	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	15	cd07155	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	15	cd07165	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	15	cd06960	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd06955	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	20	cd07173	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	20	cd07171	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	20	cd06967	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd07163	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07170	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	16	cd06961	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	16	cd07162	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	smart00399	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	22	cd06968	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	16	cd06959	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	16	cd06965	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	19	cd07172	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07161	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd06964	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd06962	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	20	cd07166	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd07168	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd06970	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd07169	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	35	cd07160	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	17	cd07157	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	17	cd06966	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	17	cd06956	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	17	cd06969	NULL
367	113830	Disease	p.Ala573Asp	VAR_009728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	17	pfam00105	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd06957	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07164	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd06963	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd06958	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07158	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07154	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd06916	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07179	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07156	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07167	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07155	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07165	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd06960	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd06955	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd07173	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd07171	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd06967	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd07163	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd07170	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	19	cd06961	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	19	cd07162	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	smart00399	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	25	cd06968	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	19	cd06959	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	19	cd06965	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	22	cd07172	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07161	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd06964	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd06962	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd07166	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd07168	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd06970	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd07169	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	38	cd07160	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	20	cd07157	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	20	cd06966	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	20	cd06956	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	20	cd06969	NULL
367	113830	Disease	p.Cys576Phe	VAR_009731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009731	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	20	pfam00105	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd06957	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07164	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd06963	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd06958	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07158	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07154	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd06916	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07179	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07156	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07167	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07155	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07165	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd06960	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd06955	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd07173	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd07171	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd06967	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd07163	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd07170	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	19	cd06961	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	19	cd07162	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	smart00399	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	25	cd06968	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	19	cd06959	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	19	cd06965	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	22	cd07172	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07161	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd06964	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd06962	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd07166	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd07168	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd06970	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd07169	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	38	cd07160	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	20	cd07157	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	20	cd06966	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	20	cd06956	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	20	cd06969	NULL
367	113830	Disease	p.Cys576Arg	VAR_009732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009732	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	20	pfam00105	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd06957	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07164	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd06963	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd06958	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07158	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07154	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd06916	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07179	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07156	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07167	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07155	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07165	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd06960	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	cd06955	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd07173	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd07171	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd06967	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	cd07163	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd07170	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	22	cd06961	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	22	cd07162	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	smart00399	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	28	cd06968	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	22	cd06959	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	22	cd06965	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	25	cd07172	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd07161	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd06964	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd06962	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd07166	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	cd07168	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	cd06970	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	cd07169	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	41	cd07160	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd07157	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd06966	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd06956	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd06969	NULL
367	113830	Disease	p.Cys579Phe	VAR_009733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	pfam00105	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd06957	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07164	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd06963	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd06958	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07158	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07154	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd06916	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07179	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07156	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07167	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07155	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd07165	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd06960	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	cd06955	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd07173	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd07171	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd06967	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	cd07163	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd07170	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	22	cd06961	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	22	cd07162	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	smart00399	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	28	cd06968	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	22	cd06959	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	22	cd06965	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	25	cd07172	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd07161	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd06964	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd06962	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd07166	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	cd07168	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	cd06970	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	cd07169	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	41	cd07160	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd07157	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd06966	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd06956	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd06969	NULL
367	113830	Disease	p.Cys579Tyr	VAR_009734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	pfam00105	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd06957	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd07164	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd06963	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd06958	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd07158	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd07154	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd06916	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd07179	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd07156	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd07167	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd07155	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd07165	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd06960	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	31	cd06955	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	28	cd07173	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	28	cd07171	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	28	cd06967	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	32	cd07163	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	cd07170	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd06961	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd07162	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	35	smart00399	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	cd06968	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd06959	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd06965	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd07172	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd07161	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	cd06964	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd06962	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	28	cd07166	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	31	cd07168	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	31	cd06970	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	31	cd07169	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	43	cd07160	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	25	cd07157	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	25	cd06966	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	25	cd06956	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	25	cd06969	NULL
367	113830	Disease	p.Val581Phe	VAR_009736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009736	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	25	pfam00105	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd06957	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd07164	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd06963	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd06958	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd07158	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd07154	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd06916	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd07179	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd07156	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd07167	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd07155	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd07165	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd06960	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	32	cd06955	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	29	cd07173	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	29	cd07171	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	29	cd06967	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	33	cd07163	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	30	cd07170	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	25	cd06961	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	25	cd07162	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	36	smart00399	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	31	cd06968	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	25	cd06959	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	25	cd06965	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	28	cd07172	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	27	cd07161	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	30	cd06964	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	27	cd06962	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	29	cd07166	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	32	cd07168	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	32	cd06970	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	32	cd07169	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	44	cd07160	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	26	cd07157	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	26	cd06966	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	26	cd06956	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	26	cd06969	NULL
367	113830	Disease	p.Phe582Ser	VAR_009737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009737	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	26	pfam00105	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd06957	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd07164	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd06963	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd06958	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd07158	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd07154	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd06916	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd07179	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd07156	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd07167	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd07155	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd07165	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	cd06960	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	32	cd06955	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	29	cd07173	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	29	cd07171	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	29	cd06967	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	33	cd07163	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	30	cd07170	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	25	cd06961	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	25	cd07162	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	36	smart00399	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	31	cd06968	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	25	cd06959	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	25	cd06965	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	28	cd07172	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	27	cd07161	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	30	cd06964	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	27	cd06962	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	29	cd07166	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	32	cd07168	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	32	cd06970	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	32	cd07169	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	44	cd07160	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	26	cd07157	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	26	cd06966	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	26	cd06956	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	26	cd06969	NULL
367	113830	Disease	p.Phe582Tyr	VAR_009738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009738	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	26	pfam00105	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd06957	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd07164	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd06963	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd06958	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd07158	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd07154	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd06916	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd07179	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd07156	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd07167	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd07155	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd07165	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd06960	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	35	cd06955	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	32	cd07173	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	32	cd07171	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	32	cd06967	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	36	cd07163	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	33	cd07170	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	28	cd06961	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	28	cd07162	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	52	smart00399	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	34	cd06968	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	28	cd06959	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	28	cd06965	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	31	cd07172	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	cd07161	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	33	cd06964	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	cd06962	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	32	cd07166	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	35	cd07168	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	35	cd06970	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	35	cd07169	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	47	cd07160	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	cd07157	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	cd06966	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	cd06956	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	cd06969	NULL
367	113830	Disease	p.Arg585Lys	VAR_009740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009740	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	pfam00105	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	38	cd06957	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	38	cd07164	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	38	cd06963	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	38	cd06958	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	39	cd07158	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	38	cd07154	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	49	cd06916	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	45	cd07179	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	40	cd07156	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	38	cd07167	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	38	cd07155	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	38	cd07165	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	39	cd06960	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	46	cd06955	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	43	cd07173	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	44	cd07171	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	43	cd06967	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	47	cd07163	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	44	cd07170	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	41	cd06961	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	39	cd07162	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	75	smart00399	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	45	cd06968	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	39	cd06959	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	40	cd06965	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	51	cd07172	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	41	cd07161	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	44	cd06964	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	41	cd06962	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	44	cd07166	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	46	cd07168	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	47	cd06970	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	46	cd07169	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd07160	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	50	cd07157	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	40	cd06966	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	40	cd06956	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	40	cd06969	NULL
367	113830	Disease	p.Ala596Thr	VAR_009743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009743	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	42	pfam00105	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	40	cd06957	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	39	cd07164	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	39	cd06963	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	39	cd06958	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	40	cd07158	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	39	cd07154	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	50	cd06916	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	46	cd07179	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	41	cd07156	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	39	cd07167	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	39	cd07155	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	39	cd07165	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	40	cd06960	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	47	cd06955	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	44	cd07173	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	45	cd07171	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	44	cd06967	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	48	cd07163	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	45	cd07170	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	42	cd06961	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	40	cd07162	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	76	smart00399	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	46	cd06968	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	40	cd06959	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	41	cd06965	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd07172	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	42	cd07161	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	45	cd06964	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	42	cd06962	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	45	cd07166	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	48	cd07168	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	48	cd06970	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	47	cd07169	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	61	cd07160	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	51	cd07157	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	41	cd06966	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	41	cd06956	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	41	cd06969	NULL
367	113830	Disease	p.Ser597Gly	VAR_009744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009744	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	43	pfam00105	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	44	cd06957	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	43	cd07164	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	43	cd06963	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	43	cd06958	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	44	cd07158	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	45	cd07154	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd06916	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	51	cd07179	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	45	cd07156	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	46	cd07167	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	43	cd07155	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	43	cd07165	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	46	cd06960	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	51	cd06955	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	48	cd07173	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	49	cd07171	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	48	cd06967	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	57	cd07163	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	49	cd07170	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	50	cd06961	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	45	cd07162	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	89	smart00399	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	50	cd06968	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	44	cd06959	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	48	cd06965	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	56	cd07172	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	46	cd07161	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	49	cd06964	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	46	cd06962	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	49	cd07166	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	52	cd07168	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	52	cd06970	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	51	cd07169	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	cd07160	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	55	cd07157	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	45	cd06966	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	45	cd06956	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	46	cd06969	NULL
367	113830	Disease	p.Cys601Phe	VAR_009746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009746	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	49	pfam00105	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	47	cd06957	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	46	cd07164	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	46	cd06963	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	46	cd06958	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	47	cd07158	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	48	cd07154	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	64	cd06916	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	54	cd07179	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	48	cd07156	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	49	cd07167	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	46	cd07155	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	46	cd07165	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	49	cd06960	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	54	cd06955	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	51	cd07173	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd07171	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	51	cd06967	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	60	cd07163	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd07170	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	53	cd06961	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	48	cd07162	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	92	smart00399	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	53	cd06968	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	47	cd06959	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	51	cd06965	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	59	cd07172	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	49	cd07161	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd06964	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	49	cd06962	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd07166	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	55	cd07168	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	55	cd06970	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	54	cd07169	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	68	cd07160	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	cd07157	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	48	cd06966	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	48	cd06956	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	49	cd06969	NULL
367	113830	Disease	p.Asp604Tyr	VAR_009747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009747	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	pfam00105	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	50	cd06957	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	49	cd07164	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	49	cd06963	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	49	cd06958	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	50	cd07158	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	51	cd07154	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	67	cd06916	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	57	cd07179	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	51	cd07156	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd07167	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	49	cd07155	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	49	cd07165	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd06960	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	57	cd06955	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	54	cd07173	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	55	cd07171	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	54	cd06967	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	63	cd07163	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	55	cd07170	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	56	cd06961	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	51	cd07162	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	98	smart00399	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	56	cd06968	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	50	cd06959	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	54	cd06965	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	62	cd07172	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd07161	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	55	cd06964	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd06962	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	55	cd07166	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	cd07168	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	cd06970	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	57	cd07169	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	71	cd07160	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	61	cd07157	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	51	cd06966	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	51	cd06956	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd06969	NULL
367	113830	Disease	p.Arg607Gln	VAR_004684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004684	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	55	pfam00105	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	51	cd06957	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	50	cd07164	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	50	cd06963	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	50	cd06958	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	51	cd07158	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd07154	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	68	cd06916	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	cd07179	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd07156	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	53	cd07167	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	50	cd07155	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	50	cd07165	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	53	cd06960	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	cd06955	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	55	cd07173	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	56	cd07171	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	55	cd06967	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	64	cd07163	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	56	cd07170	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	57	cd06961	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd07162	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	118	smart00399	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	57	cd06968	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	51	cd06959	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	55	cd06965	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	63	cd07172	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	53	cd07161	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	56	cd06964	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	53	cd06962	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	56	cd07166	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	59	cd07168	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	59	cd06970	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	cd07169	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	72	cd07160	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	62	cd07157	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd06966	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd06956	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	53	cd06969	NULL
367	113830	Disease	p.Arg608Lys	VAR_004685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004685	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	56	pfam00105	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	53	cd06957	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd07164	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd06963	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd06958	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	53	cd07158	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	54	cd07154	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	70	cd06916	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	60	cd07179	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	54	cd07156	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	55	cd07167	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd07155	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd07165	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	55	cd06960	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	60	cd06955	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	57	cd07173	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	cd07171	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	57	cd06967	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	66	cd07163	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	cd07170	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	59	cd06961	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	54	cd07162	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	120	smart00399	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	59	cd06968	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	53	cd06959	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	57	cd06965	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	65	cd07172	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	55	cd07161	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	cd06964	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	55	cd06962	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	cd07166	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	61	cd07168	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	61	cd06970	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	60	cd07169	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	74	cd07160	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	64	cd07157	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	54	cd06966	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	54	cd06956	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	55	cd06969	NULL
367	113830	Disease	p.Asn610Thr	VAR_009748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009748	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	pfam00105	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	54	cd06957	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	53	cd07164	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	53	cd06963	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	53	cd06958	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	54	cd07158	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	55	cd07154	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	71	cd06916	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd07179	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	55	cd07156	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	56	cd07167	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	53	cd07155	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	53	cd07165	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	56	cd06960	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd06955	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	58	cd07173	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd07171	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	58	cd06967	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	67	cd07163	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd07170	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd06961	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	55	cd07162	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	121	smart00399	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd06968	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	54	cd06959	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	58	cd06965	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	66	cd07172	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	56	cd07161	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd06964	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	56	cd06962	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd07166	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd07168	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd06970	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd07169	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	75	cd07160	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	cd07157	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	55	cd06966	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	55	cd06956	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	56	cd06969	NULL
367	113830	Disease	p.Cys611Tyr	VAR_009749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009749	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	pfam00105	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	58	cd06957	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	57	cd07164	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	57	cd06963	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	57	cd06958	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	58	cd07158	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd07154	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	75	cd06916	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	cd07179	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd07156	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd07167	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	57	cd07155	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	57	cd07165	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd06960	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	cd06955	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd07173	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	63	cd07171	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd06967	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	71	cd07163	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	63	cd07170	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	64	cd06961	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd07162	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	125	smart00399	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	64	cd06968	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	58	cd06959	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd06965	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	70	cd07172	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd07161	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	63	cd06964	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd06962	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	63	cd07166	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	66	cd07168	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	66	cd06970	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	cd07169	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	79	cd07160	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	69	cd07157	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd06966	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd06956	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd06969	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	63	pfam00105	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	cd06957	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	57	cd07164	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	57	cd06963	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	57	cd06958	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	cd07158	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	59	cd07154	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	75	cd06916	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	65	cd07179	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	59	cd07156	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	60	cd07167	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	57	cd07155	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	57	cd07165	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	60	cd06960	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	65	cd06955	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	62	cd07173	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	63	cd07171	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	62	cd06967	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	71	cd07163	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	63	cd07170	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	64	cd06961	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	59	cd07162	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	125	smart00399	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	64	cd06968	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	cd06959	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	62	cd06965	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	70	cd07172	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	60	cd07161	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	63	cd06964	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	60	cd06962	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	63	cd07166	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	66	cd07168	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	66	cd06970	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	65	cd07169	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	79	cd07160	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	69	cd07157	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	59	cd06966	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	59	cd06956	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	60	cd06969	NULL
367	113830	Disease	p.Arg615His	VAR_009751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009751	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	63	pfam00105	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	58	cd06957	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	57	cd07164	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	57	cd06963	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	57	cd06958	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	58	cd07158	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd07154	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	75	cd06916	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	cd07179	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd07156	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd07167	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	57	cd07155	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	57	cd07165	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd06960	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	cd06955	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd07173	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	63	cd07171	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd06967	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	71	cd07163	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	63	cd07170	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	64	cd06961	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd07162	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	125	smart00399	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	64	cd06968	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	58	cd06959	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd06965	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	70	cd07172	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd07161	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	63	cd06964	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd06962	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	63	cd07166	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	66	cd07168	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	66	cd06970	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	cd07169	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	79	cd07160	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	69	cd07157	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd06966	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd06956	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd06969	NULL
367	113830	Disease	p.Arg615Pro	VAR_009752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009752	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	63	pfam00105	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd06957	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	58	cd07164	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	58	cd06963	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	58	cd06958	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd07158	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd07154	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	76	cd06916	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	66	cd07179	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd07156	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd07167	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	58	cd07155	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	58	cd07165	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd06960	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	66	cd06955	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	63	cd07173	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	64	cd07171	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	63	cd06967	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	72	cd07163	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	64	cd07170	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	cd06961	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd07162	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	126	smart00399	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	cd06968	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd06959	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	63	cd06965	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	71	cd07172	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd07161	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	64	cd06964	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd06962	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	64	cd07166	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	67	cd07168	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	67	cd06970	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	66	cd07169	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	80	cd07160	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	70	cd07157	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd06966	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd06956	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd06969	NULL
367	113830	Disease	p.Leu616Pro	VAR_009753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009753	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	64	pfam00105	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	59	cd06957	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	cd07164	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	cd06963	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	cd06958	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	59	cd07158	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	60	cd07154	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	76	cd06916	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	66	cd07179	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	60	cd07156	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	61	cd07167	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	cd07155	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	cd07165	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	61	cd06960	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	66	cd06955	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	63	cd07173	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	64	cd07171	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	63	cd06967	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	72	cd07163	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	64	cd07170	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	65	cd06961	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	60	cd07162	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	126	smart00399	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	65	cd06968	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	59	cd06959	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	63	cd06965	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	71	cd07172	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	61	cd07161	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	64	cd06964	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	61	cd06962	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	64	cd07166	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	67	cd07168	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	67	cd06970	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	66	cd07169	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	80	cd07160	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	70	cd07157	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	60	cd06966	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	60	cd06956	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	61	cd06969	NULL
367	113830	Disease	p.Leu616Arg	VAR_009754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009754	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	64	pfam00105	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd06957	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd07164	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd06963	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd06958	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd07158	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd07154	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	77	cd06916	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	67	cd07179	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd07156	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd07167	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd07155	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd07165	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd06960	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	67	cd06955	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	64	cd07173	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	cd07171	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	64	cd06967	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	73	cd07163	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	cd07170	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	66	cd06961	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd07162	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	127	smart00399	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	66	cd06968	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd06959	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	64	cd06965	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	72	cd07172	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd07161	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	cd06964	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd06962	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	cd07166	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	68	cd07168	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	68	cd06970	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	67	cd07169	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	81	cd07160	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	71	cd07157	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd06966	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd06956	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd06969	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	pfam00105	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	60	cd06957	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	59	cd07164	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	59	cd06963	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	59	cd06958	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	60	cd07158	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	61	cd07154	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	77	cd06916	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	67	cd07179	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	61	cd07156	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	62	cd07167	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	59	cd07155	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	59	cd07165	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	62	cd06960	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	67	cd06955	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	64	cd07173	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	65	cd07171	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	64	cd06967	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	73	cd07163	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	65	cd07170	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	66	cd06961	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	61	cd07162	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	127	smart00399	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	66	cd06968	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	60	cd06959	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	64	cd06965	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	72	cd07172	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	62	cd07161	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	65	cd06964	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	62	cd06962	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	65	cd07166	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	68	cd07168	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	68	cd06970	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	67	cd07169	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	81	cd07160	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	71	cd07157	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	61	cd06966	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	61	cd06956	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	62	cd06969	NULL
367	113830	Disease	p.Arg617Pro	VAR_009755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009755	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	65	pfam00105	NULL
367	113830	Disease	p.Ile664Asn	VAR_004687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004687	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	31	cd06945	NULL
367	113830	Disease	p.Ile664Asn	VAR_004687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004687	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	31	cd06945	NULL
367	113830	Disease	p.Pro671His	VAR_009762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009762	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	39	cd06945	NULL
367	113830	Disease	p.Pro671His	VAR_009762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009762	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	4	cd06949	NULL
367	113830	Disease	p.Leu677Pro	VAR_004688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004688	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	5	cd06946	NULL
367	113830	Disease	p.Leu677Pro	VAR_004688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004688	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	5	cd07068	NULL
367	113830	Disease	p.Leu677Pro	VAR_004688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004688	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	5	cd06953	NULL
367	113830	Disease	p.Leu677Pro	VAR_004688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004688	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	46	cd06945	NULL
367	113830	Disease	p.Leu677Pro	VAR_004688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004688	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	6	cd07075	NULL
367	113830	Disease	p.Leu677Pro	VAR_004688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004688	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	6	cd07074	NULL
367	113830	Disease	p.Leu677Pro	VAR_004688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004688	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	6	cd07076	NULL
367	113830	Disease	p.Leu677Pro	VAR_004688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004688	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	11	cd06943	NULL
367	113830	Disease	p.Leu677Pro	VAR_004688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004688	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	6	cd07073	NULL
367	113830	Disease	p.Leu677Pro	VAR_004688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004688	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	6	cd06947	NULL
367	113830	Disease	p.Leu677Pro	VAR_004688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004688	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	5	cd06931	NULL
367	113830	Disease	p.Leu677Pro	VAR_004688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004688	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	2	cd06944	NULL
367	113830	Disease	p.Leu677Pro	VAR_004688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004688	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	10	cd06949	NULL
367	113830	Disease	p.Leu677Pro	VAR_004688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004688	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	8	cd07070	NULL
367	113830	Disease	p.Glu681Lys	VAR_009764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009764	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	9	cd06946	NULL
367	113830	Disease	p.Glu681Lys	VAR_009764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009764	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	9	cd07068	NULL
367	113830	Disease	p.Glu681Lys	VAR_009764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009764	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	9	cd06953	NULL
367	113830	Disease	p.Glu681Lys	VAR_009764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009764	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	49_G	cd06945	NULL
367	113830	Disease	p.Glu681Lys	VAR_009764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009764	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	10	cd07075	NULL
367	113830	Disease	p.Glu681Lys	VAR_009764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009764	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	10	cd07074	NULL
367	113830	Disease	p.Glu681Lys	VAR_009764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009764	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	10	cd07076	NULL
367	113830	Disease	p.Glu681Lys	VAR_009764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009764	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	15	cd06943	NULL
367	113830	Disease	p.Glu681Lys	VAR_009764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009764	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	10	cd07073	NULL
367	113830	Disease	p.Glu681Lys	VAR_009764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009764	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	10	cd06947	NULL
367	113830	Disease	p.Glu681Lys	VAR_009764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009764	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	9	cd06931	NULL
367	113830	Disease	p.Glu681Lys	VAR_009764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009764	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	6	cd06944	NULL
367	113830	Disease	p.Glu681Lys	VAR_009764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009764	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	14	cd06949	NULL
367	113830	Disease	p.Glu681Lys	VAR_009764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009764	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	12	cd07070	NULL
367	113830	Disease	p.Pro682Thr	VAR_013474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013474	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	12	cd06946	NULL
367	113830	Disease	p.Pro682Thr	VAR_013474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013474	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	12	cd07068	NULL
367	113830	Disease	p.Pro682Thr	VAR_013474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013474	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	10	cd06953	NULL
367	113830	Disease	p.Pro682Thr	VAR_013474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013474	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	49_G	cd06945	NULL
367	113830	Disease	p.Pro682Thr	VAR_013474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013474	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	11	cd07075	NULL
367	113830	Disease	p.Pro682Thr	VAR_013474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013474	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	11	cd07074	NULL
367	113830	Disease	p.Pro682Thr	VAR_013474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013474	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	11	cd07076	NULL
367	113830	Disease	p.Pro682Thr	VAR_013474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013474	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	16	cd06943	NULL
367	113830	Disease	p.Pro682Thr	VAR_013474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013474	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	11	cd07073	NULL
367	113830	Disease	p.Pro682Thr	VAR_013474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013474	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	11	cd06947	NULL
367	113830	Disease	p.Pro682Thr	VAR_013474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013474	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	10	cd06931	NULL
367	113830	Disease	p.Pro682Thr	VAR_013474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013474	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	7	cd06944	NULL
367	113830	Disease	p.Pro682Thr	VAR_013474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013474	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	15	cd06949	NULL
367	113830	Disease	p.Pro682Thr	VAR_013474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013474	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	13	cd07070	NULL
367	113830	Disease	p.Val684Ile	VAR_009766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009766	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	14	cd06946	NULL
367	113830	Disease	p.Val684Ile	VAR_009766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009766	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	14	cd07068	NULL
367	113830	Disease	p.Val684Ile	VAR_009766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009766	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	12	cd06953	NULL
367	113830	Disease	p.Val684Ile	VAR_009766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009766	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	50	cd06945	NULL
367	113830	Disease	p.Val684Ile	VAR_009766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009766	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	cd07075	NULL
367	113830	Disease	p.Val684Ile	VAR_009766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009766	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	cd07074	NULL
367	113830	Disease	p.Val684Ile	VAR_009766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009766	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	cd07076	NULL
367	113830	Disease	p.Val684Ile	VAR_009766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009766	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd06943	NULL
367	113830	Disease	p.Val684Ile	VAR_009766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009766	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	cd07073	NULL
367	113830	Disease	p.Val684Ile	VAR_009766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009766	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	cd06947	NULL
367	113830	Disease	p.Val684Ile	VAR_009766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009766	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	12	cd06931	NULL
367	113830	Disease	p.Val684Ile	VAR_009766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009766	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	9	cd06944	NULL
367	113830	Disease	p.Val684Ile	VAR_009766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009766	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	17	cd06949	NULL
367	113830	Disease	p.Val684Ile	VAR_009766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009766	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd07070	NULL
367	113830	Disease	p.Cys686Arg	VAR_009767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009767	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	16	cd06946	NULL
367	113830	Disease	p.Cys686Arg	VAR_009767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009767	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	16	cd07068	NULL
367	113830	Disease	p.Cys686Arg	VAR_009767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009767	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	14	cd06953	NULL
367	113830	Disease	p.Cys686Arg	VAR_009767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009767	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd06945	NULL
367	113830	Disease	p.Cys686Arg	VAR_009767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009767	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	15	cd07075	NULL
367	113830	Disease	p.Cys686Arg	VAR_009767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009767	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	15	cd07074	NULL
367	113830	Disease	p.Cys686Arg	VAR_009767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009767	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	15	cd07076	NULL
367	113830	Disease	p.Cys686Arg	VAR_009767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009767	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	20	cd06943	NULL
367	113830	Disease	p.Cys686Arg	VAR_009767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009767	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	15	cd07073	NULL
367	113830	Disease	p.Cys686Arg	VAR_009767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009767	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	15	cd06947	NULL
367	113830	Disease	p.Cys686Arg	VAR_009767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009767	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	14	cd06931	NULL
367	113830	Disease	p.Cys686Arg	VAR_009767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009767	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	11	cd06944	NULL
367	113830	Disease	p.Cys686Arg	VAR_009767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009767	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	19	cd06949	NULL
367	113830	Disease	p.Cys686Arg	VAR_009767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009767	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	25	cd07070	NULL
367	113830	Disease	p.Ala687Val	VAR_009768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009768	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	17	cd06946	NULL
367	113830	Disease	p.Ala687Val	VAR_009768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009768	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	17	cd07068	NULL
367	113830	Disease	p.Ala687Val	VAR_009768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009768	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	15	cd06953	NULL
367	113830	Disease	p.Ala687Val	VAR_009768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009768	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	65	cd06945	NULL
367	113830	Disease	p.Ala687Val	VAR_009768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009768	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	16	cd07075	NULL
367	113830	Disease	p.Ala687Val	VAR_009768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009768	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	16	cd07074	NULL
367	113830	Disease	p.Ala687Val	VAR_009768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009768	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	16	cd07076	NULL
367	113830	Disease	p.Ala687Val	VAR_009768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009768	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	29	cd06943	NULL
367	113830	Disease	p.Ala687Val	VAR_009768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009768	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	16	cd07073	NULL
367	113830	Disease	p.Ala687Val	VAR_009768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009768	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	16	cd06947	NULL
367	113830	Disease	p.Ala687Val	VAR_009768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009768	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	15	cd06931	NULL
367	113830	Disease	p.Ala687Val	VAR_009768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009768	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	12	cd06944	NULL
367	113830	Disease	p.Ala687Val	VAR_009768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009768	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	20	cd06949	NULL
367	113830	Disease	p.Ala687Val	VAR_009768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009768	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	26	cd07070	NULL
367	113830	Disease	p.Gly688Glu	VAR_009769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009769	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd06946	NULL
367	113830	Disease	p.Gly688Glu	VAR_009769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009769	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	18	cd07068	NULL
367	113830	Disease	p.Gly688Glu	VAR_009769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009769	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	16	cd06953	NULL
367	113830	Disease	p.Gly688Glu	VAR_009769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009769	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	66	cd06945	NULL
367	113830	Disease	p.Gly688Glu	VAR_009769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009769	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	17	cd07075	NULL
367	113830	Disease	p.Gly688Glu	VAR_009769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009769	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	17	cd07074	NULL
367	113830	Disease	p.Gly688Glu	VAR_009769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009769	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	17	cd07076	NULL
367	113830	Disease	p.Gly688Glu	VAR_009769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009769	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	cd06943	NULL
367	113830	Disease	p.Gly688Glu	VAR_009769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009769	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	17	cd07073	NULL
367	113830	Disease	p.Gly688Glu	VAR_009769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009769	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	17	cd06947	NULL
367	113830	Disease	p.Gly688Glu	VAR_009769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009769	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	16	cd06931	NULL
367	113830	Disease	p.Gly688Glu	VAR_009769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009769	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	cd06944	NULL
367	113830	Disease	p.Gly688Glu	VAR_009769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009769	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd06949	NULL
367	113830	Disease	p.Gly688Glu	VAR_009769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009769	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd07070	NULL
367	113830	Disease	p.Asp695His	VAR_004690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004690	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd06946	NULL
367	113830	Disease	p.Asp695His	VAR_004690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004690	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd07068	NULL
367	113830	Disease	p.Asp695His	VAR_004690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004690	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	25	cd06953	NULL
367	113830	Disease	p.Asp695His	VAR_004690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004690	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	73	cd06945	NULL
367	113830	Disease	p.Asp695His	VAR_004690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004690	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd07075	NULL
367	113830	Disease	p.Asp695His	VAR_004690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004690	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd07074	NULL
367	113830	Disease	p.Asp695His	VAR_004690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004690	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd07076	NULL
367	113830	Disease	p.Asp695His	VAR_004690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004690	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	37	cd06943	NULL
367	113830	Disease	p.Asp695His	VAR_004690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004690	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd07073	NULL
367	113830	Disease	p.Asp695His	VAR_004690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004690	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd06947	NULL
367	113830	Disease	p.Asp695His	VAR_004690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004690	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd06931	NULL
367	113830	Disease	p.Asp695His	VAR_004690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004690	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	20	cd06944	NULL
367	113830	Disease	p.Asp695His	VAR_004690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004690	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	35	cd06949	NULL
367	113830	Disease	p.Asp695His	VAR_004690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004690	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	34	cd07070	NULL
367	113830	Disease	p.Asp695Asn	VAR_004691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004691	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd06946	NULL
367	113830	Disease	p.Asp695Asn	VAR_004691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004691	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd07068	NULL
367	113830	Disease	p.Asp695Asn	VAR_004691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004691	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	25	cd06953	NULL
367	113830	Disease	p.Asp695Asn	VAR_004691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004691	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	73	cd06945	NULL
367	113830	Disease	p.Asp695Asn	VAR_004691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004691	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd07075	NULL
367	113830	Disease	p.Asp695Asn	VAR_004691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004691	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd07074	NULL
367	113830	Disease	p.Asp695Asn	VAR_004691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004691	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd07076	NULL
367	113830	Disease	p.Asp695Asn	VAR_004691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004691	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	37	cd06943	NULL
367	113830	Disease	p.Asp695Asn	VAR_004691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004691	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd07073	NULL
367	113830	Disease	p.Asp695Asn	VAR_004691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004691	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd06947	NULL
367	113830	Disease	p.Asp695Asn	VAR_004691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004691	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd06931	NULL
367	113830	Disease	p.Asp695Asn	VAR_004691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004691	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	20	cd06944	NULL
367	113830	Disease	p.Asp695Asn	VAR_004691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004691	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	35	cd06949	NULL
367	113830	Disease	p.Asp695Asn	VAR_004691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004691	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	34	cd07070	NULL
367	113830	Disease	p.Asp695Val	VAR_004692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004692	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd06946	NULL
367	113830	Disease	p.Asp695Val	VAR_004692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004692	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd07068	NULL
367	113830	Disease	p.Asp695Val	VAR_004692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004692	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	25	cd06953	NULL
367	113830	Disease	p.Asp695Val	VAR_004692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004692	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	73	cd06945	NULL
367	113830	Disease	p.Asp695Val	VAR_004692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004692	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd07075	NULL
367	113830	Disease	p.Asp695Val	VAR_004692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004692	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd07074	NULL
367	113830	Disease	p.Asp695Val	VAR_004692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004692	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd07076	NULL
367	113830	Disease	p.Asp695Val	VAR_004692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004692	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	37	cd06943	NULL
367	113830	Disease	p.Asp695Val	VAR_004692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004692	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd07073	NULL
367	113830	Disease	p.Asp695Val	VAR_004692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004692	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd06947	NULL
367	113830	Disease	p.Asp695Val	VAR_004692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004692	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd06931	NULL
367	113830	Disease	p.Asp695Val	VAR_004692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004692	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	20	cd06944	NULL
367	113830	Disease	p.Asp695Val	VAR_004692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004692	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	35	cd06949	NULL
367	113830	Disease	p.Asp695Val	VAR_004692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004692	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	34	cd07070	NULL
367	113830	Disease	p.Leu700Met	VAR_009771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009771	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	67	cd06946	NULL
367	113830	Disease	p.Leu700Met	VAR_009771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009771	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	67	cd07068	NULL
367	113830	Disease	p.Leu700Met	VAR_009771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009771	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	cd06953	NULL
367	113830	Disease	p.Leu700Met	VAR_009771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009771	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	78	cd06945	NULL
367	113830	Disease	p.Leu700Met	VAR_009771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009771	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	cd07075	NULL
367	113830	Disease	p.Leu700Met	VAR_009771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009771	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	cd07074	NULL
367	113830	Disease	p.Leu700Met	VAR_009771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009771	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	cd07076	NULL
367	113830	Disease	p.Leu700Met	VAR_009771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009771	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	42	cd06943	NULL
367	113830	Disease	p.Leu700Met	VAR_009771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009771	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	cd07073	NULL
367	113830	Disease	p.Leu700Met	VAR_009771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009771	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	cd06947	NULL
367	113830	Disease	p.Leu700Met	VAR_009771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009771	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	33	cd06931	NULL
367	113830	Disease	p.Leu700Met	VAR_009771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009771	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	25	cd06944	NULL
367	113830	Disease	p.Leu700Met	VAR_009771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009771	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	40	cd06949	NULL
367	113830	Disease	p.Leu700Met	VAR_009771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009771	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	3	cd06929	NULL
367	113830	Disease	p.Leu700Met	VAR_009771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009771	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	40	cd07070	NULL
367	113830	Disease	p.Leu701Phe	VAR_009772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009772	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	68	cd06946	NULL
367	113830	Disease	p.Leu701Phe	VAR_009772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009772	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	68	cd07068	NULL
367	113830	Disease	p.Leu701Phe	VAR_009772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009772	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	31	cd06953	NULL
367	113830	Disease	p.Leu701Phe	VAR_009772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009772	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	79	cd06945	NULL
367	113830	Disease	p.Leu701Phe	VAR_009772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009772	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	cd07075	NULL
367	113830	Disease	p.Leu701Phe	VAR_009772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009772	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	cd07074	NULL
367	113830	Disease	p.Leu701Phe	VAR_009772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009772	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	cd07076	NULL
367	113830	Disease	p.Leu701Phe	VAR_009772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009772	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	43	cd06943	NULL
367	113830	Disease	p.Leu701Phe	VAR_009772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009772	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	cd07073	NULL
367	113830	Disease	p.Leu701Phe	VAR_009772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009772	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	cd06947	NULL
367	113830	Disease	p.Leu701Phe	VAR_009772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009772	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	34	cd06931	NULL
367	113830	Disease	p.Leu701Phe	VAR_009772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009772	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd06944	NULL
367	113830	Disease	p.Leu701Phe	VAR_009772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009772	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	41	cd06949	NULL
367	113830	Disease	p.Leu701Phe	VAR_009772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009772	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	4	cd06929	NULL
367	113830	Disease	p.Leu701Phe	VAR_009772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009772	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	41	cd07070	NULL
367	113830	Disease	p.Leu701His	VAR_009773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009773	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	68	cd06946	NULL
367	113830	Disease	p.Leu701His	VAR_009773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009773	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	68	cd07068	NULL
367	113830	Disease	p.Leu701His	VAR_009773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009773	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	31	cd06953	NULL
367	113830	Disease	p.Leu701His	VAR_009773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009773	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	79	cd06945	NULL
367	113830	Disease	p.Leu701His	VAR_009773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009773	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	cd07075	NULL
367	113830	Disease	p.Leu701His	VAR_009773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009773	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	cd07074	NULL
367	113830	Disease	p.Leu701His	VAR_009773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009773	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	cd07076	NULL
367	113830	Disease	p.Leu701His	VAR_009773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009773	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	43	cd06943	NULL
367	113830	Disease	p.Leu701His	VAR_009773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009773	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	cd07073	NULL
367	113830	Disease	p.Leu701His	VAR_009773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009773	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	cd06947	NULL
367	113830	Disease	p.Leu701His	VAR_009773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009773	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	34	cd06931	NULL
367	113830	Disease	p.Leu701His	VAR_009773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009773	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd06944	NULL
367	113830	Disease	p.Leu701His	VAR_009773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009773	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	41	cd06949	NULL
367	113830	Disease	p.Leu701His	VAR_009773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009773	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	4	cd06929	NULL
367	113830	Disease	p.Leu701His	VAR_009773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009773	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	41	cd07070	NULL
367	113830	Disease	p.Ser702Ala	VAR_009774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009774	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	69	cd06946	NULL
367	113830	Disease	p.Ser702Ala	VAR_009774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009774	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	69	cd07068	NULL
367	113830	Disease	p.Ser702Ala	VAR_009774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009774	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	32	cd06953	NULL
367	113830	Disease	p.Ser702Ala	VAR_009774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009774	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	80	cd06945	NULL
367	113830	Disease	p.Ser702Ala	VAR_009774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009774	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	2	cd06930	NULL
367	113830	Disease	p.Ser702Ala	VAR_009774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009774	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	31	cd07075	NULL
367	113830	Disease	p.Ser702Ala	VAR_009774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009774	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	31	cd07074	NULL
367	113830	Disease	p.Ser702Ala	VAR_009774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009774	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	31	cd07076	NULL
367	113830	Disease	p.Ser702Ala	VAR_009774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009774	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	44	cd06943	NULL
367	113830	Disease	p.Ser702Ala	VAR_009774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009774	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	31	cd07073	NULL
367	113830	Disease	p.Ser702Ala	VAR_009774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009774	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	31	cd06947	NULL
367	113830	Disease	p.Ser702Ala	VAR_009774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009774	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	35	cd06931	NULL
367	113830	Disease	p.Ser702Ala	VAR_009774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009774	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd06944	NULL
367	113830	Disease	p.Ser702Ala	VAR_009774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009774	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	42	cd06949	NULL
367	113830	Disease	p.Ser702Ala	VAR_009774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009774	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	5	cd06929	NULL
367	113830	Disease	p.Ser702Ala	VAR_009774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009774	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	42	cd07070	NULL
367	113830	Disease	p.Ser703Cys	VAR_009775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009775	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	70	cd06946	NULL
367	113830	Disease	p.Ser703Cys	VAR_009775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009775	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	70	cd07068	NULL
367	113830	Disease	p.Ser703Cys	VAR_009775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009775	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	33	cd06953	NULL
367	113830	Disease	p.Ser703Cys	VAR_009775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009775	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	81	cd06945	NULL
367	113830	Disease	p.Ser703Cys	VAR_009775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009775	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	2	cd06157	NULL
367	113830	Disease	p.Ser703Cys	VAR_009775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009775	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	3	cd06930	NULL
367	113830	Disease	p.Ser703Cys	VAR_009775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009775	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	32	cd07075	NULL
367	113830	Disease	p.Ser703Cys	VAR_009775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009775	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	32	cd07074	NULL
367	113830	Disease	p.Ser703Cys	VAR_009775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009775	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	32	cd07076	NULL
367	113830	Disease	p.Ser703Cys	VAR_009775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009775	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	45	cd06943	NULL
367	113830	Disease	p.Ser703Cys	VAR_009775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009775	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	32	cd07073	NULL
367	113830	Disease	p.Ser703Cys	VAR_009775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009775	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	32	cd06947	NULL
367	113830	Disease	p.Ser703Cys	VAR_009775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009775	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	36	cd06931	NULL
367	113830	Disease	p.Ser703Cys	VAR_009775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009775	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	28	cd06944	NULL
367	113830	Disease	p.Ser703Cys	VAR_009775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009775	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	43	cd06949	NULL
367	113830	Disease	p.Ser703Cys	VAR_009775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009775	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	6	cd06929	NULL
367	113830	Disease	p.Ser703Cys	VAR_009775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009775	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	43	cd07070	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	70	cd06946	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	70	cd07068	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	33	cd06953	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	81	cd06945	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	2	cd06157	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	3	cd06930	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	32	cd07075	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	32	cd07074	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	32	cd07076	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	45	cd06943	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	32	cd07073	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	32	cd06947	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	36	cd06931	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	28	cd06944	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	43	cd06949	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	6	cd06929	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	43	cd07070	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	70	cd06946	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	70	cd07068	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	33	cd06953	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	81	cd06945	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	2	cd06157	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	3	cd06930	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	32	cd07075	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	32	cd07074	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	32	cd07076	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	45	cd06943	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	32	cd07073	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	32	cd06947	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	36	cd06931	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	28	cd06944	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	43	cd06949	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	6	cd06929	NULL
367	113830	Disease	p.Ser703Gly	VAR_004693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004693	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	43	cd07070	NULL
367	113830	Disease	p.Asn705Ser	VAR_009776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009776	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	72	cd06946	NULL
367	113830	Disease	p.Asn705Ser	VAR_009776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009776	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	72	cd07068	NULL
367	113830	Disease	p.Asn705Ser	VAR_009776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009776	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	35	cd06953	NULL
367	113830	Disease	p.Asn705Ser	VAR_009776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009776	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	83	cd06945	NULL
367	113830	Disease	p.Asn705Ser	VAR_009776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009776	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	4	cd06157	NULL
367	113830	Disease	p.Asn705Ser	VAR_009776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009776	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	5	cd06930	NULL
367	113830	Disease	p.Asn705Ser	VAR_009776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009776	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	34	cd07075	NULL
367	113830	Disease	p.Asn705Ser	VAR_009776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009776	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	34	cd07074	NULL
367	113830	Disease	p.Asn705Ser	VAR_009776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009776	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	34	cd07076	NULL
367	113830	Disease	p.Asn705Ser	VAR_009776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009776	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	47	cd06943	NULL
367	113830	Disease	p.Asn705Ser	VAR_009776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009776	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	34	cd07073	NULL
367	113830	Disease	p.Asn705Ser	VAR_009776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009776	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	34	cd06947	NULL
367	113830	Disease	p.Asn705Ser	VAR_009776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009776	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	38	cd06931	NULL
367	113830	Disease	p.Asn705Ser	VAR_009776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009776	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	cd06944	NULL
367	113830	Disease	p.Asn705Ser	VAR_009776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009776	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	45	cd06949	NULL
367	113830	Disease	p.Asn705Ser	VAR_009776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009776	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	8	cd06929	NULL
367	113830	Disease	p.Asn705Ser	VAR_009776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009776	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	45	cd07070	NULL
367	113830	Disease	p.Asn705Tyr	VAR_013475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013475	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	72	cd06946	NULL
367	113830	Disease	p.Asn705Tyr	VAR_013475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013475	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	72	cd07068	NULL
367	113830	Disease	p.Asn705Tyr	VAR_013475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013475	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	35	cd06953	NULL
367	113830	Disease	p.Asn705Tyr	VAR_013475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013475	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	83	cd06945	NULL
367	113830	Disease	p.Asn705Tyr	VAR_013475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013475	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	4	cd06157	NULL
367	113830	Disease	p.Asn705Tyr	VAR_013475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013475	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	5	cd06930	NULL
367	113830	Disease	p.Asn705Tyr	VAR_013475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013475	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	34	cd07075	NULL
367	113830	Disease	p.Asn705Tyr	VAR_013475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013475	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	34	cd07074	NULL
367	113830	Disease	p.Asn705Tyr	VAR_013475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013475	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	34	cd07076	NULL
367	113830	Disease	p.Asn705Tyr	VAR_013475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013475	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	47	cd06943	NULL
367	113830	Disease	p.Asn705Tyr	VAR_013475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013475	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	34	cd07073	NULL
367	113830	Disease	p.Asn705Tyr	VAR_013475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013475	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	34	cd06947	NULL
367	113830	Disease	p.Asn705Tyr	VAR_013475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013475	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	38	cd06931	NULL
367	113830	Disease	p.Asn705Tyr	VAR_013475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013475	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	30	cd06944	NULL
367	113830	Disease	p.Asn705Tyr	VAR_013475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013475	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	45	cd06949	NULL
367	113830	Disease	p.Asn705Tyr	VAR_013475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013475	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	8	cd06929	NULL
367	113830	Disease	p.Asn705Tyr	VAR_013475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013475	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	45	cd07070	NULL
367	113830	Disease	p.Leu707Arg	VAR_004694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004694	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	74	cd06946	NULL
367	113830	Disease	p.Leu707Arg	VAR_004694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004694	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	74	cd07068	NULL
367	113830	Disease	p.Leu707Arg	VAR_004694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004694	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	37	cd06953	NULL
367	113830	Disease	p.Leu707Arg	VAR_004694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004694	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	85	cd06945	NULL
367	113830	Disease	p.Leu707Arg	VAR_004694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004694	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	6	cd06157	NULL
367	113830	Disease	p.Leu707Arg	VAR_004694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004694	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	7	cd06930	NULL
367	113830	Disease	p.Leu707Arg	VAR_004694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004694	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	36	cd07075	NULL
367	113830	Disease	p.Leu707Arg	VAR_004694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004694	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	36	cd07074	NULL
367	113830	Disease	p.Leu707Arg	VAR_004694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004694	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	36	cd07076	NULL
367	113830	Disease	p.Leu707Arg	VAR_004694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004694	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	49	cd06943	NULL
367	113830	Disease	p.Leu707Arg	VAR_004694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004694	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	36	cd07073	NULL
367	113830	Disease	p.Leu707Arg	VAR_004694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004694	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	36	cd06947	NULL
367	113830	Disease	p.Leu707Arg	VAR_004694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004694	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	40	cd06931	NULL
367	113830	Disease	p.Leu707Arg	VAR_004694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004694	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	32	cd06944	NULL
367	113830	Disease	p.Leu707Arg	VAR_004694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004694	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	47	cd06949	NULL
367	113830	Disease	p.Leu707Arg	VAR_004694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004694	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	10	cd06929	NULL
367	113830	Disease	p.Leu707Arg	VAR_004694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004694	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	47	cd07070	NULL
367	113830	Disease	p.Gly708Ala	VAR_009777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009777	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	75	cd06946	NULL
367	113830	Disease	p.Gly708Ala	VAR_009777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009777	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	75	cd07068	NULL
367	113830	Disease	p.Gly708Ala	VAR_009777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009777	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	38	cd06953	NULL
367	113830	Disease	p.Gly708Ala	VAR_009777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009777	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	85_G	cd06945	NULL
367	113830	Disease	p.Gly708Ala	VAR_009777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009777	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	7	cd06157	NULL
367	113830	Disease	p.Gly708Ala	VAR_009777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009777	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	8	cd06930	NULL
367	113830	Disease	p.Gly708Ala	VAR_009777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009777	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	37	cd07075	NULL
367	113830	Disease	p.Gly708Ala	VAR_009777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009777	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	37	cd07074	NULL
367	113830	Disease	p.Gly708Ala	VAR_009777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009777	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	37	cd07076	NULL
367	113830	Disease	p.Gly708Ala	VAR_009777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009777	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	50	cd06943	NULL
367	113830	Disease	p.Gly708Ala	VAR_009777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009777	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	37	cd07073	NULL
367	113830	Disease	p.Gly708Ala	VAR_009777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009777	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	37	cd06947	NULL
367	113830	Disease	p.Gly708Ala	VAR_009777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009777	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	41	cd06931	NULL
367	113830	Disease	p.Gly708Ala	VAR_009777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009777	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	33	cd06944	NULL
367	113830	Disease	p.Gly708Ala	VAR_009777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009777	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	48	cd06949	NULL
367	113830	Disease	p.Gly708Ala	VAR_009777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009777	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	11	cd06929	NULL
367	113830	Disease	p.Gly708Ala	VAR_009777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009777	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	48	cd07070	NULL
367	113830	Disease	p.Gly708Val	VAR_009778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009778	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	75	cd06946	NULL
367	113830	Disease	p.Gly708Val	VAR_009778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009778	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	75	cd07068	NULL
367	113830	Disease	p.Gly708Val	VAR_009778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009778	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	38	cd06953	NULL
367	113830	Disease	p.Gly708Val	VAR_009778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009778	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	85_G	cd06945	NULL
367	113830	Disease	p.Gly708Val	VAR_009778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009778	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	7	cd06157	NULL
367	113830	Disease	p.Gly708Val	VAR_009778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009778	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	8	cd06930	NULL
367	113830	Disease	p.Gly708Val	VAR_009778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009778	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	37	cd07075	NULL
367	113830	Disease	p.Gly708Val	VAR_009778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009778	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	37	cd07074	NULL
367	113830	Disease	p.Gly708Val	VAR_009778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009778	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	37	cd07076	NULL
367	113830	Disease	p.Gly708Val	VAR_009778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009778	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	50	cd06943	NULL
367	113830	Disease	p.Gly708Val	VAR_009778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009778	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	37	cd07073	NULL
367	113830	Disease	p.Gly708Val	VAR_009778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009778	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	37	cd06947	NULL
367	113830	Disease	p.Gly708Val	VAR_009778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009778	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	41	cd06931	NULL
367	113830	Disease	p.Gly708Val	VAR_009778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009778	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	33	cd06944	NULL
367	113830	Disease	p.Gly708Val	VAR_009778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009778	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	48	cd06949	NULL
367	113830	Disease	p.Gly708Val	VAR_009778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009778	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	11	cd06929	NULL
367	113830	Disease	p.Gly708Val	VAR_009778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009778	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	48	cd07070	NULL
367	113830	Disease	p.Arg710Thr	VAR_009779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009779	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	77	cd06946	NULL
367	113830	Disease	p.Arg710Thr	VAR_009779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009779	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	77	cd07068	NULL
367	113830	Disease	p.Arg710Thr	VAR_009779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009779	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	40	cd06953	NULL
367	113830	Disease	p.Arg710Thr	VAR_009779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009779	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	85_G	cd06945	NULL
367	113830	Disease	p.Arg710Thr	VAR_009779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009779	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	9	cd06157	NULL
367	113830	Disease	p.Arg710Thr	VAR_009779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009779	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	10	cd06930	NULL
367	113830	Disease	p.Arg710Thr	VAR_009779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009779	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	39	cd07075	NULL
367	113830	Disease	p.Arg710Thr	VAR_009779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009779	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	39	cd07074	NULL
367	113830	Disease	p.Arg710Thr	VAR_009779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009779	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	39	cd07076	NULL
367	113830	Disease	p.Arg710Thr	VAR_009779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009779	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	52	cd06943	NULL
367	113830	Disease	p.Arg710Thr	VAR_009779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009779	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	39	cd07073	NULL
367	113830	Disease	p.Arg710Thr	VAR_009779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009779	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	39	cd06947	NULL
367	113830	Disease	p.Arg710Thr	VAR_009779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009779	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	3	smart00430	NULL
367	113830	Disease	p.Arg710Thr	VAR_009779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009779	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	46	cd06931	NULL
367	113830	Disease	p.Arg710Thr	VAR_009779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009779	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	52	cd06944	NULL
367	113830	Disease	p.Arg710Thr	VAR_009779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009779	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	50	cd06949	NULL
367	113830	Disease	p.Arg710Thr	VAR_009779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009779	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	cd06929	NULL
367	113830	Disease	p.Arg710Thr	VAR_009779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009779	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	50	cd07070	NULL
367	113830	Disease	p.Gln711Glu	VAR_013476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013476	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	78	cd06946	NULL
367	113830	Disease	p.Gln711Glu	VAR_013476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013476	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	78	cd07068	NULL
367	113830	Disease	p.Gln711Glu	VAR_013476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013476	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	41	cd06953	NULL
367	113830	Disease	p.Gln711Glu	VAR_013476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013476	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	85_G	cd06945	NULL
367	113830	Disease	p.Gln711Glu	VAR_013476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013476	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	10	cd06157	NULL
367	113830	Disease	p.Gln711Glu	VAR_013476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013476	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	11	cd06930	NULL
367	113830	Disease	p.Gln711Glu	VAR_013476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013476	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	40	cd07075	NULL
367	113830	Disease	p.Gln711Glu	VAR_013476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013476	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	40	cd07074	NULL
367	113830	Disease	p.Gln711Glu	VAR_013476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013476	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	40	cd07076	NULL
367	113830	Disease	p.Gln711Glu	VAR_013476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013476	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	53	cd06943	NULL
367	113830	Disease	p.Gln711Glu	VAR_013476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013476	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	40	cd07073	NULL
367	113830	Disease	p.Gln711Glu	VAR_013476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013476	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	40	cd06947	NULL
367	113830	Disease	p.Gln711Glu	VAR_013476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013476	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	4	smart00430	NULL
367	113830	Disease	p.Gln711Glu	VAR_013476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013476	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	47	cd06931	NULL
367	113830	Disease	p.Gln711Glu	VAR_013476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013476	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	53	cd06944	NULL
367	113830	Disease	p.Gln711Glu	VAR_013476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013476	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	51	cd06949	NULL
367	113830	Disease	p.Gln711Glu	VAR_013476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013476	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	14	cd06929	NULL
367	113830	Disease	p.Gln711Glu	VAR_013476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013476	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	51	cd07070	NULL
367	113830	Disease	p.Leu712Phe	VAR_009780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009780	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	79	cd06946	NULL
367	113830	Disease	p.Leu712Phe	VAR_009780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009780	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	79	cd07068	NULL
367	113830	Disease	p.Leu712Phe	VAR_009780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009780	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	42	cd06953	NULL
367	113830	Disease	p.Leu712Phe	VAR_009780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009780	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	85_G	cd06945	NULL
367	113830	Disease	p.Leu712Phe	VAR_009780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009780	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	11	cd06157	NULL
367	113830	Disease	p.Leu712Phe	VAR_009780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009780	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	12	cd06930	NULL
367	113830	Disease	p.Leu712Phe	VAR_009780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009780	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	41	cd07075	NULL
367	113830	Disease	p.Leu712Phe	VAR_009780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009780	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	41	cd07074	NULL
367	113830	Disease	p.Leu712Phe	VAR_009780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009780	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	41	cd07076	NULL
367	113830	Disease	p.Leu712Phe	VAR_009780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009780	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	54	cd06943	NULL
367	113830	Disease	p.Leu712Phe	VAR_009780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009780	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	41	cd07073	NULL
367	113830	Disease	p.Leu712Phe	VAR_009780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009780	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	41	cd06947	NULL
367	113830	Disease	p.Leu712Phe	VAR_009780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009780	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	5	smart00430	NULL
367	113830	Disease	p.Leu712Phe	VAR_009780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009780	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	48	cd06931	NULL
367	113830	Disease	p.Leu712Phe	VAR_009780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009780	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	54	cd06944	NULL
367	113830	Disease	p.Leu712Phe	VAR_009780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009780	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd06949	NULL
367	113830	Disease	p.Leu712Phe	VAR_009780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009780	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	15	cd06929	NULL
367	113830	Disease	p.Leu712Phe	VAR_009780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009780	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd07070	NULL
367	113830	Disease	p.Leu722Phe	VAR_009785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009785	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	89	cd06946	NULL
367	113830	Disease	p.Leu722Phe	VAR_009785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009785	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	89	cd07068	NULL
367	113830	Disease	p.Leu722Phe	VAR_009785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009785	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	52	cd06953	NULL
367	113830	Disease	p.Leu722Phe	VAR_009785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009785	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	93	cd06945	NULL
367	113830	Disease	p.Leu722Phe	VAR_009785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009785	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	cd06157	NULL
367	113830	Disease	p.Leu722Phe	VAR_009785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009785	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	22	cd06930	NULL
367	113830	Disease	p.Leu722Phe	VAR_009785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009785	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	51	cd07075	NULL
367	113830	Disease	p.Leu722Phe	VAR_009785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009785	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	51	cd07074	NULL
367	113830	Disease	p.Leu722Phe	VAR_009785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009785	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	51	cd07076	NULL
367	113830	Disease	p.Leu722Phe	VAR_009785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009785	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	64	cd06943	NULL
367	113830	Disease	p.Leu722Phe	VAR_009785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009785	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	51	cd07073	NULL
367	113830	Disease	p.Leu722Phe	VAR_009785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009785	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	51	cd06947	NULL
367	113830	Disease	p.Leu722Phe	VAR_009785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009785	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	19	smart00430	NULL
367	113830	Disease	p.Leu722Phe	VAR_009785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009785	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	58	cd06931	NULL
367	113830	Disease	p.Leu722Phe	VAR_009785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009785	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	64	cd06944	NULL
367	113830	Disease	p.Leu722Phe	VAR_009785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009785	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd06949	NULL
367	113830	Disease	p.Leu722Phe	VAR_009785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009785	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	25	cd06929	NULL
367	113830	Disease	p.Leu722Phe	VAR_009785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009785	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd07070	NULL
367	113830	Disease	p.Pro723Ser	VAR_009786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009786	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	90	cd06946	NULL
367	113830	Disease	p.Pro723Ser	VAR_009786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009786	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	90	cd07068	NULL
367	113830	Disease	p.Pro723Ser	VAR_009786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009786	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	53	cd06953	NULL
367	113830	Disease	p.Pro723Ser	VAR_009786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009786	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	94	cd06945	NULL
367	113830	Disease	p.Pro723Ser	VAR_009786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009786	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	22	cd06157	NULL
367	113830	Disease	p.Pro723Ser	VAR_009786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009786	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd06930	NULL
367	113830	Disease	p.Pro723Ser	VAR_009786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009786	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	52	cd07075	NULL
367	113830	Disease	p.Pro723Ser	VAR_009786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009786	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	52	cd07074	NULL
367	113830	Disease	p.Pro723Ser	VAR_009786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009786	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	52	cd07076	NULL
367	113830	Disease	p.Pro723Ser	VAR_009786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009786	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	cd06943	NULL
367	113830	Disease	p.Pro723Ser	VAR_009786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009786	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	52	cd07073	NULL
367	113830	Disease	p.Pro723Ser	VAR_009786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009786	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	52	cd06947	NULL
367	113830	Disease	p.Pro723Ser	VAR_009786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009786	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	20	smart00430	NULL
367	113830	Disease	p.Pro723Ser	VAR_009786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009786	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd06931	NULL
367	113830	Disease	p.Pro723Ser	VAR_009786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009786	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	cd06944	NULL
367	113830	Disease	p.Pro723Ser	VAR_009786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009786	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	63	cd06949	NULL
367	113830	Disease	p.Pro723Ser	VAR_009786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009786	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	26	cd06929	NULL
367	113830	Disease	p.Pro723Ser	VAR_009786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009786	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	63	cd07070	NULL
367	113830	Disease	p.Gly724Asp	VAR_009787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009787	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	91	cd06946	NULL
367	113830	Disease	p.Gly724Asp	VAR_009787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009787	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	91	cd07068	NULL
367	113830	Disease	p.Gly724Asp	VAR_009787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009787	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	54	cd06953	NULL
367	113830	Disease	p.Gly724Asp	VAR_009787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009787	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	95	cd06945	NULL
367	113830	Disease	p.Gly724Asp	VAR_009787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009787	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	23	cd06157	NULL
367	113830	Disease	p.Gly724Asp	VAR_009787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009787	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	cd06930	NULL
367	113830	Disease	p.Gly724Asp	VAR_009787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009787	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	53	cd07075	NULL
367	113830	Disease	p.Gly724Asp	VAR_009787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009787	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	53	cd07074	NULL
367	113830	Disease	p.Gly724Asp	VAR_009787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009787	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	53	cd07076	NULL
367	113830	Disease	p.Gly724Asp	VAR_009787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009787	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	66	cd06943	NULL
367	113830	Disease	p.Gly724Asp	VAR_009787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009787	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	53	cd07073	NULL
367	113830	Disease	p.Gly724Asp	VAR_009787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009787	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	53	cd06947	NULL
367	113830	Disease	p.Gly724Asp	VAR_009787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009787	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	smart00430	NULL
367	113830	Disease	p.Gly724Asp	VAR_009787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009787	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	60	cd06931	NULL
367	113830	Disease	p.Gly724Asp	VAR_009787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009787	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	66	cd06944	NULL
367	113830	Disease	p.Gly724Asp	VAR_009787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009787	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	64	cd06949	NULL
367	113830	Disease	p.Gly724Asp	VAR_009787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009787	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd06929	NULL
367	113830	Disease	p.Gly724Asp	VAR_009787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009787	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	64	cd07070	NULL
367	113830	Disease	p.Asn727Lys	VAR_009790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009790	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	94	cd06946	NULL
367	113830	Disease	p.Asn727Lys	VAR_009790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009790	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	94	cd07068	NULL
367	113830	Disease	p.Asn727Lys	VAR_009790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009790	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	57	cd06953	NULL
367	113830	Disease	p.Asn727Lys	VAR_009790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009790	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	98	cd06945	NULL
367	113830	Disease	p.Asn727Lys	VAR_009790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009790	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	cd06157	NULL
367	113830	Disease	p.Asn727Lys	VAR_009790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009790	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	cd06930	NULL
367	113830	Disease	p.Asn727Lys	VAR_009790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009790	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	56	cd07075	NULL
367	113830	Disease	p.Asn727Lys	VAR_009790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009790	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	56	cd07074	NULL
367	113830	Disease	p.Asn727Lys	VAR_009790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009790	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	56	cd07076	NULL
367	113830	Disease	p.Asn727Lys	VAR_009790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009790	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	69	cd06943	NULL
367	113830	Disease	p.Asn727Lys	VAR_009790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009790	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	56	cd07073	NULL
367	113830	Disease	p.Asn727Lys	VAR_009790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009790	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	56	cd06947	NULL
367	113830	Disease	p.Asn727Lys	VAR_009790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009790	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	27	smart00430	NULL
367	113830	Disease	p.Asn727Lys	VAR_009790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009790	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	63	cd06931	NULL
367	113830	Disease	p.Asn727Lys	VAR_009790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009790	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	69	cd06944	NULL
367	113830	Disease	p.Asn727Lys	VAR_009790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009790	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	67	cd06949	NULL
367	113830	Disease	p.Asn727Lys	VAR_009790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009790	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	31	cd06929	NULL
367	113830	Disease	p.Asn727Lys	VAR_009790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009790	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	67	cd07070	NULL
367	113830	Disease	p.Leu728Ser	VAR_009791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009791	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	95	cd06946	NULL
367	113830	Disease	p.Leu728Ser	VAR_009791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009791	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	95	cd07068	NULL
367	113830	Disease	p.Leu728Ser	VAR_009791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009791	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	cd06953	NULL
367	113830	Disease	p.Leu728Ser	VAR_009791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009791	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	99	cd06945	NULL
367	113830	Disease	p.Leu728Ser	VAR_009791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009791	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	30	cd06157	NULL
367	113830	Disease	p.Leu728Ser	VAR_009791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009791	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	28	cd06930	NULL
367	113830	Disease	p.Leu728Ser	VAR_009791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009791	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	57	cd07075	NULL
367	113830	Disease	p.Leu728Ser	VAR_009791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009791	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	57	cd07074	NULL
367	113830	Disease	p.Leu728Ser	VAR_009791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009791	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	57	cd07076	NULL
367	113830	Disease	p.Leu728Ser	VAR_009791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009791	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	72	cd06943	NULL
367	113830	Disease	p.Leu728Ser	VAR_009791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009791	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	57	cd07073	NULL
367	113830	Disease	p.Leu728Ser	VAR_009791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009791	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	57	cd06947	NULL
367	113830	Disease	p.Leu728Ser	VAR_009791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009791	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	29	smart00430	NULL
367	113830	Disease	p.Leu728Ser	VAR_009791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009791	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	64	cd06931	NULL
367	113830	Disease	p.Leu728Ser	VAR_009791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009791	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	70	cd06944	NULL
367	113830	Disease	p.Leu728Ser	VAR_009791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009791	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	68	cd06949	NULL
367	113830	Disease	p.Leu728Ser	VAR_009791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009791	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	32	cd06929	NULL
367	113830	Disease	p.Leu728Ser	VAR_009791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009791	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	68	cd07070	NULL
367	113830	Disease	p.Asp732Asn	VAR_004696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004696	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	99	cd06946	NULL
367	113830	Disease	p.Asp732Asn	VAR_004696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004696	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	99	cd07068	NULL
367	113830	Disease	p.Asp732Asn	VAR_004696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004696	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd06953	NULL
367	113830	Disease	p.Asp732Asn	VAR_004696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004696	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	103	cd06945	NULL
367	113830	Disease	p.Asp732Asn	VAR_004696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004696	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	34	cd06157	NULL
367	113830	Disease	p.Asp732Asn	VAR_004696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004696	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	32	cd06930	NULL
367	113830	Disease	p.Asp732Asn	VAR_004696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004696	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd07075	NULL
367	113830	Disease	p.Asp732Asn	VAR_004696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004696	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd07074	NULL
367	113830	Disease	p.Asp732Asn	VAR_004696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004696	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd07076	NULL
367	113830	Disease	p.Asp732Asn	VAR_004696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004696	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	76	cd06943	NULL
367	113830	Disease	p.Asp732Asn	VAR_004696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004696	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd07073	NULL
367	113830	Disease	p.Asp732Asn	VAR_004696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004696	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd06947	NULL
367	113830	Disease	p.Asp732Asn	VAR_004696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004696	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	35	smart00430	NULL
367	113830	Disease	p.Asp732Asn	VAR_004696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004696	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	68	cd06931	NULL
367	113830	Disease	p.Asp732Asn	VAR_004696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004696	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	74	cd06944	NULL
367	113830	Disease	p.Asp732Asn	VAR_004696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004696	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	72	cd06949	NULL
367	113830	Disease	p.Asp732Asn	VAR_004696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004696	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	36	cd06929	NULL
367	113830	Disease	p.Asp732Asn	VAR_004696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004696	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	72	cd07070	NULL
367	113830	Disease	p.Asp732Tyr	VAR_004697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004697	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	99	cd06946	NULL
367	113830	Disease	p.Asp732Tyr	VAR_004697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004697	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	99	cd07068	NULL
367	113830	Disease	p.Asp732Tyr	VAR_004697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004697	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd06953	NULL
367	113830	Disease	p.Asp732Tyr	VAR_004697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004697	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	103	cd06945	NULL
367	113830	Disease	p.Asp732Tyr	VAR_004697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004697	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	34	cd06157	NULL
367	113830	Disease	p.Asp732Tyr	VAR_004697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004697	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	32	cd06930	NULL
367	113830	Disease	p.Asp732Tyr	VAR_004697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004697	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd07075	NULL
367	113830	Disease	p.Asp732Tyr	VAR_004697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004697	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd07074	NULL
367	113830	Disease	p.Asp732Tyr	VAR_004697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004697	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd07076	NULL
367	113830	Disease	p.Asp732Tyr	VAR_004697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004697	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	76	cd06943	NULL
367	113830	Disease	p.Asp732Tyr	VAR_004697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004697	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd07073	NULL
367	113830	Disease	p.Asp732Tyr	VAR_004697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004697	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	61	cd06947	NULL
367	113830	Disease	p.Asp732Tyr	VAR_004697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004697	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	35	smart00430	NULL
367	113830	Disease	p.Asp732Tyr	VAR_004697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004697	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	68	cd06931	NULL
367	113830	Disease	p.Asp732Tyr	VAR_004697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004697	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	74	cd06944	NULL
367	113830	Disease	p.Asp732Tyr	VAR_004697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004697	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	72	cd06949	NULL
367	113830	Disease	p.Asp732Tyr	VAR_004697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004697	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	36	cd06929	NULL
367	113830	Disease	p.Asp732Tyr	VAR_004697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004697	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	72	cd07070	NULL
367	113830	Disease	p.Gln733His	VAR_009792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009792	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	100	cd06946	NULL
367	113830	Disease	p.Gln733His	VAR_009792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009792	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	100	cd07068	NULL
367	113830	Disease	p.Gln733His	VAR_009792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009792	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	63	cd06953	NULL
367	113830	Disease	p.Gln733His	VAR_009792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009792	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	104	cd06945	NULL
367	113830	Disease	p.Gln733His	VAR_009792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009792	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	35	cd06157	NULL
367	113830	Disease	p.Gln733His	VAR_009792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009792	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	33	cd06930	NULL
367	113830	Disease	p.Gln733His	VAR_009792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009792	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	62	cd07075	NULL
367	113830	Disease	p.Gln733His	VAR_009792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009792	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	62	cd07074	NULL
367	113830	Disease	p.Gln733His	VAR_009792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009792	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	62	cd07076	NULL
367	113830	Disease	p.Gln733His	VAR_009792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009792	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	77	cd06943	NULL
367	113830	Disease	p.Gln733His	VAR_009792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009792	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	62	cd07073	NULL
367	113830	Disease	p.Gln733His	VAR_009792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009792	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	62	cd06947	NULL
367	113830	Disease	p.Gln733His	VAR_009792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009792	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	36	smart00430	NULL
367	113830	Disease	p.Gln733His	VAR_009792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009792	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	2	pfam00104	NULL
367	113830	Disease	p.Gln733His	VAR_009792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009792	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	69	cd06931	NULL
367	113830	Disease	p.Gln733His	VAR_009792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009792	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	75	cd06944	NULL
367	113830	Disease	p.Gln733His	VAR_009792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009792	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	73	cd06949	NULL
367	113830	Disease	p.Gln733His	VAR_009792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009792	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	37	cd06929	NULL
367	113830	Disease	p.Gln733His	VAR_009792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009792	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	73	cd07070	NULL
367	113830	Disease	p.Ile737Thr	VAR_009793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009793	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	104	cd06946	NULL
367	113830	Disease	p.Ile737Thr	VAR_009793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009793	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	104	cd07068	NULL
367	113830	Disease	p.Ile737Thr	VAR_009793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009793	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	67	cd06953	NULL
367	113830	Disease	p.Ile737Thr	VAR_009793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009793	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	108	cd06945	NULL
367	113830	Disease	p.Ile737Thr	VAR_009793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009793	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	39	cd06157	NULL
367	113830	Disease	p.Ile737Thr	VAR_009793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009793	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	37	cd06930	NULL
367	113830	Disease	p.Ile737Thr	VAR_009793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009793	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	66	cd07075	NULL
367	113830	Disease	p.Ile737Thr	VAR_009793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009793	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	66	cd07074	NULL
367	113830	Disease	p.Ile737Thr	VAR_009793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009793	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	66	cd07076	NULL
367	113830	Disease	p.Ile737Thr	VAR_009793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009793	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	81	cd06943	NULL
367	113830	Disease	p.Ile737Thr	VAR_009793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009793	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	66	cd07073	NULL
367	113830	Disease	p.Ile737Thr	VAR_009793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009793	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	66	cd06947	NULL
367	113830	Disease	p.Ile737Thr	VAR_009793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009793	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	76	smart00430	NULL
367	113830	Disease	p.Ile737Thr	VAR_009793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009793	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	6	pfam00104	NULL
367	113830	Disease	p.Ile737Thr	VAR_009793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009793	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	73	cd06931	NULL
367	113830	Disease	p.Ile737Thr	VAR_009793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009793	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	79	cd06944	NULL
367	113830	Disease	p.Ile737Thr	VAR_009793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009793	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	77	cd06949	NULL
367	113830	Disease	p.Ile737Thr	VAR_009793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009793	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	41	cd06929	NULL
367	113830	Disease	p.Ile737Thr	VAR_009793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009793	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	77	cd07070	NULL
367	113830	Disease	p.Trp741Arg	VAR_009794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009794	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	108	cd06946	NULL
367	113830	Disease	p.Trp741Arg	VAR_009794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009794	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	108	cd07068	NULL
367	113830	Disease	p.Trp741Arg	VAR_009794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009794	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	71	cd06953	NULL
367	113830	Disease	p.Trp741Arg	VAR_009794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009794	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	112	cd06945	NULL
367	113830	Disease	p.Trp741Arg	VAR_009794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009794	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	43	cd06157	NULL
367	113830	Disease	p.Trp741Arg	VAR_009794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009794	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	41	cd06930	NULL
367	113830	Disease	p.Trp741Arg	VAR_009794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009794	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	70	cd07075	NULL
367	113830	Disease	p.Trp741Arg	VAR_009794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009794	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	70	cd07074	NULL
367	113830	Disease	p.Trp741Arg	VAR_009794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009794	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	70	cd07076	NULL
367	113830	Disease	p.Trp741Arg	VAR_009794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009794	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	85	cd06943	NULL
367	113830	Disease	p.Trp741Arg	VAR_009794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009794	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	70	cd07073	NULL
367	113830	Disease	p.Trp741Arg	VAR_009794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009794	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	70	cd06947	NULL
367	113830	Disease	p.Trp741Arg	VAR_009794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009794	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	173	smart00430	NULL
367	113830	Disease	p.Trp741Arg	VAR_009794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009794	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	10	pfam00104	NULL
367	113830	Disease	p.Trp741Arg	VAR_009794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009794	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	77	cd06931	NULL
367	113830	Disease	p.Trp741Arg	VAR_009794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009794	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	83	cd06944	NULL
367	113830	Disease	p.Trp741Arg	VAR_009794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009794	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	81	cd06949	NULL
367	113830	Disease	p.Trp741Arg	VAR_009794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009794	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	45	cd06929	NULL
367	113830	Disease	p.Trp741Arg	VAR_009794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009794	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	81	cd07070	NULL
367	113830	Disease	p.Met742Ile	VAR_004698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004698	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	109	cd06946	NULL
367	113830	Disease	p.Met742Ile	VAR_004698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004698	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	109	cd07068	NULL
367	113830	Disease	p.Met742Ile	VAR_004698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004698	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	72	cd06953	NULL
367	113830	Disease	p.Met742Ile	VAR_004698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004698	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	113	cd06945	NULL
367	113830	Disease	p.Met742Ile	VAR_004698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004698	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	44	cd06157	NULL
367	113830	Disease	p.Met742Ile	VAR_004698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004698	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	42	cd06930	NULL
367	113830	Disease	p.Met742Ile	VAR_004698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004698	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	71	cd07075	NULL
367	113830	Disease	p.Met742Ile	VAR_004698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004698	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	71	cd07074	NULL
367	113830	Disease	p.Met742Ile	VAR_004698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004698	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	71	cd07076	NULL
367	113830	Disease	p.Met742Ile	VAR_004698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004698	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	86	cd06943	NULL
367	113830	Disease	p.Met742Ile	VAR_004698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004698	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	71	cd07073	NULL
367	113830	Disease	p.Met742Ile	VAR_004698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004698	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	71	cd06947	NULL
367	113830	Disease	p.Met742Ile	VAR_004698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004698	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	174	smart00430	NULL
367	113830	Disease	p.Met742Ile	VAR_004698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004698	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	11	pfam00104	NULL
367	113830	Disease	p.Met742Ile	VAR_004698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004698	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	78	cd06931	NULL
367	113830	Disease	p.Met742Ile	VAR_004698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004698	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	84	cd06944	NULL
367	113830	Disease	p.Met742Ile	VAR_004698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004698	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	82	cd06949	NULL
367	113830	Disease	p.Met742Ile	VAR_004698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004698	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	46	cd06929	NULL
367	113830	Disease	p.Met742Ile	VAR_004698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004698	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	82	cd07070	NULL
367	113830	Disease	p.Met742Val	VAR_009795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009795	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	109	cd06946	NULL
367	113830	Disease	p.Met742Val	VAR_009795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009795	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	109	cd07068	NULL
367	113830	Disease	p.Met742Val	VAR_009795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009795	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	72	cd06953	NULL
367	113830	Disease	p.Met742Val	VAR_009795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009795	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	113	cd06945	NULL
367	113830	Disease	p.Met742Val	VAR_009795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009795	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	44	cd06157	NULL
367	113830	Disease	p.Met742Val	VAR_009795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009795	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	42	cd06930	NULL
367	113830	Disease	p.Met742Val	VAR_009795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009795	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	71	cd07075	NULL
367	113830	Disease	p.Met742Val	VAR_009795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009795	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	71	cd07074	NULL
367	113830	Disease	p.Met742Val	VAR_009795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009795	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	71	cd07076	NULL
367	113830	Disease	p.Met742Val	VAR_009795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009795	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	86	cd06943	NULL
367	113830	Disease	p.Met742Val	VAR_009795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009795	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	71	cd07073	NULL
367	113830	Disease	p.Met742Val	VAR_009795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009795	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	71	cd06947	NULL
367	113830	Disease	p.Met742Val	VAR_009795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009795	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	174	smart00430	NULL
367	113830	Disease	p.Met742Val	VAR_009795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009795	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	11	pfam00104	NULL
367	113830	Disease	p.Met742Val	VAR_009795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009795	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	78	cd06931	NULL
367	113830	Disease	p.Met742Val	VAR_009795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009795	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	84	cd06944	NULL
367	113830	Disease	p.Met742Val	VAR_009795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009795	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	82	cd06949	NULL
367	113830	Disease	p.Met742Val	VAR_009795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009795	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	46	cd06929	NULL
367	113830	Disease	p.Met742Val	VAR_009795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009795	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	82	cd07070	NULL
367	113830	Disease	p.Gly743Glu	VAR_013477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013477	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	110	cd06946	NULL
367	113830	Disease	p.Gly743Glu	VAR_013477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013477	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	110	cd07068	NULL
367	113830	Disease	p.Gly743Glu	VAR_013477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013477	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	73	cd06953	NULL
367	113830	Disease	p.Gly743Glu	VAR_013477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013477	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	114	cd06945	NULL
367	113830	Disease	p.Gly743Glu	VAR_013477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013477	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	45	cd06157	NULL
367	113830	Disease	p.Gly743Glu	VAR_013477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013477	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	43	cd06930	NULL
367	113830	Disease	p.Gly743Glu	VAR_013477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013477	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	72	cd07075	NULL
367	113830	Disease	p.Gly743Glu	VAR_013477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013477	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	72	cd07074	NULL
367	113830	Disease	p.Gly743Glu	VAR_013477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013477	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	72	cd07076	NULL
367	113830	Disease	p.Gly743Glu	VAR_013477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013477	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	87	cd06943	NULL
367	113830	Disease	p.Gly743Glu	VAR_013477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013477	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	72	cd07073	NULL
367	113830	Disease	p.Gly743Glu	VAR_013477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013477	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	72	cd06947	NULL
367	113830	Disease	p.Gly743Glu	VAR_013477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013477	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	175	smart00430	NULL
367	113830	Disease	p.Gly743Glu	VAR_013477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013477	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	12	pfam00104	NULL
367	113830	Disease	p.Gly743Glu	VAR_013477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013477	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	79	cd06931	NULL
367	113830	Disease	p.Gly743Glu	VAR_013477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013477	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	85	cd06944	NULL
367	113830	Disease	p.Gly743Glu	VAR_013477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013477	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	83	cd06949	NULL
367	113830	Disease	p.Gly743Glu	VAR_013477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013477	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	47	cd06929	NULL
367	113830	Disease	p.Gly743Glu	VAR_013477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013477	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	83	cd07070	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	110	cd06946	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	110	cd07068	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	73	cd06953	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	114	cd06945	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	45	cd06157	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	43	cd06930	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	72	cd07075	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	72	cd07074	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	72	cd07076	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	87	cd06943	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	72	cd07073	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	72	cd06947	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	175	smart00430	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	12	pfam00104	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	79	cd06931	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	85	cd06944	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	83	cd06949	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	47	cd06929	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	83	cd07070	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	110	cd06946	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	110	cd07068	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	73	cd06953	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	114	cd06945	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	45	cd06157	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	43	cd06930	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	72	cd07075	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	72	cd07074	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	72	cd07076	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	87	cd06943	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	72	cd07073	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	72	cd06947	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	175	smart00430	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	12	pfam00104	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	79	cd06931	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	85	cd06944	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	83	cd06949	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	47	cd06929	NULL
367	113830	Disease	p.Gly743Val	VAR_004699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004699	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	83	cd07070	NULL
367	113830	Disease	p.Leu744Phe	VAR_009796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009796	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	111	cd06946	NULL
367	113830	Disease	p.Leu744Phe	VAR_009796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009796	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	111	cd07068	NULL
367	113830	Disease	p.Leu744Phe	VAR_009796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009796	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	74	cd06953	NULL
367	113830	Disease	p.Leu744Phe	VAR_009796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009796	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	115	cd06945	NULL
367	113830	Disease	p.Leu744Phe	VAR_009796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009796	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	46	cd06157	NULL
367	113830	Disease	p.Leu744Phe	VAR_009796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009796	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	44	cd06930	NULL
367	113830	Disease	p.Leu744Phe	VAR_009796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009796	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	73	cd07075	NULL
367	113830	Disease	p.Leu744Phe	VAR_009796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009796	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	73	cd07074	NULL
367	113830	Disease	p.Leu744Phe	VAR_009796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009796	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	73	cd07076	NULL
367	113830	Disease	p.Leu744Phe	VAR_009796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009796	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	88	cd06943	NULL
367	113830	Disease	p.Leu744Phe	VAR_009796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009796	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	73	cd07073	NULL
367	113830	Disease	p.Leu744Phe	VAR_009796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009796	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	73	cd06947	NULL
367	113830	Disease	p.Leu744Phe	VAR_009796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009796	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	176	smart00430	NULL
367	113830	Disease	p.Leu744Phe	VAR_009796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009796	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	13	pfam00104	NULL
367	113830	Disease	p.Leu744Phe	VAR_009796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009796	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	80	cd06931	NULL
367	113830	Disease	p.Leu744Phe	VAR_009796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009796	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	86	cd06944	NULL
367	113830	Disease	p.Leu744Phe	VAR_009796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009796	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	84	cd06949	NULL
367	113830	Disease	p.Leu744Phe	VAR_009796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009796	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	48	cd06929	NULL
367	113830	Disease	p.Leu744Phe	VAR_009796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009796	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	84	cd07070	NULL
367	113830	Disease	p.Met745Thr	VAR_009797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009797	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	112	cd06946	NULL
367	113830	Disease	p.Met745Thr	VAR_009797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009797	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	112	cd07068	NULL
367	113830	Disease	p.Met745Thr	VAR_009797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009797	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	75	cd06953	NULL
367	113830	Disease	p.Met745Thr	VAR_009797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009797	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	116	cd06945	NULL
367	113830	Disease	p.Met745Thr	VAR_009797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009797	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	48	cd06157	NULL
367	113830	Disease	p.Met745Thr	VAR_009797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009797	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	45	cd06930	NULL
367	113830	Disease	p.Met745Thr	VAR_009797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009797	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	74	cd07075	NULL
367	113830	Disease	p.Met745Thr	VAR_009797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009797	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	74	cd07074	NULL
367	113830	Disease	p.Met745Thr	VAR_009797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009797	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	74	cd07076	NULL
367	113830	Disease	p.Met745Thr	VAR_009797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009797	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	89	cd06943	NULL
367	113830	Disease	p.Met745Thr	VAR_009797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009797	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	74	cd07073	NULL
367	113830	Disease	p.Met745Thr	VAR_009797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009797	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	74	cd06947	NULL
367	113830	Disease	p.Met745Thr	VAR_009797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009797	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	178	smart00430	NULL
367	113830	Disease	p.Met745Thr	VAR_009797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009797	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	15	pfam00104	NULL
367	113830	Disease	p.Met745Thr	VAR_009797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009797	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	81	cd06931	NULL
367	113830	Disease	p.Met745Thr	VAR_009797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009797	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	87	cd06944	NULL
367	113830	Disease	p.Met745Thr	VAR_009797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009797	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	85	cd06949	NULL
367	113830	Disease	p.Met745Thr	VAR_009797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009797	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	50	cd06929	NULL
367	113830	Disease	p.Met745Thr	VAR_009797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009797	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	85	cd07070	NULL
367	113830	Disease	p.Val746Met	VAR_009798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009798	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	113	cd06946	NULL
367	113830	Disease	p.Val746Met	VAR_009798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009798	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	113	cd07068	NULL
367	113830	Disease	p.Val746Met	VAR_009798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009798	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	76	cd06953	NULL
367	113830	Disease	p.Val746Met	VAR_009798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009798	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	117	cd06945	NULL
367	113830	Disease	p.Val746Met	VAR_009798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009798	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	49	cd06157	NULL
367	113830	Disease	p.Val746Met	VAR_009798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009798	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	46	cd06930	NULL
367	113830	Disease	p.Val746Met	VAR_009798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009798	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	75	cd07075	NULL
367	113830	Disease	p.Val746Met	VAR_009798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009798	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	75	cd07074	NULL
367	113830	Disease	p.Val746Met	VAR_009798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009798	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	75	cd07076	NULL
367	113830	Disease	p.Val746Met	VAR_009798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009798	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	90	cd06943	NULL
367	113830	Disease	p.Val746Met	VAR_009798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009798	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	75	cd07073	NULL
367	113830	Disease	p.Val746Met	VAR_009798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009798	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	75	cd06947	NULL
367	113830	Disease	p.Val746Met	VAR_009798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009798	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	179	smart00430	NULL
367	113830	Disease	p.Val746Met	VAR_009798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009798	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	16	pfam00104	NULL
367	113830	Disease	p.Val746Met	VAR_009798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009798	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	82	cd06931	NULL
367	113830	Disease	p.Val746Met	VAR_009798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009798	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	88	cd06944	NULL
367	113830	Disease	p.Val746Met	VAR_009798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009798	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	86	cd06949	NULL
367	113830	Disease	p.Val746Met	VAR_009798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009798	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	51	cd06929	NULL
367	113830	Disease	p.Val746Met	VAR_009798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009798	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	86	cd07070	NULL
367	113830	Disease	p.Ala748Asp	VAR_009799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009799	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	115	cd06946	NULL
367	113830	Disease	p.Ala748Asp	VAR_009799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009799	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	115	cd07068	NULL
367	113830	Disease	p.Ala748Asp	VAR_009799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009799	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	78	cd06953	NULL
367	113830	Disease	p.Ala748Asp	VAR_009799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009799	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	119	cd06945	NULL
367	113830	Disease	p.Ala748Asp	VAR_009799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009799	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	51	cd06157	NULL
367	113830	Disease	p.Ala748Asp	VAR_009799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009799	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	48	cd06930	NULL
367	113830	Disease	p.Ala748Asp	VAR_009799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009799	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	77	cd07075	NULL
367	113830	Disease	p.Ala748Asp	VAR_009799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009799	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	77	cd07074	NULL
367	113830	Disease	p.Ala748Asp	VAR_009799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009799	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	77	cd07076	NULL
367	113830	Disease	p.Ala748Asp	VAR_009799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009799	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	92	cd06943	NULL
367	113830	Disease	p.Ala748Asp	VAR_009799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009799	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	77	cd07073	NULL
367	113830	Disease	p.Ala748Asp	VAR_009799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009799	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	77	cd06947	NULL
367	113830	Disease	p.Ala748Asp	VAR_009799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009799	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	181	smart00430	NULL
367	113830	Disease	p.Ala748Asp	VAR_009799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009799	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	18	pfam00104	NULL
367	113830	Disease	p.Ala748Asp	VAR_009799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009799	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	84	cd06931	NULL
367	113830	Disease	p.Ala748Asp	VAR_009799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009799	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	90	cd06944	NULL
367	113830	Disease	p.Ala748Asp	VAR_009799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009799	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	88	cd06949	NULL
367	113830	Disease	p.Ala748Asp	VAR_009799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009799	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	53	cd06929	NULL
367	113830	Disease	p.Ala748Asp	VAR_009799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009799	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	88	cd07070	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	116	cd06946	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	116	cd07068	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	79	cd06953	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	120	cd06945	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	52	cd06157	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	49	cd06930	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	78	cd07075	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	78	cd07074	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	78	cd07076	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	93	cd06943	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	78	cd07073	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	78	cd06947	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	182	smart00430	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	19	pfam00104	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	85	cd06931	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	91	cd06944	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	89	cd06949	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	54	cd06929	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	89	cd07070	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	116	cd06946	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	116	cd07068	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	79	cd06953	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	120	cd06945	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	52	cd06157	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	49	cd06930	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	78	cd07075	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	78	cd07074	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	78	cd07076	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	93	cd06943	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	78	cd07073	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	78	cd06947	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	182	smart00430	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	19	pfam00104	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	85	cd06931	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	91	cd06944	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	89	cd06949	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	54	cd06929	NULL
367	113830	Disease	p.Met749Val	VAR_004700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004700	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	89	cd07070	NULL
367	113830	Disease	p.Gly750Asp	VAR_004701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004701	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	117	cd06946	NULL
367	113830	Disease	p.Gly750Asp	VAR_004701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004701	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	117	cd07068	NULL
367	113830	Disease	p.Gly750Asp	VAR_004701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004701	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	80	cd06953	NULL
367	113830	Disease	p.Gly750Asp	VAR_004701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004701	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	121	cd06945	NULL
367	113830	Disease	p.Gly750Asp	VAR_004701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004701	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	53	cd06157	NULL
367	113830	Disease	p.Gly750Asp	VAR_004701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004701	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	50	cd06930	NULL
367	113830	Disease	p.Gly750Asp	VAR_004701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004701	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	79	cd07075	NULL
367	113830	Disease	p.Gly750Asp	VAR_004701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004701	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	79	cd07074	NULL
367	113830	Disease	p.Gly750Asp	VAR_004701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004701	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	79	cd07076	NULL
367	113830	Disease	p.Gly750Asp	VAR_004701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004701	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	94	cd06943	NULL
367	113830	Disease	p.Gly750Asp	VAR_004701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004701	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	79	cd07073	NULL
367	113830	Disease	p.Gly750Asp	VAR_004701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004701	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	79	cd06947	NULL
367	113830	Disease	p.Gly750Asp	VAR_004701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004701	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	183	smart00430	NULL
367	113830	Disease	p.Gly750Asp	VAR_004701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004701	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	20	pfam00104	NULL
367	113830	Disease	p.Gly750Asp	VAR_004701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004701	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	86	cd06931	NULL
367	113830	Disease	p.Gly750Asp	VAR_004701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004701	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	92	cd06944	NULL
367	113830	Disease	p.Gly750Asp	VAR_004701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004701	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	90	cd06949	NULL
367	113830	Disease	p.Gly750Asp	VAR_004701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004701	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	55	cd06929	NULL
367	113830	Disease	p.Gly750Asp	VAR_004701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004701	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	90	cd07070	NULL
367	113830	Disease	p.Trp751Arg	VAR_009804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009804	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	118	cd06946	NULL
367	113830	Disease	p.Trp751Arg	VAR_009804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009804	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	118	cd07068	NULL
367	113830	Disease	p.Trp751Arg	VAR_009804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009804	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	81	cd06953	NULL
367	113830	Disease	p.Trp751Arg	VAR_009804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009804	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	122	cd06945	NULL
367	113830	Disease	p.Trp751Arg	VAR_009804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009804	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	54	cd06157	NULL
367	113830	Disease	p.Trp751Arg	VAR_009804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009804	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	51	cd06930	NULL
367	113830	Disease	p.Trp751Arg	VAR_009804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009804	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	80	cd07075	NULL
367	113830	Disease	p.Trp751Arg	VAR_009804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009804	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	80	cd07074	NULL
367	113830	Disease	p.Trp751Arg	VAR_009804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009804	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	80	cd07076	NULL
367	113830	Disease	p.Trp751Arg	VAR_009804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009804	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	95	cd06943	NULL
367	113830	Disease	p.Trp751Arg	VAR_009804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009804	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	80	cd07073	NULL
367	113830	Disease	p.Trp751Arg	VAR_009804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009804	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	80	cd06947	NULL
367	113830	Disease	p.Trp751Arg	VAR_009804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009804	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	189	smart00430	NULL
367	113830	Disease	p.Trp751Arg	VAR_009804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009804	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	21	pfam00104	NULL
367	113830	Disease	p.Trp751Arg	VAR_009804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009804	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	87	cd06931	NULL
367	113830	Disease	p.Trp751Arg	VAR_009804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009804	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	93	cd06944	NULL
367	113830	Disease	p.Trp751Arg	VAR_009804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009804	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	91	cd06949	NULL
367	113830	Disease	p.Trp751Arg	VAR_009804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009804	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	56	cd06929	NULL
367	113830	Disease	p.Trp751Arg	VAR_009804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009804	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	91	cd07070	NULL
367	113830	Disease	p.Arg752Gln	VAR_004702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004702	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	119	cd06946	NULL
367	113830	Disease	p.Arg752Gln	VAR_004702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004702	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	119	cd07068	NULL
367	113830	Disease	p.Arg752Gln	VAR_004702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004702	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	82	cd06953	NULL
367	113830	Disease	p.Arg752Gln	VAR_004702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004702	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	123	cd06945	NULL
367	113830	Disease	p.Arg752Gln	VAR_004702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004702	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	55	cd06157	NULL
367	113830	Disease	p.Arg752Gln	VAR_004702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004702	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	52	cd06930	NULL
367	113830	Disease	p.Arg752Gln	VAR_004702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004702	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	81	cd07075	NULL
367	113830	Disease	p.Arg752Gln	VAR_004702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004702	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	81	cd07074	NULL
367	113830	Disease	p.Arg752Gln	VAR_004702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004702	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	81	cd07076	NULL
367	113830	Disease	p.Arg752Gln	VAR_004702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004702	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	96	cd06943	NULL
367	113830	Disease	p.Arg752Gln	VAR_004702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004702	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	81	cd07073	NULL
367	113830	Disease	p.Arg752Gln	VAR_004702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004702	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	81	cd06947	NULL
367	113830	Disease	p.Arg752Gln	VAR_004702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004702	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	190	smart00430	NULL
367	113830	Disease	p.Arg752Gln	VAR_004702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004702	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	22	pfam00104	NULL
367	113830	Disease	p.Arg752Gln	VAR_004702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004702	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	88	cd06931	NULL
367	113830	Disease	p.Arg752Gln	VAR_004702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004702	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	94	cd06944	NULL
367	113830	Disease	p.Arg752Gln	VAR_004702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004702	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	92	cd06949	NULL
367	113830	Disease	p.Arg752Gln	VAR_004702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004702	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	57	cd06929	NULL
367	113830	Disease	p.Arg752Gln	VAR_004702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004702	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	92	cd07070	NULL
367	113830	Disease	p.Phe754Leu	VAR_009805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009805	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	121	cd06946	NULL
367	113830	Disease	p.Phe754Leu	VAR_009805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009805	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	121	cd07068	NULL
367	113830	Disease	p.Phe754Leu	VAR_009805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009805	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	84	cd06953	NULL
367	113830	Disease	p.Phe754Leu	VAR_009805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009805	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	124_G	cd06945	NULL
367	113830	Disease	p.Phe754Leu	VAR_009805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009805	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	57	cd06157	NULL
367	113830	Disease	p.Phe754Leu	VAR_009805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009805	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	54	cd06930	NULL
367	113830	Disease	p.Phe754Leu	VAR_009805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009805	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	83	cd07075	NULL
367	113830	Disease	p.Phe754Leu	VAR_009805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009805	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	83	cd07074	NULL
367	113830	Disease	p.Phe754Leu	VAR_009805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009805	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	83	cd07076	NULL
367	113830	Disease	p.Phe754Leu	VAR_009805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009805	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	98	cd06943	NULL
367	113830	Disease	p.Phe754Leu	VAR_009805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009805	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	83	cd07073	NULL
367	113830	Disease	p.Phe754Leu	VAR_009805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009805	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	83	cd06947	NULL
367	113830	Disease	p.Phe754Leu	VAR_009805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009805	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	195	smart00430	NULL
367	113830	Disease	p.Phe754Leu	VAR_009805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009805	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	24	pfam00104	NULL
367	113830	Disease	p.Phe754Leu	VAR_009805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009805	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	90	cd06931	NULL
367	113830	Disease	p.Phe754Leu	VAR_009805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009805	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	96	cd06944	NULL
367	113830	Disease	p.Phe754Leu	VAR_009805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009805	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	93_G	cd06949	NULL
367	113830	Disease	p.Phe754Leu	VAR_009805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009805	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	57_G	cd06929	NULL
367	113830	Disease	p.Phe754Leu	VAR_009805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009805	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	96	cd07070	NULL
367	113830	Disease	p.Phe754Val	VAR_004703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004703	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	121	cd06946	NULL
367	113830	Disease	p.Phe754Val	VAR_004703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004703	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	121	cd07068	NULL
367	113830	Disease	p.Phe754Val	VAR_004703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004703	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	84	cd06953	NULL
367	113830	Disease	p.Phe754Val	VAR_004703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004703	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	124_G	cd06945	NULL
367	113830	Disease	p.Phe754Val	VAR_004703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004703	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	57	cd06157	NULL
367	113830	Disease	p.Phe754Val	VAR_004703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004703	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	54	cd06930	NULL
367	113830	Disease	p.Phe754Val	VAR_004703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004703	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	83	cd07075	NULL
367	113830	Disease	p.Phe754Val	VAR_004703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004703	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	83	cd07074	NULL
367	113830	Disease	p.Phe754Val	VAR_004703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004703	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	83	cd07076	NULL
367	113830	Disease	p.Phe754Val	VAR_004703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004703	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	98	cd06943	NULL
367	113830	Disease	p.Phe754Val	VAR_004703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004703	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	83	cd07073	NULL
367	113830	Disease	p.Phe754Val	VAR_004703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004703	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	83	cd06947	NULL
367	113830	Disease	p.Phe754Val	VAR_004703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004703	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	195	smart00430	NULL
367	113830	Disease	p.Phe754Val	VAR_004703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004703	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	24	pfam00104	NULL
367	113830	Disease	p.Phe754Val	VAR_004703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004703	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	90	cd06931	NULL
367	113830	Disease	p.Phe754Val	VAR_004703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004703	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	96	cd06944	NULL
367	113830	Disease	p.Phe754Val	VAR_004703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004703	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	93_G	cd06949	NULL
367	113830	Disease	p.Phe754Val	VAR_004703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004703	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	57_G	cd06929	NULL
367	113830	Disease	p.Phe754Val	VAR_004703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004703	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	96	cd07070	NULL
367	113830	Disease	p.Asn756Ser	VAR_009807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009807	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	123	cd06946	NULL
367	113830	Disease	p.Asn756Ser	VAR_009807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009807	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	122	cd07068	NULL
367	113830	Disease	p.Asn756Ser	VAR_009807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009807	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	135	cd06953	NULL
367	113830	Disease	p.Asn756Ser	VAR_009807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009807	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	125	cd06945	NULL
367	113830	Disease	p.Asn756Ser	VAR_009807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009807	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	59	cd06157	NULL
367	113830	Disease	p.Asn756Ser	VAR_009807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009807	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	56	cd06930	NULL
367	113830	Disease	p.Asn756Ser	VAR_009807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009807	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	85	cd07075	NULL
367	113830	Disease	p.Asn756Ser	VAR_009807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009807	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	85	cd07074	NULL
367	113830	Disease	p.Asn756Ser	VAR_009807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009807	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	85	cd07076	NULL
367	113830	Disease	p.Asn756Ser	VAR_009807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009807	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	100	cd06943	NULL
367	113830	Disease	p.Asn756Ser	VAR_009807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009807	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	85	cd07073	NULL
367	113830	Disease	p.Asn756Ser	VAR_009807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009807	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	85	cd06947	NULL
367	113830	Disease	p.Asn756Ser	VAR_009807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009807	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	227	smart00430	NULL
367	113830	Disease	p.Asn756Ser	VAR_009807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009807	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	26	pfam00104	NULL
367	113830	Disease	p.Asn756Ser	VAR_009807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009807	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	92	cd06931	NULL
367	113830	Disease	p.Asn756Ser	VAR_009807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009807	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	98	cd06944	NULL
367	113830	Disease	p.Asn756Ser	VAR_009807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009807	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	93_G	cd06949	NULL
367	113830	Disease	p.Asn756Ser	VAR_009807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009807	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	59	cd06929	NULL
367	113830	Disease	p.Asn756Ser	VAR_009807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009807	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	98	cd07070	NULL
367	113830	Disease	p.Asn758Thr	VAR_009809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009809	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	125	cd06946	NULL
367	113830	Disease	p.Asn758Thr	VAR_009809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009809	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	124	cd07068	NULL
367	113830	Disease	p.Asn758Thr	VAR_009809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009809	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	137	cd06953	NULL
367	113830	Disease	p.Asn758Thr	VAR_009809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009809	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	127	cd06945	NULL
367	113830	Disease	p.Asn758Thr	VAR_009809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009809	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	61	cd06157	NULL
367	113830	Disease	p.Asn758Thr	VAR_009809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009809	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	58	cd06930	NULL
367	113830	Disease	p.Asn758Thr	VAR_009809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009809	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	87	cd07075	NULL
367	113830	Disease	p.Asn758Thr	VAR_009809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009809	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	87	cd07074	NULL
367	113830	Disease	p.Asn758Thr	VAR_009809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009809	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	87	cd07076	NULL
367	113830	Disease	p.Asn758Thr	VAR_009809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009809	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	120	cd06943	NULL
367	113830	Disease	p.Asn758Thr	VAR_009809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009809	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	87	cd07073	NULL
367	113830	Disease	p.Asn758Thr	VAR_009809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009809	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	87	cd06947	NULL
367	113830	Disease	p.Asn758Thr	VAR_009809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009809	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	244	smart00430	NULL
367	113830	Disease	p.Asn758Thr	VAR_009809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009809	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	28	pfam00104	NULL
367	113830	Disease	p.Asn758Thr	VAR_009809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009809	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	94	cd06931	NULL
367	113830	Disease	p.Asn758Thr	VAR_009809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009809	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	102	cd06944	NULL
367	113830	Disease	p.Asn758Thr	VAR_009809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009809	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	95	cd06949	NULL
367	113830	Disease	p.Asn758Thr	VAR_009809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009809	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	61	cd06929	NULL
367	113830	Disease	p.Asn758Thr	VAR_009809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009809	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	100	cd07070	NULL
367	113830	Disease	p.Ser759Phe	VAR_009810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009810	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	125_G	cd06946	NULL
367	113830	Disease	p.Ser759Phe	VAR_009810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009810	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	125	cd07068	NULL
367	113830	Disease	p.Ser759Phe	VAR_009810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009810	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	138	cd06953	NULL
367	113830	Disease	p.Ser759Phe	VAR_009810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009810	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	128	cd06945	NULL
367	113830	Disease	p.Ser759Phe	VAR_009810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009810	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd06157	NULL
367	113830	Disease	p.Ser759Phe	VAR_009810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009810	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	59	cd06930	NULL
367	113830	Disease	p.Ser759Phe	VAR_009810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009810	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	88	cd07075	NULL
367	113830	Disease	p.Ser759Phe	VAR_009810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009810	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	88	cd07074	NULL
367	113830	Disease	p.Ser759Phe	VAR_009810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009810	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	88	cd07076	NULL
367	113830	Disease	p.Ser759Phe	VAR_009810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009810	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	121	cd06943	NULL
367	113830	Disease	p.Ser759Phe	VAR_009810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009810	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	88	cd07073	NULL
367	113830	Disease	p.Ser759Phe	VAR_009810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009810	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	88	cd06947	NULL
367	113830	Disease	p.Ser759Phe	VAR_009810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009810	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	245	smart00430	NULL
367	113830	Disease	p.Ser759Phe	VAR_009810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009810	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	29	pfam00104	NULL
367	113830	Disease	p.Ser759Phe	VAR_009810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009810	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	94_G	cd06931	NULL
367	113830	Disease	p.Ser759Phe	VAR_009810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009810	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	103	cd06944	NULL
367	113830	Disease	p.Ser759Phe	VAR_009810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009810	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	96	cd06949	NULL
367	113830	Disease	p.Ser759Phe	VAR_009810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009810	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd06929	NULL
367	113830	Disease	p.Ser759Phe	VAR_009810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009810	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	101	cd07070	NULL
367	113830	Disease	p.Leu762Phe	VAR_004704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004704	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	127	cd06946	NULL
367	113830	Disease	p.Leu762Phe	VAR_004704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004704	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	128	cd07068	NULL
367	113830	Disease	p.Leu762Phe	VAR_004704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004704	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	141	cd06953	NULL
367	113830	Disease	p.Leu762Phe	VAR_004704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004704	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	131	cd06945	NULL
367	113830	Disease	p.Leu762Phe	VAR_004704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004704	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	cd06157	NULL
367	113830	Disease	p.Leu762Phe	VAR_004704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004704	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	62	cd06930	NULL
367	113830	Disease	p.Leu762Phe	VAR_004704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004704	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	91	cd07075	NULL
367	113830	Disease	p.Leu762Phe	VAR_004704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004704	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	91	cd07074	NULL
367	113830	Disease	p.Leu762Phe	VAR_004704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004704	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	91	cd07076	NULL
367	113830	Disease	p.Leu762Phe	VAR_004704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004704	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	124	cd06943	NULL
367	113830	Disease	p.Leu762Phe	VAR_004704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004704	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	91	cd07073	NULL
367	113830	Disease	p.Leu762Phe	VAR_004704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004704	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	91	cd06947	NULL
367	113830	Disease	p.Leu762Phe	VAR_004704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004704	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	280	smart00430	NULL
367	113830	Disease	p.Leu762Phe	VAR_004704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004704	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	33	pfam00104	NULL
367	113830	Disease	p.Leu762Phe	VAR_004704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004704	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	96	cd06931	NULL
367	113830	Disease	p.Leu762Phe	VAR_004704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004704	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	106	cd06944	NULL
367	113830	Disease	p.Leu762Phe	VAR_004704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004704	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	101	cd06949	NULL
367	113830	Disease	p.Leu762Phe	VAR_004704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004704	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	cd06929	NULL
367	113830	Disease	p.Leu762Phe	VAR_004704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004704	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	104	cd07070	NULL
367	113830	Disease	p.Tyr763Cys	VAR_004705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004705	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	128	cd06946	NULL
367	113830	Disease	p.Tyr763Cys	VAR_004705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004705	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	129	cd07068	NULL
367	113830	Disease	p.Tyr763Cys	VAR_004705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004705	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	142	cd06953	NULL
367	113830	Disease	p.Tyr763Cys	VAR_004705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004705	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	132	cd06945	NULL
367	113830	Disease	p.Tyr763Cys	VAR_004705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004705	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	66	cd06157	NULL
367	113830	Disease	p.Tyr763Cys	VAR_004705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004705	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	63	cd06930	NULL
367	113830	Disease	p.Tyr763Cys	VAR_004705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004705	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	92	cd07075	NULL
367	113830	Disease	p.Tyr763Cys	VAR_004705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004705	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	92	cd07074	NULL
367	113830	Disease	p.Tyr763Cys	VAR_004705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004705	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	92	cd07076	NULL
367	113830	Disease	p.Tyr763Cys	VAR_004705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004705	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	125	cd06943	NULL
367	113830	Disease	p.Tyr763Cys	VAR_004705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004705	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	92	cd07073	NULL
367	113830	Disease	p.Tyr763Cys	VAR_004705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004705	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	92	cd06947	NULL
367	113830	Disease	p.Tyr763Cys	VAR_004705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004705	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	283	smart00430	NULL
367	113830	Disease	p.Tyr763Cys	VAR_004705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004705	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	34	pfam00104	NULL
367	113830	Disease	p.Tyr763Cys	VAR_004705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004705	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	97	cd06931	NULL
367	113830	Disease	p.Tyr763Cys	VAR_004705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004705	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	107	cd06944	NULL
367	113830	Disease	p.Tyr763Cys	VAR_004705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004705	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	102	cd06949	NULL
367	113830	Disease	p.Tyr763Cys	VAR_004705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004705	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	66	cd06929	NULL
367	113830	Disease	p.Tyr763Cys	VAR_004705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004705	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	105	cd07070	NULL
367	113830	Disease	p.Tyr763His	VAR_009812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009812	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	128	cd06946	NULL
367	113830	Disease	p.Tyr763His	VAR_009812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009812	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	129	cd07068	NULL
367	113830	Disease	p.Tyr763His	VAR_009812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009812	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	142	cd06953	NULL
367	113830	Disease	p.Tyr763His	VAR_009812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009812	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	132	cd06945	NULL
367	113830	Disease	p.Tyr763His	VAR_009812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009812	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	66	cd06157	NULL
367	113830	Disease	p.Tyr763His	VAR_009812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009812	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	63	cd06930	NULL
367	113830	Disease	p.Tyr763His	VAR_009812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009812	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	92	cd07075	NULL
367	113830	Disease	p.Tyr763His	VAR_009812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009812	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	92	cd07074	NULL
367	113830	Disease	p.Tyr763His	VAR_009812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009812	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	92	cd07076	NULL
367	113830	Disease	p.Tyr763His	VAR_009812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009812	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	125	cd06943	NULL
367	113830	Disease	p.Tyr763His	VAR_009812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009812	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	92	cd07073	NULL
367	113830	Disease	p.Tyr763His	VAR_009812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009812	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	92	cd06947	NULL
367	113830	Disease	p.Tyr763His	VAR_009812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009812	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	283	smart00430	NULL
367	113830	Disease	p.Tyr763His	VAR_009812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009812	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	34	pfam00104	NULL
367	113830	Disease	p.Tyr763His	VAR_009812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009812	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	97	cd06931	NULL
367	113830	Disease	p.Tyr763His	VAR_009812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009812	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	107	cd06944	NULL
367	113830	Disease	p.Tyr763His	VAR_009812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009812	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	102	cd06949	NULL
367	113830	Disease	p.Tyr763His	VAR_009812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009812	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	66	cd06929	NULL
367	113830	Disease	p.Tyr763His	VAR_009812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009812	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	105	cd07070	NULL
367	113830	Disease	p.Phe764Leu	VAR_009813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009813	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	129	cd06946	NULL
367	113830	Disease	p.Phe764Leu	VAR_009813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009813	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	130	cd07068	NULL
367	113830	Disease	p.Phe764Leu	VAR_009813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009813	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	143	cd06953	NULL
367	113830	Disease	p.Phe764Leu	VAR_009813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009813	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	133	cd06945	NULL
367	113830	Disease	p.Phe764Leu	VAR_009813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009813	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	67	cd06157	NULL
367	113830	Disease	p.Phe764Leu	VAR_009813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009813	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	64	cd06930	NULL
367	113830	Disease	p.Phe764Leu	VAR_009813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009813	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	93	cd07075	NULL
367	113830	Disease	p.Phe764Leu	VAR_009813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009813	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	93	cd07074	NULL
367	113830	Disease	p.Phe764Leu	VAR_009813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009813	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	93	cd07076	NULL
367	113830	Disease	p.Phe764Leu	VAR_009813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009813	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	126	cd06943	NULL
367	113830	Disease	p.Phe764Leu	VAR_009813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009813	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	93	cd07073	NULL
367	113830	Disease	p.Phe764Leu	VAR_009813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009813	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	93	cd06947	NULL
367	113830	Disease	p.Phe764Leu	VAR_009813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009813	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	298	smart00430	NULL
367	113830	Disease	p.Phe764Leu	VAR_009813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009813	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	35	pfam00104	NULL
367	113830	Disease	p.Phe764Leu	VAR_009813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009813	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	98	cd06931	NULL
367	113830	Disease	p.Phe764Leu	VAR_009813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009813	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	108	cd06944	NULL
367	113830	Disease	p.Phe764Leu	VAR_009813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009813	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	103	cd06949	NULL
367	113830	Disease	p.Phe764Leu	VAR_009813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009813	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	67	cd06929	NULL
367	113830	Disease	p.Phe764Leu	VAR_009813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009813	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	106	cd07070	NULL
367	113830	Disease	p.Ala765Thr	VAR_004707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004707	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	130	cd06946	NULL
367	113830	Disease	p.Ala765Thr	VAR_004707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004707	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	131	cd07068	NULL
367	113830	Disease	p.Ala765Thr	VAR_004707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004707	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	144	cd06953	NULL
367	113830	Disease	p.Ala765Thr	VAR_004707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004707	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	134	cd06945	NULL
367	113830	Disease	p.Ala765Thr	VAR_004707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004707	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	68	cd06157	NULL
367	113830	Disease	p.Ala765Thr	VAR_004707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004707	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	cd06930	NULL
367	113830	Disease	p.Ala765Thr	VAR_004707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004707	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	94	cd07075	NULL
367	113830	Disease	p.Ala765Thr	VAR_004707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004707	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	94	cd07074	NULL
367	113830	Disease	p.Ala765Thr	VAR_004707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004707	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	94	cd07076	NULL
367	113830	Disease	p.Ala765Thr	VAR_004707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004707	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	127	cd06943	NULL
367	113830	Disease	p.Ala765Thr	VAR_004707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004707	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	94	cd07073	NULL
367	113830	Disease	p.Ala765Thr	VAR_004707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004707	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	94	cd06947	NULL
367	113830	Disease	p.Ala765Thr	VAR_004707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004707	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	310	smart00430	NULL
367	113830	Disease	p.Ala765Thr	VAR_004707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004707	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	38	pfam00104	NULL
367	113830	Disease	p.Ala765Thr	VAR_004707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004707	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	99	cd06931	NULL
367	113830	Disease	p.Ala765Thr	VAR_004707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004707	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	109	cd06944	NULL
367	113830	Disease	p.Ala765Thr	VAR_004707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004707	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	104	cd06949	NULL
367	113830	Disease	p.Ala765Thr	VAR_004707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004707	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	68	cd06929	NULL
367	113830	Disease	p.Ala765Thr	VAR_004707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004707	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	107	cd07070	NULL
367	113830	Disease	p.Ala765Val	VAR_009814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009814	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	130	cd06946	NULL
367	113830	Disease	p.Ala765Val	VAR_009814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009814	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	131	cd07068	NULL
367	113830	Disease	p.Ala765Val	VAR_009814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009814	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	144	cd06953	NULL
367	113830	Disease	p.Ala765Val	VAR_009814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009814	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	134	cd06945	NULL
367	113830	Disease	p.Ala765Val	VAR_009814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009814	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	68	cd06157	NULL
367	113830	Disease	p.Ala765Val	VAR_009814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009814	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	65	cd06930	NULL
367	113830	Disease	p.Ala765Val	VAR_009814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009814	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	94	cd07075	NULL
367	113830	Disease	p.Ala765Val	VAR_009814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009814	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	94	cd07074	NULL
367	113830	Disease	p.Ala765Val	VAR_009814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009814	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	94	cd07076	NULL
367	113830	Disease	p.Ala765Val	VAR_009814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009814	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	127	cd06943	NULL
367	113830	Disease	p.Ala765Val	VAR_009814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009814	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	94	cd07073	NULL
367	113830	Disease	p.Ala765Val	VAR_009814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009814	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	94	cd06947	NULL
367	113830	Disease	p.Ala765Val	VAR_009814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009814	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	310	smart00430	NULL
367	113830	Disease	p.Ala765Val	VAR_009814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009814	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	38	pfam00104	NULL
367	113830	Disease	p.Ala765Val	VAR_009814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009814	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	99	cd06931	NULL
367	113830	Disease	p.Ala765Val	VAR_009814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009814	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	109	cd06944	NULL
367	113830	Disease	p.Ala765Val	VAR_009814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009814	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	104	cd06949	NULL
367	113830	Disease	p.Ala765Val	VAR_009814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009814	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	68	cd06929	NULL
367	113830	Disease	p.Ala765Val	VAR_009814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009814	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	107	cd07070	NULL
367	113830	Disease	p.Pro766Ser	VAR_009815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009815	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	131	cd06946	NULL
367	113830	Disease	p.Pro766Ser	VAR_009815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009815	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	132	cd07068	NULL
367	113830	Disease	p.Pro766Ser	VAR_009815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009815	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	148	cd06953	NULL
367	113830	Disease	p.Pro766Ser	VAR_009815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009815	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	135	cd06945	NULL
367	113830	Disease	p.Pro766Ser	VAR_009815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009815	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	69	cd06157	NULL
367	113830	Disease	p.Pro766Ser	VAR_009815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009815	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	66	cd06930	NULL
367	113830	Disease	p.Pro766Ser	VAR_009815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009815	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	95	cd07075	NULL
367	113830	Disease	p.Pro766Ser	VAR_009815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009815	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	95	cd07074	NULL
367	113830	Disease	p.Pro766Ser	VAR_009815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009815	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	95	cd07076	NULL
367	113830	Disease	p.Pro766Ser	VAR_009815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009815	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	128	cd06943	NULL
367	113830	Disease	p.Pro766Ser	VAR_009815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009815	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	95	cd07073	NULL
367	113830	Disease	p.Pro766Ser	VAR_009815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009815	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	95	cd06947	NULL
367	113830	Disease	p.Pro766Ser	VAR_009815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009815	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	314	smart00430	NULL
367	113830	Disease	p.Pro766Ser	VAR_009815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009815	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	39	pfam00104	NULL
367	113830	Disease	p.Pro766Ser	VAR_009815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009815	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	100	cd06931	NULL
367	113830	Disease	p.Pro766Ser	VAR_009815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009815	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	110	cd06944	NULL
367	113830	Disease	p.Pro766Ser	VAR_009815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009815	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	105	cd06949	NULL
367	113830	Disease	p.Pro766Ser	VAR_009815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009815	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	69	cd06929	NULL
367	113830	Disease	p.Pro766Ser	VAR_009815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009815	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	108	cd07070	NULL
367	113830	Disease	p.Asp767Glu	VAR_009816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009816	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	132	cd06946	NULL
367	113830	Disease	p.Asp767Glu	VAR_009816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009816	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	133	cd07068	NULL
367	113830	Disease	p.Asp767Glu	VAR_009816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009816	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	149	cd06953	NULL
367	113830	Disease	p.Asp767Glu	VAR_009816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009816	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	136	cd06945	NULL
367	113830	Disease	p.Asp767Glu	VAR_009816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009816	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	70	cd06157	NULL
367	113830	Disease	p.Asp767Glu	VAR_009816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009816	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	68	cd06930	NULL
367	113830	Disease	p.Asp767Glu	VAR_009816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009816	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	96	cd07075	NULL
367	113830	Disease	p.Asp767Glu	VAR_009816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009816	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	96	cd07074	NULL
367	113830	Disease	p.Asp767Glu	VAR_009816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009816	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	96	cd07076	NULL
367	113830	Disease	p.Asp767Glu	VAR_009816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009816	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	129	cd06943	NULL
367	113830	Disease	p.Asp767Glu	VAR_009816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009816	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	96	cd07073	NULL
367	113830	Disease	p.Asp767Glu	VAR_009816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009816	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	96	cd06947	NULL
367	113830	Disease	p.Asp767Glu	VAR_009816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009816	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	315	smart00430	NULL
367	113830	Disease	p.Asp767Glu	VAR_009816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009816	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	40	pfam00104	NULL
367	113830	Disease	p.Asp767Glu	VAR_009816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009816	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	101	cd06931	NULL
367	113830	Disease	p.Asp767Glu	VAR_009816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009816	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	111	cd06944	NULL
367	113830	Disease	p.Asp767Glu	VAR_009816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009816	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	106	cd06949	NULL
367	113830	Disease	p.Asp767Glu	VAR_009816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009816	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	70	cd06929	NULL
367	113830	Disease	p.Asp767Glu	VAR_009816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009816	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	109	cd07070	NULL
367	113830	Disease	p.Leu768Pro	VAR_009817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009817	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	133	cd06946	NULL
367	113830	Disease	p.Leu768Pro	VAR_009817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009817	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	134	cd07068	NULL
367	113830	Disease	p.Leu768Pro	VAR_009817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009817	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	150	cd06953	NULL
367	113830	Disease	p.Leu768Pro	VAR_009817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009817	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	137	cd06945	NULL
367	113830	Disease	p.Leu768Pro	VAR_009817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009817	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	71	cd06157	NULL
367	113830	Disease	p.Leu768Pro	VAR_009817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009817	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	69	cd06930	NULL
367	113830	Disease	p.Leu768Pro	VAR_009817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009817	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	97	cd07075	NULL
367	113830	Disease	p.Leu768Pro	VAR_009817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009817	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	97	cd07074	NULL
367	113830	Disease	p.Leu768Pro	VAR_009817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009817	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	97	cd07076	NULL
367	113830	Disease	p.Leu768Pro	VAR_009817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009817	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	130	cd06943	NULL
367	113830	Disease	p.Leu768Pro	VAR_009817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009817	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	97	cd07073	NULL
367	113830	Disease	p.Leu768Pro	VAR_009817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009817	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	97	cd06947	NULL
367	113830	Disease	p.Leu768Pro	VAR_009817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009817	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	333	smart00430	NULL
367	113830	Disease	p.Leu768Pro	VAR_009817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009817	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	41	pfam00104	NULL
367	113830	Disease	p.Leu768Pro	VAR_009817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009817	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	102	cd06931	NULL
367	113830	Disease	p.Leu768Pro	VAR_009817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009817	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	112	cd06944	NULL
367	113830	Disease	p.Leu768Pro	VAR_009817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009817	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	107	cd06949	NULL
367	113830	Disease	p.Leu768Pro	VAR_009817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009817	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	71	cd06929	NULL
367	113830	Disease	p.Leu768Pro	VAR_009817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009817	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	110	cd07070	NULL
367	113830	Disease	p.Asn771His	VAR_009818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009818	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	136	cd06946	NULL
367	113830	Disease	p.Asn771His	VAR_009818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009818	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	137	cd07068	NULL
367	113830	Disease	p.Asn771His	VAR_009818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009818	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	153	cd06953	NULL
367	113830	Disease	p.Asn771His	VAR_009818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009818	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	140	cd06945	NULL
367	113830	Disease	p.Asn771His	VAR_009818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009818	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	98	cd06157	NULL
367	113830	Disease	p.Asn771His	VAR_009818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009818	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	72	cd06930	NULL
367	113830	Disease	p.Asn771His	VAR_009818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009818	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	100	cd07075	NULL
367	113830	Disease	p.Asn771His	VAR_009818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009818	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	100	cd07074	NULL
367	113830	Disease	p.Asn771His	VAR_009818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009818	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	100	cd07076	NULL
367	113830	Disease	p.Asn771His	VAR_009818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009818	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	135	cd06943	NULL
367	113830	Disease	p.Asn771His	VAR_009818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009818	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	100	cd07073	NULL
367	113830	Disease	p.Asn771His	VAR_009818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009818	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	100	cd06947	NULL
367	113830	Disease	p.Asn771His	VAR_009818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009818	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	376	smart00430	NULL
367	113830	Disease	p.Asn771His	VAR_009818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009818	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	97	pfam00104	NULL
367	113830	Disease	p.Asn771His	VAR_009818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009818	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	105	cd06931	NULL
367	113830	Disease	p.Asn771His	VAR_009818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009818	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	115	cd06944	NULL
367	113830	Disease	p.Asn771His	VAR_009818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009818	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	110	cd06949	NULL
367	113830	Disease	p.Asn771His	VAR_009818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009818	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	107	cd06929	NULL
367	113830	Disease	p.Asn771His	VAR_009818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009818	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	113	cd07070	NULL
367	113830	Disease	p.Glu772Ala	VAR_009819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009819	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	137	cd06946	NULL
367	113830	Disease	p.Glu772Ala	VAR_009819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009819	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	138	cd07068	NULL
367	113830	Disease	p.Glu772Ala	VAR_009819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009819	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	154	cd06953	NULL
367	113830	Disease	p.Glu772Ala	VAR_009819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009819	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	141	cd06945	NULL
367	113830	Disease	p.Glu772Ala	VAR_009819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009819	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	99	cd06157	NULL
367	113830	Disease	p.Glu772Ala	VAR_009819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009819	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	73	cd06930	NULL
367	113830	Disease	p.Glu772Ala	VAR_009819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009819	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	101	cd07075	NULL
367	113830	Disease	p.Glu772Ala	VAR_009819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009819	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	101	cd07074	NULL
367	113830	Disease	p.Glu772Ala	VAR_009819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009819	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	101	cd07076	NULL
367	113830	Disease	p.Glu772Ala	VAR_009819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009819	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	136	cd06943	NULL
367	113830	Disease	p.Glu772Ala	VAR_009819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009819	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	101	cd07073	NULL
367	113830	Disease	p.Glu772Ala	VAR_009819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009819	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	101	cd06947	NULL
367	113830	Disease	p.Glu772Ala	VAR_009819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009819	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	377	smart00430	NULL
367	113830	Disease	p.Glu772Ala	VAR_009819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009819	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	98	pfam00104	NULL
367	113830	Disease	p.Glu772Ala	VAR_009819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009819	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	106	cd06931	NULL
367	113830	Disease	p.Glu772Ala	VAR_009819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009819	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	116	cd06944	NULL
367	113830	Disease	p.Glu772Ala	VAR_009819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009819	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	111	cd06949	NULL
367	113830	Disease	p.Glu772Ala	VAR_009819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009819	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	108	cd06929	NULL
367	113830	Disease	p.Glu772Ala	VAR_009819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009819	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	114	cd07070	NULL
367	113830	Disease	p.Glu772Gly	VAR_009820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009820	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	137	cd06946	NULL
367	113830	Disease	p.Glu772Gly	VAR_009820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009820	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	138	cd07068	NULL
367	113830	Disease	p.Glu772Gly	VAR_009820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009820	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	154	cd06953	NULL
367	113830	Disease	p.Glu772Gly	VAR_009820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009820	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	141	cd06945	NULL
367	113830	Disease	p.Glu772Gly	VAR_009820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009820	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	99	cd06157	NULL
367	113830	Disease	p.Glu772Gly	VAR_009820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009820	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	73	cd06930	NULL
367	113830	Disease	p.Glu772Gly	VAR_009820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009820	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	101	cd07075	NULL
367	113830	Disease	p.Glu772Gly	VAR_009820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009820	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	101	cd07074	NULL
367	113830	Disease	p.Glu772Gly	VAR_009820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009820	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	101	cd07076	NULL
367	113830	Disease	p.Glu772Gly	VAR_009820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009820	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	136	cd06943	NULL
367	113830	Disease	p.Glu772Gly	VAR_009820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009820	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	101	cd07073	NULL
367	113830	Disease	p.Glu772Gly	VAR_009820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009820	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	101	cd06947	NULL
367	113830	Disease	p.Glu772Gly	VAR_009820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009820	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	377	smart00430	NULL
367	113830	Disease	p.Glu772Gly	VAR_009820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009820	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	98	pfam00104	NULL
367	113830	Disease	p.Glu772Gly	VAR_009820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009820	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	106	cd06931	NULL
367	113830	Disease	p.Glu772Gly	VAR_009820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009820	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	116	cd06944	NULL
367	113830	Disease	p.Glu772Gly	VAR_009820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009820	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	111	cd06949	NULL
367	113830	Disease	p.Glu772Gly	VAR_009820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009820	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	108	cd06929	NULL
367	113830	Disease	p.Glu772Gly	VAR_009820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009820	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	114	cd07070	NULL
367	113830	Disease	p.Arg774Cys	VAR_004709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004709	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	140	cd06946	NULL
367	113830	Disease	p.Arg774Cys	VAR_004709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004709	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	140	cd07068	NULL
367	113830	Disease	p.Arg774Cys	VAR_004709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004709	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	156	cd06953	NULL
367	113830	Disease	p.Arg774Cys	VAR_004709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004709	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	146	cd06945	NULL
367	113830	Disease	p.Arg774Cys	VAR_004709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004709	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	101	cd06157	NULL
367	113830	Disease	p.Arg774Cys	VAR_004709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004709	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	75	cd06930	NULL
367	113830	Disease	p.Arg774Cys	VAR_004709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004709	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	103	cd07075	NULL
367	113830	Disease	p.Arg774Cys	VAR_004709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004709	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	103	cd07074	NULL
367	113830	Disease	p.Arg774Cys	VAR_004709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004709	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	103	cd07076	NULL
367	113830	Disease	p.Arg774Cys	VAR_004709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004709	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	138	cd06943	NULL
367	113830	Disease	p.Arg774Cys	VAR_004709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004709	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	103	cd07073	NULL
367	113830	Disease	p.Arg774Cys	VAR_004709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004709	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	103	cd06947	NULL
367	113830	Disease	p.Arg774Cys	VAR_004709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004709	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	418	smart00430	NULL
367	113830	Disease	p.Arg774Cys	VAR_004709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004709	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	101	pfam00104	NULL
367	113830	Disease	p.Arg774Cys	VAR_004709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004709	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	108	cd06931	NULL
367	113830	Disease	p.Arg774Cys	VAR_004709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004709	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	118	cd06944	NULL
367	113830	Disease	p.Arg774Cys	VAR_004709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004709	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	113	cd06949	NULL
367	113830	Disease	p.Arg774Cys	VAR_004709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004709	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	110	cd06929	NULL
367	113830	Disease	p.Arg774Cys	VAR_004709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004709	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	116	cd07070	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	140	cd06946	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	140	cd07068	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	156	cd06953	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	146	cd06945	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	101	cd06157	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	75	cd06930	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	103	cd07075	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	103	cd07074	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	103	cd07076	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	138	cd06943	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	103	cd07073	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	103	cd06947	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	418	smart00430	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	101	pfam00104	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	108	cd06931	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	118	cd06944	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	113	cd06949	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	110	cd06929	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	116	cd07070	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	140	cd06946	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	140	cd07068	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	156	cd06953	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	146	cd06945	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	101	cd06157	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	75	cd06930	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	103	cd07075	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	103	cd07074	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	103	cd07076	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	138	cd06943	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	103	cd07073	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	103	cd06947	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	418	smart00430	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	101	pfam00104	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	108	cd06931	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	118	cd06944	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	113	cd06949	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	110	cd06929	NULL
367	113830	Disease	p.Arg774His	VAR_004708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004708	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	116	cd07070	NULL
367	113830	Disease	p.Arg779Trp	VAR_004710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004710	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	145	cd06946	NULL
367	113830	Disease	p.Arg779Trp	VAR_004710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004710	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	154	cd07068	NULL
367	113830	Disease	p.Arg779Trp	VAR_004710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004710	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	161	cd06953	NULL
367	113830	Disease	p.Arg779Trp	VAR_004710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004710	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	151	cd06945	NULL
367	113830	Disease	p.Arg779Trp	VAR_004710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004710	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	106	cd06157	NULL
367	113830	Disease	p.Arg779Trp	VAR_004710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004710	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	108	cd06930	NULL
367	113830	Disease	p.Arg779Trp	VAR_004710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004710	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	108	cd07075	NULL
367	113830	Disease	p.Arg779Trp	VAR_004710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004710	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	108	cd07074	NULL
367	113830	Disease	p.Arg779Trp	VAR_004710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004710	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	108	cd07076	NULL
367	113830	Disease	p.Arg779Trp	VAR_004710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004710	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	143	cd06943	NULL
367	113830	Disease	p.Arg779Trp	VAR_004710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004710	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	108	cd07073	NULL
367	113830	Disease	p.Arg779Trp	VAR_004710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004710	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	108	cd06947	NULL
367	113830	Disease	p.Arg779Trp	VAR_004710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004710	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	612	smart00430	NULL
367	113830	Disease	p.Arg779Trp	VAR_004710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004710	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	108	pfam00104	NULL
367	113830	Disease	p.Arg779Trp	VAR_004710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004710	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	118	cd06931	NULL
367	113830	Disease	p.Arg779Trp	VAR_004710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004710	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	125	cd06944	NULL
367	113830	Disease	p.Arg779Trp	VAR_004710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004710	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	127	cd06949	NULL
367	113830	Disease	p.Arg779Trp	VAR_004710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004710	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	115	cd06929	NULL
367	113830	Disease	p.Arg779Trp	VAR_004710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004710	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	122	cd07070	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	146	cd06946	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	155	cd07068	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	162	cd06953	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	152	cd06945	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	107	cd06157	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	109	cd06930	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	109	cd07075	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	109	cd07074	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	109	cd07076	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	144	cd06943	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	109	cd07073	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	109	cd06947	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	625	smart00430	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	109	pfam00104	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	119	cd06931	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	126	cd06944	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	128	cd06949	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	116	cd06929	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	123	cd07070	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	146	cd06946	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	155	cd07068	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	162	cd06953	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	152	cd06945	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	107	cd06157	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	109	cd06930	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	109	cd07075	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	109	cd07074	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	109	cd07076	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	144	cd06943	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	109	cd07073	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	109	cd06947	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	625	smart00430	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	109	pfam00104	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	119	cd06931	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	126	cd06944	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	128	cd06949	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	116	cd06929	NULL
367	113830	Disease	p.Met780Ile	VAR_004711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004711	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	123	cd07070	NULL
367	113830	Disease	p.Cys784Tyr	VAR_004712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004712	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	150	cd06946	NULL
367	113830	Disease	p.Cys784Tyr	VAR_004712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004712	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	159	cd07068	NULL
367	113830	Disease	p.Cys784Tyr	VAR_004712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004712	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	166	cd06953	NULL
367	113830	Disease	p.Cys784Tyr	VAR_004712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004712	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	156	cd06945	NULL
367	113830	Disease	p.Cys784Tyr	VAR_004712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004712	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	111	cd06157	NULL
367	113830	Disease	p.Cys784Tyr	VAR_004712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004712	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	113	cd06930	NULL
367	113830	Disease	p.Cys784Tyr	VAR_004712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004712	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	113	cd07075	NULL
367	113830	Disease	p.Cys784Tyr	VAR_004712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004712	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	113	cd07074	NULL
367	113830	Disease	p.Cys784Tyr	VAR_004712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004712	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	113	cd07076	NULL
367	113830	Disease	p.Cys784Tyr	VAR_004712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004712	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	148	cd06943	NULL
367	113830	Disease	p.Cys784Tyr	VAR_004712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004712	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	113	cd07073	NULL
367	113830	Disease	p.Cys784Tyr	VAR_004712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004712	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	113	cd06947	NULL
367	113830	Disease	p.Cys784Tyr	VAR_004712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004712	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	654	smart00430	NULL
367	113830	Disease	p.Cys784Tyr	VAR_004712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004712	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	138	pfam00104	NULL
367	113830	Disease	p.Cys784Tyr	VAR_004712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004712	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	123	cd06931	NULL
367	113830	Disease	p.Cys784Tyr	VAR_004712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004712	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	130	cd06944	NULL
367	113830	Disease	p.Cys784Tyr	VAR_004712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004712	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	132	cd06949	NULL
367	113830	Disease	p.Cys784Tyr	VAR_004712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004712	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	120	cd06929	NULL
367	113830	Disease	p.Cys784Tyr	VAR_004712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004712	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	127	cd07070	NULL
367	113830	Disease	p.Met787Val	VAR_004713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004713	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	153	cd06946	NULL
367	113830	Disease	p.Met787Val	VAR_004713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004713	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	162	cd07068	NULL
367	113830	Disease	p.Met787Val	VAR_004713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004713	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	171	cd06953	NULL
367	113830	Disease	p.Met787Val	VAR_004713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004713	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	159	cd06945	NULL
367	113830	Disease	p.Met787Val	VAR_004713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004713	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	114	cd06157	NULL
367	113830	Disease	p.Met787Val	VAR_004713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004713	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	116	cd06930	NULL
367	113830	Disease	p.Met787Val	VAR_004713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004713	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	116	cd07075	NULL
367	113830	Disease	p.Met787Val	VAR_004713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004713	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	116	cd07074	NULL
367	113830	Disease	p.Met787Val	VAR_004713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004713	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	116	cd07076	NULL
367	113830	Disease	p.Met787Val	VAR_004713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004713	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	157	cd06943	NULL
367	113830	Disease	p.Met787Val	VAR_004713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004713	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	116	cd07073	NULL
367	113830	Disease	p.Met787Val	VAR_004713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004713	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	116	cd06947	NULL
367	113830	Disease	p.Met787Val	VAR_004713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004713	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	659	smart00430	NULL
367	113830	Disease	p.Met787Val	VAR_004713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004713	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	141	pfam00104	NULL
367	113830	Disease	p.Met787Val	VAR_004713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004713	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	127	cd06931	NULL
367	113830	Disease	p.Met787Val	VAR_004713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004713	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	133	cd06944	NULL
367	113830	Disease	p.Met787Val	VAR_004713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004713	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	135	cd06949	NULL
367	113830	Disease	p.Met787Val	VAR_004713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004713	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	123	cd06929	NULL
367	113830	Disease	p.Met787Val	VAR_004713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004713	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	130	cd07070	NULL
367	113830	Disease	p.Arg788Ser	VAR_009822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009822	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	154	cd06946	NULL
367	113830	Disease	p.Arg788Ser	VAR_009822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009822	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	163	cd07068	NULL
367	113830	Disease	p.Arg788Ser	VAR_009822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009822	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	172	cd06953	NULL
367	113830	Disease	p.Arg788Ser	VAR_009822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009822	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	160	cd06945	NULL
367	113830	Disease	p.Arg788Ser	VAR_009822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009822	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	115	cd06157	NULL
367	113830	Disease	p.Arg788Ser	VAR_009822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009822	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	117	cd06930	NULL
367	113830	Disease	p.Arg788Ser	VAR_009822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009822	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	117	cd07075	NULL
367	113830	Disease	p.Arg788Ser	VAR_009822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009822	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	117	cd07074	NULL
367	113830	Disease	p.Arg788Ser	VAR_009822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009822	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	117	cd07076	NULL
367	113830	Disease	p.Arg788Ser	VAR_009822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009822	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	158	cd06943	NULL
367	113830	Disease	p.Arg788Ser	VAR_009822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009822	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	117	cd07073	NULL
367	113830	Disease	p.Arg788Ser	VAR_009822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009822	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	117	cd06947	NULL
367	113830	Disease	p.Arg788Ser	VAR_009822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009822	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	660	smart00430	NULL
367	113830	Disease	p.Arg788Ser	VAR_009822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009822	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	142	pfam00104	NULL
367	113830	Disease	p.Arg788Ser	VAR_009822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009822	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	128	cd06931	NULL
367	113830	Disease	p.Arg788Ser	VAR_009822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009822	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	134	cd06944	NULL
367	113830	Disease	p.Arg788Ser	VAR_009822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009822	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	136	cd06949	NULL
367	113830	Disease	p.Arg788Ser	VAR_009822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009822	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	124	cd06929	NULL
367	113830	Disease	p.Arg788Ser	VAR_009822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009822	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	131	cd07070	NULL
367	113830	Disease	p.Leu790Phe	VAR_009823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009823	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	156	cd06946	NULL
367	113830	Disease	p.Leu790Phe	VAR_009823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009823	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	165	cd07068	NULL
367	113830	Disease	p.Leu790Phe	VAR_009823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009823	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	174	cd06953	NULL
367	113830	Disease	p.Leu790Phe	VAR_009823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009823	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	162	cd06945	NULL
367	113830	Disease	p.Leu790Phe	VAR_009823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009823	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	117	cd06157	NULL
367	113830	Disease	p.Leu790Phe	VAR_009823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009823	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	119	cd06930	NULL
367	113830	Disease	p.Leu790Phe	VAR_009823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009823	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	119	cd07075	NULL
367	113830	Disease	p.Leu790Phe	VAR_009823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009823	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	119	cd07074	NULL
367	113830	Disease	p.Leu790Phe	VAR_009823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009823	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	119	cd07076	NULL
367	113830	Disease	p.Leu790Phe	VAR_009823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009823	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	160	cd06943	NULL
367	113830	Disease	p.Leu790Phe	VAR_009823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009823	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	119	cd07073	NULL
367	113830	Disease	p.Leu790Phe	VAR_009823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009823	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	119	cd06947	NULL
367	113830	Disease	p.Leu790Phe	VAR_009823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009823	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	679	smart00430	NULL
367	113830	Disease	p.Leu790Phe	VAR_009823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009823	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	144	pfam00104	NULL
367	113830	Disease	p.Leu790Phe	VAR_009823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009823	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	130	cd06931	NULL
367	113830	Disease	p.Leu790Phe	VAR_009823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009823	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	136	cd06944	NULL
367	113830	Disease	p.Leu790Phe	VAR_009823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009823	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	138	cd06949	NULL
367	113830	Disease	p.Leu790Phe	VAR_009823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009823	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	126	cd06929	NULL
367	113830	Disease	p.Leu790Phe	VAR_009823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009823	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	133	cd07070	NULL
367	113830	Disease	p.Phe794Ser	VAR_004714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004714	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	160	cd06946	NULL
367	113830	Disease	p.Phe794Ser	VAR_004714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004714	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	169	cd07068	NULL
367	113830	Disease	p.Phe794Ser	VAR_004714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004714	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	178	cd06953	NULL
367	113830	Disease	p.Phe794Ser	VAR_004714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004714	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	166	cd06945	NULL
367	113830	Disease	p.Phe794Ser	VAR_004714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004714	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	121	cd06157	NULL
367	113830	Disease	p.Phe794Ser	VAR_004714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004714	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	123	cd06930	NULL
367	113830	Disease	p.Phe794Ser	VAR_004714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004714	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	123	cd07075	NULL
367	113830	Disease	p.Phe794Ser	VAR_004714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004714	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	123	cd07074	NULL
367	113830	Disease	p.Phe794Ser	VAR_004714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004714	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	123	cd07076	NULL
367	113830	Disease	p.Phe794Ser	VAR_004714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004714	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	164	cd06943	NULL
367	113830	Disease	p.Phe794Ser	VAR_004714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004714	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	123	cd07073	NULL
367	113830	Disease	p.Phe794Ser	VAR_004714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004714	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	123	cd06947	NULL
367	113830	Disease	p.Phe794Ser	VAR_004714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004714	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	684	smart00430	NULL
367	113830	Disease	p.Phe794Ser	VAR_004714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004714	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	152	pfam00104	NULL
367	113830	Disease	p.Phe794Ser	VAR_004714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004714	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	134	cd06931	NULL
367	113830	Disease	p.Phe794Ser	VAR_004714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004714	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	140	cd06944	NULL
367	113830	Disease	p.Phe794Ser	VAR_004714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004714	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	142	cd06949	NULL
367	113830	Disease	p.Phe794Ser	VAR_004714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004714	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	130	cd06929	NULL
367	113830	Disease	p.Phe794Ser	VAR_004714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004714	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	137	cd07070	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	164	cd06946	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	173	cd07068	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	182	cd06953	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	170	cd06945	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	125	cd06157	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	128	cd06930	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	127	cd07075	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	127	cd07074	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	127	cd07076	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	168	cd06943	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	127	cd07073	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	127	cd06947	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	697	smart00430	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	157	pfam00104	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	138	cd06931	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	144	cd06944	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	146	cd06949	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	135	cd06929	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	141	cd07070	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	164	cd06946	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	173	cd07068	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	182	cd06953	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	170	cd06945	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	125	cd06157	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	128	cd06930	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	127	cd07075	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	127	cd07074	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	127	cd07076	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	168	cd06943	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	127	cd07073	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	127	cd06947	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	697	smart00430	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	157	pfam00104	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	138	cd06931	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	144	cd06944	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	146	cd06949	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	135	cd06929	NULL
367	113830	Disease	p.Gln798Glu	VAR_004715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004715	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	141	cd07070	NULL
367	113830	Disease	p.Cys806Tyr	VAR_009826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009826	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	172	cd06946	NULL
367	113830	Disease	p.Cys806Tyr	VAR_009826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009826	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	181	cd07068	NULL
367	113830	Disease	p.Cys806Tyr	VAR_009826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009826	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	190	cd06953	NULL
367	113830	Disease	p.Cys806Tyr	VAR_009826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009826	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	178	cd06945	NULL
367	113830	Disease	p.Cys806Tyr	VAR_009826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009826	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	133	cd06157	NULL
367	113830	Disease	p.Cys806Tyr	VAR_009826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009826	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	136	cd06930	NULL
367	113830	Disease	p.Cys806Tyr	VAR_009826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009826	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	135	cd07075	NULL
367	113830	Disease	p.Cys806Tyr	VAR_009826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009826	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	135	cd07074	NULL
367	113830	Disease	p.Cys806Tyr	VAR_009826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009826	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	135	cd07076	NULL
367	113830	Disease	p.Cys806Tyr	VAR_009826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009826	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	176	cd06943	NULL
367	113830	Disease	p.Cys806Tyr	VAR_009826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009826	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	135	cd07073	NULL
367	113830	Disease	p.Cys806Tyr	VAR_009826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009826	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	135	cd06947	NULL
367	113830	Disease	p.Cys806Tyr	VAR_009826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009826	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	705	smart00430	NULL
367	113830	Disease	p.Cys806Tyr	VAR_009826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009826	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	166	pfam00104	NULL
367	113830	Disease	p.Cys806Tyr	VAR_009826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009826	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	146	cd06931	NULL
367	113830	Disease	p.Cys806Tyr	VAR_009826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009826	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	152	cd06944	NULL
367	113830	Disease	p.Cys806Tyr	VAR_009826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009826	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	154	cd06949	NULL
367	113830	Disease	p.Cys806Tyr	VAR_009826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009826	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	145	cd06929	NULL
367	113830	Disease	p.Cys806Tyr	VAR_009826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009826	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	149	cd07070	NULL
367	113830	Disease	p.Met807Arg	VAR_004716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004716	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	173	cd06946	NULL
367	113830	Disease	p.Met807Arg	VAR_004716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004716	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	182	cd07068	NULL
367	113830	Disease	p.Met807Arg	VAR_004716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004716	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	191	cd06953	NULL
367	113830	Disease	p.Met807Arg	VAR_004716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004716	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	179	cd06945	NULL
367	113830	Disease	p.Met807Arg	VAR_004716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004716	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	134	cd06157	NULL
367	113830	Disease	p.Met807Arg	VAR_004716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004716	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	137	cd06930	NULL
367	113830	Disease	p.Met807Arg	VAR_004716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004716	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	136	cd07075	NULL
367	113830	Disease	p.Met807Arg	VAR_004716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004716	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	136	cd07074	NULL
367	113830	Disease	p.Met807Arg	VAR_004716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004716	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	136	cd07076	NULL
367	113830	Disease	p.Met807Arg	VAR_004716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004716	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	177	cd06943	NULL
367	113830	Disease	p.Met807Arg	VAR_004716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004716	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	136	cd07073	NULL
367	113830	Disease	p.Met807Arg	VAR_004716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004716	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	136	cd06947	NULL
367	113830	Disease	p.Met807Arg	VAR_004716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004716	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	706	smart00430	NULL
367	113830	Disease	p.Met807Arg	VAR_004716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004716	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	167	pfam00104	NULL
367	113830	Disease	p.Met807Arg	VAR_004716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004716	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	147	cd06931	NULL
367	113830	Disease	p.Met807Arg	VAR_004716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004716	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	153	cd06944	NULL
367	113830	Disease	p.Met807Arg	VAR_004716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004716	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	155	cd06949	NULL
367	113830	Disease	p.Met807Arg	VAR_004716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004716	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	146	cd06929	NULL
367	113830	Disease	p.Met807Arg	VAR_004716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004716	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	150	cd07070	NULL
367	113830	Disease	p.Met807Thr	VAR_009827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009827	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	173	cd06946	NULL
367	113830	Disease	p.Met807Thr	VAR_009827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009827	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	182	cd07068	NULL
367	113830	Disease	p.Met807Thr	VAR_009827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009827	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	191	cd06953	NULL
367	113830	Disease	p.Met807Thr	VAR_009827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009827	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	179	cd06945	NULL
367	113830	Disease	p.Met807Thr	VAR_009827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009827	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	134	cd06157	NULL
367	113830	Disease	p.Met807Thr	VAR_009827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009827	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	137	cd06930	NULL
367	113830	Disease	p.Met807Thr	VAR_009827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009827	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	136	cd07075	NULL
367	113830	Disease	p.Met807Thr	VAR_009827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009827	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	136	cd07074	NULL
367	113830	Disease	p.Met807Thr	VAR_009827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009827	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	136	cd07076	NULL
367	113830	Disease	p.Met807Thr	VAR_009827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009827	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	177	cd06943	NULL
367	113830	Disease	p.Met807Thr	VAR_009827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009827	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	136	cd07073	NULL
367	113830	Disease	p.Met807Thr	VAR_009827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009827	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	136	cd06947	NULL
367	113830	Disease	p.Met807Thr	VAR_009827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009827	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	706	smart00430	NULL
367	113830	Disease	p.Met807Thr	VAR_009827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009827	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	167	pfam00104	NULL
367	113830	Disease	p.Met807Thr	VAR_009827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009827	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	147	cd06931	NULL
367	113830	Disease	p.Met807Thr	VAR_009827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009827	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	153	cd06944	NULL
367	113830	Disease	p.Met807Thr	VAR_009827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009827	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	155	cd06949	NULL
367	113830	Disease	p.Met807Thr	VAR_009827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009827	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	146	cd06929	NULL
367	113830	Disease	p.Met807Thr	VAR_009827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009827	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	150	cd07070	NULL
367	113830	Disease	p.Met807Val	VAR_004717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004717	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	173	cd06946	NULL
367	113830	Disease	p.Met807Val	VAR_004717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004717	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	182	cd07068	NULL
367	113830	Disease	p.Met807Val	VAR_004717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004717	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	191	cd06953	NULL
367	113830	Disease	p.Met807Val	VAR_004717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004717	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	179	cd06945	NULL
367	113830	Disease	p.Met807Val	VAR_004717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004717	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	134	cd06157	NULL
367	113830	Disease	p.Met807Val	VAR_004717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004717	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	137	cd06930	NULL
367	113830	Disease	p.Met807Val	VAR_004717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004717	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	136	cd07075	NULL
367	113830	Disease	p.Met807Val	VAR_004717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004717	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	136	cd07074	NULL
367	113830	Disease	p.Met807Val	VAR_004717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004717	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	136	cd07076	NULL
367	113830	Disease	p.Met807Val	VAR_004717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004717	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	177	cd06943	NULL
367	113830	Disease	p.Met807Val	VAR_004717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004717	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	136	cd07073	NULL
367	113830	Disease	p.Met807Val	VAR_004717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004717	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	136	cd06947	NULL
367	113830	Disease	p.Met807Val	VAR_004717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004717	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	706	smart00430	NULL
367	113830	Disease	p.Met807Val	VAR_004717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004717	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	167	pfam00104	NULL
367	113830	Disease	p.Met807Val	VAR_004717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004717	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	147	cd06931	NULL
367	113830	Disease	p.Met807Val	VAR_004717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004717	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	153	cd06944	NULL
367	113830	Disease	p.Met807Val	VAR_004717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004717	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	155	cd06949	NULL
367	113830	Disease	p.Met807Val	VAR_004717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004717	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	146	cd06929	NULL
367	113830	Disease	p.Met807Val	VAR_004717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004717	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	150	cd07070	NULL
367	113830	Disease	p.Leu812Phe	VAR_009828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009828	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	178	cd06946	NULL
367	113830	Disease	p.Leu812Phe	VAR_009828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009828	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	187	cd07068	NULL
367	113830	Disease	p.Leu812Phe	VAR_009828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009828	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	196	cd06953	NULL
367	113830	Disease	p.Leu812Phe	VAR_009828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009828	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	184	cd06945	NULL
367	113830	Disease	p.Leu812Phe	VAR_009828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009828	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	139	cd06157	NULL
367	113830	Disease	p.Leu812Phe	VAR_009828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009828	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	142	cd06930	NULL
367	113830	Disease	p.Leu812Phe	VAR_009828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009828	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	141	cd07075	NULL
367	113830	Disease	p.Leu812Phe	VAR_009828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009828	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	141	cd07074	NULL
367	113830	Disease	p.Leu812Phe	VAR_009828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009828	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	141	cd07076	NULL
367	113830	Disease	p.Leu812Phe	VAR_009828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009828	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	182	cd06943	NULL
367	113830	Disease	p.Leu812Phe	VAR_009828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009828	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	141	cd07073	NULL
367	113830	Disease	p.Leu812Phe	VAR_009828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009828	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	141	cd06947	NULL
367	113830	Disease	p.Leu812Phe	VAR_009828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009828	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	711	smart00430	NULL
367	113830	Disease	p.Leu812Phe	VAR_009828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009828	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	172	pfam00104	NULL
367	113830	Disease	p.Leu812Phe	VAR_009828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009828	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	152	cd06931	NULL
367	113830	Disease	p.Leu812Phe	VAR_009828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009828	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	158	cd06944	NULL
367	113830	Disease	p.Leu812Phe	VAR_009828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009828	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	160	cd06949	NULL
367	113830	Disease	p.Leu812Phe	VAR_009828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009828	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	151	cd06929	NULL
367	113830	Disease	p.Leu812Phe	VAR_009828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009828	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	155	cd07070	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	180	cd06946	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	191	cd07068	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	198	cd06953	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	186	cd06945	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	141	cd06157	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	144	cd06930	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	143	cd07075	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	143	cd07074	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	143	cd07076	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	184	cd06943	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	143	cd07073	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	143	cd06947	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	729	smart00430	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	174	pfam00104	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	154	cd06931	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	160	cd06944	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	164	cd06949	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	153	cd06929	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	157	cd07070	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	180	cd06946	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	191	cd07068	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	198	cd06953	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	186	cd06945	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	141	cd06157	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	144	cd06930	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	143	cd07075	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	143	cd07074	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	143	cd07076	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	184	cd06943	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	143	cd07073	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	143	cd06947	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	729	smart00430	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	174	pfam00104	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	154	cd06931	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	160	cd06944	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	164	cd06949	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	153	cd06929	NULL
367	113830	Disease	p.Ser814Asn	VAR_004718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004718	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	157	cd07070	NULL
367	113830	Disease	p.Gly820Ala	VAR_009829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009829	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	183	cd06946	NULL
367	113830	Disease	p.Gly820Ala	VAR_009829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009829	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	206	cd07068	NULL
367	113830	Disease	p.Gly820Ala	VAR_009829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009829	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	206	cd06953	NULL
367	113830	Disease	p.Gly820Ala	VAR_009829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009829	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	190	cd06945	NULL
367	113830	Disease	p.Gly820Ala	VAR_009829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009829	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	155	cd06157	NULL
367	113830	Disease	p.Gly820Ala	VAR_009829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009829	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	178	cd06930	NULL
367	113830	Disease	p.Gly820Ala	VAR_009829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009829	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	149	cd07075	NULL
367	113830	Disease	p.Gly820Ala	VAR_009829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009829	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	149	cd07074	NULL
367	113830	Disease	p.Gly820Ala	VAR_009829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009829	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	149	cd07076	NULL
367	113830	Disease	p.Gly820Ala	VAR_009829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009829	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	189	cd06943	NULL
367	113830	Disease	p.Gly820Ala	VAR_009829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009829	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	149	cd07073	NULL
367	113830	Disease	p.Gly820Ala	VAR_009829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009829	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	149	cd06947	NULL
367	113830	Disease	p.Gly820Ala	VAR_009829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009829	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	764	smart00430	NULL
367	113830	Disease	p.Gly820Ala	VAR_009829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009829	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	204	pfam00104	NULL
367	113830	Disease	p.Gly820Ala	VAR_009829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009829	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	159	cd06931	NULL
367	113830	Disease	p.Gly820Ala	VAR_009829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009829	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	169	cd06944	NULL
367	113830	Disease	p.Gly820Ala	VAR_009829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009829	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	172	cd06949	NULL
367	113830	Disease	p.Gly820Ala	VAR_009829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009829	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	161	cd06929	NULL
367	113830	Disease	p.Gly820Ala	VAR_009829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009829	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	162	cd07070	NULL
367	113830	Disease	p.Leu821Val	VAR_009830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009830	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	184	cd06946	NULL
367	113830	Disease	p.Leu821Val	VAR_009830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009830	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	207	cd07068	NULL
367	113830	Disease	p.Leu821Val	VAR_009830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009830	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	207	cd06953	NULL
367	113830	Disease	p.Leu821Val	VAR_009830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009830	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	191	cd06945	NULL
367	113830	Disease	p.Leu821Val	VAR_009830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009830	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	156	cd06157	NULL
367	113830	Disease	p.Leu821Val	VAR_009830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009830	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	179	cd06930	NULL
367	113830	Disease	p.Leu821Val	VAR_009830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009830	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	150	cd07075	NULL
367	113830	Disease	p.Leu821Val	VAR_009830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009830	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	150	cd07074	NULL
367	113830	Disease	p.Leu821Val	VAR_009830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009830	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	150	cd07076	NULL
367	113830	Disease	p.Leu821Val	VAR_009830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009830	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	190	cd06943	NULL
367	113830	Disease	p.Leu821Val	VAR_009830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009830	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	150	cd07073	NULL
367	113830	Disease	p.Leu821Val	VAR_009830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009830	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	150	cd06947	NULL
367	113830	Disease	p.Leu821Val	VAR_009830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009830	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	765	smart00430	NULL
367	113830	Disease	p.Leu821Val	VAR_009830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009830	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	234	pfam00104	NULL
367	113830	Disease	p.Leu821Val	VAR_009830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009830	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	160	cd06931	NULL
367	113830	Disease	p.Leu821Val	VAR_009830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009830	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	170	cd06944	NULL
367	113830	Disease	p.Leu821Val	VAR_009830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009830	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	173	cd06949	NULL
367	113830	Disease	p.Leu821Val	VAR_009830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009830	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	162	cd06929	NULL
367	113830	Disease	p.Leu821Val	VAR_009830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009830	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	163	cd07070	NULL
367	113830	Disease	p.Phe827Val	VAR_013478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013478	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	192	cd06946	NULL
367	113830	Disease	p.Phe827Val	VAR_013478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013478	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	213	cd07068	NULL
367	113830	Disease	p.Phe827Val	VAR_013478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013478	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	213	cd06953	NULL
367	113830	Disease	p.Phe827Val	VAR_013478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013478	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	197	cd06945	NULL
367	113830	Disease	p.Phe827Val	VAR_013478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013478	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	162	cd06157	NULL
367	113830	Disease	p.Phe827Val	VAR_013478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013478	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	185	cd06930	NULL
367	113830	Disease	p.Phe827Val	VAR_013478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013478	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	181	cd07075	NULL
367	113830	Disease	p.Phe827Val	VAR_013478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013478	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	156	cd07074	NULL
367	113830	Disease	p.Phe827Val	VAR_013478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013478	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	156	cd07076	NULL
367	113830	Disease	p.Phe827Val	VAR_013478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013478	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	196	cd06943	NULL
367	113830	Disease	p.Phe827Val	VAR_013478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013478	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	156	cd07073	NULL
367	113830	Disease	p.Phe827Val	VAR_013478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013478	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	181	cd06947	NULL
367	113830	Disease	p.Phe827Val	VAR_013478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013478	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	785	smart00430	NULL
367	113830	Disease	p.Phe827Val	VAR_013478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013478	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	248	pfam00104	NULL
367	113830	Disease	p.Phe827Val	VAR_013478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013478	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	168	cd06931	NULL
367	113830	Disease	p.Phe827Val	VAR_013478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013478	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	176	cd06944	NULL
367	113830	Disease	p.Phe827Val	VAR_013478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013478	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	179	cd06949	NULL
367	113830	Disease	p.Phe827Val	VAR_013478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013478	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	168	cd06929	NULL
367	113830	Disease	p.Phe827Val	VAR_013478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013478	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	169	cd07070	NULL
367	113830	Disease	p.Arg831Leu	VAR_004719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004719	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	196	cd06946	NULL
367	113830	Disease	p.Arg831Leu	VAR_004719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004719	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	216_G	cd07068	NULL
367	113830	Disease	p.Arg831Leu	VAR_004719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004719	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	217	cd06953	NULL
367	113830	Disease	p.Arg831Leu	VAR_004719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004719	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	201	cd06945	NULL
367	113830	Disease	p.Arg831Leu	VAR_004719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004719	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	166	cd06157	NULL
367	113830	Disease	p.Arg831Leu	VAR_004719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004719	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	189	cd06930	NULL
367	113830	Disease	p.Arg831Leu	VAR_004719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004719	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	185	cd07075	NULL
367	113830	Disease	p.Arg831Leu	VAR_004719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004719	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	160	cd07074	NULL
367	113830	Disease	p.Arg831Leu	VAR_004719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004719	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	160	cd07076	NULL
367	113830	Disease	p.Arg831Leu	VAR_004719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004719	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	200	cd06943	NULL
367	113830	Disease	p.Arg831Leu	VAR_004719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004719	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	160	cd07073	NULL
367	113830	Disease	p.Arg831Leu	VAR_004719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004719	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	185	cd06947	NULL
367	113830	Disease	p.Arg831Leu	VAR_004719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004719	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	795	smart00430	NULL
367	113830	Disease	p.Arg831Leu	VAR_004719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004719	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	252	pfam00104	NULL
367	113830	Disease	p.Arg831Leu	VAR_004719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004719	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	172	cd06931	NULL
367	113830	Disease	p.Arg831Leu	VAR_004719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004719	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	180	cd06944	NULL
367	113830	Disease	p.Arg831Leu	VAR_004719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004719	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	183	cd06949	NULL
367	113830	Disease	p.Arg831Leu	VAR_004719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004719	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	172	cd06929	NULL
367	113830	Disease	p.Arg831Leu	VAR_004719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004719	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	173	cd07070	NULL
367	113830	Disease	p.Arg831Gln	VAR_004720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004720	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	196	cd06946	NULL
367	113830	Disease	p.Arg831Gln	VAR_004720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004720	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	216_G	cd07068	NULL
367	113830	Disease	p.Arg831Gln	VAR_004720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004720	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	217	cd06953	NULL
367	113830	Disease	p.Arg831Gln	VAR_004720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004720	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	201	cd06945	NULL
367	113830	Disease	p.Arg831Gln	VAR_004720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004720	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	166	cd06157	NULL
367	113830	Disease	p.Arg831Gln	VAR_004720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004720	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	189	cd06930	NULL
367	113830	Disease	p.Arg831Gln	VAR_004720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004720	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	185	cd07075	NULL
367	113830	Disease	p.Arg831Gln	VAR_004720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004720	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	160	cd07074	NULL
367	113830	Disease	p.Arg831Gln	VAR_004720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004720	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	160	cd07076	NULL
367	113830	Disease	p.Arg831Gln	VAR_004720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004720	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	200	cd06943	NULL
367	113830	Disease	p.Arg831Gln	VAR_004720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004720	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	160	cd07073	NULL
367	113830	Disease	p.Arg831Gln	VAR_004720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004720	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	185	cd06947	NULL
367	113830	Disease	p.Arg831Gln	VAR_004720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004720	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	795	smart00430	NULL
367	113830	Disease	p.Arg831Gln	VAR_004720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004720	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	252	pfam00104	NULL
367	113830	Disease	p.Arg831Gln	VAR_004720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004720	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	172	cd06931	NULL
367	113830	Disease	p.Arg831Gln	VAR_004720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004720	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	180	cd06944	NULL
367	113830	Disease	p.Arg831Gln	VAR_004720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004720	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	183	cd06949	NULL
367	113830	Disease	p.Arg831Gln	VAR_004720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004720	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	172	cd06929	NULL
367	113830	Disease	p.Arg831Gln	VAR_004720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004720	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	173	cd07070	NULL
367	113830	Disease	p.Tyr834Cys	VAR_009832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009832	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	199	cd06946	NULL
367	113830	Disease	p.Tyr834Cys	VAR_009832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009832	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	216_G	cd07068	NULL
367	113830	Disease	p.Tyr834Cys	VAR_009832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009832	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	220	cd06953	NULL
367	113830	Disease	p.Tyr834Cys	VAR_009832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009832	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	204	cd06945	NULL
367	113830	Disease	p.Tyr834Cys	VAR_009832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009832	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	169	cd06157	NULL
367	113830	Disease	p.Tyr834Cys	VAR_009832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009832	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	192	cd06930	NULL
367	113830	Disease	p.Tyr834Cys	VAR_009832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009832	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	188	cd07075	NULL
367	113830	Disease	p.Tyr834Cys	VAR_009832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009832	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	163	cd07074	NULL
367	113830	Disease	p.Tyr834Cys	VAR_009832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009832	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	163	cd07076	NULL
367	113830	Disease	p.Tyr834Cys	VAR_009832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009832	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	203	cd06943	NULL
367	113830	Disease	p.Tyr834Cys	VAR_009832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009832	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	163	cd07073	NULL
367	113830	Disease	p.Tyr834Cys	VAR_009832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009832	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	188	cd06947	NULL
367	113830	Disease	p.Tyr834Cys	VAR_009832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009832	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	799	smart00430	NULL
367	113830	Disease	p.Tyr834Cys	VAR_009832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009832	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	255	pfam00104	NULL
367	113830	Disease	p.Tyr834Cys	VAR_009832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009832	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	175	cd06931	NULL
367	113830	Disease	p.Tyr834Cys	VAR_009832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009832	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	182_G	cd06944	NULL
367	113830	Disease	p.Tyr834Cys	VAR_009832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009832	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	186	cd06949	NULL
367	113830	Disease	p.Tyr834Cys	VAR_009832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009832	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	175	cd06929	NULL
367	113830	Disease	p.Tyr834Cys	VAR_009832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009832	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	176	cd07070	NULL
367	113830	Disease	p.Arg840Cys	VAR_004721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004721	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	205	cd06946	NULL
367	113830	Disease	p.Arg840Cys	VAR_004721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004721	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	219	cd07068	NULL
367	113830	Disease	p.Arg840Cys	VAR_004721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004721	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	226	cd06953	NULL
367	113830	Disease	p.Arg840Cys	VAR_004721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004721	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	210	cd06945	NULL
367	113830	Disease	p.Arg840Cys	VAR_004721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004721	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	175	cd06157	NULL
367	113830	Disease	p.Arg840Cys	VAR_004721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004721	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	198	cd06930	NULL
367	113830	Disease	p.Arg840Cys	VAR_004721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004721	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	194	cd07075	NULL
367	113830	Disease	p.Arg840Cys	VAR_004721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004721	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	169	cd07074	NULL
367	113830	Disease	p.Arg840Cys	VAR_004721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004721	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	169	cd07076	NULL
367	113830	Disease	p.Arg840Cys	VAR_004721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004721	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	209	cd06943	NULL
367	113830	Disease	p.Arg840Cys	VAR_004721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004721	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	169	cd07073	NULL
367	113830	Disease	p.Arg840Cys	VAR_004721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004721	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	194	cd06947	NULL
367	113830	Disease	p.Arg840Cys	VAR_004721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004721	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	805	smart00430	NULL
367	113830	Disease	p.Arg840Cys	VAR_004721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004721	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	261	pfam00104	NULL
367	113830	Disease	p.Arg840Cys	VAR_004721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004721	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	181	cd06931	NULL
367	113830	Disease	p.Arg840Cys	VAR_004721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004721	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	188	cd06944	NULL
367	113830	Disease	p.Arg840Cys	VAR_004721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004721	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	192	cd06949	NULL
367	113830	Disease	p.Arg840Cys	VAR_004721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004721	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	181	cd06929	NULL
367	113830	Disease	p.Arg840Cys	VAR_004721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004721	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	182	cd07070	NULL
367	113830	Disease	p.Arg840Gly	VAR_004722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004722	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	205	cd06946	NULL
367	113830	Disease	p.Arg840Gly	VAR_004722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004722	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	219	cd07068	NULL
367	113830	Disease	p.Arg840Gly	VAR_004722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004722	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	226	cd06953	NULL
367	113830	Disease	p.Arg840Gly	VAR_004722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004722	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	210	cd06945	NULL
367	113830	Disease	p.Arg840Gly	VAR_004722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004722	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	175	cd06157	NULL
367	113830	Disease	p.Arg840Gly	VAR_004722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004722	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	198	cd06930	NULL
367	113830	Disease	p.Arg840Gly	VAR_004722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004722	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	194	cd07075	NULL
367	113830	Disease	p.Arg840Gly	VAR_004722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004722	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	169	cd07074	NULL
367	113830	Disease	p.Arg840Gly	VAR_004722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004722	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	169	cd07076	NULL
367	113830	Disease	p.Arg840Gly	VAR_004722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004722	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	209	cd06943	NULL
367	113830	Disease	p.Arg840Gly	VAR_004722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004722	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	169	cd07073	NULL
367	113830	Disease	p.Arg840Gly	VAR_004722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004722	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	194	cd06947	NULL
367	113830	Disease	p.Arg840Gly	VAR_004722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004722	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	805	smart00430	NULL
367	113830	Disease	p.Arg840Gly	VAR_004722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004722	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	261	pfam00104	NULL
367	113830	Disease	p.Arg840Gly	VAR_004722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004722	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	181	cd06931	NULL
367	113830	Disease	p.Arg840Gly	VAR_004722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004722	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	188	cd06944	NULL
367	113830	Disease	p.Arg840Gly	VAR_004722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004722	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	192	cd06949	NULL
367	113830	Disease	p.Arg840Gly	VAR_004722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004722	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	181	cd06929	NULL
367	113830	Disease	p.Arg840Gly	VAR_004722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004722	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	182	cd07070	NULL
367	113830	Disease	p.Arg840His	VAR_004723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	205	cd06946	NULL
367	113830	Disease	p.Arg840His	VAR_004723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	219	cd07068	NULL
367	113830	Disease	p.Arg840His	VAR_004723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	226	cd06953	NULL
367	113830	Disease	p.Arg840His	VAR_004723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	210	cd06945	NULL
367	113830	Disease	p.Arg840His	VAR_004723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	175	cd06157	NULL
367	113830	Disease	p.Arg840His	VAR_004723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	198	cd06930	NULL
367	113830	Disease	p.Arg840His	VAR_004723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	194	cd07075	NULL
367	113830	Disease	p.Arg840His	VAR_004723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	169	cd07074	NULL
367	113830	Disease	p.Arg840His	VAR_004723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	169	cd07076	NULL
367	113830	Disease	p.Arg840His	VAR_004723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	209	cd06943	NULL
367	113830	Disease	p.Arg840His	VAR_004723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	169	cd07073	NULL
367	113830	Disease	p.Arg840His	VAR_004723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	194	cd06947	NULL
367	113830	Disease	p.Arg840His	VAR_004723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	805	smart00430	NULL
367	113830	Disease	p.Arg840His	VAR_004723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	261	pfam00104	NULL
367	113830	Disease	p.Arg840His	VAR_004723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	181	cd06931	NULL
367	113830	Disease	p.Arg840His	VAR_004723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	188	cd06944	NULL
367	113830	Disease	p.Arg840His	VAR_004723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	192	cd06949	NULL
367	113830	Disease	p.Arg840His	VAR_004723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	181	cd06929	NULL
367	113830	Disease	p.Arg840His	VAR_004723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004723	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	182	cd07070	NULL
367	113830	Disease	p.Arg840Ser	VAR_009229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009229	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	205	cd06946	NULL
367	113830	Disease	p.Arg840Ser	VAR_009229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009229	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	219	cd07068	NULL
367	113830	Disease	p.Arg840Ser	VAR_009229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009229	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	226	cd06953	NULL
367	113830	Disease	p.Arg840Ser	VAR_009229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009229	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	210	cd06945	NULL
367	113830	Disease	p.Arg840Ser	VAR_009229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009229	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	175	cd06157	NULL
367	113830	Disease	p.Arg840Ser	VAR_009229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009229	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	198	cd06930	NULL
367	113830	Disease	p.Arg840Ser	VAR_009229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009229	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	194	cd07075	NULL
367	113830	Disease	p.Arg840Ser	VAR_009229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009229	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	169	cd07074	NULL
367	113830	Disease	p.Arg840Ser	VAR_009229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009229	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	169	cd07076	NULL
367	113830	Disease	p.Arg840Ser	VAR_009229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009229	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	209	cd06943	NULL
367	113830	Disease	p.Arg840Ser	VAR_009229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009229	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	169	cd07073	NULL
367	113830	Disease	p.Arg840Ser	VAR_009229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009229	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	194	cd06947	NULL
367	113830	Disease	p.Arg840Ser	VAR_009229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009229	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	805	smart00430	NULL
367	113830	Disease	p.Arg840Ser	VAR_009229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009229	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	261	pfam00104	NULL
367	113830	Disease	p.Arg840Ser	VAR_009229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009229	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	181	cd06931	NULL
367	113830	Disease	p.Arg840Ser	VAR_009229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009229	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	188	cd06944	NULL
367	113830	Disease	p.Arg840Ser	VAR_009229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009229	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	192	cd06949	NULL
367	113830	Disease	p.Arg840Ser	VAR_009229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009229	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	181	cd06929	NULL
367	113830	Disease	p.Arg840Ser	VAR_009229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009229	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	182	cd07070	NULL
367	113830	Disease	p.Ile841Ser	VAR_009833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009833	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	206	cd06946	NULL
367	113830	Disease	p.Ile841Ser	VAR_009833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009833	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	220	cd07068	NULL
367	113830	Disease	p.Ile841Ser	VAR_009833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009833	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	227	cd06953	NULL
367	113830	Disease	p.Ile841Ser	VAR_009833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009833	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	211	cd06945	NULL
367	113830	Disease	p.Ile841Ser	VAR_009833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009833	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	176	cd06157	NULL
367	113830	Disease	p.Ile841Ser	VAR_009833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009833	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	199	cd06930	NULL
367	113830	Disease	p.Ile841Ser	VAR_009833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009833	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	195	cd07075	NULL
367	113830	Disease	p.Ile841Ser	VAR_009833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009833	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	170	cd07074	NULL
367	113830	Disease	p.Ile841Ser	VAR_009833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009833	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	170	cd07076	NULL
367	113830	Disease	p.Ile841Ser	VAR_009833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009833	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	210	cd06943	NULL
367	113830	Disease	p.Ile841Ser	VAR_009833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009833	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	170	cd07073	NULL
367	113830	Disease	p.Ile841Ser	VAR_009833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009833	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	195	cd06947	NULL
367	113830	Disease	p.Ile841Ser	VAR_009833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009833	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	806	smart00430	NULL
367	113830	Disease	p.Ile841Ser	VAR_009833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009833	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	263	pfam00104	NULL
367	113830	Disease	p.Ile841Ser	VAR_009833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009833	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	182	cd06931	NULL
367	113830	Disease	p.Ile841Ser	VAR_009833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009833	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	189	cd06944	NULL
367	113830	Disease	p.Ile841Ser	VAR_009833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009833	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	193	cd06949	NULL
367	113830	Disease	p.Ile841Ser	VAR_009833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009833	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	182	cd06929	NULL
367	113830	Disease	p.Ile841Ser	VAR_009833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009833	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	183	cd07070	NULL
367	113830	Disease	p.Ile842Thr	VAR_004724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004724	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	207	cd06946	NULL
367	113830	Disease	p.Ile842Thr	VAR_004724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004724	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	221	cd07068	NULL
367	113830	Disease	p.Ile842Thr	VAR_004724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004724	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	228	cd06953	NULL
367	113830	Disease	p.Ile842Thr	VAR_004724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004724	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	212	cd06945	NULL
367	113830	Disease	p.Ile842Thr	VAR_004724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004724	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	177	cd06157	NULL
367	113830	Disease	p.Ile842Thr	VAR_004724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004724	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	200	cd06930	NULL
367	113830	Disease	p.Ile842Thr	VAR_004724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004724	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	196	cd07075	NULL
367	113830	Disease	p.Ile842Thr	VAR_004724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004724	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	171	cd07074	NULL
367	113830	Disease	p.Ile842Thr	VAR_004724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004724	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	171	cd07076	NULL
367	113830	Disease	p.Ile842Thr	VAR_004724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004724	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	210_G	cd06943	NULL
367	113830	Disease	p.Ile842Thr	VAR_004724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004724	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	171	cd07073	NULL
367	113830	Disease	p.Ile842Thr	VAR_004724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004724	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	196	cd06947	NULL
367	113830	Disease	p.Ile842Thr	VAR_004724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004724	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	807	smart00430	NULL
367	113830	Disease	p.Ile842Thr	VAR_004724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004724	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	268	pfam00104	NULL
367	113830	Disease	p.Ile842Thr	VAR_004724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004724	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	183	cd06931	NULL
367	113830	Disease	p.Ile842Thr	VAR_004724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004724	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	190	cd06944	NULL
367	113830	Disease	p.Ile842Thr	VAR_004724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004724	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	194	cd06949	NULL
367	113830	Disease	p.Ile842Thr	VAR_004724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004724	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	183	cd06929	NULL
367	113830	Disease	p.Ile842Thr	VAR_004724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004724	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	184	cd07070	NULL
367	113830	Disease	p.Arg854Lys	VAR_009835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009835	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	221	cd06946	NULL
367	113830	Disease	p.Arg854Lys	VAR_009835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009835	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	238	cd07068	NULL
367	113830	Disease	p.Arg854Lys	VAR_009835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009835	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	252_G	cd06953	NULL
367	113830	Disease	p.Arg854Lys	VAR_009835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009835	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	231	cd06945	NULL
367	113830	Disease	p.Arg854Lys	VAR_009835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009835	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	192	cd06157	NULL
367	113830	Disease	p.Arg854Lys	VAR_009835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009835	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	213	cd06930	NULL
367	113830	Disease	p.Arg854Lys	VAR_009835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009835	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	208	cd07075	NULL
367	113830	Disease	p.Arg854Lys	VAR_009835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009835	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	183	cd07074	NULL
367	113830	Disease	p.Arg854Lys	VAR_009835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009835	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	183	cd07076	NULL
367	113830	Disease	p.Arg854Lys	VAR_009835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009835	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	221	cd06943	NULL
367	113830	Disease	p.Arg854Lys	VAR_009835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009835	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	183	cd07073	NULL
367	113830	Disease	p.Arg854Lys	VAR_009835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009835	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	208	cd06947	NULL
367	113830	Disease	p.Arg854Lys	VAR_009835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009835	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	863	smart00430	NULL
367	113830	Disease	p.Arg854Lys	VAR_009835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009835	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	309	pfam00104	NULL
367	113830	Disease	p.Arg854Lys	VAR_009835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009835	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	192	cd06931	NULL
367	113830	Disease	p.Arg854Lys	VAR_009835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009835	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	200	cd06944	NULL
367	113830	Disease	p.Arg854Lys	VAR_009835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009835	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	209	cd06949	NULL
367	113830	Disease	p.Arg854Lys	VAR_009835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009835	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	215	cd06929	NULL
367	113830	Disease	p.Arg854Lys	VAR_009835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009835	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	193	cd07070	NULL
367	113830	Disease	p.Arg855Cys	VAR_004725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004725	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	222	cd06946	NULL
367	113830	Disease	p.Arg855Cys	VAR_004725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004725	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	239	cd07068	NULL
367	113830	Disease	p.Arg855Cys	VAR_004725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004725	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	253	cd06953	NULL
367	113830	Disease	p.Arg855Cys	VAR_004725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004725	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	232	cd06945	NULL
367	113830	Disease	p.Arg855Cys	VAR_004725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004725	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	193	cd06157	NULL
367	113830	Disease	p.Arg855Cys	VAR_004725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004725	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	214	cd06930	NULL
367	113830	Disease	p.Arg855Cys	VAR_004725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004725	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	209	cd07075	NULL
367	113830	Disease	p.Arg855Cys	VAR_004725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004725	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	184	cd07074	NULL
367	113830	Disease	p.Arg855Cys	VAR_004725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004725	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	184	cd07076	NULL
367	113830	Disease	p.Arg855Cys	VAR_004725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004725	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	244	cd06943	NULL
367	113830	Disease	p.Arg855Cys	VAR_004725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004725	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	184	cd07073	NULL
367	113830	Disease	p.Arg855Cys	VAR_004725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004725	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	209	cd06947	NULL
367	113830	Disease	p.Arg855Cys	VAR_004725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004725	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	867	smart00430	NULL
367	113830	Disease	p.Arg855Cys	VAR_004725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004725	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	310	pfam00104	NULL
367	113830	Disease	p.Arg855Cys	VAR_004725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004725	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	193	cd06931	NULL
367	113830	Disease	p.Arg855Cys	VAR_004725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004725	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	201	cd06944	NULL
367	113830	Disease	p.Arg855Cys	VAR_004725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004725	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	210	cd06949	NULL
367	113830	Disease	p.Arg855Cys	VAR_004725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004725	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	216	cd06929	NULL
367	113830	Disease	p.Arg855Cys	VAR_004725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004725	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	194	cd07070	NULL
367	113830	Disease	p.Arg855His	VAR_004726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004726	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	222	cd06946	NULL
367	113830	Disease	p.Arg855His	VAR_004726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004726	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	239	cd07068	NULL
367	113830	Disease	p.Arg855His	VAR_004726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004726	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	253	cd06953	NULL
367	113830	Disease	p.Arg855His	VAR_004726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004726	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	232	cd06945	NULL
367	113830	Disease	p.Arg855His	VAR_004726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004726	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	193	cd06157	NULL
367	113830	Disease	p.Arg855His	VAR_004726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004726	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	214	cd06930	NULL
367	113830	Disease	p.Arg855His	VAR_004726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004726	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	209	cd07075	NULL
367	113830	Disease	p.Arg855His	VAR_004726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004726	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	184	cd07074	NULL
367	113830	Disease	p.Arg855His	VAR_004726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004726	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	184	cd07076	NULL
367	113830	Disease	p.Arg855His	VAR_004726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004726	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	244	cd06943	NULL
367	113830	Disease	p.Arg855His	VAR_004726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004726	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	184	cd07073	NULL
367	113830	Disease	p.Arg855His	VAR_004726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004726	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	209	cd06947	NULL
367	113830	Disease	p.Arg855His	VAR_004726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004726	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	867	smart00430	NULL
367	113830	Disease	p.Arg855His	VAR_004726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004726	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	310	pfam00104	NULL
367	113830	Disease	p.Arg855His	VAR_004726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004726	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	193	cd06931	NULL
367	113830	Disease	p.Arg855His	VAR_004726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004726	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	201	cd06944	NULL
367	113830	Disease	p.Arg855His	VAR_004726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004726	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	210	cd06949	NULL
367	113830	Disease	p.Arg855His	VAR_004726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004726	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	216	cd06929	NULL
367	113830	Disease	p.Arg855His	VAR_004726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004726	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	194	cd07070	NULL
367	113830	Disease	p.Phe856Leu	VAR_009836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009836	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	223	cd06946	NULL
367	113830	Disease	p.Phe856Leu	VAR_009836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009836	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	240	cd07068	NULL
367	113830	Disease	p.Phe856Leu	VAR_009836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009836	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	254	cd06953	NULL
367	113830	Disease	p.Phe856Leu	VAR_009836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009836	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	233	cd06945	NULL
367	113830	Disease	p.Phe856Leu	VAR_009836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009836	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	194	cd06157	NULL
367	113830	Disease	p.Phe856Leu	VAR_009836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009836	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	215	cd06930	NULL
367	113830	Disease	p.Phe856Leu	VAR_009836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009836	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	210	cd07075	NULL
367	113830	Disease	p.Phe856Leu	VAR_009836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009836	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	185	cd07074	NULL
367	113830	Disease	p.Phe856Leu	VAR_009836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009836	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	185	cd07076	NULL
367	113830	Disease	p.Phe856Leu	VAR_009836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009836	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	245	cd06943	NULL
367	113830	Disease	p.Phe856Leu	VAR_009836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009836	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	185	cd07073	NULL
367	113830	Disease	p.Phe856Leu	VAR_009836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009836	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	210	cd06947	NULL
367	113830	Disease	p.Phe856Leu	VAR_009836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009836	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	870	smart00430	NULL
367	113830	Disease	p.Phe856Leu	VAR_009836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009836	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	315	pfam00104	NULL
367	113830	Disease	p.Phe856Leu	VAR_009836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009836	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	194	cd06931	NULL
367	113830	Disease	p.Phe856Leu	VAR_009836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009836	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	202	cd06944	NULL
367	113830	Disease	p.Phe856Leu	VAR_009836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009836	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	211	cd06949	NULL
367	113830	Disease	p.Phe856Leu	VAR_009836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009836	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	217	cd06929	NULL
367	113830	Disease	p.Phe856Leu	VAR_009836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009836	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	195	cd07070	NULL
367	113830	Disease	p.Leu863Arg	VAR_009837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009837	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	230	cd06946	NULL
367	113830	Disease	p.Leu863Arg	VAR_009837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009837	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	247	cd07068	NULL
367	113830	Disease	p.Leu863Arg	VAR_009837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009837	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	261	cd06953	NULL
367	113830	Disease	p.Leu863Arg	VAR_009837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009837	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	240	cd06945	NULL
367	113830	Disease	p.Leu863Arg	VAR_009837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009837	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	201	cd06157	NULL
367	113830	Disease	p.Leu863Arg	VAR_009837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009837	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	222	cd06930	NULL
367	113830	Disease	p.Leu863Arg	VAR_009837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009837	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	217	cd07075	NULL
367	113830	Disease	p.Leu863Arg	VAR_009837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009837	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	192	cd07074	NULL
367	113830	Disease	p.Leu863Arg	VAR_009837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009837	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	192	cd07076	NULL
367	113830	Disease	p.Leu863Arg	VAR_009837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009837	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	192	cd07073	NULL
367	113830	Disease	p.Leu863Arg	VAR_009837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009837	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	217	cd06947	NULL
367	113830	Disease	p.Leu863Arg	VAR_009837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009837	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	878	smart00430	NULL
367	113830	Disease	p.Leu863Arg	VAR_009837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009837	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	324	pfam00104	NULL
367	113830	Disease	p.Leu863Arg	VAR_009837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009837	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	201	cd06931	NULL
367	113830	Disease	p.Leu863Arg	VAR_009837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009837	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	209	cd06944	NULL
367	113830	Disease	p.Leu863Arg	VAR_009837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009837	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	218	cd06949	NULL
367	113830	Disease	p.Leu863Arg	VAR_009837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009837	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	224	cd06929	NULL
367	113830	Disease	p.Leu863Arg	VAR_009837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009837	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	202	cd07070	NULL
367	113830	Disease	p.Asp864Gly	VAR_009838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009838	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	231	cd06946	NULL
367	113830	Disease	p.Asp864Gly	VAR_009838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009838	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	248	cd07068	NULL
367	113830	Disease	p.Asp864Gly	VAR_009838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009838	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	262	cd06953	NULL
367	113830	Disease	p.Asp864Gly	VAR_009838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009838	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	241	cd06945	NULL
367	113830	Disease	p.Asp864Gly	VAR_009838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009838	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	202	cd06157	NULL
367	113830	Disease	p.Asp864Gly	VAR_009838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009838	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	223	cd06930	NULL
367	113830	Disease	p.Asp864Gly	VAR_009838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009838	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	218	cd07075	NULL
367	113830	Disease	p.Asp864Gly	VAR_009838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009838	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	193	cd07074	NULL
367	113830	Disease	p.Asp864Gly	VAR_009838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009838	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	193	cd07076	NULL
367	113830	Disease	p.Asp864Gly	VAR_009838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009838	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	193	cd07073	NULL
367	113830	Disease	p.Asp864Gly	VAR_009838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009838	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	218	cd06947	NULL
367	113830	Disease	p.Asp864Gly	VAR_009838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009838	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	879	smart00430	NULL
367	113830	Disease	p.Asp864Gly	VAR_009838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009838	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	325	pfam00104	NULL
367	113830	Disease	p.Asp864Gly	VAR_009838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009838	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	202	cd06931	NULL
367	113830	Disease	p.Asp864Gly	VAR_009838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009838	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	210	cd06944	NULL
367	113830	Disease	p.Asp864Gly	VAR_009838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009838	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	219	cd06949	NULL
367	113830	Disease	p.Asp864Gly	VAR_009838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009838	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	225	cd06929	NULL
367	113830	Disease	p.Asp864Gly	VAR_009838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009838	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	203	cd07070	NULL
367	113830	Disease	p.Asp864Asn	VAR_004727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	231	cd06946	NULL
367	113830	Disease	p.Asp864Asn	VAR_004727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	248	cd07068	NULL
367	113830	Disease	p.Asp864Asn	VAR_004727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	262	cd06953	NULL
367	113830	Disease	p.Asp864Asn	VAR_004727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	241	cd06945	NULL
367	113830	Disease	p.Asp864Asn	VAR_004727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	202	cd06157	NULL
367	113830	Disease	p.Asp864Asn	VAR_004727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	223	cd06930	NULL
367	113830	Disease	p.Asp864Asn	VAR_004727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	218	cd07075	NULL
367	113830	Disease	p.Asp864Asn	VAR_004727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	193	cd07074	NULL
367	113830	Disease	p.Asp864Asn	VAR_004727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	193	cd07076	NULL
367	113830	Disease	p.Asp864Asn	VAR_004727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	193	cd07073	NULL
367	113830	Disease	p.Asp864Asn	VAR_004727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	218	cd06947	NULL
367	113830	Disease	p.Asp864Asn	VAR_004727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	879	smart00430	NULL
367	113830	Disease	p.Asp864Asn	VAR_004727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	325	pfam00104	NULL
367	113830	Disease	p.Asp864Asn	VAR_004727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	202	cd06931	NULL
367	113830	Disease	p.Asp864Asn	VAR_004727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	210	cd06944	NULL
367	113830	Disease	p.Asp864Asn	VAR_004727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	219	cd06949	NULL
367	113830	Disease	p.Asp864Asn	VAR_004727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	225	cd06929	NULL
367	113830	Disease	p.Asp864Asn	VAR_004727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004727	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	203	cd07070	NULL
367	113830	Disease	p.Ser865Pro	VAR_009839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009839	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	232	cd06946	NULL
367	113830	Disease	p.Ser865Pro	VAR_009839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009839	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	249	cd07068	NULL
367	113830	Disease	p.Ser865Pro	VAR_009839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009839	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	263	cd06953	NULL
367	113830	Disease	p.Ser865Pro	VAR_009839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009839	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	242	cd06945	NULL
367	113830	Disease	p.Ser865Pro	VAR_009839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009839	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	203	cd06157	NULL
367	113830	Disease	p.Ser865Pro	VAR_009839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009839	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	224	cd06930	NULL
367	113830	Disease	p.Ser865Pro	VAR_009839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009839	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	219	cd07075	NULL
367	113830	Disease	p.Ser865Pro	VAR_009839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009839	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	194	cd07074	NULL
367	113830	Disease	p.Ser865Pro	VAR_009839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009839	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	194	cd07076	NULL
367	113830	Disease	p.Ser865Pro	VAR_009839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009839	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	194	cd07073	NULL
367	113830	Disease	p.Ser865Pro	VAR_009839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009839	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	219	cd06947	NULL
367	113830	Disease	p.Ser865Pro	VAR_009839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009839	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	880	smart00430	NULL
367	113830	Disease	p.Ser865Pro	VAR_009839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009839	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	326	pfam00104	NULL
367	113830	Disease	p.Ser865Pro	VAR_009839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009839	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	203	cd06931	NULL
367	113830	Disease	p.Ser865Pro	VAR_009839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009839	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	211	cd06944	NULL
367	113830	Disease	p.Ser865Pro	VAR_009839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009839	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	220	cd06949	NULL
367	113830	Disease	p.Ser865Pro	VAR_009839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009839	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	226	cd06929	NULL
367	113830	Disease	p.Ser865Pro	VAR_009839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009839	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	204	cd07070	NULL
367	113830	Disease	p.Val866Glu	VAR_004728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	233	cd06946	NULL
367	113830	Disease	p.Val866Glu	VAR_004728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	250	cd07068	NULL
367	113830	Disease	p.Val866Glu	VAR_004728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	264	cd06953	NULL
367	113830	Disease	p.Val866Glu	VAR_004728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	243	cd06945	NULL
367	113830	Disease	p.Val866Glu	VAR_004728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	204	cd06157	NULL
367	113830	Disease	p.Val866Glu	VAR_004728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	225	cd06930	NULL
367	113830	Disease	p.Val866Glu	VAR_004728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	220	cd07075	NULL
367	113830	Disease	p.Val866Glu	VAR_004728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	195	cd07074	NULL
367	113830	Disease	p.Val866Glu	VAR_004728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	195	cd07076	NULL
367	113830	Disease	p.Val866Glu	VAR_004728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	195	cd07073	NULL
367	113830	Disease	p.Val866Glu	VAR_004728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	220	cd06947	NULL
367	113830	Disease	p.Val866Glu	VAR_004728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	881	smart00430	NULL
367	113830	Disease	p.Val866Glu	VAR_004728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	328	pfam00104	NULL
367	113830	Disease	p.Val866Glu	VAR_004728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	204	cd06931	NULL
367	113830	Disease	p.Val866Glu	VAR_004728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	212	cd06944	NULL
367	113830	Disease	p.Val866Glu	VAR_004728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	221	cd06949	NULL
367	113830	Disease	p.Val866Glu	VAR_004728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	227	cd06929	NULL
367	113830	Disease	p.Val866Glu	VAR_004728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004728	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	205	cd07070	NULL
367	113830	Disease	p.Val866Leu	VAR_004729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004729	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	233	cd06946	NULL
367	113830	Disease	p.Val866Leu	VAR_004729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004729	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	250	cd07068	NULL
367	113830	Disease	p.Val866Leu	VAR_004729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004729	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	264	cd06953	NULL
367	113830	Disease	p.Val866Leu	VAR_004729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004729	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	243	cd06945	NULL
367	113830	Disease	p.Val866Leu	VAR_004729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004729	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	204	cd06157	NULL
367	113830	Disease	p.Val866Leu	VAR_004729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004729	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	225	cd06930	NULL
367	113830	Disease	p.Val866Leu	VAR_004729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004729	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	220	cd07075	NULL
367	113830	Disease	p.Val866Leu	VAR_004729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004729	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	195	cd07074	NULL
367	113830	Disease	p.Val866Leu	VAR_004729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004729	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	195	cd07076	NULL
367	113830	Disease	p.Val866Leu	VAR_004729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004729	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	195	cd07073	NULL
367	113830	Disease	p.Val866Leu	VAR_004729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004729	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	220	cd06947	NULL
367	113830	Disease	p.Val866Leu	VAR_004729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004729	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	881	smart00430	NULL
367	113830	Disease	p.Val866Leu	VAR_004729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004729	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	328	pfam00104	NULL
367	113830	Disease	p.Val866Leu	VAR_004729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004729	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	204	cd06931	NULL
367	113830	Disease	p.Val866Leu	VAR_004729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004729	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	212	cd06944	NULL
367	113830	Disease	p.Val866Leu	VAR_004729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004729	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	221	cd06949	NULL
367	113830	Disease	p.Val866Leu	VAR_004729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004729	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	227	cd06929	NULL
367	113830	Disease	p.Val866Leu	VAR_004729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004729	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	205	cd07070	NULL
367	113830	Disease	p.Val866Met	VAR_004730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004730	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	233	cd06946	NULL
367	113830	Disease	p.Val866Met	VAR_004730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004730	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	250	cd07068	NULL
367	113830	Disease	p.Val866Met	VAR_004730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004730	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	264	cd06953	NULL
367	113830	Disease	p.Val866Met	VAR_004730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004730	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	243	cd06945	NULL
367	113830	Disease	p.Val866Met	VAR_004730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004730	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	204	cd06157	NULL
367	113830	Disease	p.Val866Met	VAR_004730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004730	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	225	cd06930	NULL
367	113830	Disease	p.Val866Met	VAR_004730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004730	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	220	cd07075	NULL
367	113830	Disease	p.Val866Met	VAR_004730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004730	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	195	cd07074	NULL
367	113830	Disease	p.Val866Met	VAR_004730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004730	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	195	cd07076	NULL
367	113830	Disease	p.Val866Met	VAR_004730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004730	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	195	cd07073	NULL
367	113830	Disease	p.Val866Met	VAR_004730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004730	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	220	cd06947	NULL
367	113830	Disease	p.Val866Met	VAR_004730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004730	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	881	smart00430	NULL
367	113830	Disease	p.Val866Met	VAR_004730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004730	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	328	pfam00104	NULL
367	113830	Disease	p.Val866Met	VAR_004730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004730	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	204	cd06931	NULL
367	113830	Disease	p.Val866Met	VAR_004730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004730	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	212	cd06944	NULL
367	113830	Disease	p.Val866Met	VAR_004730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004730	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	221	cd06949	NULL
367	113830	Disease	p.Val866Met	VAR_004730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004730	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	227	cd06929	NULL
367	113830	Disease	p.Val866Met	VAR_004730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004730	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	205	cd07070	NULL
367	113830	Disease	p.Ile869Met	VAR_004731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004731	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	236	cd06946	NULL
367	113830	Disease	p.Ile869Met	VAR_004731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004731	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	253	cd07068	NULL
367	113830	Disease	p.Ile869Met	VAR_004731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004731	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	267	cd06953	NULL
367	113830	Disease	p.Ile869Met	VAR_004731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004731	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	246	cd06945	NULL
367	113830	Disease	p.Ile869Met	VAR_004731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004731	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	223	cd07075	NULL
367	113830	Disease	p.Ile869Met	VAR_004731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004731	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	198	cd07074	NULL
367	113830	Disease	p.Ile869Met	VAR_004731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004731	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	198	cd07076	NULL
367	113830	Disease	p.Ile869Met	VAR_004731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004731	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	198	cd07073	NULL
367	113830	Disease	p.Ile869Met	VAR_004731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004731	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	223	cd06947	NULL
367	113830	Disease	p.Ile869Met	VAR_004731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004731	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	331	pfam00104	NULL
367	113830	Disease	p.Ile869Met	VAR_004731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004731	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	207	cd06931	NULL
367	113830	Disease	p.Ile869Met	VAR_004731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004731	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	215	cd06944	NULL
367	113830	Disease	p.Ile869Met	VAR_004731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004731	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	224	cd06949	NULL
367	113830	Disease	p.Ile869Met	VAR_004731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004731	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	230	cd06929	NULL
367	113830	Disease	p.Ile869Met	VAR_004731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004731	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	208	cd07070	NULL
367	113830	Disease	p.Ala870Gly	VAR_009840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009840	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	237	cd06946	NULL
367	113830	Disease	p.Ala870Gly	VAR_009840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009840	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	254	cd07068	NULL
367	113830	Disease	p.Ala870Gly	VAR_009840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009840	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	268	cd06953	NULL
367	113830	Disease	p.Ala870Gly	VAR_009840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009840	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	247	cd06945	NULL
367	113830	Disease	p.Ala870Gly	VAR_009840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009840	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	224	cd07075	NULL
367	113830	Disease	p.Ala870Gly	VAR_009840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009840	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	199	cd07074	NULL
367	113830	Disease	p.Ala870Gly	VAR_009840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009840	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	199	cd07076	NULL
367	113830	Disease	p.Ala870Gly	VAR_009840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009840	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	199	cd07073	NULL
367	113830	Disease	p.Ala870Gly	VAR_009840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009840	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	224	cd06947	NULL
367	113830	Disease	p.Ala870Gly	VAR_009840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009840	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	332	pfam00104	NULL
367	113830	Disease	p.Ala870Gly	VAR_009840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009840	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	208	cd06931	NULL
367	113830	Disease	p.Ala870Gly	VAR_009840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009840	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	216	cd06944	NULL
367	113830	Disease	p.Ala870Gly	VAR_009840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009840	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	225	cd06949	NULL
367	113830	Disease	p.Ala870Gly	VAR_009840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009840	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	231	cd06929	NULL
367	113830	Disease	p.Ala870Gly	VAR_009840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009840	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	209	cd07070	NULL
367	113830	Disease	p.Ala870Val	VAR_009841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009841	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	237	cd06946	NULL
367	113830	Disease	p.Ala870Val	VAR_009841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009841	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	254	cd07068	NULL
367	113830	Disease	p.Ala870Val	VAR_009841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009841	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	268	cd06953	NULL
367	113830	Disease	p.Ala870Val	VAR_009841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009841	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	247	cd06945	NULL
367	113830	Disease	p.Ala870Val	VAR_009841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009841	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	224	cd07075	NULL
367	113830	Disease	p.Ala870Val	VAR_009841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009841	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	199	cd07074	NULL
367	113830	Disease	p.Ala870Val	VAR_009841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009841	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	199	cd07076	NULL
367	113830	Disease	p.Ala870Val	VAR_009841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009841	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	199	cd07073	NULL
367	113830	Disease	p.Ala870Val	VAR_009841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009841	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	224	cd06947	NULL
367	113830	Disease	p.Ala870Val	VAR_009841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009841	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	332	pfam00104	NULL
367	113830	Disease	p.Ala870Val	VAR_009841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009841	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	208	cd06931	NULL
367	113830	Disease	p.Ala870Val	VAR_009841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009841	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	216	cd06944	NULL
367	113830	Disease	p.Ala870Val	VAR_009841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009841	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	225	cd06949	NULL
367	113830	Disease	p.Ala870Val	VAR_009841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009841	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	231	cd06929	NULL
367	113830	Disease	p.Ala870Val	VAR_009841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009841	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	209	cd07070	NULL
367	113830	Disease	p.Arg871Gly	VAR_009842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009842	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	238	cd06946	NULL
367	113830	Disease	p.Arg871Gly	VAR_009842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009842	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	255	cd07068	NULL
367	113830	Disease	p.Arg871Gly	VAR_009842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009842	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	269	cd06953	NULL
367	113830	Disease	p.Arg871Gly	VAR_009842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009842	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	248	cd06945	NULL
367	113830	Disease	p.Arg871Gly	VAR_009842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009842	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	225	cd07075	NULL
367	113830	Disease	p.Arg871Gly	VAR_009842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009842	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	200	cd07074	NULL
367	113830	Disease	p.Arg871Gly	VAR_009842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009842	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	200	cd07076	NULL
367	113830	Disease	p.Arg871Gly	VAR_009842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009842	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	200	cd07073	NULL
367	113830	Disease	p.Arg871Gly	VAR_009842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009842	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	225	cd06947	NULL
367	113830	Disease	p.Arg871Gly	VAR_009842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009842	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	337	pfam00104	NULL
367	113830	Disease	p.Arg871Gly	VAR_009842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009842	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	209	cd06931	NULL
367	113830	Disease	p.Arg871Gly	VAR_009842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009842	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	217	cd06944	NULL
367	113830	Disease	p.Arg871Gly	VAR_009842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009842	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	226	cd06949	NULL
367	113830	Disease	p.Arg871Gly	VAR_009842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009842	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	232	cd06929	NULL
367	113830	Disease	p.Arg871Gly	VAR_009842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009842	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	210	cd07070	NULL
367	113830	Disease	p.His874Arg	VAR_013479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013479	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	241	cd06946	NULL
367	113830	Disease	p.His874Arg	VAR_013479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013479	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	258	cd07068	NULL
367	113830	Disease	p.His874Arg	VAR_013479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013479	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	272	cd06953	NULL
367	113830	Disease	p.His874Arg	VAR_013479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013479	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	251	cd06945	NULL
367	113830	Disease	p.His874Arg	VAR_013479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013479	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	228	cd07075	NULL
367	113830	Disease	p.His874Arg	VAR_013479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013479	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	203	cd07074	NULL
367	113830	Disease	p.His874Arg	VAR_013479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013479	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	203	cd07076	NULL
367	113830	Disease	p.His874Arg	VAR_013479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013479	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	203	cd07073	NULL
367	113830	Disease	p.His874Arg	VAR_013479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013479	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	228	cd06947	NULL
367	113830	Disease	p.His874Arg	VAR_013479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013479	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	341	pfam00104	NULL
367	113830	Disease	p.His874Arg	VAR_013479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013479	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	213	cd06931	NULL
367	113830	Disease	p.His874Arg	VAR_013479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013479	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	220	cd06944	NULL
367	113830	Disease	p.His874Arg	VAR_013479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013479	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	229	cd06949	NULL
367	113830	Disease	p.His874Arg	VAR_013479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013479	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	235	cd06929	NULL
367	113830	Disease	p.His874Arg	VAR_013479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013479	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	213	cd07070	NULL
367	113830	Disease	p.Asp879Tyr	VAR_013480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013480	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	245	cd06946	NULL
367	113830	Disease	p.Asp879Tyr	VAR_013480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013480	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	262	cd07068	NULL
367	113830	Disease	p.Asp879Tyr	VAR_013480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013480	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	277	cd06953	NULL
367	113830	Disease	p.Asp879Tyr	VAR_013480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013480	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	263	cd06945	NULL
367	113830	Disease	p.Asp879Tyr	VAR_013480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013480	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	233	cd07075	NULL
367	113830	Disease	p.Asp879Tyr	VAR_013480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013480	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	208	cd07074	NULL
367	113830	Disease	p.Asp879Tyr	VAR_013480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013480	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	208	cd07076	NULL
367	113830	Disease	p.Asp879Tyr	VAR_013480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013480	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	208	cd07073	NULL
367	113830	Disease	p.Asp879Tyr	VAR_013480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013480	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	233	cd06947	NULL
367	113830	Disease	p.Asp879Tyr	VAR_013480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013480	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	353	pfam00104	NULL
367	113830	Disease	p.Asp879Tyr	VAR_013480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013480	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	218	cd06931	NULL
367	113830	Disease	p.Asp879Tyr	VAR_013480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013480	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	236	cd06944	NULL
367	113830	Disease	p.Asp879Tyr	VAR_013480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013480	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	234	cd06949	NULL
367	113830	Disease	p.Asp879Tyr	VAR_013480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013480	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	215_G	cd07070	NULL
367	113830	Disease	p.Leu881Val	VAR_009846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009846	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	247	cd06946	NULL
367	113830	Disease	p.Leu881Val	VAR_009846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009846	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	264	cd07068	NULL
367	113830	Disease	p.Leu881Val	VAR_009846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009846	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	282	cd06953	NULL
367	113830	Disease	p.Leu881Val	VAR_009846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009846	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	265	cd06945	NULL
367	113830	Disease	p.Leu881Val	VAR_009846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009846	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	235	cd07075	NULL
367	113830	Disease	p.Leu881Val	VAR_009846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009846	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	210	cd07074	NULL
367	113830	Disease	p.Leu881Val	VAR_009846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009846	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	210	cd07076	NULL
367	113830	Disease	p.Leu881Val	VAR_009846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009846	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	210	cd07073	NULL
367	113830	Disease	p.Leu881Val	VAR_009846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009846	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	235	cd06947	NULL
367	113830	Disease	p.Leu881Val	VAR_009846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009846	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	356	pfam00104	NULL
367	113830	Disease	p.Leu881Val	VAR_009846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009846	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	220	cd06931	NULL
367	113830	Disease	p.Leu881Val	VAR_009846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009846	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	238	cd06944	NULL
367	113830	Disease	p.Leu881Val	VAR_009846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009846	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	236	cd06949	NULL
367	113830	Disease	p.Leu881Val	VAR_009846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009846	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	217	cd07070	NULL
367	113830	Disease	p.Met886Val	VAR_009847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009847	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	252	cd06946	NULL
367	113830	Disease	p.Met886Val	VAR_009847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009847	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	269	cd07068	NULL
367	113830	Disease	p.Met886Val	VAR_009847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009847	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	270	cd06945	NULL
367	113830	Disease	p.Met886Val	VAR_009847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009847	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	296	cd07075	NULL
367	113830	Disease	p.Met886Val	VAR_009847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009847	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	215	cd07074	NULL
367	113830	Disease	p.Met886Val	VAR_009847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009847	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	215	cd07076	NULL
367	113830	Disease	p.Met886Val	VAR_009847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009847	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	217	cd07073	NULL
367	113830	Disease	p.Met886Val	VAR_009847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009847	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	296	cd06947	NULL
367	113830	Disease	p.Met886Val	VAR_009847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009847	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	362	pfam00104	NULL
367	113830	Disease	p.Met886Val	VAR_009847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009847	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	223	cd06931	NULL
367	113830	Disease	p.Met886Val	VAR_009847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009847	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	240	cd06949	NULL
367	113830	Disease	p.Met886Val	VAR_009847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009847	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	222	cd07070	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	255	cd06946	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	272	cd07068	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	273	cd06945	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	299	cd07075	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	218	cd07074	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	217	cd07076	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	220	cd07073	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	299	cd06947	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	369	pfam00104	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	226	cd06931	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	243	cd06949	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	225	cd07070	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	255	cd06946	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	272	cd07068	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	273	cd06945	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	299	cd07075	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	218	cd07074	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	217	cd07076	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	220	cd07073	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	299	cd06947	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	369	pfam00104	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	226	cd06931	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	243	cd06949	NULL
367	113830	Disease	p.Val889Met	VAR_009848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009848	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	225	cd07070	NULL
367	113830	Disease	p.Pro892Leu	VAR_004733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	260	cd06946	NULL
367	113830	Disease	p.Pro892Leu	VAR_004733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	277	cd07068	NULL
367	113830	Disease	p.Pro892Leu	VAR_004733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	302	cd07075	NULL
367	113830	Disease	p.Pro892Leu	VAR_004733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	221	cd07074	NULL
367	113830	Disease	p.Pro892Leu	VAR_004733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	220	cd07076	NULL
367	113830	Disease	p.Pro892Leu	VAR_004733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	223	cd07073	NULL
367	113830	Disease	p.Pro892Leu	VAR_004733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	302	cd06947	NULL
367	113830	Disease	p.Pro892Leu	VAR_004733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	372	pfam00104	NULL
367	113830	Disease	p.Pro892Leu	VAR_004733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	231	cd06931	NULL
367	113830	Disease	p.Pro892Leu	VAR_004733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	244_G	cd06949	NULL
367	113830	Disease	p.Pro892Leu	VAR_004733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004733	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	228	cd07070	NULL
367	113830	Disease	p.Met895Thr	VAR_004734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	263	cd06946	NULL
367	113830	Disease	p.Met895Thr	VAR_004734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	280	cd07068	NULL
367	113830	Disease	p.Met895Thr	VAR_004734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	305	cd07075	NULL
367	113830	Disease	p.Met895Thr	VAR_004734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	224	cd07074	NULL
367	113830	Disease	p.Met895Thr	VAR_004734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	223	cd07076	NULL
367	113830	Disease	p.Met895Thr	VAR_004734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	226	cd07073	NULL
367	113830	Disease	p.Met895Thr	VAR_004734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	305	cd06947	NULL
367	113830	Disease	p.Met895Thr	VAR_004734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	377	pfam00104	NULL
367	113830	Disease	p.Met895Thr	VAR_004734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	247	cd06949	NULL
367	113830	Disease	p.Met895Thr	VAR_004734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004734	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	231	cd07070	NULL
367	113830	Disease	p.Ile898Thr	VAR_009852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009852	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	308	cd07075	NULL
367	113830	Disease	p.Ile898Thr	VAR_009852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009852	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	227	cd07074	NULL
367	113830	Disease	p.Ile898Thr	VAR_009852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009852	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	226	cd07076	NULL
367	113830	Disease	p.Ile898Thr	VAR_009852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009852	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	229	cd07073	NULL
367	113830	Disease	p.Ile898Thr	VAR_009852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009852	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	308	cd06947	NULL
367	113830	Disease	p.Ile898Thr	VAR_009852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009852	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	250	cd06949	NULL
367	113830	Disease	p.Ile898Thr	VAR_009852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009852	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	234	cd07070	NULL
367	113830	Disease	p.Val903Met	VAR_009854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009854	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	313	cd07075	NULL
367	113830	Disease	p.Val903Met	VAR_009854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009854	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	232	cd07074	NULL
367	113830	Disease	p.Val903Met	VAR_009854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009854	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	231	cd07076	NULL
367	113830	Disease	p.Val903Met	VAR_009854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009854	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	234	cd07073	NULL
367	113830	Disease	p.Val903Met	VAR_009854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009854	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	313	cd06947	NULL
367	113830	Disease	p.Pro904His	VAR_009855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009855	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	314	cd07075	NULL
367	113830	Disease	p.Pro904His	VAR_009855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009855	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	233	cd07074	NULL
367	113830	Disease	p.Pro904His	VAR_009855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009855	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	232	cd07076	NULL
367	113830	Disease	p.Pro904His	VAR_009855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009855	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	235	cd07073	NULL
367	113830	Disease	p.Pro904His	VAR_009855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009855	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	314	cd06947	NULL
367	113830	Disease	p.Pro904Ser	VAR_009856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009856	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	314	cd07075	NULL
367	113830	Disease	p.Pro904Ser	VAR_009856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009856	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	233	cd07074	NULL
367	113830	Disease	p.Pro904Ser	VAR_009856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009856	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	232	cd07076	NULL
367	113830	Disease	p.Pro904Ser	VAR_009856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009856	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	235	cd07073	NULL
367	113830	Disease	p.Pro904Ser	VAR_009856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009856	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	314	cd06947	NULL
367	113830	Disease	p.Leu907Phe	VAR_004735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004735	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	317	cd07075	NULL
367	113830	Disease	p.Leu907Phe	VAR_004735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004735	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	236	cd07074	NULL
367	113830	Disease	p.Leu907Phe	VAR_004735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004735	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	235	cd07076	NULL
367	113830	Disease	p.Leu907Phe	VAR_004735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004735	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	238	cd07073	NULL
367	113830	Disease	p.Leu907Phe	VAR_004735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004735	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	317	cd06947	NULL
367	113830	Disease	p.Gly909Arg	VAR_009858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009858	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	319	cd07075	NULL
367	113830	Disease	p.Gly909Arg	VAR_009858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009858	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	238	cd07074	NULL
367	113830	Disease	p.Gly909Arg	VAR_009858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009858	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	237	cd07076	NULL
367	113830	Disease	p.Gly909Arg	VAR_009858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009858	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	240	cd07073	NULL
367	113830	Disease	p.Gly909Arg	VAR_009858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009858	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	319	cd06947	NULL
367	113830	Disease	p.Val911Leu	VAR_009860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009860	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	321	cd07075	NULL
367	113830	Disease	p.Val911Leu	VAR_009860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009860	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	240	cd07074	NULL
367	113830	Disease	p.Val911Leu	VAR_009860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009860	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	239	cd07076	NULL
367	113830	Disease	p.Val911Leu	VAR_009860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009860	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	242	cd07073	NULL
367	113830	Disease	p.Val911Leu	VAR_009860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009860	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	321	cd06947	NULL
367	113830	Disease	p.Pro913Ser	VAR_004736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004736	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	323	cd07075	NULL
367	113830	Disease	p.Pro913Ser	VAR_004736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004736	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	242	cd07074	NULL
367	113830	Disease	p.Pro913Ser	VAR_004736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004736	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	241	cd07076	NULL
367	113830	Disease	p.Pro913Ser	VAR_004736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004736	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	244	cd07073	NULL
367	113830	Disease	p.Pro913Ser	VAR_004736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004736	- Androgen insensitivity syndrome partial (PAIS) [MIM:312300]	SWISS	323	cd06947	NULL
367	113830	Disease	p.Phe916Leu	VAR_009861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009861	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	326	cd07075	NULL
367	113830	Disease	p.Phe916Leu	VAR_009861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009861	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	245	cd07074	NULL
367	113830	Disease	p.Phe916Leu	VAR_009861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009861	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	244	cd07076	NULL
367	113830	Disease	p.Phe916Leu	VAR_009861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009861	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	247	cd07073	NULL
367	113830	Disease	p.Phe916Leu	VAR_009861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009861	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	326	cd06947	NULL
367	113830	Disease	p.His917Arg	VAR_009862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009862	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	327	cd07075	NULL
367	113830	Disease	p.His917Arg	VAR_009862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009862	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	246	cd07074	NULL
367	113830	Disease	p.His917Arg	VAR_009862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009862	- Androgen insensitivity syndrome (AIS) [MIM:300068]	SWISS	245	cd07076	NULL
10564	146329988	Disease	p.Glu209Lys	VAR_037438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037438	rs28937880 Autosomal recessive periventricular nodular heterotopia type 2 (PVNH2) [MIM:608097]	SWISS	No Domain	N/A	150417986,NP_006411
383	12230985	Disease	p.Ile11Thr	VAR_015594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015594	rs28941474 Argininemia (ARGIN) [MIM:207800]	SWISS	6	pfam00491	10947139,NP_000036
383	12230985	Disease	p.Ile11Thr	VAR_015594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015594	rs28941474 Argininemia (ARGIN) [MIM:207800]	SWISS	32	COG0010	10947139,NP_000036
383	12230985	Disease	p.Gly138Val	VAR_015595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015595	- Argininemia (ARGIN) [MIM:207800]	SWISS	552	pfam00491	10947139,NP_000036
383	12230985	Disease	p.Gly138Val	VAR_015595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015595	- Argininemia (ARGIN) [MIM:207800]	SWISS	208	COG0010	10947139,NP_000036
383	12230985	Disease	p.Gly235Arg	VAR_000674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000674	- Argininemia (ARGIN) [MIM:207800]	SWISS	799	pfam00491	10947139,NP_000036
383	12230985	Disease	p.Gly235Arg	VAR_000674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000674	- Argininemia (ARGIN) [MIM:207800]	SWISS	334	COG0010	10947139,NP_000036
9639	109940053	Disease	p.Thr357Ile	VAR_019118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019118	- Slowed nerve conduction velocity (SNCV) [MIM:608236]	SWISS	No Domain	N/A	NULL
23229	116243005	Disease	p.Gly55Ala	VAR_028752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028752	- Startle disease with epilepsy (STHEE) [MIM:300607]	SWISS	132	smart00326	7662108,NP_056000
23229	116243005	Disease	p.Gly55Ala	VAR_028752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028752	- Startle disease with epilepsy (STHEE) [MIM:300607]	SWISS	135	pfam07653	7662108,NP_056000
23229	116243005	Disease	p.Gly55Ala	VAR_028752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028752	- Startle disease with epilepsy (STHEE) [MIM:300607]	SWISS	102	cd00174	7662108,NP_056000
23229	116243005	Disease	p.Gly55Ala	VAR_028752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028752	- Startle disease with epilepsy (STHEE) [MIM:300607]	SWISS	52	pfam00018	7662108,NP_056000
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	79	cd04153	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	81	cd00879	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	75	smart00178	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	129	cd00880	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	311	cd00882	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	83	cd04155	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	177	COG1100	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	71	smart00177	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	85	cd04139	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	58	cd04150	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	117	cd04105	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	212	cd00154	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	83	pfam00025	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	57	cd04151	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	85	cd04154	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	67	cd04149	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	67	cd04152	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	58	cd04158	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	71	cd04159	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	61	cd04157	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	58	cd04161	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	85	cd04160	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	128	cd00878	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	58	cd04162	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg79Gln	VAR_054371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054371	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	61	cd04156	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg200Cys	VAR_054372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054372	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	437	COG1100	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg200Cys	VAR_054372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054372	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	286	cd04105	292658834,NP_001167621|33598956,NP_878899
200894	115503786	Disease	p.Arg200Cys	VAR_054372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054372	- Joubert syndrome type 8 (JBTS8) [MIM:612291]	SWISS	197	cd04152	292658834,NP_001167621|33598956,NP_878899
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	29	cd04155	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	31	pfam00025	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	27	smart00177	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	23	cd04149	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	32	cd04154	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	40	COG1100	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	29	cd04153	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	37	cd00879	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	13	cd04161	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	13	cd04159	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	17	pfam09439	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	17	cd04152	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	10	cd01881	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	10	cd00882	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	24	COG2229	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	31	smart00178	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	14	cd04150	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	14	cd00877	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	14	cd01863	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	14	cd00154	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	14	cd04105	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	13	cd04156	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	13	cd00878	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	13	cd04160	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	13	cd04157	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	13	cd04151	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	13	cd04162	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Met	VAR_027643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027643	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	13	cd04158	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	29	cd04155	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	31	pfam00025	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	27	smart00177	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	23	cd04149	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	32	cd04154	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	40	COG1100	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	29	cd04153	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	37	cd00879	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	13	cd04161	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	13	cd04159	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	17	pfam09439	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	17	cd04152	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	10	cd01881	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	10	cd00882	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	24	COG2229	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	31	smart00178	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	14	cd04150	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	14	cd00877	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	14	cd01863	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	14	cd00154	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	14	cd04105	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	13	cd04156	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	13	cd00878	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	13	cd04160	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	13	cd04157	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	13	cd04151	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	13	cd04162	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Thr31Arg	VAR_027644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027644	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	13	cd04158	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	173	cd04155	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	191	pfam00025	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	161	smart00177	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	158	cd04149	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	204	cd04154	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	419	COG1100	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	174	cd04153	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	192	cd00879	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	159	cd04161	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	303	cd04159	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	203	pfam09439	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	266	cd04152	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	475	cd01881	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	752	cd00882	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	193	COG2229	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	180	smart00178	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	151	cd04150	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	183	cd00877	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	176	cd01863	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	410	cd00154	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	301	cd04105	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	153	cd04156	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	293	cd00878	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	246	cd04160	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	161	cd04157	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	149	cd04151	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	163	cd04162	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Gly169Ala	VAR_027645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027645	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	182	cd04158	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	174	cd04155	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	192	pfam00025	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	162	smart00177	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	159	cd04149	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	205	cd04154	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	420	COG1100	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	175	cd04153	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	193	cd00879	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	160	cd04161	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	304	cd04159	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	204	pfam09439	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	267	cd04152	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	476	cd01881	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	753	cd00882	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	194	COG2229	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	181	smart00178	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	152	cd04150	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	184	cd00877	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	177	cd01863	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	411	cd00154	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	336	cd04105	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	154	cd04156	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	294	cd00878	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	247	cd04160	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	162	cd04157	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	150	cd04151	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	164	cd04162	14149815,NP_115522|29826299,NP_816931
84100	14547903	Disease	p.Leu170Trp	VAR_027646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027646	- Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]	SWISS	183	cd04158	14149815,NP_115522|29826299,NP_816931
410	114221	Disease	p.Ala18Asp	VAR_054164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054164	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Asp29Asn	VAR_054165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054165	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Asp30His	VAR_054166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054166	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Gly32Ser	VAR_054167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054167	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Leu68Pro	VAR_054168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054168	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Pro82Leu	VAR_007244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007244	rs6151411 Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Arg84Gln	VAR_007245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007245	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Arg84Trp	VAR_054169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054169	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Gly86Asp	VAR_007246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007246	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Pro94Ala	VAR_054170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054170	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Ser95Asn	VAR_007247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007247	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Ser96Phe	VAR_007248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007248	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Ser96Leu	VAR_007249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007249	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Gly99Asp	VAR_007250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007250	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Gly99Val	VAR_054171	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054171	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Gly119Arg	VAR_007251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007251	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Gly122Ser	VAR_007252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007252	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Leu135Pro	VAR_007253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007253	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Pro136Leu	VAR_007254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007254	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Pro136Ser	VAR_054172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054172	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Arg143Gly	VAR_054174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054174	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Pro148Leu	VAR_054175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054175	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Asp152Tyr	VAR_007255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007255	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Gln153His	VAR_054176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054176	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Gly154Asp	VAR_007256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007256	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Pro155Leu	VAR_054177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054177	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Pro155Arg	VAR_007257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007257	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Cys156Arg	VAR_054178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054178	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Pro167Arg	VAR_007258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007258	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Asp169Asn	VAR_007259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007259	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Cys172Tyr	VAR_007260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007260	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Ile179Ser	VAR_007261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007261	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Leu181Gln	VAR_054179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054179	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Gln190His	VAR_054180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054180	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Pro191Thr	VAR_054181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054181	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Tyr201Cys	VAR_007263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007263	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Ala212Pro	VAR_054182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054182	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Ala212Val	VAR_007264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007264	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Arg217His	VAR_054183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054183	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Phe219Val	VAR_054184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054184	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Ala224Val	VAR_007265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007265	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.His227Tyr	VAR_054185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054185	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Pro231Thr	VAR_007266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007266	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Arg244Cys	VAR_007267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007267	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Arg244His	VAR_007268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007268	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Gly245Arg	VAR_007269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007269	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Phe247Ser	VAR_054186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054186	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Ser250Tyr	VAR_007270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007270	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Glu253Lys	VAR_054187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054187	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Asp255His	VAR_054188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054188	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Thr274Met	VAR_007271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007271	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Asp281Tyr	VAR_054189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054189	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Asn282Ser	VAR_054190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054190	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Thr286Pro	VAR_054191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054191	rs28940894 Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Arg288Cys	VAR_007272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007272	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Arg288His	VAR_054192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054192	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Gly293Asp	VAR_054193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054193	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Gly293Ser	VAR_054194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054194	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Cys294Tyr	VAR_054195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054195	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Ser295Tyr	VAR_007273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007273	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Leu298Ser	VAR_054196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054196	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Cys300Phe	VAR_008132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008132	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Lys302Asn	VAR_054197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054197	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Tyr306His	VAR_054198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054198	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Gly308Asp	VAR_054199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054199	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Gly308Val	VAR_054200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054200	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Gly309Ser	VAR_007274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007274	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Arg311Gln	VAR_007275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007275	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Glu312Asp	VAR_054201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054201	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Ala314Thr	VAR_007276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007276	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Gly325Ser	VAR_054202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054202	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Thr327Ile	VAR_054203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054203	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Asp335Val	VAR_007277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007277	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Lys367Asn	VAR_007279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007279	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Arg370Gln	VAR_007280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007280	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Arg370Trp	VAR_007281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007281	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Tyr376Asn	VAR_054204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054204	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Pro377Leu	VAR_007282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007282	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Asp381Glu	VAR_054205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054205	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Glu382Lys	VAR_007283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007283	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Arg384Cys	VAR_007284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007284	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Arg390Gln	VAR_007285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007285	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Arg390Trp	VAR_007286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007286	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.His397Tyr	VAR_007288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007288	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Thr408Ile	VAR_054206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054206	rs28940895 Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Thr409Ile	VAR_054207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054207	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Pro425Thr	VAR_008133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008133	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Pro426Leu	VAR_007291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007291	rs28940893 Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Leu428Pro	VAR_054208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054208	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Tyr429Ser	VAR_054209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054209	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Ala469Gly	VAR_054210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054210	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
410	114221	Disease	p.Cys489Gly	VAR_054211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054211	- Leukodystrophy metachromatic (MLD) [MIM:250100]	SWISS	No Domain	N/A	146229329,NP_001078895|146229324,NP_001078894|146229331,NP_001078896|6005990,NP_000478
411	114223	Disease	p.Ser65Phe	VAR_019017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019017	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	39	COG3119	38569405,NP_000037
411	114223	Disease	p.Ser65Phe	VAR_019017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019017	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	25	pfam00884	38569405,NP_000037
411	114223	Disease	p.Thr92Met	VAR_007294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007294	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	93	COG3119	38569405,NP_000037
411	114223	Disease	p.Thr92Met	VAR_007294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007294	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	89	pfam00884	38569405,NP_000037
411	114223	Disease	p.Arg95Gln	VAR_007295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007295	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	97	COG3119	38569405,NP_000037
411	114223	Disease	p.Arg95Gln	VAR_007295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007295	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	92	pfam00884	38569405,NP_000037
411	114223	Disease	p.Pro116His	VAR_019019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019019	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	129	COG3119	38569405,NP_000037
411	114223	Disease	p.Pro116His	VAR_019019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019019	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	113	pfam00884	38569405,NP_000037
411	114223	Disease	p.Cys117Arg	VAR_007296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007296	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	130	COG3119	38569405,NP_000037
411	114223	Disease	p.Cys117Arg	VAR_007296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007296	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	114	pfam00884	38569405,NP_000037
411	114223	Disease	p.Gly137Val	VAR_007297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007297	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	150	COG3119	38569405,NP_000037
411	114223	Disease	p.Gly137Val	VAR_007297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007297	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	143	pfam00884	38569405,NP_000037
411	114223	Disease	p.Met142Ile	VAR_019020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019020	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	155	COG3119	38569405,NP_000037
411	114223	Disease	p.Met142Ile	VAR_019020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019020	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	148	pfam00884	38569405,NP_000037
411	114223	Disease	p.Gly144Arg	VAR_019021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019021	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	157	COG3119	38569405,NP_000037
411	114223	Disease	p.Gly144Arg	VAR_019021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019021	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	150	pfam00884	38569405,NP_000037
411	114223	Disease	p.Trp146Leu	VAR_019022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019022	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	159	COG3119	38569405,NP_000037
411	114223	Disease	p.Trp146Leu	VAR_019022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019022	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	152	pfam00884	38569405,NP_000037
411	114223	Disease	p.Trp146Arg	VAR_019023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019023	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	159	COG3119	38569405,NP_000037
411	114223	Disease	p.Trp146Arg	VAR_019023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019023	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	152	pfam00884	38569405,NP_000037
411	114223	Disease	p.Trp146Ser	VAR_019024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019024	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	159	COG3119	38569405,NP_000037
411	114223	Disease	p.Trp146Ser	VAR_019024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019024	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	152	pfam00884	38569405,NP_000037
411	114223	Disease	p.Arg152Trp	VAR_007298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007298	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	178	COG3119	38569405,NP_000037
411	114223	Disease	p.Arg152Trp	VAR_007298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007298	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	158	pfam00884	38569405,NP_000037
411	114223	Disease	p.Arg160Gln	VAR_007299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007299	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	200	COG3119	38569405,NP_000037
411	114223	Disease	p.Arg160Gln	VAR_007299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007299	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	190	pfam00884	38569405,NP_000037
411	114223	Disease	p.Cys192Arg	VAR_019025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019025	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	235	COG3119	38569405,NP_000037
411	114223	Disease	p.Cys192Arg	VAR_019025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019025	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	223	pfam00884	38569405,NP_000037
411	114223	Disease	p.Tyr210Cys	VAR_007300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007300	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	270	COG3119	38569405,NP_000037
411	114223	Disease	p.Tyr210Cys	VAR_007300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007300	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	296	pfam00884	38569405,NP_000037
411	114223	Disease	p.Leu236Pro	VAR_007301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007301	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	315	COG3119	38569405,NP_000037
411	114223	Disease	p.Leu236Pro	VAR_007301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007301	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	326	pfam00884	38569405,NP_000037
411	114223	Disease	p.Gln239Arg	VAR_019026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019026	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	318	COG3119	38569405,NP_000037
411	114223	Disease	p.Gln239Arg	VAR_019026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019026	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	329	pfam00884	38569405,NP_000037
411	114223	Disease	p.Gly302Arg	VAR_007302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007302	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	406	COG3119	38569405,NP_000037
411	114223	Disease	p.Gly302Arg	VAR_007302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007302	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	481	pfam00884	38569405,NP_000037
411	114223	Disease	p.Trp312Cys	VAR_019027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019027	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	465	COG3119	38569405,NP_000037
411	114223	Disease	p.Trp312Cys	VAR_019027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019027	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	540	pfam00884	38569405,NP_000037
411	114223	Disease	p.Arg315Gln	VAR_019028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019028	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	468	COG3119	38569405,NP_000037
411	114223	Disease	p.Arg315Gln	VAR_019028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019028	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	543	pfam00884	38569405,NP_000037
411	114223	Disease	p.Leu321Pro	VAR_019029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019029	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	475	COG3119	38569405,NP_000037
411	114223	Disease	p.Leu321Pro	VAR_019029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019029	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	550	pfam00884	38569405,NP_000037
411	114223	Disease	p.Ser384Asn	VAR_019030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019030	rs25414 Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	541	COG3119	38569405,NP_000037
411	114223	Disease	p.Ser384Asn	VAR_019030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019030	rs25414 Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	652	pfam00884	38569405,NP_000037
411	114223	Disease	p.His393Pro	VAR_007304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007304	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	550	COG3119	38569405,NP_000037
411	114223	Disease	p.His393Pro	VAR_007304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007304	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	661	pfam00884	38569405,NP_000037
411	114223	Disease	p.Phe399Leu	VAR_019031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019031	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	551_G	COG3119	38569405,NP_000037
411	114223	Disease	p.Phe399Leu	VAR_019031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019031	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	667	pfam00884	38569405,NP_000037
411	114223	Disease	p.Cys405Tyr	VAR_007305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007305	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	551_G	COG3119	38569405,NP_000037
411	114223	Disease	p.Cys405Tyr	VAR_007305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007305	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	692	pfam00884	38569405,NP_000037
411	114223	Disease	p.Arg484Gly	VAR_019032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019032	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	646	COG3119	38569405,NP_000037
411	114223	Disease	p.Arg484Gly	VAR_019032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019032	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	809	pfam00884	38569405,NP_000037
411	114223	Disease	p.Leu498Pro	VAR_007306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007306	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	689	COG3119	38569405,NP_000037
411	114223	Disease	p.Cys521Tyr	VAR_019033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019033	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	No Domain	N/A	38569405,NP_000037
411	114223	Disease	p.Pro531Arg	VAR_019034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019034	- Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]	SWISS	No Domain	N/A	38569405,NP_000037
415	77416850	Disease	p.Arg12Ser	VAR_007307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007307	- Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]	SWISS	No Domain	N/A	157266309,NP_000038
415	77416850	Disease	p.Ile80Asn	VAR_023570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023570	- Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]	SWISS	80	pfam00884	157266309,NP_000038
415	77416850	Disease	p.Ile80Asn	VAR_023570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023570	- Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]	SWISS	87	COG3119	157266309,NP_000038
415	77416850	Disease	p.Arg111Pro	VAR_007308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007308	- Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]	SWISS	113	pfam00884	157266309,NP_000038
415	77416850	Disease	p.Arg111Pro	VAR_007308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007308	- Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]	SWISS	118	COG3119	157266309,NP_000038
415	77416850	Disease	p.Gly117Arg	VAR_007309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007309	- Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]	SWISS	122	pfam00884	157266309,NP_000038
415	77416850	Disease	p.Gly117Arg	VAR_007309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007309	- Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]	SWISS	130	COG3119	157266309,NP_000038
415	77416850	Disease	p.Gly137Val	VAR_007310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007310	- Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]	SWISS	143	pfam00884	157266309,NP_000038
415	77416850	Disease	p.Gly137Val	VAR_007310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007310	- Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]	SWISS	150	COG3119	157266309,NP_000038
415	77416850	Disease	p.Gly245Arg	VAR_007311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007311	- Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]	SWISS	273	pfam00884	157266309,NP_000038
415	77416850	Disease	p.Gly245Arg	VAR_007311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007311	- Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]	SWISS	273	COG3119	157266309,NP_000038
415	77416850	Disease	p.Thr481Met	VAR_023571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023571	- Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]	SWISS	766	pfam00884	157266309,NP_000038
415	77416850	Disease	p.Thr481Met	VAR_023571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023571	- Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]	SWISS	597	COG3119	157266309,NP_000038
415	77416850	Disease	p.Cys492Tyr	VAR_007312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007312	- Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]	SWISS	777	pfam00884	157266309,NP_000038
415	77416850	Disease	p.Cys492Tyr	VAR_007312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007312	- Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]	SWISS	614	COG3119	157266309,NP_000038
415	77416850	Disease	p.Pro578Ser	VAR_023572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023572	rs28935474 Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]	SWISS	No Domain	N/A	157266309,NP_000038
170302	27923733	Disease	p.Arg332His	VAR_015178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015178	rs28936075 Lissencephaly X-linked type 2 (LISX2) [MIM:300215]	SWISS	55	COG5576	24497589,NP_620689
170302	27923733	Disease	p.Arg332His	VAR_015178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015178	rs28936075 Lissencephaly X-linked type 2 (LISX2) [MIM:300215]	SWISS	4	smart00389	24497589,NP_620689
170302	27923733	Disease	p.Arg332His	VAR_015178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015178	rs28936075 Lissencephaly X-linked type 2 (LISX2) [MIM:300215]	SWISS	4	cd00086	24497589,NP_620689
170302	27923733	Disease	p.Arg332His	VAR_015178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015178	rs28936075 Lissencephaly X-linked type 2 (LISX2) [MIM:300215]	SWISS	4	pfam00046	24497589,NP_620689
170302	27923733	Disease	p.Arg332Pro	VAR_033260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033260	- Lissencephaly X-linked type 2 (LISX2) [MIM:300215]	SWISS	55	COG5576	24497589,NP_620689
170302	27923733	Disease	p.Arg332Pro	VAR_033260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033260	- Lissencephaly X-linked type 2 (LISX2) [MIM:300215]	SWISS	4	smart00389	24497589,NP_620689
170302	27923733	Disease	p.Arg332Pro	VAR_033260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033260	- Lissencephaly X-linked type 2 (LISX2) [MIM:300215]	SWISS	4	cd00086	24497589,NP_620689
170302	27923733	Disease	p.Arg332Pro	VAR_033260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033260	- Lissencephaly X-linked type 2 (LISX2) [MIM:300215]	SWISS	4	pfam00046	24497589,NP_620689
170302	27923733	Disease	p.Thr333Asn	VAR_033261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033261	rs28936078 Agenesis of the corpus callosum with abnormal genitalia (ACCAG) [MIM:300004]	SWISS	56	COG5576	24497589,NP_620689
170302	27923733	Disease	p.Thr333Asn	VAR_033261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033261	rs28936078 Agenesis of the corpus callosum with abnormal genitalia (ACCAG) [MIM:300004]	SWISS	5	smart00389	24497589,NP_620689
170302	27923733	Disease	p.Thr333Asn	VAR_033261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033261	rs28936078 Agenesis of the corpus callosum with abnormal genitalia (ACCAG) [MIM:300004]	SWISS	5	cd00086	24497589,NP_620689
170302	27923733	Disease	p.Thr333Asn	VAR_033261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033261	rs28936078 Agenesis of the corpus callosum with abnormal genitalia (ACCAG) [MIM:300004]	SWISS	5	pfam00046	24497589,NP_620689
170302	27923733	Disease	p.Leu343Gln	VAR_015179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015179	rs28936076 Lissencephaly X-linked type 2 (LISX2) [MIM:300215]	SWISS	66	COG5576	24497589,NP_620689
170302	27923733	Disease	p.Leu343Gln	VAR_015179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015179	rs28936076 Lissencephaly X-linked type 2 (LISX2) [MIM:300215]	SWISS	20	smart00389	24497589,NP_620689
170302	27923733	Disease	p.Leu343Gln	VAR_015179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015179	rs28936076 Lissencephaly X-linked type 2 (LISX2) [MIM:300215]	SWISS	15	cd00086	24497589,NP_620689
170302	27923733	Disease	p.Leu343Gln	VAR_015179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015179	rs28936076 Lissencephaly X-linked type 2 (LISX2) [MIM:300215]	SWISS	15	pfam00046	24497589,NP_620689
170302	27923733	Disease	p.Pro353Leu	VAR_015180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015180	rs28936074 Epileptic encephalopathy early infantile type 1 (EIEE1) [MIM:308350]	SWISS	76	COG5576	24497589,NP_620689
170302	27923733	Disease	p.Pro353Leu	VAR_015180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015180	rs28936074 Epileptic encephalopathy early infantile type 1 (EIEE1) [MIM:308350]	SWISS	44	smart00389	24497589,NP_620689
170302	27923733	Disease	p.Pro353Leu	VAR_015180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015180	rs28936074 Epileptic encephalopathy early infantile type 1 (EIEE1) [MIM:308350]	SWISS	36	cd00086	24497589,NP_620689
170302	27923733	Disease	p.Pro353Leu	VAR_015180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015180	rs28936074 Epileptic encephalopathy early infantile type 1 (EIEE1) [MIM:308350]	SWISS	30	pfam00046	24497589,NP_620689
170302	27923733	Disease	p.Pro353Arg	VAR_033262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033262	- Lissencephaly X-linked type 2 (LISX2) [MIM:300215]	SWISS	76	COG5576	24497589,NP_620689
170302	27923733	Disease	p.Pro353Arg	VAR_033262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033262	- Lissencephaly X-linked type 2 (LISX2) [MIM:300215]	SWISS	44	smart00389	24497589,NP_620689
170302	27923733	Disease	p.Pro353Arg	VAR_033262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033262	- Lissencephaly X-linked type 2 (LISX2) [MIM:300215]	SWISS	36	cd00086	24497589,NP_620689
170302	27923733	Disease	p.Pro353Arg	VAR_033262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033262	- Lissencephaly X-linked type 2 (LISX2) [MIM:300215]	SWISS	30	pfam00046	24497589,NP_620689
170302	27923733	Disease	p.Ala521Thr	VAR_033263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033263	- Lissencephaly X-linked type 2 (LISX2) [MIM:300215]	SWISS	No Domain	N/A	24497589,NP_620689
427	239938949	Disease	p.Gln22His	VAR_038166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038166	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	No Domain	N/A	189011548,NP_808592
427	239938949	Disease	p.His23Asp	VAR_038167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038167	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	No Domain	N/A	189011548,NP_808592
427	239938949	Disease	p.Tyr36Cys	VAR_021579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021579	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	No Domain	N/A	189011548,NP_808592
427	239938949	Disease	p.Val97Glu	VAR_021581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021581	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	No Domain	N/A	189011548,NP_808592
427	239938949	Disease	p.Glu138Val	VAR_021582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021582	rs28934273 Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	5	cd01903	189011548,NP_808592
427	239938949	Disease	p.Leu182Val	VAR_038169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038169	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	59	cd01903	189011548,NP_808592
427	239938949	Disease	p.Leu182Val	VAR_038169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038169	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	43	cd01901	189011548,NP_808592
427	239938949	Disease	p.Leu182Val	VAR_038169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038169	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	43	cd01935	189011548,NP_808592
427	239938949	Disease	p.Leu182Val	VAR_038169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038169	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	40	pfam02275	189011548,NP_808592
427	239938949	Disease	p.Thr222Lys	VAR_008862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008862	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	99	cd01903	189011548,NP_808592
427	239938949	Disease	p.Thr222Lys	VAR_008862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008862	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	107	cd01901	189011548,NP_808592
427	239938949	Disease	p.Thr222Lys	VAR_008862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008862	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	107	cd01935	189011548,NP_808592
427	239938949	Disease	p.Thr222Lys	VAR_008862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008862	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	95	pfam02275	189011548,NP_808592
427	239938949	Disease	p.Gly235Arg	VAR_021583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021583	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	112	cd01903	189011548,NP_808592
427	239938949	Disease	p.Gly235Arg	VAR_021583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021583	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	120	cd01901	189011548,NP_808592
427	239938949	Disease	p.Gly235Arg	VAR_021583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021583	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	120	cd01935	189011548,NP_808592
427	239938949	Disease	p.Gly235Arg	VAR_021583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021583	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	112	pfam02275	189011548,NP_808592
427	239938949	Disease	p.Arg254Gly	VAR_021584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021584	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	132	cd01903	189011548,NP_808592
427	239938949	Disease	p.Arg254Gly	VAR_021584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021584	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	222	cd01901	189011548,NP_808592
427	239938949	Disease	p.Arg254Gly	VAR_021584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021584	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	140	cd01935	189011548,NP_808592
427	239938949	Disease	p.Arg254Gly	VAR_021584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021584	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	134	pfam02275	189011548,NP_808592
427	239938949	Disease	p.Asn320Asp	VAR_021585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021585	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	199	cd01903	189011548,NP_808592
427	239938949	Disease	p.Asn320Asp	VAR_021585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021585	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	487	cd01901	189011548,NP_808592
427	239938949	Disease	p.Asn320Asp	VAR_021585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021585	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	237	cd01935	189011548,NP_808592
427	239938949	Disease	p.Asn320Asp	VAR_021585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021585	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	224	pfam02275	189011548,NP_808592
427	239938949	Disease	p.Pro362Arg	VAR_021586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021586	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	242	cd01903	189011548,NP_808592
427	239938949	Disease	p.Pro362Arg	VAR_021586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021586	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	355	cd01935	189011548,NP_808592
427	239938949	Disease	p.Pro362Arg	VAR_021586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021586	- Farber lipogranulomatosis (FL) [MIM:228000]	SWISS	299	pfam02275	189011548,NP_808592
435	124028641	Disease	p.Asp31Asn	VAR_043106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043106	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	5	cd01359	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Asp31Asn	VAR_043106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043106	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	21	pfam00206	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Asp31Asn	VAR_043106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043106	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	16	COG0015	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Asp31Asn	VAR_043106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043106	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	30	COG0165	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg95Cys	VAR_000676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000676	rs28940585 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	81	cd01334	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg95Cys	VAR_000676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000676	rs28940585 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	74	cd01594	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg95Cys	VAR_000676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000676	rs28940585 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	79	cd01359	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg95Cys	VAR_000676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000676	rs28940585 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	97	pfam00206	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg95Cys	VAR_000676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000676	rs28940585 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	101	COG0015	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg95Cys	VAR_000676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000676	rs28940585 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	59	cd01597	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg95Cys	VAR_000676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000676	rs28940585 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	96	COG0165	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg95Cys	VAR_000676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000676	rs28940585 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	50	cd01360	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg95Cys	VAR_000676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000676	rs28940585 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	97	cd01595	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg111Trp	VAR_000677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000677	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	112	cd01334	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg111Trp	VAR_000677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000677	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	156	cd01594	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg111Trp	VAR_000677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000677	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	96	cd01359	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg111Trp	VAR_000677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000677	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	130	pfam00206	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg111Trp	VAR_000677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000677	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	123	COG0015	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg111Trp	VAR_000677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000677	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	88	cd01597	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg111Trp	VAR_000677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000677	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	113	COG0165	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg111Trp	VAR_000677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000677	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	105	cd01360	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg111Trp	VAR_000677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000677	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	124	cd01595	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg113Gln	VAR_043107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043107	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	114	cd01334	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg113Gln	VAR_043107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043107	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	158	cd01594	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg113Gln	VAR_043107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043107	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	98	cd01359	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg113Gln	VAR_043107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043107	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	132	pfam00206	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg113Gln	VAR_043107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043107	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	125	COG0015	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg113Gln	VAR_043107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043107	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	90	cd01597	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg113Gln	VAR_043107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043107	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	115	COG0165	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg113Gln	VAR_043107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043107	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	107	cd01360	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg113Gln	VAR_043107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043107	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	126	cd01595	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Val178Met	VAR_017572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017572	rs28941473 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	182	cd01334	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Val178Met	VAR_017572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017572	rs28941473 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	300	cd01594	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Val178Met	VAR_017572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017572	rs28941473 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	165	cd01359	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Val178Met	VAR_017572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017572	rs28941473 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	198	pfam00206	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Val178Met	VAR_017572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017572	rs28941473 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	191	COG0015	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Val178Met	VAR_017572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017572	rs28941473 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	175	cd01597	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Val178Met	VAR_017572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017572	rs28941473 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	183	COG0165	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Val178Met	VAR_017572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017572	rs28941473 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	172	cd01360	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Val178Met	VAR_017572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017572	rs28941473 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	193	cd01595	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg186Gln	VAR_043108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043108	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	190	cd01334	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg186Gln	VAR_043108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043108	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	308	cd01594	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg186Gln	VAR_043108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043108	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	173	cd01359	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg186Gln	VAR_043108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043108	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	206	pfam00206	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg186Gln	VAR_043108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043108	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	199	COG0015	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg186Gln	VAR_043108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043108	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	183	cd01597	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg186Gln	VAR_043108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043108	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	191	COG0165	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg186Gln	VAR_043108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043108	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	180	cd01360	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg186Gln	VAR_043108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043108	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	201	cd01595	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg193Gln	VAR_000678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000678	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	197	cd01334	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg193Gln	VAR_000678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000678	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	315	cd01594	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg193Gln	VAR_000678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000678	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	180	cd01359	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg193Gln	VAR_000678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000678	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	213	pfam00206	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg193Gln	VAR_000678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000678	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	206	COG0015	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg193Gln	VAR_000678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000678	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	190	cd01597	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg193Gln	VAR_000678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000678	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	198	COG0165	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg193Gln	VAR_000678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000678	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	187	cd01360	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg193Gln	VAR_000678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000678	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	208	cd01595	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg236Trp	VAR_043109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043109	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	262	cd01334	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg236Trp	VAR_043109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043109	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	376	cd01594	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg236Trp	VAR_043109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043109	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	226	cd01359	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg236Trp	VAR_043109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043109	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	267	pfam00206	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg236Trp	VAR_043109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043109	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	264	COG0015	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg236Trp	VAR_043109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043109	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	242	cd01597	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg236Trp	VAR_043109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043109	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	241	COG0165	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg236Trp	VAR_043109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043109	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	233	cd01360	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg236Trp	VAR_043109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043109	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	264	cd01595	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Gln286Arg	VAR_000679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000679	rs28941472 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	317	cd01334	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Gln286Arg	VAR_000679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000679	rs28941472 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	435	cd01594	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Gln286Arg	VAR_000679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000679	rs28941472 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	278	cd01359	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Gln286Arg	VAR_000679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000679	rs28941472 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	321	pfam00206	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Gln286Arg	VAR_000679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000679	rs28941472 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	316	COG0015	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Gln286Arg	VAR_000679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000679	rs28941472 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	293	cd01597	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Gln286Arg	VAR_000679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000679	rs28941472 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	292	COG0165	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Gln286Arg	VAR_000679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000679	rs28941472 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	285	cd01360	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Gln286Arg	VAR_000679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000679	rs28941472 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	316	cd01595	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Val335Leu	VAR_043110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043110	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	367	cd01334	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Val335Leu	VAR_043110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043110	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	485	cd01594	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Val335Leu	VAR_043110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043110	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	328	cd01359	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Val335Leu	VAR_043110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043110	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	366	COG0015	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Val335Leu	VAR_043110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043110	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	343	cd01597	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Val335Leu	VAR_043110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043110	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	343	COG0165	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Val335Leu	VAR_043110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043110	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	334	cd01360	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Val335Leu	VAR_043110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043110	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	366	cd01595	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg379Cys	VAR_017573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017573	rs28940287 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	380	cd01359	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg379Cys	VAR_017573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017573	rs28940287 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	414	COG0015	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg379Cys	VAR_017573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017573	rs28940287 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	418	cd01597	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg379Cys	VAR_017573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017573	rs28940287 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	389	COG0165	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg379Cys	VAR_017573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017573	rs28940287 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	381	cd01360	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg379Cys	VAR_017573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017573	rs28940287 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	418	cd01595	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Met382Arg	VAR_043111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043111	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	384	cd01359	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Met382Arg	VAR_043111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043111	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	418	COG0015	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Met382Arg	VAR_043111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043111	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	425	cd01597	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Met382Arg	VAR_043111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043111	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	393	COG0165	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Met382Arg	VAR_043111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043111	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	384	cd01360	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Met382Arg	VAR_043111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043111	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	427	cd01595	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg385Cys	VAR_017574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017574	rs28940286 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	387	cd01359	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg385Cys	VAR_017574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017574	rs28940286 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	421	COG0015	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg385Cys	VAR_017574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017574	rs28940286 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	428	cd01597	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg385Cys	VAR_017574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017574	rs28940286 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	396	COG0165	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg385Cys	VAR_017574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017574	rs28940286 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	389	cd01360	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg385Cys	VAR_017574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017574	rs28940286 Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	430	cd01595	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg456Trp	VAR_043112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043112	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	488	cd01359	31541964,NP_000039|68303542,NP_001020114
435	124028641	Disease	p.Arg456Trp	VAR_043112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043112	- Arginosuccinicaciduria (ARGINSA) [MIM:207900]	SWISS	483	COG0165	31541964,NP_000039|68303542,NP_001020114
443	1168340	Disease	p.Ile16Thr	VAR_039079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039079	- Canavan disease (CAND) [MIM:271900]	SWISS	53	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ile16Thr	VAR_039079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039079	- Canavan disease (CAND) [MIM:271900]	SWISS	7	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ile16Thr	VAR_039079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039079	- Canavan disease (CAND) [MIM:271900]	SWISS	5	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ile16Thr	VAR_039079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039079	- Canavan disease (CAND) [MIM:271900]	SWISS	3	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ile16Thr	VAR_039079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039079	- Canavan disease (CAND) [MIM:271900]	SWISS	3	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.His21Pro	VAR_016778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016778	- Canavan disease (CAND) [MIM:271900]	SWISS	58	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.His21Pro	VAR_016778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016778	- Canavan disease (CAND) [MIM:271900]	SWISS	12	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.His21Pro	VAR_016778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016778	- Canavan disease (CAND) [MIM:271900]	SWISS	10	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.His21Pro	VAR_016778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016778	- Canavan disease (CAND) [MIM:271900]	SWISS	8	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.His21Pro	VAR_016778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016778	- Canavan disease (CAND) [MIM:271900]	SWISS	8	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu24Gly	VAR_016782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016782	- Canavan disease (CAND) [MIM:271900]	SWISS	61	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu24Gly	VAR_016782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016782	- Canavan disease (CAND) [MIM:271900]	SWISS	15	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu24Gly	VAR_016782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016782	- Canavan disease (CAND) [MIM:271900]	SWISS	13	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu24Gly	VAR_016782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016782	- Canavan disease (CAND) [MIM:271900]	SWISS	11	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu24Gly	VAR_016782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016782	- Canavan disease (CAND) [MIM:271900]	SWISS	11	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Gly27Arg	VAR_039080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039080	- Canavan disease (CAND) [MIM:271900]	SWISS	64	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Gly27Arg	VAR_039080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039080	- Canavan disease (CAND) [MIM:271900]	SWISS	18	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Gly27Arg	VAR_039080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039080	- Canavan disease (CAND) [MIM:271900]	SWISS	16	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Gly27Arg	VAR_039080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039080	- Canavan disease (CAND) [MIM:271900]	SWISS	14	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Gly27Arg	VAR_039080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039080	- Canavan disease (CAND) [MIM:271900]	SWISS	14	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ala57Thr	VAR_016779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016779	- Canavan disease (CAND) [MIM:271900]	SWISS	95	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ala57Thr	VAR_016779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016779	- Canavan disease (CAND) [MIM:271900]	SWISS	52	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ala57Thr	VAR_016779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016779	- Canavan disease (CAND) [MIM:271900]	SWISS	48	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ala57Thr	VAR_016779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016779	- Canavan disease (CAND) [MIM:271900]	SWISS	68	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ala57Thr	VAR_016779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016779	- Canavan disease (CAND) [MIM:271900]	SWISS	54	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp68Ala	VAR_016783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016783	- Canavan disease (CAND) [MIM:271900]	SWISS	106	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp68Ala	VAR_016783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016783	- Canavan disease (CAND) [MIM:271900]	SWISS	77	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp68Ala	VAR_016783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016783	- Canavan disease (CAND) [MIM:271900]	SWISS	59	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp68Ala	VAR_016783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016783	- Canavan disease (CAND) [MIM:271900]	SWISS	167	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp68Ala	VAR_016783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016783	- Canavan disease (CAND) [MIM:271900]	SWISS	76	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp114Glu	VAR_039081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039081	- Canavan disease (CAND) [MIM:271900]	SWISS	153	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp114Glu	VAR_039081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039081	- Canavan disease (CAND) [MIM:271900]	SWISS	146	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp114Glu	VAR_039081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039081	- Canavan disease (CAND) [MIM:271900]	SWISS	107	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp114Glu	VAR_039081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039081	- Canavan disease (CAND) [MIM:271900]	SWISS	321	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp114Glu	VAR_039081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039081	- Canavan disease (CAND) [MIM:271900]	SWISS	143	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp114Tyr	VAR_016784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016784	- Canavan disease (CAND) [MIM:271900]	SWISS	153	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp114Tyr	VAR_016784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016784	- Canavan disease (CAND) [MIM:271900]	SWISS	146	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp114Tyr	VAR_016784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016784	- Canavan disease (CAND) [MIM:271900]	SWISS	107	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp114Tyr	VAR_016784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016784	- Canavan disease (CAND) [MIM:271900]	SWISS	321	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp114Tyr	VAR_016784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016784	- Canavan disease (CAND) [MIM:271900]	SWISS	143	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Gly123Glu	VAR_039082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039082	- Canavan disease (CAND) [MIM:271900]	SWISS	162	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Gly123Glu	VAR_039082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039082	- Canavan disease (CAND) [MIM:271900]	SWISS	155	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Gly123Glu	VAR_039082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039082	- Canavan disease (CAND) [MIM:271900]	SWISS	116	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Gly123Glu	VAR_039082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039082	- Canavan disease (CAND) [MIM:271900]	SWISS	338	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Gly123Glu	VAR_039082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039082	- Canavan disease (CAND) [MIM:271900]	SWISS	154	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ile143Thr	VAR_004995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004995	- Canavan disease (CAND) [MIM:271900]	SWISS	185	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ile143Thr	VAR_004995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004995	- Canavan disease (CAND) [MIM:271900]	SWISS	178	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ile143Thr	VAR_004995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004995	- Canavan disease (CAND) [MIM:271900]	SWISS	136	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ile143Thr	VAR_004995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004995	- Canavan disease (CAND) [MIM:271900]	SWISS	396	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ile143Thr	VAR_004995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004995	- Canavan disease (CAND) [MIM:271900]	SWISS	185	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Arg	VAR_004996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004996	- Canavan disease (CAND) [MIM:271900]	SWISS	191	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Arg	VAR_004996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004996	- Canavan disease (CAND) [MIM:271900]	SWISS	189	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Arg	VAR_004996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004996	- Canavan disease (CAND) [MIM:271900]	SWISS	147	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Arg	VAR_004996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004996	- Canavan disease (CAND) [MIM:271900]	SWISS	439	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Arg	VAR_004996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004996	- Canavan disease (CAND) [MIM:271900]	SWISS	199	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Trp	VAR_016785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016785	- Canavan disease (CAND) [MIM:271900]	SWISS	191	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Trp	VAR_016785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016785	- Canavan disease (CAND) [MIM:271900]	SWISS	189	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Trp	VAR_016785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016785	- Canavan disease (CAND) [MIM:271900]	SWISS	147	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Trp	VAR_016785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016785	- Canavan disease (CAND) [MIM:271900]	SWISS	439	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Trp	VAR_016785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016785	- Canavan disease (CAND) [MIM:271900]	SWISS	199	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Tyr	VAR_039083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039083	- Canavan disease (CAND) [MIM:271900]	SWISS	191	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Tyr	VAR_039083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039083	- Canavan disease (CAND) [MIM:271900]	SWISS	189	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Tyr	VAR_039083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039083	- Canavan disease (CAND) [MIM:271900]	SWISS	147	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Tyr	VAR_039083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039083	- Canavan disease (CAND) [MIM:271900]	SWISS	439	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Cys152Tyr	VAR_039083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039083	- Canavan disease (CAND) [MIM:271900]	SWISS	199	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Arg168Cys	VAR_039084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039084	- Canavan disease (CAND) [MIM:271900]	SWISS	207	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Arg168Cys	VAR_039084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039084	- Canavan disease (CAND) [MIM:271900]	SWISS	218	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Arg168Cys	VAR_039084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039084	- Canavan disease (CAND) [MIM:271900]	SWISS	168	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Arg168Cys	VAR_039084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039084	- Canavan disease (CAND) [MIM:271900]	SWISS	462	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Arg168Cys	VAR_039084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039084	- Canavan disease (CAND) [MIM:271900]	SWISS	246	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Arg168His	VAR_016780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016780	- Canavan disease (CAND) [MIM:271900]	SWISS	207	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Arg168His	VAR_016780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016780	- Canavan disease (CAND) [MIM:271900]	SWISS	218	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Arg168His	VAR_016780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016780	- Canavan disease (CAND) [MIM:271900]	SWISS	168	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Arg168His	VAR_016780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016780	- Canavan disease (CAND) [MIM:271900]	SWISS	462	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Arg168His	VAR_016780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016780	- Canavan disease (CAND) [MIM:271900]	SWISS	246	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Pro181Thr	VAR_016781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016781	- Canavan disease (CAND) [MIM:271900]	SWISS	222	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Pro181Thr	VAR_016781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016781	- Canavan disease (CAND) [MIM:271900]	SWISS	233	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Pro181Thr	VAR_016781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016781	- Canavan disease (CAND) [MIM:271900]	SWISS	189	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Pro181Thr	VAR_016781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016781	- Canavan disease (CAND) [MIM:271900]	SWISS	502	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Pro181Thr	VAR_016781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016781	- Canavan disease (CAND) [MIM:271900]	SWISS	264	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Pro183His	VAR_039085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039085	- Canavan disease (CAND) [MIM:271900]	SWISS	224	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Pro183His	VAR_039085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039085	- Canavan disease (CAND) [MIM:271900]	SWISS	235	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Pro183His	VAR_039085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039085	- Canavan disease (CAND) [MIM:271900]	SWISS	191	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Pro183His	VAR_039085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039085	- Canavan disease (CAND) [MIM:271900]	SWISS	504	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Pro183His	VAR_039085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039085	- Canavan disease (CAND) [MIM:271900]	SWISS	266	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Val186Phe	VAR_039086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039086	- Canavan disease (CAND) [MIM:271900]	SWISS	227	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Val186Phe	VAR_039086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039086	- Canavan disease (CAND) [MIM:271900]	SWISS	238	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Val186Phe	VAR_039086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039086	- Canavan disease (CAND) [MIM:271900]	SWISS	194	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Val186Phe	VAR_039086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039086	- Canavan disease (CAND) [MIM:271900]	SWISS	533	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Val186Phe	VAR_039086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039086	- Canavan disease (CAND) [MIM:271900]	SWISS	269	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Met195Arg	VAR_039087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039087	- Canavan disease (CAND) [MIM:271900]	SWISS	236	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Met195Arg	VAR_039087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039087	- Canavan disease (CAND) [MIM:271900]	SWISS	247	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Met195Arg	VAR_039087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039087	- Canavan disease (CAND) [MIM:271900]	SWISS	203	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Met195Arg	VAR_039087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039087	- Canavan disease (CAND) [MIM:271900]	SWISS	542	cd00596	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Met195Arg	VAR_039087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039087	- Canavan disease (CAND) [MIM:271900]	SWISS	282	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Tyr231Cys	VAR_016786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016786	- Canavan disease (CAND) [MIM:271900]	SWISS	274	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Tyr231Cys	VAR_016786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016786	- Canavan disease (CAND) [MIM:271900]	SWISS	289	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Tyr231Cys	VAR_016786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016786	- Canavan disease (CAND) [MIM:271900]	SWISS	243	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Tyr231Cys	VAR_016786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016786	- Canavan disease (CAND) [MIM:271900]	SWISS	335	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.His244Arg	VAR_016787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016787	- Canavan disease (CAND) [MIM:271900]	SWISS	287	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.His244Arg	VAR_016787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016787	- Canavan disease (CAND) [MIM:271900]	SWISS	302	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.His244Arg	VAR_016787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016787	- Canavan disease (CAND) [MIM:271900]	SWISS	257	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.His244Arg	VAR_016787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016787	- Canavan disease (CAND) [MIM:271900]	SWISS	350	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp249Val	VAR_016788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016788	- Canavan disease (CAND) [MIM:271900]	SWISS	292	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp249Val	VAR_016788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016788	- Canavan disease (CAND) [MIM:271900]	SWISS	310	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp249Val	VAR_016788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016788	- Canavan disease (CAND) [MIM:271900]	SWISS	262	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Asp249Val	VAR_016788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016788	- Canavan disease (CAND) [MIM:271900]	SWISS	373	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Gly274Arg	VAR_004998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004998	- Canavan disease (CAND) [MIM:271900]	SWISS	317	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Gly274Arg	VAR_004998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004998	- Canavan disease (CAND) [MIM:271900]	SWISS	335	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Gly274Arg	VAR_004998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004998	- Canavan disease (CAND) [MIM:271900]	SWISS	287	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Gly274Arg	VAR_004998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004998	- Canavan disease (CAND) [MIM:271900]	SWISS	411	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Pro280Leu	VAR_039088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039088	- Canavan disease (CAND) [MIM:271900]	SWISS	323	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Pro280Leu	VAR_039088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039088	- Canavan disease (CAND) [MIM:271900]	SWISS	344	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Pro280Leu	VAR_039088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039088	- Canavan disease (CAND) [MIM:271900]	SWISS	300	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Pro280Leu	VAR_039088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039088	- Canavan disease (CAND) [MIM:271900]	SWISS	425	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Pro280Ser	VAR_039089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039089	- Canavan disease (CAND) [MIM:271900]	SWISS	323	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Pro280Ser	VAR_039089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039089	- Canavan disease (CAND) [MIM:271900]	SWISS	344	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Pro280Ser	VAR_039089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039089	- Canavan disease (CAND) [MIM:271900]	SWISS	300	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Pro280Ser	VAR_039089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039089	- Canavan disease (CAND) [MIM:271900]	SWISS	425	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu285Ala	VAR_004999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004999	rs28940279 Canavan disease (CAND) [MIM:271900]	SWISS	328	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu285Ala	VAR_004999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004999	rs28940279 Canavan disease (CAND) [MIM:271900]	SWISS	349	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu285Ala	VAR_004999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004999	rs28940279 Canavan disease (CAND) [MIM:271900]	SWISS	305	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Glu285Ala	VAR_004999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004999	rs28940279 Canavan disease (CAND) [MIM:271900]	SWISS	430	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ala287Thr	VAR_039090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039090	- Canavan disease (CAND) [MIM:271900]	SWISS	330	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ala287Thr	VAR_039090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039090	- Canavan disease (CAND) [MIM:271900]	SWISS	351	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ala287Thr	VAR_039090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039090	- Canavan disease (CAND) [MIM:271900]	SWISS	307	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ala287Thr	VAR_039090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039090	- Canavan disease (CAND) [MIM:271900]	SWISS	432	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Phe295Ser	VAR_005000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005000	- Canavan disease (CAND) [MIM:271900]	SWISS	338	COG2988	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Phe295Ser	VAR_005000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005000	- Canavan disease (CAND) [MIM:271900]	SWISS	359	pfam04952	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Phe295Ser	VAR_005000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005000	- Canavan disease (CAND) [MIM:271900]	SWISS	317	cd06909	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Phe295Ser	VAR_005000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005000	- Canavan disease (CAND) [MIM:271900]	SWISS	443	cd06230	189339202,NP_001121557|4557335,NP_000040
443	1168340	Disease	p.Ala305Glu	VAR_005001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005001	rs28940574 Canavan disease (CAND) [MIM:271900]	SWISS	No Domain	N/A	189339202,NP_001121557|4557335,NP_000040
445	20141195	Disease	p.Gly14Ser	VAR_000681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000681	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	7	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly14Ser	VAR_000681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000681	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	14	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly14Ser	VAR_000681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000681	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	8	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly14Ser	VAR_000681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000681	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	34	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly14Ser	VAR_000681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000681	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	8	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser18Leu	VAR_000682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000682	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	11	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser18Leu	VAR_000682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000682	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	18	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser18Leu	VAR_000682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000682	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	12	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser18Leu	VAR_000682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000682	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	38	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser18Leu	VAR_000682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000682	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	12	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Cys19Arg	VAR_015891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015891	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	12	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Cys19Arg	VAR_015891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015891	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	19	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Cys19Arg	VAR_015891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015891	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	13	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Cys19Arg	VAR_015891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015891	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	39	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Cys19Arg	VAR_015891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015891	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	13	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gln40Leu	VAR_058337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058337	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	35	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gln40Leu	VAR_058337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058337	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	42	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gln40Leu	VAR_058337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058337	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	36	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gln40Leu	VAR_058337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058337	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	74	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gln40Leu	VAR_058337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058337	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	48	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Val69Ala	VAR_016013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016013	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	65	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Val69Ala	VAR_016013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016013	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	75	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Val69Ala	VAR_016013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016013	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	67	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Val69Ala	VAR_016013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016013	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	113	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Val69Ala	VAR_016013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016013	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	85_G	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser79Pro	VAR_058338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058338	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	75	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser79Pro	VAR_058338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058338	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	85	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser79Pro	VAR_058338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058338	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	79	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser79Pro	VAR_058338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058338	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	123	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser79Pro	VAR_058338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058338	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	95	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg86Cys	VAR_000683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000683	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	82	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg86Cys	VAR_000683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000683	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	92	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg86Cys	VAR_000683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000683	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	90	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg86Cys	VAR_000683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000683	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	130	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg86Cys	VAR_000683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000683	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	134	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg86His	VAR_015892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015892	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	82	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg86His	VAR_015892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015892	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	92	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg86His	VAR_015892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015892	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	90	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg86His	VAR_015892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015892	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	130	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg86His	VAR_015892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015892	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	134	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg95Ser	VAR_015893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015893	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	91	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg95Ser	VAR_015893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015893	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	104	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg95Ser	VAR_015893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015893	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	99	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg95Ser	VAR_015893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015893	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	139	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg95Ser	VAR_015893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015893	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	143	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Pro96His	VAR_058339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058339	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	92	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Pro96His	VAR_058339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058339	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	105	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Pro96His	VAR_058339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058339	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	100	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Pro96His	VAR_058339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058339	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	140	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Pro96His	VAR_058339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058339	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	144	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Pro96Ser	VAR_015894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015894	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	92	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Pro96Ser	VAR_015894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015894	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	105	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Pro96Ser	VAR_015894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015894	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	100	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Pro96Ser	VAR_015894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015894	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	140	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Pro96Ser	VAR_015894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015894	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	144	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg108Leu	VAR_016014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016014	rs35269064 Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	104	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg108Leu	VAR_016014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016014	rs35269064 Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	117	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg108Leu	VAR_016014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016014	rs35269064 Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	112	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg108Leu	VAR_016014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016014	rs35269064 Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	152	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg108Leu	VAR_016014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016014	rs35269064 Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	175	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly117Asp	VAR_015896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015896	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	113	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly117Asp	VAR_015896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015896	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	126	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly117Asp	VAR_015896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015896	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	121	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly117Asp	VAR_015896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015896	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	166	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly117Asp	VAR_015896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015896	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	184	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly117Ser	VAR_015895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015895	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	113	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly117Ser	VAR_015895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015895	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	126	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly117Ser	VAR_015895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015895	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	121	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly117Ser	VAR_015895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015895	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	166	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly117Ser	VAR_015895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015895	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	184	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ala118Thr	VAR_000684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000684	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	114	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ala118Thr	VAR_000684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000684	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	127	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ala118Thr	VAR_000684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000684	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	122	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ala118Thr	VAR_000684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000684	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	167	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ala118Thr	VAR_000684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000684	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	185	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Thr119Ile	VAR_016015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016015	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	115	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Thr119Ile	VAR_016015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016015	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	128	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Thr119Ile	VAR_016015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016015	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	123	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Thr119Ile	VAR_016015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016015	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	168	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Thr119Ile	VAR_016015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016015	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	186	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Asp124Asn	VAR_058340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058340	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	120	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Asp124Asn	VAR_058340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058340	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	133	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Asp124Asn	VAR_058340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058340	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	128	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Asp124Asn	VAR_058340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058340	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	173	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Asp124Asn	VAR_058340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058340	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	191	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg127Gln	VAR_058341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058341	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	123	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg127Gln	VAR_058341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058341	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	136	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg127Gln	VAR_058341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058341	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	131	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg127Gln	VAR_058341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058341	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	176	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg127Gln	VAR_058341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058341	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	194	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg127Trp	VAR_058342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058342	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	123	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg127Trp	VAR_058342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058342	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	136	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg127Trp	VAR_058342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058342	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	131	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg127Trp	VAR_058342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058342	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	176	cd01984	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg127Trp	VAR_058342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058342	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	194	cd01986	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg157Cys	VAR_015897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015897	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	153	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg157Cys	VAR_015897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015897	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	167	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg157Cys	VAR_015897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015897	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	162	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg157His	VAR_000685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000685	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	153	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg157His	VAR_000685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000685	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	167	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg157His	VAR_000685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000685	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	162	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Leu160Pro	VAR_058343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058343	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	156	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Leu160Pro	VAR_058343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058343	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	170	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Leu160Pro	VAR_058343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058343	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	165	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Trp179Arg	VAR_015898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015898	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	175	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Trp179Arg	VAR_015898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015898	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	191	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Trp179Arg	VAR_015898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015898	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	187	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser180Asn	VAR_000686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000686	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	176	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser180Asn	VAR_000686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000686	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	192	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser180Asn	VAR_000686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000686	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	188	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Tyr190Asp	VAR_058344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058344	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	186	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Tyr190Asp	VAR_058344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058344	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	202	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Tyr190Asp	VAR_058344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058344	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	198	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Glu191Lys	VAR_015899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015899	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	187	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Glu191Lys	VAR_015899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015899	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	203	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Glu191Lys	VAR_015899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015899	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	199	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Glu191Gln	VAR_058345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058345	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	187	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Glu191Gln	VAR_058345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058345	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	203	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Glu191Gln	VAR_058345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058345	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	199	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ala192Val	VAR_000687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000687	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	188	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ala192Val	VAR_000687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000687	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	204	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ala192Val	VAR_000687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000687	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	200	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ala202Glu	VAR_058346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058346	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	198	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ala202Glu	VAR_058346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058346	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	214	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ala202Glu	VAR_058346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058346	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	211	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Leu206Pro	VAR_058347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058347	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	202	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Leu206Pro	VAR_058347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058347	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	218	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Leu206Pro	VAR_058347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058347	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	215	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Val263Met	VAR_058348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058348	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	267	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Val263Met	VAR_058348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058348	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	282	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Val263Met	VAR_058348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058348	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	278	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg265Cys	VAR_058349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058349	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	269	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg265Cys	VAR_058349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058349	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	284	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg265Cys	VAR_058349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058349	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	280	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg265His	VAR_015900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015900	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	269	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg265His	VAR_015900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015900	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	284	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg265His	VAR_015900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015900	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	280	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Val269Met	VAR_015901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015901	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	273	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Val269Met	VAR_015901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015901	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	288	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Val269Met	VAR_015901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015901	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	284	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Glu270Gln	VAR_016007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016007	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	274	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Glu270Gln	VAR_016007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016007	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	289	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Glu270Gln	VAR_016007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016007	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	285	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg272Cys	VAR_000688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000688	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	276	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg272Cys	VAR_000688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000688	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	291	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg272Cys	VAR_000688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000688	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	287	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Lys277Thr	VAR_058350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058350	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	281	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Lys277Thr	VAR_058350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058350	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	296	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Lys277Thr	VAR_058350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058350	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	292	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg279Gln	VAR_016008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016008	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	283	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg279Gln	VAR_016008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016008	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	298	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg279Gln	VAR_016008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016008	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	294	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly280Arg	VAR_000689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000689	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	284	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly280Arg	VAR_000689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000689	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	299	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly280Arg	VAR_000689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000689	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	295	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Glu283Lys	VAR_015902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015902	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	287	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Glu283Lys	VAR_015902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015902	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	302	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Glu283Lys	VAR_015902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015902	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	298	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Thr284Ile	VAR_058351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058351	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	288	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Thr284Ile	VAR_058351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058351	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	303	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Thr284Ile	VAR_058351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058351	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	299	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Tyr291Ser	VAR_058352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058352	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	295	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Tyr291Ser	VAR_058352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058352	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	310	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Tyr291Ser	VAR_058352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058352	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	306	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Asp296Gly	VAR_058353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058353	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	301	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Asp296Gly	VAR_058353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058353	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	315	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Asp296Gly	VAR_058353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058353	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	311	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Met302Val	VAR_058354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058354	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	307	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Met302Val	VAR_058354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058354	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	321	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Met302Val	VAR_058354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058354	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	317	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg304Trp	VAR_000690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000690	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	309	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg304Trp	VAR_000690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000690	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	323	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg304Trp	VAR_000690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000690	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	319	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg307Cys	VAR_058355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058355	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	312	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg307Cys	VAR_058355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058355	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	326	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg307Cys	VAR_058355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058355	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	322	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Lys310Gln	VAR_016009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016009	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	315	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Lys310Gln	VAR_016009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016009	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	329	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Lys310Gln	VAR_016009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016009	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	326	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Lys310Arg	VAR_015903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015903	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	315	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Lys310Arg	VAR_015903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015903	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	329	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Lys310Arg	VAR_015903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015903	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	326	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly324Ser	VAR_000691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000691	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	330	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly324Ser	VAR_000691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000691	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	344	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly324Ser	VAR_000691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000691	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	340	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly324Val	VAR_058356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058356	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	330	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly324Val	VAR_058356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058356	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	344	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly324Val	VAR_058356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058356	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	340	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser341Phe	VAR_058357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058357	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	347	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser341Phe	VAR_058357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058357	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	362	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Ser341Phe	VAR_058357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058357	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	357	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Val345Gly	VAR_058358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058358	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	351	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Val345Gly	VAR_058358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058358	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	366	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Val345Gly	VAR_058358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058358	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	362	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly347Arg	VAR_058359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058359	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	353	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly347Arg	VAR_058359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058359	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	368	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly347Arg	VAR_058359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058359	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	364	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Tyr359Asp	VAR_058360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058360	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	365	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Tyr359Asp	VAR_058360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058360	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	380	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Tyr359Asp	VAR_058360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058360	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	377	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly362Val	VAR_015904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015904	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	368	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly362Val	VAR_015904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015904	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	383	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly362Val	VAR_015904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015904	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	380	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg363Gly	VAR_016010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016010	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	369	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg363Gly	VAR_016010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016010	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	384	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg363Gly	VAR_016010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016010	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	381	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg363Leu	VAR_000692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000692	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	369	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg363Leu	VAR_000692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000692	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	384	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg363Leu	VAR_000692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000692	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	381	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg363Gln	VAR_016011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016011	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	369	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg363Gln	VAR_016011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016011	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	384	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg363Gln	VAR_016011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016011	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	381	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg363Trp	VAR_000693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000693	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	369	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg363Trp	VAR_000693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000693	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	384	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Arg363Trp	VAR_000693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000693	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	381	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Thr389Ile	VAR_016012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016012	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	396	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Thr389Ile	VAR_016012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016012	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	415	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Thr389Ile	VAR_016012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016012	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	412	cd01999	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly390Arg	VAR_000694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000694	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	397	pfam00764	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly390Arg	VAR_000694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000694	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	416	COG0137	53759107,NP_000041|16950633,NP_446464
445	20141195	Disease	p.Gly390Arg	VAR_000694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000694	- Citrullinemia type 1 (CTLN1) [MIM:215700]	SWISS	413	cd01999	53759107,NP_000041|16950633,NP_446464
85300	38257451	Disease	p.Ser301Arg	VAR_017164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017164	- Cerebellar ataxia, cayman type (ATCAY) [MIM:601238]	SWISS	271	smart00516	29336043,NP_149053
85300	38257451	Disease	p.Ser301Arg	VAR_017164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017164	- Cerebellar ataxia, cayman type (ATCAY) [MIM:601238]	SWISS	198	cd00170	29336043,NP_149053
471	23831360	Disease	p.Lys426Arg	VAR_019307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019307	- AICA-ribosuria [MIM:608688]	SWISS	463	COG0138	20127454,NP_004035
471	23831360	Disease	p.Lys426Arg	VAR_019307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019307	- AICA-ribosuria [MIM:608688]	SWISS	598	smart00798	20127454,NP_004035
471	23831360	Disease	p.Lys426Arg	VAR_019307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019307	- AICA-ribosuria [MIM:608688]	SWISS	338	pfam01808	20127454,NP_004035
51062	37999727	Disease	p.Ala161Pro	VAR_019446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019446	- Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]	SWISS	138	cd01851	19923445,NP_056999
51062	37999727	Disease	p.Ala161Pro	VAR_019446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019446	- Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]	SWISS	131	pfam02263	19923445,NP_056999
51062	37999727	Disease	p.Arg217Gln	VAR_017146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017146	- Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]	SWISS	244	cd01851	19923445,NP_056999
51062	37999727	Disease	p.Arg217Gln	VAR_017146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017146	- Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]	SWISS	201	pfam02263	19923445,NP_056999
51062	37999727	Disease	p.Arg239Cys	VAR_017147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017147	- Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]	SWISS	297	cd01851	19923445,NP_056999
51062	37999727	Disease	p.Arg239Cys	VAR_017147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017147	- Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]	SWISS	223	pfam02263	19923445,NP_056999
51062	37999727	Disease	p.His247Pro	VAR_019447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019447	- Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]	SWISS	305	cd01851	19923445,NP_056999
51062	37999727	Disease	p.His247Pro	VAR_019447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019447	- Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]	SWISS	231	pfam02263	19923445,NP_056999
51062	37999727	Disease	p.His258Arg	VAR_017148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017148	- Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]	SWISS	316	cd01851	19923445,NP_056999
51062	37999727	Disease	p.His258Arg	VAR_017148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017148	- Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]	SWISS	245	pfam02263	19923445,NP_056999
51062	37999727	Disease	p.Ser259Tyr	VAR_017149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017149	- Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]	SWISS	317	cd01851	19923445,NP_056999
51062	37999727	Disease	p.Ser259Tyr	VAR_017149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017149	- Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]	SWISS	246	pfam02263	19923445,NP_056999
472	254763251	Disease	p.Lys224Glu	VAR_010801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010801	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.Pro292Leu	VAR_010802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010802	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.Ile323Val	VAR_010803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010803	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.Phe570Ser	VAR_010808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010808	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.Asn768Asp	VAR_010812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010812	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.Arg785Cys	VAR_010813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010813	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.Leu950Arg	VAR_010815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010815	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.Leu1001Gln	VAR_010816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010816	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.His1082Leu	VAR_010819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010819	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.Glu1091Asp	VAR_010820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010820	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.Leu1420Pro	VAR_010823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010823	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.Leu1465Pro	VAR_010826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010826	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.Pro1566Arg	VAR_010827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010827	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.Ser1691Arg	VAR_010830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010830	rs1800059 Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.Thr1743Ile	VAR_010831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010831	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.Val1913Gly	VAR_010836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010836	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.Asp2016Gly	VAR_010838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010838	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.Gly2063Glu	VAR_010839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010839	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.Ala2067Asp	VAR_010840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010840	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.Ser2218Cys	VAR_010844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010844	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	211	pfam02259	71902540,NP_000042
472	254763251	Disease	p.Arg2227Cys	VAR_010846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010846	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	220	pfam02259	71902540,NP_000042
472	254763251	Disease	p.Val2424Gly	VAR_010854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010854	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	608	pfam02259	71902540,NP_000042
472	254763251	Disease	p.Tyr2470Asp	VAR_010858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010858	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	717	pfam02259	71902540,NP_000042
472	254763251	Disease	p.Trp2491Arg	VAR_010860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010860	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.His2554Asp	VAR_010862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010862	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	No Domain	N/A	71902540,NP_000042
472	254763251	Disease	p.Asp2625Gln	VAR_010863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010863	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	6	cd00896	71902540,NP_000042
472	254763251	Disease	p.Leu2656Pro	VAR_010865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010865	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	36	cd00896	71902540,NP_000042
472	254763251	Disease	p.Glu2668Gly	VAR_010868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010868	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	48	cd00896	71902540,NP_000042
472	254763251	Disease	p.Ile2702Arg	VAR_010870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010870	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	23	cd00142	71902540,NP_000042
472	254763251	Disease	p.Ile2702Arg	VAR_010870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010870	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	20	cd05164	71902540,NP_000042
472	254763251	Disease	p.Ile2702Arg	VAR_010870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010870	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	20	cd05170	71902540,NP_000042
472	254763251	Disease	p.Ile2702Arg	VAR_010870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010870	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	24	cd05163	71902540,NP_000042
472	254763251	Disease	p.Ile2702Arg	VAR_010870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010870	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	20	cd05171	71902540,NP_000042
472	254763251	Disease	p.Ile2702Arg	VAR_010870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010870	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	20	cd05169	71902540,NP_000042
472	254763251	Disease	p.Ile2702Arg	VAR_010870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010870	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	20	cd05172	71902540,NP_000042
472	254763251	Disease	p.Ile2702Arg	VAR_010870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010870	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	20	cd00892	71902540,NP_000042
472	254763251	Disease	p.Ile2702Arg	VAR_010870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010870	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	4	cd05168	71902540,NP_000042
472	254763251	Disease	p.Ile2702Arg	VAR_010870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010870	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	37	cd00893	71902540,NP_000042
472	254763251	Disease	p.Ile2702Arg	VAR_010870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010870	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	110	cd00896	71902540,NP_000042
472	254763251	Disease	p.Ala2726Val	VAR_010874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010874	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	19	pfam00454	71902540,NP_000042
472	254763251	Disease	p.Ala2726Val	VAR_010874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010874	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	14	smart00146	71902540,NP_000042
472	254763251	Disease	p.Ala2726Val	VAR_010874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010874	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	80	cd00142	71902540,NP_000042
472	254763251	Disease	p.Ala2726Val	VAR_010874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010874	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	51	cd05164	71902540,NP_000042
472	254763251	Disease	p.Ala2726Val	VAR_010874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010874	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	44	cd05170	71902540,NP_000042
472	254763251	Disease	p.Ala2726Val	VAR_010874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010874	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	60	cd05163	71902540,NP_000042
472	254763251	Disease	p.Ala2726Val	VAR_010874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010874	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	45	cd05171	71902540,NP_000042
472	254763251	Disease	p.Ala2726Val	VAR_010874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010874	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	44	cd05169	71902540,NP_000042
472	254763251	Disease	p.Ala2726Val	VAR_010874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010874	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	44	cd05172	71902540,NP_000042
472	254763251	Disease	p.Ala2726Val	VAR_010874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010874	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	47	cd00892	71902540,NP_000042
472	254763251	Disease	p.Ala2726Val	VAR_010874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010874	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	47	cd05168	71902540,NP_000042
472	254763251	Disease	p.Ala2726Val	VAR_010874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010874	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	75	cd00893	71902540,NP_000042
472	254763251	Disease	p.Ala2726Val	VAR_010874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010874	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	354	cd00896	71902540,NP_000042
472	254763251	Disease	p.Cys2824Tyr	VAR_010878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010878	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	191	pfam00454	71902540,NP_000042
472	254763251	Disease	p.Cys2824Tyr	VAR_010878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010878	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	186	smart00146	71902540,NP_000042
472	254763251	Disease	p.Cys2824Tyr	VAR_010878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010878	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	214	cd00142	71902540,NP_000042
472	254763251	Disease	p.Cys2824Tyr	VAR_010878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010878	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	176	cd05164	71902540,NP_000042
472	254763251	Disease	p.Cys2824Tyr	VAR_010878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010878	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	194	cd05170	71902540,NP_000042
472	254763251	Disease	p.Cys2824Tyr	VAR_010878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010878	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	205	cd05163	71902540,NP_000042
472	254763251	Disease	p.Cys2824Tyr	VAR_010878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010878	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	164	cd05171	71902540,NP_000042
472	254763251	Disease	p.Cys2824Tyr	VAR_010878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010878	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	162	cd05169	71902540,NP_000042
472	254763251	Disease	p.Cys2824Tyr	VAR_010878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010878	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	173	cd05172	71902540,NP_000042
472	254763251	Disease	p.Cys2824Tyr	VAR_010878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010878	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	147	cd00892	71902540,NP_000042
472	254763251	Disease	p.Cys2824Tyr	VAR_010878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010878	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	127_G	cd05168	71902540,NP_000042
472	254763251	Disease	p.Cys2824Tyr	VAR_010878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010878	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	183	cd00893	71902540,NP_000042
472	254763251	Disease	p.Cys2824Tyr	VAR_010878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010878	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	469	cd00896	71902540,NP_000042
472	254763251	Disease	p.Cys2824Tyr	VAR_010878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010878	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	198	cd05167	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	VAR_010879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010879	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	194	pfam00454	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	VAR_010879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010879	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	189	smart00146	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	VAR_010879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010879	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	217	cd00142	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	VAR_010879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010879	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	179	cd05164	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	VAR_010879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010879	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	207	cd05170	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	VAR_010879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010879	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	214	cd05163	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	VAR_010879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010879	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	167	cd05171	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	VAR_010879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010879	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	168	cd05169	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	VAR_010879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010879	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	175_G	cd05172	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	VAR_010879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010879	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	150	cd00892	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	VAR_010879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010879	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	130	cd05168	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	VAR_010879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010879	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	186	cd00893	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	VAR_010879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010879	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	472	cd00896	71902540,NP_000042
472	254763251	Disease	p.Phe2827Cys	VAR_010879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010879	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	217	cd05167	71902540,NP_000042
472	254763251	Disease	p.Pro2829Leu	VAR_010880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010880	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	196	pfam00454	71902540,NP_000042
472	254763251	Disease	p.Pro2829Leu	VAR_010880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010880	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	191	smart00146	71902540,NP_000042
472	254763251	Disease	p.Pro2829Leu	VAR_010880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010880	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	219	cd00142	71902540,NP_000042
472	254763251	Disease	p.Pro2829Leu	VAR_010880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010880	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	181	cd05164	71902540,NP_000042
472	254763251	Disease	p.Pro2829Leu	VAR_010880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010880	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	209	cd05170	71902540,NP_000042
472	254763251	Disease	p.Pro2829Leu	VAR_010880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010880	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	216	cd05163	71902540,NP_000042
472	254763251	Disease	p.Pro2829Leu	VAR_010880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010880	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	169	cd05171	71902540,NP_000042
472	254763251	Disease	p.Pro2829Leu	VAR_010880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010880	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	170	cd05169	71902540,NP_000042
472	254763251	Disease	p.Pro2829Leu	VAR_010880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010880	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	175_G	cd05172	71902540,NP_000042
472	254763251	Disease	p.Pro2829Leu	VAR_010880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010880	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	152	cd00892	71902540,NP_000042
472	254763251	Disease	p.Pro2829Leu	VAR_010880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010880	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	132	cd05168	71902540,NP_000042
472	254763251	Disease	p.Pro2829Leu	VAR_010880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010880	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	187_G	cd00893	71902540,NP_000042
472	254763251	Disease	p.Pro2829Leu	VAR_010880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010880	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	474	cd00896	71902540,NP_000042
472	254763251	Disease	p.Pro2829Leu	VAR_010880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010880	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	246	cd05167	71902540,NP_000042
472	254763251	Disease	p.Arg2832Cys	VAR_010881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010881	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	199	pfam00454	71902540,NP_000042
472	254763251	Disease	p.Arg2832Cys	VAR_010881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010881	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	194	smart00146	71902540,NP_000042
472	254763251	Disease	p.Arg2832Cys	VAR_010881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010881	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	222	cd00142	71902540,NP_000042
472	254763251	Disease	p.Arg2832Cys	VAR_010881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010881	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	184	cd05164	71902540,NP_000042
472	254763251	Disease	p.Arg2832Cys	VAR_010881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010881	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	212	cd05170	71902540,NP_000042
472	254763251	Disease	p.Arg2832Cys	VAR_010881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010881	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	219	cd05163	71902540,NP_000042
472	254763251	Disease	p.Arg2832Cys	VAR_010881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010881	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	172	cd05171	71902540,NP_000042
472	254763251	Disease	p.Arg2832Cys	VAR_010881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010881	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	173	cd05169	71902540,NP_000042
472	254763251	Disease	p.Arg2832Cys	VAR_010881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010881	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	178	cd05172	71902540,NP_000042
472	254763251	Disease	p.Arg2832Cys	VAR_010881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010881	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	155	cd00892	71902540,NP_000042
472	254763251	Disease	p.Arg2832Cys	VAR_010881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010881	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	137	cd05168	71902540,NP_000042
472	254763251	Disease	p.Arg2832Cys	VAR_010881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010881	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	187_G	cd00893	71902540,NP_000042
472	254763251	Disease	p.Arg2832Cys	VAR_010881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010881	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	483	cd00896	71902540,NP_000042
472	254763251	Disease	p.Arg2832Cys	VAR_010881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010881	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	249	cd05167	71902540,NP_000042
472	254763251	Disease	p.Arg2849Pro	VAR_010882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010882	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	287	pfam00454	71902540,NP_000042
472	254763251	Disease	p.Arg2849Pro	VAR_010882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010882	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	254	smart00146	71902540,NP_000042
472	254763251	Disease	p.Arg2849Pro	VAR_010882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010882	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	244	cd00142	71902540,NP_000042
472	254763251	Disease	p.Arg2849Pro	VAR_010882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010882	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	201	cd05164	71902540,NP_000042
472	254763251	Disease	p.Arg2849Pro	VAR_010882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010882	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	241	cd05170	71902540,NP_000042
472	254763251	Disease	p.Arg2849Pro	VAR_010882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010882	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	238	cd05163	71902540,NP_000042
472	254763251	Disease	p.Arg2849Pro	VAR_010882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010882	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	190	cd05171	71902540,NP_000042
472	254763251	Disease	p.Arg2849Pro	VAR_010882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010882	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	190	cd05169	71902540,NP_000042
472	254763251	Disease	p.Arg2849Pro	VAR_010882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010882	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	195	cd05172	71902540,NP_000042
472	254763251	Disease	p.Arg2849Pro	VAR_010882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010882	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	174	cd00892	71902540,NP_000042
472	254763251	Disease	p.Arg2849Pro	VAR_010882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010882	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	142	cd05168	71902540,NP_000042
472	254763251	Disease	p.Arg2849Pro	VAR_010882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010882	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	190	cd00893	71902540,NP_000042
472	254763251	Disease	p.Arg2849Pro	VAR_010882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010882	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	490_G	cd00896	71902540,NP_000042
472	254763251	Disease	p.Arg2849Pro	VAR_010882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010882	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	278	cd05167	71902540,NP_000042
472	254763251	Disease	p.Ser2855Arg	VAR_010883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010883	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	293	pfam00454	71902540,NP_000042
472	254763251	Disease	p.Ser2855Arg	VAR_010883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010883	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	260	smart00146	71902540,NP_000042
472	254763251	Disease	p.Ser2855Arg	VAR_010883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010883	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	250	cd00142	71902540,NP_000042
472	254763251	Disease	p.Ser2855Arg	VAR_010883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010883	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	207	cd05164	71902540,NP_000042
472	254763251	Disease	p.Ser2855Arg	VAR_010883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010883	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	247	cd05170	71902540,NP_000042
472	254763251	Disease	p.Ser2855Arg	VAR_010883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010883	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	242	cd05163	71902540,NP_000042
472	254763251	Disease	p.Ser2855Arg	VAR_010883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010883	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	196	cd05171	71902540,NP_000042
472	254763251	Disease	p.Ser2855Arg	VAR_010883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010883	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	196	cd05169	71902540,NP_000042
472	254763251	Disease	p.Ser2855Arg	VAR_010883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010883	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	201	cd05172	71902540,NP_000042
472	254763251	Disease	p.Ser2855Arg	VAR_010883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010883	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	180	cd00892	71902540,NP_000042
472	254763251	Disease	p.Ser2855Arg	VAR_010883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010883	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	148	cd05168	71902540,NP_000042
472	254763251	Disease	p.Ser2855Arg	VAR_010883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010883	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	196	cd00893	71902540,NP_000042
472	254763251	Disease	p.Ser2855Arg	VAR_010883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010883	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	493	cd00896	71902540,NP_000042
472	254763251	Disease	p.Ser2855Arg	VAR_010883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010883	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	284	cd05167	71902540,NP_000042
472	254763251	Disease	p.Gly2867Arg	VAR_010886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010886	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	305	pfam00454	71902540,NP_000042
472	254763251	Disease	p.Gly2867Arg	VAR_010886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010886	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	272	smart00146	71902540,NP_000042
472	254763251	Disease	p.Gly2867Arg	VAR_010886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010886	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	262	cd00142	71902540,NP_000042
472	254763251	Disease	p.Gly2867Arg	VAR_010886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010886	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	219	cd05164	71902540,NP_000042
472	254763251	Disease	p.Gly2867Arg	VAR_010886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010886	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	259	cd05170	71902540,NP_000042
472	254763251	Disease	p.Gly2867Arg	VAR_010886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010886	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	254	cd05163	71902540,NP_000042
472	254763251	Disease	p.Gly2867Arg	VAR_010886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010886	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	208	cd05171	71902540,NP_000042
472	254763251	Disease	p.Gly2867Arg	VAR_010886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010886	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	208	cd05169	71902540,NP_000042
472	254763251	Disease	p.Gly2867Arg	VAR_010886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010886	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	213	cd05172	71902540,NP_000042
472	254763251	Disease	p.Gly2867Arg	VAR_010886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010886	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	192	cd00892	71902540,NP_000042
472	254763251	Disease	p.Gly2867Arg	VAR_010886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010886	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	160	cd05168	71902540,NP_000042
472	254763251	Disease	p.Gly2867Arg	VAR_010886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010886	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	208	cd00893	71902540,NP_000042
472	254763251	Disease	p.Gly2867Arg	VAR_010886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010886	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	505	cd00896	71902540,NP_000042
472	254763251	Disease	p.Gly2867Arg	VAR_010886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010886	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	296	cd05167	71902540,NP_000042
472	254763251	Disease	p.Glu2904Gly	VAR_010889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010889	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	398	pfam00454	71902540,NP_000042
472	254763251	Disease	p.Glu2904Gly	VAR_010889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010889	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	351	smart00146	71902540,NP_000042
472	254763251	Disease	p.Glu2904Gly	VAR_010889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010889	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	301	cd00142	71902540,NP_000042
472	254763251	Disease	p.Glu2904Gly	VAR_010889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010889	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	257	cd05164	71902540,NP_000042
472	254763251	Disease	p.Glu2904Gly	VAR_010889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010889	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	296	cd05170	71902540,NP_000042
472	254763251	Disease	p.Glu2904Gly	VAR_010889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010889	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	311	cd05163	71902540,NP_000042
472	254763251	Disease	p.Glu2904Gly	VAR_010889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010889	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	246	cd05171	71902540,NP_000042
472	254763251	Disease	p.Glu2904Gly	VAR_010889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010889	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	246	cd05169	71902540,NP_000042
472	254763251	Disease	p.Glu2904Gly	VAR_010889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010889	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	251	cd05172	71902540,NP_000042
472	254763251	Disease	p.Glu2904Gly	VAR_010889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010889	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	247	cd00892	71902540,NP_000042
472	254763251	Disease	p.Glu2904Gly	VAR_010889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010889	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	207_G	cd05168	71902540,NP_000042
472	254763251	Disease	p.Glu2904Gly	VAR_010889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010889	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	245	cd00893	71902540,NP_000042
472	254763251	Disease	p.Glu2904Gly	VAR_010889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010889	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	543_G	cd00896	71902540,NP_000042
472	254763251	Disease	p.Glu2904Gly	VAR_010889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010889	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	334	cd05167	71902540,NP_000042
472	254763251	Disease	p.Arg2909Gly	VAR_010890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010890	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	403	pfam00454	71902540,NP_000042
472	254763251	Disease	p.Arg2909Gly	VAR_010890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010890	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	356	smart00146	71902540,NP_000042
472	254763251	Disease	p.Arg2909Gly	VAR_010890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010890	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	306	cd00142	71902540,NP_000042
472	254763251	Disease	p.Arg2909Gly	VAR_010890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010890	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	262	cd05164	71902540,NP_000042
472	254763251	Disease	p.Arg2909Gly	VAR_010890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010890	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	301	cd05170	71902540,NP_000042
472	254763251	Disease	p.Arg2909Gly	VAR_010890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010890	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	316	cd05163	71902540,NP_000042
472	254763251	Disease	p.Arg2909Gly	VAR_010890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010890	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	251	cd05171	71902540,NP_000042
472	254763251	Disease	p.Arg2909Gly	VAR_010890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010890	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	251	cd05169	71902540,NP_000042
472	254763251	Disease	p.Arg2909Gly	VAR_010890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010890	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	256	cd05172	71902540,NP_000042
472	254763251	Disease	p.Arg2909Gly	VAR_010890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010890	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	252	cd00892	71902540,NP_000042
472	254763251	Disease	p.Arg2909Gly	VAR_010890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010890	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	213	cd05168	71902540,NP_000042
472	254763251	Disease	p.Arg2909Gly	VAR_010890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010890	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	250	cd00893	71902540,NP_000042
472	254763251	Disease	p.Arg2909Gly	VAR_010890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010890	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	546	cd00896	71902540,NP_000042
472	254763251	Disease	p.Arg2909Gly	VAR_010890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010890	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	339	cd05167	71902540,NP_000042
472	254763251	Disease	p.Arg3008Cys	VAR_010893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010893	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	352	cd05168	71902540,NP_000042
472	254763251	Disease	p.Arg3008Cys	VAR_010893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010893	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	345	cd00893	71902540,NP_000042
472	254763251	Disease	p.Arg3008Cys	VAR_010893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010893	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	655	cd00896	71902540,NP_000042
472	254763251	Disease	p.Arg3008Cys	VAR_010893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010893	- Ataxia telangiectasia (AT) [MIM:208900]	SWISS	453	cd05167	71902540,NP_000042
477	1703467	Disease	p.Thr378Asn	VAR_019934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019934	rs28934002 Alternating hemiplegia of childhood (AHC) [MIM:104290]	SWISS	338	COG2216	4502271,NP_000693
477	1703467	Disease	p.Thr378Asn	VAR_019934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019934	rs28934002 Alternating hemiplegia of childhood (AHC) [MIM:104290]	SWISS	683	COG2217	4502271,NP_000693
477	1703467	Disease	p.Thr378Asn	VAR_019934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019934	rs28934002 Alternating hemiplegia of childhood (AHC) [MIM:104290]	SWISS	635	COG0474	4502271,NP_000693
477	1703467	Disease	p.Arg689Gln	VAR_019935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019935	rs28933401 Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]	SWISS	570	COG2216	4502271,NP_000693
477	1703467	Disease	p.Arg689Gln	VAR_019935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019935	rs28933401 Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]	SWISS	951	COG2217	4502271,NP_000693
477	1703467	Disease	p.Arg689Gln	VAR_019935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019935	rs28933401 Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]	SWISS	1367	COG0474	4502271,NP_000693
477	1703467	Disease	p.Met731Thr	VAR_019936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019936	rs28933400 Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]	SWISS	612	COG2216	4502271,NP_000693
477	1703467	Disease	p.Met731Thr	VAR_019936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019936	rs28933400 Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]	SWISS	1003	COG2217	4502271,NP_000693
477	1703467	Disease	p.Met731Thr	VAR_019936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019936	rs28933400 Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]	SWISS	1411	COG0474	4502271,NP_000693
477	1703467	Disease	p.Leu764Pro	VAR_019937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019937	rs28933398 Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]	SWISS	670	COG2216	4502271,NP_000693
477	1703467	Disease	p.Leu764Pro	VAR_019937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019937	rs28933398 Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]	SWISS	1047	COG2217	4502271,NP_000693
477	1703467	Disease	p.Leu764Pro	VAR_019937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019937	rs28933398 Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]	SWISS	1561	COG0474	4502271,NP_000693
477	1703467	Disease	p.Trp887Arg	VAR_019938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019938	rs28933399 Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]	SWISS	137	pfam00689	4502271,NP_000693
477	1703467	Disease	p.Trp887Arg	VAR_019938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019938	rs28933399 Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]	SWISS	1715	COG0474	4502271,NP_000693
478	116241260	Disease	p.Ile274Thr	VAR_026735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026735	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	227_G	COG2216	22748667,NP_689509
478	116241260	Disease	p.Ile274Thr	VAR_026735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026735	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	380	pfam00122	22748667,NP_689509
478	116241260	Disease	p.Ile274Thr	VAR_026735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026735	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	549	COG2217	22748667,NP_689509
478	116241260	Disease	p.Ile274Thr	VAR_026735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026735	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	509	COG0474	22748667,NP_689509
478	116241260	Disease	p.Glu277Lys	VAR_026736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026736	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	229	COG2216	22748667,NP_689509
478	116241260	Disease	p.Glu277Lys	VAR_026736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026736	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	383	pfam00122	22748667,NP_689509
478	116241260	Disease	p.Glu277Lys	VAR_026736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026736	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	552	COG2217	22748667,NP_689509
478	116241260	Disease	p.Glu277Lys	VAR_026736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026736	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	512	COG0474	22748667,NP_689509
478	116241260	Disease	p.Thr613Met	VAR_026737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026737	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	554	COG2216	22748667,NP_689509
478	116241260	Disease	p.Thr613Met	VAR_026737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026737	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	933	COG2217	22748667,NP_689509
478	116241260	Disease	p.Thr613Met	VAR_026737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026737	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	1247	COG0474	22748667,NP_689509
478	116241260	Disease	p.Ile758Ser	VAR_026738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026738	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	671	COG2216	22748667,NP_689509
478	116241260	Disease	p.Ile758Ser	VAR_026738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026738	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	1048	COG2217	22748667,NP_689509
478	116241260	Disease	p.Ile758Ser	VAR_026738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026738	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	1562	COG0474	22748667,NP_689509
478	116241260	Disease	p.Phe780Leu	VAR_026739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026739	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	704	COG2216	22748667,NP_689509
478	116241260	Disease	p.Phe780Leu	VAR_026739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026739	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	1069	COG2217	22748667,NP_689509
478	116241260	Disease	p.Phe780Leu	VAR_026739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026739	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	1584	COG0474	22748667,NP_689509
478	116241260	Disease	p.Asp801Tyr	VAR_026740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026740	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	757	COG2216	22748667,NP_689509
478	116241260	Disease	p.Asp801Tyr	VAR_026740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026740	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	13	pfam00689	22748667,NP_689509
478	116241260	Disease	p.Asp801Tyr	VAR_026740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026740	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	1094	COG2217	22748667,NP_689509
478	116241260	Disease	p.Asp801Tyr	VAR_026740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026740	- Dystonia type 12 (DYT12) [MIM:128235]	SWISS	1618	COG0474	22748667,NP_689509
487	12643544	Disease	p.Pro789Leu	VAR_015588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015588	- Brody myopathy (BRM) [MIM:601003]	SWISS	1611	COG0474	27886529,NP_775293
487	12643544	Disease	p.Pro789Leu	VAR_015588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015588	- Brody myopathy (BRM) [MIM:601003]	SWISS	6	pfam00689	27886529,NP_775293
487	12643544	Disease	p.Pro789Leu	VAR_015588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015588	- Brody myopathy (BRM) [MIM:601003]	SWISS	717	COG2216	27886529,NP_775293
488	114312	Disease	p.Gly23Glu	VAR_008608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008608	rs28929478 Darier disease (DD) [MIM:124200]	SWISS	38	pfam00690	24638454,NP_733765
488	114312	Disease	p.Gly23Glu	VAR_008608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008608	rs28929478 Darier disease (DD) [MIM:124200]	SWISS	104	COG0474	24638454,NP_733765
488	114312	Disease	p.Gly23Glu	VAR_008608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008608	rs28929478 Darier disease (DD) [MIM:124200]	SWISS	66	COG2217	24638454,NP_733765
488	114312	Disease	p.Gly23Glu	VAR_008608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008608	rs28929478 Darier disease (DD) [MIM:124200]	SWISS	41	smart00831	24638454,NP_733765
488	114312	Disease	p.Asn39Thr	VAR_008609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008609	- Darier disease (DD) [MIM:124200]	SWISS	65	pfam00690	24638454,NP_733765
488	114312	Disease	p.Asn39Thr	VAR_008609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008609	- Darier disease (DD) [MIM:124200]	SWISS	126	COG0474	24638454,NP_733765
488	114312	Disease	p.Asn39Thr	VAR_008609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008609	- Darier disease (DD) [MIM:124200]	SWISS	144	COG2217	24638454,NP_733765
488	114312	Disease	p.Asn39Thr	VAR_008609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008609	- Darier disease (DD) [MIM:124200]	SWISS	61	smart00831	24638454,NP_733765
488	114312	Disease	p.Leu65Ser	VAR_008611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008611	- Darier disease (DD) [MIM:124200]	SWISS	41	COG2216	24638454,NP_733765
488	114312	Disease	p.Leu65Ser	VAR_008611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008611	- Darier disease (DD) [MIM:124200]	SWISS	93	pfam00690	24638454,NP_733765
488	114312	Disease	p.Leu65Ser	VAR_008611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008611	- Darier disease (DD) [MIM:124200]	SWISS	161	COG0474	24638454,NP_733765
488	114312	Disease	p.Leu65Ser	VAR_008611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008611	- Darier disease (DD) [MIM:124200]	SWISS	211	COG2217	24638454,NP_733765
488	114312	Disease	p.Leu65Ser	VAR_008611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008611	- Darier disease (DD) [MIM:124200]	SWISS	128	smart00831	24638454,NP_733765
488	114312	Disease	p.Arg131Gln	VAR_008612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008612	- Darier disease (DD) [MIM:124200]	SWISS	114	COG2216	24638454,NP_733765
488	114312	Disease	p.Arg131Gln	VAR_008612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008612	- Darier disease (DD) [MIM:124200]	SWISS	256	COG0474	24638454,NP_733765
488	114312	Disease	p.Arg131Gln	VAR_008612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008612	- Darier disease (DD) [MIM:124200]	SWISS	412	COG2217	24638454,NP_733765
488	114312	Disease	p.Arg131Gln	VAR_008612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008612	- Darier disease (DD) [MIM:124200]	SWISS	44	pfam00122	24638454,NP_733765
488	114312	Disease	p.Pro160Leu	VAR_008613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008613	- Darier disease (DD) [MIM:124200]	SWISS	151	COG2216	24638454,NP_733765
488	114312	Disease	p.Pro160Leu	VAR_008613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008613	- Darier disease (DD) [MIM:124200]	SWISS	293	COG0474	24638454,NP_733765
488	114312	Disease	p.Pro160Leu	VAR_008613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008613	- Darier disease (DD) [MIM:124200]	SWISS	463	COG2217	24638454,NP_733765
488	114312	Disease	p.Pro160Leu	VAR_008613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008613	- Darier disease (DD) [MIM:124200]	SWISS	126	pfam00122	24638454,NP_733765
488	114312	Disease	p.Ser186Pro	VAR_008614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008614	- Darier disease (DD) [MIM:124200]	SWISS	174	COG2216	24638454,NP_733765
488	114312	Disease	p.Ser186Pro	VAR_008614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008614	- Darier disease (DD) [MIM:124200]	SWISS	321	COG0474	24638454,NP_733765
488	114312	Disease	p.Ser186Pro	VAR_008614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008614	- Darier disease (DD) [MIM:124200]	SWISS	486	COG2217	24638454,NP_733765
488	114312	Disease	p.Ser186Pro	VAR_008614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008614	- Darier disease (DD) [MIM:124200]	SWISS	212	pfam00122	24638454,NP_733765
488	114312	Disease	p.Gly211Asp	VAR_008615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008615	- Darier disease (DD) [MIM:124200]	SWISS	190	COG2216	24638454,NP_733765
488	114312	Disease	p.Gly211Asp	VAR_008615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008615	- Darier disease (DD) [MIM:124200]	SWISS	416	COG0474	24638454,NP_733765
488	114312	Disease	p.Gly211Asp	VAR_008615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008615	- Darier disease (DD) [MIM:124200]	SWISS	511	COG2217	24638454,NP_733765
488	114312	Disease	p.Gly211Asp	VAR_008615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008615	- Darier disease (DD) [MIM:124200]	SWISS	290	pfam00122	24638454,NP_733765
488	114312	Disease	p.Val223Met	VAR_008616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008616	- Darier disease (DD) [MIM:124200]	SWISS	199	COG2216	24638454,NP_733765
488	114312	Disease	p.Val223Met	VAR_008616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008616	- Darier disease (DD) [MIM:124200]	SWISS	448	COG0474	24638454,NP_733765
488	114312	Disease	p.Val223Met	VAR_008616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008616	- Darier disease (DD) [MIM:124200]	SWISS	523	COG2217	24638454,NP_733765
488	114312	Disease	p.Val223Met	VAR_008616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008616	- Darier disease (DD) [MIM:124200]	SWISS	313	pfam00122	24638454,NP_733765
488	114312	Disease	p.Cys268Phe	VAR_008617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008617	- Darier disease (DD) [MIM:124200]	SWISS	245	COG2216	24638454,NP_733765
488	114312	Disease	p.Cys268Phe	VAR_008617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008617	- Darier disease (DD) [MIM:124200]	SWISS	528	COG0474	24638454,NP_733765
488	114312	Disease	p.Cys268Phe	VAR_008617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008617	- Darier disease (DD) [MIM:124200]	SWISS	572	COG2217	24638454,NP_733765
488	114312	Disease	p.Cys268Phe	VAR_008617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008617	- Darier disease (DD) [MIM:124200]	SWISS	400	pfam00122	24638454,NP_733765
488	114312	Disease	p.Gly310Val	VAR_008618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008618	- Darier disease (DD) [MIM:124200]	SWISS	291_G	COG2216	24638454,NP_733765
488	114312	Disease	p.Gly310Val	VAR_008618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008618	- Darier disease (DD) [MIM:124200]	SWISS	580	COG0474	24638454,NP_733765
488	114312	Disease	p.Gly310Val	VAR_008618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008618	- Darier disease (DD) [MIM:124200]	SWISS	638	COG2217	24638454,NP_733765
488	114312	Disease	p.Gly310Val	VAR_008618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008618	- Darier disease (DD) [MIM:124200]	SWISS	542	pfam00122	24638454,NP_733765
488	114312	Disease	p.Cys318Arg	VAR_008619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008619	- Darier disease (DD) [MIM:124200]	SWISS	294	COG2216	24638454,NP_733765
488	114312	Disease	p.Cys318Arg	VAR_008619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008619	- Darier disease (DD) [MIM:124200]	SWISS	588	COG0474	24638454,NP_733765
488	114312	Disease	p.Cys318Arg	VAR_008619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008619	- Darier disease (DD) [MIM:124200]	SWISS	646	COG2217	24638454,NP_733765
488	114312	Disease	p.Cys318Arg	VAR_008619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008619	- Darier disease (DD) [MIM:124200]	SWISS	550	pfam00122	24638454,NP_733765
488	114312	Disease	p.Ile348Thr	VAR_008620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008620	- Darier disease (DD) [MIM:124200]	SWISS	331	COG2216	24638454,NP_733765
488	114312	Disease	p.Ile348Thr	VAR_008620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008620	- Darier disease (DD) [MIM:124200]	SWISS	628	COG0474	24638454,NP_733765
488	114312	Disease	p.Ile348Thr	VAR_008620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008620	- Darier disease (DD) [MIM:124200]	SWISS	676	COG2217	24638454,NP_733765
488	114312	Disease	p.Thr357Lys	VAR_009508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009508	- Darier disease (DD) [MIM:124200]	SWISS	340	COG2216	24638454,NP_733765
488	114312	Disease	p.Thr357Lys	VAR_009508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009508	- Darier disease (DD) [MIM:124200]	SWISS	637	COG0474	24638454,NP_733765
488	114312	Disease	p.Thr357Lys	VAR_009508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009508	- Darier disease (DD) [MIM:124200]	SWISS	685	COG2217	24638454,NP_733765
488	114312	Disease	p.Glu412Gly	VAR_008621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008621	- Darier disease (DD) [MIM:124200]	SWISS	362	COG2216	24638454,NP_733765
488	114312	Disease	p.Glu412Gly	VAR_008621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008621	- Darier disease (DD) [MIM:124200]	SWISS	795	COG0474	24638454,NP_733765
488	114312	Disease	p.Glu412Gly	VAR_008621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008621	- Darier disease (DD) [MIM:124200]	SWISS	712	COG2217	24638454,NP_733765
488	114312	Disease	p.Ser495Phe	VAR_008622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008622	- Darier disease (DD) [MIM:124200]	SWISS	439	COG2216	24638454,NP_733765
488	114312	Disease	p.Ser495Phe	VAR_008622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008622	- Darier disease (DD) [MIM:124200]	SWISS	918	COG0474	24638454,NP_733765
488	114312	Disease	p.Ser495Phe	VAR_008622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008622	- Darier disease (DD) [MIM:124200]	SWISS	785	COG2217	24638454,NP_733765
488	114312	Disease	p.Ser495Phe	VAR_008622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008622	- Darier disease (DD) [MIM:124200]	SWISS	2	pfam00702	24638454,NP_733765
488	114312	Disease	p.Cys560Arg	VAR_008623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008623	- Darier disease (DD) [MIM:124200]	SWISS	502	COG2216	24638454,NP_733765
488	114312	Disease	p.Cys560Arg	VAR_008623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008623	- Darier disease (DD) [MIM:124200]	SWISS	1156	COG0474	24638454,NP_733765
488	114312	Disease	p.Cys560Arg	VAR_008623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008623	- Darier disease (DD) [MIM:124200]	SWISS	866	COG2217	24638454,NP_733765
488	114312	Disease	p.Cys560Arg	VAR_008623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008623	- Darier disease (DD) [MIM:124200]	SWISS	147	pfam00702	24638454,NP_733765
488	114312	Disease	p.Pro602Leu	VAR_017532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017532	- Acrokeratosis verruciformis (AKV) [MIM:101900]	SWISS	526	COG2216	24638454,NP_733765
488	114312	Disease	p.Pro602Leu	VAR_017532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017532	- Acrokeratosis verruciformis (AKV) [MIM:101900]	SWISS	1219	COG0474	24638454,NP_733765
488	114312	Disease	p.Pro602Leu	VAR_017532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017532	- Acrokeratosis verruciformis (AKV) [MIM:101900]	SWISS	903	COG2217	24638454,NP_733765
488	114312	Disease	p.Pro602Leu	VAR_017532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017532	- Acrokeratosis verruciformis (AKV) [MIM:101900]	SWISS	290	pfam00702	24638454,NP_733765
488	114312	Disease	p.Phe675Ser	VAR_008624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008624	- Darier disease (DD) [MIM:124200]	SWISS	568	COG2216	24638454,NP_733765
488	114312	Disease	p.Phe675Ser	VAR_008624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008624	- Darier disease (DD) [MIM:124200]	SWISS	1365	COG0474	24638454,NP_733765
488	114312	Disease	p.Phe675Ser	VAR_008624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008624	- Darier disease (DD) [MIM:124200]	SWISS	949	COG2217	24638454,NP_733765
488	114312	Disease	p.Phe675Ser	VAR_008624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008624	- Darier disease (DD) [MIM:124200]	SWISS	431	pfam00702	24638454,NP_733765
488	114312	Disease	p.Lys683Glu	VAR_008625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008625	- Darier disease (DD) [MIM:124200]	SWISS	576	COG2216	24638454,NP_733765
488	114312	Disease	p.Lys683Glu	VAR_008625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008625	- Darier disease (DD) [MIM:124200]	SWISS	1373	COG0474	24638454,NP_733765
488	114312	Disease	p.Lys683Glu	VAR_008625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008625	- Darier disease (DD) [MIM:124200]	SWISS	957	COG2217	24638454,NP_733765
488	114312	Disease	p.Lys683Glu	VAR_008625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008625	- Darier disease (DD) [MIM:124200]	SWISS	439	pfam00702	24638454,NP_733765
488	114312	Disease	p.Asp702Asn	VAR_008626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008626	- Darier disease (DD) [MIM:124200]	SWISS	595	COG2216	24638454,NP_733765
488	114312	Disease	p.Asp702Asn	VAR_008626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008626	- Darier disease (DD) [MIM:124200]	SWISS	1394	COG0474	24638454,NP_733765
488	114312	Disease	p.Asp702Asn	VAR_008626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008626	- Darier disease (DD) [MIM:124200]	SWISS	986	COG2217	24638454,NP_733765
488	114312	Disease	p.Asp702Asn	VAR_008626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008626	- Darier disease (DD) [MIM:124200]	SWISS	460	pfam00702	24638454,NP_733765
488	114312	Disease	p.Ala745Asp	VAR_008627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008627	- Darier disease (DD) [MIM:124200]	SWISS	638	COG2216	24638454,NP_733765
488	114312	Disease	p.Ala745Asp	VAR_008627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008627	- Darier disease (DD) [MIM:124200]	SWISS	1555	COG0474	24638454,NP_733765
488	114312	Disease	p.Ala745Asp	VAR_008627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008627	- Darier disease (DD) [MIM:124200]	SWISS	1041	COG2217	24638454,NP_733765
488	114312	Disease	p.Gly749Arg	VAR_009509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009509	- Darier disease (DD) [MIM:124200]	SWISS	642	COG2216	24638454,NP_733765
488	114312	Disease	p.Gly749Arg	VAR_009509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009509	- Darier disease (DD) [MIM:124200]	SWISS	1559	COG0474	24638454,NP_733765
488	114312	Disease	p.Gly749Arg	VAR_009509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009509	- Darier disease (DD) [MIM:124200]	SWISS	1045	COG2217	24638454,NP_733765
488	114312	Disease	p.Ser765Leu	VAR_008629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008629	- Darier disease (DD) [MIM:124200]	SWISS	696	COG2216	24638454,NP_733765
488	114312	Disease	p.Ser765Leu	VAR_008629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008629	- Darier disease (DD) [MIM:124200]	SWISS	1575	COG0474	24638454,NP_733765
488	114312	Disease	p.Ser765Leu	VAR_008629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008629	- Darier disease (DD) [MIM:124200]	SWISS	1061	COG2217	24638454,NP_733765
488	114312	Disease	p.Asn767Ser	VAR_008630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008630	- Darier disease (DD) [MIM:124200]	SWISS	698	COG2216	24638454,NP_733765
488	114312	Disease	p.Asn767Ser	VAR_008630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008630	- Darier disease (DD) [MIM:124200]	SWISS	1577	COG0474	24638454,NP_733765
488	114312	Disease	p.Asn767Ser	VAR_008630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008630	- Darier disease (DD) [MIM:124200]	SWISS	1063	COG2217	24638454,NP_733765
488	114312	Disease	p.Gly769Arg	VAR_008631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008631	- Darier disease (DD) [MIM:124200]	SWISS	700	COG2216	24638454,NP_733765
488	114312	Disease	p.Gly769Arg	VAR_008631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008631	- Darier disease (DD) [MIM:124200]	SWISS	1579	COG0474	24638454,NP_733765
488	114312	Disease	p.Gly769Arg	VAR_008631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008631	- Darier disease (DD) [MIM:124200]	SWISS	1063_G	COG2217	24638454,NP_733765
488	114312	Disease	p.Ala803Thr	VAR_008632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008632	- Darier disease (DD) [MIM:124200]	SWISS	760	COG2216	24638454,NP_733765
488	114312	Disease	p.Ala803Thr	VAR_008632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008632	- Darier disease (DD) [MIM:124200]	SWISS	1626	COG0474	24638454,NP_733765
488	114312	Disease	p.Ala803Thr	VAR_008632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008632	- Darier disease (DD) [MIM:124200]	SWISS	1105	COG2217	24638454,NP_733765
488	114312	Disease	p.Ala803Thr	VAR_008632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008632	- Darier disease (DD) [MIM:124200]	SWISS	22	pfam00689	24638454,NP_733765
488	114312	Disease	p.Ala838Pro	VAR_008633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008633	- Darier disease (DD) [MIM:124200]	SWISS	1680	COG0474	24638454,NP_733765
488	114312	Disease	p.Ala838Pro	VAR_008633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008633	- Darier disease (DD) [MIM:124200]	SWISS	67	pfam00689	24638454,NP_733765
488	114312	Disease	p.Val843Phe	VAR_008634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008634	- Darier disease (DD) [MIM:124200]	SWISS	1685	COG0474	24638454,NP_733765
488	114312	Disease	p.Val843Phe	VAR_008634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008634	- Darier disease (DD) [MIM:124200]	SWISS	72	pfam00689	24638454,NP_733765
488	114312	Disease	p.Cys875Gly	VAR_008635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008635	- Darier disease (DD) [MIM:124200]	SWISS	1721	COG0474	24638454,NP_733765
488	114312	Disease	p.Cys875Gly	VAR_008635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008635	- Darier disease (DD) [MIM:124200]	SWISS	199	pfam00689	24638454,NP_733765
488	114312	Disease	p.Ser920Tyr	VAR_008636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008636	- Darier disease (DD) [MIM:124200]	SWISS	1766	COG0474	24638454,NP_733765
488	114312	Disease	p.Ser920Tyr	VAR_008636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008636	- Darier disease (DD) [MIM:124200]	SWISS	294	pfam00689	24638454,NP_733765
488	114312	Disease	p.His943Arg	VAR_008637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008637	- Darier disease (DD) [MIM:124200]	SWISS	1814	COG0474	24638454,NP_733765
488	114312	Disease	p.His943Arg	VAR_008637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008637	- Darier disease (DD) [MIM:124200]	SWISS	348	pfam00689	24638454,NP_733765
488	114312	Disease	p.Pro975Arg	VAR_008638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008638	- Darier disease (DD) [MIM:124200]	SWISS	1861	COG0474	24638454,NP_733765
488	114312	Disease	p.Pro975Arg	VAR_008638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008638	- Darier disease (DD) [MIM:124200]	SWISS	434	pfam00689	24638454,NP_733765
27032	68068024	Disease	p.Pro201Leu	VAR_010130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010130	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	328	COG0474	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Pro201Leu	VAR_010130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010130	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	493	COG2217	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Pro201Leu	VAR_010130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010130	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	219	pfam00122	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Pro201Leu	VAR_010130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010130	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	180_G	COG2216	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Ala304Thr	VAR_008803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008803	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	575	COG0474	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Ala304Thr	VAR_008803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008803	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	633	COG2217	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Ala304Thr	VAR_008803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008803	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	537	pfam00122	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Ala304Thr	VAR_008803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008803	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	269	COG2216	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Gly309Cys	VAR_022672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022672	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	580	COG0474	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Gly309Cys	VAR_022672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022672	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	638	COG2217	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Gly309Cys	VAR_022672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022672	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	542	pfam00122	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Gly309Cys	VAR_022672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022672	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	274	COG2216	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu318Pro	VAR_008804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008804	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	589	COG0474	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu318Pro	VAR_008804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008804	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	647	COG2217	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu318Pro	VAR_008804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008804	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	551	pfam00122	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu318Pro	VAR_008804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008804	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	283	COG2216	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu341Pro	VAR_022673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022673	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	622	COG0474	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu341Pro	VAR_022673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022673	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	670	COG2217	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu341Pro	VAR_022673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022673	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	325	COG2216	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Cys490Phe	VAR_019523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019523	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	1050	COG0474	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Cys490Phe	VAR_019523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019523	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	829	COG2217	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Cys490Phe	VAR_019523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019523	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	184	pfam00702	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Cys490Phe	VAR_019523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019523	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	464	COG2216	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu584Pro	VAR_019524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019524	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	29	COG4087	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu584Pro	VAR_019524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019524	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	1255	COG0474	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu584Pro	VAR_019524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019524	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	941	COG2217	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu584Pro	VAR_019524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019524	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	367	pfam00702	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Leu584Pro	VAR_019524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019524	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	562	COG2216	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Met641Arg	VAR_008805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008805	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	103	COG4087	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Met641Arg	VAR_008805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008805	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	1391	COG0474	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Met641Arg	VAR_008805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008805	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	983	COG2217	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Met641Arg	VAR_008805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008805	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	457	pfam00702	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Met641Arg	VAR_008805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008805	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	592	COG2216	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Gly645Arg	VAR_008806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008806	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	107	COG4087	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Gly645Arg	VAR_008806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008806	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	1395	COG0474	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Gly645Arg	VAR_008806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008806	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	987	COG2217	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Gly645Arg	VAR_008806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008806	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	461	pfam00702	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Gly645Arg	VAR_008806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008806	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	596	COG2216	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Thr709Met	VAR_008807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008807	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	1576	COG0474	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Thr709Met	VAR_008807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008807	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	1057_G	COG2217	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Thr709Met	VAR_008807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008807	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	696	COG2216	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Pro744Arg	VAR_008808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008808	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	1624	COG0474	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Pro744Arg	VAR_008808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008808	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	19	pfam00689	48762685,NP_055197|48762689,NP_001001486
27032	68068024	Disease	p.Pro744Arg	VAR_008808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008808	- Hailey-Hailey disease (HHD) [MIM:169600]	SWISS	743	COG2216	48762685,NP_055197|48762689,NP_001001486
50617	308153516	Disease	p.Gly175Asp	VAR_020993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020993	- Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]	SWISS	222	COG1269	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Gly175Asp	VAR_020993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020993	- Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]	SWISS	224	pfam01496	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Arg449His	VAR_020995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020995	- Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]	SWISS	557	COG1269	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Arg449His	VAR_020995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020995	- Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]	SWISS	501	pfam01496	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Pro524Leu	VAR_017255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017255	- Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]	SWISS	618	COG1269	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Pro524Leu	VAR_017255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017255	- Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]	SWISS	587	pfam01496	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Met580Thr	VAR_017256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017256	rs3807153 Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]	SWISS	686	COG1269	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Met580Thr	VAR_017256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017256	rs3807153 Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]	SWISS	647	pfam01496	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Arg807Gln	VAR_020996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020996	rs28939081 Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]	SWISS	931	COG1269	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Arg807Gln	VAR_020996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020996	rs28939081 Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]	SWISS	928	pfam01496	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Gly820Arg	VAR_017257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017257	- Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]	SWISS	946	COG1269	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
50617	308153516	Disease	p.Gly820Arg	VAR_017257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017257	- Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]	SWISS	942	pfam01496	85386056,NP_570855|85386547,NP_570856|85386053,NP_065683
525	215274116	Disease	p.Leu81Pro	VAR_007866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007866	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	47	COG1156	19913426,NP_001683
525	215274116	Disease	p.Leu81Pro	VAR_007866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007866	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	51	COG0055	19913426,NP_001683
525	215274116	Disease	p.Leu81Pro	VAR_007866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007866	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	41	COG1155	19913426,NP_001683
525	215274116	Disease	p.Leu81Pro	VAR_007866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007866	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	74	COG1157	19913426,NP_001683
525	215274116	Disease	p.Leu81Pro	VAR_007866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007866	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	68	COG0056	19913426,NP_001683
525	215274116	Disease	p.Leu81Pro	VAR_007866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007866	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	54	pfam02874	19913426,NP_001683
525	215274116	Disease	p.Gly123Val	VAR_021012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021012	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	89	COG1156	19913426,NP_001683
525	215274116	Disease	p.Gly123Val	VAR_021012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021012	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	97	COG0055	19913426,NP_001683
525	215274116	Disease	p.Gly123Val	VAR_021012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021012	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	82	COG1155	19913426,NP_001683
525	215274116	Disease	p.Gly123Val	VAR_021012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021012	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	139	COG1157	19913426,NP_001683
525	215274116	Disease	p.Gly123Val	VAR_021012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021012	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	12	cd01133	19913426,NP_001683
525	215274116	Disease	p.Gly123Val	VAR_021012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021012	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	12	cd01135	19913426,NP_001683
525	215274116	Disease	p.Gly123Val	VAR_021012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021012	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	12	cd01136	19913426,NP_001683
525	215274116	Disease	p.Gly123Val	VAR_021012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021012	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	12	cd01132	19913426,NP_001683
525	215274116	Disease	p.Gly123Val	VAR_021012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021012	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	111	COG0056	19913426,NP_001683
525	215274116	Disease	p.Arg124Trp	VAR_007867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007867	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	90	COG1156	19913426,NP_001683
525	215274116	Disease	p.Arg124Trp	VAR_007867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007867	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	98	COG0055	19913426,NP_001683
525	215274116	Disease	p.Arg124Trp	VAR_007867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007867	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	83	COG1155	19913426,NP_001683
525	215274116	Disease	p.Arg124Trp	VAR_007867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007867	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	140	COG1157	19913426,NP_001683
525	215274116	Disease	p.Arg124Trp	VAR_007867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007867	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	13	cd01133	19913426,NP_001683
525	215274116	Disease	p.Arg124Trp	VAR_007867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007867	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	13	cd01135	19913426,NP_001683
525	215274116	Disease	p.Arg124Trp	VAR_007867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007867	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	13	cd01136	19913426,NP_001683
525	215274116	Disease	p.Arg124Trp	VAR_007867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007867	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	13	cd01132	19913426,NP_001683
525	215274116	Disease	p.Arg124Trp	VAR_007867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007867	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	112	COG0056	19913426,NP_001683
525	215274116	Disease	p.Arg157Cys	VAR_021013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021013	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	123	COG1156	19913426,NP_001683
525	215274116	Disease	p.Arg157Cys	VAR_021013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021013	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	137	COG0055	19913426,NP_001683
525	215274116	Disease	p.Arg157Cys	VAR_021013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021013	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	127	COG1155	19913426,NP_001683
525	215274116	Disease	p.Arg157Cys	VAR_021013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021013	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	176	COG1157	19913426,NP_001683
525	215274116	Disease	p.Arg157Cys	VAR_021013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021013	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	50	cd01133	19913426,NP_001683
525	215274116	Disease	p.Arg157Cys	VAR_021013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021013	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	46	cd01135	19913426,NP_001683
525	215274116	Disease	p.Arg157Cys	VAR_021013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021013	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	50	cd01136	19913426,NP_001683
525	215274116	Disease	p.Arg157Cys	VAR_021013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021013	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	51	cd01132	19913426,NP_001683
525	215274116	Disease	p.Arg157Cys	VAR_021013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021013	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	152	COG0056	19913426,NP_001683
525	215274116	Disease	p.Met174Arg	VAR_007868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007868	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	140	COG1156	19913426,NP_001683
525	215274116	Disease	p.Met174Arg	VAR_007868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007868	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	154	COG0055	19913426,NP_001683
525	215274116	Disease	p.Met174Arg	VAR_007868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007868	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	153	COG1155	19913426,NP_001683
525	215274116	Disease	p.Met174Arg	VAR_007868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007868	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	193	COG1157	19913426,NP_001683
525	215274116	Disease	p.Met174Arg	VAR_007868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007868	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	67	cd01133	19913426,NP_001683
525	215274116	Disease	p.Met174Arg	VAR_007868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007868	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	63	cd01135	19913426,NP_001683
525	215274116	Disease	p.Met174Arg	VAR_007868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007868	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	67	cd01136	19913426,NP_001683
525	215274116	Disease	p.Met174Arg	VAR_007868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007868	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	68	cd01132	19913426,NP_001683
525	215274116	Disease	p.Met174Arg	VAR_007868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007868	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	9	pfam00006	19913426,NP_001683
525	215274116	Disease	p.Met174Arg	VAR_007868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007868	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	169	COG0056	19913426,NP_001683
525	215274116	Disease	p.Thr275Pro	VAR_007869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007869	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	242	COG1156	19913426,NP_001683
525	215274116	Disease	p.Thr275Pro	VAR_007869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007869	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	250	cd01120	19913426,NP_001683
525	215274116	Disease	p.Thr275Pro	VAR_007869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007869	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	265	COG0055	19913426,NP_001683
525	215274116	Disease	p.Thr275Pro	VAR_007869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007869	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	1220	COG1155	19913426,NP_001683
525	215274116	Disease	p.Thr275Pro	VAR_007869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007869	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	281	COG1157	19913426,NP_001683
525	215274116	Disease	p.Thr275Pro	VAR_007869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007869	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	193	cd01133	19913426,NP_001683
525	215274116	Disease	p.Thr275Pro	VAR_007869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007869	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	170	cd01135	19913426,NP_001683
525	215274116	Disease	p.Thr275Pro	VAR_007869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007869	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	155	cd01136	19913426,NP_001683
525	215274116	Disease	p.Thr275Pro	VAR_007869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007869	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	167	cd01132	19913426,NP_001683
525	215274116	Disease	p.Thr275Pro	VAR_007869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007869	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	586	pfam00006	19913426,NP_001683
525	215274116	Disease	p.Thr275Pro	VAR_007869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007869	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	266	COG0056	19913426,NP_001683
525	215274116	Disease	p.Gly316Glu	VAR_007870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007870	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	285	COG1156	19913426,NP_001683
525	215274116	Disease	p.Gly316Glu	VAR_007870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007870	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	293	cd01120	19913426,NP_001683
525	215274116	Disease	p.Gly316Glu	VAR_007870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007870	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	311	COG0055	19913426,NP_001683
525	215274116	Disease	p.Gly316Glu	VAR_007870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007870	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	1264	COG1155	19913426,NP_001683
525	215274116	Disease	p.Gly316Glu	VAR_007870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007870	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	321	COG1157	19913426,NP_001683
525	215274116	Disease	p.Gly316Glu	VAR_007870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007870	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	238	cd01133	19913426,NP_001683
525	215274116	Disease	p.Gly316Glu	VAR_007870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007870	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	728	cd01135	19913426,NP_001683
525	215274116	Disease	p.Gly316Glu	VAR_007870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007870	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	195	cd01136	19913426,NP_001683
525	215274116	Disease	p.Gly316Glu	VAR_007870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007870	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	215	cd01132	19913426,NP_001683
525	215274116	Disease	p.Gly316Glu	VAR_007870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007870	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	635	pfam00006	19913426,NP_001683
525	215274116	Disease	p.Gly316Glu	VAR_007870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007870	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	306	COG0056	19913426,NP_001683
525	215274116	Disease	p.Pro346Arg	VAR_007871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007871	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	315	COG1156	19913426,NP_001683
525	215274116	Disease	p.Pro346Arg	VAR_007871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007871	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	328	cd01120	19913426,NP_001683
525	215274116	Disease	p.Pro346Arg	VAR_007871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007871	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	339	COG0055	19913426,NP_001683
525	215274116	Disease	p.Pro346Arg	VAR_007871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007871	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	1299	COG1155	19913426,NP_001683
525	215274116	Disease	p.Pro346Arg	VAR_007871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007871	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	357	COG1157	19913426,NP_001683
525	215274116	Disease	p.Pro346Arg	VAR_007871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007871	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	266	cd01133	19913426,NP_001683
525	215274116	Disease	p.Pro346Arg	VAR_007871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007871	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	758	cd01135	19913426,NP_001683
525	215274116	Disease	p.Pro346Arg	VAR_007871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007871	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	231	cd01136	19913426,NP_001683
525	215274116	Disease	p.Pro346Arg	VAR_007871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007871	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	265	cd01132	19913426,NP_001683
525	215274116	Disease	p.Pro346Arg	VAR_007871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007871	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	703	pfam00006	19913426,NP_001683
525	215274116	Disease	p.Pro346Arg	VAR_007871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007871	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	349	COG0056	19913426,NP_001683
525	215274116	Disease	p.Gly364Ser	VAR_007872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007872	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	333	COG1156	19913426,NP_001683
525	215274116	Disease	p.Gly364Ser	VAR_007872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007872	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	375	cd01120	19913426,NP_001683
525	215274116	Disease	p.Gly364Ser	VAR_007872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007872	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	356	COG0055	19913426,NP_001683
525	215274116	Disease	p.Gly364Ser	VAR_007872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007872	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	1317	COG1155	19913426,NP_001683
525	215274116	Disease	p.Gly364Ser	VAR_007872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007872	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	375	COG1157	19913426,NP_001683
525	215274116	Disease	p.Gly364Ser	VAR_007872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007872	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	284	cd01133	19913426,NP_001683
525	215274116	Disease	p.Gly364Ser	VAR_007872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007872	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	776	cd01135	19913426,NP_001683
525	215274116	Disease	p.Gly364Ser	VAR_007872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007872	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	249	cd01136	19913426,NP_001683
525	215274116	Disease	p.Gly364Ser	VAR_007872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007872	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	283	cd01132	19913426,NP_001683
525	215274116	Disease	p.Gly364Ser	VAR_007872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007872	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	726	pfam00006	19913426,NP_001683
525	215274116	Disease	p.Gly364Ser	VAR_007872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007872	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	367	COG0056	19913426,NP_001683
525	215274116	Disease	p.Arg465His	VAR_021015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021015	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	434	COG1156	19913426,NP_001683
525	215274116	Disease	p.Arg465His	VAR_021015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021015	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	452	COG0055	19913426,NP_001683
525	215274116	Disease	p.Arg465His	VAR_021015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021015	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	1441	COG1155	19913426,NP_001683
525	215274116	Disease	p.Arg465His	VAR_021015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021015	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	472	COG1157	19913426,NP_001683
525	215274116	Disease	p.Arg465His	VAR_021015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021015	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	502	COG0056	19913426,NP_001683
525	215274116	Disease	p.Arg465His	VAR_021015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021015	- Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]	SWISS	81	pfam00306	19913426,NP_001683
538	223590241	Disease	p.Ala629Pro	VAR_000699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000699	- Menkes disease (MNKD) [MIM:309400]	SWISS	71	cd00371	115529486,NP_000043
538	223590241	Disease	p.Ala629Pro	VAR_000699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000699	- Menkes disease (MNKD) [MIM:309400]	SWISS	126	COG2608	115529486,NP_000043
538	223590241	Disease	p.Ala629Pro	VAR_000699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000699	- Menkes disease (MNKD) [MIM:309400]	SWISS	156	COG2217	115529486,NP_000043
538	223590241	Disease	p.Ser637Leu	VAR_009999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009999	rs28936068 Occipital horn syndrome (OHS) [MIM:304150]	SWISS	188	COG2217	115529486,NP_000043
538	223590241	Disease	p.Leu706Arg	VAR_023261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023261	- Menkes disease (MNKD) [MIM:309400]	SWISS	25	COG0474	115529486,NP_000043
538	223590241	Disease	p.Leu706Arg	VAR_023261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023261	- Menkes disease (MNKD) [MIM:309400]	SWISS	254	COG2217	115529486,NP_000043
538	223590241	Disease	p.Gly727Arg	VAR_000700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000700	- Menkes disease (MNKD) [MIM:309400]	SWISS	106	COG0474	115529486,NP_000043
538	223590241	Disease	p.Gly727Arg	VAR_000700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000700	- Menkes disease (MNKD) [MIM:309400]	SWISS	275	COG2217	115529486,NP_000043
538	223590241	Disease	p.Gly727Arg	VAR_000700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000700	- Menkes disease (MNKD) [MIM:309400]	SWISS	6	COG2216	115529486,NP_000043
538	223590241	Disease	p.Arg844His	VAR_023262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023262	- Menkes disease (MNKD) [MIM:309400]	SWISS	277	COG0474	115529486,NP_000043
538	223590241	Disease	p.Arg844His	VAR_023262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023262	- Menkes disease (MNKD) [MIM:309400]	SWISS	450	COG2217	115529486,NP_000043
538	223590241	Disease	p.Arg844His	VAR_023262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023262	- Menkes disease (MNKD) [MIM:309400]	SWISS	112	pfam00122	115529486,NP_000043
538	223590241	Disease	p.Arg844His	VAR_023262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023262	- Menkes disease (MNKD) [MIM:309400]	SWISS	138	COG2216	115529486,NP_000043
538	223590241	Disease	p.Gly853Arg	VAR_023263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023263	- Menkes disease (MNKD) [MIM:309400]	SWISS	289	COG0474	115529486,NP_000043
538	223590241	Disease	p.Gly853Arg	VAR_023263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023263	- Menkes disease (MNKD) [MIM:309400]	SWISS	459	COG2217	115529486,NP_000043
538	223590241	Disease	p.Gly853Arg	VAR_023263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023263	- Menkes disease (MNKD) [MIM:309400]	SWISS	122	pfam00122	115529486,NP_000043
538	223590241	Disease	p.Gly853Arg	VAR_023263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023263	- Menkes disease (MNKD) [MIM:309400]	SWISS	147	COG2216	115529486,NP_000043
538	223590241	Disease	p.Gly860Val	VAR_023264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023264	- Menkes disease (MNKD) [MIM:309400]	SWISS	296	COG0474	115529486,NP_000043
538	223590241	Disease	p.Gly860Val	VAR_023264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023264	- Menkes disease (MNKD) [MIM:309400]	SWISS	466	COG2217	115529486,NP_000043
538	223590241	Disease	p.Gly860Val	VAR_023264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023264	- Menkes disease (MNKD) [MIM:309400]	SWISS	129	pfam00122	115529486,NP_000043
538	223590241	Disease	p.Gly860Val	VAR_023264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023264	- Menkes disease (MNKD) [MIM:309400]	SWISS	154	COG2216	115529486,NP_000043
538	223590241	Disease	p.Leu873Arg	VAR_010001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010001	- Menkes disease (MNKD) [MIM:309400]	SWISS	314	COG0474	115529486,NP_000043
538	223590241	Disease	p.Leu873Arg	VAR_010001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010001	- Menkes disease (MNKD) [MIM:309400]	SWISS	479	COG2217	115529486,NP_000043
538	223590241	Disease	p.Leu873Arg	VAR_010001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010001	- Menkes disease (MNKD) [MIM:309400]	SWISS	198	pfam00122	115529486,NP_000043
538	223590241	Disease	p.Leu873Arg	VAR_010001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010001	- Menkes disease (MNKD) [MIM:309400]	SWISS	167	COG2216	115529486,NP_000043
538	223590241	Disease	p.Gly876Glu	VAR_010002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010002	- Menkes disease (MNKD) [MIM:309400]	SWISS	317	COG0474	115529486,NP_000043
538	223590241	Disease	p.Gly876Glu	VAR_010002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010002	- Menkes disease (MNKD) [MIM:309400]	SWISS	482	COG2217	115529486,NP_000043
538	223590241	Disease	p.Gly876Glu	VAR_010002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010002	- Menkes disease (MNKD) [MIM:309400]	SWISS	201	pfam00122	115529486,NP_000043
538	223590241	Disease	p.Gly876Glu	VAR_010002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010002	- Menkes disease (MNKD) [MIM:309400]	SWISS	170	COG2216	115529486,NP_000043
538	223590241	Disease	p.Gly876Arg	VAR_023265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023265	- Menkes disease (MNKD) [MIM:309400]	SWISS	317	COG0474	115529486,NP_000043
538	223590241	Disease	p.Gly876Arg	VAR_023265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023265	- Menkes disease (MNKD) [MIM:309400]	SWISS	482	COG2217	115529486,NP_000043
538	223590241	Disease	p.Gly876Arg	VAR_023265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023265	- Menkes disease (MNKD) [MIM:309400]	SWISS	201	pfam00122	115529486,NP_000043
538	223590241	Disease	p.Gly876Arg	VAR_023265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023265	- Menkes disease (MNKD) [MIM:309400]	SWISS	170	COG2216	115529486,NP_000043
538	223590241	Disease	p.Gln924Arg	VAR_023266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023266	- Menkes disease (MNKD) [MIM:309400]	SWISS	503	COG0474	115529486,NP_000043
538	223590241	Disease	p.Gln924Arg	VAR_023266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023266	- Menkes disease (MNKD) [MIM:309400]	SWISS	543	COG2217	115529486,NP_000043
538	223590241	Disease	p.Gln924Arg	VAR_023266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023266	- Menkes disease (MNKD) [MIM:309400]	SWISS	337	pfam00122	115529486,NP_000043
538	223590241	Disease	p.Gln924Arg	VAR_023266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023266	- Menkes disease (MNKD) [MIM:309400]	SWISS	222	COG2216	115529486,NP_000043
538	223590241	Disease	p.Cys1000Arg	VAR_010003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010003	- Menkes disease (MNKD) [MIM:309400]	SWISS	577	COG0474	115529486,NP_000043
538	223590241	Disease	p.Cys1000Arg	VAR_010003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010003	- Menkes disease (MNKD) [MIM:309400]	SWISS	635	COG2217	115529486,NP_000043
538	223590241	Disease	p.Cys1000Arg	VAR_010003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010003	- Menkes disease (MNKD) [MIM:309400]	SWISS	539	pfam00122	115529486,NP_000043
538	223590241	Disease	p.Cys1000Arg	VAR_010003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010003	- Menkes disease (MNKD) [MIM:309400]	SWISS	285	COG2216	115529486,NP_000043
538	223590241	Disease	p.Leu1006Pro	VAR_000701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000701	- Menkes disease (MNKD) [MIM:309400]	SWISS	583	COG0474	115529486,NP_000043
538	223590241	Disease	p.Leu1006Pro	VAR_000701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000701	- Menkes disease (MNKD) [MIM:309400]	SWISS	641	COG2217	115529486,NP_000043
538	223590241	Disease	p.Leu1006Pro	VAR_000701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000701	- Menkes disease (MNKD) [MIM:309400]	SWISS	545	pfam00122	115529486,NP_000043
538	223590241	Disease	p.Leu1006Pro	VAR_000701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000701	- Menkes disease (MNKD) [MIM:309400]	SWISS	291	COG2216	115529486,NP_000043
538	223590241	Disease	p.Ala1007Val	VAR_023267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023267	- Menkes disease (MNKD) [MIM:309400]	SWISS	584	COG0474	115529486,NP_000043
538	223590241	Disease	p.Ala1007Val	VAR_023267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023267	- Menkes disease (MNKD) [MIM:309400]	SWISS	642	COG2217	115529486,NP_000043
538	223590241	Disease	p.Ala1007Val	VAR_023267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023267	- Menkes disease (MNKD) [MIM:309400]	SWISS	546	pfam00122	115529486,NP_000043
538	223590241	Disease	p.Ala1007Val	VAR_023267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023267	- Menkes disease (MNKD) [MIM:309400]	SWISS	292	COG2216	115529486,NP_000043
538	223590241	Disease	p.Gly1015Asp	VAR_023268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023268	- Menkes disease (MNKD) [MIM:309400]	SWISS	592	COG0474	115529486,NP_000043
538	223590241	Disease	p.Gly1015Asp	VAR_023268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023268	- Menkes disease (MNKD) [MIM:309400]	SWISS	650	COG2217	115529486,NP_000043
538	223590241	Disease	p.Gly1015Asp	VAR_023268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023268	- Menkes disease (MNKD) [MIM:309400]	SWISS	554	pfam00122	115529486,NP_000043
538	223590241	Disease	p.Gly1015Asp	VAR_023268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023268	- Menkes disease (MNKD) [MIM:309400]	SWISS	300	COG2216	115529486,NP_000043
538	223590241	Disease	p.Gly1019Asp	VAR_000702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000702	- Menkes disease (MNKD) [MIM:309400]	SWISS	596	COG0474	115529486,NP_000043
538	223590241	Disease	p.Gly1019Asp	VAR_000702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000702	- Menkes disease (MNKD) [MIM:309400]	SWISS	654	COG2217	115529486,NP_000043
538	223590241	Disease	p.Gly1019Asp	VAR_000702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000702	- Menkes disease (MNKD) [MIM:309400]	SWISS	558	pfam00122	115529486,NP_000043
538	223590241	Disease	p.Gly1019Asp	VAR_000702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000702	- Menkes disease (MNKD) [MIM:309400]	SWISS	304	COG2216	115529486,NP_000043
538	223590241	Disease	p.Asp1044Gly	VAR_023269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023269	- Menkes disease (MNKD) [MIM:309400]	SWISS	7	pfam00702	115529486,NP_000043
538	223590241	Disease	p.Asp1044Gly	VAR_023269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023269	- Menkes disease (MNKD) [MIM:309400]	SWISS	631	COG0474	115529486,NP_000043
538	223590241	Disease	p.Asp1044Gly	VAR_023269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023269	- Menkes disease (MNKD) [MIM:309400]	SWISS	679	COG2217	115529486,NP_000043
538	223590241	Disease	p.Asp1044Gly	VAR_023269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023269	- Menkes disease (MNKD) [MIM:309400]	SWISS	334	COG2216	115529486,NP_000043
538	223590241	Disease	p.Leu1100Pro	VAR_023270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023270	- Menkes disease (MNKD) [MIM:309400]	SWISS	132	pfam00702	115529486,NP_000043
538	223590241	Disease	p.Leu1100Pro	VAR_023270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023270	- Menkes disease (MNKD) [MIM:309400]	SWISS	781	COG0474	115529486,NP_000043
538	223590241	Disease	p.Leu1100Pro	VAR_023270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023270	- Menkes disease (MNKD) [MIM:309400]	SWISS	765	COG2217	115529486,NP_000043
538	223590241	Disease	p.Leu1100Pro	VAR_023270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023270	- Menkes disease (MNKD) [MIM:309400]	SWISS	387	COG2216	115529486,NP_000043
538	223590241	Disease	p.Gly1118Asp	VAR_023271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023271	- Menkes disease (MNKD) [MIM:309400]	SWISS	150	pfam00702	115529486,NP_000043
538	223590241	Disease	p.Gly1118Asp	VAR_023271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023271	- Menkes disease (MNKD) [MIM:309400]	SWISS	813	COG0474	115529486,NP_000043
538	223590241	Disease	p.Gly1118Asp	VAR_023271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023271	- Menkes disease (MNKD) [MIM:309400]	SWISS	807	COG2217	115529486,NP_000043
538	223590241	Disease	p.Gly1118Asp	VAR_023271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023271	- Menkes disease (MNKD) [MIM:309400]	SWISS	406	COG2216	115529486,NP_000043
538	223590241	Disease	p.Gly1255Arg	VAR_023272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023272	- Menkes disease (MNKD) [MIM:309400]	SWISS	337	pfam00702	115529486,NP_000043
538	223590241	Disease	p.Gly1255Arg	VAR_023272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023272	- Menkes disease (MNKD) [MIM:309400]	SWISS	1242	COG0474	115529486,NP_000043
538	223590241	Disease	p.Gly1255Arg	VAR_023272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023272	- Menkes disease (MNKD) [MIM:309400]	SWISS	54	COG4087	115529486,NP_000043
538	223590241	Disease	p.Gly1255Arg	VAR_023272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023272	- Menkes disease (MNKD) [MIM:309400]	SWISS	125	COG0560	115529486,NP_000043
538	223590241	Disease	p.Gly1255Arg	VAR_023272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023272	- Menkes disease (MNKD) [MIM:309400]	SWISS	928	COG2217	115529486,NP_000043
538	223590241	Disease	p.Gly1255Arg	VAR_023272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023272	- Menkes disease (MNKD) [MIM:309400]	SWISS	549	COG2216	115529486,NP_000043
538	223590241	Disease	p.Lys1282Glu	VAR_023273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023273	- Menkes disease (MNKD) [MIM:309400]	SWISS	421	pfam00702	115529486,NP_000043
538	223590241	Disease	p.Lys1282Glu	VAR_023273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023273	- Menkes disease (MNKD) [MIM:309400]	SWISS	1373	COG0474	115529486,NP_000043
538	223590241	Disease	p.Lys1282Glu	VAR_023273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023273	- Menkes disease (MNKD) [MIM:309400]	SWISS	85	COG4087	115529486,NP_000043
538	223590241	Disease	p.Lys1282Glu	VAR_023273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023273	- Menkes disease (MNKD) [MIM:309400]	SWISS	176	COG0560	115529486,NP_000043
538	223590241	Disease	p.Lys1282Glu	VAR_023273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023273	- Menkes disease (MNKD) [MIM:309400]	SWISS	957	COG2217	115529486,NP_000043
538	223590241	Disease	p.Lys1282Glu	VAR_023273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023273	- Menkes disease (MNKD) [MIM:309400]	SWISS	576	COG2216	115529486,NP_000043
538	223590241	Disease	p.Gly1300Glu	VAR_010004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010004	- Menkes disease (MNKD) [MIM:309400]	SWISS	459	pfam00702	115529486,NP_000043
538	223590241	Disease	p.Gly1300Glu	VAR_010004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010004	- Menkes disease (MNKD) [MIM:309400]	SWISS	1393	COG0474	115529486,NP_000043
538	223590241	Disease	p.Gly1300Glu	VAR_010004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010004	- Menkes disease (MNKD) [MIM:309400]	SWISS	105	COG4087	115529486,NP_000043
538	223590241	Disease	p.Gly1300Glu	VAR_010004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010004	- Menkes disease (MNKD) [MIM:309400]	SWISS	201	COG0560	115529486,NP_000043
538	223590241	Disease	p.Gly1300Glu	VAR_010004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010004	- Menkes disease (MNKD) [MIM:309400]	SWISS	985	COG2217	115529486,NP_000043
538	223590241	Disease	p.Gly1300Glu	VAR_010004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010004	- Menkes disease (MNKD) [MIM:309400]	SWISS	594	COG2216	115529486,NP_000043
538	223590241	Disease	p.Gly1302Arg	VAR_010005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010005	- Menkes disease (MNKD) [MIM:309400]	SWISS	461	pfam00702	115529486,NP_000043
538	223590241	Disease	p.Gly1302Arg	VAR_010005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010005	- Menkes disease (MNKD) [MIM:309400]	SWISS	1395	COG0474	115529486,NP_000043
538	223590241	Disease	p.Gly1302Arg	VAR_010005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010005	- Menkes disease (MNKD) [MIM:309400]	SWISS	107	COG4087	115529486,NP_000043
538	223590241	Disease	p.Gly1302Arg	VAR_010005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010005	- Menkes disease (MNKD) [MIM:309400]	SWISS	203	COG0560	115529486,NP_000043
538	223590241	Disease	p.Gly1302Arg	VAR_010005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010005	- Menkes disease (MNKD) [MIM:309400]	SWISS	987	COG2217	115529486,NP_000043
538	223590241	Disease	p.Gly1302Arg	VAR_010005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010005	- Menkes disease (MNKD) [MIM:309400]	SWISS	596	COG2216	115529486,NP_000043
538	223590241	Disease	p.Gly1302Val	VAR_010006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010006	- Menkes disease (MNKD) [MIM:309400]	SWISS	461	pfam00702	115529486,NP_000043
538	223590241	Disease	p.Gly1302Val	VAR_010006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010006	- Menkes disease (MNKD) [MIM:309400]	SWISS	1395	COG0474	115529486,NP_000043
538	223590241	Disease	p.Gly1302Val	VAR_010006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010006	- Menkes disease (MNKD) [MIM:309400]	SWISS	107	COG4087	115529486,NP_000043
538	223590241	Disease	p.Gly1302Val	VAR_010006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010006	- Menkes disease (MNKD) [MIM:309400]	SWISS	203	COG0560	115529486,NP_000043
538	223590241	Disease	p.Gly1302Val	VAR_010006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010006	- Menkes disease (MNKD) [MIM:309400]	SWISS	987	COG2217	115529486,NP_000043
538	223590241	Disease	p.Gly1302Val	VAR_010006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010006	- Menkes disease (MNKD) [MIM:309400]	SWISS	596	COG2216	115529486,NP_000043
538	223590241	Disease	p.Asn1304Lys	VAR_023274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023274	- Menkes disease (MNKD) [MIM:309400]	SWISS	463	pfam00702	115529486,NP_000043
538	223590241	Disease	p.Asn1304Lys	VAR_023274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023274	- Menkes disease (MNKD) [MIM:309400]	SWISS	1397	COG0474	115529486,NP_000043
538	223590241	Disease	p.Asn1304Lys	VAR_023274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023274	- Menkes disease (MNKD) [MIM:309400]	SWISS	109	COG4087	115529486,NP_000043
538	223590241	Disease	p.Asn1304Lys	VAR_023274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023274	- Menkes disease (MNKD) [MIM:309400]	SWISS	205	COG0560	115529486,NP_000043
538	223590241	Disease	p.Asn1304Lys	VAR_023274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023274	- Menkes disease (MNKD) [MIM:309400]	SWISS	989	COG2217	115529486,NP_000043
538	223590241	Disease	p.Asn1304Lys	VAR_023274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023274	- Menkes disease (MNKD) [MIM:309400]	SWISS	598	COG2216	115529486,NP_000043
538	223590241	Disease	p.Asp1305Ala	VAR_010007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010007	- Menkes disease (MNKD) [MIM:309400]	SWISS	464	pfam00702	115529486,NP_000043
538	223590241	Disease	p.Asp1305Ala	VAR_010007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010007	- Menkes disease (MNKD) [MIM:309400]	SWISS	1398	COG0474	115529486,NP_000043
538	223590241	Disease	p.Asp1305Ala	VAR_010007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010007	- Menkes disease (MNKD) [MIM:309400]	SWISS	110	COG4087	115529486,NP_000043
538	223590241	Disease	p.Asp1305Ala	VAR_010007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010007	- Menkes disease (MNKD) [MIM:309400]	SWISS	206	COG0560	115529486,NP_000043
538	223590241	Disease	p.Asp1305Ala	VAR_010007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010007	- Menkes disease (MNKD) [MIM:309400]	SWISS	990	COG2217	115529486,NP_000043
538	223590241	Disease	p.Asp1305Ala	VAR_010007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010007	- Menkes disease (MNKD) [MIM:309400]	SWISS	599	COG2216	115529486,NP_000043
538	223590241	Disease	p.Gly1315Arg	VAR_023275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023275	- Menkes disease (MNKD) [MIM:309400]	SWISS	1408	COG0474	115529486,NP_000043
538	223590241	Disease	p.Gly1315Arg	VAR_023275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023275	- Menkes disease (MNKD) [MIM:309400]	SWISS	120	COG4087	115529486,NP_000043
538	223590241	Disease	p.Gly1315Arg	VAR_023275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023275	- Menkes disease (MNKD) [MIM:309400]	SWISS	216	COG0560	115529486,NP_000043
538	223590241	Disease	p.Gly1315Arg	VAR_023275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023275	- Menkes disease (MNKD) [MIM:309400]	SWISS	1000	COG2217	115529486,NP_000043
538	223590241	Disease	p.Gly1315Arg	VAR_023275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023275	- Menkes disease (MNKD) [MIM:309400]	SWISS	609	COG2216	115529486,NP_000043
538	223590241	Disease	p.Ala1325Val	VAR_023276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023276	- Menkes disease (MNKD) [MIM:309400]	SWISS	1488	COG0474	115529486,NP_000043
538	223590241	Disease	p.Ala1325Val	VAR_023276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023276	- Menkes disease (MNKD) [MIM:309400]	SWISS	134	COG4087	115529486,NP_000043
538	223590241	Disease	p.Ala1325Val	VAR_023276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023276	- Menkes disease (MNKD) [MIM:309400]	SWISS	226	COG0560	115529486,NP_000043
538	223590241	Disease	p.Ala1325Val	VAR_023276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023276	- Menkes disease (MNKD) [MIM:309400]	SWISS	1016	COG2217	115529486,NP_000043
538	223590241	Disease	p.Ala1325Val	VAR_023276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023276	- Menkes disease (MNKD) [MIM:309400]	SWISS	619	COG2216	115529486,NP_000043
538	223590241	Disease	p.Ser1344Arg	VAR_023277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023277	- Menkes disease (MNKD) [MIM:309400]	SWISS	1555	COG0474	115529486,NP_000043
538	223590241	Disease	p.Ser1344Arg	VAR_023277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023277	- Menkes disease (MNKD) [MIM:309400]	SWISS	152_G	COG4087	115529486,NP_000043
538	223590241	Disease	p.Ser1344Arg	VAR_023277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023277	- Menkes disease (MNKD) [MIM:309400]	SWISS	247	COG0560	115529486,NP_000043
538	223590241	Disease	p.Ser1344Arg	VAR_023277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023277	- Menkes disease (MNKD) [MIM:309400]	SWISS	1041	COG2217	115529486,NP_000043
538	223590241	Disease	p.Ser1344Arg	VAR_023277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023277	- Menkes disease (MNKD) [MIM:309400]	SWISS	675	COG2216	115529486,NP_000043
538	223590241	Disease	p.Ile1345Phe	VAR_023278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023278	- Menkes disease (MNKD) [MIM:309400]	SWISS	1556	COG0474	115529486,NP_000043
538	223590241	Disease	p.Ile1345Phe	VAR_023278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023278	- Menkes disease (MNKD) [MIM:309400]	SWISS	153	COG4087	115529486,NP_000043
538	223590241	Disease	p.Ile1345Phe	VAR_023278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023278	- Menkes disease (MNKD) [MIM:309400]	SWISS	248	COG0560	115529486,NP_000043
538	223590241	Disease	p.Ile1345Phe	VAR_023278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023278	- Menkes disease (MNKD) [MIM:309400]	SWISS	1042	COG2217	115529486,NP_000043
538	223590241	Disease	p.Ile1345Phe	VAR_023278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023278	- Menkes disease (MNKD) [MIM:309400]	SWISS	676	COG2216	115529486,NP_000043
538	223590241	Disease	p.Ala1362Val	VAR_010008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010008	- Menkes disease (MNKD) [MIM:309400]	SWISS	1573	COG0474	115529486,NP_000043
538	223590241	Disease	p.Ala1362Val	VAR_010008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010008	- Menkes disease (MNKD) [MIM:309400]	SWISS	1059	COG2217	115529486,NP_000043
538	223590241	Disease	p.Ala1362Val	VAR_010008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010008	- Menkes disease (MNKD) [MIM:309400]	SWISS	704	COG2216	115529486,NP_000043
538	223590241	Disease	p.Gly1369Arg	VAR_023279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023279	- Menkes disease (MNKD) [MIM:309400]	SWISS	1581	COG0474	115529486,NP_000043
538	223590241	Disease	p.Gly1369Arg	VAR_023279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023279	- Menkes disease (MNKD) [MIM:309400]	SWISS	1066	COG2217	115529486,NP_000043
538	223590241	Disease	p.Gly1369Arg	VAR_023279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023279	- Menkes disease (MNKD) [MIM:309400]	SWISS	715	COG2216	115529486,NP_000043
538	223590241	Disease	p.Ser1397Phe	VAR_023280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023280	- Menkes disease (MNKD) [MIM:309400]	SWISS	1623	COG0474	115529486,NP_000043
538	223590241	Disease	p.Ser1397Phe	VAR_023280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023280	- Menkes disease (MNKD) [MIM:309400]	SWISS	1098	COG2217	115529486,NP_000043
540	239938919	Disease	p.Asn41Ser	VAR_023011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023011	- Wilson disease (WD) [MIM:277900]	SWISS	No Domain	N/A	55743071,NP_000044
540	239938919	Disease	p.Gly85Val	VAR_000703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000703	- Wilson disease (WD) [MIM:277900]	SWISS	29	COG2608	55743071,NP_000044
540	239938919	Disease	p.Gly85Val	VAR_000703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000703	- Wilson disease (WD) [MIM:277900]	SWISS	26	cd00371	55743071,NP_000044
540	239938919	Disease	p.Gly85Val	VAR_000703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000703	- Wilson disease (WD) [MIM:277900]	SWISS	26	pfam00403	55743071,NP_000044
540	239938919	Disease	p.Ala486Ser	VAR_044454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044454	- Wilson disease (WD) [MIM:277900]	SWISS	No Domain	N/A	55743071,NP_000044
540	239938919	Disease	p.Leu492Ser	VAR_000710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000710	- Wilson disease (WD) [MIM:277900]	SWISS	2	cd00371	55743071,NP_000044
540	239938919	Disease	p.Leu492Ser	VAR_000710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000710	- Wilson disease (WD) [MIM:277900]	SWISS	2	pfam00403	55743071,NP_000044
540	239938919	Disease	p.Leu492Ser	VAR_000710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000710	- Wilson disease (WD) [MIM:277900]	SWISS	6	COG2608	55743071,NP_000044
540	239938919	Disease	p.Tyr532His	VAR_044455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044455	- Wilson disease (WD) [MIM:277900]	SWISS	46	cd00371	55743071,NP_000044
540	239938919	Disease	p.Tyr532His	VAR_044455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044455	- Wilson disease (WD) [MIM:277900]	SWISS	47	pfam00403	55743071,NP_000044
540	239938919	Disease	p.Tyr532His	VAR_044455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044455	- Wilson disease (WD) [MIM:277900]	SWISS	92	COG2608	55743071,NP_000044
540	239938919	Disease	p.Val536Ala	VAR_058925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058925	- Wilson disease (WD) [MIM:277900]	SWISS	54	cd00371	55743071,NP_000044
540	239938919	Disease	p.Val536Ala	VAR_058925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058925	- Wilson disease (WD) [MIM:277900]	SWISS	55	pfam00403	55743071,NP_000044
540	239938919	Disease	p.Val536Ala	VAR_058925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058925	- Wilson disease (WD) [MIM:277900]	SWISS	96	COG2608	55743071,NP_000044
540	239938919	Disease	p.Gly591Asp	VAR_044456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044456	- Wilson disease (WD) [MIM:277900]	SWISS	26	pfam00403	55743071,NP_000044
540	239938919	Disease	p.Gly591Asp	VAR_044456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044456	- Wilson disease (WD) [MIM:277900]	SWISS	26	cd00371	55743071,NP_000044
540	239938919	Disease	p.Gly591Asp	VAR_044456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044456	- Wilson disease (WD) [MIM:277900]	SWISS	29	COG2608	55743071,NP_000044
540	239938919	Disease	p.Gly591Asp	VAR_044456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044456	- Wilson disease (WD) [MIM:277900]	SWISS	60	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ala604Pro	VAR_044457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044457	- Wilson disease (WD) [MIM:277900]	SWISS	43	pfam00403	55743071,NP_000044
540	239938919	Disease	p.Ala604Pro	VAR_044457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044457	- Wilson disease (WD) [MIM:277900]	SWISS	42	cd00371	55743071,NP_000044
540	239938919	Disease	p.Ala604Pro	VAR_044457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044457	- Wilson disease (WD) [MIM:277900]	SWISS	88	COG2608	55743071,NP_000044
540	239938919	Disease	p.Ala604Pro	VAR_044457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044457	- Wilson disease (WD) [MIM:277900]	SWISS	73	COG2217	55743071,NP_000044
540	239938919	Disease	p.Arg616Gln	VAR_009004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009004	- Wilson disease (WD) [MIM:277900]	SWISS	67	pfam00403	55743071,NP_000044
540	239938919	Disease	p.Arg616Gln	VAR_009004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009004	- Wilson disease (WD) [MIM:277900]	SWISS	58	cd00371	55743071,NP_000044
540	239938919	Disease	p.Arg616Gln	VAR_009004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009004	- Wilson disease (WD) [MIM:277900]	SWISS	100	COG2608	55743071,NP_000044
540	239938919	Disease	p.Arg616Gln	VAR_009004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009004	- Wilson disease (WD) [MIM:277900]	SWISS	143	COG2217	55743071,NP_000044
540	239938919	Disease	p.Arg616Trp	VAR_023012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023012	- Wilson disease (WD) [MIM:277900]	SWISS	67	pfam00403	55743071,NP_000044
540	239938919	Disease	p.Arg616Trp	VAR_023012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023012	- Wilson disease (WD) [MIM:277900]	SWISS	58	cd00371	55743071,NP_000044
540	239938919	Disease	p.Arg616Trp	VAR_023012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023012	- Wilson disease (WD) [MIM:277900]	SWISS	100	COG2608	55743071,NP_000044
540	239938919	Disease	p.Arg616Trp	VAR_023012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023012	- Wilson disease (WD) [MIM:277900]	SWISS	143	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly626Ala	VAR_000712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000712	- Wilson disease (WD) [MIM:277900]	SWISS	83	pfam00403	55743071,NP_000044
540	239938919	Disease	p.Gly626Ala	VAR_000712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000712	- Wilson disease (WD) [MIM:277900]	SWISS	68	cd00371	55743071,NP_000044
540	239938919	Disease	p.Gly626Ala	VAR_000712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000712	- Wilson disease (WD) [MIM:277900]	SWISS	123	COG2608	55743071,NP_000044
540	239938919	Disease	p.Gly626Ala	VAR_000712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000712	- Wilson disease (WD) [MIM:277900]	SWISS	153	COG2217	55743071,NP_000044
540	239938919	Disease	p.His639Tyr	VAR_044458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044458	- Wilson disease (WD) [MIM:277900]	SWISS	184	COG2217	55743071,NP_000044
540	239938919	Disease	p.Leu641Ser	VAR_023013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023013	- Wilson disease (WD) [MIM:277900]	SWISS	186	COG2217	55743071,NP_000044
540	239938919	Disease	p.Asp642His	VAR_000713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000713	- Wilson disease (WD) [MIM:277900]	SWISS	187	COG2217	55743071,NP_000044
540	239938919	Disease	p.Met645Arg	VAR_000714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000714	- Wilson disease (WD) [MIM:277900]	SWISS	190	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ser653Tyr	VAR_044459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044459	- Wilson disease (WD) [MIM:277900]	SWISS	9	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ser653Tyr	VAR_044459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044459	- Wilson disease (WD) [MIM:277900]	SWISS	210	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ser657Arg	VAR_058926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058926	- Wilson disease (WD) [MIM:277900]	SWISS	13	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ser657Arg	VAR_058926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058926	- Wilson disease (WD) [MIM:277900]	SWISS	214	COG2217	55743071,NP_000044
540	239938919	Disease	p.Met665Ile	VAR_000715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000715	- Wilson disease (WD) [MIM:277900]	SWISS	21	COG0474	55743071,NP_000044
540	239938919	Disease	p.Met665Ile	VAR_000715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000715	- Wilson disease (WD) [MIM:277900]	SWISS	222	COG2217	55743071,NP_000044
540	239938919	Disease	p.Pro690Leu	VAR_023014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023014	- Wilson disease (WD) [MIM:277900]	SWISS	54	COG0474	55743071,NP_000044
540	239938919	Disease	p.Pro690Leu	VAR_023014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023014	- Wilson disease (WD) [MIM:277900]	SWISS	255	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly691Arg	VAR_000716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000716	- Wilson disease (WD) [MIM:277900]	SWISS	55	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly691Arg	VAR_000716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000716	- Wilson disease (WD) [MIM:277900]	SWISS	256	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ser693Cys	VAR_023015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023015	- Wilson disease (WD) [MIM:277900]	SWISS	89	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ser693Cys	VAR_023015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023015	- Wilson disease (WD) [MIM:277900]	SWISS	258	COG2217	55743071,NP_000044
540	239938919	Disease	p.Cys703Tyr	VAR_044460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044460	- Wilson disease (WD) [MIM:277900]	SWISS	99	COG0474	55743071,NP_000044
540	239938919	Disease	p.Cys703Tyr	VAR_044460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044460	- Wilson disease (WD) [MIM:277900]	SWISS	268	COG2217	55743071,NP_000044
540	239938919	Disease	p.Leu708Pro	VAR_000717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000717	- Wilson disease (WD) [MIM:277900]	SWISS	104	COG0474	55743071,NP_000044
540	239938919	Disease	p.Leu708Pro	VAR_000717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000717	- Wilson disease (WD) [MIM:277900]	SWISS	273	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly710Ala	VAR_010010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010010	- Wilson disease (WD) [MIM:277900]	SWISS	106	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly710Ala	VAR_010010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010010	- Wilson disease (WD) [MIM:277900]	SWISS	275	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly710Arg	VAR_000718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000718	- Wilson disease (WD) [MIM:277900]	SWISS	106	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly710Arg	VAR_000718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000718	- Wilson disease (WD) [MIM:277900]	SWISS	275	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly710Ser	VAR_000719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000719	- Wilson disease (WD) [MIM:277900]	SWISS	106	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly710Ser	VAR_000719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000719	- Wilson disease (WD) [MIM:277900]	SWISS	275	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly710Val	VAR_044461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044461	- Wilson disease (WD) [MIM:277900]	SWISS	106	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly710Val	VAR_044461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044461	- Wilson disease (WD) [MIM:277900]	SWISS	275	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly711Glu	VAR_000720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000720	- Wilson disease (WD) [MIM:277900]	SWISS	107	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly711Glu	VAR_000720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000720	- Wilson disease (WD) [MIM:277900]	SWISS	282	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly711Arg	VAR_009006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009006	- Wilson disease (WD) [MIM:277900]	SWISS	107	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly711Arg	VAR_009006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009006	- Wilson disease (WD) [MIM:277900]	SWISS	282	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly711Trp	VAR_009007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009007	- Wilson disease (WD) [MIM:277900]	SWISS	107	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly711Trp	VAR_009007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009007	- Wilson disease (WD) [MIM:277900]	SWISS	282	COG2217	55743071,NP_000044
540	239938919	Disease	p.Tyr713Cys	VAR_000721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000721	- Wilson disease (WD) [MIM:277900]	SWISS	112	COG0474	55743071,NP_000044
540	239938919	Disease	p.Tyr713Cys	VAR_000721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000721	- Wilson disease (WD) [MIM:277900]	SWISS	284	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ser721Pro	VAR_023016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023016	- Wilson disease (WD) [MIM:277900]	SWISS	125	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ser721Pro	VAR_023016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023016	- Wilson disease (WD) [MIM:277900]	SWISS	311	COG2217	55743071,NP_000044
540	239938919	Disease	p.Thr737Arg	VAR_023017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023017	- Wilson disease (WD) [MIM:277900]	SWISS	144	COG0474	55743071,NP_000044
540	239938919	Disease	p.Thr737Arg	VAR_023017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023017	- Wilson disease (WD) [MIM:277900]	SWISS	327	COG2217	55743071,NP_000044
540	239938919	Disease	p.Thr737Arg	VAR_023017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023017	- Wilson disease (WD) [MIM:277900]	SWISS	2	COG2216	55743071,NP_000044
540	239938919	Disease	p.Tyr741Cys	VAR_010011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010011	- Wilson disease (WD) [MIM:277900]	SWISS	157	COG0474	55743071,NP_000044
540	239938919	Disease	p.Tyr741Cys	VAR_010011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010011	- Wilson disease (WD) [MIM:277900]	SWISS	331	COG2217	55743071,NP_000044
540	239938919	Disease	p.Tyr741Cys	VAR_010011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010011	- Wilson disease (WD) [MIM:277900]	SWISS	6	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ser744Pro	VAR_009008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009008	- Wilson disease (WD) [MIM:277900]	SWISS	160	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ser744Pro	VAR_009008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009008	- Wilson disease (WD) [MIM:277900]	SWISS	334	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ser744Pro	VAR_009008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009008	- Wilson disease (WD) [MIM:277900]	SWISS	9	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ile747Phe	VAR_000723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000723	- Wilson disease (WD) [MIM:277900]	SWISS	163	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ile747Phe	VAR_000723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000723	- Wilson disease (WD) [MIM:277900]	SWISS	337	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ile747Phe	VAR_000723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000723	- Wilson disease (WD) [MIM:277900]	SWISS	12	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ala756Gly	VAR_044462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044462	- Wilson disease (WD) [MIM:277900]	SWISS	172	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ala756Gly	VAR_044462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044462	- Wilson disease (WD) [MIM:277900]	SWISS	346	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ala756Gly	VAR_044462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044462	- Wilson disease (WD) [MIM:277900]	SWISS	21	COG2216	55743071,NP_000044
540	239938919	Disease	p.Pro760Leu	VAR_023018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023018	- Wilson disease (WD) [MIM:277900]	SWISS	176	COG0474	55743071,NP_000044
540	239938919	Disease	p.Pro760Leu	VAR_023018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023018	- Wilson disease (WD) [MIM:277900]	SWISS	365	COG2217	55743071,NP_000044
540	239938919	Disease	p.Pro760Leu	VAR_023018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023018	- Wilson disease (WD) [MIM:277900]	SWISS	26	COG2216	55743071,NP_000044
540	239938919	Disease	p.Asp765Gly	VAR_023019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023019	- Wilson disease (WD) [MIM:277900]	SWISS	201	COG0474	55743071,NP_000044
540	239938919	Disease	p.Asp765Gly	VAR_023019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023019	- Wilson disease (WD) [MIM:277900]	SWISS	370	COG2217	55743071,NP_000044
540	239938919	Disease	p.Asp765Gly	VAR_023019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023019	- Wilson disease (WD) [MIM:277900]	SWISS	31	COG2216	55743071,NP_000044
540	239938919	Disease	p.Asp765Asn	VAR_000724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000724	rs28942075 Wilson disease (WD) [MIM:277900]	SWISS	201	COG0474	55743071,NP_000044
540	239938919	Disease	p.Asp765Asn	VAR_000724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000724	rs28942075 Wilson disease (WD) [MIM:277900]	SWISS	370	COG2217	55743071,NP_000044
540	239938919	Disease	p.Asp765Asn	VAR_000724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000724	rs28942075 Wilson disease (WD) [MIM:277900]	SWISS	31	COG2216	55743071,NP_000044
540	239938919	Disease	p.Thr766Met	VAR_044463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044463	- Wilson disease (WD) [MIM:277900]	SWISS	202	COG0474	55743071,NP_000044
540	239938919	Disease	p.Thr766Met	VAR_044463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044463	- Wilson disease (WD) [MIM:277900]	SWISS	371	COG2217	55743071,NP_000044
540	239938919	Disease	p.Thr766Met	VAR_044463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044463	- Wilson disease (WD) [MIM:277900]	SWISS	32	COG2216	55743071,NP_000044
540	239938919	Disease	p.Thr766Arg	VAR_044464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044464	- Wilson disease (WD) [MIM:277900]	SWISS	202	COG0474	55743071,NP_000044
540	239938919	Disease	p.Thr766Arg	VAR_044464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044464	- Wilson disease (WD) [MIM:277900]	SWISS	371	COG2217	55743071,NP_000044
540	239938919	Disease	p.Thr766Arg	VAR_044464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044464	- Wilson disease (WD) [MIM:277900]	SWISS	32	COG2216	55743071,NP_000044
540	239938919	Disease	p.Pro768His	VAR_023020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023020	- Wilson disease (WD) [MIM:277900]	SWISS	204	COG0474	55743071,NP_000044
540	239938919	Disease	p.Pro768His	VAR_023020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023020	- Wilson disease (WD) [MIM:277900]	SWISS	373	COG2217	55743071,NP_000044
540	239938919	Disease	p.Pro768His	VAR_023020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023020	- Wilson disease (WD) [MIM:277900]	SWISS	34	COG2216	55743071,NP_000044
540	239938919	Disease	p.Met769Ile	VAR_023021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023021	- Wilson disease (WD) [MIM:277900]	SWISS	205	COG0474	55743071,NP_000044
540	239938919	Disease	p.Met769Ile	VAR_023021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023021	- Wilson disease (WD) [MIM:277900]	SWISS	374	COG2217	55743071,NP_000044
540	239938919	Disease	p.Met769Ile	VAR_023021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023021	- Wilson disease (WD) [MIM:277900]	SWISS	35	COG2216	55743071,NP_000044
540	239938919	Disease	p.Met769Arg	VAR_009009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009009	- Wilson disease (WD) [MIM:277900]	SWISS	205	COG0474	55743071,NP_000044
540	239938919	Disease	p.Met769Arg	VAR_009009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009009	- Wilson disease (WD) [MIM:277900]	SWISS	374	COG2217	55743071,NP_000044
540	239938919	Disease	p.Met769Arg	VAR_009009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009009	- Wilson disease (WD) [MIM:277900]	SWISS	35	COG2216	55743071,NP_000044
540	239938919	Disease	p.Met769Val	VAR_000725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000725	- Wilson disease (WD) [MIM:277900]	SWISS	205	COG0474	55743071,NP_000044
540	239938919	Disease	p.Met769Val	VAR_000725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000725	- Wilson disease (WD) [MIM:277900]	SWISS	374	COG2217	55743071,NP_000044
540	239938919	Disease	p.Met769Val	VAR_000725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000725	- Wilson disease (WD) [MIM:277900]	SWISS	35	COG2216	55743071,NP_000044
540	239938919	Disease	p.Leu776Pro	VAR_044465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044465	- Wilson disease (WD) [MIM:277900]	SWISS	212	COG0474	55743071,NP_000044
540	239938919	Disease	p.Leu776Pro	VAR_044465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044465	- Wilson disease (WD) [MIM:277900]	SWISS	8	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Leu776Pro	VAR_044465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044465	- Wilson disease (WD) [MIM:277900]	SWISS	381	COG2217	55743071,NP_000044
540	239938919	Disease	p.Leu776Pro	VAR_044465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044465	- Wilson disease (WD) [MIM:277900]	SWISS	46	COG2216	55743071,NP_000044
540	239938919	Disease	p.Arg778Gly	VAR_000727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000727	- Wilson disease (WD) [MIM:277900]	SWISS	215	COG0474	55743071,NP_000044
540	239938919	Disease	p.Arg778Gly	VAR_000727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000727	- Wilson disease (WD) [MIM:277900]	SWISS	10	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Arg778Gly	VAR_000727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000727	- Wilson disease (WD) [MIM:277900]	SWISS	383	COG2217	55743071,NP_000044
540	239938919	Disease	p.Arg778Gly	VAR_000727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000727	- Wilson disease (WD) [MIM:277900]	SWISS	49	COG2216	55743071,NP_000044
540	239938919	Disease	p.Arg778Leu	VAR_000728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000728	rs28942074 Wilson disease (WD) [MIM:277900]	SWISS	215	COG0474	55743071,NP_000044
540	239938919	Disease	p.Arg778Leu	VAR_000728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000728	rs28942074 Wilson disease (WD) [MIM:277900]	SWISS	10	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Arg778Leu	VAR_000728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000728	rs28942074 Wilson disease (WD) [MIM:277900]	SWISS	383	COG2217	55743071,NP_000044
540	239938919	Disease	p.Arg778Leu	VAR_000728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000728	rs28942074 Wilson disease (WD) [MIM:277900]	SWISS	49	COG2216	55743071,NP_000044
540	239938919	Disease	p.Arg778Gln	VAR_000729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000729	- Wilson disease (WD) [MIM:277900]	SWISS	215	COG0474	55743071,NP_000044
540	239938919	Disease	p.Arg778Gln	VAR_000729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000729	- Wilson disease (WD) [MIM:277900]	SWISS	10	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Arg778Gln	VAR_000729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000729	- Wilson disease (WD) [MIM:277900]	SWISS	383	COG2217	55743071,NP_000044
540	239938919	Disease	p.Arg778Gln	VAR_000729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000729	- Wilson disease (WD) [MIM:277900]	SWISS	49	COG2216	55743071,NP_000044
540	239938919	Disease	p.Arg778Trp	VAR_000730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000730	- Wilson disease (WD) [MIM:277900]	SWISS	215	COG0474	55743071,NP_000044
540	239938919	Disease	p.Arg778Trp	VAR_000730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000730	- Wilson disease (WD) [MIM:277900]	SWISS	10	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Arg778Trp	VAR_000730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000730	- Wilson disease (WD) [MIM:277900]	SWISS	383	COG2217	55743071,NP_000044
540	239938919	Disease	p.Arg778Trp	VAR_000730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000730	- Wilson disease (WD) [MIM:277900]	SWISS	49	COG2216	55743071,NP_000044
540	239938919	Disease	p.Leu795Phe	VAR_000731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000731	- Wilson disease (WD) [MIM:277900]	SWISS	231	COG0474	55743071,NP_000044
540	239938919	Disease	p.Leu795Phe	VAR_000731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000731	- Wilson disease (WD) [MIM:277900]	SWISS	27	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Leu795Phe	VAR_000731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000731	- Wilson disease (WD) [MIM:277900]	SWISS	400	COG2217	55743071,NP_000044
540	239938919	Disease	p.Leu795Phe	VAR_000731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000731	- Wilson disease (WD) [MIM:277900]	SWISS	92	COG2216	55743071,NP_000044
540	239938919	Disease	p.Leu795Arg	VAR_009010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009010	- Wilson disease (WD) [MIM:277900]	SWISS	231	COG0474	55743071,NP_000044
540	239938919	Disease	p.Leu795Arg	VAR_009010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009010	- Wilson disease (WD) [MIM:277900]	SWISS	27	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Leu795Arg	VAR_009010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009010	- Wilson disease (WD) [MIM:277900]	SWISS	400	COG2217	55743071,NP_000044
540	239938919	Disease	p.Leu795Arg	VAR_009010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009010	- Wilson disease (WD) [MIM:277900]	SWISS	92	COG2216	55743071,NP_000044
540	239938919	Disease	p.Pro840Leu	VAR_000733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000733	- Wilson disease (WD) [MIM:277900]	SWISS	293	COG0474	55743071,NP_000044
540	239938919	Disease	p.Pro840Leu	VAR_000733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000733	- Wilson disease (WD) [MIM:277900]	SWISS	126	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Pro840Leu	VAR_000733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000733	- Wilson disease (WD) [MIM:277900]	SWISS	463	COG2217	55743071,NP_000044
540	239938919	Disease	p.Pro840Leu	VAR_000733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000733	- Wilson disease (WD) [MIM:277900]	SWISS	151	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ile857Thr	VAR_000734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000734	- Wilson disease (WD) [MIM:277900]	SWISS	315	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ile857Thr	VAR_000734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000734	- Wilson disease (WD) [MIM:277900]	SWISS	199	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Ile857Thr	VAR_000734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000734	- Wilson disease (WD) [MIM:277900]	SWISS	480	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ile857Thr	VAR_000734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000734	- Wilson disease (WD) [MIM:277900]	SWISS	168	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ala861Thr	VAR_044466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044466	- Wilson disease (WD) [MIM:277900]	SWISS	319	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ala861Thr	VAR_044466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044466	- Wilson disease (WD) [MIM:277900]	SWISS	203	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Ala861Thr	VAR_044466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044466	- Wilson disease (WD) [MIM:277900]	SWISS	484	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ala861Thr	VAR_044466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044466	- Wilson disease (WD) [MIM:277900]	SWISS	172	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly869Arg	VAR_000736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000736	- Wilson disease (WD) [MIM:277900]	SWISS	410	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly869Arg	VAR_000736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000736	- Wilson disease (WD) [MIM:277900]	SWISS	271	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Gly869Arg	VAR_000736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000736	- Wilson disease (WD) [MIM:277900]	SWISS	492	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly869Arg	VAR_000736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000736	- Wilson disease (WD) [MIM:277900]	SWISS	180	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly869Val	VAR_009011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009011	- Wilson disease (WD) [MIM:277900]	SWISS	410	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly869Val	VAR_009011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009011	- Wilson disease (WD) [MIM:277900]	SWISS	271	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Gly869Val	VAR_009011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009011	- Wilson disease (WD) [MIM:277900]	SWISS	492	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly869Val	VAR_009011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009011	- Wilson disease (WD) [MIM:277900]	SWISS	180	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ala874Val	VAR_000737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000737	- Wilson disease (WD) [MIM:277900]	SWISS	415	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ala874Val	VAR_000737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000737	- Wilson disease (WD) [MIM:277900]	SWISS	289	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Ala874Val	VAR_000737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000737	- Wilson disease (WD) [MIM:277900]	SWISS	510	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ala874Val	VAR_000737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000737	- Wilson disease (WD) [MIM:277900]	SWISS	189	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly875Val	VAR_044467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044467	- Wilson disease (WD) [MIM:277900]	SWISS	416	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly875Val	VAR_044467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044467	- Wilson disease (WD) [MIM:277900]	SWISS	290	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Gly875Val	VAR_044467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044467	- Wilson disease (WD) [MIM:277900]	SWISS	511	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly875Val	VAR_044467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044467	- Wilson disease (WD) [MIM:277900]	SWISS	190	COG2216	55743071,NP_000044
540	239938919	Disease	p.Val890Met	VAR_023023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023023	- Wilson disease (WD) [MIM:277900]	SWISS	451	COG0474	55743071,NP_000044
540	239938919	Disease	p.Val890Met	VAR_023023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023023	- Wilson disease (WD) [MIM:277900]	SWISS	316	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Val890Met	VAR_023023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023023	- Wilson disease (WD) [MIM:277900]	SWISS	526	COG2217	55743071,NP_000044
540	239938919	Disease	p.Val890Met	VAR_023023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023023	- Wilson disease (WD) [MIM:277900]	SWISS	205	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly891Val	VAR_010012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010012	- Wilson disease (WD) [MIM:277900]	SWISS	452	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly891Val	VAR_010012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010012	- Wilson disease (WD) [MIM:277900]	SWISS	317	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Gly891Val	VAR_010012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010012	- Wilson disease (WD) [MIM:277900]	SWISS	527	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly891Val	VAR_010012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010012	- Wilson disease (WD) [MIM:277900]	SWISS	206	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gln898Arg	VAR_023024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023024	- Wilson disease (WD) [MIM:277900]	SWISS	459	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gln898Arg	VAR_023024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023024	- Wilson disease (WD) [MIM:277900]	SWISS	324	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Gln898Arg	VAR_023024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023024	- Wilson disease (WD) [MIM:277900]	SWISS	534	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gln898Arg	VAR_023024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023024	- Wilson disease (WD) [MIM:277900]	SWISS	213	COG2216	55743071,NP_000044
540	239938919	Disease	p.Asp918Glu	VAR_023025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023025	- Wilson disease (WD) [MIM:277900]	SWISS	514	COG0474	55743071,NP_000044
540	239938919	Disease	p.Asp918Glu	VAR_023025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023025	- Wilson disease (WD) [MIM:277900]	SWISS	385	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Asp918Glu	VAR_023025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023025	- Wilson disease (WD) [MIM:277900]	SWISS	554	COG2217	55743071,NP_000044
540	239938919	Disease	p.Asp918Glu	VAR_023025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023025	- Wilson disease (WD) [MIM:277900]	SWISS	229_G	COG2216	55743071,NP_000044
540	239938919	Disease	p.Asp918Asn	VAR_000738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000738	- Wilson disease (WD) [MIM:277900]	SWISS	514	COG0474	55743071,NP_000044
540	239938919	Disease	p.Asp918Asn	VAR_000738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000738	- Wilson disease (WD) [MIM:277900]	SWISS	385	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Asp918Asn	VAR_000738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000738	- Wilson disease (WD) [MIM:277900]	SWISS	554	COG2217	55743071,NP_000044
540	239938919	Disease	p.Asp918Asn	VAR_000738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000738	- Wilson disease (WD) [MIM:277900]	SWISS	229_G	COG2216	55743071,NP_000044
540	239938919	Disease	p.Arg919Gly	VAR_000739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000739	- Wilson disease (WD) [MIM:277900]	SWISS	515	COG0474	55743071,NP_000044
540	239938919	Disease	p.Arg919Gly	VAR_000739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000739	- Wilson disease (WD) [MIM:277900]	SWISS	386	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Arg919Gly	VAR_000739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000739	- Wilson disease (WD) [MIM:277900]	SWISS	555	COG2217	55743071,NP_000044
540	239938919	Disease	p.Arg919Gly	VAR_000739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000739	- Wilson disease (WD) [MIM:277900]	SWISS	229_G	COG2216	55743071,NP_000044
540	239938919	Disease	p.Arg919Trp	VAR_000740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000740	- Wilson disease (WD) [MIM:277900]	SWISS	515	COG0474	55743071,NP_000044
540	239938919	Disease	p.Arg919Trp	VAR_000740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000740	- Wilson disease (WD) [MIM:277900]	SWISS	386	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Arg919Trp	VAR_000740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000740	- Wilson disease (WD) [MIM:277900]	SWISS	555	COG2217	55743071,NP_000044
540	239938919	Disease	p.Arg919Trp	VAR_000740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000740	- Wilson disease (WD) [MIM:277900]	SWISS	229_G	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ser921Asn	VAR_000741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000741	- Wilson disease (WD) [MIM:277900]	SWISS	517	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ser921Asn	VAR_000741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000741	- Wilson disease (WD) [MIM:277900]	SWISS	388	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Ser921Asn	VAR_000741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000741	- Wilson disease (WD) [MIM:277900]	SWISS	558	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ser921Asn	VAR_000741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000741	- Wilson disease (WD) [MIM:277900]	SWISS	229_G	COG2216	55743071,NP_000044
540	239938919	Disease	p.Thr933Pro	VAR_000742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000742	- Wilson disease (WD) [MIM:277900]	SWISS	529	COG0474	55743071,NP_000044
540	239938919	Disease	p.Thr933Pro	VAR_000742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000742	- Wilson disease (WD) [MIM:277900]	SWISS	401	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Thr933Pro	VAR_000742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000742	- Wilson disease (WD) [MIM:277900]	SWISS	570	COG2217	55743071,NP_000044
540	239938919	Disease	p.Thr933Pro	VAR_000742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000742	- Wilson disease (WD) [MIM:277900]	SWISS	238	COG2216	55743071,NP_000044
540	239938919	Disease	p.Thr935Met	VAR_000743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000743	- Wilson disease (WD) [MIM:277900]	SWISS	531	COG0474	55743071,NP_000044
540	239938919	Disease	p.Thr935Met	VAR_000743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000743	- Wilson disease (WD) [MIM:277900]	SWISS	420	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Thr935Met	VAR_000743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000743	- Wilson disease (WD) [MIM:277900]	SWISS	572	COG2217	55743071,NP_000044
540	239938919	Disease	p.Thr935Met	VAR_000743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000743	- Wilson disease (WD) [MIM:277900]	SWISS	240	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly943Cys	VAR_044468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044468	- Wilson disease (WD) [MIM:277900]	SWISS	537_G	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly943Cys	VAR_044468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044468	- Wilson disease (WD) [MIM:277900]	SWISS	428	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Gly943Cys	VAR_044468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044468	- Wilson disease (WD) [MIM:277900]	SWISS	581	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly943Cys	VAR_044468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044468	- Wilson disease (WD) [MIM:277900]	SWISS	248	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly943Asp	VAR_000744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000744	- Wilson disease (WD) [MIM:277900]	SWISS	537_G	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly943Asp	VAR_000744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000744	- Wilson disease (WD) [MIM:277900]	SWISS	428	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Gly943Asp	VAR_000744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000744	- Wilson disease (WD) [MIM:277900]	SWISS	581	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly943Asp	VAR_000744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000744	- Wilson disease (WD) [MIM:277900]	SWISS	248	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly943Ser	VAR_000745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000745	rs28942076 Wilson disease (WD) [MIM:277900]	SWISS	537_G	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly943Ser	VAR_000745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000745	rs28942076 Wilson disease (WD) [MIM:277900]	SWISS	428	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Gly943Ser	VAR_000745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000745	rs28942076 Wilson disease (WD) [MIM:277900]	SWISS	581	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly943Ser	VAR_000745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000745	rs28942076 Wilson disease (WD) [MIM:277900]	SWISS	248	COG2216	55743071,NP_000044
540	239938919	Disease	p.Val949Gly	VAR_023026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023026	- Wilson disease (WD) [MIM:277900]	SWISS	537_G	COG0474	55743071,NP_000044
540	239938919	Disease	p.Val949Gly	VAR_023026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023026	- Wilson disease (WD) [MIM:277900]	SWISS	439	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Val949Gly	VAR_023026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023026	- Wilson disease (WD) [MIM:277900]	SWISS	594	COG2217	55743071,NP_000044
540	239938919	Disease	p.Val949Gly	VAR_023026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023026	- Wilson disease (WD) [MIM:277900]	SWISS	252_G	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ile967Phe	VAR_010013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010013	rs60003608 Wilson disease (WD) [MIM:277900]	SWISS	549	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ile967Phe	VAR_010013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010013	rs60003608 Wilson disease (WD) [MIM:277900]	SWISS	515	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Ile967Phe	VAR_010013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010013	rs60003608 Wilson disease (WD) [MIM:277900]	SWISS	612	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ile967Phe	VAR_010013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010013	rs60003608 Wilson disease (WD) [MIM:277900]	SWISS	270	COG2216	55743071,NP_000044
540	239938919	Disease	p.Arg969Gln	VAR_000747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000747	- Wilson disease (WD) [MIM:277900]	SWISS	551	COG0474	55743071,NP_000044
540	239938919	Disease	p.Arg969Gln	VAR_000747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000747	- Wilson disease (WD) [MIM:277900]	SWISS	524	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Arg969Gln	VAR_000747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000747	- Wilson disease (WD) [MIM:277900]	SWISS	615	COG2217	55743071,NP_000044
540	239938919	Disease	p.Arg969Gln	VAR_000747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000747	- Wilson disease (WD) [MIM:277900]	SWISS	272	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ala971Val	VAR_058927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058927	- Wilson disease (WD) [MIM:277900]	SWISS	565	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ala971Val	VAR_058927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058927	- Wilson disease (WD) [MIM:277900]	SWISS	526	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Ala971Val	VAR_058927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058927	- Wilson disease (WD) [MIM:277900]	SWISS	617	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ala971Val	VAR_058927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058927	- Wilson disease (WD) [MIM:277900]	SWISS	274	COG2216	55743071,NP_000044
540	239938919	Disease	p.Thr974Met	VAR_058928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058928	- Wilson disease (WD) [MIM:277900]	SWISS	568	COG0474	55743071,NP_000044
540	239938919	Disease	p.Thr974Met	VAR_058928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058928	- Wilson disease (WD) [MIM:277900]	SWISS	529	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Thr974Met	VAR_058928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058928	- Wilson disease (WD) [MIM:277900]	SWISS	620	COG2217	55743071,NP_000044
540	239938919	Disease	p.Thr974Met	VAR_058928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058928	- Wilson disease (WD) [MIM:277900]	SWISS	277	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ser975Tyr	VAR_023027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023027	- Wilson disease (WD) [MIM:277900]	SWISS	569	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ser975Tyr	VAR_023027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023027	- Wilson disease (WD) [MIM:277900]	SWISS	530	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Ser975Tyr	VAR_023027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023027	- Wilson disease (WD) [MIM:277900]	SWISS	621	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ser975Tyr	VAR_023027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023027	- Wilson disease (WD) [MIM:277900]	SWISS	278	COG2216	55743071,NP_000044
540	239938919	Disease	p.Thr977Met	VAR_000748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000748	- Wilson disease (WD) [MIM:277900]	SWISS	571	COG0474	55743071,NP_000044
540	239938919	Disease	p.Thr977Met	VAR_000748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000748	- Wilson disease (WD) [MIM:277900]	SWISS	533	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Thr977Met	VAR_000748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000748	- Wilson disease (WD) [MIM:277900]	SWISS	623	COG2217	55743071,NP_000044
540	239938919	Disease	p.Thr977Met	VAR_000748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000748	- Wilson disease (WD) [MIM:277900]	SWISS	280	COG2216	55743071,NP_000044
540	239938919	Disease	p.Cys985Tyr	VAR_009012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009012	- Wilson disease (WD) [MIM:277900]	SWISS	579	COG0474	55743071,NP_000044
540	239938919	Disease	p.Cys985Tyr	VAR_009012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009012	- Wilson disease (WD) [MIM:277900]	SWISS	541	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Cys985Tyr	VAR_009012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009012	- Wilson disease (WD) [MIM:277900]	SWISS	637	COG2217	55743071,NP_000044
540	239938919	Disease	p.Cys985Tyr	VAR_009012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009012	- Wilson disease (WD) [MIM:277900]	SWISS	287	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly988Arg	VAR_044469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044469	- Wilson disease (WD) [MIM:277900]	SWISS	582	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly988Arg	VAR_044469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044469	- Wilson disease (WD) [MIM:277900]	SWISS	544	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Gly988Arg	VAR_044469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044469	- Wilson disease (WD) [MIM:277900]	SWISS	640	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly988Arg	VAR_044469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044469	- Wilson disease (WD) [MIM:277900]	SWISS	290	COG2216	55743071,NP_000044
540	239938919	Disease	p.Thr991Met	VAR_044470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044470	rs41292782 Wilson disease (WD) [MIM:277900]	SWISS	585	COG0474	55743071,NP_000044
540	239938919	Disease	p.Thr991Met	VAR_044470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044470	rs41292782 Wilson disease (WD) [MIM:277900]	SWISS	547	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Thr991Met	VAR_044470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044470	rs41292782 Wilson disease (WD) [MIM:277900]	SWISS	643	COG2217	55743071,NP_000044
540	239938919	Disease	p.Thr991Met	VAR_044470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044470	rs41292782 Wilson disease (WD) [MIM:277900]	SWISS	293	COG2216	55743071,NP_000044
540	239938919	Disease	p.Pro992His	VAR_044471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044471	- Wilson disease (WD) [MIM:277900]	SWISS	586	COG0474	55743071,NP_000044
540	239938919	Disease	p.Pro992His	VAR_044471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044471	- Wilson disease (WD) [MIM:277900]	SWISS	548	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Pro992His	VAR_044471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044471	- Wilson disease (WD) [MIM:277900]	SWISS	644	COG2217	55743071,NP_000044
540	239938919	Disease	p.Pro992His	VAR_044471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044471	- Wilson disease (WD) [MIM:277900]	SWISS	294	COG2216	55743071,NP_000044
540	239938919	Disease	p.Pro992Leu	VAR_000749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000749	- Wilson disease (WD) [MIM:277900]	SWISS	586	COG0474	55743071,NP_000044
540	239938919	Disease	p.Pro992Leu	VAR_000749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000749	- Wilson disease (WD) [MIM:277900]	SWISS	548	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Pro992Leu	VAR_000749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000749	- Wilson disease (WD) [MIM:277900]	SWISS	644	COG2217	55743071,NP_000044
540	239938919	Disease	p.Pro992Leu	VAR_000749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000749	- Wilson disease (WD) [MIM:277900]	SWISS	294	COG2216	55743071,NP_000044
540	239938919	Disease	p.Met996Thr	VAR_044472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044472	- Wilson disease (WD) [MIM:277900]	SWISS	590	COG0474	55743071,NP_000044
540	239938919	Disease	p.Met996Thr	VAR_044472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044472	- Wilson disease (WD) [MIM:277900]	SWISS	552	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Met996Thr	VAR_044472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044472	- Wilson disease (WD) [MIM:277900]	SWISS	648	COG2217	55743071,NP_000044
540	239938919	Disease	p.Met996Thr	VAR_044472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044472	- Wilson disease (WD) [MIM:277900]	SWISS	298	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1000Arg	VAR_044473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044473	- Wilson disease (WD) [MIM:277900]	SWISS	594	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1000Arg	VAR_044473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044473	- Wilson disease (WD) [MIM:277900]	SWISS	556	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Gly1000Arg	VAR_044473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044473	- Wilson disease (WD) [MIM:277900]	SWISS	652	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1000Arg	VAR_044473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044473	- Wilson disease (WD) [MIM:277900]	SWISS	302	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ala1003Thr	VAR_000751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000751	- Wilson disease (WD) [MIM:277900]	SWISS	597	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ala1003Thr	VAR_000751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000751	- Wilson disease (WD) [MIM:277900]	SWISS	559	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Ala1003Thr	VAR_000751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000751	- Wilson disease (WD) [MIM:277900]	SWISS	655	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ala1003Thr	VAR_000751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000751	- Wilson disease (WD) [MIM:277900]	SWISS	305	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ala1003Val	VAR_009013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009013	- Wilson disease (WD) [MIM:277900]	SWISS	597	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ala1003Val	VAR_009013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009013	- Wilson disease (WD) [MIM:277900]	SWISS	559	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Ala1003Val	VAR_009013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009013	- Wilson disease (WD) [MIM:277900]	SWISS	655	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ala1003Val	VAR_009013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009013	- Wilson disease (WD) [MIM:277900]	SWISS	305	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gln1004Pro	VAR_058929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058929	- Wilson disease (WD) [MIM:277900]	SWISS	598	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gln1004Pro	VAR_058929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058929	- Wilson disease (WD) [MIM:277900]	SWISS	560	pfam00122	55743071,NP_000044
540	239938919	Disease	p.Gln1004Pro	VAR_058929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058929	- Wilson disease (WD) [MIM:277900]	SWISS	656	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gln1004Pro	VAR_058929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058929	- Wilson disease (WD) [MIM:277900]	SWISS	311	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ala1018Val	VAR_000752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000752	- Wilson disease (WD) [MIM:277900]	SWISS	622	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ala1018Val	VAR_000752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000752	- Wilson disease (WD) [MIM:277900]	SWISS	670	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ala1018Val	VAR_000752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000752	- Wilson disease (WD) [MIM:277900]	SWISS	325	COG2216	55743071,NP_000044
540	239938919	Disease	p.Thr1029Ile	VAR_044474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044474	- Wilson disease (WD) [MIM:277900]	SWISS	633	COG0474	55743071,NP_000044
540	239938919	Disease	p.Thr1029Ile	VAR_044474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044474	- Wilson disease (WD) [MIM:277900]	SWISS	681	COG2217	55743071,NP_000044
540	239938919	Disease	p.Thr1029Ile	VAR_044474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044474	- Wilson disease (WD) [MIM:277900]	SWISS	336	COG2216	55743071,NP_000044
540	239938919	Disease	p.Thr1029Ile	VAR_044474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044474	- Wilson disease (WD) [MIM:277900]	SWISS	9	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Thr1031Ile	VAR_010014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010014	- Wilson disease (WD) [MIM:277900]	SWISS	635	COG0474	55743071,NP_000044
540	239938919	Disease	p.Thr1031Ile	VAR_010014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010014	- Wilson disease (WD) [MIM:277900]	SWISS	683	COG2217	55743071,NP_000044
540	239938919	Disease	p.Thr1031Ile	VAR_010014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010014	- Wilson disease (WD) [MIM:277900]	SWISS	338	COG2216	55743071,NP_000044
540	239938919	Disease	p.Thr1031Ile	VAR_010014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010014	- Wilson disease (WD) [MIM:277900]	SWISS	11	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Thr1033Ala	VAR_009014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009014	- Wilson disease (WD) [MIM:277900]	SWISS	637	COG0474	55743071,NP_000044
540	239938919	Disease	p.Thr1033Ala	VAR_009014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009014	- Wilson disease (WD) [MIM:277900]	SWISS	685	COG2217	55743071,NP_000044
540	239938919	Disease	p.Thr1033Ala	VAR_009014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009014	- Wilson disease (WD) [MIM:277900]	SWISS	340	COG2216	55743071,NP_000044
540	239938919	Disease	p.Thr1033Ala	VAR_009014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009014	- Wilson disease (WD) [MIM:277900]	SWISS	13	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Thr1033Ser	VAR_023028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023028	- Wilson disease (WD) [MIM:277900]	SWISS	637	COG0474	55743071,NP_000044
540	239938919	Disease	p.Thr1033Ser	VAR_023028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023028	- Wilson disease (WD) [MIM:277900]	SWISS	685	COG2217	55743071,NP_000044
540	239938919	Disease	p.Thr1033Ser	VAR_023028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023028	- Wilson disease (WD) [MIM:277900]	SWISS	340	COG2216	55743071,NP_000044
540	239938919	Disease	p.Thr1033Ser	VAR_023028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023028	- Wilson disease (WD) [MIM:277900]	SWISS	13	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Gly1035Val	VAR_000753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000753	- Wilson disease (WD) [MIM:277900]	SWISS	639	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1035Val	VAR_000753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000753	- Wilson disease (WD) [MIM:277900]	SWISS	687	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1035Val	VAR_000753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000753	- Wilson disease (WD) [MIM:277900]	SWISS	342	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1035Val	VAR_000753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000753	- Wilson disease (WD) [MIM:277900]	SWISS	15	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Arg1038Lys	VAR_010015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010015	rs59959366 Wilson disease (WD) [MIM:277900]	SWISS	642	COG0474	55743071,NP_000044
540	239938919	Disease	p.Arg1038Lys	VAR_010015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010015	rs59959366 Wilson disease (WD) [MIM:277900]	SWISS	690	COG2217	55743071,NP_000044
540	239938919	Disease	p.Arg1038Lys	VAR_010015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010015	rs59959366 Wilson disease (WD) [MIM:277900]	SWISS	345	COG2216	55743071,NP_000044
540	239938919	Disease	p.Arg1038Lys	VAR_010015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010015	rs59959366 Wilson disease (WD) [MIM:277900]	SWISS	53	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Arg1041Pro	VAR_009015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009015	- Wilson disease (WD) [MIM:277900]	SWISS	645	COG0474	55743071,NP_000044
540	239938919	Disease	p.Arg1041Pro	VAR_009015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009015	- Wilson disease (WD) [MIM:277900]	SWISS	693	COG2217	55743071,NP_000044
540	239938919	Disease	p.Arg1041Pro	VAR_009015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009015	- Wilson disease (WD) [MIM:277900]	SWISS	348	COG2216	55743071,NP_000044
540	239938919	Disease	p.Arg1041Pro	VAR_009015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009015	- Wilson disease (WD) [MIM:277900]	SWISS	56	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Arg1041Trp	VAR_000754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000754	- Wilson disease (WD) [MIM:277900]	SWISS	645	COG0474	55743071,NP_000044
540	239938919	Disease	p.Arg1041Trp	VAR_000754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000754	- Wilson disease (WD) [MIM:277900]	SWISS	693	COG2217	55743071,NP_000044
540	239938919	Disease	p.Arg1041Trp	VAR_000754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000754	- Wilson disease (WD) [MIM:277900]	SWISS	348	COG2216	55743071,NP_000044
540	239938919	Disease	p.Arg1041Trp	VAR_000754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000754	- Wilson disease (WD) [MIM:277900]	SWISS	56	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Leu1043Pro	VAR_000755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000755	- Wilson disease (WD) [MIM:277900]	SWISS	647	COG0474	55743071,NP_000044
540	239938919	Disease	p.Leu1043Pro	VAR_000755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000755	- Wilson disease (WD) [MIM:277900]	SWISS	695	COG2217	55743071,NP_000044
540	239938919	Disease	p.Leu1043Pro	VAR_000755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000755	- Wilson disease (WD) [MIM:277900]	SWISS	350	COG2216	55743071,NP_000044
540	239938919	Disease	p.Leu1043Pro	VAR_000755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000755	- Wilson disease (WD) [MIM:277900]	SWISS	58	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Pro1052Leu	VAR_009016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009016	- Wilson disease (WD) [MIM:277900]	SWISS	703	COG0474	55743071,NP_000044
540	239938919	Disease	p.Pro1052Leu	VAR_009016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009016	- Wilson disease (WD) [MIM:277900]	SWISS	722	COG2217	55743071,NP_000044
540	239938919	Disease	p.Pro1052Leu	VAR_009016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009016	- Wilson disease (WD) [MIM:277900]	SWISS	355_G	COG2216	55743071,NP_000044
540	239938919	Disease	p.Pro1052Leu	VAR_009016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009016	- Wilson disease (WD) [MIM:277900]	SWISS	67	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Gly1061Glu	VAR_009017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009017	- Wilson disease (WD) [MIM:277900]	SWISS	762	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1061Glu	VAR_009017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009017	- Wilson disease (WD) [MIM:277900]	SWISS	731	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1061Glu	VAR_009017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009017	- Wilson disease (WD) [MIM:277900]	SWISS	362	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1061Glu	VAR_009017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009017	- Wilson disease (WD) [MIM:277900]	SWISS	112	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Ala1063Val	VAR_009018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009018	- Wilson disease (WD) [MIM:277900]	SWISS	764	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ala1063Val	VAR_009018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009018	- Wilson disease (WD) [MIM:277900]	SWISS	733	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ala1063Val	VAR_009018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009018	- Wilson disease (WD) [MIM:277900]	SWISS	364	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ala1063Val	VAR_009018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009018	- Wilson disease (WD) [MIM:277900]	SWISS	114	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Glu1064Ala	VAR_000756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000756	- Wilson disease (WD) [MIM:277900]	SWISS	765	COG0474	55743071,NP_000044
540	239938919	Disease	p.Glu1064Ala	VAR_000756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000756	- Wilson disease (WD) [MIM:277900]	SWISS	734	COG2217	55743071,NP_000044
540	239938919	Disease	p.Glu1064Ala	VAR_000756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000756	- Wilson disease (WD) [MIM:277900]	SWISS	365	COG2216	55743071,NP_000044
540	239938919	Disease	p.Glu1064Ala	VAR_000756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000756	- Wilson disease (WD) [MIM:277900]	SWISS	115	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Glu1064Lys	VAR_000757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000757	- Wilson disease (WD) [MIM:277900]	SWISS	765	COG0474	55743071,NP_000044
540	239938919	Disease	p.Glu1064Lys	VAR_000757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000757	- Wilson disease (WD) [MIM:277900]	SWISS	734	COG2217	55743071,NP_000044
540	239938919	Disease	p.Glu1064Lys	VAR_000757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000757	- Wilson disease (WD) [MIM:277900]	SWISS	365	COG2216	55743071,NP_000044
540	239938919	Disease	p.Glu1064Lys	VAR_000757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000757	- Wilson disease (WD) [MIM:277900]	SWISS	115	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Ala1065Pro	VAR_044475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044475	- Wilson disease (WD) [MIM:277900]	SWISS	766	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ala1065Pro	VAR_044475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044475	- Wilson disease (WD) [MIM:277900]	SWISS	735	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ala1065Pro	VAR_044475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044475	- Wilson disease (WD) [MIM:277900]	SWISS	366	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ala1065Pro	VAR_044475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044475	- Wilson disease (WD) [MIM:277900]	SWISS	116	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Glu1068Gly	VAR_009019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009019	- Wilson disease (WD) [MIM:277900]	SWISS	769	COG0474	55743071,NP_000044
540	239938919	Disease	p.Glu1068Gly	VAR_009019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009019	- Wilson disease (WD) [MIM:277900]	SWISS	738	COG2217	55743071,NP_000044
540	239938919	Disease	p.Glu1068Gly	VAR_009019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009019	- Wilson disease (WD) [MIM:277900]	SWISS	372	COG2216	55743071,NP_000044
540	239938919	Disease	p.Glu1068Gly	VAR_009019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009019	- Wilson disease (WD) [MIM:277900]	SWISS	119	pfam00702	55743071,NP_000044
540	239938919	Disease	p.His1069Gln	VAR_000758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000758	- Wilson disease (WD) [MIM:277900]	SWISS	770	COG0474	55743071,NP_000044
540	239938919	Disease	p.His1069Gln	VAR_000758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000758	- Wilson disease (WD) [MIM:277900]	SWISS	739	COG2217	55743071,NP_000044
540	239938919	Disease	p.His1069Gln	VAR_000758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000758	- Wilson disease (WD) [MIM:277900]	SWISS	373	COG2216	55743071,NP_000044
540	239938919	Disease	p.His1069Gln	VAR_000758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000758	- Wilson disease (WD) [MIM:277900]	SWISS	120	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Leu1083Phe	VAR_000759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000759	- Wilson disease (WD) [MIM:277900]	SWISS	781	COG0474	55743071,NP_000044
540	239938919	Disease	p.Leu1083Phe	VAR_000759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000759	- Wilson disease (WD) [MIM:277900]	SWISS	765	COG2217	55743071,NP_000044
540	239938919	Disease	p.Leu1083Phe	VAR_000759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000759	- Wilson disease (WD) [MIM:277900]	SWISS	387	COG2216	55743071,NP_000044
540	239938919	Disease	p.Leu1083Phe	VAR_000759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000759	- Wilson disease (WD) [MIM:277900]	SWISS	144	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Gly1089Glu	VAR_000760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000760	- Wilson disease (WD) [MIM:277900]	SWISS	798	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1089Glu	VAR_000760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000760	- Wilson disease (WD) [MIM:277900]	SWISS	780	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1089Glu	VAR_000760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000760	- Wilson disease (WD) [MIM:277900]	SWISS	394	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1089Glu	VAR_000760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000760	- Wilson disease (WD) [MIM:277900]	SWISS	150	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Gly1089Val	VAR_000761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000761	- Wilson disease (WD) [MIM:277900]	SWISS	798	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1089Val	VAR_000761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000761	- Wilson disease (WD) [MIM:277900]	SWISS	780	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1089Val	VAR_000761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000761	- Wilson disease (WD) [MIM:277900]	SWISS	394	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1089Val	VAR_000761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000761	- Wilson disease (WD) [MIM:277900]	SWISS	150	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Phe1094Leu	VAR_023029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023029	- Wilson disease (WD) [MIM:277900]	SWISS	806	COG0474	55743071,NP_000044
540	239938919	Disease	p.Phe1094Leu	VAR_023029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023029	- Wilson disease (WD) [MIM:277900]	SWISS	798	COG2217	55743071,NP_000044
540	239938919	Disease	p.Phe1094Leu	VAR_023029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023029	- Wilson disease (WD) [MIM:277900]	SWISS	399	COG2216	55743071,NP_000044
540	239938919	Disease	p.Phe1094Leu	VAR_023029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023029	- Wilson disease (WD) [MIM:277900]	SWISS	155	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Gln1095Pro	VAR_009020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009020	- Wilson disease (WD) [MIM:277900]	SWISS	807	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gln1095Pro	VAR_009020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009020	- Wilson disease (WD) [MIM:277900]	SWISS	799	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gln1095Pro	VAR_009020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009020	- Wilson disease (WD) [MIM:277900]	SWISS	400	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gln1095Pro	VAR_009020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009020	- Wilson disease (WD) [MIM:277900]	SWISS	156	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Pro1098Arg	VAR_023030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023030	- Wilson disease (WD) [MIM:277900]	SWISS	810	COG0474	55743071,NP_000044
540	239938919	Disease	p.Pro1098Arg	VAR_023030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023030	- Wilson disease (WD) [MIM:277900]	SWISS	802	COG2217	55743071,NP_000044
540	239938919	Disease	p.Pro1098Arg	VAR_023030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023030	- Wilson disease (WD) [MIM:277900]	SWISS	403	COG2216	55743071,NP_000044
540	239938919	Disease	p.Pro1098Arg	VAR_023030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023030	- Wilson disease (WD) [MIM:277900]	SWISS	159	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Gly1099Ser	VAR_023031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023031	- Wilson disease (WD) [MIM:277900]	SWISS	811	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1099Ser	VAR_023031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023031	- Wilson disease (WD) [MIM:277900]	SWISS	805	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1099Ser	VAR_023031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023031	- Wilson disease (WD) [MIM:277900]	SWISS	404	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1099Ser	VAR_023031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023031	- Wilson disease (WD) [MIM:277900]	SWISS	160	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Gly1101Arg	VAR_000762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000762	- Wilson disease (WD) [MIM:277900]	SWISS	813	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1101Arg	VAR_000762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000762	- Wilson disease (WD) [MIM:277900]	SWISS	807	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1101Arg	VAR_000762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000762	- Wilson disease (WD) [MIM:277900]	SWISS	406	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1101Arg	VAR_000762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000762	- Wilson disease (WD) [MIM:277900]	SWISS	162	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Ile1102Thr	VAR_000763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000763	- Wilson disease (WD) [MIM:277900]	SWISS	825	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ile1102Thr	VAR_000763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000763	- Wilson disease (WD) [MIM:277900]	SWISS	807_G	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ile1102Thr	VAR_000763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000763	- Wilson disease (WD) [MIM:277900]	SWISS	407	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ile1102Thr	VAR_000763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000763	- Wilson disease (WD) [MIM:277900]	SWISS	163	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Cys1104Phe	VAR_009021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009021	- Wilson disease (WD) [MIM:277900]	SWISS	827	COG0474	55743071,NP_000044
540	239938919	Disease	p.Cys1104Phe	VAR_009021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009021	- Wilson disease (WD) [MIM:277900]	SWISS	807_G	COG2217	55743071,NP_000044
540	239938919	Disease	p.Cys1104Phe	VAR_009021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009021	- Wilson disease (WD) [MIM:277900]	SWISS	409	COG2216	55743071,NP_000044
540	239938919	Disease	p.Cys1104Phe	VAR_009021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009021	- Wilson disease (WD) [MIM:277900]	SWISS	165	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Cys1104Tyr	VAR_044476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044476	- Wilson disease (WD) [MIM:277900]	SWISS	827	COG0474	55743071,NP_000044
540	239938919	Disease	p.Cys1104Tyr	VAR_044476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044476	- Wilson disease (WD) [MIM:277900]	SWISS	807_G	COG2217	55743071,NP_000044
540	239938919	Disease	p.Cys1104Tyr	VAR_044476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044476	- Wilson disease (WD) [MIM:277900]	SWISS	409	COG2216	55743071,NP_000044
540	239938919	Disease	p.Cys1104Tyr	VAR_044476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044476	- Wilson disease (WD) [MIM:277900]	SWISS	165	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Val1106Asp	VAR_010017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010017	- Wilson disease (WD) [MIM:277900]	SWISS	829	COG0474	55743071,NP_000044
540	239938919	Disease	p.Val1106Asp	VAR_010017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010017	- Wilson disease (WD) [MIM:277900]	SWISS	807_G	COG2217	55743071,NP_000044
540	239938919	Disease	p.Val1106Asp	VAR_010017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010017	- Wilson disease (WD) [MIM:277900]	SWISS	411	COG2216	55743071,NP_000044
540	239938919	Disease	p.Val1106Asp	VAR_010017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010017	- Wilson disease (WD) [MIM:277900]	SWISS	167	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Val1106Ile	VAR_044477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044477	- Wilson disease (WD) [MIM:277900]	SWISS	829	COG0474	55743071,NP_000044
540	239938919	Disease	p.Val1106Ile	VAR_044477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044477	- Wilson disease (WD) [MIM:277900]	SWISS	807_G	COG2217	55743071,NP_000044
540	239938919	Disease	p.Val1106Ile	VAR_044477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044477	- Wilson disease (WD) [MIM:277900]	SWISS	411	COG2216	55743071,NP_000044
540	239938919	Disease	p.Val1106Ile	VAR_044477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044477	- Wilson disease (WD) [MIM:277900]	SWISS	167	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Gly1111Asp	VAR_023032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023032	- Wilson disease (WD) [MIM:277900]	SWISS	836	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1111Asp	VAR_023032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023032	- Wilson disease (WD) [MIM:277900]	SWISS	810	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1111Asp	VAR_023032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023032	- Wilson disease (WD) [MIM:277900]	SWISS	416	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1111Asp	VAR_023032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023032	- Wilson disease (WD) [MIM:277900]	SWISS	172	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Gln1142His	VAR_000766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000766	- Wilson disease (WD) [MIM:277900]	SWISS	922	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gln1142His	VAR_000766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000766	- Wilson disease (WD) [MIM:277900]	SWISS	824	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gln1142His	VAR_000766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000766	- Wilson disease (WD) [MIM:277900]	SWISS	462	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gln1142His	VAR_000766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000766	- Wilson disease (WD) [MIM:277900]	SWISS	234	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Val1146Met	VAR_000767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000767	- Wilson disease (WD) [MIM:277900]	SWISS	1038	COG0474	55743071,NP_000044
540	239938919	Disease	p.Val1146Met	VAR_000767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000767	- Wilson disease (WD) [MIM:277900]	SWISS	828	COG2217	55743071,NP_000044
540	239938919	Disease	p.Val1146Met	VAR_000767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000767	- Wilson disease (WD) [MIM:277900]	SWISS	469	COG2216	55743071,NP_000044
540	239938919	Disease	p.Val1146Met	VAR_000767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000767	- Wilson disease (WD) [MIM:277900]	SWISS	238	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Ile1148Thr	VAR_000768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000768	rs60431989 Wilson disease (WD) [MIM:277900]	SWISS	1040	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ile1148Thr	VAR_000768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000768	rs60431989 Wilson disease (WD) [MIM:277900]	SWISS	830	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ile1148Thr	VAR_000768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000768	rs60431989 Wilson disease (WD) [MIM:277900]	SWISS	471	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ile1148Thr	VAR_000768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000768	rs60431989 Wilson disease (WD) [MIM:277900]	SWISS	240	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Gly1149Ala	VAR_058930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058930	- Wilson disease (WD) [MIM:277900]	SWISS	1041	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1149Ala	VAR_058930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058930	- Wilson disease (WD) [MIM:277900]	SWISS	831	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1149Ala	VAR_058930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058930	- Wilson disease (WD) [MIM:277900]	SWISS	472	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1149Ala	VAR_058930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058930	- Wilson disease (WD) [MIM:277900]	SWISS	241	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Arg1151His	VAR_009022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009022	- Wilson disease (WD) [MIM:277900]	SWISS	1043	COG0474	55743071,NP_000044
540	239938919	Disease	p.Arg1151His	VAR_009022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009022	- Wilson disease (WD) [MIM:277900]	SWISS	833	COG2217	55743071,NP_000044
540	239938919	Disease	p.Arg1151His	VAR_009022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009022	- Wilson disease (WD) [MIM:277900]	SWISS	474	COG2216	55743071,NP_000044
540	239938919	Disease	p.Arg1151His	VAR_009022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009022	- Wilson disease (WD) [MIM:277900]	SWISS	243	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Trp1153Cys	VAR_000769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000769	- Wilson disease (WD) [MIM:277900]	SWISS	1045	COG0474	55743071,NP_000044
540	239938919	Disease	p.Trp1153Cys	VAR_000769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000769	- Wilson disease (WD) [MIM:277900]	SWISS	835	COG2217	55743071,NP_000044
540	239938919	Disease	p.Trp1153Cys	VAR_000769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000769	- Wilson disease (WD) [MIM:277900]	SWISS	476	COG2216	55743071,NP_000044
540	239938919	Disease	p.Trp1153Cys	VAR_000769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000769	- Wilson disease (WD) [MIM:277900]	SWISS	245	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Trp1153Arg	VAR_010018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010018	- Wilson disease (WD) [MIM:277900]	SWISS	1045	COG0474	55743071,NP_000044
540	239938919	Disease	p.Trp1153Arg	VAR_010018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010018	- Wilson disease (WD) [MIM:277900]	SWISS	835	COG2217	55743071,NP_000044
540	239938919	Disease	p.Trp1153Arg	VAR_010018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010018	- Wilson disease (WD) [MIM:277900]	SWISS	476	COG2216	55743071,NP_000044
540	239938919	Disease	p.Trp1153Arg	VAR_010018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010018	- Wilson disease (WD) [MIM:277900]	SWISS	245	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Asp1164Asn	VAR_058931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058931	- Wilson disease (WD) [MIM:277900]	SWISS	1160	COG0474	55743071,NP_000044
540	239938919	Disease	p.Asp1164Asn	VAR_058931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058931	- Wilson disease (WD) [MIM:277900]	SWISS	848	COG2217	55743071,NP_000044
540	239938919	Disease	p.Asp1164Asn	VAR_058931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058931	- Wilson disease (WD) [MIM:277900]	SWISS	487	COG2216	55743071,NP_000044
540	239938919	Disease	p.Asp1164Asn	VAR_058931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058931	- Wilson disease (WD) [MIM:277900]	SWISS	256	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Ala1168Ser	VAR_023034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023034	- Wilson disease (WD) [MIM:277900]	SWISS	1164	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ala1168Ser	VAR_023034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023034	- Wilson disease (WD) [MIM:277900]	SWISS	852	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ala1168Ser	VAR_023034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023034	- Wilson disease (WD) [MIM:277900]	SWISS	491	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ala1168Ser	VAR_023034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023034	- Wilson disease (WD) [MIM:277900]	SWISS	260	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Met1169Thr	VAR_009023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009023	- Wilson disease (WD) [MIM:277900]	SWISS	1165	COG0474	55743071,NP_000044
540	239938919	Disease	p.Met1169Thr	VAR_009023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009023	- Wilson disease (WD) [MIM:277900]	SWISS	853	COG2217	55743071,NP_000044
540	239938919	Disease	p.Met1169Thr	VAR_009023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009023	- Wilson disease (WD) [MIM:277900]	SWISS	492	COG2216	55743071,NP_000044
540	239938919	Disease	p.Met1169Thr	VAR_009023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009023	- Wilson disease (WD) [MIM:277900]	SWISS	261	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Met1169Val	VAR_000770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000770	- Wilson disease (WD) [MIM:277900]	SWISS	1165	COG0474	55743071,NP_000044
540	239938919	Disease	p.Met1169Val	VAR_000770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000770	- Wilson disease (WD) [MIM:277900]	SWISS	853	COG2217	55743071,NP_000044
540	239938919	Disease	p.Met1169Val	VAR_000770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000770	- Wilson disease (WD) [MIM:277900]	SWISS	492	COG2216	55743071,NP_000044
540	239938919	Disease	p.Met1169Val	VAR_000770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000770	- Wilson disease (WD) [MIM:277900]	SWISS	261	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Glu1173Gly	VAR_058932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058932	- Wilson disease (WD) [MIM:277900]	SWISS	5	COG4087	55743071,NP_000044
540	239938919	Disease	p.Glu1173Gly	VAR_058932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058932	- Wilson disease (WD) [MIM:277900]	SWISS	1174	COG0474	55743071,NP_000044
540	239938919	Disease	p.Glu1173Gly	VAR_058932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058932	- Wilson disease (WD) [MIM:277900]	SWISS	857	COG2217	55743071,NP_000044
540	239938919	Disease	p.Glu1173Gly	VAR_058932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058932	- Wilson disease (WD) [MIM:277900]	SWISS	496	COG2216	55743071,NP_000044
540	239938919	Disease	p.Glu1173Gly	VAR_058932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058932	- Wilson disease (WD) [MIM:277900]	SWISS	265	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Glu1173Lys	VAR_009024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009024	- Wilson disease (WD) [MIM:277900]	SWISS	5	COG4087	55743071,NP_000044
540	239938919	Disease	p.Glu1173Lys	VAR_009024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009024	- Wilson disease (WD) [MIM:277900]	SWISS	1174	COG0474	55743071,NP_000044
540	239938919	Disease	p.Glu1173Lys	VAR_009024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009024	- Wilson disease (WD) [MIM:277900]	SWISS	857	COG2217	55743071,NP_000044
540	239938919	Disease	p.Glu1173Lys	VAR_009024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009024	- Wilson disease (WD) [MIM:277900]	SWISS	496	COG2216	55743071,NP_000044
540	239938919	Disease	p.Glu1173Lys	VAR_009024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009024	- Wilson disease (WD) [MIM:277900]	SWISS	265	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Gly1176Glu	VAR_044478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044478	- Wilson disease (WD) [MIM:277900]	SWISS	8	COG4087	55743071,NP_000044
540	239938919	Disease	p.Gly1176Glu	VAR_044478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044478	- Wilson disease (WD) [MIM:277900]	SWISS	1177	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1176Glu	VAR_044478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044478	- Wilson disease (WD) [MIM:277900]	SWISS	860	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1176Glu	VAR_044478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044478	- Wilson disease (WD) [MIM:277900]	SWISS	499	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1176Glu	VAR_044478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044478	- Wilson disease (WD) [MIM:277900]	SWISS	268	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Gly1176Arg	VAR_010019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010019	- Wilson disease (WD) [MIM:277900]	SWISS	8	COG4087	55743071,NP_000044
540	239938919	Disease	p.Gly1176Arg	VAR_010019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010019	- Wilson disease (WD) [MIM:277900]	SWISS	1177	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1176Arg	VAR_010019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010019	- Wilson disease (WD) [MIM:277900]	SWISS	860	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1176Arg	VAR_010019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010019	- Wilson disease (WD) [MIM:277900]	SWISS	499	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1176Arg	VAR_010019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010019	- Wilson disease (WD) [MIM:277900]	SWISS	268	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Ala1183Gly	VAR_000771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000771	- Wilson disease (WD) [MIM:277900]	SWISS	15	COG4087	55743071,NP_000044
540	239938919	Disease	p.Ala1183Gly	VAR_000771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000771	- Wilson disease (WD) [MIM:277900]	SWISS	1198	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ala1183Gly	VAR_000771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000771	- Wilson disease (WD) [MIM:277900]	SWISS	878	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ala1183Gly	VAR_000771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000771	- Wilson disease (WD) [MIM:277900]	SWISS	506	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ala1183Gly	VAR_000771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000771	- Wilson disease (WD) [MIM:277900]	SWISS	275	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Ala1183Gly	VAR_000771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000771	- Wilson disease (WD) [MIM:277900]	SWISS	5	cd01427	55743071,NP_000044
540	239938919	Disease	p.Ala1183Thr	VAR_000772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000772	- Wilson disease (WD) [MIM:277900]	SWISS	15	COG4087	55743071,NP_000044
540	239938919	Disease	p.Ala1183Thr	VAR_000772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000772	- Wilson disease (WD) [MIM:277900]	SWISS	1198	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ala1183Thr	VAR_000772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000772	- Wilson disease (WD) [MIM:277900]	SWISS	878	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ala1183Thr	VAR_000772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000772	- Wilson disease (WD) [MIM:277900]	SWISS	506	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ala1183Thr	VAR_000772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000772	- Wilson disease (WD) [MIM:277900]	SWISS	275	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Ala1183Thr	VAR_000772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000772	- Wilson disease (WD) [MIM:277900]	SWISS	5	cd01427	55743071,NP_000044
540	239938919	Disease	p.Gly1186Cys	VAR_000773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000773	- Wilson disease (WD) [MIM:277900]	SWISS	19	COG4087	55743071,NP_000044
540	239938919	Disease	p.Gly1186Cys	VAR_000773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000773	- Wilson disease (WD) [MIM:277900]	SWISS	1201	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1186Cys	VAR_000773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000773	- Wilson disease (WD) [MIM:277900]	SWISS	881	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1186Cys	VAR_000773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000773	- Wilson disease (WD) [MIM:277900]	SWISS	514	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1186Cys	VAR_000773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000773	- Wilson disease (WD) [MIM:277900]	SWISS	278	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Gly1186Cys	VAR_000773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000773	- Wilson disease (WD) [MIM:277900]	SWISS	8	cd01427	55743071,NP_000044
540	239938919	Disease	p.Gly1186Ser	VAR_000774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000774	- Wilson disease (WD) [MIM:277900]	SWISS	19	COG4087	55743071,NP_000044
540	239938919	Disease	p.Gly1186Ser	VAR_000774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000774	- Wilson disease (WD) [MIM:277900]	SWISS	1201	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1186Ser	VAR_000774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000774	- Wilson disease (WD) [MIM:277900]	SWISS	881	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1186Ser	VAR_000774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000774	- Wilson disease (WD) [MIM:277900]	SWISS	514	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1186Ser	VAR_000774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000774	- Wilson disease (WD) [MIM:277900]	SWISS	278	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Gly1186Ser	VAR_000774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000774	- Wilson disease (WD) [MIM:277900]	SWISS	8	cd01427	55743071,NP_000044
540	239938919	Disease	p.Gly1213Val	VAR_000775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000775	- Wilson disease (WD) [MIM:277900]	SWISS	46	COG4087	55743071,NP_000044
540	239938919	Disease	p.Gly1213Val	VAR_000775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000775	- Wilson disease (WD) [MIM:277900]	SWISS	1234	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1213Val	VAR_000775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000775	- Wilson disease (WD) [MIM:277900]	SWISS	918	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1213Val	VAR_000775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000775	- Wilson disease (WD) [MIM:277900]	SWISS	541	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1213Val	VAR_000775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000775	- Wilson disease (WD) [MIM:277900]	SWISS	308	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Gly1213Val	VAR_000775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000775	- Wilson disease (WD) [MIM:277900]	SWISS	232	cd01427	55743071,NP_000044
540	239938919	Disease	p.Val1216Met	VAR_000776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000776	- Wilson disease (WD) [MIM:277900]	SWISS	49	COG4087	55743071,NP_000044
540	239938919	Disease	p.Val1216Met	VAR_000776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000776	- Wilson disease (WD) [MIM:277900]	SWISS	1237	COG0474	55743071,NP_000044
540	239938919	Disease	p.Val1216Met	VAR_000776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000776	- Wilson disease (WD) [MIM:277900]	SWISS	923	COG2217	55743071,NP_000044
540	239938919	Disease	p.Val1216Met	VAR_000776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000776	- Wilson disease (WD) [MIM:277900]	SWISS	544	COG2216	55743071,NP_000044
540	239938919	Disease	p.Val1216Met	VAR_000776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000776	- Wilson disease (WD) [MIM:277900]	SWISS	332	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Val1216Met	VAR_000776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000776	- Wilson disease (WD) [MIM:277900]	SWISS	235	cd01427	55743071,NP_000044
540	239938919	Disease	p.Thr1220Met	VAR_000778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000778	- Wilson disease (WD) [MIM:277900]	SWISS	53	COG4087	55743071,NP_000044
540	239938919	Disease	p.Thr1220Met	VAR_000778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000778	- Wilson disease (WD) [MIM:277900]	SWISS	1241	COG0474	55743071,NP_000044
540	239938919	Disease	p.Thr1220Met	VAR_000778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000778	- Wilson disease (WD) [MIM:277900]	SWISS	927	COG2217	55743071,NP_000044
540	239938919	Disease	p.Thr1220Met	VAR_000778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000778	- Wilson disease (WD) [MIM:277900]	SWISS	548	COG2216	55743071,NP_000044
540	239938919	Disease	p.Thr1220Met	VAR_000778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000778	- Wilson disease (WD) [MIM:277900]	SWISS	336	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Thr1220Met	VAR_000778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000778	- Wilson disease (WD) [MIM:277900]	SWISS	239	cd01427	55743071,NP_000044
540	239938919	Disease	p.Gly1221Glu	VAR_044480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044480	- Wilson disease (WD) [MIM:277900]	SWISS	54	COG4087	55743071,NP_000044
540	239938919	Disease	p.Gly1221Glu	VAR_044480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044480	- Wilson disease (WD) [MIM:277900]	SWISS	1242	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1221Glu	VAR_044480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044480	- Wilson disease (WD) [MIM:277900]	SWISS	928	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1221Glu	VAR_044480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044480	- Wilson disease (WD) [MIM:277900]	SWISS	549	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1221Glu	VAR_044480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044480	- Wilson disease (WD) [MIM:277900]	SWISS	337	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Gly1221Glu	VAR_044480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044480	- Wilson disease (WD) [MIM:277900]	SWISS	240	cd01427	55743071,NP_000044
540	239938919	Disease	p.Asp1222Asn	VAR_044481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044481	- Wilson disease (WD) [MIM:277900]	SWISS	55	COG4087	55743071,NP_000044
540	239938919	Disease	p.Asp1222Asn	VAR_044481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044481	- Wilson disease (WD) [MIM:277900]	SWISS	1243	COG0474	55743071,NP_000044
540	239938919	Disease	p.Asp1222Asn	VAR_044481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044481	- Wilson disease (WD) [MIM:277900]	SWISS	929	COG2217	55743071,NP_000044
540	239938919	Disease	p.Asp1222Asn	VAR_044481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044481	- Wilson disease (WD) [MIM:277900]	SWISS	550	COG2216	55743071,NP_000044
540	239938919	Disease	p.Asp1222Asn	VAR_044481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044481	- Wilson disease (WD) [MIM:277900]	SWISS	338	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Asp1222Asn	VAR_044481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044481	- Wilson disease (WD) [MIM:277900]	SWISS	241	cd01427	55743071,NP_000044
540	239938919	Disease	p.Asp1222Val	VAR_010020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010020	- Wilson disease (WD) [MIM:277900]	SWISS	55	COG4087	55743071,NP_000044
540	239938919	Disease	p.Asp1222Val	VAR_010020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010020	- Wilson disease (WD) [MIM:277900]	SWISS	1243	COG0474	55743071,NP_000044
540	239938919	Disease	p.Asp1222Val	VAR_010020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010020	- Wilson disease (WD) [MIM:277900]	SWISS	929	COG2217	55743071,NP_000044
540	239938919	Disease	p.Asp1222Val	VAR_010020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010020	- Wilson disease (WD) [MIM:277900]	SWISS	550	COG2216	55743071,NP_000044
540	239938919	Disease	p.Asp1222Val	VAR_010020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010020	- Wilson disease (WD) [MIM:277900]	SWISS	338	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Asp1222Val	VAR_010020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010020	- Wilson disease (WD) [MIM:277900]	SWISS	241	cd01427	55743071,NP_000044
540	239938919	Disease	p.Asp1222Tyr	VAR_000779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000779	- Wilson disease (WD) [MIM:277900]	SWISS	55	COG4087	55743071,NP_000044
540	239938919	Disease	p.Asp1222Tyr	VAR_000779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000779	- Wilson disease (WD) [MIM:277900]	SWISS	1243	COG0474	55743071,NP_000044
540	239938919	Disease	p.Asp1222Tyr	VAR_000779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000779	- Wilson disease (WD) [MIM:277900]	SWISS	929	COG2217	55743071,NP_000044
540	239938919	Disease	p.Asp1222Tyr	VAR_000779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000779	- Wilson disease (WD) [MIM:277900]	SWISS	550	COG2216	55743071,NP_000044
540	239938919	Disease	p.Asp1222Tyr	VAR_000779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000779	- Wilson disease (WD) [MIM:277900]	SWISS	338	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Asp1222Tyr	VAR_000779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000779	- Wilson disease (WD) [MIM:277900]	SWISS	241	cd01427	55743071,NP_000044
540	239938919	Disease	p.Arg1228Thr	VAR_058933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058933	- Wilson disease (WD) [MIM:277900]	SWISS	61	COG4087	55743071,NP_000044
540	239938919	Disease	p.Arg1228Thr	VAR_058933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058933	- Wilson disease (WD) [MIM:277900]	SWISS	1249	COG0474	55743071,NP_000044
540	239938919	Disease	p.Arg1228Thr	VAR_058933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058933	- Wilson disease (WD) [MIM:277900]	SWISS	935	COG2217	55743071,NP_000044
540	239938919	Disease	p.Arg1228Thr	VAR_058933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058933	- Wilson disease (WD) [MIM:277900]	SWISS	556	COG2216	55743071,NP_000044
540	239938919	Disease	p.Arg1228Thr	VAR_058933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058933	- Wilson disease (WD) [MIM:277900]	SWISS	344	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Arg1228Thr	VAR_058933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058933	- Wilson disease (WD) [MIM:277900]	SWISS	289	cd01427	55743071,NP_000044
540	239938919	Disease	p.Ile1230Val	VAR_058934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058934	- Wilson disease (WD) [MIM:277900]	SWISS	63	COG4087	55743071,NP_000044
540	239938919	Disease	p.Ile1230Val	VAR_058934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058934	- Wilson disease (WD) [MIM:277900]	SWISS	1251	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ile1230Val	VAR_058934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058934	- Wilson disease (WD) [MIM:277900]	SWISS	937	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ile1230Val	VAR_058934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058934	- Wilson disease (WD) [MIM:277900]	SWISS	558	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ile1230Val	VAR_058934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058934	- Wilson disease (WD) [MIM:277900]	SWISS	369	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Ile1230Val	VAR_058934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058934	- Wilson disease (WD) [MIM:277900]	SWISS	291	cd01427	55743071,NP_000044
540	239938919	Disease	p.Thr1232Pro	VAR_023035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023035	- Wilson disease (WD) [MIM:277900]	SWISS	65	COG4087	55743071,NP_000044
540	239938919	Disease	p.Thr1232Pro	VAR_023035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023035	- Wilson disease (WD) [MIM:277900]	SWISS	1253	COG0474	55743071,NP_000044
540	239938919	Disease	p.Thr1232Pro	VAR_023035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023035	- Wilson disease (WD) [MIM:277900]	SWISS	939	COG2217	55743071,NP_000044
540	239938919	Disease	p.Thr1232Pro	VAR_023035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023035	- Wilson disease (WD) [MIM:277900]	SWISS	560	COG2216	55743071,NP_000044
540	239938919	Disease	p.Thr1232Pro	VAR_023035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023035	- Wilson disease (WD) [MIM:277900]	SWISS	371	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Thr1232Pro	VAR_023035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023035	- Wilson disease (WD) [MIM:277900]	SWISS	293	cd01427	55743071,NP_000044
540	239938919	Disease	p.Val1239Gly	VAR_009026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009026	- Wilson disease (WD) [MIM:277900]	SWISS	76	COG4087	55743071,NP_000044
540	239938919	Disease	p.Val1239Gly	VAR_009026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009026	- Wilson disease (WD) [MIM:277900]	SWISS	1364	COG0474	55743071,NP_000044
540	239938919	Disease	p.Val1239Gly	VAR_009026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009026	- Wilson disease (WD) [MIM:277900]	SWISS	948	COG2217	55743071,NP_000044
540	239938919	Disease	p.Val1239Gly	VAR_009026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009026	- Wilson disease (WD) [MIM:277900]	SWISS	567	COG2216	55743071,NP_000044
540	239938919	Disease	p.Val1239Gly	VAR_009026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009026	- Wilson disease (WD) [MIM:277900]	SWISS	378	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Val1239Gly	VAR_009026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009026	- Wilson disease (WD) [MIM:277900]	SWISS	307	cd01427	55743071,NP_000044
540	239938919	Disease	p.Lys1248Asn	VAR_023037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023037	- Wilson disease (WD) [MIM:277900]	SWISS	85	COG4087	55743071,NP_000044
540	239938919	Disease	p.Lys1248Asn	VAR_023037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023037	- Wilson disease (WD) [MIM:277900]	SWISS	1373	COG0474	55743071,NP_000044
540	239938919	Disease	p.Lys1248Asn	VAR_023037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023037	- Wilson disease (WD) [MIM:277900]	SWISS	957	COG2217	55743071,NP_000044
540	239938919	Disease	p.Lys1248Asn	VAR_023037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023037	- Wilson disease (WD) [MIM:277900]	SWISS	576	COG2216	55743071,NP_000044
540	239938919	Disease	p.Lys1248Asn	VAR_023037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023037	- Wilson disease (WD) [MIM:277900]	SWISS	421	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Lys1248Asn	VAR_023037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023037	- Wilson disease (WD) [MIM:277900]	SWISS	470	cd01427	55743071,NP_000044
540	239938919	Disease	p.Val1252Ile	VAR_044482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044482	- Wilson disease (WD) [MIM:277900]	SWISS	89	COG4087	55743071,NP_000044
540	239938919	Disease	p.Val1252Ile	VAR_044482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044482	- Wilson disease (WD) [MIM:277900]	SWISS	1377	COG0474	55743071,NP_000044
540	239938919	Disease	p.Val1252Ile	VAR_044482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044482	- Wilson disease (WD) [MIM:277900]	SWISS	961	COG2217	55743071,NP_000044
540	239938919	Disease	p.Val1252Ile	VAR_044482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044482	- Wilson disease (WD) [MIM:277900]	SWISS	580	COG2216	55743071,NP_000044
540	239938919	Disease	p.Val1252Ile	VAR_044482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044482	- Wilson disease (WD) [MIM:277900]	SWISS	425	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Val1252Ile	VAR_044482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044482	- Wilson disease (WD) [MIM:277900]	SWISS	474	cd01427	55743071,NP_000044
540	239938919	Disease	p.Leu1255Ile	VAR_023038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023038	- Wilson disease (WD) [MIM:277900]	SWISS	92	COG4087	55743071,NP_000044
540	239938919	Disease	p.Leu1255Ile	VAR_023038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023038	- Wilson disease (WD) [MIM:277900]	SWISS	1380	COG0474	55743071,NP_000044
540	239938919	Disease	p.Leu1255Ile	VAR_023038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023038	- Wilson disease (WD) [MIM:277900]	SWISS	964	COG2217	55743071,NP_000044
540	239938919	Disease	p.Leu1255Ile	VAR_023038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023038	- Wilson disease (WD) [MIM:277900]	SWISS	583	COG2216	55743071,NP_000044
540	239938919	Disease	p.Leu1255Ile	VAR_023038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023038	- Wilson disease (WD) [MIM:277900]	SWISS	428	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Leu1255Ile	VAR_023038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023038	- Wilson disease (WD) [MIM:277900]	SWISS	477	cd01427	55743071,NP_000044
540	239938919	Disease	p.Gln1256Arg	VAR_044483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044483	- Wilson disease (WD) [MIM:277900]	SWISS	93	COG4087	55743071,NP_000044
540	239938919	Disease	p.Gln1256Arg	VAR_044483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044483	- Wilson disease (WD) [MIM:277900]	SWISS	1381	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gln1256Arg	VAR_044483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044483	- Wilson disease (WD) [MIM:277900]	SWISS	965	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gln1256Arg	VAR_044483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044483	- Wilson disease (WD) [MIM:277900]	SWISS	584	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gln1256Arg	VAR_044483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044483	- Wilson disease (WD) [MIM:277900]	SWISS	429	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Gln1256Arg	VAR_044483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044483	- Wilson disease (WD) [MIM:277900]	SWISS	478	cd01427	55743071,NP_000044
540	239938919	Disease	p.Val1262Phe	VAR_009027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009027	- Wilson disease (WD) [MIM:277900]	SWISS	101	COG4087	55743071,NP_000044
540	239938919	Disease	p.Val1262Phe	VAR_009027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009027	- Wilson disease (WD) [MIM:277900]	SWISS	1389	COG0474	55743071,NP_000044
540	239938919	Disease	p.Val1262Phe	VAR_009027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009027	- Wilson disease (WD) [MIM:277900]	SWISS	981	COG2217	55743071,NP_000044
540	239938919	Disease	p.Val1262Phe	VAR_009027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009027	- Wilson disease (WD) [MIM:277900]	SWISS	590	COG2216	55743071,NP_000044
540	239938919	Disease	p.Val1262Phe	VAR_009027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009027	- Wilson disease (WD) [MIM:277900]	SWISS	455	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Val1262Phe	VAR_009027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009027	- Wilson disease (WD) [MIM:277900]	SWISS	499	cd01427	55743071,NP_000044
540	239938919	Disease	p.Gly1266Arg	VAR_009028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009028	- Wilson disease (WD) [MIM:277900]	SWISS	105	COG4087	55743071,NP_000044
540	239938919	Disease	p.Gly1266Arg	VAR_009028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009028	- Wilson disease (WD) [MIM:277900]	SWISS	1393	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1266Arg	VAR_009028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009028	- Wilson disease (WD) [MIM:277900]	SWISS	985	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1266Arg	VAR_009028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009028	- Wilson disease (WD) [MIM:277900]	SWISS	594	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1266Arg	VAR_009028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009028	- Wilson disease (WD) [MIM:277900]	SWISS	459	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Gly1266Arg	VAR_009028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009028	- Wilson disease (WD) [MIM:277900]	SWISS	503	cd01427	55743071,NP_000044
540	239938919	Disease	p.Gly1266Val	VAR_000781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000781	- Wilson disease (WD) [MIM:277900]	SWISS	105	COG4087	55743071,NP_000044
540	239938919	Disease	p.Gly1266Val	VAR_000781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000781	- Wilson disease (WD) [MIM:277900]	SWISS	1393	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1266Val	VAR_000781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000781	- Wilson disease (WD) [MIM:277900]	SWISS	985	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1266Val	VAR_000781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000781	- Wilson disease (WD) [MIM:277900]	SWISS	594	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1266Val	VAR_000781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000781	- Wilson disease (WD) [MIM:277900]	SWISS	459	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Gly1266Val	VAR_000781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000781	- Wilson disease (WD) [MIM:277900]	SWISS	503	cd01427	55743071,NP_000044
540	239938919	Disease	p.Asp1267Ala	VAR_000782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000782	- Wilson disease (WD) [MIM:277900]	SWISS	106	COG4087	55743071,NP_000044
540	239938919	Disease	p.Asp1267Ala	VAR_000782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000782	- Wilson disease (WD) [MIM:277900]	SWISS	1394	COG0474	55743071,NP_000044
540	239938919	Disease	p.Asp1267Ala	VAR_000782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000782	- Wilson disease (WD) [MIM:277900]	SWISS	986	COG2217	55743071,NP_000044
540	239938919	Disease	p.Asp1267Ala	VAR_000782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000782	- Wilson disease (WD) [MIM:277900]	SWISS	595	COG2216	55743071,NP_000044
540	239938919	Disease	p.Asp1267Ala	VAR_000782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000782	- Wilson disease (WD) [MIM:277900]	SWISS	460	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Asp1267Ala	VAR_000782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000782	- Wilson disease (WD) [MIM:277900]	SWISS	504	cd01427	55743071,NP_000044
540	239938919	Disease	p.Asp1267Val	VAR_058935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058935	- Wilson disease (WD) [MIM:277900]	SWISS	106	COG4087	55743071,NP_000044
540	239938919	Disease	p.Asp1267Val	VAR_058935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058935	- Wilson disease (WD) [MIM:277900]	SWISS	1394	COG0474	55743071,NP_000044
540	239938919	Disease	p.Asp1267Val	VAR_058935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058935	- Wilson disease (WD) [MIM:277900]	SWISS	986	COG2217	55743071,NP_000044
540	239938919	Disease	p.Asp1267Val	VAR_058935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058935	- Wilson disease (WD) [MIM:277900]	SWISS	595	COG2216	55743071,NP_000044
540	239938919	Disease	p.Asp1267Val	VAR_058935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058935	- Wilson disease (WD) [MIM:277900]	SWISS	460	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Asp1267Val	VAR_058935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058935	- Wilson disease (WD) [MIM:277900]	SWISS	504	cd01427	55743071,NP_000044
540	239938919	Disease	p.Asn1270Ser	VAR_000783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000783	- Wilson disease (WD) [MIM:277900]	SWISS	109	COG4087	55743071,NP_000044
540	239938919	Disease	p.Asn1270Ser	VAR_000783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000783	- Wilson disease (WD) [MIM:277900]	SWISS	1397	COG0474	55743071,NP_000044
540	239938919	Disease	p.Asn1270Ser	VAR_000783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000783	- Wilson disease (WD) [MIM:277900]	SWISS	989	COG2217	55743071,NP_000044
540	239938919	Disease	p.Asn1270Ser	VAR_000783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000783	- Wilson disease (WD) [MIM:277900]	SWISS	598	COG2216	55743071,NP_000044
540	239938919	Disease	p.Asn1270Ser	VAR_000783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000783	- Wilson disease (WD) [MIM:277900]	SWISS	463	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Asn1270Ser	VAR_000783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000783	- Wilson disease (WD) [MIM:277900]	SWISS	524	cd01427	55743071,NP_000044
540	239938919	Disease	p.Asp1271Asn	VAR_023039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023039	- Wilson disease (WD) [MIM:277900]	SWISS	110	COG4087	55743071,NP_000044
540	239938919	Disease	p.Asp1271Asn	VAR_023039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023039	- Wilson disease (WD) [MIM:277900]	SWISS	1398	COG0474	55743071,NP_000044
540	239938919	Disease	p.Asp1271Asn	VAR_023039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023039	- Wilson disease (WD) [MIM:277900]	SWISS	990	COG2217	55743071,NP_000044
540	239938919	Disease	p.Asp1271Asn	VAR_023039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023039	- Wilson disease (WD) [MIM:277900]	SWISS	599	COG2216	55743071,NP_000044
540	239938919	Disease	p.Asp1271Asn	VAR_023039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023039	- Wilson disease (WD) [MIM:277900]	SWISS	464	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Asp1271Asn	VAR_023039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023039	- Wilson disease (WD) [MIM:277900]	SWISS	525	cd01427	55743071,NP_000044
540	239938919	Disease	p.Pro1273Leu	VAR_000784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000784	- Wilson disease (WD) [MIM:277900]	SWISS	112	COG4087	55743071,NP_000044
540	239938919	Disease	p.Pro1273Leu	VAR_000784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000784	- Wilson disease (WD) [MIM:277900]	SWISS	1400	COG0474	55743071,NP_000044
540	239938919	Disease	p.Pro1273Leu	VAR_000784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000784	- Wilson disease (WD) [MIM:277900]	SWISS	992	COG2217	55743071,NP_000044
540	239938919	Disease	p.Pro1273Leu	VAR_000784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000784	- Wilson disease (WD) [MIM:277900]	SWISS	601	COG2216	55743071,NP_000044
540	239938919	Disease	p.Pro1273Leu	VAR_000784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000784	- Wilson disease (WD) [MIM:277900]	SWISS	466	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Pro1273Leu	VAR_000784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000784	- Wilson disease (WD) [MIM:277900]	SWISS	527	cd01427	55743071,NP_000044
540	239938919	Disease	p.Ala1278Val	VAR_000785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000785	- Wilson disease (WD) [MIM:277900]	SWISS	117	COG4087	55743071,NP_000044
540	239938919	Disease	p.Ala1278Val	VAR_000785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000785	- Wilson disease (WD) [MIM:277900]	SWISS	1405	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ala1278Val	VAR_000785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000785	- Wilson disease (WD) [MIM:277900]	SWISS	997	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ala1278Val	VAR_000785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000785	- Wilson disease (WD) [MIM:277900]	SWISS	606	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ala1278Val	VAR_000785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000785	- Wilson disease (WD) [MIM:277900]	SWISS	472	pfam00702	55743071,NP_000044
540	239938919	Disease	p.Ala1278Val	VAR_000785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000785	- Wilson disease (WD) [MIM:277900]	SWISS	547	cd01427	55743071,NP_000044
540	239938919	Disease	p.Asp1279Gly	VAR_023040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023040	- Wilson disease (WD) [MIM:277900]	SWISS	118	COG4087	55743071,NP_000044
540	239938919	Disease	p.Asp1279Gly	VAR_023040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023040	- Wilson disease (WD) [MIM:277900]	SWISS	1406	COG0474	55743071,NP_000044
540	239938919	Disease	p.Asp1279Gly	VAR_023040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023040	- Wilson disease (WD) [MIM:277900]	SWISS	998	COG2217	55743071,NP_000044
540	239938919	Disease	p.Asp1279Gly	VAR_023040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023040	- Wilson disease (WD) [MIM:277900]	SWISS	607	COG2216	55743071,NP_000044
540	239938919	Disease	p.Asp1279Gly	VAR_023040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023040	- Wilson disease (WD) [MIM:277900]	SWISS	548	cd01427	55743071,NP_000044
540	239938919	Disease	p.Asp1279Tyr	VAR_044484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044484	- Wilson disease (WD) [MIM:277900]	SWISS	118	COG4087	55743071,NP_000044
540	239938919	Disease	p.Asp1279Tyr	VAR_044484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044484	- Wilson disease (WD) [MIM:277900]	SWISS	1406	COG0474	55743071,NP_000044
540	239938919	Disease	p.Asp1279Tyr	VAR_044484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044484	- Wilson disease (WD) [MIM:277900]	SWISS	998	COG2217	55743071,NP_000044
540	239938919	Disease	p.Asp1279Tyr	VAR_044484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044484	- Wilson disease (WD) [MIM:277900]	SWISS	607	COG2216	55743071,NP_000044
540	239938919	Disease	p.Asp1279Tyr	VAR_044484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044484	- Wilson disease (WD) [MIM:277900]	SWISS	548	cd01427	55743071,NP_000044
540	239938919	Disease	p.Gly1287Ser	VAR_044485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044485	- Wilson disease (WD) [MIM:277900]	SWISS	127	COG4087	55743071,NP_000044
540	239938919	Disease	p.Gly1287Ser	VAR_044485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044485	- Wilson disease (WD) [MIM:277900]	SWISS	1484	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1287Ser	VAR_044485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044485	- Wilson disease (WD) [MIM:277900]	SWISS	1012	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1287Ser	VAR_044485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044485	- Wilson disease (WD) [MIM:277900]	SWISS	615	COG2216	55743071,NP_000044
540	239938919	Disease	p.Asp1296Asn	VAR_044486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044486	- Wilson disease (WD) [MIM:277900]	SWISS	139	COG4087	55743071,NP_000044
540	239938919	Disease	p.Asp1296Asn	VAR_044486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044486	- Wilson disease (WD) [MIM:277900]	SWISS	1541	COG0474	55743071,NP_000044
540	239938919	Disease	p.Asp1296Asn	VAR_044486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044486	- Wilson disease (WD) [MIM:277900]	SWISS	1021	COG2217	55743071,NP_000044
540	239938919	Disease	p.Asp1296Asn	VAR_044486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044486	- Wilson disease (WD) [MIM:277900]	SWISS	637	COG2216	55743071,NP_000044
540	239938919	Disease	p.Leu1305Pro	VAR_023041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023041	- Wilson disease (WD) [MIM:277900]	SWISS	149	COG4087	55743071,NP_000044
540	239938919	Disease	p.Leu1305Pro	VAR_023041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023041	- Wilson disease (WD) [MIM:277900]	SWISS	1550	COG0474	55743071,NP_000044
540	239938919	Disease	p.Leu1305Pro	VAR_023041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023041	- Wilson disease (WD) [MIM:277900]	SWISS	1036	COG2217	55743071,NP_000044
540	239938919	Disease	p.Leu1305Pro	VAR_023041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023041	- Wilson disease (WD) [MIM:277900]	SWISS	646	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ser1310Arg	VAR_000787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000787	- Wilson disease (WD) [MIM:277900]	SWISS	154	COG4087	55743071,NP_000044
540	239938919	Disease	p.Ser1310Arg	VAR_000787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000787	- Wilson disease (WD) [MIM:277900]	SWISS	1555	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ser1310Arg	VAR_000787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000787	- Wilson disease (WD) [MIM:277900]	SWISS	1041	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ser1310Arg	VAR_000787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000787	- Wilson disease (WD) [MIM:277900]	SWISS	675	COG2216	55743071,NP_000044
540	239938919	Disease	p.Arg1322Pro	VAR_000788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000788	- Wilson disease (WD) [MIM:277900]	SWISS	1567	COG0474	55743071,NP_000044
540	239938919	Disease	p.Arg1322Pro	VAR_000788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000788	- Wilson disease (WD) [MIM:277900]	SWISS	1053	COG2217	55743071,NP_000044
540	239938919	Disease	p.Arg1322Pro	VAR_000788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000788	- Wilson disease (WD) [MIM:277900]	SWISS	688	COG2216	55743071,NP_000044
540	239938919	Disease	p.Leu1327Val	VAR_009030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009030	- Wilson disease (WD) [MIM:277900]	SWISS	1583	COG0474	55743071,NP_000044
540	239938919	Disease	p.Leu1327Val	VAR_009030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009030	- Wilson disease (WD) [MIM:277900]	SWISS	1058	COG2217	55743071,NP_000044
540	239938919	Disease	p.Leu1327Val	VAR_009030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009030	- Wilson disease (WD) [MIM:277900]	SWISS	702	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ala1328Thr	VAR_058936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058936	- Wilson disease (WD) [MIM:277900]	SWISS	1584	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ala1328Thr	VAR_058936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058936	- Wilson disease (WD) [MIM:277900]	SWISS	1059	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ala1328Thr	VAR_058936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058936	- Wilson disease (WD) [MIM:277900]	SWISS	704	COG2216	55743071,NP_000044
540	239938919	Disease	p.Tyr1331Ser	VAR_044488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044488	- Wilson disease (WD) [MIM:277900]	SWISS	1587	COG0474	55743071,NP_000044
540	239938919	Disease	p.Tyr1331Ser	VAR_044488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044488	- Wilson disease (WD) [MIM:277900]	SWISS	1062	COG2217	55743071,NP_000044
540	239938919	Disease	p.Tyr1331Ser	VAR_044488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044488	- Wilson disease (WD) [MIM:277900]	SWISS	707	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ile1336Thr	VAR_023042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023042	- Wilson disease (WD) [MIM:277900]	SWISS	1592	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ile1336Thr	VAR_023042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023042	- Wilson disease (WD) [MIM:277900]	SWISS	1067	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ile1336Thr	VAR_023042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023042	- Wilson disease (WD) [MIM:277900]	SWISS	716	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1341Asp	VAR_000789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000789	- Wilson disease (WD) [MIM:277900]	SWISS	1630	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1341Asp	VAR_000789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000789	- Wilson disease (WD) [MIM:277900]	SWISS	1072	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1341Asp	VAR_000789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000789	- Wilson disease (WD) [MIM:277900]	SWISS	745	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1341Ser	VAR_044489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044489	- Wilson disease (WD) [MIM:277900]	SWISS	1630	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1341Ser	VAR_044489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044489	- Wilson disease (WD) [MIM:277900]	SWISS	1072	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1341Ser	VAR_044489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044489	- Wilson disease (WD) [MIM:277900]	SWISS	745	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1341Val	VAR_044490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044490	- Wilson disease (WD) [MIM:277900]	SWISS	1630	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1341Val	VAR_044490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044490	- Wilson disease (WD) [MIM:277900]	SWISS	1072	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1341Val	VAR_044490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044490	- Wilson disease (WD) [MIM:277900]	SWISS	745	COG2216	55743071,NP_000044
540	239938919	Disease	p.Pro1352Ser	VAR_044491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044491	- Wilson disease (WD) [MIM:277900]	SWISS	1645	COG0474	55743071,NP_000044
540	239938919	Disease	p.Pro1352Ser	VAR_044491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044491	- Wilson disease (WD) [MIM:277900]	SWISS	1087	COG2217	55743071,NP_000044
540	239938919	Disease	p.Pro1352Ser	VAR_044491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044491	- Wilson disease (WD) [MIM:277900]	SWISS	761	COG2216	55743071,NP_000044
540	239938919	Disease	p.Trp1353Arg	VAR_000790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000790	- Wilson disease (WD) [MIM:277900]	SWISS	1669	COG0474	55743071,NP_000044
540	239938919	Disease	p.Trp1353Arg	VAR_000790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000790	- Wilson disease (WD) [MIM:277900]	SWISS	1088	COG2217	55743071,NP_000044
540	239938919	Disease	p.Trp1353Arg	VAR_000790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000790	- Wilson disease (WD) [MIM:277900]	SWISS	762	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1355Cys	VAR_023043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023043	- Wilson disease (WD) [MIM:277900]	SWISS	1671	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1355Cys	VAR_023043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023043	- Wilson disease (WD) [MIM:277900]	SWISS	1090	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1355Cys	VAR_023043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023043	- Wilson disease (WD) [MIM:277900]	SWISS	764	COG2216	55743071,NP_000044
540	239938919	Disease	p.Gly1355Ser	VAR_010021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010021	- Wilson disease (WD) [MIM:277900]	SWISS	1671	COG0474	55743071,NP_000044
540	239938919	Disease	p.Gly1355Ser	VAR_010021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010021	- Wilson disease (WD) [MIM:277900]	SWISS	1090	COG2217	55743071,NP_000044
540	239938919	Disease	p.Gly1355Ser	VAR_010021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010021	- Wilson disease (WD) [MIM:277900]	SWISS	764	COG2216	55743071,NP_000044
540	239938919	Disease	p.Ala1358Ser	VAR_000791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000791	- Wilson disease (WD) [MIM:277900]	SWISS	1674	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ala1358Ser	VAR_000791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000791	- Wilson disease (WD) [MIM:277900]	SWISS	1093	COG2217	55743071,NP_000044
540	239938919	Disease	p.Met1359Ile	VAR_058937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058937	- Wilson disease (WD) [MIM:277900]	SWISS	1675	COG0474	55743071,NP_000044
540	239938919	Disease	p.Met1359Ile	VAR_058937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058937	- Wilson disease (WD) [MIM:277900]	SWISS	1094	COG2217	55743071,NP_000044
540	239938919	Disease	p.Ser1363Phe	VAR_009031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009031	- Wilson disease (WD) [MIM:277900]	SWISS	1680	COG0474	55743071,NP_000044
540	239938919	Disease	p.Ser1363Phe	VAR_009031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009031	- Wilson disease (WD) [MIM:277900]	SWISS	1098	COG2217	55743071,NP_000044
540	239938919	Disease	p.Leu1368Pro	VAR_044492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044492	- Wilson disease (WD) [MIM:277900]	SWISS	1685	COG0474	55743071,NP_000044
540	239938919	Disease	p.Leu1368Pro	VAR_044492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044492	- Wilson disease (WD) [MIM:277900]	SWISS	1103	COG2217	55743071,NP_000044
540	239938919	Disease	p.Leu1373Pro	VAR_023044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023044	- Wilson disease (WD) [MIM:277900]	SWISS	1693	COG0474	55743071,NP_000044
540	239938919	Disease	p.Leu1373Pro	VAR_023044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023044	- Wilson disease (WD) [MIM:277900]	SWISS	1108	COG2217	55743071,NP_000044
540	239938919	Disease	p.Leu1373Arg	VAR_023045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023045	- Wilson disease (WD) [MIM:277900]	SWISS	1693	COG0474	55743071,NP_000044
540	239938919	Disease	p.Leu1373Arg	VAR_023045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023045	- Wilson disease (WD) [MIM:277900]	SWISS	1108	COG2217	55743071,NP_000044
540	239938919	Disease	p.Cys1375Ser	VAR_044493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044493	- Wilson disease (WD) [MIM:277900]	SWISS	1695	COG0474	55743071,NP_000044
540	239938919	Disease	p.Cys1375Ser	VAR_044493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044493	- Wilson disease (WD) [MIM:277900]	SWISS	1110	COG2217	55743071,NP_000044
540	239938919	Disease	p.Pro1379Ser	VAR_044494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044494	- Wilson disease (WD) [MIM:277900]	SWISS	1699	COG0474	55743071,NP_000044
540	239938919	Disease	p.Pro1379Ser	VAR_044494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044494	- Wilson disease (WD) [MIM:277900]	SWISS	1114	COG2217	55743071,NP_000044
540	239938919	Disease	p.Thr1434Met	VAR_009032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009032	rs60986317 Wilson disease (WD) [MIM:277900]	SWISS	1851	COG0474	55743071,NP_000044
5205	229462999	Disease	p.Asn45Thr	VAR_043044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043044	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	9	COG0474	NULL
5205	229462999	Disease	p.Asp70Asn	VAR_043045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043045	rs34719006 Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]	SWISS	97	COG0474	NULL
5205	229462999	Disease	p.Leu127Pro	VAR_043046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043046	- Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]	SWISS	165	COG0474	NULL
5205	229462999	Disease	p.Lys203Glu	VAR_043047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043047	rs56355310 Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	284	COG0474	NULL
5205	229462999	Disease	p.Lys203Glu	VAR_043047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043047	rs56355310 Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	120	pfam00122	NULL
5205	229462999	Disease	p.Leu288Ser	VAR_008809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008809	- Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]	SWISS	407	COG0474	NULL
5205	229462999	Disease	p.Leu288Ser	VAR_008809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008809	- Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]	SWISS	257	pfam00122	NULL
5205	229462999	Disease	p.Gly308Asp	VAR_043049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043049	rs28939685 Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]	SWISS	446	COG0474	NULL
5205	229462999	Disease	p.Gly308Asp	VAR_043049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043049	rs28939685 Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]	SWISS	311	pfam00122	NULL
5205	229462999	Disease	p.Gly308Val	VAR_008810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008810	rs28939685 Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]	SWISS	446	COG0474	NULL
5205	229462999	Disease	p.Gly308Val	VAR_008810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008810	rs28939685 Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]	SWISS	311	pfam00122	NULL
5205	229462999	Disease	p.Ile344Phe	VAR_043050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043050	- Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]	SWISS	520	COG0474	NULL
5205	229462999	Disease	p.Ile344Phe	VAR_043050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043050	- Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]	SWISS	393	pfam00122	NULL
5205	229462999	Disease	p.Ser403Tyr	VAR_043053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043053	- Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]	SWISS	580	COG0474	NULL
5205	229462999	Disease	p.Ser403Tyr	VAR_043053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043053	- Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]	SWISS	542	pfam00122	NULL
5205	229462999	Disease	p.Arg412Pro	VAR_043054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043054	- Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]	SWISS	589	COG0474	NULL
5205	229462999	Disease	p.Arg412Pro	VAR_043054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043054	- Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]	SWISS	551	pfam00122	NULL
5205	229462999	Disease	p.Ser453Tyr	VAR_043056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043056	- Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]	SWISS	630	COG0474	NULL
5205	229462999	Disease	p.Asp454Gly	VAR_043057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043057	- Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]	SWISS	631	COG0474	NULL
5205	229462999	Disease	p.Thr456Met	VAR_043058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043058	- Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]	SWISS	633	COG0474	NULL
5205	229462999	Disease	p.Tyr500His	VAR_043059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043059	- Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]	SWISS	686	COG0474	NULL
5205	229462999	Disease	p.His535Leu	VAR_043061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043061	- Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]	SWISS	804	COG0474	NULL
5205	229462999	Disease	p.Asp554Asn	VAR_015423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015423	- Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]	SWISS	833	COG0474	NULL
5205	229462999	Disease	p.Arg600Gln	VAR_043063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043063	- Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]	SWISS	914	COG0474	NULL
5205	229462999	Disease	p.Arg600Trp	VAR_043064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043064	- Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]	SWISS	914	COG0474	NULL
5205	229462999	Disease	p.Arg628Trp	VAR_043065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043065	- Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]	SWISS	1049	COG0474	NULL
5205	229462999	Disease	p.Ile661Thr	VAR_008812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008812	rs28939686 Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]	SWISS	1164	COG0474	NULL
5205	229462999	Disease	p.Ile661Thr	VAR_008812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008812	rs28939686 Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]	SWISS	1164	COG0474	NULL
5205	229462999	Disease	p.Asp688Gly	VAR_043067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043067	- Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]	SWISS	1191	COG0474	NULL
5205	229462999	Disease	p.Ile694Thr	VAR_043068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043068	- Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]	SWISS	1197	COG0474	NULL
5205	229462999	Disease	p.Gly733Arg	VAR_043069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043069	- Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]	SWISS	1242	COG0474	NULL
5205	229462999	Disease	p.Phe853Ser	VAR_043071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043071	- Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]	SWISS	1353	COG0474	NULL
5205	229462999	Disease	p.Arg867Cys	VAR_043072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043072	- Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]	SWISS	1367	COG0474	NULL
5205	229462999	Disease	p.Gly892Arg	VAR_008813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008813	- Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]	SWISS	1393	COG0474	NULL
5205	229462999	Disease	p.Gly892Arg	VAR_008813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008813	- Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]	SWISS	1393	COG0474	NULL
5205	229462999	Disease	p.Gly1040Arg	VAR_043073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043073	- Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]	SWISS	1681	COG0474	NULL
91647	73917623	Disease	p.Trp94Arg	VAR_023386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023386	- Mitochondrial encephalocardiomyopathy neonatal due to ATP synthase deficiency (MT-ATPSD) [MIM:604273]	SWISS	86	COG5387	21735485,NP_663729
91647	73917623	Disease	p.Trp94Arg	VAR_023386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023386	- Mitochondrial encephalocardiomyopathy neonatal due to ATP synthase deficiency (MT-ATPSD) [MIM:604273]	SWISS	75	pfam07542	21735485,NP_663729
546	311033500	Disease	p.Gly175Glu	VAR_012113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012113	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	No Domain	N/A	20336209,NP_000480
546	311033500	Disease	p.Asn179Ser	VAR_012115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012115	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	No Domain	N/A	20336209,NP_000480
546	311033500	Disease	p.Pro190Ala	VAR_001226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001226	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	No Domain	N/A	20336209,NP_000480
546	311033500	Disease	p.Pro190Leu	VAR_012116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012116	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	No Domain	N/A	20336209,NP_000480
546	311033500	Disease	p.Pro190Ser	VAR_012117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012117	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	No Domain	N/A	20336209,NP_000480
546	311033500	Disease	p.Leu192Phe	VAR_001227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001227	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	No Domain	N/A	20336209,NP_000480
546	311033500	Disease	p.Val194Ile	VAR_012118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012118	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	No Domain	N/A	20336209,NP_000480
546	311033500	Disease	p.Cys200Ser	VAR_001228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001228	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	No Domain	N/A	20336209,NP_000480
546	311033500	Disease	p.Gln219Pro	VAR_012119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012119	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	No Domain	N/A	20336209,NP_000480
546	311033500	Disease	p.Cys220Arg	VAR_001229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001229	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	No Domain	N/A	20336209,NP_000480
546	311033500	Disease	p.Cys220Tyr	VAR_032625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032625	- Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]	SWISS	No Domain	N/A	20336209,NP_000480
546	311033500	Disease	p.Trp222Ser	VAR_001230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001230	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	No Domain	N/A	20336209,NP_000480
546	311033500	Disease	p.Cys243Phe	VAR_001231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001231	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	No Domain	N/A	20336209,NP_000480
546	311033500	Disease	p.Arg246Cys	VAR_001232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001232	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	No Domain	N/A	20336209,NP_000480
546	311033500	Disease	p.Arg246Leu	VAR_010914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010914	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	No Domain	N/A	20336209,NP_000480
546	311033500	Disease	p.Gly249Cys	VAR_012120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012120	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	No Domain	N/A	20336209,NP_000480
546	311033500	Disease	p.Gly249Asp	VAR_001233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001233	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	No Domain	N/A	20336209,NP_000480
546	311033500	Disease	p.Leu409Ser	VAR_032626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032626	- Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]	SWISS	No Domain	N/A	20336209,NP_000480
546	311033500	Disease	p.Val1538Gly	VAR_012121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012121	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	443	COG0553	20336209,NP_000480
546	311033500	Disease	p.Val1552Phe	VAR_012122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012122	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	457	COG0553	20336209,NP_000480
546	311033500	Disease	p.His1609Arg	VAR_001234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001234	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	22	cd00046	20336209,NP_000480
546	311033500	Disease	p.His1609Arg	VAR_001234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001234	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	149	smart00487	20336209,NP_000480
546	311033500	Disease	p.His1609Arg	VAR_001234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001234	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	606	COG0553	20336209,NP_000480
546	311033500	Disease	p.His1609Arg	VAR_001234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001234	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	77	pfam00176	20336209,NP_000480
546	311033500	Disease	p.Cys1614Arg	VAR_001235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001235	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	27	cd00046	20336209,NP_000480
546	311033500	Disease	p.Cys1614Arg	VAR_001235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001235	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	198	smart00487	20336209,NP_000480
546	311033500	Disease	p.Cys1614Arg	VAR_001235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001235	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	629	COG0553	20336209,NP_000480
546	311033500	Disease	p.Cys1614Arg	VAR_001235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001235	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	82	pfam00176	20336209,NP_000480
546	311033500	Disease	p.Thr1621Met	VAR_016916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016916	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	68	cd00046	20336209,NP_000480
546	311033500	Disease	p.Thr1621Met	VAR_016916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016916	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	447	smart00487	20336209,NP_000480
546	311033500	Disease	p.Thr1621Met	VAR_016916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016916	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	640	COG0553	20336209,NP_000480
546	311033500	Disease	p.Thr1621Met	VAR_016916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016916	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	123	pfam00176	20336209,NP_000480
546	311033500	Disease	p.Leu1645Ser	VAR_012123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012123	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	92	cd00046	20336209,NP_000480
546	311033500	Disease	p.Leu1645Ser	VAR_012123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012123	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	485	smart00487	20336209,NP_000480
546	311033500	Disease	p.Leu1645Ser	VAR_012123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012123	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	667	COG0553	20336209,NP_000480
546	311033500	Disease	p.Leu1645Ser	VAR_012123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012123	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	147	pfam00176	20336209,NP_000480
546	311033500	Disease	p.Lys1650Asn	VAR_001236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001236	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	107	cd00046	20336209,NP_000480
546	311033500	Disease	p.Lys1650Asn	VAR_001236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001236	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	668	smart00487	20336209,NP_000480
546	311033500	Disease	p.Lys1650Asn	VAR_001236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001236	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	672	COG0553	20336209,NP_000480
546	311033500	Disease	p.Lys1650Asn	VAR_001236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001236	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	152	pfam00176	20336209,NP_000480
546	311033500	Disease	p.Pro1713Ser	VAR_012124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012124	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	405	cd00046	20336209,NP_000480
546	311033500	Disease	p.Pro1713Ser	VAR_012124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012124	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	959	smart00487	20336209,NP_000480
546	311033500	Disease	p.Pro1713Ser	VAR_012124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012124	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	793_G	COG0553	20336209,NP_000480
546	311033500	Disease	p.Pro1713Ser	VAR_012124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012124	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	266	pfam00176	20336209,NP_000480
546	311033500	Disease	p.Arg1742Lys	VAR_012125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012125	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	476	cd00046	20336209,NP_000480
546	311033500	Disease	p.Arg1742Lys	VAR_012125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012125	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	1196	smart00487	20336209,NP_000480
546	311033500	Disease	p.Arg1742Lys	VAR_012125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012125	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	830	COG0553	20336209,NP_000480
546	311033500	Disease	p.Arg1742Lys	VAR_012125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012125	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	302	pfam00176	20336209,NP_000480
546	311033500	Disease	p.Tyr1847Cys	VAR_012126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012126	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	1001	COG0553	20336209,NP_000480
546	311033500	Disease	p.Tyr1847Cys	VAR_012126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012126	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	436	pfam00176	20336209,NP_000480
546	311033500	Disease	p.Asp2035Val	VAR_001238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001238	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	1355	COG0553	20336209,NP_000480
546	311033500	Disease	p.Asp2035Val	VAR_001238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001238	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	58	cd00079	20336209,NP_000480
546	311033500	Disease	p.Ile2050Thr	VAR_012127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012127	- Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]	SWISS	1370	COG0553	20336209,NP_000480
546	311033500	Disease	p.Ile2050Thr	VAR_012127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012127	- Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]	SWISS	94	cd00079	20336209,NP_000480
546	311033500	Disease	p.Tyr2084His	VAR_001239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001239	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	1388	COG0553	20336209,NP_000480
546	311033500	Disease	p.Tyr2084His	VAR_001239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001239	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	11	pfam00271	20336209,NP_000480
546	311033500	Disease	p.Tyr2084His	VAR_001239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001239	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	131	cd00079	20336209,NP_000480
546	311033500	Disease	p.Tyr2084His	VAR_001239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001239	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	38	smart00490	20336209,NP_000480
546	311033500	Disease	p.Arg2131Gln	VAR_001240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001240	- Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]	SWISS	1449	COG0553	20336209,NP_000480
546	311033500	Disease	p.Arg2131Gln	VAR_001240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001240	- Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]	SWISS	108	pfam00271	20336209,NP_000480
546	311033500	Disease	p.Arg2131Gln	VAR_001240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001240	- Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]	SWISS	198	cd00079	20336209,NP_000480
546	311033500	Disease	p.Arg2131Gln	VAR_001240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001240	- Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]	SWISS	315	smart00490	20336209,NP_000480
546	311033500	Disease	p.Tyr2163Cys	VAR_001241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001241	- Alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]	SWISS	1486	COG0553	20336209,NP_000480
546	311033500	Disease	p.Arg2271Gly	VAR_032627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032627	- Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]	SWISS	No Domain	N/A	20336209,NP_000480
549	37076898	Disease	p.Ala240Val	VAR_016911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016911	- 3-methylglutaconic aciduria type 1 (MGA1) [MIM:250950]	SWISS	246	COG1024	4502327,NP_001689
549	37076898	Disease	p.Ala240Val	VAR_016911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016911	- 3-methylglutaconic aciduria type 1 (MGA1) [MIM:250950]	SWISS	157	pfam00378	4502327,NP_001689
549	37076898	Disease	p.Ala240Val	VAR_016911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016911	- 3-methylglutaconic aciduria type 1 (MGA1) [MIM:250950]	SWISS	325	cd06558	4502327,NP_001689
549	37076898	Disease	p.Ala240Val	VAR_016911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016911	- 3-methylglutaconic aciduria type 1 (MGA1) [MIM:250950]	SWISS	221	COG0447	4502327,NP_001689
551	128083	Disease	p.Ser17Phe	VAR_004980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004980	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	No Domain	N/A	13259533,NP_000481
551	128083	Disease	p.Ala19Thr	VAR_004981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004981	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	No Domain	N/A	13259533,NP_000481
551	128083	Disease	p.Ala19Val	VAR_004982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004982	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	No Domain	N/A	13259533,NP_000481
551	128083	Disease	p.Tyr21His	VAR_015262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015262	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	No Domain	N/A	13259533,NP_000481
551	128083	Disease	p.Pro26Leu	VAR_015263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015263	- Autosomal recessive neurohypophyseal diabetes insipidus (ARNDI) [MIM:125700]	SWISS	No Domain	N/A	13259533,NP_000481
551	128083	Disease	p.Gly45Arg	VAR_004983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004983	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	7	pfam00184	13259533,NP_000481
551	128083	Disease	p.Gly45Arg	VAR_004983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004983	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	7	smart00003	13259533,NP_000481
551	128083	Disease	p.Gly48Val	VAR_004984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004984	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	10	pfam00184	13259533,NP_000481
551	128083	Disease	p.Gly48Val	VAR_004984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004984	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	10	smart00003	13259533,NP_000481
551	128083	Disease	p.Arg51Cys	VAR_004985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004985	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	13	pfam00184	13259533,NP_000481
551	128083	Disease	p.Arg51Cys	VAR_004985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004985	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	13	smart00003	13259533,NP_000481
551	128083	Disease	p.Cys52Arg	VAR_015264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015264	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	19	pfam00184	13259533,NP_000481
551	128083	Disease	p.Cys52Arg	VAR_015264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015264	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	14	smart00003	13259533,NP_000481
551	128083	Disease	p.Gly54Arg	VAR_015265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015265	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	21	pfam00184	13259533,NP_000481
551	128083	Disease	p.Gly54Arg	VAR_015265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015265	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	16	smart00003	13259533,NP_000481
551	128083	Disease	p.Gly54Val	VAR_015266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015266	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	21	pfam00184	13259533,NP_000481
551	128083	Disease	p.Gly54Val	VAR_015266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015266	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	16	smart00003	13259533,NP_000481
551	128083	Disease	p.Pro55Leu	VAR_004986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004986	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	22	pfam00184	13259533,NP_000481
551	128083	Disease	p.Pro55Leu	VAR_004986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004986	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	17	smart00003	13259533,NP_000481
551	128083	Disease	p.Cys58Phe	VAR_029997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029997	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	25	pfam00184	13259533,NP_000481
551	128083	Disease	p.Cys58Phe	VAR_029997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029997	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	20	smart00003	13259533,NP_000481
551	128083	Disease	p.Cys59Arg	VAR_015267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015267	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	26	pfam00184	13259533,NP_000481
551	128083	Disease	p.Cys59Arg	VAR_015267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015267	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	21	smart00003	13259533,NP_000481
551	128083	Disease	p.Cys59Tyr	VAR_015268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015268	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	26	pfam00184	13259533,NP_000481
551	128083	Disease	p.Cys59Tyr	VAR_015268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015268	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	21	smart00003	13259533,NP_000481
551	128083	Disease	p.Val67Ala	VAR_019273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019273	rs28934878 Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	40	pfam00184	13259533,NP_000481
551	128083	Disease	p.Val67Ala	VAR_019273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019273	rs28934878 Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	35	smart00003	13259533,NP_000481
551	128083	Disease	p.Glu78Gly	VAR_004988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004988	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	51	pfam00184	13259533,NP_000481
551	128083	Disease	p.Glu78Gly	VAR_004988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004988	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	46	smart00003	13259533,NP_000481
551	128083	Disease	p.Leu81Pro	VAR_004989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004989	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	54	pfam00184	13259533,NP_000481
551	128083	Disease	p.Leu81Pro	VAR_004989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004989	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	49	smart00003	13259533,NP_000481
551	128083	Disease	p.Ser87Phe	VAR_015269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015269	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	62	pfam00184	13259533,NP_000481
551	128083	Disease	p.Ser87Phe	VAR_015269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015269	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	56	smart00003	13259533,NP_000481
551	128083	Disease	p.Gly88Arg	VAR_004990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004990	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	64	pfam00184	13259533,NP_000481
551	128083	Disease	p.Gly88Arg	VAR_004990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004990	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	57	smart00003	13259533,NP_000481
551	128083	Disease	p.Gly88Ser	VAR_004991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004991	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	64	pfam00184	13259533,NP_000481
551	128083	Disease	p.Gly88Ser	VAR_004991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004991	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	57	smart00003	13259533,NP_000481
551	128083	Disease	p.Cys92Ser	VAR_004992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004992	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	68	pfam00184	13259533,NP_000481
551	128083	Disease	p.Cys92Ser	VAR_004992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004992	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	61	smart00003	13259533,NP_000481
551	128083	Disease	p.Cys92Tyr	VAR_015270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015270	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	68	pfam00184	13259533,NP_000481
551	128083	Disease	p.Cys92Tyr	VAR_015270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015270	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	61	smart00003	13259533,NP_000481
551	128083	Disease	p.Gly93Trp	VAR_004993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004993	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	69	pfam00184	13259533,NP_000481
551	128083	Disease	p.Gly93Trp	VAR_004993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004993	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	62	smart00003	13259533,NP_000481
551	128083	Disease	p.Gly96Cys	VAR_004994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004994	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	79	pfam00184	13259533,NP_000481
551	128083	Disease	p.Gly96Cys	VAR_004994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004994	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	67	smart00003	13259533,NP_000481
551	128083	Disease	p.Gly96Asp	VAR_019274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019274	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	79	pfam00184	13259533,NP_000481
551	128083	Disease	p.Gly96Asp	VAR_019274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019274	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	67	smart00003	13259533,NP_000481
551	128083	Disease	p.Gly96Val	VAR_015271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015271	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	79	pfam00184	13259533,NP_000481
551	128083	Disease	p.Gly96Val	VAR_015271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015271	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	67	smart00003	13259533,NP_000481
551	128083	Disease	p.Arg97Cys	VAR_015272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015272	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	80	pfam00184	13259533,NP_000481
551	128083	Disease	p.Arg97Cys	VAR_015272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015272	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	68	smart00003	13259533,NP_000481
551	128083	Disease	p.Arg97Pro	VAR_015273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015273	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	80	pfam00184	13259533,NP_000481
551	128083	Disease	p.Arg97Pro	VAR_015273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015273	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	68	smart00003	13259533,NP_000481
551	128083	Disease	p.Cys98Gly	VAR_015274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015274	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	81	pfam00184	13259533,NP_000481
551	128083	Disease	p.Cys98Gly	VAR_015274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015274	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	69	smart00003	13259533,NP_000481
551	128083	Disease	p.Cys98Ser	VAR_029998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029998	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	81	pfam00184	13259533,NP_000481
551	128083	Disease	p.Cys98Ser	VAR_029998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029998	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	69	smart00003	13259533,NP_000481
551	128083	Disease	p.Ala99Pro	VAR_029999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029999	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	82	pfam00184	13259533,NP_000481
551	128083	Disease	p.Ala99Pro	VAR_029999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029999	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	70	smart00003	13259533,NP_000481
551	128083	Disease	p.Cys104Phe	VAR_015275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015275	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	87	pfam00184	13259533,NP_000481
551	128083	Disease	p.Cys104Phe	VAR_015275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015275	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	75	smart00003	13259533,NP_000481
551	128083	Disease	p.Cys104Gly	VAR_019275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019275	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	87	pfam00184	13259533,NP_000481
551	128083	Disease	p.Cys104Gly	VAR_019275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019275	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	75	smart00003	13259533,NP_000481
551	128083	Disease	p.Cys105Arg	VAR_015276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015276	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	88	pfam00184	13259533,NP_000481
551	128083	Disease	p.Cys105Arg	VAR_015276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015276	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	76	smart00003	13259533,NP_000481
551	128083	Disease	p.Cys105Tyr	VAR_015279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015279	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	88	pfam00184	13259533,NP_000481
551	128083	Disease	p.Cys105Tyr	VAR_015279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015279	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	76	smart00003	13259533,NP_000481
551	128083	Disease	p.Cys116Gly	VAR_015277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015277	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	No Domain	N/A	13259533,NP_000481
551	128083	Disease	p.Cys116Arg	VAR_015278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015278	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	No Domain	N/A	13259533,NP_000481
551	128083	Disease	p.Cys116Trp	VAR_019276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019276	- Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]	SWISS	No Domain	N/A	13259533,NP_000481
554	267256	Disease	p.Leu43Pro	VAR_015297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015297	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	No Domain	N/A	4557345,NP_000045
554	267256	Disease	p.Leu44Pro	VAR_003517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003517	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	No Domain	N/A	4557345,NP_000045
554	267256	Disease	p.Ile46Lys	VAR_015298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015298	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	No Domain	N/A	4557345,NP_000045
554	267256	Disease	p.Leu53Arg	VAR_015299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015299	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	No Domain	N/A	4557345,NP_000045
554	267256	Disease	p.Asn55Asp	VAR_015300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015300	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	No Domain	N/A	4557345,NP_000045
554	267256	Disease	p.Asn55His	VAR_015301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015301	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	No Domain	N/A	4557345,NP_000045
554	267256	Disease	p.Leu59Pro	VAR_015302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015302	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	No Domain	N/A	4557345,NP_000045
554	267256	Disease	p.Leu62Pro	VAR_015304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015304	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	3	pfam00001	4557345,NP_000045
554	267256	Disease	p.His80Arg	VAR_003520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003520	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	23	pfam00001	4557345,NP_000045
554	267256	Disease	p.Leu81Phe	VAR_015305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015305	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	24	pfam00001	4557345,NP_000045
554	267256	Disease	p.Leu83Pro	VAR_015306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015306	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	26	pfam00001	4557345,NP_000045
554	267256	Disease	p.Leu83Gln	VAR_015307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015307	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	26	pfam00001	4557345,NP_000045
554	267256	Disease	p.Ala84Asp	VAR_015308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015308	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	27	pfam00001	4557345,NP_000045
554	267256	Disease	p.Asp85Asn	VAR_015309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015309	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	28	pfam00001	4557345,NP_000045
554	267256	Disease	p.Val88Met	VAR_003521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003521	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	31	pfam00001	4557345,NP_000045
554	267256	Disease	p.Gln92Arg	VAR_015310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015310	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	35	pfam00001	4557345,NP_000045
554	267256	Disease	p.Leu94Gln	VAR_015311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015311	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	37	pfam00001	4557345,NP_000045
554	267256	Disease	p.Pro95Leu	VAR_015312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015312	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	38	pfam00001	4557345,NP_000045
554	267256	Disease	p.Trp99Arg	VAR_015313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015313	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	42	pfam00001	4557345,NP_000045
554	267256	Disease	p.Arg104Cys	VAR_015314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015314	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	57	pfam00001	4557345,NP_000045
554	267256	Disease	p.Phe105Val	VAR_015315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015315	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	58	pfam00001	4557345,NP_000045
554	267256	Disease	p.Arg106Cys	VAR_003522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003522	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	59	pfam00001	4557345,NP_000045
554	267256	Disease	p.Gly107Glu	VAR_015316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015316	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	60	pfam00001	4557345,NP_000045
554	267256	Disease	p.Cys112Arg	VAR_003523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003523	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	67	pfam00001	4557345,NP_000045
554	267256	Disease	p.Cys112Tyr	VAR_015317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015317	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	67	pfam00001	4557345,NP_000045
554	267256	Disease	p.Arg113Trp	VAR_003524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003524	rs28935496 Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	68	pfam00001	4557345,NP_000045
554	267256	Disease	p.Gly122Asp	VAR_062591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062591	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	77	pfam00001	4557345,NP_000045
554	267256	Disease	p.Gly122Arg	VAR_015318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015318	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	77	pfam00001	4557345,NP_000045
554	267256	Disease	p.Met123Lys	VAR_015319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015319	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	78	pfam00001	4557345,NP_000045
554	267256	Disease	p.Ser126Phe	VAR_003525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003525	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	81	pfam00001	4557345,NP_000045
554	267256	Disease	p.Ser127Phe	VAR_015320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015320	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	82	pfam00001	4557345,NP_000045
554	267256	Disease	p.Tyr128Ser	VAR_003526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003526	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	83	pfam00001	4557345,NP_000045
554	267256	Disease	p.Ile130Phe	VAR_015321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015321	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	85	pfam00001	4557345,NP_000045
554	267256	Disease	p.Ala132Asp	VAR_003527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003527	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	87	pfam00001	4557345,NP_000045
554	267256	Disease	p.Leu135Pro	VAR_015322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015322	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	90	pfam00001	4557345,NP_000045
554	267256	Disease	p.Arg137Cys	VAR_025901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025901	- Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539]	SWISS	92	pfam00001	4557345,NP_000045
554	267256	Disease	p.Arg137His	VAR_003528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003528	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	92	pfam00001	4557345,NP_000045
554	267256	Disease	p.Arg137Leu	VAR_025902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025902	- Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539]	SWISS	92	pfam00001	4557345,NP_000045
554	267256	Disease	p.Arg143Pro	VAR_003529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003529	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	98	pfam00001	4557345,NP_000045
554	267256	Disease	p.Ala163Pro	VAR_015324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015324	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	120	pfam00001	4557345,NP_000045
554	267256	Disease	p.Trp164Ser	VAR_003531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003531	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	121	pfam00001	4557345,NP_000045
554	267256	Disease	p.Ser167Leu	VAR_003532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003532	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	124	pfam00001	4557345,NP_000045
554	267256	Disease	p.Ser167Thr	VAR_003533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003533	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	124	pfam00001	4557345,NP_000045
554	267256	Disease	p.Pro173Ser	VAR_015325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015325	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	130	pfam00001	4557345,NP_000045
554	267256	Disease	p.Gln174Leu	VAR_015326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015326	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	131	pfam00001	4557345,NP_000045
554	267256	Disease	p.Arg181Cys	VAR_003534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003534	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	138	pfam00001	4557345,NP_000045
554	267256	Disease	p.Gly185Cys	VAR_003535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003535	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	142	pfam00001	4557345,NP_000045
554	267256	Disease	p.Asp191Gly	VAR_015327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015327	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	158	pfam00001	4557345,NP_000045
554	267256	Disease	p.Gly201Asp	VAR_015328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015328	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	169	pfam00001	4557345,NP_000045
554	267256	Disease	p.Arg202Cys	VAR_003536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003536	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	170	pfam00001	4557345,NP_000045
554	267256	Disease	p.Arg203Cys	VAR_003537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003537	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	178	pfam00001	4557345,NP_000045
554	267256	Disease	p.Thr204Asn	VAR_015329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015329	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	179	pfam00001	4557345,NP_000045
554	267256	Disease	p.Tyr205Cys	VAR_003538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003538	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	180	pfam00001	4557345,NP_000045
554	267256	Disease	p.Val206Asp	VAR_015330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015330	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	181	pfam00001	4557345,NP_000045
554	267256	Disease	p.Thr207Asn	VAR_015331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015331	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	182	pfam00001	4557345,NP_000045
554	267256	Disease	p.Ile209Phe	VAR_015332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015332	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	184	pfam00001	4557345,NP_000045
554	267256	Disease	p.Phe214Ser	VAR_015333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015333	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	189	pfam00001	4557345,NP_000045
554	267256	Disease	p.Pro217Thr	VAR_015335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015335	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	193	pfam00001	4557345,NP_000045
554	267256	Disease	p.Leu219Pro	VAR_015336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015336	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	195	pfam00001	4557345,NP_000045
554	267256	Disease	p.Leu219Arg	VAR_015337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015337	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	195	pfam00001	4557345,NP_000045
554	267256	Disease	p.Met272Lys	VAR_015339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015339	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	367	pfam00001	4557345,NP_000045
554	267256	Disease	p.Val277Ala	VAR_015340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015340	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	372	pfam00001	4557345,NP_000045
554	267256	Disease	p.Tyr280Cys	VAR_003541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003541	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	375	pfam00001	4557345,NP_000045
554	267256	Disease	p.Leu282Pro	VAR_015341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015341	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	377	pfam00001	4557345,NP_000045
554	267256	Disease	p.Pro286Leu	VAR_003543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003543	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	381	pfam00001	4557345,NP_000045
554	267256	Disease	p.Pro286Arg	VAR_003544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003544	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	381	pfam00001	4557345,NP_000045
554	267256	Disease	p.Pro286Ser	VAR_015342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015342	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	381	pfam00001	4557345,NP_000045
554	267256	Disease	p.Phe287Leu	VAR_015343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015343	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	382	pfam00001	4557345,NP_000045
554	267256	Disease	p.Leu289Pro	VAR_015344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015344	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	384	pfam00001	4557345,NP_000045
554	267256	Disease	p.Leu292Pro	VAR_003545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003545	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	387	pfam00001	4557345,NP_000045
554	267256	Disease	p.Ala294Pro	VAR_015345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015345	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	389	pfam00001	4557345,NP_000045
554	267256	Disease	p.Leu309Pro	VAR_003546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003546	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	414	pfam00001	4557345,NP_000045
554	267256	Disease	p.Leu309Arg	VAR_015346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015346	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	414	pfam00001	4557345,NP_000045
554	267256	Disease	p.Ser315Arg	VAR_015347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015347	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	420	pfam00001	4557345,NP_000045
554	267256	Disease	p.Asn317Lys	VAR_003547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003547	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	422	pfam00001	4557345,NP_000045
554	267256	Disease	p.Cys319Arg	VAR_015349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015349	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	424	pfam00001	4557345,NP_000045
554	267256	Disease	p.Asn321Asp	VAR_015350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015350	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	426	pfam00001	4557345,NP_000045
554	267256	Disease	p.Asn321Lys	VAR_015351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015351	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	426	pfam00001	4557345,NP_000045
554	267256	Disease	p.Asn321Tyr	VAR_015352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015352	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	426	pfam00001	4557345,NP_000045
554	267256	Disease	p.Pro322His	VAR_015353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015353	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	427	pfam00001	4557345,NP_000045
554	267256	Disease	p.Pro322Ser	VAR_015354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015354	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	427	pfam00001	4557345,NP_000045
554	267256	Disease	p.Trp323Arg	VAR_015355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015355	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	428	pfam00001	4557345,NP_000045
554	267256	Disease	p.Trp323Ser	VAR_003548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003548	- Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]	SWISS	428	pfam00001	4557345,NP_000045
567	48428791	Disease	p.Ala11Pro	VAR_030660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030660	- Hypercatabolic hypoproteinemia [MIM:241600]	SWISS	No Domain	N/A	4757826,NP_004039
11285	13123990	Disease	p.Ala186Asp	VAR_010293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010293	- Ehlers-Danlos syndrome progeroid type (EDSP) [MIM:130070]	SWISS	126	cd00899	6005952,NP_009186
11285	13123990	Disease	p.Ala186Asp	VAR_010293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010293	- Ehlers-Danlos syndrome progeroid type (EDSP) [MIM:130070]	SWISS	150	pfam02709	6005952,NP_009186
11285	13123990	Disease	p.Leu206Pro	VAR_010294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010294	- Ehlers-Danlos syndrome progeroid type (EDSP) [MIM:130070]	SWISS	152	cd00899	6005952,NP_009186
11285	13123990	Disease	p.Leu206Pro	VAR_010294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010294	- Ehlers-Danlos syndrome progeroid type (EDSP) [MIM:130070]	SWISS	170	pfam02709	6005952,NP_009186
570	74739811	Disease	p.Met76Val	VAR_023737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023737	rs28937579 Familial hypercholanemia (FHCA) [MIM:607748]	SWISS	81	pfam04775	189083866,NP_001121082|4502351,NP_001692
9531	12643665	Disease	p.Pro209Leu	VAR_063089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063089	- Myopathy myofibrillar BAG3-related (MFM-BAG3) [MIM:612954]	SWISS	No Domain	N/A	14043024,NP_004272
582	38257662	Disease	p.His35Arg	VAR_038880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038880	- Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]	SWISS	No Domain	N/A	28395045,NP_078925
582	38257662	Disease	p.Lys53Glu	VAR_038881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038881	- Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]	SWISS	No Domain	N/A	28395045,NP_078925
582	38257662	Disease	p.Asp148Asn	VAR_038882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038882	- Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]	SWISS	No Domain	N/A	28395045,NP_078925
582	38257662	Disease	p.Arg160Gln	VAR_038883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038883	- Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]	SWISS	No Domain	N/A	28395045,NP_078925
582	38257662	Disease	p.Glu234Lys	VAR_017215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017215	rs35520756 Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]	SWISS	No Domain	N/A	28395045,NP_078925
582	38257662	Disease	p.Gly305Ser	VAR_038884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038884	- Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]	SWISS	No Domain	N/A	28395045,NP_078925
582	38257662	Disease	p.Met390Arg	VAR_017216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017216	- Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]	SWISS	No Domain	N/A	28395045,NP_078925
582	38257662	Disease	p.Tyr434Ser	VAR_038886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038886	- Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]	SWISS	No Domain	N/A	28395045,NP_078925
582	38257662	Disease	p.Leu503His	VAR_038887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038887	- Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]	SWISS	No Domain	N/A	28395045,NP_078925
582	38257662	Disease	p.Leu518Pro	VAR_017217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017217	- Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]	SWISS	No Domain	N/A	28395045,NP_078925
582	38257662	Disease	p.Leu518Gln	VAR_038888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038888	- Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]	SWISS	No Domain	N/A	28395045,NP_078925
79738	97043964	Disease	p.Arg34Pro	VAR_026391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026391	- Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]	SWISS	20	pfam00118	100816407,NP_078961
79738	97043964	Disease	p.Arg49Trp	VAR_026392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026392	- Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]	SWISS	43	pfam00118	100816407,NP_078961
79738	97043964	Disease	p.Cys91Trp	VAR_026393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026393	- Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]	SWISS	90	pfam00118	100816407,NP_078961
79738	97043964	Disease	p.Leu170Ser	VAR_026394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026394	- Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]	SWISS	156	pfam00118	100816407,NP_078961
79738	97043964	Disease	p.Cys195Trp	VAR_026395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026395	- Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]	SWISS	205	pfam00118	100816407,NP_078961
79738	97043964	Disease	p.Tyr197Cys	VAR_026396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026396	- Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]	SWISS	207	pfam00118	100816407,NP_078961
79738	97043964	Disease	p.Val240Gly	VAR_026397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026397	- Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]	SWISS	279	pfam00118	100816407,NP_078961
79738	97043964	Disease	p.Leu308Phe	VAR_026398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026398	- Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]	SWISS	380	pfam00118	100816407,NP_078961
79738	97043964	Disease	p.Ser311Ala	VAR_026399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026399	- Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]	SWISS	406	pfam00118	100816407,NP_078961
79738	97043964	Disease	p.Ser329Leu	VAR_026400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026400	- Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]	SWISS	429	pfam00118	100816407,NP_078961
79738	97043964	Disease	p.Pro363Leu	VAR_026401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026401	- Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]	SWISS	498	pfam00118	100816407,NP_078961
79738	97043964	Disease	p.Leu414Ser	VAR_026403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026403	- Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]	SWISS	607	pfam00118	100816407,NP_078961
79738	97043964	Disease	p.Lys579Arg	VAR_026404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026404	- Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]	SWISS	No Domain	N/A	100816407,NP_078961
79738	97043964	Disease	p.Tyr613Cys	VAR_026405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026405	- Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]	SWISS	No Domain	N/A	100816407,NP_078961
79738	97043964	Disease	p.Tyr613His	VAR_026406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026406	- Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]	SWISS	No Domain	N/A	100816407,NP_078961
79738	97043964	Disease	p.Gly677Val	VAR_026407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026407	- Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]	SWISS	No Domain	N/A	100816407,NP_078961
79738	97043964	Disease	p.Thr689Pro	VAR_026408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026408	- Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]	SWISS	No Domain	N/A	100816407,NP_078961
166379	296434408	Disease	p.Pro159Leu	VAR_034922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034922	- Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]	SWISS	No Domain	N/A	295821198,NP_001171478|40217788,NP_689831
166379	296434408	Disease	p.Ala289Pro	VAR_034926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034926	- Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]	SWISS	No Domain	N/A	295821198,NP_001171478|40217788,NP_689831
166379	296434408	Disease	p.Ile346Thr	VAR_062964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062964	- Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]	SWISS	No Domain	N/A	295821198,NP_001171478|40217788,NP_689831
166379	296434408	Disease	p.Thr501Met	VAR_062965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062965	- Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]	SWISS	No Domain	N/A	295821198,NP_001171478|40217788,NP_689831
166379	296434408	Disease	p.Gly540Val	VAR_034932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034932	- Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]	SWISS	No Domain	N/A	295821198,NP_001171478|40217788,NP_689831
583	20454827	Disease	p.Arg23Pro	VAR_038889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038889	- Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]	SWISS	No Domain	N/A	219842319,NP_114091
583	20454827	Disease	p.Asn70Ser	VAR_013162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013162	rs4784677 Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]	SWISS	No Domain	N/A	219842319,NP_114091
583	20454827	Disease	p.Val75Gly	VAR_013163	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013163	- Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]	SWISS	No Domain	N/A	219842319,NP_114091
583	20454827	Disease	p.Asp104Ala	VAR_013164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013164	- Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]	SWISS	No Domain	N/A	219842319,NP_114091
583	20454827	Disease	p.Asp174Glu	VAR_038890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038890	- Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]	SWISS	15	pfam01839	219842319,NP_114091
583	20454827	Disease	p.Arg315Gln	VAR_013166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013166	- Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]	SWISS	No Domain	N/A	219842319,NP_114091
583	20454827	Disease	p.Arg315Trp	VAR_013167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013167	- Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]	SWISS	No Domain	N/A	219842319,NP_114091
583	20454827	Disease	p.Leu349Trp	VAR_038891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038891	- Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]	SWISS	No Domain	N/A	219842319,NP_114091
583	20454827	Disease	p.Thr558Ile	VAR_013168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013168	- Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]	SWISS	No Domain	N/A	219842319,NP_114091
583	20454827	Disease	p.Arg632Pro	VAR_013169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013169	- Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]	SWISS	No Domain	N/A	219842319,NP_114091
583	20454827	Disease	p.Arg643His	VAR_038892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038892	- Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]	SWISS	No Domain	N/A	219842319,NP_114091
585	160359000	Disease	p.Asn165His	VAR_017049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017049	- Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]	SWISS	120	cd00189	25952122,NP_149017
585	160359000	Disease	p.Asn165His	VAR_017049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017049	- Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]	SWISS	32	pfam07719	25952122,NP_149017
585	160359000	Disease	p.Asn165His	VAR_017049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017049	- Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]	SWISS	254	COG0457	25952122,NP_149017
585	160359000	Disease	p.Arg295Pro	VAR_013170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013170	- Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]	SWISS	177	cd00189	25952122,NP_149017
585	160359000	Disease	p.Arg295Pro	VAR_013170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013170	- Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]	SWISS	692	COG0457	25952122,NP_149017
585	160359000	Disease	p.Arg295Pro	VAR_013170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013170	- Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]	SWISS	26	pfam00515	25952122,NP_149017
585	160359000	Disease	p.Leu327Pro	VAR_017050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017050	- Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]	SWISS	25	smart00028	25952122,NP_149017
585	160359000	Disease	p.Leu327Pro	VAR_017050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017050	- Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]	SWISS	31	cd00189	25952122,NP_149017
585	160359000	Disease	p.Leu327Pro	VAR_017050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017050	- Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]	SWISS	811	COG0457	25952122,NP_149017
585	160359000	Disease	p.Leu351Arg	VAR_038895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038895	- Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]	SWISS	75	cd00189	25952122,NP_149017
585	160359000	Disease	p.Leu351Arg	VAR_038895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038895	- Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]	SWISS	916	COG0457	25952122,NP_149017
585	160359000	Disease	p.Ala364Glu	VAR_017051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017051	- Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]	SWISS	116	cd00189	25952122,NP_149017
585	160359000	Disease	p.Ala364Glu	VAR_017051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017051	- Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]	SWISS	972	COG0457	25952122,NP_149017
585	160359000	Disease	p.Asp368Gly	VAR_038896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038896	- Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]	SWISS	120	cd00189	25952122,NP_149017
585	160359000	Disease	p.Ser457Ile	VAR_017052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017052	- Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]	SWISS	No Domain	N/A	25952122,NP_149017
585	160359000	Disease	p.Met472Val	VAR_017053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017053	rs2277596 Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]	SWISS	No Domain	N/A	25952122,NP_149017
585	160359000	Disease	p.Pro503Leu	VAR_038897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038897	- Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]	SWISS	No Domain	N/A	25952122,NP_149017
129880	74750959	Disease	p.Asn184Ser	VAR_025316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025316	- Bardet-Biedl syndrome type 5 (BBS5) [MIM:209900]	SWISS	27	smart00683	22748823,NP_689597
129880	74750959	Disease	p.Asn184Ser	VAR_025316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025316	- Bardet-Biedl syndrome type 5 (BBS5) [MIM:209900]	SWISS	227	pfam07289	22748823,NP_689597
129880	74750959	Disease	p.Arg207His	VAR_025317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025317	rs35487251 Bardet-Biedl syndrome type 5 (BBS5) [MIM:209900]	SWISS	50	smart00683	22748823,NP_689597
129880	74750959	Disease	p.Arg207His	VAR_025317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025317	rs35487251 Bardet-Biedl syndrome type 5 (BBS5) [MIM:209900]	SWISS	250	pfam07289	22748823,NP_689597
55212	90110978	Disease	p.Ile66Phe	VAR_038893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038893	- Bardet-Biedl syndrome type 7 (BBS7) [MIM:209900]	SWISS	No Domain	N/A	29029557,NP_789794
55212	90110978	Disease	p.Thr211Ile	VAR_017212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017212	- Bardet-Biedl syndrome type 7 (BBS7) [MIM:209900]	SWISS	No Domain	N/A	29029557,NP_789794
55212	90110978	Disease	p.His323Arg	VAR_017213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017213	- Bardet-Biedl syndrome type 7 (BBS7) [MIM:209900]	SWISS	No Domain	N/A	29029557,NP_789794
27241	97180305	Disease	p.Gly141Arg	VAR_026389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026389	- Bardet-Biedl syndrome type 9 (BBS9) [MIM:209900]	SWISS	No Domain	N/A	38569434,NP_940820
590	116353	Disease	p.Thr52Met	VAR_040012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040012	rs56309853 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	23	cd00312	4557351,NP_000046
590	116353	Disease	p.Thr52Met	VAR_040012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040012	rs56309853 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	36	COG2272	4557351,NP_000046
590	116353	Disease	p.Thr52Met	VAR_040012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040012	rs56309853 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	55	pfam00135	4557351,NP_000046
590	116353	Disease	p.Phe56Ile	VAR_040013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040013	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	27	cd00312	4557351,NP_000046
590	116353	Disease	p.Phe56Ile	VAR_040013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040013	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	40	COG2272	4557351,NP_000046
590	116353	Disease	p.Phe56Ile	VAR_040013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040013	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	59	pfam00135	4557351,NP_000046
590	116353	Disease	p.Tyr61Cys	VAR_040014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040014	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	32	cd00312	4557351,NP_000046
590	116353	Disease	p.Tyr61Cys	VAR_040014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040014	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	45	COG2272	4557351,NP_000046
590	116353	Disease	p.Tyr61Cys	VAR_040014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040014	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	64	pfam00135	4557351,NP_000046
590	116353	Disease	p.Pro65Ser	VAR_040015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040015	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	36	cd00312	4557351,NP_000046
590	116353	Disease	p.Pro65Ser	VAR_040015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040015	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	49	COG2272	4557351,NP_000046
590	116353	Disease	p.Pro65Ser	VAR_040015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040015	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	68	pfam00135	4557351,NP_000046
590	116353	Disease	p.Asp98Gly	VAR_002360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002360	rs1799807 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	73	cd00312	4557351,NP_000046
590	116353	Disease	p.Asp98Gly	VAR_002360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002360	rs1799807 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	83	COG2272	4557351,NP_000046
590	116353	Disease	p.Asp98Gly	VAR_002360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002360	rs1799807 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	111	pfam00135	4557351,NP_000046
590	116353	Disease	p.Asp98His	VAR_040016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040016	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	73	cd00312	4557351,NP_000046
590	116353	Disease	p.Asp98His	VAR_040016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040016	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	83	COG2272	4557351,NP_000046
590	116353	Disease	p.Asp98His	VAR_040016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040016	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	111	pfam00135	4557351,NP_000046
590	116353	Disease	p.Asn124Tyr	VAR_040017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040017	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	116	cd00312	4557351,NP_000046
590	116353	Disease	p.Asn124Tyr	VAR_040017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040017	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	106	COG2272	4557351,NP_000046
590	116353	Disease	p.Asn124Tyr	VAR_040017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040017	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	172	pfam00135	4557351,NP_000046
590	116353	Disease	p.Pro128Ser	VAR_040018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040018	rs3732880 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	120	cd00312	4557351,NP_000046
590	116353	Disease	p.Pro128Ser	VAR_040018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040018	rs3732880 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	110	COG2272	4557351,NP_000046
590	116353	Disease	p.Pro128Ser	VAR_040018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040018	rs3732880 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	176	pfam00135	4557351,NP_000046
590	116353	Disease	p.Gly143Asp	VAR_040019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040019	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	142	cd00312	4557351,NP_000046
590	116353	Disease	p.Gly143Asp	VAR_040019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040019	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	133	COG2272	4557351,NP_000046
590	116353	Disease	p.Gly143Asp	VAR_040019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040019	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	235	pfam00135	4557351,NP_000046
590	116353	Disease	p.Leu153Phe	VAR_040020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040020	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	152	cd00312	4557351,NP_000046
590	116353	Disease	p.Leu153Phe	VAR_040020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040020	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	143	COG2272	4557351,NP_000046
590	116353	Disease	p.Leu153Phe	VAR_040020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040020	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	261	pfam00135	4557351,NP_000046
590	116353	Disease	p.Tyr156Cys	VAR_040021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040021	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	162	cd00312	4557351,NP_000046
590	116353	Disease	p.Tyr156Cys	VAR_040021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040021	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	147	COG2272	4557351,NP_000046
590	116353	Disease	p.Tyr156Cys	VAR_040021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040021	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	264	pfam00135	4557351,NP_000046
590	116353	Disease	p.Val170Met	VAR_040022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040022	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	180	cd00312	4557351,NP_000046
590	116353	Disease	p.Val170Met	VAR_040022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040022	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	164	COG2272	4557351,NP_000046
590	116353	Disease	p.Val170Met	VAR_040022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040022	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	278	pfam00135	4557351,NP_000046
590	116353	Disease	p.Asp198Glu	VAR_040023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040023	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	213	cd00312	4557351,NP_000046
590	116353	Disease	p.Asp198Glu	VAR_040023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040023	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	197	COG2272	4557351,NP_000046
590	116353	Disease	p.Asp198Glu	VAR_040023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040023	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	329	pfam00135	4557351,NP_000046
590	116353	Disease	p.Ser226Gly	VAR_040024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040024	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	241	cd00312	4557351,NP_000046
590	116353	Disease	p.Ser226Gly	VAR_040024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040024	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	225	COG2272	4557351,NP_000046
590	116353	Disease	p.Ser226Gly	VAR_040024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040024	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	357	pfam00135	4557351,NP_000046
590	116353	Disease	p.Ala227Val	VAR_040025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040025	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	242	cd00312	4557351,NP_000046
590	116353	Disease	p.Ala227Val	VAR_040025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040025	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	226	COG2272	4557351,NP_000046
590	116353	Disease	p.Ala227Val	VAR_040025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040025	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	358	pfam00135	4557351,NP_000046
590	116353	Disease	p.Ala229Thr	VAR_040026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040026	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	244	cd00312	4557351,NP_000046
590	116353	Disease	p.Ala229Thr	VAR_040026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040026	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	228	COG2272	4557351,NP_000046
590	116353	Disease	p.Ala229Thr	VAR_040026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040026	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	360	pfam00135	4557351,NP_000046
590	116353	Disease	p.Thr271Met	VAR_040027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040027	rs28933389 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	292	cd00312	4557351,NP_000046
590	116353	Disease	p.Thr271Met	VAR_040027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040027	rs28933389 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	274	COG2272	4557351,NP_000046
590	116353	Disease	p.Thr271Met	VAR_040027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040027	rs28933389 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	414	pfam00135	4557351,NP_000046
590	116353	Disease	p.Thr278Pro	VAR_040028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040028	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	299	cd00312	4557351,NP_000046
590	116353	Disease	p.Thr278Pro	VAR_040028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040028	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	281	COG2272	4557351,NP_000046
590	116353	Disease	p.Thr278Pro	VAR_040028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040028	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	421	pfam00135	4557351,NP_000046
590	116353	Disease	p.Lys295Arg	VAR_040030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040030	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	321	cd00312	4557351,NP_000046
590	116353	Disease	p.Lys295Arg	VAR_040030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040030	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	299	COG2272	4557351,NP_000046
590	116353	Disease	p.Lys295Arg	VAR_040030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040030	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	475	pfam00135	4557351,NP_000046
590	116353	Disease	p.Leu335Pro	VAR_040031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040031	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	378	cd00312	4557351,NP_000046
590	116353	Disease	p.Leu335Pro	VAR_040031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040031	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	344	COG2272	4557351,NP_000046
590	116353	Disease	p.Leu335Pro	VAR_040031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040031	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	569	pfam00135	4557351,NP_000046
590	116353	Disease	p.Ala356Asp	VAR_040032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040032	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	400	cd00312	4557351,NP_000046
590	116353	Disease	p.Ala356Asp	VAR_040032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040032	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	365	COG2272	4557351,NP_000046
590	116353	Disease	p.Ala356Asp	VAR_040032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040032	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	595	pfam00135	4557351,NP_000046
590	116353	Disease	p.Leu358Ile	VAR_002362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002362	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	402	cd00312	4557351,NP_000046
590	116353	Disease	p.Leu358Ile	VAR_002362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002362	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	367	COG2272	4557351,NP_000046
590	116353	Disease	p.Leu358Ile	VAR_002362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002362	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	597	pfam00135	4557351,NP_000046
590	116353	Disease	p.Gly393Arg	VAR_040033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040033	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	451	cd00312	4557351,NP_000046
590	116353	Disease	p.Gly393Arg	VAR_040033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040033	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	393	COG2272	4557351,NP_000046
590	116353	Disease	p.Gly393Arg	VAR_040033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040033	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	669	pfam00135	4557351,NP_000046
590	116353	Disease	p.Arg414Cys	VAR_040034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040034	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	481	cd00312	4557351,NP_000046
590	116353	Disease	p.Arg414Cys	VAR_040034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040034	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	416	COG2272	4557351,NP_000046
590	116353	Disease	p.Arg414Cys	VAR_040034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040034	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	701	pfam00135	4557351,NP_000046
590	116353	Disease	p.Gly418Val	VAR_040035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040035	rs28933390 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	485	cd00312	4557351,NP_000046
590	116353	Disease	p.Gly418Val	VAR_040035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040035	rs28933390 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	420	COG2272	4557351,NP_000046
590	116353	Disease	p.Gly418Val	VAR_040035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040035	rs28933390 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	705	pfam00135	4557351,NP_000046
590	116353	Disease	p.Phe446Ser	VAR_040036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040036	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	516	cd00312	4557351,NP_000046
590	116353	Disease	p.Phe446Ser	VAR_040036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040036	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	451	COG2272	4557351,NP_000046
590	116353	Disease	p.Phe446Ser	VAR_040036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040036	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	735	pfam00135	4557351,NP_000046
590	116353	Disease	p.Glu488Lys	VAR_040037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040037	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	572	cd00312	4557351,NP_000046
590	116353	Disease	p.Glu488Lys	VAR_040037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040037	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	502	COG2272	4557351,NP_000046
590	116353	Disease	p.Glu488Lys	VAR_040037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040037	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	810	pfam00135	4557351,NP_000046
590	116353	Disease	p.Trp499Arg	VAR_040038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040038	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	583	cd00312	4557351,NP_000046
590	116353	Disease	p.Trp499Arg	VAR_040038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040038	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	520	COG2272	4557351,NP_000046
590	116353	Disease	p.Trp499Arg	VAR_040038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040038	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	822	pfam00135	4557351,NP_000046
590	116353	Disease	p.Phe502Leu	VAR_040039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040039	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	586	cd00312	4557351,NP_000046
590	116353	Disease	p.Phe502Leu	VAR_040039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040039	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	523	COG2272	4557351,NP_000046
590	116353	Disease	p.Phe502Leu	VAR_040039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040039	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	825	pfam00135	4557351,NP_000046
590	116353	Disease	p.Glu525Val	VAR_040040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040040	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	615	cd00312	4557351,NP_000046
590	116353	Disease	p.Glu525Val	VAR_040040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040040	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	547	COG2272	4557351,NP_000046
590	116353	Disease	p.Glu525Val	VAR_040040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040040	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	864	pfam00135	4557351,NP_000046
590	116353	Disease	p.Arg543Cys	VAR_040041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040041	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	569	COG2272	4557351,NP_000046
590	116353	Disease	p.Arg543Cys	VAR_040041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040041	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	903	pfam00135	4557351,NP_000046
590	116353	Disease	p.Gln546Leu	VAR_040042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040042	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	572	COG2272	4557351,NP_000046
590	116353	Disease	p.Gln546Leu	VAR_040042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_040042	- Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	914	pfam00135	4557351,NP_000046
590	116353	Disease	p.Ala567Thr	VAR_002364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002364	rs1803274 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]	SWISS	3	pfam08674	4557351,NP_000046
593	548403	Disease	p.Arg159Trp	VAR_004968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004968	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	39	cd02012	11386135,NP_000700
593	548403	Disease	p.Arg159Trp	VAR_004968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004968	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	57	pfam00676	11386135,NP_000700
593	548403	Disease	p.Arg159Trp	VAR_004968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004968	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	32	cd00568	11386135,NP_000700
593	548403	Disease	p.Arg159Trp	VAR_004968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004968	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	97	COG1071	11386135,NP_000700
593	548403	Disease	p.Arg159Trp	VAR_004968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004968	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	79	cd02000	11386135,NP_000700
593	548403	Disease	p.Gln190Lys	VAR_004969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004969	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	100	cd02012	11386135,NP_000700
593	548403	Disease	p.Gln190Lys	VAR_004969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004969	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	95	pfam00676	11386135,NP_000700
593	548403	Disease	p.Gln190Lys	VAR_004969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004969	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	79	cd00568	11386135,NP_000700
593	548403	Disease	p.Gln190Lys	VAR_004969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004969	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	150	COG1071	11386135,NP_000700
593	548403	Disease	p.Gln190Lys	VAR_004969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004969	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	154	cd02000	11386135,NP_000700
593	548403	Disease	p.Ala253Thr	VAR_004970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004970	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	185	cd02012	11386135,NP_000700
593	548403	Disease	p.Ala253Thr	VAR_004970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004970	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	174	pfam00676	11386135,NP_000700
593	548403	Disease	p.Ala253Thr	VAR_004970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004970	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	210	cd00568	11386135,NP_000700
593	548403	Disease	p.Ala253Thr	VAR_004970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004970	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	224	COG1071	11386135,NP_000700
593	548403	Disease	p.Ala253Thr	VAR_004970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004970	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	268	cd02000	11386135,NP_000700
593	548403	Disease	p.Gly290Arg	VAR_015101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015101	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	233	cd02012	11386135,NP_000700
593	548403	Disease	p.Gly290Arg	VAR_015101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015101	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	215	pfam00676	11386135,NP_000700
593	548403	Disease	p.Gly290Arg	VAR_015101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015101	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	296	cd00568	11386135,NP_000700
593	548403	Disease	p.Gly290Arg	VAR_015101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015101	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	269	COG1071	11386135,NP_000700
593	548403	Disease	p.Gly290Arg	VAR_015101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015101	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	324	cd02000	11386135,NP_000700
593	548403	Disease	p.Ile326Thr	VAR_004971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004971	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	281	cd02012	11386135,NP_000700
593	548403	Disease	p.Ile326Thr	VAR_004971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004971	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	251	pfam00676	11386135,NP_000700
593	548403	Disease	p.Ile326Thr	VAR_004971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004971	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	412	cd00568	11386135,NP_000700
593	548403	Disease	p.Ile326Thr	VAR_004971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004971	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	310	COG1071	11386135,NP_000700
593	548403	Disease	p.Ile326Thr	VAR_004971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004971	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	382	cd02000	11386135,NP_000700
593	548403	Disease	p.Phe409Cys	VAR_015102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015102	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	414	COG1071	11386135,NP_000700
593	548403	Disease	p.Tyr413Cys	VAR_004972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004972	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	418	COG1071	11386135,NP_000700
593	548403	Disease	p.Tyr438Asn	VAR_004973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004973	- Maple syrup urine disease type IA (MSUD1A) [MIM:248600]	SWISS	No Domain	N/A	11386135,NP_000700
594	129034	Disease	p.Arg183Pro	VAR_024851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024851	rs28934895 Maple syrup urine disease type IB (MSUD1B) [MIM:248600]	SWISS	110_G	COG3958	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Arg183Pro	VAR_024851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024851	rs28934895 Maple syrup urine disease type IB (MSUD1B) [MIM:248600]	SWISS	152	pfam02779	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Arg183Pro	VAR_024851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024851	rs28934895 Maple syrup urine disease type IB (MSUD1B) [MIM:248600]	SWISS	524	smart00861	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Arg183Pro	VAR_024851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024851	rs28934895 Maple syrup urine disease type IB (MSUD1B) [MIM:248600]	SWISS	140	cd07033	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Arg183Pro	VAR_024851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024851	rs28934895 Maple syrup urine disease type IB (MSUD1B) [MIM:248600]	SWISS	120	cd06586	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Arg183Pro	VAR_024851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024851	rs28934895 Maple syrup urine disease type IB (MSUD1B) [MIM:248600]	SWISS	126	cd07036	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Arg183Pro	VAR_024851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024851	rs28934895 Maple syrup urine disease type IB (MSUD1B) [MIM:248600]	SWISS	127	COG0022	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His206Arg	VAR_004974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004974	- Maple syrup urine disease type IB (MSUD1B) [MIM:248600]	SWISS	132	COG3958	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His206Arg	VAR_004974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004974	- Maple syrup urine disease type IB (MSUD1B) [MIM:248600]	SWISS	175	pfam02779	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His206Arg	VAR_004974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004974	- Maple syrup urine disease type IB (MSUD1B) [MIM:248600]	SWISS	590	smart00861	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His206Arg	VAR_004974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004974	- Maple syrup urine disease type IB (MSUD1B) [MIM:248600]	SWISS	168	cd07033	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His206Arg	VAR_004974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004974	- Maple syrup urine disease type IB (MSUD1B) [MIM:248600]	SWISS	152	cd06586	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His206Arg	VAR_004974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004974	- Maple syrup urine disease type IB (MSUD1B) [MIM:248600]	SWISS	153	cd07036	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.His206Arg	VAR_004974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004974	- Maple syrup urine disease type IB (MSUD1B) [MIM:248600]	SWISS	151	COG0022	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Gly278Ser	VAR_024852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024852	- Maple syrup urine disease type IB (MSUD1B) [MIM:248600]	SWISS	205	COG3958	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Gly278Ser	VAR_024852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024852	- Maple syrup urine disease type IB (MSUD1B) [MIM:248600]	SWISS	21	pfam02780	4557353,NP_000047|34101272,NP_898871
594	129034	Disease	p.Gly278Ser	VAR_024852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024852	- Maple syrup urine disease type IB (MSUD1B) [MIM:248600]	SWISS	243	COG0022	4557353,NP_000047|34101272,NP_898871
53630	41688803	Disease	p.Thr170Met	VAR_058112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058112	- Autosomal dominant hypercarotenemia and vitamin A deficiency (ADHVAD) [MIM:115300]	SWISS	204	COG3670	74027270,NP_059125
53630	41688803	Disease	p.Thr170Met	VAR_058112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058112	- Autosomal dominant hypercarotenemia and vitamin A deficiency (ADHVAD) [MIM:115300]	SWISS	567	pfam03055	74027270,NP_059125
54880	57012588	Disease	p.Pro85Leu	VAR_020921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020921	rs28935183 Microphthalmia syndromic type 2 (MCOPS2) [MIM:300166]	SWISS	No Domain	N/A	183396787,NP_001116857
617	46397351	Disease	p.Gly35Arg	VAR_032086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032086	- Bjoernstad syndrome (BJS) [MIM:262000]	SWISS	18	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Arg45Cys	VAR_032087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032087	- Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]	SWISS	34	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Ser78Gly	VAR_018149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018149	rs28937590 GRACILE syndrome [MIM:603358]	SWISS	209	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Pro99Leu	VAR_018159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018159	- Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]	SWISS	276	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Arg114Trp	VAR_032088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032088	- Bjoernstad syndrome (BJS) [MIM:262000]	SWISS	296	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Arg144Gln	VAR_018160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018160	- GRACILE syndrome [MIM:603358]	SWISS	364	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Arg155Pro	VAR_018161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018161	- Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]	SWISS	375	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Arg183His	VAR_032089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032089	- Bjoernstad syndrome (BJS) [MIM:262000]	SWISS	424	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Arg184Cys	VAR_032090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032090	- Bjoernstad syndrome (BJS) [MIM:262000]	SWISS	425	pfam08740	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Ser277Asn	VAR_018162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018162	- Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]	SWISS	367	cd00009	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Ser277Asn	VAR_018162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018162	- Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]	SWISS	132	pfam00004	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Ser277Asn	VAR_018162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018162	- Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]	SWISS	307	smart00382	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Gln302Glu	VAR_032091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032091	- Bjoernstad syndrome (BJS) [MIM:262000]	SWISS	400	cd00009	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Gln302Glu	VAR_032091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032091	- Bjoernstad syndrome (BJS) [MIM:262000]	SWISS	162	pfam00004	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Gln302Glu	VAR_032091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032091	- Bjoernstad syndrome (BJS) [MIM:262000]	SWISS	566	smart00382	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Arg306His	VAR_032092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032092	- Bjoernstad syndrome (BJS) [MIM:262000]	SWISS	404	cd00009	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Arg306His	VAR_032092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032092	- Bjoernstad syndrome (BJS) [MIM:262000]	SWISS	166	pfam00004	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Arg306His	VAR_032092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032092	- Bjoernstad syndrome (BJS) [MIM:262000]	SWISS	570	smart00382	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Val327Ala	VAR_018163	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018163	- GRACILE syndrome [MIM:603358]	SWISS	450	cd00009	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Val327Ala	VAR_018163	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018163	- GRACILE syndrome [MIM:603358]	SWISS	213	pfam00004	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Val327Ala	VAR_018163	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018163	- GRACILE syndrome [MIM:603358]	SWISS	607	smart00382	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Val353Met	VAR_018164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018164	- Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]	SWISS	522	cd00009	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Val353Met	VAR_018164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018164	- Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]	SWISS	242	pfam00004	4757852,NP_004319|119964730,NP_001073335
617	46397351	Disease	p.Val353Met	VAR_018164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018164	- Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]	SWISS	672	smart00382	4757852,NP_004319|119964730,NP_001073335
627	114900	Disease	p.Thr2Ile	VAR_018260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018260	rs8192466 Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	No Domain	N/A	219842292,NP_001137279|25306267,NP_001700|25306257,NP_733929|219842300,NP_001137283|219842290,NP_001137278|219842309,NP_001137286|219842306,NP_001137285|25306264,NP_733931|25306253,NP_733928|219842288,NP_001137277|219842314,NP_001137288|219842294,NP_001137280|219842303,NP_001137284
7439	6175195	Disease	p.Ile3Thr	VAR_058273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058273	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	No Domain	N/A	4759310,NP_004174
7439	6175195	Disease	p.Thr6Pro	VAR_000830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000830	rs28940275 Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]	SWISS	No Domain	N/A	4759310,NP_004174
7439	6175195	Disease	p.Thr6Pro	VAR_000830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000830	rs28940275 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	No Domain	N/A	4759310,NP_004174
7439	6175195	Disease	p.Thr6Arg	VAR_017366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017366	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	No Domain	N/A	4759310,NP_004174
7439	6175195	Disease	p.Val9Ala	VAR_000831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000831	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	No Domain	N/A	4759310,NP_004174
7439	6175195	Disease	p.Val9Met	VAR_000832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000832	rs28940276 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	No Domain	N/A	4759310,NP_004174
7439	6175195	Disease	p.Ala10Thr	VAR_000833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000833	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	No Domain	N/A	4759310,NP_004174
7439	6175195	Disease	p.Ala10Val	VAR_010468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010468	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	No Domain	N/A	4759310,NP_004174
7439	6175195	Disease	p.Asn11Ile	VAR_017367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017367	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	No Domain	N/A	4759310,NP_004174
7439	6175195	Disease	p.Arg13His	VAR_010469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010469	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	No Domain	N/A	4759310,NP_004174
7439	6175195	Disease	p.Ser16Phe	VAR_010470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010470	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	No Domain	N/A	4759310,NP_004174
7439	6175195	Disease	p.Phe17Cys	VAR_010471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010471	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	No Domain	N/A	4759310,NP_004174
7439	6175195	Disease	p.Leu21Val	VAR_000834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000834	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	4	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Trp24Cys	VAR_000835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000835	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	7	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Arg25Gln	VAR_000836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000836	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	8	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Arg25Trp	VAR_000837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000837	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	8	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Gly26Arg	VAR_017368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017368	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	9	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Ser27Arg	VAR_000838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000838	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	10	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Tyr29His	VAR_017369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017369	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	12	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Lys30Arg	VAR_017370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017370	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	13	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Leu41Pro	VAR_017371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017371	- Bestrophinopathy autosomal recessive (ARB) [MIM:611809]	SWISS	24	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Leu41Pro	VAR_017371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017371	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	24	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Arg47His	VAR_017372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017372	rs28940278 Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]	SWISS	30	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Gln58Leu	VAR_000839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000839	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	74	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Ile73Asn	VAR_010472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010472	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	99	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Phe80Leu	VAR_017373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017373	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	107	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Leu82Val	VAR_010473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010473	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	109	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Tyr85His	VAR_000841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000841	rs28940274 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	112	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Val86Met	VAR_058274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058274	- Vitreoretinochoroidopathy autosomal dominant (ADVIRC) [MIM:193220]	SWISS	113	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Val89Ala	VAR_017374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017374	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	116	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Thr91Ile	VAR_017375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017375	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	118	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Arg92Cys	VAR_010474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010474	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	119	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Arg92His	VAR_010475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010475	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	119	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Arg92Ser	VAR_000842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000842	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	119	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Trp93Cys	VAR_000843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000843	rs28940273 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	120	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Gln96His	VAR_010476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010476	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	123	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Asn99Lys	VAR_000844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000844	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	126	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Leu100Arg	VAR_000845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000845	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	127	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Pro101Thr	VAR_017376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017376	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	128	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Trp102Arg	VAR_017377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017377	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	129	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Asp104Glu	VAR_000846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000846	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	131	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Asp104His	VAR_017378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017378	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	131	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Phe113Leu	VAR_025732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025732	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	140	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Asn133Lys	VAR_017379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017379	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	217	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Gly135Ser	VAR_010478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010478	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	219	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Leu140Arg	VAR_017380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017380	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	258	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Leu140Val	VAR_063169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063169	- Retinitis pigmentosa type 50 (RP50) [MIM:613194]	SWISS	258	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Arg141His	VAR_000847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000847	- Bestrophinopathy autosomal recessive (ARB) [MIM:611809]	SWISS	283	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Arg141His	VAR_000847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000847	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	283	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Ala146Lys	VAR_010479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010479	rs1800995 Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]	SWISS	308	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Pro152Ala	VAR_043493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043493	- Bestrophinopathy autosomal recessive (ARB) [MIM:611809]	SWISS	314	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Ala195Val	VAR_017381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017381	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	377	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Ile201Thr	VAR_025733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025733	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	383	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Ile205Thr	VAR_063170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063170	- Retinitis pigmentosa type 50 (RP50) [MIM:613194]	SWISS	388	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Leu207Ile	VAR_025734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025734	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	390	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Ser209Asn	VAR_000848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000848	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	392	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Arg218Cys	VAR_000849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000849	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	401	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Arg218His	VAR_010481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010481	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	401	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Arg218Gln	VAR_000850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000850	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	401	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Arg218Ser	VAR_000851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000851	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	401	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Cys221Trp	VAR_025735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025735	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	404	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Leu224Met	VAR_000852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000852	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	407	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Leu224Pro	VAR_025737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025737	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	407	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Tyr227Cys	VAR_000853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000853	- Retinitis pigmentosa type 50 (RP50) [MIM:613194]	SWISS	410	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Tyr227Asn	VAR_000854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000854	rs28941469 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	410	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Asp228Asn	VAR_063171	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063171	- Retinitis pigmentosa type 50 (RP50) [MIM:613194]	SWISS	411	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Ser231Arg	VAR_000855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000855	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	414	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Val235Leu	VAR_010482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010482	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	418	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Val235Met	VAR_000856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000856	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	418	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Tyr236Cys	VAR_058275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058275	- Vitreoretinochoroidopathy autosomal dominant (ADVIRC) [MIM:193220]	SWISS	419	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Thr237Arg	VAR_000857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000857	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	420	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Val239Met	VAR_058276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058276	- Vitreoretinochoroidopathy autosomal dominant (ADVIRC) [MIM:193220]	SWISS	422	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Thr241Asn	VAR_025738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025738	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	424	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Val242Met	VAR_058277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058277	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	425	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Ala243Thr	VAR_025739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025739	rs28940570 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	426	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Ala243Val	VAR_000858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000858	rs28940570 Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]	SWISS	426	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Ala243Val	VAR_000858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000858	rs28940570 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	426	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Phe276Leu	VAR_025741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025741	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	524	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Gln293Lys	VAR_010483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010483	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	541	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Leu294Val	VAR_025742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025742	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	542	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Ile295Thr	VAR_025743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025743	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	543	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Asn296His	VAR_025744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025744	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	544	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Asn296Ser	VAR_010484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010484	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	544	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Pro297Ala	VAR_000860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000860	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	545	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Pro297Ser	VAR_010485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010485	rs1805143 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	545	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Phe298Ser	VAR_025745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025745	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	546	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Gly299Ala	VAR_058313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058313	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	547	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Gly299Glu	VAR_000861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000861	rs28941468 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	547	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Glu300Asp	VAR_010486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010486	rs1805144 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	548	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Glu300Lys	VAR_000862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000862	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	548	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Asp301Glu	VAR_000863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000863	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	549	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Asp301Asn	VAR_000864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000864	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	549	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Asp302Gly	VAR_025746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025746	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	550	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Asp302His	VAR_025747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025747	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	550	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Asp302Val	VAR_025748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025748	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	550	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Asp303Glu	VAR_025749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025749	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	552	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Phe305Ser	VAR_000865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000865	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	554	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Glu306Asp	VAR_025750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025750	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	555	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Glu306Gly	VAR_025751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025751	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	555	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Thr307Ala	VAR_025752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025752	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	556	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Thr307Ile	VAR_010487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010487	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	556	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Asn308Ser	VAR_025753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025753	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	557	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Ile310Thr	VAR_000866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000866	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	559	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Val311Gly	VAR_000867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000867	- Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]	SWISS	560	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Asp312Asn	VAR_000868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000868	- Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]	SWISS	561	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Asp312Asn	VAR_000868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000868	- Bestrophinopathy autosomal recessive (ARB) [MIM:611809]	SWISS	561	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Val317Met	VAR_043494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043494	- Bestrophinopathy autosomal recessive (ARB) [MIM:611809]	SWISS	566	pfam01062	4759310,NP_004174
7439	6175195	Disease	p.Met325Thr	VAR_043495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043495	- Bestrophinopathy autosomal recessive (ARB) [MIM:611809]	SWISS	No Domain	N/A	4759310,NP_004174
8419	17366451	Disease	p.Arg287Trp	VAR_012164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012164	- Cataract autosomal dominant BFSP2-related (ADC-BFSP2) [MIM:611597]	SWISS	250	pfam00038	4502995,NP_003562
274	14916535	Disease	p.Lys35Asn	VAR_037425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037425	- Centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]	SWISS	4	cd07591	21536400,NP_647593
274	14916535	Disease	p.Lys35Asn	VAR_037425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037425	- Centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]	SWISS	4	cd07590	21536400,NP_647593
274	14916535	Disease	p.Lys35Asn	VAR_037425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037425	- Centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]	SWISS	23	smart00721	21536400,NP_647593
274	14916535	Disease	p.Lys35Asn	VAR_037425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037425	- Centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]	SWISS	22	pfam03114	21536400,NP_647593
274	14916535	Disease	p.Lys35Asn	VAR_037425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037425	- Centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]	SWISS	5	cd07612	21536400,NP_647593
274	14916535	Disease	p.Lys35Asn	VAR_037425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037425	- Centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]	SWISS	5	cd07611	21536400,NP_647593
274	14916535	Disease	p.Lys35Asn	VAR_037425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037425	- Centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]	SWISS	5	cd07588	21536400,NP_647593
274	14916535	Disease	p.Asp151Asn	VAR_037426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037426	- Centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]	SWISS	156	cd07307	21536400,NP_647593
274	14916535	Disease	p.Asp151Asn	VAR_037426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037426	- Centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]	SWISS	174	cd07591	21536400,NP_647593
274	14916535	Disease	p.Asp151Asn	VAR_037426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037426	- Centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]	SWISS	125_G	cd07590	21536400,NP_647593
274	14916535	Disease	p.Asp151Asn	VAR_037426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037426	- Centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]	SWISS	184	smart00721	21536400,NP_647593
274	14916535	Disease	p.Asp151Asn	VAR_037426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037426	- Centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]	SWISS	186	pfam03114	21536400,NP_647593
274	14916535	Disease	p.Asp151Asn	VAR_037426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037426	- Centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]	SWISS	148	cd07612	21536400,NP_647593
274	14916535	Disease	p.Asp151Asn	VAR_037426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037426	- Centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]	SWISS	121	cd07611	21536400,NP_647593
274	14916535	Disease	p.Asp151Asn	VAR_037426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037426	- Centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]	SWISS	121	cd07588	21536400,NP_647593
641	1705486	Disease	p.Gln672Arg	VAR_006901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006901	- Bloom syndrome (BLM) [MIM:210900]	SWISS	70	COG1061	4557365,NP_000048
641	1705486	Disease	p.Gln672Arg	VAR_006901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006901	- Bloom syndrome (BLM) [MIM:210900]	SWISS	14	smart00487	4557365,NP_000048
641	1705486	Disease	p.Gln672Arg	VAR_006901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006901	- Bloom syndrome (BLM) [MIM:210900]	SWISS	5	pfam00270	4557365,NP_000048
641	1705486	Disease	p.Gln672Arg	VAR_006901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006901	- Bloom syndrome (BLM) [MIM:210900]	SWISS	70	COG0513	4557365,NP_000048
641	1705486	Disease	p.Gln672Arg	VAR_006901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006901	- Bloom syndrome (BLM) [MIM:210900]	SWISS	80	COG0514	4557365,NP_000048
641	1705486	Disease	p.Ile841Thr	VAR_016032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016032	- Bloom syndrome (BLM) [MIM:210900]	SWISS	312	COG1061	4557365,NP_000048
641	1705486	Disease	p.Ile841Thr	VAR_016032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016032	- Bloom syndrome (BLM) [MIM:210900]	SWISS	1220	smart00487	4557365,NP_000048
641	1705486	Disease	p.Ile841Thr	VAR_016032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016032	- Bloom syndrome (BLM) [MIM:210900]	SWISS	376	COG0513	4557365,NP_000048
641	1705486	Disease	p.Ile841Thr	VAR_016032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016032	- Bloom syndrome (BLM) [MIM:210900]	SWISS	326	COG0514	4557365,NP_000048
641	1705486	Disease	p.Thr843Ile	VAR_006902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006902	- Bloom syndrome (BLM) [MIM:210900]	SWISS	314	COG1061	4557365,NP_000048
641	1705486	Disease	p.Thr843Ile	VAR_006902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006902	- Bloom syndrome (BLM) [MIM:210900]	SWISS	1222	smart00487	4557365,NP_000048
641	1705486	Disease	p.Thr843Ile	VAR_006902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006902	- Bloom syndrome (BLM) [MIM:210900]	SWISS	378	COG0513	4557365,NP_000048
641	1705486	Disease	p.Thr843Ile	VAR_006902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006902	- Bloom syndrome (BLM) [MIM:210900]	SWISS	328	COG0514	4557365,NP_000048
641	1705486	Disease	p.Cys878Arg	VAR_016033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016033	- Bloom syndrome (BLM) [MIM:210900]	SWISS	402	COG1061	4557365,NP_000048
641	1705486	Disease	p.Cys878Arg	VAR_016033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016033	- Bloom syndrome (BLM) [MIM:210900]	SWISS	447	COG0513	4557365,NP_000048
641	1705486	Disease	p.Cys878Arg	VAR_016033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016033	- Bloom syndrome (BLM) [MIM:210900]	SWISS	383	COG0514	4557365,NP_000048
641	1705486	Disease	p.Cys878Arg	VAR_016033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016033	- Bloom syndrome (BLM) [MIM:210900]	SWISS	26	cd00079	4557365,NP_000048
641	1705486	Disease	p.Gly891Glu	VAR_009138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009138	- Bloom syndrome (BLM) [MIM:210900]	SWISS	423	COG1061	4557365,NP_000048
641	1705486	Disease	p.Gly891Glu	VAR_009138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009138	- Bloom syndrome (BLM) [MIM:210900]	SWISS	516	COG0513	4557365,NP_000048
641	1705486	Disease	p.Gly891Glu	VAR_009138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009138	- Bloom syndrome (BLM) [MIM:210900]	SWISS	411	COG0514	4557365,NP_000048
641	1705486	Disease	p.Gly891Glu	VAR_009138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009138	- Bloom syndrome (BLM) [MIM:210900]	SWISS	60	cd00079	4557365,NP_000048
641	1705486	Disease	p.Cys901Tyr	VAR_009139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009139	- Bloom syndrome (BLM) [MIM:210900]	SWISS	433	COG1061	4557365,NP_000048
641	1705486	Disease	p.Cys901Tyr	VAR_009139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009139	- Bloom syndrome (BLM) [MIM:210900]	SWISS	526	COG0513	4557365,NP_000048
641	1705486	Disease	p.Cys901Tyr	VAR_009139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009139	- Bloom syndrome (BLM) [MIM:210900]	SWISS	421	COG0514	4557365,NP_000048
641	1705486	Disease	p.Cys901Tyr	VAR_009139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009139	- Bloom syndrome (BLM) [MIM:210900]	SWISS	91	cd00079	4557365,NP_000048
641	1705486	Disease	p.Cys1036Phe	VAR_009140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009140	- Bloom syndrome (BLM) [MIM:210900]	SWISS	672	COG1061	4557365,NP_000048
641	1705486	Disease	p.Cys1036Phe	VAR_009140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009140	- Bloom syndrome (BLM) [MIM:210900]	SWISS	864	COG0513	4557365,NP_000048
641	1705486	Disease	p.Cys1036Phe	VAR_009140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009140	- Bloom syndrome (BLM) [MIM:210900]	SWISS	575	COG0514	4557365,NP_000048
641	1705486	Disease	p.Cys1055Ser	VAR_006903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006903	- Bloom syndrome (BLM) [MIM:210900]	SWISS	883	COG0513	4557365,NP_000048
641	1705486	Disease	p.Cys1055Ser	VAR_006903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006903	- Bloom syndrome (BLM) [MIM:210900]	SWISS	591	COG0514	4557365,NP_000048
9210	51338749	Disease	p.Arg61Gln	VAR_058975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058975	- Premature ovarian failure type 4 (POF4) [MIM:300510]	SWISS	No Domain	N/A	257743454,NP_005439
9210	51338749	Disease	p.Arg61Trp	VAR_058976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058976	- Premature ovarian failure type 4 (POF4) [MIM:300510]	SWISS	No Domain	N/A	257743454,NP_005439
9210	51338749	Disease	p.Arg68Trp	VAR_058977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058977	- Premature ovarian failure type 4 (POF4) [MIM:300510]	SWISS	No Domain	N/A	257743454,NP_005439
9210	51338749	Disease	p.Arg76Cys	VAR_058978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058978	- Premature ovarian failure type 4 (POF4) [MIM:300510]	SWISS	No Domain	N/A	257743454,NP_005439
9210	51338749	Disease	p.Arg76His	VAR_058979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058979	- Premature ovarian failure type 4 (POF4) [MIM:300510]	SWISS	No Domain	N/A	257743454,NP_005439
9210	51338749	Disease	p.Arg138His	VAR_058981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058981	- Premature ovarian failure type 4 (POF4) [MIM:300510]	SWISS	No Domain	N/A	257743454,NP_005439
9210	51338749	Disease	p.Leu148Pro	VAR_058982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058982	- Premature ovarian failure type 4 (POF4) [MIM:300510]	SWISS	No Domain	N/A	257743454,NP_005439
9210	51338749	Disease	p.Ala180Thr	VAR_058984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058984	- Premature ovarian failure type 4 (POF4) [MIM:300510]	SWISS	No Domain	N/A	257743454,NP_005439
9210	51338749	Disease	p.Asn196Lys	VAR_058985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058985	- Premature ovarian failure type 4 (POF4) [MIM:300510]	SWISS	No Domain	N/A	257743454,NP_005439
9210	51338749	Disease	p.Arg206His	VAR_058986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058986	- Premature ovarian failure type 4 (POF4) [MIM:300510]	SWISS	No Domain	N/A	257743454,NP_005439
9210	51338749	Disease	p.Trp221Arg	VAR_058987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058987	- Premature ovarian failure type 4 (POF4) [MIM:300510]	SWISS	No Domain	N/A	257743454,NP_005439
9210	51338749	Disease	p.Tyr235Cys	VAR_021195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021195	- Ovarian dysgenesis type 2 (ODG2) [MIM:300510]	SWISS	No Domain	N/A	257743454,NP_005439
9210	51338749	Disease	p.Ile243Val	VAR_058988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058988	- Premature ovarian failure type 4 (POF4) [MIM:300510]	SWISS	No Domain	N/A	257743454,NP_005439
652	115073	Disease	p.Ser91Cys	VAR_043531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043531	- Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625]	SWISS	143	pfam00688	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
652	115073	Disease	p.Glu93Gly	VAR_043532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043532	- Microphthalmia syndromic type 6 (MCOPS6) [MIM:607932]	SWISS	145	pfam00688	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
652	115073	Disease	p.Arg162Gln	VAR_058315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058315	- Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625]	SWISS	273	pfam00688	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
652	115073	Disease	p.Arg287His	VAR_058317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058317	- Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625]	SWISS	No Domain	N/A	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
652	115073	Disease	p.Ala346Val	VAR_058318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058318	- Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625]	SWISS	40	smart00204	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
652	115073	Disease	p.Ala346Val	VAR_058318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058318	- Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625]	SWISS	43	pfam00019	157276593,NP_001193|157276595,NP_570911|157276597,NP_570912
657	61252444	Disease	p.Tyr62Asp	VAR_022828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022828	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	4	pfam01064	41349437,NP_004320
657	61252444	Disease	p.Cys82Tyr	VAR_022829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022829	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	59	pfam01064	41349437,NP_004320
657	61252444	Disease	p.Cys124Arg	VAR_015533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015533	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	129	pfam01064	41349437,NP_004320
657	61252444	Disease	p.Cys130Arg	VAR_022830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022830	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	137	pfam01064	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	115	cd08529	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	115	cd06646	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	115	cd06645	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	136	cd05049	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	127	cd06636	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	393	smart00219	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	189	pfam00069	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	263	pfam07714	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	470	smart00221	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	119	cd07835	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	125	cd05075	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	122	cd05074	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	132	cd05035	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	104	cd05115	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	127	cd07864	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	120	cd06637	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	118	cd05111	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	127	cd06658	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	377	smart00220	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	135	cd07838	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	114	cd05148	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	130_G	cd06632	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	149	cd07829	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	161	cd07830	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	114	cd06611	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	111	cd06626	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	142	cd05122	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	115	cd06625	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	152	cd07834	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	158	cd07840	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	118	cd05118	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	152	cd06608	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	117	cd05088	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	159	cd05053	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	143	cd07851	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	133	cd06638	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	618	cd05123	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	168	cd05572	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	339	cd00180	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	105	cd05579	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	121	cd05047	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	107	cd05577	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	114	cd05058	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	104	cd05116	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	111	cd05060	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	105	cd05041	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	112	cd05042	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	103	cd05084	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	103	cd05085	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	119	cd05044	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	113	cd05040	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	316	cd00192	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	110	cd05578	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	111	cd08223	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	106	cd07836	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	111	cd07861	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	173	cd05032	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	113	cd06631	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	189	cd06606	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	131	cd08528	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	110	cd08225	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	213	cd07842	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	114	cd05583	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	109	cd07860	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	108	cd07839	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	120	cd07863	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	248	cd05055	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	115	cd08530	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	147	cd08215	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	108	cd08219	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	126	cd07841	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	116	cd06627	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	110	cd08218	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	111	cd08221	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	119	cd08220	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	118	cd07857	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	111	cd05605	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	136	cd05045	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	124	cd07832	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	133	cd07865	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	133	cd05090	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	126	cd06659	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	118	cd05109	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	111	cd05067	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	123	cd05091	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	110	cd05073	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	136	cd05048	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	114	cd05068	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	129	cd05061	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	129	cd05093	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	127	cd05036	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	117	cd05062	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	117	cd05063	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	131	cd07833	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	112	cd06613	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	119	cd07849	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	125	cd06648	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	124_G	cd07852	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	130	cd07845	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	114	cd05092	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	170	cd05057	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	113	cd05052	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	115	cd05039	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	111	cd05082	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	110	cd06641	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	110	cd06642	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	116	cd08224	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	110	cd06640	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	115	cd08229	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	111	cd05059	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	110	cd05113	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	109	cd05114	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	116	cd05064	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	115	cd05066	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	115	cd05065	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	117	cd05081	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	118	cd05079	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	144	cd06639	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	111	cd05069	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	110	cd05072	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	111	cd05070	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	117	cd07856	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	111	cd05071	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	113	cd07844	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	109	cd05112	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	137	cd05038	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	142	cd05033	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	222	cd05581	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	112	cd05034	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	123	cd06622	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	109	cd05083	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	113	cd06617	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	124	cd06612	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	115	cd06610	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	119	cd06621	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	119	cd07862	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	111	cd07847	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	118	cd05050	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	195	cd05046	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	127	cd07837	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	122_G	cd06917	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	110	cd06615	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	126	cd06605	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	116	cd05080	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	110	cd07846	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	144	cd06623	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	128	cd05089	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	132	cd06609	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	122	cd06624	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	124	cd06656	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	145	cd05056	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	151	cd05043	41349437,NP_004320
657	61252444	Disease	p.Ala338Asp	VAR_015534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015534	- Cowden disease (CD) [MIM:158350]	SWISS	159	cd06614	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	145	cd08529	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	145	cd06646	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	145	cd06645	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	168	cd05049	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	160	cd06636	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	452	smart00219	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	231	pfam00069	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	314	pfam07714	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	600	smart00221	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	166	cd07835	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	166	cd05075	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	152	cd05074	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	162	cd05035	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	134	cd05115	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	157	cd07864	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	150	cd06637	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	148	cd05111	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	157	cd06658	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	507	smart00220	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	166	cd07838	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	144	cd05148	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	158	cd06632	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	189	cd07829	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	215	cd07830	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	144	cd06611	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	142	cd06626	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	174	cd05122	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	145	cd06625	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	185	cd07834	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	189	cd07840	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	148	cd05118	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	182	cd06608	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	163	cd05088	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	189	cd05053	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	173	cd07851	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	163	cd06638	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	655	cd05123	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	207	cd05572	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	439	cd00180	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	135	cd05579	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	151	cd05047	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	139	cd05577	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	144	cd05058	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	134	cd05116	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	141	cd05060	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	135	cd05041	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	142	cd05042	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	133	cd05084	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	133	cd05085	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	152	cd05044	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	147	cd05040	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	359	cd00192	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	140	cd05578	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	141	cd08223	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	142	cd07836	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	141	cd07861	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	203	cd05032	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	143	cd06631	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	229	cd06606	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	162	cd08528	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	140	cd08225	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	249	cd07842	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	144	cd05583	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	139	cd07860	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	138	cd07839	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	150	cd07863	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	278	cd05055	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	148	cd08530	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	199	cd08215	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	139	cd08219	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	156	cd07841	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	149	cd06627	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	140	cd08218	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	141	cd08221	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	149	cd08220	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	148	cd07857	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	141	cd05605	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	166	cd05045	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	159	cd07832	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	163	cd07865	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	163	cd05090	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	156	cd06659	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	148	cd05109	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	141	cd05067	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	163	cd05091	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	142	cd05073	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	166	cd05048	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	144	cd05068	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	159	cd05061	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	159	cd05093	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	160	cd05036	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	158	cd05062	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	147	cd05063	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	166	cd07833	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	142	cd06613	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	149	cd07849	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	155	cd06648	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	148	cd07852	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	160	cd07845	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	161	cd05092	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	201	cd05057	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	143	cd05052	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	145	cd05039	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	141	cd05082	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	140	cd06641	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	140	cd06642	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	146	cd08224	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	140	cd06640	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	145	cd08229	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	141	cd05059	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	140	cd05113	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	139	cd05114	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	146	cd05064	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	145	cd05066	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	145	cd05065	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	147	cd05081	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	148	cd05079	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	174	cd06639	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	141	cd05069	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	142	cd05072	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	141	cd05070	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	147	cd07856	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	141	cd05071	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	143	cd07844	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	139	cd05112	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	167	cd05038	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	177	cd05033	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	255	cd05581	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	146	cd05034	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	155	cd06622	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	139	cd05083	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	144	cd06617	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	154	cd06612	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	151	cd06610	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	149	cd06621	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	149	cd07862	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	145	cd07847	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	172	cd05050	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	225	cd05046	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	158	cd07837	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	150	cd06917	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	141	cd06615	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	158	cd06605	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	146	cd05080	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	140	cd07846	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	188	cd06623	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	158	cd05089	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	163	cd06609	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	153	cd06624	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	154	cd06656	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	175	cd05056	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	173	cd05043	41349437,NP_004320
657	61252444	Disease	p.Cys376Tyr	VAR_015535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015535	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	191	cd06614	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	244	cd08529	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	203_G	cd06646	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	203_G	cd06645	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	227_G	cd05049	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	220_G	cd06636	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	586	smart00219	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	348	pfam00069	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	393	pfam07714	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	865	smart00221	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	225	cd07835	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	225	cd05075	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	211	cd05074	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	221	cd05035	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	190_G	cd05115	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	218	cd07864	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	210_G	cd06637	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	204_G	cd05111	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	211_G	cd06658	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	790	smart00220	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	245	cd07838	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	199_G	cd05148	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	220_G	cd06632	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	251	cd07829	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	272	cd07830	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	204_G	cd06611	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	245	cd06626	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	241	cd05122	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	213	cd06625	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	285	cd07834	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	296	cd07840	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	209	cd05118	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	247_G	cd06608	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	215_G	cd05088	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	246_G	cd05053	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	229_G	cd07851	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	225	cd06638	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	805_G	cd05123	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	264_G	cd05572	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	681	cd00180	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	737_G	cd05579	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	203_G	cd05047	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	205	cd05577	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	205	cd05058	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	194	cd05116	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	201	cd05060	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	191_G	cd05041	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	207_G	cd05042	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	188_G	cd05084	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	187_G	cd05085	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	212_G	cd05044	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	209	cd05040	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	434	cd00192	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	207	cd05578	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	198	cd08223	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	201	cd07836	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	200	cd07861	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	260_G	cd05032	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	204_G	cd06631	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	340_G	cd06606	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	217_G	cd08528	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	195_G	cd08225	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	313	cd07842	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	205	cd05583	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	198	cd07860	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	198	cd07839	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	206	cd07863	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	334_G	cd05055	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	202_G	cd08530	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	278	cd08215	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	198	cd08219	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	234	cd07841	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	238_G	cd06627	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	199	cd08218	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	202	cd08221	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	208	cd08220	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	215	cd07857	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	202	cd05605	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	222_G	cd05045	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	219	cd07832	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	228	cd07865	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	222	cd05090	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	211_G	cd06659	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	204_G	cd05109	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	195_G	cd05067	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	218_G	cd05091	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	196_G	cd05073	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	221_G	cd05048	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	202_G	cd05068	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	217_G	cd05061	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	215_G	cd05093	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	217_G	cd05036	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	216_G	cd05062	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	204_G	cd05063	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	274	cd07833	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	203_G	cd06613	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	222	cd07849	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	209_G	cd06648	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	226	cd07852	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	221	cd07845	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	217_G	cd05092	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	258_G	cd05057	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	199_G	cd05052	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	199_G	cd05039	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	192_G	cd05082	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	197	cd06641	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	197	cd06642	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	205	cd08224	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	197	cd06640	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	204	cd08229	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	196_G	cd05059	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	194_G	cd05113	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	193_G	cd05114	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	201_G	cd05064	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	201_G	cd05066	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	203_G	cd05065	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	207	cd05081	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	208	cd05079	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	236	cd06639	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	196_G	cd05069	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	197_G	cd05072	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	196_G	cd05070	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	203	cd07856	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	197_G	cd05071	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	202	cd07844	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	193_G	cd05112	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	234	cd05038	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	238_G	cd05033	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	444_G	cd05581	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	207_G	cd05034	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	221	cd06622	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	189_G	cd05083	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	202_G	cd06617	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	214_G	cd06612	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	218_G	cd06610	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	205	cd06621	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	206	cd07862	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	205	cd07847	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	231	cd05050	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	279_G	cd05046	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	216	cd07837	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	208_G	cd06917	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	198	cd06615	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	218_G	cd06605	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	206	cd05080	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	217	cd07846	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	251_G	cd06623	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	210_G	cd05089	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	225_G	cd06609	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	217	cd06624	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	209_G	cd06656	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	235	cd05056	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	241_G	cd05043	41349437,NP_004320
657	61252444	Disease	p.Arg443Cys	VAR_022831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022831	rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	248_G	cd06614	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	222	cd06646	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	222	cd06645	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	241_G	cd05049	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	232	cd06636	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	643	smart00219	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	377	pfam00069	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	430	pfam07714	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	979	smart00221	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	252	cd07835	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	242	cd05075	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	225	cd05074	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	238	cd05035	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	208	cd05115	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	248	cd07864	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	222	cd06637	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	231	cd05111	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	227	cd06658	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	902	smart00220	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	274	cd07838	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	220	cd05148	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	236	cd06632	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	307	cd07829	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	351_G	cd07830	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	216	cd06611	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	261_G	cd06626	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	293	cd05122	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	239	cd06625	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	362	cd07834	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	370_G	cd07840	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	252	cd05118	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	286	cd06608	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	236	cd05088	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	266	cd05053	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	260	cd07851	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	250	cd06638	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	825	cd05123	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	283_G	cd05572	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	806	cd00180	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	767	cd05579	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	224	cd05047	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	259	cd05577	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	219	cd05058	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	208	cd05116	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	209	cd05060	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	207	cd05041	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	222	cd05042	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	205	cd05084	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	204	cd05085	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	229	cd05044	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	223	cd05040	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	461	cd00192	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	219	cd05578	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	225	cd08223	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	228	cd07836	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	227	cd07861	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	275	cd05032	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	219	cd06631	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	362	cd06606	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	243	cd08528	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	210	cd08225	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	373	cd07842	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	236	cd05583	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	225	cd07860	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	225	cd07839	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	234	cd07863	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	355	cd05055	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	216	cd08530	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	329	cd08215	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	229	cd08219	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	278	cd07841	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	276	cd06627	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	229	cd08218	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	234	cd08221	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	238	cd08220	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	242	cd07857	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	231	cd05605	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	238	cd05045	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	274	cd07832	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	280	cd07865	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	235	cd05090	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	222_G	cd06659	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	230	cd05109	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	225	cd05067	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	235	cd05091	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	214	cd05073	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	235	cd05048	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	219	cd05068	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	231	cd05061	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	231_G	cd05093	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	234	cd05036	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	230	cd05062	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	221	cd05063	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	331	cd07833	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	215	cd06613	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	250	cd07849	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	221_G	cd06648	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	254	cd07852	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	251	cd07845	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	231	cd05092	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	274	cd05057	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	218	cd05052	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	212	cd05039	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	210_G	cd05082	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	220	cd06641	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	224	cd06642	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	239	cd08224	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	222	cd06640	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	237	cd08229	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	213	cd05059	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	212	cd05113	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	211	cd05114	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	219	cd05064	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	219	cd05066	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	221	cd05065	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	228	cd05081	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	230	cd05079	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	261	cd06639	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	209	cd05069	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	214	cd05072	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	209	cd05070	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	230	cd07856	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	213	cd05071	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	230	cd07844	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	211	cd05112	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	264	cd05038	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	255	cd05033	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	463	cd05581	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	224	cd05034	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	257	cd06622	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	206	cd05083	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	242	cd06617	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	226	cd06612	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	249	cd06610	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	251	cd06621	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	234	cd07862	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	245	cd07847	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	242_G	cd05050	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	297	cd05046	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	244	cd07837	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	220	cd06917	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	225	cd06615	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	237	cd06605	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	220	cd05080	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	250	cd07846	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	277	cd06623	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	231	cd05089	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	238	cd06609	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	245	cd06624	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	232	cd06656	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	249	cd05056	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	257	cd05043	41349437,NP_004320
657	61252444	Disease	p.Met470Thr	VAR_022832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022832	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	284	cd06614	41349437,NP_004320
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	3	cd05063	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	3	cd05048	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	4	cd05073	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	4	cd05068	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	3	cd05091	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	4	cd05067	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	4	cd05061	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	3	cd05094	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	3	cd05093	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	3	cd05036	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	4	cd05062	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	15	cd05098	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	8	cd06614	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	29	smart00467	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	32	pfam08515	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	22	cd06639	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	4	cd05111	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	5	cd07864	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	4	cd06637	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	11	cd07865	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	17	cd06648	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	5_G	cd05056	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	7	cd06624	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	13	cd07851	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	9	cd05099	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	9	cd05053	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	9	cd05088	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	9	cd06638	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	2	cd05033	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	2	cd05112	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	3	cd07844	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	3	cd05072	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	3	cd05070	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	3	cd05069	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	3	cd05071	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	2	cd05038	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	10	cd05090	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	5	cd05057	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	6_G	cd05052	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	4_G	cd05092	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	14	cd06636	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	7	cd06646	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	7	cd06645	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	6	cd07866	4502431,NP_001194
658	6226778	Disease	p.Ile200Lys	VAR_023819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023819	rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	4_G	cd05049	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	275	cd05035	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	278	cd05075	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	264	cd05074	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	309	cd07835	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	1076	smart00221	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	695	smart00219	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	477	pfam07714	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	467	pfam00069	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	260	cd05063	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	284	cd05048	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	253	cd05073	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	258	cd05068	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	275	cd05091	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	278	cd05067	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	271	cd05061	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	334	cd05094	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	271	cd05093	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	273	cd05036	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	270	cd05062	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	518	cd00192	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	258	cd05058	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	247	cd05116	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	254	cd05060	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	260	cd05047	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	245	cd05084	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	268	cd05044	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	247	cd05041	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	264	cd05040	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	244	cd05085	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	266	cd05042	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	291	cd05098	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	317	cd06614	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	269	cd06611	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	303	cd06626	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	288	cd05148	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	293	cd07831	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	276	cd06632	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	348	cd07838	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	512	cd07834	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	346	cd07849	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	265	cd06613	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	290	cd06639	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	1227	smart00220	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	277	cd05111	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	297_G	cd07864	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	265	cd06637	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	279	cd07839	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	276	cd07836	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	391	cd05055	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	333	cd07841	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	282	cd05578	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	301	cd07857	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	254_G	cd08530	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	281	cd05583	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	293	cd05613	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	275_G	cd07860	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	286	cd07861	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	319	cd05032	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	284	cd07863	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	269	cd06648	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	337	cd05572	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	267	cd05606	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	924	cd05123	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	866	cd00180	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	289	cd05056	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	268	cd06624	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	327	cd07851	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	285	cd05099	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	302	cd05053	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	293	cd05088	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	281	cd06638	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	294	cd05033	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	250	cd05112	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	281	cd07844	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	253	cd05072	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	252	cd05070	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	252	cd05069	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	252	cd05071	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	325	cd05038	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	301	cd07846	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	334	cd06623	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	309	cd07845	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	297	cd06609	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	321	cd06615	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	269	cd06917	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	267	cd05089	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	334	cd06622	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	246	cd05083	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	265	cd05034	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	277	cd06617	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	273	cd05080	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	338	cd05046	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	288	cd07862	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	295	cd07837	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	297	cd07847	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	284	cd05050	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	288	cd06610	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	247	cd05115	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	275	cd05090	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	258	cd06640	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	260_G	cd06642	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	258	cd05064	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	275	cd05081	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	260	cd05065	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	275	cd05079	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	258	cd05066	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	252	cd05059	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	251	cd05113	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	250	cd05114	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	248	cd05082	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	259	cd05039	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	262	cd08224	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	301	cd05095	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	270	cd06641	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	314	cd05057	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	254	cd05052	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	281	cd05092	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	276	cd06636	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	261	cd06646	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	261	cd06645	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	346	cd07866	4502431,NP_001194
658	6226778	Disease	p.Arg486Gln	VAR_037967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037967	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	293	cd05049	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	275	cd05035	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	278	cd05075	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	264	cd05074	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	309	cd07835	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	1076	smart00221	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	695	smart00219	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	477	pfam07714	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	467	pfam00069	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	260	cd05063	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	284	cd05048	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	253	cd05073	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	258	cd05068	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	275	cd05091	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	278	cd05067	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	271	cd05061	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	334	cd05094	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	271	cd05093	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	273	cd05036	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	270	cd05062	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	518	cd00192	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	258	cd05058	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	247	cd05116	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	254	cd05060	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	260	cd05047	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	245	cd05084	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	268	cd05044	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	247	cd05041	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	264	cd05040	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	244	cd05085	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	266	cd05042	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	291	cd05098	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	317	cd06614	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	269	cd06611	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	303	cd06626	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	288	cd05148	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	293	cd07831	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	276	cd06632	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	348	cd07838	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	512	cd07834	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	346	cd07849	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	265	cd06613	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	290	cd06639	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	1227	smart00220	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	277	cd05111	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	297_G	cd07864	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	265	cd06637	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	279	cd07839	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	276	cd07836	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	391	cd05055	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	333	cd07841	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	282	cd05578	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	301	cd07857	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	254_G	cd08530	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	281	cd05583	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	293	cd05613	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	275_G	cd07860	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	286	cd07861	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	319	cd05032	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	284	cd07863	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	269	cd06648	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	337	cd05572	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	267	cd05606	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	924	cd05123	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	866	cd00180	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	289	cd05056	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	268	cd06624	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	327	cd07851	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	285	cd05099	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	302	cd05053	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	293	cd05088	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	281	cd06638	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	294	cd05033	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	250	cd05112	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	281	cd07844	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	253	cd05072	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	252	cd05070	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	252	cd05069	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	252	cd05071	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	325	cd05038	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	301	cd07846	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	334	cd06623	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	309	cd07845	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	297	cd06609	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	321	cd06615	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	269	cd06917	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	267	cd05089	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	334	cd06622	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	246	cd05083	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	265	cd05034	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	277	cd06617	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	273	cd05080	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	338	cd05046	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	288	cd07862	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	295	cd07837	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	297	cd07847	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	284	cd05050	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	288	cd06610	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	247	cd05115	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	275	cd05090	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	258	cd06640	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	260_G	cd06642	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	258	cd05064	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	275	cd05081	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	260	cd05065	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	275	cd05079	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	258	cd05066	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	252	cd05059	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	251	cd05113	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	250	cd05114	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	248	cd05082	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	259	cd05039	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	262	cd08224	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	301	cd05095	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	270	cd06641	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	314	cd05057	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	254	cd05052	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	281	cd05092	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	276	cd06636	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	261	cd06646	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	261	cd06645	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	346	cd07866	4502431,NP_001194
658	6226778	Disease	p.Arg486Trp	VAR_023820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023820	rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	293	cd05049	4502431,NP_001194
659	12643724	Disease	p.Cys60Tyr	VAR_013670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013670	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	34	pfam01064	15451916,NP_001195
659	12643724	Disease	p.Gln82His	VAR_033109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033109	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	78	pfam01064	15451916,NP_001195
659	12643724	Disease	p.Cys117Tyr	VAR_013671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013671	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	131	pfam01064	15451916,NP_001195
659	12643724	Disease	p.Cys118Trp	VAR_013672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013672	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	132	pfam01064	15451916,NP_001195
659	12643724	Disease	p.Cys123Arg	VAR_013673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013673	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	137	pfam01064	15451916,NP_001195
659	12643724	Disease	p.Cys123Ser	VAR_013674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013674	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	137	pfam01064	15451916,NP_001195
659	12643724	Disease	p.Gly182Asp	VAR_033110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033110	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	2	cd06638	15451916,NP_001195
659	12643724	Disease	p.Gly182Asp	VAR_033110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033110	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	4	cd06648	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	147	cd06628	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	144	cd05148	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	163	cd06638	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	142	cd06630	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	158	cd06632	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	134	cd05116	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	156	cd05044	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	147	cd05040	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	139	cd05086	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	142	cd05042	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	141	cd05060	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	359	cd00192	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	149	cd06629	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	144	cd05087	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	133	cd05085	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	143	cd06631	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	135	cd05041	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	133	cd05084	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	134	cd05115	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	139	cd05114	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	139	cd05112	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	140	cd05113	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	141	cd05059	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	154	cd06616	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	148	cd05110	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	170	cd05038	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	145	cd05065	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	147	cd05081	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	148	cd05079	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	145	cd05066	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	145	cd05039	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	177	cd05033	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	162	cd05574	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	146	cd05034	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	201	cd05057	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	148	cd05109	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	148	cd05111	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	148	cd05108	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	139	cd05083	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	203	cd05032	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	158	cd06618	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	150	cd06637	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	191	cd06614	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	142	cd06626	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	146	cd08224	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	155	cd06648	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	173	cd07851	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	162	cd05094	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	180	cd05095	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	170	cd05049	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	148	cd07858	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	175	cd05056	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	166	cd05048	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	172	cd05050	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	225	cd05046	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	170	cd05097	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	159	cd05061	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	157	cd07864	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	161	cd05092	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	142	cd05073	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	142	cd05072	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	141	cd05067	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	144	cd05068	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	141	cd05082	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	146	cd05064	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	143	cd05052	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	147	cd05063	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	158	cd05062	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	452	smart00219	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	231	pfam00069	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	314	pfam07714	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	166	cd07835	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	146	cd05080	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	214	cd07830	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	148	cd05118	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	189	cd07829	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	166	cd07838	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	600	smart00221	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	189	cd07840	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	162	cd05035	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	163	cd07865	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	145	cd06646	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	174	cd06639	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	179	cd05098	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	159	cd07850	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	153	cd06624	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	507	smart00220	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	189	cd05053	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	140	cd06640	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	143	cd07872	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	143	cd07873	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	142	cd07871	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	143	cd07844	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	142	cd06613	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	142	cd07870	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	140	cd06642	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	138	cd07839	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	139	cd07860	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	141	cd07861	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	150	cd07863	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	229	cd06606	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	156	cd07841	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	144	cd05614	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	166	cd05045	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	174	cd05122	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	143	cd07853	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	148	cd08530	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	142	cd07836	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	199	cd08215	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	149	cd08220	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	145	cd08529	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	210	cd08217	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	149	cd06627	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	159	cd07832	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	140	cd05578	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	145	cd06651	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	144	cd05583	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	157	cd05613	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	148	cd07857	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	185	cd07834	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	249	cd07842	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	157	cd07880	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	158	cd07874	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	655	cd05123	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	135	cd05579	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	439	cd00180	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	173	cd05099	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	659	COG0515	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	188	cd06623	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	155	cd06622	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	158	cd07837	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	182	cd06608	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	151	cd06610	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	145	cd06625	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	150	cd06917	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	140	cd05612	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	141	cd05597	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	140	cd07846	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	145	cd07847	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	140	cd05609	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	144	cd06617	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	141	cd06615	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	163	cd06609	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	158	cd06605	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	255	cd05581	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	160	cd05036	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	154	cd06612	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	163	cd05088	15451916,NP_001195
659	12643724	Disease	p.Cys347Tyr	VAR_013676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013676	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	160	cd07845	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	210_G	cd06628	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	203	cd05148	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	237	cd06638	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	204	cd06630	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	214	cd06632	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	195	cd05116	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	216	cd05044	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	210	cd05040	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	206	cd05086	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	210	cd05042	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	226	cd05060	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	435	cd00192	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	210_G	cd06629	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	211	cd05087	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	192	cd05085	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	204	cd06631	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	195	cd05041	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	193	cd05084	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	195	cd05115	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	198	cd05114	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	202	cd05112	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	199	cd05113	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	200	cd05059	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	212	cd06616	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	211	cd05110	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	235	cd05038	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	207_G	cd05065	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	208	cd05081	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	209	cd05079	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	205_G	cd05066	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	212	cd05039	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	251	cd05033	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	294	cd05574	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	211	cd05034	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	262	cd05057	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	211	cd05109	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	208	cd05111	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	208	cd05108	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	194	cd05083	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	263	cd05032	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	226	cd06618	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	224	cd06637	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	262	cd06614	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	241	cd06626	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	205	cd08224	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	211_G	cd06648	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	233	cd07851	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	229	cd05094	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	240	cd05095	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	231	cd05049	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	211	cd07858	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	236	cd05056	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	244	cd05048	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	256	cd05050	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	284	cd05046	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	230	cd05097	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	238	cd05061	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	217_G	cd07864	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	221	cd05092	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	201	cd05073	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	201	cd05072	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	200	cd05067	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	206	cd05068	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	196	cd05082	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	206	cd05064	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	202	cd05052	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	208	cd05063	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	218	cd05062	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	587	smart00219	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	349	pfam00069	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	394	pfam07714	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	225	cd07835	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	207	cd05080	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	272	cd07830	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	210	cd05118	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	252	cd07829	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	246	cd07838	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	864	smart00221	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	297	cd07840	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	222	cd05035	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	228	cd07865	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	209	cd06646	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	237	cd06639	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	239	cd05098	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	217	cd07850	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	210	cd06624	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	791	smart00220	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	250	cd05053	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	193_G	cd06640	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	201	cd07872	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	201	cd07873	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	200	cd07871	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	201	cd07844	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	217	cd06613	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	200	cd07870	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	191	cd06642	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	197	cd07839	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	198	cd07860	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	199_G	cd07861	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	207	cd07863	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	376	cd06606	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	235	cd07841	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	204	cd05614	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	226	cd05045	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	248	cd05122	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	203	cd07853	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	204	cd08530	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	200	cd07836	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	268	cd08215	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	206	cd08220	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	200	cd08529	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	320	cd08217	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	219	cd07832	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	207	cd05578	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	203_G	cd06651	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	206	cd05583	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	218	cd05613	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	214_G	cd07857	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	297	cd07834	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	320	cd07842	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	213	cd07880	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	214	cd07874	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	809	cd05123	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	771	cd05579	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	682	cd00180	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	233	cd05099	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	931	COG0515	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	255_G	cd06623	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	222	cd06622	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	216	cd07837	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	236	cd06610	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	216	cd06625	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	209_G	cd06917	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	195	cd05612	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	207	cd05597	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	199	cd07846	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	204	cd07847	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	214	cd05609	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	202	cd06617	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	197	cd06615	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	240	cd06609	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	227	cd06605	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	447	cd05581	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	221	cd05036	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	233	cd06612	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	229	cd05088	15451916,NP_001195
659	12643724	Disease	p.Cys420Arg	VAR_013677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013677	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	221	cd07845	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	263	cd06632	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	234	cd05116	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	255	cd05044	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	251	cd05040	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	250	cd05086	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	254	cd05042	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	502	cd00192	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	256	cd06629	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	234	cd05115	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	238	cd05113	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	239	cd05059	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	297	cd06616	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	277	cd05110	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	308	cd05038	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	247	cd05065	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	262	cd05081	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	262	cd05079	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	245	cd05066	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	338	cd05574	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	277	cd05108	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	310	cd06618	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	288	cd06626	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	254	cd06648	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	345	cd07851	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	284	cd05094	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	288	cd05095	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	273	cd05049	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	280	cd07858	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	297	cd05056	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	286	cd07864	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	260	cd05092	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	240	cd05072	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	265	cd05067	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	245	cd05068	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	682	smart00219	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	449	pfam00069	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	464	pfam07714	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	296	cd07835	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	260	cd05080	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	376	cd07830	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	291	cd05118	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	326	cd07829	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	335	cd07838	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	1081	smart00221	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	402	cd07840	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	262	cd05035	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	334	cd07865	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	277	cd06639	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	278	cd07850	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	1189	smart00220	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	236	cd06640	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	266	cd07872	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	278	cd07873	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	268	cd07871	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	277	cd07844	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	257	cd07870	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	236	cd06642	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	262	cd07839	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	260	cd07860	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	273	cd07861	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	271	cd07863	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	317	cd07841	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	245	cd05614	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	334	cd05122	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	263	cd07853	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	266	cd07836	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	276	cd05583	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	282	cd05613	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	307	cd07857	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	441	cd07834	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	436	cd07842	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	281	cd07880	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	271	cd07874	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	885	cd05123	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	839	cd00180	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	272	cd05099	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	1163	COG0515	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	321	cd06623	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	304	cd06622	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	282	cd07837	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	253	cd06917	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	262_G	cd05612	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	272	cd05597	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	287	cd07846	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	284	cd07847	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	281	cd05609	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	303	cd06615	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	510	cd05581	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	291	cd05088	15451916,NP_001195
659	12643724	Disease	p.Cys483Arg	VAR_013678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013678	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	296	cd07845	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	265	cd06632	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	236	cd05116	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	257	cd05044	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	253	cd05040	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	251_G	cd05086	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	255_G	cd05042	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	504	cd00192	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	258	cd06629	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	236	cd05115	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	240	cd05113	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	241	cd05059	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	299	cd06616	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	279	cd05110	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	310	cd05038	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	249	cd05065	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	264	cd05081	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	264	cd05079	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	247	cd05066	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	340	cd05574	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	279	cd05108	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	312	cd06618	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	290	cd06626	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	256	cd06648	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	347	cd07851	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	286	cd05094	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	290	cd05095	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	275	cd05049	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	282	cd07858	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	299	cd05056	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	288	cd07864	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	262	cd05092	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	242	cd05072	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	267	cd05067	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	247	cd05068	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	684	smart00219	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	451	pfam00069	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	466	pfam07714	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	298	cd07835	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	262	cd05080	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	378	cd07830	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	293	cd05118	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	335	cd07829	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	337	cd07838	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	404	cd07840	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	264	cd05035	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	336	cd07865	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	279	cd06639	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	280	cd07850	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	1191	smart00220	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	238	cd06640	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	268	cd07872	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	280	cd07873	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	270	cd07871	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	279	cd07844	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	259	cd07870	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	238	cd06642	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	264	cd07839	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	262	cd07860	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	275	cd07861	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	273	cd07863	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	319	cd07841	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	247	cd05614	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	336	cd05122	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	265	cd07853	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	268	cd07836	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	278	cd05583	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	290	cd05613	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	310	cd07857	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	443	cd07834	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	283	cd07880	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	274	cd07874	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	887	cd05123	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	841	cd00180	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	274	cd05099	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	1165	COG0515	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	323	cd06623	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	306	cd06622	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	284	cd07837	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	255	cd06917	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	264	cd05612	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	274	cd05597	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	289	cd07846	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	286	cd07847	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	283	cd05609	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	305	cd06615	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	512	cd05581	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	294	cd05088	15451916,NP_001195
659	12643724	Disease	p.Asp485Gly	VAR_013679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013679	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	298	cd07845	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	271	cd06632	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	242	cd05116	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	263	cd05044	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	259	cd05040	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	257	cd05086	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	261	cd05042	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	510	cd00192	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	265	cd06629	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	242	cd05115	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	246	cd05113	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	247	cd05059	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	285	cd05110	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	316	cd05038	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	255	cd05065	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	270	cd05081	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	270	cd05079	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	253	cd05066	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	346	cd05574	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	285	cd05108	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	296	cd06626	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	262	cd06648	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	353	cd07851	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	292	cd05094	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	296	cd05095	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	281	cd05049	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	288	cd07858	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	294	cd07864	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	268	cd05092	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	248	cd05072	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	273	cd05067	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	253	cd05068	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	690	smart00219	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	457	pfam00069	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	472	pfam07714	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	304	cd07835	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	268	cd05080	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	384	cd07830	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	299	cd05118	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	353	cd07829	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	343	cd07838	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	408	cd07840	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	270	cd05035	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	342	cd07865	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	285	cd06639	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	288	cd07850	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	1197	smart00220	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	244	cd06640	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	274	cd07872	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	286	cd07873	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	276	cd07871	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	285	cd07844	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	260	cd07870	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	244	cd06642	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	274	cd07839	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	272	cd07860	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	281	cd07861	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	279	cd07863	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	325	cd07841	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	253	cd05614	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	342	cd05122	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	271	cd07853	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	274	cd07836	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	284	cd05583	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	296	cd05613	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	316	cd07857	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	449	cd07834	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	289	cd07880	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	281	cd07874	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	912	cd05123	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	851	cd00180	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	280	cd05099	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	1171	COG0515	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	329	cd06623	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	312	cd06622	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	290	cd07837	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	261	cd06917	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	270	cd05612	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	280	cd05597	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	295	cd07846	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	292	cd07847	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	289	cd05609	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	313	cd06615	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	518	cd05581	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	300	cd05088	15451916,NP_001195
659	12643724	Disease	p.Arg491Gln	VAR_013680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013680	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	304	cd07845	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	271	cd06632	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	242	cd05116	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	263	cd05044	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	259	cd05040	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	257	cd05086	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	261	cd05042	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	510	cd00192	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	265	cd06629	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	242	cd05115	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	246	cd05113	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	247	cd05059	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	285	cd05110	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	316	cd05038	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	255	cd05065	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	270	cd05081	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	270	cd05079	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	253	cd05066	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	346	cd05574	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	285	cd05108	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	296	cd06626	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	262	cd06648	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	353	cd07851	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	292	cd05094	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	296	cd05095	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	281	cd05049	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	288	cd07858	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	294	cd07864	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	268	cd05092	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	248	cd05072	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	273	cd05067	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	253	cd05068	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	690	smart00219	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	457	pfam00069	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	472	pfam07714	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	304	cd07835	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	268	cd05080	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	384	cd07830	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	299	cd05118	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	353	cd07829	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	343	cd07838	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	408	cd07840	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	270	cd05035	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	342	cd07865	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	285	cd06639	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	288	cd07850	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	1197	smart00220	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	244	cd06640	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	274	cd07872	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	286	cd07873	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	276	cd07871	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	285	cd07844	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	260	cd07870	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	244	cd06642	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	274	cd07839	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	272	cd07860	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	281	cd07861	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	279	cd07863	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	325	cd07841	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	253	cd05614	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	342	cd05122	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	271	cd07853	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	274	cd07836	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	284	cd05583	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	296	cd05613	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	316	cd07857	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	449	cd07834	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	289	cd07880	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	281	cd07874	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	912	cd05123	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	851	cd00180	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	280	cd05099	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	1171	COG0515	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	329	cd06623	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	312	cd06622	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	290	cd07837	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	261	cd06917	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	270	cd05612	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	280	cd05597	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	295	cd07846	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	292	cd07847	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	289	cd05609	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	313	cd06615	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	518	cd05581	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	300	cd05088	15451916,NP_001195
659	12643724	Disease	p.Arg491Trp	VAR_013681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013681	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	304	cd07845	15451916,NP_001195
659	12643724	Disease	p.Lys512Thr	VAR_013682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013682	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	306	cd05108	15451916,NP_001195
659	12643724	Disease	p.Lys512Thr	VAR_013682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013682	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	313_G	cd05094	15451916,NP_001195
659	12643724	Disease	p.Lys512Thr	VAR_013682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013682	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	308	cd07858	15451916,NP_001195
659	12643724	Disease	p.Lys512Thr	VAR_013682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013682	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	310	cd07850	15451916,NP_001195
659	12643724	Disease	p.Lys512Thr	VAR_013682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013682	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	297	cd07872	15451916,NP_001195
659	12643724	Disease	p.Lys512Thr	VAR_013682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013682	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	282	cd07870	15451916,NP_001195
659	12643724	Disease	p.Lys512Thr	VAR_013682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013682	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	274	cd06642	15451916,NP_001195
659	12643724	Disease	p.Lys512Thr	VAR_013682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013682	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	278	cd05614	15451916,NP_001195
659	12643724	Disease	p.Lys512Thr	VAR_013682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013682	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	290	cd07853	15451916,NP_001195
659	12643724	Disease	p.Lys512Thr	VAR_013682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013682	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	511	cd07834	15451916,NP_001195
659	12643724	Disease	p.Lys512Thr	VAR_013682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013682	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	307	cd07880	15451916,NP_001195
659	12643724	Disease	p.Lys512Thr	VAR_013682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013682	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	301	cd07874	15451916,NP_001195
659	12643724	Disease	p.Lys512Thr	VAR_013682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013682	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	302	cd05099	15451916,NP_001195
659	12643724	Disease	p.Lys512Thr	VAR_013682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013682	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	1201	COG0515	15451916,NP_001195
659	12643724	Disease	p.Lys512Thr	VAR_013682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013682	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	301	cd05597	15451916,NP_001195
659	12643724	Disease	p.Lys512Thr	VAR_013682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013682	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	310	cd05609	15451916,NP_001195
659	12643724	Disease	p.Asn519Lys	VAR_013683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013683	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	313	cd05108	15451916,NP_001195
659	12643724	Disease	p.Asn519Lys	VAR_013683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013683	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	316	cd05094	15451916,NP_001195
659	12643724	Disease	p.Asn519Lys	VAR_013683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013683	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	314	cd07858	15451916,NP_001195
659	12643724	Disease	p.Asn519Lys	VAR_013683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013683	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	322	cd07850	15451916,NP_001195
659	12643724	Disease	p.Asn519Lys	VAR_013683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013683	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	304	cd07872	15451916,NP_001195
659	12643724	Disease	p.Asn519Lys	VAR_013683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013683	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	289	cd07870	15451916,NP_001195
659	12643724	Disease	p.Asn519Lys	VAR_013683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013683	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	285	cd05614	15451916,NP_001195
659	12643724	Disease	p.Asn519Lys	VAR_013683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013683	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	296	cd07853	15451916,NP_001195
659	12643724	Disease	p.Asn519Lys	VAR_013683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013683	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	518	cd07834	15451916,NP_001195
659	12643724	Disease	p.Asn519Lys	VAR_013683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013683	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	314	cd07880	15451916,NP_001195
659	12643724	Disease	p.Asn519Lys	VAR_013683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013683	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	315	cd07874	15451916,NP_001195
659	12643724	Disease	p.Asn519Lys	VAR_013683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013683	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	309	cd05099	15451916,NP_001195
659	12643724	Disease	p.Asn519Lys	VAR_013683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013683	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	1208	COG0515	15451916,NP_001195
659	12643724	Disease	p.Asn519Lys	VAR_013683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013683	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	308	cd05597	15451916,NP_001195
659	12643724	Disease	p.Asn519Lys	VAR_013683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013683	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	317	cd05609	15451916,NP_001195
659	12643724	Disease	p.Arg899Pro	VAR_033111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033111	- Primary pulmonary hypertension (PPH1) [MIM:178600]	SWISS	No Domain	N/A	15451916,NP_001195
673	50403720	Disease	p.Leu245Phe	VAR_058623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058623	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	pfam00130	33188459,NP_004324
673	50403720	Disease	p.Leu245Phe	VAR_058623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058623	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	21	smart00109	33188459,NP_004324
673	50403720	Disease	p.Leu245Phe	VAR_058623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058623	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd00029	33188459,NP_004324
673	50403720	Disease	p.Ala246Pro	VAR_026113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026113	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	pfam00130	33188459,NP_004324
673	50403720	Disease	p.Ala246Pro	VAR_026113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026113	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	22	smart00109	33188459,NP_004324
673	50403720	Disease	p.Ala246Pro	VAR_026113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026113	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd00029	33188459,NP_004324
673	50403720	Disease	p.Gln257Arg	VAR_026114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026114	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	pfam00130	33188459,NP_004324
673	50403720	Disease	p.Gln257Arg	VAR_026114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026114	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	smart00109	33188459,NP_004324
673	50403720	Disease	p.Gln257Arg	VAR_026114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026114	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	39	cd00029	33188459,NP_004324
673	50403720	Disease	p.Glu275Lys	VAR_058624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058624	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	pfam00130	33188459,NP_004324
673	50403720	Disease	p.Glu275Lys	VAR_058624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058624	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	91	smart00109	33188459,NP_004324
673	50403720	Disease	p.Glu275Lys	VAR_058624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058624	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd00029	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	27	cd05101	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd06633	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd06623	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd06622	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd07845	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd06621	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd06609	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd06619	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05612	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd06617	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd07871	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07862	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd07870	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07847	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd07844	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07842	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd07872	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05580	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd06615	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05573	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05609	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd07873	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd08228	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	COG0515	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd06605	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd08224	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd08229	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd06626	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07868	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07867	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05584	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd06632	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	24	cd05053	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05043	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	cd05035	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	cd05074	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	cd05075	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd07854	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	cd07835	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	smart00219	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	smart00221	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	cd05589	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd05080	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd06642	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd06641	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd06613	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd06640	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd06612	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd06639	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd06654	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05055	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	21	cd06646	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	21	cd06645	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	30	cd05098	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	27	cd06618	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	5	cd05608	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	5	cd05607	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	5	cd05579	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	5	cd05572	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	5	cd05585	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	5	cd00180	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	6	cd05606	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd08221	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	5	cd05577	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	6	cd05633	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07846	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	5	cd05123	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd07843	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07833	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd07834	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd06625	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	cd07830	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd07829	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd06917	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd05630	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05122	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd05632	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05105	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05107	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05064	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05063	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05094	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05093	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd06620	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05095	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05097	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05046	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05050	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	25	cd05051	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05096	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05049	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05090	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05091	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05048	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05092	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	30	cd05057	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd06652	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd08226	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd08216	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd06653	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd07852	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd06658	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd06614	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05106	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05061	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05052	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd07864	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	22	cd07856	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05083	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05148	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd07849	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05032	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05036	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd06637	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd06624	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05062	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd07858	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05073	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05039	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05034	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05082	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05070	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05072	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05067	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05068	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05069	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05056	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd05089	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05071	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd06616	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05115	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05104	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd07850	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	24	cd05100	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	24	cd05099	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05038	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd05033	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd05065	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd05079	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd05066	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd05113	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd05114	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd05112	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd05059	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05108	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05110	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05109	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05111	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd07869	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	27	cd07880	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	27	cd07851	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	30	cd06638	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	24	cd06644	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd06656	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd06655	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd06647	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05040	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd05081	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05086	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05058	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05042	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05078	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05037	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05077	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd00192	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05116	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05619	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05592	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05620	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	cd07831	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05571	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07837	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd05574	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05617	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd07839	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	cd05118	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd07840	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05594	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05570	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05593	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05595	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05602	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05582	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05604	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05084	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05044	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05041	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05087	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05085	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd08217	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05590	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05603	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05575	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05591	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05588	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05047	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05060	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd06643	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	21	cd07866	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd06608	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd06611	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	24	cd07865	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05581	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd06610	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05623	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd05045	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd05583	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd05613	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd06630	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd07859	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd07857	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd05605	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07841	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd06606	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd05631	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd07832	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd06629	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd05616	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd07836	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd07861	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd07860	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd07863	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd06651	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd06627	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd05614	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd05615	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd08225	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd08222	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd08219	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd06631	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd08215	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd08223	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd08530	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd08528	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd08218	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd06628	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd08220	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd05587	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd07853	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd05578	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	37	cd06635	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd06636	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	29	cd07877	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd06648	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd06659	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	cd07838	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd06657	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	27	cd06634	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	27	cd06607	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05103	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05102	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05088	33188459,NP_004324
673	50403720	Disease	p.Ser467Ala	VAR_035096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035096	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd08529	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd05101	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd06633	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd06623	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd06622	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd07845	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd06621	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd06609	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd06619	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd05612	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd06617	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd07871	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd07862	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd07870	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd07847	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd07844	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd07842	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd07872	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd05580	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd06615	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd05573	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd05609	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd07873	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd08228	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	COG0515	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd06605	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd08224	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd08229	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd06626	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd07868	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd07867	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05584	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd06632	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	25	cd05053	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05043	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd05035	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd05074	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd05075	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd07854	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd07835	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	smart00219	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	smart00221	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd05589	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05080	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd06642	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd06641	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd06613	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd06640	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd06612	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd06639	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd06654	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05055	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	22	cd06646	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	22	cd06645	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd05098	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd06618	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	6	cd05608	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	6	cd05607	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	6	cd05579	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	6	cd05572	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	6	cd05585	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	6	cd00180	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05606	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd08221	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	6	cd05577	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05633	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd07846	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	6	cd05123	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd07843	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd07833	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd07834	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd06625	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd07830	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07829	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd06917	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05630	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05122	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05632	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05105	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05107	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05064	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05063	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05094	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05093	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd06620	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05095	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05097	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05046	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05050	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	26	cd05051	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05096	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05049	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05090	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05091	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05048	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05092	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd05057	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd06652	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd08226	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd08216	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd06653	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd07852	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd06658	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd06614	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05106	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05061	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05052	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd07864	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	23	cd07856	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05083	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05148	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd07849	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	21	cd05032	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05036	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd06637	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	21	cd06624	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05062	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd07858	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05073	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05039	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05034	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05082	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05070	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05072	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05067	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05068	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05069	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05056	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd05089	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05071	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd06616	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05115	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd05104	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	29	cd07850	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	25	cd05100	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	25	cd05099	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05038	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05033	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05065	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05079	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05066	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05113	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05114	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05112	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05059	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05108	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05110	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05109	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05111	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd07869	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd07880	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd07851	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd06638	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	25	cd06644	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	2	smart00220	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd06656	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd06655	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd06647	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05040	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05081	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05086	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05058	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05042	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05078	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05037	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05077	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd00192	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05116	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05619	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05592	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05620	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd07831	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05571	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd07837	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd05574	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05617	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07839	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd05118	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd07840	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05594	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05570	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05593	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05595	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05602	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05582	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05604	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05084	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05044	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05041	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05087	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05085	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd08217	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05590	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05603	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05575	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05591	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05588	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05047	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05060	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd06643	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	22	cd07866	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd06608	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd06611	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	25	cd07865	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	21	cd05581	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd06610	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd05623	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05045	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05583	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05613	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd06630	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07859	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07857	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05605	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd07841	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd06606	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05631	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07832	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd06629	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05616	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07836	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07861	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07860	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07863	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd06651	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd06627	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05614	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05615	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd08225	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd08222	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd08219	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd06631	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd08215	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd08223	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd08530	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd08528	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd08218	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd06628	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd08220	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05587	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07853	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05578	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd06635	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	29	cd06636	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	30	cd07877	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd06648	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd06659	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd07838	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd06657	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd06634	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd06607	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05103	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05102	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05088	33188459,NP_004324
673	50403720	Disease	p.Phe468Ser	VAR_035097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035097	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd08529	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	29	cd05101	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd06633	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd06623	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd06622	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	21	cd07845	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd06621	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd06609	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd06619	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd05612	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd06617	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd07871	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd07862	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd07870	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd07847	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd07844	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd07842	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd07872	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd05580	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd06615	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd05573	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd05609	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd07873	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd08228	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	COG0515	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd06605	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd08224	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd08229	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd06626	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd07868	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd07867	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	10	cd05584	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd06632	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	26	cd05053	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	21	cd05043	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05035	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05074	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05075	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd07854	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07835	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	smart00219	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	smart00221	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05589	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05080	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd06642	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd06641	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd06613	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd06640	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd06612	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd06639	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd06654	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05055	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	23	cd06646	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	23	cd06645	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd05098	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	29	cd06618	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05608	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05607	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05579	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05572	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05585	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	10	cd00180	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05606	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd08221	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05577	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd05633	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd07846	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd05123	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd07843	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd07833	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd07834	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd06625	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07830	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd07829	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd06917	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd05630	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	21	cd05122	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd05632	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05105	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05107	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05064	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05063	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05094	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05093	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd06620	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05095	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05097	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05046	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05050	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	27	cd05051	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05096	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05049	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05090	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05091	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05048	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05092	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd05057	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd06652	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd08226	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd08216	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd06653	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	21	cd07852	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd06658	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd06614	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05106	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05061	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05052	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	21	cd07864	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	24	cd07856	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05083	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05148	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd07849	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	22	cd05032	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05036	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd06637	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	22	cd06624	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05062	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd07858	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05073	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05039	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05034	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05082	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05070	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05072	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05067	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05068	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05069	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05056	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd05089	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd05071	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd06616	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05115	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05104	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	30	cd07850	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	26	cd05100	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	26	cd05099	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd05038	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05033	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05065	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05079	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05066	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05113	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05114	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05112	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05059	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	21	cd05108	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	21	cd05110	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	21	cd05109	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	21	cd05111	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd07869	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	29	cd07880	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	29	cd07851	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd06638	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	26	cd06644	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	3	smart00220	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd06656	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd06655	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd06647	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05040	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05081	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05086	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05058	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05042	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05078	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05037	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05077	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd00192	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05116	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05619	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05592	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05620	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07831	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05571	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd07837	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	18	cd05574	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05617	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd07839	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd05118	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	17	cd07840	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05594	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05570	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05593	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05595	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05602	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	10	cd05582	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05604	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05084	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05044	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05041	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05087	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05085	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd08217	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05590	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05603	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05575	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05591	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05588	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05047	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd05060	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd06643	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	23	cd07866	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	20	cd06608	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	19	cd06611	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	26	cd07865	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	22	cd05581	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd06610	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd05623	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd05045	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd05583	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd05613	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd06630	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd07859	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd07857	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd05605	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd07841	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	21	cd06606	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd05631	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd07832	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd06629	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd05616	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd07836	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd07861	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd07860	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd07863	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	16	cd06651	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	15	cd06627	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd05614	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd05615	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd08225	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd08222	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd08219	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd06631	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd08215	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd08223	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd08530	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd08528	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd08218	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd06628	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd08220	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd05587	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd07853	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd05578	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	39	cd06635	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	30	cd06636	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd07877	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd06648	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd06659	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd07838	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd06657	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	29	cd06634	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	29	cd06607	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	21	cd05103	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	21	cd05102	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	21	cd05088	33188459,NP_004324
673	50403720	Disease	p.Gly469Glu	VAR_018621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018621	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	14	cd08529	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd05101	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd06633	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd06623	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd06622	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd07845	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd06621	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd06609	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd06619	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd05612	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd06617	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd07871	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd07862	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd07870	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd07847	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd07844	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	46	cd07842	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	39	cd07872	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	81	cd05580	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd06615	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05573	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd05609	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	39	cd07873	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd08228	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	200	COG0515	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd06605	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd08224	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd08229	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd06626	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd07868	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd07867	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd05584	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd06632	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05053	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05043	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05035	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd05074	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd05075	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd07854	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd07835	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	131	smart00219	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	smart00221	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd05589	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41	cd05080	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	37	cd06642	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	37	cd06641	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd06613	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	37	cd06640	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd06612	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd06639	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd06654	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05055	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd06646	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	39	cd06645	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd05098	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd06618	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	26	cd05608	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	26	cd05607	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	26	cd05579	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05572	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	23	cd05585	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd00180	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	27	cd05606	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd08221	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	26	cd05577	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	27	cd05633	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd07846	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	29	cd05123	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	37_G	cd07843	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	37	cd07833	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd07834	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd06625	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd07830	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd07829	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd06917	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd05630	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd05122	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd05632	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05105	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05107	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41	cd05064	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd05063	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05094	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05093	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd06620	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05095	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd05097	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	103	cd05046	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05050	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd05051	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd05096	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05049	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd05090	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05091	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd05048	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05092	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd05057	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd06652	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd08226	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd08216	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd06653	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41	cd07852	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd06658	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd06614	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	77	cd05106	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd05061	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	39	cd05052	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd07864	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd07856	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	37	cd05083	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	39	cd05148	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd07849	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05032	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd05036	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd06637	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	39	cd06624	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd05062	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	39	cd07858	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd05073	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	37	cd05039	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd05034	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	37	cd05082	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd05070	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd05072	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd05067	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd05068	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd05069	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd05056	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	37	cd05089	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd05071	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	37	cd06616	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	30	cd05115	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd05104	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd07850	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05100	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05099	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05038	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd05033	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	40	cd05065	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41	cd05079	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	40	cd05066	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd05113	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd05114	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd05112	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd05059	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd05108	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd05110	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd05109	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd05111	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd07869	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd07880	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd07851	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd06638	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd06644	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	79	smart00220	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06656	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06655	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06647	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd05040	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41	cd05081	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	30	cd05086	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd05058	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd05042	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd05078	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05037	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	37	cd05077	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd00192	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	30	cd05116	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd05619	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd05592	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd05620	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd07831	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd05571	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd07837	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41	cd05574	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	25	cd05617	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd07839	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd05118	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd07840	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd05594	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd05570	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd05593	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd05595	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd05602	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd05582	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd05604	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd05084	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd05044	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd05041	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	30	cd05087	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd05085	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd08217	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd05590	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd05603	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd05575	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	28	cd05591	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	25	cd05588	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	30	cd05047	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd05060	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd06643	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd07866	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	40	cd06608	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	39	cd06611	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	46	cd07865	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	79	cd05581	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd06610	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd05623	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd05045	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd05583	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd05613	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	37	cd06630	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd07859	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34_G	cd07857	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd05605	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd07841	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	46	cd06606	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd05631	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd07832	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd06629	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd05616	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd07836	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd07861	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd07860	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd07863	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd06651	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd06627	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd05614	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd05615	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd08225	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	37	cd08222	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd08219	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd06631	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd08215	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd08223	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd08530	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd08528	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd08218	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd06628	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd08220	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd05587	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd07853	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd05578	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd06635	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd06636	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd07877	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06648	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd06659	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd07838	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd06657	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd06634	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd06607	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05103	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05102	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd05088	33188459,NP_004324
673	50403720	Disease	p.Leu485Phe	VAR_026115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026115	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd08529	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd05101	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd06633	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd06623	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd06622	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd07845	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd06621	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd06609	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68_G	cd06619	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05612	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47_G	cd06617	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd07871	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd07862	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd07870	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd07847	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd07844	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	114	cd07842	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd07872	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	96	cd05580	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47_G	cd06615	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd05573	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05609	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd07873	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd08228	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	277	COG0515	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd06605	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd08224	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd08229	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd06626	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd07868	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd07867	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05584	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd06632	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd05053	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd05043	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05035	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05074	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd05075	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd07854	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd07835	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	176	smart00219	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	81	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	242	smart00221	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05589	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd05080	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd06642	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd06641	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd06613	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd06640	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd06612	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd06639	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd06654	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	88	cd05055	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd06646	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd06645	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05098	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd06618	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41	cd05608	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	40	cd05607	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd05579	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	90	cd05572	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41	cd05585	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	136	cd00180	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41	cd05606	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd08221	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41_G	cd05577	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41	cd05633	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd07846	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd05123	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd07843	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd07833	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd07834	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06625	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	81	cd07830	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd07829	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd06917	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05630	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	63	cd05122	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd05632	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	88	cd05105	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	88	cd05107	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd05064	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd05063	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd05094	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd05093	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06620	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd05095	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05097	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	116	cd05046	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd05050	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	89	cd05051	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05096	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd05049	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd05090	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd05091	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05048	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd05092	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	106	cd05057	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06652	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd08226	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd08216	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06653	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	46	cd07852	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd06658	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd06614	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	90	cd05106	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05061	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05052	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd07864	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd07856	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05083	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05148	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd07849	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	88	cd05032	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05036	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd06637	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd06624	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05062	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd07858	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05073	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05039	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05034	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05082	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05070	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05072	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05067	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05068	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05069	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	84	cd05056	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05089	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05071	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd06616	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd05115	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	86	cd05104	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd07850	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd05100	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd05099	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd05038	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	77	cd05033	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd05065	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd05079	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd05066	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05113	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05114	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05112	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05059	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05108	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05110	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05109	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05111	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd07869	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd07880	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd07851	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd06638	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd06644	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	smart00220	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd06656	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd06655	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd06647	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05040	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd05081	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05086	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05058	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	46	cd05042	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05078	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd05037	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05077	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	98	cd00192	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd05116	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05619	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05592	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05620	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45_G	cd07831	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd05571	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd07837	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd05574	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd05617	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd07839	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05118	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd07840	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd05594	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05570	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd05593	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd05595	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05602	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	46	cd05582	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05604	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41	cd05084	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05044	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd05041	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05087	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41	cd05085	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd08217	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05590	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05603	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05575	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05591	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05588	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05047	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05060	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd06643	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd07866	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd06608	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd06611	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd07865	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	95	cd05581	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd06610	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05623	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05045	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05583	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05613	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd06630	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd07859	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	40	cd07857	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05605	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41	cd07841	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	109	cd06606	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05631	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd07832	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd06629	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05616	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd07836	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd07861	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd07860	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd07863	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06651	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06627	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05614	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05615	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd08225	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd08222	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	46	cd08219	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd06631	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd08215	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd08223	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd08530	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd08528	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd08218	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd06628	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd08220	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05587	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd07853	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd05578	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd06635	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd06636	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd07877	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	63	cd06648	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd06659	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd07838	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd06657	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	63	cd06634	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	63	cd06607	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd05103	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd05102	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd05088	33188459,NP_004324
673	50403720	Disease	p.Lys499Glu	VAR_026116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026116	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd08529	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd05101	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd06633	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd06623	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd06622	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd07845	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd06621	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd06609	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68_G	cd06619	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05612	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47_G	cd06617	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd07871	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd07862	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd07870	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd07847	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd07844	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	114	cd07842	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd07872	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	96	cd05580	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47_G	cd06615	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd05573	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05609	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd07873	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd08228	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	277	COG0515	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd06605	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd08224	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd08229	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd06626	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd07868	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd07867	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05584	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd06632	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd05053	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd05043	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05035	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05074	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd05075	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd07854	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd07835	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	176	smart00219	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	81	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	242	smart00221	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05589	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd05080	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd06642	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd06641	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd06613	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd06640	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd06612	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd06639	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd06654	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	88	cd05055	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd06646	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd06645	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05098	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd06618	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41	cd05608	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	40	cd05607	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd05579	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	90	cd05572	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41	cd05585	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	136	cd00180	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41	cd05606	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd08221	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41_G	cd05577	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41	cd05633	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd07846	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd05123	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd07843	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd07833	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd07834	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06625	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	81	cd07830	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd07829	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd06917	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05630	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	63	cd05122	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd05632	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	88	cd05105	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	88	cd05107	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd05064	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd05063	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd05094	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd05093	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06620	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd05095	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05097	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	116	cd05046	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd05050	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	89	cd05051	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05096	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd05049	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd05090	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd05091	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05048	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd05092	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	106	cd05057	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06652	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd08226	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd08216	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06653	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	46	cd07852	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd06658	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd06614	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	90	cd05106	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05061	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05052	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd07864	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd07856	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05083	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05148	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd07849	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	88	cd05032	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05036	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd06637	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd06624	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05062	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd07858	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05073	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05039	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05034	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05082	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05070	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05072	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05067	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05068	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05069	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	84	cd05056	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05089	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05071	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd06616	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd05115	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	86	cd05104	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd07850	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd05100	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd05099	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd05038	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	77	cd05033	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd05065	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd05079	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd05066	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05113	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05114	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05112	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05059	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05108	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05110	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05109	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05111	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd07869	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd07880	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd07851	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd06638	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd06644	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	smart00220	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd06656	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd06655	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd06647	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05040	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd05081	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05086	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05058	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	46	cd05042	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05078	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd05037	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05077	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	98	cd00192	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd05116	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05619	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05592	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05620	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45_G	cd07831	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd05571	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd07837	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd05574	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd05617	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd07839	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05118	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd07840	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd05594	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05570	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd05593	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd05595	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05602	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	46	cd05582	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05604	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41	cd05084	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05044	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd05041	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05087	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41	cd05085	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd08217	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05590	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05603	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05575	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05591	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05588	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05047	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05060	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd06643	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd07866	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd06608	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd06611	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd07865	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	95	cd05581	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd06610	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05623	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05045	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05583	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05613	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd06630	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd07859	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	40	cd07857	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05605	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	41	cd07841	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	109	cd06606	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05631	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd07832	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd06629	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05616	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd07836	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd07861	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd07860	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd07863	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06651	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06627	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05614	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05615	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd08225	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd08222	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	46	cd08219	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd06631	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd08215	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd08223	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd08530	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd08528	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd08218	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd06628	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd08220	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05587	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd07853	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd05578	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd06635	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd06636	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd07877	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	63	cd06648	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd06659	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd07838	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd06657	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	63	cd06634	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	63	cd06607	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd05103	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd05102	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd05088	33188459,NP_004324
673	50403720	Disease	p.Lys499Asn	VAR_058625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd08529	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd05101	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd06633	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd06623	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd06622	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd07845	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06621	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd06609	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd06619	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05612	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd06617	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd07871	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd07862	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd07870	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd07847	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd07844	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd07842	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd07872	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	98	cd05580	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd06615	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd05573	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05609	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd07873	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd08228	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	279	COG0515	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd06605	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd08224	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd08229	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06626	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd07868	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd07867	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd05584	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd06632	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05053	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	72	cd05043	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	61	cd05035	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05074	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05075	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd07854	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd07835	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	78	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	smart00219	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	84	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	244	smart00221	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05589	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd05080	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06642	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06641	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06613	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06640	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd06612	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd06639	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd06654	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	90	cd05055	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd06646	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd06645	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd05098	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	63	cd06618	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05608	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05607	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd05579	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	92	cd05572	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05585	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	138	cd00180	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd05606	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd08221	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05577	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd05633	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd07846	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	72	cd05123	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd07843	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd07833	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd07834	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd06625	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	82	cd07830	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd07829	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd06917	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05630	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd05122	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05632	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	90	cd05105	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	90	cd05107	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd05064	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05063	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05094	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05093	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd06620	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	72	cd05095	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd05097	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	118	cd05046	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd05050	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	91	cd05051	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd05096	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd05049	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05090	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd05091	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05048	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05092	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	108	cd05057	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd06652	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd08226	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd08216	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd06653	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd07852	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd06658	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	78	cd06614	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	92	cd05106	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05061	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05052	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd07864	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd07856	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05083	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd05148	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd07849	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	90	cd05032	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05036	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06637	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd06624	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05062	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd07858	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05073	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd05039	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05034	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05082	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05070	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05072	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05067	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05068	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05069	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	86	cd05056	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05089	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05071	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd06616	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05115	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	88	cd05104	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd07850	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05100	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05099	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd05038	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	79	cd05033	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd05065	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd05079	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd05066	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05113	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05114	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05112	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05059	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05108	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05110	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05109	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05111	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd07869	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd07880	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd07851	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd06638	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd06644	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	162	smart00220	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd06656	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd06655	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd06647	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05040	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd05081	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05086	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd05058	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd05042	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05078	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd05037	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd05077	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	100	cd00192	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	46	cd05116	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05619	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05592	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05620	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd07831	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05571	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd07837	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd05574	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd05617	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd07839	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05118	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd07840	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05594	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05570	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05593	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05595	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05602	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd05582	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05604	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05084	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05044	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd05041	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05087	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05085	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd08217	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05590	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05603	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05575	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05591	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05588	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05047	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05060	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06643	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd07866	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	77	cd06608	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd06611	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd07865	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	97	cd05581	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd06610	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05623	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd05045	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd05583	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd05613	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd06630	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd07859	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd07857	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05605	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	63	cd07841	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	111	cd06606	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05631	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd07832	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd06629	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05616	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd07836	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd07861	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd07860	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd07863	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd06651	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd06627	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd05614	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05615	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd08225	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd08222	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd08219	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06631	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd08215	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd08223	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd08530	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd08528	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd08218	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd06628	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd08220	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05587	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd07853	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05578	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd06635	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd06636	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd07877	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd06648	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd06659	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd07838	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd06657	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd06634	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd06607	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd05103	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd05102	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05088	33188459,NP_004324
673	50403720	Disease	p.Glu501Gly	VAR_026117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026117	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd08529	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd05101	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd06633	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd06623	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd06622	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd07845	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06621	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd06609	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd06619	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05612	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd06617	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd07871	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd07862	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd07870	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd07847	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd07844	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd07842	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd07872	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	98	cd05580	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd06615	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd05573	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05609	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd07873	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd08228	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	279	COG0515	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd06605	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd08224	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd08229	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06626	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd07868	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd07867	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd05584	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd06632	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05053	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	72	cd05043	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	61	cd05035	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05074	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05075	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd07854	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd07835	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	78	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	smart00219	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	84	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	244	smart00221	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05589	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd05080	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06642	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06641	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06613	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06640	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd06612	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd06639	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd06654	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	90	cd05055	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd06646	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd06645	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd05098	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	63	cd06618	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05608	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05607	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd05579	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	92	cd05572	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05585	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	138	cd00180	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd05606	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd08221	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05577	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd05633	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd07846	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	72	cd05123	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd07843	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd07833	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd07834	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd06625	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	82	cd07830	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd07829	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd06917	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05630	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd05122	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05632	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	90	cd05105	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	90	cd05107	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd05064	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05063	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05094	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05093	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd06620	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	72	cd05095	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd05097	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	118	cd05046	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd05050	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	91	cd05051	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd05096	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd05049	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05090	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd05091	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05048	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05092	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	108	cd05057	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd06652	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd08226	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd08216	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd06653	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd07852	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd06658	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	78	cd06614	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	92	cd05106	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05061	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05052	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd07864	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd07856	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05083	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd05148	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd07849	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	90	cd05032	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05036	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06637	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd06624	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05062	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd07858	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05073	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd05039	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05034	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05082	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05070	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05072	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05067	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05068	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05069	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	86	cd05056	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05089	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05071	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd06616	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05115	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	88	cd05104	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd07850	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05100	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05099	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd05038	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	79	cd05033	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd05065	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd05079	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd05066	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05113	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05114	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05112	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05059	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05108	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05110	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05109	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05111	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd07869	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd07880	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd07851	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd06638	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd06644	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	162	smart00220	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd06656	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd06655	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd06647	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05040	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd05081	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05086	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd05058	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd05042	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05078	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd05037	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd05077	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	100	cd00192	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	46	cd05116	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05619	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05592	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd05620	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	47	cd07831	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05571	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd07837	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd05574	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd05617	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd07839	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05118	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd07840	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05594	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05570	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05593	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05595	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05602	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd05582	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05604	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05084	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd05044	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	44	cd05041	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05087	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	43	cd05085	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd08217	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05590	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05603	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05575	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05591	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05588	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	45	cd05047	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05060	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06643	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd07866	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	77	cd06608	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd06611	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd07865	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	97	cd05581	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd06610	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd05623	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd05045	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd05583	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd05613	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd06630	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd07859	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	42	cd07857	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05605	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	63	cd07841	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	111	cd06606	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05631	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd07832	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd06629	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05616	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd07836	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd07861	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd07860	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd07863	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd06651	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd06627	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd05614	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05615	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd08225	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd08222	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	48	cd08219	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd06631	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd08215	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd08223	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd08530	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd08528	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd08218	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd06628	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	51	cd08220	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	52	cd05587	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	49	cd07853	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd05578	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd06635	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd06636	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd07877	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd06648	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd06659	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd07838	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd06657	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd06634	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd06607	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd05103	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd05102	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd05088	33188459,NP_004324
673	50403720	Disease	p.Glu501Lys	VAR_026118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026118	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd08529	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	96	cd05101	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	95	cd06633	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	99	cd06623	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd06622	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	80	cd07845	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	79	cd06621	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	90	cd06609	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	95	cd06619	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd05612	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd06617	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	78	cd07871	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	84	cd07862	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	78	cd07870	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd07847	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	78	cd07844	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	171	cd07842	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	79	cd07872	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	124	cd05580	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd06615	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	130	cd05573	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd05609	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	79	cd07873	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	77	cd08228	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	423	COG0515	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	79	cd06605	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	78	cd08224	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	77	cd08229	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	83_G	cd06626	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd07868	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd07867	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	79	cd05584	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	94	cd06632	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	93	cd05053	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	109	cd05043	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	85	cd05035	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	79	cd05074	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	81	cd05075	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	84	cd07854	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	81	cd07835	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	129	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	239	smart00219	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	126	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	367	smart00221	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	77	cd05589	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	83	cd05080	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	77	cd06642	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	77	cd06641	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	77	cd06613	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	77	cd06640	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	86	cd06612	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	106	cd06639	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	92	cd06654	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	117	cd05055	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	81	cd06646	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	81	cd06645	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	100	cd05098	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	89	cd06618	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd05608	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd05607	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd05579	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	117	cd05572	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd05585	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	242	cd00180	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd05606	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd08221	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05577	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	72	cd05633	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd07846	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	109	cd05123	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	89	cd07843	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	97	cd07833	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	118	cd07834	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	81	cd06625	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	115	cd07830	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	102	cd07829	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	83	cd06917	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05630	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	99	cd05122	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05632	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	116	cd05105	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	116	cd05107	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	81	cd05064	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	82	cd05063	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	82	cd05094	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	82	cd05093	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	80	cd06620	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	97	cd05095	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	94	cd05097	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	143	cd05046	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	95	cd05050	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	117	cd05051	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	94	cd05096	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	85	cd05049	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	82	cd05090	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	83	cd05091	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	84	cd05048	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	82	cd05092	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	133	cd05057	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	81	cd06652	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd08226	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd08216	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	81	cd06653	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd07852	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	94	cd06658	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	105	cd06614	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	118	cd05106	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	85	cd05061	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	77	cd05052	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	80	cd07864	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	83	cd07856	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd05083	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	78	cd05148	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd07849	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	118	cd05032	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	85	cd05036	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	84	cd06637	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	85	cd06624	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	85	cd05062	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	79	cd07858	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd05073	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	79	cd05039	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd05034	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05082	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05070	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd05072	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05067	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd05068	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05069	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	110	cd05056	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	78	cd05089	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05071	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	77_G	cd06616	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd05115	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	115	cd05104	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	88_G	cd07850	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	93	cd05100	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	94	cd05099	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	93	cd05038	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	104	cd05033	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	80	cd05065	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	83	cd05079	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	80	cd05066	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd05113	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd05114	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd05112	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd05059	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	83	cd05108	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	83	cd05110	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	83	cd05109	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	83	cd05111	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	78	cd07869	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	89	cd07880	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	95	cd07851	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	95	cd06638	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	84	cd06644	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	296	smart00220	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	91	cd06656	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	91	cd06655	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	91	cd06647	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05040	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	82	cd05081	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05086	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	77	cd05058	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd05042	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd05078	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	91	cd05037	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	78	cd05077	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	137	cd00192	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd05116	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05619	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05592	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05620	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd07831	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd05571	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	88	cd07837	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	96	cd05574	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05617	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd07839	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	83	cd05118	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	118	cd07840	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd05594	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd05570	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd05593	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd05595	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05602	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd05582	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05604	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd05084	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05044	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd05041	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05087	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd05085	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd08217	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05590	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05603	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05575	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05591	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05588	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05047	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05060	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	77	cd06643	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	84	cd07866	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	102	cd06608	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	79	cd06611	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	99	cd07865	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	127	cd05581	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd06610	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd05623	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	79	cd05045	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	80	cd05583	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	80	cd05613	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	78	cd06630	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	79	cd07859	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd07857	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05605	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	90	cd07841	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd06606	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05631	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	87	cd07832	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	83	cd06629	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd05616	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd07836	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd07861	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd07860	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	82	cd07863	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	81	cd06651	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	80	cd06627	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	80	cd05614	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd05615	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd08225	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	78	cd08222	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd08219	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	79	cd06631	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	101	cd08215	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd08223	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	77	cd08530	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	93	cd08528	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd08218	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	83	cd06628	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd08220	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	81	cd05587	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd07853	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05578	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	99	cd06635	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	94	cd06636	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	85	cd07877	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	91	cd06648	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	93	cd06659	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	99	cd07838	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	92	cd06657	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	89	cd06634	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	89	cd06607	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	87	cd05103	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	87	cd05102	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	83	cd05088	33188459,NP_004324
673	50403720	Disease	p.Leu525Pro	VAR_058626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058626	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	79	cd08529	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	167	cd05101	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd06633	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd06623	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd06622	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd07845	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd06621	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd06609	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd06619	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	131	cd05612	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	135	cd06617	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	133	cd07871	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd07862	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	133	cd07870	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	136	cd07847	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	134	cd07844	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	234	cd07842	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	134	cd07872	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	184	cd05580	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	132	cd06615	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	187	cd05573	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	131	cd05609	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	134	cd07873	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	136	cd08228	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	587	COG0515	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd06605	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	137	cd08224	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	136	cd08229	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	132	cd06626	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	138	cd07868	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	138	cd07867	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	134	cd05584	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd06632	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	180	cd05053	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	172	cd05043	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05035	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	143	cd05074	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd05075	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd07854	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd07835	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	221	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	427	smart00219	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	286	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	542	smart00221	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	131	cd05589	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	137	cd05080	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	131	cd06642	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	131	cd06641	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	133	cd06613	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	131	cd06640	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd06612	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	165	cd06639	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd06654	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	269	cd05055	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	136	cd06646	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	136	cd06645	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	170	cd05098	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd06618	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	127	cd05608	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	125	cd05607	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	126	cd05579	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	198	cd05572	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	123	cd05585	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	371	cd00180	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	128	cd05606	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	132	cd08221	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	130	cd05577	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	127	cd05633	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	131	cd07846	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	646	cd05123	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd07843	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd07833	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	173	cd07834	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	136	cd06625	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	182	cd07830	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	170	cd07829	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd06917	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	132	cd05630	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd05122	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	132	cd05632	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	270	cd05105	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	272	cd05107	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	137	cd05064	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	138	cd05063	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05094	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05093	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	136	cd06620	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	171	cd05095	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	161	cd05097	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	216	cd05046	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	163	cd05050	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	191	cd05051	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	186	cd05096	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd05049	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd05090	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd05091	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd05048	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd05092	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	192	cd05057	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd06652	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	131	cd08226	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	133	cd08216	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	136	cd06653	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	139	cd07852	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd06658	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	182	cd06614	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	252	cd05106	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05061	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	134	cd05052	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd07864	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	138	cd07856	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	130	cd05083	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	135	cd05148	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd07849	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	194	cd05032	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd05036	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141	cd06637	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	143	cd06624	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd05062	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	139	cd07858	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	133	cd05073	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	136	cd05039	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	133	cd05034	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	132	cd05082	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	132	cd05070	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	133	cd05072	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	132	cd05067	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	135	cd05068	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	132	cd05069	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	166	cd05056	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd05089	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	132	cd05071	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	smart00750	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd06616	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	125	cd05115	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	254	cd05104	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd07850	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd05100	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd05099	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	158	cd05038	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168	cd05033	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	136	cd05065	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	139	cd05079	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	136	cd05066	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	131	cd05113	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	130	cd05114	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	130	cd05112	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	132	cd05059	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	139	cd05108	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	139	cd05110	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	139	cd05109	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	139	cd05111	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	133	cd07869	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd07880	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd07851	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd06638	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd06644	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	432	smart00220	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd06656	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd06655	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd06647	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	134	cd05040	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	138	cd05081	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	130	cd05086	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	135	cd05058	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	133	cd05042	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	132	cd05078	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd05037	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	135	cd05077	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	339	cd00192	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	125	cd05116	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	126	cd05619	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141	cd05592	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141	cd05620	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	131	cd07831	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	126	cd05571	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd07837	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05574	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	126	cd05617	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	129	cd07839	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	139	cd05118	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	179	cd07840	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	126	cd05594	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	128	cd05570	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	125	cd05593	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	125	cd05595	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	126	cd05602	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	128	cd05582	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	126	cd05604	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	124	cd05084	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd05044	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	126	cd05041	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	135	cd05087	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	124	cd05085	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	162	cd08217	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	126	cd05590	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	126	cd05603	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	126	cd05575	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	126	cd05591	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	126	cd05588	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	142	cd05047	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	132	cd05060	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	133	cd06643	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	161	cd07866	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	173	cd06608	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	135	cd06611	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd07865	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	246	cd05581	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	142	cd06610	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	132	cd05623	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd05045	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	135	cd05583	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd05613	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	133	cd06630	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	133	cd07859	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	139	cd07857	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	132	cd05605	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd07841	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	211	cd06606	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	132	cd05631	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd07832	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd06629	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	131	cd05616	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	133	cd07836	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	132	cd07861	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	130	cd07860	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141	cd07863	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	136	cd06651	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	137	cd06627	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	135	cd05614	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	131	cd05615	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	131	cd08225	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	137	cd08222	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	130	cd08219	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	134	cd06631	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	173	cd08215	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	132	cd08223	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	136	cd08530	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd08528	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	131	cd08218	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	138	cd06628	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd08220	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	136	cd05587	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	134	cd07853	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	131	cd05578	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd06635	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd06636	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd07877	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd06648	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd06659	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd07838	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd06657	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd06634	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd06607	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	210	cd05103	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	208	cd05102	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd05088	33188459,NP_004324
673	50403720	Disease	p.Asn581Asp	VAR_026119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026119	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	136	cd08529	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	181	cd05101	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	165	cd06633	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	193	cd06623	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd06622	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	165	cd07845	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd06621	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168	cd06609	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd06619	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd05612	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd06617	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd07871	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd07862	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd07870	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd07847	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd07844	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	254	cd07842	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd07872	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	198	cd05580	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd06615	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	201	cd05573	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd05609	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd07873	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd08228	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	664	COG0515	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	163	cd06605	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd08224	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd08229	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd06626	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd07868	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd07867	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd05584	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	163	cd06632	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	194	cd05053	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	189	cd05043	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	167	cd05035	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd05074	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	171	cd05075	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	171	cd07854	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	171	cd07835	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	255	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	457	smart00219	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	319	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	622	smart00221	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd05589	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd05080	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd06642	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd06641	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd06613	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd06640	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd06612	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	179	cd06639	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd06654	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	283	cd05055	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd06646	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd06645	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	184	cd05098	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	163	cd06618	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141	cd05608	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	139	cd05607	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd05579	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	212	cd05572	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	137	cd05585	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	444	cd00180	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	142	cd05606	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd08221	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd05577	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141	cd05633	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd07846	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	660	cd05123	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	163	cd07843	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	171	cd07833	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	190	cd07834	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd06625	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	220	cd07830	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	194	cd07829	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd06917	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05630	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	179	cd05122	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05632	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	284	cd05105	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	286	cd05107	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd05064	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd05063	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	167	cd05094	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd05093	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd06620	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	185	cd05095	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	175	cd05097	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	230	cd05046	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	177	cd05050	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	209	cd05051	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	211	cd05096	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	176	cd05049	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168	cd05090	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168	cd05091	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	171	cd05048	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	166	cd05092	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	206	cd05057	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	174	cd06652	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd08226	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd08216	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd06653	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd07852	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	162	cd06658	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	196	cd06614	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	266	cd05106	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd05061	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd05052	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	162	cd07864	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd07856	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd05083	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd05148	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd07849	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	208	cd05032	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	165	cd05036	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd06637	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	158	cd06624	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	163	cd05062	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd07858	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd05073	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05039	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd05034	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05082	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05070	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd05072	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05067	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd05068	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05069	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	180	cd05056	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	163	cd05089	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05071	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	smart00750	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd06616	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	139	cd05115	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	268	cd05104	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd07850	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd05100	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd05099	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	176	cd05038	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	182	cd05033	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05065	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05079	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05066	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd05113	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd05114	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd05112	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05059	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05108	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05110	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05109	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05111	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd07869	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	162	cd07880	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd07851	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168	cd06638	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd06644	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	529	smart00220	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd06656	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd06655	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd06647	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd05040	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd05081	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd05086	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd05058	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd05042	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd05078	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	171	cd05037	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd05077	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	364	cd00192	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	139	cd05116	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd05619	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd05592	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd05620	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd07831	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd05571	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	163	cd07837	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	176	cd05574	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd05617	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	143	cd07839	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05118	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	194	cd07840	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd05594	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	142	cd05570	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	139	cd05593	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	139	cd05595	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd05602	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	142	cd05582	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd05604	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	138	cd05084	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	161	cd05044	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd05041	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd05087	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	138	cd05085	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	215	cd08217	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd05590	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd05603	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd05575	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd05591	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd05588	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd05047	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05060	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd06643	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	175	cd07866	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	187	cd06608	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd06611	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168	cd07865	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	260	cd05581	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd06610	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05623	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	171	cd05045	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd05583	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	162	cd05613	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd06630	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd07859	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd07857	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05605	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	161	cd07841	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	234	cd06606	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05631	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd07832	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd06629	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd05616	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd07836	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd07861	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd07860	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd07863	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd06651	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd06627	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd05614	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd05615	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd08225	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd08222	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd08219	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd06631	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	204	cd08215	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd08223	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd08530	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	167	cd08528	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd08218	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd06628	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd08220	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05587	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd07853	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd05578	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	169	cd06635	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	165	cd06636	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd07877	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd06648	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	161	cd06659	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	171	cd07838	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd06657	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd06634	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd06607	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	224	cd05103	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	222	cd05102	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168	cd05088	33188459,NP_004324
673	50403720	Disease	p.Phe595Leu	VAR_018625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018625	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd08529	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	182	cd05101	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	166	cd06633	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	194	cd06623	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	161	cd06622	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	166	cd07845	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd06621	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	169	cd06609	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	161	cd06619	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05612	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd06617	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd07871	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd07862	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd07870	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd07847	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd07844	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	255	cd07842	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd07872	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	199	cd05580	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd06615	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	202	cd05573	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05609	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd07873	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd08228	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	665	COG0515	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd06605	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd08224	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd08229	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd06626	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd07868	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd07867	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd05584	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd06632	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	195	cd05053	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	190	cd05043	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168	cd05035	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	158	cd05074	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	172	cd05075	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	172	cd07854	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	172	cd07835	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	256	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	458	smart00219	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	320	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	623	smart00221	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05589	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd05080	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd06642	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd06641	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd06613	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd06640	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd06612	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	180	cd06639	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	161	cd06654	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	284	cd05055	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd06646	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd06645	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	185	cd05098	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd06618	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	142	cd05608	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd05607	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141	cd05579	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	213	cd05572	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	138	cd05585	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	445	cd00180	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	143	cd05606	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd08221	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd05577	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	142	cd05633	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd07846	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	661	cd05123	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd07843	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	172	cd07833	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	191	cd07834	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd06625	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	221	cd07830	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	195	cd07829	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd06917	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd05630	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	180	cd05122	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd05632	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	285	cd05105	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	287	cd05107	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd05064	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05063	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168	cd05094	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	165	cd05093	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd06620	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	186	cd05095	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	176	cd05097	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	231	cd05046	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd05050	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	210	cd05051	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	212	cd05096	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	177	cd05049	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	169	cd05090	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	169	cd05091	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	172	cd05048	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	167	cd05092	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	207	cd05057	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	175	cd06652	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd08226	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd08216	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd06653	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd07852	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	163	cd06658	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	197	cd06614	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	267	cd05106	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	165	cd05061	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd05052	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	163	cd07864	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd07856	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd05083	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05148	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd07849	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	209	cd05032	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	166	cd05036	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd06637	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd06624	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd05062	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd07858	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd05073	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd05039	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd05034	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd05082	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd05070	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd05072	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd05067	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05068	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd05069	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	181	cd05056	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd05089	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd05071	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	smart00750	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd06616	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd05115	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	269	cd05104	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	165	cd07850	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	179	cd05100	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	179	cd05099	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	177	cd05038	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	183	cd05033	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd05065	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd05079	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd05066	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05113	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd05114	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd05112	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd05059	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd05108	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd05110	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd05109	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd05111	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd07869	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	163	cd07880	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	179	cd07851	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	169	cd06638	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd06644	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	530	smart00220	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd06656	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd06655	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd06647	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05040	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05081	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd05086	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05058	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd05042	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd05078	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	172	cd05037	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd05077	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	365	cd00192	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd05116	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141	cd05619	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd05592	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd05620	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd07831	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141	cd05571	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd07837	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	177	cd05574	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141	cd05617	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd07839	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd05118	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	195	cd07840	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141	cd05594	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	143	cd05570	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd05593	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	140	cd05595	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141	cd05602	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	143	cd05582	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141	cd05604	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	139	cd05084	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	162	cd05044	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141	cd05041	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05087	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	139	cd05085	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	216	cd08217	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141	cd05590	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141	cd05603	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141	cd05575	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141	cd05591	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141	cd05588	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd05047	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd05060	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd06643	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	176	cd07866	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	188	cd06608	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd06611	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	169	cd07865	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	261	cd05581	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd06610	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd05623	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	172	cd05045	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05583	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	163	cd05613	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd06630	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd07859	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd07857	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd05605	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	162	cd07841	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	235	cd06606	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd05631	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	165	cd07832	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd06629	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05616	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd07836	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd07861	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd07860	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd07863	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd06651	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd06627	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05614	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05615	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd08225	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd08222	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd08219	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd06631	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	205	cd08215	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd08223	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd08530	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168	cd08528	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd08218	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd06628	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd08220	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd05587	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd07853	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05578	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	170	cd06635	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	166	cd06636	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	165	cd07877	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	161	cd06648	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	162	cd06659	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	172	cd07838	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	161	cd06657	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd06634	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd06607	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	225	cd05103	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	223	cd05102	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	169	cd05088	33188459,NP_004324
673	50403720	Disease	p.Gly596Val	VAR_035098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035098	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd08529	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	185	cd05101	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	169	cd06633	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	197	cd06623	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	162_G	cd06622	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168_G	cd07845	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156_G	cd06621	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	172	cd06609	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd06619	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05612	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151_G	cd06617	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd07871	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	158	cd07862	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd07870	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd07847	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd07844	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	257_G	cd07842	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd07872	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	203	cd05580	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148_G	cd06615	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	205	cd05573	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd05609	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd07873	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd08228	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	668	COG0515	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	167	cd06605	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154_G	cd08224	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd08229	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd06626	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd07868	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd07867	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150_G	cd05584	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	167	cd06632	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	197_G	cd05053	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	191_G	cd05043	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	170_G	cd05035	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160_G	cd05074	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	175	cd05075	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	176	cd07854	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	175	cd07835	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	259	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	462	smart00219	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	323	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	626	smart00221	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148_G	cd05589	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154_G	cd05080	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd06642	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd06641	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd06613	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd06640	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	163	cd06612	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	183	cd06639	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	165	cd06654	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	296	cd05055	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd06646	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd06645	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	188	cd05098	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	167	cd06618	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd05608	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	143	cd05607	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05579	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	217	cd05572	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	139_G	cd05585	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	448	cd00180	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05606	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd08221	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd05577	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd05633	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd07846	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	664	cd05123	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	166_G	cd07843	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	176	cd07833	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	193_G	cd07834	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	158	cd06625	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	225	cd07830	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	201	cd07829	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd06917	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05630	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	183	cd05122	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149_G	cd05632	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	288	cd05105	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	290	cd05107	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd05064	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd05063	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	169_G	cd05094	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	166_G	cd05093	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152_G	cd06620	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	187_G	cd05095	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	177_G	cd05097	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	233_G	cd05046	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	179_G	cd05050	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	211_G	cd05051	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	213_G	cd05096	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178_G	cd05049	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	173	cd05090	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	171_G	cd05091	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	173_G	cd05048	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168_G	cd05092	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	210	cd05057	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	182	cd06652	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd08226	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd08216	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd06653	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	158	cd07852	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	166	cd06658	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	200	cd06614	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	270	cd05106	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168	cd05061	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151_G	cd05052	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	166	cd07864	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd07856	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd05083	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05148	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	158	cd07849	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	211_G	cd05032	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	169	cd05036	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd06637	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd06624	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	167	cd05062	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd07858	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd05073	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153_G	cd05039	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd05034	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05082	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05070	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd05072	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05067	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05068	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149_G	cd05069	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	182_G	cd05056	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	167	cd05089	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149_G	cd05071	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	78	smart00750	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	161_G	cd06616	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	143	cd05115	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	272	cd05104	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	167_G	cd07850	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	182	cd05100	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	182	cd05099	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	180	cd05038	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	186	cd05033	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd05065	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	158	cd05079	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd05066	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147_G	cd05113	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147_G	cd05114	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146_G	cd05112	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149_G	cd05059	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd05108	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd05110	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd05109	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd05111	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd07869	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	165_G	cd07880	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	181_G	cd07851	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	172	cd06638	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	158	cd06644	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	534	smart00220	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd06656	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd06655	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	163	cd06647	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154_G	cd05040	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd05081	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd05086	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd05058	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd05042	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd05078	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	175	cd05037	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	161	cd05077	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	366_G	cd00192	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	143	cd05116	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	142_G	cd05619	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	158_G	cd05592	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157_G	cd05620	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd07831	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	142_G	cd05571	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	167	cd07837	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	180	cd05574	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	142_G	cd05617	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd07839	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156_G	cd05118	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	198	cd07840	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	142_G	cd05594	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145_G	cd05570	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141_G	cd05593	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141_G	cd05595	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	142_G	cd05602	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145_G	cd05582	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	142_G	cd05604	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	142	cd05084	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164_G	cd05044	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd05041	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05087	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	142	cd05085	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	219	cd08217	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	142_G	cd05590	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	142_G	cd05603	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	143_G	cd05575	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	142_G	cd05591	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	142_G	cd05588	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd05047	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149_G	cd05060	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd06643	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	179	cd07866	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	192	cd06608	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd06611	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	172	cd07865	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	264	cd05581	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd06610	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd05623	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	174_G	cd05045	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05583	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	166	cd05613	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd06630	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd07859	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd07857	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05605	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164_G	cd07841	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	238	cd06606	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05631	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168	cd07832	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156_G	cd06629	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd05616	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150_G	cd07836	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd07861	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd07860	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd07863	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	158	cd06651	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	158	cd06627	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05614	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147_G	cd05615	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd08225	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd08222	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd08219	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd06631	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	208	cd08215	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd08223	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd08530	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	171	cd08528	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd08218	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd06628	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd08220	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152_G	cd05587	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd07853	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd05578	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	173	cd06635	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	169	cd06636	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168	cd07877	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd06648	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	165	cd06659	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	175	cd07838	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164	cd06657	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	163	cd06634	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	163	cd06607	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	228	cd05103	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	226	cd05102	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	172	cd05088	33188459,NP_004324
673	50403720	Disease	p.Thr599Arg	VAR_058628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058628	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd08529	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	187	cd05101	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	171	cd06633	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	199	cd06623	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	162_G	cd06622	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168_G	cd07845	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156_G	cd06621	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	174	cd06609	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168	cd06619	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd05612	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151_G	cd06617	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd07871	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd07862	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd07870	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd07847	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd07844	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	257_G	cd07842	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd07872	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	205	cd05580	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148_G	cd06615	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	206	cd05573	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	162	cd05609	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd07873	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd08228	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	720	COG0515	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	175	cd06605	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154_G	cd08224	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd08229	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd06626	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	163	cd07868	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	163	cd07867	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd05584	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	169	cd06632	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	197_G	cd05053	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	191_G	cd05043	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	171	cd05035	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	161	cd05074	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	177	cd05075	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd07854	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	177	cd07835	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	261	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	464	smart00219	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	325	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	634	smart00221	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd05589	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd05080	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd06642	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd06641	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151_G	cd06613	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd06640	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	163_G	cd06612	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	185	cd06639	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	167	cd06654	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	298	cd05055	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd06646	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	161	cd06645	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	190	cd05098	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	167_G	cd06618	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd05608	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	143_G	cd05607	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd05579	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	219	cd05572	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	141	cd05585	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	450	cd00180	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	148	cd05606	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd08221	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05577	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147	cd05633	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd07846	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	666	cd05123	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	166_G	cd07843	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd07833	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	193_G	cd07834	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd06625	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	227	cd07830	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	203	cd07829	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159_G	cd06917	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150_G	cd05630	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	185	cd05122	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd05632	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	290	cd05105	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	292	cd05107	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd05064	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd05063	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	169_G	cd05094	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	166_G	cd05093	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152_G	cd06620	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	187_G	cd05095	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	177_G	cd05097	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	234	cd05046	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	179_G	cd05050	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	211_G	cd05051	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	213_G	cd05096	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178_G	cd05049	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	175	cd05090	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	171_G	cd05091	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	173_G	cd05048	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168_G	cd05092	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	212	cd05057	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	184	cd06652	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd08226	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd08216	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd06653	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd07852	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168	cd06658	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	202	cd06614	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	272	cd05106	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	170	cd05061	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151_G	cd05052	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168	cd07864	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157_G	cd07856	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05083	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd05148	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd07849	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	211_G	cd05032	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	171	cd05036	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	161	cd06637	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	162	cd06624	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	169	cd05062	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd07858	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05073	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153_G	cd05039	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	158	cd05034	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd05082	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05070	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05072	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd05067	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd05068	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149_G	cd05069	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	182_G	cd05056	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	169	cd05089	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149_G	cd05071	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	80	smart00750	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	161_G	cd06616	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd05115	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	274	cd05104	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	167_G	cd07850	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	184	cd05100	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	184	cd05099	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	182	cd05038	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	188	cd05033	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd05065	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd05079	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd05066	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147_G	cd05113	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	147_G	cd05114	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146_G	cd05112	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149_G	cd05059	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd05108	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd05110	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd05109	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd05111	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd07869	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	165_G	cd07880	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	181_G	cd07851	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	174	cd06638	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd06644	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	542	smart00220	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	166	cd06656	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	166	cd06655	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	165	cd06647	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154_G	cd05040	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	158	cd05081	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05086	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	157	cd05058	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd05042	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	161	cd05078	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	175_G	cd05037	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	163	cd05077	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	366_G	cd00192	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd05116	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd05619	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd05592	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd05620	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	158	cd07831	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd05571	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	169	cd07837	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	182	cd05574	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd05617	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd07839	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156_G	cd05118	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	200	cd07840	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd05594	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05570	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	143	cd05593	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	143	cd05595	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd05602	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05582	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd05604	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd05084	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164_G	cd05044	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	146	cd05041	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd05087	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd05085	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	220_G	cd08217	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd05590	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd05603	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd05575	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd05591	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	144	cd05588	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	162	cd05047	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05060	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd06643	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	180_G	cd07866	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	194	cd06608	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156	cd06611	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	174	cd07865	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	266	cd05581	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	166	cd06610	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd05623	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	175	cd05045	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd05583	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168	cd05613	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd06630	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	153	cd07859	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	159	cd07857	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150_G	cd05605	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	164_G	cd07841	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	240	cd06606	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150_G	cd05631	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	170	cd07832	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	156_G	cd06629	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd05616	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd07836	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd07861	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd07860	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160_G	cd07863	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd06651	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd06627	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155	cd05614	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	149	cd05615	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151_G	cd08225	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155_G	cd08222	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	150	cd08219	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	158	cd06631	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	210	cd08215	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	152	cd08223	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd08530	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	173	cd08528	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd08218	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	158	cd06628	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	161	cd08220	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd05587	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	154	cd07853	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	151	cd05578	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	175	cd06635	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	171	cd06636	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	168_G	cd07877	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	166	cd06648	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	167	cd06659	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	177	cd07838	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	166	cd06657	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	165	cd06634	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	165	cd06607	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	230	cd05103	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	228	cd05102	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	174	cd05088	33188459,NP_004324
673	50403720	Disease	p.Lys601Gln	VAR_058629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058629	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	155_G	cd08529	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	221	cd05101	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	202	cd06633	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	241	cd06623	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	207	cd06622	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	206	cd07845	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	191	cd06621	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	213	cd06609	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	196	cd06619	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	180	cd05612	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	190	cd06617	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	186	cd07871	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	192	cd07862	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	186	cd07870	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	190	cd07847	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	187	cd07844	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	298	cd07842	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	187	cd07872	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	245	cd05580	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	182	cd06615	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	327	cd05573	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	199	cd05609	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	187	cd07873	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	188	cd08228	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	874	COG0515	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	206	cd06605	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	189	cd08224	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	188	cd08229	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	229	cd06626	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	198	cd07868	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	198	cd07867	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	186	cd05584	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	208	cd06632	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	234	cd05053	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	229	cd05043	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	207	cd05035	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	197	cd05074	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	211	cd05075	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	213	cd07854	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	210	cd07835	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	334	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	571	smart00219	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	379	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	837	smart00221	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	183	cd05589	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	192	cd05080	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	183	cd06642	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	183	cd06641	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	191	cd06613	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	183	cd06640	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	202	cd06612	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	222	cd06639	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	198	cd06654	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	323	cd05055	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	191	cd06646	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	191	cd06645	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	224	cd05098	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	205	cd06618	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	179	cd05608	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	177	cd05607	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	726	cd05579	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	253	cd05572	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	175	cd05585	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	667	cd00180	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	179	cd05606	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	186	cd08221	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	183	cd05577	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd05633	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	185	cd07846	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	794	cd05123	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	206	cd07843	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	242	cd07833	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	271	cd07834	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	192	cd06625	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	258	cd07830	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	237	cd07829	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	196	cd06917	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	183	cd05630	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	227	cd05122	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	183	cd05632	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	324	cd05105	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	326	cd05107	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	191	cd05064	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	193	cd05063	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	214	cd05094	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	204	cd05093	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	188	cd06620	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	225	cd05095	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	215	cd05097	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	269	cd05046	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	217	cd05050	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	254	cd05051	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	251	cd05096	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	216	cd05049	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	208	cd05090	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	208	cd05091	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	211	cd05048	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	206	cd05092	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	247	cd05057	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	215	cd06652	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	192	cd08226	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	195	cd08216	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	191	cd06653	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	211	cd07852	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	200	cd06658	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	236	cd06614	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	306	cd05106	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	204	cd05061	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	187	cd05052	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	203	cd07864	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	188	cd07856	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	179	cd05083	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	188	cd05148	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	207	cd07849	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	248	cd05032	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	206	cd05036	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	198	cd06637	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	198	cd06624	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	203	cd05062	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	196	cd07858	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	186	cd05073	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	188	cd05039	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	196	cd05034	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	181	cd05082	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	185	cd05070	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	186	cd05072	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	185	cd05067	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	191	cd05068	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	185	cd05069	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	221	cd05056	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	200	cd05089	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	185	cd05071	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	173	smart00750	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	200	cd06616	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	180	cd05115	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	308	cd05104	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	203	cd07850	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	218	cd05100	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	218	cd05099	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	220	cd05038	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	227	cd05033	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	193	cd05065	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	194	cd05079	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	191	cd05066	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	184	cd05113	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	183	cd05114	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	183	cd05112	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	185	cd05059	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	193	cd05108	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	193	cd05110	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	193	cd05109	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	193	cd05111	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	186	cd07869	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	198	cd07880	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	218	cd07851	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	211	cd06638	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	197	cd06644	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	776	smart00220	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	197	cd06656	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	197	cd06655	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	197	cd06647	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	195	cd05040	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	193	cd05081	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	191	cd05086	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	191	cd05058	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	195	cd05042	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	189	cd05078	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	213	cd05037	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	191	cd05077	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	420	cd00192	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	180	cd05116	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd05619	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	194	cd05592	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	193	cd05620	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	189	cd07831	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd05571	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	202	cd07837	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	279	cd05574	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd05617	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	182	cd07839	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	195	cd05118	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	282	cd07840	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd05594	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	180	cd05570	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	177	cd05593	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	177	cd05595	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd05602	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	180	cd05582	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd05604	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd05084	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	201	cd05044	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	180	cd05041	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	196	cd05087	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	177	cd05085	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	255	cd08217	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd05590	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd05603	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd05575	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd05591	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd05588	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	193	cd05047	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	187	cd05060	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	190	cd06643	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	232	cd07866	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	235	cd06608	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	192	cd06611	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	213	cd07865	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	433	cd05581	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	206	cd06610	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	190	cd05623	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	211	cd05045	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	191	cd05583	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	203	cd05613	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	191	cd06630	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	195	cd07859	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	200	cd07857	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	183	cd05605	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	220	cd07841	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	328	cd06606	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	183	cd05631	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	205	cd07832	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	198	cd06629	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	183	cd05616	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	186	cd07836	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	185	cd07861	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	183	cd07860	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	192	cd07863	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	191	cd06651	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	227	cd06627	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	189	cd05614	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	183	cd05615	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	184	cd08225	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	188	cd08222	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	182	cd08219	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	192	cd06631	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	251	cd08215	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	184	cd08223	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	190	cd08530	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	205	cd08528	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	183	cd08218	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	198	cd06628	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	192	cd08220	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	188	cd05587	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	188	cd07853	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	193	cd05578	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	206	cd06635	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	208	cd06636	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	200	cd07877	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	198	cd06648	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	199	cd06659	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	231	cd07838	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	198	cd06657	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	196	cd06634	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	196	cd06607	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	264	cd05103	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	262	cd05102	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	205	cd05088	33188459,NP_004324
673	50403720	Disease	p.Asp638Glu	VAR_058630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058630	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	188	cd08529	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	288	cd05101	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	265_G	cd06633	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	334	cd06623	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	277	cd06622	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	276	cd07845	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	277	cd06621	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	288	cd06609	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	279	cd06619	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	260	cd05612	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	264	cd06617	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	257	cd07871	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	266	cd07862	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	263	cd07870	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	267	cd07847	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	266	cd07844	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	410	cd07842	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	257	cd07872	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	362	cd05580	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	270	cd06615	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	468	cd05573	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	276	cd05609	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	263	cd07873	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	260	cd08228	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	1178	COG0515	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	333	cd06605	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	262	cd08224	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	257	cd08229	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	286	cd07868	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	290	cd07867	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	264	cd05584	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	276	cd06632	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	302	cd05053	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	296	cd05043	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	275	cd05035	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	264	cd05074	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	278	cd05075	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	305	cd07854	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	288	cd07835	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	467	pfam00069	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	695	smart00219	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	477	pfam07714	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	1076	smart00221	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	266	cd05589	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	273	cd05080	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	249	cd06642	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	245_G	cd06641	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	261	cd06613	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	249	cd06640	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	272	cd06612	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	290	cd06639	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	270	cd06654	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	391	cd05055	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	261	cd06646	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	261	cd06645	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	291	cd05098	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	277_G	cd06618	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	248	cd05608	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	246	cd05607	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	829	cd05579	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	252	cd05585	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	866	cd00180	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	262	cd05606	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	262	cd08221	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	266	cd05577	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	245	cd05633	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	300	cd07846	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	296	cd07843	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	364	cd07833	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	383	cd07834	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	259	cd06625	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	390	cd07830	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	358	cd07829	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	261_G	cd06917	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	266	cd05630	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	348	cd05122	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	251	cd05632	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	392	cd05105	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	394	cd05107	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	258	cd05064	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	260	cd05063	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	334	cd05094	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	271	cd05093	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	320	cd06620	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	301	cd05095	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	290	cd05097	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	338	cd05046	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	284	cd05050	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	345	cd05051	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	326	cd05096	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	293	cd05049	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	275	cd05090	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	275	cd05091	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	278	cd05048	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	273	cd05092	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	314	cd05057	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	283	cd08226	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	316	cd08216	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	262	cd06653	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	285	cd07852	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	287	cd06658	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	304	cd06614	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	374	cd05106	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	271	cd05061	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	254	cd05052	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	273	cd07864	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	256	cd07856	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	246	cd05083	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	291	cd05148	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	279	cd07849	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	319	cd05032	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	273	cd05036	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	265	cd06637	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	266	cd06624	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	270	cd05062	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	268	cd07858	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	253	cd05073	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	259	cd05039	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	265	cd05034	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	248	cd05082	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	252	cd05070	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	253	cd05072	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	278	cd05067	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	258	cd05068	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	252	cd05069	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	289	cd05056	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	267	cd05089	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	252	cd05071	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	285	smart00750	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	275	cd06616	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	247	cd05115	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	376	cd05104	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	290	cd07850	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	286	cd05100	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	285	cd05099	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	321	cd05038	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	294	cd05033	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	260	cd05065	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	275	cd05079	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	258	cd05066	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	251	cd05113	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	250	cd05114	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	250	cd05112	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	252	cd05059	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	260	cd05108	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	260	cd05110	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	260	cd05109	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	260	cd05111	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	260	cd07869	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	276	cd07880	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	292	cd07851	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	279	cd06638	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	265	cd06644	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	1227	smart00220	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	265	cd06656	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	265	cd06655	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	265	cd06647	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	264	cd05040	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	275	cd05081	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	258	cd05058	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	254	cd05078	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	289	cd05037	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	256	cd05077	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	518	cd00192	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	245_G	cd05116	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	253	cd05619	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	273	cd05592	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	268	cd05620	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	275	cd05571	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	270	cd07837	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	364	cd05574	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	283	cd05617	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	258	cd07839	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	267	cd05118	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	375	cd07840	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	275	cd05594	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	270	cd05570	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	274	cd05593	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	274	cd05595	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	274	cd05602	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	258	cd05582	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	255	cd05604	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	245	cd05084	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	268	cd05044	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	247	cd05041	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	267	cd05087	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	244	cd05085	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	322	cd08217	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	259	cd05590	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	256	cd05603	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	258	cd05575	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	259	cd05591	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	274	cd05588	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	260	cd05047	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	254	cd05060	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	258	cd06643	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	303	cd06608	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	260	cd06611	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	301	cd07865	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	539	cd05581	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	271	cd05623	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	278	cd05045	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	273	cd05583	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	285	cd05613	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	257_G	cd06630	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	291	cd07859	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	271	cd07857	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	271	cd05605	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	305	cd07841	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	252	cd05631	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	280	cd07832	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	280	cd05616	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	259	cd07836	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	264	cd07861	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	263	cd07860	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	262	cd07863	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	265	cd06651	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	271	cd05614	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	262	cd05615	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	250	cd08225	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	254	cd08222	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	248	cd08219	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	260	cd06631	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	331	cd08215	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	250	cd08223	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	257	cd08530	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	272	cd08528	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	249	cd08218	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	265	cd06628	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	258	cd08220	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	270	cd05587	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	266	cd07853	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	282	cd05578	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	273	cd06635	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	275	cd06636	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	273	cd07877	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	286	cd06648	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	267	cd06659	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	260	cd06657	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	264	cd06634	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	269	cd06607	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	332	cd05103	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	330	cd05102	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	272	cd05088	33188459,NP_004324
673	50403720	Disease	p.Gln709Arg	VAR_058631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058631	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	258	cd08529	33188459,NP_004324
675	14424438	Disease	p.Arg2336His	VAR_032730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032730	- Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724]	SWISS	No Domain	N/A	NULL
675	14424438	Disease	p.Leu2510Pro	VAR_032732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032732	- Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724]	SWISS	38	pfam09169	NULL
675	14424438	Disease	p.Trp2626Cys	VAR_032733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032733	- Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724]	SWISS	160	pfam09169	NULL
83990	57012613	Disease	p.Gln255His	VAR_023700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023700	- Fanconi anemia complementation group J (FANCJ) [MIM:609054]	SWISS	8	pfam06733	NULL
83990	57012613	Disease	p.Gln255His	VAR_023700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023700	- Fanconi anemia complementation group J (FANCJ) [MIM:609054]	SWISS	230	smart00489	NULL
83990	57012613	Disease	p.Gln255His	VAR_023700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023700	- Fanconi anemia complementation group J (FANCJ) [MIM:609054]	SWISS	230	smart00488	NULL
83990	57012613	Disease	p.Gln255His	VAR_023700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023700	- Fanconi anemia complementation group J (FANCJ) [MIM:609054]	SWISS	204	COG1199	NULL
83990	57012613	Disease	p.Ala349Pro	VAR_023702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023702	- Fanconi anemia complementation group J (FANCJ) [MIM:609054]	SWISS	154	pfam06733	NULL
83990	57012613	Disease	p.Ala349Pro	VAR_023702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023702	- Fanconi anemia complementation group J (FANCJ) [MIM:609054]	SWISS	384	smart00489	NULL
83990	57012613	Disease	p.Ala349Pro	VAR_023702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023702	- Fanconi anemia complementation group J (FANCJ) [MIM:609054]	SWISS	384	smart00488	NULL
83990	57012613	Disease	p.Ala349Pro	VAR_023702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023702	- Fanconi anemia complementation group J (FANCJ) [MIM:609054]	SWISS	354	COG1199	NULL
83990	57012613	Disease	p.Trp647Cys	VAR_023703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023703	- Fanconi anemia complementation group J (FANCJ) [MIM:609054]	SWISS	790	COG1199	NULL
83990	57012613	Disease	p.Arg707Cys	VAR_023704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023704	- Fanconi anemia complementation group J (FANCJ) [MIM:609054]	SWISS	865	COG1199	NULL
83990	57012613	Disease	p.Arg707Cys	VAR_023704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023704	- Fanconi anemia complementation group J (FANCJ) [MIM:609054]	SWISS	10	smart00491	NULL
83990	57012613	Disease	p.Arg707Cys	VAR_023704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023704	- Fanconi anemia complementation group J (FANCJ) [MIM:609054]	SWISS	10	smart00492	NULL
254065	74762368	Disease	p.Lys1596Glu	VAR_036940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036940	- Mental retardation X-linked type 93 (MRX93) [MIM:300659]	SWISS	No Domain	N/A	296011086,NP_694984
26580	269849705	Disease	p.Asn88Ser	VAR_022375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022375	- Spastic paraplegia type 17 (SPG17) [MIM:270685]	SWISS	77	pfam06775	40068505,NP_116056
26580	269849705	Disease	p.Ser90Leu	VAR_022376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022376	- Spastic paraplegia type 17 (SPG17) [MIM:270685]	SWISS	79	pfam06775	40068505,NP_116056
26580	269849705	Disease	p.Ala212Pro	VAR_022377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022377	- Congenital generalized lipodystrophy type 2 (CGL2) [MIM:269700]	SWISS	421	pfam06775	40068505,NP_116056
7809	54035724	Disease	p.Arg8Leu	VAR_019783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019783	- Bartter syndrome type 4A (BS4A) [MIM:602522]	SWISS	No Domain	N/A	17017967,NP_476517
7809	54035724	Disease	p.Arg8Trp	VAR_019784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019784	- Bartter syndrome type 4A (BS4A) [MIM:602522]	SWISS	No Domain	N/A	17017967,NP_476517
7809	54035724	Disease	p.Gly10Ser	VAR_019785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019785	- Bartter syndrome type 4A (BS4A) [MIM:602522]	SWISS	No Domain	N/A	17017967,NP_476517
7809	54035724	Disease	p.Gly47Arg	VAR_019786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019786	- Bartter syndrome type 4A (BS4A) [MIM:602522]	SWISS	No Domain	N/A	17017967,NP_476517
686	226693503	Disease	p.Phe128Val	VAR_005113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005113	- Biotinidase deficiency (BTD deficiency) [MIM:253260]	SWISS	75	cd07197	4557373,NP_000051
686	226693503	Disease	p.Phe128Val	VAR_005113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005113	- Biotinidase deficiency (BTD deficiency) [MIM:253260]	SWISS	78	COG0388	4557373,NP_000051
686	226693503	Disease	p.Phe128Val	VAR_005113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005113	- Biotinidase deficiency (BTD deficiency) [MIM:253260]	SWISS	107	pfam00795	4557373,NP_000051
686	226693503	Disease	p.Phe128Val	VAR_005113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005113	- Biotinidase deficiency (BTD deficiency) [MIM:253260]	SWISS	72	cd07567	4557373,NP_000051
686	226693503	Disease	p.Ala171Thr	VAR_005114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005114	rs13073139 Biotinidase deficiency (BTD deficiency) [MIM:253260]	SWISS	132	cd07197	4557373,NP_000051
686	226693503	Disease	p.Ala171Thr	VAR_005114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005114	rs13073139 Biotinidase deficiency (BTD deficiency) [MIM:253260]	SWISS	109	COG0388	4557373,NP_000051
686	226693503	Disease	p.Ala171Thr	VAR_005114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005114	rs13073139 Biotinidase deficiency (BTD deficiency) [MIM:253260]	SWISS	242	pfam00795	4557373,NP_000051
686	226693503	Disease	p.Ala171Thr	VAR_005114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005114	rs13073139 Biotinidase deficiency (BTD deficiency) [MIM:253260]	SWISS	124	cd07567	4557373,NP_000051
686	226693503	Disease	p.Asp228Tyr	VAR_005115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005115	- Biotinidase deficiency (BTD deficiency) [MIM:253260]	SWISS	219	cd07197	4557373,NP_000051
686	226693503	Disease	p.Asp228Tyr	VAR_005115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005115	- Biotinidase deficiency (BTD deficiency) [MIM:253260]	SWISS	219	COG0388	4557373,NP_000051
686	226693503	Disease	p.Asp228Tyr	VAR_005115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005115	- Biotinidase deficiency (BTD deficiency) [MIM:253260]	SWISS	338	pfam00795	4557373,NP_000051
686	226693503	Disease	p.Asp228Tyr	VAR_005115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005115	- Biotinidase deficiency (BTD deficiency) [MIM:253260]	SWISS	191	cd07567	4557373,NP_000051
686	226693503	Disease	p.His323Arg	VAR_005116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005116	- Biotinidase deficiency (BTD deficiency) [MIM:253260]	SWISS	410	cd07197	4557373,NP_000051
686	226693503	Disease	p.His323Arg	VAR_005116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005116	- Biotinidase deficiency (BTD deficiency) [MIM:253260]	SWISS	395	COG0388	4557373,NP_000051
686	226693503	Disease	p.His323Arg	VAR_005116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005116	- Biotinidase deficiency (BTD deficiency) [MIM:253260]	SWISS	290	cd07567	4557373,NP_000051
686	226693503	Disease	p.Asp444His	VAR_005117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005117	rs13078881 Biotinidase deficiency (BTD deficiency) [MIM:253260]	SWISS	No Domain	N/A	4557373,NP_000051
686	226693503	Disease	p.Gly451Asp	VAR_005118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005118	- Biotinidase deficiency (BTD deficiency) [MIM:253260]	SWISS	No Domain	N/A	4557373,NP_000051
686	226693503	Disease	p.Gln456His	VAR_005119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005119	- Biotinidase deficiency (BTD deficiency) [MIM:253260]	SWISS	No Domain	N/A	4557373,NP_000051
686	226693503	Disease	p.Thr532Met	VAR_005120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005120	- Biotinidase deficiency (BTD deficiency) [MIM:253260]	SWISS	No Domain	N/A	4557373,NP_000051
686	226693503	Disease	p.Arg538Cys	VAR_005121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005121	- Biotinidase deficiency (BTD deficiency) [MIM:253260]	SWISS	No Domain	N/A	4557373,NP_000051
695	547759	Disease	p.Leu11Pro	VAR_006216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006216	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	6	cd00900	4557377,NP_000052
695	547759	Disease	p.Leu11Pro	VAR_006216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006216	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	6	cd00821	4557377,NP_000052
695	547759	Disease	p.Leu11Pro	VAR_006216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006216	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	smart00233	4557377,NP_000052
695	547759	Disease	p.Leu11Pro	VAR_006216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006216	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	pfam00169	4557377,NP_000052
695	547759	Disease	p.Leu11Pro	VAR_006216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006216	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	7	cd01238	4557377,NP_000052
695	547759	Disease	p.Lys12Arg	VAR_006217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006217	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	7	cd00900	4557377,NP_000052
695	547759	Disease	p.Lys12Arg	VAR_006217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006217	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	7	cd00821	4557377,NP_000052
695	547759	Disease	p.Lys12Arg	VAR_006217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006217	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	11	smart00233	4557377,NP_000052
695	547759	Disease	p.Lys12Arg	VAR_006217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006217	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	pfam00169	4557377,NP_000052
695	547759	Disease	p.Lys12Arg	VAR_006217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006217	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd01238	4557377,NP_000052
695	547759	Disease	p.Ser14Phe	VAR_006218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006218	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd00900	4557377,NP_000052
695	547759	Disease	p.Ser14Phe	VAR_006218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006218	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd00821	4557377,NP_000052
695	547759	Disease	p.Ser14Phe	VAR_006218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006218	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	smart00233	4557377,NP_000052
695	547759	Disease	p.Ser14Phe	VAR_006218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006218	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	11	pfam00169	4557377,NP_000052
695	547759	Disease	p.Ser14Phe	VAR_006218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006218	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	10	cd01238	4557377,NP_000052
695	547759	Disease	p.Lys19Glu	VAR_008291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008291	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd00900	4557377,NP_000052
695	547759	Disease	p.Lys19Glu	VAR_008291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008291	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd00821	4557377,NP_000052
695	547759	Disease	p.Lys19Glu	VAR_008291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008291	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	smart00233	4557377,NP_000052
695	547759	Disease	p.Lys19Glu	VAR_008291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008291	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	pfam00169	4557377,NP_000052
695	547759	Disease	p.Lys19Glu	VAR_008291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008291	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd01238	4557377,NP_000052
695	547759	Disease	p.Phe25Ser	VAR_006219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006219	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd00900	4557377,NP_000052
695	547759	Disease	p.Phe25Ser	VAR_006219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006219	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd00821	4557377,NP_000052
695	547759	Disease	p.Phe25Ser	VAR_006219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006219	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	103	smart00233	4557377,NP_000052
695	547759	Disease	p.Phe25Ser	VAR_006219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006219	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	pfam00169	4557377,NP_000052
695	547759	Disease	p.Phe25Ser	VAR_006219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006219	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd01238	4557377,NP_000052
695	547759	Disease	p.Lys27Arg	VAR_008292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008292	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd00900	4557377,NP_000052
695	547759	Disease	p.Lys27Arg	VAR_008292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008292	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd00821	4557377,NP_000052
695	547759	Disease	p.Lys27Arg	VAR_008292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008292	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	smart00233	4557377,NP_000052
695	547759	Disease	p.Lys27Arg	VAR_008292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008292	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	43	pfam00169	4557377,NP_000052
695	547759	Disease	p.Lys27Arg	VAR_008292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008292	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd01238	4557377,NP_000052
695	547759	Disease	p.Arg28Cys	VAR_008293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008293	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd00900	4557377,NP_000052
695	547759	Disease	p.Arg28Cys	VAR_008293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008293	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd00821	4557377,NP_000052
695	547759	Disease	p.Arg28Cys	VAR_008293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008293	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	smart00233	4557377,NP_000052
695	547759	Disease	p.Arg28Cys	VAR_008293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008293	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	44	pfam00169	4557377,NP_000052
695	547759	Disease	p.Arg28Cys	VAR_008293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008293	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd01238	4557377,NP_000052
695	547759	Disease	p.Arg28His	VAR_006220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006220	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd00900	4557377,NP_000052
695	547759	Disease	p.Arg28His	VAR_006220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006220	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd00821	4557377,NP_000052
695	547759	Disease	p.Arg28His	VAR_006220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006220	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	smart00233	4557377,NP_000052
695	547759	Disease	p.Arg28His	VAR_006220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006220	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	44	pfam00169	4557377,NP_000052
695	547759	Disease	p.Arg28His	VAR_006220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006220	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd01238	4557377,NP_000052
695	547759	Disease	p.Arg28Pro	VAR_006221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006221	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd00900	4557377,NP_000052
695	547759	Disease	p.Arg28Pro	VAR_006221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006221	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd00821	4557377,NP_000052
695	547759	Disease	p.Arg28Pro	VAR_006221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006221	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	smart00233	4557377,NP_000052
695	547759	Disease	p.Arg28Pro	VAR_006221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006221	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	44	pfam00169	4557377,NP_000052
695	547759	Disease	p.Arg28Pro	VAR_006221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006221	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd01238	4557377,NP_000052
695	547759	Disease	p.Thr33Pro	VAR_006222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006222	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd00900	4557377,NP_000052
695	547759	Disease	p.Thr33Pro	VAR_006222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006222	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	43	cd00821	4557377,NP_000052
695	547759	Disease	p.Thr33Pro	VAR_006222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006222	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	smart00233	4557377,NP_000052
695	547759	Disease	p.Thr33Pro	VAR_006222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006222	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	pfam00169	4557377,NP_000052
695	547759	Disease	p.Thr33Pro	VAR_006222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006222	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	29	cd01238	4557377,NP_000052
695	547759	Disease	p.Tyr39Ser	VAR_008960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008960	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd00900	4557377,NP_000052
695	547759	Disease	p.Tyr39Ser	VAR_008960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008960	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	58	cd00821	4557377,NP_000052
695	547759	Disease	p.Tyr39Ser	VAR_008960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008960	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	smart00233	4557377,NP_000052
695	547759	Disease	p.Tyr39Ser	VAR_008960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008960	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	62	pfam00169	4557377,NP_000052
695	547759	Disease	p.Tyr39Ser	VAR_008960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008960	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd01238	4557377,NP_000052
695	547759	Disease	p.Tyr40Cys	VAR_008294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008294	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd00900	4557377,NP_000052
695	547759	Disease	p.Tyr40Cys	VAR_008294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008294	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	59	cd00821	4557377,NP_000052
695	547759	Disease	p.Tyr40Cys	VAR_008294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008294	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	smart00233	4557377,NP_000052
695	547759	Disease	p.Tyr40Cys	VAR_008294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008294	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	pfam00169	4557377,NP_000052
695	547759	Disease	p.Tyr40Cys	VAR_008294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008294	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd01238	4557377,NP_000052
695	547759	Disease	p.Tyr40Asn	VAR_008295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008295	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd00900	4557377,NP_000052
695	547759	Disease	p.Tyr40Asn	VAR_008295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008295	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	59	cd00821	4557377,NP_000052
695	547759	Disease	p.Tyr40Asn	VAR_008295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008295	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	smart00233	4557377,NP_000052
695	547759	Disease	p.Tyr40Asn	VAR_008295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008295	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	pfam00169	4557377,NP_000052
695	547759	Disease	p.Tyr40Asn	VAR_008295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008295	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd01238	4557377,NP_000052
695	547759	Disease	p.Ile61Asn	VAR_008296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008296	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd00900	4557377,NP_000052
695	547759	Disease	p.Ile61Asn	VAR_008296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008296	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd00821	4557377,NP_000052
695	547759	Disease	p.Ile61Asn	VAR_008296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008296	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	357	smart00233	4557377,NP_000052
695	547759	Disease	p.Ile61Asn	VAR_008296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008296	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	pfam00169	4557377,NP_000052
695	547759	Disease	p.Ile61Asn	VAR_008296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008296	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	57	cd01238	4557377,NP_000052
695	547759	Disease	p.Val64Asp	VAR_008297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008297	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd00900	4557377,NP_000052
695	547759	Disease	p.Val64Asp	VAR_008297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008297	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd00821	4557377,NP_000052
695	547759	Disease	p.Val64Asp	VAR_008297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008297	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	383	smart00233	4557377,NP_000052
695	547759	Disease	p.Val64Asp	VAR_008297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008297	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	pfam00169	4557377,NP_000052
695	547759	Disease	p.Val64Asp	VAR_008297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008297	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	60	cd01238	4557377,NP_000052
695	547759	Disease	p.Val64Phe	VAR_006223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006223	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd00900	4557377,NP_000052
695	547759	Disease	p.Val64Phe	VAR_006223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006223	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd00821	4557377,NP_000052
695	547759	Disease	p.Val64Phe	VAR_006223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006223	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	383	smart00233	4557377,NP_000052
695	547759	Disease	p.Val64Phe	VAR_006223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006223	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	pfam00169	4557377,NP_000052
695	547759	Disease	p.Val64Phe	VAR_006223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006223	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	60	cd01238	4557377,NP_000052
695	547759	Disease	p.Val113Asp	VAR_006225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006225	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	447	cd00900	4557377,NP_000052
695	547759	Disease	p.Val113Asp	VAR_006225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006225	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	393	cd00821	4557377,NP_000052
695	547759	Disease	p.Val113Asp	VAR_006225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006225	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	886	smart00233	4557377,NP_000052
695	547759	Disease	p.Val113Asp	VAR_006225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006225	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	pfam00169	4557377,NP_000052
695	547759	Disease	p.Val113Asp	VAR_006225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006225	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd01238	4557377,NP_000052
695	547759	Disease	p.Ser115Phe	VAR_008298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008298	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	449	cd00900	4557377,NP_000052
695	547759	Disease	p.Ser115Phe	VAR_008298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008298	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	395	cd00821	4557377,NP_000052
695	547759	Disease	p.Ser115Phe	VAR_008298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008298	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	888	smart00233	4557377,NP_000052
695	547759	Disease	p.Ser115Phe	VAR_008298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008298	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	278	pfam00169	4557377,NP_000052
695	547759	Disease	p.Ser115Phe	VAR_008298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008298	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd01238	4557377,NP_000052
695	547759	Disease	p.Thr117Pro	VAR_008299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008299	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	451	cd00900	4557377,NP_000052
695	547759	Disease	p.Thr117Pro	VAR_008299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008299	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	397	cd00821	4557377,NP_000052
695	547759	Disease	p.Thr117Pro	VAR_008299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008299	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	897	smart00233	4557377,NP_000052
695	547759	Disease	p.Thr117Pro	VAR_008299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008299	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	pfam00169	4557377,NP_000052
695	547759	Disease	p.Thr117Pro	VAR_008299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008299	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd01238	4557377,NP_000052
695	547759	Disease	p.Gln127His	VAR_008300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008300	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	463	cd00900	4557377,NP_000052
695	547759	Disease	p.Gln127His	VAR_008300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008300	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	413	cd00821	4557377,NP_000052
695	547759	Disease	p.Gln127His	VAR_008300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008300	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	923	smart00233	4557377,NP_000052
695	547759	Disease	p.Gln127His	VAR_008300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008300	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	pfam00169	4557377,NP_000052
695	547759	Disease	p.Gln127His	VAR_008300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008300	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd01238	4557377,NP_000052
695	547759	Disease	p.Cys154Ser	VAR_008301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008301	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	smart00107	4557377,NP_000052
695	547759	Disease	p.Cys154Ser	VAR_008301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008301	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17	pfam00779	4557377,NP_000052
695	547759	Disease	p.Cys155Gly	VAR_008302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008302	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	smart00107	4557377,NP_000052
695	547759	Disease	p.Cys155Gly	VAR_008302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008302	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	pfam00779	4557377,NP_000052
695	547759	Disease	p.Cys155Arg	VAR_008303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008303	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	smart00107	4557377,NP_000052
695	547759	Disease	p.Cys155Arg	VAR_008303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008303	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	pfam00779	4557377,NP_000052
695	547759	Disease	p.Thr184Pro	VAR_008304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008304	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	No Domain	N/A	4557377,NP_000052
695	547759	Disease	p.Arg288Gln	VAR_008305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008305	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd00173	4557377,NP_000052
695	547759	Disease	p.Arg288Gln	VAR_008305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008305	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	pfam00017	4557377,NP_000052
695	547759	Disease	p.Arg288Gln	VAR_008305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008305	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	smart00252	4557377,NP_000052
695	547759	Disease	p.Arg288Trp	VAR_006227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006227	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd00173	4557377,NP_000052
695	547759	Disease	p.Arg288Trp	VAR_006227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006227	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	pfam00017	4557377,NP_000052
695	547759	Disease	p.Arg288Trp	VAR_006227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006227	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	smart00252	4557377,NP_000052
695	547759	Disease	p.Leu295Pro	VAR_006228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006228	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd00173	4557377,NP_000052
695	547759	Disease	p.Leu295Pro	VAR_006228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006228	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	pfam00017	4557377,NP_000052
695	547759	Disease	p.Leu295Pro	VAR_006228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006228	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	28	smart00252	4557377,NP_000052
695	547759	Disease	p.Gly302Glu	VAR_006230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006230	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd00173	4557377,NP_000052
695	547759	Disease	p.Gly302Glu	VAR_006230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006230	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	pfam00017	4557377,NP_000052
695	547759	Disease	p.Gly302Glu	VAR_006230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006230	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	56	smart00252	4557377,NP_000052
695	547759	Disease	p.Gly302Arg	VAR_008306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008306	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd00173	4557377,NP_000052
695	547759	Disease	p.Gly302Arg	VAR_008306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008306	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	pfam00017	4557377,NP_000052
695	547759	Disease	p.Gly302Arg	VAR_008306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008306	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	56	smart00252	4557377,NP_000052
695	547759	Disease	p.Arg307Gly	VAR_006231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006231	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	44	cd00173	4557377,NP_000052
695	547759	Disease	p.Arg307Gly	VAR_006231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006231	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	pfam00017	4557377,NP_000052
695	547759	Disease	p.Arg307Gly	VAR_006231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006231	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	61	smart00252	4557377,NP_000052
695	547759	Disease	p.Arg307Thr	VAR_008307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008307	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	44	cd00173	4557377,NP_000052
695	547759	Disease	p.Arg307Thr	VAR_008307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008307	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	pfam00017	4557377,NP_000052
695	547759	Disease	p.Arg307Thr	VAR_008307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008307	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	61	smart00252	4557377,NP_000052
695	547759	Disease	p.Asp308Glu	VAR_008308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008308	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	45	cd00173	4557377,NP_000052
695	547759	Disease	p.Asp308Glu	VAR_008308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008308	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	pfam00017	4557377,NP_000052
695	547759	Disease	p.Asp308Glu	VAR_008308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008308	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	62	smart00252	4557377,NP_000052
695	547759	Disease	p.Val319Ala	VAR_008309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008309	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	62	cd00173	4557377,NP_000052
695	547759	Disease	p.Val319Ala	VAR_008309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008309	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	54	pfam00017	4557377,NP_000052
695	547759	Disease	p.Val319Ala	VAR_008309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008309	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	smart00252	4557377,NP_000052
695	547759	Disease	p.Tyr334Ser	VAR_006232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006232	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd00173	4557377,NP_000052
695	547759	Disease	p.Tyr334Ser	VAR_006232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006232	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	pfam00017	4557377,NP_000052
695	547759	Disease	p.Tyr334Ser	VAR_006232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006232	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	smart00252	4557377,NP_000052
695	547759	Disease	p.Leu358Phe	VAR_006233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006233	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd00173	4557377,NP_000052
695	547759	Disease	p.Leu358Phe	VAR_006233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006233	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	105	pfam00017	4557377,NP_000052
695	547759	Disease	p.Leu358Phe	VAR_006233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006233	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	10	cd05106	4557377,NP_000052
695	547759	Disease	p.Leu358Phe	VAR_006233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006233	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	335	smart00252	4557377,NP_000052
695	547759	Disease	p.Tyr361Cys	VAR_006234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006234	rs28935478 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd00173	4557377,NP_000052
695	547759	Disease	p.Tyr361Cys	VAR_006234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006234	rs28935478 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	pfam00017	4557377,NP_000052
695	547759	Disease	p.Tyr361Cys	VAR_006234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006234	rs28935478 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05106	4557377,NP_000052
695	547759	Disease	p.Tyr361Cys	VAR_006234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006234	rs28935478 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	338	smart00252	4557377,NP_000052
695	547759	Disease	p.His362Gln	VAR_006235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006235	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd00173	4557377,NP_000052
695	547759	Disease	p.His362Gln	VAR_006235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006235	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05106	4557377,NP_000052
695	547759	Disease	p.His362Gln	VAR_006235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006235	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	339	smart00252	4557377,NP_000052
695	547759	Disease	p.His364Pro	VAR_006236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006236	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd00173	4557377,NP_000052
695	547759	Disease	p.His364Pro	VAR_006236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006236	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	16	cd05106	4557377,NP_000052
695	547759	Disease	p.His364Pro	VAR_006236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006236	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	341	smart00252	4557377,NP_000052
695	547759	Disease	p.Asn365Tyr	VAR_006237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006237	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd00173	4557377,NP_000052
695	547759	Disease	p.Asn365Tyr	VAR_006237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006237	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17	cd05106	4557377,NP_000052
695	547759	Disease	p.Asn365Tyr	VAR_006237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006237	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	342	smart00252	4557377,NP_000052
695	547759	Disease	p.Ser366Phe	VAR_008310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008310	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd00173	4557377,NP_000052
695	547759	Disease	p.Ser366Phe	VAR_008310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008310	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd05106	4557377,NP_000052
695	547759	Disease	p.Ser366Phe	VAR_008310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008310	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	343	smart00252	4557377,NP_000052
695	547759	Disease	p.Leu369Phe	VAR_008311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008311	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd00173	4557377,NP_000052
695	547759	Disease	p.Leu369Phe	VAR_008311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008311	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd05106	4557377,NP_000052
695	547759	Disease	p.Ile370Met	VAR_006238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006238	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd00173	4557377,NP_000052
695	547759	Disease	p.Ile370Met	VAR_006238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006238	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd05106	4557377,NP_000052
695	547759	Disease	p.Arg372Gly	VAR_008312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008312	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	4	cd05055	4557377,NP_000052
695	547759	Disease	p.Arg372Gly	VAR_008312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008312	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd00173	4557377,NP_000052
695	547759	Disease	p.Arg372Gly	VAR_008312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008312	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05106	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd06608	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	12	cd06642	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd07870	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	12	cd06641	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	12	cd06640	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	11	cd07865	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd07873	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05100	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd07872	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd06638	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd06634	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd06607	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	45	cd05055	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05098	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05115	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	12	cd05080	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	7	cd07830	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	7	cd05035	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	7	cd05589	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	7	cd07835	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd05108	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd07829	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	7	cd05074	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	7	cd05075	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	7	smart00219	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	7	pfam00069	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	11	pfam07714	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	7	smart00221	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd06629	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	7	cd05118	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd05616	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd05583	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd07857	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd07836	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd05587	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd07841	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd07861	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd07842	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd08530	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd08219	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd06627	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd06606	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd05122	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd08222	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd08218	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd08529	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd07832	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	10	cd07834	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd05045	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd07839	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd08528	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd08217	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd05578	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd07860	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd08225	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd08215	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd08223	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	45	cd05107	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	45	cd05105	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	43	cd05104	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	27	cd06647	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	6	cd06917	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd05631	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd05605	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	6	cd08216	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd05632	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd06628	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05612	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	10	cd06609	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05580	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05573	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	47	COG0515	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	12	cd06616	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd06615	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	12	cd05574	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd06617	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd06623	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	10	cd08229	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	10	cd08224	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	16	cd05581	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	10	cd08228	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd06605	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd06621	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd06622	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd07847	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd06610	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd07846	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd07837	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd06658	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17	cd07866	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd07864	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd07844	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd07871	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05071	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	10	cd05089	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd07849	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05061	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05056	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05052	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05067	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05082	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05070	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05073	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05083	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05072	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05034	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05068	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05069	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05039	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05148	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	16	cd05032	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05036	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05062	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	28	cd06614	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	7	cd07831	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd07833	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd06618	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd06635	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05057	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17	cd06645	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd05111	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd05054	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd05103	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd05102	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	16	cd06624	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05053	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd05109	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	12	cd05033	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	12	cd05066	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd06611	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	12	cd05114	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	12	cd05059	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd05043	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	12	cd05113	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	12	cd05112	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd06643	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd07852	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd05110	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd05088	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05038	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	12	cd05081	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	12	cd05079	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	12	cd05065	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	46	cd05106	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	11	cd06613	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	10	cd06651	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	10	cd06625	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	10	cd06652	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	11	cd06612	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	10	cd06653	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	27	cd06648	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd05076	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05099	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd06644	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05116	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05060	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05086	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05042	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05087	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05593	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05570	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05590	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05592	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05591	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd06632	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05077	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05037	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd00192	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05078	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05058	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd06630	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05044	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05041	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05040	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05085	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05084	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	cd05619	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05063	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd06620	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd05051	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17	cd06646	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05049	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	27	cd06656	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	27	cd06655	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05091	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05050	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05090	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05064	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05048	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd07845	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05097	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05095	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05046	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05094	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd06637	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05093	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05096	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05092	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	29	cd06659	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd06619	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd05101	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	28	cd06654	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	7	cd07838	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	11	cd07840	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd06626	4557377,NP_000052
695	547759	Disease	p.Leu408Pro	VAR_006239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006239	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	8	cd08220	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd06608	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd06642	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd07870	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd06641	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd06640	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd07865	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd07873	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05100	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd07872	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd06638	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	29	cd06634	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	29	cd06607	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd05055	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd05098	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05115	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd05080	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd07830	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05035	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05589	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd07835	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd05108	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd07829	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05074	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05075	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	smart00219	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	pfam00069	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17	pfam07714	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	smart00221	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd06629	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05118	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05616	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05583	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd07857	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd07836	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05587	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd07841	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd07861	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd07842	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd08530	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd08219	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd06627	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd06606	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd05122	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd08222	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd08218	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd08529	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd07832	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	16	cd07834	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05045	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd07839	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd08528	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd08217	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05578	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd07860	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd08225	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd08215	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd08223	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd05107	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd05105	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd05104	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd06647	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd06917	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05631	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05605	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	12	cd08216	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd05632	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd06628	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd05612	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	16	cd06609	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd05580	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd05573	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	57	COG0515	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd06616	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd06615	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd05574	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd06617	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd06623	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	16	cd08229	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	16	cd08224	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd05581	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	16	cd08228	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd06605	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd06621	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd06622	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd07847	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd06610	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd07846	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd07837	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd06658	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd07866	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd07864	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd07844	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd07871	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05071	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	16	cd05089	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd07849	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05061	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05056	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05052	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05067	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05082	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05070	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05073	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05083	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05072	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05034	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05068	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05069	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05039	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05148	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd05032	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05036	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05062	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd06614	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd07831	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd07833	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	3	smart00220	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	29	cd06618	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd06635	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd05057	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd06645	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd05111	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd05054	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd05103	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd05102	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd06624	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05053	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd05109	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd05033	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd05066	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd06611	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd05114	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd05059	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd05043	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd05113	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd05112	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd06643	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd07852	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd05110	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd05088	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd05038	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd05081	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd05079	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd05065	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd05106	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17	cd06613	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	16	cd06651	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	16	cd06625	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	16	cd06652	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17	cd06612	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	16	cd06653	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd06648	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	27	cd05076	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05099	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd06644	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05116	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05060	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05086	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05042	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05087	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05593	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05570	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05590	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05592	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05591	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd06632	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05077	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05037	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd00192	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05078	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05058	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd06630	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05044	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05041	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05040	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05085	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05084	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05619	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd05063	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd06620	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	27	cd05051	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd06646	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd05049	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd06656	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd06655	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd05091	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd05050	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd05090	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd05064	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd05048	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd07845	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd05097	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd05095	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd05046	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd05094	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd06637	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd05093	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd05096	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd05092	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	7	cd05577	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd06631	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	7	cd05123	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	9	cd05047	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	10	cd00180	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd08221	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	7	cd05579	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	7	cd05572	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd06659	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd06619	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	29	cd05101	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd06654	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd07843	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd07838	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17	cd07840	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	15	cd06626	4557377,NP_000052
695	547759	Disease	p.Gly414Arg	VAR_008313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008313	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd08220	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd06608	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd06642	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd07870	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd06641	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd06640	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd07865	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd07873	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd05100	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd07872	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd06638	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd06634	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd06607	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	59	cd05055	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05098	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05115	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd05080	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17	cd07830	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17	cd05035	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17	cd05589	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17	cd07835	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd05108	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd07829	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17	cd05074	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17	cd05075	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17	smart00219	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	pfam00069	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	pfam07714	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17	smart00221	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd06629	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd05118	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd05616	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd05583	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd07857	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd07836	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd05587	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd07841	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd07861	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd07842	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17	cd08530	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd08219	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd06627	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd06606	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd05122	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd08222	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd08218	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17	cd08529	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd07832	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd07834	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd05045	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd07839	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd08528	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17_G	cd08217	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd05578	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd07860	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd08225	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd08215	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd08223	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	55	cd05107	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	59	cd05105	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	57	cd05104	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd06647	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd06917	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05631	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05605	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd08216	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05632	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd06628	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd05612	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18_G	cd06609	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd05580	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd05573	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	61	COG0515	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd06616	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd06615	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd05574	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd06617	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd06623	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd08229	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd08224	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05581	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd08228	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd06605	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd06621	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd06622	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18_G	cd07847	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd06610	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd07846	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd07837	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd06658	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	27	cd07866	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd07864	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd07844	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd07871	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05071	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05089	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd07849	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05061	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05056	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05052	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05067	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05082	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05070	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05073	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05083	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05072	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05034	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05068	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05069	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05039	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05148	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05032	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05036	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05062	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd06614	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd07831	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd07833	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	7	smart00220	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd06618	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	43	cd06635	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05057	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	28	cd06645	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd05111	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd05054	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	29	cd05103	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd05102	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd06624	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd05053	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd05109	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd05033	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd05066	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd06611	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd05114	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd05059	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd05043	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd05113	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd05112	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd06643	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd07852	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd05110	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd05088	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd05038	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd05081	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd05079	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd05065	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	60	cd05106	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd06613	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd06651	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd06625	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd06652	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd06612	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22	cd06653	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd06648	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd05076	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd05099	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd06644	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05116	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05060	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05086	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05042	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05087	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05593	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05570	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05590	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05592	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05591	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd06632	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05077	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05037	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd00192	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05078	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05058	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd06630	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	20	cd05044	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05041	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05040	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05085	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05084	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	13	cd05619	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd05063	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd06620	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	59	cd05051	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	28	cd06646	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd05049	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd06656	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd06655	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd05091	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd05050	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd05090	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd05064	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd05048	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd07845	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd05097	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd05095	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd05046	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	29	cd05094	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd06637	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	27	cd05093	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd05096	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	29	cd05092	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05577	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd06631	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	11	cd05123	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	16	cd05047	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	14	cd00180	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd08221	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	11	cd05579	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	11	cd05572	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd06659	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd06619	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05101	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd06654	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	22_G	cd07843	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	17	cd07838	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	21	cd07840	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	19	cd06626	4557377,NP_000052
695	547759	Disease	p.Tyr418His	VAR_006240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006240	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	18	cd08220	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd06608	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd06642	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd07870	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd06641	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd06640	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	43	cd07865	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd07873	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd05100	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd07872	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	48	cd06638	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	45	cd06634	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	45	cd06607	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd05055	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	55	cd05098	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	27	cd05115	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd05080	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	62	cd07830	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd05035	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	29	cd05589	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd07835	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05108	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd07829	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd05074	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd05075	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	101	smart00219	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	pfam00069	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	pfam07714	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	104	smart00221	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	48	cd06629	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	29	cd05118	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd05616	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd05583	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd07857	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd07836	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd05587	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd07841	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd07861	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd07842	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd08530	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd08219	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd06627	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	43	cd06606	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	45	cd05122	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd08222	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd08218	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd08529	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd07832	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	48	cd07834	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05045	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd07839	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd08528	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd08217	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd05578	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd07860	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	27	cd08225	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd08215	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd08223	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd05107	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd05105	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd05104	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd06647	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd06917	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05631	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05605	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd08216	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05632	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd06628	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd05612	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	44	cd06609	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	78	cd05580	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	56	cd05573	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	COG0515	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd06616	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd06615	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd05574	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd06617	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd06623	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd08229	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd08224	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05581	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd08228	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd06605	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd06621	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd06622	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	28	cd07847	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd06610	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd07846	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd07837	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd06658	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd07866	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd07864	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd07844	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd07871	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05071	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd05089	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd07849	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05061	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	cd05056	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05052	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05067	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd05082	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05070	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05073	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd05083	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05072	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05034	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05068	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05069	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd05039	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05148	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd05032	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05036	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05062	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	55	cd06614	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	29	cd07831	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd07833	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	60	smart00220	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	45	cd06618	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	55	cd06635	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	61	cd05057	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd06645	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05111	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd05054	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd05103	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd05102	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd06624	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd05053	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05109	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	61	cd05033	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd05066	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd06611	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd05114	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd05059	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	54	cd05043	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd05113	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd05112	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd06643	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd07852	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05110	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd05088	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd05038	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd05081	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd05079	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd05065	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	74	cd05106	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd06613	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd06651	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd06625	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd06652	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd06612	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd06653	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd06648	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd05076	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd05099	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd06644	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	27	cd05116	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd05060	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05086	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd05042	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05087	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd05593	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd05570	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd05590	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd05592	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd05591	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd06632	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd05077	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd05037	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd00192	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd05078	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05058	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd06630	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd05044	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd05041	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	29	cd05040	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd05085	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd05084	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd05619	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd05063	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd06620	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd05051	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd06646	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd05049	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd06656	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd06655	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd05091	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd05050	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd05090	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd05064	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05048	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd07845	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd05097	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	54	cd05095	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	100	cd05046	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd05094	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd06637	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd05093	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd05096	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd05092	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd05577	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	29	cd06631	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05123	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	27	cd05047	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	cd00180	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd08221	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	23	cd05579	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd05572	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd06659	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd06619	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd05101	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd06654	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd07843	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd07838	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd07840	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd06626	4557377,NP_000052
695	547759	Disease	p.Ile429Asn	VAR_006241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006241	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd08220	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd06608	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd06642	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd07870	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd06641	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd06640	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	44	cd07865	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd07873	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd05100	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd07872	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd06638	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	47	cd06634	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	47	cd06607	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd05055	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	56	cd05098	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	28	cd05115	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd05080	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	cd07830	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	43	cd05035	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd05589	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd07835	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd05108	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd07829	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd05074	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd05075	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	102	smart00219	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	pfam00069	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	54	pfam07714	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	smart00221	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd06629	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd05118	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd05616	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd05583	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd07857	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd07836	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd05587	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd07841	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd07861	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd07842	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd08530	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd08219	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd06627	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	44	cd06606	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	46	cd05122	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd08222	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd08218	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd08529	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd07832	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd07834	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05045	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd07839	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd08528	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd08217	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd05578	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd07860	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	28	cd08225	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd08215	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd08223	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd05107	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd05105	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd05104	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd06647	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd06917	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05631	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05605	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd08216	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05632	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd06628	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd05612	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	45	cd06609	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	79	cd05580	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	57	cd05573	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	COG0515	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd06616	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd06615	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd05574	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd06617	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd06623	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd08229	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd08224	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	cd05581	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd08228	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd06605	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd06621	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd06622	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	29	cd07847	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd06610	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd07846	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd07837	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd06658	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd07866	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd07864	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd07844	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd07871	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05071	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05089	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd07849	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd05061	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	64	cd05056	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd05052	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05067	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05082	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05070	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05073	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05083	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05072	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05034	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05068	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05069	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05039	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd05148	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd05032	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd05036	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd05062	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	56	cd06614	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd07831	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd07833	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	smart00220	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	46	cd06618	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	57	cd06635	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	62	cd05057	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd06645	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd05111	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	43	cd05054	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	43	cd05103	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	43	cd05102	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd06624	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd05053	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd05109	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	62	cd05033	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd05066	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd06611	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd05114	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd05059	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	55	cd05043	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd05113	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd05112	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd06643	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd07852	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd05110	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd05088	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05038	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd05081	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd05079	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd05065	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd05106	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd06613	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd06651	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd06625	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd06652	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd06612	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd06653	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd06648	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd05076	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd05099	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	43	cd06644	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	28	cd05116	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd05060	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd05086	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd05042	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd05087	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05593	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05570	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05590	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05592	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05591	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd06632	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd05077	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd05037	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd00192	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd05078	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05058	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd06630	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd05044	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05041	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd05040	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05085	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05084	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05619	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd05063	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd06620	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd05051	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd06646	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05049	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd06656	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd06655	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05091	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05050	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd05090	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd05064	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd05048	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd07845	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd05097	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	55	cd05095	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	101	cd05046	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05094	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd06637	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05093	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd05096	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05092	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd05577	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd06631	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	27	cd05123	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	28	cd05047	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	64	cd00180	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd08221	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05579	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd05572	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd06659	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd06619	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd05101	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd06654	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd07843	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd07838	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	54	cd07840	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd06626	4557377,NP_000052
695	547759	Disease	p.Lys430Glu	VAR_006242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006242	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd08220	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd06608	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd06642	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd07870	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd06641	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd06640	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	44	cd07865	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd07873	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd05100	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd07872	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd06638	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	47	cd06634	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	47	cd06607	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd05055	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	56	cd05098	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	28	cd05115	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd05080	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	cd07830	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	43	cd05035	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd05589	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd07835	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd05108	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd07829	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd05074	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd05075	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	102	smart00219	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	pfam00069	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	54	pfam07714	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	smart00221	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd06629	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd05118	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd05616	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd05583	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd07857	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd07836	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd05587	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd07841	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd07861	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd07842	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd08530	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd08219	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd06627	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	44	cd06606	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	46	cd05122	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd08222	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd08218	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd08529	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd07832	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd07834	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05045	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd07839	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd08528	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd08217	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd05578	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd07860	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	28	cd08225	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd08215	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd08223	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd05107	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd05105	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd05104	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd06647	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd06917	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05631	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05605	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd08216	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05632	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd06628	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd05612	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	45	cd06609	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	79	cd05580	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	57	cd05573	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	COG0515	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd06616	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd06615	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd05574	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd06617	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd06623	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd08229	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd08224	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	cd05581	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd08228	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd06605	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd06621	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd06622	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	29	cd07847	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd06610	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd07846	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd07837	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd06658	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd07866	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd07864	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd07844	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd07871	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05071	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05089	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd07849	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd05061	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	64	cd05056	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd05052	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05067	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05082	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05070	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05073	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05083	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05072	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05034	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05068	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05069	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	35	cd05039	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd05148	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd05032	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd05036	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd05062	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	56	cd06614	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd07831	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd07833	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	smart00220	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	46	cd06618	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	57	cd06635	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	62	cd05057	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd06645	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd05111	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	43	cd05054	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	43	cd05103	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	43	cd05102	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd06624	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd05053	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd05109	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	62	cd05033	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd05066	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd06611	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd05114	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd05059	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	55	cd05043	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd05113	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd05112	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd06643	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd07852	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd05110	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd05088	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05038	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd05081	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd05079	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd05065	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd05106	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd06613	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd06651	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd06625	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd06652	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd06612	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd06653	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd06648	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd05076	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd05099	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	43	cd06644	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	28	cd05116	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd05060	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd05086	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd05042	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	25	cd05087	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05593	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05570	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05590	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05592	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05591	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd06632	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	34	cd05077	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd05037	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd00192	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd05078	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd05058	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd06630	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd05044	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05041	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd05040	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05085	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05084	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	26	cd05619	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd05063	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	36	cd06620	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd05051	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd06646	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05049	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd06656	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd06655	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05091	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05050	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	40	cd05090	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	39	cd05064	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	42	cd05048	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	38	cd07845	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd05097	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	55	cd05095	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	101	cd05046	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05094	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd06637	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05093	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd05096	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	41	cd05092	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd05577	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	30	cd06631	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	27	cd05123	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	28	cd05047	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	64	cd00180	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	31	cd08221	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	24	cd05579	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd05572	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd06659	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd06619	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd05101	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd06654	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	37	cd07843	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd07838	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	54	cd07840	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	32	cd06626	4557377,NP_000052
695	547759	Disease	p.Lys430Arg	VAR_008314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008314	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	33	cd08220	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	cd06608	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd06642	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd07870	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd06641	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd06640	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	62	cd07865	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	54	cd07873	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	67	cd05100	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	54	cd07872	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	64	cd06638	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	65	cd06634	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	65	cd06607	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd05055	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd05098	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	45	cd05115	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	56	cd05080	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd07830	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	61	cd05035	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd05589	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd07835	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	59	cd05108	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	55	cd07829	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd05074	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd05075	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	smart00219	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	78	pfam00069	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	pfam07714	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	smart00221	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	60_G	cd06629	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd05118	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	46	cd05616	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	54	cd05583	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd07857	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	48	cd07836	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	46	cd05587	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	cd07841	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd07861	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07842	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd08530	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	48	cd08219	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	54	cd06627	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd06606	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	65	cd05122	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd08222	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd08218	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd08529	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd07832	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd07834	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd05045	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd07839	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	67	cd08528	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd08217	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd05578	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd07860	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd08225	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	67	cd08215	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd08223	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd05107	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd05105	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd05104	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd06647	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd06917	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd05631	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd05605	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd08216	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd05632	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	58	cd06628	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd05612	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	62	cd06609	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	98	cd05580	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05573	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	COG0515	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	59	cd06616	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd06615	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05574	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd06617	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	59	cd06623	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd08229	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd08224	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	97	cd05581	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd08228	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd06605	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd06621	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd06622	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd07847	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd06610	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd07846	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	50	cd07837	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd06658	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	58	cd07866	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	56	cd07864	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd07844	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd07871	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd05071	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd05089	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd07849	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	59	cd05061	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd05056	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd05052	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd05067	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd05082	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd05070	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd05073	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd05083	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd05072	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd05034	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd05068	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd05069	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd05039	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd05148	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd05032	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	59	cd05036	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	59	cd05062	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	78	cd06614	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	47	cd07831	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd07833	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	smart00220	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	57	cd06618	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd06635	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05057	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	55	cd06645	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	59	cd05111	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	60	cd05054	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	60	cd05103	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	60	cd05102	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	55	cd06624	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	67	cd05053	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	59	cd05109	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	79	cd05033	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	55	cd05066	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd06611	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd05114	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd05059	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd05043	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd05113	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd05112	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd06643	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	57	cd07852	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	59	cd05110	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	57	cd05088	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	60	cd05038	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	55	cd05081	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	56	cd05079	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	55	cd05065	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	92	cd05106	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd06613	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	54	cd06651	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	54	cd06625	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	54	cd06652	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	59	cd06612	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	54	cd06653	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd06648	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05076	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	67	cd05099	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	59	cd06644	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	46	cd05116	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd05060	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	45	cd05086	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	48	cd05042	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	45	cd05087	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	45	cd05593	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	45	cd05570	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	45	cd05590	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	46	cd05592	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	46	cd05591	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	59	cd06632	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	54	cd05077	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05037	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	100	cd00192	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd05078	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd05058	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd06630	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd05044	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	44	cd05041	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd05040	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	43	cd05085	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	43	cd05084	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	45	cd05619	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	57	cd05063	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	53	cd06620	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	91	cd05051	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	55	cd06646	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	58	cd05049	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd06656	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd06655	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	58	cd05091	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	58	cd05050	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	57	cd05090	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	56	cd05064	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	59	cd05048	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	56	cd07845	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd05097	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd05095	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05046	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	57	cd05094	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd06637	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	57	cd05093	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd05096	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	57	cd05092	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	43	cd05577	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd06631	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd05123	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	45	cd05047	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd00180	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	49	cd08221	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	44	cd05579	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	92	cd05572	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd06659	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd06619	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd05101	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	67	cd06654	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	58	cd07843	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	45	cd07838	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd07840	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	52	cd06626	4557377,NP_000052
695	547759	Disease	p.Glu445Asp	VAR_008315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008315	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	51	cd08220	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	95	cd06608	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd06642	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd07870	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd06641	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd06640	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	79	cd07865	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd07873	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd05100	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd07872	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd06638	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd06634	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd06607	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05055	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	91	cd05098	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	62	cd05115	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd05080	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	100	cd07830	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	78	cd05035	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd05589	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd07835	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05108	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd07829	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05074	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	67	cd05075	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	smart00219	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	103	pfam00069	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	102	pfam07714	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	smart00221	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd06629	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd05118	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05616	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd05583	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd07857	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	65	cd07836	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd05587	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd07841	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	67	cd07861	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd07842	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	67	cd08530	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	65	cd08219	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd06627	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06606	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd05122	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd08222	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd08218	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd08529	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd07832	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	96	cd07834	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd05045	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd07839	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd08528	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd08217	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	67	cd05578	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd07860	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd08225	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd08215	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd08223	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05107	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05105	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05104	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd06647	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd06917	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05631	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05605	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd08216	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05632	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd06628	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05612	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80	cd06609	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05580	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05573	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	367	COG0515	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	cd06616	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd06615	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd05574	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	67	cd06617	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd06623	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd08229	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd08224	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05581	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd08228	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd06605	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd06621	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd06622	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	67	cd07847	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd06610	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd07846	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd07837	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd06658	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd07866	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd07864	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd07844	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd07871	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05071	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd05089	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	74	cd07849	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05061	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	103	cd05056	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd05052	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05067	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05082	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05070	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05073	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05083	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05072	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05034	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05068	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05069	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd05039	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd05148	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd05032	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05036	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05062	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	95	cd06614	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	65	cd07831	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd07833	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	smart00220	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd06618	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	92	cd06635	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05057	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd06645	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05111	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	78	cd05054	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	78	cd05103	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	78	cd05102	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd06624	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd05053	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05109	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	96	cd05033	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd05066	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd06611	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05114	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05059	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd05043	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05113	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05112	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd06643	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd07852	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05110	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd05088	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	cd05038	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd05081	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd05079	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd05065	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd05106	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd06613	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd06651	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd06625	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd06652	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	cd06612	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd06653	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd06648	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd05076	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd05099	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd06644	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	cd05116	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05060	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	62	cd05086	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	65	cd05042	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	62	cd05087	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	cd05593	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	64_G	cd05570	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	cd05590	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	cd05592	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	cd05591	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd06632	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd05077	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd05037	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd00192	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05078	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd05058	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd06630	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05044	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	61	cd05041	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05040	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	60	cd05085	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	60	cd05084	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	cd05619	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	74	cd05063	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd06620	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05051	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd06646	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd05049	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd06656	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd06655	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd05091	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd05050	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	74	cd05090	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd05064	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05048	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd07845	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd05097	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd05095	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05046	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	74	cd05094	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd06637	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	74	cd05093	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd05096	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	74	cd05092	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	64	cd05577	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd06631	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	101	cd05123	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	cd05047	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd00180	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd08221	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	62	cd05579	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05572	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd06659	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	87	cd06619	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd05101	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd06654	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd07843	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	74	cd07838	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	93	cd07840	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd06626	4557377,NP_000052
695	547759	Disease	p.Gly462Asp	VAR_008316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008316	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd08220	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	95	cd06608	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd06642	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd07870	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd06641	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd06640	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	79	cd07865	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd07873	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd05100	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd07872	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd06638	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd06634	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd06607	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05055	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	91	cd05098	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	62	cd05115	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd05080	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	100	cd07830	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	78	cd05035	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd05589	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd07835	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05108	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd07829	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05074	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	67	cd05075	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	smart00219	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	103	pfam00069	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	102	pfam07714	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	smart00221	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd06629	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd05118	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05616	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd05583	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd07857	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	65	cd07836	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd05587	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd07841	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	67	cd07861	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd07842	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	67	cd08530	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	65	cd08219	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd06627	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06606	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd05122	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd08222	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd08218	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd08529	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd07832	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	96	cd07834	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd05045	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd07839	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd08528	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd08217	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	67	cd05578	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd07860	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd08225	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd08215	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd08223	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05107	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05105	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05104	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd06647	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd06917	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05631	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05605	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd08216	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05632	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd06628	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05612	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80	cd06609	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05580	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05573	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	367	COG0515	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	cd06616	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd06615	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd05574	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	67	cd06617	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd06623	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd08229	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd08224	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05581	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd08228	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd06605	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd06621	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd06622	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	67	cd07847	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd06610	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd07846	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd07837	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd06658	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd07866	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd07864	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd07844	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd07871	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05071	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd05089	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	74	cd07849	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05061	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	103	cd05056	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd05052	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05067	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05082	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05070	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05073	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05083	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05072	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05034	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05068	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05069	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd05039	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd05148	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd05032	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05036	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05062	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	95	cd06614	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	65	cd07831	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd07833	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	smart00220	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd06618	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	92	cd06635	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05057	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd06645	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05111	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	78	cd05054	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	78	cd05103	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	78	cd05102	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd06624	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd05053	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05109	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	96	cd05033	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd05066	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd06611	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05114	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05059	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd05043	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05113	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05112	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd06643	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd07852	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05110	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd05088	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	cd05038	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd05081	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd05079	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	72	cd05065	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd05106	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd06613	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd06651	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd06625	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd06652	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	cd06612	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd06653	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd06648	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd05076	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd05099	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd06644	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	cd05116	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd05060	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	62	cd05086	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	65	cd05042	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	62	cd05087	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	cd05593	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	64_G	cd05570	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	cd05590	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	cd05592	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	cd05591	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd06632	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	71	cd05077	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd05037	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd00192	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05078	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd05058	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd06630	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05044	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	61	cd05041	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd05040	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	60	cd05085	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	60	cd05084	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	cd05619	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	74	cd05063	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd06620	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05051	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd06646	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd05049	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd06656	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd06655	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd05091	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd05050	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	74	cd05090	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd05064	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05048	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	73	cd07845	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd05097	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd05095	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05046	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	74	cd05094	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	70	cd06637	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	74	cd05093	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd05096	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	74	cd05092	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	64	cd05577	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd06631	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	101	cd05123	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	63	cd05047	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd00180	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	66	cd08221	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	62	cd05579	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05572	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd06659	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	87	cd06619	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd05101	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd06654	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd07843	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	74	cd07838	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	93	cd07840	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	69	cd06626	4557377,NP_000052
695	547759	Disease	p.Gly462Val	VAR_008317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008317	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	68	cd08220	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd06608	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd06642	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd07870	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd06641	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd06640	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	105	cd07865	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd07873	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	99	cd05100	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd07872	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	101	cd06638	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	96	cd06634	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	96	cd06607	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05055	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	105	cd05098	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd05115	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd05080	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd07830	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	98	cd05035	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd05589	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	87	cd07835	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd05108	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd07829	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd05074	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	87	cd05075	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	smart00219	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	pfam00069	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	pfam07714	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	373	smart00221	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd06629	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd05118	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd05616	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd05583	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	91	cd07857	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	79	cd07836	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	87	cd05587	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	96	cd07841	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd07861	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd07842	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd08530	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	79	cd08219	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd06627	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd06606	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	105	cd05122	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd08222	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80	cd08218	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd08529	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	93	cd07832	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd07834	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd05045	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80	cd07839	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	98_G	cd08528	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd08217	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd05578	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80	cd07860	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80	cd08225	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd08215	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd08223	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05107	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05105	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05104	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	97	cd06647	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd06917	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd05631	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd05605	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd08216	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd05632	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd06628	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd05612	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	96	cd06609	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05580	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05573	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	429	COG0515	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	91	cd06616	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80	cd06615	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	102	cd05574	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd06617	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	105	cd06623	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd08229	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd08224	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05581	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd08228	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd06605	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd06621	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80	cd06622	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd07847	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd06610	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd07846	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	94	cd07837	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	100	cd06658	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd07866	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	98	cd07864	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd07844	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd07871	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd05071	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd05089	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	93	cd07849	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd05061	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05056	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd05052	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd05067	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd05082	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd05070	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd05073	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	79	cd05083	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd05072	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd05034	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd05068	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd05069	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd05039	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd05148	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05032	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd05036	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd05062	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd06614	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd07831	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	103	cd07833	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	305	smart00220	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	95	cd06618	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd06635	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05057	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	87	cd06645	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd05111	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	93	cd05054	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	93	cd05103	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	93	cd05102	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	91	cd06624	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	99	cd05053	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd05109	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd05033	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd05066	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd06611	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80	cd05114	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80	cd05059	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05043	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80	cd05113	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80	cd05112	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd06643	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	91	cd07852	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd05110	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd05088	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	99	cd05038	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd05081	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd05079	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd05065	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05106	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd06613	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	87	cd06651	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	87	cd06625	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	87	cd06652	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	92	cd06612	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	87	cd06653	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	97	cd06648	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	97	cd05076	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	99	cd05099	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd06644	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05116	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd05060	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05086	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	79	cd05042	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05087	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05593	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	79	cd05570	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	cd05590	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	cd05592	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	cd05591	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	100	cd06632	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd05077	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	97	cd05037	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd00192	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80	cd05078	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd05058	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd06630	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80	cd05044	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd05041	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd05040	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	74	cd05085	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	74	cd05084	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	cd05619	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd05063	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd06620	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05051	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	87	cd06646	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	91	cd05049	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	97	cd06656	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	97	cd06655	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd05091	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd05050	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd05090	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	87	cd05064	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd05048	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd07845	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	100	cd05097	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	103	cd05095	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05046	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd05094	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd06637	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd05093	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	100	cd05096	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd05092	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76_G	cd05577	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd06631	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05123	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	cd05047	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd00180	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80	cd08221	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05579	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05572	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	99	cd06659	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	101	cd06619	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	102	cd05101	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	98	cd06654	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	95	cd07843	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	105	cd07838	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd07840	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd06626	4557377,NP_000052
695	547759	Disease	p.Tyr476Asp	VAR_006243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006243	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd08220	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06608	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd06642	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd07870	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd06641	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd06640	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	105_G	cd07865	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd07873	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	100	cd05100	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd07872	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	102	cd06638	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	97	cd06634	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	97	cd06607	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05055	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05098	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05115	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd05080	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd07830	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	99	cd05035	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd05589	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd07835	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd05108	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd07829	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd05074	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd05075	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	smart00219	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	pfam00069	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	pfam07714	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	374	smart00221	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd06629	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd05118	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd05616	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	87	cd05583	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	92	cd07857	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80	cd07836	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd05587	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	97	cd07841	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd07861	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177_G	cd07842	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd08530	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80	cd08219	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	87	cd06627	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd06606	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05122	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd08222	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd08218	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd08529	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	94	cd07832	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd07834	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd05045	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80_G	cd07839	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	99	cd08528	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd08217	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd05578	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd07860	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd08225	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd08215	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd08223	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05107	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05105	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05104	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	98	cd06647	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd06917	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd05631	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd05605	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd08216	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd05632	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd06628	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd05612	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	97	cd06609	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05580	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05573	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	430	COG0515	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	92	cd06616	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd06615	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	103	cd05574	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd06617	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd06623	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd08229	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd08224	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05581	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd08228	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd06605	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd06621	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd06622	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd07847	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd06610	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd07846	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	95	cd07837	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	101	cd06658	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd07866	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	99	cd07864	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd07844	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd07871	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd05071	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd05089	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	94	cd07849	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	91	cd05061	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05056	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd05052	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd05067	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd05082	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd05070	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd05073	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80	cd05083	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd05072	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd05034	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd05068	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd05069	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd05039	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd05148	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05032	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	91	cd05036	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	91	cd05062	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd06614	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd07831	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	104	cd07833	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	307	smart00220	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	96	cd06618	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd06635	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05057	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd06645	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd05111	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	94	cd05054	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	94	cd05103	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	94	cd05102	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	92	cd06624	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	100	cd05053	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd05109	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05033	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	87	cd05066	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd06611	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd05114	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd05059	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05043	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd05113	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd05112	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd06643	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	92	cd07852	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd05110	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd05088	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	100	cd05038	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd05081	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd05079	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	87	cd05065	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05106	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd06613	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd06651	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd06625	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd06652	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	93	cd06612	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd06653	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	98	cd06648	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	98	cd05076	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	100	cd05099	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	91	cd06644	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	cd05116	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd05060	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	cd05086	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80	cd05042	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	cd05087	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	cd05593	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	80	cd05570	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	78	cd05590	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	78	cd05592	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	78	cd05591	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	101	cd06632	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd05077	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	98	cd05037	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd00192	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd05078	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd05058	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	85	cd06630	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd05044	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	76	cd05041	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	82	cd05040	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd05085	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	75	cd05084	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	78	cd05619	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd05063	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	87	cd06620	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05051	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd06646	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	92	cd05049	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	98	cd06656	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	98	cd06655	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd05091	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	90	cd05050	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd05090	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	88	cd05064	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	91	cd05048	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89_G	cd07845	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	101	cd05097	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	104	cd05095	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05046	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd05094	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	91	cd06637	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd05093	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	101	cd05096	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	89	cd05092	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	cd05577	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	86	cd06631	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05123	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	78	cd05047	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd00180	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	81	cd08221	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	77	cd05579	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05572	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	100	cd06659	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	102	cd06619	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	103	cd05101	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	99	cd06654	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	96	cd07843	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd07838	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd07840	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	84	cd06626	4557377,NP_000052
695	547759	Disease	p.Met477Arg	VAR_006244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006244	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	83	cd08220	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06608	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd06642	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd07870	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd06641	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd06640	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd07865	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd07873	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05100	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd07872	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06638	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06634	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06607	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05055	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05098	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	101	cd05115	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05080	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd07830	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05035	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd05589	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd07835	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05108	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd07829	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05074	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05075	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	390	smart00219	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	pfam00069	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	pfam07714	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	460	smart00221	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06629	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05118	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd05616	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05583	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119_G	cd07857	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd07836	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05587	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125_G	cd07841	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd07861	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd07842	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd08530	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd08219	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd06627	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd06606	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05122	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd08222	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd08218	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117_G	cd08529	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd07832	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153_G	cd07834	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05045	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	105	cd07839	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd08528	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd08217	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05578	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd07860	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd08225	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd08215	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd08223	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05107	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05105	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05104	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06647	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd06917	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05631	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05605	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	104	cd08216	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05632	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd06628	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd05612	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd06609	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05580	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05573	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	476	COG0515	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06616	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd06615	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05574	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd06617	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06623	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	105	cd08229	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd08224	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05581	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd08228	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd06605	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06621	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd06622	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd07847	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd06610	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd07846	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd07837	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd06658	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd07866	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd07864	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd07844	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd07871	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05071	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05089	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd07849	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05061	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05056	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd05052	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05067	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05082	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05070	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05073	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05083	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05072	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05034	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05068	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05069	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05039	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05148	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05032	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05036	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05062	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd06614	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd07831	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07833	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	374	smart00220	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd06618	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06635	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05057	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd06645	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05111	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd05054	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05103	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05102	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd06624	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05053	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05109	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05033	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05066	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd06611	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05114	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05059	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05043	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd05113	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05112	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd06643	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119_G	cd07852	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05110	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05088	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05038	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05081	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05079	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05065	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05106	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd06613	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd06651	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116_G	cd06625	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd06652	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06612	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd06653	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06648	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05076	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05099	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06644	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	101	cd05116	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05060	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	103	cd05086	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05042	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05087	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	101	cd05593	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	104	cd05570	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	102	cd05590	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	102	cd05592	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	102	cd05591	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129_G	cd06632	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05077	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05037	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	313	cd00192	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05078	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05058	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd06630	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05044	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	102	cd05041	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd05040	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	100	cd05085	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	100	cd05084	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	102	cd05619	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05063	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd06620	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05051	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd06646	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05049	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06656	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06655	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05091	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05050	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05090	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05064	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05048	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd07845	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05097	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05095	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05046	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05094	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd06637	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05093	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd05096	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05092	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05577	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114_G	cd06631	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	621	cd05123	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05047	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	336	cd00180	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd08221	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106_G	cd05579	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05572	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd06659	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06619	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05101	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06654	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd07843	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd07838	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd07840	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112_G	cd06626	4557377,NP_000052
695	547759	Disease	p.Cys502Phe	VAR_006245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006245	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd08220	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06608	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd06642	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd07870	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd06641	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd06640	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd07865	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd07873	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05100	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd07872	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06638	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06634	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06607	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05055	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05098	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	101	cd05115	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05080	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd07830	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05035	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd05589	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd07835	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05108	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd07829	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05074	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05075	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	390	smart00219	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	pfam00069	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	pfam07714	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	460	smart00221	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06629	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05118	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd05616	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05583	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119_G	cd07857	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd07836	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05587	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125_G	cd07841	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd07861	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd07842	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd08530	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd08219	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd06627	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd06606	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05122	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd08222	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd08218	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117_G	cd08529	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd07832	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153_G	cd07834	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05045	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	105	cd07839	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd08528	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd08217	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05578	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd07860	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd08225	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd08215	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd08223	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05107	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05105	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05104	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06647	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd06917	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05631	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05605	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	104	cd08216	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05632	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd06628	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd05612	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd06609	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05580	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05573	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	476	COG0515	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06616	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd06615	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05574	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd06617	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06623	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	105	cd08229	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd08224	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05581	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd08228	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd06605	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06621	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd06622	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd07847	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd06610	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd07846	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd07837	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd06658	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd07866	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd07864	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd07844	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd07871	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05071	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05089	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd07849	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05061	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05056	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd05052	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05067	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05082	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05070	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05073	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05083	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05072	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05034	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05068	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05069	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05039	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05148	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05032	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05036	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05062	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd06614	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd07831	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07833	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	374	smart00220	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd06618	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06635	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05057	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd06645	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05111	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd05054	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05103	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05102	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd06624	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05053	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05109	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05033	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05066	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd06611	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05114	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05059	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05043	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd05113	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05112	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd06643	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119_G	cd07852	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05110	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05088	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05038	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05081	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05079	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05065	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05106	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd06613	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd06651	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116_G	cd06625	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd06652	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06612	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd06653	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06648	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05076	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05099	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06644	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	101	cd05116	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05060	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	103	cd05086	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05042	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05087	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	101	cd05593	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	104	cd05570	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	102	cd05590	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	102	cd05592	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	102	cd05591	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129_G	cd06632	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05077	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05037	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	313	cd00192	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05078	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05058	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd06630	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05044	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	102	cd05041	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd05040	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	100	cd05085	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	100	cd05084	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	102	cd05619	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05063	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd06620	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05051	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd06646	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05049	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06656	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06655	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05091	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05050	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05090	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05064	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05048	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd07845	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05097	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05095	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05046	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05094	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd06637	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05093	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd05096	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05092	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05577	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114_G	cd06631	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	621	cd05123	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05047	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	336	cd00180	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd08221	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106_G	cd05579	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05572	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd06659	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06619	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05101	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06654	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd07843	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd07838	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd07840	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112_G	cd06626	4557377,NP_000052
695	547759	Disease	p.Cys502Trp	VAR_006246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006246	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd08220	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd06608	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd06642	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd07870	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd06641	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd06640	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07865	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd07873	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05100	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd07872	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06638	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06634	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06607	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05055	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05098	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	105	cd05115	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05080	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd07830	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05035	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05589	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd07835	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05108	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd07829	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05074	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05075	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	394	smart00219	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	pfam00069	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	pfam07714	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	471	smart00221	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd06629	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05118	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05616	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05583	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd07857	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd07836	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05587	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd07841	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd07861	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd07842	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd08530	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd08219	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd06627	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd06606	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05122	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd08222	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd08218	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117_G	cd08529	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd07832	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153_G	cd07834	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05045	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd07839	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd08528	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd08217	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05578	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd07860	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd08225	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd08215	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd08223	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05107	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05105	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05104	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06647	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd06917	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05631	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05605	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd08216	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05632	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd06628	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05612	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06609	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05580	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167_G	cd05573	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	480	COG0515	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd06616	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd06615	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05574	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd06617	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06623	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd08229	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd08224	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05581	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd08228	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06605	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd06621	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd06622	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd07847	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06610	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd07846	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07837	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06658	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd07866	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07864	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd07844	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd07871	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05071	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05089	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd07849	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05061	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05056	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05052	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05067	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05082	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05070	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05073	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd05083	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05072	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05034	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05068	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05069	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05039	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05148	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd05032	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05036	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05062	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd06614	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd07831	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd07833	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	378	smart00220	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06618	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06635	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05057	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06645	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05111	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05054	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05103	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05102	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd06624	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd05053	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05109	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05033	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05066	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd06611	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd05114	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05059	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05043	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05113	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd05112	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd06643	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119_G	cd07852	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05110	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05088	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05038	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05081	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05079	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05065	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05106	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd06613	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06651	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116_G	cd06625	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06652	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06612	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06653	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06648	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05076	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05099	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd06644	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	105	cd05116	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05060	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd05086	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05042	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05087	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	105	cd05593	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05570	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05590	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05592	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05591	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129_G	cd06632	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05077	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05037	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	317	cd00192	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05078	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05058	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd06630	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05044	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05041	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05040	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	104	cd05085	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	104	cd05084	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05619	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05063	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd06620	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05051	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06646	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05049	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06656	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06655	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05091	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05050	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05090	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05064	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05048	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07845	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05097	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05095	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05046	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05094	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06637	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05093	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05096	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05092	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd05577	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114_G	cd06631	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	625	cd05123	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05047	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	340	cd00180	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd08221	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106_G	cd05579	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05572	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06659	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06619	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05101	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06654	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07843	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd07838	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd07840	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112_G	cd06626	4557377,NP_000052
695	547759	Disease	p.Cys506Arg	VAR_006247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006247	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd08220	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd06608	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd06642	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd07870	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd06641	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd06640	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07865	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd07873	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05100	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd07872	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06638	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06634	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06607	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05055	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05098	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	105	cd05115	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05080	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd07830	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05035	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05589	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd07835	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05108	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd07829	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05074	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05075	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	394	smart00219	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	pfam00069	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	pfam07714	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	471	smart00221	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd06629	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05118	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05616	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05583	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd07857	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd07836	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05587	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd07841	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd07861	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd07842	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd08530	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd08219	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd06627	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd06606	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05122	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd08222	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd08218	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117_G	cd08529	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd07832	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153_G	cd07834	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05045	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd07839	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd08528	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd08217	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05578	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd07860	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd08225	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd08215	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd08223	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05107	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05105	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05104	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06647	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd06917	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05631	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05605	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd08216	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05632	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd06628	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05612	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06609	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05580	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167_G	cd05573	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	480	COG0515	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd06616	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd06615	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05574	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd06617	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06623	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd08229	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd08224	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05581	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd08228	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06605	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd06621	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd06622	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd07847	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06610	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd07846	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07837	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06658	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd07866	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07864	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd07844	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd07871	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05071	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05089	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd07849	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05061	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05056	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05052	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05067	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05082	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05070	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05073	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd05083	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05072	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05034	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05068	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05069	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05039	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05148	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd05032	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05036	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05062	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd06614	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd07831	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd07833	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	378	smart00220	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06618	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06635	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05057	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06645	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05111	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05054	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05103	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05102	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd06624	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd05053	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05109	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05033	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05066	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd06611	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd05114	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05059	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05043	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05113	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd05112	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd06643	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119_G	cd07852	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05110	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05088	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05038	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05081	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05079	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05065	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05106	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd06613	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06651	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116_G	cd06625	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06652	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06612	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06653	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06648	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05076	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05099	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd06644	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	105	cd05116	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05060	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd05086	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05042	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05087	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	105	cd05593	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05570	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05590	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05592	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05591	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129_G	cd06632	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05077	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05037	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	317	cd00192	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05078	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05058	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd06630	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05044	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05041	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05040	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	104	cd05085	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	104	cd05084	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05619	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05063	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd06620	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05051	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06646	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05049	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06656	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06655	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05091	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05050	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05090	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05064	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05048	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07845	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05097	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05095	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05046	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05094	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06637	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05093	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05096	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05092	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd05577	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114_G	cd06631	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	625	cd05123	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05047	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	340	cd00180	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd08221	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106_G	cd05579	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05572	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06659	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06619	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05101	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06654	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07843	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd07838	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd07840	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112_G	cd06626	4557377,NP_000052
695	547759	Disease	p.Cys506Tyr	VAR_006248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006248	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd08220	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd06608	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd06642	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd07870	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd06641	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd06640	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd07865	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd07873	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05100	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd07872	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06638	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06634	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06607	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05055	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05098	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd05115	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05080	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd07830	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05035	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05589	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd07835	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05108	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd07829	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05074	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05075	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	396	smart00219	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	pfam00069	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	pfam07714	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	473	smart00221	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06629	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05118	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05616	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05583	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd07857	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd07836	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05587	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd07841	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd07861	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd07842	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd08530	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd08219	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd06627	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd06606	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd05122	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd08222	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd08218	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd08529	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd07832	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd07834	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05045	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd07839	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd08528	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd08217	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05578	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd07860	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd08225	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd08215	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd08223	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05107	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05105	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05104	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06647	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06917	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05631	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05605	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd08216	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05632	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd06628	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05612	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06609	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05580	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05573	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	482	COG0515	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06616	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd06615	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05574	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06617	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd06623	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd08229	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd08224	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05581	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd08228	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd06605	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06621	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06622	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd07847	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd06610	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd07846	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd07837	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06658	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd07866	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd07864	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd07844	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd07871	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05071	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05089	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd07849	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05061	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05056	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05052	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05067	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05082	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05070	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05073	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05083	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05072	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05034	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05068	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05069	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05039	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05148	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05032	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05036	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05062	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd06614	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd07831	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07833	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	380	smart00220	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06618	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06635	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05057	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd06645	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05111	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05054	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05103	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05102	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06624	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd05053	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05109	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd05033	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05066	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd06611	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05114	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05059	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05043	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05113	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05112	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd06643	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd07852	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05110	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05088	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05038	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05081	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05079	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05065	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05106	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd06613	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd06651	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd06625	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06652	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06612	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd06653	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06648	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05076	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05099	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06644	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd05116	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05060	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05086	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05042	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05087	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd05593	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd05570	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05590	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05592	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05591	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06632	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05077	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05037	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	319	cd00192	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05078	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05058	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd06630	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05044	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05041	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05040	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05085	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	106	cd05084	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05619	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05063	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd06620	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05051	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd06646	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05049	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06656	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06655	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05091	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd05050	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05090	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05064	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05048	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd07845	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05097	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05095	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05046	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05094	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd06637	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05093	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05096	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05092	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05577	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06631	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	627	cd05123	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05047	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	342	cd00180	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd08221	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05579	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05572	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd06659	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06619	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05101	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06654	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd07843	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd07838	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd07840	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd06626	4557377,NP_000052
695	547759	Disease	p.Ala508Asp	VAR_008318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008318	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd08220	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd06608	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd06642	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd07870	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd06641	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd06640	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd07865	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd07873	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05100	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd07872	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06638	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06634	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06607	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05055	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05098	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05115	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05080	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd07830	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05035	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05589	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd07835	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05108	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd07829	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05074	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05075	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	397	smart00219	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	pfam00069	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	pfam07714	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	474	smart00221	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd06629	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05118	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05616	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05583	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd07857	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd07836	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05587	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd07841	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd07861	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd07842	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd08530	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd08219	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd06627	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd06606	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05122	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd08222	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd08218	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd08529	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07832	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd07834	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05045	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd07839	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd08528	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd08217	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05578	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd07860	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd08225	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd08215	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd08223	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05107	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05105	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05104	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06647	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd06917	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05631	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05605	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd08216	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05632	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06628	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05612	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd06609	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05580	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05573	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	496	COG0515	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06616	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd06615	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05574	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd06617	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd06623	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd08229	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd08224	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05581	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd08228	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06605	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd06621	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06622	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd07847	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06610	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd07846	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07837	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06658	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd07866	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07864	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd07844	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd07871	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05071	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05089	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd07849	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05061	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05056	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05052	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05067	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05082	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05070	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05073	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05083	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05072	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05034	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05068	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05069	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05039	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05148	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05032	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05036	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05062	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd06614	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd07831	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd07833	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	381	smart00220	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06618	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd06635	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd05057	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd06645	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05111	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd05054	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05103	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05102	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06624	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05053	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05109	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05033	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05066	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd06611	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05114	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05059	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd05043	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05113	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05112	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06643	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd07852	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05110	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05088	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05038	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05081	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05079	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05065	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd05106	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06613	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd06651	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd06625	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd06652	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06612	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd06653	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd06648	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05076	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05099	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd06644	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05116	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05060	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05086	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05042	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05087	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05593	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05570	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05590	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05592	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05591	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06632	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05077	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05037	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	320	cd00192	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05078	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05058	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06630	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05044	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05041	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05040	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd05085	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd05084	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05619	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05063	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd06620	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd05051	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd06646	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05049	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06656	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06655	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05091	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05050	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05090	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05064	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05048	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07845	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05097	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05095	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05046	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05094	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd06637	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05093	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05096	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05092	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05577	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd06631	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	628	cd05123	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05047	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	343	cd00180	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd08221	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05579	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05572	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06659	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd06619	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05101	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd06654	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07843	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd07838	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd07840	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd06626	4557377,NP_000052
695	547759	Disease	p.Met509Ile	VAR_008319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008319	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd08220	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd06608	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd06642	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd07870	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd06641	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd06640	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd07865	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd07873	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05100	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd07872	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06638	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06634	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06607	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05055	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05098	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05115	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05080	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd07830	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05035	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05589	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd07835	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05108	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd07829	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05074	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05075	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	397	smart00219	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	pfam00069	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	pfam07714	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	474	smart00221	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd06629	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05118	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05616	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05583	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd07857	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd07836	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05587	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd07841	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd07861	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd07842	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd08530	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd08219	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd06627	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd06606	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05122	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd08222	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd08218	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd08529	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07832	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd07834	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05045	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd07839	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd08528	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd08217	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05578	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd07860	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd08225	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd08215	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd08223	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05107	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05105	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05104	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06647	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd06917	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05631	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05605	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd08216	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05632	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06628	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05612	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd06609	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05580	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05573	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	496	COG0515	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06616	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd06615	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05574	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd06617	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd06623	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd08229	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd08224	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05581	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd08228	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06605	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd06621	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06622	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd07847	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06610	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd07846	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07837	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06658	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd07866	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07864	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd07844	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd07871	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05071	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05089	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd07849	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05061	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05056	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05052	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05067	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05082	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05070	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05073	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05083	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05072	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05034	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05068	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05069	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05039	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05148	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05032	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05036	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05062	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd06614	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd07831	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd07833	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	381	smart00220	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06618	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd06635	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd05057	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd06645	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05111	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd05054	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05103	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05102	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06624	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05053	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05109	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05033	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05066	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd06611	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05114	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05059	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd05043	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05113	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05112	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06643	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd07852	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05110	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05088	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05038	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05081	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05079	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05065	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd05106	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06613	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd06651	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd06625	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd06652	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06612	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd06653	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd06648	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05076	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05099	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd06644	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05116	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05060	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05086	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05042	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05087	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	108	cd05593	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05570	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05590	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05592	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05591	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06632	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05077	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05037	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	320	cd00192	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd05078	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05058	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd06630	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05044	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05041	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05040	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd05085	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	107	cd05084	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05619	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05063	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd06620	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd05051	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd06646	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05049	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06656	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06655	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05091	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05050	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05090	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05064	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05048	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07845	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05097	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05095	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05046	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05094	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd06637	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05093	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05096	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05092	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	113	cd05577	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd06631	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	628	cd05123	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05047	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	343	cd00180	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd08221	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	109	cd05579	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05572	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06659	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd06619	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05101	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd06654	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07843	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd07838	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd07840	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd06626	4557377,NP_000052
695	547759	Disease	p.Met509Val	VAR_006249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006249	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd08220	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd06608	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd06642	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd07870	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd06641	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd06640	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd07865	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd07873	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05100	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd07872	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06638	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06634	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06607	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05055	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05098	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05115	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05080	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd07830	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05035	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05589	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd07835	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05108	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd07829	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05074	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05075	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	400	smart00219	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	pfam00069	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	pfam07714	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	477	smart00221	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06629	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05118	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05616	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05583	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd07857	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd07836	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05587	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd07841	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd07861	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd07842	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd08530	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd08219	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd06627	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd06606	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05122	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd08222	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd08218	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd08529	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07832	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd07834	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05045	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd07839	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd08528	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd08217	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05578	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd07860	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd08225	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd08215	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd08223	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05107	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05105	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05104	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06647	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06917	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05631	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05605	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd08216	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05632	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd06628	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05612	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06609	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05580	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05573	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	516	COG0515	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06616	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd06615	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05574	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd06617	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd06623	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd08229	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd08224	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05581	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd08228	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06605	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06621	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06622	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd07847	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06610	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd07846	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07837	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd06658	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd07866	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07864	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd07844	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd07871	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05071	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05089	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd07849	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05061	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05056	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05052	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05067	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05082	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05070	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05073	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05083	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05072	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05034	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05068	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05069	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05039	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05148	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05032	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05036	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05062	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd06614	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd07831	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd07833	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	384	smart00220	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd06618	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06635	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05057	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06645	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05111	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05054	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05103	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05102	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd06624	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05053	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05109	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05033	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05066	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06611	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05114	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05059	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd05043	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05113	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05112	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd06643	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd07852	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05110	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05088	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05038	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05081	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05079	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05065	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05106	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd06613	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06651	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06625	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd06652	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06612	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06653	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06648	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05076	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05099	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06644	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05116	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05060	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05086	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05042	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05087	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05593	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05570	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05590	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05592	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05591	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06632	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05077	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05037	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	323	cd00192	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05078	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05058	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd06630	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05044	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05041	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05040	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd05085	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd05084	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05619	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05063	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06620	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05051	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06646	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05049	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06656	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06655	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05091	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05050	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05090	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05064	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05048	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd07845	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05097	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05095	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05046	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05094	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06637	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05093	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05096	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05092	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05577	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd06631	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	631	cd05123	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05047	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	346	cd00180	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd08221	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05579	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05572	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06659	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06619	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05101	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06654	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07843	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd07838	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd07840	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd06626	4557377,NP_000052
695	547759	Disease	p.Leu512Pro	VAR_008961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008961	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd08220	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd06608	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd06642	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd07870	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd06641	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd06640	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd07865	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd07873	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05100	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd07872	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06638	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06634	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06607	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05055	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05098	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05115	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05080	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd07830	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05035	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05589	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd07835	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05108	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd07829	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05074	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05075	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	400	smart00219	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	pfam00069	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	pfam07714	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	477	smart00221	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06629	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05118	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05616	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05583	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd07857	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd07836	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05587	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd07841	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd07861	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd07842	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd08530	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd08219	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd06627	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd06606	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05122	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd08222	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd08218	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd08529	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07832	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd07834	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05045	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	115	cd07839	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd08528	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd08217	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05578	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd07860	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd08225	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd08215	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd08223	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05107	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05105	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05104	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06647	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06917	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05631	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05605	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd08216	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05632	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd06628	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05612	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06609	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05580	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05573	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	516	COG0515	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06616	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd06615	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05574	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd06617	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd06623	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd08229	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd08224	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05581	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd08228	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06605	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06621	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06622	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd07847	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06610	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd07846	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07837	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd06658	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd07866	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07864	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd07844	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd07871	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05071	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05089	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd07849	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05061	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05056	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05052	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05067	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05082	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05070	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05073	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05083	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05072	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05034	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05068	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05069	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05039	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05148	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05032	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05036	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05062	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd06614	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd07831	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd07833	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	384	smart00220	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd06618	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06635	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05057	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06645	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05111	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05054	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05103	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05102	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd06624	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05053	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05109	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05033	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05066	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06611	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05114	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05059	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd05043	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05113	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05112	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd06643	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd07852	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05110	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05088	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05038	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05081	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05079	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05065	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05106	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd06613	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06651	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06625	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd06652	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06612	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06653	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06648	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05076	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05099	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06644	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05116	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05060	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05086	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05042	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05087	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	111	cd05593	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	114	cd05570	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05590	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05592	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05591	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06632	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05077	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05037	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	323	cd00192	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05078	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05058	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd06630	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05044	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05041	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05040	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd05085	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	110	cd05084	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05619	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05063	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd06620	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05051	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd06646	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05049	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06656	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06655	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05091	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05050	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05090	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05064	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05048	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd07845	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05097	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05095	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05046	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05094	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06637	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05093	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05096	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05092	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05577	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd06631	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	631	cd05123	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05047	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	346	cd00180	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd08221	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	112	cd05579	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05572	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06659	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06619	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05101	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06654	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07843	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd07838	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd07840	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd06626	4557377,NP_000052
695	547759	Disease	p.Leu512Gln	VAR_008962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008962	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd08220	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd06608	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd06642	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd07870	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd06641	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd06640	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd07865	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd07873	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05100	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd07872	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd06638	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06634	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06607	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05055	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd05098	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05115	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05080	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd07830	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd05035	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05589	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd07835	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05108	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd07829	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05074	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05075	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	419	smart00219	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	pfam00069	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	278	pfam07714	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	534	smart00221	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06629	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05118	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05616	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05583	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07857	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd07836	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05587	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd07841	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd07861	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd07842	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd08530	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd08219	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd06627	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd06606	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05122	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd08222	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd08218	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd08529	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd07832	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd07834	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05045	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd07839	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd08528	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd08217	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05578	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd07860	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd08225	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd08215	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd08223	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05107	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05105	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05104	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06647	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06917	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05631	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05605	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd08216	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05632	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06628	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05612	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06609	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05580	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05573	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	554	COG0515	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06616	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd06615	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd05574	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06617	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd06623	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd08229	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd08224	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05581	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd08228	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06605	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06621	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06622	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07847	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd06610	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd07846	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd07837	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06658	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd07866	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd07864	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd07844	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd07871	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05071	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05089	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd07849	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05061	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd05056	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05052	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05067	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05082	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05070	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05073	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05083	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05072	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05034	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05068	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05069	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05039	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05148	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05032	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05036	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05062	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd06614	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd07831	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd07833	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	424	smart00220	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06618	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd06635	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05057	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06645	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05111	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05054	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05103	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05102	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06624	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05053	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05109	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd05033	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05066	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06611	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05114	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05059	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd05043	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05113	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05112	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06643	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07852	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05110	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05088	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05038	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05081	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05079	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05065	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05106	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06613	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06651	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06625	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd06652	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06612	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06653	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd06648	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05076	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05099	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06644	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05116	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05060	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05086	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05042	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05087	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	117	cd05593	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05570	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05590	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05592	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05591	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06632	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05077	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05037	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	331	cd00192	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05078	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05058	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06630	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05044	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05041	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05040	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05085	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	116	cd05084	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05619	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05063	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06620	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05051	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06646	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05049	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06656	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06655	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05091	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd05050	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05090	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05064	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05048	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd07845	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05097	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05095	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05046	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd05094	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06637	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05093	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd05096	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05092	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05577	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06631	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	638	cd05123	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05047	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	363	cd00180	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd08221	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05579	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05572	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06659	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd06619	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05101	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd06654	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd07843	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd07838	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd07840	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd06626	4557377,NP_000052
695	547759	Disease	p.Leu518Arg	VAR_008320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008320	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd08220	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd06608	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06642	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd07870	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06641	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd06640	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd07865	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07873	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd05100	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07872	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd06638	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06634	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06607	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05055	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd05098	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05115	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05080	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd07830	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05035	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05589	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd07835	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05108	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd07829	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05074	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05075	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	421	smart00219	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	pfam00069	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	pfam07714	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	536	smart00221	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd06629	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05118	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05616	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05583	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd07857	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd07836	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05587	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd07841	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd07861	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd07842	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd08530	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd08219	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06627	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd06606	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd05122	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08222	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd08218	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd08529	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd07832	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd07834	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05045	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd07839	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd08528	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd08217	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05578	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd07860	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd08225	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd08215	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd08223	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05107	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05105	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05104	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06647	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd06917	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05631	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05605	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd08216	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05632	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06628	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05612	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd06609	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd05580	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05573	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	556	COG0515	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06616	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06615	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05574	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd06617	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd06623	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd08229	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08224	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05581	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd08228	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06605	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd06621	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06622	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd07847	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd06610	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd07846	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd07837	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06658	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd07866	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd07864	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07844	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd07871	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05071	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05089	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07849	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05061	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd05056	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05052	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05067	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05082	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05070	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05073	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05083	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05072	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05034	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05068	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05069	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05039	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05148	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05032	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05036	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05062	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd06614	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd07831	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd07833	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	426	smart00220	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd06618	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06635	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05057	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06645	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05111	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05054	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05103	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05102	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06624	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd05053	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05109	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd05033	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05066	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd06611	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05114	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05059	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05043	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05113	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05112	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06643	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd07852	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05110	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05088	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05038	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05081	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05079	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05065	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05106	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06613	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06651	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06625	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06652	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06612	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06653	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06648	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05076	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd05099	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd06644	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05116	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05060	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05086	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05042	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05087	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05593	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05570	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05590	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05592	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05591	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd06632	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05077	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05037	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	333	cd00192	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05078	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05058	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06630	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05044	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05041	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05040	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05085	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	118	cd05084	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05619	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05063	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06620	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05051	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06646	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05049	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06656	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06655	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05091	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05050	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05090	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05064	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05048	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd07845	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd05097	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05095	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05046	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05094	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06637	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05093	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05096	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05092	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05577	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06631	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	640	cd05123	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05047	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	365	cd00180	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd08221	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05579	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05572	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06659	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06619	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05101	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06654	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd07843	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd07838	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd07840	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06626	4557377,NP_000052
695	547759	Disease	p.Arg520Gln	VAR_006251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006251	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd08220	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd06608	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06642	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07870	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06641	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06640	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd07865	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd07873	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05100	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd07872	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06638	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06634	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06607	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05055	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05098	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05115	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05080	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd07830	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05035	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05589	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd07835	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05108	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd07829	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05074	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05075	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	422	smart00219	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	pfam00069	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	pfam07714	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	537	smart00221	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06629	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05118	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05616	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05583	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07857	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07836	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05587	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd07841	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd07861	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd07842	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08530	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd08219	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06627	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06606	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05122	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd08222	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd08218	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08529	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd07832	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd07834	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05045	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd07839	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd08528	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd08217	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05578	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd07860	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd08225	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd08215	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd08223	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05107	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05105	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05104	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06647	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06917	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05631	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05605	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd08216	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05632	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06628	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05612	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd06609	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05580	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05573	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	557	COG0515	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06616	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06615	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05574	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06617	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd06623	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08229	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd08224	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd05581	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08228	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd06605	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06621	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06622	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07847	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06610	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd07846	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd07837	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd06658	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd07866	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd07864	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd07844	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07871	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05071	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05089	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd07849	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd05061	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05056	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05052	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05067	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05082	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05070	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05073	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05083	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05072	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05034	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05068	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05069	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05039	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05148	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05032	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05036	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05062	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd06614	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd07831	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd07833	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	427	smart00220	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06618	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd06635	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05057	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06645	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05111	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05054	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05103	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05102	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd06624	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05053	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05109	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05033	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05066	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06611	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05114	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05059	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05043	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05113	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05112	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06643	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07852	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05110	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05088	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05038	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05081	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05079	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05065	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05106	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06613	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06651	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06625	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd06652	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06612	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06653	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06648	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05076	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05099	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06644	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05116	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05060	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05086	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05042	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05087	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05593	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05570	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05590	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05592	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05591	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06632	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05077	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05037	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	334	cd00192	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05078	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05058	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06630	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05044	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05041	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05040	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05085	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05084	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05619	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05063	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06620	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05051	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06646	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05049	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06656	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06655	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05091	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd05050	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05090	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05064	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05048	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd07845	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05097	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05095	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05046	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05094	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd06637	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd05093	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05096	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05092	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05577	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd06631	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	641	cd05123	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05047	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	366	cd00180	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd08221	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05579	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05572	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06659	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06619	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd05101	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06654	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd07843	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd07838	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd07840	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06626	4557377,NP_000052
695	547759	Disease	p.Asp521Gly	VAR_008321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008321	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd08220	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd06608	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06642	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07870	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06641	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06640	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd07865	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd07873	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05100	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd07872	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06638	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06634	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06607	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05055	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05098	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05115	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05080	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd07830	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05035	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05589	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd07835	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05108	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd07829	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05074	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05075	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	422	smart00219	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	pfam00069	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	pfam07714	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	537	smart00221	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06629	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05118	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05616	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05583	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07857	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07836	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05587	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd07841	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd07861	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd07842	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08530	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd08219	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06627	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06606	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05122	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd08222	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd08218	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08529	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd07832	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd07834	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05045	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd07839	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd08528	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd08217	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05578	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd07860	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd08225	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd08215	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd08223	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05107	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05105	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05104	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06647	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06917	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05631	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05605	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd08216	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05632	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06628	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05612	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd06609	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05580	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05573	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	557	COG0515	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06616	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06615	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05574	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06617	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd06623	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08229	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd08224	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd05581	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08228	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd06605	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06621	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06622	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07847	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06610	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd07846	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd07837	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd06658	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd07866	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd07864	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd07844	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07871	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05071	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05089	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd07849	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd05061	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05056	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05052	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05067	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05082	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05070	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05073	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05083	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05072	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05034	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05068	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05069	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05039	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05148	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05032	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05036	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05062	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd06614	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd07831	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd07833	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	427	smart00220	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06618	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd06635	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05057	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06645	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05111	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05054	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05103	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05102	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd06624	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05053	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05109	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05033	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05066	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06611	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05114	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05059	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05043	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05113	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05112	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06643	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07852	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05110	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05088	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05038	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05081	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05079	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05065	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05106	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06613	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06651	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06625	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd06652	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06612	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06653	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06648	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05076	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05099	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06644	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05116	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05060	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05086	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05042	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05087	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05593	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05570	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05590	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05592	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05591	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06632	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05077	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05037	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	334	cd00192	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05078	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05058	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06630	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05044	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05041	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05040	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05085	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05084	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05619	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05063	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06620	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05051	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06646	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05049	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06656	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06655	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05091	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd05050	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05090	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05064	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05048	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd07845	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05097	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05095	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05046	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05094	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd06637	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd05093	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05096	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05092	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05577	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd06631	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	641	cd05123	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05047	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	366	cd00180	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd08221	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05579	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05572	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06659	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06619	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd05101	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06654	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd07843	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd07838	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd07840	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06626	4557377,NP_000052
695	547759	Disease	p.Asp521His	VAR_006252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006252	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd08220	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd06608	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06642	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07870	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06641	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd06640	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd07865	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd07873	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05100	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd07872	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06638	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06634	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06607	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05055	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05098	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05115	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05080	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd07830	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05035	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05589	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd07835	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05108	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd07829	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05074	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05075	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	422	smart00219	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	pfam00069	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	pfam07714	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	537	smart00221	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06629	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05118	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05616	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05583	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07857	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07836	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05587	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd07841	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd07861	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd07842	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08530	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd08219	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06627	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06606	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05122	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd08222	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd08218	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08529	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd07832	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd07834	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05045	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd07839	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd08528	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd08217	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05578	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd07860	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd08225	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd08215	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd08223	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05107	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05105	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05104	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06647	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06917	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05631	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05605	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd08216	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05632	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06628	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05612	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd06609	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05580	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05573	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	557	COG0515	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06616	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06615	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05574	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06617	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd06623	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08229	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd08224	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd05581	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08228	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd06605	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06621	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06622	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07847	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06610	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd07846	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd07837	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd06658	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd07866	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd07864	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd07844	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07871	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05071	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05089	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd07849	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd05061	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05056	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05052	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05067	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05082	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05070	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05073	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05083	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05072	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05034	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05068	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05069	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05039	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05148	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05032	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05036	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05062	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd06614	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd07831	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd07833	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	427	smart00220	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06618	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd06635	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05057	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06645	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05111	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05054	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05103	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05102	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd06624	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05053	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05109	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05033	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05066	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06611	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05114	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05059	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05043	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05113	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05112	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06643	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07852	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05110	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05088	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05038	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05081	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05079	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05065	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05106	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06613	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06651	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06625	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd06652	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06612	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06653	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06648	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05076	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05099	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06644	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05116	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05060	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05086	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05042	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05087	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	120	cd05593	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05570	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05590	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05592	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05591	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06632	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05077	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05037	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	334	cd00192	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05078	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05058	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06630	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05044	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05041	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05040	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05085	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	119	cd05084	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05619	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05063	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06620	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05051	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06646	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05049	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06656	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06655	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05091	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd05050	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05090	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05064	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05048	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd07845	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05097	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05095	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05046	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05094	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd06637	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd05093	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05096	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05092	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05577	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd06631	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	641	cd05123	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05047	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	366	cd00180	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd08221	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05579	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05572	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06659	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06619	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd05101	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06654	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd07843	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd07838	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd07840	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd06626	4557377,NP_000052
695	547759	Disease	p.Asp521Asn	VAR_006253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006253	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd08220	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd06608	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06642	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd07870	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06641	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd06640	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd07865	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07873	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05100	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07872	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd06638	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06634	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06607	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05055	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05098	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05115	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05080	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd07830	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05035	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05589	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd07835	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05108	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd07829	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05074	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05075	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	424	smart00219	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	pfam00069	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	pfam07714	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	539	smart00221	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06629	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05118	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05616	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05583	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd07857	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd07836	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05587	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd07841	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd07861	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd07842	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd08530	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd08219	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd06627	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06606	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05122	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd08222	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd08218	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd08529	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd07832	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd07834	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05045	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd07839	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd08528	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd08217	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05578	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd07860	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd08225	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd08215	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd08223	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05107	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05105	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05104	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06647	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06917	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05631	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05605	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd08216	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05632	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06628	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05612	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd06609	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05580	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05573	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	559	COG0515	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06616	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd06615	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05574	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06617	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd06623	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd08229	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd08224	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd05581	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd08228	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06605	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06621	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06622	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd07847	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06610	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07846	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd07837	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06658	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd07866	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd07864	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07844	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd07871	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05071	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05089	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd07849	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05061	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05056	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05052	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05067	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05082	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05070	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05073	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05083	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05072	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05034	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05068	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05069	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05039	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05148	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05032	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd05036	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05062	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd06614	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07831	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd07833	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	429	smart00220	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd06618	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd06635	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05057	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06645	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05111	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05054	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05103	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05102	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06624	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05053	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05109	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05033	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05066	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06611	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05114	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05059	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05043	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05113	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05112	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06643	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd07852	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05110	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05088	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd05038	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05081	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05079	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05065	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05106	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06613	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06651	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06625	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd06652	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06612	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06653	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd06648	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05076	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05099	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06644	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05116	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05060	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05086	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05042	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05087	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	122	cd05593	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05570	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05590	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05592	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05591	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd06632	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05077	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05037	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	336	cd00192	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05078	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05058	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06630	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05044	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05041	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05040	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05085	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	121	cd05084	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05619	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05063	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06620	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05051	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06646	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05049	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06656	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06655	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05091	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd05050	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05090	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05064	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05048	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd07845	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd05097	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05095	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05046	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05094	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd06637	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05093	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05096	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05092	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05577	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06631	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	643	cd05123	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05047	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	368	cd00180	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd08221	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05579	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05572	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06659	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd06619	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd05101	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd06654	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd07843	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd07838	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd07840	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd06626	4557377,NP_000052
695	547759	Disease	p.Ala523Glu	VAR_008322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008322	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd08220	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd06608	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06642	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd07870	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06641	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06640	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd07865	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd07873	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05100	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd07872	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd06638	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06634	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06607	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05055	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05098	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05115	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05080	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd07830	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05035	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05589	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd07835	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05108	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd07829	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05074	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05075	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	426	smart00219	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	pfam00069	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	pfam07714	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	541	smart00221	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06629	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05118	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05616	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05583	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd07857	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd07836	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05587	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd07841	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07861	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd07842	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd08530	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd08219	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd06627	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06606	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05122	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd08222	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd08218	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd08529	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd07832	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd07834	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05045	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07839	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd08528	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd08217	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05578	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd07860	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd08225	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd08215	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08223	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05107	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05105	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05104	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06647	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06917	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05631	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05605	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd08216	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05632	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06628	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05612	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd06609	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05580	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05573	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	586	COG0515	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06616	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06615	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05574	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd06617	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd06623	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd08229	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd08224	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05581	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd08228	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd06605	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06621	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06622	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd07847	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06610	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd07846	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd07837	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd06658	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd07866	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd07864	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd07844	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd07871	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05071	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05089	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd07849	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05061	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05056	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05052	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05067	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05082	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05070	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05073	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05083	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05072	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05034	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05068	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05069	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05039	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05148	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05032	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05036	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05062	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd06614	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd07831	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd07833	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	431	smart00220	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd06618	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06635	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05057	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06645	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05111	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05054	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd05103	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05102	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06624	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05053	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05109	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05033	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05066	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd06611	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05114	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05059	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05043	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05113	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05112	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06643	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd07852	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05110	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05088	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05038	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05081	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05079	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05065	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05106	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06613	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06651	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06625	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd06652	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06612	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06653	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06648	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05076	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05099	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06644	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05116	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05060	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05086	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05042	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05087	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05593	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05570	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05590	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05592	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05591	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd06632	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05077	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05037	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	338	cd00192	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05078	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05058	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06630	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05044	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05041	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05040	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05085	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05084	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05619	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05063	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06620	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05051	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06646	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05049	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06656	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06655	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05091	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd05050	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05090	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05064	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05048	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd07845	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd05097	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05095	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05046	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05094	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06637	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05093	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05096	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05092	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05577	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06631	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	645	cd05123	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05047	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	370	cd00180	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08221	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05579	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05572	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd06659	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06619	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05101	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06654	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd07843	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd07838	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd07840	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06626	4557377,NP_000052
695	547759	Disease	p.Arg525Gly	VAR_008323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008323	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd08220	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd06608	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06642	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd07870	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06641	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06640	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd07865	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd07873	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05100	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd07872	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd06638	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06634	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06607	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05055	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05098	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05115	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05080	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd07830	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05035	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05589	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd07835	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05108	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd07829	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05074	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05075	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	426	smart00219	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	pfam00069	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	pfam07714	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	541	smart00221	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06629	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05118	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05616	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05583	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd07857	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd07836	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05587	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd07841	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07861	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd07842	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd08530	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd08219	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd06627	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06606	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05122	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd08222	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd08218	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd08529	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd07832	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd07834	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05045	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07839	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd08528	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd08217	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05578	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd07860	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd08225	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd08215	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08223	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05107	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05105	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05104	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06647	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06917	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05631	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05605	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd08216	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05632	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06628	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05612	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd06609	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05580	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05573	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	586	COG0515	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06616	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06615	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05574	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd06617	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd06623	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd08229	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd08224	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05581	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd08228	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd06605	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06621	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06622	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd07847	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06610	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd07846	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd07837	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd06658	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd07866	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd07864	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd07844	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd07871	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05071	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05089	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd07849	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05061	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05056	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05052	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05067	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05082	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05070	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05073	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05083	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05072	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05034	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05068	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05069	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05039	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05148	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05032	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05036	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05062	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd06614	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd07831	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd07833	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	431	smart00220	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd06618	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06635	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05057	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06645	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05111	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05054	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd05103	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05102	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06624	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05053	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05109	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05033	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05066	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd06611	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05114	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05059	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05043	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05113	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05112	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06643	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd07852	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05110	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05088	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05038	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05081	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05079	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05065	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05106	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06613	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06651	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06625	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd06652	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06612	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06653	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06648	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05076	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05099	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06644	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05116	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05060	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05086	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05042	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05087	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05593	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05570	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05590	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05592	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05591	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd06632	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05077	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05037	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	338	cd00192	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05078	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05058	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06630	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05044	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05041	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05040	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05085	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05084	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05619	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05063	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06620	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05051	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06646	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05049	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06656	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06655	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05091	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd05050	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05090	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05064	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05048	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd07845	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd05097	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05095	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05046	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05094	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06637	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05093	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05096	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05092	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05577	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06631	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	645	cd05123	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05047	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	370	cd00180	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08221	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05579	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05572	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd06659	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06619	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05101	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06654	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd07843	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd07838	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd07840	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06626	4557377,NP_000052
695	547759	Disease	p.Arg525Pro	VAR_006254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006254	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd08220	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd06608	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06642	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd07870	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06641	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd06640	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd07865	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd07873	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05100	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd07872	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd06638	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06634	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06607	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05055	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05098	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05115	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05080	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd07830	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05035	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05589	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd07835	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05108	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd07829	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05074	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05075	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	426	smart00219	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	pfam00069	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	pfam07714	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	541	smart00221	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06629	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05118	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05616	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05583	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd07857	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd07836	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05587	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd07841	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07861	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd07842	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd08530	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd08219	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd06627	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06606	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05122	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd08222	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd08218	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd08529	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd07832	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd07834	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05045	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd07839	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd08528	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd08217	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05578	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd07860	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd08225	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd08215	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08223	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05107	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05105	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05104	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06647	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06917	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05631	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05605	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd08216	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05632	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06628	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05612	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd06609	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05580	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05573	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	586	COG0515	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06616	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06615	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05574	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd06617	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd06623	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd08229	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd08224	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05581	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd08228	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd06605	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06621	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06622	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd07847	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06610	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd07846	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd07837	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd06658	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd07866	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd07864	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd07844	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd07871	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05071	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05089	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd07849	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05061	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05056	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05052	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05067	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05082	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05070	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05073	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05083	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05072	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05034	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05068	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05069	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05039	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05148	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05032	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05036	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05062	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd06614	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd07831	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd07833	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	431	smart00220	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd06618	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06635	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05057	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06645	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05111	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05054	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd05103	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05102	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06624	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05053	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05109	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05033	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05066	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd06611	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05114	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05059	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05043	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05113	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05112	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06643	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd07852	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05110	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05088	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05038	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05081	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05079	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05065	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05106	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06613	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06651	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06625	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd06652	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06612	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06653	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06648	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05076	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05099	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd06644	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05116	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05060	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05086	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05042	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05087	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05593	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	127	cd05570	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05590	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05592	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05591	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd06632	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05077	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05037	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	338	cd00192	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05078	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05058	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06630	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05044	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05041	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05040	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05085	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	123	cd05084	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05619	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05063	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06620	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05051	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06646	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05049	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06656	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06655	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05091	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd05050	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05090	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05064	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05048	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd07845	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd05097	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05095	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05046	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05094	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06637	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05093	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05096	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05092	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd05577	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06631	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	645	cd05123	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05047	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	370	cd00180	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08221	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05579	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05572	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd06659	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06619	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05101	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06654	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd07843	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd07838	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd07840	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06626	4557377,NP_000052
695	547759	Disease	p.Arg525Gln	VAR_006255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006255	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd08220	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd06608	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06642	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd07870	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06641	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd06640	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd07865	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07873	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd05100	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07872	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06638	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06634	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06607	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05055	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05098	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05115	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05080	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd07830	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05035	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05589	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd07835	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05108	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd07829	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05074	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05075	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	427	smart00219	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	pfam00069	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	pfam07714	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	542	smart00221	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06629	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05118	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05616	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05583	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd07857	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd07836	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05587	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd07841	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd07861	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd07842	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd08530	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd08219	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd06627	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd06606	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd05122	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd08222	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08218	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd08529	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd07832	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd07834	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05045	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	129	cd07839	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd08528	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd08217	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05578	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd07860	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd08225	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd08215	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd08223	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05107	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05105	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05104	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06647	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06917	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05631	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05605	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd08216	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05632	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd06628	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05612	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd06609	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05580	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05573	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	587	COG0515	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06616	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06615	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05574	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06617	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd06623	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd08229	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd08224	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05581	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd08228	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd06605	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06621	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06622	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd07847	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06610	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07846	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd07837	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd06658	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd07866	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd07864	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd07844	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd07871	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05071	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05089	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd07849	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05061	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05056	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05052	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05067	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05082	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05070	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05073	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05083	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05072	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05034	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05068	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05069	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05039	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05148	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05032	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05036	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05062	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd06614	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd07831	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd07833	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	432	smart00220	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06618	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd06635	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05057	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd06645	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05111	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05054	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05103	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05102	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd06624	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05053	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05109	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05033	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05066	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd06611	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05114	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05059	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05043	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	131	cd05113	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05112	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06643	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd07852	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05110	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05088	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd05038	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05081	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05079	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd05065	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05106	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06613	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd06651	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd06625	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd06652	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06612	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd06653	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd06648	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05076	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd05099	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06644	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05116	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05060	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05086	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05042	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05087	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	125	cd05593	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	128	cd05570	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05590	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05592	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05591	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06632	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05077	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05037	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	339	cd00192	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd05078	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05058	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd06630	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05044	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05041	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05040	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05085	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	124	cd05084	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05619	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd05063	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd06620	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05051	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	136	cd06646	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05049	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06656	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06655	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05091	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05050	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05090	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05064	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05048	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd07845	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05097	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05095	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05046	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05094	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06637	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05093	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05096	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05092	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	130	cd05577	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd06631	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	646	cd05123	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05047	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	371	cd00180	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd08221	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	126	cd05579	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05572	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd06659	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd06619	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05101	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd06654	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd07843	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd07838	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd07840	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	132	cd06626	4557377,NP_000052
695	547759	Disease	p.Asn526Lys	VAR_006256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006256	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd08220	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd06608	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06642	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd07870	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06641	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd06640	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd07865	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd07873	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05100	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd07872	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd06638	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06634	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06607	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	278	cd05055	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05098	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05115	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05080	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd07830	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd05035	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05589	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd07835	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05108	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd07829	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05074	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05075	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	452	smart00219	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	pfam00069	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	314	pfam07714	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	600	smart00221	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06629	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05118	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05616	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05583	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd07857	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd07836	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd05587	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd07841	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd07861	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd07842	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd08530	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd08219	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06627	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd06606	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd05122	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd08222	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd08218	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd08529	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd07832	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd07834	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05045	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	138	cd07839	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd08528	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd08217	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05578	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd07860	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd08225	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd08215	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd08223	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd05107	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd05105	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05104	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06647	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd06917	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05631	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05605	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd08216	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05632	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd06628	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05612	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd06609	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05580	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05573	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	659	COG0515	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06616	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd06615	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd05574	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06617	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd06623	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd08229	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd08224	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05581	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd08228	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd06605	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06621	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd06622	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd07847	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd06610	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd07846	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd07837	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd06658	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd07866	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd07864	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd07844	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd07871	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05071	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd05089	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd07849	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05061	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05056	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05052	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05067	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05082	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05070	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05073	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05083	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05072	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05034	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05068	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05069	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd05039	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05148	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05032	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd05036	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd05062	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd06614	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd07831	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd07833	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	507	smart00220	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd06618	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd06635	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05057	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06645	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05111	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05054	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05103	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05102	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd06624	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05053	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05109	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05033	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd05066	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd06611	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05114	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05059	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05043	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05113	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05112	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06643	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd07852	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05110	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05088	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05038	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05081	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05079	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd05065	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05106	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06613	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06651	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06625	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd06652	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06612	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06653	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd06648	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05076	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05099	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06644	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05116	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05060	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05086	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05042	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05087	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	134	cd05593	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	137	cd05570	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05590	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05592	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05591	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd06632	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05077	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05037	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	359	cd00192	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05078	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05058	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd06630	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05044	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05041	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05040	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05085	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	133	cd05084	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05619	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05063	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06620	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05051	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd06646	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05049	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06656	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06655	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05091	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05050	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05090	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05064	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05048	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd07845	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05097	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05095	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05046	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd05094	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd06637	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05093	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05096	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05092	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	139	cd05577	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd06631	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	655	cd05123	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05047	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	439	cd00180	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd08221	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	135	cd05579	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05572	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd06659	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd06619	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05101	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd06654	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd07843	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd07838	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd07840	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd06626	4557377,NP_000052
695	547759	Disease	p.Val535Phe	VAR_008324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008324	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd08220	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd06608	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd06642	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd07870	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd06641	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd06640	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd07865	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd07873	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05100	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd07872	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd06638	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd06634	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd06607	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd05055	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05098	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05115	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05080	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd07830	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05035	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05589	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd07835	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd05108	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd07829	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05074	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05075	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	459	smart00219	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	pfam00069	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	321	pfam07714	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	624	smart00221	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd06629	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd05118	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05616	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05583	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd07857	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd07836	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05587	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd07841	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd07861	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd07842	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd08530	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd08219	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd06627	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd06606	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05122	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd08222	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd08218	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd08529	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd07832	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd07834	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05045	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	145	cd07839	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd08528	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd08217	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05578	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd07860	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd08225	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd08215	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd08223	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd05107	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd05105	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05104	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd06647	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd06917	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05631	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05605	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd08216	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05632	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06628	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05612	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd06609	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05580	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05573	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	666	COG0515	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd06616	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd06615	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05574	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd06617	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06623	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd08229	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd08224	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05581	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd08228	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd06605	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd06621	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd06622	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd07847	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd06610	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd07846	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd07837	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd06658	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd07866	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd07864	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd07844	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd07871	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05071	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05089	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd07849	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05061	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05056	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05052	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05067	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05082	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05070	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05073	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05083	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05072	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05034	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05068	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05069	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05039	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05148	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05032	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05036	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05062	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06614	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd07831	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd07833	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	531	smart00220	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd06618	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd06635	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05057	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd06645	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd05111	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd05054	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05103	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05102	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd06624	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05053	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd05109	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05033	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05066	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd06611	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05114	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05059	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05043	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd05113	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05112	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06643	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd07852	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd05110	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05088	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd05038	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05081	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd05079	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05065	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05106	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06613	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd06651	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd06625	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd06652	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd06612	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd06653	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd06648	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05076	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05099	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd06644	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05116	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05060	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05086	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05042	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05087	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	141	cd05593	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05570	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05590	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05592	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05591	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd06632	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd05077	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05037	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	366	cd00192	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05078	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05058	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd06630	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05044	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05041	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05040	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05085	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	140	cd05084	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05619	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05063	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd06620	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05051	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd06646	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd05049	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd06656	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd06655	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05091	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05050	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05090	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05064	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05048	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd07845	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05097	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05095	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05046	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05094	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd06637	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05093	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05096	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05092	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05577	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd06631	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	662	cd05123	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd05047	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	446	cd00180	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd08221	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05579	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05572	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd06659	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd06619	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05101	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd06654	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd07843	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd07838	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd07840	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06626	4557377,NP_000052
695	547759	Disease	p.Leu542Pro	VAR_006257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006257	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd08220	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd06608	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06642	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd07870	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06641	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06640	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd07865	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd07873	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05100	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd07872	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd06638	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd06634	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162_G	cd06607	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd05055	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05098	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05115	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd05080	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd07830	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05035	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05589	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd07835	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05108	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd07829	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05074	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05075	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	461	smart00219	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	pfam00069	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	323	pfam07714	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	626	smart00221	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd06629	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05118	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05616	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05583	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd07857	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd07836	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05587	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd07841	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd07861	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd07842	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd08530	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd08219	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd06627	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06606	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05122	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd08222	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd08218	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd08529	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd07832	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd07834	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05045	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd07839	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd08528	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd08217	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05578	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd07860	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd08225	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd08215	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd08223	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	290	cd05107	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd05105	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05104	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd06647	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd06917	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05631	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05605	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd08216	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149_G	cd05632	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd06628	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05612	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd06609	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05580	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05573	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	668	COG0515	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd06616	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd06615	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05574	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd06617	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd06623	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd08229	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd08224	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05581	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd08228	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd06605	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157_G	cd06621	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd06622	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd07847	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd06610	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd07846	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd07837	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd06658	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd07866	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd07864	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd07844	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd07871	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05071	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05089	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd07849	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05061	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05056	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05052	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05067	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05082	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05070	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05073	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05083	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05072	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd05034	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05068	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05069	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05039	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05148	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05032	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05036	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05062	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd06614	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd07831	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd07833	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	534	smart00220	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd06618	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd06635	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05057	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06645	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05111	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05054	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05103	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05102	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd06624	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05053	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05109	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05033	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05066	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06611	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05114	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05059	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05043	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05113	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05112	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd06643	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd07852	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05110	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05088	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05038	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05081	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05079	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05065	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05106	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd06613	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06651	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06625	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd06652	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd06612	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06653	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd06648	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05076	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05099	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd06644	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05116	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05060	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05086	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05042	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05087	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05593	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05570	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05590	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05592	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05591	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd06632	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd05077	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05037	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	368	cd00192	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd05078	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05058	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd06630	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05044	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05041	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05040	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05085	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05084	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05619	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05063	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153_G	cd06620	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05051	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06646	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05049	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd06656	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd06655	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05091	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05050	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05090	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05064	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05048	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd07845	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05097	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05095	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05046	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05094	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd06637	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05093	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05096	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05092	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05577	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd06631	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	664	cd05123	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd05047	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	448	cd00180	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd08221	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05579	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05572	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd06659	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd06619	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05101	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd06654	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd07843	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd07838	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd07840	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd06626	4557377,NP_000052
695	547759	Disease	p.Arg544Gly	VAR_008963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008963	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd08220	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd06608	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06642	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd07870	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06641	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd06640	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd07865	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd07873	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05100	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd07872	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd06638	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd06634	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162_G	cd06607	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd05055	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05098	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05115	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd05080	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd07830	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05035	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05589	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd07835	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05108	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd07829	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05074	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05075	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	461	smart00219	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	pfam00069	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	323	pfam07714	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	626	smart00221	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd06629	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05118	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05616	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05583	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd07857	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd07836	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05587	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd07841	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd07861	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd07842	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd08530	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd08219	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd06627	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06606	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05122	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd08222	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd08218	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd08529	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd07832	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd07834	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05045	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	147	cd07839	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd08528	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd08217	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05578	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd07860	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd08225	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd08215	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd08223	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	290	cd05107	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd05105	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05104	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd06647	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd06917	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05631	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05605	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd08216	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149_G	cd05632	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd06628	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05612	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd06609	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05580	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05573	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	668	COG0515	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd06616	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd06615	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05574	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd06617	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd06623	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd08229	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd08224	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05581	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd08228	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd06605	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157_G	cd06621	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd06622	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd07847	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd06610	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd07846	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd07837	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd06658	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd07866	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd07864	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd07844	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd07871	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05071	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05089	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd07849	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05061	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05056	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd05052	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05067	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05082	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05070	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05073	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05083	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd05072	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd05034	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05068	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05069	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05039	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05148	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05032	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05036	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05062	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd06614	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	155	cd07831	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd07833	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	534	smart00220	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd06618	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd06635	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05057	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06645	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05111	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05054	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05103	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05102	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd06624	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05053	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05109	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05033	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05066	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06611	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05114	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05059	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05043	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	149	cd05113	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05112	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd06643	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd07852	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05110	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05088	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05038	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05081	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05079	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd05065	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05106	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd06613	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06651	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06625	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd06652	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd06612	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06653	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd06648	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05076	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05099	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd06644	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05116	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd05060	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05086	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05042	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05087	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	143	cd05593	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	146	cd05570	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05590	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05592	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05591	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd06632	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd05077	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05037	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	368	cd00192	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd05078	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153	cd05058	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd06630	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05044	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05041	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05040	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05085	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	142	cd05084	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05619	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05063	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	153_G	cd06620	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05051	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	154	cd06646	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05049	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd06656	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd06655	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05091	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05050	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05090	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	156	cd05064	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05048	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd07845	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05097	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05095	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05046	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05094	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd06637	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05093	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05096	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05092	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	148	cd05577	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	152	cd06631	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	664	cd05123	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd05047	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	448	cd00180	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	150	cd08221	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	144	cd05579	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05572	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd06659	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd06619	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05101	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd06654	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd07843	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd07838	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd07840	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	151	cd06626	4557377,NP_000052
695	547759	Disease	p.Arg544Lys	VAR_006258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006258	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd08220	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06608	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd06642	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd07870	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd06641	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd06640	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd07865	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd07873	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05100	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd07872	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd06638	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd06634	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd06607	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	302	cd05055	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05098	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd05115	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05080	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238_G	cd07830	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05035	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd05589	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd07835	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05108	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217_G	cd07829	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05074	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05075	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	548	smart00219	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	293_G	pfam00069	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	344	pfam07714	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	727	smart00221	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd06629	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175_G	cd05118	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd05616	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05583	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd07857	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd07836	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05587	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198_G	cd07841	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd07861	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd07842	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd08530	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd08219	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06627	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279_G	cd06606	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05122	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd08222	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd08218	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169_G	cd08529	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185_G	cd07832	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd07834	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05045	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd07839	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186_G	cd08528	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234_G	cd08217	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170_G	cd05578	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd07860	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd08225	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd08215	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd08223	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	305	cd05107	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	303	cd05105	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd05104	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd06647	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169_G	cd06917	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05631	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164_G	cd05605	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd08216	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05632	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd06628	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd05612	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd06609	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229_G	cd05580	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05573	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	799	COG0515	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd06616	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164_G	cd06615	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05574	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168_G	cd06617	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217_G	cd06623	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd08229	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170_G	cd08224	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	391	cd05581	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd08228	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd06605	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd06621	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd06622	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd07847	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd06610	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165_G	cd07846	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd07837	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd06658	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd07866	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd07864	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd07844	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd07871	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05071	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05089	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd07849	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05061	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05056	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05052	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05067	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05082	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05070	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05073	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05083	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05072	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05034	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05068	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05069	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05039	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05148	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05032	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05036	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05062	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd06614	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd07831	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211_G	cd07833	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	664	smart00220	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd06618	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd06635	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05057	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd06645	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05111	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	293	cd05054	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05103	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05102	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd06624	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05053	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05109	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05033	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05066	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd06611	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05114	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05059	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209_G	cd05043	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd05113	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05112	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd06643	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd07852	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05110	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05088	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05038	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05081	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05079	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05065	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd05106	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd06613	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd06651	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd06625	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd06652	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd06612	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd06653	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd06648	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183_G	cd05076	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05099	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd06644	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd05116	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05060	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd05086	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05042	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05087	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd05593	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd05570	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05590	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05592	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05591	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd06632	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171_G	cd05077	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187_G	cd05037	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	393	cd00192	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05078	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05058	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172_G	cd06630	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05044	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd05041	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05040	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	157	cd05085	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	158	cd05084	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	159	cd05619	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05063	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd06620	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05051	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd06646	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05049	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd06656	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd06655	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05091	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05050	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05090	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05064	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05048	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186_G	cd07845	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05097	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05095	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05046	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05094	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd06637	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05093	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05096	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05092	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163_G	cd05577	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd06631	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	734	cd05123	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05047	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	622	cd00180	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167_G	cd08221	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	387	cd05579	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228_G	cd05572	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd06659	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd06619	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05101	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd06654	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182_G	cd07843	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd07838	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222_G	cd07840	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd06626	4557377,NP_000052
695	547759	Disease	p.Phe559Ser	VAR_008325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008325	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173_G	cd08220	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208_G	cd06608	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166_G	cd06642	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd07870	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166_G	cd06641	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166_G	cd06640	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd07865	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd07873	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05100	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd07872	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189_G	cd06638	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176_G	cd06634	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176_G	cd06607	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	306	cd05055	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05098	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05115	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05080	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd07830	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05035	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05589	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd07835	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05108	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd07829	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05074	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05075	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	552	smart00219	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	294	pfam00069	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	347	pfam07714	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	758	smart00221	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178_G	cd06629	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05118	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05616	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05583	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd07857	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd07836	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05587	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd07841	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd07861	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd07842	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173_G	cd08530	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167_G	cd08219	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208_G	cd06627	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd06606	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205_G	cd05122	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171_G	cd08222	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd08218	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd08529	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd07832	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd07834	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05045	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd07839	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd08528	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd08217	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170_G	cd05578	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd07860	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd08225	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233_G	cd08215	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd08223	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	309	cd05107	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	307	cd05105	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	cd05104	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180_G	cd06647	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd06917	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05631	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05605	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd08216	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05632	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd06628	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166_G	cd05612	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194_G	cd06609	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229_G	cd05580	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05573	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	802	COG0515	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd06616	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd06615	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05574	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd06617	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217_G	cd06623	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd08229	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd08224	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	394	cd05581	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd08228	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd06605	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174_G	cd06621	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd06622	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172_G	cd07847	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd06610	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd07846	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd07837	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183_G	cd06658	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd07866	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd07864	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd07844	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd07871	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05071	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05089	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd07849	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05061	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05056	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05052	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05067	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd05082	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05070	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05073	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd05083	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05072	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05034	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd05068	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05069	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05039	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05148	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05032	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05036	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05062	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219_G	cd06614	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd07831	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd07833	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	667	smart00220	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd06618	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186_G	cd06635	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05057	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171_G	cd06645	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05111	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	296	cd05054	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05103	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05102	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd06624	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05053	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05109	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05033	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd05066	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170_G	cd06611	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05114	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05059	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05043	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05113	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05112	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168_G	cd06643	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd07852	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05110	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05088	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05038	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05081	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05079	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05065	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05106	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168_G	cd06613	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd06651	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174_G	cd06625	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd06652	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181_G	cd06612	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd06653	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181_G	cd06648	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05076	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05099	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175_G	cd06644	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05116	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05060	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05086	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05042	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05087	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd05593	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05570	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05590	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd05592	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05591	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187_G	cd06632	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05077	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05037	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	396	cd00192	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171_G	cd05078	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd05058	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd06630	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05044	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05041	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd05040	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd05085	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05084	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05619	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05063	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd06620	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05051	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171_G	cd06646	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05049	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180_G	cd06656	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180_G	cd06655	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05091	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05050	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05090	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd05064	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05048	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd07845	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05097	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05095	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05046	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05094	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd06637	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05093	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05096	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05092	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05577	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd06631	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	736_G	cd05123	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05047	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	625	cd00180	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd08221	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	390	cd05579	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228_G	cd05572	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182_G	cd06659	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179_G	cd06619	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05101	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181_G	cd06654	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd07843	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd07838	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd07840	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd06626	4557377,NP_000052
695	547759	Disease	p.Arg562Pro	VAR_006259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006259	rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd08220	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208_G	cd06608	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166_G	cd06642	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd07870	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166_G	cd06641	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166_G	cd06640	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd07865	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd07873	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05100	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd07872	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189_G	cd06638	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176_G	cd06634	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176_G	cd06607	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	306	cd05055	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05098	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05115	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05080	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd07830	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05035	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05589	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd07835	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05108	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd07829	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05074	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05075	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	552	smart00219	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	294	pfam00069	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	347	pfam07714	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	758	smart00221	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178_G	cd06629	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05118	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05616	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05583	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd07857	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd07836	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05587	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd07841	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd07861	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd07842	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173_G	cd08530	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167_G	cd08219	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208_G	cd06627	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd06606	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205_G	cd05122	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171_G	cd08222	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd08218	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd08529	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd07832	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd07834	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05045	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd07839	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd08528	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd08217	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170_G	cd05578	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd07860	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd08225	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233_G	cd08215	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd08223	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	309	cd05107	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	307	cd05105	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	cd05104	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180_G	cd06647	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd06917	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05631	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05605	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd08216	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05632	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd06628	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166_G	cd05612	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194_G	cd06609	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229_G	cd05580	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05573	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	802	COG0515	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd06616	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd06615	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05574	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd06617	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217_G	cd06623	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd08229	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd08224	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	394	cd05581	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd08228	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd06605	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174_G	cd06621	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd06622	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172_G	cd07847	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd06610	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd07846	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd07837	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183_G	cd06658	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd07866	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd07864	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd07844	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd07871	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05071	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05089	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd07849	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05061	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05056	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05052	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05067	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd05082	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05070	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05073	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd05083	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05072	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05034	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd05068	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05069	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05039	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05148	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05032	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05036	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05062	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219_G	cd06614	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd07831	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd07833	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	667	smart00220	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd06618	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186_G	cd06635	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05057	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171_G	cd06645	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05111	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	296	cd05054	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05103	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05102	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd06624	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05053	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05109	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05033	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd05066	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170_G	cd06611	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05114	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05059	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05043	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05113	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05112	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168_G	cd06643	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd07852	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05110	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05088	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05038	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05081	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05079	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05065	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05106	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168_G	cd06613	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd06651	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174_G	cd06625	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd06652	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181_G	cd06612	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd06653	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181_G	cd06648	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05076	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05099	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175_G	cd06644	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05116	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05060	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05086	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05042	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05087	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd05593	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05570	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05590	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd05592	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05591	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187_G	cd06632	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05077	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05037	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	396	cd00192	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171_G	cd05078	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd05058	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd06630	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05044	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05041	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd05040	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	160	cd05085	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05084	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05619	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05063	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd06620	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05051	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171_G	cd06646	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05049	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180_G	cd06656	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180_G	cd06655	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05091	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05050	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05090	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd05064	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05048	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd07845	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05097	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05095	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05046	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05094	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd06637	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05093	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05096	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05092	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05577	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd06631	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	736_G	cd05123	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05047	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	625	cd00180	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd08221	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	390	cd05579	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228_G	cd05572	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182_G	cd06659	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179_G	cd06619	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05101	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181_G	cd06654	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd07843	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd07838	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd07840	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd06626	4557377,NP_000052
695	547759	Disease	p.Arg562Trp	VAR_006260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006260	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd08220	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd06608	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd06642	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd07870	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd06641	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd06640	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd07865	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd07873	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05100	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd07872	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd06638	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd06634	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd06607	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	307	cd05055	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05098	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd05115	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05080	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd07830	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05035	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05589	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd07835	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05108	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd07829	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05074	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05075	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	553	smart00219	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	295	pfam00069	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	348	pfam07714	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	769	smart00221	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd06629	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05118	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05616	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05583	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd07857	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd07836	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05587	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd07841	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd07861	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282_G	cd07842	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd08530	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167_G	cd08219	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd06627	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd06606	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05122	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd08222	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd08218	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd08529	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd07832	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd07834	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05045	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd07839	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd08528	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd08217	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170_G	cd05578	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd07860	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd08225	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd08215	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd08223	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	310	cd05107	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	308	cd05105	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	292	cd05104	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd06647	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd06917	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05631	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05605	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd08216	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05632	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd06628	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166_G	cd05612	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06609	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229_G	cd05580	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05573	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	803	COG0515	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd06616	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd06615	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05574	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd06617	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217_G	cd06623	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd08229	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd08224	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	395	cd05581	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd08228	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd06605	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd06621	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd06622	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd07847	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd06610	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd07846	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd07837	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd06658	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd07866	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd07864	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd07844	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd07871	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05071	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05089	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd07849	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05061	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05056	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05052	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05067	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05082	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05070	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05073	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	163	cd05083	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05072	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05034	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05068	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05069	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05039	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05148	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05032	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05036	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05062	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd06614	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd07831	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd07833	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	706	smart00220	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd06618	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd06635	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05057	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd06645	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05111	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	297	cd05054	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05103	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05102	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd06624	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd05053	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05109	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05033	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05066	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd06611	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05114	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05059	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05043	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05113	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05112	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd06643	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd07852	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05110	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05088	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05038	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05081	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd05079	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05065	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	290	cd05106	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd06613	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd06651	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd06625	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd06652	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd06612	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd06653	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd06648	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05076	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05099	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd06644	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd05116	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05060	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05086	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05042	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05087	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05593	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd05570	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd05590	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05592	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd05591	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd06632	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd05077	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05037	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	397	cd00192	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05078	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05058	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd06630	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05044	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	164	cd05041	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05040	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	161	cd05085	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd05084	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	162	cd05619	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05063	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd06620	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05051	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd06646	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05049	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd06656	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd06655	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05091	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05050	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05090	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05064	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05048	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd07845	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05097	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd05095	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05046	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05094	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd06637	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05093	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd05096	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05092	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05577	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd06631	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	736_G	cd05123	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05047	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	626	cd00180	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd08221	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	391	cd05579	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05572	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd06659	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd06619	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05101	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd06654	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188_G	cd07843	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd07838	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228_G	cd07840	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06626	4557377,NP_000052
695	547759	Disease	p.Trp563Leu	VAR_008326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008326	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd08220	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd06608	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd06642	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd07870	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd06641	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd06640	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd07865	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd07873	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05100	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd07872	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd06638	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd06634	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd06607	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	311	cd05055	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05098	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05115	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05080	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd07830	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05035	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05589	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd07835	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05108	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd07829	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05074	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05075	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	557	smart00219	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	303	pfam00069	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	355	pfam07714	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	773	smart00221	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd06629	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05118	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05616	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05583	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd07857	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd07836	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05587	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd07841	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd07861	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd07842	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd08530	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd08219	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd06627	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd06606	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05122	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd08222	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd08218	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd08529	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd07832	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd07834	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05045	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd07839	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd08528	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd08217	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05578	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd07860	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd08225	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd08215	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd08223	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	314	cd05107	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	312	cd05105	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	296	cd05104	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd06647	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd06917	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05631	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05605	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd08216	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05632	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd06628	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05612	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd06609	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05580	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	308	cd05573	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	807	COG0515	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd06616	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd06615	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05574	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd06617	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217_G	cd06623	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd08229	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd08224	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	407	cd05581	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd08228	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06605	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd06621	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd06622	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd07847	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd06610	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd07846	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd07837	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd06658	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd07866	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd07864	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd07844	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd07871	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05071	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05089	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd07849	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05061	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd05056	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05052	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05067	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	169	cd05082	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05070	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd05073	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	167	cd05083	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd05072	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05034	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05068	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05069	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05039	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05148	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05032	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05036	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05062	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd06614	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd07831	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd07833	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	710	smart00220	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd06618	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd06635	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd05057	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd06645	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05111	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	301	cd05054	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05103	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05102	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd06624	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05053	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05109	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05033	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05066	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd06611	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05114	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd05059	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05043	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05113	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	171	cd05112	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd06643	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd07852	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05110	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05088	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05038	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05081	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05079	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05065	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	294	cd05106	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	173	cd06613	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd06651	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd06625	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd06652	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd06612	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd06653	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd06648	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05076	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05099	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd06644	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05116	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	175	cd05060	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	172	cd05086	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05042	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05087	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05593	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05570	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05590	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05592	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05591	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd06632	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd05077	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05037	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	401	cd00192	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05078	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05058	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd06630	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05044	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	168	cd05041	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05040	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	165	cd05085	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05084	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	166	cd05619	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05063	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd06620	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05051	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd06646	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05049	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd06656	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd06655	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05091	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05050	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05090	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05064	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05048	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd07845	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05097	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05095	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05046	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05094	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd06637	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05093	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05096	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05092	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	170	cd05577	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd06631	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	739	cd05123	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05047	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	630	cd00180	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	174	cd08221	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	713	cd05579	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd05572	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd06659	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd06619	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd05101	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd06654	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd07843	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd07838	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd07840	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd06626	4557377,NP_000052
695	547759	Disease	p.Glu567Lys	VAR_006261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006261	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd08220	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd06608	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd06642	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd07870	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd06641	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd06640	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd07865	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd07873	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05100	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd07872	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06638	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06634	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06607	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	322	cd05055	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05098	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05115	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05080	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd07830	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05035	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05589	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd07835	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05108	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd07829	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05074	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05075	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	570	smart00219	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	333	pfam00069	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	378	pfam07714	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	836	smart00221	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd06629	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05118	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05616	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05583	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd07857	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd07836	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05587	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd07841	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd07861	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	296	cd07842	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd08530	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd08219	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd06627	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	327	cd06606	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05122	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd08222	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd08218	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd08529	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd07832	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd07834	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05045	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd07839	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd08528	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd08217	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05578	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd07860	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd08225	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd08215	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd08223	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	325	cd05107	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	323	cd05105	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	307	cd05104	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd06647	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06917	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05631	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05605	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd08216	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05632	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd06628	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05612	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06609	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05580	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	326	cd05573	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	873	COG0515	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd06616	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd06615	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05574	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd06617	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd06623	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd08229	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd08224	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	432	cd05581	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd08228	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd06605	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd06621	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06622	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd07847	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd06610	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd07846	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd07837	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd06658	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd07866	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd07864	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd07844	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd07871	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05071	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05089	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd07849	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05061	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05056	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05052	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05067	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05082	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05070	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05073	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	178	cd05083	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05072	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05034	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05068	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05069	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05039	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05148	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05032	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05036	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05062	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd06614	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd07831	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd07833	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	775	smart00220	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd06618	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd06635	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05057	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd06645	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05111	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	312	cd05054	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05103	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05102	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd06624	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05053	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05109	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05033	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05066	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd06611	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05114	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05059	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05043	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05113	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05112	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd06643	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd07852	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05110	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05088	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05038	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05081	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05079	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05065	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	305	cd05106	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd06613	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd06651	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd06625	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd06652	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06612	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd06653	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd06648	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05076	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05099	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd06644	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05116	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05060	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05086	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05042	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05087	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05593	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05570	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05590	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05592	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05591	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd06632	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05077	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05037	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	419	cd00192	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05078	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05058	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd06630	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05044	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05041	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05040	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	176	cd05085	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05084	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	177	cd05619	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05063	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd06620	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05051	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd06646	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05049	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd06656	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd06655	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05091	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05050	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05090	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05064	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05048	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd07845	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05097	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05095	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05046	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05094	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd06637	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05093	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05096	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05092	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05577	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd06631	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	793	cd05123	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05047	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	666	cd00180	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd08221	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	725	cd05579	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05572	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd06659	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06619	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05101	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd06654	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd07843	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd07838	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd07840	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd06626	4557377,NP_000052
695	547759	Disease	p.Ser578Tyr	VAR_008964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008964	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd08220	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd06608	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd06642	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd07870	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd06641	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd06640	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd07865	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd07873	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05100	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd07872	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd06638	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd06634	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd06607	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	325	cd05055	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05098	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05115	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05080	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd07830	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd05035	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05589	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd07835	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05108	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd07829	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05074	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05075	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	573	smart00219	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	336	pfam00069	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	381	pfam07714	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	839	smart00221	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06629	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05118	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05616	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05583	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd07857	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd07836	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05587	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd07841	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd07861	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	300	cd07842	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd08530	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd08219	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd06627	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	330	cd06606	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05122	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd08222	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd08218	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd08529	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd07832	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd07834	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05045	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd07839	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd08528	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd08217	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05578	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd07860	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd08225	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd08215	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd08223	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	328	cd05107	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	326	cd05105	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	310	cd05104	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd06647	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd06917	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05631	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05605	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd08216	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05632	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06628	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05612	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd06609	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05580	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	329	cd05573	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	876	COG0515	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06616	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd06615	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd05574	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd06617	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd06623	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd08229	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd08224	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	435	cd05581	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd08228	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06605	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd06621	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd06622	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd07847	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06610	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd07846	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd07837	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06658	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd07866	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd07864	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd07844	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd07871	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05071	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05089	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd07849	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05061	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05056	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05052	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05067	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05082	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05070	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05073	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05083	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05072	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05034	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05068	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05069	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05039	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05148	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05032	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05036	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05062	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06614	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd07831	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd07833	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	778	smart00220	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd06618	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06635	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05057	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd06645	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05111	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	315	cd05054	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05103	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05102	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06624	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05053	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05109	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05033	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05066	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd06611	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05114	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05059	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05043	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05113	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05112	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd06643	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd07852	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05110	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05088	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05038	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05081	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05079	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05065	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	308	cd05106	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd06613	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd06651	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd06625	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd06652	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd06612	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd06653	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06648	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05076	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05099	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd06644	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05116	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05060	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05086	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05042	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05087	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05593	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05570	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05590	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05592	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05591	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06632	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05077	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05037	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	422	cd00192	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05078	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05058	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd06630	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05044	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05041	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05040	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	179	cd05085	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05084	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05619	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05063	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd06620	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05051	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd06646	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd05049	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd06656	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd06655	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05091	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05050	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05090	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05064	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05048	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd07845	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05097	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05095	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05046	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05094	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06637	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05093	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05096	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05092	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05577	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd06631	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	796	cd05123	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05047	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	669	cd00180	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd08221	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	728	cd05579	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05572	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06659	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd06619	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05101	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06654	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd07843	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd07838	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd07840	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd06626	4557377,NP_000052
695	547759	Disease	p.Trp581Arg	VAR_006262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006262	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd08220	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06608	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd06642	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd07870	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd06641	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd06640	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd07865	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd07873	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05100	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd07872	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd06638	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd06634	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd06607	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	326	cd05055	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05098	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05115	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05080	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd07830	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05035	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05589	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd07835	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05108	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd07829	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05074	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05075	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	574	smart00219	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	337	pfam00069	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	382	pfam07714	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	840	smart00221	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06629	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05118	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05616	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05583	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd07857	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd07836	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05587	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd07841	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd07861	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	301	cd07842	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd08530	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd08219	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd06627	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	331	cd06606	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05122	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd08222	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd08218	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd08529	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd07832	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd07834	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05045	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd07839	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd08528	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd08217	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05578	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd07860	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd08225	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd08215	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd08223	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	329	cd05107	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	327	cd05105	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	311	cd05104	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06647	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd06917	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05631	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05605	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd08216	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05632	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06628	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05612	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06609	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05580	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	330	cd05573	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	891	COG0515	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd06616	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd06615	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd05574	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd06617	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd06623	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd08229	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd08224	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	436	cd05581	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd08228	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd06605	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd06621	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06622	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd07847	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd06610	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd07846	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd07837	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd06658	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd07866	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd07864	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd07844	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd07871	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05071	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05089	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd07849	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05061	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05056	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05052	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05067	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05082	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05070	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05073	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05083	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05072	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05034	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05068	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05069	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05039	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05148	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05032	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd05036	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05062	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd06614	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd07831	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd07833	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	779	smart00220	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06618	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd06635	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05057	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd06645	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05111	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	316	cd05054	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05103	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05102	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06624	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05053	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05109	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05033	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05066	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06611	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05114	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05059	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05043	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05113	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05112	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd06643	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd07852	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05110	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05088	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05038	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05081	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05079	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05065	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	309	cd05106	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd06613	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd06651	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06625	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd06652	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd06612	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd06653	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06648	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05076	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05099	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06644	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05116	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05060	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05086	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05042	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05087	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05593	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05570	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05590	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05592	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05591	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd06632	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05077	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05037	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	423	cd00192	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05078	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05058	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd06630	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05044	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05041	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05040	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	180	cd05085	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05084	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05619	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05063	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd06620	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05051	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd06646	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05049	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06656	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06655	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05091	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05050	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05090	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05064	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05048	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd07845	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd05097	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05095	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05046	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05094	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06637	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05093	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05096	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd05092	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05577	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06631	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	797	cd05123	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05047	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	670	cd00180	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd08221	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	729	cd05579	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05572	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06659	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd06619	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05101	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06654	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd07843	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd07838	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd07840	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd06626	4557377,NP_000052
695	547759	Disease	p.Ala582Val	VAR_006263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006263	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd08220	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd06608	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd06642	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd07870	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd06641	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd06640	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd07865	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd07873	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05100	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd07872	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd06638	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06634	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06607	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	327	cd05055	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05098	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05115	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05080	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd07830	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05035	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05589	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd07835	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05108	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd07829	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05074	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05075	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	575	smart00219	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	338	pfam00069	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	383	pfam07714	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	841	smart00221	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06629	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05118	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05616	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05583	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd07857	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd07836	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05587	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd07841	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd07861	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	302	cd07842	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd08530	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd08219	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd06627	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	332	cd06606	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05122	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd08222	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd08218	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd08529	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd07832	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd07834	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05045	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd07839	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd08528	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd08217	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05578	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd07860	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd08225	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd08215	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd08223	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	330	cd05107	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	328	cd05105	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	312	cd05104	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06647	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06917	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05631	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05605	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd08216	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05632	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06628	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05612	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd06609	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05580	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	331	cd05573	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	892	COG0515	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd06616	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd06615	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd05574	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd06617	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06623	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd08229	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd08224	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	437	cd05581	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd08228	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06605	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06621	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd06622	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd07847	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06610	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd07846	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd07837	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd06658	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd07866	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd07864	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd07844	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd07871	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05071	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05089	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd07849	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05061	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05056	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05052	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05067	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05082	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05070	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05073	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	183	cd05083	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05072	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05034	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05068	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05069	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05039	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05148	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05032	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05036	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05062	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd06614	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd07831	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd07833	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	780	smart00220	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd06618	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06635	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05057	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06645	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05111	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	317	cd05054	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05103	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05102	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06624	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05053	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05109	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05033	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05066	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd06611	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05114	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05059	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05043	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05113	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05112	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd06643	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd07852	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05110	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd05088	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05038	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05081	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05079	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05065	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	310	cd05106	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06613	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06651	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd06625	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd06652	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06612	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06653	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06648	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05076	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05099	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06644	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05116	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05060	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05086	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05042	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05087	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05593	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05570	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05590	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05592	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05591	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06632	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05077	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05037	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	424	cd00192	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05078	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05058	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06630	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05044	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	184	cd05041	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05040	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	181	cd05085	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05084	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	182	cd05619	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05063	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd06620	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05051	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06646	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05049	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06656	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06655	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05091	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05050	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05090	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05064	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05048	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd07845	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05097	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05095	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05046	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd05094	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06637	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05093	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05096	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05092	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05577	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd06631	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	798	cd05123	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05047	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	671	cd00180	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd08221	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	730	cd05579	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05572	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd06659	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06619	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05101	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06654	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd07843	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd07838	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd07840	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd06626	4557377,NP_000052
695	547759	Disease	p.Phe583Ser	VAR_008327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008327	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd08220	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd06608	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd06642	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd07870	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd06641	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd06640	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd07865	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd07873	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05100	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd07872	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd06638	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd06634	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd06607	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	331	cd05055	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05098	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05115	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05080	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd07830	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05035	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05589	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd07835	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05108	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd07829	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05074	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05075	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	580	smart00219	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	342	pfam00069	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	387	pfam07714	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	856	smart00221	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06629	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05118	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05616	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05583	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd07857	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd07836	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05587	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd07841	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd07861	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	306	cd07842	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd08530	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd08219	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd06627	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	336	cd06606	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd05122	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd08222	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd08218	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd08529	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd07832	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd07834	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05045	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd07839	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd08528	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd08217	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05578	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd07860	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd08225	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd08215	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd08223	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	334	cd05107	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	332	cd05105	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	316	cd05104	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd06647	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd06917	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05631	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05605	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd08216	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05632	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06628	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05612	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd06609	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05580	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	335	cd05573	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	916	COG0515	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06616	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd06615	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd05574	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd06617	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06623	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd08229	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd08224	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	441	cd05581	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd08228	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd06605	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd06621	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd06622	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd07847	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd06610	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd07846	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd07837	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06658	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd07866	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd07864	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd07844	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd07871	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05071	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05089	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd07849	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05061	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05056	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05052	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05067	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05082	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05070	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05073	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05083	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05072	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05034	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05068	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05069	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05039	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05148	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05032	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05036	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05062	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd06614	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd07831	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd07833	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	784	smart00220	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd06618	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd06635	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05057	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd06645	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05111	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	321	cd05054	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05103	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05102	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06624	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05053	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05109	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd05033	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05066	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06611	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05114	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05059	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05043	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05113	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05112	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd06643	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd07852	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05110	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05088	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05038	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05081	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05079	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05065	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	314	cd05106	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd06613	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd06651	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06625	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd06652	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06612	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd06653	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06648	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05076	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05099	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd06644	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05116	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05060	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05086	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05042	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05087	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05593	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05570	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05590	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05592	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05591	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd06632	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05077	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05037	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	428	cd00192	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05078	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05058	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd06630	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd05044	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05041	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05040	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	185	cd05085	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05084	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	186	cd05619	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05063	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd06620	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05051	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd06646	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05049	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd06656	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd06655	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05091	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05050	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05090	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05064	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05048	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd07845	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05097	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05095	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd05046	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05094	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06637	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05093	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05096	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05092	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05577	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06631	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	802	cd05123	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05047	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	675	cd00180	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd08221	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	734	cd05579	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05572	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd06659	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd06619	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05101	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06654	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd07843	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd07838	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	290	cd07840	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd06626	4557377,NP_000052
695	547759	Disease	p.Met587Leu	VAR_006264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006264	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd08220	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06608	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd06642	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd07870	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd06641	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd06640	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd07865	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd07873	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05100	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd07872	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd06638	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06634	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06607	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	333	cd05055	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05098	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05115	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05080	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd07830	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05035	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05589	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd07835	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05108	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd07829	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05074	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05075	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	582	smart00219	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	344	pfam00069	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	389	pfam07714	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	858	smart00221	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06629	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05118	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05616	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05583	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd07857	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd07836	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05587	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd07841	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd07861	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	308	cd07842	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd08530	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd08219	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd06627	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	338	cd06606	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05122	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd08222	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd08218	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd08529	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd07832	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd07834	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05045	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd07839	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd08528	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd08217	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05578	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd07860	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd08225	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd08215	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd08223	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	336	cd05107	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	334	cd05105	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	318	cd05104	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd06647	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06917	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05631	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05605	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd08216	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05632	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06628	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05612	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd06609	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05580	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	337	cd05573	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	918	COG0515	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06616	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd06615	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05574	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06617	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd06623	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd08229	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd08224	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	443	cd05581	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd08228	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06605	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06621	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd06622	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd07847	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06610	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd07846	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd07837	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06658	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd07866	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd07864	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd07844	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd07871	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05071	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05089	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd07849	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05061	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05056	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05052	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05067	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05082	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05070	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05073	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05083	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05072	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05034	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05068	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05069	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05039	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05148	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05032	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05036	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05062	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd06614	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd07831	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd07833	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	786	smart00220	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd06618	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06635	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05057	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06645	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05111	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	323	cd05054	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd05103	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05102	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06624	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05053	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05109	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05033	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05066	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06611	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05114	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05059	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05043	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05113	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05112	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06643	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd07852	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05110	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05088	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05038	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05081	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05079	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05065	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	316	cd05106	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06613	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06651	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06625	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd06652	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06612	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06653	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06648	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05076	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05099	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd06644	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05116	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05060	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05086	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05042	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05087	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05593	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05570	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05590	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05592	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05591	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd06632	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05077	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05037	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	430	cd00192	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05078	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05058	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06630	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05044	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05041	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05040	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05085	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05084	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05619	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05063	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd06620	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05051	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06646	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05049	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd06656	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd06655	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd05091	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05050	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd05090	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05064	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05048	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd07845	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05097	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd05095	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd05046	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05094	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06637	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05093	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05096	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05092	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05577	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06631	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	804	cd05123	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05047	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	677	cd00180	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd08221	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	736	cd05579	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05572	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd06659	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06619	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05101	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06654	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd07843	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd07838	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	292	cd07840	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd06626	4557377,NP_000052
695	547759	Disease	p.Glu589Asp	VAR_008328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008328	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd08220	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06608	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd06642	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd07870	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd06641	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd06640	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd07865	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd07873	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05100	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd07872	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd06638	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06634	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06607	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	333	cd05055	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05098	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05115	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05080	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd07830	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05035	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05589	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd07835	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05108	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd07829	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05074	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05075	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	582	smart00219	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	344	pfam00069	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	389	pfam07714	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	858	smart00221	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06629	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05118	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05616	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05583	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd07857	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd07836	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05587	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd07841	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd07861	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	308	cd07842	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd08530	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd08219	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd06627	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	338	cd06606	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05122	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd08222	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd08218	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd08529	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd07832	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd07834	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05045	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd07839	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd08528	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd08217	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05578	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd07860	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd08225	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd08215	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd08223	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	336	cd05107	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	334	cd05105	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	318	cd05104	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd06647	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06917	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05631	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05605	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd08216	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05632	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06628	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05612	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd06609	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05580	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	337	cd05573	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	918	COG0515	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06616	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd06615	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05574	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06617	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd06623	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd08229	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd08224	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	443	cd05581	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd08228	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06605	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06621	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd06622	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd07847	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06610	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd07846	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd07837	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06658	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd07866	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd07864	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd07844	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd07871	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05071	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05089	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd07849	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05061	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05056	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05052	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05067	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05082	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05070	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05073	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05083	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05072	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05034	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05068	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05069	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05039	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05148	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05032	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05036	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05062	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd06614	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd07831	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd07833	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	786	smart00220	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd06618	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06635	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05057	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06645	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05111	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	323	cd05054	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd05103	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05102	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06624	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05053	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05109	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05033	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05066	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06611	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05114	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05059	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05043	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05113	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05112	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06643	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd07852	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05110	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05088	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05038	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05081	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05079	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05065	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	316	cd05106	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06613	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06651	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06625	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd06652	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06612	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06653	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06648	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05076	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05099	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd06644	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05116	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05060	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05086	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05042	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05087	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05593	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05570	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05590	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05592	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05591	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd06632	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05077	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05037	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	430	cd00192	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05078	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05058	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06630	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05044	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05041	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05040	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05085	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05084	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05619	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05063	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd06620	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05051	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06646	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05049	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd06656	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd06655	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd05091	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05050	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd05090	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05064	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05048	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd07845	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05097	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd05095	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd05046	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05094	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06637	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05093	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05096	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05092	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05577	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06631	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	804	cd05123	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05047	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	677	cd00180	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd08221	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	736	cd05579	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05572	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd06659	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06619	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05101	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06654	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd07843	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd07838	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	292	cd07840	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd06626	4557377,NP_000052
695	547759	Disease	p.Glu589Gly	VAR_006265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006265	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd08220	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06608	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd06642	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd07870	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd06641	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd06640	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd07865	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd07873	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05100	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd07872	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd06638	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06634	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06607	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	333	cd05055	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05098	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05115	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05080	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd07830	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05035	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05589	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd07835	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05108	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd07829	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05074	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05075	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	582	smart00219	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	344	pfam00069	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	389	pfam07714	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	858	smart00221	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06629	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05118	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05616	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05583	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd07857	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd07836	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05587	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd07841	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd07861	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	308	cd07842	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd08530	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd08219	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd06627	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	338	cd06606	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05122	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd08222	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd08218	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd08529	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd07832	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd07834	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05045	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd07839	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd08528	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd08217	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05578	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd07860	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd08225	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd08215	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd08223	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	336	cd05107	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	334	cd05105	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	318	cd05104	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd06647	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06917	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05631	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05605	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd08216	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05632	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06628	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05612	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd06609	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05580	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	337	cd05573	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	918	COG0515	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06616	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd06615	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05574	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06617	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd06623	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd08229	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd08224	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	443	cd05581	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd08228	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06605	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06621	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd06622	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd07847	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06610	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd07846	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd07837	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06658	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd07866	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd07864	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd07844	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd07871	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05071	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05089	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd07849	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05061	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05056	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05052	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05067	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05082	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05070	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05073	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189	cd05083	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05072	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05034	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05068	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05069	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05039	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05148	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05032	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05036	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05062	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd06614	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd07831	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd07833	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	786	smart00220	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd06618	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06635	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05057	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06645	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05111	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	323	cd05054	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd05103	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05102	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06624	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05053	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05109	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05033	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05066	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06611	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05114	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05059	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05043	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05113	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05112	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06643	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd07852	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05110	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05088	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05038	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05081	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05079	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05065	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	316	cd05106	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06613	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06651	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06625	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd06652	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06612	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06653	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06648	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05076	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05099	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd06644	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05116	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05060	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05086	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05042	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05087	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05593	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05570	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05590	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05592	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05591	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd06632	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05077	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05037	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	430	cd00192	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05078	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05058	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06630	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05044	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05041	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05040	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	187	cd05085	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05084	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	188	cd05619	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05063	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd06620	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05051	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06646	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05049	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd06656	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd06655	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd05091	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05050	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd05090	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05064	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05048	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd07845	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05097	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd05095	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd05046	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05094	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06637	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05093	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05096	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05092	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05577	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06631	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	804	cd05123	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05047	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	677	cd00180	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd08221	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	736	cd05579	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05572	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd06659	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06619	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05101	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06654	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd07843	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd07838	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	292	cd07840	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd06626	4557377,NP_000052
695	547759	Disease	p.Glu589Lys	VAR_008965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008965	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd08220	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd06608	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06642	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd07870	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06641	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd06640	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd07865	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd07873	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05100	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd07872	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd06638	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06634	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06607	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	336	cd05055	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05098	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05115	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05080	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd07830	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05035	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195_G	cd05589	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd07835	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05108	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd07829	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05074	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05075	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	585	smart00219	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	347	pfam00069	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	392	pfam07714	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	861	smart00221	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd06629	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05118	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05616	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05583	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd07857	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd07836	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200_G	cd05587	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd07841	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd07861	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	311	cd07842	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd08530	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd08219	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd06627	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	341	cd06606	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239_G	cd05122	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd08222	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd08218	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd08529	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216_G	cd07832	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd07834	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05045	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd07839	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd08528	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd08217	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205_G	cd05578	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd07860	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd08225	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd08215	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd08223	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	339	cd05107	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	337	cd05105	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	321	cd05104	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06647	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208_G	cd06917	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05631	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05605	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd08216	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05632	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd06628	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05612	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd06609	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd05580	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	340_G	cd05573	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	928	COG0515	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06616	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd06615	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	300	cd05574	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06617	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253_G	cd06623	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd08229	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd08224	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	446	cd05581	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd08228	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd06605	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd06621	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd06622	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd07847	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd06610	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd07846	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd07837	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd06658	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244_G	cd07866	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd07864	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd07844	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd07871	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05071	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05089	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd07849	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05061	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05056	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05052	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05067	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05082	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05070	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05073	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05083	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05072	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd05034	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05068	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05069	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05039	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05148	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05032	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05036	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05062	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06614	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd07831	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd07833	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	789	smart00220	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd06618	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd06635	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd05057	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd06645	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05111	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	326	cd05054	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd05103	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd05102	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06624	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05053	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05109	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05033	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05066	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202_G	cd06611	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05114	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05059	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05043	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05113	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05112	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd06643	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223_G	cd07852	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05110	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd05088	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05038	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05081	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05079	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05065	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	319	cd05106	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd06613	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd06651	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd06625	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd06652	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd06612	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd06653	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd06648	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05076	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05099	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06644	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05116	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05060	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05086	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05042	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd05087	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	189_G	cd05593	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192_G	cd05570	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05590	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206_G	cd05592	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05591	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221_G	cd06632	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05077	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05037	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	433	cd00192	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05078	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05058	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd06630	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05044	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05041	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05040	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190	cd05085	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05084	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	190_G	cd05619	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05063	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd06620	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05051	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd06646	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05049	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06656	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06655	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05091	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05050	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05090	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05064	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05048	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd07845	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05097	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05095	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd05046	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05094	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06637	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05093	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05096	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05092	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05577	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd06631	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	807	cd05123	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05047	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	680	cd00180	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd08221	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	738_G	cd05579	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265_G	cd05572	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06659	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06619	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05101	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd06654	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd07843	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd07838	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	294_G	cd07840	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd06626	4557377,NP_000052
695	547759	Disease	p.Ser592Pro	VAR_006267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006267	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd08220	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06608	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd06642	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd07870	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd06641	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd06640	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd07865	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd07873	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05100	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd07872	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd06638	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06634	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06607	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	338	cd05055	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05098	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05115	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05080	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	293	cd07830	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05035	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05589	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd07835	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05108	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd07829	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05074	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05075	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	587	smart00219	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	353	pfam00069	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	394	pfam07714	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	863	smart00221	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06629	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05118	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05616	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05583	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd07857	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd07836	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05587	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd07841	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198_G	cd07861	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	321	cd07842	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204_G	cd08530	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196_G	cd08219	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd06627	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	343	cd06606	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd05122	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202_G	cd08222	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197_G	cd08218	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd08529	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd07832	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	337	cd07834	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05045	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd07839	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd08528	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269_G	cd08217	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05578	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd07860	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198_G	cd08225	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266_G	cd08215	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd08223	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	341	cd05107	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	339	cd05105	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	323	cd05104	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd06647	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06917	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05631	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05605	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd08216	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05632	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06628	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05612	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd06609	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd05580	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	341	cd05573	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	930	COG0515	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd06616	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06615	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	302	cd05574	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd06617	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd06623	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd08229	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203_G	cd08224	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	447	cd05581	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd08228	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd06605	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd06621	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd06622	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd07847	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd06610	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd07846	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd07837	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd06658	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd07866	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216_G	cd07864	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd07844	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd07871	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05071	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05089	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd07849	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05061	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05056	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05052	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05067	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05082	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05070	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05073	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05083	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05072	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05034	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05068	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05069	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05039	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05148	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05032	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05036	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd05062	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd06614	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd07831	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd07833	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	791	smart00220	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd06618	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220_G	cd06635	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05057	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06645	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05111	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	328	cd05054	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd05103	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd05102	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06624	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05053	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05109	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05033	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05066	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202_G	cd06611	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05114	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05059	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05043	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05113	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05112	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204_G	cd06643	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd07852	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05110	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05088	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd05038	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05081	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd05079	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05065	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	321	cd05106	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd06613	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205_G	cd06651	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206_G	cd06625	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229_G	cd06652	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06612	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205_G	cd06653	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06648	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05076	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05099	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211_G	cd06644	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05116	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05060	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05086	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05042	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05087	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05593	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05570	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05590	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05592	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05591	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd06632	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05077	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05037	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	435	cd00192	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05078	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05058	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd06630	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05044	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05041	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05040	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05085	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05084	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05619	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05063	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06620	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05051	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06646	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05049	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd06656	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd06655	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05091	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05050	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05090	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05064	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05048	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd07845	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05097	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05095	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd05046	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05094	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06637	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05093	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05096	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05092	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05577	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06631	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	808	cd05123	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05047	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	682	cd00180	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd08221	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	740	cd05579	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05572	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd06659	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06619	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05101	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06654	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd07843	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd07838	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	296	cd07840	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd06626	4557377,NP_000052
695	547759	Disease	p.Gly594Glu	VAR_006268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006268	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd08220	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06608	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd06642	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd07870	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd06641	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd06640	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd07865	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd07873	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05100	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd07872	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd06638	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06634	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06607	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	338	cd05055	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05098	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05115	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05080	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	293	cd07830	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05035	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05589	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd07835	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05108	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd07829	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05074	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05075	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	587	smart00219	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	353	pfam00069	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	394	pfam07714	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	863	smart00221	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06629	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05118	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05616	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05583	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd07857	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd07836	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05587	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd07841	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198_G	cd07861	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	321	cd07842	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204_G	cd08530	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196_G	cd08219	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd06627	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	343	cd06606	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd05122	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202_G	cd08222	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197_G	cd08218	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd08529	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd07832	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	337	cd07834	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05045	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd07839	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd08528	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269_G	cd08217	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05578	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd07860	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198_G	cd08225	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266_G	cd08215	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd08223	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	341	cd05107	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	339	cd05105	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	323	cd05104	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd06647	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06917	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05631	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05605	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd08216	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05632	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06628	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05612	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd06609	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd05580	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	341	cd05573	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	930	COG0515	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd06616	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06615	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	302	cd05574	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd06617	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd06623	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd08229	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203_G	cd08224	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	447	cd05581	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd08228	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd06605	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd06621	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd06622	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd07847	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd06610	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd07846	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd07837	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd06658	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd07866	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216_G	cd07864	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd07844	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd07871	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05071	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05089	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd07849	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05061	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05056	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05052	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05067	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05082	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05070	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05073	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05083	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05072	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05034	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05068	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05069	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05039	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05148	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05032	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05036	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd05062	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd06614	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd07831	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd07833	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	791	smart00220	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd06618	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220_G	cd06635	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05057	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06645	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05111	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	328	cd05054	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd05103	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd05102	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06624	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05053	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05109	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05033	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05066	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202_G	cd06611	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05114	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05059	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05043	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05113	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05112	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204_G	cd06643	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd07852	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05110	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05088	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd05038	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05081	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd05079	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05065	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	321	cd05106	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd06613	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205_G	cd06651	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206_G	cd06625	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229_G	cd06652	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06612	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205_G	cd06653	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06648	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05076	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05099	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211_G	cd06644	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05116	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05060	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05086	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05042	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05087	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	191	cd05593	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	194	cd05570	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05590	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05592	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05591	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd06632	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05077	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05037	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	435	cd00192	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05078	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05058	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd06630	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05044	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05041	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05040	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05085	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	193	cd05084	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	192	cd05619	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05063	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd06620	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05051	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06646	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05049	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd06656	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd06655	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05091	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05050	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05090	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05064	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05048	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd07845	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05097	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05095	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd05046	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05094	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06637	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05093	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05096	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05092	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05577	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd06631	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	808	cd05123	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05047	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	682	cd00180	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd08221	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	740	cd05579	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05572	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd06659	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06619	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05101	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06654	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd07843	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd07838	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	296	cd07840	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd06626	4557377,NP_000052
695	547759	Disease	p.Gly594Arg	VAR_006269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006269	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd08220	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd06608	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06642	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd07870	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06641	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd06640	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd07865	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd07873	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05100	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd07872	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd06638	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06634	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd06607	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	342	cd05055	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd05098	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05115	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05080	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	294_G	cd07830	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05035	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05589	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd07835	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05108	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd07829	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05074	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05075	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	610	smart00219	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	363	pfam00069	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	413	pfam07714	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	867	smart00221	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06629	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05118	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05616	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd05583	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd07857	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd07836	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05587	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd07841	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd07861	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	362	cd07842	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd08530	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd08219	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06627	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	347	cd06606	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05122	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd08222	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd08218	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd08529	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd07832	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	341	cd07834	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05045	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd07839	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd08528	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd08217	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05578	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd07860	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd08225	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd08215	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd08223	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	345	cd05107	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	343	cd05105	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	327	cd05104	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd06647	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd06917	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05631	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05605	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd08216	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05632	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06628	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05612	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd06609	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd05580	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	345	cd05573	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	937	COG0515	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd06616	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06615	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	306	cd05574	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06617	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd06623	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd08229	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206_G	cd08224	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	451	cd05581	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd08228	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd06605	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd06621	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd06622	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd07847	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd06610	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd07846	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd07837	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd06658	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd07866	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd07864	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd07844	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd07871	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05071	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05089	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd07849	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05061	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05056	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05052	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05067	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	200	cd05082	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05070	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05073	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05083	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05072	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05034	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05068	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05069	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05039	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05148	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05032	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05036	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05062	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd06614	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd07831	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd07833	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	795	smart00220	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd06618	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd06635	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05057	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06645	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05111	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	332	cd05054	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd05103	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd05102	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06624	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05053	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05109	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05033	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05066	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd06611	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05114	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd05059	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05043	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	203	cd05113	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	202	cd05112	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd06643	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd07852	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05110	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05088	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05038	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05081	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05079	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05065	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	325	cd05106	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd06613	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd06651	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06625	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd06652	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd06612	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd06653	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06648	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05076	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05099	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd06644	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05116	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05060	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05086	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05042	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05087	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	195	cd05593	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	198	cd05570	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05590	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05592	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05591	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd06632	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05077	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05037	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	442	cd00192	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05078	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05058	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd06630	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05044	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	199	cd05041	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05040	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05085	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	197	cd05084	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	196	cd05619	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05063	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205_G	cd06620	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd05051	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06646	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd05049	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd06656	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd06655	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05091	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05050	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05090	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05064	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05048	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd07845	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd05097	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05095	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05046	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05094	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06637	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05093	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05096	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05092	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	201	cd05577	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06631	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	812	cd05123	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05047	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	686	cd00180	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	204	cd08221	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	744	cd05579	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05572	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd06659	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd06619	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05101	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06654	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd07843	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	cd07838	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	300	cd07840	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd06626	4557377,NP_000052
695	547759	Disease	p.Tyr598Cys	VAR_006270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006270	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209_G	cd08220	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd06608	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06642	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd07870	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06641	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd06640	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd07865	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd07873	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05100	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd07872	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06638	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd06634	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd06607	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	352	cd05055	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05098	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05115	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05080	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	325	cd07830	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd05035	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05589	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd07835	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05108	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	295	cd07829	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05074	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05075	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	644	smart00219	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	378	pfam00069	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	431	pfam07714	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	942	smart00221	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd06629	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05118	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05616	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05583	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd07857	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd07836	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05587	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd07841	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208_G	cd07861	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	376	cd07842	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd08530	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd08219	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd06627	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	362	cd06606	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	296	cd05122	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd08222	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd08218	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd08529	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd07832	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	358	cd07834	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05045	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd07839	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd08528	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd08217	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05578	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd07860	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd08225	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd08215	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd08223	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	355	cd05107	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	353	cd05105	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	337	cd05104	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd06647	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd06917	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	210	cd05631	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05605	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd08216	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05632	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd06628	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05612	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	298	cd06609	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	295	cd05580	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	356	cd05573	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	992	COG0515	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd06616	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd06615	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	319	cd05574	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd06617	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	278	cd06623	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd08229	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd08224	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	463	cd05581	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd08228	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	278	cd06605	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd06621	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd06622	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd07847	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd06610	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd07846	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd07837	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd06658	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	305	cd07866	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd07864	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd07844	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd07871	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05071	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05089	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd07849	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05061	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05056	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05052	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05067	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	209	cd05082	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05070	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05073	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	207	cd05083	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05072	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05034	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05068	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05069	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05039	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05148	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05032	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05036	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05062	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06614	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd07831	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	324	cd07833	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	878	smart00220	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd06618	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd06635	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd05057	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd06645	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05111	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	342	cd05054	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	293	cd05103	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	cd05102	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd06624	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05053	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05109	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05033	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05066	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213_G	cd06611	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05114	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05059	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05043	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05113	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05112	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd06643	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd07852	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05110	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05088	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd05038	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05081	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05079	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05065	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	335	cd05106	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212_G	cd06613	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd06651	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd06625	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd06652	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd06612	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd06653	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd06648	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05076	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05099	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd06644	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05116	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05060	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05086	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05042	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05087	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05593	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05570	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05590	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05592	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05591	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd06632	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05077	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05037	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	462	cd00192	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05078	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05058	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd06630	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05044	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	208	cd05041	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05040	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05085	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	206	cd05084	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	205	cd05619	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05063	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd06620	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	302	cd05051	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd06646	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05049	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd06656	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd06655	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05091	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05050	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05090	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05064	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05048	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd07845	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05097	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05095	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	298	cd05046	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	295	cd05094	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd06637	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05093	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd05096	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05092	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05577	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd06631	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	830	cd05123	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05047	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	695	cd00180	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd08221	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	768	cd05579	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd05572	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd06659	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd06619	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05101	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd06654	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd07843	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	328	cd07838	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	321	cd07840	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd06626	4557377,NP_000052
695	547759	Disease	p.Ala607Asp	VAR_006271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006271	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd08220	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd06608	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06642	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd07870	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd06641	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214_G	cd06640	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd07865	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd07873	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05100	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd07872	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd06638	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd06634	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd06607	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	358	cd05055	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05098	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05115	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05080	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	331	cd07830	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd05035	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05589	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd07835	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05108	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	303	cd07829	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05074	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05075	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	651	smart00219	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	384	pfam00069	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	440	pfam07714	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	949	smart00221	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd06629	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05118	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05616	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05583	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd07857	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd07836	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05587	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd07841	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd07861	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	384	cd07842	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd08530	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd08219	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd06627	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	374	cd06606	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	307	cd05122	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd08222	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd08218	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd08529	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	293	cd07832	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	364	cd07834	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05045	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd07839	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd08528	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd08217	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05578	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd07860	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd08225	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd08215	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd08223	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	361	cd05107	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	359	cd05105	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	343	cd05104	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd06647	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd06917	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	216	cd05631	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05605	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280_G	cd08216	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05632	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd06628	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05612	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	308	cd06609	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	301	cd05580	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	363	cd05573	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	998	COG0515	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd06616	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd06615	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	348	cd05574	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd06617	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	290	cd06623	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd08229	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd08224	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	474	cd05581	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd08228	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd06605	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229_G	cd06621	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd06622	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd07847	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd06610	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd07846	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd07837	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd06658	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	311	cd07866	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd07864	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd07844	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd07871	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05071	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05089	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd07849	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05061	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05056	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05052	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05067	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	215	cd05082	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05070	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05073	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	213	cd05083	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05072	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05034	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05068	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05069	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05039	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05148	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd05032	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05036	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05062	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd06614	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd07831	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	330	cd07833	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	908	smart00220	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238_G	cd06618	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd06635	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd05057	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd06645	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05111	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	348	cd05054	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd05103	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	297	cd05102	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd06624	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05053	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05109	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05033	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05066	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd06611	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05114	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05059	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05043	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd05113	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05112	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd06643	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	278	cd07852	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05110	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05088	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd05038	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05081	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05079	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05065	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	341	cd05106	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd06613	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd06651	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd06625	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06652	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd06612	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd06653	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd06648	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05076	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05099	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd06644	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05116	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05060	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05086	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05042	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05087	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05593	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05570	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05590	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05592	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05591	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd06632	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05077	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05037	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	475	cd00192	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05078	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05058	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd06630	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd05044	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	214	cd05041	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05040	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05085	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	212	cd05084	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	211	cd05619	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05063	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd06620	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	310	cd05051	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd06646	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05049	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd06656	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd06655	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05091	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05050	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05090	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05064	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05048	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	295	cd07845	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05097	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd05095	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	304	cd05046	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	301	cd05094	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229_G	cd06637	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05093	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd05096	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05092	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05577	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd06631	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	836	cd05123	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05047	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	819	cd00180	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd08221	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	776	cd05579	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	295	cd05572	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd06659	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd06619	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05101	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd06654	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	293	cd07843	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	334	cd07838	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	327	cd07840	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd06626	4557377,NP_000052
695	547759	Disease	p.Gly613Asp	VAR_006272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006272	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd08220	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd06608	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd06642	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd07870	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd06641	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd06640	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd07865	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd07873	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05100	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd07872	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd06638	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06634	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd06607	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	364	cd05055	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05098	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05115	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05080	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	341	cd07830	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05035	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05589	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd07835	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05108	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	309	cd07829	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05074	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05075	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	658	smart00219	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	392	pfam00069	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	449	pfam07714	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	974	smart00221	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd06629	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05118	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05616	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd05583	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd07857	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd07836	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05587	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	303	cd07841	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd07861	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	390	cd07842	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd08530	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd08219	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd06627	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	380	cd06606	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	313	cd05122	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd08222	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd08218	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd08529	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd07832	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	373	cd07834	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05045	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd07839	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd08528	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	295	cd08217	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05578	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd07860	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd08225	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	293	cd08215	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd08223	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	367	cd05107	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	365	cd05105	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	349	cd05104	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06647	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd06917	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05631	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05605	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283_G	cd08216	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05632	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06628	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05612	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	314	cd06609	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	361	cd05580	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	369	cd05573	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1107	COG0515	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd06616	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd06615	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	377	cd05574	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd06617	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	296	cd06623	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd08229	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd08224	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	480	cd05581	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd08228	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	294	cd06605	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd06621	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd06622	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd07847	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd06610	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd07846	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd07837	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd06658	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	318	cd07866	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd07864	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd07844	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd07871	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05071	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05089	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd07849	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05061	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05056	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05052	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05067	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05082	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05070	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05073	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05083	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05072	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05034	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05068	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05069	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05039	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05148	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05032	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05036	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd05062	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd06614	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd07831	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	336	cd07833	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	968	smart00220	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd06618	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd06635	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd05057	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd06645	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05111	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	354	cd05054	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	305	cd05103	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	303	cd05102	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd06624	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd05053	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05109	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05033	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05066	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd06611	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05114	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05059	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05043	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05113	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05112	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd06643	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd07852	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05110	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05088	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd05038	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05081	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05079	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05065	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	347	cd05106	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd06613	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd06651	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd06625	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd06652	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06612	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd06653	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd06648	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05076	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05099	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06644	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05116	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05060	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05086	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05042	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05087	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05593	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05570	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05590	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05592	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05591	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06632	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05077	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05037	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	481	cd00192	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05078	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05058	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd06630	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd05044	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05041	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05040	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05085	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd05084	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05619	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05063	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd06620	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	318	cd05051	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd06646	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05049	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06656	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06655	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05091	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05050	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05090	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05064	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05048	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	301	cd07845	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05097	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05095	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	311	cd05046	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	307	cd05094	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd06637	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05093	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd05096	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05092	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05577	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd06631	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	844	cd05123	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05047	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	825	cd00180	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd08221	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	781	cd05579	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	301	cd05572	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd06659	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd06619	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05101	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd06654	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd07843	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	340	cd07838	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	356	cd07840	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd06626	4557377,NP_000052
695	547759	Disease	p.Pro619Ala	VAR_008330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008330	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd08220	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd06608	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd06642	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd07870	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd06641	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd06640	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd07865	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd07873	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05100	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd07872	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd06638	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06634	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd06607	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	364	cd05055	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05098	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05115	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05080	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	341	cd07830	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05035	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05589	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd07835	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05108	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	309	cd07829	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05074	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05075	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	658	smart00219	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	392	pfam00069	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	449	pfam07714	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	974	smart00221	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd06629	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05118	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05616	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd05583	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd07857	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd07836	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05587	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	303	cd07841	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd07861	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	390	cd07842	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd08530	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd08219	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd06627	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	380	cd06606	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	313	cd05122	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd08222	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd08218	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd08529	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd07832	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	373	cd07834	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05045	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd07839	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd08528	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	295	cd08217	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05578	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd07860	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd08225	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	293	cd08215	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd08223	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	367	cd05107	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	365	cd05105	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	349	cd05104	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06647	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd06917	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05631	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05605	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283_G	cd08216	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05632	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06628	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05612	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	314	cd06609	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	361	cd05580	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	369	cd05573	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1107	COG0515	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd06616	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd06615	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	377	cd05574	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd06617	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	296	cd06623	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd08229	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd08224	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	480	cd05581	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd08228	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	294	cd06605	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd06621	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd06622	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd07847	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd06610	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd07846	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd07837	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd06658	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	318	cd07866	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd07864	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd07844	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd07871	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05071	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05089	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd07849	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05061	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05056	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05052	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05067	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05082	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05070	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05073	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05083	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05072	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05034	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05068	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05069	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05039	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05148	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05032	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05036	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd05062	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd06614	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd07831	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	336	cd07833	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	968	smart00220	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd06618	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd06635	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd05057	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd06645	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05111	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	354	cd05054	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	305	cd05103	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	303	cd05102	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd06624	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd05053	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05109	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05033	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05066	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd06611	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05114	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05059	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05043	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05113	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05112	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd06643	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd07852	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05110	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05088	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd05038	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05081	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05079	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05065	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	347	cd05106	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd06613	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd06651	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd06625	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd06652	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06612	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd06653	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd06648	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05076	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05099	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06644	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05116	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05060	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05086	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05042	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05087	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05593	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05570	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05590	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05592	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05591	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06632	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05077	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05037	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	481	cd00192	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05078	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05058	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd06630	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd05044	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05041	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05040	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05085	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd05084	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05619	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05063	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd06620	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	318	cd05051	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd06646	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05049	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06656	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06655	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05091	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05050	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05090	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05064	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05048	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	301	cd07845	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05097	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05095	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	311	cd05046	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	307	cd05094	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd06637	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05093	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd05096	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05092	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05577	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd06631	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	844	cd05123	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05047	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	825	cd00180	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd08221	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	781	cd05579	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	301	cd05572	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd06659	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd06619	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05101	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd06654	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd07843	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	340	cd07838	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	356	cd07840	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd06626	4557377,NP_000052
695	547759	Disease	p.Pro619Ser	VAR_006273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006273	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd08220	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd06608	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd06642	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd07870	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd06641	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd06640	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd07865	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd07873	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05100	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd07872	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd06638	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06634	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd06607	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	364	cd05055	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05098	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05115	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05080	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	341	cd07830	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05035	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05589	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd07835	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05108	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	309	cd07829	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05074	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05075	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	658	smart00219	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	392	pfam00069	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	449	pfam07714	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	974	smart00221	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd06629	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05118	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05616	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd05583	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd07857	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd07836	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05587	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	303	cd07841	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd07861	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	390	cd07842	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd08530	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd08219	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd06627	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	380	cd06606	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	313	cd05122	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd08222	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd08218	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd08529	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd07832	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	373	cd07834	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05045	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd07839	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd08528	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	295	cd08217	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05578	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd07860	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd08225	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	293	cd08215	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd08223	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	367	cd05107	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	365	cd05105	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	349	cd05104	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06647	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd06917	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05631	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05605	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283_G	cd08216	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05632	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06628	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05612	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	314	cd06609	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	361	cd05580	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	369	cd05573	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1107	COG0515	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd06616	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd06615	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	377	cd05574	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd06617	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	296	cd06623	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd08229	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd08224	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	480	cd05581	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd08228	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	294	cd06605	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd06621	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd06622	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd07847	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd06610	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd07846	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd07837	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd06658	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	318	cd07866	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd07864	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd07844	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd07871	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05071	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05089	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd07849	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05061	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05056	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05052	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05067	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05082	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05070	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05073	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	219	cd05083	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05072	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05034	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05068	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05069	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05039	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05148	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05032	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05036	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd05062	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd06614	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd07831	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	336	cd07833	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	968	smart00220	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd06618	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd06635	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd05057	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd06645	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05111	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	354	cd05054	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	305	cd05103	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	303	cd05102	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd06624	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd05053	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05109	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05033	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05066	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd06611	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05114	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05059	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05043	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05113	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05112	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd06643	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd07852	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05110	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05088	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd05038	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05081	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05079	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05065	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	347	cd05106	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd06613	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd06651	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd06625	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd06652	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06612	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd06653	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd06648	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05076	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05099	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06644	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05116	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05060	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05086	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05042	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05087	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05593	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05570	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05590	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05592	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05591	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06632	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05077	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05037	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	481	cd00192	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05078	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05058	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd06630	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd05044	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05041	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05040	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05085	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	218	cd05084	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	217	cd05619	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05063	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd06620	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	318	cd05051	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd06646	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05049	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06656	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06655	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05091	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05050	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05090	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05064	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05048	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	301	cd07845	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05097	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05095	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	311	cd05046	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	307	cd05094	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd06637	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05093	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd05096	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05092	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05577	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd06631	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	844	cd05123	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05047	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	825	cd00180	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd08221	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	781	cd05579	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	301	cd05572	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd06659	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd06619	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05101	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd06654	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd07843	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	340	cd07838	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	356	cd07840	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd06626	4557377,NP_000052
695	547759	Disease	p.Pro619Thr	VAR_008331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008331	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd08220	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd06608	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd06642	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd07870	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd06641	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd06640	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	298	cd07865	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd07873	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05100	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd07872	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd06638	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd06634	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06607	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	367	cd05055	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05098	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05115	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05080	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	344	cd07830	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05035	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05589	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd07835	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05108	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	312	cd07829	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05074	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05075	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	668	smart00219	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	395	pfam00069	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	452	pfam07714	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	977	smart00221	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06629	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd05118	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05616	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05583	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd07857	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd07836	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05587	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	306	cd07841	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd07861	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	407	cd07842	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd08530	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd08219	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd06627	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	383	cd06606	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	323	cd05122	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd08222	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd08218	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd08529	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	304	cd07832	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	376	cd07834	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05045	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd07839	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd08528	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	298	cd08217	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd05578	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253_G	cd07860	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226_G	cd08225	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	296	cd08215	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd08223	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	370	cd05107	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	368	cd05105	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	352	cd05104	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd06647	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd06917	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05631	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05605	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283_G	cd08216	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05632	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd06628	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd05612	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	364	cd05580	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	372	cd05573	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1110	COG0515	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd06616	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd06615	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	384	cd05574	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd06617	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	310	cd06623	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd08229	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd08224	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	499	cd05581	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd08228	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	297	cd06605	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06621	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06622	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd07847	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd06610	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd07846	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd07837	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd06658	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	322	cd07866	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd07864	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd07844	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd07871	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05071	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd05089	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd07849	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05061	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05056	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05052	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05067	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05082	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05070	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05073	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	222	cd05083	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05072	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05034	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05068	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05069	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05039	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05148	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	292	cd05032	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05036	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05062	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd06614	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd07831	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	339	cd07833	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1094	smart00220	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06618	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06635	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	290	cd05057	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd06645	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05111	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	357	cd05054	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	308	cd05103	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	306	cd05102	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd06624	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	278	cd05053	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05109	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05033	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05066	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd06611	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05114	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05059	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05043	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05113	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05112	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd06643	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd07852	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05110	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05088	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	292	cd05038	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05081	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05079	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05065	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	350	cd05106	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd06613	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd06651	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd06625	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd06652	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd06612	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd06653	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd06648	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05076	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05099	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd06644	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05116	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05060	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05086	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05042	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05087	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05593	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05570	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05590	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05592	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05591	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd06632	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233_G	cd05077	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05037	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	484	cd00192	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05078	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05058	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237_G	cd06630	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05044	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	223	cd05041	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05040	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05085	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	221	cd05084	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	220	cd05619	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05063	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	290	cd06620	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	321	cd05051	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd06646	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05049	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd06656	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd06655	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05091	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd05050	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05090	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05064	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05048	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	304	cd07845	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05097	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05095	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	314	cd05046	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	310	cd05094	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd06637	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05093	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	302	cd05096	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05092	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05577	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd06631	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	847	cd05123	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05047	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	828	cd00180	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd08221	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	793	cd05579	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	304	cd05572	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd06659	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd06619	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05101	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd06654	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	302	cd07843	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	359	cd07840	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd06626	4557377,NP_000052
695	547759	Disease	p.Ala622Pro	VAR_008332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008332	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd08220	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd06608	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd06642	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd07870	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd06641	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd06640	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	302	cd07865	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd07873	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05100	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd07872	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd06638	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06634	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06607	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	371	cd05055	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05098	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05115	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05080	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	348	cd07830	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05035	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05589	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd07835	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05108	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	323	cd07829	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05074	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05075	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	673	smart00219	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	442	pfam00069	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	456	pfam07714	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	981	smart00221	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd06629	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd05118	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05616	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05583	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd07857	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd07836	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05587	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	310	cd07841	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd07861	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	411	cd07842	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd08530	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd08219	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd06627	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	403	cd06606	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	327	cd05122	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd08222	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd08218	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd08529	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	308	cd07832	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	380	cd07834	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05045	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd07839	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd08528	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	302	cd08217	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05578	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd07860	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd08225	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	311	cd08215	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd08223	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	374	cd05107	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	372	cd05105	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	356	cd05104	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06647	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd06917	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05631	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd05605	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd08216	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd05632	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06628	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05612	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	387	cd05580	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	385	cd05573	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1139	COG0515	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd06616	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	278	cd06615	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd06617	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	314	cd06623	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd08229	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd08224	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	503	cd05581	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd08228	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	303	cd06605	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd06621	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd06622	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd07847	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06610	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd07846	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd07837	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd06658	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	326	cd07866	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd07864	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd07844	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd07871	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05071	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05089	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd07849	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05061	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05056	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05052	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05067	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05082	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05070	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05073	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	226	cd05083	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05072	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05034	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05068	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05069	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd05039	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05148	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd05032	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05036	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05062	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd06614	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd07831	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	344	cd07833	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1181	smart00220	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd06618	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd06635	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	294	cd05057	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd06645	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05111	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	361	cd05054	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	312	cd05103	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	310	cd05102	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd06624	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd05053	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05109	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd05033	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05066	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd06611	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05114	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05059	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05043	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05113	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05112	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06643	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	cd07852	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05110	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05088	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	301	cd05038	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05081	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05079	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05065	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	354	cd05106	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd06613	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06651	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd06625	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd06652	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd06612	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd06653	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd06648	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05076	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05099	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06644	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05116	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05060	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd05086	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05042	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05087	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05593	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05570	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05590	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05592	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05591	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd06632	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05077	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05037	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	494	cd00192	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05078	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05058	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd06630	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05044	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	227	cd05041	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05040	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	224	cd05085	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	225	cd05084	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05619	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05063	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	300	cd06620	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	325	cd05051	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd06646	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05049	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06656	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06655	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05091	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05050	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05090	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05064	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05048	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	308	cd07845	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05097	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd05095	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	318	cd05046	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	314	cd05094	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06637	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05093	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	306	cd05096	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05092	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05577	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd06631	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	878	cd05123	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05047	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	832	cd00180	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd08221	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	797	cd05579	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	310	cd05572	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd06659	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd06619	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05101	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd06654	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	313	cd07843	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	363	cd07840	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd06626	4557377,NP_000052
695	547759	Disease	p.Val626Gly	VAR_008333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008333	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd08220	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd06608	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd06642	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd07870	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd06641	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd06640	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	319	cd07865	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd07873	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05100	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd07872	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06638	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06634	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd06607	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	375	cd05055	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd05098	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05115	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05080	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	356	cd07830	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05035	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05589	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd07835	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05108	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	326_G	cd07829	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05074	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05075	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	679	smart00219	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	446	pfam00069	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	461	pfam07714	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	985	smart00221	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd06629	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd05118	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05616	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05583	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd07857	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd07836	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05587	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	314	cd07841	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd07861	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	415	cd07842	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd08530	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd08219	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd06627	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	407	cd06606	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	331	cd05122	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd08222	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd08218	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd08529	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	312	cd07832	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	430	cd07834	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05045	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd07839	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd08528	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	306	cd08217	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd05578	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd07860	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd08225	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	315	cd08215	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd08223	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	378	cd05107	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	376	cd05105	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	360	cd05104	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06647	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd06917	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05631	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05605	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	cd08216	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05632	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06628	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05612	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	391	cd05580	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	389	cd05573	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1143	COG0515	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd06616	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd06615	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd06617	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	318	cd06623	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd08229	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd08224	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	507	cd05581	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd08228	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	307	cd06605	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd06621	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd06622	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd07847	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd06610	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd07846	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd07837	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd06658	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	330	cd07866	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd07864	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd07844	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd07871	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05071	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05089	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd07849	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05061	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05056	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05052	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05067	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05082	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05070	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05073	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05083	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05072	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05034	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05068	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05069	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05039	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05148	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	303	cd05032	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05036	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05062	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd06614	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd07831	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	348	cd07833	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1186	smart00220	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd06618	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd06635	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	298	cd05057	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd06645	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05111	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	365	cd05054	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	316	cd05103	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	314	cd05102	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd06624	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd05053	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05109	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	278	cd05033	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05066	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd06611	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05114	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05059	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd05043	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd05113	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05112	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd06643	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	295	cd07852	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05110	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05088	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	305	cd05038	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05081	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05079	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05065	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	358	cd05106	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06613	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd06651	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd06625	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd06652	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd06612	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd06653	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd06648	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05076	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05099	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06644	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05116	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05060	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05086	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05042	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05087	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05593	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05570	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05590	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05592	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05591	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06632	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05077	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05037	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	498	cd00192	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05078	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05058	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06630	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05044	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05041	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05040	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05085	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05084	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05619	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05063	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	304	cd06620	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	329	cd05051	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06646	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05049	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06656	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06655	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05091	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05050	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05090	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05064	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05048	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	312	cd07845	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd05097	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd05095	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	322	cd05046	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	318	cd05094	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06637	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05093	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	310	cd05096	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05092	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05577	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd06631	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	882	cd05123	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05047	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	836	cd00180	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd08221	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	801	cd05579	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	314	cd05572	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd06659	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06619	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05101	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd06654	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	317	cd07843	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	368	cd07840	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd06626	4557377,NP_000052
695	547759	Disease	p.Met630Lys	VAR_006275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006275	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd08220	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd06608	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd06642	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd07870	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd06641	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd06640	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	319	cd07865	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd07873	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05100	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd07872	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06638	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06634	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd06607	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	375	cd05055	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd05098	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05115	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05080	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	356	cd07830	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05035	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05589	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd07835	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05108	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	326_G	cd07829	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05074	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05075	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	679	smart00219	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	446	pfam00069	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	461	pfam07714	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	985	smart00221	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd06629	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd05118	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05616	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05583	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd07857	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd07836	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05587	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	314	cd07841	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd07861	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	415	cd07842	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd08530	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd08219	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd06627	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	407	cd06606	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	331	cd05122	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd08222	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd08218	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd08529	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	312	cd07832	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	430	cd07834	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05045	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd07839	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd08528	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	306	cd08217	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd05578	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd07860	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd08225	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	315	cd08215	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd08223	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	378	cd05107	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	376	cd05105	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	360	cd05104	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06647	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd06917	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05631	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05605	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	cd08216	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05632	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06628	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05612	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	391	cd05580	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	389	cd05573	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1143	COG0515	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd06616	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd06615	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd06617	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	318	cd06623	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd08229	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd08224	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	507	cd05581	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd08228	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	307	cd06605	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd06621	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd06622	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd07847	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd06610	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd07846	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd07837	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd06658	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	330	cd07866	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd07864	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd07844	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd07871	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05071	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05089	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd07849	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05061	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05056	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05052	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05067	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05082	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05070	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05073	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	230	cd05083	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05072	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05034	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05068	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05069	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05039	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05148	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	303	cd05032	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05036	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05062	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd06614	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd07831	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	348	cd07833	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1186	smart00220	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd06618	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd06635	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	298	cd05057	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd06645	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05111	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	365	cd05054	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	316	cd05103	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	314	cd05102	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd06624	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd05053	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05109	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	278	cd05033	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05066	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd06611	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05114	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd05059	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd05043	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd05113	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05112	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd06643	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	295	cd07852	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05110	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05088	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	305	cd05038	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05081	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05079	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05065	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	358	cd05106	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06613	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd06651	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd06625	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd06652	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd06612	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd06653	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd06648	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05076	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05099	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06644	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05116	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05060	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05086	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05042	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05087	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05593	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05570	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05590	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05592	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05591	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06632	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05077	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05037	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	498	cd00192	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05078	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05058	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06630	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05044	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05041	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05040	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	228	cd05085	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	229	cd05084	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05619	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05063	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	304	cd06620	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	329	cd05051	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06646	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05049	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06656	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06655	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05091	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05050	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05090	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05064	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05048	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	312	cd07845	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd05097	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd05095	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	322	cd05046	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	318	cd05094	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd06637	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05093	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	310	cd05096	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05092	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05577	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd06631	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	882	cd05123	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05047	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	836	cd00180	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd08221	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	801	cd05579	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	314	cd05572	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd06659	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06619	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05101	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd06654	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	317	cd07843	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	368	cd07840	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd06626	4557377,NP_000052
695	547759	Disease	p.Met630Thr	VAR_008334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008334	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd08220	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	290	cd06608	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd06642	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd07870	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd06641	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd06640	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	322	cd07865	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	278	cd07873	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05100	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd07872	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd06638	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd06634	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd06607	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	378	cd05055	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	278	cd05098	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05115	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd05080	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	359	cd07830	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05035	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05589	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd07835	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05108	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	327	cd07829	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05074	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05075	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	682	smart00219	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	449	pfam00069	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	464	pfam07714	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	988	smart00221	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd06629	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	cd05118	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05616	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd05583	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd07857	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd07836	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05587	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	317	cd07841	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd07861	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	418	cd07842	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd08530	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd08219	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd06627	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	410	cd06606	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	334	cd05122	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd08222	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	236	cd08218	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd08529	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	465	cd07834	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05045	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd07839	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd08528	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	309	cd08217	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05578	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd07860	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd08225	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	318	cd08215	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd08223	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	381	cd05107	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	379	cd05105	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	363	cd05104	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd06647	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd06917	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05631	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05605	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	294	cd08216	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05632	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd06628	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05612	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	392	cd05573	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1146	COG0515	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd06616	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd06615	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd06617	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	321	cd06623	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd08229	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd08224	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	510	cd05581	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd08228	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	319	cd06605	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd06621	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd06622	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd07847	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd06610	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd07846	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd07837	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd06658	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	333	cd07866	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd07864	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd07844	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd07871	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05071	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05089	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	328	cd07849	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05061	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05056	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd05052	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05067	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	235	cd05082	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05070	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05073	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	233	cd05083	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05072	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05034	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05068	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05069	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd05039	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd05148	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	306	cd05032	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd05036	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05062	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	cd06614	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd07831	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	351	cd07833	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1189	smart00220	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd06618	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06635	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	301	cd05057	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd06645	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05111	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	368	cd05054	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	319	cd05103	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	317	cd05102	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd06624	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05053	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05109	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd05033	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05066	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd06611	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05114	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05059	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd05043	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	238	cd05113	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	237	cd05112	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06643	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	298	cd07852	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05110	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05088	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	308	cd05038	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05081	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05079	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05065	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	361	cd05106	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd06613	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06651	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd06625	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd06652	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd06612	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd06653	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd06648	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05076	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05099	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd06644	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05116	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd05060	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05086	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05042	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05087	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05593	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05570	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd05590	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05592	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05591	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06632	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd05077	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05037	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	502	cd00192	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd05078	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05058	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd06630	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05044	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	234	cd05041	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05040	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	231	cd05085	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	232	cd05084	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05619	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05063	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	307	cd06620	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	332	cd05051	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd06646	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05049	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd06656	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd06655	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05091	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05050	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05090	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05064	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05048	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	315	cd07845	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd05097	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd05095	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	325	cd05046	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	321	cd05094	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd06637	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05093	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	313	cd05096	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd05092	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05577	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd06631	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	885	cd05123	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05047	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	839	cd00180	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd08221	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	804	cd05579	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	317	cd05572	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd06659	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd06619	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd05101	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd06654	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	320	cd07843	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	371	cd07840	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd06626	4557377,NP_000052
695	547759	Disease	p.Cys633Tyr	VAR_006276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006276	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd08220	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	298	cd06608	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd06642	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd07870	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd06641	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd06640	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	342	cd07865	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd07873	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd05100	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd07872	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd06638	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06634	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd06607	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	386	cd05055	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd05098	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05115	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05080	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	384	cd07830	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05035	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	300	cd05589	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd07835	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05108	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	335	cd07829	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05074	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05075	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	690	smart00219	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	457	pfam00069	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	472	pfam07714	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1071	smart00221	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd06629	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd05118	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd05616	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd05583	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	315	cd07857	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd07836	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd05587	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	325	cd07841	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd07861	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	435	cd07842	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd08530	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd08219	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	cd06627	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	418	cd06606	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	342	cd05122	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd08222	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd08218	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd08529	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	473	cd07834	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05045	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd07839	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd08528	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	317	cd08217	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05578	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd07860	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd08225	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	326	cd08215	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd08223	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	389	cd05107	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	387	cd05105	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	371	cd05104	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06647	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd06917	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05631	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05605	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	302	cd08216	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05632	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06628	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05612	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	463	cd05573	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1173	COG0515	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd06616	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	293	cd06615	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd06617	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	329	cd06623	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd08229	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd08224	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	518	cd05581	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd08228	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	329	cd06605	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd06621	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd06622	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	292	cd07847	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd06610	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	295	cd07846	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	cd07837	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06658	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	341	cd07866	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd07864	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd07844	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd07871	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05071	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05089	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	335_G	cd07849	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05061	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd05056	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05052	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05067	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd05082	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05070	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05073	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd05083	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05072	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd05034	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05068	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05069	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05039	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd05148	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	314	cd05032	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05036	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05062	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd06614	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd07831	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	359	cd07833	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1197	smart00220	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd06618	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd06635	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	309	cd05057	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd06645	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05111	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	376	cd05054	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	327	cd05103	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	325	cd05102	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd06624	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	297	cd05053	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05109	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05033	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05066	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd06611	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05114	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05059	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	cd05043	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05113	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05112	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd06643	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	327_G	cd07852	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05110	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05088	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	316	cd05038	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05081	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05079	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05065	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	369	cd05106	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd06613	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd06651	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd06625	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd06652	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd06612	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd06653	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd06648	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05076	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd05099	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06644	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05116	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05060	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05086	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05042	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05087	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05593	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd05570	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05590	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd05592	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05591	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd06632	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05077	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd05037	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	510	cd00192	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05078	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05058	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd06630	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05044	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05041	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05040	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05085	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05084	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05619	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05063	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	315	cd06620	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	340	cd05051	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd06646	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd05049	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06656	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06655	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05091	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd05050	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05090	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05064	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05048	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	328	cd07845	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd05097	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	296	cd05095	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	333	cd05046	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	329	cd05094	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06637	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05093	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	321	cd05096	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05092	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05577	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd06631	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	912	cd05123	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05047	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	851	cd00180	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd08221	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	812	cd05579	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	325	cd05572	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd06659	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd06619	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd05101	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd06654	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	328	cd07843	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	380	cd07840	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	296	cd06626	4557377,NP_000052
695	547759	Disease	p.Arg641Cys	VAR_006277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006277	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd08220	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	298	cd06608	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd06642	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd07870	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd06641	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd06640	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	342	cd07865	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd07873	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd05100	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd07872	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd06638	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06634	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd06607	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	386	cd05055	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd05098	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05115	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05080	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	384	cd07830	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05035	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	300	cd05589	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd07835	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05108	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	335	cd07829	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05074	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05075	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	690	smart00219	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	457	pfam00069	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	472	pfam07714	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1071	smart00221	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd06629	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd05118	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd05616	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd05583	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	315	cd07857	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd07836	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd05587	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	325	cd07841	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd07861	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	435	cd07842	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd08530	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd08219	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	cd06627	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	418	cd06606	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	342	cd05122	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd08222	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd08218	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd08529	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	473	cd07834	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05045	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd07839	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd08528	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	317	cd08217	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05578	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd07860	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd08225	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	326	cd08215	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd08223	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	389	cd05107	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	387	cd05105	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	371	cd05104	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06647	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd06917	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05631	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05605	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	302	cd08216	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05632	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06628	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05612	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	463	cd05573	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1173	COG0515	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd06616	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	293	cd06615	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd06617	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	329	cd06623	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd08229	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd08224	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	518	cd05581	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd08228	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	329	cd06605	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd06621	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd06622	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	292	cd07847	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd06610	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	295	cd07846	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	cd07837	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06658	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	341	cd07866	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd07864	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd07844	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd07871	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05071	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05089	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	335_G	cd07849	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05061	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd05056	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05052	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05067	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd05082	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05070	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05073	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	241	cd05083	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05072	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd05034	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05068	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05069	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05039	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd05148	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	314	cd05032	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05036	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05062	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd06614	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd07831	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	359	cd07833	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1197	smart00220	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd06618	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd06635	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	309	cd05057	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd06645	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05111	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	376	cd05054	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	327	cd05103	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	325	cd05102	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd06624	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	297	cd05053	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05109	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05033	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05066	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd06611	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05114	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05059	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	cd05043	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05113	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05112	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd06643	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	327_G	cd07852	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05110	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05088	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	316	cd05038	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05081	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05079	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05065	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	369	cd05106	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd06613	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd06651	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd06625	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd06652	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd06612	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd06653	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd06648	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05076	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd05099	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06644	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05116	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05060	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05086	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05042	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05087	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05593	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd05570	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05590	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd05592	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05591	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd06632	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05077	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd05037	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	510	cd00192	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05078	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05058	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd06630	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05044	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05041	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05040	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	239	cd05085	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	240	cd05084	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05619	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05063	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	315	cd06620	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	340	cd05051	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd06646	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd05049	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06656	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06655	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05091	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd05050	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05090	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05064	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05048	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	328	cd07845	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd05097	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	296	cd05095	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	333	cd05046	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	329	cd05094	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06637	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05093	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	321	cd05096	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05092	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05577	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd06631	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	912	cd05123	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05047	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	851	cd00180	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd08221	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	812	cd05579	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	325	cd05572	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd06659	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd06619	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd05101	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd06654	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	328	cd07843	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	380	cd07840	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	296	cd06626	4557377,NP_000052
695	547759	Disease	p.Arg641His	VAR_006278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006278	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd08220	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	301	cd06608	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd06642	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd07870	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd06641	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd06640	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	345	cd07865	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd07873	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd05100	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd07872	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd06638	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06634	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd06607	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	389	cd05055	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05098	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05115	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05080	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	389	cd07830	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05035	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	303	cd05589	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd07835	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05108	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	338	cd07829	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05074	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05075	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	693	smart00219	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	465	pfam00069	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	475	pfam07714	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1074	smart00221	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd06629	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	302	cd05118	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	305	cd05616	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05583	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	326	cd07857	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd07836	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd05587	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	345	cd07841	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd07861	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd08530	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd08219	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	294	cd06627	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	421	cd06606	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	345	cd05122	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd08222	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd08218	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd08529	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	476	cd07834	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05045	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd07839	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd08528	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	320	cd08217	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd05578	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd07860	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd08225	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	329	cd08215	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd08223	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	392	cd05107	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	390	cd05105	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	374	cd05104	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06647	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd06917	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05631	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05605	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	305	cd08216	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05632	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06628	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05612	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	466	cd05573	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1176	COG0515	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd06616	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	296	cd06615	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd06617	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	332	cd06623	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd08229	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd08224	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	521	cd05581	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd08228	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	332	cd06605	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd06621	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd06622	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	295	cd07847	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd06610	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	298	cd07846	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	294	cd07837	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd06658	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd07864	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd07844	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd07871	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05071	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05089	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	338	cd07849	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05061	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd05056	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05052	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05067	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05082	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05070	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05073	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05083	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05072	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05034	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05068	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05069	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05039	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd05148	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	317	cd05032	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05036	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05062	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	302	cd06614	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	cd07831	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	362	cd07833	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1215	smart00220	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd06618	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd06635	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	312	cd05057	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd06645	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05111	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	379	cd05054	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	330	cd05103	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	328	cd05102	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd06624	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	300	cd05053	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05109	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	292	cd05033	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05066	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd06611	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05114	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05059	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	294	cd05043	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05113	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05112	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd06643	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	330	cd07852	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05110	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05088	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	319	cd05038	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05081	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05079	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05065	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	372	cd05106	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd06613	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd06651	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd06625	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd06652	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd06612	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06653	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd06648	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05076	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd05099	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06644	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05116	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05060	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05086	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05042	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05087	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05593	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05570	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd05590	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd05592	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd05591	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd06632	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05077	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd05037	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	513	cd00192	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05078	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05058	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd06630	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05044	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05041	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05040	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05085	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd05084	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	292	cd05619	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05063	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	318	cd06620	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	343	cd05051	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd06646	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd05049	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06656	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06655	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05091	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd05050	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05090	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05064	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05048	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	331	cd07845	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd05097	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd05095	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	336	cd05046	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	336	cd05094	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06637	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05093	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	324	cd05096	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05092	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05577	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd06631	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05047	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	854	cd00180	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd08221	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	815	cd05579	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	333	cd05572	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd06659	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd06619	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd05101	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd06654	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	393	cd07840	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd06626	4557377,NP_000052
695	547759	Disease	p.Phe644Leu	VAR_008335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008335	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd08220	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	301	cd06608	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd06642	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd07870	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd06641	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd06640	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	345	cd07865	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd07873	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd05100	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd07872	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd06638	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06634	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd06607	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	389	cd05055	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05098	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05115	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05080	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	389	cd07830	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05035	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	303	cd05589	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd07835	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05108	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	338	cd07829	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05074	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05075	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	693	smart00219	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	465	pfam00069	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	475	pfam07714	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1074	smart00221	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd06629	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	302	cd05118	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	305	cd05616	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05583	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	326	cd07857	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd07836	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd05587	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	345	cd07841	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd07861	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd08530	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd08219	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	294	cd06627	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	421	cd06606	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	345	cd05122	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd08222	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd08218	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd08529	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	476	cd07834	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05045	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd07839	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd08528	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	320	cd08217	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd05578	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd07860	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd08225	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	329	cd08215	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd08223	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	392	cd05107	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	390	cd05105	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	374	cd05104	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06647	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd06917	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05631	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05605	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	305	cd08216	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05632	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06628	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05612	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	466	cd05573	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1176	COG0515	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd06616	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	296	cd06615	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd06617	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	332	cd06623	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd08229	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd08224	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	521	cd05581	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd08228	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	332	cd06605	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd06621	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd06622	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	295	cd07847	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd06610	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	298	cd07846	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	294	cd07837	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd06658	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd07864	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd07844	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd07871	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05071	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05089	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	338	cd07849	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05061	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd05056	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05052	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05067	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05082	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05070	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05073	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	244	cd05083	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05072	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05034	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05068	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05069	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05039	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd05148	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	317	cd05032	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05036	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05062	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	302	cd06614	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	cd07831	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	362	cd07833	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1215	smart00220	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd06618	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd06635	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	312	cd05057	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd06645	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05111	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	379	cd05054	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	330	cd05103	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	328	cd05102	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd06624	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	300	cd05053	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05109	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	292	cd05033	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05066	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd06611	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05114	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05059	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	294	cd05043	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05113	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05112	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd06643	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	330	cd07852	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05110	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05088	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	319	cd05038	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05081	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05079	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05065	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	372	cd05106	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd06613	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd06651	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd06625	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd06652	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd06612	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06653	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd06648	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd05076	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd05099	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06644	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05116	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05060	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05086	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05042	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05087	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05593	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05570	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd05590	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd05592	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd05591	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd06632	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05077	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd05037	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	513	cd00192	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05078	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05058	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd06630	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05044	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05041	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05040	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	242	cd05085	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	243	cd05084	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	292	cd05619	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05063	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	318	cd06620	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	343	cd05051	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd06646	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd05049	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06656	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06655	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05091	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd05050	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05090	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd05064	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05048	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	331	cd07845	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd05097	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd05095	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	336	cd05046	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	336	cd05094	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06637	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd05093	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	324	cd05096	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05092	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05577	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd06631	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05047	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	854	cd00180	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd08221	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	815	cd05579	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	333	cd05572	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd06659	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd06619	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd05101	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd06654	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	393	cd07840	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd06626	4557377,NP_000052
695	547759	Disease	p.Phe644Ser	VAR_006279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006279	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd08220	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	304	cd06608	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd06642	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd07870	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd06641	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd06640	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	348	cd07865	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	292	cd07873	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd05100	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	292	cd07872	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd06638	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd06634	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd06607	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	392	cd05055	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	292	cd05098	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05115	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd05080	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	392	cd07830	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05035	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	306	cd05589	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	292	cd07835	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05108	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	341	cd07829	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05074	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd05075	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	696	smart00219	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	468	pfam00069	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	478	pfam07714	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1077	smart00221	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd06629	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	305	cd05118	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	308	cd05616	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	329	cd07857	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd07836	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd05587	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	348	cd07841	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd07861	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd08530	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd08219	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	297	cd06627	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	424	cd06606	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	349	cd05122	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd08222	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd08218	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd08529	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	479	cd07834	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd05045	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd07839	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd08528	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	323	cd08217	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd05578	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	278	cd07860	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd08225	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	332	cd08215	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd08223	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	395	cd05107	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	393	cd05105	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	377	cd05104	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd06647	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd06917	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05631	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05605	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	308	cd08216	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd05632	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd06628	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05612	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	469	cd05573	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1193	COG0515	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd06616	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd06615	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd06617	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	335	cd06623	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd08229	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd08224	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	541	cd05581	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd08228	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	335	cd06605	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd06621	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	278	cd06622	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	298	cd07847	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd06610	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	301	cd07846	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	297	cd07837	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	269	cd06658	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd07864	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	292	cd07844	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd07871	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05071	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05089	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	341	cd07849	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05061	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	290	cd05056	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05052	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd05067	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	249	cd05082	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05070	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05073	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	247	cd05083	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05072	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05034	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05068	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05069	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd05039	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05148	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	320	cd05032	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd05036	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05062	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	305	cd06614	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	294	cd07831	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	365	cd07833	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1234	smart00220	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd06618	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd06635	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	315	cd05057	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd06645	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05111	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	382	cd05054	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	333	cd05103	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	331	cd05102	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd06624	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	303	cd05053	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05109	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	295	cd05033	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05066	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd06611	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05114	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05059	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	297	cd05043	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05113	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05112	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd06643	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	337	cd07852	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05110	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd05088	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	322	cd05038	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05081	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05079	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05065	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	375	cd05106	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06613	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd06651	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd06625	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd06652	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd06612	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06653	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd06648	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05076	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd05099	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd06644	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05116	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05060	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05086	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05042	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05087	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	274	cd05593	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	294	cd05570	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd05590	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	316	cd05592	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	278	cd05591	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd06632	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	257	cd05077	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	290	cd05037	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	519	cd00192	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	255	cd05078	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05058	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd06630	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268_G	cd05044	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	248	cd05041	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05040	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	245	cd05085	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	246	cd05084	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	295	cd05619	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd05063	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	322	cd06620	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	349	cd05051	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd06646	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	290	cd05049	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd06656	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd06655	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05091	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd05050	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05090	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05064	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	278_G	cd05048	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	cd05097	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	302	cd05095	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	339	cd05046	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	339	cd05094	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd06637	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd05093	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	327	cd05096	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd05092	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd05577	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	261	cd06631	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd05047	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	867	cd00180	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd08221	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	826	cd05579	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	336	cd05572	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd06659	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd06619	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05101	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd06654	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	396	cd07840	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	302	cd06626	4557377,NP_000052
695	547759	Disease	p.Leu647Pro	VAR_006280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006280	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd08220	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd06642	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd07870	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd06641	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd06640	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	353	cd07865	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	297	cd07873	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	295	cd05100	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	297	cd07872	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd06638	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd06634	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	296	cd06607	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	397	cd05055	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	300	cd05098	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05115	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	278	cd05080	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	313	cd05589	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	297	cd07835	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	296	cd05108	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	346	cd07829	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05074	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd05075	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1082	smart00221	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd06629	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	320	cd05616	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	338	cd07857	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd07836	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	317	cd05587	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd07861	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	521	cd07834	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd05045	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd07839	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	278	cd08528	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	328	cd08217	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05578	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd07860	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd08225	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	337	cd08215	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	256	cd08223	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	400	cd05107	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	398	cd05105	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	382	cd05104	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd06647	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd06917	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd05631	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	cd05605	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	328	cd08216	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd05632	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd06628	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	288	cd05612	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	474	cd05573	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1241	COG0515	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd06616	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	305	cd06615	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	341	cd06623	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	262	cd08229	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd08224	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd08228	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	340	cd06605	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd06621	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	336	cd06622	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	303	cd07847	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	291	cd06610	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	306	cd07846	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	302	cd07837	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd06658	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	280	cd07864	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd07871	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05071	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05089	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	346	cd07849	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd05061	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	295	cd05056	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd05052	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd05067	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	254	cd05082	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05070	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05073	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	252	cd05083	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	259	cd05072	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd05034	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05068	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	258	cd05069	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05039	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	325	cd05032	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd05036	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05062	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	323	cd06614	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	1246	smart00220	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	292	cd06618	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd06635	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	320	cd05057	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	276	cd05111	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	387	cd05054	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	338	cd05103	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	336	cd05102	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd06624	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	311	cd05053	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05109	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	299	cd05033	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd05066	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	279	cd06611	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd06643	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	346	cd07852	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	290	cd05110	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	277	cd05088	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	327	cd05038	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd05081	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd05079	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	266	cd05065	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	380	cd05106	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	263	cd06651	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264_G	cd06625	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd06652	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd06653	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	284	cd06648	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	294	cd05099	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd06644	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05116	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	260	cd05060	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	306	cd05593	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	309	cd05570	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	282	cd05590	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	321	cd05592	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd05591	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05058	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	267	cd06630	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05044	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	253	cd05041	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	270	cd05040	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	250	cd05085	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	251	cd05084	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	300	cd05619	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05063	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	330	cd06620	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	295	cd05049	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	272	cd06656	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	286	cd06655	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd05091	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	289	cd05050	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	281	cd05090	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd05064	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	283	cd05048	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	296	cd05097	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	307	cd05095	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	344	cd05046	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	350	cd05094	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	271	cd06637	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd05093	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	332	cd05096	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	287	cd05092	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd05577	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	265	cd05047	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	268	cd08221	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	831	cd05579	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	343	cd05572	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	275	cd06659	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	285	cd06619	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	297	cd05101	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	273	cd06654	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	401	cd07840	4557377,NP_000052
695	547759	Disease	p.Leu652Pro	VAR_006281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006281	- X-linked agammaglobulinemia (XLA) [MIM:300755]	SWISS	264	cd08220	4557377,NP_000052
701	143811368	Disease	p.Arg36Gln	VAR_028921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028921	- Premature chromatid separation trait (PCS) [MIM:176430]	SWISS	No Domain	N/A	NULL
701	143811368	Disease	p.Arg550Gln	VAR_028923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028923	rs28989187 Mosaic variegated aneuploidy syndrome (MVA) [MIM:257300]	SWISS	No Domain	N/A	NULL
701	143811368	Disease	p.Arg814His	VAR_028924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028924	rs28989182 Mosaic variegated aneuploidy syndrome (MVA) [MIM:257300]	SWISS	No Domain	N/A	NULL
701	143811368	Disease	p.Leu844Phe	VAR_028925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028925	rs28989181 Mosaic variegated aneuploidy syndrome (MVA) [MIM:257300]	SWISS	No Domain	N/A	NULL
701	143811368	Disease	p.Ile909Thr	VAR_028926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028926	rs28989184 Mosaic variegated aneuploidy syndrome (MVA) [MIM:257300]	SWISS	No Domain	N/A	NULL
701	143811368	Disease	p.Gln921His	VAR_028927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028927	rs28989183 Mosaic variegated aneuploidy syndrome (MVA) [MIM:257300]	SWISS	No Domain	N/A	NULL
701	143811368	Disease	p.Leu1012Pro	VAR_028928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028928	rs28989185 Mosaic variegated aneuploidy syndrome (MVA) [MIM:257300]	SWISS	No Domain	N/A	NULL
29071	74751849	Disease	p.Glu152Lys	VAR_031911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031911	- Tn syndrome [MIM:300622]	SWISS	No Domain	N/A	58532584,NP_001011551|23097329,NP_689905
713	298286922	Disease	p.Gly42Asp	VAR_008541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008541	- Complement component C1qB deficiency (C1QBD) [MIM:120570]	SWISS	No Domain	N/A	87298828,NP_000482
114902	20177861	Disease	p.Ser163Arg	VAR_032629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032629	- Late-onset retinal degeneration (LORD) [MIM:605670]	SWISS	73	smart00110	14149712,NP_056460
114902	20177861	Disease	p.Ser163Arg	VAR_032629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032629	- Late-onset retinal degeneration (LORD) [MIM:605670]	SWISS	72	pfam00386	14149712,NP_056460
717	3915642	Disease	p.Cys131Tyr	VAR_008544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008544	- Complement component 2 deficiency (C2D) [MIM:217000]	SWISS	73	cd00033	14550407,NP_000054
717	3915642	Disease	p.Cys131Tyr	VAR_008544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008544	- Complement component 2 deficiency (C2D) [MIM:217000]	SWISS	72	pfam00084	14550407,NP_000054
717	3915642	Disease	p.Cys131Tyr	VAR_008544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008544	- Complement component 2 deficiency (C2D) [MIM:217000]	SWISS	87	smart00032	14550407,NP_000054
717	3915642	Disease	p.Ser209Phe	VAR_008545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008545	rs28934590 Complement component 2 deficiency (C2D) [MIM:217000]	SWISS	No Domain	N/A	14550407,NP_000054
717	3915642	Disease	p.Gly464Arg	VAR_008546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008546	- Complement component 2 deficiency (C2D) [MIM:217000]	SWISS	4	smart00020	14550407,NP_000054
79133	74762247	Disease	p.Leu229Pro	VAR_054119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054119	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	502	COG0500	40018642,NP_077025
388939	182702267	Disease	p.Ile201Phe	VAR_063395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063395	- Retinitis pigmentosa type 54 (RP54) [MIM:613428]	SWISS	No Domain	N/A	71274152,NP_001025054
718	119370332	Disease	p.Asp549Asn	VAR_001985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001985	- Complement component 3 deficiency (C3D) [MIM:120700]	SWISS	332	pfam07703	115298678,NP_000055
718	119370332	Disease	p.Arg592Gln	VAR_063213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063213	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	429	pfam07703	115298678,NP_000055
718	119370332	Disease	p.Arg592Trp	VAR_063214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063214	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	429	pfam07703	115298678,NP_000055
718	119370332	Disease	p.Phe603Val	VAR_063654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063654	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	445	pfam07703	115298678,NP_000055
718	119370332	Disease	p.Arg735Trp	VAR_063215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063215	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	71	cd00017	115298678,NP_000055
718	119370332	Disease	p.Arg1042Leu	VAR_063655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063655	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	727	cd00688	115298678,NP_000055
718	119370332	Disease	p.Arg1042Leu	VAR_063655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063655	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	50	cd02896	115298678,NP_000055
718	119370332	Disease	p.Arg1042Leu	VAR_063655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063655	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	67	cd02891	115298678,NP_000055
718	119370332	Disease	p.Arg1042Leu	VAR_063655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063655	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	46_G	cd02897	115298678,NP_000055
718	119370332	Disease	p.Ala1094Val	VAR_063216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063216	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	72	pfam07678	115298678,NP_000055
718	119370332	Disease	p.Ala1094Val	VAR_063216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063216	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	872	cd00688	115298678,NP_000055
718	119370332	Disease	p.Ala1094Val	VAR_063216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063216	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	120	cd02896	115298678,NP_000055
718	119370332	Disease	p.Ala1094Val	VAR_063216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063216	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	151	cd02891	115298678,NP_000055
718	119370332	Disease	p.Ala1094Val	VAR_063216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063216	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	108	cd02897	115298678,NP_000055
718	119370332	Disease	p.Asp1115Asn	VAR_063217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063217	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	93	pfam07678	115298678,NP_000055
718	119370332	Disease	p.Asp1115Asn	VAR_063217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063217	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	920	cd00688	115298678,NP_000055
718	119370332	Disease	p.Asp1115Asn	VAR_063217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063217	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	141	cd02896	115298678,NP_000055
718	119370332	Disease	p.Asp1115Asn	VAR_063217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063217	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	181	cd02891	115298678,NP_000055
718	119370332	Disease	p.Asp1115Asn	VAR_063217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063217	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	130	cd02897	115298678,NP_000055
718	119370332	Disease	p.Cys1158Trp	VAR_063218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063218	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	144	pfam07678	115298678,NP_000055
718	119370332	Disease	p.Cys1158Trp	VAR_063218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063218	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	973	cd00688	115298678,NP_000055
718	119370332	Disease	p.Cys1158Trp	VAR_063218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063218	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	187	cd02896	115298678,NP_000055
718	119370332	Disease	p.Cys1158Trp	VAR_063218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063218	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	233	cd02891	115298678,NP_000055
718	119370332	Disease	p.Cys1158Trp	VAR_063218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063218	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	169_G	cd02897	115298678,NP_000055
718	119370332	Disease	p.Gln1161Lys	VAR_063219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063219	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	152	pfam07678	115298678,NP_000055
718	119370332	Disease	p.Gln1161Lys	VAR_063219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063219	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	976	cd00688	115298678,NP_000055
718	119370332	Disease	p.Gln1161Lys	VAR_063219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063219	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	190	cd02896	115298678,NP_000055
718	119370332	Disease	p.Gln1161Lys	VAR_063219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063219	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	236	cd02891	115298678,NP_000055
718	119370332	Disease	p.Gln1161Lys	VAR_063219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063219	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	170	cd02897	115298678,NP_000055
718	119370332	Disease	p.Arg1320Gln	VAR_001986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001986	- Complement component 3 deficiency (C3D) [MIM:120700]	SWISS	No Domain	N/A	115298678,NP_000055
718	119370332	Disease	p.His1464Asp	VAR_063220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063220	- Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]	SWISS	85	pfam07677	115298678,NP_000055
730	61252057	Disease	p.Arg220Gln	VAR_012643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012643	- Complement component 7 deficiency (C7D) [MIM:610102]	SWISS	No Domain	N/A	45580688,NP_000578
730	61252057	Disease	p.Gly379Arg	VAR_012644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012644	- Complement component 7 deficiency (C7D) [MIM:610102]	SWISS	199	smart00457	45580688,NP_000578
730	61252057	Disease	p.Gly379Arg	VAR_012644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012644	- Complement component 7 deficiency (C7D) [MIM:610102]	SWISS	272	pfam01823	45580688,NP_000578
730	61252057	Disease	p.Arg521Ser	VAR_012645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012645	- Complement component 7 deficiency (C7D) [MIM:610102]	SWISS	34	smart00209	45580688,NP_000578
730	61252057	Disease	p.Glu682Gln	VAR_012646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012646	- Complement component 7 deficiency (C7D) [MIM:610102]	SWISS	108	smart00032	45580688,NP_000578
730	61252057	Disease	p.Glu682Gln	VAR_012646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012646	- Complement component 7 deficiency (C7D) [MIM:610102]	SWISS	87	cd00033	45580688,NP_000578
730	61252057	Disease	p.Arg687His	VAR_012647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012647	- Complement component 7 deficiency (C7D) [MIM:610102]	SWISS	116	smart00032	45580688,NP_000578
730	61252057	Disease	p.Arg687His	VAR_012647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012647	- Complement component 7 deficiency (C7D) [MIM:610102]	SWISS	100	cd00033	45580688,NP_000578
79783	71152390	Disease	p.Arg336Trp	VAR_054852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054852	- Glutaric aciduria type 3 (GA3) [MIM:231690]	SWISS	368	COG1804	300863128,NP_001180242
137682	182676420	Disease	p.Gln99Arg	VAR_047770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047770	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	43	cd00683	124517691,NP_689629
137682	182676420	Disease	p.Gln99Arg	VAR_047770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047770	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	52	COG1562	124517691,NP_689629
137682	182676420	Disease	p.Gln99Arg	VAR_047770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047770	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	38	pfam00494	124517691,NP_689629
735	1352108	Disease	p.Cys119Gly	VAR_012648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012648	- Complement component 9 deficiency (C9D) [MIM:120940]	SWISS	35	pfam00057	4502511,NP_001728
735	1352108	Disease	p.Cys119Gly	VAR_012648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012648	- Complement component 9 deficiency (C9D) [MIM:120940]	SWISS	48	cd00112	4502511,NP_001728
735	1352108	Disease	p.Cys119Gly	VAR_012648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012648	- Complement component 9 deficiency (C9D) [MIM:120940]	SWISS	39	smart00192	4502511,NP_001728
760	115456	Disease	p.Gln92Pro	VAR_001381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001381	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	68	cd03149	4557395,NP_000058
760	115456	Disease	p.Gln92Pro	VAR_001381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001381	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	68	cd03118	4557395,NP_000058
760	115456	Disease	p.Gln92Pro	VAR_001381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001381	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	171	cd00326	4557395,NP_000058
760	115456	Disease	p.Gln92Pro	VAR_001381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001381	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	84	cd03117	4557395,NP_000058
760	115456	Disease	p.Gln92Pro	VAR_001381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001381	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	92	cd03119	4557395,NP_000058
760	115456	Disease	p.Gln92Pro	VAR_001381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001381	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	140	COG3338	4557395,NP_000058
760	115456	Disease	p.Gln92Pro	VAR_001381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001381	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	79	pfam00194	4557395,NP_000058
760	115456	Disease	p.Gln92Pro	VAR_001381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001381	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	80	cd03123	4557395,NP_000058
760	115456	Disease	p.Gln92Pro	VAR_001381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001381	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	81	cd03120	4557395,NP_000058
760	115456	Disease	p.Gln92Pro	VAR_001381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001381	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	79	cd03126	4557395,NP_000058
760	115456	Disease	p.Gln92Pro	VAR_001381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001381	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	80	cd03150	4557395,NP_000058
760	115456	Disease	p.Gln92Pro	VAR_001381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001381	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	80	cd03125	4557395,NP_000058
760	115456	Disease	p.Gln92Pro	VAR_001381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001381	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	155	cd03121	4557395,NP_000058
760	115456	Disease	p.Gln92Pro	VAR_001381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001381	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	123	cd03122	4557395,NP_000058
760	115456	Disease	p.Gln92Pro	VAR_001381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001381	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	144	cd03124	4557395,NP_000058
760	115456	Disease	p.His94Tyr	VAR_021009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021009	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	70	cd03149	4557395,NP_000058
760	115456	Disease	p.His94Tyr	VAR_021009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021009	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	70	cd03118	4557395,NP_000058
760	115456	Disease	p.His94Tyr	VAR_021009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021009	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	173	cd00326	4557395,NP_000058
760	115456	Disease	p.His94Tyr	VAR_021009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021009	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	86	cd03117	4557395,NP_000058
760	115456	Disease	p.His94Tyr	VAR_021009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021009	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	94	cd03119	4557395,NP_000058
760	115456	Disease	p.His94Tyr	VAR_021009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021009	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	142	COG3338	4557395,NP_000058
760	115456	Disease	p.His94Tyr	VAR_021009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021009	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	81	pfam00194	4557395,NP_000058
760	115456	Disease	p.His94Tyr	VAR_021009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021009	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	82	cd03123	4557395,NP_000058
760	115456	Disease	p.His94Tyr	VAR_021009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021009	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	83	cd03120	4557395,NP_000058
760	115456	Disease	p.His94Tyr	VAR_021009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021009	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	81	cd03126	4557395,NP_000058
760	115456	Disease	p.His94Tyr	VAR_021009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021009	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	82	cd03150	4557395,NP_000058
760	115456	Disease	p.His94Tyr	VAR_021009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021009	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	82	cd03125	4557395,NP_000058
760	115456	Disease	p.His94Tyr	VAR_021009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021009	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	157	cd03121	4557395,NP_000058
760	115456	Disease	p.His94Tyr	VAR_021009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021009	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	125	cd03122	4557395,NP_000058
760	115456	Disease	p.His94Tyr	VAR_021009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021009	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	146	cd03124	4557395,NP_000058
760	115456	Disease	p.His107Tyr	VAR_001382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001382	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	83	cd03149	4557395,NP_000058
760	115456	Disease	p.His107Tyr	VAR_001382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001382	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	83	cd03118	4557395,NP_000058
760	115456	Disease	p.His107Tyr	VAR_001382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001382	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	190	cd00326	4557395,NP_000058
760	115456	Disease	p.His107Tyr	VAR_001382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001382	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	103	cd03117	4557395,NP_000058
760	115456	Disease	p.His107Tyr	VAR_001382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001382	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	107	cd03119	4557395,NP_000058
760	115456	Disease	p.His107Tyr	VAR_001382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001382	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	149	COG3338	4557395,NP_000058
760	115456	Disease	p.His107Tyr	VAR_001382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001382	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	96	pfam00194	4557395,NP_000058
760	115456	Disease	p.His107Tyr	VAR_001382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001382	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	97	cd03123	4557395,NP_000058
760	115456	Disease	p.His107Tyr	VAR_001382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001382	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	96	cd03120	4557395,NP_000058
760	115456	Disease	p.His107Tyr	VAR_001382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001382	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	95	cd03126	4557395,NP_000058
760	115456	Disease	p.His107Tyr	VAR_001382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001382	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	95	cd03150	4557395,NP_000058
760	115456	Disease	p.His107Tyr	VAR_001382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001382	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	97	cd03125	4557395,NP_000058
760	115456	Disease	p.His107Tyr	VAR_001382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001382	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	172	cd03121	4557395,NP_000058
760	115456	Disease	p.His107Tyr	VAR_001382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001382	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	140	cd03122	4557395,NP_000058
760	115456	Disease	p.His107Tyr	VAR_001382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001382	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	159	cd03124	4557395,NP_000058
760	115456	Disease	p.Gly144Arg	VAR_021010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021010	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	121	cd03149	4557395,NP_000058
760	115456	Disease	p.Gly144Arg	VAR_021010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021010	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	121	cd03118	4557395,NP_000058
760	115456	Disease	p.Gly144Arg	VAR_021010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021010	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	236	cd00326	4557395,NP_000058
760	115456	Disease	p.Gly144Arg	VAR_021010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021010	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	143	cd03117	4557395,NP_000058
760	115456	Disease	p.Gly144Arg	VAR_021010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021010	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	145	cd03119	4557395,NP_000058
760	115456	Disease	p.Gly144Arg	VAR_021010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021010	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	176	COG3338	4557395,NP_000058
760	115456	Disease	p.Gly144Arg	VAR_021010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021010	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	135	pfam00194	4557395,NP_000058
760	115456	Disease	p.Gly144Arg	VAR_021010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021010	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	135	cd03123	4557395,NP_000058
760	115456	Disease	p.Gly144Arg	VAR_021010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021010	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	134	cd03120	4557395,NP_000058
760	115456	Disease	p.Gly144Arg	VAR_021010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021010	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	133	cd03126	4557395,NP_000058
760	115456	Disease	p.Gly144Arg	VAR_021010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021010	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	132	cd03150	4557395,NP_000058
760	115456	Disease	p.Gly144Arg	VAR_021010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021010	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	135	cd03125	4557395,NP_000058
760	115456	Disease	p.Gly144Arg	VAR_021010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021010	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	210	cd03121	4557395,NP_000058
760	115456	Disease	p.Gly144Arg	VAR_021010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021010	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	180	cd03122	4557395,NP_000058
760	115456	Disease	p.Gly144Arg	VAR_021010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021010	- Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]	SWISS	205	cd03124	4557395,NP_000058
762	115465	Disease	p.Arg14Trp	VAR_024749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024749	- Retinitis pigmentosa type 17 (RP17) [MIM:600852]	SWISS	19	COG3338	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	VAR_024750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024750	- Retinitis pigmentosa type 17 (RP17) [MIM:600852]	SWISS	185	cd03120	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	VAR_024750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024750	- Retinitis pigmentosa type 17 (RP17) [MIM:600852]	SWISS	258	cd03125	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	VAR_024750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024750	- Retinitis pigmentosa type 17 (RP17) [MIM:600852]	SWISS	258	cd03123	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	VAR_024750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024750	- Retinitis pigmentosa type 17 (RP17) [MIM:600852]	SWISS	188	pfam00194	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	VAR_024750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024750	- Retinitis pigmentosa type 17 (RP17) [MIM:600852]	SWISS	183	cd03126	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	VAR_024750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024750	- Retinitis pigmentosa type 17 (RP17) [MIM:600852]	SWISS	214	cd03117	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	VAR_024750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024750	- Retinitis pigmentosa type 17 (RP17) [MIM:600852]	SWISS	561	cd00326	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	VAR_024750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024750	- Retinitis pigmentosa type 17 (RP17) [MIM:600852]	SWISS	289	cd03121	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	VAR_024750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024750	- Retinitis pigmentosa type 17 (RP17) [MIM:600852]	SWISS	515	cd03124	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	VAR_024750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024750	- Retinitis pigmentosa type 17 (RP17) [MIM:600852]	SWISS	232	cd03122	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	VAR_024750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024750	- Retinitis pigmentosa type 17 (RP17) [MIM:600852]	SWISS	224	COG3338	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	VAR_024750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024750	- Retinitis pigmentosa type 17 (RP17) [MIM:600852]	SWISS	169	cd03149	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	VAR_024750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024750	- Retinitis pigmentosa type 17 (RP17) [MIM:600852]	SWISS	170	cd03118	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	VAR_024750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024750	- Retinitis pigmentosa type 17 (RP17) [MIM:600852]	SWISS	182	cd03150	4502519,NP_000708
762	115465	Disease	p.Arg219Ser	VAR_024750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024750	- Retinitis pigmentosa type 17 (RP17) [MIM:600852]	SWISS	194	cd03119	4502519,NP_000708
767	461681	Disease	p.Ser100Pro	VAR_063634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063634	- Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227]	SWISS	80	cd03119	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	VAR_063634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063634	- Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227]	SWISS	110	cd03124	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	VAR_063634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063634	- Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227]	SWISS	130	COG3338	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	VAR_063634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063634	- Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227]	SWISS	69	cd03123	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	VAR_063634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063634	- Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227]	SWISS	111	cd03122	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	VAR_063634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063634	- Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227]	SWISS	69	cd03150	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	VAR_063634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063634	- Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227]	SWISS	69	cd03125	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	VAR_063634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063634	- Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227]	SWISS	67	cd03120	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	VAR_063634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063634	- Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227]	SWISS	137	cd00326	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	VAR_063634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063634	- Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227]	SWISS	56	cd03149	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	VAR_063634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063634	- Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227]	SWISS	56	cd03118	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	VAR_063634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063634	- Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227]	SWISS	71	cd03117	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	VAR_063634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063634	- Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227]	SWISS	69	cd03126	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	VAR_063634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063634	- Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227]	SWISS	142	cd03121	22027500,NP_004047
767	461681	Disease	p.Ser100Pro	VAR_063634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063634	- Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227]	SWISS	65	pfam00194	22027500,NP_004047
56997	27923741	Disease	p.Arg213Trp	VAR_044402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044402	- Coenzyme Q10 deficiency (CoQ10 deficiency) [MIM:607426]	SWISS	17	COG0661	34147522,NP_064632
56997	27923741	Disease	p.Gly272Asp	VAR_044403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044403	- Coenzyme Q10 deficiency (CoQ10 deficiency) [MIM:607426]	SWISS	77	COG0661	34147522,NP_064632
56997	27923741	Disease	p.Gly272Val	VAR_044404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044404	- Coenzyme Q10 deficiency (CoQ10 deficiency) [MIM:607426]	SWISS	77	COG0661	34147522,NP_064632
56997	27923741	Disease	p.Tyr514Cys	VAR_044405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044405	- Spinocerebellar ataxia autosomal recessive type 9 (SCAR9) [MIM:612016]	SWISS	439	COG0661	34147522,NP_064632
56997	27923741	Disease	p.Gly549Ser	VAR_044406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044406	- Spinocerebellar ataxia autosomal recessive type 9 (SCAR9) [MIM:612016]	SWISS	475	COG0661	34147522,NP_064632
56997	27923741	Disease	p.Glu551Lys	VAR_044407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044407	- Coenzyme Q10 deficiency (CoQ10 deficiency) [MIM:607426]	SWISS	478	COG0661	34147522,NP_064632
57010	20178284	Disease	p.Arg124Cys	VAR_029375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029375	- Congenital stationary night blindness type 2B (CSNB2B) [MIM:610427]	SWISS	21	COG5126	21624641,NP_660201
773	6166047	Disease	p.Arg192Gln	VAR_001491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001491	- Familial hemiplegic migraine (FHM) [MIM:141500]	SWISS	130	pfam00520	NULL
773	6166047	Disease	p.Arg195Lys	VAR_043820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043820	- Familial hemiplegic migraine (FHM) [MIM:141500]	SWISS	133	pfam00520	NULL
773	6166047	Disease	p.Ser218Leu	VAR_043821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043821	- Familial hemiplegic migraine (FHM) [MIM:141500]	SWISS	168	pfam00520	NULL
773	6166047	Disease	p.Tyr248Cys	VAR_063683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063683	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	199	pfam00520	NULL
773	6166047	Disease	p.His253Tyr	VAR_043822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043822	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	204	pfam00520	NULL
773	6166047	Disease	p.Cys256Arg	VAR_043823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043823	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	207	pfam00520	NULL
773	6166047	Disease	p.Cys287Tyr	VAR_043824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043824	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	311	pfam00520	NULL
773	6166047	Disease	p.Gly293Arg	VAR_043825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043825	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	317	pfam00520	NULL
773	6166047	Disease	p.Gly293Arg	VAR_043825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043825	- Spinocerebellar ataxia type 6 (SCA6) [MIM:183086]	SWISS	317	pfam00520	NULL
773	6166047	Disease	p.Leu389Phe	VAR_063684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063684	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	No Domain	N/A	NULL
773	6166047	Disease	p.Ala405Thr	VAR_063685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063685	- Spinocerebellar ataxia type 6 (SCA6) [MIM:183086]	SWISS	No Domain	N/A	NULL
773	6166047	Disease	p.Thr501Met	VAR_063687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063687	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	No Domain	N/A	NULL
773	6166047	Disease	p.Arg583Gln	VAR_043826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043826	- Familial hemiplegic migraine (FHM) [MIM:141500]	SWISS	130	pfam00520	NULL
773	6166047	Disease	p.Gly638Asp	VAR_063688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063688	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	201	pfam00520	NULL
773	6166047	Disease	p.Thr666Met	VAR_001492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001492	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	340	pfam00520	NULL
773	6166047	Disease	p.Thr666Met	VAR_001492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001492	- Familial hemiplegic migraine (FHM) [MIM:141500]	SWISS	340	pfam00520	NULL
773	6166047	Disease	p.Val714Ala	VAR_001493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001493	- Familial hemiplegic migraine (FHM) [MIM:141500]	SWISS	No Domain	N/A	NULL
773	6166047	Disease	p.Asp715Glu	VAR_043827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043827	- Familial hemiplegic migraine (FHM) [MIM:141500]	SWISS	No Domain	N/A	NULL
773	6166047	Disease	p.Met798Thr	VAR_063689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063689	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	No Domain	N/A	NULL
773	6166047	Disease	p.Pro897Arg	VAR_063690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063690	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	No Domain	N/A	NULL
773	6166047	Disease	p.Lys1335Glu	VAR_043829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043829	- Familial hemiplegic migraine (FHM) [MIM:141500]	SWISS	75	pfam00520	NULL
773	6166047	Disease	p.Arg1346Gln	VAR_043830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043830	- Familial hemiplegic migraine (FHM) [MIM:141500]	SWISS	133	pfam00520	NULL
773	6166047	Disease	p.Tyr1384Cys	VAR_043831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043831	- Familial hemiplegic migraine (FHM) [MIM:141500]	SWISS	184	pfam00520	NULL
773	6166047	Disease	p.Phe1403Cys	VAR_043832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043832	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	203	pfam00520	NULL
773	6166047	Disease	p.Val1456Leu	VAR_043833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043833	- Familial hemiplegic migraine (FHM) [MIM:141500]	SWISS	338	pfam00520	NULL
773	6166047	Disease	p.Gly1482Arg	VAR_043834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043834	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	379	pfam00520	NULL
773	6166047	Disease	p.Phe1490Ser	VAR_043835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043835	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	387	pfam00520	NULL
773	6166047	Disease	p.Val1493Ile	VAR_043836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043836	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	390	pfam00520	NULL
773	6166047	Disease	p.Arg1661His	VAR_043837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043837	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	130	pfam00520	NULL
773	6166047	Disease	p.Arg1664Gln	VAR_063691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063691	- Spinocerebellar ataxia type 6 (SCA6) [MIM:183086]	SWISS	133	pfam00520	NULL
773	6166047	Disease	p.Arg1667Trp	VAR_043838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043838	- Familial hemiplegic migraine (FHM) [MIM:141500]	SWISS	139	pfam00520	NULL
773	6166047	Disease	p.Arg1679Cys	VAR_063692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063692	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	158	pfam00520	NULL
773	6166047	Disease	p.Trp1683Arg	VAR_043839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043839	- Familial hemiplegic migraine (FHM) [MIM:141500]	SWISS	167	pfam00520	NULL
773	6166047	Disease	p.Val1695Ile	VAR_063706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063706	- Familial hemiplegic migraine (FHM) [MIM:141500]	SWISS	180	pfam00520	NULL
773	6166047	Disease	p.His1736Leu	VAR_043840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043840	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	322	pfam00520	NULL
773	6166047	Disease	p.Glu1756Lys	VAR_043841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043841	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	342	pfam00520	NULL
773	6166047	Disease	p.Ile1810Leu	VAR_001494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001494	- Familial hemiplegic migraine (FHM) [MIM:141500]	SWISS	No Domain	N/A	NULL
773	6166047	Disease	p.Cys1869Arg	VAR_063693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063693	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	No Domain	N/A	NULL
773	6166047	Disease	p.Arg2135Cys	VAR_043842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043842	- Episodic ataxia type 2 (EA2) [MIM:108500]	SWISS	No Domain	N/A	NULL
775	308153651	Disease	p.Ala39Val	VAR_044039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044039	- Brugada syndrome type 3 (BRS3) [MIM:611875]	SWISS	No Domain	N/A	193788720,NP_955630
775	308153651	Disease	p.Gly402Ser	VAR_026741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026741	- Timothy syndrome (TS) [MIM:601005]	SWISS	405	pfam00520	193788720,NP_955630
775	308153651	Disease	p.Gly406Arg	VAR_026742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026742	- Timothy syndrome (TS) [MIM:601005]	SWISS	No Domain	N/A	193788720,NP_955630
775	308153651	Disease	p.Gly490Arg	VAR_044040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044040	- Brugada syndrome type 3 (BRS3) [MIM:611875]	SWISS	No Domain	N/A	193788720,NP_955630
778	226693506	Disease	p.Cys74Arg	VAR_030808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030808	- Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	SWISS	No Domain	N/A	53832007,NP_005174
778	226693506	Disease	p.Gly150Arg	VAR_030809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030809	- Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	SWISS	22	pfam00520	53832007,NP_005174
778	226693506	Disease	p.Ser229Pro	VAR_030810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030810	- Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	SWISS	168	pfam00520	53832007,NP_005174
778	226693506	Disease	p.Gly261Arg	VAR_030811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030811	- Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	SWISS	201	pfam00520	53832007,NP_005174
778	226693506	Disease	p.Gly369Asp	VAR_001504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001504	- Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	SWISS	405	pfam00520	53832007,NP_005174
778	226693506	Disease	p.Arg519Gln	VAR_001505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001505	rs34162630 Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	SWISS	No Domain	N/A	53832007,NP_005174
778	226693506	Disease	p.Val635Ile	VAR_030812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030812	- Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	SWISS	146	pfam00520	53832007,NP_005174
778	226693506	Disease	p.Gly674Asp	VAR_030813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030813	- Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	SWISS	195	pfam00520	53832007,NP_005174
778	226693506	Disease	p.Phe753Cys	VAR_030814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030814	- Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	SWISS	403	pfam00520	53832007,NP_005174
778	226693506	Disease	p.Ile756Thr	VAR_030815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030815	- Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	SWISS	406	pfam00520	53832007,NP_005174
778	226693506	Disease	p.Leu860Pro	VAR_030816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030816	- Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	SWISS	No Domain	N/A	53832007,NP_005174
778	226693506	Disease	p.Ala928Asp	VAR_030817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030817	- Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	SWISS	23	pfam00520	53832007,NP_005174
778	226693506	Disease	p.Gly1018Arg	VAR_030818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030818	- Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	SWISS	195	pfam00520	53832007,NP_005174
778	226693506	Disease	p.Arg1060Trp	VAR_001506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001506	- Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	SWISS	316	pfam00520	53832007,NP_005174
778	226693506	Disease	p.Leu1079Pro	VAR_030819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030819	- Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	SWISS	335	pfam00520	53832007,NP_005174
778	226693506	Disease	p.Leu1375His	VAR_001507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001507	- Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	SWISS	334	pfam00520	53832007,NP_005174
778	226693506	Disease	p.Cys1499Arg	VAR_030820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030820	- Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	SWISS	No Domain	N/A	53832007,NP_005174
778	226693506	Disease	p.Pro1500Arg	VAR_030821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030821	- Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	SWISS	No Domain	N/A	53832007,NP_005174
778	226693506	Disease	p.Leu1508Pro	VAR_030822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030822	- Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]	SWISS	No Domain	N/A	53832007,NP_005174
8912	23503045	Disease	p.Phe161Leu	VAR_045935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045935	- Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]	SWISS	24	pfam00520	53832009,NP_066921
8912	23503045	Disease	p.Glu282Lys	VAR_045936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045936	- Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]	SWISS	229	pfam00520	53832009,NP_066921
8912	23503045	Disease	p.Cys456Ser	VAR_045938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045938	- Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]	SWISS	No Domain	N/A	53832009,NP_066921
8912	23503045	Disease	p.Gly499Ser	VAR_045939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045939	- Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]	SWISS	No Domain	N/A	53832009,NP_066921
8912	23503045	Disease	p.Pro648Leu	VAR_045941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045941	- Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]	SWISS	No Domain	N/A	53832009,NP_066921
8912	23503045	Disease	p.Arg744Gln	VAR_045944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045944	- Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]	SWISS	No Domain	N/A	53832009,NP_066921
8912	23503045	Disease	p.Ala748Val	VAR_045945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045945	- Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]	SWISS	No Domain	N/A	53832009,NP_066921
8912	23503045	Disease	p.Gly773Asp	VAR_045946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045946	- Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]	SWISS	No Domain	N/A	53832009,NP_066921
8912	23503045	Disease	p.Gly784Ser	VAR_045947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045947	- Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]	SWISS	No Domain	N/A	53832009,NP_066921
8912	23503045	Disease	p.Val831Met	VAR_045950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045950	- Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]	SWISS	5	pfam00520	53832009,NP_066921
8912	23503045	Disease	p.Gly848Ser	VAR_045951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045951	- Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]	SWISS	22	pfam00520	53832009,NP_066921
8912	23503045	Disease	p.Asp1463Asn	VAR_045952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045952	- Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]	SWISS	210	pfam00520	53832009,NP_066921
779	209572767	Disease	p.Arg528Gly	VAR_054953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054953	- Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400]	SWISS	130	pfam00520	110349767,NP_000060
779	209572767	Disease	p.Arg528His	VAR_001499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001499	- Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400]	SWISS	130	pfam00520	110349767,NP_000060
779	209572767	Disease	p.Arg900Ser	VAR_054954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054954	- Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400]	SWISS	139	pfam00520	110349767,NP_000060
779	209572767	Disease	p.Arg1086His	VAR_001500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001500	rs1800559 Malignant hyperthermia susceptibility type 5 (MHS5) [MIM:601887]	SWISS	No Domain	N/A	110349767,NP_000060
779	209572767	Disease	p.Arg1239Gly	VAR_001501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001501	rs28930069 Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400]	SWISS	133	pfam00520	110349767,NP_000060
779	209572767	Disease	p.Arg1239His	VAR_001502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001502	rs28930068 Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400]	SWISS	133	pfam00520	110349767,NP_000060
783	145559447	Disease	p.Ser535Leu	VAR_044041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044041	- Brugada syndrome type 4 (BRS4) [MIM:611876]	SWISS	No Domain	N/A	147898681,NP_963890
124583	66774052	Disease	p.Pro299Leu	VAR_062980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062980	- Desbuquois dysplasia (DBQD) [MIM:251450]	SWISS	212	pfam06079	20270339,NP_620148|229577440,NP_001153244|229577444,NP_001153245
124583	66774052	Disease	p.Arg300Cys	VAR_062981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062981	- Desbuquois dysplasia (DBQD) [MIM:251450]	SWISS	213	pfam06079	20270339,NP_620148|229577440,NP_001153244|229577444,NP_001153245
124583	66774052	Disease	p.Arg300His	VAR_062982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062982	- Desbuquois dysplasia (DBQD) [MIM:251450]	SWISS	213	pfam06079	20270339,NP_620148|229577440,NP_001153244|229577444,NP_001153245
825	1345664	Disease	p.Val4Ile	VAR_009548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009548	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	No Domain	N/A	4557405,NP_000061
825	1345664	Disease	p.Pro26Leu	VAR_009549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009549	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	No Domain	N/A	4557405,NP_000061
825	1345664	Disease	p.Asp77Asn	VAR_009550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009550	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	4	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Asp77Asn	VAR_009550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009550	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	15	cd00044	4557405,NP_000061
825	1345664	Disease	p.Asp77Asn	VAR_009550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009550	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	17	smart00230	4557405,NP_000061
825	1345664	Disease	p.Ser86Phe	VAR_009551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009551	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	13	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Ser86Phe	VAR_009551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009551	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	24	cd00044	4557405,NP_000061
825	1345664	Disease	p.Ser86Phe	VAR_009551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009551	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	29	smart00230	4557405,NP_000061
825	1345664	Disease	p.Arg118Gly	VAR_009554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009554	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	56	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Arg118Gly	VAR_009554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009554	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	130	cd00044	4557405,NP_000061
825	1345664	Disease	p.Arg118Gly	VAR_009554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009554	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	80	smart00230	4557405,NP_000061
825	1345664	Disease	p.Cys137Arg	VAR_009555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009555	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	79	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Cys137Arg	VAR_009555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009555	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	150	cd00044	4557405,NP_000061
825	1345664	Disease	p.Cys137Arg	VAR_009555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009555	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	100	smart00230	4557405,NP_000061
825	1345664	Disease	p.Ile162Leu	VAR_009556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009556	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	105	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Ile162Leu	VAR_009556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009556	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	193	cd00044	4557405,NP_000061
825	1345664	Disease	p.Ile162Leu	VAR_009556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009556	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	141	smart00230	4557405,NP_000061
825	1345664	Disease	p.Leu182Gln	VAR_001363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001363	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	125	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Leu182Gln	VAR_001363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001363	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	216	cd00044	4557405,NP_000061
825	1345664	Disease	p.Leu182Gln	VAR_001363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001363	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	161	smart00230	4557405,NP_000061
825	1345664	Disease	p.Pro183Leu	VAR_009557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009557	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	126	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Pro183Leu	VAR_009557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009557	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	217	cd00044	4557405,NP_000061
825	1345664	Disease	p.Pro183Leu	VAR_009557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009557	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	162	smart00230	4557405,NP_000061
825	1345664	Disease	p.Thr184Met	VAR_009558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009558	rs35889956 Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	127	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Thr184Met	VAR_009558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009558	rs35889956 Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	218	cd00044	4557405,NP_000061
825	1345664	Disease	p.Thr184Met	VAR_009558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009558	rs35889956 Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	163	smart00230	4557405,NP_000061
825	1345664	Disease	p.Leu189Pro	VAR_009559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009559	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	135	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Leu189Pro	VAR_009559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009559	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	226	cd00044	4557405,NP_000061
825	1345664	Disease	p.Leu189Pro	VAR_009559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009559	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	170	smart00230	4557405,NP_000061
825	1345664	Disease	p.Gly214Ser	VAR_009560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009560	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	160	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Gly214Ser	VAR_009560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009560	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	262	cd00044	4557405,NP_000061
825	1345664	Disease	p.Gly214Ser	VAR_009560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009560	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	195	smart00230	4557405,NP_000061
825	1345664	Disease	p.Ser215Pro	VAR_009561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009561	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	161	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Ser215Pro	VAR_009561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009561	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	263	cd00044	4557405,NP_000061
825	1345664	Disease	p.Ser215Pro	VAR_009561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009561	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	196	smart00230	4557405,NP_000061
825	1345664	Disease	p.Glu217Lys	VAR_009563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009563	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	163	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Glu217Lys	VAR_009563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009563	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	265	cd00044	4557405,NP_000061
825	1345664	Disease	p.Glu217Lys	VAR_009563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009563	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	198	smart00230	4557405,NP_000061
825	1345664	Disease	p.Gly222Arg	VAR_009564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009564	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	168	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Gly222Arg	VAR_009564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009564	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	284	cd00044	4557405,NP_000061
825	1345664	Disease	p.Gly222Arg	VAR_009564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009564	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	203	smart00230	4557405,NP_000061
825	1345664	Disease	p.Glu226Lys	VAR_009565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009565	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	172	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Glu226Lys	VAR_009565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009565	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	288	cd00044	4557405,NP_000061
825	1345664	Disease	p.Glu226Lys	VAR_009565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009565	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	207	smart00230	4557405,NP_000061
825	1345664	Disease	p.Thr232Ile	VAR_009566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009566	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	178	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Thr232Ile	VAR_009566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009566	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	294	cd00044	4557405,NP_000061
825	1345664	Disease	p.Thr232Ile	VAR_009566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009566	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	213	smart00230	4557405,NP_000061
825	1345664	Disease	p.Gly234Glu	VAR_001365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001365	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	180	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Gly234Glu	VAR_001365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001365	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	296	cd00044	4557405,NP_000061
825	1345664	Disease	p.Gly234Glu	VAR_001365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001365	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	215	smart00230	4557405,NP_000061
825	1345664	Disease	p.Pro319Leu	VAR_009569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009569	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	267	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Pro319Leu	VAR_009569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009569	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	365_G	cd00044	4557405,NP_000061
825	1345664	Disease	p.Pro319Leu	VAR_009569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009569	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	318	smart00230	4557405,NP_000061
825	1345664	Disease	p.His334Gln	VAR_009570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009570	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	283	pfam00648	4557405,NP_000061
825	1345664	Disease	p.His334Gln	VAR_009570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009570	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	377	cd00044	4557405,NP_000061
825	1345664	Disease	p.His334Gln	VAR_009570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009570	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	333	smart00230	4557405,NP_000061
825	1345664	Disease	p.Tyr336Asn	VAR_009571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009571	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	285	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Tyr336Asn	VAR_009571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009571	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	379	cd00044	4557405,NP_000061
825	1345664	Disease	p.Tyr336Asn	VAR_009571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009571	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	335	smart00230	4557405,NP_000061
825	1345664	Disease	p.Val354Gly	VAR_001366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001366	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	307	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Val354Gly	VAR_001366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001366	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	411	cd00044	4557405,NP_000061
825	1345664	Disease	p.Val354Gly	VAR_001366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001366	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	377	smart00230	4557405,NP_000061
825	1345664	Disease	p.Trp360Cys	VAR_009572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009572	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	313	pfam00648	4557405,NP_000061
825	1345664	Disease	p.Trp360Cys	VAR_009572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009572	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	417	cd00044	4557405,NP_000061
825	1345664	Disease	p.Trp360Cys	VAR_009572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009572	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	383	smart00230	4557405,NP_000061
825	1345664	Disease	p.Arg437Cys	VAR_009573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009573	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	13	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Arg437Cys	VAR_009573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009573	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	9	smart00720	4557405,NP_000061
825	1345664	Disease	p.Arg437Cys	VAR_009573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009573	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	11	cd00214	4557405,NP_000061
825	1345664	Disease	p.Arg440Trp	VAR_009574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009574	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	22	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Arg440Trp	VAR_009574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009574	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	13	smart00720	4557405,NP_000061
825	1345664	Disease	p.Arg440Trp	VAR_009574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009574	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	14	cd00214	4557405,NP_000061
825	1345664	Disease	p.Gly441Asp	VAR_009575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009575	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	23	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Gly441Asp	VAR_009575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009575	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	14	smart00720	4557405,NP_000061
825	1345664	Disease	p.Gly441Asp	VAR_009575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009575	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	15	cd00214	4557405,NP_000061
825	1345664	Disease	p.Gly445Arg	VAR_009576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009576	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	40	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Gly445Arg	VAR_009576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009576	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	26	smart00720	4557405,NP_000061
825	1345664	Disease	p.Gly445Arg	VAR_009576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009576	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	27	cd00214	4557405,NP_000061
825	1345664	Disease	p.Arg448Cys	VAR_009577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009577	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	43	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Arg448Cys	VAR_009577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009577	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	29	smart00720	4557405,NP_000061
825	1345664	Disease	p.Arg448Cys	VAR_009577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009577	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	30	cd00214	4557405,NP_000061
825	1345664	Disease	p.Arg448Gly	VAR_009578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009578	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	43	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Arg448Gly	VAR_009578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009578	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	29	smart00720	4557405,NP_000061
825	1345664	Disease	p.Arg448Gly	VAR_009578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009578	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	30	cd00214	4557405,NP_000061
825	1345664	Disease	p.Arg448His	VAR_009579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009579	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	43	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Arg448His	VAR_009579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009579	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	29	smart00720	4557405,NP_000061
825	1345664	Disease	p.Arg448His	VAR_009579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009579	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	30	cd00214	4557405,NP_000061
825	1345664	Disease	p.Ser479Gly	VAR_009580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009580	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	132	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Ser479Gly	VAR_009580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009580	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	97	smart00720	4557405,NP_000061
825	1345664	Disease	p.Ser479Gly	VAR_009580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009580	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	83	cd00214	4557405,NP_000061
825	1345664	Disease	p.Gln486Glu	VAR_009581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009581	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	149	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Gln486Glu	VAR_009581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009581	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	104	smart00720	4557405,NP_000061
825	1345664	Disease	p.Gln486Glu	VAR_009581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009581	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	90	cd00214	4557405,NP_000061
825	1345664	Disease	p.Arg489Gln	VAR_009582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009582	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	166	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Arg489Gln	VAR_009582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009582	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	107	smart00720	4557405,NP_000061
825	1345664	Disease	p.Arg489Gln	VAR_009582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009582	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	93	cd00214	4557405,NP_000061
825	1345664	Disease	p.Arg489Trp	VAR_009583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009583	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	166	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Arg489Trp	VAR_009583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009583	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	107	smart00720	4557405,NP_000061
825	1345664	Disease	p.Arg489Trp	VAR_009583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009583	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	93	cd00214	4557405,NP_000061
825	1345664	Disease	p.Arg490Gln	VAR_009584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009584	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	167	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Arg490Gln	VAR_009584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009584	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	108	smart00720	4557405,NP_000061
825	1345664	Disease	p.Arg490Gln	VAR_009584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009584	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	94	cd00214	4557405,NP_000061
825	1345664	Disease	p.Arg490Trp	VAR_001367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001367	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	167	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Arg490Trp	VAR_001367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001367	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	108	smart00720	4557405,NP_000061
825	1345664	Disease	p.Arg490Trp	VAR_001367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001367	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	94	cd00214	4557405,NP_000061
825	1345664	Disease	p.Arg493Trp	VAR_009585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009585	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	175	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Arg493Trp	VAR_009585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009585	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	111	smart00720	4557405,NP_000061
825	1345664	Disease	p.Arg493Trp	VAR_009585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009585	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	97	cd00214	4557405,NP_000061
825	1345664	Disease	p.Gly496Arg	VAR_009586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009586	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	188	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Gly496Arg	VAR_009586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009586	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	135	smart00720	4557405,NP_000061
825	1345664	Disease	p.Gly496Arg	VAR_009586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009586	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	121	cd00214	4557405,NP_000061
825	1345664	Disease	p.Ile502Thr	VAR_009587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009587	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	215	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Ile502Thr	VAR_009587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009587	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	142	smart00720	4557405,NP_000061
825	1345664	Disease	p.Ile502Thr	VAR_009587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009587	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	127	cd00214	4557405,NP_000061
825	1345664	Disease	p.Arg541Gln	VAR_009588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009588	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	292	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Arg541Gln	VAR_009588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009588	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	182	smart00720	4557405,NP_000061
825	1345664	Disease	p.Arg541Gln	VAR_009588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009588	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	167	cd00214	4557405,NP_000061
825	1345664	Disease	p.Gly567Trp	VAR_009589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009589	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	322	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Gly567Trp	VAR_009589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009589	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	211	smart00720	4557405,NP_000061
825	1345664	Disease	p.Gly567Trp	VAR_009589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009589	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	196	cd00214	4557405,NP_000061
825	1345664	Disease	p.Arg572Gln	VAR_001368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001368	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	328	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Arg572Gln	VAR_001368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001368	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	216	smart00720	4557405,NP_000061
825	1345664	Disease	p.Arg572Gln	VAR_001368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001368	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	201	cd00214	4557405,NP_000061
825	1345664	Disease	p.Arg572Trp	VAR_009590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009590	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	328	pfam01067	4557405,NP_000061
825	1345664	Disease	p.Arg572Trp	VAR_009590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009590	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	216	smart00720	4557405,NP_000061
825	1345664	Disease	p.Arg572Trp	VAR_009590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009590	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	201	cd00214	4557405,NP_000061
825	1345664	Disease	p.Ser606Leu	VAR_009591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009591	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	No Domain	N/A	4557405,NP_000061
825	1345664	Disease	p.Gln638Pro	VAR_009592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009592	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	No Domain	N/A	4557405,NP_000061
825	1345664	Disease	p.Arg698Pro	VAR_009593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009593	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	3	smart00054	4557405,NP_000061
825	1345664	Disease	p.Arg698Pro	VAR_009593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009593	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	3	pfam00036	4557405,NP_000061
825	1345664	Disease	p.Arg698Pro	VAR_009593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009593	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	3	cd00051	4557405,NP_000061
825	1345664	Disease	p.Ala702Val	VAR_009594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009594	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	7	smart00054	4557405,NP_000061
825	1345664	Disease	p.Ala702Val	VAR_009594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009594	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	7	pfam00036	4557405,NP_000061
825	1345664	Disease	p.Ala702Val	VAR_009594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009594	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	7	cd00051	4557405,NP_000061
825	1345664	Disease	p.Asp705Gly	VAR_009595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009595	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	10	smart00054	4557405,NP_000061
825	1345664	Disease	p.Asp705Gly	VAR_009595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009595	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	10	pfam00036	4557405,NP_000061
825	1345664	Disease	p.Asp705Gly	VAR_009595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009595	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	10	cd00051	4557405,NP_000061
825	1345664	Disease	p.Asp705His	VAR_009596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009596	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	10	smart00054	4557405,NP_000061
825	1345664	Disease	p.Asp705His	VAR_009596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009596	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	10	pfam00036	4557405,NP_000061
825	1345664	Disease	p.Asp705His	VAR_009596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009596	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	10	cd00051	4557405,NP_000061
825	1345664	Disease	p.Phe731Ser	VAR_009597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009597	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	6	pfam00036	4557405,NP_000061
825	1345664	Disease	p.Phe731Ser	VAR_009597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009597	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	6	smart00054	4557405,NP_000061
825	1345664	Disease	p.Phe731Ser	VAR_009597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009597	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	60	cd00051	4557405,NP_000061
825	1345664	Disease	p.Ser744Gly	VAR_001369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001369	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	19	pfam00036	4557405,NP_000061
825	1345664	Disease	p.Ser744Gly	VAR_001369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001369	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	19	smart00054	4557405,NP_000061
825	1345664	Disease	p.Ser744Gly	VAR_001369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001369	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	73	cd00051	4557405,NP_000061
825	1345664	Disease	p.Arg748Gln	VAR_009598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009598	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	23	pfam00036	4557405,NP_000061
825	1345664	Disease	p.Arg748Gln	VAR_009598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009598	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	23	smart00054	4557405,NP_000061
825	1345664	Disease	p.Arg748Gln	VAR_009598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009598	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	77	cd00051	4557405,NP_000061
825	1345664	Disease	p.Arg769Gln	VAR_001370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001370	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	No Domain	N/A	4557405,NP_000061
825	1345664	Disease	p.His774Asp	VAR_009599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009599	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	No Domain	N/A	4557405,NP_000061
825	1345664	Disease	p.Ala798Glu	VAR_009600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009600	- Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]	SWISS	No Domain	N/A	4557405,NP_000061
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd07868	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd07867	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	28	cd07856	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	25	cd05093	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	24	cd05071	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	24	cd05067	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	23	cd05090	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	24	cd05070	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	24	cd05068	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	22	cd05065	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	23	cd05097	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	31	cd05032	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	23	cd05095	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	22	cd05112	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	22	cd05113	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	12	cd05633	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	12	cd05606	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	25	cd07852	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	23	cd07854	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	39	cd07876	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	30	cd06644	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	38	cd06654	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	36	cd06638	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	34	cd06636	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	38	cd06614	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	43	cd06635	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	39	cd06633	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	34	cd07850	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	33	cd07879	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	40	cd06639	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	61	cd05596	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	33	cd06618	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	33	cd07851	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	40	cd06658	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	61	cd05622	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	38	cd06657	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	37_G	cd06659	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	23	cd06650	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	14	cd00180	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05072	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	11	cd05123	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	14	cd05611	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	11	cd05572	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	11	cd05607	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	11	cd05579	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	11	cd05585	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	11	cd05586	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	11	cd05608	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05115	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	11	cd05577	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd06629	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05085	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd06632	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05593	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05570	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05060	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05617	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05618	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05604	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05602	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05603	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05620	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05592	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05588	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05619	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05078	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd00192	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05575	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05571	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05595	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05116	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05041	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05084	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd06630	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05040	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05047	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05594	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05590	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	13	cd05591	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd06626	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	25	cd07864	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd07862	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd07848	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	24	cd06608	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	26	cd05581	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd06610	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd07847	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	23	cd07871	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd07846	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd07833	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	24	cd07843	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd07874	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd05609	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd05597	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd05624	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd05573	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	22	cd05114	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	22	cd05059	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	24	cd07873	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd06622	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd05580	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd05601	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	20	cd08224	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd07837	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd05612	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd05600	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	24	cd07872	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	20	cd06609	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd06917	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd05629	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd05627	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd05598	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd05599	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd06621	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	22	cd05574	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd08223	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd08215	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd08225	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd06627	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	25	cd06606	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd07863	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd08220	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd08530	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd07836	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd07839	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd07860	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	17	cd06631	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd08218	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd08219	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd07842	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	21	cd08221	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd06628	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd08217	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd05578	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd07841	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	21	cd08528	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd05631	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd05632	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd05615	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd07832	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	20	cd07834	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd05605	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd05630	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd07857	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd07853	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd05045	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	20	cd06651	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd07859	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	21	cd05613	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	25	cd05122	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	7	smart00220	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	10	cd05069	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd08227	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	20	cd08216	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	6	cd05073	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	24	cd05039	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	22_G	cd05082	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	25	cd07845	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	23	cd05049	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	36	cd05057	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	25	cd05109	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	24	cd05056	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	25	cd05108	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	25	cd05088	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	24	cd07858	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	25	cd05110	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	23	cd05038	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	22_G	cd05083	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	37	cd06648	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	33	cd06607	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	31_G	cd06634	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	37	cd06647	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	61	COG0515	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	23	cd07870	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	20	cd06653	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	23	cd07844	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	23	cd07869	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	22	cd06642	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	22	cd06641	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	22	cd06640	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	25	cd07875	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	20	cd06652	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd05628	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd06605	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	24	cd06623	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd06619	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd05623	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd06615	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	27	cd06645	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	22	cd06616	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	23	cd06643	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	23	cd06611	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	cd06617	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	21	pfam07714	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	17	smart00219	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	24	cd05034	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	20	cd06625	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd08222	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	17	cd07830	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	17	cd05118	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	20	cd08229	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	17	cd07835	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	17	smart00221	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	21	cd07840	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd07829	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	19	pfam00069	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd08529	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	17	cd07838	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd07861	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	17	cd07831	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	24	cd05148	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	20	cd08228	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	17	cd05589	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd05616	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	21	cd05583	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	17	cd05074	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd05035	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	18	cd05587	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	21	cd05614	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	17	cd05582	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	17	cd05584	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	40	cd07855	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	27	cd07866	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	26	cd06624	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	24	cd06637	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	21	cd06612	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	20	cd05089	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	22	cd05079	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	22	cd05081	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	23	cd07849	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	21	cd06613	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	23	cd05080	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	33	cd07880	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	33	cd07878	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	30	cd07865	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	33	cd05101	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	35	cd07877	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	61	cd05621	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	25	cd05111	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	37	cd06656	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	37	cd06655	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	23	cd06620	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	30	cd05099	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	23	cd05048	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	23	cd05092	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	25	cd05050	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	24	cd05036	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	25	cd05094	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	24	cd05061	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	23	cd06649	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	24	cd05062	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	27	cd06646	NULL
8573	145559462	Disease	p.Arg28Leu	VAR_058719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058719	- FG syndrome type 4 (FGS4) [MIM:300422]	SWISS	24	cd05052	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	280	smart00750	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	309	cd07868	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	309	cd07867	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	283	cd07856	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	270	cd05093	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	250	cd05071	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	259	cd05067	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	250	cd05070	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	256	cd05068	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	246_G	cd05065	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	288	cd05097	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	318	cd05032	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	282	cd05095	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	231	cd05112	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	250	cd05113	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	250	cd05633	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	247	cd05606	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	310	cd07852	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	318	cd07854	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	310	cd07876	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	264	cd06644	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	265	cd06654	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	278	cd06638	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	274	cd06636	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	303	cd06614	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	272	cd06635	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	268	cd06633	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	313	cd07850	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	303	cd07879	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	289	cd06639	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	300	cd05596	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	277	cd06618	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	318	cd07851	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	267	cd06658	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	299	cd05622	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	265	cd06657	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	266	cd06659	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	252	cd06650	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	865	cd00180	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	255	cd05072	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	923	cd05123	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	449	cd05611	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	334	cd05572	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	246	cd05607	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	819	cd05579	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	242	cd05585	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	248	cd05586	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	252	cd05608	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	240	cd05115	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	252	cd05577	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	270	cd06629	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	243	cd05085	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	275	cd06632	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	246	cd05593	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	253	cd05570	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	249	cd05617	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	250_G	cd05618	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	246	cd05604	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	246	cd05602	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	246	cd05603	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	266	cd05620	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	271	cd05592	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	251	cd05588	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	242	cd05619	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	256	cd05078	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	520	cd00192	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	243	cd05575	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	247	cd05571	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	246	cd05595	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	245	cd05116	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	249	cd05041	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	247	cd05084	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	260	cd06630	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	259	cd05047	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	247	cd05594	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	242	cd05590	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	242	cd05591	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	300	cd06626	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	298	cd07864	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	287	cd07862	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	308	cd07848	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	302	cd06608	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	538	cd05581	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	284	cd06610	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	296	cd07847	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	280	cd07871	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	299	cd07846	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	363	cd07833	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	332	cd07843	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	306	cd07874	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	280	cd05609	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	266	cd05597	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	269	cd05624	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	441	cd05573	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	249	cd05114	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	281	cd07873	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	276	cd06622	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	320	cd05580	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	266	cd05601	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	261	cd08224	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	294	cd07837	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	245	cd05612	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	332	cd05600	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	281	cd07872	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	287	cd06609	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	265	cd06917	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	309_G	cd05629	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	288	cd05627	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	319	cd05598	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	473	cd05599	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	270	cd06621	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	354	cd05574	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	249	cd08223	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	330	cd08215	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	249	cd08225	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	295	cd06627	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	422	cd06606	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	283	cd07863	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	257	cd08220	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	256	cd08530	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	287	cd07836	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	278	cd07839	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	276	cd07860	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	259	cd06631	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	248	cd08218	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	247	cd08219	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	430	cd07842	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	261	cd08221	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	264	cd06628	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	321	cd08217	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	281	cd05578	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	329	cd07841	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	274	cd08528	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	251	cd05631	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	251	cd05632	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	260	cd05615	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	306	cd07832	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	453	cd07834	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	251	cd05605	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	256	cd05630	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	297	cd07857	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	295	cd07853	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	277	cd05045	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	256	cd06651	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	290	cd07859	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	276	cd05613	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	347	cd05122	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	1222	smart00220	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	250	cd05069	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	260	cd08227	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	306	cd08216	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	258	cd05073	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	261	cd05039	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	250	cd05082	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	308	cd07845	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	295	cd05049	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	316	cd05057	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	259	cd05109	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	291	cd05056	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	259	cd05108	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	274	cd05088	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	292	cd07858	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	259	cd05110	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	302	cd05038	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	244	cd05083	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	266	cd06648	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	268	cd06607	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	264	cd06634	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	264	cd06647	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	1177	COG0515	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	287	cd07870	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	261	cd06653	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	289	cd07844	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	283	cd07869	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	248	cd06642	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	248	cd06641	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	248	cd06640	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	313	cd07875	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	280	cd06652	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	296	cd05628	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	333	cd06605	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	333	cd06623	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	278	cd06619	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	261	cd05623	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	297	cd06615	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	260	cd06645	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	274	cd06616	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	257	cd06643	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	259	cd06611	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	263	cd06617	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	482	pfam07714	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	701	smart00219	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	267	cd05034	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	258	cd06625	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	253	cd08222	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	389	cd07830	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	303	cd05118	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	259	cd08229	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	308	cd07835	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	1075	smart00221	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	412	cd07840	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	357	cd07829	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	466	pfam00069	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	257	cd08529	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	347	cd07838	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	285	cd07861	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	292	cd07831	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	269	cd05148	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	256	cd08228	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	252	cd05589	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	247	cd05616	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	259	cd05583	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	266	cd05074	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	277	cd05035	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	252	cd05587	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	257	cd05614	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	244	cd05582	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	255	cd05584	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	326	cd07855	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	345	cd07866	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	265	cd06624	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	264	cd06637	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	271	cd06612	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	266	cd05089	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	256	cd05079	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	256	cd05081	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	318	cd07849	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	261	cd06613	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	254	cd05080	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	293	cd07880	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	293	cd07878	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	346	cd07865	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	295	cd07877	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	299	cd05621	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	259	cd05111	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	264	cd06656	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	264	cd06655	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	319	cd06620	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	287	cd05099	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	274	cd05092	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	286	cd05050	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	275	cd05036	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	295	cd05094	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	270	cd05061	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	254	cd06649	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	269	cd05062	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	260	cd06646	NULL
8573	145559462	Disease	p.Tyr268His	VAR_062996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062996	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	256	cd05052	NULL
8573	145559462	Disease	p.Pro396Ser	VAR_062997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062997	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	94	smart00569	NULL
8573	145559462	Disease	p.Pro396Ser	VAR_062997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062997	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	55	pfam02828	NULL
8573	145559462	Disease	p.Pro396Ser	VAR_062997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062997	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	1366	COG0515	NULL
8573	145559462	Disease	p.Asp710Gly	VAR_062998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062998	- Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]	SWISS	No Domain	N/A	NULL
843	12644463	Disease	p.Leu285Phe	VAR_014071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014071	rs17860403 Autoimmune lymphoproliferative syndrome type 2A (ALPS2A) [MIM:603909]	SWISS	18	smart00115	47078269,NP_116756
843	12644463	Disease	p.Leu285Phe	VAR_014071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014071	rs17860403 Autoimmune lymphoproliferative syndrome type 2A (ALPS2A) [MIM:603909]	SWISS	14	cd00032	47078269,NP_116756
843	12644463	Disease	p.Leu285Phe	VAR_014071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014071	rs17860403 Autoimmune lymphoproliferative syndrome type 2A (ALPS2A) [MIM:603909]	SWISS	2	pfam00656	47078269,NP_116756
843	12644463	Disease	p.Ile406Leu	VAR_037429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037429	- Autoimmune lymphoproliferative syndrome type 2A (ALPS2A) [MIM:603909]	SWISS	196	smart00115	47078269,NP_116756
843	12644463	Disease	p.Ile406Leu	VAR_037429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037429	- Autoimmune lymphoproliferative syndrome type 2A (ALPS2A) [MIM:603909]	SWISS	175	cd00032	47078269,NP_116756
843	12644463	Disease	p.Ile406Leu	VAR_037429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037429	- Autoimmune lymphoproliferative syndrome type 2A (ALPS2A) [MIM:603909]	SWISS	328	pfam00656	47078269,NP_116756
841	2493531	Disease	p.Arg248Trp	VAR_014204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014204	rs17860424 Caspase-8 deficiency (CASP8D) [MIM:607271]	SWISS	27	cd00032	15718706,NP_203519
841	2493531	Disease	p.Arg248Trp	VAR_014204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014204	rs17860424 Caspase-8 deficiency (CASP8D) [MIM:607271]	SWISS	15	pfam00656	15718706,NP_203519
841	2493531	Disease	p.Arg248Trp	VAR_014204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014204	rs17860424 Caspase-8 deficiency (CASP8D) [MIM:607271]	SWISS	33	smart00115	15718706,NP_203519
845	23503043	Disease	p.Arg33Gln	VAR_055234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055234	- Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938]	SWISS	12	pfam01216	119395727,NP_001223
845	23503043	Disease	p.Arg33Gln	VAR_055234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055234	- Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938]	SWISS	10	cd03065	119395727,NP_001223
845	23503043	Disease	p.Leu167His	VAR_044118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044118	- Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938]	SWISS	146	pfam01216	119395727,NP_001223
845	23503043	Disease	p.Leu167His	VAR_044118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044118	- Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938]	SWISS	24	cd03066	119395727,NP_001223
845	23503043	Disease	p.Leu167His	VAR_044118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044118	- Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938]	SWISS	23	cd03068	119395727,NP_001223
845	23503043	Disease	p.Leu167His	VAR_044118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044118	- Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938]	SWISS	26	cd02981	119395727,NP_001223
845	23503043	Disease	p.Asp307His	VAR_016075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016075	- Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938]	SWISS	286	pfam01216	119395727,NP_001223
845	23503043	Disease	p.Asp307His	VAR_016075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016075	- Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938]	SWISS	68	cd02982	119395727,NP_001223
845	23503043	Disease	p.Asp307His	VAR_016075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016075	- Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938]	SWISS	63	cd03074	119395727,NP_001223
846	1168781	Disease	p.Leu11Ser	VAR_058046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058046	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	No Domain	N/A	37577159,NP_000379
846	1168781	Disease	p.Leu13Pro	VAR_058047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058047	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	No Domain	N/A	37577159,NP_000379
846	1168781	Disease	p.Pro39Ala	VAR_003585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003585	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	7	cd06361	37577159,NP_000379
846	1168781	Disease	p.Pro39Ala	VAR_003585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003585	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	7	cd06269	37577159,NP_000379
846	1168781	Disease	p.Pro39Ala	VAR_003585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003585	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	7	cd04509	37577159,NP_000379
846	1168781	Disease	p.Pro39Ala	VAR_003585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003585	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	7	cd06350	37577159,NP_000379
846	1168781	Disease	p.Pro39Ala	VAR_003585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003585	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	7	cd01391	37577159,NP_000379
846	1168781	Disease	p.Pro39Ala	VAR_003585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003585	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	17	cd06374	37577159,NP_000379
846	1168781	Disease	p.Pro39Ala	VAR_003585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003585	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	20	cd06364	37577159,NP_000379
846	1168781	Disease	p.Pro39Ala	VAR_003585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003585	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	10	cd06362	37577159,NP_000379
846	1168781	Disease	p.Pro39Ala	VAR_003585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003585	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	10	cd06376	37577159,NP_000379
846	1168781	Disease	p.Pro39Ala	VAR_003585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003585	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	10	cd06365	37577159,NP_000379
846	1168781	Disease	p.Pro39Ala	VAR_003585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003585	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	10	cd06375	37577159,NP_000379
846	1168781	Disease	p.Pro39Ala	VAR_003585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003585	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	14	cd06363	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	VAR_058050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058050	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	15	cd06361	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	VAR_058050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058050	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	15	cd06269	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	VAR_058050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058050	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	15	cd04509	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	VAR_058050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058050	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	15	cd06350	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	VAR_058050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058050	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	15	cd01391	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	VAR_058050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058050	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	25	cd06374	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	VAR_058050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058050	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	7	cd06352	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	VAR_058050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058050	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	28	cd06364	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	VAR_058050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058050	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	12_G	cd06362	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	VAR_058050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058050	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	14	cd06376	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	VAR_058050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058050	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	18	cd06365	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	VAR_058050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058050	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	14	cd06375	37577159,NP_000379
846	1168781	Disease	p.Lys47Asn	VAR_058050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058050	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	22	cd06363	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	33	cd06361	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	69	cd06269	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	32	cd04509	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	64	cd06350	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	32	cd01391	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	36	cd06374	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	11	cd06370	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	26	cd06352	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	43	cd06364	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	31	cd06362	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	25	cd06376	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	37	cd06365	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	29	cd06375	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	56	cd06363	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	33	cd06361	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	69	cd06269	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	32	cd04509	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	64	cd06350	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	32	cd01391	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	36	cd06374	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	11	cd06370	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	26	cd06352	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	43	cd06364	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	31	cd06362	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	25	cd06376	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	37	cd06365	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	29	cd06375	37577159,NP_000379
846	1168781	Disease	p.Arg62Met	VAR_003586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003586	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	56	cd06363	37577159,NP_000379
846	1168781	Disease	p.Arg66Cys	VAR_003587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003587	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	37	cd06361	37577159,NP_000379
846	1168781	Disease	p.Arg66Cys	VAR_003587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003587	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	73	cd06269	37577159,NP_000379
846	1168781	Disease	p.Arg66Cys	VAR_003587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003587	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	36	cd04509	37577159,NP_000379
846	1168781	Disease	p.Arg66Cys	VAR_003587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003587	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	68	cd06350	37577159,NP_000379
846	1168781	Disease	p.Arg66Cys	VAR_003587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003587	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	36	cd01391	37577159,NP_000379
846	1168781	Disease	p.Arg66Cys	VAR_003587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003587	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	39_G	cd06374	37577159,NP_000379
846	1168781	Disease	p.Arg66Cys	VAR_003587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003587	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	21	cd06370	37577159,NP_000379
846	1168781	Disease	p.Arg66Cys	VAR_003587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003587	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	30	cd06352	37577159,NP_000379
846	1168781	Disease	p.Arg66Cys	VAR_003587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003587	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	47	cd06364	37577159,NP_000379
846	1168781	Disease	p.Arg66Cys	VAR_003587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003587	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	34	cd06362	37577159,NP_000379
846	1168781	Disease	p.Arg66Cys	VAR_003587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003587	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	28	cd06376	37577159,NP_000379
846	1168781	Disease	p.Arg66Cys	VAR_003587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003587	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	41	cd06365	37577159,NP_000379
846	1168781	Disease	p.Arg66Cys	VAR_003587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003587	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	34	cd06375	37577159,NP_000379
846	1168781	Disease	p.Arg66Cys	VAR_003587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003587	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	62	cd06363	37577159,NP_000379
846	1168781	Disease	p.Arg66Cys	VAR_003587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003587	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	17	cd06366	37577159,NP_000379
846	1168781	Disease	p.Arg66Cys	VAR_003587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003587	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	33	cd06268	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	VAR_003588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003588	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	88	cd06361	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	VAR_003588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003588	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	181	cd06269	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	VAR_003588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003588	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	100	cd04509	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	VAR_003588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003588	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	129	cd06350	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	VAR_003588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003588	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	100	cd01391	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	VAR_003588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003588	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	71	cd06379	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	VAR_003588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003588	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	93	cd06374	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	VAR_003588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003588	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	70_G	cd06370	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	VAR_003588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003588	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	113	cd06352	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	VAR_003588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003588	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	97	cd06364	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	VAR_003588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003588	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	61	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	VAR_003588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003588	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	84_G	cd06362	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	VAR_003588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003588	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	77_G	cd06376	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	VAR_003588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003588	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	89_G	cd06365	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	VAR_003588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003588	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	89	cd06375	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	VAR_003588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003588	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	115	cd06363	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	VAR_003588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003588	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	78	cd06366	37577159,NP_000379
846	1168781	Disease	p.Ala116Thr	VAR_003588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003588	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	118	cd06268	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	VAR_058051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058051	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	90	cd06361	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	VAR_058051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058051	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	183	cd06269	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	VAR_058051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058051	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	102	cd04509	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	VAR_058051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058051	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	131	cd06350	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	VAR_058051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058051	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	102	cd01391	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	VAR_058051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058051	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	82	cd06379	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	VAR_058051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058051	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	95	cd06374	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	VAR_058051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058051	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	70_G	cd06370	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	VAR_058051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058051	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	118	cd06352	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	VAR_058051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058051	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	99	cd06364	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	VAR_058051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058051	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	63	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	VAR_058051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058051	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	86	cd06362	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	VAR_058051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058051	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	79	cd06376	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	VAR_058051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058051	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	89_G	cd06365	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	VAR_058051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058051	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	91	cd06375	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	VAR_058051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058051	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	117	cd06363	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	VAR_058051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058051	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	80	cd06366	37577159,NP_000379
846	1168781	Disease	p.Asn118Lys	VAR_058051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058051	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	120	cd06268	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	VAR_058052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058052	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	96	cd06361	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	VAR_058052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058052	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	190	cd06269	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	VAR_058052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058052	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	109	cd04509	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	VAR_058052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058052	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	138	cd06350	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	VAR_058052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058052	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	109	cd01391	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	VAR_058052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058052	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	87_G	cd06379	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	VAR_058052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058052	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	108	cd06374	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	VAR_058052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058052	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	70_G	cd06370	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	VAR_058052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058052	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	121_G	cd06352	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	VAR_058052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058052	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	106	cd06364	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	VAR_058052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058052	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	100	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	VAR_058052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058052	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	93	cd06362	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	VAR_058052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058052	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	87	cd06376	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	VAR_058052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058052	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	93	cd06365	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	VAR_058052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058052	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	98	cd06375	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	VAR_058052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058052	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	122	cd06363	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	VAR_058052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058052	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	106	cd06366	37577159,NP_000379
846	1168781	Disease	p.Leu125Pro	VAR_058052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058052	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	142	cd06268	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	VAR_058053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058053	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	99	cd06361	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	VAR_058053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058053	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	206	cd06269	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	VAR_058053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058053	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	122	cd04509	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	VAR_058053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058053	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	154	cd06350	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	VAR_058053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058053	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	122	cd01391	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	VAR_058053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058053	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	88	cd06379	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	VAR_058053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058053	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	111	cd06374	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	VAR_058053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058053	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	70_G	cd06370	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	VAR_058053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058053	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	121_G	cd06352	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	VAR_058053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058053	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	109	cd06364	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	VAR_058053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058053	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	103	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	VAR_058053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058053	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	96	cd06362	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	VAR_058053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058053	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	90	cd06376	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	VAR_058053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058053	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	96	cd06365	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	VAR_058053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058053	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	103	cd06375	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	VAR_058053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058053	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	125	cd06363	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	VAR_058053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058053	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	106_G	cd06366	37577159,NP_000379
846	1168781	Disease	p.Phe128Leu	VAR_058053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058053	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	145	cd06268	37577159,NP_000379
846	1168781	Disease	p.Cys131Trp	VAR_058054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058054	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	103	cd06361	37577159,NP_000379
846	1168781	Disease	p.Cys131Trp	VAR_058054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058054	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	209	cd06269	37577159,NP_000379
846	1168781	Disease	p.Cys131Trp	VAR_058054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058054	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	125	cd04509	37577159,NP_000379
846	1168781	Disease	p.Cys131Trp	VAR_058054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058054	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	157	cd06350	37577159,NP_000379
846	1168781	Disease	p.Cys131Trp	VAR_058054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058054	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	125	cd01391	37577159,NP_000379
846	1168781	Disease	p.Cys131Trp	VAR_058054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058054	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	91	cd06379	37577159,NP_000379
846	1168781	Disease	p.Cys131Trp	VAR_058054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058054	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	114	cd06374	37577159,NP_000379
846	1168781	Disease	p.Cys131Trp	VAR_058054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058054	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	70_G	cd06370	37577159,NP_000379
846	1168781	Disease	p.Cys131Trp	VAR_058054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058054	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	121_G	cd06352	37577159,NP_000379
846	1168781	Disease	p.Cys131Trp	VAR_058054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058054	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	112	cd06364	37577159,NP_000379
846	1168781	Disease	p.Cys131Trp	VAR_058054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058054	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	106	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Cys131Trp	VAR_058054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058054	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	99	cd06362	37577159,NP_000379
846	1168781	Disease	p.Cys131Trp	VAR_058054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058054	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	94	cd06376	37577159,NP_000379
846	1168781	Disease	p.Cys131Trp	VAR_058054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058054	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	102	cd06365	37577159,NP_000379
846	1168781	Disease	p.Cys131Trp	VAR_058054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058054	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	106	cd06375	37577159,NP_000379
846	1168781	Disease	p.Cys131Trp	VAR_058054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058054	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	128	cd06363	37577159,NP_000379
846	1168781	Disease	p.Cys131Trp	VAR_058054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058054	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	106_G	cd06366	37577159,NP_000379
846	1168781	Disease	p.Cys131Trp	VAR_058054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058054	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	146_G	cd06268	37577159,NP_000379
846	1168781	Disease	p.Thr138Met	VAR_003590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003590	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	110	cd06361	37577159,NP_000379
846	1168781	Disease	p.Thr138Met	VAR_003590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003590	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	216	cd06269	37577159,NP_000379
846	1168781	Disease	p.Thr138Met	VAR_003590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003590	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	132	cd04509	37577159,NP_000379
846	1168781	Disease	p.Thr138Met	VAR_003590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003590	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	164	cd06350	37577159,NP_000379
846	1168781	Disease	p.Thr138Met	VAR_003590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003590	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	132	cd01391	37577159,NP_000379
846	1168781	Disease	p.Thr138Met	VAR_003590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003590	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	98	cd06379	37577159,NP_000379
846	1168781	Disease	p.Thr138Met	VAR_003590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003590	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	121	cd06374	37577159,NP_000379
846	1168781	Disease	p.Thr138Met	VAR_003590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003590	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	77	cd06370	37577159,NP_000379
846	1168781	Disease	p.Thr138Met	VAR_003590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003590	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	121_G	cd06352	37577159,NP_000379
846	1168781	Disease	p.Thr138Met	VAR_003590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003590	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	119	cd06364	37577159,NP_000379
846	1168781	Disease	p.Thr138Met	VAR_003590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003590	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	125	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Thr138Met	VAR_003590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003590	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	136	cd06362	37577159,NP_000379
846	1168781	Disease	p.Thr138Met	VAR_003590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003590	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	101	cd06376	37577159,NP_000379
846	1168781	Disease	p.Thr138Met	VAR_003590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003590	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	110	cd06365	37577159,NP_000379
846	1168781	Disease	p.Thr138Met	VAR_003590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003590	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	113	cd06375	37577159,NP_000379
846	1168781	Disease	p.Thr138Met	VAR_003590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003590	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	135	cd06363	37577159,NP_000379
846	1168781	Disease	p.Thr138Met	VAR_003590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003590	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	111	cd06366	37577159,NP_000379
846	1168781	Disease	p.Thr138Met	VAR_003590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003590	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	151	cd06268	37577159,NP_000379
846	1168781	Disease	p.Gly143Glu	VAR_003591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003591	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	115	cd06361	37577159,NP_000379
846	1168781	Disease	p.Gly143Glu	VAR_003591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003591	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	221	cd06269	37577159,NP_000379
846	1168781	Disease	p.Gly143Glu	VAR_003591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003591	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	137	cd04509	37577159,NP_000379
846	1168781	Disease	p.Gly143Glu	VAR_003591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003591	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	169	cd06350	37577159,NP_000379
846	1168781	Disease	p.Gly143Glu	VAR_003591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003591	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	137	cd01391	37577159,NP_000379
846	1168781	Disease	p.Gly143Glu	VAR_003591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003591	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	108	cd06379	37577159,NP_000379
846	1168781	Disease	p.Gly143Glu	VAR_003591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003591	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	126	cd06374	37577159,NP_000379
846	1168781	Disease	p.Gly143Glu	VAR_003591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003591	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	82	cd06370	37577159,NP_000379
846	1168781	Disease	p.Gly143Glu	VAR_003591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003591	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	125	cd06352	37577159,NP_000379
846	1168781	Disease	p.Gly143Glu	VAR_003591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003591	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	124	cd06364	37577159,NP_000379
846	1168781	Disease	p.Gly143Glu	VAR_003591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003591	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	132	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Gly143Glu	VAR_003591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003591	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	141	cd06362	37577159,NP_000379
846	1168781	Disease	p.Gly143Glu	VAR_003591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003591	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	114	cd06376	37577159,NP_000379
846	1168781	Disease	p.Gly143Glu	VAR_003591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003591	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	115	cd06365	37577159,NP_000379
846	1168781	Disease	p.Gly143Glu	VAR_003591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003591	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	119	cd06375	37577159,NP_000379
846	1168781	Disease	p.Gly143Glu	VAR_003591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003591	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	140	cd06363	37577159,NP_000379
846	1168781	Disease	p.Gly143Glu	VAR_003591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003591	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	116	cd06366	37577159,NP_000379
846	1168781	Disease	p.Gly143Glu	VAR_003591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003591	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	156	cd06268	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	VAR_058055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058055	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	123	cd06361	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	VAR_058055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058055	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	229	cd06269	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	VAR_058055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058055	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	145	cd04509	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	VAR_058055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058055	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	180	cd06350	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	VAR_058055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058055	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	145	cd01391	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	VAR_058055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058055	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	119	cd06379	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	VAR_058055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058055	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	134	cd06374	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	VAR_058055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058055	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	90	cd06370	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	VAR_058055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058055	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	148	cd06352	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	VAR_058055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058055	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	132	cd06364	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	VAR_058055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058055	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	156	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	VAR_058055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058055	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	149	cd06362	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	VAR_058055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058055	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	122	cd06376	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	VAR_058055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058055	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	126	cd06365	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	VAR_058055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058055	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	127	cd06375	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	VAR_058055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058055	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	148	cd06363	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	VAR_058055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058055	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	124	cd06366	37577159,NP_000379
846	1168781	Disease	p.Thr151Met	VAR_058055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058055	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	164	cd06268	37577159,NP_000379
846	1168781	Disease	p.Leu174Arg	VAR_003592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003592	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	146	cd06361	37577159,NP_000379
846	1168781	Disease	p.Leu174Arg	VAR_003592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003592	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	326	cd06269	37577159,NP_000379
846	1168781	Disease	p.Leu174Arg	VAR_003592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003592	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	175	cd04509	37577159,NP_000379
846	1168781	Disease	p.Leu174Arg	VAR_003592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003592	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	207	cd06350	37577159,NP_000379
846	1168781	Disease	p.Leu174Arg	VAR_003592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003592	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	175	cd01391	37577159,NP_000379
846	1168781	Disease	p.Leu174Arg	VAR_003592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003592	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	142	cd06379	37577159,NP_000379
846	1168781	Disease	p.Leu174Arg	VAR_003592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003592	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	157	cd06374	37577159,NP_000379
846	1168781	Disease	p.Leu174Arg	VAR_003592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003592	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	114	cd06370	37577159,NP_000379
846	1168781	Disease	p.Leu174Arg	VAR_003592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003592	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	174	cd06352	37577159,NP_000379
846	1168781	Disease	p.Leu174Arg	VAR_003592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003592	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	155	cd06364	37577159,NP_000379
846	1168781	Disease	p.Leu174Arg	VAR_003592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003592	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	208	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Leu174Arg	VAR_003592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003592	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	172	cd06362	37577159,NP_000379
846	1168781	Disease	p.Leu174Arg	VAR_003592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003592	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	145	cd06376	37577159,NP_000379
846	1168781	Disease	p.Leu174Arg	VAR_003592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003592	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	149	cd06365	37577159,NP_000379
846	1168781	Disease	p.Leu174Arg	VAR_003592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003592	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	150	cd06375	37577159,NP_000379
846	1168781	Disease	p.Leu174Arg	VAR_003592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003592	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	171	cd06363	37577159,NP_000379
846	1168781	Disease	p.Leu174Arg	VAR_003592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003592	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	151	cd06366	37577159,NP_000379
846	1168781	Disease	p.Leu174Arg	VAR_003592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003592	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	195	cd06268	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	VAR_058057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058057	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	152	cd06361	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	VAR_058057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058057	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	368	cd06269	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	VAR_058057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058057	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	189	cd04509	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	VAR_058057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058057	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	216	cd06350	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	VAR_058057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058057	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	189	cd01391	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	VAR_058057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058057	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	148	cd06379	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	VAR_058057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058057	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	163	cd06374	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	VAR_058057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058057	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	121	cd06370	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	VAR_058057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058057	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	206	cd06352	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	VAR_058057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058057	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	161	cd06364	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	VAR_058057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058057	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	224	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	VAR_058057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058057	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	178	cd06362	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	VAR_058057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058057	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	151	cd06376	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	VAR_058057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058057	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	155	cd06365	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	VAR_058057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058057	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	156	cd06375	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	VAR_058057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058057	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	177	cd06363	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	VAR_058057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058057	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	158	cd06366	37577159,NP_000379
846	1168781	Disease	p.Phe180Cys	VAR_058057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058057	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	208	cd06268	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	VAR_003593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003593	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	157	cd06361	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	VAR_003593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003593	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	373	cd06269	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	VAR_003593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003593	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	194	cd04509	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	VAR_003593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003593	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	221	cd06350	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	VAR_003593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003593	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	194	cd01391	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	VAR_003593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003593	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	153	cd06379	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	VAR_003593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003593	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	168	cd06374	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	VAR_003593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003593	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	126	cd06370	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	VAR_003593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003593	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	211	cd06352	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	VAR_003593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003593	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	166	cd06364	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	VAR_003593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003593	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	229	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	VAR_003593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003593	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	183	cd06362	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	VAR_003593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003593	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	156	cd06376	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	VAR_003593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003593	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	160	cd06365	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	VAR_003593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003593	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	161	cd06375	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	VAR_003593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003593	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	182	cd06363	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	VAR_003593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003593	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	163	cd06366	37577159,NP_000379
846	1168781	Disease	p.Arg185Gln	VAR_003593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003593	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	213	cd06268	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	VAR_058058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058058	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	163	cd06361	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	VAR_058058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058058	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	379	cd06269	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	VAR_058058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058058	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	200	cd04509	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	VAR_058058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058058	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	227	cd06350	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	VAR_058058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058058	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	200	cd01391	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	VAR_058058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058058	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	159	cd06379	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	VAR_058058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058058	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	174	cd06374	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	VAR_058058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058058	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	132	cd06370	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	VAR_058058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058058	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	217	cd06352	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	VAR_058058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058058	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	172	cd06364	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	VAR_058058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058058	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	262	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	VAR_058058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058058	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	189	cd06362	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	VAR_058058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058058	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	162	cd06376	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	VAR_058058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058058	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	166	cd06365	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	VAR_058058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058058	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	167	cd06375	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	VAR_058058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058058	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	188	cd06363	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	VAR_058058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058058	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	169	cd06366	37577159,NP_000379
846	1168781	Disease	p.Glu191Lys	VAR_058058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058058	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	219	cd06268	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	VAR_003594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003594	rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	199	cd06361	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	VAR_003594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003594	rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	484	cd06269	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	VAR_003594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003594	rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	251	cd04509	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	VAR_003594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003594	rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	275	cd06350	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	VAR_003594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003594	rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	260	cd01391	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	VAR_003594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003594	rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	195	cd06379	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	VAR_003594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003594	rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	210	cd06374	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	VAR_003594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003594	rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	170	cd06370	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	VAR_003594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003594	rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	285	cd06352	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	VAR_003594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003594	rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	208	cd06364	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	VAR_003594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003594	rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	328	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	VAR_003594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003594	rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	241	cd06362	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	VAR_003594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003594	rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	198	cd06376	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	VAR_003594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003594	rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	202	cd06365	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	VAR_003594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003594	rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	203	cd06375	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	VAR_003594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003594	rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	224	cd06363	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	VAR_003594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003594	rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	207	cd06366	37577159,NP_000379
846	1168781	Disease	p.Arg227Leu	VAR_003594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003594	rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	268	cd06268	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	VAR_003595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003595	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	199	cd06361	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	VAR_003595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003595	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	484	cd06269	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	VAR_003595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003595	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	251	cd04509	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	VAR_003595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003595	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	275	cd06350	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	VAR_003595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003595	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	260	cd01391	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	VAR_003595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003595	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	195	cd06379	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	VAR_003595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003595	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	210	cd06374	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	VAR_003595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003595	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	170	cd06370	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	VAR_003595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003595	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	285	cd06352	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	VAR_003595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003595	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	208	cd06364	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	VAR_003595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003595	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	328	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	VAR_003595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003595	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	241	cd06362	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	VAR_003595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003595	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	198	cd06376	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	VAR_003595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003595	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	202	cd06365	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	VAR_003595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003595	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	203	cd06375	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	VAR_003595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003595	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	224	cd06363	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	VAR_003595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003595	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	207	cd06366	37577159,NP_000379
846	1168781	Disease	p.Arg227Gln	VAR_003595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003595	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	268	cd06268	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	276	cd06361	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	681	cd06269	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	364	cd04509	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	386	cd06350	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	382	cd01391	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	286	cd06379	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	289	cd06374	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	266	cd06370	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	379_G	cd06352	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	278	cd06364	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	434	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	330	cd06362	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	274	cd06376	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	277	cd06365	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	276	cd06375	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	302	cd06363	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	301	cd06366	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	385	cd06268	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	276	cd06361	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	681	cd06269	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	364	cd04509	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	386	cd06350	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	382	cd01391	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	286	cd06379	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	289	cd06374	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	266	cd06370	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	379_G	cd06352	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	278	cd06364	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	434	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	330	cd06362	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	274	cd06376	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	277	cd06365	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	276	cd06375	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	302	cd06363	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	301	cd06366	37577159,NP_000379
846	1168781	Disease	p.Glu297Lys	VAR_003596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003596	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	385	cd06268	37577159,NP_000379
846	1168781	Disease	p.Glu354Ala	VAR_060206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060206	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	335	cd06361	37577159,NP_000379
846	1168781	Disease	p.Glu354Ala	VAR_060206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060206	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	776	cd06269	37577159,NP_000379
846	1168781	Disease	p.Glu354Ala	VAR_060206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060206	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	458	cd04509	37577159,NP_000379
846	1168781	Disease	p.Glu354Ala	VAR_060206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060206	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	489	cd06350	37577159,NP_000379
846	1168781	Disease	p.Glu354Ala	VAR_060206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060206	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	476	cd01391	37577159,NP_000379
846	1168781	Disease	p.Glu354Ala	VAR_060206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060206	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	303_G	cd06379	37577159,NP_000379
846	1168781	Disease	p.Glu354Ala	VAR_060206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060206	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	345	cd06374	37577159,NP_000379
846	1168781	Disease	p.Glu354Ala	VAR_060206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060206	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	342	cd06370	37577159,NP_000379
846	1168781	Disease	p.Glu354Ala	VAR_060206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060206	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	430	cd06352	37577159,NP_000379
846	1168781	Disease	p.Glu354Ala	VAR_060206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060206	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	335	cd06364	37577159,NP_000379
846	1168781	Disease	p.Glu354Ala	VAR_060206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060206	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	527	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Glu354Ala	VAR_060206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060206	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	399	cd06362	37577159,NP_000379
846	1168781	Disease	p.Glu354Ala	VAR_060206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060206	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	330	cd06376	37577159,NP_000379
846	1168781	Disease	p.Glu354Ala	VAR_060206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060206	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	338	cd06365	37577159,NP_000379
846	1168781	Disease	p.Glu354Ala	VAR_060206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060206	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	332	cd06375	37577159,NP_000379
846	1168781	Disease	p.Glu354Ala	VAR_060206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060206	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	356	cd06363	37577159,NP_000379
846	1168781	Disease	p.Glu354Ala	VAR_060206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060206	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	377	cd06366	37577159,NP_000379
846	1168781	Disease	p.Glu354Ala	VAR_060206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060206	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	481	cd06268	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	VAR_058064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058064	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	424	cd06361	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	VAR_058064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058064	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	1068	cd06269	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	VAR_058064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058064	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	577	cd04509	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	VAR_058064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058064	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	654	cd06350	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	VAR_058064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058064	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	595	cd01391	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	VAR_058064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058064	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	358	cd06379	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	VAR_058064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058064	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	427	cd06374	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	VAR_058064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058064	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	441	cd06370	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	VAR_058064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058064	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	578	cd06352	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	VAR_058064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058064	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	446	cd06364	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	VAR_058064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058064	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	780	pfam01094	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	VAR_058064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058064	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	526	cd06362	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	VAR_058064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058064	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	413	cd06376	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	VAR_058064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058064	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	483	cd06365	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	VAR_058064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058064	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	456	cd06375	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	VAR_058064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058064	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	435	cd06363	37577159,NP_000379
846	1168781	Disease	p.Arg465Gln	VAR_058064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058064	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	491	cd06366	37577159,NP_000379
846	1168781	Disease	p.Gly553Arg	VAR_058066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058066	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	19	pfam07562	37577159,NP_000379
846	1168781	Disease	p.Gly557Glu	VAR_012649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012649	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	23	pfam07562	37577159,NP_000379
846	1168781	Disease	p.Cys582Phe	VAR_058069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058069	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	50	pfam07562	37577159,NP_000379
846	1168781	Disease	p.Cys582Tyr	VAR_003597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003597	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	50	pfam07562	37577159,NP_000379
846	1168781	Disease	p.Glu604Lys	VAR_058070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058070	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	No Domain	N/A	37577159,NP_000379
846	1168781	Disease	p.Phe612Ser	VAR_058071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058071	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	No Domain	N/A	37577159,NP_000379
846	1168781	Disease	p.Leu616Val	VAR_015414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015414	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	No Domain	N/A	37577159,NP_000379
846	1168781	Disease	p.Gly670Glu	VAR_058073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058073	- Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]	SWISS	64	pfam00003	37577159,NP_000379
846	1168781	Disease	p.Gln681His	VAR_003598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003598	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	100	pfam00003	37577159,NP_000379
846	1168781	Disease	p.Ile686Val	VAR_060207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060207	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	105	pfam00003	37577159,NP_000379
846	1168781	Disease	p.Leu727Gln	VAR_058075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058075	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	206	pfam00003	37577159,NP_000379
846	1168781	Disease	p.Phe788Cys	VAR_058079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058079	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	361	pfam00003	37577159,NP_000379
846	1168781	Disease	p.Phe788Leu	VAR_058080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058080	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	361	pfam00003	37577159,NP_000379
846	1168781	Disease	p.Arg795Trp	VAR_003599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003599	- Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]	SWISS	397	pfam00003	37577159,NP_000379
846	1168781	Disease	p.Phe806Ser	VAR_003600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003600	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	411	pfam00003	37577159,NP_000379
846	1168781	Disease	p.Ser820Phe	VAR_058081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058081	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	425	pfam00003	37577159,NP_000379
846	1168781	Disease	p.Ala843Glu	VAR_058082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058082	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	496	pfam00003	37577159,NP_000379
846	1168781	Disease	p.Arg898Gln	VAR_060208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060208	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	No Domain	N/A	37577159,NP_000379
846	1168781	Disease	p.Ala988Gly	VAR_060209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060209	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	No Domain	N/A	37577159,NP_000379
846	1168781	Disease	p.Ala988Val	VAR_060210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060210	- Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]	SWISS	No Domain	N/A	37577159,NP_000379
859	3182930	Disease	p.Val14Leu	VAR_043694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043694	- Sudden infant death syndrome (SIDS) [MIM:272120]	SWISS	41	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Arg27Gln	VAR_011512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011512	- HyperCKmia [MIM:123320]	SWISS	64	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Arg27Gln	VAR_011512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011512	- Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]	SWISS	64	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Arg27Gln	VAR_011512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011512	- Rippling muscle disease (RMD) [MIM:606072]	SWISS	64	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Asp28Glu	VAR_015374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015374	- Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]	SWISS	65	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Asp28Glu	VAR_015374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015374	- Rippling muscle disease (RMD) [MIM:606072]	SWISS	65	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Pro29Leu	VAR_029540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029540	- HyperCKmia [MIM:123320]	SWISS	66	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Asn33Lys	VAR_021016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021016	- Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]	SWISS	70	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Val44Glu	VAR_021017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021017	- Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]	SWISS	82	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Ala46Thr	VAR_011513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011513	- Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]	SWISS	84	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Ala46Thr	VAR_011513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011513	- Rippling muscle disease (RMD) [MIM:606072]	SWISS	84	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Ala46Val	VAR_011514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011514	- Rippling muscle disease (RMD) [MIM:606072]	SWISS	84	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Ser53Gly	VAR_029541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029541	- Rippling muscle disease (RMD) [MIM:606072]	SWISS	92	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Val57Met	VAR_010742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010742	- HyperCKmia [MIM:123320]	SWISS	96	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Thr64Pro	VAR_021018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021018	- Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]	SWISS	103	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Thr64Ser	VAR_029543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029543	- Cardiomyopathy familial hypertrophic (CMH) [MIM:192600]	SWISS	103	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Thr78Met	VAR_043695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043695	- Long QT syndrome type 9 (LQT9) [MIM:611818]	SWISS	117	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Thr78Met	VAR_043695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043695	- Sudden infant death syndrome (SIDS) [MIM:272120]	SWISS	117	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Leu79Arg	VAR_043696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043696	- Long QT syndrome type 9 (LQT9) [MIM:611818]	SWISS	118	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Leu79Arg	VAR_043696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043696	- Sudden infant death syndrome (SIDS) [MIM:272120]	SWISS	118	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Ala85Thr	VAR_043697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043697	- Long QT syndrome type 9 (LQT9) [MIM:611818]	SWISS	124	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Leu87Pro	VAR_016207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016207	rs28936685 Rippling muscle disease (RMD) [MIM:606072]	SWISS	126	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Ala93Thr	VAR_016208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016208	rs28936686 Rippling muscle disease (RMD) [MIM:606072]	SWISS	132	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Phe97Cys	VAR_043698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043698	- Long QT syndrome type 9 (LQT9) [MIM:611818]	SWISS	136	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Pro105Leu	VAR_001403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001403	- Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]	SWISS	144	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Pro105Leu	VAR_001403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001403	- Rippling muscle disease (RMD) [MIM:606072]	SWISS	144	pfam01146	15451860,NP_203123|4502589,NP_001225
859	3182930	Disease	p.Ser141Arg	VAR_043699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043699	- Long QT syndrome type 9 (LQT9) [MIM:611818]	SWISS	180	pfam01146	15451860,NP_203123|4502589,NP_001225
875	543959	Disease	p.Pro49Leu	VAR_008049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008049	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	32	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg58Trp	VAR_008050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008050	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	47	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.His65Arg	VAR_021790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021790	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	8	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.His65Arg	VAR_021790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021790	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	58	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro78Arg	VAR_002171	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002171	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	9	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro78Arg	VAR_002171	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002171	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	8	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro78Arg	VAR_002171	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002171	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	9_G	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro78Arg	VAR_002171	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002171	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	23	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro78Arg	VAR_002171	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002171	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	10	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro78Arg	VAR_002171	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002171	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	76	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro78Arg	VAR_002171	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002171	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	3	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly85Arg	VAR_008051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008051	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	23	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly85Arg	VAR_008051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008051	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	17	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly85Arg	VAR_008051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008051	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	7	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly85Arg	VAR_008051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008051	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	15	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly85Arg	VAR_008051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008051	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	30	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly85Arg	VAR_008051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008051	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	20	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly85Arg	VAR_008051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008051	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	83	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly85Arg	VAR_008051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008051	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	34	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro88Ser	VAR_002172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002172	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	4	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro88Ser	VAR_002172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002172	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	26	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro88Ser	VAR_002172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002172	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	20	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro88Ser	VAR_002172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002172	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	10	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro88Ser	VAR_002172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002172	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	18	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro88Ser	VAR_002172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002172	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	38	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro88Ser	VAR_002172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002172	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	27	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro88Ser	VAR_002172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002172	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	2	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro88Ser	VAR_002172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002172	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	2	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro88Ser	VAR_002172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002172	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	86	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro88Ser	VAR_002172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002172	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	37	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu101Pro	VAR_021791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021791	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	22	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu101Pro	VAR_021791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021791	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	40	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu101Pro	VAR_021791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021791	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	54	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu101Pro	VAR_021791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021791	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	32	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu101Pro	VAR_021791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021791	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	36	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu101Pro	VAR_021791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021791	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	60	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu101Pro	VAR_021791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021791	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	39	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu101Pro	VAR_021791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021791	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	15	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu101Pro	VAR_021791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021791	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	36	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu101Pro	VAR_021791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021791	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	110	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu101Pro	VAR_021791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021791	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	50	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Asn	VAR_002173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002173	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	23	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Asn	VAR_002173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002173	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	41	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Asn	VAR_002173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002173	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	55	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Asn	VAR_002173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002173	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	33	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Asn	VAR_002173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002173	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	37	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Asn	VAR_002173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002173	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	61	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Asn	VAR_002173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002173	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	40	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Asn	VAR_002173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002173	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	16	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Asn	VAR_002173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002173	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	37	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Asn	VAR_002173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002173	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	111	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Asn	VAR_002173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002173	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	62	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Gln	VAR_008052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008052	rs34040148 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	23	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Gln	VAR_008052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008052	rs34040148 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	41	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Gln	VAR_008052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008052	rs34040148 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	55	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Gln	VAR_008052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008052	rs34040148 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	33	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Gln	VAR_008052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008052	rs34040148 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	37	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Gln	VAR_008052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008052	rs34040148 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	61	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Gln	VAR_008052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008052	rs34040148 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	40	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Gln	VAR_008052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008052	rs34040148 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	16	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Gln	VAR_008052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008052	rs34040148 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	37	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Gln	VAR_008052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008052	rs34040148 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	111	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys102Gln	VAR_008052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008052	rs34040148 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	62	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys109Arg	VAR_021792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021792	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	30	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys109Arg	VAR_021792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021792	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	48	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys109Arg	VAR_021792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021792	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	62	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys109Arg	VAR_021792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021792	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	41	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys109Arg	VAR_021792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021792	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	44	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys109Arg	VAR_021792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021792	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	68	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys109Arg	VAR_021792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021792	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	47	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys109Arg	VAR_021792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021792	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	23	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys109Arg	VAR_021792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021792	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	44	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys109Arg	VAR_021792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021792	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	123	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys109Arg	VAR_021792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021792	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	69	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	VAR_002174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002174	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	35	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	VAR_002174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002174	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	53	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	VAR_002174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002174	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	67	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	VAR_002174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002174	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	48	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	VAR_002174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002174	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	49	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	VAR_002174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002174	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	73	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	VAR_002174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002174	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	52	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	VAR_002174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002174	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	28	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	VAR_002174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002174	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	49	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	VAR_002174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002174	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	129	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala114Val	VAR_002174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002174	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	74	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly116Arg	VAR_008053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008053	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	38	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly116Arg	VAR_008053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008053	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	56	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly116Arg	VAR_008053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008053	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	69	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly116Arg	VAR_008053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008053	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	51	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly116Arg	VAR_008053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008053	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	51	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly116Arg	VAR_008053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008053	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	75	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly116Arg	VAR_008053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008053	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	63	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly116Arg	VAR_008053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008053	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	30	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly116Arg	VAR_008053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008053	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	54	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly116Arg	VAR_008053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008053	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	131	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly116Arg	VAR_008053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008053	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	76	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Cys	VAR_008054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008054	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	43	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Cys	VAR_008054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008054	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	61	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Cys	VAR_008054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008054	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	74	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Cys	VAR_008054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008054	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	58	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Cys	VAR_008054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008054	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	59	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Cys	VAR_008054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008054	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	80	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Cys	VAR_008054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008054	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	73	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Cys	VAR_008054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008054	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	38	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Cys	VAR_008054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008054	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	59	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Cys	VAR_008054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008054	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	136	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Cys	VAR_008054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008054	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	82	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121His	VAR_008055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008055	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	43	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121His	VAR_008055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008055	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	61	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121His	VAR_008055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008055	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	74	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121His	VAR_008055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008055	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	58	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121His	VAR_008055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008055	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	59	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121His	VAR_008055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008055	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	80	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121His	VAR_008055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008055	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	73	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121His	VAR_008055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008055	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	38	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121His	VAR_008055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008055	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	59	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121His	VAR_008055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008055	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	136	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121His	VAR_008055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008055	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	82	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Leu	VAR_008056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008056	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	43	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Leu	VAR_008056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008056	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	61	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Leu	VAR_008056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008056	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	74	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Leu	VAR_008056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008056	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	58	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Leu	VAR_008056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008056	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	59	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Leu	VAR_008056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008056	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	80	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Leu	VAR_008056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008056	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	73	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Leu	VAR_008056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008056	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	38	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Leu	VAR_008056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008056	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	59	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Leu	VAR_008056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008056	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	136	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg121Leu	VAR_008056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008056	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	82	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Pro	VAR_046923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046923	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	47	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Pro	VAR_046923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046923	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	65	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Pro	VAR_046923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046923	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	78	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Pro	VAR_046923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046923	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	65	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Pro	VAR_046923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046923	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	63	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Pro	VAR_046923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046923	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	84	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Pro	VAR_046923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046923	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	77	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Pro	VAR_046923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046923	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	42	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Pro	VAR_046923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046923	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	63	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Pro	VAR_046923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046923	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	140	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Pro	VAR_046923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046923	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	86	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Gln	VAR_002175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002175	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	47	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Gln	VAR_002175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002175	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	65	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Gln	VAR_002175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002175	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	78	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Gln	VAR_002175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002175	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	65	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Gln	VAR_002175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002175	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	63	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Gln	VAR_002175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002175	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	84	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Gln	VAR_002175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002175	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	77	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Gln	VAR_002175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002175	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	42	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Gln	VAR_002175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002175	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	63	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Gln	VAR_002175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002175	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	140	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Gln	VAR_002175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002175	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	86	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Trp	VAR_008057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008057	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	47	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Trp	VAR_008057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008057	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	65	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Trp	VAR_008057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008057	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	78	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Trp	VAR_008057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008057	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	65	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Trp	VAR_008057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008057	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	63	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Trp	VAR_008057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008057	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	84	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Trp	VAR_008057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008057	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	77	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Trp	VAR_008057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008057	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	42	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Trp	VAR_008057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008057	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	63	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Trp	VAR_008057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008057	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	140	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg125Trp	VAR_008057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008057	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	86	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met126Val	VAR_008058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008058	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	48	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met126Val	VAR_008058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008058	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	66	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met126Val	VAR_008058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008058	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	79	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met126Val	VAR_008058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008058	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	68	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met126Val	VAR_008058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008058	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	64	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met126Val	VAR_008058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008058	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	85	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met126Val	VAR_008058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008058	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	78	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met126Val	VAR_008058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008058	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	43	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met126Val	VAR_008058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008058	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	64	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met126Val	VAR_008058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008058	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	141	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met126Val	VAR_008058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008058	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	87	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu128Asp	VAR_008059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008059	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	50	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu128Asp	VAR_008059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008059	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	68	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu128Asp	VAR_008059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008059	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	81	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu128Asp	VAR_008059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008059	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	74	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu128Asp	VAR_008059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008059	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	66	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu128Asp	VAR_008059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008059	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	87	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu128Asp	VAR_008059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008059	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	80	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu128Asp	VAR_008059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008059	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	45	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu128Asp	VAR_008059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008059	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	66	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu128Asp	VAR_008059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008059	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	143	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu128Asp	VAR_008059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008059	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	89	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu131Asp	VAR_002176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002176	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	53	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu131Asp	VAR_002176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002176	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	71	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu131Asp	VAR_002176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002176	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	84	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu131Asp	VAR_002176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002176	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	81	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu131Asp	VAR_002176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002176	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	69	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu131Asp	VAR_002176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002176	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	90	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu131Asp	VAR_002176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002176	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	83	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu131Asp	VAR_002176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002176	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	48	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu131Asp	VAR_002176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002176	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	69	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu131Asp	VAR_002176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002176	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	146	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu131Asp	VAR_002176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002176	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	92	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	VAR_008060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008060	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	63	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	VAR_008060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008060	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	81	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	VAR_008060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008060	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	97	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	VAR_008060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008060	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	120	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	VAR_008060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008060	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	73_G	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	VAR_008060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008060	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	96_G	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	VAR_008060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008060	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	97	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	VAR_008060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008060	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	52_G	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	VAR_008060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008060	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	100	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	VAR_008060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008060	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	163	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly139Arg	VAR_008060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008060	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	100	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile143Met	VAR_021793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021793	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	67	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile143Met	VAR_021793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021793	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	85	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile143Met	VAR_021793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021793	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	99	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile143Met	VAR_021793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021793	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	131	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile143Met	VAR_021793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021793	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	77	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile143Met	VAR_021793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021793	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	99	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile143Met	VAR_021793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021793	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	102	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile143Met	VAR_021793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021793	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	56	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile143Met	VAR_021793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021793	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	104	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile143Met	VAR_021793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021793	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	167	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile143Met	VAR_021793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021793	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	106	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	VAR_002177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002177	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	68	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	VAR_002177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002177	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	86	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	VAR_002177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002177	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	100	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	VAR_002177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002177	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	141	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	VAR_002177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002177	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	77_G	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	VAR_002177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002177	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	100	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	VAR_002177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002177	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	103	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	VAR_002177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002177	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	56_G	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	VAR_002177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002177	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	105	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	VAR_002177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002177	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	168	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu144Lys	VAR_002177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002177	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	107	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	VAR_002178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002178	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	69	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	VAR_002178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002178	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	87	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	VAR_002178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002178	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	101	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	VAR_002178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002178	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	142	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	VAR_002178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002178	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	77_G	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	VAR_002178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002178	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	101	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	VAR_002178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002178	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	104	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	VAR_002178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002178	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	56_G	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	VAR_002178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002178	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	106	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	VAR_002178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002178	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	169	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro145Leu	VAR_002178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002178	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	108	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly148Arg	VAR_008061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008061	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	72	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly148Arg	VAR_008061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008061	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	90	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly148Arg	VAR_008061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008061	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	104	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly148Arg	VAR_008061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008061	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	145	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly148Arg	VAR_008061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008061	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	80	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly148Arg	VAR_008061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008061	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	104	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly148Arg	VAR_008061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008061	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	107	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly148Arg	VAR_008061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008061	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	59	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly148Arg	VAR_008061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008061	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	111	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly148Arg	VAR_008061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008061	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	172	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly148Arg	VAR_008061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008061	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	111	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly151Arg	VAR_008062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008062	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	75	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly151Arg	VAR_008062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008062	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	93	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly151Arg	VAR_008062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008062	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	107	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly151Arg	VAR_008062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008062	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	186	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly151Arg	VAR_008062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008062	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	87	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly151Arg	VAR_008062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008062	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	107	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly151Arg	VAR_008062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008062	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	110	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly151Arg	VAR_008062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008062	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	66	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly151Arg	VAR_008062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008062	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	114	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly151Arg	VAR_008062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008062	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	175	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly151Arg	VAR_008062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008062	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	114	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile152Met	VAR_008064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008064	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	76	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile152Met	VAR_008064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008064	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	94	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile152Met	VAR_008064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008064	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	108	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile152Met	VAR_008064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008064	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	187	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile152Met	VAR_008064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008064	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	88	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile152Met	VAR_008064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008064	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	108	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile152Met	VAR_008064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008064	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	111	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile152Met	VAR_008064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008064	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	67	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile152Met	VAR_008064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008064	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	115	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile152Met	VAR_008064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008064	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	177	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile152Met	VAR_008064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008064	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	115	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu154Gln	VAR_046924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046924	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	78	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu154Gln	VAR_046924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046924	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	96	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu154Gln	VAR_046924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046924	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	110	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu154Gln	VAR_046924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046924	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	189	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu154Gln	VAR_046924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046924	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	90	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu154Gln	VAR_046924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046924	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	110	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu154Gln	VAR_046924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046924	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	113	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu154Gln	VAR_046924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046924	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	69	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu154Gln	VAR_046924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046924	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	117	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu154Gln	VAR_046924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046924	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	179	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu154Gln	VAR_046924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046924	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	117	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Thr	VAR_008065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008065	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	79	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Thr	VAR_008065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008065	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	97	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Thr	VAR_008065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008065	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	111	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Thr	VAR_008065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008065	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	190	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Thr	VAR_008065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008065	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	91	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Thr	VAR_008065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008065	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	111	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Thr	VAR_008065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008065	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	114	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Thr	VAR_008065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008065	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	70	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Thr	VAR_008065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008065	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	118	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Thr	VAR_008065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008065	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	180	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Thr	VAR_008065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008065	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	118	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Val	VAR_046925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046925	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	79	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Val	VAR_046925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046925	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	97	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Val	VAR_046925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046925	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	111	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Val	VAR_046925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046925	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	190	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Val	VAR_046925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046925	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	91	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Val	VAR_046925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046925	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	111	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Val	VAR_046925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046925	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	114	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Val	VAR_046925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046925	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	70	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Val	VAR_046925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046925	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	118	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Val	VAR_046925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046925	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	180	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala155Val	VAR_046925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046925	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	118	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys165Tyr	VAR_002179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002179	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	89	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys165Tyr	VAR_002179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002179	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	109	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys165Tyr	VAR_002179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002179	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	121	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys165Tyr	VAR_002179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002179	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	233	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys165Tyr	VAR_002179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002179	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	101	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys165Tyr	VAR_002179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002179	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	121	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys165Tyr	VAR_002179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002179	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	124	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys165Tyr	VAR_002179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002179	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	80	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys165Tyr	VAR_002179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002179	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	134	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys165Tyr	VAR_002179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002179	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	190	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys165Tyr	VAR_002179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002179	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	128	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Ala	VAR_046926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046926	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	92	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Ala	VAR_046926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046926	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	112	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Ala	VAR_046926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046926	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	124	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Ala	VAR_046926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046926	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	240	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Ala	VAR_046926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046926	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	104	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Ala	VAR_046926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046926	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	124	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Ala	VAR_046926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046926	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	127	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Ala	VAR_046926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046926	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	83	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Ala	VAR_046926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046926	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	137	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Ala	VAR_046926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046926	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	193	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Ala	VAR_046926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046926	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	131	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	VAR_002180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002180	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	92	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	VAR_002180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002180	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	112	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	VAR_002180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002180	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	124	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	VAR_002180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002180	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	240	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	VAR_002180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002180	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	104	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	VAR_002180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002180	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	124	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	VAR_002180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002180	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	127	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	VAR_002180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002180	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	83	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	VAR_002180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002180	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	137	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	VAR_002180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002180	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	193	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val168Met	VAR_002180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002180	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	131	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met173Val	VAR_046927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046927	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	97	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met173Val	VAR_046927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046927	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	117	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met173Val	VAR_046927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046927	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	129	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met173Val	VAR_046927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046927	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	251	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met173Val	VAR_046927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046927	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	109	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met173Val	VAR_046927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046927	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	130	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met173Val	VAR_046927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046927	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	132	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met173Val	VAR_046927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046927	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	88	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met173Val	VAR_046927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046927	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	142	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met173Val	VAR_046927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046927	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	199	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met173Val	VAR_046927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046927	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	137	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu176Lys	VAR_008066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008066	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	100	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu176Lys	VAR_008066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008066	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	121	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu176Lys	VAR_008066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008066	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	132	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu176Lys	VAR_008066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008066	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	268	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu176Lys	VAR_008066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008066	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	112	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu176Lys	VAR_008066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008066	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	133	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu176Lys	VAR_008066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008066	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	135	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu176Lys	VAR_008066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008066	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	91	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu176Lys	VAR_008066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008066	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	156	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu176Lys	VAR_008066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008066	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	202	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu176Lys	VAR_008066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008066	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	140	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val180Ala	VAR_008067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008067	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	104	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val180Ala	VAR_008067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008067	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	125	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val180Ala	VAR_008067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008067	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	136	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val180Ala	VAR_008067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008067	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	272	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val180Ala	VAR_008067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008067	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	124	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val180Ala	VAR_008067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008067	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	137	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val180Ala	VAR_008067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008067	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	139	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val180Ala	VAR_008067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008067	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	106	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val180Ala	VAR_008067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008067	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	160	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val180Ala	VAR_008067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008067	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	206	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val180Ala	VAR_008067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008067	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	144	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	VAR_008068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008068	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	115	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	VAR_008068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008068	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	136	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	VAR_008068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008068	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	147	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	VAR_008068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008068	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	286	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	VAR_008068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008068	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	135	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	VAR_008068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008068	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	152	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	VAR_008068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008068	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	153	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	VAR_008068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008068	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	117	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	VAR_008068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008068	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	174	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	VAR_008068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008068	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	219_G	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr191Met	VAR_008068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008068	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	155	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp198Val	VAR_008069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008069	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	125	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp198Val	VAR_008069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008069	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	141	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp198Val	VAR_008069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008069	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	156	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp198Val	VAR_008069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008069	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	299	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp198Val	VAR_008069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008069	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	142	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp198Val	VAR_008069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008069	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	169	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp198Val	VAR_008069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008069	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	164	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp198Val	VAR_008069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008069	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	124	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp198Val	VAR_008069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008069	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	194	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp198Val	VAR_008069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008069	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	225	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp198Val	VAR_008069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008069	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	164	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg224His	VAR_002181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002181	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	158	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg224His	VAR_002181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002181	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	176	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg224His	VAR_002181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002181	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	169	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg224His	VAR_002181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002181	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	363	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg224His	VAR_002181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002181	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	171	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg224His	VAR_002181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002181	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	187	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg224His	VAR_002181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002181	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	177	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg224His	VAR_002181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002181	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	149_G	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg224His	VAR_002181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002181	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	237	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg224His	VAR_002181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002181	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	254	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg224His	VAR_002181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002181	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	230	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala226Thr	VAR_008070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008070	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	160	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala226Thr	VAR_008070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008070	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	176_G	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala226Thr	VAR_008070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008070	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	171	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala226Thr	VAR_008070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008070	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	374	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala226Thr	VAR_008070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008070	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	173	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala226Thr	VAR_008070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008070	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	189	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala226Thr	VAR_008070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008070	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	179	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala226Thr	VAR_008070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008070	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	150	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala226Thr	VAR_008070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008070	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	239	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala226Thr	VAR_008070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008070	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	256	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala226Thr	VAR_008070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008070	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	232	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Lys	VAR_021794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021794	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	162	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Lys	VAR_021794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021794	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	176_G	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Lys	VAR_021794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021794	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	175	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Lys	VAR_021794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021794	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	376	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Lys	VAR_021794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021794	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	175	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Lys	VAR_021794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021794	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	191	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Lys	VAR_021794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021794	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	181	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Lys	VAR_021794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021794	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	153	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Lys	VAR_021794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021794	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	241	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Lys	VAR_021794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021794	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	258	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Lys	VAR_021794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021794	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	234	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Ser	VAR_046928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046928	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	162	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Ser	VAR_046928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046928	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	176_G	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Ser	VAR_046928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046928	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	175	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Ser	VAR_046928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046928	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	376	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Ser	VAR_046928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046928	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	175	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Ser	VAR_046928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046928	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	191	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Ser	VAR_046928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046928	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	181	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Ser	VAR_046928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046928	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	153	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Ser	VAR_046928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046928	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	241	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Ser	VAR_046928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046928	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	258	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asn228Ser	VAR_046928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046928	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	234	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala231Pro	VAR_046929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046929	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	165	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala231Pro	VAR_046929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046929	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	178	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala231Pro	VAR_046929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046929	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	178	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala231Pro	VAR_046929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046929	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	383	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala231Pro	VAR_046929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046929	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	178	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala231Pro	VAR_046929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046929	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	192	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala231Pro	VAR_046929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046929	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	183	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala231Pro	VAR_046929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046929	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	156	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala231Pro	VAR_046929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046929	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	244	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala231Pro	VAR_046929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046929	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	261	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala231Pro	VAR_046929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046929	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	237	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp234Asn	VAR_008071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008071	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	168	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp234Asn	VAR_008071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008071	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	181	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp234Asn	VAR_008071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008071	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	181	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp234Asn	VAR_008071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008071	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	394	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp234Asn	VAR_008071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008071	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	183	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp234Asn	VAR_008071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008071	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	195	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp234Asn	VAR_008071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008071	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	186	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp234Asn	VAR_008071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008071	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	161	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp234Asn	VAR_008071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008071	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	247	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp234Asn	VAR_008071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008071	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	271	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp234Asn	VAR_008071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008071	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	240	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu239Lys	VAR_002182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002182	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	173	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu239Lys	VAR_002182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002182	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	186	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu239Lys	VAR_002182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002182	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	192	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu239Lys	VAR_002182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002182	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	401	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu239Lys	VAR_002182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002182	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	188	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu239Lys	VAR_002182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002182	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	219	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu239Lys	VAR_002182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002182	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	207	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu239Lys	VAR_002182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002182	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	166	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu239Lys	VAR_002182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002182	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	252	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu239Lys	VAR_002182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002182	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	276	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu239Lys	VAR_002182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002182	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	245	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr257Met	VAR_002183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002183	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	202	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr257Met	VAR_002183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002183	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	208	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr257Met	VAR_002183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002183	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	224	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr257Met	VAR_002183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002183	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	471	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr257Met	VAR_002183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002183	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	209	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr257Met	VAR_002183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002183	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	243	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr257Met	VAR_002183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002183	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	231	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr257Met	VAR_002183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002183	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	187	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr257Met	VAR_002183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002183	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	284	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr257Met	VAR_002183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002183	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	301	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr257Met	VAR_002183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002183	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	268	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Met	VAR_008072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008072	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	207	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Met	VAR_008072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008072	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	213	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Met	VAR_008072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008072	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	229	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Met	VAR_008072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008072	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	477	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Met	VAR_008072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008072	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	214	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Met	VAR_008072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008072	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	248	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Met	VAR_008072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008072	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	236	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Met	VAR_008072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008072	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	192	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Met	VAR_008072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008072	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	289	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Met	VAR_008072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008072	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	306	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Met	VAR_008072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008072	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	273	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Arg	VAR_021795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021795	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	207	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Arg	VAR_021795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021795	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	213	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Arg	VAR_021795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021795	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	229	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Arg	VAR_021795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021795	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	477	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Arg	VAR_021795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021795	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	214	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Arg	VAR_021795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021795	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	248	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Arg	VAR_021795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021795	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	236	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Arg	VAR_021795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021795	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	192	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Arg	VAR_021795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021795	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	289	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Arg	VAR_021795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021795	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	306	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr262Arg	VAR_021795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021795	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	273	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Gly	VAR_008073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008073	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	211	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Gly	VAR_008073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008073	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	217	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Gly	VAR_008073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008073	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	233	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Gly	VAR_008073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008073	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	481	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Gly	VAR_008073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008073	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	218	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Gly	VAR_008073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008073	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	252	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Gly	VAR_008073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008073	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	240	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Gly	VAR_008073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008073	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	196	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Gly	VAR_008073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008073	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	293	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Gly	VAR_008073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008073	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	318	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Gly	VAR_008073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008073	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	277	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	VAR_008074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008074	rs28934275 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	211	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	VAR_008074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008074	rs28934275 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	217	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	VAR_008074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008074	rs28934275 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	233	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	VAR_008074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008074	rs28934275 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	481	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	VAR_008074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008074	rs28934275 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	218	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	VAR_008074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008074	rs28934275 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	252	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	VAR_008074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008074	rs28934275 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	240	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	VAR_008074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008074	rs28934275 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	196	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	VAR_008074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008074	rs28934275 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	293	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	VAR_008074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008074	rs28934275 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	318	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg266Lys	VAR_008074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008074	rs28934275 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	277	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys275Tyr	VAR_021796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021796	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	222	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys275Tyr	VAR_021796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021796	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	234	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys275Tyr	VAR_021796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021796	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	259	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys275Tyr	VAR_021796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021796	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	504	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys275Tyr	VAR_021796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021796	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	227	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys275Tyr	VAR_021796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021796	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	274	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys275Tyr	VAR_021796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021796	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	251	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys275Tyr	VAR_021796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021796	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	205	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys275Tyr	VAR_021796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021796	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	319	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys275Tyr	VAR_021796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021796	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	328	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys275Tyr	VAR_021796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021796	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	288	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	VAR_002184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002184	rs5742905 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	225	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	VAR_002184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002184	rs5742905 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	237	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	VAR_002184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002184	rs5742905 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	262	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	VAR_002184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002184	rs5742905 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	511	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	VAR_002184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002184	rs5742905 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	230	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	VAR_002184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002184	rs5742905 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	277	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	VAR_002184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002184	rs5742905 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	254	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	VAR_002184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002184	rs5742905 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	208	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	VAR_002184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002184	rs5742905 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	322	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	VAR_002184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002184	rs5742905 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	331	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile278Thr	VAR_002184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002184	rs5742905 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	291	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Pro	VAR_046932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046932	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	235	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Pro	VAR_046932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046932	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	249	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Pro	VAR_046932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046932	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	281	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Pro	VAR_046932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046932	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	521	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Pro	VAR_046932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046932	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	240	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Pro	VAR_046932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046932	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	287	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Pro	VAR_046932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046932	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	270	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Pro	VAR_046932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046932	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	218	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Pro	VAR_046932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046932	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	332	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Pro	VAR_046932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046932	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	343	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Pro	VAR_046932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046932	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	301	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Thr	VAR_046933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046933	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	235	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Thr	VAR_046933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046933	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	249	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Thr	VAR_046933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046933	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	281	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Thr	VAR_046933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046933	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	521	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Thr	VAR_046933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046933	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	240	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Thr	VAR_046933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046933	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	287	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Thr	VAR_046933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046933	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	270	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Thr	VAR_046933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046933	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	218	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Thr	VAR_046933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046933	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	332	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Thr	VAR_046933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046933	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	343	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala288Thr	VAR_046933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046933	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	301	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro290Leu	VAR_002185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002185	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	249	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro290Leu	VAR_002185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002185	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	258	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro290Leu	VAR_002185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002185	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	283	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro290Leu	VAR_002185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002185	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	523	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro290Leu	VAR_002185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002185	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	242	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro290Leu	VAR_002185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002185	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	289	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro290Leu	VAR_002185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002185	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	276	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro290Leu	VAR_002185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002185	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	220	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro290Leu	VAR_002185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002185	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	334	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro290Leu	VAR_002185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002185	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	345	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro290Leu	VAR_002185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002185	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	303	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu302Lys	VAR_008076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008076	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	261	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu302Lys	VAR_008076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008076	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	270	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu302Lys	VAR_008076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008076	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	297	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu302Lys	VAR_008076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008076	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	585	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu302Lys	VAR_008076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008076	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	254	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu302Lys	VAR_008076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008076	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	304	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu302Lys	VAR_008076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008076	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	295	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu302Lys	VAR_008076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008076	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	232	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu302Lys	VAR_008076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008076	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	346	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu302Lys	VAR_008076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008076	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	367	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Glu302Lys	VAR_008076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008076	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	329	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly305Arg	VAR_008077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008077	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	264	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly305Arg	VAR_008077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008077	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	273	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly305Arg	VAR_008077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008077	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	303	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly305Arg	VAR_008077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008077	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	588	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly305Arg	VAR_008077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008077	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	257	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly305Arg	VAR_008077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008077	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	307	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly305Arg	VAR_008077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008077	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	298	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly305Arg	VAR_008077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008077	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	235	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly305Arg	VAR_008077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008077	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	426	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly305Arg	VAR_008077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008077	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	374	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly305Arg	VAR_008077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008077	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	332	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	VAR_002186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002186	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	266	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	VAR_002186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002186	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	275	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	VAR_002186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002186	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	305	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	VAR_002186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002186	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	590	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	VAR_002186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002186	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	259	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	VAR_002186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002186	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	318	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	VAR_002186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002186	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	300	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	VAR_002186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002186	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	237	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	VAR_002186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002186	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	428	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	VAR_002186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002186	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	376	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly307Ser	VAR_002186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002186	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	334	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val320Ala	VAR_008078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008078	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	290	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val320Ala	VAR_008078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008078	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	286	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val320Ala	VAR_008078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008078	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	317	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val320Ala	VAR_008078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008078	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	603	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val320Ala	VAR_008078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008078	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	271	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val320Ala	VAR_008078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008078	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	351	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val320Ala	VAR_008078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008078	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	316	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val320Ala	VAR_008078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008078	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	248	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val320Ala	VAR_008078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008078	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	441	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val320Ala	VAR_008078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008078	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	391	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val320Ala	VAR_008078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008078	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	352	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Glu	VAR_008079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008079	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	301	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Glu	VAR_008079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008079	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	310	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Glu	VAR_008079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008079	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	331	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Glu	VAR_008079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008079	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	614	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Glu	VAR_008079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008079	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	285	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Glu	VAR_008079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008079	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	362	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Glu	VAR_008079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008079	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	321	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Glu	VAR_008079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008079	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	263	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Glu	VAR_008079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008079	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	459	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Glu	VAR_008079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008079	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	442	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Glu	VAR_008079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008079	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	363	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Val	VAR_002187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002187	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	301	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Val	VAR_002187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002187	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	310	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Val	VAR_002187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002187	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	331	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Val	VAR_002187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002187	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	614	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Val	VAR_002187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002187	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	285	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Val	VAR_002187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002187	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	362	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Val	VAR_002187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002187	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	321	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Val	VAR_002187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002187	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	263	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Val	VAR_002187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002187	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	459	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Val	VAR_002187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002187	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	442	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala331Val	VAR_002187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002187	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	363	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336Cys	VAR_002188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002188	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	306	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336Cys	VAR_002188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002188	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	315	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336Cys	VAR_002188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002188	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	336	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336Cys	VAR_002188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002188	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	619	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336Cys	VAR_002188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002188	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	290	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336Cys	VAR_002188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002188	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	367	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336Cys	VAR_002188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002188	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	326	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336Cys	VAR_002188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002188	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	268	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336Cys	VAR_002188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002188	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	464	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336Cys	VAR_002188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002188	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	447	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336Cys	VAR_002188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002188	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	368	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336His	VAR_008080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008080	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	306	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336His	VAR_008080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008080	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	315	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336His	VAR_008080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008080	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	336	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336His	VAR_008080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008080	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	619	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336His	VAR_008080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008080	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	290	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336His	VAR_008080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008080	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	367	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336His	VAR_008080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008080	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	326	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336His	VAR_008080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008080	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	268	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336His	VAR_008080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008080	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	464	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336His	VAR_008080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008080	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	447	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg336His	VAR_008080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008080	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	368	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu338Pro	VAR_021797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021797	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	308	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu338Pro	VAR_021797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021797	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	317	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu338Pro	VAR_021797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021797	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	338	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu338Pro	VAR_021797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021797	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	621	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu338Pro	VAR_021797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021797	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	292	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu338Pro	VAR_021797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021797	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	369	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu338Pro	VAR_021797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021797	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	328	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu338Pro	VAR_021797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021797	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	270	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu338Pro	VAR_021797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021797	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	466	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu338Pro	VAR_021797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021797	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	449	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu338Pro	VAR_021797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021797	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	370	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly347Ser	VAR_021798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021798	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	317	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly347Ser	VAR_021798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021798	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	327	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly347Ser	VAR_021798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021798	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	347	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly347Ser	VAR_021798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021798	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	645	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly347Ser	VAR_021798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021798	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	305	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly347Ser	VAR_021798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021798	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	378	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly347Ser	VAR_021798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021798	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	342	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly347Ser	VAR_021798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021798	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	284	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly347Ser	VAR_021798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021798	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	480	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly347Ser	VAR_021798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021798	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	462	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gly347Ser	VAR_021798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021798	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	379	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser349Asn	VAR_021799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021799	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	319	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser349Asn	VAR_021799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021799	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	329	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser349Asn	VAR_021799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021799	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	349	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser349Asn	VAR_021799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021799	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	647	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser349Asn	VAR_021799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021799	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	307	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser349Asn	VAR_021799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021799	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	380	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser349Asn	VAR_021799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021799	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	344	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser349Asn	VAR_021799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021799	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	286	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser349Asn	VAR_021799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021799	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	482	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser349Asn	VAR_021799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021799	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	464	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser349Asn	VAR_021799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021799	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	381	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser352Asn	VAR_008081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008081	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	322	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser352Asn	VAR_008081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008081	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	332	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser352Asn	VAR_008081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008081	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	352	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser352Asn	VAR_008081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008081	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	650	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser352Asn	VAR_008081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008081	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	308_G	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser352Asn	VAR_008081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008081	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	383	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser352Asn	VAR_008081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008081	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	347	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser352Asn	VAR_008081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008081	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	289	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser352Asn	VAR_008081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008081	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	486	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser352Asn	VAR_008081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008081	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	467	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser352Asn	VAR_008081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008081	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	384	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	VAR_008082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008082	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	323	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	VAR_008082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008082	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	333	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	VAR_008082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008082	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	353	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	VAR_008082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008082	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	651	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	VAR_008082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008082	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	308_G	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	VAR_008082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008082	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	384	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	VAR_008082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008082	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	348	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	VAR_008082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008082	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	290	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	VAR_008082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008082	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	487	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	VAR_008082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008082	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	468	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr353Met	VAR_008082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008082	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	385	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val354Met	VAR_008083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008083	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	324	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val354Met	VAR_008083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008083	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	334	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val354Met	VAR_008083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008083	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	354	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val354Met	VAR_008083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008083	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	652	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val354Met	VAR_008083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008083	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	309	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val354Met	VAR_008083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008083	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	385	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val354Met	VAR_008083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008083	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	349	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val354Met	VAR_008083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008083	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	291	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val354Met	VAR_008083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008083	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	488	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val354Met	VAR_008083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008083	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	469	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val354Met	VAR_008083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008083	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	386	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala355Pro	VAR_021800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021800	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	325	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala355Pro	VAR_021800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021800	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	335	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala355Pro	VAR_021800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021800	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	355	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala355Pro	VAR_021800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021800	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	653	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala355Pro	VAR_021800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021800	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	310	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala355Pro	VAR_021800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021800	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	386	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala355Pro	VAR_021800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021800	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	350	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala355Pro	VAR_021800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021800	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	292	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala355Pro	VAR_021800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021800	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	489	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala355Pro	VAR_021800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021800	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	470	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala355Pro	VAR_021800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021800	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	387	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala361Thr	VAR_046934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046934	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	331	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala361Thr	VAR_046934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046934	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	341	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala361Thr	VAR_046934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046934	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	361	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala361Thr	VAR_046934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046934	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	660	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala361Thr	VAR_046934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046934	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	316	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala361Thr	VAR_046934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046934	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	392	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala361Thr	VAR_046934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046934	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	356	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala361Thr	VAR_046934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046934	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	298	cd06449	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala361Thr	VAR_046934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046934	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	495	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala361Thr	VAR_046934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046934	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	476	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ala361Thr	VAR_046934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046934	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	393	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg369Cys	VAR_008084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008084	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	342	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg369Cys	VAR_008084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008084	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	355	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg369Cys	VAR_008084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008084	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	377	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg369Cys	VAR_008084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008084	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	676	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg369Cys	VAR_008084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008084	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	326	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg369Cys	VAR_008084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008084	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	403	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg369Cys	VAR_008084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008084	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	370	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg369Cys	VAR_008084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008084	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	535	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg369Cys	VAR_008084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008084	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	486	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg369Cys	VAR_008084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008084	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	438	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg369His	VAR_002189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002189	rs11700812 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	342	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg369His	VAR_002189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002189	rs11700812 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	355	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg369His	VAR_002189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002189	rs11700812 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	377	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg369His	VAR_002189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002189	rs11700812 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	676	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg369His	VAR_002189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002189	rs11700812 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	326	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg369His	VAR_002189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002189	rs11700812 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	403	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg369His	VAR_002189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002189	rs11700812 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	370	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg369His	VAR_002189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002189	rs11700812 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	535	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg369His	VAR_002189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002189	rs11700812 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	486	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg369His	VAR_002189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002189	rs11700812 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	438	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys370Tyr	VAR_008085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008085	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	343	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys370Tyr	VAR_008085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008085	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	356	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys370Tyr	VAR_008085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008085	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	378	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys370Tyr	VAR_008085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008085	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	679	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys370Tyr	VAR_008085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008085	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	327	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys370Tyr	VAR_008085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008085	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	404	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys370Tyr	VAR_008085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008085	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	371	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys370Tyr	VAR_008085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008085	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	536	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys370Tyr	VAR_008085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008085	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	487	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Cys370Tyr	VAR_008085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008085	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	439	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val371Met	VAR_002190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002190	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	344	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val371Met	VAR_002190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002190	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	357	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val371Met	VAR_002190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002190	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	379	cd01562	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val371Met	VAR_002190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002190	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	680	pfam00291	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val371Met	VAR_002190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002190	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	336	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val371Met	VAR_002190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002190	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	405	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val371Met	VAR_002190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002190	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	372	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val371Met	VAR_002190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002190	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	537	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val371Met	VAR_002190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002190	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	488	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val371Met	VAR_002190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002190	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	440	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp376Asn	VAR_046935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046935	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	349	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp376Asn	VAR_046935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046935	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	362	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp376Asn	VAR_046935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046935	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	344_G	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp376Asn	VAR_046935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046935	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	417	cd06446	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp376Asn	VAR_046935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046935	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	383	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp376Asn	VAR_046935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046935	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	542	cd00640	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp376Asn	VAR_046935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046935	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	500	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp376Asn	VAR_046935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046935	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	445	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg379Gln	VAR_021801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021801	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	352	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg379Gln	VAR_021801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021801	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	365	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg379Gln	VAR_021801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021801	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	347	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg379Gln	VAR_021801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021801	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	386	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg379Gln	VAR_021801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021801	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	503	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg379Gln	VAR_021801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021801	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	448	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg379Trp	VAR_046936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046936	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	352	cd01561	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg379Trp	VAR_046936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046936	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	365	cd01563	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg379Trp	VAR_046936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046936	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	347	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg379Trp	VAR_046936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046936	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	386	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg379Trp	VAR_046936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046936	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	503	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg379Trp	VAR_046936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046936	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	448	COG0031	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys384Glu	VAR_002191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002191	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	352	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys384Glu	VAR_002191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002191	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	391	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys384Glu	VAR_002191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002191	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	524	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys384Asn	VAR_008086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008086	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	352	COG2515	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys384Asn	VAR_008086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008086	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	391	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Lys384Asn	VAR_008086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008086	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	524	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met391Ile	VAR_008087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008087	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	401	COG1171	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Met391Ile	VAR_008087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008087	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	531	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	VAR_021802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021802	rs28934892 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	3	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	VAR_021802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021802	rs28934892 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	3	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	VAR_021802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021802	rs28934892 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	3	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	VAR_021802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021802	rs28934892 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	2	smart00116	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	VAR_021802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021802	rs28934892 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	4	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	VAR_021802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021802	rs28934892 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	25	pfam00571	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Pro422Leu	VAR_021802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021802	rs28934892 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	562	COG0498	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr434Asn	VAR_008088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008088	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	15	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr434Asn	VAR_008088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008088	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	15	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr434Asn	VAR_008088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008088	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	18	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr434Asn	VAR_008088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008088	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	14	smart00116	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr434Asn	VAR_008088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008088	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	17	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr434Asn	VAR_008088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008088	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	44	pfam00571	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Thr434Asn	VAR_008088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008088	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	16	cd04600	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile435Thr	VAR_008089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008089	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	16	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile435Thr	VAR_008089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008089	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	16	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile435Thr	VAR_008089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008089	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	19	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile435Thr	VAR_008089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008089	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	15	smart00116	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile435Thr	VAR_008089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008089	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	18	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile435Thr	VAR_008089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008089	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	45	pfam00571	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ile435Thr	VAR_008089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008089	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	17	cd04600	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg439Gln	VAR_008090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008090	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	20	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg439Gln	VAR_008090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008090	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	20	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg439Gln	VAR_008090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008090	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	23	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg439Gln	VAR_008090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008090	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	19	smart00116	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg439Gln	VAR_008090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008090	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	22	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg439Gln	VAR_008090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008090	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	51	pfam00571	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg439Gln	VAR_008090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008090	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	21	cd04600	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	VAR_002192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002192	rs28934891 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	25	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	VAR_002192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002192	rs28934891 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	25	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	VAR_002192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002192	rs28934891 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	38	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	VAR_002192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002192	rs28934891 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	29	smart00116	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	VAR_002192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002192	rs28934891 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	27	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	VAR_002192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002192	rs28934891 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	67	pfam00571	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Asp444Asn	VAR_002192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002192	rs28934891 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	26	cd04600	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val454Glu	VAR_002193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002193	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	43	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val454Glu	VAR_002193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002193	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	35	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val454Glu	VAR_002193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002193	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	60	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val454Glu	VAR_002193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002193	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	62	smart00116	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val454Glu	VAR_002193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002193	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	38	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val454Glu	VAR_002193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002193	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	105	pfam00571	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val454Glu	VAR_002193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002193	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	37	cd04600	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu456Pro	VAR_021803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021803	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	45	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu456Pro	VAR_021803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021803	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	37	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu456Pro	VAR_021803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021803	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	62	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu456Pro	VAR_021803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021803	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	64	smart00116	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu456Pro	VAR_021803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021803	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	40	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu456Pro	VAR_021803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021803	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	107	pfam00571	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu456Pro	VAR_021803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021803	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	39	cd04600	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	VAR_008091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008091	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	55	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	VAR_008091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008091	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	47	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	VAR_008091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008091	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	88	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	VAR_008091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008091	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	74	smart00116	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	VAR_008091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008091	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	50	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	VAR_008091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008091	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	119	pfam00571	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Ser466Leu	VAR_008091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008091	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	49	cd04600	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg491Cys	VAR_008092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008092	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	84	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg491Cys	VAR_008092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008092	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	70	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg491Cys	VAR_008092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008092	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	152	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg491Cys	VAR_008092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008092	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	102	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Arg491Cys	VAR_008092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008092	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	93	cd04600	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gln526Lys	VAR_046937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046937	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	109_G	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gln526Lys	VAR_046937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046937	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	109_G	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gln526Lys	VAR_046937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046937	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	206_G	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gln526Lys	VAR_046937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046937	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	138	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Gln526Lys	VAR_046937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046937	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	121	cd04600	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val534Asp	VAR_008093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008093	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	120	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val534Asp	VAR_008093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008093	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	116	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val534Asp	VAR_008093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008093	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	219	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val534Asp	VAR_008093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008093	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	148	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Val534Asp	VAR_008093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008093	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	128	cd04600	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu539Ser	VAR_002194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002194	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	125	cd04609	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu539Ser	VAR_002194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002194	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	121	cd04584	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu539Ser	VAR_002194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002194	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	229	cd02205	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu539Ser	VAR_002194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002194	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	154	cd04608	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
875	543959	Disease	p.Leu539Ser	VAR_002194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002194	- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	SWISS	133	cd04600	4557415,NP_000062|295821200,NP_001171479|295821202,NP_001171480
84733	77416853	Disease	p.Pro98Leu	VAR_063751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063751	- Gonadal dysgenesis XY complete CBX2-related (GDXYC-CBX2) [MIM:613080]	SWISS	No Domain	N/A	61743963,NP_005180
84733	77416853	Disease	p.Arg443Pro	VAR_063752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063752	- Gonadal dysgenesis XY complete CBX2-related (GDXYC-CBX2) [MIM:613080]	SWISS	No Domain	N/A	61743963,NP_005180
57545	229462975	Disease	p.Pro721Ser	VAR_062804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062804	- Joubert syndrome type 9 (JBTS9) [MIM:612285]	SWISS	No Domain	N/A	197209974,NP_001073991
57545	229462975	Disease	p.Gln1096His	VAR_055321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055321	- Joubert syndrome type 9 (JBTS9) [MIM:612285]	SWISS	No Domain	N/A	197209974,NP_001073991
57545	229462975	Disease	p.Thr1114Met	VAR_062293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062293	- Joubert syndrome type 9 (JBTS9) [MIM:612285]	SWISS	No Domain	N/A	197209974,NP_001073991
57545	229462975	Disease	p.Thr1114Met	VAR_062293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062293	- Meckel syndrome type 6 (MKS6) [MIM:612284]	SWISS	No Domain	N/A	197209974,NP_001073991
57545	229462975	Disease	p.Pro1122Ser	VAR_055322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055322	- Joubert syndrome type 9 (JBTS9) [MIM:612285]	SWISS	No Domain	N/A	197209974,NP_001073991
57545	229462975	Disease	p.Arg1528Cys	VAR_055323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055323	- Joubert syndrome type 9 (JBTS9) [MIM:612285]	SWISS	No Domain	N/A	197209974,NP_001073991
57545	229462975	Disease	p.Leu1551Pro	VAR_055324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055324	- Joubert syndrome type 9 (JBTS9) [MIM:612285]	SWISS	No Domain	N/A	197209974,NP_001073991
57545	229462975	Disease	p.Asp1556Val	VAR_062806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062806	- Joubert syndrome type 9 (JBTS9) [MIM:612285]	SWISS	No Domain	N/A	197209974,NP_001073991
147372	74738220	Disease	p.Cys75Ser	VAR_063746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063746	- Hennekam lymphangiectasia-lymphedema syndrome (HLYLMP) [MIM:235510]	SWISS	No Domain	N/A	39930511,NP_597716
147372	74738220	Disease	p.Cys102Ser	VAR_063747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063747	- Hennekam lymphangiectasia-lymphedema syndrome (HLYLMP) [MIM:235510]	SWISS	No Domain	N/A	39930511,NP_597716
147372	74738220	Disease	p.Arg158Cys	VAR_063748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063748	- Hennekam lymphangiectasia-lymphedema syndrome (HLYLMP) [MIM:235510]	SWISS	50	cd00053	39930511,NP_597716
147372	74738220	Disease	p.Arg158Cys	VAR_063748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063748	- Hennekam lymphangiectasia-lymphedema syndrome (HLYLMP) [MIM:235510]	SWISS	49	smart00181	39930511,NP_597716
147372	74738220	Disease	p.Arg158Cys	VAR_063748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063748	- Hennekam lymphangiectasia-lymphedema syndrome (HLYLMP) [MIM:235510]	SWISS	31	pfam07645	39930511,NP_597716
147372	74738220	Disease	p.Arg158Cys	VAR_063748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063748	- Hennekam lymphangiectasia-lymphedema syndrome (HLYLMP) [MIM:235510]	SWISS	47	smart00179	39930511,NP_597716
147372	74738220	Disease	p.Arg158Cys	VAR_063748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063748	- Hennekam lymphangiectasia-lymphedema syndrome (HLYLMP) [MIM:235510]	SWISS	52	cd00054	39930511,NP_597716
147372	74738220	Disease	p.Cys174Arg	VAR_063749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063749	- Hennekam lymphangiectasia-lymphedema syndrome (HLYLMP) [MIM:235510]	SWISS	85	cd00053	39930511,NP_597716
147372	74738220	Disease	p.Cys174Arg	VAR_063749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063749	- Hennekam lymphangiectasia-lymphedema syndrome (HLYLMP) [MIM:235510]	SWISS	82	smart00181	39930511,NP_597716
147372	74738220	Disease	p.Cys174Arg	VAR_063749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063749	- Hennekam lymphangiectasia-lymphedema syndrome (HLYLMP) [MIM:235510]	SWISS	83	smart00179	39930511,NP_597716
147372	74738220	Disease	p.Cys174Arg	VAR_063749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063749	- Hennekam lymphangiectasia-lymphedema syndrome (HLYLMP) [MIM:235510]	SWISS	89	cd00054	39930511,NP_597716
147372	74738220	Disease	p.Gly327Arg	VAR_063750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063750	- Hennekam lymphangiectasia-lymphedema syndrome (HLYLMP) [MIM:235510]	SWISS	No Domain	N/A	39930511,NP_597716
83605	74733042	Disease	p.Leu198Arg	VAR_023577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023577	- Cerebral cavernous malformations type 2 (CCM2) [MIM:603284]	SWISS	321	smart00462	13899275,NP_113631
22948	1351211	Disease	p.His147Arg	VAR_030658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030658	- Hereditary sensory neuropathy autosomal recessive with spastic paraplegia (HSNSP) [MIM:256840]	SWISS	134	cd00309	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	VAR_030658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030658	- Hereditary sensory neuropathy autosomal recessive with spastic paraplegia (HSNSP) [MIM:256840]	SWISS	123	cd03338	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	VAR_030658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030658	- Hereditary sensory neuropathy autosomal recessive with spastic paraplegia (HSNSP) [MIM:256840]	SWISS	130	cd03344	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	VAR_030658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030658	- Hereditary sensory neuropathy autosomal recessive with spastic paraplegia (HSNSP) [MIM:256840]	SWISS	124	cd03341	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	VAR_030658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030658	- Hereditary sensory neuropathy autosomal recessive with spastic paraplegia (HSNSP) [MIM:256840]	SWISS	123	cd03335	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	VAR_030658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030658	- Hereditary sensory neuropathy autosomal recessive with spastic paraplegia (HSNSP) [MIM:256840]	SWISS	133	cd03340	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	VAR_030658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030658	- Hereditary sensory neuropathy autosomal recessive with spastic paraplegia (HSNSP) [MIM:256840]	SWISS	159	COG0459	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	VAR_030658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030658	- Hereditary sensory neuropathy autosomal recessive with spastic paraplegia (HSNSP) [MIM:256840]	SWISS	135	cd03336	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	VAR_030658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030658	- Hereditary sensory neuropathy autosomal recessive with spastic paraplegia (HSNSP) [MIM:256840]	SWISS	128	cd03342	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	VAR_030658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030658	- Hereditary sensory neuropathy autosomal recessive with spastic paraplegia (HSNSP) [MIM:256840]	SWISS	141	cd03339	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	VAR_030658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030658	- Hereditary sensory neuropathy autosomal recessive with spastic paraplegia (HSNSP) [MIM:256840]	SWISS	132	cd03337	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	VAR_030658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030658	- Hereditary sensory neuropathy autosomal recessive with spastic paraplegia (HSNSP) [MIM:256840]	SWISS	130	cd03343	24307939,NP_036205
22948	1351211	Disease	p.His147Arg	VAR_030658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030658	- Hereditary sensory neuropathy autosomal recessive with spastic paraplegia (HSNSP) [MIM:256840]	SWISS	126	pfam00118	24307939,NP_036205
948	115982	Disease	p.Pro90Ser	VAR_017913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017913	rs3765187 Platelet glycoprotein IV deficiency [MIM:608404]	SWISS	108	pfam01130	188536063,NP_001120915|48375178,NP_000063|188536065,NP_001120916|48375180,NP_001001548|48375176,NP_001001547
948	115982	Disease	p.Phe254Leu	VAR_017917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017917	- Platelet glycoprotein IV deficiency [MIM:608404]	SWISS	470	pfam01130	188536063,NP_001120915|48375178,NP_000063|188536065,NP_001120916|48375180,NP_001001548|48375176,NP_001001547
948	115982	Disease	p.Ile413Leu	VAR_017919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017919	- Platelet glycoprotein IV deficiency [MIM:608404]	SWISS	750	pfam01130	188536063,NP_001120915|48375178,NP_000063|188536065,NP_001120916|48375180,NP_001001548|48375176,NP_001001547
958	116000	Disease	p.Cys83Arg	VAR_013628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013628	rs28931586 Hyper-IgM immunodeficiency syndrome type 3 (HIGM3) [MIM:606843]	SWISS	70	cd00185	4507581,NP_001241
958	116000	Disease	p.Cys83Arg	VAR_013628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013628	rs28931586 Hyper-IgM immunodeficiency syndrome type 3 (HIGM3) [MIM:606843]	SWISS	28	smart00208	4507581,NP_001241
959	231718	Disease	p.Met36Arg	VAR_007513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007513	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	No Domain	N/A	4557433,NP_000065
959	231718	Disease	p.Gly38Arg	VAR_017925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017925	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	No Domain	N/A	4557433,NP_000065
959	231718	Disease	p.Gly116Arg	VAR_017929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017929	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	No Domain	N/A	4557433,NP_000065
959	231718	Disease	p.Gly116Ser	VAR_017930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017930	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	No Domain	N/A	4557433,NP_000065
959	231718	Disease	p.Ala123Glu	VAR_007514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007514	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	2	cd00184	4557433,NP_000065
959	231718	Disease	p.His125Arg	VAR_017926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017926	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	4	cd00184	4557433,NP_000065
959	231718	Disease	p.Val126Ala	VAR_007515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007515	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	5	cd00184	4557433,NP_000065
959	231718	Disease	p.Val126Asp	VAR_017931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017931	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	5	cd00184	4557433,NP_000065
959	231718	Disease	p.Trp140Cys	VAR_007517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007517	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	3	pfam00229	4557433,NP_000065
959	231718	Disease	p.Trp140Cys	VAR_007517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007517	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	3	smart00207	4557433,NP_000065
959	231718	Disease	p.Trp140Cys	VAR_007517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007517	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	38	cd00184	4557433,NP_000065
959	231718	Disease	p.Trp140Gly	VAR_007518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007518	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	3	pfam00229	4557433,NP_000065
959	231718	Disease	p.Trp140Gly	VAR_007518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007518	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	3	smart00207	4557433,NP_000065
959	231718	Disease	p.Trp140Gly	VAR_007518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007518	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	38	cd00184	4557433,NP_000065
959	231718	Disease	p.Trp140Arg	VAR_007519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007519	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	3	pfam00229	4557433,NP_000065
959	231718	Disease	p.Trp140Arg	VAR_007519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007519	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	3	smart00207	4557433,NP_000065
959	231718	Disease	p.Trp140Arg	VAR_007519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007519	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	38	cd00184	4557433,NP_000065
959	231718	Disease	p.Lys143Thr	VAR_017932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017932	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	6	pfam00229	4557433,NP_000065
959	231718	Disease	p.Lys143Thr	VAR_017932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017932	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	6	smart00207	4557433,NP_000065
959	231718	Disease	p.Lys143Thr	VAR_017932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017932	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	41	cd00184	4557433,NP_000065
959	231718	Disease	p.Gly144Glu	VAR_007520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007520	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	7	pfam00229	4557433,NP_000065
959	231718	Disease	p.Gly144Glu	VAR_007520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007520	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	7	smart00207	4557433,NP_000065
959	231718	Disease	p.Gly144Glu	VAR_007520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007520	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	45	cd00184	4557433,NP_000065
959	231718	Disease	p.Thr147Asn	VAR_017922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017922	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	10	pfam00229	4557433,NP_000065
959	231718	Disease	p.Thr147Asn	VAR_017922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017922	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	10	smart00207	4557433,NP_000065
959	231718	Disease	p.Thr147Asn	VAR_017922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017922	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	48	cd00184	4557433,NP_000065
959	231718	Disease	p.Leu155Pro	VAR_007521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007521	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	20	pfam00229	4557433,NP_000065
959	231718	Disease	p.Leu155Pro	VAR_007521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007521	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	22	smart00207	4557433,NP_000065
959	231718	Disease	p.Leu155Pro	VAR_007521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007521	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	57	cd00184	4557433,NP_000065
959	231718	Disease	p.Tyr170Cys	VAR_017923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017923	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	36	pfam00229	4557433,NP_000065
959	231718	Disease	p.Tyr170Cys	VAR_017923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017923	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	40	smart00207	4557433,NP_000065
959	231718	Disease	p.Tyr170Cys	VAR_017923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017923	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	73	cd00184	4557433,NP_000065
959	231718	Disease	p.Ala173Asp	VAR_017933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017933	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	39	pfam00229	4557433,NP_000065
959	231718	Disease	p.Ala173Asp	VAR_017933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017933	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	43	smart00207	4557433,NP_000065
959	231718	Disease	p.Ala173Asp	VAR_017933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017933	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	76	cd00184	4557433,NP_000065
959	231718	Disease	p.Gln174Arg	VAR_017927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017927	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	40	pfam00229	4557433,NP_000065
959	231718	Disease	p.Gln174Arg	VAR_017927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017927	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	44	smart00207	4557433,NP_000065
959	231718	Disease	p.Gln174Arg	VAR_017927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017927	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	77	cd00184	4557433,NP_000065
959	231718	Disease	p.Thr176Ile	VAR_017934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017934	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	42	pfam00229	4557433,NP_000065
959	231718	Disease	p.Thr176Ile	VAR_017934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017934	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	46	smart00207	4557433,NP_000065
959	231718	Disease	p.Thr176Ile	VAR_017934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017934	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	79	cd00184	4557433,NP_000065
959	231718	Disease	p.Leu195Pro	VAR_017935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017935	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	79	pfam00229	4557433,NP_000065
959	231718	Disease	p.Leu195Pro	VAR_017935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017935	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	71	smart00207	4557433,NP_000065
959	231718	Disease	p.Leu195Pro	VAR_017935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017935	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	110	cd00184	4557433,NP_000065
959	231718	Disease	p.Ala208Asp	VAR_017936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017936	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	97	pfam00229	4557433,NP_000065
959	231718	Disease	p.Ala208Asp	VAR_017936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017936	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	89	smart00207	4557433,NP_000065
959	231718	Disease	p.Ala208Asp	VAR_017936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017936	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	128	cd00184	4557433,NP_000065
959	231718	Disease	p.Thr211Asn	VAR_007522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007522	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	100	pfam00229	4557433,NP_000065
959	231718	Disease	p.Thr211Asn	VAR_007522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007522	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	96	smart00207	4557433,NP_000065
959	231718	Disease	p.Thr211Asn	VAR_007522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007522	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	131	cd00184	4557433,NP_000065
959	231718	Disease	p.His224Tyr	VAR_017937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017937	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	123	pfam00229	4557433,NP_000065
959	231718	Disease	p.His224Tyr	VAR_017937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017937	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	134	smart00207	4557433,NP_000065
959	231718	Disease	p.His224Tyr	VAR_017937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017937	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	153	cd00184	4557433,NP_000065
959	231718	Disease	p.Gly226Ala	VAR_017938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017938	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	125	pfam00229	4557433,NP_000065
959	231718	Disease	p.Gly226Ala	VAR_017938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017938	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	136	smart00207	4557433,NP_000065
959	231718	Disease	p.Gly226Ala	VAR_017938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017938	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	155	cd00184	4557433,NP_000065
959	231718	Disease	p.Gly227Val	VAR_007524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007524	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	126	pfam00229	4557433,NP_000065
959	231718	Disease	p.Gly227Val	VAR_007524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007524	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	138	smart00207	4557433,NP_000065
959	231718	Disease	p.Gly227Val	VAR_007524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007524	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	156	cd00184	4557433,NP_000065
959	231718	Disease	p.Leu231Ser	VAR_007526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007526	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	130	pfam00229	4557433,NP_000065
959	231718	Disease	p.Leu231Ser	VAR_007526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007526	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	142	smart00207	4557433,NP_000065
959	231718	Disease	p.Leu231Ser	VAR_007526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007526	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	161	cd00184	4557433,NP_000065
959	231718	Disease	p.Ala235Pro	VAR_007527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007527	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	134	pfam00229	4557433,NP_000065
959	231718	Disease	p.Ala235Pro	VAR_007527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007527	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	146	smart00207	4557433,NP_000065
959	231718	Disease	p.Ala235Pro	VAR_007527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007527	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	165	cd00184	4557433,NP_000065
959	231718	Disease	p.Val237Glu	VAR_017939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017939	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	136	pfam00229	4557433,NP_000065
959	231718	Disease	p.Val237Glu	VAR_017939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017939	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	148	smart00207	4557433,NP_000065
959	231718	Disease	p.Val237Glu	VAR_017939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017939	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	167	cd00184	4557433,NP_000065
959	231718	Disease	p.Thr254Met	VAR_007528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007528	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	159	pfam00229	4557433,NP_000065
959	231718	Disease	p.Thr254Met	VAR_007528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007528	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	176	smart00207	4557433,NP_000065
959	231718	Disease	p.Thr254Met	VAR_007528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007528	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	199	cd00184	4557433,NP_000065
959	231718	Disease	p.Gly257Asp	VAR_017940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017940	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	162	pfam00229	4557433,NP_000065
959	231718	Disease	p.Gly257Asp	VAR_017940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017940	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	179	smart00207	4557433,NP_000065
959	231718	Disease	p.Gly257Asp	VAR_017940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017940	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	202	cd00184	4557433,NP_000065
959	231718	Disease	p.Gly257Ser	VAR_017928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017928	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	162	pfam00229	4557433,NP_000065
959	231718	Disease	p.Gly257Ser	VAR_017928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017928	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	179	smart00207	4557433,NP_000065
959	231718	Disease	p.Gly257Ser	VAR_017928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017928	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	202	cd00184	4557433,NP_000065
959	231718	Disease	p.Leu258Ser	VAR_017924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017924	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	163	pfam00229	4557433,NP_000065
959	231718	Disease	p.Leu258Ser	VAR_017924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017924	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	180	smart00207	4557433,NP_000065
959	231718	Disease	p.Leu258Ser	VAR_017924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017924	- X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]	SWISS	203	cd00184	4557433,NP_000065
4179	41019474	Disease	p.Cys35Tyr	VAR_063656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063656	- Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]	SWISS	No Domain	N/A	27502402,NP_002380
4179	41019474	Disease	p.Pro165Ser	VAR_026569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026569	- Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]	SWISS	4	cd00033	27502402,NP_002380
4179	41019474	Disease	p.Pro165Ser	VAR_026569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026569	- Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]	SWISS	4	smart00032	27502402,NP_002380
4179	41019474	Disease	p.Pro165Ser	VAR_026569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026569	- Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]	SWISS	7	pfam00084	27502402,NP_002380
4179	41019474	Disease	p.Trp216Cys	VAR_063657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063657	- Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]	SWISS	84	cd00033	27502402,NP_002380
4179	41019474	Disease	p.Trp216Cys	VAR_063657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063657	- Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]	SWISS	105	smart00032	27502402,NP_002380
4179	41019474	Disease	p.Trp216Cys	VAR_063657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063657	- Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]	SWISS	84	pfam00084	27502402,NP_002380
4179	41019474	Disease	p.Pro231Arg	VAR_063658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063658	- Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]	SWISS	4	smart00032	27502402,NP_002380
4179	41019474	Disease	p.Pro231Arg	VAR_063658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063658	- Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]	SWISS	15	pfam00084	27502402,NP_002380
4179	41019474	Disease	p.Pro231Arg	VAR_063658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063658	- Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]	SWISS	4	cd00033	27502402,NP_002380
4179	41019474	Disease	p.Ser240Pro	VAR_026570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026570	- Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]	SWISS	21	smart00032	27502402,NP_002380
4179	41019474	Disease	p.Ser240Pro	VAR_026570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026570	- Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]	SWISS	28	pfam00084	27502402,NP_002380
4179	41019474	Disease	p.Ser240Pro	VAR_026570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026570	- Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]	SWISS	22	cd00033	27502402,NP_002380
925	116035	Disease	p.Gly111Ser	VAR_021020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021020	- Familial CD8 deficiency (CD8 deficiency) [MIM:608957]	SWISS	124	smart00406	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly111Ser	VAR_021020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021020	- Familial CD8 deficiency (CD8 deficiency) [MIM:608957]	SWISS	196	smart00409	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly111Ser	VAR_021020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021020	- Familial CD8 deficiency (CD8 deficiency) [MIM:608957]	SWISS	196	smart00410	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly111Ser	VAR_021020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021020	- Familial CD8 deficiency (CD8 deficiency) [MIM:608957]	SWISS	121	cd00096	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly111Ser	VAR_021020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021020	- Familial CD8 deficiency (CD8 deficiency) [MIM:608957]	SWISS	108	pfam07686	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly111Ser	VAR_021020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021020	- Familial CD8 deficiency (CD8 deficiency) [MIM:608957]	SWISS	92	cd04982	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly111Ser	VAR_021020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021020	- Familial CD8 deficiency (CD8 deficiency) [MIM:608957]	SWISS	97	cd00099	225007536,NP_001139345|22902134,NP_001759
925	116035	Disease	p.Gly111Ser	VAR_021020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021020	- Familial CD8 deficiency (CD8 deficiency) [MIM:608957]	SWISS	89	cd05720	225007536,NP_001139345|22902134,NP_001759
10225	161784352	Disease	p.Thr280Met	VAR_037578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037578	- C-like syndrome [MIM:605039]	SWISS	No Domain	N/A	38683840,NP_937839
146059	296439465	Disease	p.Asn599Ser	VAR_017218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017218	- Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]	SWISS	No Domain	N/A	57222570,NP_612486
146059	296439465	Disease	p.Pro672Leu	VAR_017219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017219	- Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]	SWISS	No Domain	N/A	57222570,NP_612486
146059	296439465	Disease	p.Glu698Lys	VAR_017220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017220	- Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]	SWISS	No Domain	N/A	57222570,NP_612486
146059	296439465	Disease	p.Arg714Trp	VAR_017221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017221	- Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]	SWISS	No Domain	N/A	57222570,NP_612486
146059	296439465	Disease	p.Phe868Ile	VAR_017222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017222	- Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]	SWISS	No Domain	N/A	57222570,NP_612486
146059	296439465	Disease	p.Val869Met	VAR_017223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017223	- Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]	SWISS	No Domain	N/A	57222570,NP_612486
146059	296439465	Disease	p.Arg1042Trp	VAR_017224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017224	- Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]	SWISS	No Domain	N/A	57222570,NP_612486
146059	296439465	Disease	p.Asp1043Val	VAR_017225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017225	- Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]	SWISS	No Domain	N/A	57222570,NP_612486
146059	296439465	Disease	p.Pro1130Leu	VAR_017226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017226	- Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]	SWISS	No Domain	N/A	57222570,NP_612486
79577	74749063	Disease	p.Leu64Pro	VAR_024082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024082	- Familial isolated hyperparathyroidism (FIHP) [MIM:145000]	SWISS	No Domain	N/A	40018640,NP_078805
1013	1705553	Disease	p.Val8Leu	VAR_054966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054966	- Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580]	SWISS	No Domain	N/A	4826669,NP_004924
1013	1705553	Disease	p.Arg60Cys	VAR_054967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054967	- Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580]	SWISS	15	pfam00028	4826669,NP_004924
1013	1705553	Disease	p.Arg60Cys	VAR_054967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054967	- Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580]	SWISS	12	cd00031	4826669,NP_004924
1013	1705553	Disease	p.Arg92Trp	VAR_054968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054968	- Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580]	SWISS	50	pfam00028	4826669,NP_004924
1013	1705553	Disease	p.Arg92Trp	VAR_054968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054968	- Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580]	SWISS	41	smart00112	4826669,NP_004924
1013	1705553	Disease	p.Arg92Trp	VAR_054968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054968	- Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580]	SWISS	72	cd00031	4826669,NP_004924
1013	1705553	Disease	p.Ala122Val	VAR_054969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054969	- Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580]	SWISS	99	pfam00028	4826669,NP_004924
1013	1705553	Disease	p.Ala122Val	VAR_054969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054969	- Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580]	SWISS	93	smart00112	4826669,NP_004924
1013	1705553	Disease	p.Ala122Val	VAR_054969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054969	- Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580]	SWISS	130	cd00031	4826669,NP_004924
64072	17366834	Disease	p.Asp124Gly	VAR_027317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027317	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	151	smart00112	NULL
64072	17366834	Disease	p.Asp124Gly	VAR_027317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027317	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	169	cd00031	NULL
64072	17366834	Disease	p.Pro240Leu	VAR_046404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046404	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	No Domain	N/A	NULL
64072	17366834	Disease	p.Glu247Lys	VAR_027318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027318	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	7	pfam00028	NULL
64072	17366834	Disease	p.Arg301Gln	VAR_046405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046405	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	74	smart00112	NULL
64072	17366834	Disease	p.Arg301Gln	VAR_046405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046405	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	80	pfam00028	NULL
64072	17366834	Disease	p.Ala366Thr	VAR_024030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024030	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	15	pfam00028	NULL
64072	17366834	Disease	p.Ala366Thr	VAR_024030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024030	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	19	cd00031	NULL
64072	17366834	Disease	p.Asn452Ser	VAR_027319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027319	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	151	smart00112	NULL
64072	17366834	Disease	p.Asn452Ser	VAR_027319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027319	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	169	cd00031	NULL
64072	17366834	Disease	p.Leu480Gln	VAR_027320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027320	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	18	pfam00028	NULL
64072	17366834	Disease	p.Leu480Gln	VAR_027320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027320	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	217	cd00031	NULL
64072	17366834	Disease	p.Ala484Pro	VAR_027321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027321	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	22	pfam00028	NULL
64072	17366834	Disease	p.Ala484Pro	VAR_027321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027321	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	232	cd00031	NULL
64072	17366834	Disease	p.Arg582Gln	VAR_027322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027322	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	23	cd00031	NULL
64072	17366834	Disease	p.Arg582Gln	VAR_027322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027322	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	19	pfam00028	NULL
64072	17366834	Disease	p.His755Tyr	VAR_046407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046407	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	346	cd00031	NULL
64072	17366834	Disease	p.His755Tyr	VAR_046407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046407	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	102	smart00112	NULL
64072	17366834	Disease	p.His755Tyr	VAR_046407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046407	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	115	pfam00028	NULL
64072	17366834	Disease	p.Asp990Asn	VAR_012169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012169	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	154	smart00112	NULL
64072	17366834	Disease	p.Arg1060Trp	VAR_027323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027323	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	74	smart00112	NULL
64072	17366834	Disease	p.Arg1060Trp	VAR_027323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027323	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	111	cd00031	NULL
64072	17366834	Disease	p.Arg1060Trp	VAR_027323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027323	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	80	pfam00028	NULL
64072	17366834	Disease	p.Val1090Ile	VAR_046410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046410	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	147	smart00112	NULL
64072	17366834	Disease	p.Val1090Ile	VAR_046410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046410	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	165	cd00031	NULL
64072	17366834	Disease	p.Val1090Ile	VAR_046410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046410	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	128	pfam00028	NULL
64072	17366834	Disease	p.Asn1098Ser	VAR_046411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046411	rs41281310 Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	155	smart00112	NULL
64072	17366834	Disease	p.Asn1098Ser	VAR_046411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046411	rs41281310 Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	175	cd00031	NULL
64072	17366834	Disease	p.Gly1186Asp	VAR_027324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027324	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	352	cd00031	NULL
64072	17366834	Disease	p.Gly1186Asp	VAR_027324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027324	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	116	pfam00028	NULL
64072	17366834	Disease	p.Gly1186Asp	VAR_027324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027324	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	101	smart00112	NULL
64072	17366834	Disease	p.Pro1206Arg	VAR_027325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027325	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	No Domain	N/A	NULL
64072	17366834	Disease	p.Thr1209Ala	VAR_024031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024031	rs41281314 Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	No Domain	N/A	NULL
64072	17366834	Disease	p.Asp1341Asn	VAR_027326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027326	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	4	smart00112	NULL
64072	17366834	Disease	p.Asp1341Asn	VAR_027326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027326	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	236	cd00031	NULL
64072	17366834	Disease	p.Asp1341Asn	VAR_027326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027326	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	26	pfam00028	NULL
64072	17366834	Disease	p.Gln1496His	VAR_012174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012174	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	129	cd00031	NULL
64072	17366834	Disease	p.Gln1496His	VAR_012174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012174	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	92	smart00112	NULL
64072	17366834	Disease	p.Gln1496His	VAR_012174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012174	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	98	pfam00028	NULL
64072	17366834	Disease	p.Arg1507Gln	VAR_024032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024032	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	149	cd00031	NULL
64072	17366834	Disease	p.Arg1507Gln	VAR_024032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024032	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	139	smart00112	NULL
64072	17366834	Disease	p.Arg1507Gln	VAR_024032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024032	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	118	pfam00028	NULL
64072	17366834	Disease	p.Ala1586Pro	VAR_027328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027328	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	298	cd00031	NULL
64072	17366834	Disease	p.Ala1586Pro	VAR_027328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027328	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	65	smart00112	NULL
64072	17366834	Disease	p.Ala1586Pro	VAR_027328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027328	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	71	pfam00028	NULL
64072	17366834	Disease	p.Glu1595Lys	VAR_027329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027329	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	315	cd00031	NULL
64072	17366834	Disease	p.Glu1595Lys	VAR_027329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027329	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	75	smart00112	NULL
64072	17366834	Disease	p.Glu1595Lys	VAR_027329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027329	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	81	pfam00028	NULL
64072	17366834	Disease	p.Gln1716Pro	VAR_046418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046418	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	104	pfam00028	NULL
64072	17366834	Disease	p.Gln1716Pro	VAR_046418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046418	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	135	cd00031	NULL
64072	17366834	Disease	p.Gln1716Pro	VAR_046418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046418	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	98	smart00112	NULL
64072	17366834	Disease	p.Arg1746Gln	VAR_012178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012178	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	188	cd00031	NULL
64072	17366834	Disease	p.Pro1788Leu	VAR_046419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046419	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	28	smart00112	NULL
64072	17366834	Disease	p.Pro1788Leu	VAR_046419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046419	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	45	pfam00028	NULL
64072	17366834	Disease	p.Pro1788Leu	VAR_046419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046419	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	259	cd00031	NULL
64072	17366834	Disease	p.Asp1846Asn	VAR_027331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027331	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	154	smart00112	NULL
64072	17366834	Disease	p.Phe1888Ser	VAR_027333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027333	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	38	pfam00028	NULL
64072	17366834	Disease	p.Phe1888Ser	VAR_027333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027333	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	52	cd00031	NULL
64072	17366834	Disease	p.Phe1888Ser	VAR_027333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027333	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	21	smart00112	NULL
64072	17366834	Disease	p.Arg1912Trp	VAR_046423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046423	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	74	pfam00028	NULL
64072	17366834	Disease	p.Arg1912Trp	VAR_046423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046423	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	96	cd00031	NULL
64072	17366834	Disease	p.Arg1912Trp	VAR_046423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046423	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	68	smart00112	NULL
64072	17366834	Disease	p.Asp1930Asn	VAR_046424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046424	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	103	pfam00028	NULL
64072	17366834	Disease	p.Asp1930Asn	VAR_046424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046424	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	134	cd00031	NULL
64072	17366834	Disease	p.Asp1930Asn	VAR_046424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046424	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	97	smart00112	NULL
64072	17366834	Disease	p.Gly2017Ser	VAR_027334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027334	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	60	pfam00028	NULL
64072	17366834	Disease	p.Gly2017Ser	VAR_027334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027334	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	51	smart00112	NULL
64072	17366834	Disease	p.Gly2017Ser	VAR_027334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027334	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	295	cd00031	NULL
64072	17366834	Disease	p.Arg2029Trp	VAR_046425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046425	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	80	pfam00028	NULL
64072	17366834	Disease	p.Arg2029Trp	VAR_046425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046425	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	74	smart00112	NULL
64072	17366834	Disease	p.Arg2029Trp	VAR_046425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046425	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	314	cd00031	NULL
64072	17366834	Disease	p.Asp2045Asn	VAR_012182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012182	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	103	pfam00028	NULL
64072	17366834	Disease	p.Asp2045Asn	VAR_012182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012182	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	97	smart00112	NULL
64072	17366834	Disease	p.Asp2045Asn	VAR_012182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012182	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	341	cd00031	NULL
64072	17366834	Disease	p.Asp2148Asn	VAR_027336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027336	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	103	pfam00028	NULL
64072	17366834	Disease	p.Asp2148Asn	VAR_027336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027336	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	134	cd00031	NULL
64072	17366834	Disease	p.Asp2148Asn	VAR_027336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027336	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	97	smart00112	NULL
64072	17366834	Disease	p.Asp2202Asn	VAR_012183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012183	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	4	smart00112	NULL
64072	17366834	Disease	p.Asp2202Asn	VAR_012183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012183	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	26	pfam00028	NULL
64072	17366834	Disease	p.Asp2202Asn	VAR_012183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012183	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	236	cd00031	NULL
64072	17366834	Disease	p.Asp2376Val	VAR_046429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046429	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	97	smart00112	NULL
64072	17366834	Disease	p.Asp2376Val	VAR_046429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046429	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	103	pfam00028	NULL
64072	17366834	Disease	p.Asp2376Val	VAR_046429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046429	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	134	cd00031	NULL
64072	17366834	Disease	p.Arg2465Trp	VAR_027339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027339	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	314	cd00031	NULL
64072	17366834	Disease	p.Arg2465Trp	VAR_027339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027339	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	80	pfam00028	NULL
64072	17366834	Disease	p.Arg2465Trp	VAR_027339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027339	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	74	smart00112	NULL
64072	17366834	Disease	p.Ser2517Gly	VAR_027340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027340	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	4	pfam00028	NULL
64072	17366834	Disease	p.Ser2517Gly	VAR_027340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027340	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	5	cd00031	NULL
64072	17366834	Disease	p.Thr2530Ile	VAR_046432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046432	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	19	pfam00028	NULL
64072	17366834	Disease	p.Thr2530Ile	VAR_046432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046432	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	23	cd00031	NULL
64072	17366834	Disease	p.Arg2608His	VAR_027341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027341	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	156	smart00112	NULL
64072	17366834	Disease	p.Arg2608His	VAR_027341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027341	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	176	cd00031	NULL
64072	17366834	Disease	p.Gly2744Ser	VAR_027342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027342	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	14	pfam00028	NULL
64072	17366834	Disease	p.Gly2744Ser	VAR_027342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027342	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	18	cd00031	NULL
64072	17366834	Disease	p.Gly2771Ser	VAR_046434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046434	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	26	smart00112	NULL
64072	17366834	Disease	p.Gly2771Ser	VAR_046434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046434	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	43	pfam00028	NULL
64072	17366834	Disease	p.Gly2771Ser	VAR_046434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046434	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	57	cd00031	NULL
64072	17366834	Disease	p.Arg2833Gly	VAR_027343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027343	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	146	smart00112	NULL
64072	17366834	Disease	p.Arg2833Gly	VAR_027343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027343	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	164	cd00031	NULL
64072	17366834	Disease	p.Ile2950Asn	VAR_012187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012187	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	364	cd00031	NULL
64072	17366834	Disease	p.Arg2956Cys	VAR_012188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012188	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	No Domain	N/A	NULL
64072	17366834	Disease	p.Val2968Ala	VAR_046437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046437	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	No Domain	N/A	NULL
64072	17366834	Disease	p.Pro3059Thr	VAR_012189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012189	- Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]	SWISS	No Domain	N/A	NULL
64072	17366834	Disease	p.Arg3175His	VAR_027347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027347	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	No Domain	N/A	NULL
64072	17366834	Disease	p.Arg3189Trp	VAR_024033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024033	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	No Domain	N/A	NULL
64072	17366834	Disease	p.Arg3189Trp	VAR_024033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024033	- Usher syndrome type 1D/F (USH1DF) [MIM:601067]	SWISS	No Domain	N/A	NULL
64072	17366834	Disease	p.Ser3245Phe	VAR_024034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024034	- Usher syndrome type 1D (USH1D) [MIM:601067]	SWISS	No Domain	N/A	NULL
1001	146345382	Disease	p.Asn322Ile	VAR_033010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033010	- Ectodermal dysplasia with ectrodactyly and macular dystrophy (EEM) [MIM:225280]	SWISS	153	smart00112	14589891,NP_001784
1001	146345382	Disease	p.Arg503His	VAR_015422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015422	- Hypotrichosis with juvenile macular dystrophy (HJMD) [MIM:601553]	SWISS	314	cd00031	14589891,NP_001784
1001	146345382	Disease	p.Arg503His	VAR_015422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015422	- Hypotrichosis with juvenile macular dystrophy (HJMD) [MIM:601553]	SWISS	74	smart00112	14589891,NP_001784
1001	146345382	Disease	p.Arg503His	VAR_015422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015422	- Hypotrichosis with juvenile macular dystrophy (HJMD) [MIM:601553]	SWISS	80	pfam00028	14589891,NP_001784
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	38	cd05063	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd06617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	32	cd06621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	43	cd06609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	77	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	34	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	37	cd05574	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	51	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	34	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	31	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	31	cd06653	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	38	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	31	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	75	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	32	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	31	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	34	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	48	cd05053	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	34	cd05034	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	39	cd05038	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	55	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	196	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	31	cd06652	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd06917	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd05599	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	39	cd05050	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd06605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	37	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	35	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	36	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	35	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	33	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	40	cd05048	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	34	cd05058	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	24	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	24	cd05570	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	24	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	24	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	24	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	24	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	24	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	24	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	24	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	24	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	26	cd05047	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	26	cd05116	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd05044	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	28	cd05040	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	24	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	24	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	24	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	24	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	24	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	24	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	24	cd05085	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	71	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	24	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	31	cd05060	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	24	cd05084	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	54	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	51	cd05101	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	48	cd06647	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	48	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	60	cd05057	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	49	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	44	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	51	cd06639	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	72	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	42	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	72	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	53	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	45	cd06636	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	46	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	48	cd05099	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	50	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	54	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	50	cd06659	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	48	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	72	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	51	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	54	cd05098	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	40	cd06644	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	31	cd06625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd06632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	23	cd05606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	23	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	59	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	28	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	25	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	32	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	52	pfam07714	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	34	cd05069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	100	smart00219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	28	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	37	cd05080	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	35	cd05148	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	37	cd05081	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	34	cd05071	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd06629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	37	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	31	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	52	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	32	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	31	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	31	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	38	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	32	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	28	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	28	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	103	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	36	cd06608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	99	cd05046	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	35	cd06637	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	71	cd05055	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	62	cd05056	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	34	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	38	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	48	cd06648	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	47	cd06638	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	39	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	38	cd05088	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	49	cd06657	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	51	cd06658	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	32	cd06613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	34	cd05072	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	34	cd05070	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	40	cd05061	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	28	cd06631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	71	cd05032	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	33	cd06616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	39	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd08222	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	34	cd05045	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd08218	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd08223	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd08219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd08225	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd06628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	32	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	32	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	32	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	109	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	44	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	42	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	31	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	32	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	30	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	39	cd08528	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd08529	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	31	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	31	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	31	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	31	cd06651	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	47	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	31	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	39	cd05093	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	38	cd06646	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	33	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	38	cd06645	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	33	cd06642	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	33	cd06640	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	34	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	51	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	34	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	39	cd05092	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	35	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	34	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	40	cd05036	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	44	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	36	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	44	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	48	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	22	cd05577	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	71	cd05572	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	22	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	62	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	22	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	22	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	29	cd05042	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	24	cd05041	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	26	cd05115	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	22	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	25	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	22	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	36	cd05066	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	32	cd05059	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	34	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	60	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	35	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	35	cd05052	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	35	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	31	cd08229	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	32	cd08224	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	36	cd05065	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	31	cd08228	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	32	cd05112	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	34	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	32	cd05113	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	33	cd05083	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	53	cd05095	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	34	cd05067	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	34	cd05068	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	32	cd05114	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	50	cd05097	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	39	cd05049	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	33	cd05082	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	33	cd05039	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	50	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	46	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	44	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	44	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	44	cd06618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	46	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	34	cd05073	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ala40Val	VAR_058022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058022	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	37	cd06624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	69	cd05063	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	62	cd06617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd06621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	75	cd06609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	111	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	83	cd05574	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	82	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	66	cd06653	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	81	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	91	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	62	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	66	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	114	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	83	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	80	cd05053	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05034	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	72	cd05038	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	117	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	362	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	66	cd06652	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	70	cd06917	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	68	cd05599	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	70	cd05050	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd06605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	70	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	66	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	68	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	71	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	71	cd05048	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd05058	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	60	cd05570	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	57	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05047	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05116	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd05044	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd05040	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	57	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	57	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	57	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	55	cd05085	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	113	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05060	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	55	cd05084	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	90	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	83	cd05101	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	78	cd06647	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	78	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	120	cd05057	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	79	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	76	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	88	cd06639	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	105	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	74	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	105	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	85	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	75	cd06636	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	78	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	80	cd05099	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	83	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	87	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	80	cd06659	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	78	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	105	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	83	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	86	cd05098	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	71	cd06644	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	66	cd06625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	71	cd06632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	60	cd05606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	59	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	197	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	60	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	59	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	66	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	97	pfam07714	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	216	smart00219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	68	cd05080	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd05148	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd05081	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05071	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	70	cd06629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	68	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	95	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	88	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	60	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	70	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	78	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	96	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	60	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	60	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	294	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	90	cd06608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	130	cd05046	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd06637	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	103	cd05055	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	98	cd05056	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	70	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	78	cd06648	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	77	cd06638	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	71	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	70	cd05088	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	79	cd06657	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	81	cd06658	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd06613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05072	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05070	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	71	cd05061	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd06631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	102	cd05032	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	72	cd06616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	72	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd08222	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd05045	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd08218	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd08223	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	60	cd08219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd08225	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	70	cd06628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	62	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	62	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	62	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	156	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	78	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	60	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	62	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	126	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	80	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	62	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	62	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	66	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	62	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	80	cd08528	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd08529	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	76	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	68	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	68	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	66	cd06651	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	91	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	69	cd05093	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	68	cd06646	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	68	cd06645	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd06642	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd06640	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	69	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	84	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	69	cd05092	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	71	cd05036	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	77	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	68	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	77	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	80	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05577	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	104	cd05572	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	174	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	55	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	57	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	60	cd05042	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	56	cd05041	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	57	cd05115	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	55	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	96	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	55	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd05066	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd05059	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	91	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	66	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd05052	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	66	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd08229	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd08224	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd05065	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd08228	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd05112	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd05113	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd05083	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	84	cd05095	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05067	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05068	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd05114	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	81	cd05097	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	70	cd05049	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd05082	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd05039	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	82	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	78	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	76	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	76	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	76	cd06618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	78	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05073	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Asn	VAR_058023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058023	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd06624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	69	cd05063	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	62	cd06617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd06621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	75	cd06609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	111	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	83	cd05574	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	82	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	66	cd06653	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	81	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	91	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	62	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	66	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	114	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	83	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	80	cd05053	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05034	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	72	cd05038	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	117	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	362	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	66	cd06652	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	70	cd06917	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	68	cd05599	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	70	cd05050	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd06605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	70	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	66	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	68	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	71	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	71	cd05048	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd05058	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	60	cd05570	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	57	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05047	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05116	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd05044	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd05040	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	57	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	57	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	57	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	55	cd05085	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	113	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05060	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	55	cd05084	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	90	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	83	cd05101	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	78	cd06647	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	78	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	120	cd05057	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	79	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	76	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	88	cd06639	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	105	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	74	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	105	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	85	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	75	cd06636	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	78	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	80	cd05099	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	83	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	87	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	80	cd06659	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	78	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	105	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	83	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	86	cd05098	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	71	cd06644	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	66	cd06625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	71	cd06632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	60	cd05606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	59	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	197	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	60	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	59	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	66	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	97	pfam07714	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	216	smart00219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	68	cd05080	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd05148	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd05081	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05071	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	70	cd06629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	68	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	95	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	88	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	60	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	70	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	78	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	96	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	60	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	60	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	294	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	90	cd06608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	130	cd05046	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd06637	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	103	cd05055	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	98	cd05056	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	70	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	78	cd06648	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	77	cd06638	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	71	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	70	cd05088	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	79	cd06657	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	81	cd06658	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd06613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05072	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05070	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	71	cd05061	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd06631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	102	cd05032	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	72	cd06616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	72	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd08222	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd05045	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd08218	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd08223	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	60	cd08219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd08225	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	70	cd06628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	62	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	62	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	62	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	156	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	78	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	60	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	62	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	126	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	80	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	62	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	62	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	66	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	62	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	80	cd08528	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd08529	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	76	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	68	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	68	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	66	cd06651	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	91	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	69	cd05093	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	68	cd06646	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	68	cd06645	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd06642	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd06640	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	69	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	84	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	69	cd05092	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	71	cd05036	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	77	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	68	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	77	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	80	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05577	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	104	cd05572	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	58	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	174	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	55	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	57	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	60	cd05042	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	56	cd05041	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	57	cd05115	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	55	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	96	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	55	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd05066	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd05059	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	91	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	66	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd05052	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	66	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd08229	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd08224	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd05065	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	64	cd08228	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd05112	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd05113	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd05083	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	84	cd05095	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05067	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05068	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd05114	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	81	cd05097	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	70	cd05049	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	61	cd05082	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	65	cd05039	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	82	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	78	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	76	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	76	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	76	cd06618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	78	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	63	cd05073	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Ile72Thr	VAR_058024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058024	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	67	cd06624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	125	cd05063	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	121	cd06617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	130	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	127	cd06621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	140	cd06609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	123	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	140	cd05574	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	133	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	120	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	123	cd06653	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	152	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	146	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	117	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	127	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	233	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	139	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	129	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	121	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd05053	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	120	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	135	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	120	cd05034	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	145	cd05038	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	517	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	147	cd06652	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	127	cd06917	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	123	cd05599	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	138	cd05050	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	134	cd06605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	126	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	122	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	135	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	135	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	120	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd05048	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	122	cd05058	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	113	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	115	cd05570	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	113	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	113	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	113	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	113	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	112	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	113	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	113	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	113	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	129	cd05047	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	112	cd05116	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	124	cd05044	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	121	cd05040	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	112	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	112	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	113	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	113	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	112	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	113	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	111	cd05085	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	324	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	113	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd05060	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	111	cd05084	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	154	cd05101	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	132	cd06647	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	132	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd05057	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	133	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	145	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	152	cd06639	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	159	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	141	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	159	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	138	cd06636	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	137	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	151	cd05099	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	138	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	142	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	134	cd06659	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	132	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	159	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	151	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	157	cd05098	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	127	cd06644	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	123	cd06625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	136	cd06632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	115	cd05606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	114	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	385	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	115	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	114	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	121	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	271	pfam07714	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd05069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	401	smart00219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	124	cd05080	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	122	cd05148	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	125	cd05081	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd05071	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	127	cd06629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	126	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	166	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	125	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	157	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	197	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	125	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	126	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	478	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd06608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	203	cd05046	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	128	cd06637	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	256	cd05055	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	153	cd05056	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	120	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	148	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	133	cd06648	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	141	cd06638	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	125	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	141	cd05088	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	133	cd06657	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	135	cd06658	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	120	cd06613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	120	cd05072	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd05070	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	137	cd05061	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	121	cd06631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	181	cd05032	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	131	cd06616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	132	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	124	cd08222	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd05045	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd08218	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd08223	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	117	cd08219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd08225	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	125	cd06628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	122	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	122	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	122	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	121	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	116	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	221	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	128	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	150	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	122	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	120	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	197	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	117	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	127	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	155	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	123	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	124	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	139	cd08528	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	123	cd08529	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	134	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	126	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	120	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	132	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	123	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	123	cd06651	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	120	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	137	cd05093	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	123	cd06646	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	123	cd06645	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd06642	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd06640	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	127	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	145	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	139	cd05092	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	126	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	121	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	135	cd05036	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	132	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	138	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	132	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	151	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	117	cd05577	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	184	cd05572	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	113	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	347	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	114	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	113	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	120	cd05042	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	114	cd05041	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	112	cd05115	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	112	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	632	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	110	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	123	cd05066	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd05059	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	120	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	150	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	121	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	121	cd05052	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	121	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	123	cd08229	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	124	cd08224	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	123	cd05065	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	123	cd08228	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	117	cd05112	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	120	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	118	cd05113	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	117	cd05083	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	158	cd05095	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd05067	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	122	cd05068	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	117	cd05114	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	148	cd05097	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd05049	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	119	cd05082	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	117	cd05039	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	140	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	136	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	135	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	135	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	136	cd06618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	137	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	120	cd05073	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.His127Arg	VAR_058025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058025	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	130	cd06624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	150	cd05063	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	147	cd06617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	158	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	152	cd06621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	166	cd06609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	196	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	148	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	182	cd05574	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	158	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	146	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	148	cd06653	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	191	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	148	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	152	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	258	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	154	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	146	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	192	cd05053	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	146	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	161	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	149	cd05034	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	174	cd05038	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	199	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	662	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd06652	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	153	cd06917	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	310	cd05599	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd05050	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	161	cd06605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	151	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	147	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	161	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	145	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd05048	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	147	cd05058	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	138	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	140	cd05570	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	138	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	138	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	153	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	138	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	137	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	138	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	138	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	153	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	154	cd05047	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	137	cd05116	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	159	cd05044	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	150	cd05040	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	137	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	138	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	138	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	138	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	138	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	138	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	136	cd05085	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	362	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	138	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd05060	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	136	cd05084	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	194	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	179	cd05101	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	157	cd06647	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	157	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	204	cd05057	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	158	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	177	cd06639	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	184	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	166	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	184	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd06636	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	162	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176	cd05099	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	159	cd06659	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	157	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	184	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	182	cd05098	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	152	cd06644	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	148	cd06625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	161	cd06632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	140	cd05606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	139	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	527	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	140	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	139	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	145	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	146	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	317	pfam07714	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd05069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	455	smart00219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	149	cd05080	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	147	cd05148	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	150	cd05081	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd05071	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	152	cd06629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	151	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	218	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	192	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	154	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	192	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	253	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	154	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	151	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	149	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	620	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	185	cd06608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	228	cd05046	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	153	cd06637	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	281	cd05055	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd05056	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	145	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	158	cd06648	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	166	cd06638	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	150	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	166	cd05088	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	158	cd06657	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd06658	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	145	cd06613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	145	cd05072	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd05070	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	162	cd05061	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	146	cd06631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	206	cd05032	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	157	cd06616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	157	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	148	cd08222	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd05045	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd08218	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd08223	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	142	cd08219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd08225	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	150	cd06628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	147	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	147	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	146	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	141	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	252	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	153	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	177	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	213	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	145	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	232	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	142	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	153	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	202	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	151	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	152	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd08528	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	148	cd08529	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	159	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	151	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	145	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	162	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	148	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	148	cd06651	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	188	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	145	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	162	cd05093	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	148	cd06646	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	148	cd06645	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd06642	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd06640	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	152	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	164	cd05092	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	151	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	146	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05036	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	157	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	157	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	142	cd05577	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	210	cd05572	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	138	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	442	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	139	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	138	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	145	cd05042	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	138	cd05041	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	137	cd05115	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	137	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	658	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	135	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	148	cd05066	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd05059	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	145	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	180	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	146	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	146	cd05052	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	146	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	148	cd08229	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	149	cd08224	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	148	cd05065	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	148	cd08228	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	142	cd05112	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	145	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	143	cd05113	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	142	cd05083	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	183	cd05095	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd05067	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	147	cd05068	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	142	cd05114	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd05097	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	174	cd05049	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	144	cd05082	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	148	cd05039	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	161	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	161	cd06618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	162	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	145	cd05073	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys152Phe	VAR_023560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023560	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	156	cd06624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176	cd05063	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd06617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	184	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd06621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	193	cd06609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	229_G	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	212	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	261	cd05574	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	162	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	181	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	166	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	225	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd06653	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	218	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	194	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	174	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	401	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	212	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	186	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	166	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	166	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	200	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	213	cd05053	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	183	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd05034	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	200	cd05038	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	164	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	302	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	801	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	197	cd06652	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	177	cd06917	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	368	cd05599	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	226	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	200	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	200	cd05050	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	183	cd06605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	212	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	192	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	184	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	185	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	194	cd05048	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	174	cd05058	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	166_G	cd05570	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	159	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176	cd05047	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05116	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	184	cd05044	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd05040	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	159	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd05085	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	396	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05060	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	161	cd05084	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	218	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	204	cd05101	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	179	cd06647	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	179	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	230	cd05057	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	180	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	189	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	199	cd06639	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	207	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	194	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	207	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	189	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	185	cd06636	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	185	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	201	cd05099	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	181	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	185	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	181	cd06659	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	179	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	207	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	198	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	207	cd05098	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	174	cd06644	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd06625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	186	cd06632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd05606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	159	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	663	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	162	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	158	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	199	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	347	pfam07714	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	164	cd05069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	552	smart00219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd05080	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd05148	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd05081	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	164	cd05071	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd06629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	177	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	239	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	191	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	225	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	179	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	218	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	213	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	293	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	179	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	726	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	218	cd06608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	252	cd05046	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd06637	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	302	cd05055	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	204	cd05056	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	213	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	180	cd06648	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	188	cd06638	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	188	cd05088	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	180	cd06657	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	182	cd06658	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd06613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05072	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd05070	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	187	cd05061	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	174	cd06631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	231	cd05032	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd06616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	180	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd08222	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	194	cd05045	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd08218	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	166	cd08223	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	164	cd08219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	166	cd08225	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	180	cd06628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	183	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	279	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	174	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	204	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	235	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	280	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	164	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	174	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	232	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	166	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	207	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	187	cd08528	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd08529	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	201	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	181	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	186	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd06651	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	251	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	174	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	187	cd05093	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd06646	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd06645	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd06642	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd06640	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	188	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	201	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	194	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	189	cd05092	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	189	cd05036	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	187	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	197	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	164	cd05577	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	239_G	cd05572	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	624	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	161	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	707	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd05042	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05041	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	159	cd05115	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	158	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	733	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	157	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	174	cd05066	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd05059	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	210	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	166	cd05052	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd08229	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd08224	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176	cd05065	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd08228	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	162	cd05112	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05113	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	162	cd05083	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	208	cd05095	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd05067	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05068	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	162	cd05114	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	198	cd05097	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	186	cd05049	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	164	cd05082	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd05039	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	186	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	182	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	179	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	179	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	183_G	cd06618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	181	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd05073	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg175Ser	VAR_023561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023561	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd06624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd05063	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd06617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	187	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176	cd06621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	196	cd06609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	229_G	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	215	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	264	cd05574	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	181	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	184	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	235	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	228	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176	cd06653	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	221	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	197	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	174	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	177	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	404	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	215	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	189	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	203	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	219_G	cd05053	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	186	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	181	cd05034	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	202_G	cd05038	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	305	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	804	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	200	cd06652	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	180	cd06917	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	382	cd05599	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	229	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	203	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	202_G	cd05050	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	186	cd06605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	215	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	195	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	187	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	188	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	196_G	cd05048	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176_G	cd05058	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	166_G	cd05570	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	179	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	162	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178_G	cd05047	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165_G	cd05116	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	186_G	cd05044	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	180_G	cd05040	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	162	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	162	cd05085	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	398_G	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172_G	cd05060	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05084	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	221	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	206_G	cd05101	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	182	cd06647	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	182	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	232_G	cd05057	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	183	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	192	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	202	cd06639	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	210	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	197	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	210	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	192	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	188	cd06636	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	188	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	203_G	cd05099	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	184	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	188	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	184	cd06659	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	182	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	210	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	201	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	209_G	cd05098	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	177	cd06644	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176	cd06625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	189	cd06632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	162	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	707	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	161	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	202	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	352	pfam07714	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	554_G	smart00219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	177_G	cd05080	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd05148	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178_G	cd05081	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05071	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	180_G	cd06629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	179_G	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	242	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	194	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	228	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	182	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	221	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	216	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	296	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	182	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	179	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	770	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	221	cd06608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	254_G	cd05046	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd06637	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	308_G	cd05055	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	206_G	cd05056	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	216	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	183	cd06648	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	191	cd06638	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	190_G	cd05088	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	183	cd06657	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	185	cd06658	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd06613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd05072	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05070	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	189_G	cd05061	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	177	cd06631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	233_G	cd05032	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	181	cd06616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	183	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd08222	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	196_G	cd05045	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd08218	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd08223	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd08219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd08225	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	183	cd06628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	186	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	174	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	166	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	282	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	177	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	207	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	238	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	283	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	177	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	235	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	210	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	190	cd08528	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd08529	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	204	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	184	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	189	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176	cd06651	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	254	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	189_G	cd05093	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd06646	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd06645	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd06642	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd06640	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	191	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	204	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	197	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	191_G	cd05092	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	179	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	191_G	cd05036	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	190	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	203	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd05577	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	239_G	cd05572	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	627	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	164	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	710	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173_G	cd05042	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05041	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05115	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	161	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	736	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	160	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176	cd05066	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05059	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	212	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd05052	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd08229	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	174	cd08224	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd05065	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd08228	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd05112	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd05113	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	164	cd05083	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	211	cd05095	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05067	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176	cd05068	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd05114	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	201	cd05097	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	189	cd05049	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	166	cd05082	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd05039	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	189	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	185	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	182	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	182	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	185	cd06618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	184	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd05073	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Arg178Pro	VAR_058026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058026	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	181	cd06624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	180	cd05063	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd06617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	189	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd06621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	198	cd06609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	230	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	217	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	266	cd05574	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	183	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	186	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	237	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	230	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd06653	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	223	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	199	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	179	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	406	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	217	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	191	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	205	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	221	cd05053	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	188	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	183	cd05034	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	204	cd05038	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	307	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	806	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	202	cd06652	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	182	cd06917	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	384	cd05599	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	231	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	205	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	204	cd05050	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	188	cd06605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	217	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	197	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	174	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	189	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	190	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	198	cd05048	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd05058	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd05570	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	181	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	164	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	180	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	180	cd05047	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd05116	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	188	cd05044	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	182	cd05040	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	164	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	164	cd05085	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	400	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	174	cd05060	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05084	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	223	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	208	cd05101	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	184	cd06647	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	184	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	234	cd05057	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	185	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	194	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	204	cd06639	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	212	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	199	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	212	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	194	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	190	cd06636	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	190	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	205	cd05099	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	186	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	190	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	186	cd06659	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	184	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	212	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	203	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	211	cd05098	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	179	cd06644	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd06625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	191	cd06632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	164	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	709	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	204	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	354	pfam07714	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd05069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	556	smart00219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	179	cd05080	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd05148	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	180	cd05081	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd05071	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	182	cd06629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	181	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	244	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	196	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	230	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	184	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	223	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	218	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	298	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	184	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	181	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	772	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	222_G	cd06608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	256	cd05046	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	180	cd06637	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	310	cd05055	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	208	cd05056	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	218	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	185	cd06648	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	193	cd06638	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	174	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	192	cd05088	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	185	cd06657	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	187	cd06658	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd06613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd05072	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd05070	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	191	cd05061	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	179	cd06631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	235	cd05032	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	183	cd06616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	185	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd08222	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	198	cd05045	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd08218	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd08223	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd08219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd08225	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	185	cd06628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	188	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	174	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	284	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	179	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	209	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	240	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	285	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	179	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	237	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	177	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	212	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	192	cd08528	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd08529	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	206	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	186	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	180	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	191	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd06651	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	256	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	177	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	180	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	191	cd05093	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd06646	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd06645	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd06642	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd06640	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	193	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	206	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	199	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	193	cd05092	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	181	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	193	cd05036	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	180	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	192	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	180	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	205	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	169	cd05577	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	240	cd05572	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	165	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	629	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	166	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	712	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd05042	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd05041	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	167	cd05115	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	163	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	738	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	162	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd05066	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd05059	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	214	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	174	cd05052	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd08229	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	176	cd08224	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	180	cd05065	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd08228	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05112	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	171	cd05113	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	166	cd05083	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	213	cd05095	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	172	cd05067	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	178	cd05068	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	170	cd05114	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	203	cd05097	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	203	cd05049	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	168	cd05082	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	175	cd05039	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	191	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	187	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	184	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	184	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	187	cd06618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	186	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	173	cd05073	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Pro180Leu	VAR_037635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037635	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	183	cd06624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	221	cd05063	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	218	cd06617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	237	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	226	cd06621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	241	cd06609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	273	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	258	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	220	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	222	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	306	cd05574	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	203	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	223	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	225	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	213	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	278	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	261_G	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	218	cd06653	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	217	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	278	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	217	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	239	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	217	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	219	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	460	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	269	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	227	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	212	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	213	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	243	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	262	cd05053	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	218	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	229	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	222_G	cd05034	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	270	cd05038	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	213	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	218	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	353	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	991	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	242	cd06652	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	223	cd06917	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	452	cd05599	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	269_G	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	248	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	245	cd05050	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	285	cd06605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	258	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	238	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	216	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	230	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	233	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	214	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	239	cd05048	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	216	cd05058	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	205	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	215	cd05570	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	212	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	208	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	220	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	213	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	206	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	205	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	204	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	219	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	227	cd05047	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	210	cd05116	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	229	cd05044	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	223	cd05040	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	206	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	207	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	204	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	204	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	207	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	197_G	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	208	cd05085	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	454_G	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	204	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	215	cd05060	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	206	cd05084	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	263	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	248	cd05101	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	224	cd06647	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	224	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	277	cd05057	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	225	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	235	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	249	cd06639	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	256	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	240	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	254_G	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	234	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	235	cd06636	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	230	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	245	cd05099	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	229	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	233	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	226	cd06659	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	224	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	255_G	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	245	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	251	cd05098	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	224	cd06644	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	219	cd06625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	236	cd06632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	211	cd05606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	199	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	871	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	207	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	315	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	255	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	216	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	431	pfam07714	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	213	cd05069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	620	smart00219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	210	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	227	cd05080	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	221	cd05148	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	235	cd05081	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	213	cd05071	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	225	cd06629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	216	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	285	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	237	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	310	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	234	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	274	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	259	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	378	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	234	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	222	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	216	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	937	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	262	cd06608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	298	cd05046	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	225	cd06637	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	350	cd05055	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	249	cd05056	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	214	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	259	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	225	cd06648	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	238	cd06638	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	215	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	239	cd05088	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	225	cd06657	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	227	cd06658	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	213_G	cd06613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	214	cd05072	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	213	cd05070	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	231	cd05061	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	219	cd06631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	278	cd05032	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	230	cd06616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	220	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	215	cd08222	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	258	cd05045	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	211	cd08218	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	211	cd08223	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	209	cd08219	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	211	cd08225	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	225	cd06628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	210	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	210	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	210	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	230	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	218	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	216	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	215	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	209	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	210	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	338	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	219	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	197	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	256	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	282	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	213	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	223	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	362	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	210	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	214_G	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	280	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	212	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	216	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	255	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	210	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	252	cd08528	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	215	cd08529	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	248	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	227	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	222	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	234	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	214	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	218	cd06651	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	329	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	209	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	219	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	219	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	234	cd05093	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	218	cd06646	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	210	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	218	cd06645	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	210	cd06642	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	210	cd06640	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	234	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	247	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	240	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	236	cd05092	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	223	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	215	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	236	cd05036	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	214	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	233	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	225	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	246	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	216	cd05577	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	284	cd05572	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	193_G	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	694	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	206	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	765	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	223	cd05042	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	230	cd05041	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	211	cd05115	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	205	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	823_G	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	201	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	219	cd05066	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	211_G	cd05059	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	214	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	248_G	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	214	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	221	cd05052	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	214	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	213	cd08229	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	218	cd08224	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	221	cd05065	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	214	cd08228	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	214	cd05112	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	213	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	215	cd05113	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	209	cd05083	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	265	cd05095	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	227	cd05067	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	219	cd05068	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	211	cd05114	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	258	cd05097	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	246	cd05049	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	209	cd05082	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	264	cd05039	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	231	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	227	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	225	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	225	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	233	cd06618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	227	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	214	cd05073	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Leu220Pro	VAR_058027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058027	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	226	cd06624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	316	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	313	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	327	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	304	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	305	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	249	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	277	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	295	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	268	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	327	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	318	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	319	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	332	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	319	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	307	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	295	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	286	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	521	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	362	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	283	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	298	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	295	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	318	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	259	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	293	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	296	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	266	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	440	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	1176	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	319	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	318	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	326	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	309	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	258	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	297	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	331	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	256	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	271	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	291	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	279	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	292	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	287	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	285	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	262	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	282	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	302	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	285	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	286	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	307	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	302	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	286	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	258	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	513	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	279	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	302	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	292	cd06647	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	289	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	290	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	302	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	341	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	345	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	298	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	312	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	312	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	303	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	307	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	294	cd06659	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	289	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	299	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	317	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	253	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	1215	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	282	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	456	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	299	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	284	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	269	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	273	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	386	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	307	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	411	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	308	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	356	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	346	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	465	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	308	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	302	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	291	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	1074	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	286	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	344	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	282	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	270	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	278	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	278	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	278	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	275	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	258	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	256	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	294	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	282	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	277	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	429	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	282	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	260	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	345	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	320	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	286	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	274	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	421	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	275	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	256	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	329	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	284	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	255	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	294	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	286	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	328	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	296	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	289	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	305	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	259	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	452	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	279	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	302	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	305	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	264	cd06646	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	267	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	317	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	325	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	317	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	291	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	288	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	267	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	307	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	299	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	323	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	264	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	854	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	269	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	815	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	266_G	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	915	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	238	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	282	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	289_G	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	280	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	280	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	279	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	309	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	305	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	292	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	292	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Thr288Ile	VAR_058028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058028	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	294	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	319	cd06622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	322	cd05580	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	328_G	cd05625	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	307	cd06620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	308	cd05597	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	252	cd05612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	280	cd06619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	298	cd05609	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	272	cd06650	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	335	cd05600	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	321	cd05598	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	322	cd05624	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	335	cd06623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	322	cd05623	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	310	cd07848	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	298	cd07847	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	289	cd07862	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	540	cd05581	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	365	cd07833	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	286	cd06610	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	301	cd07846	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	298	cd06649	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	321	cd05628	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	262	cd06630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	296	cd07837	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	299	cd06615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	269	cd05601	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	443	cd05573	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	1179	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	322	cd05629	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	321	cd05627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	329	cd05626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	312	cd07852	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	261	cd06611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	300	cd07864	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	334	cd07843	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	259	cd06643	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	274	cd05617	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	294	cd05575	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	282	cd05604	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	295	cd05592	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	291	cd05618	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	288	cd05593	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	265	cd05602	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	285	cd05619	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	305	cd05620	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	287_G	cd05595	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	288_G	cd05571	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	309	cd05591	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	308	cd05590	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	289	cd05594	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	261	cd05588	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	519	cd00192	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	282	cd05603	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	305	cd06614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	292	cd06655	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	293	cd06654	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	305	cd07879	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	344	cd05622	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	348	cd07865	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	301	cd05621	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	315	cd07875	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	315	cd07850	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	306	cd06633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	310	cd06635	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	292	cd06656	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	302	cd05596	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	320	cd07851	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	256	cd05633	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	1234	smart00220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	285	cd05582	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	459	cd05611	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	302	cd06626	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	287	cd05584	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	273	cd05589	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	276	cd05079	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	391	cd07830	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	310	cd07835	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	414	cd07840	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	311	cd07867	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	359	cd07829	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	349	cd07838	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	468	pfam00069	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	311	cd07868	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	305	cd05118	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	294	cd07831	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	1077	smart00221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	289	cd07870	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	347	cd07866	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	285	cd07856	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	273	cd06612	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	281	cd05632	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	281	cd05631	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	281	cd05630	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	278	cd05613	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	266	cd05583	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	264	cd05614	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	297	cd07853	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	285	cd05615	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	280	cd07839	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	432	cd07842	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	285	cd07863	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	263	cd08221	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	349	cd05122	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	323	cd08217	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	289	cd07836	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	284	cd05578	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	424	cd06606	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	278	cd07860	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	259	cd08220	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	332	cd08215	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	287	cd07861	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	258	cd08530	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	297	cd06627	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	289	cd05605	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	331	cd07841	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	299	cd07857	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	292	cd07859	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	308	cd07832	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	262	cd05587	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	455	cd07834	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	282	cd05616	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	305	cd08226	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	308	cd08216	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	270	cd06641	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	320	cd07849	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	328	cd07855	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	320	cd07854	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	294	cd07858	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	291	cd07844	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	270	cd06607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	310	cd07845	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	302	cd06634	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	326	cd05100	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	267	cd05586	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	867	cd00180	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	272	cd05608	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	821	cd05579	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	269	cd05607	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	925	cd05123	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	244	cd05585	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	285	cd07869	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	289_G	cd05033	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	283	cd07873	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	283	cd07872	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	282	cd07871	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	312	cd07876	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	308	cd07874	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	295	cd07880	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	295	cd07878	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Cys291Tyr	VAR_058029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058029	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	297	cd07877	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Asn399Thr	VAR_058030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058030	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	1298	COG0515	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Val718Met	VAR_058032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058032	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	No Domain	N/A	83367069,NP_001032420|4507281,NP_003150
6792	6175070	Disease	p.Val793Ala	VAR_037636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037636	- Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]	SWISS	No Domain	N/A	83367069,NP_001032420|4507281,NP_003150
55835	62899891	Disease	p.Glu1235Val	VAR_032433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032433	- Microcephaly primary type 6 (MCPH6) [MIM:608393]	SWISS	78	pfam07202	130980075,NP_060921
80184	116241294	Disease	p.Trp7Cys	VAR_028356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028356	- Joubert syndrome type 5 (JBTS5) [MIM:610188]	SWISS	No Domain	N/A	109255234,NP_079390
1071	71153497	Disease	p.Leu168Pro	VAR_033099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033099	- Hyperalphalipoproteinemia [MIM:143470]	SWISS	167	cd00264	169636439,NP_000069
1071	71153497	Disease	p.Leu168Pro	VAR_033099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033099	- Hyperalphalipoproteinemia [MIM:143470]	SWISS	163	cd00025	169636439,NP_000069
1071	71153497	Disease	p.Leu168Pro	VAR_033099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033099	- Hyperalphalipoproteinemia [MIM:143470]	SWISS	170	pfam01273	169636439,NP_000069
1071	71153497	Disease	p.Leu168Pro	VAR_033099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033099	- Hyperalphalipoproteinemia [MIM:143470]	SWISS	166	smart00328	169636439,NP_000069
1071	71153497	Disease	p.Arg299Cys	VAR_033100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033100	- Hyperalphalipoproteinemia [MIM:143470]	SWISS	28	smart00329	169636439,NP_000069
1071	71153497	Disease	p.Arg299Cys	VAR_033100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033100	- Hyperalphalipoproteinemia [MIM:143470]	SWISS	70	pfam02886	169636439,NP_000069
1071	71153497	Disease	p.Arg299Cys	VAR_033100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033100	- Hyperalphalipoproteinemia [MIM:143470]	SWISS	23	cd00264	169636439,NP_000069
1071	71153497	Disease	p.Arg299Cys	VAR_033100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033100	- Hyperalphalipoproteinemia [MIM:143470]	SWISS	23	cd00026	169636439,NP_000069
1071	71153497	Disease	p.Asp459Gly	VAR_004172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004172	rs2303790 Cholesteryl ester transfer protein deficiency (CETP deficiency) [MIM:607322]	SWISS	240	smart00329	169636439,NP_000069
1071	71153497	Disease	p.Asp459Gly	VAR_004172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004172	rs2303790 Cholesteryl ester transfer protein deficiency (CETP deficiency) [MIM:607322]	SWISS	248	pfam02886	169636439,NP_000069
1071	71153497	Disease	p.Asp459Gly	VAR_004172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004172	rs2303790 Cholesteryl ester transfer protein deficiency (CETP deficiency) [MIM:607322]	SWISS	233	cd00264	169636439,NP_000069
1071	71153497	Disease	p.Asp459Gly	VAR_004172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004172	rs2303790 Cholesteryl ester transfer protein deficiency (CETP deficiency) [MIM:607322]	SWISS	195	cd00026	169636439,NP_000069
629	584908	Disease	p.Ser166Pro	VAR_063659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063659	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	2	cd00033	67782358,NP_001701
629	584908	Disease	p.Ser166Pro	VAR_063659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063659	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	2	pfam00084	67782358,NP_001701
629	584908	Disease	p.Ser166Pro	VAR_063659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063659	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	2	smart00032	67782358,NP_001701
629	584908	Disease	p.Arg203Gln	VAR_063660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063660	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	71	cd00033	67782358,NP_001701
629	584908	Disease	p.Arg203Gln	VAR_063660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063660	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	70	pfam00084	67782358,NP_001701
629	584908	Disease	p.Arg203Gln	VAR_063660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063660	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	85	smart00032	67782358,NP_001701
629	584908	Disease	p.Ile242Leu	VAR_063661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063661	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	No Domain	N/A	67782358,NP_001701
629	584908	Disease	p.Phe286Leu	VAR_063221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063221	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	26	cd01480	67782358,NP_001701
629	584908	Disease	p.Phe286Leu	VAR_063221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063221	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	58	smart00327	67782358,NP_001701
629	584908	Disease	p.Phe286Leu	VAR_063221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063221	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	18	cd01469	67782358,NP_001701
629	584908	Disease	p.Phe286Leu	VAR_063221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063221	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	18	cd01470	67782358,NP_001701
629	584908	Disease	p.Phe286Leu	VAR_063221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063221	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	29	cd00198	67782358,NP_001701
629	584908	Disease	p.Phe286Leu	VAR_063221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063221	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	26	cd01450	67782358,NP_001701
629	584908	Disease	p.Phe286Leu	VAR_063221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063221	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	24	cd01472	67782358,NP_001701
629	584908	Disease	p.Phe286Leu	VAR_063221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063221	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	19	cd01471	67782358,NP_001701
629	584908	Disease	p.Phe286Leu	VAR_063221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063221	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	27	pfam00092	67782358,NP_001701
629	584908	Disease	p.Lys323Glu	VAR_063222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063222	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	77	cd01480	67782358,NP_001701
629	584908	Disease	p.Lys323Glu	VAR_063222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063222	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	168	smart00327	67782358,NP_001701
629	584908	Disease	p.Lys323Glu	VAR_063222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063222	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	55	cd01469	67782358,NP_001701
629	584908	Disease	p.Lys323Glu	VAR_063222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063222	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	55	cd01470	67782358,NP_001701
629	584908	Disease	p.Lys323Glu	VAR_063222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063222	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	90	cd00198	67782358,NP_001701
629	584908	Disease	p.Lys323Glu	VAR_063222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063222	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	90	cd01450	67782358,NP_001701
629	584908	Disease	p.Lys323Glu	VAR_063222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063222	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	76	cd01472	67782358,NP_001701
629	584908	Disease	p.Lys323Glu	VAR_063222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063222	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	56	cd01471	67782358,NP_001701
629	584908	Disease	p.Lys323Glu	VAR_063222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063222	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	85	pfam00092	67782358,NP_001701
629	584908	Disease	p.Lys323Gln	VAR_063662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063662	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	77	cd01480	67782358,NP_001701
629	584908	Disease	p.Lys323Gln	VAR_063662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063662	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	168	smart00327	67782358,NP_001701
629	584908	Disease	p.Lys323Gln	VAR_063662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063662	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	55	cd01469	67782358,NP_001701
629	584908	Disease	p.Lys323Gln	VAR_063662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063662	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	55	cd01470	67782358,NP_001701
629	584908	Disease	p.Lys323Gln	VAR_063662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063662	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	90	cd00198	67782358,NP_001701
629	584908	Disease	p.Lys323Gln	VAR_063662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063662	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	90	cd01450	67782358,NP_001701
629	584908	Disease	p.Lys323Gln	VAR_063662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063662	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	76	cd01472	67782358,NP_001701
629	584908	Disease	p.Lys323Gln	VAR_063662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063662	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	56	cd01471	67782358,NP_001701
629	584908	Disease	p.Lys323Gln	VAR_063662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063662	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	85	pfam00092	67782358,NP_001701
629	584908	Disease	p.Met458Ile	VAR_063663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063663	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	242	cd01480	67782358,NP_001701
629	584908	Disease	p.Met458Ile	VAR_063663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063663	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	654	smart00327	67782358,NP_001701
629	584908	Disease	p.Met458Ile	VAR_063663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063663	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	178	cd01469	67782358,NP_001701
629	584908	Disease	p.Met458Ile	VAR_063663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063663	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	206	cd01470	67782358,NP_001701
629	584908	Disease	p.Met458Ile	VAR_063663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063663	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	179	cd01471	67782358,NP_001701
629	584908	Disease	p.Met458Ile	VAR_063663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063663	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	268	pfam00092	67782358,NP_001701
629	584908	Disease	p.Lys533Arg	VAR_063664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063664	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	82	cd00190	67782358,NP_001701
629	584908	Disease	p.Lys533Arg	VAR_063664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063664	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	92	smart00020	67782358,NP_001701
629	584908	Disease	p.Lys533Arg	VAR_063664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063664	- Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]	SWISS	81	pfam00089	67782358,NP_001701
55997	300680886	Disease	p.Arg112Cys	VAR_024323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024323	- Visceral heterotaxy autosomal type 2 (HTX2) [MIM:605376]	SWISS	No Domain	N/A	14211837,NP_115934
1675	158515408	Disease	p.Val213Gly	VAR_034866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034866	- Complement factor D deficiency (CFD deficiency) [MIM:134350]	SWISS	499	smart00020	42544239,NP_001919
1675	158515408	Disease	p.Val213Gly	VAR_034866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034866	- Complement factor D deficiency (CFD deficiency) [MIM:134350]	SWISS	359	cd00190	42544239,NP_001919
1675	158515408	Disease	p.Val213Gly	VAR_034866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034866	- Complement factor D deficiency (CFD deficiency) [MIM:134350]	SWISS	290	pfam00089	42544239,NP_001919
1675	158515408	Disease	p.Cys214Arg	VAR_034867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034867	- Complement factor D deficiency (CFD deficiency) [MIM:134350]	SWISS	500	smart00020	42544239,NP_001919
1675	158515408	Disease	p.Cys214Arg	VAR_034867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034867	- Complement factor D deficiency (CFD deficiency) [MIM:134350]	SWISS	360	cd00190	42544239,NP_001919
1675	158515408	Disease	p.Cys214Arg	VAR_034867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034867	- Complement factor D deficiency (CFD deficiency) [MIM:134350]	SWISS	291	pfam00089	42544239,NP_001919
3075	158517847	Disease	p.Arg78Gly	VAR_025864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025864	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	99	cd00033	NULL
3075	158517847	Disease	p.Arg78Gly	VAR_025864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025864	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	95	pfam00084	NULL
3075	158517847	Disease	p.Arg78Gly	VAR_025864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025864	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	115	smart00032	NULL
3075	158517847	Disease	p.Arg127Leu	VAR_031978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031978	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	71	cd00033	NULL
3075	158517847	Disease	p.Arg127Leu	VAR_031978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031978	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	70	pfam00084	NULL
3075	158517847	Disease	p.Arg127Leu	VAR_031978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031978	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	85	smart00032	NULL
3075	158517847	Disease	p.Cys325Tyr	VAR_063648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063648	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	No Domain	N/A	NULL
3075	158517847	Disease	p.Gln400Lys	VAR_031980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031980	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	21	cd00033	NULL
3075	158517847	Disease	p.Gln400Lys	VAR_031980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031980	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	22	pfam00084	NULL
3075	158517847	Disease	p.Gln400Lys	VAR_031980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031980	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	20	smart00032	NULL
3075	158517847	Disease	p.Cys431Ser	VAR_031981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031981	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	73	cd00033	NULL
3075	158517847	Disease	p.Cys431Ser	VAR_031981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031981	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	72	pfam00084	NULL
3075	158517847	Disease	p.Cys431Ser	VAR_031981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031981	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	87	smart00032	NULL
3075	158517847	Disease	p.Cys536Arg	VAR_019405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019405	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	44	pfam00084	NULL
3075	158517847	Disease	p.Cys536Arg	VAR_019405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019405	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	49	smart00032	NULL
3075	158517847	Disease	p.Cys536Arg	VAR_019405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019405	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	45	cd00033	NULL
3075	158517847	Disease	p.Val609Ile	VAR_063649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063649	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	70	pfam00084	NULL
3075	158517847	Disease	p.Val609Ile	VAR_063649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063649	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	85	smart00032	NULL
3075	158517847	Disease	p.Val609Ile	VAR_063649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063649	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	71	cd00033	NULL
3075	158517847	Disease	p.Cys630Trp	VAR_025865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025865	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	No Domain	N/A	NULL
3075	158517847	Disease	p.Cys673Ser	VAR_031982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031982	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	73	cd00033	NULL
3075	158517847	Disease	p.Cys673Ser	VAR_031982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031982	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	72	pfam00084	NULL
3075	158517847	Disease	p.Cys673Ser	VAR_031982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031982	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	87	smart00032	NULL
3075	158517847	Disease	p.Cys673Tyr	VAR_031983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031983	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	73	cd00033	NULL
3075	158517847	Disease	p.Cys673Tyr	VAR_031983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031983	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	72	pfam00084	NULL
3075	158517847	Disease	p.Cys673Tyr	VAR_031983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031983	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	87	smart00032	NULL
3075	158517847	Disease	p.Glu850Lys	VAR_025866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025866	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	84	smart00032	NULL
3075	158517847	Disease	p.Glu850Lys	VAR_025866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025866	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	69	pfam00084	NULL
3075	158517847	Disease	p.Glu850Lys	VAR_025866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025866	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	70	cd00033	NULL
3075	158517847	Disease	p.His893Arg	VAR_031984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031984	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	36	pfam00084	NULL
3075	158517847	Disease	p.His893Arg	VAR_031984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031984	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	41	smart00032	NULL
3075	158517847	Disease	p.His893Arg	VAR_031984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031984	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	37	cd00033	NULL
3075	158517847	Disease	p.Cys915Ser	VAR_031985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031985	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	72	pfam00084	NULL
3075	158517847	Disease	p.Cys915Ser	VAR_031985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031985	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	87	smart00032	NULL
3075	158517847	Disease	p.Cys915Ser	VAR_031985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031985	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	73	cd00033	NULL
3075	158517847	Disease	p.Gln950His	VAR_025867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025867	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	36	cd00033	NULL
3075	158517847	Disease	p.Gln950His	VAR_025867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025867	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	35	pfam00084	NULL
3075	158517847	Disease	p.Gln950His	VAR_025867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025867	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	40	smart00032	NULL
3075	158517847	Disease	p.Tyr951His	VAR_025868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025868	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	37	cd00033	NULL
3075	158517847	Disease	p.Tyr951His	VAR_025868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025868	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	36	pfam00084	NULL
3075	158517847	Disease	p.Tyr951His	VAR_025868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025868	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	41	smart00032	NULL
3075	158517847	Disease	p.Thr956Met	VAR_025869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025869	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	42	cd00033	NULL
3075	158517847	Disease	p.Thr956Met	VAR_025869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025869	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	41	pfam00084	NULL
3075	158517847	Disease	p.Thr956Met	VAR_025869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025869	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	46	smart00032	NULL
3075	158517847	Disease	p.Cys959Tyr	VAR_019406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019406	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	45	cd00033	NULL
3075	158517847	Disease	p.Cys959Tyr	VAR_019406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019406	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	44	pfam00084	NULL
3075	158517847	Disease	p.Cys959Tyr	VAR_019406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019406	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	49	smart00032	NULL
3075	158517847	Disease	p.Trp978Cys	VAR_025870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025870	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	84	cd00033	NULL
3075	158517847	Disease	p.Trp978Cys	VAR_025870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025870	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	84	pfam00084	NULL
3075	158517847	Disease	p.Trp978Cys	VAR_025870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025870	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	105	smart00032	NULL
3075	158517847	Disease	p.Tyr1021Phe	VAR_025871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025871	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	57	smart00032	NULL
3075	158517847	Disease	p.Tyr1021Phe	VAR_025871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025871	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	48	pfam00084	NULL
3075	158517847	Disease	p.Tyr1021Phe	VAR_025871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025871	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	54	cd00033	NULL
3075	158517847	Disease	p.Cys1043Arg	VAR_025872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025872	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	101	cd00033	NULL
3075	158517847	Disease	p.Gln1076Glu	VAR_025873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025873	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	48	smart00032	NULL
3075	158517847	Disease	p.Gln1076Glu	VAR_025873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025873	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	43	pfam00084	NULL
3075	158517847	Disease	p.Gln1076Glu	VAR_025873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025873	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	44	cd00033	NULL
3075	158517847	Disease	p.Asp1119Gly	VAR_025874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025874	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	16	smart00032	NULL
3075	158517847	Disease	p.Asp1119Gly	VAR_025874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025874	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	20	pfam00084	NULL
3075	158517847	Disease	p.Asp1119Gly	VAR_025874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025874	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	19	cd00033	NULL
3075	158517847	Disease	p.Val1134Gly	VAR_025875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025875	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	45	smart00032	NULL
3075	158517847	Disease	p.Val1134Gly	VAR_025875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025875	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	40	pfam00084	NULL
3075	158517847	Disease	p.Val1134Gly	VAR_025875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025875	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	41	cd00033	NULL
3075	158517847	Disease	p.Tyr1142Asp	VAR_025876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025876	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	64	smart00032	NULL
3075	158517847	Disease	p.Tyr1142Asp	VAR_025876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025876	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	49	pfam00084	NULL
3075	158517847	Disease	p.Tyr1142Asp	VAR_025876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025876	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	55	cd00033	NULL
3075	158517847	Disease	p.Trp1157Arg	VAR_025877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025877	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	105	smart00032	NULL
3075	158517847	Disease	p.Trp1157Arg	VAR_025877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025877	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	84	pfam00084	NULL
3075	158517847	Disease	p.Trp1157Arg	VAR_025877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025877	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	84	cd00033	NULL
3075	158517847	Disease	p.Cys1163Trp	VAR_025878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025878	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	101	cd00033	NULL
3075	158517847	Disease	p.Ile1169Leu	VAR_063650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063650	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	6	pfam00084	NULL
3075	158517847	Disease	p.Trp1183Cys	VAR_063651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063651	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	26	pfam00084	NULL
3075	158517847	Disease	p.Trp1183Leu	VAR_025879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025879	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	26	pfam00084	NULL
3075	158517847	Disease	p.Trp1183Arg	VAR_025880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025880	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	26	pfam00084	NULL
3075	158517847	Disease	p.Thr1184Arg	VAR_025881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025881	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	27	pfam00084	NULL
3075	158517847	Disease	p.Leu1189Arg	VAR_019407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019407	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	32	pfam00084	NULL
3075	158517847	Disease	p.Ser1191Leu	VAR_019408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019408	rs460897 Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	34	pfam00084	NULL
3075	158517847	Disease	p.Gly1194Asp	VAR_025882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025882	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	37	pfam00084	NULL
3075	158517847	Disease	p.Val1197Ala	VAR_025883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025883	rs460184 Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	40	pfam00084	NULL
3075	158517847	Disease	p.Glu1198Ala	VAR_025884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025884	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	41	pfam00084	NULL
3075	158517847	Disease	p.Phe1199Ser	VAR_031986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031986	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	42	pfam00084	NULL
3075	158517847	Disease	p.Arg1210Cys	VAR_025885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025885	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	61	pfam00084	NULL
3075	158517847	Disease	p.Arg1215Gly	VAR_025886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025886	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	69	pfam00084	NULL
3075	158517847	Disease	p.Arg1215Gln	VAR_025887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025887	- Complement factor H deficiency (CFH deficiency) [MIM:609814]	SWISS	69	pfam00084	NULL
3075	158517847	Disease	p.Pro1226Ser	VAR_025888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025888	- Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]	SWISS	95	pfam00084	NULL
3426	116133	Disease	p.Pro64Leu	VAR_063665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063665	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	25	smart00057	119392081,NP_000195
3426	116133	Disease	p.Gly119Arg	VAR_063666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063666	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	6	smart00202	119392081,NP_000195
3426	116133	Disease	p.Gly119Arg	VAR_063666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063666	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	3	pfam00530	119392081,NP_000195
3426	116133	Disease	p.His183Arg	VAR_063667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063667	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	114	smart00202	119392081,NP_000195
3426	116133	Disease	p.His183Arg	VAR_063667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063667	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	120	pfam00530	119392081,NP_000195
3426	116133	Disease	p.Gly243Asp	VAR_034907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034907	- Complement factor I deficiency (CFI deficiency) [MIM:610984]	SWISS	44	smart00192	119392081,NP_000195
3426	116133	Disease	p.Gly243Asp	VAR_034907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034907	- Complement factor I deficiency (CFI deficiency) [MIM:610984]	SWISS	40	pfam00057	119392081,NP_000195
3426	116133	Disease	p.Gly243Asp	VAR_034907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034907	- Complement factor I deficiency (CFI deficiency) [MIM:610984]	SWISS	53	cd00112	119392081,NP_000195
3426	116133	Disease	p.Gly287Arg	VAR_063668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063668	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	67	cd00112	119392081,NP_000195
3426	116133	Disease	p.Gly287Arg	VAR_063668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063668	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	58	smart00192	119392081,NP_000195
3426	116133	Disease	p.Gly287Arg	VAR_063668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063668	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	52	pfam00057	119392081,NP_000195
3426	116133	Disease	p.Arg317Trp	VAR_063669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063669	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	No Domain	N/A	119392081,NP_000195
3426	116133	Disease	p.Ile340Thr	VAR_030343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030343	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	2	smart00020	119392081,NP_000195
3426	116133	Disease	p.Ile416Leu	VAR_063670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063670	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	185	smart00020	119392081,NP_000195
3426	116133	Disease	p.Ile416Leu	VAR_063670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063670	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	126	cd00190	119392081,NP_000195
3426	116133	Disease	p.Ile416Leu	VAR_063670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063670	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	119	pfam00089	119392081,NP_000195
3426	116133	Disease	p.His418Leu	VAR_026757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026757	- Complement factor I deficiency (CFI deficiency) [MIM:610984]	SWISS	190	smart00020	119392081,NP_000195
3426	116133	Disease	p.His418Leu	VAR_026757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026757	- Complement factor I deficiency (CFI deficiency) [MIM:610984]	SWISS	128	cd00190	119392081,NP_000195
3426	116133	Disease	p.His418Leu	VAR_026757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026757	- Complement factor I deficiency (CFI deficiency) [MIM:610984]	SWISS	121	pfam00089	119392081,NP_000195
3426	116133	Disease	p.Asp519Asn	VAR_063671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063671	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	479	smart00020	119392081,NP_000195
3426	116133	Disease	p.Asp519Asn	VAR_063671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063671	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	325	cd00190	119392081,NP_000195
3426	116133	Disease	p.Asp519Asn	VAR_063671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063671	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	279	pfam00089	119392081,NP_000195
3426	116133	Disease	p.Lys522Thr	VAR_063672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063672	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	482	smart00020	119392081,NP_000195
3426	116133	Disease	p.Lys522Thr	VAR_063672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063672	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	328	cd00190	119392081,NP_000195
3426	116133	Disease	p.Lys522Thr	VAR_063672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063672	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	282	pfam00089	119392081,NP_000195
3426	116133	Disease	p.Asp524Val	VAR_030344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030344	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	493	smart00020	119392081,NP_000195
3426	116133	Disease	p.Asp524Val	VAR_030344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030344	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	353	cd00190	119392081,NP_000195
3426	116133	Disease	p.Asp524Val	VAR_030344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030344	- Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]	SWISS	284	pfam00089	119392081,NP_000195
1073	6831517	Disease	p.Ala35Thr	VAR_031989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031989	- Nemaline myopathy type 7 (NEM7) [MIM:610687]	SWISS	36	cd00013	14719392,NP_068733|33946278,NP_619579
1073	6831517	Disease	p.Ala35Thr	VAR_031989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031989	- Nemaline myopathy type 7 (NEM7) [MIM:610687]	SWISS	35	smart00102	14719392,NP_068733|33946278,NP_619579
1073	6831517	Disease	p.Ala35Thr	VAR_031989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031989	- Nemaline myopathy type 7 (NEM7) [MIM:610687]	SWISS	21	pfam00241	14719392,NP_068733|33946278,NP_619579
5199	464473	Disease	p.Arg100Trp	VAR_002002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002002	- Properdin deficiency (PFD) [MIM:312060]	SWISS	22	pfam00090	223671861,NP_001138724|4505737,NP_002612
5199	464473	Disease	p.Arg100Trp	VAR_002002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002002	- Properdin deficiency (PFD) [MIM:312060]	SWISS	32	smart00209	223671861,NP_001138724|4505737,NP_002612
5199	464473	Disease	p.Gly298Val	VAR_013139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013139	rs28935480 Properdin deficiency (PFD) [MIM:312060]	SWISS	40	pfam00090	223671861,NP_001138724|4505737,NP_002612
5199	464473	Disease	p.Gly298Val	VAR_013139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013139	rs28935480 Properdin deficiency (PFD) [MIM:312060]	SWISS	61	smart00209	223671861,NP_001138724|4505737,NP_002612
5199	464473	Disease	p.Gln343Arg	VAR_002003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002003	- Properdin deficiency (PFD) [MIM:312060]	SWISS	No Domain	N/A	223671861,NP_001138724|4505737,NP_002612
5199	464473	Disease	p.Tyr414Asp	VAR_002004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002004	- Properdin deficiency (PFD) [MIM:312060]	SWISS	No Domain	N/A	223671861,NP_001138724|4505737,NP_002612
1080	147744553	Disease	p.Ser13Phe	VAR_000101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000101	- Cystic fibrosis (CF) [MIM:219700]	SWISS	No Domain	N/A	90421313,NP_000483
1080	147744553	Disease	p.Arg31Leu	VAR_000103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000103	- Cystic fibrosis (CF) [MIM:219700]	SWISS	No Domain	N/A	90421313,NP_000483
1080	147744553	Disease	p.Ser42Phe	VAR_000104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000104	- Cystic fibrosis (CF) [MIM:219700]	SWISS	No Domain	N/A	90421313,NP_000483
1080	147744553	Disease	p.Asp44Gly	VAR_000105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000105	- Cystic fibrosis (CF) [MIM:219700]	SWISS	No Domain	N/A	90421313,NP_000483
1080	147744553	Disease	p.Ser50Tyr	VAR_000107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000107	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	No Domain	N/A	90421313,NP_000483
1080	147744553	Disease	p.Trp57Gly	VAR_000108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000108	- Cystic fibrosis (CF) [MIM:219700]	SWISS	No Domain	N/A	90421313,NP_000483
1080	147744553	Disease	p.Pro67Leu	VAR_000109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000109	- Cystic fibrosis (CF) [MIM:219700]	SWISS	5	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg74Trp	VAR_000110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000110	- Cystic fibrosis (CF) [MIM:219700]	SWISS	12	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly85Glu	VAR_000112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000112	- Cystic fibrosis (CF) [MIM:219700]	SWISS	41	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly85Glu	VAR_000112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000112	- Cystic fibrosis (CF) [MIM:219700]	SWISS	5	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Phe87Leu	VAR_000113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000113	- Cystic fibrosis (CF) [MIM:219700]	SWISS	43	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Phe87Leu	VAR_000113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000113	- Cystic fibrosis (CF) [MIM:219700]	SWISS	7	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Gly91Arg	VAR_000114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000114	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly91Arg	VAR_000114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000114	- Cystic fibrosis (CF) [MIM:219700]	SWISS	11	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Glu92Lys	VAR_000115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000115	- Cystic fibrosis (CF) [MIM:219700]	SWISS	48	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Glu92Lys	VAR_000115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000115	- Cystic fibrosis (CF) [MIM:219700]	SWISS	12	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Gln98Arg	VAR_000116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000116	- Cystic fibrosis (CF) [MIM:219700]	SWISS	58	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gln98Arg	VAR_000116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000116	- Cystic fibrosis (CF) [MIM:219700]	SWISS	22	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Ile105Ser	VAR_000117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000117	- Cystic fibrosis (CF) [MIM:219700]	SWISS	103	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ile105Ser	VAR_000117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000117	- Cystic fibrosis (CF) [MIM:219700]	SWISS	29	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Tyr109Cys	VAR_000118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000118	- Cystic fibrosis (CF) [MIM:219700]	SWISS	107	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Tyr109Cys	VAR_000118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000118	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Asp110His	VAR_000119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000119	- Cystic fibrosis (CF) [MIM:219700]	SWISS	108	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Asp110His	VAR_000119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000119	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Pro111Leu	VAR_000120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000120	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	109	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Pro111Leu	VAR_000120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000120	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	48	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg117Cys	VAR_000121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000121	- Cystic fibrosis (CF) [MIM:219700]	SWISS	266	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg117Cys	VAR_000121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000121	- Cystic fibrosis (CF) [MIM:219700]	SWISS	73	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg117His	VAR_000122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000122	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	266	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg117His	VAR_000122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000122	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	73	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg117His	VAR_000122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000122	- Cystic fibrosis (CF) [MIM:219700]	SWISS	266	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg117His	VAR_000122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000122	- Cystic fibrosis (CF) [MIM:219700]	SWISS	73	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg117Leu	VAR_000123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000123	- Cystic fibrosis (CF) [MIM:219700]	SWISS	266	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg117Leu	VAR_000123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000123	- Cystic fibrosis (CF) [MIM:219700]	SWISS	73	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg117Pro	VAR_000124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000124	- Cystic fibrosis (CF) [MIM:219700]	SWISS	266	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg117Pro	VAR_000124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000124	- Cystic fibrosis (CF) [MIM:219700]	SWISS	73	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Ala120Thr	VAR_000125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000125	- Cystic fibrosis (CF) [MIM:219700]	SWISS	269	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ala120Thr	VAR_000125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000125	- Cystic fibrosis (CF) [MIM:219700]	SWISS	76	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.His139Arg	VAR_000126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000126	- Cystic fibrosis (CF) [MIM:219700]	SWISS	293	COG1132	90421313,NP_000483
1080	147744553	Disease	p.His139Arg	VAR_000126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000126	- Cystic fibrosis (CF) [MIM:219700]	SWISS	119	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Ala141Asp	VAR_000127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000127	- Cystic fibrosis (CF) [MIM:219700]	SWISS	295	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ala141Asp	VAR_000127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000127	- Cystic fibrosis (CF) [MIM:219700]	SWISS	121	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Ile148Thr	VAR_000128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000128	rs35516286 Cystic fibrosis (CF) [MIM:219700]	SWISS	302	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ile148Thr	VAR_000128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000128	rs35516286 Cystic fibrosis (CF) [MIM:219700]	SWISS	131	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Gly149Arg	VAR_000129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000129	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	303	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly149Arg	VAR_000129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000129	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	132	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Gly178Arg	VAR_000130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000130	- Cystic fibrosis (CF) [MIM:219700]	SWISS	386	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly178Arg	VAR_000130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000130	- Cystic fibrosis (CF) [MIM:219700]	SWISS	169	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Glu193Lys	VAR_000132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000132	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	402	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Glu193Lys	VAR_000132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000132	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	184	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Glu193Lys	VAR_000132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000132	- Cystic fibrosis (CF) [MIM:219700]	SWISS	402	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Glu193Lys	VAR_000132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000132	- Cystic fibrosis (CF) [MIM:219700]	SWISS	184	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.His199Gln	VAR_000133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000133	- Cystic fibrosis (CF) [MIM:219700]	SWISS	443	COG1132	90421313,NP_000483
1080	147744553	Disease	p.His199Gln	VAR_000133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000133	- Cystic fibrosis (CF) [MIM:219700]	SWISS	191	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.His199Tyr	VAR_000134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000134	- Cystic fibrosis (CF) [MIM:219700]	SWISS	443	COG1132	90421313,NP_000483
1080	147744553	Disease	p.His199Tyr	VAR_000134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000134	- Cystic fibrosis (CF) [MIM:219700]	SWISS	191	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Pro205Ser	VAR_000135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000135	- Cystic fibrosis (CF) [MIM:219700]	SWISS	460	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Pro205Ser	VAR_000135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000135	- Cystic fibrosis (CF) [MIM:219700]	SWISS	198	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Leu206Trp	VAR_000136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000136	- Cystic fibrosis (CF) [MIM:219700]	SWISS	461	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Leu206Trp	VAR_000136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000136	- Cystic fibrosis (CF) [MIM:219700]	SWISS	199	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Cys225Arg	VAR_000137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000137	- Cystic fibrosis (CF) [MIM:219700]	SWISS	510	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Cys225Arg	VAR_000137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000137	- Cystic fibrosis (CF) [MIM:219700]	SWISS	223	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Met244Lys	VAR_000138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000138	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	599	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Met244Lys	VAR_000138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000138	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	244	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg258Gly	VAR_000139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000139	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	637	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg258Gly	VAR_000139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000139	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	268	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Asn287Tyr	VAR_000140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000140	- Cystic fibrosis (CF) [MIM:219700]	SWISS	681	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Asn287Tyr	VAR_000140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000140	- Cystic fibrosis (CF) [MIM:219700]	SWISS	302	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg297Gln	VAR_000141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000141	- Cystic fibrosis (CF) [MIM:219700]	SWISS	731	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg297Gln	VAR_000141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000141	- Cystic fibrosis (CF) [MIM:219700]	SWISS	314	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Tyr301Cys	VAR_000142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000142	- Cystic fibrosis (CF) [MIM:219700]	SWISS	735	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Tyr301Cys	VAR_000142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000142	- Cystic fibrosis (CF) [MIM:219700]	SWISS	318	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Ser307Asn	VAR_000143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000143	- Cystic fibrosis (CF) [MIM:219700]	SWISS	741	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ser307Asn	VAR_000143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000143	- Cystic fibrosis (CF) [MIM:219700]	SWISS	324	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Phe311Leu	VAR_000144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000144	- Cystic fibrosis (CF) [MIM:219700]	SWISS	763	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Phe311Leu	VAR_000144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000144	- Cystic fibrosis (CF) [MIM:219700]	SWISS	329	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Gly314Glu	VAR_000146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000146	- Cystic fibrosis (CF) [MIM:219700]	SWISS	766	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly314Glu	VAR_000146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000146	- Cystic fibrosis (CF) [MIM:219700]	SWISS	332	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Gly314Arg	VAR_000147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000147	- Cystic fibrosis (CF) [MIM:219700]	SWISS	766	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly314Arg	VAR_000147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000147	- Cystic fibrosis (CF) [MIM:219700]	SWISS	332	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg334Trp	VAR_000148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000148	- Cystic fibrosis (CF) [MIM:219700]	SWISS	830	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg334Trp	VAR_000148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000148	- Cystic fibrosis (CF) [MIM:219700]	SWISS	362	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Ile336Lys	VAR_000150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000150	- Cystic fibrosis (CF) [MIM:219700]	SWISS	835	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ile336Lys	VAR_000150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000150	- Cystic fibrosis (CF) [MIM:219700]	SWISS	364	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Thr338Ile	VAR_000151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000151	- Cystic fibrosis (CF) [MIM:219700]	SWISS	837	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Thr338Ile	VAR_000151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000151	- Cystic fibrosis (CF) [MIM:219700]	SWISS	367	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Leu346Pro	VAR_000152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000152	- Cystic fibrosis (CF) [MIM:219700]	SWISS	845	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Leu346Pro	VAR_000152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000152	- Cystic fibrosis (CF) [MIM:219700]	SWISS	375	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg347His	VAR_000153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000153	- Cystic fibrosis (CF) [MIM:219700]	SWISS	846	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg347His	VAR_000153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000153	- Cystic fibrosis (CF) [MIM:219700]	SWISS	376	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg347Leu	VAR_000154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000154	- Cystic fibrosis (CF) [MIM:219700]	SWISS	846	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg347Leu	VAR_000154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000154	- Cystic fibrosis (CF) [MIM:219700]	SWISS	376	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg347Pro	VAR_000155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000155	- Cystic fibrosis (CF) [MIM:219700]	SWISS	846	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg347Pro	VAR_000155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000155	- Cystic fibrosis (CF) [MIM:219700]	SWISS	376	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg352Gln	VAR_000156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000156	- Cystic fibrosis (CF) [MIM:219700]	SWISS	866	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gln359Lys	VAR_000157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000157	- Cystic fibrosis (CF) [MIM:219700]	SWISS	873	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1203	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	29	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	32	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	48	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	36	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	54	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	35	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	32	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	67	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	74	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	56	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	30	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	36	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	33	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	32	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	34	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	54	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	30	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	44	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	39	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	61	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	34	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	42	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	58	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	53	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	72	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	59	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	102	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	64	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	6	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	43	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	59	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	29	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	67	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	32	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	51	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	36	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	41	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	37	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	39	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	87	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	50	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	32	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	28	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ala455Glu	VAR_000160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000160	- Cystic fibrosis (CF) [MIM:219700]	SWISS	33	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1211	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	30	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	33	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	49	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	37	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	55	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	36	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	33	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	68	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	75	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	57	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	31	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	37	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	34	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	41	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	33	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	35	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	55	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	31	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	45	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	62	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	35	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	43	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	59	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	54	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	73	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	60	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	103	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	65	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	7	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	48	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	44	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	60	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	41	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	30	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	68	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	33	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	52	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	37	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	42	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	38	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	48	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	48	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	88	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	51	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	33	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	29	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Val456Phe	VAR_000161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000161	- Cystic fibrosis (CF) [MIM:219700]	SWISS	34	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1213	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	32	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	35	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	51	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	39	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	57	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	38	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	35	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	70	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	77	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	59	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	33	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	39	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	36	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	43	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	35	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	37	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	57	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	33	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	42	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	64	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	37	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	45	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	61	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	56	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	75	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	62	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	105	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	67	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	9	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	50	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	62	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	43	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	32	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	70	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	35	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	54	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	39	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	44	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	50	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	42	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	50	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	90	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	53	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	35	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	31	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Gly458Val	VAR_000162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000162	- Cystic fibrosis (CF) [MIM:219700]	SWISS	36	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1239	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	54	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	57	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	73	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	65	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	84	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	60	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	57	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	92	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	99	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	81	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	57	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	61	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	58	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	70	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	57	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	59	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	79	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	55	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	86	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	227	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	90	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	58	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	22	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	67	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	100	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	78	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	97	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	84	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	131	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	107	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	34	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	72	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	72	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	87	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	65	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	56	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	92	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	57	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	76	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	61	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	66	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	62	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	78	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	64	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	74	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	79	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	57	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	53	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Gly480Cys	VAR_000165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000165	- Cystic fibrosis (CF) [MIM:219700]	SWISS	58	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1271	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	77	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	82	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	93	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	80	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	122	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	70	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	67	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	104	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	113	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	103	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	91	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	72	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	81	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	83	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	76_G	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	67_G	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	107	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	73	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	109	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	421	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	103	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	83	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	59	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	96	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	133	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	91	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	113	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	98	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	165	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	201	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	63	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	85	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	86	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	127	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	77	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	72	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	128	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	96	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	94	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	80	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	86_G	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	88	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	118	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	91	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	110	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	227	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	103	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	81	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	65	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ser492Phe	VAR_000166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000166	- Cystic fibrosis (CF) [MIM:219700]	SWISS	83	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1291	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	90	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	94	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	116	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	89	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	137	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	97	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	95	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	116	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	125	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	125	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	103	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	99	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	94	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	117	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	91	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	95	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	125	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	92	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	123	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	435	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	222	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	95	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	102	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	109	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	147	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	120	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	124	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	127	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	177	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	214	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	82	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	115	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	112	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	107	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	85	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	140	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	108	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	124	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	99	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	99	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	101	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	134	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	105	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	125	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	239	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	116	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	97	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	95	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Glu504Gln	VAR_000167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000167	- Cystic fibrosis (CF) [MIM:219700]	SWISS	95	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	1311	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	96_G	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	105	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	134	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	98	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	146	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	107	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	109	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	125	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	133_G	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	134	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	112	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	113	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	103	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	124	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	105	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	109	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	139	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	101	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	132	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	450	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	231	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	105	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	195	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	124	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	161	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	129	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	133	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	141	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	186	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	223	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	213	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	342	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	121	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	151	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	126	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	93	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	154	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	117	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	131	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	103_G	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	105_G	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	107_G	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	142_G	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	128	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	132	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	248	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	122_G	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	103_G	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	104	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Asp513Gly	VAR_000173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000173	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	104	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1332	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	101	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	112	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	105	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	153	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	114	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	114_G	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	132	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	140	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	396	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	123	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	124	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	121	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	131	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	108_G	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	118	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	108	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	139	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	461	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	238	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	112	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	202	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	133	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	168	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	170	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	140	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	150	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	197	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	230	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	220	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	351	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	128	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	172	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	133	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	104	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	124	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	136_G	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	107	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	110	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	114	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	149	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	137	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	146	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1242	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	127	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	109	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	113	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Val520Phe	VAR_000174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000174	- Cystic fibrosis (CF) [MIM:219700]	SWISS	111	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	1381	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	126	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	141	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	161_G	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	237	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	181	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	138	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	127	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	156	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	157	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	412_G	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	136	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	142_G	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	137_G	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	165	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	129_G	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	134_G	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	166_G	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	126_G	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	174	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	479_G	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	293	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	152	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	246	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	148_G	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	197_G	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	195	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	161_G	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	166_G	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	248	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	297	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	244	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	367	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	158_G	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	192_G	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	146	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	119_G	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	179_G	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	148	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	153	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	135	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	131	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	143	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	173_G	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	153_G	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	174	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	1266	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	177	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	148_G	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	123	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Gly544Val	VAR_000175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000175	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	138	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1386	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	131	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	146	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	252	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	186	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	143	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	138	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	166	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	415	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	144	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	139	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	172	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	132	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	136	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	169	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	130	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	179	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	482	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	301	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	157	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	251	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	201	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	200	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	169	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	168	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	253	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	302	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	249	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	372	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	195	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	122	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	153	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	158	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	140	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	148	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	177	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	156	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	187	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1271	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	196	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	150	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	134	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ser549Ile	VAR_000177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000177	- Cystic fibrosis (CF) [MIM:219700]	SWISS	143	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1386	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	131	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	146	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	252	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	186	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	143	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	138	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	166	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	415	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	144	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	139	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	172	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	132	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	136	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	169	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	130	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	179	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	482	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	301	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	157	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	251	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	201	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	200	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	169	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	168	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	253	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	302	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	249	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	372	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	195	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	122	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	153	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	158	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	140	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	148	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	177	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	156	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	187	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1271	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	196	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	150	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	134	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ser549Asn	VAR_000176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000176	- Cystic fibrosis (CF) [MIM:219700]	SWISS	143	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1386	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	131	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	146	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	252	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	186	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	143	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	138	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	166	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	415	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	144	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	139	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	172	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	132	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	136	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	169	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	130	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	179	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	482	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	301	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	157	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	251	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	201	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	200	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	169	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	168	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	253	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	302	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	249	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	372	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	195	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	122	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	153	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	158	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	140	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	148	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	177	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	156	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	187	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1271	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	196	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	150	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	134	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ser549Arg	VAR_000178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000178	- Cystic fibrosis (CF) [MIM:219700]	SWISS	143	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1388	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	133	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	148	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	165	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	254	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	188	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	145	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	140	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	168	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	417	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	143	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	146	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	174	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	134	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	138	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	132	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	484	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	303	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	159	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	253	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	153	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	203	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	202	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	170	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	255	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	304	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	251	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	374	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	197	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	153	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	124	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	183	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	155	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	160	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	142	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	143	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	150	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	179	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	158	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	189	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1273	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	198	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	136	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Gly551Asp	VAR_000179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000179	- Cystic fibrosis (CF) [MIM:219700]	SWISS	145	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1388	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	133	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	148	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	165	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	254	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	188	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	145	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	140	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	168	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	417	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	143	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	146	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	174	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	134	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	138	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	132	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	484	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	303	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	159	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	253	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	153	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	203	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	202	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	170	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	255	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	304	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	251	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	374	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	197	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	153	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	124	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	183	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	155	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	160	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	142	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	143	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	150	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	179	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	158	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	189	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1273	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	198	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	136	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Gly551Ser	VAR_000180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000180	- Cystic fibrosis (CF) [MIM:219700]	SWISS	145	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1390	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	135	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	150	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	167	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	256	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	190	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	147	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	142	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	165	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	170	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	419	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	145	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	148	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	143	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	176	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	136	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	140	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	173	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	134	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	183	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	486	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	306_G	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	255	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	155	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	205	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	204	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	173	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	172	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	257	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	310	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	253	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	376	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	165	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	199	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	155	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	126	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	185	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	157	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	162	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	144	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	145	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	160	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	191	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1279	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	200	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	154	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	138	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Arg553Gln	VAR_000181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000181	- Cystic fibrosis (CF) [MIM:219700]	SWISS	147	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1395	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	140	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	155	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	172	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	261	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	195	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	147	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	170	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	175	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	426	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	150	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	153	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	148	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	145	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	178	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	139	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	188	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	491	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	310	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	166	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	262	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	160	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	210	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	209	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	178	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	177	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	262	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	315	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	259	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	381	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	170	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	204	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	160	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	131	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	190	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	162	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	167	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	149	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	150	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	157	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	186	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	165	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	196	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1284	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	205	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	159	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	143	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Leu558Ser	VAR_000182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000182	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1396	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	156	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	173	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	262	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	196	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	153	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	148	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	176	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	427	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	154	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	149	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	182	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	142	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	146	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	179	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	140	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	189	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	492	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	311	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	167	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	263	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	211	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	210	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	179	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	178	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	263	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	316	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	260	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	382	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	205	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	132	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	191	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	168	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	150	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	158	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	187	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	166	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	197	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1285	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	206	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	160	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	144	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ala559Thr	VAR_000183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000183	- Cystic fibrosis (CF) [MIM:219700]	SWISS	153	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1397	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	142	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	157	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	174	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	263	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	197	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	154	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	149	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	172	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	177	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	428	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	155	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	150	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	183	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	143	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	147	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	180	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	190	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	493	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	312	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	168	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	264	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	162	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	212	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	211	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	180	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	179	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	264	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	317	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	261	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	383	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	172	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	211	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	162	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	133	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	192	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	164	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	169	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	159	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	188	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	167	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	198	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1286	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	207	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	145	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Arg560Lys	VAR_000184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000184	- Cystic fibrosis (CF) [MIM:219700]	SWISS	154	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1397	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	142	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	157	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	174	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	263	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	197	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	154	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	149	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	172	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	177	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	428	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	155	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	150	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	183	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	143	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	147	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	180	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	190	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	493	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	312	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	168	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	264	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	162	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	212	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	211	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	180	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	179	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	264	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	317	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	261	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	383	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	172	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	211	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	162	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	133	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	192	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	164	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	169	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	159	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	188	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	167	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	198	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1286	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	207	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	145	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Arg560Ser	VAR_000185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000185	- Cystic fibrosis (CF) [MIM:219700]	SWISS	154	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1397	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	142	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	157	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	174	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	263	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	197	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	154	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	149	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	172	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	177	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	428	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	155	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	150	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	183	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	143	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	147	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	180	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	190	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	493	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	312	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	168	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	264	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	162	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	212	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	211	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	180	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	179	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	264	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	317	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	261	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	383	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	172	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	211	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	162	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	133	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	192	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	164	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	169	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	159	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	188	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	167	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	198	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1286	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	207	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	145	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Arg560Thr	VAR_000186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000186	- Cystic fibrosis (CF) [MIM:219700]	SWISS	154	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1399	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	144	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	159	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	176	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	265	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	199	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	156	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	174	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	179	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	430	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	154	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	157	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	185	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	145	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	149	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	182	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	143	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	192	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	495	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	314	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	170	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	266	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	164	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	214	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	213	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	182	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	266	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	319	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	263	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	385	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	174	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	213	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	164	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	135	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	194	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	166	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	153	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	154	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	190	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	169	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	200	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1288	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	209	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	147	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Val562Leu	VAR_000188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000188	- Cystic fibrosis (CF) [MIM:219700]	SWISS	156	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1400	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	145	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	160	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	177	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	266	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	200	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	157	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	175	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	180	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	431	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	155	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	158	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	153	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	186	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	146	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	150	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	183	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	144	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	193	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	496	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	315	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	267	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	165	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	215	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	214	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	183	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	182	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	267	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	320	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	264	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	386	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	175	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	214	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	165	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	136	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	195	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	167	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	172	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	154	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	155	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	162	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	191	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	170	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	201	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1289	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	210	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	164	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	148	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Tyr563Asn	VAR_000189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000189	- Cystic fibrosis (CF) [MIM:219700]	SWISS	157	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1408	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	166	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	183	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	273	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	206	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	158	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	186	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	438	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	164	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	159	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	198	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	156	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	191	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	150	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	205	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	508	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	326	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	177	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	276	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	221	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	220	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	189	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	188	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	273	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	328	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	311	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	392	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	221	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	142	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	201	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	173	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	178	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	160	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	197	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	176	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	213	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1309	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	217	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	170	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	154	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Cys	VAR_000190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000190	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1408	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	166	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	183	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	273	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	206	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	158	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	186	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	438	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	164	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	159	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	198	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	156	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	191	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	150	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	205	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	508	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	326	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	177	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	276	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	221	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	220	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	189	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	188	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	273	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	328	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	311	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	392	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	221	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	142	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	201	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	173	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	178	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	160	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	197	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	176	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	213	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1309	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	217	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	170	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	154	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Tyr569Asp	VAR_000191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000191	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1408	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	166	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	183	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	273	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	206	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	158	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	186	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	438	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	164	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	159	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	198	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	156	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	191	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	150	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	205	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	508	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	326	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	177	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	276	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	221	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	220	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	189	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	188	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	273	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	328	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	311	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	392	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	221	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	142	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	201	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	173	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	178	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	160	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	197	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	176	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	213	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1309	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	217	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	170	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	154	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Tyr569His	VAR_000192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000192	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1410	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	153	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	168	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	185	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	275	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	208	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	165	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	160	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	183	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	188	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	440	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	166	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	200	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	154	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	158	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	193	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	207	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	510	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	328	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	179	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	278	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	173	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	223	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	222	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	191	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	190	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	275	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	330	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	313	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	394	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	183	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	223	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	173	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	144	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	203	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	175	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	180	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	162	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	173	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	199	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	178	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	215	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1311	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	219	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	172	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	156	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Leu571Ser	VAR_000193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000193	- Cystic fibrosis (CF) [MIM:219700]	SWISS	165	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1411	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	154	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	169	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	186	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	276	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	209	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	166	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	184	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	189	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	441	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	164	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	167	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	162	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	201	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	155	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	159	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	194	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	153	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	208	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	511	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	329	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	180	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	279	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	174	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	224	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	223	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	192	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	191	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	276	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	331	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	314	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	395	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	184	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	224	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	174	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	145	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	204	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	176	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	164	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	174	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	200	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	179	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	216	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1312	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	220	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	173	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	157	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Asp572Asn	VAR_000194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000194	- Cystic fibrosis (CF) [MIM:219700]	SWISS	166	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1413	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	156	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	188	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	278	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	211	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	168	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	186	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	191	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	443	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	166	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	169	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	164	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	203	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	157	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	196	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	155	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	210	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	513	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	331	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	182	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	281	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	176	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	226	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	225	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	194	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	193	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	278	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	333	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	317	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	397	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	186	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	226	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	176	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	147	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	206	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	178	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	183	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	165	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	166	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	176	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	202	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	218	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1314	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	222	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	175	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	159	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Pro574His	VAR_000195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000195	- Cystic fibrosis (CF) [MIM:219700]	SWISS	168	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1418	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	176	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	193	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	283	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	216	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	173	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	168	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	191	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	196	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	449	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	174	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	169	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	208	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	162	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	166	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	201	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	160	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	215	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	518	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	336	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	187	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	231	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	230	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	199	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	198	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	283	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	338	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	322	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	402	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	189_G	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	231	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	211	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	183	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	188	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	170	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	207	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	186	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	223	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1319	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	227	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	180	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	164	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Asp579Gly	VAR_000197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000197	- Cystic fibrosis (CF) [MIM:219700]	SWISS	173	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1447	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	184	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	197	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	216	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	307	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	239	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	195	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	191	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	213	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	219	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	478	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	194	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	197	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	192	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	231	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	184	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	184	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	226	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	302	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	541	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	359	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	208	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	204	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	277	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	253	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	222	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	221	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	310	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	369	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	365	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	426	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	211	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	255	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	204	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	175	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	233	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	207	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	210	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	191	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	194	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	203	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	232	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	212	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	246	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1351	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	253	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	203	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	184	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ile601Phe	VAR_000198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000198	- Cystic fibrosis (CF) [MIM:219700]	SWISS	194	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1458	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	193	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	206	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	226	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	316	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	248	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	204	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	201	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	222	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	228	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	488	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	203	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	207	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	202	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	240	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	193	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	199	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	235	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	190	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	315	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	550	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	368	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	217	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	213	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	289	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	263	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	232	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	231	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	319	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	378	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	374	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	436	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	222	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	264	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	213	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	243	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	216	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	220	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	200	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	204	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	214	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	241	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	222	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	256	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1360	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	261	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	212	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	197	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Leu610Ser	VAR_000199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000199	- Cystic fibrosis (CF) [MIM:219700]	SWISS	203	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1462	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	197	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	209	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	229	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	319	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	252	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	207	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	204	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	225	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	231	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	491	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	206	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	210	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	205	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	245	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	197	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	202	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	242	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	193	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	318	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	554	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	372	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	220	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	216	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	290	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	266	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	235	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	234	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	327	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	383	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	377	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	439	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	225	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	269	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	217	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	184	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	247	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	219	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	224	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	203	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	207	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	217	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	246	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	225	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	260	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1363	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	264	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	215	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	200	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ala613Thr	VAR_000200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000200	- Cystic fibrosis (CF) [MIM:219700]	SWISS	206	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1463	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	198	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	210	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	230	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	322	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	253	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	208	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	205	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	226	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	233	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	492	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	207	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	211	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	206	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	246	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	198	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	203	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	243	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	194	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	319	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	555	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	373	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	221	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	217	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	291	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	267	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	236	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	235	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	328	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	384	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	378	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	440	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	229	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	270	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	218	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	185	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	248	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	220	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	225	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	204	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	208	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	218	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	247	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	226	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	261	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1374	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	265	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	218	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	201	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Asp614Gly	VAR_000201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000201	- Cystic fibrosis (CF) [MIM:219700]	SWISS	207	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1467	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	202	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	214	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	234	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	326	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	257	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	212	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	209	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	230	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	237	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	496	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	211	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	215	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	210	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	250	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	202	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	207	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	247	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	198	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	323	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	559	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	377	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	225	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	221	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	295	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	271	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	240	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	239	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	332	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	388	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	382	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	444	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	233	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	282	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	222	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	192	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	252	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	224	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	229	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	208	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	212	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	222	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	251	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	238	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	265	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1378	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	269	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	222	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	205	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Ile618Thr	VAR_000202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000202	- Cystic fibrosis (CF) [MIM:219700]	SWISS	211	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1468	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	203	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	215	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	235	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	327	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	258	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	213	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	210	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	231	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	238	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	497	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	212	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	216	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	211	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	251	cd03216	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	203	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	208	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	248	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	199	cd03231	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	324	cd03234	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	560	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	378	cd03215	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	226	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	222	COG4181	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	296	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	272	cd03301	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	241	cd03220	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	240	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	333	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	389	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	383	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	445	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	234	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	283	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	223	cd03297	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	193	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	253	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	225	cd03290	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	230	cd03267	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	209	COG4133	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	213	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	223	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	252	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	239	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	266	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1379	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	270	cd03233	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	223	cd03235	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	206	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Leu619Ser	VAR_000203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000203	- Cystic fibrosis (CF) [MIM:219700]	SWISS	212	cd03254	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1469	COG1132	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	204	cd03299	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	216	cd03247	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	236	COG1118	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	328	cd03221	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	259	cd03229	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	214	cd03246	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	211	cd03295	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	232	cd03291	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	239	COG1134	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	498	COG3839	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	213	cd03222	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	217	COG1125	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	212	cd03296	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	252	cd03216	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	204	COG4152	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	209	cd03300	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	249	cd03230	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	200	cd03231	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	325	cd03234	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	561	COG1122	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	379	cd03215	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	227	cd03289	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	223	COG4181	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	297	cd03263	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	273	cd03301	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	242	cd03220	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	241	cd03294	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	334	cd03250	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	390	cd03228	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	384	smart00382	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	446	COG3842	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	235	COG4674	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	284	COG1131	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	224	cd03297	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	194	cd03237	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	254	COG4586	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	226	cd03290	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	231	cd03267	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	210	COG4133	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	214	COG4525	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	224	COG1137	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	253	cd03225	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	240	COG1116	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	267	COG1129	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1380	cd00267	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	271	cd03233	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	224	cd03235	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	207	COG4148	90421313,NP_000483
1080	147744553	Disease	p.His620Pro	VAR_000204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000204	- Cystic fibrosis (CF) [MIM:219700]	SWISS	213	cd03254	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1469	COG1132	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	204	cd03299	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	216	cd03247	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	236	COG1118	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	328	cd03221	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	259	cd03229	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	214	cd03246	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	211	cd03295	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	232	cd03291	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	239	COG1134	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	498	COG3839	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	213	cd03222	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	217	COG1125	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	212	cd03296	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	252	cd03216	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	204	COG4152	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	209	cd03300	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	249	cd03230	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	200	cd03231	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	325	cd03234	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	561	COG1122	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	379	cd03215	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	227	cd03289	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	223	COG4181	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	297	cd03263	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	273	cd03301	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	242	cd03220	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	241	cd03294	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	334	cd03250	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	390	cd03228	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	384	smart00382	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	446	COG3842	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	235	COG4674	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	284	COG1131	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	224	cd03297	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	194	cd03237	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	254	COG4586	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	226	cd03290	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	231	cd03267	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	210	COG4133	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	214	COG4525	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	224	COG1137	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	253	cd03225	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	240	COG1116	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	267	COG1129	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1380	cd00267	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	271	cd03233	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	224	cd03235	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	207	COG4148	90421313,NP_000483
1080	147744553	Disease	p.His620Gln	VAR_000205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000205	- Cystic fibrosis (CF) [MIM:219700]	SWISS	213	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1493	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	212	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	259	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	220	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	240	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	247	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	516	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	221	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	226	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	220	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	212	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	217	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	665	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	235	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	306	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	250	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	392	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	454	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	243	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	292	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	202	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	262	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	220_G	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	232	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	254	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	273	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	215	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Gly628Arg	VAR_000207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000207	- Cystic fibrosis (CF) [MIM:219700]	SWISS	221	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1498	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	218	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	264	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	225	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	245	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	252	COG1134	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	521	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	237	cd03222	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	232	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	225	cd03296	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	217	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	222	cd03300	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	707	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	240	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	311	cd03263	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	256	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	397	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	459	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	248	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	300	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	218	cd03237	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	267	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	221	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	237	COG1137	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	263	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	280	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	220	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Leu633Pro	VAR_000208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000208	- Cystic fibrosis (CF) [MIM:219700]	SWISS	226	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	VAR_000209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000209	- Cystic fibrosis (CF) [MIM:219700]	SWISS	233	cd03299	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	VAR_000209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000209	- Cystic fibrosis (CF) [MIM:219700]	SWISS	291	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	VAR_000209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000209	- Cystic fibrosis (CF) [MIM:219700]	SWISS	241	cd03295	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	VAR_000209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000209	- Cystic fibrosis (CF) [MIM:219700]	SWISS	260	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	VAR_000209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000209	- Cystic fibrosis (CF) [MIM:219700]	SWISS	537	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	VAR_000209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000209	- Cystic fibrosis (CF) [MIM:219700]	SWISS	247	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	VAR_000209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000209	- Cystic fibrosis (CF) [MIM:219700]	SWISS	246	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	VAR_000209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000209	- Cystic fibrosis (CF) [MIM:219700]	SWISS	754	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	VAR_000209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000209	- Cystic fibrosis (CF) [MIM:219700]	SWISS	255	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	VAR_000209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000209	- Cystic fibrosis (CF) [MIM:219700]	SWISS	272	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	VAR_000209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000209	- Cystic fibrosis (CF) [MIM:219700]	SWISS	412	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	VAR_000209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000209	- Cystic fibrosis (CF) [MIM:219700]	SWISS	476	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	VAR_000209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000209	- Cystic fibrosis (CF) [MIM:219700]	SWISS	262	COG4674	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	VAR_000209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000209	- Cystic fibrosis (CF) [MIM:219700]	SWISS	327	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	VAR_000209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000209	- Cystic fibrosis (CF) [MIM:219700]	SWISS	300	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	VAR_000209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000209	- Cystic fibrosis (CF) [MIM:219700]	SWISS	244	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	VAR_000209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000209	- Cystic fibrosis (CF) [MIM:219700]	SWISS	284	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	VAR_000209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000209	- Cystic fibrosis (CF) [MIM:219700]	SWISS	295	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Asp648Val	VAR_000209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000209	- Cystic fibrosis (CF) [MIM:219700]	SWISS	230_G	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Asp651Asn	VAR_000210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000210	- Cystic fibrosis (CF) [MIM:219700]	SWISS	294	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Asp651Asn	VAR_000210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000210	- Cystic fibrosis (CF) [MIM:219700]	SWISS	263	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Asp651Asn	VAR_000210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000210	- Cystic fibrosis (CF) [MIM:219700]	SWISS	540	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Asp651Asn	VAR_000210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000210	- Cystic fibrosis (CF) [MIM:219700]	SWISS	251	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Asp651Asn	VAR_000210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000210	- Cystic fibrosis (CF) [MIM:219700]	SWISS	249	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Asp651Asn	VAR_000210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000210	- Cystic fibrosis (CF) [MIM:219700]	SWISS	258	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Asp651Asn	VAR_000210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000210	- Cystic fibrosis (CF) [MIM:219700]	SWISS	275	cd03294	90421313,NP_000483
1080	147744553	Disease	p.Asp651Asn	VAR_000210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000210	- Cystic fibrosis (CF) [MIM:219700]	SWISS	415	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Asp651Asn	VAR_000210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000210	- Cystic fibrosis (CF) [MIM:219700]	SWISS	479	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Asp651Asn	VAR_000210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000210	- Cystic fibrosis (CF) [MIM:219700]	SWISS	330	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Asp651Asn	VAR_000210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000210	- Cystic fibrosis (CF) [MIM:219700]	SWISS	303	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Asp651Asn	VAR_000210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000210	- Cystic fibrosis (CF) [MIM:219700]	SWISS	247	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Asp651Asn	VAR_000210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000210	- Cystic fibrosis (CF) [MIM:219700]	SWISS	289	COG1116	90421313,NP_000483
1080	147744553	Disease	p.Asp651Asn	VAR_000210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000210	- Cystic fibrosis (CF) [MIM:219700]	SWISS	308	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Asp651Asn	VAR_000210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000210	- Cystic fibrosis (CF) [MIM:219700]	SWISS	230_G	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Thr665Ser	VAR_000211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000211	- Cystic fibrosis (CF) [MIM:219700]	SWISS	335	COG1118	90421313,NP_000483
1080	147744553	Disease	p.Thr665Ser	VAR_000211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000211	- Cystic fibrosis (CF) [MIM:219700]	SWISS	277	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Thr665Ser	VAR_000211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000211	- Cystic fibrosis (CF) [MIM:219700]	SWISS	561	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Thr665Ser	VAR_000211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000211	- Cystic fibrosis (CF) [MIM:219700]	SWISS	265	COG1125	90421313,NP_000483
1080	147744553	Disease	p.Thr665Ser	VAR_000211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000211	- Cystic fibrosis (CF) [MIM:219700]	SWISS	281	COG4152	90421313,NP_000483
1080	147744553	Disease	p.Thr665Ser	VAR_000211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000211	- Cystic fibrosis (CF) [MIM:219700]	SWISS	275	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Thr665Ser	VAR_000211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000211	- Cystic fibrosis (CF) [MIM:219700]	SWISS	429	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Thr665Ser	VAR_000211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000211	- Cystic fibrosis (CF) [MIM:219700]	SWISS	489	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Thr665Ser	VAR_000211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000211	- Cystic fibrosis (CF) [MIM:219700]	SWISS	344	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Thr665Ser	VAR_000211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000211	- Cystic fibrosis (CF) [MIM:219700]	SWISS	322	COG4586	90421313,NP_000483
1080	147744553	Disease	p.Thr665Ser	VAR_000211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000211	- Cystic fibrosis (CF) [MIM:219700]	SWISS	260	COG4525	90421313,NP_000483
1080	147744553	Disease	p.Thr665Ser	VAR_000211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000211	- Cystic fibrosis (CF) [MIM:219700]	SWISS	333	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Thr665Ser	VAR_000211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000211	- Cystic fibrosis (CF) [MIM:219700]	SWISS	243	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Val754Met	VAR_000214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000214	- Cystic fibrosis (CF) [MIM:219700]	SWISS	718	COG3839	90421313,NP_000483
1080	147744553	Disease	p.Val754Met	VAR_000214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000214	- Cystic fibrosis (CF) [MIM:219700]	SWISS	64	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Val754Met	VAR_000214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000214	- Cystic fibrosis (CF) [MIM:219700]	SWISS	576	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Val754Met	VAR_000214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000214	- Cystic fibrosis (CF) [MIM:219700]	SWISS	628	COG3842	90421313,NP_000483
1080	147744553	Disease	p.Val754Met	VAR_000214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000214	- Cystic fibrosis (CF) [MIM:219700]	SWISS	576	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Val754Met	VAR_000214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000214	- Cystic fibrosis (CF) [MIM:219700]	SWISS	338	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Arg766Met	VAR_000215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000215	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	77	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Arg766Met	VAR_000215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000215	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	604	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Arg766Met	VAR_000215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000215	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	590	COG1129	90421313,NP_000483
1080	147744553	Disease	p.Arg766Met	VAR_000215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000215	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	349	COG4148	90421313,NP_000483
1080	147744553	Disease	p.Arg792Gly	VAR_000216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000216	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	115	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Arg792Gly	VAR_000216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000216	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	667	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ala800Gly	VAR_000217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000217	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	124	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Ala800Gly	VAR_000217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000217	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	676	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ile807Met	VAR_000218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000218	rs1800103 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	132	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Glu822Lys	VAR_000219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000219	- Cystic fibrosis (CF) [MIM:219700]	SWISS	147	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Cys866Tyr	VAR_000221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000221	- Cystic fibrosis (CF) [MIM:219700]	SWISS	7	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Cys866Tyr	VAR_000221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000221	- Cystic fibrosis (CF) [MIM:219700]	SWISS	201	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Cys866Tyr	VAR_000221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000221	- Cystic fibrosis (CF) [MIM:219700]	SWISS	14	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Cys866Tyr	VAR_000221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000221	- Cystic fibrosis (CF) [MIM:219700]	SWISS	44	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Cys866Tyr	VAR_000221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000221	- Cystic fibrosis (CF) [MIM:219700]	SWISS	5	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Cys866Tyr	VAR_000221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000221	- Cystic fibrosis (CF) [MIM:219700]	SWISS	25	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Tyr913Cys	VAR_000223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000223	- Cystic fibrosis (CF) [MIM:219700]	SWISS	38	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Tyr913Cys	VAR_000223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000223	- Cystic fibrosis (CF) [MIM:219700]	SWISS	231	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Tyr913Cys	VAR_000223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000223	- Cystic fibrosis (CF) [MIM:219700]	SWISS	59	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Tyr913Cys	VAR_000223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000223	- Cystic fibrosis (CF) [MIM:219700]	SWISS	272	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Tyr913Cys	VAR_000223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000223	- Cystic fibrosis (CF) [MIM:219700]	SWISS	101	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Tyr913Cys	VAR_000223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000223	- Cystic fibrosis (CF) [MIM:219700]	SWISS	66	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Tyr917Cys	VAR_000224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000224	- Cystic fibrosis (CF) [MIM:219700]	SWISS	42	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Tyr917Cys	VAR_000224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000224	- Cystic fibrosis (CF) [MIM:219700]	SWISS	235	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Tyr917Cys	VAR_000224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000224	- Cystic fibrosis (CF) [MIM:219700]	SWISS	63	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Tyr917Cys	VAR_000224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000224	- Cystic fibrosis (CF) [MIM:219700]	SWISS	276	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Tyr917Cys	VAR_000224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000224	- Cystic fibrosis (CF) [MIM:219700]	SWISS	105	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Tyr917Cys	VAR_000224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000224	- Cystic fibrosis (CF) [MIM:219700]	SWISS	70	COG4987	90421313,NP_000483
1080	147744553	Disease	p.His949Tyr	VAR_000225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000225	- Cystic fibrosis (CF) [MIM:219700]	SWISS	74	COG4988	90421313,NP_000483
1080	147744553	Disease	p.His949Tyr	VAR_000225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000225	- Cystic fibrosis (CF) [MIM:219700]	SWISS	14	COG5265	90421313,NP_000483
1080	147744553	Disease	p.His949Tyr	VAR_000225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000225	- Cystic fibrosis (CF) [MIM:219700]	SWISS	268	COG2274	90421313,NP_000483
1080	147744553	Disease	p.His949Tyr	VAR_000225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000225	- Cystic fibrosis (CF) [MIM:219700]	SWISS	85	COG4615	90421313,NP_000483
1080	147744553	Disease	p.His949Tyr	VAR_000225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000225	- Cystic fibrosis (CF) [MIM:219700]	SWISS	316	COG1132	90421313,NP_000483
1080	147744553	Disease	p.His949Tyr	VAR_000225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000225	- Cystic fibrosis (CF) [MIM:219700]	SWISS	140	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.His949Tyr	VAR_000225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000225	- Cystic fibrosis (CF) [MIM:219700]	SWISS	105	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Met952Ile	VAR_000226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000226	- Cystic fibrosis (CF) [MIM:219700]	SWISS	80	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Met952Ile	VAR_000226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000226	- Cystic fibrosis (CF) [MIM:219700]	SWISS	17	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Met952Ile	VAR_000226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000226	- Cystic fibrosis (CF) [MIM:219700]	SWISS	271	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Met952Ile	VAR_000226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000226	- Cystic fibrosis (CF) [MIM:219700]	SWISS	88	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Met952Ile	VAR_000226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000226	- Cystic fibrosis (CF) [MIM:219700]	SWISS	319	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Met952Ile	VAR_000226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000226	- Cystic fibrosis (CF) [MIM:219700]	SWISS	144	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Met952Ile	VAR_000226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000226	- Cystic fibrosis (CF) [MIM:219700]	SWISS	108	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Leu997Phe	VAR_000227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000227	rs1800111 Cystic fibrosis (CF) [MIM:219700]	SWISS	128	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Leu997Phe	VAR_000227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000227	rs1800111 Cystic fibrosis (CF) [MIM:219700]	SWISS	44	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Leu997Phe	VAR_000227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000227	rs1800111 Cystic fibrosis (CF) [MIM:219700]	SWISS	66	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Leu997Phe	VAR_000227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000227	rs1800111 Cystic fibrosis (CF) [MIM:219700]	SWISS	316	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Leu997Phe	VAR_000227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000227	rs1800111 Cystic fibrosis (CF) [MIM:219700]	SWISS	133	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Leu997Phe	VAR_000227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000227	rs1800111 Cystic fibrosis (CF) [MIM:219700]	SWISS	448	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Leu997Phe	VAR_000227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000227	rs1800111 Cystic fibrosis (CF) [MIM:219700]	SWISS	198	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Leu997Phe	VAR_000227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000227	rs1800111 Cystic fibrosis (CF) [MIM:219700]	SWISS	153	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Ile1005Arg	VAR_000228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000228	- Cystic fibrosis (CF) [MIM:219700]	SWISS	136	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Ile1005Arg	VAR_000228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000228	- Cystic fibrosis (CF) [MIM:219700]	SWISS	52	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Ile1005Arg	VAR_000228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000228	- Cystic fibrosis (CF) [MIM:219700]	SWISS	74	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Ile1005Arg	VAR_000228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000228	- Cystic fibrosis (CF) [MIM:219700]	SWISS	323	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Ile1005Arg	VAR_000228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000228	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Ile1005Arg	VAR_000228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000228	- Cystic fibrosis (CF) [MIM:219700]	SWISS	467	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ile1005Arg	VAR_000228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000228	- Cystic fibrosis (CF) [MIM:219700]	SWISS	206	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Ile1005Arg	VAR_000228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000228	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Ala1006Glu	VAR_000229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000229	- Cystic fibrosis (CF) [MIM:219700]	SWISS	137	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Ala1006Glu	VAR_000229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000229	- Cystic fibrosis (CF) [MIM:219700]	SWISS	53	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Ala1006Glu	VAR_000229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000229	- Cystic fibrosis (CF) [MIM:219700]	SWISS	75	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Ala1006Glu	VAR_000229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000229	- Cystic fibrosis (CF) [MIM:219700]	SWISS	324	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Ala1006Glu	VAR_000229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000229	- Cystic fibrosis (CF) [MIM:219700]	SWISS	142	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Ala1006Glu	VAR_000229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000229	- Cystic fibrosis (CF) [MIM:219700]	SWISS	468	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ala1006Glu	VAR_000229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000229	- Cystic fibrosis (CF) [MIM:219700]	SWISS	207	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Ala1006Glu	VAR_000229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000229	- Cystic fibrosis (CF) [MIM:219700]	SWISS	162	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Pro1013Leu	VAR_000230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000230	- Cystic fibrosis (CF) [MIM:219700]	SWISS	144	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Pro1013Leu	VAR_000230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000230	- Cystic fibrosis (CF) [MIM:219700]	SWISS	70	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Pro1013Leu	VAR_000230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000230	- Cystic fibrosis (CF) [MIM:219700]	SWISS	82	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Pro1013Leu	VAR_000230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000230	- Cystic fibrosis (CF) [MIM:219700]	SWISS	331	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Pro1013Leu	VAR_000230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000230	- Cystic fibrosis (CF) [MIM:219700]	SWISS	149	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Pro1013Leu	VAR_000230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000230	- Cystic fibrosis (CF) [MIM:219700]	SWISS	475	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Pro1013Leu	VAR_000230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000230	- Cystic fibrosis (CF) [MIM:219700]	SWISS	219	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Pro1013Leu	VAR_000230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000230	- Cystic fibrosis (CF) [MIM:219700]	SWISS	169	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Met1028Ile	VAR_000231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000231	- Cystic fibrosis (CF) [MIM:219700]	SWISS	159	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Met1028Ile	VAR_000231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000231	- Cystic fibrosis (CF) [MIM:219700]	SWISS	98	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Met1028Ile	VAR_000231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000231	- Cystic fibrosis (CF) [MIM:219700]	SWISS	102	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Met1028Ile	VAR_000231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000231	- Cystic fibrosis (CF) [MIM:219700]	SWISS	346	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Met1028Ile	VAR_000231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000231	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Met1028Ile	VAR_000231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000231	- Cystic fibrosis (CF) [MIM:219700]	SWISS	572	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Met1028Ile	VAR_000231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000231	- Cystic fibrosis (CF) [MIM:219700]	SWISS	234	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Met1028Ile	VAR_000231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000231	- Cystic fibrosis (CF) [MIM:219700]	SWISS	184	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Phe1052Val	VAR_000232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000232	- Cystic fibrosis (CF) [MIM:219700]	SWISS	180	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Phe1052Val	VAR_000232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000232	- Cystic fibrosis (CF) [MIM:219700]	SWISS	124	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Phe1052Val	VAR_000232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000232	- Cystic fibrosis (CF) [MIM:219700]	SWISS	122_G	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Phe1052Val	VAR_000232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000232	- Cystic fibrosis (CF) [MIM:219700]	SWISS	370	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Phe1052Val	VAR_000232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000232	- Cystic fibrosis (CF) [MIM:219700]	SWISS	191	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Phe1052Val	VAR_000232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000232	- Cystic fibrosis (CF) [MIM:219700]	SWISS	638	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Phe1052Val	VAR_000232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000232	- Cystic fibrosis (CF) [MIM:219700]	SWISS	269	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Phe1052Val	VAR_000232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000232	- Cystic fibrosis (CF) [MIM:219700]	SWISS	209	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Gly1061Arg	VAR_000233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000233	- Cystic fibrosis (CF) [MIM:219700]	SWISS	189	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Gly1061Arg	VAR_000233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000233	- Cystic fibrosis (CF) [MIM:219700]	SWISS	139	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Gly1061Arg	VAR_000233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000233	- Cystic fibrosis (CF) [MIM:219700]	SWISS	131	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Gly1061Arg	VAR_000233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000233	- Cystic fibrosis (CF) [MIM:219700]	SWISS	379	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Gly1061Arg	VAR_000233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000233	- Cystic fibrosis (CF) [MIM:219700]	SWISS	200	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Gly1061Arg	VAR_000233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000233	- Cystic fibrosis (CF) [MIM:219700]	SWISS	647	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly1061Arg	VAR_000233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000233	- Cystic fibrosis (CF) [MIM:219700]	SWISS	282	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Gly1061Arg	VAR_000233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000233	- Cystic fibrosis (CF) [MIM:219700]	SWISS	218	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Pro	VAR_000234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000234	- Cystic fibrosis (CF) [MIM:219700]	SWISS	193	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Pro	VAR_000234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000234	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Pro	VAR_000234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000234	- Cystic fibrosis (CF) [MIM:219700]	SWISS	135	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Pro	VAR_000234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000234	- Cystic fibrosis (CF) [MIM:219700]	SWISS	383	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Pro	VAR_000234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000234	- Cystic fibrosis (CF) [MIM:219700]	SWISS	203	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Pro	VAR_000234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000234	- Cystic fibrosis (CF) [MIM:219700]	SWISS	651	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Pro	VAR_000234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000234	- Cystic fibrosis (CF) [MIM:219700]	SWISS	286	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Pro	VAR_000234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000234	- Cystic fibrosis (CF) [MIM:219700]	SWISS	222	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Arg	VAR_000235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000235	- Cystic fibrosis (CF) [MIM:219700]	SWISS	193	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Arg	VAR_000235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000235	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Arg	VAR_000235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000235	- Cystic fibrosis (CF) [MIM:219700]	SWISS	135	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Arg	VAR_000235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000235	- Cystic fibrosis (CF) [MIM:219700]	SWISS	383	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Arg	VAR_000235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000235	- Cystic fibrosis (CF) [MIM:219700]	SWISS	203	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Arg	VAR_000235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000235	- Cystic fibrosis (CF) [MIM:219700]	SWISS	651	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Arg	VAR_000235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000235	- Cystic fibrosis (CF) [MIM:219700]	SWISS	286	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Leu1065Arg	VAR_000235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000235	- Cystic fibrosis (CF) [MIM:219700]	SWISS	222	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Cys	VAR_000236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000236	- Cystic fibrosis (CF) [MIM:219700]	SWISS	194	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Cys	VAR_000236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000236	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Cys	VAR_000236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000236	- Cystic fibrosis (CF) [MIM:219700]	SWISS	136	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Cys	VAR_000236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000236	- Cystic fibrosis (CF) [MIM:219700]	SWISS	384	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Cys	VAR_000236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000236	- Cystic fibrosis (CF) [MIM:219700]	SWISS	204	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Cys	VAR_000236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000236	- Cystic fibrosis (CF) [MIM:219700]	SWISS	652	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Cys	VAR_000236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000236	- Cystic fibrosis (CF) [MIM:219700]	SWISS	287	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Cys	VAR_000236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000236	- Cystic fibrosis (CF) [MIM:219700]	SWISS	223	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Arg1066His	VAR_000237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000237	- Cystic fibrosis (CF) [MIM:219700]	SWISS	194	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Arg1066His	VAR_000237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000237	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Arg1066His	VAR_000237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000237	- Cystic fibrosis (CF) [MIM:219700]	SWISS	136	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Arg1066His	VAR_000237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000237	- Cystic fibrosis (CF) [MIM:219700]	SWISS	384	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Arg1066His	VAR_000237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000237	- Cystic fibrosis (CF) [MIM:219700]	SWISS	204	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Arg1066His	VAR_000237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000237	- Cystic fibrosis (CF) [MIM:219700]	SWISS	652	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg1066His	VAR_000237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000237	- Cystic fibrosis (CF) [MIM:219700]	SWISS	287	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg1066His	VAR_000237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000237	- Cystic fibrosis (CF) [MIM:219700]	SWISS	223	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Leu	VAR_000238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000238	- Cystic fibrosis (CF) [MIM:219700]	SWISS	194	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Leu	VAR_000238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000238	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Leu	VAR_000238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000238	- Cystic fibrosis (CF) [MIM:219700]	SWISS	136	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Leu	VAR_000238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000238	- Cystic fibrosis (CF) [MIM:219700]	SWISS	384	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Leu	VAR_000238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000238	- Cystic fibrosis (CF) [MIM:219700]	SWISS	204	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Leu	VAR_000238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000238	- Cystic fibrosis (CF) [MIM:219700]	SWISS	652	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Leu	VAR_000238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000238	- Cystic fibrosis (CF) [MIM:219700]	SWISS	287	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg1066Leu	VAR_000238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000238	- Cystic fibrosis (CF) [MIM:219700]	SWISS	223	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Ala1067Thr	VAR_000239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000239	- Cystic fibrosis (CF) [MIM:219700]	SWISS	195	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Ala1067Thr	VAR_000239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000239	- Cystic fibrosis (CF) [MIM:219700]	SWISS	153	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Ala1067Thr	VAR_000239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000239	- Cystic fibrosis (CF) [MIM:219700]	SWISS	137	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Ala1067Thr	VAR_000239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000239	- Cystic fibrosis (CF) [MIM:219700]	SWISS	385	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Ala1067Thr	VAR_000239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000239	- Cystic fibrosis (CF) [MIM:219700]	SWISS	205	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Ala1067Thr	VAR_000239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000239	- Cystic fibrosis (CF) [MIM:219700]	SWISS	653	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ala1067Thr	VAR_000239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000239	- Cystic fibrosis (CF) [MIM:219700]	SWISS	288	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Ala1067Thr	VAR_000239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000239	- Cystic fibrosis (CF) [MIM:219700]	SWISS	224	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Pro	VAR_000242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000242	- Cystic fibrosis (CF) [MIM:219700]	SWISS	198	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Pro	VAR_000242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000242	- Cystic fibrosis (CF) [MIM:219700]	SWISS	156	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Pro	VAR_000242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000242	- Cystic fibrosis (CF) [MIM:219700]	SWISS	140	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Pro	VAR_000242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000242	- Cystic fibrosis (CF) [MIM:219700]	SWISS	388	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Pro	VAR_000242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000242	- Cystic fibrosis (CF) [MIM:219700]	SWISS	208	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Pro	VAR_000242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000242	- Cystic fibrosis (CF) [MIM:219700]	SWISS	656	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Pro	VAR_000242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000242	- Cystic fibrosis (CF) [MIM:219700]	SWISS	291	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Pro	VAR_000242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000242	- Cystic fibrosis (CF) [MIM:219700]	SWISS	227	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Gln	VAR_000241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000241	- Cystic fibrosis (CF) [MIM:219700]	SWISS	198	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Gln	VAR_000241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000241	- Cystic fibrosis (CF) [MIM:219700]	SWISS	156	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Gln	VAR_000241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000241	- Cystic fibrosis (CF) [MIM:219700]	SWISS	140	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Gln	VAR_000241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000241	- Cystic fibrosis (CF) [MIM:219700]	SWISS	388	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Gln	VAR_000241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000241	- Cystic fibrosis (CF) [MIM:219700]	SWISS	208	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Gln	VAR_000241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000241	- Cystic fibrosis (CF) [MIM:219700]	SWISS	656	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Gln	VAR_000241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000241	- Cystic fibrosis (CF) [MIM:219700]	SWISS	291	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Gln	VAR_000241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000241	- Cystic fibrosis (CF) [MIM:219700]	SWISS	227	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Trp	VAR_011564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011564	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	198	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Trp	VAR_011564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011564	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	156	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Trp	VAR_011564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011564	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	140	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Trp	VAR_011564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011564	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	388	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Trp	VAR_011564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011564	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	208	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Trp	VAR_011564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011564	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	656	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Trp	VAR_011564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011564	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	291	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Arg1070Trp	VAR_011564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011564	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	227	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Gln1071Pro	VAR_000243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000243	- Cystic fibrosis (CF) [MIM:219700]	SWISS	200	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Gln1071Pro	VAR_000243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000243	- Cystic fibrosis (CF) [MIM:219700]	SWISS	157	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Gln1071Pro	VAR_000243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000243	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Gln1071Pro	VAR_000243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000243	- Cystic fibrosis (CF) [MIM:219700]	SWISS	389	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Gln1071Pro	VAR_000243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000243	- Cystic fibrosis (CF) [MIM:219700]	SWISS	209	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Gln1071Pro	VAR_000243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000243	- Cystic fibrosis (CF) [MIM:219700]	SWISS	657	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gln1071Pro	VAR_000243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000243	- Cystic fibrosis (CF) [MIM:219700]	SWISS	292	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Gln1071Pro	VAR_000243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000243	- Cystic fibrosis (CF) [MIM:219700]	SWISS	227_G	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Pro1072Leu	VAR_000244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000244	- Cystic fibrosis (CF) [MIM:219700]	SWISS	201	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Pro1072Leu	VAR_000244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000244	- Cystic fibrosis (CF) [MIM:219700]	SWISS	158	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Pro1072Leu	VAR_000244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000244	- Cystic fibrosis (CF) [MIM:219700]	SWISS	142	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Pro1072Leu	VAR_000244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000244	- Cystic fibrosis (CF) [MIM:219700]	SWISS	390	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Pro1072Leu	VAR_000244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000244	- Cystic fibrosis (CF) [MIM:219700]	SWISS	210	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Pro1072Leu	VAR_000244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000244	- Cystic fibrosis (CF) [MIM:219700]	SWISS	658	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Pro1072Leu	VAR_000244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000244	- Cystic fibrosis (CF) [MIM:219700]	SWISS	293	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Pro1072Leu	VAR_000244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000244	- Cystic fibrosis (CF) [MIM:219700]	SWISS	227_G	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Leu1077Pro	VAR_000245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000245	- Cystic fibrosis (CF) [MIM:219700]	SWISS	206	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Leu1077Pro	VAR_000245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000245	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Leu1077Pro	VAR_000245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000245	- Cystic fibrosis (CF) [MIM:219700]	SWISS	147	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Leu1077Pro	VAR_000245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000245	- Cystic fibrosis (CF) [MIM:219700]	SWISS	395	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Leu1077Pro	VAR_000245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000245	- Cystic fibrosis (CF) [MIM:219700]	SWISS	215	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Leu1077Pro	VAR_000245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000245	- Cystic fibrosis (CF) [MIM:219700]	SWISS	678	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Leu1077Pro	VAR_000245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000245	- Cystic fibrosis (CF) [MIM:219700]	SWISS	298	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Leu1077Pro	VAR_000245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000245	- Cystic fibrosis (CF) [MIM:219700]	SWISS	230	COG4987	90421313,NP_000483
1080	147744553	Disease	p.His1085Arg	VAR_000246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000246	- Cystic fibrosis (CF) [MIM:219700]	SWISS	214	COG4988	90421313,NP_000483
1080	147744553	Disease	p.His1085Arg	VAR_000246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000246	- Cystic fibrosis (CF) [MIM:219700]	SWISS	165_G	COG4618	90421313,NP_000483
1080	147744553	Disease	p.His1085Arg	VAR_000246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000246	- Cystic fibrosis (CF) [MIM:219700]	SWISS	155	COG5265	90421313,NP_000483
1080	147744553	Disease	p.His1085Arg	VAR_000246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000246	- Cystic fibrosis (CF) [MIM:219700]	SWISS	23	COG1123	90421313,NP_000483
1080	147744553	Disease	p.His1085Arg	VAR_000246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000246	- Cystic fibrosis (CF) [MIM:219700]	SWISS	402	COG2274	90421313,NP_000483
1080	147744553	Disease	p.His1085Arg	VAR_000246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000246	- Cystic fibrosis (CF) [MIM:219700]	SWISS	227	COG4615	90421313,NP_000483
1080	147744553	Disease	p.His1085Arg	VAR_000246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000246	- Cystic fibrosis (CF) [MIM:219700]	SWISS	686	COG1132	90421313,NP_000483
1080	147744553	Disease	p.His1085Arg	VAR_000246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000246	- Cystic fibrosis (CF) [MIM:219700]	SWISS	308	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.His1085Arg	VAR_000246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000246	- Cystic fibrosis (CF) [MIM:219700]	SWISS	238	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Trp1098Arg	VAR_000247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000247	- Cystic fibrosis (CF) [MIM:219700]	SWISS	233	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Trp1098Arg	VAR_000247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000247	- Cystic fibrosis (CF) [MIM:219700]	SWISS	178	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Trp1098Arg	VAR_000247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000247	- Cystic fibrosis (CF) [MIM:219700]	SWISS	168	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Trp1098Arg	VAR_000247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000247	- Cystic fibrosis (CF) [MIM:219700]	SWISS	70	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Trp1098Arg	VAR_000247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000247	- Cystic fibrosis (CF) [MIM:219700]	SWISS	416	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Trp1098Arg	VAR_000247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000247	- Cystic fibrosis (CF) [MIM:219700]	SWISS	241	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Trp1098Arg	VAR_000247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000247	- Cystic fibrosis (CF) [MIM:219700]	SWISS	739	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Trp1098Arg	VAR_000247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000247	- Cystic fibrosis (CF) [MIM:219700]	SWISS	321	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Trp1098Arg	VAR_000247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000247	- Cystic fibrosis (CF) [MIM:219700]	SWISS	251	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Met1101Lys	VAR_000248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000248	rs36210737 Cystic fibrosis (CF) [MIM:219700]	SWISS	236	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Met1101Lys	VAR_000248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000248	rs36210737 Cystic fibrosis (CF) [MIM:219700]	SWISS	181	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Met1101Lys	VAR_000248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000248	rs36210737 Cystic fibrosis (CF) [MIM:219700]	SWISS	171	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Met1101Lys	VAR_000248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000248	rs36210737 Cystic fibrosis (CF) [MIM:219700]	SWISS	73	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Met1101Lys	VAR_000248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000248	rs36210737 Cystic fibrosis (CF) [MIM:219700]	SWISS	419	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Met1101Lys	VAR_000248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000248	rs36210737 Cystic fibrosis (CF) [MIM:219700]	SWISS	244	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Met1101Lys	VAR_000248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000248	rs36210737 Cystic fibrosis (CF) [MIM:219700]	SWISS	761	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Met1101Lys	VAR_000248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000248	rs36210737 Cystic fibrosis (CF) [MIM:219700]	SWISS	324	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Met1101Lys	VAR_000248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000248	rs36210737 Cystic fibrosis (CF) [MIM:219700]	SWISS	254	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Met1101Arg	VAR_011565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011565	- Cystic fibrosis (CF) [MIM:219700]	SWISS	236	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Met1101Arg	VAR_011565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011565	- Cystic fibrosis (CF) [MIM:219700]	SWISS	181	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Met1101Arg	VAR_011565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011565	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Met1101Arg	VAR_011565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011565	- Cystic fibrosis (CF) [MIM:219700]	SWISS	73	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Met1101Arg	VAR_011565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011565	- Cystic fibrosis (CF) [MIM:219700]	SWISS	419	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Met1101Arg	VAR_011565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011565	- Cystic fibrosis (CF) [MIM:219700]	SWISS	244	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Met1101Arg	VAR_011565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011565	- Cystic fibrosis (CF) [MIM:219700]	SWISS	761	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Met1101Arg	VAR_011565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011565	- Cystic fibrosis (CF) [MIM:219700]	SWISS	324	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Met1101Arg	VAR_011565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011565	- Cystic fibrosis (CF) [MIM:219700]	SWISS	254	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Met1137Val	VAR_000249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000249	- Cystic fibrosis (CF) [MIM:219700]	SWISS	282	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Met1137Val	VAR_000249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000249	- Cystic fibrosis (CF) [MIM:219700]	SWISS	220	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Met1137Val	VAR_000249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000249	- Cystic fibrosis (CF) [MIM:219700]	SWISS	206	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Met1137Val	VAR_000249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000249	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Met1137Val	VAR_000249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000249	- Cystic fibrosis (CF) [MIM:219700]	SWISS	464	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Met1137Val	VAR_000249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000249	- Cystic fibrosis (CF) [MIM:219700]	SWISS	278	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Met1137Val	VAR_000249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000249	- Cystic fibrosis (CF) [MIM:219700]	SWISS	843	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Met1137Val	VAR_000249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000249	- Cystic fibrosis (CF) [MIM:219700]	SWISS	369	pfam00664	90421313,NP_000483
1080	147744553	Disease	p.Met1137Val	VAR_000249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000249	- Cystic fibrosis (CF) [MIM:219700]	SWISS	294	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Met1137Val	VAR_000249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000249	- Cystic fibrosis (CF) [MIM:219700]	SWISS	22	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Asp1152His	VAR_000251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000251	- Cystic fibrosis (CF) [MIM:219700]	SWISS	292_G	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Asp1152His	VAR_000251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000251	- Cystic fibrosis (CF) [MIM:219700]	SWISS	262	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Asp1152His	VAR_000251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000251	- Cystic fibrosis (CF) [MIM:219700]	SWISS	221	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Asp1152His	VAR_000251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000251	- Cystic fibrosis (CF) [MIM:219700]	SWISS	192	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Asp1152His	VAR_000251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000251	- Cystic fibrosis (CF) [MIM:219700]	SWISS	479	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Asp1152His	VAR_000251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000251	- Cystic fibrosis (CF) [MIM:219700]	SWISS	293	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Asp1152His	VAR_000251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000251	- Cystic fibrosis (CF) [MIM:219700]	SWISS	874	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Asp1152His	VAR_000251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000251	- Cystic fibrosis (CF) [MIM:219700]	SWISS	315	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Asp1152His	VAR_000251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000251	- Cystic fibrosis (CF) [MIM:219700]	SWISS	37	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	358	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	31	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	394	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	34	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	44	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	289	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	60	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	499	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	565	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	29	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	29	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	28	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	27	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	28	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	26	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	26	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	26	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	23	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	29	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	25	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	28	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	48	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	57	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	95	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	29	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	37	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	25	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	28	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	24	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	44	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	25	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	23	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	24	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	44	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	25	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	39	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	23	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	27	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	30	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	23	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	29	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	36	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	360	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	75	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1196	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	25	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	26	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	33	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	31	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	24	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	22	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	26	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	31	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	51	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	10	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	32	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	29	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	37	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	39	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	27	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	29	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	26	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	30	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	26	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	29	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	37	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	32	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	25	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	38	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	56	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	378	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Ile1234Val	VAR_000254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000254	- Cystic fibrosis (CF) [MIM:219700]	SWISS	102	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	359	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	32	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	395	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	35	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	45	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	290	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	61	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	500	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	566	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	30	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	30	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	29	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	28	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	29	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	27	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	27	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	27	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	24	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	30	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	26	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	29	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	49	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	58	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	48	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	96	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	30	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	38	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	26	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	29	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	25	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	45	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	26	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	48	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	24	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	25	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	45	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	26	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	24	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	28	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	31	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	24	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	30	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	37	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	361	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	76	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1197	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	26	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	27	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	41	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	41	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	34	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	32	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	25	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	23	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	27	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	32	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	52	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	11	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	33	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	30	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	38	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	28	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	30	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	27	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	31	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	27	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	30	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	38	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	33	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	26	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	39	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	41	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	57	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	379	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Ser1235Arg	VAR_000255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000255	- Cystic fibrosis (CF) [MIM:219700]	SWISS	103	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	368	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	41	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	9	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	404	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	44	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	54	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	299	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	70	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	509	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	575	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	39	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	38	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	37	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	38	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	36	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	36	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	36	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	57	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	35	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	35	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	38	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	58	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	67	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	57	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	105	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	39	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	35	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	38	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	35	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	54	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	35	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	57	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	33	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	34	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	54	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	35	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	49	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	33	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	37	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	33	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	39	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	370	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	85	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1213	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	35	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	36	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	50	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	50	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	43	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	41	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	34	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	32	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	36	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	41	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	62	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	31	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	42	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	39	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	49	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	37	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	39	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	36	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	41	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	36	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	39	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	42	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	35	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	49	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	50	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	90	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	388	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Gly1244Glu	VAR_000256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000256	- Cystic fibrosis (CF) [MIM:219700]	SWISS	112	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	373	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	16	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	409	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	49	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	59	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	304	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	75	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	514	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	580	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	44	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	45	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	43	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	42	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	43	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	41	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	41	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	41	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	62	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	51	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	43	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	63	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	72	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	62	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	110	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	44	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	52	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	43	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	59	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	62	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	38	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	39	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	59	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	54	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	38	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	42	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	45	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	38	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	44	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	51	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	375	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	90	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1218	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	41	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	55	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	55	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	48	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	39	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	37	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	41	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	67	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	36	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	50	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	44	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	52	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	54	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	42	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	44	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	41	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	41	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	44	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	52	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	50	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	54	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	55	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	95	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	393	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Gly1249Glu	VAR_000257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000257	- Cystic fibrosis (CF) [MIM:219700]	SWISS	117	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	375	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	48	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	18	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	411	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	51	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	61	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	306	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	77	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	516	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	582	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	45	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	44	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	45	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	43	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	43	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	43	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	64	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	42	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	53	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	42	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	45	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	65	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	74	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	64	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	112	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	54	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	42	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	45	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	42	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	61	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	42	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	64	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	41	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	61	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	42	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	56	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	44	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	40	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	53	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	377	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	92	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1222	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	42	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	43	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	57	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	57	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	50	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	48	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	41	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	39	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	43	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	48	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	69	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	38	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	52	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	54	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	56	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	44	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	43	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	48	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	43	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	54	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	52	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	42	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	56	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	57	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	97	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	395	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Ser1251Asn	VAR_000258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000258	- Cystic fibrosis (CF) [MIM:219700]	SWISS	119	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	379	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	52	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	23	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	415	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	55	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	65	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	310	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	81	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	520	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	586	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	50	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	51	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	49	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	48	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	49	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	68	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	57	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	49	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	69	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	78	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	68	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	116	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	50	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	56_G	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	49	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	65	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	68	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	44	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	45	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	65	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	60	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	44	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	48	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	51	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	50	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	57	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	5	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	381	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	96	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1226	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	45_G	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	48	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	61	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	61	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	54	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	50_G	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	45	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	43	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	50_G	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	73	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	45	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	56	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	50	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	58	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	60	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	48	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	50	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	52	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	47	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	50	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	58	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	56	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	46	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	60	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	61	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	101	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	399	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Ser1255Pro	VAR_000259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000259	- Cystic fibrosis (CF) [MIM:219700]	SWISS	123	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	396	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	68	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	76	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	431	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	77	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	81	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	326	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	97	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	537	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	602	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	66	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	67	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	65	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	67	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	65	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	92	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	63	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	63	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	84	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	62	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	76	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	62	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	65	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	87	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	112	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	89	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	136	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	70	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	74	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	62	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	65	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	67	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	82	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	62	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	85	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	60	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	61	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	81	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	62	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	83	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	61	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	70	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	67	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	60	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	66	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	73	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	27	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	397	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	113	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	1250	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	62	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	63	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	78	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	91	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	76	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	68	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	61	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	59	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	63	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	68	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	92	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	58	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	234	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	71	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	75	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	81	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	63	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	69	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	66	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	69	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	63	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	66	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	74	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	72	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	63	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	79	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	83	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	156	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	415	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Asp1270Asn	VAR_000260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000260	rs11971167 Cystic fibrosis (CF) [MIM:219700]	SWISS	139	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	408	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	80	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	88	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	438	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	95	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	94	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	338	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	98_G	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	554	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	614	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	91	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	74	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	79	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	85	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	76	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	75	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	83	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	99	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	79	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	93	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	77	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	77	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	144	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	193	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	114	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	157	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	75_G	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	82	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	87	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	77	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	79	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	95	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	74	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	101	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	69	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	75	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	93	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	77	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	118	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	72_G	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	89	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	102	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	71_G	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	76	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	85	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	51	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	409	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	128	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1262	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	74	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	78	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	101	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	245	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	225	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	89	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	73	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	69	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	75	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	92	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	105	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	68	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	413	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	88	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	87	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	94	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	75	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	87	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	77_G	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	123	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	75	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	78	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	86	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	97	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	97	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	133	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	110	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	219	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	427	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Trp1282Arg	VAR_000261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000261	- Cystic fibrosis (CF) [MIM:219700]	SWISS	151	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	409	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	81	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	89	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	440	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	96	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	98	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	339	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	99	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	555	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	615	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	92	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	75	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	80	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	86	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	77	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	76	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	84	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	100	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	80	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	98	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	78	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	78	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	145	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	194	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	115	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	158	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	75_G	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	83	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	88	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	78	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	83	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	96	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	75	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	102	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	70	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	76	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	94	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	78	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	119	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	73	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	90	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	103	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	72	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	77	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	86	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	52	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	410	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	129	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1263	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	82	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	79	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	102	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	246	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	228	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	90	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	74	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	70	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	76	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	93	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	106	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	69	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	414	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	89	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	96	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	95	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	76	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	88	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	78	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	124	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	76	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	79	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	87	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	98	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	98	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	134	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	111	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	220	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	428	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Arg1283Met	VAR_000262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000262	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	412	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	84	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	92	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	443	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	99	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	101	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	342	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	102	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	560	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	618	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	95	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	82	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	116	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	89	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	80	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	156	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	79	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	87	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	103	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	83	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	101	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	81	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	81	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	148	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	197	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	118	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	76	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	89	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	93	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	81	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	86	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	99	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	78	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	105	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	73	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	79	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	97	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	81	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	122	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	76	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	93	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	106	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	75	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	80	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	89	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	55	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	413	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	132	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1266	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	85	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	82	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	106	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	249	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	237	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	93	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	77	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	73	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	79	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	96	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	123	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	72	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	417	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	92	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	99	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	98	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	79	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	91	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	80_G	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	127	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	79	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	82	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	90	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	101	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	101	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	137	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	114	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	223	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	431	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Phe1286Ser	VAR_000263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000263	- Cystic fibrosis (CF) [MIM:219700]	SWISS	155	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	417	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	89	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	97	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	452	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	104	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	106	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	347	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	105	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	565	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	623	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	100	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	87	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	136	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	94	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	86	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	84	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	100	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	108	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	93	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	106	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	86	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	86	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	697	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	202	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	123	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	166	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	81	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	94	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	98	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	86	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	94	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	104	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	83	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	110	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	89	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	82_G	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	102	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	86	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	127	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	84	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	98	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	111	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	80	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	83_G	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	97	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	60	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	418	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	145	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1277	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	90	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	87	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	111	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	254	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	242	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	98	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	82	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	78	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	84	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	101	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	128	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	77	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	422	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	97	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	104	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	103	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	84	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	96	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	85	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	132	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	84	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	87	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	95	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	106	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	106	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	142	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	119	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	228	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	436	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Gln1291His	VAR_000264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000264	- Cystic fibrosis (CF) [MIM:219700]	SWISS	160	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	417	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	89	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	97	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	452	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	104	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	106	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	347	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	105	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	565	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	623	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	100	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	87	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	136	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	94	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	86	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	161	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	84	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	100	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	108	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	93	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	106	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	86	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	86	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	697	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	202	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	123	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	166	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	81	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	94	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	98	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	86	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	94	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	104	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	83	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	110	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	89	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	82_G	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	102	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	86	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	127	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	84	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	98	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	111	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	80	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	83_G	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	97	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	60	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	418	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	145	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1277	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	90	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	87	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	111	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	254	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	242	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	98	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	82	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	78	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	84	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	101	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	128	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	77	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	422	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	97	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	104	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	103	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	84	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	96	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	85	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	132	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	84	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	87	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	95	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	106	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	106	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	142	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	119	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	228	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	436	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Gln1291Arg	VAR_000265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000265	- Cystic fibrosis (CF) [MIM:219700]	SWISS	160	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	429	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	101	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	109	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	464	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	117	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	119	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	359	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	117	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	593	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	635	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	113	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	117	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	113	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	99	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	173	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	96	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	122_G	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	126	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	112	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	133	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	93	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	98	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	709	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	215	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	144	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	178	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	93	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	108	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	121	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	98	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	107	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	111	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	95	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	135	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	100	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	91	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	114	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	99	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	97	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	111	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	146	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	93	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	102	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	117	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	103	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	429_G	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	166	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1292	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	103	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	94	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	124	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	277	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	265	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	105	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	95	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	91	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	96	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	114	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	136	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	90	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	436	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	125	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	120	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	116	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	96	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	109	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	115	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	153	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	96	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	99	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	107	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	129_G	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	120	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	142	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	240	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	448	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Asn1303His	VAR_000266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000266	- Cystic fibrosis (CF) [MIM:219700]	SWISS	172	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	429	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	101	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	109	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	464	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	117	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	119	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	359	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	117	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	593	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	635	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	113	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	117	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	113	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	99	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	173	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	96	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	122_G	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	126	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	112	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	133	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	93	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	98	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	709	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	215	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	144	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	178	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	93	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	108	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	121	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	98	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	107	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	111	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	95	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	135	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	100	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	91	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	114	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	99	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	97	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	111	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	146	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	93	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	102	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	117	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	103	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	429_G	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	166	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1292	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	103	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	94	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	124	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	277	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	265	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	105	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	95	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	91	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	96	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	114	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	136	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	90	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	436	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	125	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	120	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	116	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	96	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	109	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	115	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	153	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	96	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	99	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	107	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	129_G	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	120	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	142	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	240	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	448	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Asn1303Lys	VAR_000267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000267	- Cystic fibrosis (CF) [MIM:219700]	SWISS	172	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	477	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	180	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	249	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	511	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	177	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	164	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	406	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	682	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	683	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	157	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	158	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	207	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	270	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	143	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	156	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	180	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	173	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	145	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	748	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	304	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	188	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	255	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	254	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	150	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	155	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	162	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	159	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	160	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	148	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	133	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	140	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	162	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	145	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	229	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	145	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	170	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	180	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	135	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	152	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	153	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	253	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	467	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	209	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1388	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	146	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	142	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	179	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	413	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	466	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	155	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	139	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	133	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	141	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	171	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	197	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	132	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	484	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	160	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	253	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	227	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	159	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	188	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	140	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	202	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	145	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	146	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	168	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	163	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	160	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	209	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	179	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1273	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	496	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Gly1349Asp	VAR_000268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000268	- Cystic fibrosis (CF) [MIM:219700]	SWISS	218	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	493	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	195	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	265	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	526	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	192	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	179	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	421	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	178	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	697	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	698	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	172	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	173	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	222	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	178	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	156	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	285	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	158	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	171	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	188	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	195	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	188	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	156	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	160	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	763	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	325	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	203	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	270	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	270	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	165	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	170	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	177	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	175	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	175	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	163	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	187	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	148	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	155	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	177	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	160	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	301	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	163	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	185	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	195	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	150	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	167	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	168	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	270	pfam00005	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	482	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	224	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	1403	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	161	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	157	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	194	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	428	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	481	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	170	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	162	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	148	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	156	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	186	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	217	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	147	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	505	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	175	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	268	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	242	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	174	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	205	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	155	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	217	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	160	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	161	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	183	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	178	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	175	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	232	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	194	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	1306	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	512	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Ala1364Val	VAR_000269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000269	- Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]	SWISS	233	cd03288	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	527	COG4988	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	228	cd03369	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	648	smart00382	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	560	COG4618	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	227	COG1117	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	223	COG1127	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	456	COG5265	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	212	cd03291	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	732	COG1123	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	732	COG2274	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	206	COG4598	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	208	COG1121	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	258	COG0411	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	214	COG0410	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	190	COG4555	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	322	cd03249	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	191	cd03252	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	210	cd03256	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	225	cd03230	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	231	cd03219	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	224	cd03255	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	190	cd03292	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	194	cd03246	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	798	COG4608	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	368	cd03228	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	238	cd03229	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	309	cd03250	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	306	cd03221	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	202	cd03266	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	205	cd03262	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	210	cd03251	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	211	cd03224	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	209	cd03264	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	196	cd03247	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	223	cd03259	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	182	cd03269	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	190	cd03268	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	217	cd03253	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	211	cd03261	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	334	cd03223	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	216	cd03218	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	241	cd03260	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	233	cd03293	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	185	cd03265	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	202	COG1101	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	203	COG4167	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	517	COG4615	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	260	COG1119	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1446	COG1132	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	195	COG4161	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	191	COG2884	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	230	COG1136	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	464	cd03257	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	517	COG0444	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	205	cd03258	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	197	COG4559	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	183	COG3840	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	193	COG4619	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	239	COG1135	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	254	COG1131	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	182	cd03298	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	540	COG1122	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	210	COG3638	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	303	COG1124	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	299	cd03213	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	207	cd03289	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	239	cd03244	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	190	COG4136	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	252	COG1120	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	193	cd03254	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	195	cd03245	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	263	cd03248	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	230	COG1126	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	209	cd03226	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	267	cd03214	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	231	cd03225	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	1350	cd00267	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	547	COG4987	90421313,NP_000483
1080	147744553	Disease	p.Val1397Glu	VAR_000270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000270	- Cystic fibrosis (CF) [MIM:219700]	SWISS	266	cd03288	90421313,NP_000483
1103	281185509	Disease	p.Leu210Pro	VAR_011666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011666	rs28930071 Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]	SWISS	91	pfam00755	NULL
1103	281185509	Disease	p.Pro211Ala	VAR_011667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011667	- Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]	SWISS	92	pfam00755	NULL
1103	281185509	Disease	p.Ile305Thr	VAR_011668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011668	rs28929482 Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]	SWISS	232	pfam00755	NULL
1103	281185509	Disease	p.Ile336Thr	VAR_038605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038605	- Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]	SWISS	266	pfam00755	NULL
1103	281185509	Disease	p.Arg420Cys	VAR_011669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011669	- Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]	SWISS	384	pfam00755	NULL
1103	281185509	Disease	p.Glu441Lys	VAR_011670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011670	rs28930070 Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]	SWISS	405	pfam00755	NULL
1103	281185509	Disease	p.Arg482Gly	VAR_011671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011671	rs28929481 Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]	SWISS	471	pfam00755	NULL
1103	281185509	Disease	p.Ser498Leu	VAR_011672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011672	- Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]	SWISS	488	pfam00755	NULL
1103	281185509	Disease	p.Val506Leu	VAR_011673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011673	- Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]	SWISS	496	pfam00755	NULL
1103	281185509	Disease	p.Arg560His	VAR_011674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011674	- Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]	SWISS	551	pfam00755	NULL
55636	148877246	Disease	p.His55Arg	VAR_054623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054623	- Kallmann syndrome type 5 (KAL5) [MIM:612370]	SWISS	No Domain	N/A	54112403,NP_060250
55636	148877246	Disease	p.Ser834Phe	VAR_054624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054624	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	88	smart00298	54112403,NP_060250
55636	148877246	Disease	p.Ser834Phe	VAR_054624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054624	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	49	pfam00385	54112403,NP_060250
55636	148877246	Disease	p.Ser834Phe	VAR_054624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054624	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	297	COG0553	54112403,NP_060250
55636	148877246	Disease	p.Ser834Phe	VAR_054624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054624	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	62	cd00024	54112403,NP_060250
55636	148877246	Disease	p.Ile1028Val	VAR_021059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021059	- CHARGE syndrome [MIM:214800]	SWISS	78	cd00046	54112403,NP_060250
55636	148877246	Disease	p.Ile1028Val	VAR_021059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021059	- CHARGE syndrome [MIM:214800]	SWISS	133	pfam00176	54112403,NP_060250
55636	148877246	Disease	p.Ile1028Val	VAR_021059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021059	- CHARGE syndrome [MIM:214800]	SWISS	650	COG0553	54112403,NP_060250
55636	148877246	Disease	p.Ile1028Val	VAR_021059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021059	- CHARGE syndrome [MIM:214800]	SWISS	469	smart00487	54112403,NP_060250
55636	148877246	Disease	p.Trp1031Gly	VAR_033245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033245	- CHARGE syndrome [MIM:214800]	SWISS	81	cd00046	54112403,NP_060250
55636	148877246	Disease	p.Trp1031Gly	VAR_033245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033245	- CHARGE syndrome [MIM:214800]	SWISS	136	pfam00176	54112403,NP_060250
55636	148877246	Disease	p.Trp1031Gly	VAR_033245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033245	- CHARGE syndrome [MIM:214800]	SWISS	653	COG0553	54112403,NP_060250
55636	148877246	Disease	p.Trp1031Gly	VAR_033245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033245	- CHARGE syndrome [MIM:214800]	SWISS	473	smart00487	54112403,NP_060250
55636	148877246	Disease	p.Gln1214Arg	VAR_033246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033246	- CHARGE syndrome [MIM:214800]	SWISS	432	pfam00176	54112403,NP_060250
55636	148877246	Disease	p.Gln1214Arg	VAR_033246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033246	- CHARGE syndrome [MIM:214800]	SWISS	997	COG0553	54112403,NP_060250
55636	148877246	Disease	p.Leu1257Arg	VAR_021060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021060	- CHARGE syndrome [MIM:214800]	SWISS	1126	COG0553	54112403,NP_060250
55636	148877246	Disease	p.Leu1294Pro	VAR_033247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033247	- CHARGE syndrome [MIM:214800]	SWISS	1237	COG0553	54112403,NP_060250
55636	148877246	Disease	p.Leu1294Pro	VAR_033247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033247	- CHARGE syndrome [MIM:214800]	SWISS	26	cd00079	54112403,NP_060250
55636	148877246	Disease	p.Leu1815Pro	VAR_033248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033248	- CHARGE syndrome [MIM:214800]	SWISS	No Domain	N/A	54112403,NP_060250
55636	148877246	Disease	p.His2096Arg	VAR_033249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033249	- CHARGE syndrome [MIM:214800]	SWISS	No Domain	N/A	54112403,NP_060250
55636	148877246	Disease	p.Arg2319Ser	VAR_033250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033250	- CHARGE syndrome [MIM:214800]	SWISS	No Domain	N/A	54112403,NP_060250
55636	148877246	Disease	p.Ala2789Thr	VAR_054625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054625	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	No Domain	N/A	54112403,NP_060250
55636	148877246	Disease	p.Pro2880Leu	VAR_054626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054626	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	No Domain	N/A	54112403,NP_060250
55636	148877246	Disease	p.Lys2948Glu	VAR_054627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054627	- Kallmann syndrome type 5 (KAL5) [MIM:612370]	SWISS	No Domain	N/A	54112403,NP_060250
1121	21431807	Disease	p.Gln471Leu	VAR_008273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008273	- Choroideremia (CHM) [MIM:303100]	SWISS	362	COG5044	9966761,NP_000381
1121	21431807	Disease	p.Gln471Leu	VAR_008273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008273	- Choroideremia (CHM) [MIM:303100]	SWISS	370	pfam00996	9966761,NP_000381
25978	73917746	Disease	p.Asp148Tyr	VAR_023383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023383	- Frontotemporal dementia, chromosome 3-linked (FTD3) [MIM:600795]	SWISS	155	pfam03357	40254866,NP_054762
128866	24636296	Disease	p.Asp129Val	VAR_037579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037579	- Cataract posterior polar type 3 (CTPP3) [MIM:605387]	SWISS	129	pfam03357	28827795,NP_789782
128866	24636296	Disease	p.Glu161Lys	VAR_037580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037580	- Cataract posterior polar type 3 (CTPP3) [MIM:605387]	SWISS	166	pfam03357	28827795,NP_789782
1123	21903393	Disease	p.Leu20Phe	VAR_047940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047940	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	No Domain	N/A	4502813,NP_001813
1123	21903393	Disease	p.Ile126Met	VAR_047941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047941	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	152	cd00173	4502813,NP_001813
1123	21903393	Disease	p.Tyr143His	VAR_047942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047942	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	No Domain	N/A	4502813,NP_001813
1123	21903393	Disease	p.Ala223Val	VAR_047943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047943	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	24	cd00029	4502813,NP_001813
1123	21903393	Disease	p.Ala223Val	VAR_047943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047943	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	28	smart00109	4502813,NP_001813
1123	21903393	Disease	p.Ala223Val	VAR_047943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047943	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	25	pfam00130	4502813,NP_001813
1123	21903393	Disease	p.Gly228Ser	VAR_047944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047944	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	29	cd00029	4502813,NP_001813
1123	21903393	Disease	p.Gly228Ser	VAR_047944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047944	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	33	smart00109	4502813,NP_001813
1123	21903393	Disease	p.Gly228Ser	VAR_047944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047944	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	40	pfam00130	4502813,NP_001813
1123	21903393	Disease	p.Pro252Gln	VAR_047945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047945	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	59	cd00029	4502813,NP_001813
1123	21903393	Disease	p.Pro252Gln	VAR_047945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047945	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	96	smart00109	4502813,NP_001813
1123	21903393	Disease	p.Pro252Gln	VAR_047945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047945	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	71	pfam00130	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	43	cd04376	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	46_G	cd04388	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	35	pfam00620	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	44	cd00159	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	66_G	cd04397	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	54	cd04379	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	49	cd04398	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	49	cd04372	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	48	cd04378	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	48	cd04409	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	54	cd04389	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	47	cd04377	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	48	cd04387	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	47	cd04406	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	48	cd04403	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	47	cd04407	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	48	cd04408	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	52	cd04375	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	52	cd04386	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	48	cd04402	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	48	cd04385	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	53	cd04393	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	52	cd04383	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	54	cd04390	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	49	cd04384	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	52	cd04381	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	66	cd04396	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	45	smart00324	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	42	cd04392	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	64	cd04374	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	55	cd04394	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	54	cd04395	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	56	cd04391	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	56	cd04400	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	54	cd04373	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	54	cd04382	4502813,NP_001813
1123	21903393	Disease	p.Glu313Lys	VAR_047946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047946	- Duane retraction syndrome type 2 (DURS2) [MIM:604356]	SWISS	56	cd04404	4502813,NP_001813
1134	113071	Disease	p.Val177Leu	VAR_038599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038599	- Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]	SWISS	169	pfam02931	87567783,NP_001034612
1134	113071	Disease	p.Gly198Ser	VAR_000282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000282	- Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]	SWISS	202	pfam02931	87567783,NP_001034612
1134	113071	Disease	p.Val201Met	VAR_000283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000283	- Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]	SWISS	218	pfam02931	87567783,NP_001034612
1134	113071	Disease	p.Arg254Leu	VAR_043904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043904	- Lethal type multiple pterygium syndrome [MIM:253290]	SWISS	316	pfam02931	87567783,NP_001034612
1134	113071	Disease	p.Asn262Lys	VAR_000284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000284	- Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]	SWISS	No Domain	N/A	87567783,NP_001034612
1134	113071	Disease	p.Phe278Val	VAR_021206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021206	- Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]	SWISS	16	pfam02932	87567783,NP_001034612
1134	113071	Disease	p.Val294Phe	VAR_021207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021207	- Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]	SWISS	33	pfam02932	87567783,NP_001034612
1134	113071	Disease	p.Thr299Ile	VAR_000285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000285	- Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]	SWISS	38	pfam02932	87567783,NP_001034612
1134	113071	Disease	p.Phe301Leu	VAR_021208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021208	- Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]	SWISS	40	pfam02932	87567783,NP_001034612
1134	113071	Disease	p.Ser314Ile	VAR_000286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000286	- Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]	SWISS	54	pfam02932	87567783,NP_001034612
1134	113071	Disease	p.Val330Ile	VAR_021209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021209	- Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]	SWISS	70	pfam02932	87567783,NP_001034612
1134	113071	Disease	p.Cys463Trp	VAR_038601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038601	- Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]	SWISS	470	pfam02932	87567783,NP_001034612
1135	308153405	Disease	p.Ile279Asn	VAR_027641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027641	- Nocturnal frontal lobe epilepsy type 4 (ENFL4) [MIM:610353]	SWISS	8	pfam02932	153792669,NP_000733
1137	1351848	Disease	p.Ser280Phe	VAR_000295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000295	- Nocturnal frontal lobe epilepsy type 1 (ENFL1) [MIM:600513]	SWISS	32	pfam02932	4502827,NP_000735
1137	1351848	Disease	p.Ser280Leu	VAR_017531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017531	- Nocturnal frontal lobe epilepsy type 1 (ENFL1) [MIM:600513]	SWISS	32	pfam02932	4502827,NP_000735
1140	21903373	Disease	p.Leu285Met	VAR_000287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000287	- Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]	SWISS	35	pfam02932	41327726,NP_000738
1140	21903373	Disease	p.Val289Met	VAR_000288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000288	- Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]	SWISS	39	pfam02932	41327726,NP_000738
1141	113105	Disease	p.Val287Leu	VAR_012714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012714	- Nocturnal frontal lobe epilepsy type 3 (ENFL3) [MIM:605375]	SWISS	48	pfam02932	4502833,NP_000739
1141	113105	Disease	p.Val287Met	VAR_012715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012715	- Nocturnal frontal lobe epilepsy type 3 (ENFL3) [MIM:605375]	SWISS	48	pfam02932	4502833,NP_000739
1144	543759	Disease	p.Glu80Lys	VAR_021210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021210	- Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]	SWISS	70	pfam02931	4557461,NP_000742
1144	543759	Disease	p.Phe95Leu	VAR_043905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043905	- Lethal type multiple pterygium syndrome [MIM:253290]	SWISS	88	pfam02931	4557461,NP_000742
1144	543759	Disease	p.Pro271Gln	VAR_021211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021211	- Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]	SWISS	19	pfam02932	4557461,NP_000742
1144	543759	Disease	p.Gln288Glu	VAR_021212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021212	rs41265127 Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]	SWISS	37	pfam02932	4557461,NP_000742
1144	543759	Disease	p.Ser289Phe	VAR_019566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019566	- Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]	SWISS	38	pfam02932	4557461,NP_000742
1145	1168301	Disease	p.Gly13Arg	VAR_021213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021213	- Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]	SWISS	No Domain	N/A	4557463,NP_000071
1145	1168301	Disease	p.Leu98Pro	VAR_019567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019567	rs28929768 Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]	SWISS	94	pfam02931	4557463,NP_000071
1145	1168301	Disease	p.Pro141Leu	VAR_000289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000289	- Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]	SWISS	157	pfam02931	4557463,NP_000071
1145	1168301	Disease	p.Ser163Leu	VAR_021214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021214	- Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]	SWISS	180	pfam02931	4557463,NP_000071
1145	1168301	Disease	p.Arg167Leu	VAR_000290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000290	- Congenital myasthenic syndrome with acetylcholine receptor deficiency (ACHRDCMS) [MIM:608931]	SWISS	184	pfam02931	4557463,NP_000071
1145	1168301	Disease	p.Leu241Phe	VAR_019568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019568	rs28999110 Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]	SWISS	No Domain	N/A	4557463,NP_000071
1145	1168301	Disease	p.Pro265Leu	VAR_000291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000291	- Congenital myasthenic syndrome with acetylcholine receptor deficiency (ACHRDCMS) [MIM:608931]	SWISS	19	pfam02932	4557463,NP_000071
1145	1168301	Disease	p.Thr284Pro	VAR_000292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000292	- Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]	SWISS	38	pfam02932	4557463,NP_000071
1145	1168301	Disease	p.Leu289Phe	VAR_000293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000293	- Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]	SWISS	43	pfam02932	4557463,NP_000071
1145	1168301	Disease	p.Arg331Trp	VAR_000294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000294	- Congenital myasthenic syndrome with acetylcholine receptor deficiency (ACHRDCMS) [MIM:608931]	SWISS	86	pfam02932	4557463,NP_000071
1145	1168301	Disease	p.Ala431Pro	VAR_021215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021215	- Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]	SWISS	351	pfam02932	4557463,NP_000071
1146	126302510	Disease	p.Val107Gly	VAR_030753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030753	- Escobar syndrome [MIM:265000]	SWISS	107	pfam02931	61743914,NP_005190
1146	126302510	Disease	p.Arg239Cys	VAR_030755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030755	- Escobar syndrome [MIM:265000]	SWISS	316	pfam02931	61743914,NP_005190
113189	61211839	Disease	p.Arg135Gly	VAR_063754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063754	- Adducted thumb-clubfoot syndrome (ATCS) [MIM:601776]	SWISS	No Domain	N/A	18497304,NP_569735
113189	61211839	Disease	p.Leu137Gln	VAR_063755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063755	- Adducted thumb-clubfoot syndrome (ATCS) [MIM:601776]	SWISS	No Domain	N/A	18497304,NP_569735
113189	61211839	Disease	p.Arg213Pro	VAR_063756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063756	- Adducted thumb-clubfoot syndrome (ATCS) [MIM:601776]	SWISS	174	pfam03567	18497304,NP_569735
113189	61211839	Disease	p.Tyr293Cys	VAR_063757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063757	- Adducted thumb-clubfoot syndrome (ATCS) [MIM:601776]	SWISS	394	pfam03567	18497304,NP_569735
9469	116241297	Disease	p.Arg222Trp	VAR_047856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047856	- Spondyloepiphyseal dysplasia Omani type (SED Omani type) [MIM:608637]	SWISS	95	pfam00685	19923281,NP_004264
9469	116241297	Disease	p.Leu259Pro	VAR_047857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047857	- Spondyloepiphyseal dysplasia Omani type (SED Omani type) [MIM:608637]	SWISS	133	pfam00685	19923281,NP_004264
9469	116241297	Disease	p.Arg304Gln	VAR_021413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021413	rs28937593 Spondyloepiphyseal dysplasia Omani type (SED Omani type) [MIM:608637]	SWISS	191	pfam00685	19923281,NP_004264
9469	116241297	Disease	p.Leu307Pro	VAR_047858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047858	- Humerospinal dysostosis (HSD) [MIM:143095]	SWISS	194	pfam00685	19923281,NP_004264
9469	116241297	Disease	p.Glu372Lys	VAR_047859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047859	- Spondyloepiphyseal dysplasia Omani type (SED Omani type) [MIM:608637]	SWISS	293	pfam00685	19923281,NP_004264
4166	61212105	Disease	p.Leu15Pro	VAR_021417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021417	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	No Domain	N/A	11055976,NP_067628
4166	61212105	Disease	p.Leu22Arg	VAR_021418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021418	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	No Domain	N/A	11055976,NP_067628
4166	61212105	Disease	p.Pro31Ser	VAR_021419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021419	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	No Domain	N/A	11055976,NP_067628
4166	61212105	Disease	p.His42Tyr	VAR_021420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021420	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	3	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Arg50Cys	VAR_021421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021421	rs28937877 Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	11	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Ser51Leu	VAR_021422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021422	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	12	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Gly52Asp	VAR_021423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021423	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	13	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Ser53Leu	VAR_021424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021424	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	14	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Leu59Pro	VAR_021425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021425	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	20	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Asn61Thr	VAR_021426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021426	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	22	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Val66Leu	VAR_021427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021427	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	27	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Tyr68His	VAR_021428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021428	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	29	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Met70Leu	VAR_021429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021429	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	31	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Pro72Ser	VAR_021430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021430	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	33	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Val76Met	VAR_021431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021431	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	37	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Arg93His	VAR_021432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021432	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	62	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Arg97Pro	VAR_021433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021433	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	66	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Ser98Trp	VAR_021434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021434	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	67	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Cys102Gly	VAR_021435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021435	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	71	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Cys102Tyr	VAR_021436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021436	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	71	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Met104Val	VAR_021437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021437	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	73	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Phe107Ser	VAR_021438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021438	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	76	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Tyr110Cys	VAR_021439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021439	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	79	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Phe121Leu	VAR_021440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021440	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	93	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Gln122Pro	VAR_021441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021441	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	94	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Arg127Cys	VAR_021442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021442	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	99	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Ala128Val	VAR_021443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021443	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	100	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Ser131Pro	VAR_021444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021444	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	103	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Leu152Pro	VAR_021445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021445	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	125	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Arg162Gly	VAR_021446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021446	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	135	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Arg166Pro	VAR_021447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021447	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	139	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Lys174Arg	VAR_021448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021448	rs28937878 Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	147	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Arg177His	VAR_021449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021449	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	150	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Val198Glu	VAR_021450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021450	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	184	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Leu200Arg	VAR_021451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021451	rs28937879 Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	186	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Arg202Ser	VAR_021452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021452	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	188	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Asp203Glu	VAR_021453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021453	rs28937878 Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	189	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Pro204Gln	VAR_021454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021454	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	190	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Arg205Leu	VAR_021455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021455	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	191	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Arg205Gln	VAR_021456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021456	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	191	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Ala206Thr	VAR_021457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021457	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	192	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Ala206Val	VAR_021458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021458	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	192	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Ser210Phe	VAR_021459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021459	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	196	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Arg211Gln	VAR_021460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021460	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	197	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Arg211Trp	VAR_021461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021461	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	197	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Ala217Thr	VAR_021462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021462	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	203	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Asp221Glu	VAR_021463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021463	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	207	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Asp221Tyr	VAR_021464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021464	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	207	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.His249Pro	VAR_021465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021465	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	272	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Tyr268Cys	VAR_021466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021466	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	287	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Glu274Lys	VAR_021467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021467	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	293	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Leu276Pro	VAR_021468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021468	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	295	pfam00685	11055976,NP_067628
4166	61212105	Disease	p.Tyr358Asp	VAR_021469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021469	- Macular corneal dystrophy (MCD) [MIM:217800]	SWISS	No Domain	N/A	11055976,NP_067628
4261	218511957	Disease	p.Leu469Pro	VAR_015551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015551	- Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]	SWISS	66	pfam05729	NULL
4261	218511957	Disease	p.Phe962Ser	VAR_015553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015553	- Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]	SWISS	205	cd00116	NULL
84916	41016916	Disease	p.Arg565Trp	VAR_017445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017445	- North American Indian childhood cirrhosis (NAIC) [MIM:604901]	SWISS	No Domain	N/A	186928847,NP_116219
23529	56404673	Disease	p.Arg197Leu	VAR_028354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028354	- Cold-induced sweating syndrome type 2 (CISS2) [MIM:610313]	SWISS	No Domain	N/A	7019351,NP_037378
1180	311033468	Disease	p.Arg105Cys	VAR_001582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001582	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	15	COG0038	NULL
1180	311033468	Disease	p.Arg105Cys	VAR_001582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001582	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	14	cd03685	NULL
1180	311033468	Disease	p.Asp136Gly	VAR_001584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001584	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	13	cd01031	NULL
1180	311033468	Disease	p.Asp136Gly	VAR_001584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001584	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	20	cd03684	NULL
1180	311033468	Disease	p.Asp136Gly	VAR_001584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001584	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	61	COG0038	NULL
1180	311033468	Disease	p.Asp136Gly	VAR_001584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001584	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	12	cd00400	NULL
1180	311033468	Disease	p.Asp136Gly	VAR_001584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001584	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	12	cd01036	NULL
1180	311033468	Disease	p.Asp136Gly	VAR_001584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001584	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	20	cd03683	NULL
1180	311033468	Disease	p.Asp136Gly	VAR_001584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001584	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	52	cd03685	NULL
1180	311033468	Disease	p.Tyr150Cys	VAR_001585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001585	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	27	cd01031	NULL
1180	311033468	Disease	p.Tyr150Cys	VAR_001585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001585	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	75	cd03684	NULL
1180	311033468	Disease	p.Tyr150Cys	VAR_001585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001585	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	15	cd01034	NULL
1180	311033468	Disease	p.Tyr150Cys	VAR_001585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001585	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	77	COG0038	NULL
1180	311033468	Disease	p.Tyr150Cys	VAR_001585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001585	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	25	cd00400	NULL
1180	311033468	Disease	p.Tyr150Cys	VAR_001585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001585	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	26	cd01036	NULL
1180	311033468	Disease	p.Tyr150Cys	VAR_001585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001585	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	34	cd03683	NULL
1180	311033468	Disease	p.Tyr150Cys	VAR_001585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001585	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	67	cd03685	NULL
1180	311033468	Disease	p.Phe161Val	VAR_001586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001586	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	41	cd01031	NULL
1180	311033468	Disease	p.Phe161Val	VAR_001586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001586	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	83	cd03684	NULL
1180	311033468	Disease	p.Phe161Val	VAR_001586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001586	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	36	cd01034	NULL
1180	311033468	Disease	p.Phe161Val	VAR_001586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001586	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	121	COG0038	NULL
1180	311033468	Disease	p.Phe161Val	VAR_001586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001586	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	74	cd00400	NULL
1180	311033468	Disease	p.Phe161Val	VAR_001586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001586	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	76	cd01036	NULL
1180	311033468	Disease	p.Phe161Val	VAR_001586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001586	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	64	cd03683	NULL
1180	311033468	Disease	p.Phe161Val	VAR_001586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001586	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	90	cd03685	NULL
1180	311033468	Disease	p.Phe161Val	VAR_001586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001586	- Thomsen disease (THD) [MIM:160800]	SWISS	41	cd01031	NULL
1180	311033468	Disease	p.Phe161Val	VAR_001586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001586	- Thomsen disease (THD) [MIM:160800]	SWISS	83	cd03684	NULL
1180	311033468	Disease	p.Phe161Val	VAR_001586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001586	- Thomsen disease (THD) [MIM:160800]	SWISS	36	cd01034	NULL
1180	311033468	Disease	p.Phe161Val	VAR_001586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001586	- Thomsen disease (THD) [MIM:160800]	SWISS	121	COG0038	NULL
1180	311033468	Disease	p.Phe161Val	VAR_001586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001586	- Thomsen disease (THD) [MIM:160800]	SWISS	74	cd00400	NULL
1180	311033468	Disease	p.Phe161Val	VAR_001586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001586	- Thomsen disease (THD) [MIM:160800]	SWISS	76	cd01036	NULL
1180	311033468	Disease	p.Phe161Val	VAR_001586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001586	- Thomsen disease (THD) [MIM:160800]	SWISS	64	cd03683	NULL
1180	311033468	Disease	p.Phe161Val	VAR_001586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001586	- Thomsen disease (THD) [MIM:160800]	SWISS	90	cd03685	NULL
1180	311033468	Disease	p.Val165Gly	VAR_001587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001587	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	45	cd01031	NULL
1180	311033468	Disease	p.Val165Gly	VAR_001587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001587	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	87	cd03684	NULL
1180	311033468	Disease	p.Val165Gly	VAR_001587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001587	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	40	cd01034	NULL
1180	311033468	Disease	p.Val165Gly	VAR_001587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001587	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	125	COG0038	NULL
1180	311033468	Disease	p.Val165Gly	VAR_001587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001587	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	78	cd00400	NULL
1180	311033468	Disease	p.Val165Gly	VAR_001587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001587	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	80	cd01036	NULL
1180	311033468	Disease	p.Val165Gly	VAR_001587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001587	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	68	cd03683	NULL
1180	311033468	Disease	p.Val165Gly	VAR_001587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001587	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	94	cd03685	NULL
1180	311033468	Disease	p.Phe167Leu	VAR_001588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001588	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	47	cd01031	NULL
1180	311033468	Disease	p.Phe167Leu	VAR_001588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001588	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	89	cd03684	NULL
1180	311033468	Disease	p.Phe167Leu	VAR_001588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001588	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	42	cd01034	NULL
1180	311033468	Disease	p.Phe167Leu	VAR_001588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001588	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	127	COG0038	NULL
1180	311033468	Disease	p.Phe167Leu	VAR_001588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001588	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	80	cd00400	NULL
1180	311033468	Disease	p.Phe167Leu	VAR_001588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001588	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	82	cd01036	NULL
1180	311033468	Disease	p.Phe167Leu	VAR_001588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001588	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	70	cd03683	NULL
1180	311033468	Disease	p.Phe167Leu	VAR_001588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001588	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	96	cd03685	NULL
1180	311033468	Disease	p.Gly200Arg	VAR_001589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001589	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	51	pfam00654	NULL
1180	311033468	Disease	p.Gly200Arg	VAR_001589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001589	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	83	cd01031	NULL
1180	311033468	Disease	p.Gly200Arg	VAR_001589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001589	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	195	cd03684	NULL
1180	311033468	Disease	p.Gly200Arg	VAR_001589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001589	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	77	cd01034	NULL
1180	311033468	Disease	p.Gly200Arg	VAR_001589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001589	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	164	COG0038	NULL
1180	311033468	Disease	p.Gly200Arg	VAR_001589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001589	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	123	cd00400	NULL
1180	311033468	Disease	p.Gly200Arg	VAR_001589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001589	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	115	cd01036	NULL
1180	311033468	Disease	p.Gly200Arg	VAR_001589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001589	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	103	cd03683	NULL
1180	311033468	Disease	p.Gly200Arg	VAR_001589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001589	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	129	cd03685	NULL
1180	311033468	Disease	p.Gly200Arg	VAR_001589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001589	- Thomsen disease (THD) [MIM:160800]	SWISS	51	pfam00654	NULL
1180	311033468	Disease	p.Gly200Arg	VAR_001589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001589	- Thomsen disease (THD) [MIM:160800]	SWISS	83	cd01031	NULL
1180	311033468	Disease	p.Gly200Arg	VAR_001589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001589	- Thomsen disease (THD) [MIM:160800]	SWISS	195	cd03684	NULL
1180	311033468	Disease	p.Gly200Arg	VAR_001589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001589	- Thomsen disease (THD) [MIM:160800]	SWISS	77	cd01034	NULL
1180	311033468	Disease	p.Gly200Arg	VAR_001589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001589	- Thomsen disease (THD) [MIM:160800]	SWISS	164	COG0038	NULL
1180	311033468	Disease	p.Gly200Arg	VAR_001589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001589	- Thomsen disease (THD) [MIM:160800]	SWISS	123	cd00400	NULL
1180	311033468	Disease	p.Gly200Arg	VAR_001589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001589	- Thomsen disease (THD) [MIM:160800]	SWISS	115	cd01036	NULL
1180	311033468	Disease	p.Gly200Arg	VAR_001589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001589	- Thomsen disease (THD) [MIM:160800]	SWISS	103	cd03683	NULL
1180	311033468	Disease	p.Gly200Arg	VAR_001589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001589	- Thomsen disease (THD) [MIM:160800]	SWISS	129	cd03685	NULL
1180	311033468	Disease	p.Gly230Glu	VAR_001590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001590	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	92	pfam00654	NULL
1180	311033468	Disease	p.Gly230Glu	VAR_001590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001590	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	112	cd01031	NULL
1180	311033468	Disease	p.Gly230Glu	VAR_001590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001590	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	228	cd03684	NULL
1180	311033468	Disease	p.Gly230Glu	VAR_001590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001590	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	111	cd01034	NULL
1180	311033468	Disease	p.Gly230Glu	VAR_001590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001590	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	198	COG0038	NULL
1180	311033468	Disease	p.Gly230Glu	VAR_001590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001590	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	158	cd00400	NULL
1180	311033468	Disease	p.Gly230Glu	VAR_001590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001590	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	147	cd01036	NULL
1180	311033468	Disease	p.Gly230Glu	VAR_001590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001590	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	135	cd03683	NULL
1180	311033468	Disease	p.Gly230Glu	VAR_001590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001590	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	159	cd03685	NULL
1180	311033468	Disease	p.Gly230Glu	VAR_001590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001590	- Thomsen disease (THD) [MIM:160800]	SWISS	92	pfam00654	NULL
1180	311033468	Disease	p.Gly230Glu	VAR_001590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001590	- Thomsen disease (THD) [MIM:160800]	SWISS	112	cd01031	NULL
1180	311033468	Disease	p.Gly230Glu	VAR_001590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001590	- Thomsen disease (THD) [MIM:160800]	SWISS	228	cd03684	NULL
1180	311033468	Disease	p.Gly230Glu	VAR_001590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001590	- Thomsen disease (THD) [MIM:160800]	SWISS	111	cd01034	NULL
1180	311033468	Disease	p.Gly230Glu	VAR_001590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001590	- Thomsen disease (THD) [MIM:160800]	SWISS	198	COG0038	NULL
1180	311033468	Disease	p.Gly230Glu	VAR_001590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001590	- Thomsen disease (THD) [MIM:160800]	SWISS	158	cd00400	NULL
1180	311033468	Disease	p.Gly230Glu	VAR_001590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001590	- Thomsen disease (THD) [MIM:160800]	SWISS	147	cd01036	NULL
1180	311033468	Disease	p.Gly230Glu	VAR_001590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001590	- Thomsen disease (THD) [MIM:160800]	SWISS	135	cd03683	NULL
1180	311033468	Disease	p.Gly230Glu	VAR_001590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001590	- Thomsen disease (THD) [MIM:160800]	SWISS	159	cd03685	NULL
1180	311033468	Disease	p.Val236Leu	VAR_001591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001591	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	98	pfam00654	NULL
1180	311033468	Disease	p.Val236Leu	VAR_001591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001591	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	118	cd01031	NULL
1180	311033468	Disease	p.Val236Leu	VAR_001591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001591	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	234	cd03684	NULL
1180	311033468	Disease	p.Val236Leu	VAR_001591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001591	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	117	cd01034	NULL
1180	311033468	Disease	p.Val236Leu	VAR_001591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001591	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	204	COG0038	NULL
1180	311033468	Disease	p.Val236Leu	VAR_001591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001591	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	164	cd00400	NULL
1180	311033468	Disease	p.Val236Leu	VAR_001591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001591	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	153	cd01036	NULL
1180	311033468	Disease	p.Val236Leu	VAR_001591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001591	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	141	cd03683	NULL
1180	311033468	Disease	p.Val236Leu	VAR_001591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001591	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	165	cd03685	NULL
1180	311033468	Disease	p.Tyr261Cys	VAR_001592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001592	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	150	pfam00654	NULL
1180	311033468	Disease	p.Tyr261Cys	VAR_001592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001592	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	144	cd01031	NULL
1180	311033468	Disease	p.Tyr261Cys	VAR_001592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001592	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	258	cd03684	NULL
1180	311033468	Disease	p.Tyr261Cys	VAR_001592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001592	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	141	cd01034	NULL
1180	311033468	Disease	p.Tyr261Cys	VAR_001592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001592	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	228	COG0038	NULL
1180	311033468	Disease	p.Tyr261Cys	VAR_001592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001592	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	196	cd00400	NULL
1180	311033468	Disease	p.Tyr261Cys	VAR_001592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001592	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	186	cd01036	NULL
1180	311033468	Disease	p.Tyr261Cys	VAR_001592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001592	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	168	cd03683	NULL
1180	311033468	Disease	p.Tyr261Cys	VAR_001592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001592	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	192	cd03685	NULL
1180	311033468	Disease	p.Gly285Glu	VAR_001593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001593	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	188	pfam00654	NULL
1180	311033468	Disease	p.Gly285Glu	VAR_001593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001593	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	164	cd01031	NULL
1180	311033468	Disease	p.Gly285Glu	VAR_001593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001593	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	282	cd03684	NULL
1180	311033468	Disease	p.Gly285Glu	VAR_001593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001593	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	165	cd01034	NULL
1180	311033468	Disease	p.Gly285Glu	VAR_001593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001593	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	252	COG0038	NULL
1180	311033468	Disease	p.Gly285Glu	VAR_001593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001593	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	230	cd00400	NULL
1180	311033468	Disease	p.Gly285Glu	VAR_001593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001593	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	210	cd01036	NULL
1180	311033468	Disease	p.Gly285Glu	VAR_001593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001593	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	192	cd03683	NULL
1180	311033468	Disease	p.Gly285Glu	VAR_001593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001593	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	221	cd03685	NULL
1180	311033468	Disease	p.Val286Ala	VAR_001594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001594	- Thomsen disease (THD) [MIM:160800]	SWISS	189	pfam00654	NULL
1180	311033468	Disease	p.Val286Ala	VAR_001594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001594	- Thomsen disease (THD) [MIM:160800]	SWISS	165	cd01031	NULL
1180	311033468	Disease	p.Val286Ala	VAR_001594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001594	- Thomsen disease (THD) [MIM:160800]	SWISS	283	cd03684	NULL
1180	311033468	Disease	p.Val286Ala	VAR_001594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001594	- Thomsen disease (THD) [MIM:160800]	SWISS	166	cd01034	NULL
1180	311033468	Disease	p.Val286Ala	VAR_001594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001594	- Thomsen disease (THD) [MIM:160800]	SWISS	253	COG0038	NULL
1180	311033468	Disease	p.Val286Ala	VAR_001594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001594	- Thomsen disease (THD) [MIM:160800]	SWISS	231	cd00400	NULL
1180	311033468	Disease	p.Val286Ala	VAR_001594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001594	- Thomsen disease (THD) [MIM:160800]	SWISS	211	cd01036	NULL
1180	311033468	Disease	p.Val286Ala	VAR_001594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001594	- Thomsen disease (THD) [MIM:160800]	SWISS	193	cd03683	NULL
1180	311033468	Disease	p.Val286Ala	VAR_001594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001594	- Thomsen disease (THD) [MIM:160800]	SWISS	222	cd03685	NULL
1180	311033468	Disease	p.Ile290Met	VAR_001595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001595	- Thomsen disease (THD) [MIM:160800]	SWISS	193	pfam00654	NULL
1180	311033468	Disease	p.Ile290Met	VAR_001595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001595	- Thomsen disease (THD) [MIM:160800]	SWISS	169	cd01031	NULL
1180	311033468	Disease	p.Ile290Met	VAR_001595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001595	- Thomsen disease (THD) [MIM:160800]	SWISS	287	cd03684	NULL
1180	311033468	Disease	p.Ile290Met	VAR_001595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001595	- Thomsen disease (THD) [MIM:160800]	SWISS	170	cd01034	NULL
1180	311033468	Disease	p.Ile290Met	VAR_001595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001595	- Thomsen disease (THD) [MIM:160800]	SWISS	257	COG0038	NULL
1180	311033468	Disease	p.Ile290Met	VAR_001595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001595	- Thomsen disease (THD) [MIM:160800]	SWISS	235	cd00400	NULL
1180	311033468	Disease	p.Ile290Met	VAR_001595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001595	- Thomsen disease (THD) [MIM:160800]	SWISS	215	cd01036	NULL
1180	311033468	Disease	p.Ile290Met	VAR_001595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001595	- Thomsen disease (THD) [MIM:160800]	SWISS	197	cd03683	NULL
1180	311033468	Disease	p.Ile290Met	VAR_001595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001595	- Thomsen disease (THD) [MIM:160800]	SWISS	226	cd03685	NULL
1180	311033468	Disease	p.Glu291Lys	VAR_001596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001596	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	194	pfam00654	NULL
1180	311033468	Disease	p.Glu291Lys	VAR_001596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001596	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	170	cd01031	NULL
1180	311033468	Disease	p.Glu291Lys	VAR_001596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001596	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	288	cd03684	NULL
1180	311033468	Disease	p.Glu291Lys	VAR_001596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001596	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	171	cd01034	NULL
1180	311033468	Disease	p.Glu291Lys	VAR_001596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001596	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	258	COG0038	NULL
1180	311033468	Disease	p.Glu291Lys	VAR_001596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001596	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	236	cd00400	NULL
1180	311033468	Disease	p.Glu291Lys	VAR_001596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001596	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	216	cd01036	NULL
1180	311033468	Disease	p.Glu291Lys	VAR_001596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001596	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	198	cd03683	NULL
1180	311033468	Disease	p.Glu291Lys	VAR_001596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001596	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	227	cd03685	NULL
1180	311033468	Disease	p.Phe307Ser	VAR_001598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001598	- Thomsen disease (THD) [MIM:160800]	SWISS	238	pfam00654	NULL
1180	311033468	Disease	p.Phe307Ser	VAR_001598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001598	- Thomsen disease (THD) [MIM:160800]	SWISS	199	cd01031	NULL
1180	311033468	Disease	p.Phe307Ser	VAR_001598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001598	- Thomsen disease (THD) [MIM:160800]	SWISS	317	cd03684	NULL
1180	311033468	Disease	p.Phe307Ser	VAR_001598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001598	- Thomsen disease (THD) [MIM:160800]	SWISS	187	cd01034	NULL
1180	311033468	Disease	p.Phe307Ser	VAR_001598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001598	- Thomsen disease (THD) [MIM:160800]	SWISS	287	COG0038	NULL
1180	311033468	Disease	p.Phe307Ser	VAR_001598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001598	- Thomsen disease (THD) [MIM:160800]	SWISS	264	cd00400	NULL
1180	311033468	Disease	p.Phe307Ser	VAR_001598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001598	- Thomsen disease (THD) [MIM:160800]	SWISS	232	cd01036	NULL
1180	311033468	Disease	p.Phe307Ser	VAR_001598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001598	- Thomsen disease (THD) [MIM:160800]	SWISS	214	cd03683	NULL
1180	311033468	Disease	p.Phe307Ser	VAR_001598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001598	- Thomsen disease (THD) [MIM:160800]	SWISS	243	cd03685	NULL
1180	311033468	Disease	p.Ala313Thr	VAR_001599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001599	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	244	pfam00654	NULL
1180	311033468	Disease	p.Ala313Thr	VAR_001599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001599	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	205	cd01031	NULL
1180	311033468	Disease	p.Ala313Thr	VAR_001599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001599	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	323	cd03684	NULL
1180	311033468	Disease	p.Ala313Thr	VAR_001599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001599	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	193	cd01034	NULL
1180	311033468	Disease	p.Ala313Thr	VAR_001599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001599	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	293	COG0038	NULL
1180	311033468	Disease	p.Ala313Thr	VAR_001599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001599	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	270	cd00400	NULL
1180	311033468	Disease	p.Ala313Thr	VAR_001599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001599	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	238	cd01036	NULL
1180	311033468	Disease	p.Ala313Thr	VAR_001599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001599	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	220	cd03683	NULL
1180	311033468	Disease	p.Ala313Thr	VAR_001599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001599	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	249	cd03685	NULL
1180	311033468	Disease	p.Ala313Thr	VAR_001599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001599	- Thomsen disease (THD) [MIM:160800]	SWISS	244	pfam00654	NULL
1180	311033468	Disease	p.Ala313Thr	VAR_001599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001599	- Thomsen disease (THD) [MIM:160800]	SWISS	205	cd01031	NULL
1180	311033468	Disease	p.Ala313Thr	VAR_001599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001599	- Thomsen disease (THD) [MIM:160800]	SWISS	323	cd03684	NULL
1180	311033468	Disease	p.Ala313Thr	VAR_001599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001599	- Thomsen disease (THD) [MIM:160800]	SWISS	193	cd01034	NULL
1180	311033468	Disease	p.Ala313Thr	VAR_001599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001599	- Thomsen disease (THD) [MIM:160800]	SWISS	293	COG0038	NULL
1180	311033468	Disease	p.Ala313Thr	VAR_001599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001599	- Thomsen disease (THD) [MIM:160800]	SWISS	270	cd00400	NULL
1180	311033468	Disease	p.Ala313Thr	VAR_001599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001599	- Thomsen disease (THD) [MIM:160800]	SWISS	238	cd01036	NULL
1180	311033468	Disease	p.Ala313Thr	VAR_001599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001599	- Thomsen disease (THD) [MIM:160800]	SWISS	220	cd03683	NULL
1180	311033468	Disease	p.Ala313Thr	VAR_001599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001599	- Thomsen disease (THD) [MIM:160800]	SWISS	249	cd03685	NULL
1180	311033468	Disease	p.Arg317Gln	VAR_001600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001600	- Thomsen disease (THD) [MIM:160800]	SWISS	248	pfam00654	NULL
1180	311033468	Disease	p.Arg317Gln	VAR_001600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001600	- Thomsen disease (THD) [MIM:160800]	SWISS	209	cd01031	NULL
1180	311033468	Disease	p.Arg317Gln	VAR_001600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001600	- Thomsen disease (THD) [MIM:160800]	SWISS	327	cd03684	NULL
1180	311033468	Disease	p.Arg317Gln	VAR_001600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001600	- Thomsen disease (THD) [MIM:160800]	SWISS	195_G	cd01034	NULL
1180	311033468	Disease	p.Arg317Gln	VAR_001600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001600	- Thomsen disease (THD) [MIM:160800]	SWISS	297	COG0038	NULL
1180	311033468	Disease	p.Arg317Gln	VAR_001600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001600	- Thomsen disease (THD) [MIM:160800]	SWISS	274	cd00400	NULL
1180	311033468	Disease	p.Arg317Gln	VAR_001600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001600	- Thomsen disease (THD) [MIM:160800]	SWISS	242	cd01036	NULL
1180	311033468	Disease	p.Arg317Gln	VAR_001600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001600	- Thomsen disease (THD) [MIM:160800]	SWISS	224	cd03683	NULL
1180	311033468	Disease	p.Arg317Gln	VAR_001600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001600	- Thomsen disease (THD) [MIM:160800]	SWISS	253	cd03685	NULL
1180	311033468	Disease	p.Val327Ile	VAR_001601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001601	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	281	pfam00654	NULL
1180	311033468	Disease	p.Val327Ile	VAR_001601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001601	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	210_G	cd01031	NULL
1180	311033468	Disease	p.Val327Ile	VAR_001601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001601	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	336	cd03684	NULL
1180	311033468	Disease	p.Val327Ile	VAR_001601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001601	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	202_G	cd01034	NULL
1180	311033468	Disease	p.Val327Ile	VAR_001601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001601	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	305	COG0038	NULL
1180	311033468	Disease	p.Val327Ile	VAR_001601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001601	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	284	cd00400	NULL
1180	311033468	Disease	p.Val327Ile	VAR_001601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001601	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	252	cd01036	NULL
1180	311033468	Disease	p.Val327Ile	VAR_001601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001601	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	234	cd03683	NULL
1180	311033468	Disease	p.Val327Ile	VAR_001601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001601	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	263	cd03685	NULL
1180	311033468	Disease	p.Ile329Thr	VAR_001602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001602	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	285	pfam00654	NULL
1180	311033468	Disease	p.Ile329Thr	VAR_001602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001602	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	210_G	cd01031	NULL
1180	311033468	Disease	p.Ile329Thr	VAR_001602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001602	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	338	cd03684	NULL
1180	311033468	Disease	p.Ile329Thr	VAR_001602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001602	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	203	cd01034	NULL
1180	311033468	Disease	p.Ile329Thr	VAR_001602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001602	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	308	COG0038	NULL
1180	311033468	Disease	p.Ile329Thr	VAR_001602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001602	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	286	cd00400	NULL
1180	311033468	Disease	p.Ile329Thr	VAR_001602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001602	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	254	cd01036	NULL
1180	311033468	Disease	p.Ile329Thr	VAR_001602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001602	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	236	cd03683	NULL
1180	311033468	Disease	p.Ile329Thr	VAR_001602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001602	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	265	cd03685	NULL
1180	311033468	Disease	p.Arg338Gln	VAR_001603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001603	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	296	pfam00654	NULL
1180	311033468	Disease	p.Arg338Gln	VAR_001603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001603	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	217	cd01031	NULL
1180	311033468	Disease	p.Arg338Gln	VAR_001603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001603	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	345	cd03684	NULL
1180	311033468	Disease	p.Arg338Gln	VAR_001603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001603	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	212	cd01034	NULL
1180	311033468	Disease	p.Arg338Gln	VAR_001603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001603	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	317	COG0038	NULL
1180	311033468	Disease	p.Arg338Gln	VAR_001603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001603	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	300	cd00400	NULL
1180	311033468	Disease	p.Arg338Gln	VAR_001603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001603	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	279	cd01036	NULL
1180	311033468	Disease	p.Arg338Gln	VAR_001603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001603	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	247	cd03683	NULL
1180	311033468	Disease	p.Arg338Gln	VAR_001603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001603	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	285	cd03685	NULL
1180	311033468	Disease	p.Arg338Gln	VAR_001603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001603	- Thomsen disease (THD) [MIM:160800]	SWISS	296	pfam00654	NULL
1180	311033468	Disease	p.Arg338Gln	VAR_001603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001603	- Thomsen disease (THD) [MIM:160800]	SWISS	217	cd01031	NULL
1180	311033468	Disease	p.Arg338Gln	VAR_001603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001603	- Thomsen disease (THD) [MIM:160800]	SWISS	345	cd03684	NULL
1180	311033468	Disease	p.Arg338Gln	VAR_001603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001603	- Thomsen disease (THD) [MIM:160800]	SWISS	212	cd01034	NULL
1180	311033468	Disease	p.Arg338Gln	VAR_001603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001603	- Thomsen disease (THD) [MIM:160800]	SWISS	317	COG0038	NULL
1180	311033468	Disease	p.Arg338Gln	VAR_001603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001603	- Thomsen disease (THD) [MIM:160800]	SWISS	300	cd00400	NULL
1180	311033468	Disease	p.Arg338Gln	VAR_001603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001603	- Thomsen disease (THD) [MIM:160800]	SWISS	279	cd01036	NULL
1180	311033468	Disease	p.Arg338Gln	VAR_001603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001603	- Thomsen disease (THD) [MIM:160800]	SWISS	247	cd03683	NULL
1180	311033468	Disease	p.Arg338Gln	VAR_001603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001603	- Thomsen disease (THD) [MIM:160800]	SWISS	285	cd03685	NULL
1180	311033468	Disease	p.Phe413Cys	VAR_001604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001604	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	440	pfam00654	NULL
1180	311033468	Disease	p.Phe413Cys	VAR_001604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001604	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	297	cd01031	NULL
1180	311033468	Disease	p.Phe413Cys	VAR_001604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001604	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	438	cd03684	NULL
1180	311033468	Disease	p.Phe413Cys	VAR_001604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001604	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	285	cd01034	NULL
1180	311033468	Disease	p.Phe413Cys	VAR_001604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001604	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	403	COG0038	NULL
1180	311033468	Disease	p.Phe413Cys	VAR_001604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001604	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	376	cd00400	NULL
1180	311033468	Disease	p.Phe413Cys	VAR_001604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001604	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	354	cd01036	NULL
1180	311033468	Disease	p.Phe413Cys	VAR_001604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001604	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	322	cd03683	NULL
1180	311033468	Disease	p.Phe413Cys	VAR_001604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001604	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	367	cd03685	NULL
1180	311033468	Disease	p.Ala415Val	VAR_001605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001605	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	442	pfam00654	NULL
1180	311033468	Disease	p.Ala415Val	VAR_001605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001605	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	299	cd01031	NULL
1180	311033468	Disease	p.Ala415Val	VAR_001605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001605	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	440	cd03684	NULL
1180	311033468	Disease	p.Ala415Val	VAR_001605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001605	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	287	cd01034	NULL
1180	311033468	Disease	p.Ala415Val	VAR_001605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001605	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	405	COG0038	NULL
1180	311033468	Disease	p.Ala415Val	VAR_001605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001605	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	378	cd00400	NULL
1180	311033468	Disease	p.Ala415Val	VAR_001605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001605	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	356	cd01036	NULL
1180	311033468	Disease	p.Ala415Val	VAR_001605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001605	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	324	cd03683	NULL
1180	311033468	Disease	p.Ala415Val	VAR_001605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001605	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	369	cd03685	NULL
1180	311033468	Disease	p.Pro480Leu	VAR_001607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001607	- Thomsen disease (THD) [MIM:160800]	SWISS	676	pfam00654	NULL
1180	311033468	Disease	p.Pro480Leu	VAR_001607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001607	- Thomsen disease (THD) [MIM:160800]	SWISS	364	cd01031	NULL
1180	311033468	Disease	p.Pro480Leu	VAR_001607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001607	- Thomsen disease (THD) [MIM:160800]	SWISS	503	cd03684	NULL
1180	311033468	Disease	p.Pro480Leu	VAR_001607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001607	- Thomsen disease (THD) [MIM:160800]	SWISS	331	cd01034	NULL
1180	311033468	Disease	p.Pro480Leu	VAR_001607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001607	- Thomsen disease (THD) [MIM:160800]	SWISS	465	COG0038	NULL
1180	311033468	Disease	p.Pro480Leu	VAR_001607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001607	- Thomsen disease (THD) [MIM:160800]	SWISS	482	cd00400	NULL
1180	311033468	Disease	p.Pro480Leu	VAR_001607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001607	- Thomsen disease (THD) [MIM:160800]	SWISS	517	cd01036	NULL
1180	311033468	Disease	p.Pro480Leu	VAR_001607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001607	- Thomsen disease (THD) [MIM:160800]	SWISS	403	cd03683	NULL
1180	311033468	Disease	p.Pro480Leu	VAR_001607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001607	- Thomsen disease (THD) [MIM:160800]	SWISS	506	cd03685	NULL
1180	311033468	Disease	p.Gly482Arg	VAR_001608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001608	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	678	pfam00654	NULL
1180	311033468	Disease	p.Gly482Arg	VAR_001608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001608	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	366	cd01031	NULL
1180	311033468	Disease	p.Gly482Arg	VAR_001608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001608	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	505	cd03684	NULL
1180	311033468	Disease	p.Gly482Arg	VAR_001608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001608	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	333	cd01034	NULL
1180	311033468	Disease	p.Gly482Arg	VAR_001608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001608	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	467	COG0038	NULL
1180	311033468	Disease	p.Gly482Arg	VAR_001608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001608	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	484	cd00400	NULL
1180	311033468	Disease	p.Gly482Arg	VAR_001608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001608	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	519	cd01036	NULL
1180	311033468	Disease	p.Gly482Arg	VAR_001608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001608	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	405	cd03683	NULL
1180	311033468	Disease	p.Gly482Arg	VAR_001608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001608	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	508	cd03685	NULL
1180	311033468	Disease	p.Met485Val	VAR_001609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001609	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	681	pfam00654	NULL
1180	311033468	Disease	p.Met485Val	VAR_001609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001609	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	369	cd01031	NULL
1180	311033468	Disease	p.Met485Val	VAR_001609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001609	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	508	cd03684	NULL
1180	311033468	Disease	p.Met485Val	VAR_001609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001609	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	336	cd01034	NULL
1180	311033468	Disease	p.Met485Val	VAR_001609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001609	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	470	COG0038	NULL
1180	311033468	Disease	p.Met485Val	VAR_001609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001609	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	487	cd00400	NULL
1180	311033468	Disease	p.Met485Val	VAR_001609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001609	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	522	cd01036	NULL
1180	311033468	Disease	p.Met485Val	VAR_001609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001609	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	408	cd03683	NULL
1180	311033468	Disease	p.Met485Val	VAR_001609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001609	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	511	cd03685	NULL
1180	311033468	Disease	p.Arg496Ser	VAR_001610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001610	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	692	pfam00654	NULL
1180	311033468	Disease	p.Arg496Ser	VAR_001610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001610	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	380	cd01031	NULL
1180	311033468	Disease	p.Arg496Ser	VAR_001610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001610	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	519	cd03684	NULL
1180	311033468	Disease	p.Arg496Ser	VAR_001610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001610	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	347	cd01034	NULL
1180	311033468	Disease	p.Arg496Ser	VAR_001610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001610	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	481	COG0038	NULL
1180	311033468	Disease	p.Arg496Ser	VAR_001610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001610	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	498	cd00400	NULL
1180	311033468	Disease	p.Arg496Ser	VAR_001610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001610	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	533	cd01036	NULL
1180	311033468	Disease	p.Arg496Ser	VAR_001610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001610	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	419	cd03683	NULL
1180	311033468	Disease	p.Arg496Ser	VAR_001610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001610	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	522	cd03685	NULL
1180	311033468	Disease	p.Gln552Arg	VAR_001611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001611	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	783	pfam00654	NULL
1180	311033468	Disease	p.Gln552Arg	VAR_001611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001611	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	434	cd01031	NULL
1180	311033468	Disease	p.Gln552Arg	VAR_001611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001611	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	600	cd03684	NULL
1180	311033468	Disease	p.Gln552Arg	VAR_001611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001611	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	397	cd01034	NULL
1180	311033468	Disease	p.Gln552Arg	VAR_001611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001611	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	544	COG0038	NULL
1180	311033468	Disease	p.Gln552Arg	VAR_001611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001611	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	571	cd00400	NULL
1180	311033468	Disease	p.Gln552Arg	VAR_001611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001611	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	597	cd01036	NULL
1180	311033468	Disease	p.Gln552Arg	VAR_001611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001611	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	475	cd03683	NULL
1180	311033468	Disease	p.Gln552Arg	VAR_001611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001611	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	572	cd03685	NULL
1180	311033468	Disease	p.Gln552Arg	VAR_001611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001611	- Thomsen disease (THD) [MIM:160800]	SWISS	783	pfam00654	NULL
1180	311033468	Disease	p.Gln552Arg	VAR_001611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001611	- Thomsen disease (THD) [MIM:160800]	SWISS	434	cd01031	NULL
1180	311033468	Disease	p.Gln552Arg	VAR_001611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001611	- Thomsen disease (THD) [MIM:160800]	SWISS	600	cd03684	NULL
1180	311033468	Disease	p.Gln552Arg	VAR_001611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001611	- Thomsen disease (THD) [MIM:160800]	SWISS	397	cd01034	NULL
1180	311033468	Disease	p.Gln552Arg	VAR_001611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001611	- Thomsen disease (THD) [MIM:160800]	SWISS	544	COG0038	NULL
1180	311033468	Disease	p.Gln552Arg	VAR_001611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001611	- Thomsen disease (THD) [MIM:160800]	SWISS	571	cd00400	NULL
1180	311033468	Disease	p.Gln552Arg	VAR_001611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001611	- Thomsen disease (THD) [MIM:160800]	SWISS	597	cd01036	NULL
1180	311033468	Disease	p.Gln552Arg	VAR_001611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001611	- Thomsen disease (THD) [MIM:160800]	SWISS	475	cd03683	NULL
1180	311033468	Disease	p.Gln552Arg	VAR_001611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001611	- Thomsen disease (THD) [MIM:160800]	SWISS	572	cd03685	NULL
1180	311033468	Disease	p.Ile556Asn	VAR_001612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001612	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	787	pfam00654	NULL
1180	311033468	Disease	p.Ile556Asn	VAR_001612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001612	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	438	cd01031	NULL
1180	311033468	Disease	p.Ile556Asn	VAR_001612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001612	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	604	cd03684	NULL
1180	311033468	Disease	p.Ile556Asn	VAR_001612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001612	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	401	cd01034	NULL
1180	311033468	Disease	p.Ile556Asn	VAR_001612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001612	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	548	COG0038	NULL
1180	311033468	Disease	p.Ile556Asn	VAR_001612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001612	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	575	cd00400	NULL
1180	311033468	Disease	p.Ile556Asn	VAR_001612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001612	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	601	cd01036	NULL
1180	311033468	Disease	p.Ile556Asn	VAR_001612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001612	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	479	cd03683	NULL
1180	311033468	Disease	p.Ile556Asn	VAR_001612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001612	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	577	cd03685	NULL
1180	311033468	Disease	p.Ile556Asn	VAR_001612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001612	- Thomsen disease (THD) [MIM:160800]	SWISS	787	pfam00654	NULL
1180	311033468	Disease	p.Ile556Asn	VAR_001612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001612	- Thomsen disease (THD) [MIM:160800]	SWISS	438	cd01031	NULL
1180	311033468	Disease	p.Ile556Asn	VAR_001612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001612	- Thomsen disease (THD) [MIM:160800]	SWISS	604	cd03684	NULL
1180	311033468	Disease	p.Ile556Asn	VAR_001612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001612	- Thomsen disease (THD) [MIM:160800]	SWISS	401	cd01034	NULL
1180	311033468	Disease	p.Ile556Asn	VAR_001612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001612	- Thomsen disease (THD) [MIM:160800]	SWISS	548	COG0038	NULL
1180	311033468	Disease	p.Ile556Asn	VAR_001612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001612	- Thomsen disease (THD) [MIM:160800]	SWISS	575	cd00400	NULL
1180	311033468	Disease	p.Ile556Asn	VAR_001612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001612	- Thomsen disease (THD) [MIM:160800]	SWISS	601	cd01036	NULL
1180	311033468	Disease	p.Ile556Asn	VAR_001612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001612	- Thomsen disease (THD) [MIM:160800]	SWISS	479	cd03683	NULL
1180	311033468	Disease	p.Ile556Asn	VAR_001612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001612	- Thomsen disease (THD) [MIM:160800]	SWISS	577	cd03685	NULL
1180	311033468	Disease	p.Val563Ile	VAR_001613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001613	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	794	pfam00654	NULL
1180	311033468	Disease	p.Val563Ile	VAR_001613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001613	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	445	cd01031	NULL
1180	311033468	Disease	p.Val563Ile	VAR_001613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001613	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	611	cd03684	NULL
1180	311033468	Disease	p.Val563Ile	VAR_001613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001613	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	408	cd01034	NULL
1180	311033468	Disease	p.Val563Ile	VAR_001613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001613	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	555	COG0038	NULL
1180	311033468	Disease	p.Val563Ile	VAR_001613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001613	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	582	cd00400	NULL
1180	311033468	Disease	p.Val563Ile	VAR_001613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001613	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	608	cd01036	NULL
1180	311033468	Disease	p.Val563Ile	VAR_001613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001613	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	486	cd03683	NULL
1180	311033468	Disease	p.Val563Ile	VAR_001613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001613	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	584	cd03685	NULL
1180	311033468	Disease	p.Phe708Leu	VAR_001614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001614	- Autosomal recessive myotonia congenita (MCR) [MIM:255700]	SWISS	No Domain	N/A	NULL
1181	288558807	Disease	p.Ser719Leu	VAR_058426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058426	- Childhood absence epilepsy type 3 (ECA3) [MIM:607682]	SWISS	14	cd04591	156104869,NP_004357
1184	1705908	Disease	p.Gly57Val	VAR_001616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001616	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	38	COG0038	4557473,NP_000075
1184	1705908	Disease	p.Gly57Val	VAR_001616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001616	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	33	cd03685	4557473,NP_000075
1184	1705908	Disease	p.Leu200Arg	VAR_001617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001617	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	83	pfam00654	4557473,NP_000075
1184	1705908	Disease	p.Leu200Arg	VAR_001617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001617	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	108	cd01033	4557473,NP_000075
1184	1705908	Disease	p.Leu200Arg	VAR_001617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001617	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	189	COG0038	4557473,NP_000075
1184	1705908	Disease	p.Leu200Arg	VAR_001617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001617	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	103	cd01031	4557473,NP_000075
1184	1705908	Disease	p.Leu200Arg	VAR_001617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001617	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	124	cd03683	4557473,NP_000075
1184	1705908	Disease	p.Leu200Arg	VAR_001617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001617	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	102	cd01034	4557473,NP_000075
1184	1705908	Disease	p.Leu200Arg	VAR_001617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001617	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	150	cd03685	4557473,NP_000075
1184	1705908	Disease	p.Leu200Arg	VAR_001617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001617	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	136	cd01036	4557473,NP_000075
1184	1705908	Disease	p.Leu200Arg	VAR_001617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001617	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	147	cd00400	4557473,NP_000075
1184	1705908	Disease	p.Leu200Arg	VAR_001617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001617	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	219	cd03684	4557473,NP_000075
1184	1705908	Disease	p.Ser244Leu	VAR_001618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001618	- Hypophosphatemic rickets X-linked recessive (XLRH) [MIM:300554]	SWISS	157	pfam00654	4557473,NP_000075
1184	1705908	Disease	p.Ser244Leu	VAR_001618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001618	- Hypophosphatemic rickets X-linked recessive (XLRH) [MIM:300554]	SWISS	155	cd01033	4557473,NP_000075
1184	1705908	Disease	p.Ser244Leu	VAR_001618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001618	- Hypophosphatemic rickets X-linked recessive (XLRH) [MIM:300554]	SWISS	235	COG0038	4557473,NP_000075
1184	1705908	Disease	p.Ser244Leu	VAR_001618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001618	- Hypophosphatemic rickets X-linked recessive (XLRH) [MIM:300554]	SWISS	147	cd01031	4557473,NP_000075
1184	1705908	Disease	p.Ser244Leu	VAR_001618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001618	- Hypophosphatemic rickets X-linked recessive (XLRH) [MIM:300554]	SWISS	175	cd03683	4557473,NP_000075
1184	1705908	Disease	p.Ser244Leu	VAR_001618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001618	- Hypophosphatemic rickets X-linked recessive (XLRH) [MIM:300554]	SWISS	148	cd01034	4557473,NP_000075
1184	1705908	Disease	p.Ser244Leu	VAR_001618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001618	- Hypophosphatemic rickets X-linked recessive (XLRH) [MIM:300554]	SWISS	204	cd03685	4557473,NP_000075
1184	1705908	Disease	p.Ser244Leu	VAR_001618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001618	- Hypophosphatemic rickets X-linked recessive (XLRH) [MIM:300554]	SWISS	193	cd01036	4557473,NP_000075
1184	1705908	Disease	p.Ser244Leu	VAR_001618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001618	- Hypophosphatemic rickets X-linked recessive (XLRH) [MIM:300554]	SWISS	203	cd00400	4557473,NP_000075
1184	1705908	Disease	p.Ser244Leu	VAR_001618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001618	- Hypophosphatemic rickets X-linked recessive (XLRH) [MIM:300554]	SWISS	265	cd03684	4557473,NP_000075
1184	1705908	Disease	p.Arg280Pro	VAR_001619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001619	- Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]	SWISS	235	pfam00654	4557473,NP_000075
1184	1705908	Disease	p.Arg280Pro	VAR_001619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001619	- Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]	SWISS	196	cd01033	4557473,NP_000075
1184	1705908	Disease	p.Arg280Pro	VAR_001619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001619	- Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]	SWISS	284	COG0038	4557473,NP_000075
1184	1705908	Disease	p.Arg280Pro	VAR_001619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001619	- Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]	SWISS	196	cd01031	4557473,NP_000075
1184	1705908	Disease	p.Arg280Pro	VAR_001619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001619	- Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]	SWISS	211	cd03683	4557473,NP_000075
1184	1705908	Disease	p.Arg280Pro	VAR_001619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001619	- Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]	SWISS	188	cd01034	4557473,NP_000075
1184	1705908	Disease	p.Arg280Pro	VAR_001619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001619	- Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]	SWISS	240	cd03685	4557473,NP_000075
1184	1705908	Disease	p.Arg280Pro	VAR_001619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001619	- Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]	SWISS	229	cd01036	4557473,NP_000075
1184	1705908	Disease	p.Arg280Pro	VAR_001619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001619	- Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]	SWISS	261	cd00400	4557473,NP_000075
1184	1705908	Disease	p.Arg280Pro	VAR_001619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001619	- Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]	SWISS	314	cd03684	4557473,NP_000075
1184	1705908	Disease	p.Gly506Glu	VAR_001620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001620	- Nephrolithiasis type 1 (NPHL1) [MIM:310468]	SWISS	757	pfam00654	4557473,NP_000075
1184	1705908	Disease	p.Gly506Glu	VAR_001620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001620	- Nephrolithiasis type 1 (NPHL1) [MIM:310468]	SWISS	424	cd01033	4557473,NP_000075
1184	1705908	Disease	p.Gly506Glu	VAR_001620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001620	- Nephrolithiasis type 1 (NPHL1) [MIM:310468]	SWISS	519	COG0038	4557473,NP_000075
1184	1705908	Disease	p.Gly506Glu	VAR_001620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001620	- Nephrolithiasis type 1 (NPHL1) [MIM:310468]	SWISS	409	cd01031	4557473,NP_000075
1184	1705908	Disease	p.Gly506Glu	VAR_001620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001620	- Nephrolithiasis type 1 (NPHL1) [MIM:310468]	SWISS	451	cd03683	4557473,NP_000075
1184	1705908	Disease	p.Gly506Glu	VAR_001620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001620	- Nephrolithiasis type 1 (NPHL1) [MIM:310468]	SWISS	372	cd01034	4557473,NP_000075
1184	1705908	Disease	p.Gly506Glu	VAR_001620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001620	- Nephrolithiasis type 1 (NPHL1) [MIM:310468]	SWISS	547	cd03685	4557473,NP_000075
1184	1705908	Disease	p.Gly506Glu	VAR_001620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001620	- Nephrolithiasis type 1 (NPHL1) [MIM:310468]	SWISS	572	cd01036	4557473,NP_000075
1184	1705908	Disease	p.Gly506Glu	VAR_001620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001620	- Nephrolithiasis type 1 (NPHL1) [MIM:310468]	SWISS	537	cd00400	4557473,NP_000075
1184	1705908	Disease	p.Gly506Glu	VAR_001620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001620	- Nephrolithiasis type 1 (NPHL1) [MIM:310468]	SWISS	575	cd03684	4557473,NP_000075
1184	1705908	Disease	p.Gly512Arg	VAR_001621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001621	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	763	pfam00654	4557473,NP_000075
1184	1705908	Disease	p.Gly512Arg	VAR_001621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001621	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	430	cd01033	4557473,NP_000075
1184	1705908	Disease	p.Gly512Arg	VAR_001621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001621	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	525	COG0038	4557473,NP_000075
1184	1705908	Disease	p.Gly512Arg	VAR_001621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001621	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	415	cd01031	4557473,NP_000075
1184	1705908	Disease	p.Gly512Arg	VAR_001621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001621	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	457	cd03683	4557473,NP_000075
1184	1705908	Disease	p.Gly512Arg	VAR_001621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001621	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	378	cd01034	4557473,NP_000075
1184	1705908	Disease	p.Gly512Arg	VAR_001621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001621	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	553	cd03685	4557473,NP_000075
1184	1705908	Disease	p.Gly512Arg	VAR_001621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001621	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	578	cd01036	4557473,NP_000075
1184	1705908	Disease	p.Gly512Arg	VAR_001621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001621	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	543	cd00400	4557473,NP_000075
1184	1705908	Disease	p.Gly512Arg	VAR_001621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001621	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	581	cd03684	4557473,NP_000075
1184	1705908	Disease	p.Ser520Pro	VAR_001622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001622	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	771	pfam00654	4557473,NP_000075
1184	1705908	Disease	p.Ser520Pro	VAR_001622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001622	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	444	cd01033	4557473,NP_000075
1184	1705908	Disease	p.Ser520Pro	VAR_001622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001622	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	533	COG0038	4557473,NP_000075
1184	1705908	Disease	p.Ser520Pro	VAR_001622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001622	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	423	cd01031	4557473,NP_000075
1184	1705908	Disease	p.Ser520Pro	VAR_001622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001622	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	464	cd03683	4557473,NP_000075
1184	1705908	Disease	p.Ser520Pro	VAR_001622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001622	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	386	cd01034	4557473,NP_000075
1184	1705908	Disease	p.Ser520Pro	VAR_001622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001622	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	561	cd03685	4557473,NP_000075
1184	1705908	Disease	p.Ser520Pro	VAR_001622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001622	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	586	cd01036	4557473,NP_000075
1184	1705908	Disease	p.Ser520Pro	VAR_001622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001622	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	556	cd00400	4557473,NP_000075
1184	1705908	Disease	p.Ser520Pro	VAR_001622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001622	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	589	cd03684	4557473,NP_000075
1184	1705908	Disease	p.Glu527Asp	VAR_001623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001623	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	778	pfam00654	4557473,NP_000075
1184	1705908	Disease	p.Glu527Asp	VAR_001623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001623	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	451	cd01033	4557473,NP_000075
1184	1705908	Disease	p.Glu527Asp	VAR_001623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001623	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	540	COG0038	4557473,NP_000075
1184	1705908	Disease	p.Glu527Asp	VAR_001623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001623	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	430	cd01031	4557473,NP_000075
1184	1705908	Disease	p.Glu527Asp	VAR_001623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001623	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	471	cd03683	4557473,NP_000075
1184	1705908	Disease	p.Glu527Asp	VAR_001623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001623	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	393	cd01034	4557473,NP_000075
1184	1705908	Disease	p.Glu527Asp	VAR_001623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001623	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	568	cd03685	4557473,NP_000075
1184	1705908	Disease	p.Glu527Asp	VAR_001623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001623	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	593	cd01036	4557473,NP_000075
1184	1705908	Disease	p.Glu527Asp	VAR_001623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001623	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	563	cd00400	4557473,NP_000075
1184	1705908	Disease	p.Glu527Asp	VAR_001623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001623	- Nephrolithiasis type 2 (NPHL2) [MIM:300009]	SWISS	596	cd03684	4557473,NP_000075
1186	12644301	Disease	p.Gly240Arg	VAR_020998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020998	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	87	pfam00654	14149607,NP_001278
1186	12644301	Disease	p.Gly240Arg	VAR_020998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020998	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	151	cd00400	14149607,NP_001278
1186	12644301	Disease	p.Gly240Arg	VAR_020998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020998	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	223	cd03684	14149607,NP_001278
1186	12644301	Disease	p.Gly240Arg	VAR_020998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020998	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	140	cd01036	14149607,NP_001278
1186	12644301	Disease	p.Gly240Arg	VAR_020998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020998	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	154	cd03685	14149607,NP_001278
1186	12644301	Disease	p.Gly240Arg	VAR_020998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020998	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	106	cd01034	14149607,NP_001278
1186	12644301	Disease	p.Gly240Arg	VAR_020998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020998	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	193	COG0038	14149607,NP_001278
1186	12644301	Disease	p.Gly240Arg	VAR_020998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020998	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	107	cd01031	14149607,NP_001278
1186	12644301	Disease	p.Gly240Arg	VAR_020998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020998	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	128	cd03683	14149607,NP_001278
1186	12644301	Disease	p.Pro249Arg	VAR_020999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020999	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	96	pfam00654	14149607,NP_001278
1186	12644301	Disease	p.Pro249Arg	VAR_020999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020999	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	162	cd00400	14149607,NP_001278
1186	12644301	Disease	p.Pro249Arg	VAR_020999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020999	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	232	cd03684	14149607,NP_001278
1186	12644301	Disease	p.Pro249Arg	VAR_020999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020999	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	151	cd01036	14149607,NP_001278
1186	12644301	Disease	p.Pro249Arg	VAR_020999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020999	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	163	cd03685	14149607,NP_001278
1186	12644301	Disease	p.Pro249Arg	VAR_020999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020999	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	115	cd01034	14149607,NP_001278
1186	12644301	Disease	p.Pro249Arg	VAR_020999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020999	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	202	COG0038	14149607,NP_001278
1186	12644301	Disease	p.Pro249Arg	VAR_020999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020999	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	116	cd01031	14149607,NP_001278
1186	12644301	Disease	p.Pro249Arg	VAR_020999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020999	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	139	cd03683	14149607,NP_001278
1186	12644301	Disease	p.Ile261Phe	VAR_037427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037427	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	108	pfam00654	14149607,NP_001278
1186	12644301	Disease	p.Ile261Phe	VAR_037427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037427	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	174	cd00400	14149607,NP_001278
1186	12644301	Disease	p.Ile261Phe	VAR_037427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037427	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	244	cd03684	14149607,NP_001278
1186	12644301	Disease	p.Ile261Phe	VAR_037427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037427	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	163	cd01036	14149607,NP_001278
1186	12644301	Disease	p.Ile261Phe	VAR_037427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037427	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	175	cd03685	14149607,NP_001278
1186	12644301	Disease	p.Ile261Phe	VAR_037427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037427	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	123	cd01034	14149607,NP_001278
1186	12644301	Disease	p.Ile261Phe	VAR_037427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037427	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	214	COG0038	14149607,NP_001278
1186	12644301	Disease	p.Ile261Phe	VAR_037427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037427	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	128	cd01031	14149607,NP_001278
1186	12644301	Disease	p.Ile261Phe	VAR_037427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037427	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	151	cd03683	14149607,NP_001278
1186	12644301	Disease	p.Met332Val	VAR_021001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021001	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	241	pfam00654	14149607,NP_001278
1186	12644301	Disease	p.Met332Val	VAR_021001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021001	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	259	cd00400	14149607,NP_001278
1186	12644301	Disease	p.Met332Val	VAR_021001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021001	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	320	cd03684	14149607,NP_001278
1186	12644301	Disease	p.Met332Val	VAR_021001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021001	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	235	cd01036	14149607,NP_001278
1186	12644301	Disease	p.Met332Val	VAR_021001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021001	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	246	cd03685	14149607,NP_001278
1186	12644301	Disease	p.Met332Val	VAR_021001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021001	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	190	cd01034	14149607,NP_001278
1186	12644301	Disease	p.Met332Val	VAR_021001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021001	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	286	COG0038	14149607,NP_001278
1186	12644301	Disease	p.Met332Val	VAR_021001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021001	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	198	cd01031	14149607,NP_001278
1186	12644301	Disease	p.Met332Val	VAR_021001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021001	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	217	cd03683	14149607,NP_001278
1186	12644301	Disease	p.Arg526Trp	VAR_021004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021004	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	692	pfam00654	14149607,NP_001278
1186	12644301	Disease	p.Arg526Trp	VAR_021004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021004	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	498	cd00400	14149607,NP_001278
1186	12644301	Disease	p.Arg526Trp	VAR_021004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021004	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	519	cd03684	14149607,NP_001278
1186	12644301	Disease	p.Arg526Trp	VAR_021004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021004	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	533	cd01036	14149607,NP_001278
1186	12644301	Disease	p.Arg526Trp	VAR_021004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021004	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	522	cd03685	14149607,NP_001278
1186	12644301	Disease	p.Arg526Trp	VAR_021004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021004	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	347	cd01034	14149607,NP_001278
1186	12644301	Disease	p.Arg526Trp	VAR_021004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021004	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	481	COG0038	14149607,NP_001278
1186	12644301	Disease	p.Arg526Trp	VAR_021004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021004	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	380	cd01031	14149607,NP_001278
1186	12644301	Disease	p.Arg526Trp	VAR_021004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021004	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	419	cd03683	14149607,NP_001278
1186	12644301	Disease	p.Leu614Pro	VAR_021005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021005	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	611	cd03685	14149607,NP_001278
1186	12644301	Disease	p.Leu614Pro	VAR_021005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021005	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	587	COG0038	14149607,NP_001278
1186	12644301	Disease	p.Leu614Pro	VAR_021005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021005	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	514	cd03683	14149607,NP_001278
1186	12644301	Disease	p.Ser744Phe	VAR_021007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021007	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	335	COG0517	14149607,NP_001278
1186	12644301	Disease	p.Ser744Phe	VAR_021007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021007	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	230	cd04591	14149607,NP_001278
1186	12644301	Disease	p.Ser744Phe	VAR_021007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021007	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	109	cd04612	14149607,NP_001278
1186	12644301	Disease	p.Ser744Phe	VAR_021007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021007	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	24	pfam00571	14149607,NP_001278
1186	12644301	Disease	p.Ser744Phe	VAR_021007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021007	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	147	cd02205	14149607,NP_001278
1186	12644301	Disease	p.Arg762Gln	VAR_017838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017838	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	353	COG0517	14149607,NP_001278
1186	12644301	Disease	p.Arg762Gln	VAR_017838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017838	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	252	cd04591	14149607,NP_001278
1186	12644301	Disease	p.Arg762Gln	VAR_017838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017838	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	19	smart00116	14149607,NP_001278
1186	12644301	Disease	p.Arg762Gln	VAR_017838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017838	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	127	cd04612	14149607,NP_001278
1186	12644301	Disease	p.Arg762Gln	VAR_017838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017838	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	51	pfam00571	14149607,NP_001278
1186	12644301	Disease	p.Arg762Gln	VAR_017838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017838	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	182	cd02205	14149607,NP_001278
1186	12644301	Disease	p.Leu766Pro	VAR_017839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017839	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	382	COG0517	14149607,NP_001278
1186	12644301	Disease	p.Leu766Pro	VAR_017839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017839	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	256	cd04591	14149607,NP_001278
1186	12644301	Disease	p.Leu766Pro	VAR_017839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017839	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	28	smart00116	14149607,NP_001278
1186	12644301	Disease	p.Leu766Pro	VAR_017839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017839	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	132	cd04612	14149607,NP_001278
1186	12644301	Disease	p.Leu766Pro	VAR_017839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017839	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	66	pfam00571	14149607,NP_001278
1186	12644301	Disease	p.Leu766Pro	VAR_017839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017839	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	195	cd02205	14149607,NP_001278
1186	12644301	Disease	p.Arg767Gln	VAR_021008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021008	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	383	COG0517	14149607,NP_001278
1186	12644301	Disease	p.Arg767Gln	VAR_021008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021008	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	257	cd04591	14149607,NP_001278
1186	12644301	Disease	p.Arg767Gln	VAR_021008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021008	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	29	smart00116	14149607,NP_001278
1186	12644301	Disease	p.Arg767Gln	VAR_021008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021008	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	133	cd04612	14149607,NP_001278
1186	12644301	Disease	p.Arg767Gln	VAR_021008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021008	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	67	pfam00571	14149607,NP_001278
1186	12644301	Disease	p.Arg767Gln	VAR_021008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021008	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	196	cd02205	14149607,NP_001278
1186	12644301	Disease	p.Arg767Trp	VAR_017840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017840	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	383	COG0517	14149607,NP_001278
1186	12644301	Disease	p.Arg767Trp	VAR_017840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017840	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	257	cd04591	14149607,NP_001278
1186	12644301	Disease	p.Arg767Trp	VAR_017840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017840	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	29	smart00116	14149607,NP_001278
1186	12644301	Disease	p.Arg767Trp	VAR_017840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017840	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	133	cd04612	14149607,NP_001278
1186	12644301	Disease	p.Arg767Trp	VAR_017840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017840	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	67	pfam00571	14149607,NP_001278
1186	12644301	Disease	p.Arg767Trp	VAR_017840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017840	- Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]	SWISS	196	cd02205	14149607,NP_001278
1187	1705857	Disease	p.Trp80Cys	VAR_063074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063074	- Bartter syndrome type 4B (BS4B) [MIM:613090]	SWISS	24	cd01036	112382220,NP_004061
1187	1705857	Disease	p.Trp80Cys	VAR_063074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063074	- Bartter syndrome type 4B (BS4B) [MIM:613090]	SWISS	65	cd03684	112382220,NP_004061
1187	1705857	Disease	p.Trp80Cys	VAR_063074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063074	- Bartter syndrome type 4B (BS4B) [MIM:613090]	SWISS	24	cd00400	112382220,NP_004061
1187	1705857	Disease	p.Trp80Cys	VAR_063074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063074	- Bartter syndrome type 4B (BS4B) [MIM:613090]	SWISS	20	cd01034	112382220,NP_004061
1187	1705857	Disease	p.Trp80Cys	VAR_063074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063074	- Bartter syndrome type 4B (BS4B) [MIM:613090]	SWISS	32	cd03683	112382220,NP_004061
1187	1705857	Disease	p.Trp80Cys	VAR_063074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063074	- Bartter syndrome type 4B (BS4B) [MIM:613090]	SWISS	25	cd01031	112382220,NP_004061
1187	1705857	Disease	p.Trp80Cys	VAR_063074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063074	- Bartter syndrome type 4B (BS4B) [MIM:613090]	SWISS	61	cd03685	112382220,NP_004061
1187	1705857	Disease	p.Trp80Cys	VAR_063074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063074	- Bartter syndrome type 4B (BS4B) [MIM:613090]	SWISS	60	COG0038	112382220,NP_004061
1188	288558843	Disease	p.Pro124Leu	VAR_001624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001624	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	121	cd03685	155969705,NP_000076
1188	288558843	Disease	p.Pro124Leu	VAR_001624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001624	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	107	cd01036	155969705,NP_000076
1188	288558843	Disease	p.Pro124Leu	VAR_001624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001624	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	187	cd03684	155969705,NP_000076
1188	288558843	Disease	p.Pro124Leu	VAR_001624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001624	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	115	cd00400	155969705,NP_000076
1188	288558843	Disease	p.Pro124Leu	VAR_001624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001624	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	38	pfam00654	155969705,NP_000076
1188	288558843	Disease	p.Pro124Leu	VAR_001624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001624	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	67	cd01034	155969705,NP_000076
1188	288558843	Disease	p.Pro124Leu	VAR_001624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001624	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	95	cd03683	155969705,NP_000076
1188	288558843	Disease	p.Pro124Leu	VAR_001624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001624	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	75	cd01031	155969705,NP_000076
1188	288558843	Disease	p.Pro124Leu	VAR_001624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001624	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	156	COG0038	155969705,NP_000076
1188	288558843	Disease	p.Ala204Thr	VAR_001625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001625	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	205	cd03685	155969705,NP_000076
1188	288558843	Disease	p.Ala204Thr	VAR_001625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001625	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	195	cd01036	155969705,NP_000076
1188	288558843	Disease	p.Ala204Thr	VAR_001625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001625	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	267	cd03684	155969705,NP_000076
1188	288558843	Disease	p.Ala204Thr	VAR_001625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001625	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	205	cd00400	155969705,NP_000076
1188	288558843	Disease	p.Ala204Thr	VAR_001625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001625	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	159	pfam00654	155969705,NP_000076
1188	288558843	Disease	p.Ala204Thr	VAR_001625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001625	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	150	cd01034	155969705,NP_000076
1188	288558843	Disease	p.Ala204Thr	VAR_001625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001625	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	177	cd03683	155969705,NP_000076
1188	288558843	Disease	p.Ala204Thr	VAR_001625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001625	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	148	cd01031	155969705,NP_000076
1188	288558843	Disease	p.Ala204Thr	VAR_001625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001625	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	237	COG0038	155969705,NP_000076
1188	288558843	Disease	p.Ala349Asp	VAR_001626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001626	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	353	cd03685	155969705,NP_000076
1188	288558843	Disease	p.Ala349Asp	VAR_001626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001626	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	356	cd01036	155969705,NP_000076
1188	288558843	Disease	p.Ala349Asp	VAR_001626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001626	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	427	cd03684	155969705,NP_000076
1188	288558843	Disease	p.Ala349Asp	VAR_001626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001626	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	378	cd00400	155969705,NP_000076
1188	288558843	Disease	p.Ala349Asp	VAR_001626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001626	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	437	pfam00654	155969705,NP_000076
1188	288558843	Disease	p.Ala349Asp	VAR_001626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001626	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	287	cd01034	155969705,NP_000076
1188	288558843	Disease	p.Ala349Asp	VAR_001626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001626	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	324	cd03683	155969705,NP_000076
1188	288558843	Disease	p.Ala349Asp	VAR_001626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001626	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	314_G	cd01031	155969705,NP_000076
1188	288558843	Disease	p.Ala349Asp	VAR_001626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001626	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	405	COG0038	155969705,NP_000076
1188	288558843	Disease	p.Tyr432His	VAR_001627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001627	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	516	cd03685	155969705,NP_000076
1188	288558843	Disease	p.Tyr432His	VAR_001627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001627	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	527	cd01036	155969705,NP_000076
1188	288558843	Disease	p.Tyr432His	VAR_001627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001627	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	513	cd03684	155969705,NP_000076
1188	288558843	Disease	p.Tyr432His	VAR_001627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001627	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	492	cd00400	155969705,NP_000076
1188	288558843	Disease	p.Tyr432His	VAR_001627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001627	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	686	pfam00654	155969705,NP_000076
1188	288558843	Disease	p.Tyr432His	VAR_001627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001627	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	339_G	cd01034	155969705,NP_000076
1188	288558843	Disease	p.Tyr432His	VAR_001627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001627	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	413	cd03683	155969705,NP_000076
1188	288558843	Disease	p.Tyr432His	VAR_001627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001627	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	374	cd01031	155969705,NP_000076
1188	288558843	Disease	p.Tyr432His	VAR_001627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001627	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	475	COG0038	155969705,NP_000076
1188	288558843	Disease	p.Arg438Cys	VAR_001628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001628	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	522	cd03685	155969705,NP_000076
1188	288558843	Disease	p.Arg438Cys	VAR_001628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001628	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	533	cd01036	155969705,NP_000076
1188	288558843	Disease	p.Arg438Cys	VAR_001628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001628	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	519	cd03684	155969705,NP_000076
1188	288558843	Disease	p.Arg438Cys	VAR_001628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001628	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	498	cd00400	155969705,NP_000076
1188	288558843	Disease	p.Arg438Cys	VAR_001628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001628	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	692	pfam00654	155969705,NP_000076
1188	288558843	Disease	p.Arg438Cys	VAR_001628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001628	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	343	cd01034	155969705,NP_000076
1188	288558843	Disease	p.Arg438Cys	VAR_001628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001628	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	419	cd03683	155969705,NP_000076
1188	288558843	Disease	p.Arg438Cys	VAR_001628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001628	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	380	cd01031	155969705,NP_000076
1188	288558843	Disease	p.Arg438Cys	VAR_001628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001628	- Bartter syndrome type 3 (BS3) [MIM:607364]	SWISS	481	COG0038	155969705,NP_000076
23562	6685304	Disease	p.Val85Asp	VAR_010738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010738	- Deafness autosomal recessive type 29 (DFNB29) [MIM:605608]	SWISS	95	pfam00822	6912314,NP_036262|225703140,NP_001139550|225703142,NP_001139551|21536294,NP_652763|225703138,NP_001139549
10686	6685318	Disease	p.Met71Arg	VAR_008173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008173	- Hypomagnesemia type 3 (HOMG3) [MIM:248250]	SWISS	No Domain	N/A	5729970,NP_006571
10686	6685318	Disease	p.His141Asp	VAR_017228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017228	- Hypomagnesemia type 3 (HOMG3) [MIM:248250]	SWISS	84	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Leu145Pro	VAR_017229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017229	- Hypomagnesemia type 3 (HOMG3) [MIM:248250]	SWISS	87	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Arg149Leu	VAR_017230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017230	- Hypomagnesemia type 3 (HOMG3) [MIM:248250]	SWISS	91	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Leu151Phe	VAR_017231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017231	- Hypomagnesemia type 3 (HOMG3) [MIM:248250]	SWISS	93	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Leu151Pro	VAR_017232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017232	- Hypomagnesemia type 3 (HOMG3) [MIM:248250]	SWISS	93	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Leu151Trp	VAR_017233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017233	- Hypomagnesemia type 3 (HOMG3) [MIM:248250]	SWISS	93	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Leu167Pro	VAR_008174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008174	- Hypomagnesemia type 3 (HOMG3) [MIM:248250]	SWISS	113	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Gly191Arg	VAR_008175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008175	- Hypomagnesemia type 3 (HOMG3) [MIM:248250]	SWISS	137	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Gly198Ala	VAR_017234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017234	- Hypomagnesemia type 3 (HOMG3) [MIM:248250]	SWISS	144	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Gly198Asp	VAR_008176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008176	- Hypomagnesemia type 3 (HOMG3) [MIM:248250]	SWISS	144	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Ala209Thr	VAR_017235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017235	- Hypomagnesemia type 3 (HOMG3) [MIM:248250]	SWISS	155	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Arg216Thr	VAR_017236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017236	- Hypomagnesemia type 3 (HOMG3) [MIM:248250]	SWISS	161	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Phe232Cys	VAR_008177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008177	- Hypomagnesemia type 3 (HOMG3) [MIM:248250]	SWISS	177	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Gly233Asp	VAR_008178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008178	- Hypomagnesemia type 3 (HOMG3) [MIM:248250]	SWISS	178	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Ser235Phe	VAR_008179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008179	- Hypomagnesemia type 3 (HOMG3) [MIM:248250]	SWISS	180	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Ser235Pro	VAR_017237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017237	- Hypomagnesemia type 3 (HOMG3) [MIM:248250]	SWISS	180	pfam00822	5729970,NP_006571
10686	6685318	Disease	p.Gly239Arg	VAR_008172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008172	- Hypomagnesemia type 3 (HOMG3) [MIM:248250]	SWISS	184	pfam00822	5729970,NP_006571
149461	47606757	Disease	p.Gly20Asp	VAR_031239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031239	- Hypomagnesemia renal with ocular involvement (HOMGO) [MIM:248190]	SWISS	17	pfam00822	183979973,NP_683763
149461	47606757	Disease	p.Gln57Glu	VAR_031240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031240	- Hypomagnesemia renal with ocular involvement (HOMGO) [MIM:248190]	SWISS	66	pfam00822	183979973,NP_683763
149461	47606757	Disease	p.Leu90Pro	VAR_031241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031241	- Hypomagnesemia renal with ocular involvement (HOMGO) [MIM:248190]	SWISS	104	pfam00822	183979973,NP_683763
1201	2498243	Disease	p.Leu101Pro	VAR_005131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005131	- Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]	SWISS	65	pfam02487	4502889,NP_000077|109698601,NP_001035897
1201	2498243	Disease	p.Leu170Pro	VAR_005132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005132	- Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]	SWISS	134	pfam02487	4502889,NP_000077|109698601,NP_001035897
1201	2498243	Disease	p.Glu295Lys	VAR_005133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005133	- Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]	SWISS	283	pfam02487	4502889,NP_000077|109698601,NP_001035897
1201	2498243	Disease	p.Val330Phe	VAR_005134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005134	- Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]	SWISS	329	pfam02487	4502889,NP_000077|109698601,NP_001035897
1201	2498243	Disease	p.Arg334Cys	VAR_005135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005135	- Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]	SWISS	333	pfam02487	4502889,NP_000077|109698601,NP_001035897
1201	2498243	Disease	p.Arg334His	VAR_005136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005136	- Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]	SWISS	333	pfam02487	4502889,NP_000077|109698601,NP_001035897
1203	187608866	Disease	p.Arg63His	VAR_042700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042700	- Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]	SWISS	No Domain	N/A	NULL
1203	187608866	Disease	p.Arg63Pro	VAR_042702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042702	- Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]	SWISS	No Domain	N/A	NULL
1203	187608866	Disease	p.Tyr209Asp	VAR_042701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042701	- Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]	SWISS	No Domain	N/A	NULL
1203	187608866	Disease	p.Asp230Asn	VAR_005137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005137	- Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]	SWISS	No Domain	N/A	NULL
1203	187608866	Disease	p.Trp330Cys	VAR_059032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059032	- Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]	SWISS	No Domain	N/A	NULL
54982	32129457	Disease	p.Arg62His	VAR_021549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021549	- Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]	SWISS	No Domain	N/A	8923532,NP_060352
54982	32129457	Disease	p.Glu72Gln	VAR_021550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021550	- Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]	SWISS	No Domain	N/A	8923532,NP_060352
54982	32129457	Disease	p.Gly123Asp	VAR_015683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015683	rs28939384 Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]	SWISS	No Domain	N/A	8923532,NP_060352
54982	32129457	Disease	p.Pro159Leu	VAR_058436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058436	- Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]	SWISS	No Domain	N/A	8923532,NP_060352
54982	32129457	Disease	p.Tyr221Cys	VAR_058437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058437	- Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]	SWISS	No Domain	N/A	8923532,NP_060352
54982	32129457	Disease	p.Tyr221Ser	VAR_021551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021551	- Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]	SWISS	No Domain	N/A	8923532,NP_060352
54982	32129457	Disease	p.Met241Thr	VAR_021552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021552	- Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]	SWISS	No Domain	N/A	8923532,NP_060352
54982	32129457	Disease	p.Pro299Leu	VAR_021554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021554	- Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]	SWISS	No Domain	N/A	8923532,NP_060352
54982	32129457	Disease	p.Trp300Arg	VAR_015686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015686	- Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]	SWISS	No Domain	N/A	8923532,NP_060352
2055	145559455	Disease	p.Leu16Met	VAR_026554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026554	- Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]	SWISS	No Domain	N/A	31083053,NP_061764
2055	145559455	Disease	p.Arg24Gly	VAR_013174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013174	- Neuronal ceroid lipofuscinosis type 8 Northern epilepsy variant (CLN8NE) [MIM:610003]	SWISS	No Domain	N/A	31083053,NP_061764
2055	145559455	Disease	p.Ala30Pro	VAR_060573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060573	- Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]	SWISS	No Domain	N/A	31083053,NP_061764
2055	145559455	Disease	p.Tyr158Cys	VAR_058438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058438	- Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]	SWISS	433	pfam03798	31083053,NP_061764
2055	145559455	Disease	p.Tyr158Cys	VAR_058438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058438	- Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]	SWISS	190	smart00724	31083053,NP_061764
2055	145559455	Disease	p.Thr170Met	VAR_026555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026555	- Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]	SWISS	447	pfam03798	31083053,NP_061764
2055	145559455	Disease	p.Thr170Met	VAR_026555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026555	- Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]	SWISS	205	smart00724	31083053,NP_061764
2055	145559455	Disease	p.Gln194Arg	VAR_060575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060575	- Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]	SWISS	560	pfam03798	31083053,NP_061764
2055	145559455	Disease	p.Gln194Arg	VAR_060575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060575	- Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]	SWISS	238	smart00724	31083053,NP_061764
2055	145559455	Disease	p.Arg204Cys	VAR_026556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026556	- Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]	SWISS	576	pfam03798	31083053,NP_061764
2055	145559455	Disease	p.Arg204Cys	VAR_026556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026556	- Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]	SWISS	248	smart00724	31083053,NP_061764
2055	145559455	Disease	p.Gly237Arg	VAR_058439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058439	- Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]	SWISS	899	pfam03798	31083053,NP_061764
2055	145559455	Disease	p.Gly237Arg	VAR_058439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058439	- Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]	SWISS	340	smart00724	31083053,NP_061764
2055	145559455	Disease	p.Trp263Cys	VAR_026557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026557	rs28940569 Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]	SWISS	No Domain	N/A	31083053,NP_061764
7401	125987806	Disease	p.Cys40Gly	VAR_054555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054555	- Usher syndrome type 3 (USH3) [MIM:276902]	SWISS	No Domain	N/A	28144908,NP_777367
7401	125987806	Disease	p.Asn48Lys	VAR_030345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030345	- Usher syndrome type 3 (USH3) [MIM:276902]	SWISS	No Domain	N/A	28144908,NP_777367
7401	125987806	Disease	p.Ser105Pro	VAR_054556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054556	- Usher syndrome type 3 (USH3) [MIM:276902]	SWISS	No Domain	N/A	28144908,NP_777367
7401	125987806	Disease	p.Met120Lys	VAR_012241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012241	- Usher syndrome type 3 (USH3) [MIM:276902]	SWISS	No Domain	N/A	28144908,NP_777367
7401	125987806	Disease	p.Leu150Pro	VAR_030346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030346	- Usher syndrome type 3 (USH3) [MIM:276902]	SWISS	No Domain	N/A	28144908,NP_777367
1259	239938910	Disease	p.Ser320Phe	VAR_009297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009297	- Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	SWISS	193	pfam00520	71143141,NP_000078
1261	13959682	Disease	p.Asp162Val	VAR_047566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047566	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	No Domain	N/A	4502917,NP_001289
1261	13959682	Disease	p.Pro163Leu	VAR_010903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010903	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	No Domain	N/A	4502917,NP_001289
1261	13959682	Disease	p.Tyr181Cys	VAR_047567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047567	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	No Domain	N/A	4502917,NP_001289
1261	13959682	Disease	p.Asn182Tyr	VAR_047568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047568	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	No Domain	N/A	4502917,NP_001289
1261	13959682	Disease	p.Leu186Phe	VAR_047569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047569	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	No Domain	N/A	4502917,NP_001289
1261	13959682	Disease	p.Cys191Tyr	VAR_047570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047570	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	No Domain	N/A	4502917,NP_001289
1261	13959682	Disease	p.Glu194Lys	VAR_047571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047571	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	No Domain	N/A	4502917,NP_001289
1261	13959682	Disease	p.Arg223Trp	VAR_047572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047572	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	19	pfam00520	4502917,NP_001289
1261	13959682	Disease	p.Thr224Arg	VAR_047573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047573	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	20	pfam00520	4502917,NP_001289
1261	13959682	Disease	p.Glu228Lys	VAR_047574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047574	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	24	pfam00520	4502917,NP_001289
1261	13959682	Disease	p.Phe249Ser	VAR_047575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047575	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	54	pfam00520	4502917,NP_001289
1261	13959682	Disease	p.Asp260Asn	VAR_047576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047576	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	65	pfam00520	4502917,NP_001289
1261	13959682	Disease	p.Tyr263Asp	VAR_047577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047577	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	68	pfam00520	4502917,NP_001289
1261	13959682	Disease	p.Gly267Asp	VAR_047578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047578	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	72	pfam00520	4502917,NP_001289
1261	13959682	Disease	p.Arg277Cys	VAR_047579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047579	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	130	pfam00520	4502917,NP_001289
1261	13959682	Disease	p.Arg277His	VAR_047580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047580	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	130	pfam00520	4502917,NP_001289
1261	13959682	Disease	p.Arg283Gln	VAR_010904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010904	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	139	pfam00520	4502917,NP_001289
1261	13959682	Disease	p.Arg283Trp	VAR_010905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010905	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	139	pfam00520	4502917,NP_001289
1261	13959682	Disease	p.Thr291Arg	VAR_010906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010906	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	150	pfam00520	4502917,NP_001289
1261	13959682	Disease	p.Ser341Pro	VAR_047582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047582	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	211	pfam00520	4502917,NP_001289
1261	13959682	Disease	p.Thr369Ser	VAR_047583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047583	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	345	pfam00520	4502917,NP_001289
1261	13959682	Disease	p.Pro372Ser	VAR_047584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047584	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	348	pfam00520	4502917,NP_001289
1261	13959682	Disease	p.Phe380Ser	VAR_047585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047585	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	387	pfam00520	4502917,NP_001289
1261	13959682	Disease	p.Ser401Pro	VAR_047586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047586	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	No Domain	N/A	4502917,NP_001289
1261	13959682	Disease	p.Met406Thr	VAR_047587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047587	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	No Domain	N/A	4502917,NP_001289
1261	13959682	Disease	p.Arg410Trp	VAR_010910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010910	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	No Domain	N/A	4502917,NP_001289
1261	13959682	Disease	p.Arg427Cys	VAR_047588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047588	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	No Domain	N/A	4502917,NP_001289
1261	13959682	Disease	p.Arg436Trp	VAR_047589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047589	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	No Domain	N/A	4502917,NP_001289
1261	13959682	Disease	p.Arg439Trp	VAR_047590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047590	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	No Domain	N/A	4502917,NP_001289
1261	13959682	Disease	p.Ala469Thr	VAR_047591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047591	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	No Domain	N/A	4502917,NP_001289
1261	13959682	Disease	p.Asn471Ser	VAR_047592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047592	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	No Domain	N/A	4502917,NP_001289
1261	13959682	Disease	p.Asp485Val	VAR_047593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047593	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	4	smart00100	4502917,NP_001289
1261	13959682	Disease	p.Asp485Val	VAR_047593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047593	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	4	cd00038	4502917,NP_001289
1261	13959682	Disease	p.Cys510Ser	VAR_047594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047594	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	42	smart00100	4502917,NP_001289
1261	13959682	Disease	p.Cys510Ser	VAR_047594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047594	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	37	cd00038	4502917,NP_001289
1261	13959682	Disease	p.Cys510Ser	VAR_047594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047594	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	11	pfam00027	4502917,NP_001289
1261	13959682	Disease	p.Gly513Glu	VAR_047595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047595	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	45	smart00100	4502917,NP_001289
1261	13959682	Disease	p.Gly513Glu	VAR_047595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047595	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	40	cd00038	4502917,NP_001289
1261	13959682	Disease	p.Gly513Glu	VAR_047595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047595	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	14	pfam00027	4502917,NP_001289
1261	13959682	Disease	p.Gly516Glu	VAR_047596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047596	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	48	smart00100	4502917,NP_001289
1261	13959682	Disease	p.Gly516Glu	VAR_047596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047596	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	48	cd00038	4502917,NP_001289
1261	13959682	Disease	p.Gly516Glu	VAR_047596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047596	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	20	pfam00027	4502917,NP_001289
1261	13959682	Disease	p.Ile522Thr	VAR_047597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047597	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	54	smart00100	4502917,NP_001289
1261	13959682	Disease	p.Ile522Thr	VAR_047597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047597	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	54	cd00038	4502917,NP_001289
1261	13959682	Disease	p.Ile522Thr	VAR_047597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047597	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	26	pfam00027	4502917,NP_001289
1261	13959682	Disease	p.Gly525Asp	VAR_047598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047598	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	57	smart00100	4502917,NP_001289
1261	13959682	Disease	p.Gly525Asp	VAR_047598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047598	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	57	cd00038	4502917,NP_001289
1261	13959682	Disease	p.Gly525Asp	VAR_047598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047598	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	29	pfam00027	4502917,NP_001289
1261	13959682	Disease	p.Val529Met	VAR_010907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010907	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	61	smart00100	4502917,NP_001289
1261	13959682	Disease	p.Val529Met	VAR_010907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010907	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	61	cd00038	4502917,NP_001289
1261	13959682	Disease	p.Val529Met	VAR_010907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010907	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	33	pfam00027	4502917,NP_001289
1261	13959682	Disease	p.Phe547Leu	VAR_010908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010908	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	129	smart00100	4502917,NP_001289
1261	13959682	Disease	p.Phe547Leu	VAR_010908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010908	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	101	cd00038	4502917,NP_001289
1261	13959682	Disease	p.Phe547Leu	VAR_010908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010908	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	87	pfam00027	4502917,NP_001289
1261	13959682	Disease	p.Gly548Arg	VAR_047599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047599	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	130	smart00100	4502917,NP_001289
1261	13959682	Disease	p.Gly548Arg	VAR_047599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047599	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	102	cd00038	4502917,NP_001289
1261	13959682	Disease	p.Gly548Arg	VAR_047599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047599	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	88	pfam00027	4502917,NP_001289
1261	13959682	Disease	p.Gly557Arg	VAR_010909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010909	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	143	smart00100	4502917,NP_001289
1261	13959682	Disease	p.Gly557Arg	VAR_010909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010909	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	125	cd00038	4502917,NP_001289
1261	13959682	Disease	p.Gly557Arg	VAR_010909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010909	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	98	pfam00027	4502917,NP_001289
1261	13959682	Disease	p.Arg563His	VAR_047600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047600	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	168	smart00100	4502917,NP_001289
1261	13959682	Disease	p.Arg563His	VAR_047600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047600	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	131	cd00038	4502917,NP_001289
1261	13959682	Disease	p.Arg563His	VAR_047600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047600	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	104	pfam00027	4502917,NP_001289
1261	13959682	Disease	p.Thr565Met	VAR_047601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047601	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	170	smart00100	4502917,NP_001289
1261	13959682	Disease	p.Thr565Met	VAR_047601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047601	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	133	cd00038	4502917,NP_001289
1261	13959682	Disease	p.Thr565Met	VAR_047601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047601	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	106	pfam00027	4502917,NP_001289
1261	13959682	Disease	p.Arg569His	VAR_047602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047602	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	177	smart00100	4502917,NP_001289
1261	13959682	Disease	p.Arg569His	VAR_047602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047602	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	137	cd00038	4502917,NP_001289
1261	13959682	Disease	p.Arg569His	VAR_047602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047602	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	110	pfam00027	4502917,NP_001289
1261	13959682	Disease	p.Tyr573Cys	VAR_047603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047603	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	199	smart00100	4502917,NP_001289
1261	13959682	Disease	p.Tyr573Cys	VAR_047603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047603	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	144	cd00038	4502917,NP_001289
1261	13959682	Disease	p.Tyr573Cys	VAR_047603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047603	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	119	pfam00027	4502917,NP_001289
1261	13959682	Disease	p.Glu590Lys	VAR_047604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047604	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	216	smart00100	4502917,NP_001289
1261	13959682	Disease	p.Glu590Lys	VAR_047604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047604	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	168	cd00038	4502917,NP_001289
1261	13959682	Disease	p.Glu590Lys	VAR_047604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047604	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	137	pfam00027	4502917,NP_001289
1261	13959682	Disease	p.Glu593Lys	VAR_047605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047605	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	219	smart00100	4502917,NP_001289
1261	13959682	Disease	p.Glu593Lys	VAR_047605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047605	- Achromatopsia type 2 (ACHM2) [MIM:216900]	SWISS	172	cd00038	4502917,NP_001289
1258	257051004	Disease	p.Gly993Val	VAR_060491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060491	- Retinitis pigmentosa type 45 (RP45) [MIM:600724]	SWISS	89	COG0664	114205399,NP_001288
1258	257051004	Disease	p.Gly993Val	VAR_060491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060491	- Retinitis pigmentosa type 45 (RP45) [MIM:600724]	SWISS	45	smart00100	114205399,NP_001288
1258	257051004	Disease	p.Gly993Val	VAR_060491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060491	- Retinitis pigmentosa type 45 (RP45) [MIM:600724]	SWISS	40	cd00038	114205399,NP_001288
1258	257051004	Disease	p.Gly993Val	VAR_060491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060491	- Retinitis pigmentosa type 45 (RP45) [MIM:600724]	SWISS	14	pfam00027	114205399,NP_001288
54714	311033366	Disease	p.Gly107Arg	VAR_047608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047608	- Achromatopsia type 3 (ACHM3) [MIM:262300]	SWISS	No Domain	N/A	116642889,NP_061971
54714	311033366	Disease	p.Lys148Glu	VAR_047609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047609	- Achromatopsia type 3 (ACHM3) [MIM:262300]	SWISS	No Domain	N/A	116642889,NP_061971
54714	311033366	Disease	p.Ser156Phe	VAR_047610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047610	- Achromatopsia type 3 (ACHM3) [MIM:262300]	SWISS	No Domain	N/A	116642889,NP_061971
54714	311033366	Disease	p.Glu199Lys	VAR_047611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047611	- Achromatopsia type 3 (ACHM3) [MIM:262300]	SWISS	No Domain	N/A	116642889,NP_061971
54714	311033366	Disease	p.Arg203Gln	VAR_025524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025524	rs16916632 Achromatopsia type 3 (ACHM3) [MIM:262300]	SWISS	No Domain	N/A	116642889,NP_061971
54714	311033366	Disease	p.Pro309Leu	VAR_047612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047612	- Achromatopsia type 3 (ACHM3) [MIM:262300]	SWISS	63	pfam00520	116642889,NP_061971
54714	311033366	Disease	p.Ser435Phe	VAR_018111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018111	- Achromatopsia type 3 (ACHM3) [MIM:262300]	SWISS	401	pfam00520	116642889,NP_061971
54714	311033366	Disease	p.Met466Thr	VAR_047614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047614	rs35010099 Achromatopsia type 3 (ACHM3) [MIM:262300]	SWISS	No Domain	N/A	116642889,NP_061971
54714	311033366	Disease	p.Tyr469Asp	VAR_047615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047615	rs35365413 Stargardt disease type 1 (STGD1) [MIM:248200]	SWISS	No Domain	N/A	116642889,NP_061971
54714	311033366	Disease	p.Asp494Asn	VAR_047616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047616	- Achromatopsia type 3 (ACHM3) [MIM:262300]	SWISS	No Domain	N/A	116642889,NP_061971
54714	311033366	Disease	p.Asp513Tyr	VAR_047617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047617	- Achromatopsia type 3 (ACHM3) [MIM:262300]	SWISS	No Domain	N/A	116642889,NP_061971
54714	311033366	Disease	p.Phe525Asn	VAR_047618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047618	- Achromatopsia type 3 (ACHM3) [MIM:262300]	SWISS	2	cd00038	116642889,NP_061971
54714	311033366	Disease	p.Phe525Asn	VAR_047618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047618	- Achromatopsia type 3 (ACHM3) [MIM:262300]	SWISS	2	smart00100	116642889,NP_061971
54714	311033366	Disease	p.Gly558Cys	VAR_047619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047619	- Achromatopsia type 3 (ACHM3) [MIM:262300]	SWISS	20	pfam00027	116642889,NP_061971
54714	311033366	Disease	p.Gly558Cys	VAR_047619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047619	- Achromatopsia type 3 (ACHM3) [MIM:262300]	SWISS	48	cd00038	116642889,NP_061971
54714	311033366	Disease	p.Gly558Cys	VAR_047619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047619	- Achromatopsia type 3 (ACHM3) [MIM:262300]	SWISS	48	smart00100	116642889,NP_061971
54714	311033366	Disease	p.Leu595Phe	VAR_047620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047620	- Achromatopsia type 3 (ACHM3) [MIM:262300]	SWISS	92	pfam00027	116642889,NP_061971
54714	311033366	Disease	p.Leu595Phe	VAR_047620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047620	- Achromatopsia type 3 (ACHM3) [MIM:262300]	SWISS	106	cd00038	116642889,NP_061971
54714	311033366	Disease	p.Leu595Phe	VAR_047620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047620	- Achromatopsia type 3 (ACHM3) [MIM:262300]	SWISS	138	smart00100	116642889,NP_061971
54714	311033366	Disease	p.Thr672Pro	VAR_047621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047621	- Achromatopsia type 3 (ACHM3) [MIM:262300]	SWISS	No Domain	N/A	116642889,NP_061971
26504	224471892	Disease	p.Ser196Pro	VAR_058319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058319	- Jalili syndrome (JALIS) [MIM:217080]	SWISS	17	COG1253	94681046,NP_064569
26504	224471892	Disease	p.Ser196Pro	VAR_058319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058319	- Jalili syndrome (JALIS) [MIM:217080]	SWISS	16	COG4536	94681046,NP_064569
26504	224471892	Disease	p.Ser196Pro	VAR_058319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058319	- Jalili syndrome (JALIS) [MIM:217080]	SWISS	14	pfam01595	94681046,NP_064569
26504	224471892	Disease	p.Ser200Tyr	VAR_058320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058320	- Jalili syndrome (JALIS) [MIM:217080]	SWISS	21	COG1253	94681046,NP_064569
26504	224471892	Disease	p.Ser200Tyr	VAR_058320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058320	- Jalili syndrome (JALIS) [MIM:217080]	SWISS	20	COG4536	94681046,NP_064569
26504	224471892	Disease	p.Ser200Tyr	VAR_058320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058320	- Jalili syndrome (JALIS) [MIM:217080]	SWISS	18	pfam01595	94681046,NP_064569
26504	224471892	Disease	p.Arg236Gln	VAR_058321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058321	- Jalili syndrome (JALIS) [MIM:217080]	SWISS	58	COG1253	94681046,NP_064569
26504	224471892	Disease	p.Arg236Gln	VAR_058321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058321	- Jalili syndrome (JALIS) [MIM:217080]	SWISS	52	COG4536	94681046,NP_064569
26504	224471892	Disease	p.Arg236Gln	VAR_058321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058321	- Jalili syndrome (JALIS) [MIM:217080]	SWISS	73	pfam01595	94681046,NP_064569
26504	224471892	Disease	p.Leu324Pro	VAR_058322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058322	- Jalili syndrome (JALIS) [MIM:217080]	SWISS	175	COG1253	94681046,NP_064569
26504	224471892	Disease	p.Leu324Pro	VAR_058322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058322	- Jalili syndrome (JALIS) [MIM:217080]	SWISS	152	COG4536	94681046,NP_064569
26504	224471892	Disease	p.Leu324Pro	VAR_058322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058322	- Jalili syndrome (JALIS) [MIM:217080]	SWISS	20	COG4535	94681046,NP_064569
26504	224471892	Disease	p.Leu324Pro	VAR_058322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058322	- Jalili syndrome (JALIS) [MIM:217080]	SWISS	303	pfam01595	94681046,NP_064569
1690	7387582	Disease	p.Pro51Ser	VAR_008532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008532	rs28938175 Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]	SWISS	43	pfam03815	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Pro51Ser	VAR_008532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008532	rs28938175 Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]	SWISS	28	smart00603	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Val66Gly	VAR_008533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008533	- Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]	SWISS	110	pfam03815	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Val66Gly	VAR_008533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008533	- Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]	SWISS	48	smart00603	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Gly88Glu	VAR_008534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008534	- Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]	SWISS	152	pfam03815	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Gly88Glu	VAR_008534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008534	- Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]	SWISS	71	smart00603	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Ile109Asn	VAR_008535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008535	- Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]	SWISS	179	pfam03815	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Ile109Asn	VAR_008535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008535	- Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]	SWISS	92	smart00603	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Trp117Arg	VAR_008536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008536	- Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]	SWISS	192	pfam03815	4758022,NP_004077|205277471,NP_001128530
1690	7387582	Disease	p.Ala119Thr	VAR_017175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017175	- Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]	SWISS	196	pfam03815	4758022,NP_004077|205277471,NP_001128530
25839	311033464	Disease	p.Arg729Trp	VAR_063767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063767	- Congenital disorder of glycosylation type 2J (CDG2J) [MIM:613489]	SWISS	No Domain	N/A	NULL
1300	2506306	Disease	p.Gly18Glu	VAR_001838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001838	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	No Domain	N/A	18105032,NP_000484
1300	2506306	Disease	p.Gly18Arg	VAR_001839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001839	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	No Domain	N/A	18105032,NP_000484
1300	2506306	Disease	p.Tyr582Asp	VAR_023188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023188	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	42	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Tyr582Asp	VAR_023188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023188	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	44	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Cys591Arg	VAR_001841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001841	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	51	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Cys591Arg	VAR_001841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001841	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	53	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Gly595Glu	VAR_001842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001842	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	55	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Gly595Glu	VAR_001842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001842	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	57	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Gly595Arg	VAR_023189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023189	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	55	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Gly595Arg	VAR_023189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023189	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	57	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Tyr597Cys	VAR_008039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008039	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	57	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Tyr597Cys	VAR_008039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008039	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	59	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Tyr597His	VAR_001843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001843	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	57	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Tyr597His	VAR_001843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001843	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	59	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Tyr598Asp	VAR_001844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001844	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	58	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Tyr598Asp	VAR_001844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001844	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	60	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Ser600Pro	VAR_001845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001845	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	60	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Ser600Pro	VAR_001845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001845	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	62	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Leu614Pro	VAR_001846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001846	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	79	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Leu614Pro	VAR_001846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001846	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	78	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Asn617Lys	VAR_001847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001847	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	82	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Asn617Lys	VAR_001847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001847	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	81	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Gly618Val	VAR_001848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001848	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	86	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Gly618Val	VAR_001848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001848	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	82	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Leu644Arg	VAR_001849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001849	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	115	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Leu644Arg	VAR_001849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001849	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	114	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Asp648Gly	VAR_001850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001850	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	119	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Asp648Gly	VAR_001850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001850	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	118	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Trp651Arg	VAR_023191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023191	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	122	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Trp651Arg	VAR_023191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023191	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	121	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Gln653Pro	VAR_023192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023192	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	124	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Gln653Pro	VAR_023192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023192	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	123	smart00110	18105032,NP_000484
1300	2506306	Disease	p.Ser671Pro	VAR_023193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023193	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	144	pfam00386	18105032,NP_000484
1300	2506306	Disease	p.Ser671Pro	VAR_023193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023193	- Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]	SWISS	143	smart00110	18105032,NP_000484
1301	215274245	Disease	p.Gly565Val	VAR_063675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063675	- Stickler syndrome type 2 (STL2) [MIM:604841]	SWISS	43	pfam01391	98985806,NP_001845
1301	215274245	Disease	p.Gly625Val	VAR_013583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013583	- Stickler syndrome type 2 (STL2) [MIM:604841]	SWISS	43	pfam01391	98985806,NP_001845
1301	215274245	Disease	p.Gly676Arg	VAR_013584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013584	- Stickler syndrome type 2 (STL2) [MIM:604841]	SWISS	34	pfam01391	98985806,NP_001845
1301	215274245	Disease	p.Gly1027Arg	VAR_063676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063676	- Stickler syndrome type 2 (STL2) [MIM:604841]	SWISS	25	pfam01391	98985806,NP_001845
1301	215274245	Disease	p.Gly1513Asp	VAR_063678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063678	- Stickler syndrome type 2 (STL2) [MIM:604841]	SWISS	31	pfam01391	98985806,NP_001845
1301	215274245	Disease	p.Gly1516Val	VAR_013587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013587	- Stickler syndrome type 2 (STL2) [MIM:604841]	SWISS	34	pfam01391	98985806,NP_001845
1302	116241308	Disease	p.Pro621Thr	VAR_025276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025276	- Deafness autosomal recessive type 53 (DFNB53) [MIM:609706]	SWISS	21	pfam01391	111118970,NP_542411
1302	116241308	Disease	p.Gly661Arg	VAR_001907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001907	- Autosomal recessive otospondylomegaepiphyseal dysplasia (OSMED) [MIM:215150]	SWISS	No Domain	N/A	111118970,NP_542411
1302	116241308	Disease	p.Gly808Glu	VAR_010655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010655	- Deafness autosomal dominant type 13 (DFNA13) [MIM:601868]	SWISS	28	pfam01391	111118970,NP_542411
1302	116241308	Disease	p.Arg1034Cys	VAR_010656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010656	- Deafness autosomal dominant type 13 (DFNA13) [MIM:601868]	SWISS	17	pfam01391	111118970,NP_542411
1302	116241308	Disease	p.Gly1441Glu	VAR_013595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013595	- Weissenbacher-Zweymueller syndrome (WZS) [MIM:277610]	SWISS	No Domain	N/A	111118970,NP_542411
1308	146345399	Disease	p.Ser265Cys	VAR_017596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017596	- Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]	SWISS	No Domain	N/A	119829187,NP_000485
1308	146345399	Disease	p.Gly627Val	VAR_017598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017598	- Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]	SWISS	No Domain	N/A	119829187,NP_000485
1308	146345399	Disease	p.Gly633Asp	VAR_017599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017599	- Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]	SWISS	7	pfam01391	119829187,NP_000485
1308	146345399	Disease	p.Arg1303Gln	VAR_017601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017601	- Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]	SWISS	No Domain	N/A	119829187,NP_000485
1277	296439504	Disease	p.Gly22Arg	VAR_063290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063290	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	No Domain	N/A	NULL
1277	296439504	Disease	p.Gly194Arg	VAR_063292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063292	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	19	pfam01391	NULL
1277	296439504	Disease	p.Gly197Arg	VAR_063293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063293	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	22	pfam01391	NULL
1277	296439504	Disease	p.Gly200Val	VAR_063294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063294	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	25	pfam01391	NULL
1277	296439504	Disease	p.Gly203Val	VAR_063295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063295	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	28	pfam01391	NULL
1277	296439504	Disease	p.Gly221Cys	VAR_001644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001644	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	46	pfam01391	NULL
1277	296439504	Disease	p.Gly224Cys	VAR_001645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001645	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	49	pfam01391	NULL
1277	296439504	Disease	p.Gly257Arg	VAR_063297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063297	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	22	pfam01391	NULL
1277	296439504	Disease	p.Gly263Arg	VAR_001646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001646	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	28	pfam01391	NULL
1277	296439504	Disease	p.Gly263Val	VAR_001647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001647	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	28	pfam01391	NULL
1277	296439504	Disease	p.Gly266Glu	VAR_063298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063298	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	31	pfam01391	NULL
1277	296439504	Disease	p.Gly272Cys	VAR_001648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001648	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	37	pfam01391	NULL
1277	296439504	Disease	p.Gly275Asp	VAR_001649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001649	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	40	pfam01391	NULL
1277	296439504	Disease	p.Gly287Ser	VAR_063299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063299	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	52	pfam01391	NULL
1277	296439504	Disease	p.Arg312Cys	VAR_013579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013579	- Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]	SWISS	17	pfam01391	NULL
1277	296439504	Disease	p.Gly320Val	VAR_063302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063302	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	25	pfam01391	NULL
1277	296439504	Disease	p.Gly332Arg	VAR_001650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001650	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	37	pfam01391	NULL
1277	296439504	Disease	p.Gly338Cys	VAR_063303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063303	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	43	pfam01391	NULL
1277	296439504	Disease	p.Val349Phe	VAR_063304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063304	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	54	pfam01391	NULL
1277	296439504	Disease	p.Gly350Arg	VAR_001651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001651	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	55	pfam01391	NULL
1277	296439504	Disease	p.Gly353Cys	VAR_001652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001652	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	58	pfam01391	NULL
1277	296439504	Disease	p.Gly353Asp	VAR_063305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063305	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	58	pfam01391	NULL
1277	296439504	Disease	p.Gly353Ser	VAR_063306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063306	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	58	pfam01391	NULL
1277	296439504	Disease	p.Gly356Cys	VAR_001653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001653	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	No Domain	N/A	NULL
1277	296439504	Disease	p.Gly368Val	VAR_063307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063307	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	13	pfam01391	NULL
1277	296439504	Disease	p.Gly383Cys	VAR_001654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001654	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	28	pfam01391	NULL
1277	296439504	Disease	p.Gly389Arg	VAR_001656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001656	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	34	pfam01391	NULL
1277	296439504	Disease	p.Gly398Ala	VAR_001657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001657	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	43	pfam01391	NULL
1277	296439504	Disease	p.Gly398Asp	VAR_001658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001658	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	43	pfam01391	NULL
1277	296439504	Disease	p.Gly401Cys	VAR_001659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001659	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	46	pfam01391	NULL
1277	296439504	Disease	p.Gly422Cys	VAR_001661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001661	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	7	pfam01391	NULL
1277	296439504	Disease	p.Gly425Ser	VAR_001662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001662	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	10	pfam01391	NULL
1277	296439504	Disease	p.Gly434Val	VAR_001663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001663	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	19	pfam01391	NULL
1277	296439504	Disease	p.Gly455Asp	VAR_063309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063309	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	40	pfam01391	NULL
1277	296439504	Disease	p.Gly470Val	VAR_063310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063310	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	55	pfam01391	NULL
1277	296439504	Disease	p.Gly476Arg	VAR_001664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001664	rs57377812 Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	No Domain	N/A	NULL
1277	296439504	Disease	p.Gly509Val	VAR_063311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063311	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	34	pfam01391	NULL
1277	296439504	Disease	p.Gly527Cys	VAR_001665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001665	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	52	pfam01391	NULL
1277	296439504	Disease	p.Gly530Ser	VAR_001666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001666	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	55	pfam01391	NULL
1277	296439504	Disease	p.Gly530Ser	VAR_001666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001666	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	55	pfam01391	NULL
1277	296439504	Disease	p.Gly530Ser	VAR_001666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001666	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	55	pfam01391	NULL
1277	296439504	Disease	p.Gly533Asp	VAR_001667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001667	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	58	pfam01391	NULL
1277	296439504	Disease	p.Gly548Ala	VAR_063312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063312	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	13	pfam01391	NULL
1277	296439504	Disease	p.Pro555Arg	VAR_063313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063313	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	20	pfam01391	NULL
1277	296439504	Disease	p.Gly560Cys	VAR_001669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001669	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	25	pfam01391	NULL
1277	296439504	Disease	p.Gly560Arg	VAR_001670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001670	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	25	pfam01391	NULL
1277	296439504	Disease	p.Gly560Ser	VAR_001668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001668	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	25	pfam01391	NULL
1277	296439504	Disease	p.Gly569Arg	VAR_001672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001672	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	34	pfam01391	NULL
1277	296439504	Disease	p.Gly581Arg	VAR_063315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063315	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	46	pfam01391	NULL
1277	296439504	Disease	p.Gly593Cys	VAR_001673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001673	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	58	pfam01391	NULL
1277	296439504	Disease	p.Gly593Cys	VAR_001673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001673	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	58	pfam01391	NULL
1277	296439504	Disease	p.Gly593Ser	VAR_001674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001674	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	58	pfam01391	NULL
1277	296439504	Disease	p.Gly593Ser	VAR_001674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001674	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	58	pfam01391	NULL
1277	296439504	Disease	p.Gly602Arg	VAR_063316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063316	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	7	pfam01391	NULL
1277	296439504	Disease	p.Gly605Asp	VAR_063317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063317	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	10	pfam01391	NULL
1277	296439504	Disease	p.Gly614Arg	VAR_063318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063318	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	19	pfam01391	NULL
1277	296439504	Disease	p.Gly647Ser	VAR_063319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063319	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	52	pfam01391	NULL
1277	296439504	Disease	p.Gly656Ser	VAR_001676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001676	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	No Domain	N/A	NULL
1277	296439504	Disease	p.Gly683Ser	VAR_063320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063320	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	28	pfam01391	NULL
1277	296439504	Disease	p.Gly701Cys	VAR_001677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001677	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	46	pfam01391	NULL
1277	296439504	Disease	p.Gly704Cys	VAR_001678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001678	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	49	pfam01391	NULL
1277	296439504	Disease	p.Gly719Asp	VAR_001679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001679	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	4	pfam01391	NULL
1277	296439504	Disease	p.Gly719Ser	VAR_001680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001680	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	4	pfam01391	NULL
1277	296439504	Disease	p.Gly722Ser	VAR_063321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063321	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	7	pfam01391	NULL
1277	296439504	Disease	p.Gly728Arg	VAR_001681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001681	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	13	pfam01391	NULL
1277	296439504	Disease	p.Gly734Val	VAR_063322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063322	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	19	pfam01391	NULL
1277	296439504	Disease	p.Gly737Asp	VAR_001682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001682	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	22	pfam01391	NULL
1277	296439504	Disease	p.Gly740Arg	VAR_063323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063323	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	25	pfam01391	NULL
1277	296439504	Disease	p.Gly743Ser	VAR_001683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001683	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	28	pfam01391	NULL
1277	296439504	Disease	p.Gly743Val	VAR_001684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001684	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	28	pfam01391	NULL
1277	296439504	Disease	p.Gly764Val	VAR_001685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001685	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	49	pfam01391	NULL
1277	296439504	Disease	p.Gly767Ser	VAR_001686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001686	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	52	pfam01391	NULL
1277	296439504	Disease	p.Gly776Ser	VAR_001687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001687	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	No Domain	N/A	NULL
1277	296439504	Disease	p.Gly809Ser	VAR_001688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001688	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	31	pfam01391	NULL
1277	296439504	Disease	p.Gly815Val	VAR_001689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001689	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	37	pfam01391	NULL
1277	296439504	Disease	p.Gly821Ser	VAR_001690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001690	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	43	pfam01391	NULL
1277	296439504	Disease	p.Gly824Arg	VAR_063324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063324	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	46	pfam01391	NULL
1277	296439504	Disease	p.Gly833Asp	VAR_063325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063325	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	55	pfam01391	NULL
1277	296439504	Disease	p.Gly839Ser	VAR_001692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001692	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	No Domain	N/A	NULL
1277	296439504	Disease	p.Gly842Arg	VAR_001693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001693	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	4	pfam01391	NULL
1277	296439504	Disease	p.Gly845Arg	VAR_001694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001694	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	7	pfam01391	NULL
1277	296439504	Disease	p.Gly848Arg	VAR_063342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063342	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	10	pfam01391	NULL
1277	296439504	Disease	p.Gly851Asp	VAR_001695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001695	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	13	pfam01391	NULL
1277	296439504	Disease	p.Gly866Ser	VAR_008118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008118	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	28	pfam01391	NULL
1277	296439504	Disease	p.Gly866Ser	VAR_008118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008118	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	28	pfam01391	NULL
1277	296439504	Disease	p.Gly869Cys	VAR_001696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001696	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	31	pfam01391	NULL
1277	296439504	Disease	p.Gly875Ser	VAR_063327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063327	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	37	pfam01391	NULL
1277	296439504	Disease	p.Gly884Ser	VAR_001697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001697	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	46	pfam01391	NULL
1277	296439504	Disease	p.Gly884Ser	VAR_001697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001697	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	46	pfam01391	NULL
1277	296439504	Disease	p.Gly896Cys	VAR_001698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001698	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	58	pfam01391	NULL
1277	296439504	Disease	p.Gly896Asp	VAR_063328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063328	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	58	pfam01391	NULL
1277	296439504	Disease	p.Gly926Cys	VAR_001699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001699	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	28	pfam01391	NULL
1277	296439504	Disease	p.Gly947Cys	VAR_063330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063330	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	49	pfam01391	NULL
1277	296439504	Disease	p.Gly977Asp	VAR_063331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063331	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	19	pfam01391	NULL
1277	296439504	Disease	p.Gly980Val	VAR_001700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001700	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	22	pfam01391	NULL
1277	296439504	Disease	p.Gly1001Cys	VAR_063332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063332	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	43	pfam01391	NULL
1277	296439504	Disease	p.Gly1010Ser	VAR_001701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001701	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	52	pfam01391	NULL
1277	296439504	Disease	p.Arg1014Cys	VAR_033097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033097	- Caffey disease [MIM:114000]	SWISS	56	pfam01391	NULL
1277	296439504	Disease	p.Gly1022Ser	VAR_001702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001702	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	4	pfam01391	NULL
1277	296439504	Disease	p.Gly1022Val	VAR_001703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001703	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	4	pfam01391	NULL
1277	296439504	Disease	p.Gly1025Arg	VAR_001704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001704	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	7	pfam01391	NULL
1277	296439504	Disease	p.Gly1040Ser	VAR_001705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001705	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	22	pfam01391	NULL
1277	296439504	Disease	p.Gly1040Ser	VAR_001705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001705	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	22	pfam01391	NULL
1277	296439504	Disease	p.Gly1043Ser	VAR_001706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001706	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	25	pfam01391	NULL
1277	296439504	Disease	p.Gly1049Ser	VAR_001708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001708	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	31	pfam01391	NULL
1277	296439504	Disease	p.Gly1055Asp	VAR_063334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063334	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	37	pfam01391	NULL
1277	296439504	Disease	p.Gly1058Ser	VAR_001709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001709	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	40	pfam01391	NULL
1277	296439504	Disease	p.Gly1058Ser	VAR_001709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001709	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	40	pfam01391	NULL
1277	296439504	Disease	p.Gly1061Asp	VAR_001710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001710	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	43	pfam01391	NULL
1277	296439504	Disease	p.Gly1061Ser	VAR_001711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001711	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	43	pfam01391	NULL
1277	296439504	Disease	p.Gly1076Ser	VAR_001713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001713	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	58	pfam01391	NULL
1277	296439504	Disease	p.Gly1079Ser	VAR_001714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001714	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	No Domain	N/A	NULL
1277	296439504	Disease	p.Gly1079Ser	VAR_001714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001714	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	No Domain	N/A	NULL
1277	296439504	Disease	p.Gly1082Cys	VAR_001715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001715	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	4	pfam01391	NULL
1277	296439504	Disease	p.Gly1088Ala	VAR_001716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001716	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	10	pfam01391	NULL
1277	296439504	Disease	p.Gly1091Ser	VAR_001717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001717	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	13	pfam01391	NULL
1277	296439504	Disease	p.Gly1094Ser	VAR_063337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063337	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	16	pfam01391	NULL
1277	296439504	Disease	p.Gly1100Asp	VAR_001718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001718	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	22	pfam01391	NULL
1277	296439504	Disease	p.Gly1106Ala	VAR_001719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001719	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	28	pfam01391	NULL
1277	296439504	Disease	p.Gly1124Cys	VAR_001720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001720	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	46	pfam01391	NULL
1277	296439504	Disease	p.Gly1142Ser	VAR_001721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001721	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	4	pfam01391	NULL
1277	296439504	Disease	p.Gly1151Ser	VAR_001722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001722	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	13	pfam01391	NULL
1277	296439504	Disease	p.Gly1151Val	VAR_001723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001723	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	13	pfam01391	NULL
1277	296439504	Disease	p.Gly1154Arg	VAR_001724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001724	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	16	pfam01391	NULL
1277	296439504	Disease	p.Gly1157Asp	VAR_063338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063338	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	19	pfam01391	NULL
1277	296439504	Disease	p.Gly1166Cys	VAR_001725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001725	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	28	pfam01391	NULL
1277	296439504	Disease	p.Gly1172Asp	VAR_001726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001726	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	34	pfam01391	NULL
1277	296439504	Disease	p.Gly1181Ser	VAR_001727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001727	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	43	pfam01391	NULL
1277	296439504	Disease	p.Gly1184Val	VAR_001728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001728	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	46	pfam01391	NULL
1277	296439504	Disease	p.Gly1187Ser	VAR_001729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001729	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	49	pfam01391	NULL
1277	296439504	Disease	p.Gly1187Ser	VAR_001729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001729	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	49	pfam01391	NULL
1277	296439504	Disease	p.Gly1187Val	VAR_001730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001730	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	49	pfam01391	NULL
1277	296439504	Disease	p.Gly1195Cys	VAR_001731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001731	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	58	pfam01391	NULL
1277	296439504	Disease	p.Asp1219Glu	VAR_063339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063339	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	No Domain	N/A	NULL
1277	296439504	Disease	p.Asp1277His	VAR_001732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001732	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	54	smart00038	NULL
1277	296439504	Disease	p.Asp1277His	VAR_001732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001732	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	38	pfam01410	NULL
1277	296439504	Disease	p.Trp1312Cys	VAR_001733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001733	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	95	smart00038	NULL
1277	296439504	Disease	p.Trp1312Cys	VAR_001733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001733	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	80	pfam01410	NULL
1277	296439504	Disease	p.Leu1388Arg	VAR_001735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001735	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	175	smart00038	NULL
1277	296439504	Disease	p.Leu1388Arg	VAR_001735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001735	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	177	pfam01410	NULL
1277	296439504	Disease	p.Asp1413Asn	VAR_063341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063341	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	201	smart00038	NULL
1277	296439504	Disease	p.Asp1413Asn	VAR_063341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063341	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	203	pfam01410	NULL
1277	296439504	Disease	p.Leu1464Pro	VAR_001737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001737	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	No Domain	N/A	NULL
1278	296439507	Disease	p.Gly193Ser	VAR_063343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063343	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	46	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly202Arg	VAR_063344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063344	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	55	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly211Asp	VAR_001852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001852	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	4	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Arg234Cys	VAR_063345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063345	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	27	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly247Arg	VAR_063346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063346	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	40	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly253Asp	VAR_063347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063347	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	46	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly256Val	VAR_063348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063348	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	49	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly283Arg	VAR_063349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063349	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	16	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly319Arg	VAR_063350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063350	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	52	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly325Glu	VAR_063351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063351	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	58	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly328Ser	VAR_001855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001855	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	No Domain	N/A	48762934,NP_000080
1278	296439507	Disease	p.Gly331Asp	VAR_008119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008119	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	4	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly334Cys	VAR_001856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001856	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	7	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly337Cys	VAR_001857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001857	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	10	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly337Ser	VAR_001858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001858	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	10	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly349Cys	VAR_001860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001860	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	22	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly358Ser	VAR_063352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063352	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	31	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly397Glu	VAR_063353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063353	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	10	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly409Val	VAR_001861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001861	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	22	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly433Glu	VAR_001862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001862	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	46	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly454Cys	VAR_063354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063354	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	7	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly457Leu	VAR_063355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063355	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	10	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly460Ser	VAR_001863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001863	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	13	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly511Asp	VAR_001864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001864	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	4	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly517Arg	VAR_001865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001865	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	10	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly526Glu	VAR_063357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063357	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	19	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly547Arg	VAR_001866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001866	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	40	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly562Cys	VAR_001868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001868	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	55	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly562Val	VAR_063358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063358	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	55	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly586Arg	VAR_001869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001869	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	19	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly592Ser	VAR_001870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001870	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	25	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly625Asp	VAR_063360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063360	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	58	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly634Val	VAR_001871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001871	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	7	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly637Asp	VAR_001872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001872	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	10	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly640Ser	VAR_001873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001873	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	13	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly670Asp	VAR_001874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001874	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	43	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly676Asp	VAR_063361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063361	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	49	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly676Val	VAR_001875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001875	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	49	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly676Val	VAR_001875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001875	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	49	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly715Asp	VAR_001877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001877	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	25	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly730Cys	VAR_001878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001878	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	40	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly733Cys	VAR_063363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063363	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	43	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly736Cys	VAR_001879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001879	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	46	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly739Arg	VAR_063364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063364	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	49	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly748Val	VAR_063365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063365	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	58	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly751Ser	VAR_001881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001881	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	No Domain	N/A	48762934,NP_000080
1278	296439507	Disease	p.Gly754Cys	VAR_063366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063366	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	4	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly754Arg	VAR_001882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001882	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	4	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly766Val	VAR_001883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001883	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	16	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly778Ser	VAR_001884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001884	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	28	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly784Arg	VAR_001885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001885	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	34	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly787Cys	VAR_001886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001886	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	37	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly790Asp	VAR_001887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001887	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	40	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly796Ser	VAR_001888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001888	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	46	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly820Ser	VAR_063370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063370	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	10	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly835Cys	VAR_063371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063371	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	25	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly835Ser	VAR_001890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001890	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	25	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly856Arg	VAR_063372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063372	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	46	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly856Val	VAR_063373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063373	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	46	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly877Cys	VAR_001891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001891	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	4	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly892Asp	VAR_001892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001892	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	19	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly892Asp	VAR_001892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001892	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	19	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly895Asp	VAR_001893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001893	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	22	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly949Ser	VAR_001894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001894	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	19	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly955Asp	VAR_063374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063374	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	25	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly955Ser	VAR_001895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001895	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	25	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly973Val	VAR_008120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008120	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	43	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly982Asp	VAR_063375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063375	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	52	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly991Val	VAR_063377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063377	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	No Domain	N/A	48762934,NP_000080
1278	296439507	Disease	p.Gly997Asp	VAR_001896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001896	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	7	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly1003Asp	VAR_063378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063378	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	13	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly1012Ser	VAR_001897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001897	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	22	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly1012Ser	VAR_001897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001897	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	22	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly1027Glu	VAR_063379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063379	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	37	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly1066Asp	VAR_001899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001899	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	16	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly1078Cys	VAR_001900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001900	- Osteogenesis imperfecta type 2A (OI2A) [MIM:166210]	SWISS	28	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly1087Asp	VAR_063381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063381	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	37	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly1096Ala	VAR_001901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001901	- Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	46	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Gly1102Arg	VAR_001902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001902	- Osteogenesis imperfecta type 4 (OI4) [MIM:166220]	SWISS	52	pfam01391	48762934,NP_000080
1278	296439507	Disease	p.Thr1148Pro	VAR_001904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001904	rs1800250 Osteogenesis imperfecta type 3 (OI3) [MIM:259420]	SWISS	20	smart00038	48762934,NP_000080
1278	296439507	Disease	p.Cys1195Tyr	VAR_063383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063383	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	68	smart00038	48762934,NP_000080
1278	296439507	Disease	p.Cys1195Tyr	VAR_063383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063383	- Osteogenesis imperfecta type 1 (OI1) [MIM:166200]	SWISS	53	pfam01410	48762934,NP_000080
1280	124056489	Disease	p.Gly267Asp	VAR_001738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001738	- Wagner syndrome type 2 (WGN2)	SWISS	10	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly303Asp	VAR_001741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001741	- Kniest dysplasia (KD) [MIM:156550]	SWISS	46	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly318Arg	VAR_023925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023925	- Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508]	SWISS	No Domain	N/A	111118976,NP_001835
1280	124056489	Disease	p.Gly375Arg	VAR_001743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001743	- Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	SWISS	58	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly447Ser	VAR_001744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001744	- Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	SWISS	10	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly453Asp	VAR_017639	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017639	- Achondrogenesis type 2 (ACG2) [MIM:200610]	SWISS	16	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly453Val	VAR_017640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017640	- Achondrogenesis type 2 (ACG2) [MIM:200610]	SWISS	16	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly492Val	VAR_001745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001745	- Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [MIM:184250]	SWISS	55	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly504Ser	VAR_001746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001746	- Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [MIM:184250]	SWISS	7	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly510Asp	VAR_001747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001747	- Achondrogenesis type 2 (ACG2) [MIM:200610]	SWISS	13	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly513Ser	VAR_024819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024819	- Achondrogenesis type 2 (ACG2) [MIM:200610]	SWISS	16	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Arg565Cys	VAR_023927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023927	- Stickler syndrome type 1 (STL1) [MIM:108300]	SWISS	8	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Leu667Phe	VAR_023928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023928	- Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508]	SWISS	50	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly717Ser	VAR_023929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023929	- Primary avascular necrosis of femoral head (ANFH) [MIM:608805]	SWISS	40	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly717Val	VAR_024820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024820	- Achondrogenesis type 2 (ACG2) [MIM:200610]	SWISS	40	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Arg719Cys	VAR_001748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001748	- Osteoarthritis with mild chondrodysplasia [MIM:604864]	SWISS	42	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly771Ala	VAR_024821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024821	- Achondrogenesis type 2 (ACG2) [MIM:200610]	SWISS	34	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly771Asp	VAR_017641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017641	- Achondrogenesis type 2 (ACG2) [MIM:200610]	SWISS	34	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly774Ser	VAR_001749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001749	- Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	SWISS	37	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly780Arg	VAR_017642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017642	- Achondrogenesis type 2 (ACG2) [MIM:200610]	SWISS	43	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly795Arg	VAR_017643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017643	- Achondrogenesis type 2 (ACG2) [MIM:200610]	SWISS	58	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly855Ser	VAR_023930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023930	- Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	SWISS	55	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly891Arg	VAR_001752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001752	- Achondrogenesis type 2 (ACG2) [MIM:200610]	SWISS	31	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly891Arg	VAR_001752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001752	- Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	SWISS	31	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly894Glu	VAR_017644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017644	- Achondrogenesis type 2 (ACG2) [MIM:200610]	SWISS	34	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly897Val	VAR_023931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023931	- Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [MIM:184250]	SWISS	37	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Arg904Cys	VAR_017645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017645	- Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD) [MIM:132450]	SWISS	44	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly909Cys	VAR_001753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001753	- Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [MIM:184250]	SWISS	49	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly948Asp	VAR_017646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017646	- Achondrogenesis type 2 (ACG2) [MIM:200610]	SWISS	28	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly969Ser	VAR_001754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001754	- Achondrogenesis type 2 (ACG2) [MIM:200610]	SWISS	49	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly981Ser	VAR_017647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017647	- Achondrogenesis type 2 (ACG2) [MIM:200610]	SWISS	No Domain	N/A	111118976,NP_001835
1280	124056489	Disease	p.Arg989Cys	VAR_001755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001755	- Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	SWISS	9	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Arg992Gly	VAR_023932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023932	- Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [MIM:184250]	SWISS	12	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly1017Val	VAR_001757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001757	- Achondrogenesis type 2 (ACG2) [MIM:200610]	SWISS	37	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly1065Val	VAR_017649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017649	- Achondrogenesis type 2 (ACG2) [MIM:200610]	SWISS	25	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly1110Cys	VAR_001759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001759	- Achondrogenesis type 2 (ACG2) [MIM:200610]	SWISS	10	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly1119Arg	VAR_017650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017650	- Achondrogenesis type 2 (ACG2) [MIM:200610]	SWISS	19	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly1143Ser	VAR_001761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001761	- Achondrogenesis type 2 (ACG2) [MIM:200610]	SWISS	46	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly1170Ser	VAR_023933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023933	- Primary avascular necrosis of femoral head (ANFH) [MIM:608805]	SWISS	13	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly1173Arg	VAR_017651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017651	- Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	SWISS	16	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly1176Ser	VAR_001763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001763	- Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	SWISS	19	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly1188Arg	VAR_001764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001764	- Achondrogenesis type 2 (ACG2) [MIM:200610]	SWISS	31	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Gly1197Ser	VAR_001765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001765	- Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	SWISS	40	pfam01391	111118976,NP_001835
1280	124056489	Disease	p.Thr1390Asn	VAR_024822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024822	- Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]	SWISS	155	pfam01410	111118976,NP_001835
1280	124056489	Disease	p.Thr1390Asn	VAR_024822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024822	- Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]	SWISS	154	smart00038	111118976,NP_001835
1280	124056489	Disease	p.Tyr1391Cys	VAR_023935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023935	- Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]	SWISS	156	pfam01410	111118976,NP_001835
1280	124056489	Disease	p.Tyr1391Cys	VAR_023935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023935	- Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]	SWISS	155	smart00038	111118976,NP_001835
1280	124056489	Disease	p.Thr1439Met	VAR_017105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017105	- Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	SWISS	206	pfam01410	111118976,NP_001835
1280	124056489	Disease	p.Thr1439Met	VAR_017105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017105	- Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	SWISS	204	smart00038	111118976,NP_001835
1280	124056489	Disease	p.Thr1448Pro	VAR_024823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024823	- Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]	SWISS	215	pfam01410	111118976,NP_001835
1280	124056489	Disease	p.Thr1448Pro	VAR_024823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024823	- Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]	SWISS	213	smart00038	111118976,NP_001835
1280	124056489	Disease	p.Asp1469His	VAR_024824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024824	- Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]	SWISS	238	pfam01410	111118976,NP_001835
1280	124056489	Disease	p.Asp1469His	VAR_024824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024824	- Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]	SWISS	234	smart00038	111118976,NP_001835
1280	124056489	Disease	p.Cys1485Gly	VAR_024826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024826	- Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]	SWISS	254	pfam01410	111118976,NP_001835
1280	124056489	Disease	p.Cys1485Gly	VAR_024826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024826	- Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]	SWISS	250	smart00038	111118976,NP_001835
1281	124056490	Disease	p.Leu169Phe	VAR_001767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001767	- Aortic aneurysm abdominal (AAA) [MIM:100070]	SWISS	2	pfam01391	NULL
1281	124056490	Disease	p.Gly183Cys	VAR_001768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001768	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	16	pfam01391	NULL
1281	124056490	Disease	p.Gly183Asp	VAR_011095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011095	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	16	pfam01391	NULL
1281	124056490	Disease	p.Gly183Ser	VAR_011096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011096	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	16	pfam01391	NULL
1281	124056490	Disease	p.Gly192Val	VAR_011097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011097	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	25	pfam01391	NULL
1281	124056490	Disease	p.Gly201Arg	VAR_001769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001769	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	34	pfam01391	NULL
1281	124056490	Disease	p.Gly204Asp	VAR_011098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011098	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	37	pfam01391	NULL
1281	124056490	Disease	p.Gly204Ser	VAR_011099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011099	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	37	pfam01391	NULL
1281	124056490	Disease	p.Gly210Asp	VAR_011100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011100	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	43	pfam01391	NULL
1281	124056490	Disease	p.Gly219Cys	VAR_011101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011101	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	52	pfam01391	NULL
1281	124056490	Disease	p.Gly225Val	VAR_011102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011102	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	58	pfam01391	NULL
1281	124056490	Disease	p.Gly228Glu	VAR_001770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001770	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	No Domain	N/A	NULL
1281	124056490	Disease	p.Gly240Arg	VAR_011103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011103	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	7	pfam01391	NULL
1281	124056490	Disease	p.Gly243Val	VAR_011104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011104	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	10	pfam01391	NULL
1281	124056490	Disease	p.Gly249Asp	VAR_011105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011105	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	16	pfam01391	NULL
1281	124056490	Disease	p.Gly249Val	VAR_011106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011106	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	16	pfam01391	NULL
1281	124056490	Disease	p.Gly252Asp	VAR_011107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011107	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	19	pfam01391	NULL
1281	124056490	Disease	p.Gly252Arg	VAR_011108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011108	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	19	pfam01391	NULL
1281	124056490	Disease	p.Gly252Val	VAR_011109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011109	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	19	pfam01391	NULL
1281	124056490	Disease	p.Gly255Val	VAR_011110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011110	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	22	pfam01391	NULL
1281	124056490	Disease	p.Gly264Arg	VAR_011111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011111	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	31	pfam01391	NULL
1281	124056490	Disease	p.Gly267Val	VAR_011112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011112	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	34	pfam01391	NULL
1281	124056490	Disease	p.Gly297Arg	VAR_037007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037007	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	4	pfam01391	NULL
1281	124056490	Disease	p.Gly321Val	VAR_011113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011113	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	28	pfam01391	NULL
1281	124056490	Disease	p.Gly327Asp	VAR_011114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011114	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	34	pfam01391	NULL
1281	124056490	Disease	p.Gly345Arg	VAR_011115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011115	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	52	pfam01391	NULL
1281	124056490	Disease	p.Gly417Arg	VAR_011116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011116	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	4	pfam01391	NULL
1281	124056490	Disease	p.Gly444Arg	VAR_011117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011117	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	31	pfam01391	NULL
1281	124056490	Disease	p.Gly489Glu	VAR_011118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011118	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	16	pfam01391	NULL
1281	124056490	Disease	p.Gly501Arg	VAR_011119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011119	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	28	pfam01391	NULL
1281	124056490	Disease	p.Gly519Val	VAR_011120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011120	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	46	pfam01391	NULL
1281	124056490	Disease	p.Gly540Arg	VAR_001772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001772	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	7	pfam01391	NULL
1281	124056490	Disease	p.Gly549Glu	VAR_011121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011121	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	16	pfam01391	NULL
1281	124056490	Disease	p.Gly552Glu	VAR_011122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011122	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	19	pfam01391	NULL
1281	124056490	Disease	p.Gly567Glu	VAR_001773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001773	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	34	pfam01391	NULL
1281	124056490	Disease	p.Gly582Ser	VAR_001774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001774	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	49	pfam01391	NULL
1281	124056490	Disease	p.Gly588Asp	VAR_011123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011123	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	55	pfam01391	NULL
1281	124056490	Disease	p.Gly636Arg	VAR_011124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011124	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	43	pfam01391	NULL
1281	124056490	Disease	p.Gly657Glu	VAR_011125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011125	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	4	pfam01391	NULL
1281	124056490	Disease	p.Gly660Asp	VAR_011126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011126	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	7	pfam01391	NULL
1281	124056490	Disease	p.Gly666Asp	VAR_001777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001777	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	13	pfam01391	NULL
1281	124056490	Disease	p.Gly699Arg	VAR_011128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011128	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	46	pfam01391	NULL
1281	124056490	Disease	p.Gly726Arg	VAR_001779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001779	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	13	pfam01391	NULL
1281	124056490	Disease	p.Gly738Ser	VAR_011129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011129	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	25	pfam01391	NULL
1281	124056490	Disease	p.Gly738Val	VAR_011130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011130	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	25	pfam01391	NULL
1281	124056490	Disease	p.Gly744Val	VAR_011131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011131	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	31	pfam01391	NULL
1281	124056490	Disease	p.Gly756Glu	VAR_001780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001780	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	43	pfam01391	NULL
1281	124056490	Disease	p.Gly762Cys	VAR_001781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001781	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	49	pfam01391	NULL
1281	124056490	Disease	p.Gly786Arg	VAR_001782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001782	- Aortic aneurysm abdominal (AAA) [MIM:100070]	SWISS	10	pfam01391	NULL
1281	124056490	Disease	p.Gly804Ser	VAR_001783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001783	- Ehlers-Danlos syndrome type 3 (EDS3) [MIM:130020]	SWISS	28	pfam01391	NULL
1281	124056490	Disease	p.Gly828Arg	VAR_001784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001784	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	52	pfam01391	NULL
1281	124056490	Disease	p.Gly828Trp	VAR_011132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011132	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	52	pfam01391	NULL
1281	124056490	Disease	p.Gly852Cys	VAR_011133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011133	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	16	pfam01391	NULL
1281	124056490	Disease	p.Gly879Val	VAR_011134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011134	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	43	pfam01391	NULL
1281	124056490	Disease	p.Gly882Asp	VAR_011135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011135	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	46	pfam01391	NULL
1281	124056490	Disease	p.Gly900Asp	VAR_011136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011136	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	4	pfam01391	NULL
1281	124056490	Disease	p.Gly903Glu	VAR_011137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011137	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	7	pfam01391	NULL
1281	124056490	Disease	p.Gly909Asp	VAR_001785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001785	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	13	pfam01391	NULL
1281	124056490	Disease	p.Gly909Val	VAR_011138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011138	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	13	pfam01391	NULL
1281	124056490	Disease	p.Gly918Glu	VAR_011139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011139	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	22	pfam01391	NULL
1281	124056490	Disease	p.Gly924Cys	VAR_011140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011140	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	28	pfam01391	NULL
1281	124056490	Disease	p.Gly936Arg	VAR_001786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001786	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	40	pfam01391	NULL
1281	124056490	Disease	p.Gly936Ser	VAR_001787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001787	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	40	pfam01391	NULL
1281	124056490	Disease	p.Gly939Asp	VAR_001788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001788	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	43	pfam01391	NULL
1281	124056490	Disease	p.Gly942Glu	VAR_011141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011141	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	46	pfam01391	NULL
1281	124056490	Disease	p.Gly957Ser	VAR_001789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001789	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	No Domain	N/A	NULL
1281	124056490	Disease	p.Gly960Val	VAR_001790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001790	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	4	pfam01391	NULL
1281	124056490	Disease	p.Gly966Val	VAR_011142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011142	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	10	pfam01391	NULL
1281	124056490	Disease	p.Gly972Ala	VAR_011143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011143	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	16	pfam01391	NULL
1281	124056490	Disease	p.Gly984Thr	VAR_011144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011144	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	28	pfam01391	NULL
1281	124056490	Disease	p.Gly996Glu	VAR_001791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001791	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	40	pfam01391	NULL
1281	124056490	Disease	p.Gly999Arg	VAR_011145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011145	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	43	pfam01391	NULL
1281	124056490	Disease	p.Gly1011Glu	VAR_011146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011146	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	55	pfam01391	NULL
1281	124056490	Disease	p.Gly1014Glu	VAR_001792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001792	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	58	pfam01391	NULL
1281	124056490	Disease	p.Gly1032Val	VAR_011147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011147	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	16	pfam01391	NULL
1281	124056490	Disease	p.Gly1035Cys	VAR_011148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011148	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	19	pfam01391	NULL
1281	124056490	Disease	p.Gly1044Asp	VAR_011149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011149	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	28	pfam01391	NULL
1281	124056490	Disease	p.Gly1050Asp	VAR_001793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001793	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	34	pfam01391	NULL
1281	124056490	Disease	p.Gly1050Val	VAR_011150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011150	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	34	pfam01391	NULL
1281	124056490	Disease	p.Gly1071Val	VAR_001794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001794	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	55	pfam01391	NULL
1281	124056490	Disease	p.Gly1077Val	VAR_001795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001795	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	No Domain	N/A	NULL
1281	124056490	Disease	p.Gly1089Asp	VAR_011151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011151	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	13	pfam01391	NULL
1281	124056490	Disease	p.Gly1098Asp	VAR_011152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011152	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	22	pfam01391	NULL
1281	124056490	Disease	p.Gly1098Val	VAR_011153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011153	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	22	pfam01391	NULL
1281	124056490	Disease	p.Gly1101Glu	VAR_001796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001796	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	25	pfam01391	NULL
1281	124056490	Disease	p.Gly1104Ala	VAR_001797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001797	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	28	pfam01391	NULL
1281	124056490	Disease	p.Gly1161Val	VAR_011154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011154	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	25	pfam01391	NULL
1281	124056490	Disease	p.Gly1164Glu	VAR_011155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011155	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	28	pfam01391	NULL
1281	124056490	Disease	p.Gly1164Arg	VAR_011156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011156	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	28	pfam01391	NULL
1281	124056490	Disease	p.Gly1167Val	VAR_001799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001799	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	31	pfam01391	NULL
1281	124056490	Disease	p.Gly1170Asp	VAR_001800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001800	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	34	pfam01391	NULL
1281	124056490	Disease	p.Gly1170Val	VAR_011157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011157	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	34	pfam01391	NULL
1281	124056490	Disease	p.Gly1173Glu	VAR_001801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001801	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	37	pfam01391	NULL
1281	124056490	Disease	p.Gly1173Arg	VAR_011158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011158	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	37	pfam01391	NULL
1281	124056490	Disease	p.Gly1176Val	VAR_001802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001802	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	40	pfam01391	NULL
1281	124056490	Disease	p.Gly1179Arg	VAR_011159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011159	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	43	pfam01391	NULL
1281	124056490	Disease	p.Gly1182Glu	VAR_001803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001803	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	46	pfam01391	NULL
1281	124056490	Disease	p.Gly1185Asp	VAR_001804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001804	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	49	pfam01391	NULL
1281	124056490	Disease	p.Gly1185Val	VAR_001805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001805	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	49	pfam01391	NULL
1281	124056490	Disease	p.Gly1188Glu	VAR_001806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001806	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	52	pfam01391	NULL
1281	124056490	Disease	p.Gly1188Arg	VAR_001807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001807	- Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]	SWISS	52	pfam01391	NULL
1282	125987809	Disease	p.Gly498Val	VAR_044159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044159	- Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) [MIM:611773]	SWISS	28	pfam01391	148536825,NP_001836
1282	125987809	Disease	p.Gly519Arg	VAR_044160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044160	- Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) [MIM:611773]	SWISS	49	pfam01391	148536825,NP_001836
1282	125987809	Disease	p.Gly528Glu	VAR_044161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044161	- Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) [MIM:611773]	SWISS	58	pfam01391	148536825,NP_001836
1282	125987809	Disease	p.Gly562Glu	VAR_030028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030028	- Brain small vessel disease with hemorrhage [MIM:607595]	SWISS	16	pfam01391	148536825,NP_001836
1282	125987809	Disease	p.Gly749Ser	VAR_030029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030029	- Porencephaly type 1 (T1P) [MIM:175780]	SWISS	10	pfam01391	148536825,NP_001836
1282	125987809	Disease	p.Gly1130Asp	VAR_030030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030030	- Porencephaly type 1 (T1P) [MIM:175780]	SWISS	13	pfam01391	148536825,NP_001836
1282	125987809	Disease	p.Gly1236Arg	VAR_030031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030031	- Porencephaly type 1 (T1P) [MIM:175780]	SWISS	58	pfam01391	148536825,NP_001836
1282	125987809	Disease	p.Gly1423Arg	VAR_030032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030032	- Porencephaly type 1 (T1P) [MIM:175780]	SWISS	58	pfam01391	148536825,NP_001836
1285	134035067	Disease	p.Gly297Glu	VAR_011204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011204	- Alport syndrome autosomal recessive (APSAR) [MIM:203780]	SWISS	25	pfam01391	89142730,NP_000082
1285	134035067	Disease	p.Gly407Arg	VAR_011206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011206	- Alport syndrome autosomal recessive (APSAR) [MIM:203780]	SWISS	55	pfam01391	89142730,NP_000082
1285	134035067	Disease	p.Gly532Asp	VAR_030945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030945	- Alport syndrome autosomal recessive (APSAR) [MIM:203780]	SWISS	43	pfam01391	89142730,NP_000082
1285	134035067	Disease	p.Gly640Arg	VAR_011210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011210	- Alport syndrome autosomal recessive (APSAR) [MIM:203780]	SWISS	22	pfam01391	89142730,NP_000082
1285	134035067	Disease	p.Gly739Arg	VAR_030946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030946	- Alport syndrome autosomal recessive (APSAR) [MIM:203780]	SWISS	58	pfam01391	89142730,NP_000082
1285	134035067	Disease	p.Gly853Arg	VAR_030947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030947	- Alport syndrome autosomal recessive (APSAR) [MIM:203780]	SWISS	49	pfam01391	89142730,NP_000082
1285	134035067	Disease	p.Gly985Val	VAR_030948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030948	- Benign familial hematuria (BFH) [MIM:141200]	SWISS	58	pfam01391	89142730,NP_000082
1285	134035067	Disease	p.Gly1015Glu	VAR_030949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030949	- Benign familial hematuria (BFH) [MIM:141200]	SWISS	28	pfam01391	89142730,NP_000082
1285	134035067	Disease	p.Gly1167Arg	VAR_011211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011211	- Alport syndrome autosomal recessive (APSAR) [MIM:203780]	SWISS	58	pfam01391	89142730,NP_000082
1285	134035067	Disease	p.Gly1207Glu	VAR_011212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011212	- Alport syndrome autosomal recessive (APSAR) [MIM:203780]	SWISS	31	pfam01391	89142730,NP_000082
1285	134035067	Disease	p.Arg1215Gln	VAR_011213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011213	- Alport syndrome autosomal recessive (APSAR) [MIM:203780]	SWISS	39	pfam01391	89142730,NP_000082
1285	134035067	Disease	p.Gly1216Arg	VAR_030950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030950	- Alport syndrome autosomal recessive (APSAR) [MIM:203780]	SWISS	40	pfam01391	89142730,NP_000082
1285	134035067	Disease	p.Gly1277Ser	VAR_011215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011215	- Alport syndrome autosomal recessive (APSAR) [MIM:203780]	SWISS	34	pfam01391	89142730,NP_000082
1285	134035067	Disease	p.Ile1330Thr	VAR_011216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011216	- Alport syndrome autosomal recessive (APSAR) [MIM:203780]	SWISS	18	pfam01391	89142730,NP_000082
1285	134035067	Disease	p.Gly1334Glu	VAR_011217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011217	- Alport syndrome autosomal recessive (APSAR) [MIM:203780]	SWISS	22	pfam01391	89142730,NP_000082
1285	134035067	Disease	p.Asp1347Glu	VAR_011218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011218	- Alport syndrome autosomal recessive (APSAR) [MIM:203780]	SWISS	35	pfam01391	89142730,NP_000082
1285	134035067	Disease	p.Arg1661Cys	VAR_011219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011219	- Alport syndrome autosomal recessive (APSAR) [MIM:203780]	SWISS	112	smart00111	89142730,NP_000082
1285	134035067	Disease	p.Arg1661Cys	VAR_011219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011219	- Alport syndrome autosomal recessive (APSAR) [MIM:203780]	SWISS	111	pfam01413	89142730,NP_000082
1286	259016360	Disease	p.Gly116Glu	VAR_031623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031623	- Benign familial hematuria (BFH) [MIM:141200]	SWISS	55	pfam01391	116256356,NP_000083
1286	259016360	Disease	p.Gly897Glu	VAR_001912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001912	- Benign familial hematuria (BFH) [MIM:141200]	SWISS	28	pfam01391	116256356,NP_000083
1286	259016360	Disease	p.Gly960Arg	VAR_031624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031624	- Benign familial hematuria (BFH) [MIM:141200]	SWISS	28	pfam01391	116256356,NP_000083
1286	259016360	Disease	p.Gly999Glu	VAR_031625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031625	rs13027659 Benign familial hematuria (BFH) [MIM:141200]	SWISS	No Domain	N/A	116256356,NP_000083
1286	259016360	Disease	p.Gly1030Val	VAR_008153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008153	- Alport syndrome autosomal recessive (APSAR) [MIM:203780]	SWISS	31	pfam01391	116256356,NP_000083
1286	259016360	Disease	p.Pro1132Leu	VAR_031626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031626	- Benign familial hematuria (BFH) [MIM:141200]	SWISS	No Domain	N/A	116256356,NP_000083
1286	259016360	Disease	p.Gly1201Ser	VAR_001913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001913	- Alport syndrome autosomal recessive (APSAR) [MIM:203780]	SWISS	4	pfam01391	116256356,NP_000083
1286	259016360	Disease	p.Pro1572Leu	VAR_008155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008155	- Alport syndrome autosomal recessive (APSAR) [MIM:203780]	SWISS	No Domain	N/A	116256356,NP_000083
1287	461675	Disease	p.Gly54Asp	VAR_001914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001914	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	19	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly114Ser	VAR_007991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007991	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	19	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly129Glu	VAR_001915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001915	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	34	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly129Val	VAR_001916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001916	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	34	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly174Arg	VAR_001917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001917	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	13	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly177Cys	VAR_011220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011220	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	16	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly177Arg	VAR_001918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001918	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	16	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly192Arg	VAR_011221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011221	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	31	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly204Val	VAR_011222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011222	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	43	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly216Arg	VAR_001919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001919	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	55	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly219Ser	VAR_001920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001920	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	58	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly230Arg	VAR_011223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011223	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	7	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly239Glu	VAR_011224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011224	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	16	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly264Arg	VAR_011225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011225	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	31	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly289Val	VAR_001921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001921	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	No Domain	N/A	4502955,NP_000486
1287	461675	Disease	p.Gly292Arg	VAR_011226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011226	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	4	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly292Val	VAR_001922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001922	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	4	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly295Asp	VAR_011227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011227	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	7	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly298Ser	VAR_011228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011228	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	10	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly319Arg	VAR_011229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011229	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	31	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly325Glu	VAR_001923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001923	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	37	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly325Arg	VAR_001924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001924	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	37	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly331Val	VAR_007992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007992	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	43	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly365Glu	VAR_001925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001925	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	10	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly371Glu	VAR_001927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001927	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	16	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly374Ala	VAR_001928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001928	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	19	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly383Asp	VAR_001929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001929	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	28	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly400Glu	VAR_001930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001930	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	46	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly406Val	VAR_001931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001931	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	52	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly409Asp	VAR_001932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001932	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	55	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly412Val	VAR_011230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011230	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	58	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly415Arg	VAR_011231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011231	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	No Domain	N/A	4502955,NP_000486
1287	461675	Disease	p.Gly420Glu	VAR_011232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011232	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	No Domain	N/A	4502955,NP_000486
1287	461675	Disease	p.Gly420Val	VAR_011233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011233	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	No Domain	N/A	4502955,NP_000486
1287	461675	Disease	p.Gly423Glu	VAR_011234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011234	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	4	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly466Glu	VAR_001936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001936	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	46	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly472Arg	VAR_007993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007993	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	52	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly491Glu	VAR_011235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011235	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	No Domain	N/A	4502955,NP_000486
1287	461675	Disease	p.Gly494Asp	VAR_001937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001937	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	4	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly497Cys	VAR_011236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011236	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	7	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly521Cys	VAR_001939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001939	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	31	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly521Ser	VAR_001940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001940	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	31	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly524Asp	VAR_011237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011237	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	34	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly545Arg	VAR_007994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007994	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	55	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly545Val	VAR_007995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007995	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	55	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly558Arg	VAR_011238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011238	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	No Domain	N/A	4502955,NP_000486
1287	461675	Disease	p.Gly561Arg	VAR_007996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007996	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	No Domain	N/A	4502955,NP_000486
1287	461675	Disease	p.Gly567Ala	VAR_001941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001941	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	7	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly573Asp	VAR_011239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011239	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	13	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly579Glu	VAR_011240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011240	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	19	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly579Arg	VAR_007997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007997	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	19	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly603Val	VAR_011241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011241	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	40	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly609Arg	VAR_011242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011242	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	46	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly609Val	VAR_001942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001942	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	46	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly621Cys	VAR_011244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011244	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	58	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly624Asp	VAR_011245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011245	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	No Domain	N/A	4502955,NP_000486
1287	461675	Disease	p.Gly629Asp	VAR_011246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011246	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	4	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly632Asp	VAR_011247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011247	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	7	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Glu633Lys	VAR_011248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011248	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	8	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly635Asp	VAR_007998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007998	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	10	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly638Ala	VAR_001944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001944	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	13	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly638Ser	VAR_007999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007999	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	13	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly638Val	VAR_001943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001943	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	13	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly653Arg	VAR_001945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001945	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	28	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly669Ala	VAR_008000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008000	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	40	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly681Asp	VAR_011249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011249	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	52	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly684Val	VAR_001947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001947	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	55	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly687Glu	VAR_008001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008001	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	58	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly722Glu	VAR_011250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011250	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	31	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Pro739Ser	VAR_011252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011252	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	48	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly740Glu	VAR_001948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001948	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	49	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly743Asp	VAR_008002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008002	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	52	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly772Asp	VAR_001949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001949	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	19	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly796Arg	VAR_001950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001950	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	43	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly802Arg	VAR_011253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011253	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	49	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly808Glu	VAR_008003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008003	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	55	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly811Val	VAR_011255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011255	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	58	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly822Arg	VAR_011256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011256	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	4	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly852Glu	VAR_008005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008005	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	34	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly852Arg	VAR_001951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001951	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	34	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly866Glu	VAR_001952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001952	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	46	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly869Arg	VAR_001953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001953	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	49	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly872Arg	VAR_001954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001954	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	52	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly878Arg	VAR_008006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008006	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	58	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Met898Val	VAR_011258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011258	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	12	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly902Val	VAR_011259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011259	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	16	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly911Glu	VAR_011260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011260	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	25	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly941Cys	VAR_011261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011261	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	55	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly947Asp	VAR_011262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011262	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	No Domain	N/A	4502955,NP_000486
1287	461675	Disease	p.Gly953Val	VAR_011263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011263	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	7	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1006Ala	VAR_011264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011264	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	55	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1006Val	VAR_011265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011265	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	55	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1015Glu	VAR_011266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011266	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	7	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1015Val	VAR_011267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011267	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	7	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1030Ser	VAR_011268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011268	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	22	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1036Val	VAR_011269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011269	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	28	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1039Ser	VAR_011270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011270	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	31	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1045Glu	VAR_011271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011271	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	37	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1066Arg	VAR_011272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011272	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	58	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1066Ser	VAR_011273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011273	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	58	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1086Asp	VAR_011274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011274	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	13	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1104Val	VAR_001956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001956	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	31	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1107Arg	VAR_008008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008008	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	34	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1143Asp	VAR_001957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001957	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	10	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1143Ser	VAR_001958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001958	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	10	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1158Arg	VAR_011275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011275	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	25	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1161Arg	VAR_008009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008009	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	28	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1167Ser	VAR_011276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011276	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	34	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1170Ser	VAR_011277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011277	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	37	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1182Arg	VAR_001959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001959	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	49	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1196Arg	VAR_011278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011278	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	4	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1205Cys	VAR_011279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011279	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	13	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1211Glu	VAR_011280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011280	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	19	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1211Arg	VAR_008010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008010	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	19	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1220Asp	VAR_008011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008011	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	28	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1229Asp	VAR_011281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011281	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	37	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1241Cys	VAR_001960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001960	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	49	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1244Asp	VAR_011282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011282	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	52	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1252Ser	VAR_011283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011283	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	58	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1261Glu	VAR_011284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011284	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	7	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1270Ser	VAR_001961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001961	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	16	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1333Ser	VAR_008012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008012	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	13	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1357Ser	VAR_011285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011285	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	37	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1379Val	VAR_001962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001962	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	55	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Arg1410Cys	VAR_001963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001963	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	17	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1421Trp	VAR_001964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001964	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	28	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Arg1422Cys	VAR_001965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001965	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	29	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1427Val	VAR_008013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008013	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	34	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1442Asp	VAR_008014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008014	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	49	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1451Ser	VAR_001966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001966	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	58	pfam01391	4502955,NP_000486
1287	461675	Disease	p.Gly1486Ala	VAR_008015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008015	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	26	pfam01413	4502955,NP_000486
1287	461675	Disease	p.Gly1486Ala	VAR_008015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008015	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	26	smart00111	4502955,NP_000486
1287	461675	Disease	p.Ser1488Phe	VAR_011287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011287	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	28	pfam01413	4502955,NP_000486
1287	461675	Disease	p.Ser1488Phe	VAR_011287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011287	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	28	smart00111	4502955,NP_000486
1287	461675	Disease	p.Ala1498Asp	VAR_001967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001967	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	39	pfam01413	4502955,NP_000486
1287	461675	Disease	p.Ala1498Asp	VAR_001967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001967	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	40	smart00111	4502955,NP_000486
1287	461675	Disease	p.Arg1511His	VAR_011288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011288	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	52	pfam01413	4502955,NP_000486
1287	461675	Disease	p.Arg1511His	VAR_011288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011288	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	53	smart00111	4502955,NP_000486
1287	461675	Disease	p.Pro1517Thr	VAR_001968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001968	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	58	pfam01413	4502955,NP_000486
1287	461675	Disease	p.Pro1517Thr	VAR_001968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001968	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	59	smart00111	4502955,NP_000486
1287	461675	Disease	p.Trp1538Ser	VAR_001969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001969	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	80	pfam01413	4502955,NP_000486
1287	461675	Disease	p.Trp1538Ser	VAR_001969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001969	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	81	smart00111	4502955,NP_000486
1287	461675	Disease	p.Arg1563Gln	VAR_001970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001970	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	111	pfam01413	4502955,NP_000486
1287	461675	Disease	p.Arg1563Gln	VAR_001970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001970	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	112	smart00111	4502955,NP_000486
1287	461675	Disease	p.Cys1564Ser	VAR_001971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001971	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	112	pfam01413	4502955,NP_000486
1287	461675	Disease	p.Cys1564Ser	VAR_001971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001971	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	113	smart00111	4502955,NP_000486
1287	461675	Disease	p.Cys1567Arg	VAR_011289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011289	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	115	pfam01413	4502955,NP_000486
1287	461675	Disease	p.Cys1567Arg	VAR_011289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011289	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	116	smart00111	4502955,NP_000486
1287	461675	Disease	p.Gly1596Asp	VAR_001972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001972	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	26	pfam01413	4502955,NP_000486
1287	461675	Disease	p.Gly1596Asp	VAR_001972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001972	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	26	smart00111	4502955,NP_000486
1287	461675	Disease	p.Leu1649Arg	VAR_001973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001973	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	81	pfam01413	4502955,NP_000486
1287	461675	Disease	p.Leu1649Arg	VAR_001973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001973	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	82	smart00111	4502955,NP_000486
1287	461675	Disease	p.Arg1677Pro	VAR_011290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011290	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	111	pfam01413	4502955,NP_000486
1287	461675	Disease	p.Arg1677Pro	VAR_011290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011290	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	112	smart00111	4502955,NP_000486
1287	461675	Disease	p.Arg1677Gln	VAR_001974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001974	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	111	pfam01413	4502955,NP_000486
1287	461675	Disease	p.Arg1677Gln	VAR_001974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001974	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	112	smart00111	4502955,NP_000486
1287	461675	Disease	p.Cys1678Trp	VAR_011291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011291	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	112	pfam01413	4502955,NP_000486
1287	461675	Disease	p.Cys1678Trp	VAR_011291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011291	- Alport syndrome X-linked (APSX) [MIM:301050]	SWISS	113	smart00111	4502955,NP_000486
1289	85687376	Disease	p.Leu25Pro	VAR_057902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057902	- Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]	SWISS	No Domain	N/A	89276751,NP_000084
1289	85687376	Disease	p.Leu25Pro	VAR_057902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057902	- Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010]	SWISS	No Domain	N/A	89276751,NP_000084
1289	85687376	Disease	p.Leu25Arg	VAR_057903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057903	- Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]	SWISS	No Domain	N/A	89276751,NP_000084
1289	85687376	Disease	p.Leu25Arg	VAR_057903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057903	- Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010]	SWISS	No Domain	N/A	89276751,NP_000084
1289	85687376	Disease	p.Gly530Ser	VAR_015412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015412	rs61735045 Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]	SWISS	52	pfam01391	89276751,NP_000084
1289	85687376	Disease	p.Gly530Ser	VAR_015412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015412	rs61735045 Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010]	SWISS	52	pfam01391	89276751,NP_000084
1289	85687376	Disease	p.Gly1486Cys	VAR_057909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057909	- Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]	SWISS	40	pfam01391	89276751,NP_000084
1289	85687376	Disease	p.Gly1486Cys	VAR_057909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057909	- Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010]	SWISS	40	pfam01391	89276751,NP_000084
1289	85687376	Disease	p.Gly1489Asp	VAR_015413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015413	- Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]	SWISS	43	pfam01391	89276751,NP_000084
1289	85687376	Disease	p.Cys1639Ser	VAR_001808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001808	- Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]	SWISS	16	pfam01410	89276751,NP_000084
1289	85687376	Disease	p.Cys1639Ser	VAR_001808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001808	- Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]	SWISS	36	smart00038	89276751,NP_000084
1290	143811378	Disease	p.Gly963Arg	VAR_013588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013588	- Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010]	SWISS	31	pfam01391	89363017,NP_000384
1291	125987811	Disease	p.Ser116Asn	VAR_058213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058213	rs11553519 Bethlem myopathy (BM) [MIM:158810]	SWISS	223	smart00327	87196339,NP_001839
1291	125987811	Disease	p.Ser116Asn	VAR_058213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058213	rs11553519 Bethlem myopathy (BM) [MIM:158810]	SWISS	156	cd00198	87196339,NP_001839
1291	125987811	Disease	p.Ser116Asn	VAR_058213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058213	rs11553519 Bethlem myopathy (BM) [MIM:158810]	SWISS	92	cd01472	87196339,NP_001839
1291	125987811	Disease	p.Ser116Asn	VAR_058213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058213	rs11553519 Bethlem myopathy (BM) [MIM:158810]	SWISS	111	cd01450	87196339,NP_001839
1291	125987811	Disease	p.Ser116Asn	VAR_058213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058213	rs11553519 Bethlem myopathy (BM) [MIM:158810]	SWISS	94	cd01480	87196339,NP_001839
1291	125987811	Disease	p.Ser116Asn	VAR_058213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058213	rs11553519 Bethlem myopathy (BM) [MIM:158810]	SWISS	101	pfam00092	87196339,NP_001839
1291	125987811	Disease	p.Lys121Arg	VAR_013580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013580	- Bethlem myopathy (BM) [MIM:158810]	SWISS	229	smart00327	87196339,NP_001839
1291	125987811	Disease	p.Lys121Arg	VAR_013580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013580	- Bethlem myopathy (BM) [MIM:158810]	SWISS	161	cd00198	87196339,NP_001839
1291	125987811	Disease	p.Lys121Arg	VAR_013580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013580	- Bethlem myopathy (BM) [MIM:158810]	SWISS	97	cd01472	87196339,NP_001839
1291	125987811	Disease	p.Lys121Arg	VAR_013580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013580	- Bethlem myopathy (BM) [MIM:158810]	SWISS	120	cd01450	87196339,NP_001839
1291	125987811	Disease	p.Lys121Arg	VAR_013580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013580	- Bethlem myopathy (BM) [MIM:158810]	SWISS	99	cd01480	87196339,NP_001839
1291	125987811	Disease	p.Lys121Arg	VAR_013580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013580	- Bethlem myopathy (BM) [MIM:158810]	SWISS	116	pfam00092	87196339,NP_001839
1291	125987811	Disease	p.Gly272Asp	VAR_058214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058214	- Bethlem myopathy (BM) [MIM:158810]	SWISS	16	pfam01391	87196339,NP_001839
1291	125987811	Disease	p.Pro274Leu	VAR_058215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058215	- Bethlem myopathy (BM) [MIM:158810]	SWISS	18	pfam01391	87196339,NP_001839
1291	125987811	Disease	p.Gly275Arg	VAR_058216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058216	- Bethlem myopathy (BM) [MIM:158810]	SWISS	19	pfam01391	87196339,NP_001839
1291	125987811	Disease	p.Gly281Arg	VAR_058217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058217	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	25	pfam01391	87196339,NP_001839
1291	125987811	Disease	p.Gly284Arg	VAR_058218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058218	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	28	pfam01391	87196339,NP_001839
1291	125987811	Disease	p.Gly290Arg	VAR_058219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058219	- Bethlem myopathy (BM) [MIM:158810]	SWISS	34	pfam01391	87196339,NP_001839
1291	125987811	Disease	p.Gly290Arg	VAR_058219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058219	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	34	pfam01391	87196339,NP_001839
1291	125987811	Disease	p.Gly305Val	VAR_013581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013581	- Bethlem myopathy (BM) [MIM:158810]	SWISS	49	pfam01391	87196339,NP_001839
1291	125987811	Disease	p.Gly341Asp	VAR_013582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013582	- Bethlem myopathy (BM) [MIM:158810]	SWISS	10	pfam01391	87196339,NP_001839
1291	125987811	Disease	p.Gly341Val	VAR_058221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058221	- Bethlem myopathy (BM) [MIM:158810]	SWISS	10	pfam01391	87196339,NP_001839
1291	125987811	Disease	p.Lys571Thr	VAR_058222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058222	- Bethlem myopathy (BM) [MIM:158810]	SWISS	39	pfam01391	87196339,NP_001839
1292	125987812	Disease	p.Glu106Lys	VAR_058225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058225	- Bethlem myopathy (BM) [MIM:158810]	SWISS	69	pfam00092	115527062,NP_001840
1292	125987812	Disease	p.Glu106Lys	VAR_058225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058225	- Bethlem myopathy (BM) [MIM:158810]	SWISS	163	smart00327	115527062,NP_001840
1292	125987812	Disease	p.Glu106Lys	VAR_058225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058225	- Bethlem myopathy (BM) [MIM:158810]	SWISS	60	cd01467	115527062,NP_001840
1292	125987812	Disease	p.Glu106Lys	VAR_058225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058225	- Bethlem myopathy (BM) [MIM:158810]	SWISS	86	cd00198	115527062,NP_001840
1292	125987812	Disease	p.Glu106Lys	VAR_058225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058225	- Bethlem myopathy (BM) [MIM:158810]	SWISS	72	cd01472	115527062,NP_001840
1292	125987812	Disease	p.Glu106Lys	VAR_058225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058225	- Bethlem myopathy (BM) [MIM:158810]	SWISS	86	cd01450	115527062,NP_001840
1292	125987812	Disease	p.Glu106Lys	VAR_058225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058225	- Bethlem myopathy (BM) [MIM:158810]	SWISS	74	cd01480	115527062,NP_001840
1292	125987812	Disease	p.Gly271Ser	VAR_013589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013589	- Bethlem myopathy (BM) [MIM:158810]	SWISS	13	pfam01391	115527062,NP_001840
1292	125987812	Disease	p.Gly283Arg	VAR_058226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058226	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	25	pfam01391	115527062,NP_001840
1292	125987812	Disease	p.Arg498His	VAR_058228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058228	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	33	pfam01391	115527062,NP_001840
1292	125987812	Disease	p.Gly531Arg	VAR_058230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058230	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	No Domain	N/A	115527062,NP_001840
1292	125987812	Disease	p.Asp621Asn	VAR_013590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013590	- Bethlem myopathy (BM) [MIM:158810]	SWISS	10	smart00327	115527062,NP_001840
1292	125987812	Disease	p.Asp621Asn	VAR_013590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013590	- Bethlem myopathy (BM) [MIM:158810]	SWISS	10	cd01480	115527062,NP_001840
1292	125987812	Disease	p.Asp621Asn	VAR_013590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013590	- Bethlem myopathy (BM) [MIM:158810]	SWISS	10	cd01475	115527062,NP_001840
1292	125987812	Disease	p.Asp621Asn	VAR_013590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013590	- Bethlem myopathy (BM) [MIM:158810]	SWISS	8	cd01482	115527062,NP_001840
1292	125987812	Disease	p.Asp621Asn	VAR_013590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013590	- Bethlem myopathy (BM) [MIM:158810]	SWISS	7	pfam00092	115527062,NP_001840
1292	125987812	Disease	p.Asp621Asn	VAR_013590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013590	- Bethlem myopathy (BM) [MIM:158810]	SWISS	8	cd01481	115527062,NP_001840
1292	125987812	Disease	p.Asp621Asn	VAR_013590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013590	- Bethlem myopathy (BM) [MIM:158810]	SWISS	8	cd01469	115527062,NP_001840
1292	125987812	Disease	p.Asp621Asn	VAR_013590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013590	- Bethlem myopathy (BM) [MIM:158810]	SWISS	8	cd01476	115527062,NP_001840
1292	125987812	Disease	p.Asp621Asn	VAR_013590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013590	- Bethlem myopathy (BM) [MIM:158810]	SWISS	8	cd01450	115527062,NP_001840
1292	125987812	Disease	p.Asp621Asn	VAR_013590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013590	- Bethlem myopathy (BM) [MIM:158810]	SWISS	8	cd01472	115527062,NP_001840
1292	125987812	Disease	p.Asp621Asn	VAR_013590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013590	- Bethlem myopathy (BM) [MIM:158810]	SWISS	8	cd01470	115527062,NP_001840
1292	125987812	Disease	p.Asp621Asn	VAR_013590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013590	- Bethlem myopathy (BM) [MIM:158810]	SWISS	8	cd00198	115527062,NP_001840
1292	125987812	Disease	p.Asp621Asn	VAR_013590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013590	- Bethlem myopathy (BM) [MIM:158810]	SWISS	8	cd01471	115527062,NP_001840
1292	125987812	Disease	p.Asp621Asn	VAR_013590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013590	- Bethlem myopathy (BM) [MIM:158810]	SWISS	27	cd01477	115527062,NP_001840
1292	125987812	Disease	p.Gly700Ser	VAR_058231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058231	- Bethlem myopathy (BM) [MIM:158810]	SWISS	279	smart00327	115527062,NP_001840
1292	125987812	Disease	p.Gly700Ser	VAR_058231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058231	- Bethlem myopathy (BM) [MIM:158810]	SWISS	104	cd01480	115527062,NP_001840
1292	125987812	Disease	p.Gly700Ser	VAR_058231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058231	- Bethlem myopathy (BM) [MIM:158810]	SWISS	80	cd01475	115527062,NP_001840
1292	125987812	Disease	p.Gly700Ser	VAR_058231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058231	- Bethlem myopathy (BM) [MIM:158810]	SWISS	81	cd01482	115527062,NP_001840
1292	125987812	Disease	p.Gly700Ser	VAR_058231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058231	- Bethlem myopathy (BM) [MIM:158810]	SWISS	121	pfam00092	115527062,NP_001840
1292	125987812	Disease	p.Gly700Ser	VAR_058231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058231	- Bethlem myopathy (BM) [MIM:158810]	SWISS	77	cd01481	115527062,NP_001840
1292	125987812	Disease	p.Gly700Ser	VAR_058231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058231	- Bethlem myopathy (BM) [MIM:158810]	SWISS	78	cd01469	115527062,NP_001840
1292	125987812	Disease	p.Gly700Ser	VAR_058231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058231	- Bethlem myopathy (BM) [MIM:158810]	SWISS	84	cd01476	115527062,NP_001840
1292	125987812	Disease	p.Gly700Ser	VAR_058231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058231	- Bethlem myopathy (BM) [MIM:158810]	SWISS	139	cd01450	115527062,NP_001840
1292	125987812	Disease	p.Gly700Ser	VAR_058231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058231	- Bethlem myopathy (BM) [MIM:158810]	SWISS	103	cd01472	115527062,NP_001840
1292	125987812	Disease	p.Gly700Ser	VAR_058231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058231	- Bethlem myopathy (BM) [MIM:158810]	SWISS	88	cd01470	115527062,NP_001840
1292	125987812	Disease	p.Gly700Ser	VAR_058231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058231	- Bethlem myopathy (BM) [MIM:158810]	SWISS	178	cd00198	115527062,NP_001840
1292	125987812	Disease	p.Gly700Ser	VAR_058231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058231	- Bethlem myopathy (BM) [MIM:158810]	SWISS	84	cd01471	115527062,NP_001840
1292	125987812	Disease	p.Gly700Ser	VAR_058231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058231	- Bethlem myopathy (BM) [MIM:158810]	SWISS	116	cd01477	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	VAR_058233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058233	- Bethlem myopathy (BM) [MIM:158810]	SWISS	630	smart00327	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	VAR_058233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058233	- Bethlem myopathy (BM) [MIM:158810]	SWISS	201	cd01480	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	VAR_058233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058233	- Bethlem myopathy (BM) [MIM:158810]	SWISS	156	cd01475	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	VAR_058233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058233	- Bethlem myopathy (BM) [MIM:158810]	SWISS	157_G	cd01482	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	VAR_058233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058233	- Bethlem myopathy (BM) [MIM:158810]	SWISS	254	pfam00092	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	VAR_058233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058233	- Bethlem myopathy (BM) [MIM:158810]	SWISS	154	cd01481	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	VAR_058233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058233	- Bethlem myopathy (BM) [MIM:158810]	SWISS	165	cd01469	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	VAR_058233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058233	- Bethlem myopathy (BM) [MIM:158810]	SWISS	169	cd01476	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	VAR_058233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058233	- Bethlem myopathy (BM) [MIM:158810]	SWISS	267	cd01450	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	VAR_058233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058233	- Bethlem myopathy (BM) [MIM:158810]	SWISS	200	cd01472	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	VAR_058233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058233	- Bethlem myopathy (BM) [MIM:158810]	SWISS	192	cd01470	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	VAR_058233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058233	- Bethlem myopathy (BM) [MIM:158810]	SWISS	333	cd00198	115527062,NP_001840
1292	125987812	Disease	p.Cys777Arg	VAR_058233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058233	- Bethlem myopathy (BM) [MIM:158810]	SWISS	177_G	cd01471	115527062,NP_001840
1292	125987812	Disease	p.Arg784His	VAR_058234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058234	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	647	smart00327	115527062,NP_001840
1292	125987812	Disease	p.Arg784His	VAR_058234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058234	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	215	cd01480	115527062,NP_001840
1292	125987812	Disease	p.Arg784His	VAR_058234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058234	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	164	cd01475	115527062,NP_001840
1292	125987812	Disease	p.Arg784His	VAR_058234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058234	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	164	cd01482	115527062,NP_001840
1292	125987812	Disease	p.Arg784His	VAR_058234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058234	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	263	pfam00092	115527062,NP_001840
1292	125987812	Disease	p.Arg784His	VAR_058234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058234	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	160	cd01481	115527062,NP_001840
1292	125987812	Disease	p.Arg784His	VAR_058234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058234	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	173	cd01469	115527062,NP_001840
1292	125987812	Disease	p.Arg784His	VAR_058234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058234	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	176	cd01476	115527062,NP_001840
1292	125987812	Disease	p.Arg784His	VAR_058234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058234	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	286	cd01450	115527062,NP_001840
1292	125987812	Disease	p.Arg784His	VAR_058234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058234	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	214	cd01472	115527062,NP_001840
1292	125987812	Disease	p.Arg784His	VAR_058234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058234	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	207	cd01470	115527062,NP_001840
1292	125987812	Disease	p.Arg784His	VAR_058234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058234	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	183	cd01471	115527062,NP_001840
1292	125987812	Disease	p.Leu837Pro	VAR_058236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058236	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	5	pfam00092	115527062,NP_001840
1292	125987812	Disease	p.Leu837Pro	VAR_058236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058236	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	227	cd01475	115527062,NP_001840
1292	125987812	Disease	p.Leu837Pro	VAR_058236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058236	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	8	smart00327	115527062,NP_001840
1292	125987812	Disease	p.Leu837Pro	VAR_058236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058236	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	8	cd01480	115527062,NP_001840
1292	125987812	Disease	p.Leu837Pro	VAR_058236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058236	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	6	cd01472	115527062,NP_001840
1292	125987812	Disease	p.Leu837Pro	VAR_058236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058236	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	6	cd01450	115527062,NP_001840
1292	125987812	Disease	p.Leu837Pro	VAR_058236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058236	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	6	cd00198	115527062,NP_001840
1292	125987812	Disease	p.Arg853Gln	VAR_058237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058237	- Bethlem myopathy (BM) [MIM:158810]	SWISS	32	pfam00092	115527062,NP_001840
1292	125987812	Disease	p.Arg853Gln	VAR_058237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058237	- Bethlem myopathy (BM) [MIM:158810]	SWISS	70	smart00327	115527062,NP_001840
1292	125987812	Disease	p.Arg853Gln	VAR_058237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058237	- Bethlem myopathy (BM) [MIM:158810]	SWISS	30	cd01480	115527062,NP_001840
1292	125987812	Disease	p.Arg853Gln	VAR_058237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058237	- Bethlem myopathy (BM) [MIM:158810]	SWISS	28	cd01472	115527062,NP_001840
1292	125987812	Disease	p.Arg853Gln	VAR_058237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058237	- Bethlem myopathy (BM) [MIM:158810]	SWISS	30	cd01450	115527062,NP_001840
1292	125987812	Disease	p.Arg853Gln	VAR_058237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058237	- Bethlem myopathy (BM) [MIM:158810]	SWISS	33	cd00198	115527062,NP_001840
1292	125987812	Disease	p.Arg876Ser	VAR_058238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058238	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	58	pfam00092	115527062,NP_001840
1292	125987812	Disease	p.Arg876Ser	VAR_058238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058238	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	128	smart00327	115527062,NP_001840
1292	125987812	Disease	p.Arg876Ser	VAR_058238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058238	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	61	cd01480	115527062,NP_001840
1292	125987812	Disease	p.Arg876Ser	VAR_058238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058238	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	59	cd01472	115527062,NP_001840
1292	125987812	Disease	p.Arg876Ser	VAR_058238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058238	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	65	cd01450	115527062,NP_001840
1292	125987812	Disease	p.Arg876Ser	VAR_058238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058238	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	64	cd00198	115527062,NP_001840
1292	125987812	Disease	p.Pro932Leu	VAR_058241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058241	- Bethlem myopathy (BM) [MIM:158810]	SWISS	148	pfam00092	115527062,NP_001840
1292	125987812	Disease	p.Pro932Leu	VAR_058241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058241	- Bethlem myopathy (BM) [MIM:158810]	SWISS	318	smart00327	115527062,NP_001840
1292	125987812	Disease	p.Pro932Leu	VAR_058241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058241	- Bethlem myopathy (BM) [MIM:158810]	SWISS	137	cd01480	115527062,NP_001840
1292	125987812	Disease	p.Pro932Leu	VAR_058241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058241	- Bethlem myopathy (BM) [MIM:158810]	SWISS	136	cd01472	115527062,NP_001840
1292	125987812	Disease	p.Pro932Leu	VAR_058241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058241	- Bethlem myopathy (BM) [MIM:158810]	SWISS	157	cd01450	115527062,NP_001840
1292	125987812	Disease	p.Pro932Leu	VAR_058241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058241	- Bethlem myopathy (BM) [MIM:158810]	SWISS	196	cd00198	115527062,NP_001840
1293	311033499	Disease	p.Arg677His	VAR_058245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058245	rs35227432 Bethlem myopathy (BM) [MIM:158810]	SWISS	40	cd01481	55743098,NP_004360
1293	311033499	Disease	p.Arg677His	VAR_058245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058245	rs35227432 Bethlem myopathy (BM) [MIM:158810]	SWISS	59	cd01472	55743098,NP_004360
1293	311033499	Disease	p.Arg677His	VAR_058245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058245	rs35227432 Bethlem myopathy (BM) [MIM:158810]	SWISS	40	cd01469	55743098,NP_004360
1293	311033499	Disease	p.Arg677His	VAR_058245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058245	rs35227432 Bethlem myopathy (BM) [MIM:158810]	SWISS	64	cd00198	55743098,NP_004360
1293	311033499	Disease	p.Arg677His	VAR_058245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058245	rs35227432 Bethlem myopathy (BM) [MIM:158810]	SWISS	40	cd01476	55743098,NP_004360
1293	311033499	Disease	p.Arg677His	VAR_058245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058245	rs35227432 Bethlem myopathy (BM) [MIM:158810]	SWISS	65	cd01450	55743098,NP_004360
1293	311033499	Disease	p.Arg677His	VAR_058245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058245	rs35227432 Bethlem myopathy (BM) [MIM:158810]	SWISS	128	smart00327	55743098,NP_004360
1293	311033499	Disease	p.Arg677His	VAR_058245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058245	rs35227432 Bethlem myopathy (BM) [MIM:158810]	SWISS	43	cd01482	55743098,NP_004360
1293	311033499	Disease	p.Arg677His	VAR_058245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058245	rs35227432 Bethlem myopathy (BM) [MIM:158810]	SWISS	41	cd01473	55743098,NP_004360
1293	311033499	Disease	p.Arg677His	VAR_058245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058245	rs35227432 Bethlem myopathy (BM) [MIM:158810]	SWISS	41	cd01471	55743098,NP_004360
1293	311033499	Disease	p.Arg677His	VAR_058245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058245	rs35227432 Bethlem myopathy (BM) [MIM:158810]	SWISS	58	pfam00092	55743098,NP_004360
1293	311033499	Disease	p.Arg677His	VAR_058245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058245	rs35227432 Bethlem myopathy (BM) [MIM:158810]	SWISS	42	cd01475	55743098,NP_004360
1293	311033499	Disease	p.Arg677His	VAR_058245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058245	rs35227432 Bethlem myopathy (BM) [MIM:158810]	SWISS	61	cd01480	55743098,NP_004360
1293	311033499	Disease	p.Lys1014Glu	VAR_058248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058248	- Bethlem myopathy (BM) [MIM:158810]	SWISS	No Domain	N/A	55743098,NP_004360
1293	311033499	Disease	p.Arg1064Gln	VAR_058249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058249	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	38	cd01476	55743098,NP_004360
1293	311033499	Disease	p.Arg1064Gln	VAR_058249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058249	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	38	cd01481	55743098,NP_004360
1293	311033499	Disease	p.Arg1064Gln	VAR_058249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058249	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	57	cd01472	55743098,NP_004360
1293	311033499	Disease	p.Arg1064Gln	VAR_058249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058249	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	38	cd01469	55743098,NP_004360
1293	311033499	Disease	p.Arg1064Gln	VAR_058249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058249	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	62	cd00198	55743098,NP_004360
1293	311033499	Disease	p.Arg1064Gln	VAR_058249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058249	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	63	cd01450	55743098,NP_004360
1293	311033499	Disease	p.Arg1064Gln	VAR_058249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058249	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	40	cd01475	55743098,NP_004360
1293	311033499	Disease	p.Arg1064Gln	VAR_058249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058249	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	120	smart00327	55743098,NP_004360
1293	311033499	Disease	p.Arg1064Gln	VAR_058249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058249	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	41	cd01482	55743098,NP_004360
1293	311033499	Disease	p.Arg1064Gln	VAR_058249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058249	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	56	pfam00092	55743098,NP_004360
1293	311033499	Disease	p.Arg1064Gln	VAR_058249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058249	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	59	cd01480	55743098,NP_004360
1293	311033499	Disease	p.Glu1386Lys	VAR_058250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058250	- Bethlem myopathy (BM) [MIM:158810]	SWISS	633	smart00327	55743098,NP_004360
1293	311033499	Disease	p.Glu1386Lys	VAR_058250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058250	- Bethlem myopathy (BM) [MIM:158810]	SWISS	171	cd01474	55743098,NP_004360
1293	311033499	Disease	p.Glu1386Lys	VAR_058250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058250	- Bethlem myopathy (BM) [MIM:158810]	SWISS	157	cd01481	55743098,NP_004360
1293	311033499	Disease	p.Glu1386Lys	VAR_058250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058250	- Bethlem myopathy (BM) [MIM:158810]	SWISS	214	cd01472	55743098,NP_004360
1293	311033499	Disease	p.Glu1386Lys	VAR_058250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058250	- Bethlem myopathy (BM) [MIM:158810]	SWISS	349	cd00198	55743098,NP_004360
1293	311033499	Disease	p.Glu1386Lys	VAR_058250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058250	- Bethlem myopathy (BM) [MIM:158810]	SWISS	172	cd01476	55743098,NP_004360
1293	311033499	Disease	p.Glu1386Lys	VAR_058250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058250	- Bethlem myopathy (BM) [MIM:158810]	SWISS	170	cd01469	55743098,NP_004360
1293	311033499	Disease	p.Glu1386Lys	VAR_058250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058250	- Bethlem myopathy (BM) [MIM:158810]	SWISS	283	cd01450	55743098,NP_004360
1293	311033499	Disease	p.Glu1386Lys	VAR_058250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058250	- Bethlem myopathy (BM) [MIM:158810]	SWISS	204	cd01480	55743098,NP_004360
1293	311033499	Disease	p.Glu1386Lys	VAR_058250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058250	- Bethlem myopathy (BM) [MIM:158810]	SWISS	161	cd01482	55743098,NP_004360
1293	311033499	Disease	p.Glu1386Lys	VAR_058250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058250	- Bethlem myopathy (BM) [MIM:158810]	SWISS	260	pfam00092	55743098,NP_004360
1293	311033499	Disease	p.Arg1395Gln	VAR_058251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058251	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	655	smart00327	55743098,NP_004360
1293	311033499	Disease	p.Arg1395Gln	VAR_058251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058251	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	181	cd01474	55743098,NP_004360
1293	311033499	Disease	p.Arg1395Gln	VAR_058251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058251	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	179	cd01469	55743098,NP_004360
1293	311033499	Disease	p.Arg1395Gln	VAR_058251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058251	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	224	cd01480	55743098,NP_004360
1293	311033499	Disease	p.Arg1395Gln	VAR_058251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058251	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	269	pfam00092	55743098,NP_004360
1293	311033499	Disease	p.Asn1467Asp	VAR_058252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058252	- Bethlem myopathy (BM) [MIM:158810]	SWISS	87	smart00327	55743098,NP_004360
1293	311033499	Disease	p.Asn1467Asp	VAR_058252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058252	- Bethlem myopathy (BM) [MIM:158810]	SWISS	35	cd01475	55743098,NP_004360
1293	311033499	Disease	p.Asn1467Asp	VAR_058252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058252	- Bethlem myopathy (BM) [MIM:158810]	SWISS	45	cd01450	55743098,NP_004360
1293	311033499	Disease	p.Asn1467Asp	VAR_058252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058252	- Bethlem myopathy (BM) [MIM:158810]	SWISS	44	cd00198	55743098,NP_004360
1293	311033499	Disease	p.Asn1467Asp	VAR_058252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058252	- Bethlem myopathy (BM) [MIM:158810]	SWISS	32	cd01476	55743098,NP_004360
1293	311033499	Disease	p.Asn1467Asp	VAR_058252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058252	- Bethlem myopathy (BM) [MIM:158810]	SWISS	33	cd01469	55743098,NP_004360
1293	311033499	Disease	p.Asn1467Asp	VAR_058252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058252	- Bethlem myopathy (BM) [MIM:158810]	SWISS	39	cd01472	55743098,NP_004360
1293	311033499	Disease	p.Asn1467Asp	VAR_058252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058252	- Bethlem myopathy (BM) [MIM:158810]	SWISS	33	cd01481	55743098,NP_004360
1293	311033499	Disease	p.Asn1467Asp	VAR_058252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058252	- Bethlem myopathy (BM) [MIM:158810]	SWISS	36	cd01482	55743098,NP_004360
1293	311033499	Disease	p.Asn1467Asp	VAR_058252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058252	- Bethlem myopathy (BM) [MIM:158810]	SWISS	44	pfam00092	55743098,NP_004360
1293	311033499	Disease	p.Asp1674Asn	VAR_058255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058255	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	119	smart00327	55743098,NP_004360
1293	311033499	Disease	p.Asp1674Asn	VAR_058255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058255	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	55	pfam00092	55743098,NP_004360
1293	311033499	Disease	p.Asp1674Asn	VAR_058255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058255	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	37	cd01481	55743098,NP_004360
1293	311033499	Disease	p.Asp1674Asn	VAR_058255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058255	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	40	cd01482	55743098,NP_004360
1293	311033499	Disease	p.Asp1674Asn	VAR_058255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058255	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	56	cd01472	55743098,NP_004360
1293	311033499	Disease	p.Asp1674Asn	VAR_058255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058255	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	37	cd01469	55743098,NP_004360
1293	311033499	Disease	p.Asp1674Asn	VAR_058255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058255	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	62	cd01450	55743098,NP_004360
1293	311033499	Disease	p.Asp1674Asn	VAR_058255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058255	- Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]	SWISS	61	cd00198	55743098,NP_004360
1293	311033499	Disease	p.Gly1679Glu	VAR_001910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001910	- Bethlem myopathy (BM) [MIM:158810]	SWISS	130	smart00327	55743098,NP_004360
1293	311033499	Disease	p.Gly1679Glu	VAR_001910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001910	- Bethlem myopathy (BM) [MIM:158810]	SWISS	60	pfam00092	55743098,NP_004360
1293	311033499	Disease	p.Gly1679Glu	VAR_001910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001910	- Bethlem myopathy (BM) [MIM:158810]	SWISS	42	cd01481	55743098,NP_004360
1293	311033499	Disease	p.Gly1679Glu	VAR_001910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001910	- Bethlem myopathy (BM) [MIM:158810]	SWISS	45	cd01482	55743098,NP_004360
1293	311033499	Disease	p.Gly1679Glu	VAR_001910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001910	- Bethlem myopathy (BM) [MIM:158810]	SWISS	61	cd01472	55743098,NP_004360
1293	311033499	Disease	p.Gly1679Glu	VAR_001910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001910	- Bethlem myopathy (BM) [MIM:158810]	SWISS	42	cd01469	55743098,NP_004360
1293	311033499	Disease	p.Gly1679Glu	VAR_001910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001910	- Bethlem myopathy (BM) [MIM:158810]	SWISS	67	cd01450	55743098,NP_004360
1293	311033499	Disease	p.Gly1679Glu	VAR_001910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001910	- Bethlem myopathy (BM) [MIM:158810]	SWISS	66	cd00198	55743098,NP_004360
1293	311033499	Disease	p.Leu1726Arg	VAR_058257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058257	- Bethlem myopathy (BM) [MIM:158810]	SWISS	292	smart00327	55743098,NP_004360
1293	311033499	Disease	p.Leu1726Arg	VAR_058257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058257	- Bethlem myopathy (BM) [MIM:158810]	SWISS	133	pfam00092	55743098,NP_004360
1293	311033499	Disease	p.Leu1726Arg	VAR_058257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058257	- Bethlem myopathy (BM) [MIM:158810]	SWISS	89	cd01481	55743098,NP_004360
1293	311033499	Disease	p.Leu1726Arg	VAR_058257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058257	- Bethlem myopathy (BM) [MIM:158810]	SWISS	91	cd01482	55743098,NP_004360
1293	311033499	Disease	p.Leu1726Arg	VAR_058257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058257	- Bethlem myopathy (BM) [MIM:158810]	SWISS	113	cd01472	55743098,NP_004360
1293	311033499	Disease	p.Leu1726Arg	VAR_058257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058257	- Bethlem myopathy (BM) [MIM:158810]	SWISS	89	cd01469	55743098,NP_004360
1293	311033499	Disease	p.Leu1726Arg	VAR_058257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058257	- Bethlem myopathy (BM) [MIM:158810]	SWISS	149	cd01450	55743098,NP_004360
1293	311033499	Disease	p.Leu1726Arg	VAR_058257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058257	- Bethlem myopathy (BM) [MIM:158810]	SWISS	188	cd00198	55743098,NP_004360
1293	311033499	Disease	p.Val1985Met	VAR_058258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058258	- Bethlem myopathy (BM) [MIM:158810]	SWISS	565	smart00327	55743098,NP_004360
1293	311033499	Disease	p.Gly2047Asp	VAR_058259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058259	- Bethlem myopathy (BM) [MIM:158810]	SWISS	10	pfam01391	55743098,NP_004360
1293	311033499	Disease	p.Gly2056Arg	VAR_058260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058260	- Bethlem myopathy (BM) [MIM:158810]	SWISS	19	pfam01391	55743098,NP_004360
1293	311033499	Disease	p.Gly2080Asp	VAR_058261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058261	- Bethlem myopathy (BM) [MIM:158810]	SWISS	43	pfam01391	55743098,NP_004360
1293	311033499	Disease	p.Ala2941Val	VAR_058264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058264	rs11903206 Bethlem myopathy (BM) [MIM:158810]	SWISS	No Domain	N/A	55743098,NP_004360
1294	1345650	Disease	p.Lys142Arg	VAR_001809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001809	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	117	cd01474	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	VAR_001809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001809	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	143	cd01480	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	VAR_001809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001809	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	110	cd01475	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	VAR_001809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001809	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	382	smart00327	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	VAR_001809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001809	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	161	pfam00092	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	VAR_001809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001809	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	178	cd01450	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	VAR_001809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001809	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	108	cd01481	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	VAR_001809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001809	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	111	cd01482	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	VAR_001809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001809	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	142	cd01472	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	VAR_001809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001809	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	106	cd01469	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	VAR_001809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001809	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	169	cd01454	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	VAR_001809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001809	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	216	cd00198	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	VAR_001809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001809	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	114	cd01476	4502961,NP_000085
1294	1345650	Disease	p.Lys142Arg	VAR_001809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001809	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	111	cd01471	4502961,NP_000085
1294	1345650	Disease	p.Pro595Leu	VAR_001810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001810	rs2228561 Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	No Domain	N/A	4502961,NP_000085
1294	1345650	Disease	p.Pro1277Leu	VAR_001811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001811	rs35761247 Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	15	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly1347Arg	VAR_011160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011160	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	22	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly1519Asp	VAR_011161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011161	- Transient bullous dermolysis of the newborn (TBDN) [MIM:131705]	SWISS	7	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly1522Glu	VAR_011162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011162	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	10	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly1557Arg	VAR_001812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001812	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	37	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly1604Arg	VAR_011163	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011163	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	19	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly1652Arg	VAR_011164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011164	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	7	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly1703Glu	VAR_011165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011165	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	58	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Arg1772Trp	VAR_011166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011166	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	No Domain	N/A	4502961,NP_000085
1294	1345650	Disease	p.Gly1776Arg	VAR_011167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011167	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	4	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly1782Arg	VAR_001813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001813	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	10	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly1791Glu	VAR_011168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011168	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	19	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly1791Glu	VAR_011168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011168	- Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]	SWISS	19	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly1812Arg	VAR_011169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011169	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	40	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly1982Trp	VAR_001814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001814	- Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]	SWISS	No Domain	N/A	4502961,NP_000085
1294	1345650	Disease	p.Gly2003Arg	VAR_001815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001815	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	19	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2006Ala	VAR_011170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011170	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	22	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2006Asp	VAR_011171	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011171	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	22	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Arg2008Cys	VAR_011172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011172	- Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]	SWISS	24	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Arg2008Gly	VAR_001816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001816	- Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]	SWISS	24	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2009Arg	VAR_011173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011173	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	25	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2015Glu	VAR_011174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011174	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	31	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2025Ala	VAR_001817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001817	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	40	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2028Ala	VAR_011175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011175	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	43	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2028Arg	VAR_011176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011176	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	43	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2028Arg	VAR_011176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011176	- Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]	SWISS	43	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2031Ser	VAR_011177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011177	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	46	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2034Arg	VAR_001818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001818	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	49	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2034Arg	VAR_001818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001818	- Epidermolysis bullosa dystrophica with subcorneal cleavage (EBDSC) [MIM:607600]	SWISS	49	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2034Trp	VAR_011178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011178	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	49	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2037Glu	VAR_011179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011179	- Epidermolysis bullosa dystrophica Pasini type (P-DEB) [MIM:131750]	SWISS	52	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2040Asp	VAR_011180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011180	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	55	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2040Ser	VAR_001819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001819	- Epidermolysis bullosa dystrophica Pasini type (P-DEB) [MIM:131750]	SWISS	55	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2040Val	VAR_011181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011181	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	55	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2043Arg	VAR_001820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001820	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	58	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2043Trp	VAR_011182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011182	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	58	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2046Val	VAR_011183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011183	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	No Domain	N/A	4502961,NP_000085
1294	1345650	Disease	p.Gly2049Glu	VAR_001821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001821	- Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]	SWISS	4	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2055Glu	VAR_001822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001822	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	10	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Arg2063Trp	VAR_001823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001823	- Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]	SWISS	18	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2064Arg	VAR_011184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011184	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	19	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2073Asp	VAR_001825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001825	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	28	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2076Asp	VAR_001826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001826	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	31	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2079Glu	VAR_001827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001827	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	34	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2079Arg	VAR_011185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011185	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	34	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2132Asp	VAR_011186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011186	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	19	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2192Ser	VAR_011187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011187	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	19	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2207Arg	VAR_011188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011188	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	34	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2242Arg	VAR_001828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001828	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	10	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2242Arg	VAR_001828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001828	- Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]	SWISS	10	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2251Glu	VAR_011189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011189	- Transient bullous dermolysis of the newborn (TBDN) [MIM:131705]	SWISS	19	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2263Val	VAR_011190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011190	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	31	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2287Arg	VAR_011191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011191	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	55	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2316Arg	VAR_011192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011192	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	13	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2348Arg	VAR_011193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011193	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	43	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2351Arg	VAR_001829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001829	rs1800013 Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	46	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2366Ser	VAR_011194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011194	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	No Domain	N/A	4502961,NP_000085
1294	1345650	Disease	p.Gly2369Ser	VAR_011195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011195	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	No Domain	N/A	4502961,NP_000085
1294	1345650	Disease	p.Gly2369Ser	VAR_011195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011195	- Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]	SWISS	No Domain	N/A	4502961,NP_000085
1294	1345650	Disease	p.Gly2569Arg	VAR_001830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001830	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	16	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2575Arg	VAR_001831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001831	- Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]	SWISS	22	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2623Cys	VAR_001832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001832	- Epidermolysis bullosa dystrophica pretibial type (PR-DEB) [MIM:131850]	SWISS	10	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2653Arg	VAR_001833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001833	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	40	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2671Val	VAR_001834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001834	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	58	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2674Asp	VAR_011196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011196	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	No Domain	N/A	4502961,NP_000085
1294	1345650	Disease	p.Gly2674Arg	VAR_001835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001835	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	No Domain	N/A	4502961,NP_000085
1294	1345650	Disease	p.Gly2713Asp	VAR_011197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011197	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	40	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2713Arg	VAR_011198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011198	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	40	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2713Arg	VAR_011198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011198	- Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]	SWISS	40	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2740Ala	VAR_011199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011199	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	7	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2749Arg	VAR_001836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001836	- Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]	SWISS	16	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Gly2775Ser	VAR_011200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011200	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	46	pfam01391	4502961,NP_000085
1294	1345650	Disease	p.Arg2791Trp	VAR_011201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011201	- Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]	SWISS	No Domain	N/A	4502961,NP_000085
1294	1345650	Disease	p.Met2798Lys	VAR_001837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001837	- Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]	SWISS	No Domain	N/A	4502961,NP_000085
1296	45644957	Disease	p.Arg155Gln	VAR_017894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017894	- Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800]	SWISS	15	pfam01391	32964830,NP_005193
1296	45644957	Disease	p.Arg304Gln	VAR_017895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017895	- Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800]	SWISS	54	pfam01391	32964830,NP_005193
1296	45644957	Disease	p.Gly357Arg	VAR_017896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017896	- Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800]	SWISS	48	pfam01391	32964830,NP_005193
1296	45644957	Disease	p.Arg434His	VAR_017897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017897	- Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800]	SWISS	2	pfam01391	32964830,NP_005193
1296	45644957	Disease	p.Gln455Lys	VAR_017898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017898	- Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800]	SWISS	23	pfam01391	32964830,NP_005193
1296	45644957	Disease	p.Gln455Lys	VAR_017898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017898	- Posterior polymorphous corneal dystrophy type 2 (PPCD2) [MIM:609140]	SWISS	23	pfam01391	32964830,NP_005193
1296	45644957	Disease	p.Pro575Leu	VAR_017899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017899	- Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800]	SWISS	8	smart00110	32964830,NP_005193
1298	20137328	Disease	p.Gln326Trp	VAR_012658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012658	- Intervertebral disc disease (IDD) [MIM:603932]	SWISS	56	pfam01391	11386161,NP_001843
8292	116241309	Disease	p.Pro59Gln	VAR_010133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010133	- Congenital myasthenic syndrome Engel type (CMSE) [MIM:603034]	SWISS	No Domain	N/A	18105016,NP_005668
8292	116241309	Disease	p.Asp342Glu	VAR_010134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010134	- Congenital myasthenic syndrome Engel type (CMSE) [MIM:603034]	SWISS	No Domain	N/A	18105016,NP_005668
8292	116241309	Disease	p.Arg410Gln	VAR_010135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010135	- Congenital myasthenic syndrome Engel type (CMSE) [MIM:603034]	SWISS	No Domain	N/A	18105016,NP_005668
8292	116241309	Disease	p.Tyr430Ser	VAR_010136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010136	- Congenital myasthenic syndrome Engel type (CMSE) [MIM:603034]	SWISS	No Domain	N/A	18105016,NP_005668
8292	116241309	Disease	p.Cys444Tyr	VAR_010137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010137	- Congenital myasthenic syndrome Engel type (CMSE) [MIM:603034]	SWISS	No Domain	N/A	18105016,NP_005668
1311	209572601	Disease	p.Pro276Arg	VAR_026239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026239	- Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Asp290Asn	VAR_007614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007614	- Pseudoachondroplasia (PSACH) [MIM:177170]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Gly299Arg	VAR_007615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007615	- Pseudoachondroplasia (PSACH) [MIM:177170]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Cys328Arg	VAR_007616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007616	- Pseudoachondroplasia (PSACH) [MIM:177170]	SWISS	15	pfam02412	40217843,NP_000086
1311	209572601	Disease	p.Asp342Tyr	VAR_007617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007617	- Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Cys348Arg	VAR_017102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017102	- Pseudoachondroplasia (PSACH) [MIM:177170]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Asp349Val	VAR_007618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007618	- Pseudoachondroplasia (PSACH) [MIM:177170]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Asp361Val	VAR_007619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007619	- Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Asp361Tyr	VAR_007620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007620	- Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Cys371Ser	VAR_007622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007622	- Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Cys387Gly	VAR_007625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007625	- Pseudoachondroplasia (PSACH) [MIM:177170]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Asp408Tyr	VAR_007627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007627	- Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Asp420Ala	VAR_026240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026240	- Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Gly440Glu	VAR_007628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007628	- Pseudoachondroplasia (PSACH) [MIM:177170]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Gly440Arg	VAR_007629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007629	- Pseudoachondroplasia (PSACH) [MIM:177170]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Asn453Ser	VAR_007630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007630	rs28936668 Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Cys468Tyr	VAR_007632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007632	- Pseudoachondroplasia (PSACH) [MIM:177170]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Asp472Tyr	VAR_007634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007634	- Pseudoachondroplasia (PSACH) [MIM:177170]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Asp473Gly	VAR_007635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007635	rs28936669 Pseudoachondroplasia (PSACH) [MIM:177170]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Asp482Gly	VAR_007637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007637	- Pseudoachondroplasia (PSACH) [MIM:177170]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Asp518Asn	VAR_007639	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007639	- Pseudoachondroplasia (PSACH) [MIM:177170]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Asn523Lys	VAR_007640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007640	- Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]	SWISS	No Domain	N/A	40217843,NP_000086
1311	209572601	Disease	p.Thr585Met	VAR_007641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007641	- Pseudoachondroplasia (PSACH) [MIM:177170]	SWISS	40	pfam05735	40217843,NP_000086
1311	209572601	Disease	p.Thr585Arg	VAR_007642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007642	- Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]	SWISS	40	pfam05735	40217843,NP_000086
1311	209572601	Disease	p.Gly719Asp	VAR_017103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017103	- Pseudoachondroplasia (PSACH) [MIM:177170]	SWISS	175	pfam05735	40217843,NP_000086
27235	74731901	Disease	p.Tyr247Cys	VAR_025701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025701	- Coenzyme Q10 deficiency [MIM:607426]	SWISS	421	pfam01040	NULL
27235	74731901	Disease	p.Tyr247Cys	VAR_025701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025701	- Coenzyme Q10 deficiency [MIM:607426]	SWISS	227	COG0382	NULL
27235	74731901	Disease	p.Tyr247Cys	VAR_025701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025701	- Coenzyme Q10 deficiency [MIM:607426]	SWISS	233	COG0109	NULL
1352	292495084	Disease	p.Thr196Lys	VAR_026562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026562	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	60	pfam01040	17921982,NP_001294
1352	292495084	Disease	p.Thr196Lys	VAR_026562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026562	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	101	COG0109	17921982,NP_001294
1352	292495084	Disease	p.Thr196Lys	VAR_026562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026562	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	70	COG0382	17921982,NP_001294
1352	292495084	Disease	p.Asn204Lys	VAR_026563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026563	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	84	pfam01040	17921982,NP_001294
1352	292495084	Disease	p.Asn204Lys	VAR_026563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026563	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	109	COG0109	17921982,NP_001294
1352	292495084	Disease	p.Asn204Lys	VAR_026563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026563	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	78	COG0382	17921982,NP_001294
1352	292495084	Disease	p.Pro225Leu	VAR_026564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026564	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	145	pfam01040	17921982,NP_001294
1352	292495084	Disease	p.Pro225Leu	VAR_026564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026564	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	130	COG0109	17921982,NP_001294
1352	292495084	Disease	p.Pro225Leu	VAR_026564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026564	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	108	COG0382	17921982,NP_001294
1352	292495084	Disease	p.Asp336Gly	VAR_026565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026565	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	440	pfam01040	17921982,NP_001294
1352	292495084	Disease	p.Asp336Gly	VAR_026565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026565	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	250	COG0109	17921982,NP_001294
1352	292495084	Disease	p.Asp336Gly	VAR_026565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026565	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	238	COG0382	17921982,NP_001294
1352	292495084	Disease	p.Asp336Val	VAR_026566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026566	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	440	pfam01040	17921982,NP_001294
1352	292495084	Disease	p.Asp336Val	VAR_026566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026566	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	250	COG0109	17921982,NP_001294
1352	292495084	Disease	p.Asp336Val	VAR_026566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026566	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	238	COG0382	17921982,NP_001294
1355	51315906	Disease	p.Arg217Trp	VAR_019596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019596	rs28939711 Leigh syndrome [MIM:256000]	SWISS	208	COG1612	17921985,NP_510870
1355	51315906	Disease	p.Arg217Trp	VAR_019596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019596	rs28939711 Leigh syndrome [MIM:256000]	SWISS	267	pfam02628	17921985,NP_510870
1355	51315906	Disease	p.Arg217Trp	VAR_019596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019596	rs28939711 Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	208	COG1612	17921985,NP_510870
1355	51315906	Disease	p.Arg217Trp	VAR_019596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019596	rs28939711 Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	267	pfam02628	17921985,NP_510870
1355	51315906	Disease	p.Ser344Pro	VAR_033117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033117	- Leigh syndrome [MIM:256000]	SWISS	370	COG1612	17921985,NP_510870
1355	51315906	Disease	p.Ser344Pro	VAR_033117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033117	- Leigh syndrome [MIM:256000]	SWISS	681	pfam02628	17921985,NP_510870
84701	73620953	Disease	p.Glu138Lys	VAR_058101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058101	- Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714]	SWISS	126	cd00922	17999526,NP_115998
84701	73620953	Disease	p.Glu138Lys	VAR_058101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058101	- Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714]	SWISS	112	pfam02936	17999526,NP_115998
1340	117115	Disease	p.Arg20His	VAR_046775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046775	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	13	cd00926	4502985,NP_001854
1340	117115	Disease	p.Arg20His	VAR_046775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046775	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	2	pfam02297	4502985,NP_001854
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	154	cd03864	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	257	cd03860	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	370	smart00631	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	154	cd03870	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	185	cd03868	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	169	cd03867	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	219	cd03858	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	158	cd03865	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	149_G	cd03866	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	158	cd03869	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	108_G	cd06243	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	166_G	cd03857	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	90	cd06904	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	187	cd00596	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	153_G	cd03863	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	176	cd06226	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	155	cd06246	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	240	cd06905	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	145_G	cd06245	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	211	cd06239	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	199	cd06227	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	222	cd03859	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	323	pfam00246	4503011,NP_001299
1369	115896	Disease	p.Gly178Asp	VAR_042415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042415	- Carboxypeptidase N deficiency (CPN deficiency) [MIM:212070]	SWISS	152	cd06229	4503011,NP_001299
1371	67476671	Disease	p.Val135Ala	VAR_023444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023444	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	No Domain	N/A	41393599,NP_000088
1371	67476671	Disease	p.Gly189Ser	VAR_002152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002152	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	73	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.Gly189Ser	VAR_002152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002152	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	61	COG0408	41393599,NP_000088
1371	67476671	Disease	p.Gly197Trp	VAR_002153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002153	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	82	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.Gly197Trp	VAR_002153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002153	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	69	COG0408	41393599,NP_000088
1371	67476671	Disease	p.Glu201Lys	VAR_002154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002154	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	86	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.Glu201Lys	VAR_002154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002154	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	73	COG0408	41393599,NP_000088
1371	67476671	Disease	p.Ser208Phe	VAR_019067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019067	rs28929486 Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	93	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.Ser208Phe	VAR_019067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019067	rs28929486 Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	80	COG0408	41393599,NP_000088
1371	67476671	Disease	p.Leu214Arg	VAR_023445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023445	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	99	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.Leu214Arg	VAR_023445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023445	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	86	COG0408	41393599,NP_000088
1371	67476671	Disease	p.Pro249Arg	VAR_023446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023446	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	166	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.Pro249Arg	VAR_023446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023446	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	130	COG0408	41393599,NP_000088
1371	67476671	Disease	p.Pro249Ser	VAR_002155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002155	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	166	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.Pro249Ser	VAR_002155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002155	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	130	COG0408	41393599,NP_000088
1371	67476671	Disease	p.Gly279Arg	VAR_058005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058005	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	205	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.Gly279Arg	VAR_058005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058005	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	161	COG0408	41393599,NP_000088
1371	67476671	Disease	p.Gly280Arg	VAR_002157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002157	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	206	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.Gly280Arg	VAR_002157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002157	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	162	COG0408	41393599,NP_000088
1371	67476671	Disease	p.His295Asp	VAR_002159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002159	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	226	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.His295Asp	VAR_002159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002159	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	182	COG0408	41393599,NP_000088
1371	67476671	Disease	p.Arg328Cys	VAR_019068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019068	rs28929487 Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	260	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.Arg328Cys	VAR_019068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019068	rs28929487 Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	216	COG0408	41393599,NP_000088
1371	67476671	Disease	p.Arg331Trp	VAR_002160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002160	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	263	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.Arg331Trp	VAR_002160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002160	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	219	COG0408	41393599,NP_000088
1371	67476671	Disease	p.Lys404Glu	VAR_002162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002162	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	352	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.Lys404Glu	VAR_002162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002162	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	318	COG0408	41393599,NP_000088
1371	67476671	Disease	p.Trp427Arg	VAR_002163	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002163	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	376	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.Trp427Arg	VAR_002163	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002163	- Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	341	COG0408	41393599,NP_000088
1371	67476671	Disease	p.Arg447Cys	VAR_019069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019069	rs28931603 Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	396	pfam01218	41393599,NP_000088
1371	67476671	Disease	p.Arg447Cys	VAR_019069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019069	rs28931603 Hereditary coproporphyria (HCP) [MIM:121300]	SWISS	361	COG0408	41393599,NP_000088
1373	4033707	Disease	p.Gly79Glu	VAR_063560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063560	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	44	pfam00988	21361331,NP_001866
1373	4033707	Disease	p.Gly79Glu	VAR_063560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063560	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	59	COG0505	21361331,NP_001866
1373	4033707	Disease	p.Tyr212Asn	VAR_063561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063561	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	219	COG0505	21361331,NP_001866
1373	4033707	Disease	p.Lys280Asn	VAR_063562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063562	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	96	COG0518	21361331,NP_001866
1373	4033707	Disease	p.Lys280Asn	VAR_063562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063562	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	187	cd01741	21361331,NP_001866
1373	4033707	Disease	p.Lys280Asn	VAR_063562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063562	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	96	pfam07722	21361331,NP_001866
1373	4033707	Disease	p.Lys280Asn	VAR_063562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063562	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	100	pfam00117	21361331,NP_001866
1373	4033707	Disease	p.Lys280Asn	VAR_063562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063562	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	130	cd01745	21361331,NP_001866
1373	4033707	Disease	p.Lys280Asn	VAR_063562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063562	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	75	cd01744	21361331,NP_001866
1373	4033707	Disease	p.Lys280Asn	VAR_063562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063562	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	278	cd01653	21361331,NP_001866
1373	4033707	Disease	p.Lys280Asn	VAR_063562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063562	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	104	cd01743	21361331,NP_001866
1373	4033707	Disease	p.Lys280Asn	VAR_063562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063562	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	315	COG0505	21361331,NP_001866
1373	4033707	Disease	p.His337Arg	VAR_014077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014077	rs28940283 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	177	COG0518	21361331,NP_001866
1373	4033707	Disease	p.His337Arg	VAR_014077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014077	rs28940283 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	342	cd01741	21361331,NP_001866
1373	4033707	Disease	p.His337Arg	VAR_014077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014077	rs28940283 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	207	pfam07722	21361331,NP_001866
1373	4033707	Disease	p.His337Arg	VAR_014077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014077	rs28940283 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	225	pfam00117	21361331,NP_001866
1373	4033707	Disease	p.His337Arg	VAR_014077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014077	rs28940283 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	258	cd01745	21361331,NP_001866
1373	4033707	Disease	p.His337Arg	VAR_014077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014077	rs28940283 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	144	cd01744	21361331,NP_001866
1373	4033707	Disease	p.His337Arg	VAR_014077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014077	rs28940283 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	358	cd01653	21361331,NP_001866
1373	4033707	Disease	p.His337Arg	VAR_014077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014077	rs28940283 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	177	cd01743	21361331,NP_001866
1373	4033707	Disease	p.His337Arg	VAR_014077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014077	rs28940283 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	375	COG0505	21361331,NP_001866
1373	4033707	Disease	p.Ala438Pro	VAR_063563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063563	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	11	COG0458	21361331,NP_001866
1373	4033707	Disease	p.Ala438Pro	VAR_063563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063563	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	17	pfam00289	21361331,NP_001866
1373	4033707	Disease	p.Ala438Pro	VAR_063563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063563	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	19_G	COG0439	21361331,NP_001866
1373	4033707	Disease	p.Val457Gly	VAR_017562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017562	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	30	COG0458	21361331,NP_001866
1373	4033707	Disease	p.Val457Gly	VAR_017562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017562	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	67	pfam00289	21361331,NP_001866
1373	4033707	Disease	p.Val457Gly	VAR_017562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017562	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	30	COG0439	21361331,NP_001866
1373	4033707	Disease	p.Thr544Met	VAR_006835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006835	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	119	COG0458	21361331,NP_001866
1373	4033707	Disease	p.Thr544Met	VAR_006835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006835	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	140	COG0439	21361331,NP_001866
1373	4033707	Disease	p.Arg587His	VAR_063564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063564	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	222	COG0458	21361331,NP_001866
1373	4033707	Disease	p.Arg587His	VAR_063564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063564	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	45	pfam02786	21361331,NP_001866
1373	4033707	Disease	p.Arg587His	VAR_063564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063564	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	211	COG0439	21361331,NP_001866
1373	4033707	Disease	p.Gly593Ala	VAR_063565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063565	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	228	COG0458	21361331,NP_001866
1373	4033707	Disease	p.Gly593Ala	VAR_063565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063565	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	51	pfam02786	21361331,NP_001866
1373	4033707	Disease	p.Gly593Ala	VAR_063565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063565	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	217	COG0439	21361331,NP_001866
1373	4033707	Disease	p.Glu651Lys	VAR_063566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063566	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	289	COG0458	21361331,NP_001866
1373	4033707	Disease	p.Glu651Lys	VAR_063566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063566	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	115	pfam02786	21361331,NP_001866
1373	4033707	Disease	p.Glu651Lys	VAR_063566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063566	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	291_G	COG0439	21361331,NP_001866
1373	4033707	Disease	p.Asn674Ile	VAR_063567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063567	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	312	COG0458	21361331,NP_001866
1373	4033707	Disease	p.Asn674Ile	VAR_063567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063567	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	138	pfam02786	21361331,NP_001866
1373	4033707	Disease	p.Asn674Ile	VAR_063567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063567	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	323	COG0439	21361331,NP_001866
1373	4033707	Disease	p.Arg780His	VAR_063568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063568	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	427	COG0458	21361331,NP_001866
1373	4033707	Disease	p.Arg780His	VAR_063568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063568	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	507	COG0439	21361331,NP_001866
1373	4033707	Disease	p.Gln810Arg	VAR_017563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017563	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	457	COG0458	21361331,NP_001866
1373	4033707	Disease	p.Gln810Arg	VAR_017563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017563	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	540	COG0439	21361331,NP_001866
1373	4033707	Disease	p.Leu843Ser	VAR_017564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017564	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	9	pfam02787	21361331,NP_001866
1373	4033707	Disease	p.Leu843Ser	VAR_017564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017564	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	586	COG0439	21361331,NP_001866
1373	4033707	Disease	p.Arg850Cys	VAR_063569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063569	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	16	pfam02787	21361331,NP_001866
1373	4033707	Disease	p.Arg850Cys	VAR_063569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063569	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	593	COG0439	21361331,NP_001866
1373	4033707	Disease	p.Arg850His	VAR_030675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030675	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	16	pfam02787	21361331,NP_001866
1373	4033707	Disease	p.Arg850His	VAR_030675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030675	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	593	COG0439	21361331,NP_001866
1373	4033707	Disease	p.Lys875Glu	VAR_017565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017565	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	43	pfam02787	21361331,NP_001866
1373	4033707	Disease	p.Ser918Pro	VAR_030676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030676	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	111	pfam02787	21361331,NP_001866
1373	4033707	Disease	p.Gly982Asp	VAR_063570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063570	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	4	COG0458	21361331,NP_001866
1373	4033707	Disease	p.Gly982Asp	VAR_063570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063570	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	10	pfam00289	21361331,NP_001866
1373	4033707	Disease	p.Gln1103Arg	VAR_063571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063571	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	16	pfam02786	21361331,NP_001866
1373	4033707	Disease	p.Gln1103Arg	VAR_063571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063571	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	9	pfam02222	21361331,NP_001866
1373	4033707	Disease	p.Gln1103Arg	VAR_063571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063571	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	136	COG0458	21361331,NP_001866
1373	4033707	Disease	p.Val1141Gly	VAR_063572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063572	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	57	pfam02786	21361331,NP_001866
1373	4033707	Disease	p.Val1141Gly	VAR_063572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063572	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	55	pfam02222	21361331,NP_001866
1373	4033707	Disease	p.Val1141Gly	VAR_063572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063572	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	234	COG0458	21361331,NP_001866
1373	4033707	Disease	p.His1195Pro	VAR_063573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063573	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	116	pfam02786	21361331,NP_001866
1373	4033707	Disease	p.His1195Pro	VAR_063573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063573	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	116	pfam02222	21361331,NP_001866
1373	4033707	Disease	p.His1195Pro	VAR_063573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063573	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	290	COG0458	21361331,NP_001866
1373	4033707	Disease	p.Ile1215Val	VAR_063574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063574	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	136	pfam02786	21361331,NP_001866
1373	4033707	Disease	p.Ile1215Val	VAR_063574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063574	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	132	pfam02222	21361331,NP_001866
1373	4033707	Disease	p.Ile1215Val	VAR_063574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063574	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	310	COG0458	21361331,NP_001866
1373	4033707	Disease	p.Asn1241Lys	VAR_063575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063575	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	163	pfam02786	21361331,NP_001866
1373	4033707	Disease	p.Asn1241Lys	VAR_063575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063575	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	162	pfam02222	21361331,NP_001866
1373	4033707	Disease	p.Asn1241Lys	VAR_063575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063575	- Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]	SWISS	340	COG0458	21361331,NP_001866
1374	56405343	Disease	p.Arg123Cys	VAR_020546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020546	- Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]	SWISS	No Domain	N/A	73623030,NP_001867
1374	56405343	Disease	p.Cys304Trp	VAR_020548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020548	- Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]	SWISS	188	pfam00755	73623030,NP_001867
1374	56405343	Disease	p.Thr314Ile	VAR_020549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020549	- Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]	SWISS	198	pfam00755	73623030,NP_001867
1374	56405343	Disease	p.Arg316Gly	VAR_046767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046767	- Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]	SWISS	200	pfam00755	73623030,NP_001867
1374	56405343	Disease	p.Phe343Val	VAR_046768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046768	- Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]	SWISS	240	pfam00755	73623030,NP_001867
1374	56405343	Disease	p.Arg357Trp	VAR_020550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020550	- Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]	SWISS	257	pfam00755	73623030,NP_001867
1374	56405343	Disease	p.Glu360Gly	VAR_020551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020551	rs28936372 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]	SWISS	260	pfam00755	73623030,NP_001867
1374	56405343	Disease	p.Ala414Val	VAR_020553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020553	rs28936373 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]	SWISS	316	pfam00755	73623030,NP_001867
1374	56405343	Disease	p.Asp454Gly	VAR_020554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020554	- Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]	SWISS	387	pfam00755	73623030,NP_001867
1374	56405343	Disease	p.Gly465Trp	VAR_046769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046769	- Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]	SWISS	398	pfam00755	73623030,NP_001867
1374	56405343	Disease	p.Pro479Leu	VAR_020555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020555	- Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]	SWISS	412	pfam00755	73623030,NP_001867
1374	56405343	Disease	p.Leu484Pro	VAR_020556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020556	- Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]	SWISS	417	pfam00755	73623030,NP_001867
1374	56405343	Disease	p.Tyr498Cys	VAR_020557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020557	- Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]	SWISS	431	pfam00755	73623030,NP_001867
1374	56405343	Disease	p.Gly709Glu	VAR_020558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020558	rs28936374 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]	SWISS	701	pfam00755	73623030,NP_001867
1374	56405343	Disease	p.Gly710Glu	VAR_020559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020559	- Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]	SWISS	702	pfam00755	73623030,NP_001867
1376	416836	Disease	p.Pro50His	VAR_001391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001391	rs28936674 Carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]	SWISS	3	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Ser113Leu	VAR_001392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001392	- Carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]	SWISS	75	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Arg151Gln	VAR_020540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020540	- Carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]	SWISS	126	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Glu174Lys	VAR_001393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001393	rs28936674 Carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]	SWISS	149	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Tyr210Asp	VAR_020541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020541	- Carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]	SWISS	185	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Asp213Gly	VAR_037976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037976	- Carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]	SWISS	188	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Met214Thr	VAR_007966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007966	- Carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]	SWISS	189	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Pro227Leu	VAR_007967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007967	- Carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]	SWISS	205	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Arg296Gln	VAR_020542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020542	- Carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]	SWISS	288	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Phe383Tyr	VAR_001396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001396	rs28936673 Carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]	SWISS	417	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Phe448Leu	VAR_007968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007968	- Carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]	SWISS	506	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Tyr479Phe	VAR_007969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007969	- Carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]	SWISS	538	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Arg503Cys	VAR_007970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007970	- Carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]	SWISS	562	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Gly549Asp	VAR_007971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007971	- Carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]	SWISS	631	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Gln550Arg	VAR_020543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020543	- Carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]	SWISS	632	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Asp553Asn	VAR_001397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001397	rs28936376 Carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]	SWISS	635	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Gly600Arg	VAR_020544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020544	- Carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]	SWISS	702	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Pro604Ser	VAR_020545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020545	- Carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]	SWISS	709	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Tyr628Ser	VAR_001398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001398	rs28936673 Carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]	SWISS	736	pfam00755	4503023,NP_000089
1376	416836	Disease	p.Arg631Cys	VAR_001399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001399	- Carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, 600649]	SWISS	740	pfam00755	4503023,NP_000089
23418	71153499	Disease	p.Phe144Val	VAR_022941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022941	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	84	cd00053	41327708,NP_957705
23418	71153499	Disease	p.Phe144Val	VAR_022941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022941	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	81	smart00181	41327708,NP_957705
23418	71153499	Disease	p.Ala161Val	VAR_011641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011641	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	21	smart00181	41327708,NP_957705
23418	71153499	Disease	p.Ala161Val	VAR_011641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011641	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	26	cd00053	41327708,NP_957705
23418	71153499	Disease	p.Ala161Val	VAR_011641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011641	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	29	smart00179	41327708,NP_957705
23418	71153499	Disease	p.Ala161Val	VAR_011641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011641	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	34	cd00054	41327708,NP_957705
23418	71153499	Disease	p.Ala161Val	VAR_011641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011641	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	16	pfam00008	41327708,NP_957705
23418	71153499	Disease	p.Val162Met	VAR_022942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022942	- Pigmented paravenous chorioretinal atrophy (PPCRA) [MIM:172870]	SWISS	26	smart00181	41327708,NP_957705
23418	71153499	Disease	p.Val162Met	VAR_022942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022942	- Pigmented paravenous chorioretinal atrophy (PPCRA) [MIM:172870]	SWISS	27	cd00053	41327708,NP_957705
23418	71153499	Disease	p.Val162Met	VAR_022942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022942	- Pigmented paravenous chorioretinal atrophy (PPCRA) [MIM:172870]	SWISS	33	smart00179	41327708,NP_957705
23418	71153499	Disease	p.Val162Met	VAR_022942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022942	- Pigmented paravenous chorioretinal atrophy (PPCRA) [MIM:172870]	SWISS	35	cd00054	41327708,NP_957705
23418	71153499	Disease	p.Val162Met	VAR_022942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022942	- Pigmented paravenous chorioretinal atrophy (PPCRA) [MIM:172870]	SWISS	17	pfam00008	41327708,NP_957705
23418	71153499	Disease	p.Cys195Phe	VAR_022943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022943	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	25	smart00179	41327708,NP_957705
23418	71153499	Disease	p.Cys195Phe	VAR_022943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022943	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	25	cd00054	41327708,NP_957705
23418	71153499	Disease	p.Cys195Phe	VAR_022943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022943	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	10	pfam00008	41327708,NP_957705
23418	71153499	Disease	p.Cys195Phe	VAR_022943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022943	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	14	pfam07645	41327708,NP_957705
23418	71153499	Disease	p.Cys195Phe	VAR_022943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022943	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	17	smart00181	41327708,NP_957705
23418	71153499	Disease	p.Cys195Phe	VAR_022943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022943	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	19	cd00053	41327708,NP_957705
23418	71153499	Disease	p.Cys250Trp	VAR_011642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011642	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	58	cd00053	41327708,NP_957705
23418	71153499	Disease	p.Cys250Trp	VAR_011642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011642	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	57	smart00181	41327708,NP_957705
23418	71153499	Disease	p.Cys250Trp	VAR_011642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011642	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	37	pfam00008	41327708,NP_957705
23418	71153499	Disease	p.Cys250Trp	VAR_011642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011642	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	55	smart00179	41327708,NP_957705
23418	71153499	Disease	p.Cys250Trp	VAR_011642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011642	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	60	cd00054	41327708,NP_957705
23418	71153499	Disease	p.Cys383Tyr	VAR_022946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022946	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	48	smart00179	41327708,NP_957705
23418	71153499	Disease	p.Cys383Tyr	VAR_022946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022946	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	53	cd00054	41327708,NP_957705
23418	71153499	Disease	p.Cys383Tyr	VAR_022946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022946	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	51	cd00053	41327708,NP_957705
23418	71153499	Disease	p.Tyr433Cys	VAR_022947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022947	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	46	pfam00008	41327708,NP_957705
23418	71153499	Disease	p.Tyr433Cys	VAR_022947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022947	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	67	smart00181	41327708,NP_957705
23418	71153499	Disease	p.Tyr433Cys	VAR_022947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022947	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	68	cd00053	41327708,NP_957705
23418	71153499	Disease	p.Tyr433Cys	VAR_022947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022947	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	70	cd00054	41327708,NP_957705
23418	71153499	Disease	p.Tyr433Cys	VAR_022947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022947	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	69	smart00179	41327708,NP_957705
23418	71153499	Disease	p.Cys480Gly	VAR_022948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022948	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	85	cd00053	41327708,NP_957705
23418	71153499	Disease	p.Cys480Gly	VAR_022948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022948	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	82	smart00181	41327708,NP_957705
23418	71153499	Disease	p.Cys480Arg	VAR_022949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022949	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	85	cd00053	41327708,NP_957705
23418	71153499	Disease	p.Cys480Arg	VAR_022949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022949	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	82	smart00181	41327708,NP_957705
23418	71153499	Disease	p.Val578Glu	VAR_022950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022950	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	270	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Val578Glu	VAR_022950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022950	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	83	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Val578Glu	VAR_022950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022950	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	120	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Val578Glu	VAR_022950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022950	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	164	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Asp584Tyr	VAR_022951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022951	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	279	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Asp584Tyr	VAR_022951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022951	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	89	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Asp584Tyr	VAR_022951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022951	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	147	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Asp584Tyr	VAR_022951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022951	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	170	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Cys587Tyr	VAR_022952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022952	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	285	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Cys587Tyr	VAR_022952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022952	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	93	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Cys587Tyr	VAR_022952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022952	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	150	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Cys587Tyr	VAR_022952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022952	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	173	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Cys681Tyr	VAR_022954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022954	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	10	pfam00008	41327708,NP_957705
23418	71153499	Disease	p.Cys681Tyr	VAR_022954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022954	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	25	smart00179	41327708,NP_957705
23418	71153499	Disease	p.Cys681Tyr	VAR_022954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022954	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	25	cd00054	41327708,NP_957705
23418	71153499	Disease	p.Cys681Tyr	VAR_022954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022954	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	19	cd00053	41327708,NP_957705
23418	71153499	Disease	p.Cys681Tyr	VAR_022954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022954	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	17	smart00181	41327708,NP_957705
23418	71153499	Disease	p.Glu710Gln	VAR_022955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022955	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	No Domain	N/A	41327708,NP_957705
23418	71153499	Disease	p.Met741Thr	VAR_022956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022956	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	38	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Met741Thr	VAR_022956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022956	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	7	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Thr745Met	VAR_011643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011643	rs28939720 Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	3	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Thr745Met	VAR_011643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011643	rs28939720 Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	3	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Thr745Met	VAR_011643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011643	rs28939720 Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	42	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Thr745Met	VAR_011643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011643	rs28939720 Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	21	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Arg764Cys	VAR_011644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011644	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	44	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Arg764Cys	VAR_011644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011644	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	35	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Arg764Cys	VAR_011644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011644	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	82	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Arg764Cys	VAR_011644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011644	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	111	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Arg764Cys	VAR_011644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011644	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	44	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Arg764Cys	VAR_011644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011644	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	35	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Arg764Cys	VAR_011644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011644	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	82	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Arg764Cys	VAR_011644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011644	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	111	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Pro836Thr	VAR_022960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022960	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	210	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Pro836Thr	VAR_022960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022960	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	146	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Pro836Thr	VAR_022960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022960	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	237	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Pro836Thr	VAR_022960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022960	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	477	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Asp837His	VAR_022961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022961	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	211	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Asp837His	VAR_022961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022961	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	154	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Asp837His	VAR_022961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022961	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	238	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Asp837His	VAR_022961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022961	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	488	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Gly846Arg	VAR_022962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022962	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	232	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Gly846Arg	VAR_022962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022962	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	163	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Gly846Arg	VAR_022962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022962	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	283	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Gly846Arg	VAR_022962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022962	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	570	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Gly850Ser	VAR_022963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022963	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	236	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Gly850Ser	VAR_022963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022963	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	168	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Gly850Ser	VAR_022963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022963	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	287	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Gly850Ser	VAR_022963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022963	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	579	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Ile852Thr	VAR_022964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022964	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	238	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Ile852Thr	VAR_022964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022964	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	170	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Ile852Thr	VAR_022964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022964	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	289	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Ile852Thr	VAR_022964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022964	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	581	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Cys891Gly	VAR_022965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022965	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	5	cd00054	41327708,NP_957705
23418	71153499	Disease	p.Cys891Gly	VAR_022965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022965	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	2	smart00181	41327708,NP_957705
23418	71153499	Disease	p.Cys891Gly	VAR_022965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022965	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	2	cd00053	41327708,NP_957705
23418	71153499	Disease	p.Cys891Gly	VAR_022965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022965	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	5	smart00179	41327708,NP_957705
23418	71153499	Disease	p.Asn894Ser	VAR_022966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022966	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	23	cd00054	41327708,NP_957705
23418	71153499	Disease	p.Asn894Ser	VAR_022966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022966	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	4	pfam00008	41327708,NP_957705
23418	71153499	Disease	p.Asn894Ser	VAR_022966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022966	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	15	smart00181	41327708,NP_957705
23418	71153499	Disease	p.Asn894Ser	VAR_022966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022966	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	17	cd00053	41327708,NP_957705
23418	71153499	Disease	p.Asn894Ser	VAR_022966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022966	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	23	smart00179	41327708,NP_957705
23418	71153499	Disease	p.Cys948Tyr	VAR_011645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011645	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	No Domain	N/A	41327708,NP_957705
23418	71153499	Disease	p.Cys948Tyr	VAR_011645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011645	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	No Domain	N/A	41327708,NP_957705
23418	71153499	Disease	p.Gly959Ser	VAR_022968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022968	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	14	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Asn986Ile	VAR_022970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022970	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	7	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Asn986Ile	VAR_022970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022970	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	10	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Asn986Ile	VAR_022970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022970	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	29	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Asn986Ile	VAR_022970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022970	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	54	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Ile989Thr	VAR_022971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022971	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	10	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Ile989Thr	VAR_022971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022971	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	13	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Ile989Thr	VAR_022971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022971	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	42	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Ile989Thr	VAR_022971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022971	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	57	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Ser1025Ile	VAR_022972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022972	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	62	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Ser1025Ile	VAR_022972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022972	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	86	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Ser1025Ile	VAR_022972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022972	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	174	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Ser1025Ile	VAR_022972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022972	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	123	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Met1041Thr	VAR_011646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011646	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	79	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Met1041Thr	VAR_011646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011646	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	116	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Met1041Thr	VAR_011646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011646	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	220	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Met1041Thr	VAR_011646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011646	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	145	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Leu1071Pro	VAR_011647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011647	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	126	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Leu1071Pro	VAR_011647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011647	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	162	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Leu1071Pro	VAR_011647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011647	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	366	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Leu1071Pro	VAR_011647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011647	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	192	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Ile1100Arg	VAR_011648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011648	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	173	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Ile1100Arg	VAR_011648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011648	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	241	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Ile1100Arg	VAR_011648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011648	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	584	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Ile1100Arg	VAR_011648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011648	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	292	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Ile1100Thr	VAR_022973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022973	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	173	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Ile1100Thr	VAR_022973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022973	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	241	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Ile1100Thr	VAR_022973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022973	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	584	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Ile1100Thr	VAR_022973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022973	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	292	cd00110	41327708,NP_957705
23418	71153499	Disease	p.Gly1103Arg	VAR_022974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022974	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	176	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Gly1103Arg	VAR_022974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022974	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	244	pfam02210	41327708,NP_957705
23418	71153499	Disease	p.Gly1103Arg	VAR_022974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022974	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	588	smart00282	41327708,NP_957705
23418	71153499	Disease	p.Leu1107Pro	VAR_022975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022975	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	180	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Leu1107Arg	VAR_022976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022976	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	180	pfam00054	41327708,NP_957705
23418	71153499	Disease	p.Cys1181Arg	VAR_011649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011649	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	2	smart00181	41327708,NP_957705
23418	71153499	Disease	p.Cys1181Arg	VAR_011649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011649	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	2	cd00053	41327708,NP_957705
23418	71153499	Disease	p.Cys1181Arg	VAR_011649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011649	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	5	smart00179	41327708,NP_957705
23418	71153499	Disease	p.Cys1181Arg	VAR_011649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011649	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	5	cd00054	41327708,NP_957705
23418	71153499	Disease	p.Gly1205Arg	VAR_022977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022977	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	64	smart00181	41327708,NP_957705
23418	71153499	Disease	p.Gly1205Arg	VAR_022977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022977	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	64	cd00053	41327708,NP_957705
23418	71153499	Disease	p.Gly1205Arg	VAR_022977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022977	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	60	smart00179	41327708,NP_957705
23418	71153499	Disease	p.Gly1205Arg	VAR_022977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022977	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	68	cd00054	41327708,NP_957705
23418	71153499	Disease	p.Gly1205Arg	VAR_022977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022977	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	40	pfam00008	41327708,NP_957705
23418	71153499	Disease	p.Cys1218Phe	VAR_022978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022978	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	5	cd00054	41327708,NP_957705
23418	71153499	Disease	p.Cys1218Phe	VAR_022978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022978	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	5	smart00179	41327708,NP_957705
23418	71153499	Disease	p.Cys1218Phe	VAR_022978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022978	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	2	cd00053	41327708,NP_957705
23418	71153499	Disease	p.Cys1218Phe	VAR_022978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022978	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	2	smart00181	41327708,NP_957705
23418	71153499	Disease	p.Asn1317His	VAR_022979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022979	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	31	pfam00008	41327708,NP_957705
23418	71153499	Disease	p.Asn1317His	VAR_022979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022979	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	49	cd00054	41327708,NP_957705
23418	71153499	Disease	p.Asn1317His	VAR_022979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022979	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	44	smart00179	41327708,NP_957705
23418	71153499	Disease	p.Asn1317His	VAR_022979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022979	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	46	smart00181	41327708,NP_957705
23418	71153499	Disease	p.Asn1317His	VAR_022979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022979	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	47	cd00053	41327708,NP_957705
23418	71153499	Disease	p.Cys1321Ser	VAR_022980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022980	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	35	pfam00008	41327708,NP_957705
23418	71153499	Disease	p.Cys1321Ser	VAR_022980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022980	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	53	cd00054	41327708,NP_957705
23418	71153499	Disease	p.Cys1321Ser	VAR_022980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022980	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	48	smart00179	41327708,NP_957705
23418	71153499	Disease	p.Cys1321Ser	VAR_022980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022980	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	50	smart00181	41327708,NP_957705
23418	71153499	Disease	p.Cys1321Ser	VAR_022980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022980	- Leber congenital amaurosis type 8 (LCA8) [MIM:604210]	SWISS	51	cd00053	41327708,NP_957705
23418	71153499	Disease	p.Ala1354Thr	VAR_022982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022982	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	No Domain	N/A	41327708,NP_957705
23418	71153499	Disease	p.Arg1383His	VAR_022983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022983	- Retinitis pigmentosa type 12 (RP12) [MIM:600105]	SWISS	No Domain	N/A	41327708,NP_957705
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	117	cd05500	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	94	cd05497	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	98	cd05511	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	203	cd04369	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	90	cd05519	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	127	cd05528	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	84	cd05512	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	178	smart00297	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	186	cd05529	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	93	cd05524	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	95	cd05504	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	89	cd05496	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	108	cd05502	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	90	cd05498	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	175	pfam00439	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	94	cd05522	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	90	cd05515	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	108	cd05517	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	86	cd05506	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	272	COG5076	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	83	cd05505	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	95	cd05510	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	95	cd05520	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	108	cd05516	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	87	cd05509	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	84	cd05513	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	91	cd05499	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	91	cd05521	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	90	cd05518	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	92	cd05503	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	89	cd05495	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	101	cd05501	119943104,NP_004371
1387	116241283	Disease	p.Tyr1175Cys	VAR_037305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037305	rs28937315 Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	109	cd05507	119943104,NP_004371
1387	116241283	Disease	p.Glu1278Lys	VAR_035080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035080	- Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	367	COG5076	119943104,NP_004371
1387	116241283	Disease	p.Arg1378Pro	VAR_015578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015578	- Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	39	pfam08214	119943104,NP_004371
1387	116241283	Disease	p.Thr1447Ile	VAR_035081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035081	- Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	194	pfam08214	119943104,NP_004371
1387	116241283	Disease	p.Tyr1450His	VAR_035082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035082	- Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	197	pfam08214	119943104,NP_004371
1387	116241283	Disease	p.His1470Arg	VAR_035083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035083	- Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	327	pfam08214	119943104,NP_004371
1387	116241283	Disease	p.Arg1664His	VAR_035084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035084	- Rubinstein-Taybi syndrome (RSTS) [MIM:180849]	SWISS	No Domain	N/A	119943104,NP_004371
9244	44887813	Disease	p.Trp76Gly	VAR_033113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033113	- Crisponi syndrome [MIM:601378]	SWISS	No Domain	N/A	4758062,NP_004741
9244	44887813	Disease	p.Arg81His	VAR_017865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017865	- Cold-induced sweating syndrome type 1 (CISS1) [MIM:272430]	SWISS	No Domain	N/A	4758062,NP_004741
9244	44887813	Disease	p.Leu374Arg	VAR_017866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017866	- Cold-induced sweating syndrome type 1 (CISS1) [MIM:272430]	SWISS	No Domain	N/A	4758062,NP_004741
10491	17372894	Disease	p.Ala13Glu	VAR_063599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063599	- Osteogenesis imperfecta type 2B (OI2B) [MIM:610854]	SWISS	No Domain	N/A	5453601,NP_006362
10491	17372894	Disease	p.Leu67Pro	VAR_054442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054442	- Osteogenesis imperfecta type 7 (OI7) [MIM:610682]	SWISS	No Domain	N/A	5453601,NP_006362
10491	17372894	Disease	p.Lys157Glu	VAR_063600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063600	- Osteogenesis imperfecta type 2B (OI2B) [MIM:610854]	SWISS	No Domain	N/A	5453601,NP_006362
1406	3287764	Disease	p.Arg41Gln	VAR_007946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007946	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	53	COG5576	4557489,NP_000545
1406	3287764	Disease	p.Arg41Gln	VAR_007946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007946	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	2	cd00086	4557489,NP_000545
1406	3287764	Disease	p.Arg41Gln	VAR_007946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007946	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	2	smart00389	4557489,NP_000545
1406	3287764	Disease	p.Arg41Gln	VAR_007946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007946	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	2	pfam00046	4557489,NP_000545
1406	3287764	Disease	p.Arg41Trp	VAR_003750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003750	- Cone-rod dystrophy type 2 (CORD2) [MIM:120970]	SWISS	53	COG5576	4557489,NP_000545
1406	3287764	Disease	p.Arg41Trp	VAR_003750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003750	- Cone-rod dystrophy type 2 (CORD2) [MIM:120970]	SWISS	2	cd00086	4557489,NP_000545
1406	3287764	Disease	p.Arg41Trp	VAR_003750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003750	- Cone-rod dystrophy type 2 (CORD2) [MIM:120970]	SWISS	2	smart00389	4557489,NP_000545
1406	3287764	Disease	p.Arg41Trp	VAR_003750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003750	- Cone-rod dystrophy type 2 (CORD2) [MIM:120970]	SWISS	2	pfam00046	4557489,NP_000545
1406	3287764	Disease	p.Glu80Ala	VAR_003751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003751	rs28939682 Cone-rod dystrophy type 2 (CORD2) [MIM:120970]	SWISS	94	COG5576	4557489,NP_000545
1406	3287764	Disease	p.Glu80Ala	VAR_003751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003751	rs28939682 Cone-rod dystrophy type 2 (CORD2) [MIM:120970]	SWISS	73	cd00086	4557489,NP_000545
1406	3287764	Disease	p.Glu80Ala	VAR_003751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003751	rs28939682 Cone-rod dystrophy type 2 (CORD2) [MIM:120970]	SWISS	81	smart00389	4557489,NP_000545
1406	3287764	Disease	p.Glu80Ala	VAR_003751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003751	rs28939682 Cone-rod dystrophy type 2 (CORD2) [MIM:120970]	SWISS	51	pfam00046	4557489,NP_000545
1406	3287764	Disease	p.Arg90Trp	VAR_008714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008714	- Leber congenital amaurosis type 7 (LCA7) [MIM:602225]	SWISS	104	COG5576	4557489,NP_000545
1406	3287764	Disease	p.Arg90Trp	VAR_008714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008714	- Leber congenital amaurosis type 7 (LCA7) [MIM:602225]	SWISS	83	cd00086	4557489,NP_000545
1406	3287764	Disease	p.Arg90Trp	VAR_008714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008714	- Leber congenital amaurosis type 7 (LCA7) [MIM:602225]	SWISS	91	smart00389	4557489,NP_000545
1406	3287764	Disease	p.Arg90Trp	VAR_008714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008714	- Leber congenital amaurosis type 7 (LCA7) [MIM:602225]	SWISS	61	pfam00046	4557489,NP_000545
1406	3287764	Disease	p.Gly122Asp	VAR_008282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008282	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	147	COG5576	4557489,NP_000545
1406	3287764	Disease	p.Val242Met	VAR_007949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007949	- Cone-rod dystrophy type 2 (CORD2) [MIM:120970]	SWISS	129	pfam03529	4557489,NP_000545
1409	1706112	Disease	p.Arg49Cys	VAR_038375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038375	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	58	pfam00525	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	VAR_003819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003819	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	57	cd06497	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	VAR_003819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003819	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	57	cd06475	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	VAR_003819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003819	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	78	cd06526	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	VAR_003819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003819	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	54	cd06478	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	VAR_003819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003819	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	54	cd06477	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	VAR_003819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003819	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	142	cd06464	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	VAR_003819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003819	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	68	pfam00011	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	VAR_003819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003819	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	54	cd06498	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	VAR_003819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003819	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	153	cd00298	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	VAR_003819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003819	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	60	cd06481	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	VAR_003819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003819	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	55	cd06476	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	VAR_003819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003819	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	52	cd06479	4503055,NP_000385
1409	1706112	Disease	p.Arg116Cys	VAR_003819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003819	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	62	cd06480	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	VAR_046893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046893	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	57	cd06497	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	VAR_046893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046893	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	57	cd06475	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	VAR_046893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046893	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	78	cd06526	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	VAR_046893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046893	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	54	cd06478	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	VAR_046893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046893	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	54	cd06477	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	VAR_046893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046893	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	142	cd06464	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	VAR_046893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046893	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	68	pfam00011	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	VAR_046893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046893	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	54	cd06498	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	VAR_046893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046893	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	153	cd00298	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	VAR_046893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046893	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	60	cd06481	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	VAR_046893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046893	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	55	cd06476	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	VAR_046893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046893	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	52	cd06479	4503055,NP_000385
1409	1706112	Disease	p.Arg116His	VAR_046893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046893	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	62	cd06480	4503055,NP_000385
1410	117385	Disease	p.Arg120Gly	VAR_007899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007899	rs28929489 Myofibrillar alpha-B crystallin-related (MFM-CRYAB) [MIM:608810]	SWISS	62	cd06480	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	VAR_007899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007899	rs28929489 Myofibrillar alpha-B crystallin-related (MFM-CRYAB) [MIM:608810]	SWISS	151	COG0071	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	VAR_007899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007899	rs28929489 Myofibrillar alpha-B crystallin-related (MFM-CRYAB) [MIM:608810]	SWISS	54	cd06478	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	VAR_007899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007899	rs28929489 Myofibrillar alpha-B crystallin-related (MFM-CRYAB) [MIM:608810]	SWISS	54	cd06477	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	VAR_007899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007899	rs28929489 Myofibrillar alpha-B crystallin-related (MFM-CRYAB) [MIM:608810]	SWISS	142	cd06464	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	VAR_007899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007899	rs28929489 Myofibrillar alpha-B crystallin-related (MFM-CRYAB) [MIM:608810]	SWISS	68	pfam00011	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	VAR_007899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007899	rs28929489 Myofibrillar alpha-B crystallin-related (MFM-CRYAB) [MIM:608810]	SWISS	54	cd06498	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	VAR_007899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007899	rs28929489 Myofibrillar alpha-B crystallin-related (MFM-CRYAB) [MIM:608810]	SWISS	57	cd06497	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	VAR_007899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007899	rs28929489 Myofibrillar alpha-B crystallin-related (MFM-CRYAB) [MIM:608810]	SWISS	57	cd06475	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	VAR_007899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007899	rs28929489 Myofibrillar alpha-B crystallin-related (MFM-CRYAB) [MIM:608810]	SWISS	52	cd06479	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	VAR_007899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007899	rs28929489 Myofibrillar alpha-B crystallin-related (MFM-CRYAB) [MIM:608810]	SWISS	60	cd06481	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	VAR_007899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007899	rs28929489 Myofibrillar alpha-B crystallin-related (MFM-CRYAB) [MIM:608810]	SWISS	55	cd06476	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	VAR_007899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007899	rs28929489 Myofibrillar alpha-B crystallin-related (MFM-CRYAB) [MIM:608810]	SWISS	78	cd06526	4503057,NP_001876
1410	117385	Disease	p.Arg120Gly	VAR_007899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007899	rs28929489 Myofibrillar alpha-B crystallin-related (MFM-CRYAB) [MIM:608810]	SWISS	153	cd00298	4503057,NP_001876
1413	2506318	Disease	p.Leu69Pro	VAR_029528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029528	- Microphthalmia isolated with cataract type 4 (MCOPCT4) [MIM:610426]	SWISS	86	smart00247	4503059,NP_001877
1413	2506318	Disease	p.Leu69Pro	VAR_029528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029528	- Microphthalmia isolated with cataract type 4 (MCOPCT4) [MIM:610426]	SWISS	87	pfam00030	4503059,NP_001877
1413	2506318	Disease	p.Phe94Ser	VAR_029529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029529	- Cataract zonular type 2 (CZ2) [MIM:610425]	SWISS	143	smart00247	4503059,NP_001877
1413	2506318	Disease	p.Phe94Ser	VAR_029529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029529	- Cataract zonular type 2 (CZ2) [MIM:610425]	SWISS	143	pfam00030	4503059,NP_001877
1417	311033476	Disease	p.Gly165Arg	VAR_025280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025280	- Cataract congenital nuclear autosomal recessive type 2 (CATCN2) [MIM:609741]	SWISS	79	pfam00030	4758074,NP_004067
1417	311033476	Disease	p.Gly165Arg	VAR_025280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025280	- Cataract congenital nuclear autosomal recessive type 2 (CATCN2) [MIM:609741]	SWISS	77	smart00247	4758074,NP_004067
1420	117464	Disease	p.Thr5Pro	VAR_021142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021142	- Cataract Coppock-like (CCL) [MIM:604307]	SWISS	3	pfam00030	10518338,NP_066269
1420	117464	Disease	p.Thr5Pro	VAR_021142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021142	- Cataract Coppock-like (CCL) [MIM:604307]	SWISS	3	smart00247	10518338,NP_066269
1420	117464	Disease	p.Arg169Trp	VAR_021144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021144	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	145	smart00247	10518338,NP_066269
1420	117464	Disease	p.Arg169Trp	VAR_021144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021144	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	145	pfam00030	10518338,NP_066269
1421	2506321	Disease	p.Arg15Cys	VAR_010733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010733	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	16	smart00247	13377002,NP_008822
1421	2506321	Disease	p.Arg15Cys	VAR_010733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010733	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	16	pfam00030	13377002,NP_008822
1421	2506321	Disease	p.Pro24Ser	VAR_034955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034955	rs28931605 Cataract congenital non-nuclear polymorphic autosomal dominant (CCP) [MIM:601286]	SWISS	33	smart00247	13377002,NP_008822
1421	2506321	Disease	p.Pro24Ser	VAR_034955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034955	rs28931605 Cataract congenital non-nuclear polymorphic autosomal dominant (CCP) [MIM:601286]	SWISS	29	pfam00030	13377002,NP_008822
1421	2506321	Disease	p.Pro24Thr	VAR_021145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021145	- Cataract congenital cerulean type 3 (CCA3) [MIM:608983]	SWISS	33	smart00247	13377002,NP_008822
1421	2506321	Disease	p.Pro24Thr	VAR_021145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021145	- Cataract congenital cerulean type 3 (CCA3) [MIM:608983]	SWISS	29	pfam00030	13377002,NP_008822
1421	2506321	Disease	p.Arg59His	VAR_010735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010735	- Cataract crystalline aculeiform (CACA) [MIM:115700]	SWISS	87	smart00247	13377002,NP_008822
1421	2506321	Disease	p.Arg59His	VAR_010735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010735	- Cataract crystalline aculeiform (CACA) [MIM:115700]	SWISS	91	pfam00030	13377002,NP_008822
1421	2506321	Disease	p.Glu107Ala	VAR_034956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034956	- Cataract congenital non-nuclear polymorphic autosomal dominant (CCP) [MIM:601286]	SWISS	23	pfam00030	13377002,NP_008822
1421	2506321	Disease	p.Glu107Ala	VAR_034956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034956	- Cataract congenital non-nuclear polymorphic autosomal dominant (CCP) [MIM:601286]	SWISS	29	smart00247	13377002,NP_008822
1438	121509	Disease	p.Gly196Arg	VAR_058507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058507	- Pulmonary surfactant metabolism dysfunction type 4 (SMDP4) [MIM:300770]	SWISS	111	pfam09240	238908515,NP_001155001|27437032,NP_758448|20070195,NP_006131
1441	729564	Disease	p.Thr640Asn	VAR_063065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063065	- Hereditary neutrophilia (NEUTROPHILIA) [MIM:162830]	SWISS	No Domain	N/A	4503081,NP_000751
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	37	cd06625	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	40	cd05112	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	59	cd07855	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	47	cd05038	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	89	cd05580	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	42	cd05069	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	43	cd05034	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	42	cd05067	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	42	cd05073	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	88	cd05581	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	42	cd05612	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	38	cd07847	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	41_G	cd06623	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	43	cd08228	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	42	cd05071	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	43	cd08229	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	38	cd07837	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	45_G	cd06609	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	67	cd05573	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	204	COG0515	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	44	cd05148	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	67	cd07830	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	67	pfam07714	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	47	pfam00069	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	135	smart00219	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	58	cd07840	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	33_G	cd07829	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	38	cd05118	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	42	cd07835	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	55	cd07831	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	173	smart00221	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	33_G	cd07838	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	39	cd06629	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	62	cd06614	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	37	cd05123	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	70	cd00180	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	77	cd05572	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	37	cd05115	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	39	cd06630	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	39	cd06627	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	50	cd06606	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	66	cd07834	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	39	cd07832	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	57	cd05122	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	59	cd08215	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	37	cd06632	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	39	cd06626	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	41	cd08220	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	35_G	cd05578	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	37	cd07841	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	37	cd06628	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	45	cd08528	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	38	cd05605	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	55	cd07851	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	42	cd05068	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	38_G	cd07845	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	44	cd05052	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	37_G	cd07843	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	47	cd07864	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	94	smart00220	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	79	cd00192	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	35	cd05593	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	34	cd05116	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	34	cd05060	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	31	cd05085	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	31	cd05084	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	31	cd05041	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	34	cd05040	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	40	cd06613	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	42	cd05070	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	47	cd06612	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	48	cd05080	20149530,NP_001884
1453	27923980	Disease	p.Thr44Ala	VAR_029075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029075	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	46	cd07866	20149530,NP_001884
8048	1705933	Disease	p.Trp4Arg	VAR_015401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015401	rs45550635 Cardiomyopathy dilated type 1M (CMD1M) [MIM:607482]	SWISS	No Domain	N/A	189083753,NP_001121128|4502893,NP_003467
8048	1705933	Disease	p.Leu44Pro	VAR_045932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045932	- Cardiomyopathy familial hypertrophic type 12 (CMH12) [MIM:612124]	SWISS	55	smart00132	189083753,NP_001121128|4502893,NP_003467
8048	1705933	Disease	p.Leu44Pro	VAR_045932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045932	- Cardiomyopathy familial hypertrophic type 12 (CMH12) [MIM:612124]	SWISS	40	pfam00412	189083753,NP_001121128|4502893,NP_003467
8048	1705933	Disease	p.Cys58Gly	VAR_045934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045934	- Cardiomyopathy familial hypertrophic type 12 (CMH12) [MIM:612124]	SWISS	62	pfam00412	189083753,NP_001121128|4502893,NP_003467
1471	118183	Disease	p.Leu94Gln	VAR_002207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002207	rs28939068 Amyloidosis type 6 (AMYL6) [MIM:105150]	SWISS	83	smart00043	4503107,NP_000090
1471	118183	Disease	p.Leu94Gln	VAR_002207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002207	rs28939068 Amyloidosis type 6 (AMYL6) [MIM:105150]	SWISS	63	pfam00031	4503107,NP_000090
1471	118183	Disease	p.Leu94Gln	VAR_002207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002207	rs28939068 Amyloidosis type 6 (AMYL6) [MIM:105150]	SWISS	76	cd00042	4503107,NP_000090
1476	1706278	Disease	p.Gly4Arg	VAR_002206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002206	- Progressive myoclonic epilepsy type 1 (EPM1) [MIM:254800]	SWISS	4	smart00043	4503117,NP_000091
1499	461854	Disease	p.Asp32Gly	VAR_017615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017615	- Pilomatrixoma (PTR) [MIM:132600]	SWISS	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Asp32Tyr	VAR_017616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017616	rs28931588 Pilomatrixoma (PTR) [MIM:132600]	SWISS	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Ser33Phe	VAR_017617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017617	- Pilomatrixoma (PTR) [MIM:132600]	SWISS	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Ser33Tyr	VAR_017619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017619	- Pilomatrixoma (PTR) [MIM:132600]	SWISS	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Gly34Glu	VAR_017620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017620	- Pilomatrixoma (PTR) [MIM:132600]	SWISS	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Ser37Cys	VAR_017625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017625	- Pilomatrixoma (PTR) [MIM:132600]	SWISS	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Ser37Phe	VAR_017626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017626	- Pilomatrixoma (PTR) [MIM:132600]	SWISS	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1499	461854	Disease	p.Thr41Ile	VAR_017630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017630	- Pilomatrixoma (PTR) [MIM:132600]	SWISS	No Domain	N/A	148233338,NP_001091679|148227672,NP_001091680|4503131,NP_001895
1497	269849555	Disease	p.Val42Ile	VAR_010285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010285	rs35086888 Cystinosis [MIM:219800, 219900, 219750]	SWISS	No Domain	N/A	119943110,NP_004928
1497	269849555	Disease	p.Gly110Val	VAR_037318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037318	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	No Domain	N/A	119943110,NP_004928
1497	269849555	Disease	p.Ile133Phe	VAR_010677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010677	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	8	pfam04193	119943110,NP_004928
1497	269849555	Disease	p.Ser139Phe	VAR_010678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010678	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	14	pfam04193	119943110,NP_004928
1497	269849555	Disease	p.Leu158Pro	VAR_010680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010680	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	20	smart00679	119943110,NP_004928
1497	269849555	Disease	p.Leu158Pro	VAR_010680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010680	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	35	pfam04193	119943110,NP_004928
1497	269849555	Disease	p.Gly169Asp	VAR_010286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010286	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	31	smart00679	119943110,NP_004928
1497	269849555	Disease	p.Gly169Asp	VAR_010286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010286	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	46	pfam04193	119943110,NP_004928
1497	269849555	Disease	p.Asn177Thr	VAR_037319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037319	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	54	pfam04193	119943110,NP_004928
1497	269849555	Disease	p.Trp182Arg	VAR_010681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010681	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	59	pfam04193	119943110,NP_004928
1497	269849555	Disease	p.Gly197Arg	VAR_010682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010682	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	No Domain	N/A	119943110,NP_004928
1497	269849555	Disease	p.Pro200Leu	VAR_037320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037320	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	No Domain	N/A	119943110,NP_004928
1497	269849555	Disease	p.Asp205Asn	VAR_010683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010683	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	No Domain	N/A	119943110,NP_004928
1497	269849555	Disease	p.Gln222Arg	VAR_037321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037321	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	No Domain	N/A	119943110,NP_004928
1497	269849555	Disease	p.Lys280Arg	VAR_010287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010287	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	16	pfam04193	119943110,NP_004928
1497	269849555	Disease	p.Lys280Arg	VAR_010287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010287	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	2	smart00679	119943110,NP_004928
1497	269849555	Disease	p.Asn288Lys	VAR_037322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037322	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	24	pfam04193	119943110,NP_004928
1497	269849555	Disease	p.Asn288Lys	VAR_037322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037322	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	10	smart00679	119943110,NP_004928
1497	269849555	Disease	p.Lys292Arg	VAR_012314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012314	rs1800527 Cystinosis [MIM:219800, 219900, 219750]	SWISS	28	pfam04193	119943110,NP_004928
1497	269849555	Disease	p.Lys292Arg	VAR_012314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012314	rs1800527 Cystinosis [MIM:219800, 219900, 219750]	SWISS	14	smart00679	119943110,NP_004928
1497	269849555	Disease	p.Ser298Asn	VAR_012315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012315	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	36	pfam04193	119943110,NP_004928
1497	269849555	Disease	p.Ser298Asn	VAR_012315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012315	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	21	smart00679	119943110,NP_004928
1497	269849555	Disease	p.Asp305Gly	VAR_010690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010690	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	43	pfam04193	119943110,NP_004928
1497	269849555	Disease	p.Asp305Gly	VAR_010690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010690	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	28	smart00679	119943110,NP_004928
1497	269849555	Disease	p.Asp305Tyr	VAR_010691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010691	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	43	pfam04193	119943110,NP_004928
1497	269849555	Disease	p.Asp305Tyr	VAR_010691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010691	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	28	smart00679	119943110,NP_004928
1497	269849555	Disease	p.Gly308Arg	VAR_010692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010692	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	46	pfam04193	119943110,NP_004928
1497	269849555	Disease	p.Gly308Arg	VAR_010692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010692	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	31	smart00679	119943110,NP_004928
1497	269849555	Disease	p.Asn323Lys	VAR_010288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010288	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	61	pfam04193	119943110,NP_004928
1497	269849555	Disease	p.Leu338Pro	VAR_010694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010694	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	No Domain	N/A	119943110,NP_004928
1497	269849555	Disease	p.Gly339Arg	VAR_010695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010695	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	No Domain	N/A	119943110,NP_004928
1497	269849555	Disease	p.Asp346Asn	VAR_010698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010698	- Cystinosis [MIM:219800, 219900, 219750]	SWISS	No Domain	N/A	119943110,NP_004928
5476	20178316	Disease	p.Gln49Arg	VAR_001385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001385	- Galactosialidosis (GSL) [MIM:256540]	SWISS	20	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Gln49Arg	VAR_001385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001385	- Galactosialidosis (GSL) [MIM:256540]	SWISS	107	COG2939	189163485,NP_001121167
5476	20178316	Disease	p.Ser51Tyr	VAR_063018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063018	- Galactosialidosis (GSL) [MIM:256540]	SWISS	22	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Ser51Tyr	VAR_063018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063018	- Galactosialidosis (GSL) [MIM:256540]	SWISS	109	COG2939	189163485,NP_001121167
5476	20178316	Disease	p.Trp65Arg	VAR_001386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001386	rs28934603 Galactosialidosis (GSL) [MIM:256540]	SWISS	47	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Trp65Arg	VAR_001386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001386	rs28934603 Galactosialidosis (GSL) [MIM:256540]	SWISS	129	COG2939	189163485,NP_001121167
5476	20178316	Disease	p.Ser90Leu	VAR_001387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001387	- Galactosialidosis (GSL) [MIM:256540]	SWISS	81	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Ser90Leu	VAR_001387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001387	- Galactosialidosis (GSL) [MIM:256540]	SWISS	158	COG2939	189163485,NP_001121167
5476	20178316	Disease	p.Val132Met	VAR_063019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063019	- Galactosialidosis (GSL) [MIM:256540]	SWISS	130	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Val132Met	VAR_063019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063019	- Galactosialidosis (GSL) [MIM:256540]	SWISS	210	COG2939	189163485,NP_001121167
5476	20178316	Disease	p.Leu236Pro	VAR_063020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063020	- Galactosialidosis (GSL) [MIM:256540]	SWISS	306	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Leu236Pro	VAR_063020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063020	- Galactosialidosis (GSL) [MIM:256540]	SWISS	342	COG2939	189163485,NP_001121167
5476	20178316	Disease	p.Tyr249Asn	VAR_001388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001388	- Galactosialidosis (GSL) [MIM:256540]	SWISS	367	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Tyr249Asn	VAR_001388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001388	- Galactosialidosis (GSL) [MIM:256540]	SWISS	356	COG2939	189163485,NP_001121167
5476	20178316	Disease	p.Tyr395Cys	VAR_001389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001389	- Galactosialidosis (GSL) [MIM:256540]	SWISS	609	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Tyr395Cys	VAR_001389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001389	- Galactosialidosis (GSL) [MIM:256540]	SWISS	499	COG2939	189163485,NP_001121167
5476	20178316	Disease	p.Met406Thr	VAR_063021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063021	- Galactosialidosis (GSL) [MIM:256540]	SWISS	620	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Met406Thr	VAR_063021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063021	- Galactosialidosis (GSL) [MIM:256540]	SWISS	520	COG2939	189163485,NP_001121167
5476	20178316	Disease	p.Gly439Ser	VAR_063022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063022	- Galactosialidosis (GSL) [MIM:256540]	SWISS	684	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Gly439Ser	VAR_063022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063022	- Galactosialidosis (GSL) [MIM:256540]	SWISS	561	COG2939	189163485,NP_001121167
5476	20178316	Disease	p.Phe440Val	VAR_001390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001390	- Galactosialidosis (GSL) [MIM:256540]	SWISS	685	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Phe440Val	VAR_001390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001390	- Galactosialidosis (GSL) [MIM:256540]	SWISS	562	COG2939	189163485,NP_001121167
5476	20178316	Disease	p.Lys453Glu	VAR_063023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063023	- Galactosialidosis (GSL) [MIM:256540]	SWISS	708	pfam00450	189163485,NP_001121167
5476	20178316	Disease	p.Lys453Glu	VAR_063023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063023	- Galactosialidosis (GSL) [MIM:256540]	SWISS	575	COG2939	189163485,NP_001121167
1075	1705632	Disease	p.Trp39Ser	VAR_016933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016933	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	15	pfam08773	189083844,NP_001805
1075	1705632	Disease	p.His127Pro	VAR_016934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016934	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	106	pfam08773	189083844,NP_001805
1075	1705632	Disease	p.His127Pro	VAR_016934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016934	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	6	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Val129Glu	VAR_019036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019036	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	108	pfam08773	189083844,NP_001805
1075	1705632	Disease	p.Val129Glu	VAR_019036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019036	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	8	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Gly139Arg	VAR_019037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019037	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	118	pfam08773	189083844,NP_001805
1075	1705632	Disease	p.Gly139Arg	VAR_019037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019037	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	20	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Asp236Tyr	VAR_019038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019038	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	6	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Asp236Tyr	VAR_019038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019038	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	8	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Asp236Tyr	VAR_019038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019038	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	6	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Asp236Tyr	VAR_019038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019038	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	6	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Asp236Tyr	VAR_019038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019038	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	3	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Asp236Tyr	VAR_019038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019038	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	5	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Asp236Tyr	VAR_019038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019038	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	5	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Asp236Tyr	VAR_019038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019038	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	149	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Val249Phe	VAR_009541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009541	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	21	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Val249Phe	VAR_009541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009541	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	29	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Val249Phe	VAR_009541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009541	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	19	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Val249Phe	VAR_009541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009541	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	21	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Val249Phe	VAR_009541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009541	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	19	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Val249Phe	VAR_009541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009541	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	32	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Val249Phe	VAR_009541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009541	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	20	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Val249Phe	VAR_009541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009541	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	159	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Gln252Leu	VAR_009542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009542	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	24	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Gln252Leu	VAR_009542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009542	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	33	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Gln252Leu	VAR_009542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009542	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	22	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Gln252Leu	VAR_009542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009542	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	24	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Gln252Leu	VAR_009542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009542	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	22	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Gln252Leu	VAR_009542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009542	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	35	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Gln252Leu	VAR_009542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009542	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	23	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Gln252Leu	VAR_009542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009542	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	162	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Arg272His	VAR_019039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019039	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	47	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Arg272His	VAR_019039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019039	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	56	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Arg272His	VAR_019039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019039	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	45	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Arg272His	VAR_019039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019039	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	45	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Arg272His	VAR_019039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019039	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	45	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Arg272His	VAR_019039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019039	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	58	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Arg272His	VAR_019039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019039	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	43	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Arg272His	VAR_019039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019039	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	179_G	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Arg272Pro	VAR_009543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009543	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	47	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Arg272Pro	VAR_009543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009543	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	56	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Arg272Pro	VAR_009543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009543	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	45	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Arg272Pro	VAR_009543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009543	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	45	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Arg272Pro	VAR_009543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009543	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	45	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Arg272Pro	VAR_009543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009543	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	58	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Arg272Pro	VAR_009543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009543	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	43	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Arg272Pro	VAR_009543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009543	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	179_G	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	VAR_016935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016935	- Haim-Munk syndrome (HMS) [MIM:245010]	SWISS	64	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	VAR_016935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016935	- Haim-Munk syndrome (HMS) [MIM:245010]	SWISS	98	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	VAR_016935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016935	- Haim-Munk syndrome (HMS) [MIM:245010]	SWISS	61	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	VAR_016935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016935	- Haim-Munk syndrome (HMS) [MIM:245010]	SWISS	67	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	VAR_016935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016935	- Haim-Munk syndrome (HMS) [MIM:245010]	SWISS	73	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	VAR_016935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016935	- Haim-Munk syndrome (HMS) [MIM:245010]	SWISS	132	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	VAR_016935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016935	- Haim-Munk syndrome (HMS) [MIM:245010]	SWISS	58	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	VAR_016935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016935	- Haim-Munk syndrome (HMS) [MIM:245010]	SWISS	195	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	VAR_016935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016935	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	64	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	VAR_016935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016935	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	98	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	VAR_016935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016935	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	61	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	VAR_016935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016935	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	67	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	VAR_016935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016935	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	73	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	VAR_016935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016935	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	132	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	VAR_016935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016935	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	58	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Gln286Arg	VAR_016935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016935	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	195	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Cys291Tyr	VAR_019040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019040	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	69	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Cys291Tyr	VAR_019040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019040	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	103	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Cys291Tyr	VAR_019040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019040	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	66	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Cys291Tyr	VAR_019040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019040	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	72	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Cys291Tyr	VAR_019040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019040	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	78	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Cys291Tyr	VAR_019040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019040	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	137	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Cys291Tyr	VAR_019040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019040	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	63	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Cys291Tyr	VAR_019040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019040	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	200	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Tyr294His	VAR_039686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039686	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	75	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Tyr294His	VAR_039686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039686	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	106	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Tyr294His	VAR_039686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039686	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	69	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Tyr294His	VAR_039686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039686	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	75	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Tyr294His	VAR_039686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039686	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	81	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Tyr294His	VAR_039686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039686	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	140	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Tyr294His	VAR_039686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039686	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	66	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Tyr294His	VAR_039686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039686	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	203	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Gly300Asp	VAR_019041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019041	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	91	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Gly300Asp	VAR_019041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019041	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	134	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Gly300Asp	VAR_019041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019041	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	76	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Gly300Asp	VAR_019041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019041	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	81	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Gly300Asp	VAR_019041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019041	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	115	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Gly300Asp	VAR_019041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019041	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	156	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Gly300Asp	VAR_019041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019041	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	81	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Gly300Asp	VAR_019041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019041	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	206	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Gly300Ser	VAR_019042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019042	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	91	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Gly300Ser	VAR_019042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019042	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	134	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Gly300Ser	VAR_019042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019042	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	76	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Gly300Ser	VAR_019042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019042	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	81	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Gly300Ser	VAR_019042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019042	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	115	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Gly300Ser	VAR_019042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019042	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	156	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Gly300Ser	VAR_019042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019042	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	81	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Gly300Ser	VAR_019042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019042	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	206	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Gly301Ser	VAR_009544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009544	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	93	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Gly301Ser	VAR_009544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009544	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	136	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Gly301Ser	VAR_009544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009544	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	77	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Gly301Ser	VAR_009544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009544	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	82	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Gly301Ser	VAR_009544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009544	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	116	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Gly301Ser	VAR_009544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009544	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	157	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Gly301Ser	VAR_009544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009544	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	82	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Gly301Ser	VAR_009544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009544	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	207	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Gly301Val	VAR_019043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019043	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	93	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Gly301Val	VAR_019043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019043	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	136	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Gly301Val	VAR_019043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019043	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	77	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Gly301Val	VAR_019043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019043	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	82	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Gly301Val	VAR_019043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019043	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	116	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Gly301Val	VAR_019043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019043	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	157	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Gly301Val	VAR_019043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019043	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	82	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Gly301Val	VAR_019043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019043	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	207	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Tyr304Asn	VAR_019044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019044	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	96	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Tyr304Asn	VAR_019044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019044	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	139	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Tyr304Asn	VAR_019044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019044	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	79_G	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Tyr304Asn	VAR_019044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019044	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	85	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Tyr304Asn	VAR_019044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019044	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	119	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Tyr304Asn	VAR_019044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019044	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	160	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Tyr304Asn	VAR_019044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019044	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	84_G	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Tyr304Asn	VAR_019044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019044	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	210	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Gln312Arg	VAR_019045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019045	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	103	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Gln312Arg	VAR_019045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019045	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	147	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Gln312Arg	VAR_019045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019045	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	87	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Gln312Arg	VAR_019045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019045	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	93	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Gln312Arg	VAR_019045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019045	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	131	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Gln312Arg	VAR_019045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019045	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	189	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Gln312Arg	VAR_019045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019045	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	92	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Gln312Arg	VAR_019045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019045	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	228	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Glu319Gly	VAR_019046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019046	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	114	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Glu319Gly	VAR_019046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019046	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	169	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Glu319Gly	VAR_019046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019046	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	99	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Glu319Gly	VAR_019046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019046	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	100	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Glu319Gly	VAR_019046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019046	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	138	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Glu319Gly	VAR_019046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019046	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	196	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Glu319Gly	VAR_019046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019046	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	101	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Glu319Gly	VAR_019046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019046	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	235	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Arg339Cys	VAR_009545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009545	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	170	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Arg339Cys	VAR_009545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009545	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	203	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Arg339Cys	VAR_009545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009545	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	152	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Arg339Cys	VAR_009545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009545	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	181	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Arg339Cys	VAR_009545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009545	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	256	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Arg339Cys	VAR_009545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009545	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	326	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Arg339Cys	VAR_009545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009545	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	151	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Arg339Cys	VAR_009545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009545	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	252	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Tyr340Cys	VAR_016944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016944	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	171	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Tyr340Cys	VAR_016944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016944	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	204	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Tyr340Cys	VAR_016944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016944	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	153	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Tyr340Cys	VAR_016944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016944	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	182	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Tyr340Cys	VAR_016944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016944	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	257	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Tyr340Cys	VAR_016944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016944	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	327	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Tyr340Cys	VAR_016944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016944	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	152	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Tyr340Cys	VAR_016944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016944	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	253	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	VAR_009546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009546	- Aggressive periodontititis type 1 (AP1) [MIM:170650]	SWISS	178	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	VAR_009546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009546	- Aggressive periodontititis type 1 (AP1) [MIM:170650]	SWISS	211	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	VAR_009546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009546	- Aggressive periodontititis type 1 (AP1) [MIM:170650]	SWISS	160	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	VAR_009546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009546	- Aggressive periodontititis type 1 (AP1) [MIM:170650]	SWISS	189	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	VAR_009546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009546	- Aggressive periodontititis type 1 (AP1) [MIM:170650]	SWISS	264	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	VAR_009546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009546	- Aggressive periodontititis type 1 (AP1) [MIM:170650]	SWISS	334	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	VAR_009546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009546	- Aggressive periodontititis type 1 (AP1) [MIM:170650]	SWISS	171	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	VAR_009546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009546	- Aggressive periodontititis type 1 (AP1) [MIM:170650]	SWISS	262	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	VAR_009546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009546	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	178	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	VAR_009546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009546	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	211	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	VAR_009546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009546	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	160	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	VAR_009546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009546	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	189	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	VAR_009546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009546	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	264	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	VAR_009546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009546	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	334	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	VAR_009546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009546	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	171	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Tyr347Cys	VAR_009546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009546	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	262	COG4870	189083844,NP_001805
1075	1705632	Disease	p.His405Asn	VAR_027249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027249	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	265	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.His405Asn	VAR_027249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027249	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	362	smart00645	189083844,NP_001805
1075	1705632	Disease	p.His405Asn	VAR_027249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027249	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	208	cd02698	189083844,NP_001805
1075	1705632	Disease	p.His405Asn	VAR_027249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027249	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	275	cd02621	189083844,NP_001805
1075	1705632	Disease	p.His405Asn	VAR_027249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027249	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	436	cd02619	189083844,NP_001805
1075	1705632	Disease	p.His405Asn	VAR_027249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027249	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	452	cd02248	189083844,NP_001805
1075	1705632	Disease	p.His405Asn	VAR_027249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027249	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	267	cd02620	189083844,NP_001805
1075	1705632	Disease	p.His405Asn	VAR_027249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027249	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	319	COG4870	189083844,NP_001805
1075	1705632	Disease	p.His405Arg	VAR_027250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027250	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	265	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.His405Arg	VAR_027250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027250	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	362	smart00645	189083844,NP_001805
1075	1705632	Disease	p.His405Arg	VAR_027250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027250	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	208	cd02698	189083844,NP_001805
1075	1705632	Disease	p.His405Arg	VAR_027250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027250	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	275	cd02621	189083844,NP_001805
1075	1705632	Disease	p.His405Arg	VAR_027250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027250	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	436	cd02619	189083844,NP_001805
1075	1705632	Disease	p.His405Arg	VAR_027250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027250	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	452	cd02248	189083844,NP_001805
1075	1705632	Disease	p.His405Arg	VAR_027250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027250	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	267	cd02620	189083844,NP_001805
1075	1705632	Disease	p.His405Arg	VAR_027250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027250	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	319	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Tyr412Cys	VAR_019047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019047	rs28937571 Aggressive periodontititis type 1 (AP1) [MIM:170650]	SWISS	272	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Tyr412Cys	VAR_019047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019047	rs28937571 Aggressive periodontititis type 1 (AP1) [MIM:170650]	SWISS	369	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Tyr412Cys	VAR_019047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019047	rs28937571 Aggressive periodontititis type 1 (AP1) [MIM:170650]	SWISS	215	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Tyr412Cys	VAR_019047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019047	rs28937571 Aggressive periodontititis type 1 (AP1) [MIM:170650]	SWISS	282	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Tyr412Cys	VAR_019047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019047	rs28937571 Aggressive periodontititis type 1 (AP1) [MIM:170650]	SWISS	443	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Tyr412Cys	VAR_019047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019047	rs28937571 Aggressive periodontititis type 1 (AP1) [MIM:170650]	SWISS	459	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Tyr412Cys	VAR_019047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019047	rs28937571 Aggressive periodontititis type 1 (AP1) [MIM:170650]	SWISS	274	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Tyr412Cys	VAR_019047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019047	rs28937571 Aggressive periodontititis type 1 (AP1) [MIM:170650]	SWISS	326	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Trp429Cys	VAR_016936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016936	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	324	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Trp429Cys	VAR_016936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016936	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	614	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Trp429Cys	VAR_016936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016936	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	235	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Trp429Cys	VAR_016936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016936	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	318	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Trp429Cys	VAR_016936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016936	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	498	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Trp429Cys	VAR_016936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016936	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	511	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Trp429Cys	VAR_016936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016936	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	294	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Trp429Cys	VAR_016936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016936	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	351	COG4870	189083844,NP_001805
1075	1705632	Disease	p.Glu447Gly	VAR_019048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019048	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	353	pfam00112	189083844,NP_001805
1075	1705632	Disease	p.Glu447Gly	VAR_019048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019048	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	658	smart00645	189083844,NP_001805
1075	1705632	Disease	p.Glu447Gly	VAR_019048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019048	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	261	cd02698	189083844,NP_001805
1075	1705632	Disease	p.Glu447Gly	VAR_019048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019048	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	338	cd02621	189083844,NP_001805
1075	1705632	Disease	p.Glu447Gly	VAR_019048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019048	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	526	cd02619	189083844,NP_001805
1075	1705632	Disease	p.Glu447Gly	VAR_019048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019048	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	567	cd02248	189083844,NP_001805
1075	1705632	Disease	p.Glu447Gly	VAR_019048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019048	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	314	cd02620	189083844,NP_001805
1075	1705632	Disease	p.Glu447Gly	VAR_019048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019048	- Papillon-Lefevre syndrome (PLS) [MIM:245000]	SWISS	391	COG4870	189083844,NP_001805
1509	115717	Disease	p.Phe229Ile	VAR_029362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029362	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	148	cd05488	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	VAR_029362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029362	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	147	cd05487	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	VAR_029362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029362	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	149	cd06098	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	VAR_029362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029362	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	151	cd05485	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	VAR_029362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029362	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	188	pfam00026	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	VAR_029362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029362	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	171	cd05475	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	VAR_029362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029362	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	216	cd05476	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	VAR_029362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029362	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	176	cd05472	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	VAR_029362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029362	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	178	cd06097	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	VAR_029362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029362	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	138	cd05486	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	VAR_029362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029362	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	337	cd05471	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	VAR_029362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029362	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	141	cd05473	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	VAR_029362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029362	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	148	cd05478	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	VAR_029362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029362	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	342	cd05474	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	VAR_029362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029362	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	157	cd05490	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	VAR_029362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029362	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	202	cd06096	4503143,NP_001900
1509	115717	Disease	p.Phe229Ile	VAR_029362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029362	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	141	cd05477	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	VAR_029363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029363	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	306	cd05488	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	VAR_029363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029363	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	304	cd05487	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	VAR_029363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029363	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	413	cd06098	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	VAR_029363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029363	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	315	cd05485	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	VAR_029363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029363	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	484	pfam00026	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	VAR_029363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029363	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	364	cd05475	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	VAR_029363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029363	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	588	cd05476	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	VAR_029363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029363	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	370_G	cd05472	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	VAR_029363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029363	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	422	cd06097	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	VAR_029363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029363	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	291	cd05486	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	VAR_029363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029363	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	875	cd05471	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	VAR_029363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029363	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	353_G	cd05473	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	VAR_029363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029363	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	297	cd05478	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	VAR_029363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029363	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	601	cd05474	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	VAR_029363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029363	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	311	cd05490	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	VAR_029363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029363	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	566_G	cd06096	4503143,NP_001900
1509	115717	Disease	p.Trp383Cys	VAR_029363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029363	- Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]	SWISS	293	cd05477	4503143,NP_001900
1513	1168793	Disease	p.Gly79Glu	VAR_015738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015738	- Pycnodysostosis (PKND) [MIM:265800]	SWISS	92	COG4870	4503151,NP_000387
1513	1168793	Disease	p.Gly79Glu	VAR_015738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015738	- Pycnodysostosis (PKND) [MIM:265800]	SWISS	162	smart00848	4503151,NP_000387
1513	1168793	Disease	p.Gly79Glu	VAR_015738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015738	- Pycnodysostosis (PKND) [MIM:265800]	SWISS	132	pfam08246	4503151,NP_000387
1513	1168793	Disease	p.Gly146Arg	VAR_006725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006725	- Pycnodysostosis (PKND) [MIM:265800]	SWISS	175	COG4870	4503151,NP_000387
1513	1168793	Disease	p.Gly146Arg	VAR_006725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006725	- Pycnodysostosis (PKND) [MIM:265800]	SWISS	51	cd02248	4503151,NP_000387
1513	1168793	Disease	p.Gly146Arg	VAR_006725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006725	- Pycnodysostosis (PKND) [MIM:265800]	SWISS	36	cd02620	4503151,NP_000387
1513	1168793	Disease	p.Gly146Arg	VAR_006725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006725	- Pycnodysostosis (PKND) [MIM:265800]	SWISS	38	cd02619	4503151,NP_000387
1513	1168793	Disease	p.Gly146Arg	VAR_006725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006725	- Pycnodysostosis (PKND) [MIM:265800]	SWISS	49	smart00645	4503151,NP_000387
1513	1168793	Disease	p.Gly146Arg	VAR_006725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006725	- Pycnodysostosis (PKND) [MIM:265800]	SWISS	38	cd02698	4503151,NP_000387
1513	1168793	Disease	p.Gly146Arg	VAR_006725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006725	- Pycnodysostosis (PKND) [MIM:265800]	SWISS	40	pfam00112	4503151,NP_000387
1513	1168793	Disease	p.Gly146Arg	VAR_006725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006725	- Pycnodysostosis (PKND) [MIM:265800]	SWISS	38	cd02621	4503151,NP_000387
1513	1168793	Disease	p.Ala277Val	VAR_015739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015739	- Pycnodysostosis (PKND) [MIM:265800]	SWISS	320	COG4870	4503151,NP_000387
1513	1168793	Disease	p.Ala277Val	VAR_015739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015739	- Pycnodysostosis (PKND) [MIM:265800]	SWISS	453	cd02248	4503151,NP_000387
1513	1168793	Disease	p.Ala277Val	VAR_015739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015739	- Pycnodysostosis (PKND) [MIM:265800]	SWISS	268	cd02620	4503151,NP_000387
1513	1168793	Disease	p.Ala277Val	VAR_015739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015739	- Pycnodysostosis (PKND) [MIM:265800]	SWISS	437	cd02619	4503151,NP_000387
1513	1168793	Disease	p.Ala277Val	VAR_015739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015739	- Pycnodysostosis (PKND) [MIM:265800]	SWISS	363	smart00645	4503151,NP_000387
1513	1168793	Disease	p.Ala277Val	VAR_015739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015739	- Pycnodysostosis (PKND) [MIM:265800]	SWISS	209	cd02698	4503151,NP_000387
1513	1168793	Disease	p.Ala277Val	VAR_015739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015739	- Pycnodysostosis (PKND) [MIM:265800]	SWISS	266	pfam00112	4503151,NP_000387
1513	1168793	Disease	p.Ala277Val	VAR_015739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015739	- Pycnodysostosis (PKND) [MIM:265800]	SWISS	276	cd02621	4503151,NP_000387
1513	1168793	Disease	p.Leu309Pro	VAR_006726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006726	rs29001685 Pycnodysostosis (PKND) [MIM:265800]	SWISS	364	COG4870	4503151,NP_000387
1513	1168793	Disease	p.Leu309Pro	VAR_006726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006726	rs29001685 Pycnodysostosis (PKND) [MIM:265800]	SWISS	550	cd02248	4503151,NP_000387
1513	1168793	Disease	p.Leu309Pro	VAR_006726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006726	rs29001685 Pycnodysostosis (PKND) [MIM:265800]	SWISS	306	cd02620	4503151,NP_000387
1513	1168793	Disease	p.Leu309Pro	VAR_006726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006726	rs29001685 Pycnodysostosis (PKND) [MIM:265800]	SWISS	519	cd02619	4503151,NP_000387
1513	1168793	Disease	p.Leu309Pro	VAR_006726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006726	rs29001685 Pycnodysostosis (PKND) [MIM:265800]	SWISS	633	smart00645	4503151,NP_000387
1513	1168793	Disease	p.Leu309Pro	VAR_006726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006726	rs29001685 Pycnodysostosis (PKND) [MIM:265800]	SWISS	246	cd02698	4503151,NP_000387
1513	1168793	Disease	p.Leu309Pro	VAR_006726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006726	rs29001685 Pycnodysostosis (PKND) [MIM:265800]	SWISS	337	pfam00112	4503151,NP_000387
1513	1168793	Disease	p.Leu309Pro	VAR_006726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006726	rs29001685 Pycnodysostosis (PKND) [MIM:265800]	SWISS	331	cd02621	4503151,NP_000387
8029	311033498	Disease	p.Pro1297Leu	VAR_025288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025288	rs28939699 Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]	SWISS	9	smart00042	126091152,NP_001072
8029	311033498	Disease	p.Pro1297Leu	VAR_025288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025288	rs28939699 Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]	SWISS	28	cd00041	126091152,NP_001072
8029	311033498	Disease	p.Pro1297Leu	VAR_025288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025288	rs28939699 Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]	SWISS	23	pfam00431	126091152,NP_001072
8450	296439468	Disease	p.Thr213Ile	VAR_032273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032273	- Mental retardation syndromic X-linked Cabezas type (MRXC) [MIM:300354]	SWISS	20	COG5647	121114298,NP_003579
8450	296439468	Disease	p.Arg572Cys	VAR_032274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032274	- Mental retardation syndromic X-linked Cabezas type (MRXC) [MIM:300354]	SWISS	653	pfam00888	121114298,NP_003579
8450	296439468	Disease	p.Arg572Cys	VAR_032274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032274	- Mental retardation syndromic X-linked Cabezas type (MRXC) [MIM:300354]	SWISS	477	COG5647	121114298,NP_003579
8450	296439468	Disease	p.Val745Ala	VAR_032275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032275	- Mental retardation syndromic X-linked Cabezas type (MRXC) [MIM:300354]	SWISS	1006	pfam00888	121114298,NP_003579
8450	296439468	Disease	p.Val745Ala	VAR_032275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032275	- Mental retardation syndromic X-linked Cabezas type (MRXC) [MIM:300354]	SWISS	660	COG5647	121114298,NP_003579
9820	160370003	Disease	p.Leu1014Arg	VAR_026122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026122	- 3M syndrome type 1 (3M1) [MIM:273750]	SWISS	No Domain	N/A	41872646,NP_055595
9820	160370003	Disease	p.Gln1246Gly	VAR_026123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026123	- 3M syndrome type 1 (3M1) [MIM:273750]	SWISS	689	pfam00888	41872646,NP_055595
9820	160370003	Disease	p.His1464Pro	VAR_026124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026124	- 3M syndrome type 1 (3M1) [MIM:273750]	SWISS	1005	pfam00888	41872646,NP_055595
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	16	cd06212	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	37	cd00322	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	29	cd06186	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	12	cd06190	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	20	cd06187	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	33	cd06216	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	21	COG1018	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	34	cd06188	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	17	cd06217	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	22	cd06211	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	17	cd06214	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	22	cd06210	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	17	cd06209	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	15	cd06195	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	27	COG0543	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	14	cd06191	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	14	cd06215	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	16	cd06189	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	43	cd06183	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	16	cd06196	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	15	pfam00970	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	36	cd06184	4503327,NP_000389
1727	127846	Disease	p.Arg58Gln	VAR_004619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004619	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	4	cd06198	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	31	cd06212	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	73	cd00322	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	72	cd06186	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	27_G	cd06190	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	39	cd06187	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	58	cd06216	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	45_G	COG1018	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	74	cd06188	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	34	cd06217	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	37	cd06211	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	40	cd06214	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	43	cd06210	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	33	cd06209	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	32_G	cd06195	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	47	COG0543	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	30	cd06191	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	30	cd06215	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	32	cd06189	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	76	cd06183	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	28	cd06196	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	37	pfam00970	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	63	cd06184	4503327,NP_000389
1727	127846	Disease	p.Leu73Pro	VAR_010750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010750	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	41	cd06198	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	100	cd06221	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	62	cd06212	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	266	cd00322	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	181	cd06186	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	59	cd06190	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	102	cd06187	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	132	cd06216	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	84	COG1018	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	162	cd06188	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	78	cd06217	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	78	cd06211	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	91	cd06214	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	74	cd06210	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	63	cd06209	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	96	cd06195	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	82	COG0543	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	65	cd06191	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	70	cd06215	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	68	cd06189	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	179	cd06183	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	62	cd06196	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	82	pfam00970	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	106	cd06184	4503327,NP_000389
1727	127846	Disease	p.Val106Met	VAR_004620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004620	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	85	cd06198	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	111	cd06221	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	75	cd06212	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	294	cd00322	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	214	cd06186	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	72	cd06190	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	130	cd06187	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	145	cd06216	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	103	COG1018	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	190	cd06188	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	92	cd06217	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	91	cd06211	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	113	cd06214	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	87	cd06210	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	76	cd06209	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	117	cd06195	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	95	COG0543	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	78	cd06191	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	92	cd06215	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	84	cd06189	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	260	cd06183	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	80	cd06196	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	104	pfam00970	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	138	cd06184	4503327,NP_000389
1727	127846	Disease	p.Ser128Pro	VAR_004621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004621	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	96	cd06198	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	136	cd06221	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	93_G	cd06212	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	342	cd00322	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	280	cd06186	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	94	cd06190	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	158	cd06187	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	167	cd06216	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	126	COG1018	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	218_G	cd06188	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	112_G	cd06217	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	109_G	cd06211	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	135_G	cd06214	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	113	cd06210	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	94_G	cd06209	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	139	cd06195	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	124_G	COG0543	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	101	cd06191	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	115	cd06215	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	106_G	cd06189	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	295	cd06183	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	103	cd06196	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	131	pfam00970	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	160	cd06184	4503327,NP_000389
1727	127846	Disease	p.Leu149Pro	VAR_004622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004622	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	118	cd06198	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	147	cd06221	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	112	cd06212	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	372	cd00322	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	334	cd06186	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	108	cd06190	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	186	cd06187	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	198	cd06216	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	144	COG1018	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	234	cd06188	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	132	cd06217	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	127	cd06211	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	164	cd06214	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	141	cd06210	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	113	cd06209	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	159	cd06195	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	3	pfam00175	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	147	COG0543	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	117	cd06191	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	137	cd06215	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	129	cd06189	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	341	cd06183	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	113	cd06196	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	203	cd06184	4503327,NP_000389
1727	127846	Disease	p.Ala179Val	VAR_010752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010752	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	135	cd06198	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	174	cd06221	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	137	cd06212	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	421	cd00322	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	404	cd06186	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	134_G	cd06190	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	212_G	cd06187	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	228	cd06216	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	169	COG1018	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	259	cd06188	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	157	cd06217	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	148	cd06211	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	190	cd06214	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	165	cd06210	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	139_G	cd06209	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	190_G	cd06195	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	39	pfam00175	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	172	COG0543	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	142	cd06191	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	168	cd06215	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	158_G	cd06189	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	386	cd06183	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	139	cd06196	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	233	cd06184	4503327,NP_000389
1727	127846	Disease	p.Cys204Arg	VAR_010753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010753	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	164	cd06198	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	174	cd06221	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	137	cd06212	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	421	cd00322	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	404	cd06186	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	134_G	cd06190	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	212_G	cd06187	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	228	cd06216	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	169	COG1018	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	259	cd06188	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	157	cd06217	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	148	cd06211	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	190	cd06214	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	165	cd06210	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	139_G	cd06209	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	190_G	cd06195	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	39	pfam00175	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	172	COG0543	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	142	cd06191	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	168	cd06215	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	158_G	cd06189	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	386	cd06183	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	139	cd06196	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	233	cd06184	4503327,NP_000389
1727	127846	Disease	p.Cys204Tyr	VAR_010754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010754	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	164	cd06198	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	331	cd06221	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	231	cd06212	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	599	cd00322	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	785	cd06186	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	237	cd06190	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	331	cd06187	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	324	cd06216	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	311	COG1018	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	399	cd06188	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	260	cd06217	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	243	cd06211	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	319	cd06214	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	252	cd06210	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	223	cd06209	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	309	cd06195	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	283	COG0543	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	231	cd06191	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	269	cd06215	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	252	cd06189	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	655	cd06183	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	229	cd06196	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	358	cd06184	4503327,NP_000389
1727	127846	Disease	p.Gly292Asp	VAR_037316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037316	- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]	SWISS	276	cd06198	4503327,NP_000389
1535	311033459	Disease	p.Gly24Arg	VAR_012755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012755	rs28941476 Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]	SWISS	23	pfam05038	68509914,NP_000092
1535	311033459	Disease	p.Gly25Val	VAR_060576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060576	- Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]	SWISS	24	pfam05038	68509914,NP_000092
1535	311033459	Disease	p.Leu52Pro	VAR_060577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060577	- Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]	SWISS	51	pfam05038	68509914,NP_000092
1535	311033459	Disease	p.Glu53Val	VAR_060578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060578	- Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]	SWISS	52	pfam05038	68509914,NP_000092
1535	311033459	Disease	p.Arg90Gln	VAR_005123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005123	- Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]	SWISS	90	pfam05038	68509914,NP_000092
1535	311033459	Disease	p.Arg90Trp	VAR_060579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060579	- Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]	SWISS	90	pfam05038	68509914,NP_000092
1535	311033459	Disease	p.His94Arg	VAR_005124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005124	- Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]	SWISS	94	pfam05038	68509914,NP_000092
1535	311033459	Disease	p.Ser118Arg	VAR_005125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005125	- Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]	SWISS	118	pfam05038	68509914,NP_000092
1535	311033459	Disease	p.Ala124Val	VAR_060580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060580	- Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]	SWISS	124	pfam05038	68509914,NP_000092
1535	311033459	Disease	p.Ala125Thr	VAR_060581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060581	- Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]	SWISS	125	pfam05038	68509914,NP_000092
1535	311033459	Disease	p.Pro156Gln	VAR_005126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005126	- Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]	SWISS	157	pfam05038	68509914,NP_000092
1536	115211	Disease	p.Trp18Cys	VAR_047264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047264	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	No Domain	N/A	NULL
1536	115211	Disease	p.Gly20Arg	VAR_007873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007873	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	No Domain	N/A	NULL
1536	115211	Disease	p.Tyr41Asp	VAR_025613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025613	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	No Domain	N/A	NULL
1536	115211	Disease	p.Arg54Met	VAR_025614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025614	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	No Domain	N/A	NULL
1536	115211	Disease	p.Arg54Ser	VAR_007874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007874	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	No Domain	N/A	NULL
1536	115211	Disease	p.Ala55Asp	VAR_025615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025615	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	2	pfam01794	NULL
1536	115211	Disease	p.Ala57Glu	VAR_008845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008845	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	4	pfam01794	NULL
1536	115211	Disease	p.Cys59Arg	VAR_007875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007875	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	7	pfam01794	NULL
1536	115211	Disease	p.Cys59Trp	VAR_047266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047266	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	7	pfam01794	NULL
1536	115211	Disease	p.His101Arg	VAR_002432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002432	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	74	pfam01794	NULL
1536	115211	Disease	p.His101Tyr	VAR_007876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007876	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	74	pfam01794	NULL
1536	115211	Disease	p.His119Arg	VAR_007877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007877	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	112	pfam01794	NULL
1536	115211	Disease	p.Ala156Thr	VAR_002433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002433	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	250	pfam01794	NULL
1536	115211	Disease	p.Gly179Arg	VAR_047267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047267	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	286	pfam01794	NULL
1536	115211	Disease	p.Ser193Phe	VAR_047268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047268	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	340	pfam01794	NULL
1536	115211	Disease	p.Phe205Ile	VAR_047269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047269	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	371	pfam01794	NULL
1536	115211	Disease	p.His209Gln	VAR_007878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007878	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	375	pfam01794	NULL
1536	115211	Disease	p.His209Arg	VAR_025616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025616	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	375	pfam01794	NULL
1536	115211	Disease	p.His209Tyr	VAR_002434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002434	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	375	pfam01794	NULL
1536	115211	Disease	p.His222Asn	VAR_007880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007880	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	No Domain	N/A	NULL
1536	115211	Disease	p.His222Arg	VAR_007881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007881	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	No Domain	N/A	NULL
1536	115211	Disease	p.His222Tyr	VAR_007882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007882	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	No Domain	N/A	NULL
1536	115211	Disease	p.Gly223Leu	VAR_007883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007883	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	No Domain	N/A	NULL
1536	115211	Disease	p.Ala224Gly	VAR_025617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025617	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	No Domain	N/A	NULL
1536	115211	Disease	p.Glu225Val	VAR_002435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002435	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	No Domain	N/A	NULL
1536	115211	Disease	p.Cys244Arg	VAR_007884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007884	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	No Domain	N/A	NULL
1536	115211	Disease	p.Cys244Ser	VAR_002436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002436	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	No Domain	N/A	NULL
1536	115211	Disease	p.Cys244Tyr	VAR_002437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002437	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	No Domain	N/A	NULL
1536	115211	Disease	p.His303Asn	VAR_016880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016880	rs28935182 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	34	cd00322	NULL
1536	115211	Disease	p.His303Asn	VAR_016880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016880	rs28935182 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	7	cd06198	NULL
1536	115211	Disease	p.His303Asn	VAR_016880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016880	rs28935182 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	13	pfam08022	NULL
1536	115211	Disease	p.His303Asn	VAR_016880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016880	rs28935182 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	7	cd06186	NULL
1536	115211	Disease	p.Pro304Arg	VAR_016881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016881	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	35	cd00322	NULL
1536	115211	Disease	p.Pro304Arg	VAR_016881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016881	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	8	cd06198	NULL
1536	115211	Disease	p.Pro304Arg	VAR_016881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016881	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	14	pfam08022	NULL
1536	115211	Disease	p.Pro304Arg	VAR_016881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016881	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	8	cd06186	NULL
1536	115211	Disease	p.Thr307Pro	VAR_047271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047271	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	38	cd00322	NULL
1536	115211	Disease	p.Thr307Pro	VAR_047271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047271	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	19	cd06198	NULL
1536	115211	Disease	p.Thr307Pro	VAR_047271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047271	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	23	pfam08022	NULL
1536	115211	Disease	p.Thr307Pro	VAR_047271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047271	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	28	cd06186	NULL
1536	115211	Disease	p.Glu309Lys	VAR_007885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007885	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	40	cd00322	NULL
1536	115211	Disease	p.Glu309Lys	VAR_007885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007885	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	21	cd06198	NULL
1536	115211	Disease	p.Glu309Lys	VAR_007885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007885	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	25	pfam08022	NULL
1536	115211	Disease	p.Glu309Lys	VAR_007885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007885	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	30	cd06186	NULL
1536	115211	Disease	p.Gly322Glu	VAR_007886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007886	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	76	cd00322	NULL
1536	115211	Disease	p.Gly322Glu	VAR_007886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007886	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	44	cd06198	NULL
1536	115211	Disease	p.Gly322Glu	VAR_007886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007886	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	43	pfam08022	NULL
1536	115211	Disease	p.Gly322Glu	VAR_007886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007886	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	75	cd06186	NULL
1536	115211	Disease	p.Ile325Phe	VAR_007887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007887	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	79	cd00322	NULL
1536	115211	Disease	p.Ile325Phe	VAR_007887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007887	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	47	cd06198	NULL
1536	115211	Disease	p.Ile325Phe	VAR_007887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007887	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	46	pfam08022	NULL
1536	115211	Disease	p.Ile325Phe	VAR_007887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007887	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	78	cd06186	NULL
1536	115211	Disease	p.Ser333Pro	VAR_007888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007888	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	214	cd00322	NULL
1536	115211	Disease	p.Ser333Pro	VAR_007888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007888	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	59	cd06198	NULL
1536	115211	Disease	p.Ser333Pro	VAR_007888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007888	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	55	pfam08022	NULL
1536	115211	Disease	p.Ser333Pro	VAR_007888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007888	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	106	cd06186	NULL
1536	115211	Disease	p.His338Tyr	VAR_025618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025618	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	219	cd00322	NULL
1536	115211	Disease	p.His338Tyr	VAR_025618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025618	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	64	cd06198	NULL
1536	115211	Disease	p.His338Tyr	VAR_025618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025618	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	64	pfam08022	NULL
1536	115211	Disease	p.His338Tyr	VAR_025618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025618	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	111	cd06186	NULL
1536	115211	Disease	p.Pro339His	VAR_002438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002438	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	220	cd00322	NULL
1536	115211	Disease	p.Pro339His	VAR_002438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002438	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	65	cd06198	NULL
1536	115211	Disease	p.Pro339His	VAR_002438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002438	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	65	pfam08022	NULL
1536	115211	Disease	p.Pro339His	VAR_002438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002438	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	112	cd06186	NULL
1536	115211	Disease	p.Leu342Gln	VAR_047273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047273	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	223	cd00322	NULL
1536	115211	Disease	p.Leu342Gln	VAR_047273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047273	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	68	cd06198	NULL
1536	115211	Disease	p.Leu342Gln	VAR_047273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047273	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	68	pfam08022	NULL
1536	115211	Disease	p.Leu342Gln	VAR_047273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047273	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	115	cd06186	NULL
1536	115211	Disease	p.Ser344Phe	VAR_025619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025619	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	225	cd00322	NULL
1536	115211	Disease	p.Ser344Phe	VAR_025619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025619	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	70	cd06198	NULL
1536	115211	Disease	p.Ser344Phe	VAR_025619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025619	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	71	pfam08022	NULL
1536	115211	Disease	p.Ser344Phe	VAR_025619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025619	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	117	cd06186	NULL
1536	115211	Disease	p.Arg356Pro	VAR_007889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007889	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	271	cd00322	NULL
1536	115211	Disease	p.Arg356Pro	VAR_007889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007889	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	90	cd06198	NULL
1536	115211	Disease	p.Arg356Pro	VAR_007889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007889	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	91	pfam08022	NULL
1536	115211	Disease	p.Arg356Pro	VAR_007889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007889	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	186	cd06186	NULL
1536	115211	Disease	p.Gly389Ala	VAR_002439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002439	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	337	cd00322	NULL
1536	115211	Disease	p.Gly389Ala	VAR_002439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002439	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	113	cd06198	NULL
1536	115211	Disease	p.Gly389Ala	VAR_002439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002439	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	166	pfam08022	NULL
1536	115211	Disease	p.Gly389Ala	VAR_002439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002439	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	298	cd06186	NULL
1536	115211	Disease	p.Gly389Glu	VAR_025621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025621	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	337	cd00322	NULL
1536	115211	Disease	p.Gly389Glu	VAR_025621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025621	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	113	cd06198	NULL
1536	115211	Disease	p.Gly389Glu	VAR_025621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025621	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	166	pfam08022	NULL
1536	115211	Disease	p.Gly389Glu	VAR_025621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025621	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	298	cd06186	NULL
1536	115211	Disease	p.Met405Arg	VAR_007890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007890	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	5	pfam08030	NULL
1536	115211	Disease	p.Met405Arg	VAR_007890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007890	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	369	cd00322	NULL
1536	115211	Disease	p.Met405Arg	VAR_007890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007890	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	132	cd06198	NULL
1536	115211	Disease	p.Met405Arg	VAR_007890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007890	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	331	cd06186	NULL
1536	115211	Disease	p.Gly408Glu	VAR_007891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007891	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	8	pfam08030	NULL
1536	115211	Disease	p.Gly408Glu	VAR_007891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007891	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	372	cd00322	NULL
1536	115211	Disease	p.Gly408Glu	VAR_007891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007891	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	135	cd06198	NULL
1536	115211	Disease	p.Gly408Glu	VAR_007891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007891	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	334	cd06186	NULL
1536	115211	Disease	p.Gly408Arg	VAR_007892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007892	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	8	pfam08030	NULL
1536	115211	Disease	p.Gly408Arg	VAR_007892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007892	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	372	cd00322	NULL
1536	115211	Disease	p.Gly408Arg	VAR_007892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007892	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	135	cd06198	NULL
1536	115211	Disease	p.Gly408Arg	VAR_007892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007892	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	334	cd06186	NULL
1536	115211	Disease	p.Pro415His	VAR_002440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002440	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	15	pfam08030	NULL
1536	115211	Disease	p.Pro415His	VAR_002440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002440	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	379	cd00322	NULL
1536	115211	Disease	p.Pro415His	VAR_002440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002440	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	142	cd06198	NULL
1536	115211	Disease	p.Pro415His	VAR_002440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002440	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	342	cd06186	NULL
1536	115211	Disease	p.Pro415Leu	VAR_007893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007893	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	15	pfam08030	NULL
1536	115211	Disease	p.Pro415Leu	VAR_007893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007893	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	379	cd00322	NULL
1536	115211	Disease	p.Pro415Leu	VAR_007893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007893	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	142	cd06198	NULL
1536	115211	Disease	p.Pro415Leu	VAR_007893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007893	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	342	cd06186	NULL
1536	115211	Disease	p.Leu420Pro	VAR_025622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025622	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	20	pfam08030	NULL
1536	115211	Disease	p.Leu420Pro	VAR_025622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025622	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	384	cd00322	NULL
1536	115211	Disease	p.Leu420Pro	VAR_025622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025622	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	147	cd06198	NULL
1536	115211	Disease	p.Leu420Pro	VAR_025622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025622	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	347	cd06186	NULL
1536	115211	Disease	p.Ser422Pro	VAR_007894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007894	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	22	pfam08030	NULL
1536	115211	Disease	p.Ser422Pro	VAR_007894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007894	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	386	cd00322	NULL
1536	115211	Disease	p.Ser422Pro	VAR_007894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007894	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	149	cd06198	NULL
1536	115211	Disease	p.Ser422Pro	VAR_007894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007894	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	349	cd06186	NULL
1536	115211	Disease	p.Trp453Arg	VAR_007895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007895	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	129	pfam08030	NULL
1536	115211	Disease	p.Trp453Arg	VAR_007895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007895	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	452	cd00322	NULL
1536	115211	Disease	p.Trp453Arg	VAR_007895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007895	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	181	cd06198	NULL
1536	115211	Disease	p.Trp453Arg	VAR_007895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007895	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	429	cd06186	NULL
1536	115211	Disease	p.Asp500Gly	VAR_002441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002441	rs28935181 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	235	pfam08030	NULL
1536	115211	Disease	p.Asp500Gly	VAR_002441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002441	rs28935181 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	542	cd00322	NULL
1536	115211	Disease	p.Asp500Gly	VAR_002441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002441	rs28935181 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	226	cd06198	NULL
1536	115211	Disease	p.Asp500Gly	VAR_002441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002441	rs28935181 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	515	cd06186	NULL
1536	115211	Disease	p.Leu505Arg	VAR_047275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047275	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	240	pfam08030	NULL
1536	115211	Disease	p.Leu505Arg	VAR_047275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047275	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	547	cd00322	NULL
1536	115211	Disease	p.Leu505Arg	VAR_047275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047275	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	231	cd06198	NULL
1536	115211	Disease	p.Leu505Arg	VAR_047275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047275	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	667	cd06186	NULL
1536	115211	Disease	p.Trp516Cys	VAR_007896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007896	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	284	pfam08030	NULL
1536	115211	Disease	p.Trp516Cys	VAR_007896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007896	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	558	cd00322	NULL
1536	115211	Disease	p.Trp516Cys	VAR_007896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007896	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	240_G	cd06198	NULL
1536	115211	Disease	p.Trp516Cys	VAR_007896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007896	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	678	cd06186	NULL
1536	115211	Disease	p.Trp516Arg	VAR_025623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025623	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	284	pfam08030	NULL
1536	115211	Disease	p.Trp516Arg	VAR_025623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025623	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	558	cd00322	NULL
1536	115211	Disease	p.Trp516Arg	VAR_025623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025623	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	240_G	cd06198	NULL
1536	115211	Disease	p.Trp516Arg	VAR_025623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025623	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	678	cd06186	NULL
1536	115211	Disease	p.Val534Asp	VAR_007897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007897	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	304	pfam08030	NULL
1536	115211	Disease	p.Val534Asp	VAR_007897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007897	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	576	cd00322	NULL
1536	115211	Disease	p.Val534Asp	VAR_007897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007897	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	245	cd06198	NULL
1536	115211	Disease	p.Val534Asp	VAR_007897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007897	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	696	cd06186	NULL
1536	115211	Disease	p.Cys537Arg	VAR_007898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007898	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	307	pfam08030	NULL
1536	115211	Disease	p.Cys537Arg	VAR_007898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007898	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	579	cd00322	NULL
1536	115211	Disease	p.Cys537Arg	VAR_007898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007898	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	248	cd06198	NULL
1536	115211	Disease	p.Cys537Arg	VAR_007898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007898	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	699	cd06186	NULL
1536	115211	Disease	p.Leu546Pro	VAR_047276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047276	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	316	pfam08030	NULL
1536	115211	Disease	p.Leu546Pro	VAR_047276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047276	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	591	cd00322	NULL
1536	115211	Disease	p.Leu546Pro	VAR_047276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047276	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	262	cd06198	NULL
1536	115211	Disease	p.Leu546Pro	VAR_047276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047276	- Chronic granulomatous disease X-linked (XCGD) [MIM:306400]	SWISS	737	cd06186	NULL
54205	42560196	Disease	p.Gly42Ser	VAR_044450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044450	- Thrombocytopenia type 4 (THC4) [MIM:612004]	SWISS	80	COG3474	11128019,NP_061820
54205	42560196	Disease	p.Gly42Ser	VAR_044450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044450	- Thrombocytopenia type 4 (THC4) [MIM:612004]	SWISS	114	pfam00034	11128019,NP_061820
1540	51316104	Disease	p.Glu747Gly	VAR_045967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045967	- Brooke-Spiegler syndrome (BRSS) [MIM:605041]	SWISS	355	cd02670	14165258,NP_056062
1540	51316104	Disease	p.Glu747Gly	VAR_045967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045967	- Brooke-Spiegler syndrome (BRSS) [MIM:605041]	SWISS	1420	cd02257	14165258,NP_056062
1540	51316104	Disease	p.Glu747Gly	VAR_045967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045967	- Multiple familial trichoepithelioma type 1 (MFT1) [MIM:601606]	SWISS	355	cd02670	14165258,NP_056062
1540	51316104	Disease	p.Glu747Gly	VAR_045967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045967	- Multiple familial trichoepithelioma type 1 (MFT1) [MIM:601606]	SWISS	1420	cd02257	14165258,NP_056062
1583	143811381	Disease	p.Ala189Val	VAR_016949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016949	- Congenital adrenal insufficiency (CAI)	SWISS	149	pfam00067	153218646,NP_000772
1583	143811381	Disease	p.Ala189Val	VAR_016949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016949	- Congenital adrenal insufficiency (CAI)	SWISS	180_G	COG2124	153218646,NP_000772
1583	143811381	Disease	p.Arg353Trp	VAR_016951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016951	- Congenital adrenal insufficiency (CAI)	SWISS	360	pfam00067	153218646,NP_000772
1583	143811381	Disease	p.Arg353Trp	VAR_016951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016951	- Congenital adrenal insufficiency (CAI)	SWISS	362	COG2124	153218646,NP_000772
1584	215274267	Disease	p.Pro42Ser	VAR_001260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001260	- Adrenal hyperplasia type 4 (AH4) [MIM:202010]	SWISS	5	COG2124	61743918,NP_000488
1584	215274267	Disease	p.Asn133His	VAR_001261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001261	- Adrenal hyperplasia type 4 (AH4) [MIM:202010]	SWISS	99	pfam00067	61743918,NP_000488
1584	215274267	Disease	p.Asn133His	VAR_001261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001261	- Adrenal hyperplasia type 4 (AH4) [MIM:202010]	SWISS	132	COG2124	61743918,NP_000488
1584	215274267	Disease	p.Thr318Met	VAR_001262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001262	- Adrenal hyperplasia type 4 (AH4) [MIM:202010]	SWISS	336	pfam00067	61743918,NP_000488
1584	215274267	Disease	p.Thr318Met	VAR_001262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001262	- Adrenal hyperplasia type 4 (AH4) [MIM:202010]	SWISS	339	COG2124	61743918,NP_000488
1584	215274267	Disease	p.Thr319Met	VAR_001263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001263	- Adrenal hyperplasia type 4 (AH4) [MIM:202010]	SWISS	337	pfam00067	61743918,NP_000488
1584	215274267	Disease	p.Thr319Met	VAR_001263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001263	- Adrenal hyperplasia type 4 (AH4) [MIM:202010]	SWISS	340	COG2124	61743918,NP_000488
1584	215274267	Disease	p.Arg374Gln	VAR_001264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001264	- Adrenal hyperplasia type 4 (AH4) [MIM:202010]	SWISS	403	pfam00067	61743918,NP_000488
1584	215274267	Disease	p.Arg374Gln	VAR_001264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001264	- Adrenal hyperplasia type 4 (AH4) [MIM:202010]	SWISS	403	COG2124	61743918,NP_000488
1584	215274267	Disease	p.Arg448His	VAR_001265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001265	rs28934586 Adrenal hyperplasia type 4 (AH4) [MIM:202010]	SWISS	503	pfam00067	61743918,NP_000488
1584	215274267	Disease	p.Arg448His	VAR_001265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001265	rs28934586 Adrenal hyperplasia type 4 (AH4) [MIM:202010]	SWISS	510	COG2124	61743918,NP_000488
1585	3041666	Disease	p.Arg181Trp	VAR_001267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001267	rs28931609 Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]	SWISS	151	pfam00067	119829183,NP_000489
1585	3041666	Disease	p.Arg181Trp	VAR_001267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001267	rs28931609 Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]	SWISS	181	COG2124	119829183,NP_000489
1585	3041666	Disease	p.Thr185Ile	VAR_018471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018471	- Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]	SWISS	155	pfam00067	119829183,NP_000489
1585	3041666	Disease	p.Thr185Ile	VAR_018471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018471	- Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]	SWISS	185	COG2124	119829183,NP_000489
1585	3041666	Disease	p.Glu198Asp	VAR_001268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001268	- Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]	SWISS	168	pfam00067	119829183,NP_000489
1585	3041666	Disease	p.Glu198Asp	VAR_001268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001268	- Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]	SWISS	198	COG2124	119829183,NP_000489
1585	3041666	Disease	p.Val386Ala	VAR_001269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001269	rs4541 Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]	SWISS	417	pfam00067	119829183,NP_000489
1585	3041666	Disease	p.Val386Ala	VAR_001269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001269	rs4541 Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]	SWISS	418	COG2124	119829183,NP_000489
1585	3041666	Disease	p.Leu461Pro	VAR_018472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018472	- Corticosterone methyloxidase type 1 deficiency (CMO-1 deficiency) [MIM:203400]	SWISS	516	pfam00067	119829183,NP_000489
1585	3041666	Disease	p.Leu461Pro	VAR_018472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018472	- Corticosterone methyloxidase type 1 deficiency (CMO-1 deficiency) [MIM:203400]	SWISS	524	COG2124	119829183,NP_000489
1585	3041666	Disease	p.Thr498Ala	VAR_018473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018473	- Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]	SWISS	558	pfam00067	119829183,NP_000489
1585	3041666	Disease	p.Thr498Ala	VAR_018473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018473	- Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]	SWISS	565	COG2124	119829183,NP_000489
1586	117283	Disease	p.Pro35Leu	VAR_022745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022745	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	8	COG2124	NULL
1586	117283	Disease	p.Pro35Leu	VAR_022745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022745	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	9	pfam00067	NULL
1586	117283	Disease	p.Tyr64Ser	VAR_001271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001271	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	47	COG2124	NULL
1586	117283	Disease	p.Tyr64Ser	VAR_001271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001271	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	44	pfam00067	NULL
1586	117283	Disease	p.Phe93Cys	VAR_013147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013147	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	96	COG2124	NULL
1586	117283	Disease	p.Phe93Cys	VAR_013147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013147	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	74	pfam00067	NULL
1586	117283	Disease	p.Arg96Trp	VAR_022746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022746	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	102	COG2124	NULL
1586	117283	Disease	p.Arg96Trp	VAR_022746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022746	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	77	pfam00067	NULL
1586	117283	Disease	p.Ser106Pro	VAR_001272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001272	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	122	COG2124	NULL
1586	117283	Disease	p.Ser106Pro	VAR_001272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001272	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	87	pfam00067	NULL
1586	117283	Disease	p.Phe114Val	VAR_022747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022747	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	130	COG2124	NULL
1586	117283	Disease	p.Phe114Val	VAR_022747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022747	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	97	pfam00067	NULL
1586	117283	Disease	p.Asp116Val	VAR_022748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022748	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	132	COG2124	NULL
1586	117283	Disease	p.Asp116Val	VAR_022748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022748	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	99	pfam00067	NULL
1586	117283	Disease	p.Asn177Asp	VAR_022749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022749	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	197	COG2124	NULL
1586	117283	Disease	p.Asn177Asp	VAR_022749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022749	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	168	pfam00067	NULL
1586	117283	Disease	p.Tyr329Asp	VAR_022750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022750	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	369	COG2124	NULL
1586	117283	Disease	p.Tyr329Asp	VAR_022750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022750	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	360	pfam00067	NULL
1586	117283	Disease	p.Pro342Thr	VAR_001274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001274	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	382	COG2124	NULL
1586	117283	Disease	p.Pro342Thr	VAR_001274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001274	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	383	pfam00067	NULL
1586	117283	Disease	p.Arg347Cys	VAR_022752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022752	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	388	COG2124	NULL
1586	117283	Disease	p.Arg347Cys	VAR_022752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022752	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	388	pfam00067	NULL
1586	117283	Disease	p.Arg347His	VAR_001275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001275	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	388	COG2124	NULL
1586	117283	Disease	p.Arg347His	VAR_001275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001275	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	388	pfam00067	NULL
1586	117283	Disease	p.Arg358Gln	VAR_001276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001276	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	399	COG2124	NULL
1586	117283	Disease	p.Arg358Gln	VAR_001276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001276	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	399	pfam00067	NULL
1586	117283	Disease	p.Arg362Cys	VAR_022753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022753	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	403	COG2124	NULL
1586	117283	Disease	p.Arg362Cys	VAR_022753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022753	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	403	pfam00067	NULL
1586	117283	Disease	p.His373Leu	VAR_001277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001277	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	416	COG2124	NULL
1586	117283	Disease	p.His373Leu	VAR_001277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001277	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	415	pfam00067	NULL
1586	117283	Disease	p.Trp406Arg	VAR_022754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022754	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	453	COG2124	NULL
1586	117283	Disease	p.Trp406Arg	VAR_022754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022754	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	454	pfam00067	NULL
1586	117283	Disease	p.Phe417Cys	VAR_022755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022755	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	465	COG2124	NULL
1586	117283	Disease	p.Phe417Cys	VAR_022755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022755	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	466	pfam00067	NULL
1586	117283	Disease	p.Pro428Leu	VAR_022756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022756	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	490	COG2124	NULL
1586	117283	Disease	p.Pro428Leu	VAR_022756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022756	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	491	pfam00067	NULL
1586	117283	Disease	p.Arg440His	VAR_001278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001278	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	510	COG2124	NULL
1586	117283	Disease	p.Arg440His	VAR_001278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001278	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	503	pfam00067	NULL
1586	117283	Disease	p.Arg496Cys	VAR_001280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001280	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	No Domain	N/A	NULL
1586	117283	Disease	p.Arg496His	VAR_022757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022757	- Adrenal hyperplasia type 5 (AH5) [MIM:202110]	SWISS	No Domain	N/A	NULL
1588	117293	Disease	p.Arg365Gln	VAR_016962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016962	- Aromatase deficiency (AROD) [MIM:107910]	SWISS	403	COG2124	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Arg365Gln	VAR_016962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016962	- Aromatase deficiency (AROD) [MIM:107910]	SWISS	403	pfam00067	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Arg375Cys	VAR_016963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016963	- Aromatase deficiency (AROD) [MIM:107910]	SWISS	416	COG2124	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Arg375Cys	VAR_016963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016963	- Aromatase deficiency (AROD) [MIM:107910]	SWISS	415	pfam00067	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Arg435Cys	VAR_016964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016964	- Aromatase deficiency (AROD) [MIM:107910]	SWISS	510	COG2124	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Arg435Cys	VAR_016964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016964	- Aromatase deficiency (AROD) [MIM:107910]	SWISS	503	pfam00067	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Cys437Tyr	VAR_016965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016965	- Aromatase deficiency (AROD) [MIM:107910]	SWISS	512	COG2124	13904858,NP_000094|13904860,NP_112503
1588	117293	Disease	p.Cys437Tyr	VAR_016965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016965	- Aromatase deficiency (AROD) [MIM:107910]	SWISS	505	pfam00067	13904858,NP_000094|13904860,NP_112503
1545	48429256	Disease	p.Ser28Trp	VAR_054227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054227	- Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	No Domain	N/A	189491763,NP_000095
1545	48429256	Disease	p.Trp57Cys	VAR_008350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008350	- Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	12	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Trp57Cys	VAR_008350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008350	- Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	8	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Gly61Glu	VAR_001244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001244	rs28936700 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	16	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Gly61Glu	VAR_001244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001244	rs28936700 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	12	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Gly61Glu	VAR_001244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001244	rs28936700 Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	16	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Gly61Glu	VAR_001244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001244	rs28936700 Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	12	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Leu77Pro	VAR_054229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054229	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	39	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Leu77Pro	VAR_054229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054229	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	34	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Tyr81Asn	VAR_028736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028736	rs9282671 Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	43	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Tyr81Asn	VAR_028736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028736	rs9282671 Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	38	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Ala115Pro	VAR_054230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054230	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	94	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Ala115Pro	VAR_054230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054230	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	77	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Met132Arg	VAR_054231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054231	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	119	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Met132Arg	VAR_054231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054231	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	95	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Gln144Pro	VAR_054233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054233	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	131	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Gln144Pro	VAR_054233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054233	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	108	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Gln144Arg	VAR_054234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054234	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	131	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Gln144Arg	VAR_054234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054234	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	108	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Arg145Trp	VAR_054235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054235	- Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	132	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Arg145Trp	VAR_054235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054235	- Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	109	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Asp192Val	VAR_054238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054238	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	187	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Asp192Val	VAR_054238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054238	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	157	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Pro193Leu	VAR_054239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054239	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	188	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Pro193Leu	VAR_054239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054239	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	158	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Val198Ile	VAR_054240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054240	rs59472972 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	193	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Val198Ile	VAR_054240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054240	rs59472972 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	163	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Asn203Ser	VAR_054241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054241	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	198	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Asn203Ser	VAR_054241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054241	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	168	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Ser215Ile	VAR_054242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054242	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	210	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Ser215Ile	VAR_054242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054242	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	180	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Glu229Lys	VAR_054243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054243	rs57865060 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	224	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Glu229Lys	VAR_054243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054243	rs57865060 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	206	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Glu229Lys	VAR_054243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054243	rs57865060 Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	224	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Glu229Lys	VAR_054243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054243	rs57865060 Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	206	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Gly232Arg	VAR_054244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054244	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	227	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Gly232Arg	VAR_054244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054244	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	209	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Gly232Arg	VAR_054244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054244	- Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	227	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Gly232Arg	VAR_054244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054244	- Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	209	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Ser239Arg	VAR_054245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054245	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	232_G	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Ser239Arg	VAR_054245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054245	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	218	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Val320Leu	VAR_054247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054247	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	325	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Val320Leu	VAR_054247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054247	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	322	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Ala330Phe	VAR_054248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054248	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	335	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Ala330Phe	VAR_054248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054248	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	332	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Leu345Phe	VAR_054251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054251	- Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	350	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Leu345Phe	VAR_054251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054251	- Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	348	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Val364Met	VAR_054253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054253	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	376	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Val364Met	VAR_054253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054253	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	367	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Gly365Trp	VAR_001245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001245	rs55771538 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	377	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Gly365Trp	VAR_001245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001245	rs55771538 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	369	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Arg368His	VAR_016034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016034	rs28936414 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	380	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Arg368His	VAR_016034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016034	rs28936414 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	381	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Asp374Asn	VAR_001246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001246	rs28936413 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	387	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Asp374Asn	VAR_001246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001246	rs28936413 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	387	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Glu387Lys	VAR_008352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008352	rs55989760 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	400	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Glu387Lys	VAR_008352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008352	rs55989760 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	400	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Glu387Lys	VAR_008352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008352	rs55989760 Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	400	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Glu387Lys	VAR_008352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008352	rs55989760 Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	400	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Ala388Thr	VAR_054254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054254	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	401	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Ala388Thr	VAR_054254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054254	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	401	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Arg390Cys	VAR_054255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054255	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	403	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Arg390Cys	VAR_054255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054255	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	403	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Arg390His	VAR_008353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008353	rs56010818 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	403	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Arg390His	VAR_008353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008353	rs56010818 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	403	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Arg390Ser	VAR_054256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054256	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	403	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Arg390Ser	VAR_054256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054256	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	403	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Ile399Ser	VAR_054257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054257	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	414	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Ile399Ser	VAR_054257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054257	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	413	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Val409Phe	VAR_054258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054258	- Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	424	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Val409Phe	VAR_054258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054258	- Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	426	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Asn423Tyr	VAR_054260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054260	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	442	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Asn423Tyr	VAR_054260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054260	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	443	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Asn423Tyr	VAR_054260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054260	- Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	442	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Asn423Tyr	VAR_054260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054260	- Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	443	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Pro437Leu	VAR_008354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008354	rs56175199 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	457	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Pro437Leu	VAR_008354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008354	rs56175199 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	458	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Ala443Gly	VAR_018774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018774	rs4986888 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	463	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Ala443Gly	VAR_018774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018774	rs4986888 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	464	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Ala443Gly	VAR_018774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018774	rs4986888 Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	463	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Ala443Gly	VAR_018774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018774	rs4986888 Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	464	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Arg444Gln	VAR_054261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054261	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	464	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Arg444Gln	VAR_054261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054261	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	465	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Phe445Cys	VAR_054262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054262	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	465	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Phe445Cys	VAR_054262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054262	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	466	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Gly466Asp	VAR_054263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054263	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	508	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Gly466Asp	VAR_054263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054263	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	501	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Arg469Trp	VAR_001247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001247	rs28936701 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	511	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Arg469Trp	VAR_001247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001247	rs28936701 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	504	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Glu499Gly	VAR_054264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054264	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	544	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Glu499Gly	VAR_054264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054264	- Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]	SWISS	534	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Ser515Leu	VAR_054265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054265	- Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	560	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Ser515Leu	VAR_054265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054265	- Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	554	pfam00067	189491763,NP_000095
1545	48429256	Disease	p.Arg523Thr	VAR_054267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054267	- Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	567	COG2124	189491763,NP_000095
1545	48429256	Disease	p.Asp530Gly	VAR_054268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054268	- Primary open angle glaucoma (POAG) [MIM:137760]	SWISS	No Domain	N/A	189491763,NP_000095
1589	117275	Disease	p.Ala15Thr	VAR_026059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026059	rs63749090 Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	No Domain	N/A	NULL
1589	117275	Disease	p.Pro30Leu	VAR_001281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001281	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	4	pfam00067	NULL
1589	117275	Disease	p.Pro30Leu	VAR_001281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001281	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	7	COG2124	NULL
1589	117275	Disease	p.Pro30Gln	VAR_026060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026060	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	4	pfam00067	NULL
1589	117275	Disease	p.Pro30Gln	VAR_026060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026060	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	7	COG2124	NULL
1589	117275	Disease	p.His62Leu	VAR_018364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018364	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	47	pfam00067	NULL
1589	117275	Disease	p.His62Leu	VAR_018364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018364	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	50	COG2124	NULL
1589	117275	Disease	p.Gly64Glu	VAR_007923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007923	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	49	pfam00067	NULL
1589	117275	Disease	p.Gly64Glu	VAR_007923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007923	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	52	COG2124	NULL
1589	117275	Disease	p.Gly90Val	VAR_026061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026061	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	76	pfam00067	NULL
1589	117275	Disease	p.Gly90Val	VAR_026061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026061	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	96	COG2124	NULL
1589	117275	Disease	p.Pro105Leu	VAR_001284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001284	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	93_G	pfam00067	NULL
1589	117275	Disease	p.Pro105Leu	VAR_001284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001284	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	118	COG2124	NULL
1589	117275	Disease	p.Arg124His	VAR_026062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026062	rs72552750 Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	113	pfam00067	NULL
1589	117275	Disease	p.Arg124His	VAR_026062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026062	rs72552750 Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	142	COG2124	NULL
1589	117275	Disease	p.Cys169Tyr	VAR_001285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001285	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	167	pfam00067	NULL
1589	117275	Disease	p.Cys169Tyr	VAR_001285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001285	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	197	COG2124	NULL
1589	117275	Disease	p.Ile172Asn	VAR_001286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001286	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	170	pfam00067	NULL
1589	117275	Disease	p.Ile172Asn	VAR_001286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001286	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	200	COG2124	NULL
1589	117275	Disease	p.Gly178Ala	VAR_026063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026063	rs72552751 Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	176	pfam00067	NULL
1589	117275	Disease	p.Gly178Ala	VAR_026063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026063	rs72552751 Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	206	COG2124	NULL
1589	117275	Disease	p.Val211Leu	VAR_026064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026064	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	224	pfam00067	NULL
1589	117275	Disease	p.Val211Leu	VAR_026064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026064	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	238	COG2124	NULL
1589	117275	Disease	p.Ile236Asn	VAR_001288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001288	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	254	pfam00067	NULL
1589	117275	Disease	p.Ile236Asn	VAR_001288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001288	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	267	COG2124	NULL
1589	117275	Disease	p.Val237Glu	VAR_001289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001289	rs12530380 Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	255	pfam00067	NULL
1589	117275	Disease	p.Val237Glu	VAR_001289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001289	rs12530380 Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	268	COG2124	NULL
1589	117275	Disease	p.Met239Lys	VAR_001290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001290	rs6476 Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	257	pfam00067	NULL
1589	117275	Disease	p.Met239Lys	VAR_001290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001290	rs6476 Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	270	COG2124	NULL
1589	117275	Disease	p.Leu261Pro	VAR_026065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026065	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	296	pfam00067	NULL
1589	117275	Disease	p.Leu261Pro	VAR_026065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026065	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	300	COG2124	NULL
1589	117275	Disease	p.Val281Gly	VAR_026066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026066	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	322	pfam00067	NULL
1589	117275	Disease	p.Val281Gly	VAR_026066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026066	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	329	COG2124	NULL
1589	117275	Disease	p.Val281Leu	VAR_001292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001292	rs6471 Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	322	pfam00067	NULL
1589	117275	Disease	p.Val281Leu	VAR_001292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001292	rs6471 Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	329	COG2124	NULL
1589	117275	Disease	p.Met283Leu	VAR_026067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026067	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	324	pfam00067	NULL
1589	117275	Disease	p.Met283Leu	VAR_026067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026067	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	331	COG2124	NULL
1589	117275	Disease	p.Gly291Cys	VAR_026068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026068	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	332	pfam00067	NULL
1589	117275	Disease	p.Gly291Cys	VAR_026068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026068	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	335	COG2124	NULL
1589	117275	Disease	p.Gly291Arg	VAR_018365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018365	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	332	pfam00067	NULL
1589	117275	Disease	p.Gly291Arg	VAR_018365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018365	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	335	COG2124	NULL
1589	117275	Disease	p.Gly291Ser	VAR_001293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001293	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	332	pfam00067	NULL
1589	117275	Disease	p.Gly291Ser	VAR_001293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001293	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	335	COG2124	NULL
1589	117275	Disease	p.Leu300Phe	VAR_026069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026069	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	341	pfam00067	NULL
1589	117275	Disease	p.Leu300Phe	VAR_026069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026069	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	344	COG2124	NULL
1589	117275	Disease	p.Ser301Tyr	VAR_018366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018366	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	342	pfam00067	NULL
1589	117275	Disease	p.Ser301Tyr	VAR_018366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018366	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	345	COG2124	NULL
1589	117275	Disease	p.Leu317Met	VAR_026071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026071	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	359	pfam00067	NULL
1589	117275	Disease	p.Leu317Met	VAR_026071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026071	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	368	COG2124	NULL
1589	117275	Disease	p.Arg339His	VAR_001294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001294	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	388	pfam00067	NULL
1589	117275	Disease	p.Arg339His	VAR_001294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001294	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	388	COG2124	NULL
1589	117275	Disease	p.Arg341Pro	VAR_018367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018367	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	390	pfam00067	NULL
1589	117275	Disease	p.Arg341Pro	VAR_018367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018367	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	390	COG2124	NULL
1589	117275	Disease	p.Arg341Trp	VAR_001295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001295	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	390	pfam00067	NULL
1589	117275	Disease	p.Arg341Trp	VAR_001295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001295	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	390	COG2124	NULL
1589	117275	Disease	p.Arg354Cys	VAR_026072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026072	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	403	pfam00067	NULL
1589	117275	Disease	p.Arg354Cys	VAR_026072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026072	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	403	COG2124	NULL
1589	117275	Disease	p.Arg354His	VAR_026073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026073	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	403	pfam00067	NULL
1589	117275	Disease	p.Arg354His	VAR_026073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026073	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	403	COG2124	NULL
1589	117275	Disease	p.Arg356Pro	VAR_001296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001296	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	405	pfam00067	NULL
1589	117275	Disease	p.Arg356Pro	VAR_001296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001296	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	405	COG2124	NULL
1589	117275	Disease	p.Arg356Gln	VAR_001297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001297	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	405	pfam00067	NULL
1589	117275	Disease	p.Arg356Gln	VAR_001297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001297	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	405	COG2124	NULL
1589	117275	Disease	p.Arg356Trp	VAR_001298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001298	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	405	pfam00067	NULL
1589	117275	Disease	p.Arg356Trp	VAR_001298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001298	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	405	COG2124	NULL
1589	117275	Disease	p.Ala362Val	VAR_007924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007924	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	412	pfam00067	NULL
1589	117275	Disease	p.Ala362Val	VAR_007924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007924	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	411	COG2124	NULL
1589	117275	Disease	p.Leu363Trp	VAR_026074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026074	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	413	pfam00067	NULL
1589	117275	Disease	p.Leu363Trp	VAR_026074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026074	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	414	COG2124	NULL
1589	117275	Disease	p.His365Tyr	VAR_026075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026075	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	415	pfam00067	NULL
1589	117275	Disease	p.His365Tyr	VAR_026075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026075	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	416	COG2124	NULL
1589	117275	Disease	p.Glu380Asp	VAR_001299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001299	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	436	pfam00067	NULL
1589	117275	Disease	p.Glu380Asp	VAR_001299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001299	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	435	COG2124	NULL
1589	117275	Disease	p.Arg408Cys	VAR_026077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026077	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	465	pfam00067	NULL
1589	117275	Disease	p.Arg408Cys	VAR_026077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026077	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	464	COG2124	NULL
1589	117275	Disease	p.Gly424Ser	VAR_026078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026078	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	501	pfam00067	NULL
1589	117275	Disease	p.Gly424Ser	VAR_026078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026078	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	508	COG2124	NULL
1589	117275	Disease	p.Arg426His	VAR_026079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026079	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	503	pfam00067	NULL
1589	117275	Disease	p.Arg426His	VAR_026079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026079	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	510	COG2124	NULL
1589	117275	Disease	p.Arg435Cys	VAR_026080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026080	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	512	pfam00067	NULL
1589	117275	Disease	p.Arg435Cys	VAR_026080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026080	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	519	COG2124	NULL
1589	117275	Disease	p.Pro453Ser	VAR_001300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001300	rs6445 Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	532	pfam00067	NULL
1589	117275	Disease	p.Pro453Ser	VAR_001300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001300	rs6445 Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	538	COG2124	NULL
1589	117275	Disease	p.Arg479Leu	VAR_026081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026081	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	558	pfam00067	NULL
1589	117275	Disease	p.Arg479Leu	VAR_026081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026081	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	565	COG2124	NULL
1589	117275	Disease	p.Pro482Ser	VAR_026082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026082	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	No Domain	N/A	NULL
1589	117275	Disease	p.Arg483Pro	VAR_001301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001301	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	No Domain	N/A	NULL
1589	117275	Disease	p.Arg483Gln	VAR_018368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018368	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	No Domain	N/A	NULL
1589	117275	Disease	p.Arg483Trp	VAR_026083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026083	- Adrenal hyperplasia type 3 (AH3) [MIM:201910]	SWISS	No Domain	N/A	NULL
1593	399288	Disease	p.Gly145Glu	VAR_016966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016966	- Cerebrotendinous xanthomatosis (CTX) [MIM:213700]	SWISS	94	pfam00067	4503211,NP_000775
1593	399288	Disease	p.Gly145Glu	VAR_016966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016966	- Cerebrotendinous xanthomatosis (CTX) [MIM:213700]	SWISS	121	COG2124	4503211,NP_000775
1593	399288	Disease	p.Arg395Cys	VAR_001303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001303	- Cerebrotendinous xanthomatosis (CTX) [MIM:213700]	SWISS	403	pfam00067	4503211,NP_000775
1593	399288	Disease	p.Arg395Cys	VAR_001303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001303	- Cerebrotendinous xanthomatosis (CTX) [MIM:213700]	SWISS	403	COG2124	4503211,NP_000775
1593	399288	Disease	p.Arg395Ser	VAR_012285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012285	- Cerebrotendinous xanthomatosis (CTX) [MIM:213700]	SWISS	403	pfam00067	4503211,NP_000775
1593	399288	Disease	p.Arg395Ser	VAR_012285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012285	- Cerebrotendinous xanthomatosis (CTX) [MIM:213700]	SWISS	403	COG2124	4503211,NP_000775
1593	399288	Disease	p.Arg405Gln	VAR_012286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012286	- Cerebrotendinous xanthomatosis (CTX) [MIM:213700]	SWISS	415	pfam00067	4503211,NP_000775
1593	399288	Disease	p.Arg405Gln	VAR_012286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012286	- Cerebrotendinous xanthomatosis (CTX) [MIM:213700]	SWISS	416	COG2124	4503211,NP_000775
1593	399288	Disease	p.Arg474Gln	VAR_012287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012287	- Cerebrotendinous xanthomatosis (CTX) [MIM:213700]	SWISS	503	pfam00067	4503211,NP_000775
1593	399288	Disease	p.Arg474Gln	VAR_012287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012287	- Cerebrotendinous xanthomatosis (CTX) [MIM:213700]	SWISS	510	COG2124	4503211,NP_000775
1593	399288	Disease	p.Arg474Trp	VAR_012288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012288	- Cerebrotendinous xanthomatosis (CTX) [MIM:213700]	SWISS	503	pfam00067	4503211,NP_000775
1593	399288	Disease	p.Arg474Trp	VAR_012288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012288	- Cerebrotendinous xanthomatosis (CTX) [MIM:213700]	SWISS	510	COG2124	4503211,NP_000775
1593	399288	Disease	p.Arg479Cys	VAR_001304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001304	- Cerebrotendinous xanthomatosis (CTX) [MIM:213700]	SWISS	508	pfam00067	4503211,NP_000775
1593	399288	Disease	p.Arg479Cys	VAR_001304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001304	- Cerebrotendinous xanthomatosis (CTX) [MIM:213700]	SWISS	515	COG2124	4503211,NP_000775
1594	3182968	Disease	p.Gln65His	VAR_016969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016969	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	39	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Gln65His	VAR_016969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016969	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	31	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Arg107His	VAR_016952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016952	rs28934604 Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	89	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Arg107His	VAR_016952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016952	rs28934604 Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	76	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Gly125Glu	VAR_016953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016953	rs28934605 Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	123	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Gly125Glu	VAR_016953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016953	rs28934605 Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	94	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Glu189Gly	VAR_016954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016954	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	194	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Glu189Gly	VAR_016954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016954	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	161	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Glu189Lys	VAR_016967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016967	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	194	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Glu189Lys	VAR_016967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016967	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	161	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Thr321Arg	VAR_016955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016955	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	339	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Thr321Arg	VAR_016955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016955	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	336	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Ser323Tyr	VAR_016970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016970	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	341	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Ser323Tyr	VAR_016970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016970	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	338	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Arg335Pro	VAR_016956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016956	rs28934606 Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	353	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Arg335Pro	VAR_016956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016956	rs28934606 Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	351	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Leu343Phe	VAR_016957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016957	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	368	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Leu343Phe	VAR_016957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016957	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	359	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Pro382Ser	VAR_016958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016958	rs28934607 Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	406	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Pro382Ser	VAR_016958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016958	rs28934607 Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	406	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Arg389Cys	VAR_016968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016968	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	416	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Arg389Cys	VAR_016968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016968	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	415	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Arg389Gly	VAR_016960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016960	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	416	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Arg389Gly	VAR_016960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016960	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	415	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Arg389His	VAR_016959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016959	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	416	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Arg389His	VAR_016959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016959	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	415	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Thr409Ile	VAR_016961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016961	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	440	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Thr409Ile	VAR_016961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016961	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	441	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Arg429Pro	VAR_016971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016971	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	461	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Arg429Pro	VAR_016971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016971	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	462	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Arg453Cys	VAR_016972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016972	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	510	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Arg453Cys	VAR_016972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016972	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	503	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Val478Gly	VAR_016973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016973	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	536	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Val478Gly	VAR_016973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016973	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	528	pfam00067	4503213,NP_000776
1594	3182968	Disease	p.Pro497Arg	VAR_016974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016974	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	556	COG2124	4503213,NP_000776
1594	3182968	Disease	p.Pro497Arg	VAR_016974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016974	- Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]	SWISS	551	pfam00067	4503213,NP_000776
120227	62286619	Disease	p.Leu99Pro	VAR_021534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021534	rs61495246 Rickets vitamin D-dependent type 1B (VDDR1B) [MIM:600081]	SWISS	67	pfam00067	45267826,NP_078790
120227	62286619	Disease	p.Leu99Pro	VAR_021534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021534	rs61495246 Rickets vitamin D-dependent type 1B (VDDR1B) [MIM:600081]	SWISS	81	COG2124	45267826,NP_078790
126410	74748981	Disease	p.Phe59Leu	VAR_037441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037441	- Ichthyosis lamellar type 3 (LI3) [MIM:604777]	SWISS	No Domain	N/A	158138530,NP_775754
126410	74748981	Disease	p.Arg243His	VAR_037442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037442	- Ichthyosis lamellar type 3 (LI3) [MIM:604777]	SWISS	217	pfam00067	158138530,NP_775754
126410	74748981	Disease	p.Arg243His	VAR_037442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037442	- Ichthyosis lamellar type 3 (LI3) [MIM:604777]	SWISS	236	COG2124	158138530,NP_775754
126410	74748981	Disease	p.Arg372Trp	VAR_037443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037443	- Ichthyosis lamellar type 3 (LI3) [MIM:604777]	SWISS	370	pfam00067	158138530,NP_775754
126410	74748981	Disease	p.Arg372Trp	VAR_037443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037443	- Ichthyosis lamellar type 3 (LI3) [MIM:604777]	SWISS	379	COG2124	158138530,NP_775754
126410	74748981	Disease	p.His435Tyr	VAR_037444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037444	- Ichthyosis lamellar type 3 (LI3) [MIM:604777]	SWISS	448	pfam00067	158138530,NP_775754
126410	74748981	Disease	p.His435Tyr	VAR_037444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037444	- Ichthyosis lamellar type 3 (LI3) [MIM:604777]	SWISS	447	COG2124	158138530,NP_775754
126410	74748981	Disease	p.His436Asp	VAR_037445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037445	- Ichthyosis lamellar type 3 (LI3) [MIM:604777]	SWISS	449	pfam00067	158138530,NP_775754
126410	74748981	Disease	p.His436Asp	VAR_037445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037445	- Ichthyosis lamellar type 3 (LI3) [MIM:604777]	SWISS	448	COG2124	158138530,NP_775754
285440	296434466	Disease	p.Trp44Arg	VAR_023084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023084	- Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]	SWISS	No Domain	N/A	187960086,NP_997235
285440	296434466	Disease	p.Gly61Ser	VAR_023085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023085	- Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]	SWISS	17	COG2124	187960086,NP_997235
285440	296434466	Disease	p.Gly61Ser	VAR_023085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023085	- Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]	SWISS	12	pfam00067	187960086,NP_997235
285440	296434466	Disease	p.Glu79Asp	VAR_023086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023086	- Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]	SWISS	44	COG2124	187960086,NP_997235
285440	296434466	Disease	p.Glu79Asp	VAR_023086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023086	- Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]	SWISS	33	pfam00067	187960086,NP_997235
285440	296434466	Disease	p.Ile111Thr	VAR_023087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023087	- Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]	SWISS	80	COG2124	187960086,NP_997235
285440	296434466	Disease	p.Ile111Thr	VAR_023087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023087	- Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]	SWISS	66	pfam00067	187960086,NP_997235
285440	296434466	Disease	p.Met123Val	VAR_023088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023088	- Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]	SWISS	101	COG2124	187960086,NP_997235
285440	296434466	Disease	p.Met123Val	VAR_023088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023088	- Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]	SWISS	83	pfam00067	187960086,NP_997235
285440	296434466	Disease	p.His331Pro	VAR_023089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023089	- Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]	SWISS	337	COG2124	187960086,NP_997235
285440	296434466	Disease	p.His331Pro	VAR_023089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023089	- Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]	SWISS	334	pfam00067	187960086,NP_997235
285440	296434466	Disease	p.Ser341Pro	VAR_023090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023090	- Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]	SWISS	347	COG2124	187960086,NP_997235
285440	296434466	Disease	p.Ser341Pro	VAR_023090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023090	- Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]	SWISS	344	pfam00067	187960086,NP_997235
285440	296434466	Disease	p.Arg508His	VAR_023091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023091	- Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]	SWISS	555	COG2124	187960086,NP_997235
285440	296434466	Disease	p.Arg508His	VAR_023091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023091	- Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]	SWISS	550	pfam00067	187960086,NP_997235
9420	20141320	Disease	p.Gly57Arg	VAR_044382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044382	- Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]	SWISS	12	pfam00067	4758104,NP_004811
9420	20141320	Disease	p.Gly57Arg	VAR_044382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044382	- Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]	SWISS	20	COG2124	4758104,NP_004811
9420	20141320	Disease	p.Phe216Ser	VAR_044383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044383	- Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]	SWISS	213	pfam00067	4758104,NP_004811
9420	20141320	Disease	p.Phe216Ser	VAR_044383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044383	- Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]	SWISS	227	COG2124	4758104,NP_004811
9420	20141320	Disease	p.Ser363Phe	VAR_044384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044384	- Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]	SWISS	405	pfam00067	4758104,NP_004811
9420	20141320	Disease	p.Ser363Phe	VAR_044384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044384	- Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]	SWISS	405	COG2124	4758104,NP_004811
9420	20141320	Disease	p.Arg417His	VAR_044385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044385	- Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]	SWISS	465	pfam00067	4758104,NP_004811
9420	20141320	Disease	p.Arg417His	VAR_044385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044385	- Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]	SWISS	464	COG2124	4758104,NP_004811
728294	91208273	Disease	p.Ile147Ser	VAR_025890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025890	- D-2-hydroxyglutaric aciduria (D2HGA) [MIM:600721]	SWISS	116	COG0277	119964728,NP_689996
728294	91208273	Disease	p.Ile147Ser	VAR_025890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025890	- D-2-hydroxyglutaric aciduria (D2HGA) [MIM:600721]	SWISS	72	pfam01565	119964728,NP_689996
728294	91208273	Disease	p.Asp375Tyr	VAR_025891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025891	- D-2-hydroxyglutaric aciduria (D2HGA) [MIM:600721]	SWISS	514	COG0277	119964728,NP_689996
728294	91208273	Disease	p.Asp375Tyr	VAR_025891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025891	- D-2-hydroxyglutaric aciduria (D2HGA) [MIM:600721]	SWISS	141	pfam02913	119964728,NP_689996
728294	91208273	Disease	p.Asn439Asp	VAR_025893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025893	- D-2-hydroxyglutaric aciduria (D2HGA) [MIM:600721]	SWISS	738	COG0277	119964728,NP_689996
728294	91208273	Disease	p.Asn439Asp	VAR_025893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025893	- D-2-hydroxyglutaric aciduria (D2HGA) [MIM:600721]	SWISS	241	pfam02913	119964728,NP_689996
728294	91208273	Disease	p.Val444Ala	VAR_025894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025894	- D-2-hydroxyglutaric aciduria (D2HGA) [MIM:600721]	SWISS	744	COG0277	119964728,NP_689996
728294	91208273	Disease	p.Val444Ala	VAR_025894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025894	- D-2-hydroxyglutaric aciduria (D2HGA) [MIM:600721]	SWISS	246	pfam02913	119964728,NP_689996
55157	74758347	Disease	p.Ser45Gly	VAR_037015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037015	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	43	COG1190	40789249,NP_060592
55157	74758347	Disease	p.Cys152Phe	VAR_037016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037016	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	261	COG1190	40789249,NP_060592
55157	74758347	Disease	p.Cys152Phe	VAR_037016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037016	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	132	cd04317	40789249,NP_060592
55157	74758347	Disease	p.Cys152Phe	VAR_037016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037016	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	143	COG0017	40789249,NP_060592
55157	74758347	Disease	p.Cys152Phe	VAR_037016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037016	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	131	COG0173	40789249,NP_060592
55157	74758347	Disease	p.Cys152Phe	VAR_037016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037016	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	86	cd04319	40789249,NP_060592
55157	74758347	Disease	p.Cys152Phe	VAR_037016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037016	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	103	cd04316	40789249,NP_060592
55157	74758347	Disease	p.Arg179His	VAR_037017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037017	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	288	COG1190	40789249,NP_060592
55157	74758347	Disease	p.Arg179His	VAR_037017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037017	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	173	cd04317	40789249,NP_060592
55157	74758347	Disease	p.Arg179His	VAR_037017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037017	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	192	COG0017	40789249,NP_060592
55157	74758347	Disease	p.Arg179His	VAR_037017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037017	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	14	pfam00152	40789249,NP_060592
55157	74758347	Disease	p.Arg179His	VAR_037017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037017	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	161	COG0173	40789249,NP_060592
55157	74758347	Disease	p.Arg179His	VAR_037017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037017	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	16	cd00776	40789249,NP_060592
55157	74758347	Disease	p.Gln184Lys	VAR_037018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037018	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	294	COG1190	40789249,NP_060592
55157	74758347	Disease	p.Gln184Lys	VAR_037018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037018	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	197	COG0017	40789249,NP_060592
55157	74758347	Disease	p.Gln184Lys	VAR_037018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037018	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	19	pfam00152	40789249,NP_060592
55157	74758347	Disease	p.Gln184Lys	VAR_037018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037018	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	166	COG0173	40789249,NP_060592
55157	74758347	Disease	p.Gln184Lys	VAR_037018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037018	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	21	cd00776	40789249,NP_060592
55157	74758347	Disease	p.Gln248Lys	VAR_037019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037019	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	359	COG1190	40789249,NP_060592
55157	74758347	Disease	p.Gln248Lys	VAR_037019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037019	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	91	cd00768	40789249,NP_060592
55157	74758347	Disease	p.Gln248Lys	VAR_037019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037019	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	289	COG0017	40789249,NP_060592
55157	74758347	Disease	p.Gln248Lys	VAR_037019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037019	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	106	pfam00152	40789249,NP_060592
55157	74758347	Disease	p.Gln248Lys	VAR_037019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037019	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	235	COG0173	40789249,NP_060592
55157	74758347	Disease	p.Gln248Lys	VAR_037019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037019	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	174	cd00776	40789249,NP_060592
55157	74758347	Disease	p.Gln248Lys	VAR_037019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037019	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	57	cd00775	40789249,NP_060592
55157	74758347	Disease	p.Gln248Lys	VAR_037019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037019	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	67	cd00777	40789249,NP_060592
55157	74758347	Disease	p.Gln248Lys	VAR_037019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037019	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	64	cd00669	40789249,NP_060592
55157	74758347	Disease	p.Arg263Gln	VAR_037020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037020	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	374	COG1190	40789249,NP_060592
55157	74758347	Disease	p.Arg263Gln	VAR_037020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037020	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	114	cd00768	40789249,NP_060592
55157	74758347	Disease	p.Arg263Gln	VAR_037020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037020	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	305	COG0017	40789249,NP_060592
55157	74758347	Disease	p.Arg263Gln	VAR_037020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037020	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	122	pfam00152	40789249,NP_060592
55157	74758347	Disease	p.Arg263Gln	VAR_037020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037020	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	250	COG0173	40789249,NP_060592
55157	74758347	Disease	p.Arg263Gln	VAR_037020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037020	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	189	cd00776	40789249,NP_060592
55157	74758347	Disease	p.Arg263Gln	VAR_037020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037020	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	85	cd00775	40789249,NP_060592
55157	74758347	Disease	p.Arg263Gln	VAR_037020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037020	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	82	cd00777	40789249,NP_060592
55157	74758347	Disease	p.Arg263Gln	VAR_037020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037020	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	79	cd00669	40789249,NP_060592
55157	74758347	Disease	p.Asp560Val	VAR_037021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037021	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	607	COG1190	40789249,NP_060592
55157	74758347	Disease	p.Asp560Val	VAR_037021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037021	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	687	cd00768	40789249,NP_060592
55157	74758347	Disease	p.Asp560Val	VAR_037021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037021	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	555	COG0017	40789249,NP_060592
55157	74758347	Disease	p.Asp560Val	VAR_037021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037021	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	541	pfam00152	40789249,NP_060592
55157	74758347	Disease	p.Asp560Val	VAR_037021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037021	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	623	COG0173	40789249,NP_060592
55157	74758347	Disease	p.Asp560Val	VAR_037021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037021	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	416	cd00776	40789249,NP_060592
55157	74758347	Disease	p.Asp560Val	VAR_037021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037021	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	313	cd00775	40789249,NP_060592
55157	74758347	Disease	p.Asp560Val	VAR_037021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037021	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	441	cd00777	40789249,NP_060592
55157	74758347	Disease	p.Asp560Val	VAR_037021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037021	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	404	cd00669	40789249,NP_060592
55157	74758347	Disease	p.Leu613Phe	VAR_037022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037022	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	609	COG0017	40789249,NP_060592
55157	74758347	Disease	p.Leu613Phe	VAR_037022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037022	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	679	COG0173	40789249,NP_060592
55157	74758347	Disease	p.Leu626Gln	VAR_037023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037023	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	692	COG0173	40789249,NP_060592
55157	74758347	Disease	p.Leu626Val	VAR_037024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037024	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	692	COG0173	40789249,NP_060592
55157	74758347	Disease	p.Tyr629Cys	VAR_037025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037025	- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]	SWISS	695	COG0173	40789249,NP_060592
1621	158517849	Disease	p.Val101Met	VAR_022758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022758	- Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360]	SWISS	67	smart00664	116534900,NP_000778
1621	158517849	Disease	p.Val101Met	VAR_022758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022758	- Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360]	SWISS	64	pfam03351	116534900,NP_000778
1621	158517849	Disease	p.Asp114Glu	VAR_022759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022759	- Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360]	SWISS	96	smart00664	116534900,NP_000778
1621	158517849	Disease	p.Asp114Glu	VAR_022759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022759	- Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360]	SWISS	87	pfam03351	116534900,NP_000778
1621	158517849	Disease	p.Asp345Asn	VAR_022760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022760	- Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360]	SWISS	No Domain	N/A	116534900,NP_000778
1629	400668	Disease	p.Ile98Met	VAR_015099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015099	- Maple syrup urine disease type 2 (MSUD2) [MIM:248600]	SWISS	36	COG0508	NULL
1629	400668	Disease	p.Ile98Met	VAR_015099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015099	- Maple syrup urine disease type 2 (MSUD2) [MIM:248600]	SWISS	41	cd06663	NULL
1629	400668	Disease	p.Ile98Met	VAR_015099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015099	- Maple syrup urine disease type 2 (MSUD2) [MIM:248600]	SWISS	35	pfam00364	NULL
1629	400668	Disease	p.Ile98Met	VAR_015099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015099	- Maple syrup urine disease type 2 (MSUD2) [MIM:248600]	SWISS	40	cd06849	NULL
1629	400668	Disease	p.Phe276Cys	VAR_004978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004978	- Maple syrup urine disease type 2 (MSUD2) [MIM:248600]	SWISS	437	COG0508	NULL
1629	400668	Disease	p.Phe276Cys	VAR_004978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004978	- Maple syrup urine disease type 2 (MSUD2) [MIM:248600]	SWISS	31	pfam00198	NULL
1629	400668	Disease	p.Gly384Ser	VAR_015100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015100	rs12021720 Maple syrup urine disease type 2 (MSUD2) [MIM:248600]	SWISS	561	COG0508	NULL
1629	400668	Disease	p.Gly384Ser	VAR_015100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015100	rs12021720 Maple syrup urine disease type 2 (MSUD2) [MIM:248600]	SWISS	199	pfam00198	NULL
64421	71153325	Disease	p.His35Asp	VAR_023077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023077	- Omenn syndrome (OS) [MIM:603554]	SWISS	No Domain	N/A	76496497,NP_001029027
1639	17375490	Disease	p.Gly59Ser	VAR_015850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015850	- Distal hereditary motor neuronopathy type 7B (HMN7B) [MIM:607641]	SWISS	120	pfam01302	13259510,NP_004073
1641	215274172	Disease	p.Thr123Ile	VAR_026022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026022	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	No Domain	N/A	30181246,NP_000546
1641	215274172	Disease	p.Leu124Ser	VAR_007819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007819	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	No Domain	N/A	30181246,NP_000546
1641	215274172	Disease	p.Ser128Arg	VAR_007820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007820	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	No Domain	N/A	30181246,NP_000546
1641	215274172	Disease	p.Ser128Arg	VAR_007820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007820	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	No Domain	N/A	30181246,NP_000546
1641	215274172	Disease	p.Lys131Asn	VAR_026023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026023	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	3	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Arg140His	VAR_007822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007822	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	7	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Arg140His	VAR_007822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007822	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	12	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Arg140Leu	VAR_007821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007821	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	7	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Arg140Leu	VAR_007821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007821	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	12	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Arg140Leu	VAR_007821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007821	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	7	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Arg140Leu	VAR_007821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007821	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	12	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Asn141Asp	VAR_026024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026024	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	8	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Asn141Asp	VAR_026024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026024	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	13	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Asp143Asn	VAR_007823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007823	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	10	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Asp143Asn	VAR_007823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007823	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	15	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Asp143Asn	VAR_007823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007823	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	10	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Asp143Asn	VAR_007823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007823	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	15	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Gly148Glu	VAR_026025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026025	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	15	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Gly148Glu	VAR_026025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026025	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	20	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Ala152Ser	VAR_026026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026026	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	19	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Ala152Ser	VAR_026026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026026	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	2	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Ala152Ser	VAR_026026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026026	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	24	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Arg159Leu	VAR_007824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007824	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	27	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Arg159Leu	VAR_007824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007824	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	10	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Arg159Leu	VAR_007824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007824	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	32	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Asp167His	VAR_007825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007825	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	35	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Asp167His	VAR_007825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007825	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	18	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Asp167His	VAR_007825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007825	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	40	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Arg170Gly	VAR_010536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010536	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	38	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Arg170Gly	VAR_010536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010536	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	21	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Arg170Gly	VAR_010536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010536	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	43	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Leu178Arg	VAR_026027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026027	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	47	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Leu178Arg	VAR_026027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026027	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	29	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Leu178Arg	VAR_026027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026027	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	53	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Gly181Ala	VAR_007826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007826	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	50	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Gly181Ala	VAR_007826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007826	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	34	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Gly181Ala	VAR_007826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007826	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	56	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Gly181Ala	VAR_007826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007826	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	50	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Gly181Ala	VAR_007826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007826	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	34	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Gly181Ala	VAR_007826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007826	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	56	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Arg183Ser	VAR_007827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007827	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	52	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Arg183Ser	VAR_007827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007827	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	36	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Arg183Ser	VAR_007827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007827	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	59	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Ile185Thr	VAR_026028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026028	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	54	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Ile185Thr	VAR_026028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026028	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	38	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Ile185Thr	VAR_026028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026028	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	61	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Tyr206Asp	VAR_007829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007829	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	75	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Tyr206Asp	VAR_007829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007829	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	61	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Tyr206Asp	VAR_007829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007829	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	86	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Tyr206His	VAR_007828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007828	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	75	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Tyr206His	VAR_007828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007828	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	61	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Tyr206His	VAR_007828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007828	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	86	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Tyr206His	VAR_007828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007828	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	75	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Tyr206His	VAR_007828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007828	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	61	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Tyr206His	VAR_007828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007828	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	86	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Arg259Cys	VAR_026029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026029	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	4	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Arg259Leu	VAR_007830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007830	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	4	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Arg267Cys	VAR_007831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007831	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	7	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Arg267Cys	VAR_007831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007831	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	12	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Pro272Leu	VAR_026030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026030	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	12	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Pro272Leu	VAR_026030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026030	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	17	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Pro272Arg	VAR_007832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007832	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	12	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Pro272Arg	VAR_007832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007832	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	17	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Arg273Trp	VAR_007833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007833	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	13	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Arg273Trp	VAR_007833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007833	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	18	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Arg273Trp	VAR_007833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007833	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	13	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Arg273Trp	VAR_007833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007833	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	18	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Arg277His	VAR_026031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026031	rs56030372 Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	17	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Arg277His	VAR_026031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026031	rs56030372 Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	22	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Asn281Ile	VAR_026033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026033	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	21	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Asn281Ile	VAR_026033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026033	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	4	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Asn281Ile	VAR_026033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026033	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	26	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Asn281Lys	VAR_007834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007834	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	21	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Asn281Lys	VAR_007834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007834	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	4	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Asn281Lys	VAR_007834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007834	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	26	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Thr284Ala	VAR_026034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026034	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	24	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Thr284Ala	VAR_026034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026034	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	8	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Thr284Ala	VAR_026034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026034	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	29	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Thr284Arg	VAR_007835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007835	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	24	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Thr284Arg	VAR_007835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007835	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	8	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Thr284Arg	VAR_007835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007835	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	29	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Thr284Arg	VAR_007835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007835	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	24	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Thr284Arg	VAR_007835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007835	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	8	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Thr284Arg	VAR_007835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007835	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	29	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Ile295Thr	VAR_007836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007836	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	36	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Ile295Thr	VAR_007836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007836	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	19	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Ile295Thr	VAR_007836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007836	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	41	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Thr303Ile	VAR_007837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007837	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	48	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Thr303Ile	VAR_007837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007837	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	31	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Thr303Ile	VAR_007837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007837	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	53	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Gly304Glu	VAR_007838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007838	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	49	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Gly304Glu	VAR_007838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007838	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	32	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Gly304Glu	VAR_007838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007838	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	54	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Gly304Val	VAR_026035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026035	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	49	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Gly304Val	VAR_026035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026035	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	32	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Gly304Val	VAR_026035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026035	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	54	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Val317Ile	VAR_007839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007839	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	62	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Val317Ile	VAR_007839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007839	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	48	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Val317Ile	VAR_007839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007839	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	72	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Phe324Leu	VAR_026036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026036	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	69	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Phe324Leu	VAR_026036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026036	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	55	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Phe324Leu	VAR_026036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026036	- Lissencephaly X-linked type 1 (LISX1) [MIM:300067]	SWISS	79	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Ile331Asn	VAR_007840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007840	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	76	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Ile331Asn	VAR_007840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007840	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	62	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Ile331Asn	VAR_007840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007840	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	87	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Ile331Thr	VAR_007841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007841	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	76	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Ile331Thr	VAR_007841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007841	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	62	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Ile331Thr	VAR_007841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007841	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	87	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Ala332Ser	VAR_026037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026037	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	77	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Ala332Ser	VAR_026037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026037	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	63	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Ala332Ser	VAR_026037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026037	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	88	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Ala332Val	VAR_026038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026038	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	77	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Ala332Val	VAR_026038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026038	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	63	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Ala332Val	VAR_026038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026038	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	88	smart00537	30181246,NP_000546
1641	215274172	Disease	p.Gly334Asp	VAR_007842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007842	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	79	cd01617	30181246,NP_000546
1641	215274172	Disease	p.Gly334Asp	VAR_007842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007842	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	66	pfam03607	30181246,NP_000546
1641	215274172	Disease	p.Gly334Asp	VAR_007842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007842	- Subcortical band heterotopia X-linked (SBHX) [MIM:300067]	SWISS	90	smart00537	30181246,NP_000546
1643	12230033	Disease	p.Lys244Glu	VAR_010141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010141	- Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740]	SWISS	39	smart00320	4557515,NP_000098
1643	12230033	Disease	p.Lys244Glu	VAR_010141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010141	- Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740]	SWISS	14	pfam00400	4557515,NP_000098
1643	12230033	Disease	p.Lys244Glu	VAR_010141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010141	- Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740]	SWISS	386	cd00200	4557515,NP_000098
1643	12230033	Disease	p.Arg273His	VAR_010142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010142	- Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740]	SWISS	446	cd00200	4557515,NP_000098
1644	311033369	Disease	p.Pro47His	VAR_046137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046137	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	16	pfam00282	NULL
1644	311033369	Disease	p.Pro47His	VAR_046137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046137	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	34	COG0076	NULL
1644	311033369	Disease	p.Ala91Val	VAR_046138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046138	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	60	pfam00282	NULL
1644	311033369	Disease	p.Ala91Val	VAR_046138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046138	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	18	cd06450	NULL
1644	311033369	Disease	p.Ala91Val	VAR_046138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046138	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	80	COG0076	NULL
1644	311033369	Disease	p.Gly102Ser	VAR_019309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019309	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	71	pfam00282	NULL
1644	311033369	Disease	p.Gly102Ser	VAR_019309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019309	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	29	cd06450	NULL
1644	311033369	Disease	p.Gly102Ser	VAR_019309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019309	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	91	COG0076	NULL
1644	311033369	Disease	p.Ser147Arg	VAR_046139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046139	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	117	pfam00282	NULL
1644	311033369	Disease	p.Ser147Arg	VAR_046139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046139	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	35	cd01494	NULL
1644	311033369	Disease	p.Ser147Arg	VAR_046139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046139	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	79	cd06450	NULL
1644	311033369	Disease	p.Ser147Arg	VAR_046139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046139	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	150	COG0076	NULL
1644	311033369	Disease	p.Ser250Phe	VAR_046140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046140	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	227	pfam00282	NULL
1644	311033369	Disease	p.Ser250Phe	VAR_046140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046140	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	177	cd01494	NULL
1644	311033369	Disease	p.Ser250Phe	VAR_046140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046140	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	195	cd06450	NULL
1644	311033369	Disease	p.Ser250Phe	VAR_046140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046140	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	265	COG0076	NULL
1644	311033369	Disease	p.Ala275Thr	VAR_046141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046141	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	258	pfam00282	NULL
1644	311033369	Disease	p.Ala275Thr	VAR_046141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046141	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	206	cd01494	NULL
1644	311033369	Disease	p.Ala275Thr	VAR_046141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046141	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	226	cd06450	NULL
1644	311033369	Disease	p.Ala275Thr	VAR_046141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046141	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	300	COG0076	NULL
1644	311033369	Disease	p.Phe309Leu	VAR_046142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046142	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	295	pfam00282	NULL
1644	311033369	Disease	p.Phe309Leu	VAR_046142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046142	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	258	cd01494	NULL
1644	311033369	Disease	p.Phe309Leu	VAR_046142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046142	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	266	cd06450	NULL
1644	311033369	Disease	p.Phe309Leu	VAR_046142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046142	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	354	COG0076	NULL
1644	311033369	Disease	p.Arg347Gln	VAR_046143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046143	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	333	pfam00282	NULL
1644	311033369	Disease	p.Arg347Gln	VAR_046143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046143	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	305	cd06450	NULL
1644	311033369	Disease	p.Arg347Gln	VAR_046143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046143	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	395	COG0076	NULL
1644	311033369	Disease	p.Leu408Ile	VAR_046144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046144	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	400	pfam00282	NULL
1644	311033369	Disease	p.Leu408Ile	VAR_046144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046144	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	370	cd06450	NULL
1644	311033369	Disease	p.Leu408Ile	VAR_046144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046144	- Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]	SWISS	486	COG0076	NULL
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	143	cd06612	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	134	cd06653	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	131	cd06613	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	129	cd06640	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	129	cd06642	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	129	cd06641	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	134	cd06620	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	141	cd06624	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	267	cd05055	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	162	cd05099	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	140	cd06610	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	244	cd05581	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	134	cd08529	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	136	cd06628	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	154	cd07838	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	138	cd06629	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	162	cd07851	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	165	cd05101	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	152	cd07865	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	127	cd07839	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	138	cd08220	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	129	cd07846	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	150	cd07833	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	140	cd05047	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	130	cd05060	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	123	cd05116	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	126	cd05570	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	137	cd05118	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	129	cd07831	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	337	cd00192	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	130	cd05078	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	147	cd05037	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	145	cd05076	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	133	cd05077	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	147	cd06632	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	122	cd05084	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	124	cd05041	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	138	cd05044	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	131	cd05042	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	146	cd07837	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	133	cd05087	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	122	cd05085	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	132	cd05040	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	128	cd05086	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	133	cd05058	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	270	cd05107	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	268	cd05105	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	168	cd05098	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	135	cd08224	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	135	cd08222	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	169	cd08217	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	177	cd07840	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	130	cd06626	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	171	cd08215	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	146	cd07843	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	143	cd06622	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	252	cd05104	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	128	cd08219	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	171	cd07834	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	131	cd06630	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	131	cd07836	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	164	cd05056	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	146	cd05036	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	146	cd07864	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	144	cd06648	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	149	cd07845	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	143	cd06634	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	178	cd05053	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	206	cd05102	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	148	cd05093	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	130	cd05071	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	208	cd05103	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	151	cd05094	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	161	cd05050	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	214	cd05046	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	169	cd05095	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	147	cd05062	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	184	cd05096	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	150	cd05092	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	133	cd06611	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	189	cd05051	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	159	cd05097	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	155	cd05049	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	192	cd05032	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	136	cd05063	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	135	cd05064	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	256	cd05054	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	132	cd05052	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	162	cd05100	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	148	cd05061	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	130	cd05082	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	133	cd05148	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	155	cd05048	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	131	cd05072	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	152	cd05091	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	131	cd05034	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	130	cd05070	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	152	cd05090	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	130	cd05067	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	133	cd05068	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	134	cd05039	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	131	cd05073	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	130	cd05069	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	145	cd06659	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	180	cd06614	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	129	cd05578	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	170	cd05043	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	134	cd08530	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	128	cd07860	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	151	cd08528	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	145	cd07841	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	130	cd05631	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	130	cd05630	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	130	cd05605	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	130	cd05632	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	143	cd07832	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	132	cd06631	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	209	cd06606	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	135	cd06627	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	134	cd08229	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	130	cd08223	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	137	cd07857	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	162	cd05122	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	232	cd07842	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	134	cd08228	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	155	cd05045	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	153	cd06635	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	219	pfam00069	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	154	cd07835	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	425	smart00219	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	130	cd07861	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	180	cd07830	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	284	pfam07714	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	134	cd06651	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	141	cd05074	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	155	cd05075	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	151	cd05035	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	151	cd05574	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	147	cd05089	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	168	cd07829	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	640	smart00221	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	250	cd05106	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	137	cd05079	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	130	cd05059	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	129	cd05113	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	128	cd05112	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	128	cd05114	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	135	cd05080	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	136	cd05081	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	166	cd05033	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	134	cd05066	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	156	cd05038	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	152	cd05088	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	128	cd05083	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	159	cd07866	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	130	cd06615	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	132	cd07873	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	133	cd06617	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	182	cd05580	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	138	cd06917	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	151	cd06609	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	138	cd06621	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	134	cd07847	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	129	cd08218	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	132	cd07872	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	176	cd06623	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	144	cd06619	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	146	cd06605	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	137	cd05108	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	585	COG0515	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	129	cd05612	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	131	cd07871	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	190	cd05057	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	137	cd05111	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	124	cd05579	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	130	cd08221	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	369	cd00180	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	196	cd05572	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	644	cd05123	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	125	cd05608	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	128	cd05577	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	137	cd05110	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	134	cd06625	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	123	cd05115	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	139	cd07863	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	430	smart00220	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	137	cd05109	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	134	cd05065	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	131	cd07870	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Thr713Ile	VAR_063050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063050	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	132	cd07844	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	156	cd06612	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	147	cd06653	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	144	cd06613	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	142	cd06640	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	142	cd06642	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	142	cd06641	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	147	cd06620	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	155	cd06624	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	280	cd05055	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	175	cd05099	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	153	cd06610	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	257	cd05581	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	147	cd08529	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	149	cd06628	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	168	cd07838	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	151	cd06629	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	175	cd07851	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	178	cd05101	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	165	cd07865	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	140	cd07839	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	152	cd08220	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	142	cd07846	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	168	cd07833	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	153	cd05047	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	143	cd05060	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	136	cd05116	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	139	cd05570	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	150	cd05118	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	148	cd07831	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	361	cd00192	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	151	cd05078	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	168	cd05037	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	165	cd05076	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	153	cd05077	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	160	cd06632	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	135	cd05084	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	137	cd05041	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	158	cd05044	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	144	cd05042	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	160	cd07837	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	146	cd05087	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	135	cd05085	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	149	cd05040	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	141	cd05086	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	146	cd05058	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	283	cd05107	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	281	cd05105	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	181	cd05098	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	148	cd08224	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	147	cd08222	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	212	cd08217	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	191	cd07840	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	144	cd06626	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	201	cd08215	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	160	cd07843	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	157	cd06622	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	265	cd05104	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	141	cd08219	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	187	cd07834	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	145	cd06630	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	144	cd07836	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	177	cd05056	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	162	cd05036	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	159	cd07864	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	157	cd06648	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	162	cd07845	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	156	cd06634	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	191	cd05053	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	219	cd05102	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	161	cd05093	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	143	cd05071	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	221	cd05103	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	164	cd05094	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	174	cd05050	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	227	cd05046	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	182	cd05095	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	160	cd05062	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	208	cd05096	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	163	cd05092	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	146	cd06611	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	206	cd05051	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	172	cd05097	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	173	cd05049	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	205	cd05032	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	149	cd05063	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	148	cd05064	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	269	cd05054	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	145	cd05052	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	175	cd05100	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	161	cd05061	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	143	cd05082	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	146	cd05148	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	168	cd05048	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	144	cd05072	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	165	cd05091	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	148	cd05034	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	143	cd05070	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	165	cd05090	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	143	cd05067	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	146	cd05068	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	147	cd05039	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	144	cd05073	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	143	cd05069	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	158	cd06659	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	193	cd06614	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	142	cd05578	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	186	cd05043	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	150	cd08530	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	141	cd07860	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	164	cd08528	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	158	cd07841	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	143	cd05631	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	143	cd05630	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	143	cd05605	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	143	cd05632	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	161	cd07832	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	145	cd06631	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	231	cd06606	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	151	cd06627	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	147	cd08229	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	143	cd08223	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	150	cd07857	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	176	cd05122	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	251	cd07842	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	147	cd08228	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	168	cd05045	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	166	cd06635	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	252	pfam00069	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	168	cd07835	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	454	smart00219	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	143	cd07861	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	217	cd07830	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	316	pfam07714	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	147	cd06651	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	154	cd05074	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	168	cd05075	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	164	cd05035	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	164	cd05574	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	160	cd05089	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	191	cd07829	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	724	smart00221	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	263	cd05106	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	150	cd05079	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	143	cd05059	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	142	cd05113	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	141	cd05112	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	141	cd05114	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	148	cd05080	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	149	cd05081	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	179	cd05033	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	147	cd05066	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	173	cd05038	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	165	cd05088	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	141	cd05083	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	172	cd07866	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	143	cd06615	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	145	cd07873	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	146	cd06617	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	195	cd05580	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	152	cd06917	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	165	cd06609	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	151	cd06621	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	147	cd07847	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	142	cd08218	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	145	cd07872	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	190	cd06623	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	157	cd06619	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	160	cd06605	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	150	cd05108	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	661	COG0515	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	142	cd05612	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	144	cd07871	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	203	cd05057	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	150	cd05111	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	137	cd05579	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	143	cd08221	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	441	cd00180	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	209	cd05572	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	657	cd05123	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	138	cd05608	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	141	cd05577	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	150	cd05110	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	147	cd06625	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	136	cd05115	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	152	cd07863	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	509	smart00220	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	150	cd05109	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	147	cd05065	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	144	cd07870	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Ile726Arg	VAR_063051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063051	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	145	cd07844	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	181	cd06612	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	173	cd06653	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	168_G	cd06613	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	166	cd06640	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	166	cd06642	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	166	cd06641	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	169	cd06620	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	179	cd06624	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	306	cd05055	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	201	cd05099	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	179	cd06610	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	393	cd05581	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	171_G	cd08529	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	181	cd06628	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	198	cd07838	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	178	cd06629	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	198	cd07851	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	204	cd05101	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	231	cd07865	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	163_G	cd07839	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	175_G	cd08220	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	166	cd07846	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	212	cd07833	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	176	cd05047	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	170	cd05060	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	163	cd05116	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	163	cd05570	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	176	cd05118	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	170	cd07831	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	396	cd00192	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	171	cd05078	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	190	cd05037	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	185	cd05076	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	173	cd05077	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	187_G	cd06632	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	161	cd05084	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	163	cd05041	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	184	cd05044	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	171	cd05042	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	174	cd07837	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	172	cd05087	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	160	cd05085	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	178	cd05040	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	167	cd05086	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	174	cd05058	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	309	cd05107	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	307	cd05105	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	207	cd05098	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	172_G	cd08224	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	171_G	cd08222	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	237_G	cd08217	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	303	cd07840	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	196	cd06626	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	234_G	cd08215	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	176	cd07843	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	185	cd06622	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	291	cd05104	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	168	cd08219	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	254_G	cd07834	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	174	cd06630	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	167_G	cd07836	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	204	cd05056	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	189	cd05036	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	184_G	cd07864	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	181_G	cd06648	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	188	cd07845	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	176	cd06634	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	217	cd05053	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	245	cd05102	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	187	cd05093	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	168	cd05071	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	247	cd05103	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	197	cd05094	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	200	cd05050	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	252	cd05046	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	208	cd05095	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	186	cd05062	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	234	cd05096	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	189	cd05092	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	170_G	cd06611	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	237	cd05051	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	198	cd05097	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	199	cd05049	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	231	cd05032	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	176	cd05063	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	174	cd05064	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	296	cd05054	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	170	cd05052	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	201	cd05100	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	187	cd05061	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	164	cd05082	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	171	cd05148	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	194	cd05048	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	169	cd05072	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	191	cd05091	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	179	cd05034	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	168	cd05070	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	191	cd05090	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	168	cd05067	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	174	cd05068	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	171	cd05039	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	169	cd05073	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	168	cd05069	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	182_G	cd06659	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	219_G	cd06614	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	171_G	cd05578	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	212	cd05043	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	173	cd08530	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	164_G	cd07860	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	188	cd08528	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	192	cd07841	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	166	cd05631	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	166	cd05630	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	166	cd05605	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	166	cd05632	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	187	cd07832	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	171	cd06631	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	281	cd06606	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	208	cd06627	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	171_G	cd08229	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	167	cd08223	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	181	cd07857	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	205_G	cd05122	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	265	cd07842	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	171_G	cd08228	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	194	cd05045	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	186	cd06635	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	294	pfam00069	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	192	cd07835	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	552	smart00219	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	167	cd07861	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	244_G	cd07830	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	347	pfam07714	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	173	cd06651	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	180	cd05074	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	194	cd05075	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	190	cd05035	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	240	cd05574	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	183	cd05089	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	205	cd07829	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	860	smart00221	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	289	cd05106	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	177	cd05079	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	168	cd05059	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	167	cd05113	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	166	cd05112	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	166	cd05114	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	175	cd05080	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	176	cd05081	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	210	cd05033	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	174	cd05066	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	200	cd05038	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	188	cd05088	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	162	cd05083	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	205	cd07866	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	165	cd06615	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	168_G	cd07873	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	169	cd06617	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	218	cd05580	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	178_G	cd06917	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	194_G	cd06609	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	165	cd06621	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	171	cd07847	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	166	cd08218	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	168_G	cd07872	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	219_G	cd06623	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	179	cd06619	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	185_G	cd06605	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	176	cd05108	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	802	COG0515	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	163	cd05612	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	167_G	cd07871	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	230	cd05057	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	176	cd05111	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	302	cd05579	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	169_G	cd08221	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	625	cd00180	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	236	cd05572	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	685	cd05123	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	162_G	cd05608	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	165	cd05577	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	176	cd05110	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	170	cd06625	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	163	cd05115	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	175	cd07863	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	664	smart00220	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	176	cd05109	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	176	cd05065	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	184	cd07870	62420884,NP_006173|62420886,NP_001014796
4921	215273969	Disease	p.Arg752Cys	VAR_063052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063052	- Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]	SWISS	168_G	cd07844	62420884,NP_006173|62420886,NP_001014796
1674	6686280	Disease	p.Ser2Ile	VAR_042448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042448	rs58999456 Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	No Domain	N/A	55749932,NP_001918
1674	6686280	Disease	p.Ser46Phe	VAR_042449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042449	rs60794845 Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	45	pfam04732	55749932,NP_001918
1674	6686280	Disease	p.Ser46Tyr	VAR_042450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042450	- Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	45	pfam04732	55749932,NP_001918
1674	6686280	Disease	p.Ala213Val	VAR_042451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042451	rs41272699 Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	159	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Glu245Asp	VAR_042452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042452	- Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	191	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Ala337Pro	VAR_007900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007900	rs59962885 Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	301	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Asn342Asp	VAR_042453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042453	- Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	310	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Leu345Pro	VAR_009189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009189	rs57639980 Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	313	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Arg350Pro	VAR_042454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042454	rs57965306 Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	318	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Arg350Pro	VAR_042454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042454	rs57965306 Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400]	SWISS	318	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Arg355Pro	VAR_042455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042455	rs61368398 Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	323	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Ala357Pro	VAR_042456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042456	rs58898021 Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	325	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Ala360Pro	VAR_007901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007901	- Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	328	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Leu370Pro	VAR_042457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042457	rs59308628 Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	338	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Leu385Pro	VAR_018771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018771	rs57955682 Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	353	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Gln389Pro	VAR_018772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018772	rs28930075 Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	357	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Asn393Ile	VAR_007902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007902	- Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	361	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Arg406Trp	VAR_042458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042458	rs61726465 Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	374	pfam00038	55749932,NP_001918
1674	6686280	Disease	p.Thr442Ile	VAR_042459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042459	- Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	No Domain	N/A	55749932,NP_001918
1674	6686280	Disease	p.Lys449Met	VAR_042460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042460	- Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	No Domain	N/A	55749932,NP_001918
1674	6686280	Disease	p.Lys449Thr	VAR_042461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042461	- Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	No Domain	N/A	55749932,NP_001918
1674	6686280	Disease	p.Ile451Met	VAR_018773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018773	- Cardiomyopathy dilated type 1I (CMD1I) [MIM:604765]	SWISS	No Domain	N/A	55749932,NP_001918
1674	6686280	Disease	p.Arg454Trp	VAR_042462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042462	- Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	No Domain	N/A	55749932,NP_001918
1674	6686280	Disease	p.Ser460Ile	VAR_042463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042463	- Myopathy myofibrillar desmin-related (MFM-DES) [MIM:601419]	SWISS	No Domain	N/A	55749932,NP_001918
1716	23503050	Disease	p.Arg142Lys	VAR_019417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019417	- Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]	SWISS	94	COG1428	18426967,NP_550438
1716	23503050	Disease	p.Arg142Lys	VAR_019417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019417	- Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]	SWISS	146	cd02019	18426967,NP_550438
1716	23503050	Disease	p.Arg142Lys	VAR_019417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019417	- Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]	SWISS	124	cd01673	18426967,NP_550438
1716	23503050	Disease	p.Arg142Lys	VAR_019417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019417	- Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]	SWISS	109	cd02030	18426967,NP_550438
1716	23503050	Disease	p.Arg142Lys	VAR_019417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019417	- Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]	SWISS	33	pfam01712	18426967,NP_550438
1716	23503050	Disease	p.Glu227Lys	VAR_019418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019418	- Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]	SWISS	189	COG1428	18426967,NP_550438
1716	23503050	Disease	p.Glu227Lys	VAR_019418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019418	- Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]	SWISS	255	cd02019	18426967,NP_550438
1716	23503050	Disease	p.Glu227Lys	VAR_019418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019418	- Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]	SWISS	249	cd01673	18426967,NP_550438
1716	23503050	Disease	p.Glu227Lys	VAR_019418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019418	- Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]	SWISS	240	cd02030	18426967,NP_550438
1716	23503050	Disease	p.Glu227Lys	VAR_019418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019418	- Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]	SWISS	139	pfam01712	18426967,NP_550438
1716	23503050	Disease	p.Leu250Ser	VAR_023789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023789	- Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]	SWISS	203	COG1428	18426967,NP_550438
1716	23503050	Disease	p.Leu250Ser	VAR_023789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023789	- Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]	SWISS	278	cd02019	18426967,NP_550438
1716	23503050	Disease	p.Leu250Ser	VAR_023789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023789	- Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]	SWISS	304	cd01673	18426967,NP_550438
1716	23503050	Disease	p.Leu250Ser	VAR_023789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023789	- Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]	SWISS	162	pfam01712	18426967,NP_550438
1718	20141421	Disease	p.Glu191Lys	VAR_012732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012732	rs28939093 Desmosterolosis [MIM:602398]	SWISS	173	pfam01565	13375618,NP_055577
1718	20141421	Disease	p.Asn294Thr	VAR_012733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012733	- Desmosterolosis [MIM:602398]	SWISS	No Domain	N/A	13375618,NP_055577
1718	20141421	Disease	p.Lys306Asn	VAR_012734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012734	- Desmosterolosis [MIM:602398]	SWISS	No Domain	N/A	13375618,NP_055577
1718	20141421	Disease	p.Tyr471Ser	VAR_012735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012735	rs28939092 Desmosterolosis [MIM:602398]	SWISS	No Domain	N/A	13375618,NP_055577
1717	20138066	Disease	p.Pro51Ser	VAR_012717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012717	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	22	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Leu68Pro	VAR_023148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023148	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	45	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Thr93Met	VAR_012718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012718	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	77	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Leu99Pro	VAR_012719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012719	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	83	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Gln107His	VAR_023149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023149	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	91	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Leu109Pro	VAR_023150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023150	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	93	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Ser113Cys	VAR_023151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023151	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	96_G	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.His119Leu	VAR_012720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012720	rs28938174 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	96_G	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Gly138Val	VAR_023152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023152	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	113	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Ile145Leu	VAR_023153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023153	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	120	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Gly147Asp	VAR_023154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023154	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	122	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Thr154Met	VAR_023155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023155	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	131	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Leu157Pro	VAR_012721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012721	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	134	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Ser169Leu	VAR_023156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023156	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	146	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Trp182Cys	VAR_023157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023157	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	159	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Trp182Leu	VAR_023158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023158	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	159	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Cys183Tyr	VAR_023159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023159	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	160	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Lys198Glu	VAR_023160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023160	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	175	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Phe235Ser	VAR_023161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023161	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	227	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Arg242Cys	VAR_023162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023162	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	234	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Arg242His	VAR_023163	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023163	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	234	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Gly244Arg	VAR_012722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012722	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	236	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Ala247Val	VAR_012723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012723	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	239	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Trp248Cys	VAR_012724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012724	rs28939698 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	240	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Phe255Leu	VAR_023164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023164	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	247	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Val281Met	VAR_023165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023165	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	275	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Thr289Ile	VAR_012725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012725	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	283	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Ile297Thr	VAR_023166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023166	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	291	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Cys311Gly	VAR_023167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023167	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	305	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Cys311Tyr	VAR_023168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023168	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	305	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Tyr324His	VAR_023169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023169	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	318	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Val326Leu	VAR_012726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012726	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	320	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Gly344Arg	VAR_023170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023170	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	341	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Arg352Gln	VAR_023171	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023171	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	349	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Arg352Trp	VAR_012727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012727	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	349	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Val353Ala	VAR_023172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023172	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	350	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Arg362Cys	VAR_023173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023173	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	359	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Cys380Arg	VAR_023174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023174	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	388	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Cys380Ser	VAR_012728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012728	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	388	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Cys380Tyr	VAR_023175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023175	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	388	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Ser397Leu	VAR_023176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023176	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	397	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Arg404Cys	VAR_012729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012729	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	404	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Arg404Ser	VAR_023177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023177	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	404	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.His405Tyr	VAR_023178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023178	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	405	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Tyr408His	VAR_023179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023179	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	408	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Gly410Arg	VAR_023180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023180	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	410	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Gly410Ser	VAR_012730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012730	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	410	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.His426Pro	VAR_023181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023181	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	458	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Arg443Cys	VAR_023182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023182	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	475	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Arg446Gln	VAR_023183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023183	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	478	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Glu448Lys	VAR_016975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016975	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	480	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Glu448Gln	VAR_023184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023184	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	480	pfam01222	255308875,NP_001157289|119943112,NP_001351
1717	20138066	Disease	p.Arg450Leu	VAR_023185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023185	- Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	SWISS	482	pfam01222	255308875,NP_001157289|119943112,NP_001351
50846	6166118	Disease	p.Leu162Pro	VAR_054873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054873	- Complete pure gonadal dysgenesis 46,XY type (GDXYM) [MIM:233420]	SWISS	123	pfam01085	19482158,NP_066382
1723	56405372	Disease	p.Gly19Glu	VAR_062412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062412	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	No Domain	N/A	45006951,NP_001352
1723	56405372	Disease	p.Arg135Cys	VAR_062413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062413	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	60	pfam01180	45006951,NP_001352
1723	56405372	Disease	p.Arg135Cys	VAR_062413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062413	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	101	COG0167	45006951,NP_001352
1723	56405372	Disease	p.Arg135Cys	VAR_062413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062413	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	61	cd02810	45006951,NP_001352
1723	56405372	Disease	p.Arg135Cys	VAR_062413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062413	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	58	cd04741	45006951,NP_001352
1723	56405372	Disease	p.Arg135Cys	VAR_062413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062413	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	115	cd04738	45006951,NP_001352
1723	56405372	Disease	p.Arg135Cys	VAR_062413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062413	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	62	cd02940	45006951,NP_001352
1723	56405372	Disease	p.Arg135Cys	VAR_062413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062413	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	66	cd04740	45006951,NP_001352
1723	56405372	Disease	p.Gly152Arg	VAR_062414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062414	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	77	pfam01180	45006951,NP_001352
1723	56405372	Disease	p.Gly152Arg	VAR_062414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062414	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	118	COG0167	45006951,NP_001352
1723	56405372	Disease	p.Gly152Arg	VAR_062414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062414	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	112	cd02810	45006951,NP_001352
1723	56405372	Disease	p.Gly152Arg	VAR_062414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062414	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	93	cd04741	45006951,NP_001352
1723	56405372	Disease	p.Gly152Arg	VAR_062414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062414	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	132	cd04738	45006951,NP_001352
1723	56405372	Disease	p.Gly152Arg	VAR_062414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062414	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	82	cd02940	45006951,NP_001352
1723	56405372	Disease	p.Gly152Arg	VAR_062414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062414	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	83	cd04740	45006951,NP_001352
1723	56405372	Disease	p.Arg199Cys	VAR_062415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062415	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	153	pfam01180	45006951,NP_001352
1723	56405372	Disease	p.Arg199Cys	VAR_062415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062415	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	194	COG0167	45006951,NP_001352
1723	56405372	Disease	p.Arg199Cys	VAR_062415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062415	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	161	cd02810	45006951,NP_001352
1723	56405372	Disease	p.Arg199Cys	VAR_062415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062415	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	151	cd04741	45006951,NP_001352
1723	56405372	Disease	p.Arg199Cys	VAR_062415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062415	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	232	cd04738	45006951,NP_001352
1723	56405372	Disease	p.Arg199Cys	VAR_062415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062415	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	131	cd02940	45006951,NP_001352
1723	56405372	Disease	p.Arg199Cys	VAR_062415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062415	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	122	cd04740	45006951,NP_001352
1723	56405372	Disease	p.Gly202Ala	VAR_062416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062416	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	156	pfam01180	45006951,NP_001352
1723	56405372	Disease	p.Gly202Ala	VAR_062416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062416	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	197	COG0167	45006951,NP_001352
1723	56405372	Disease	p.Gly202Ala	VAR_062416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062416	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	164	cd02810	45006951,NP_001352
1723	56405372	Disease	p.Gly202Ala	VAR_062416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062416	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	154	cd04741	45006951,NP_001352
1723	56405372	Disease	p.Gly202Ala	VAR_062416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062416	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	235	cd04738	45006951,NP_001352
1723	56405372	Disease	p.Gly202Ala	VAR_062416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062416	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	134	cd02940	45006951,NP_001352
1723	56405372	Disease	p.Gly202Ala	VAR_062416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062416	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	125	cd04740	45006951,NP_001352
1723	56405372	Disease	p.Gly202Asp	VAR_062417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062417	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	156	pfam01180	45006951,NP_001352
1723	56405372	Disease	p.Gly202Asp	VAR_062417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062417	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	197	COG0167	45006951,NP_001352
1723	56405372	Disease	p.Gly202Asp	VAR_062417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062417	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	164	cd02810	45006951,NP_001352
1723	56405372	Disease	p.Gly202Asp	VAR_062417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062417	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	154	cd04741	45006951,NP_001352
1723	56405372	Disease	p.Gly202Asp	VAR_062417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062417	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	235	cd04738	45006951,NP_001352
1723	56405372	Disease	p.Gly202Asp	VAR_062417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062417	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	134	cd02940	45006951,NP_001352
1723	56405372	Disease	p.Gly202Asp	VAR_062417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062417	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	125	cd04740	45006951,NP_001352
1723	56405372	Disease	p.Arg244Trp	VAR_062418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062418	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	201	pfam01180	45006951,NP_001352
1723	56405372	Disease	p.Arg244Trp	VAR_062418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062418	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	244	COG0167	45006951,NP_001352
1723	56405372	Disease	p.Arg244Trp	VAR_062418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062418	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	217	cd02810	45006951,NP_001352
1723	56405372	Disease	p.Arg244Trp	VAR_062418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062418	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	222	cd04741	45006951,NP_001352
1723	56405372	Disease	p.Arg244Trp	VAR_062418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062418	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	280	cd04738	45006951,NP_001352
1723	56405372	Disease	p.Arg244Trp	VAR_062418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062418	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	188_G	cd02940	45006951,NP_001352
1723	56405372	Disease	p.Arg244Trp	VAR_062418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062418	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	169	cd04740	45006951,NP_001352
1723	56405372	Disease	p.Thr284Ile	VAR_062419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062419	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	286	pfam01180	45006951,NP_001352
1723	56405372	Disease	p.Thr284Ile	VAR_062419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062419	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	286	COG0167	45006951,NP_001352
1723	56405372	Disease	p.Thr284Ile	VAR_062419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062419	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	260	cd02810	45006951,NP_001352
1723	56405372	Disease	p.Thr284Ile	VAR_062419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062419	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	289	cd04741	45006951,NP_001352
1723	56405372	Disease	p.Thr284Ile	VAR_062419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062419	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	371	cd04738	45006951,NP_001352
1723	56405372	Disease	p.Thr284Ile	VAR_062419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062419	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	227	cd02940	45006951,NP_001352
1723	56405372	Disease	p.Thr284Ile	VAR_062419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062419	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	212	cd04740	45006951,NP_001352
1723	56405372	Disease	p.Arg346Trp	VAR_062420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062420	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	355	pfam01180	45006951,NP_001352
1723	56405372	Disease	p.Arg346Trp	VAR_062420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062420	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	357	COG0167	45006951,NP_001352
1723	56405372	Disease	p.Arg346Trp	VAR_062420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062420	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	334	cd02810	45006951,NP_001352
1723	56405372	Disease	p.Arg346Trp	VAR_062420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062420	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	385	cd04741	45006951,NP_001352
1723	56405372	Disease	p.Arg346Trp	VAR_062420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062420	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	456	cd04738	45006951,NP_001352
1723	56405372	Disease	p.Arg346Trp	VAR_062420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062420	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	302	cd02940	45006951,NP_001352
1723	56405372	Disease	p.Arg346Trp	VAR_062420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062420	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	285	cd04740	45006951,NP_001352
1723	56405372	Disease	p.Asp392Gly	VAR_062421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062421	- Postaxial acrofacial dysostosis (POADS) [MIM:263750]	SWISS	403	COG0167	45006951,NP_001352
1736	3913488	Disease	p.Ala2Val	VAR_010076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010076	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	No Domain	N/A	4503337,NP_001354
1736	3913488	Disease	p.Phe36Val	VAR_006811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006811	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	No Domain	N/A	4503337,NP_001354
1736	3913488	Disease	p.Ile38Thr	VAR_015674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015674	- Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]	SWISS	No Domain	N/A	4503337,NP_001354
1736	3913488	Disease	p.Lys39Glu	VAR_010077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010077	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	No Domain	N/A	4503337,NP_001354
1736	3913488	Disease	p.Pro40Arg	VAR_006813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006813	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	No Domain	N/A	4503337,NP_001354
1736	3913488	Disease	p.Glu41Lys	VAR_010078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010078	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	No Domain	N/A	4503337,NP_001354
1736	3913488	Disease	p.Thr49Met	VAR_015675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015675	- Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]	SWISS	2	pfam08068	4503337,NP_001354
1736	3913488	Disease	p.Arg65Thr	VAR_010079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010079	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	19	pfam08068	4503337,NP_001354
1736	3913488	Disease	p.Thr66Ala	VAR_010080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010080	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	20	pfam08068	4503337,NP_001354
1736	3913488	Disease	p.Leu72Tyr	VAR_006814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006814	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	5	COG0130	4503337,NP_001354
1736	3913488	Disease	p.Leu72Tyr	VAR_006814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006814	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	27	pfam08068	4503337,NP_001354
1736	3913488	Disease	p.Ser121Gly	VAR_015676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015676	- Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]	SWISS	38	cd02573	4503337,NP_001354
1736	3913488	Disease	p.Ser121Gly	VAR_015676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015676	- Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]	SWISS	83	cd00506	4503337,NP_001354
1736	3913488	Disease	p.Ser121Gly	VAR_015676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015676	- Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]	SWISS	34	cd02572	4503337,NP_001354
1736	3913488	Disease	p.Ser121Gly	VAR_015676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015676	- Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]	SWISS	81	cd01291	4503337,NP_001354
1736	3913488	Disease	p.Ser121Gly	VAR_015676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015676	- Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]	SWISS	84	COG0130	4503337,NP_001354
1736	3913488	Disease	p.Ser121Gly	VAR_015676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015676	- Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]	SWISS	27	pfam01509	4503337,NP_001354
1736	3913488	Disease	p.Leu321Val	VAR_010081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010081	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	376	cd02573	4503337,NP_001354
1736	3913488	Disease	p.Leu321Val	VAR_010081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010081	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	371	COG0130	4503337,NP_001354
1736	3913488	Disease	p.Leu321Val	VAR_010081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010081	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	27	smart00359	4503337,NP_001354
1736	3913488	Disease	p.Leu321Val	VAR_010081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010081	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	28	pfam01472	4503337,NP_001354
1736	3913488	Disease	p.Met350Ile	VAR_010082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010082	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	441	COG0130	4503337,NP_001354
1736	3913488	Disease	p.Met350Ile	VAR_010082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010082	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	75	smart00359	4503337,NP_001354
1736	3913488	Disease	p.Met350Ile	VAR_010082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010082	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	76	pfam01472	4503337,NP_001354
1736	3913488	Disease	p.Met350Thr	VAR_010083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010083	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	441	COG0130	4503337,NP_001354
1736	3913488	Disease	p.Met350Thr	VAR_010083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010083	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	75	smart00359	4503337,NP_001354
1736	3913488	Disease	p.Met350Thr	VAR_010083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010083	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	76	pfam01472	4503337,NP_001354
1736	3913488	Disease	p.Ala353Val	VAR_009264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009264	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	444	COG0130	4503337,NP_001354
1736	3913488	Disease	p.Ala353Val	VAR_009264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009264	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	78	smart00359	4503337,NP_001354
1736	3913488	Disease	p.Ala353Val	VAR_009264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009264	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	79	pfam01472	4503337,NP_001354
1736	3913488	Disease	p.Ala353Val	VAR_009264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009264	- Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]	SWISS	444	COG0130	4503337,NP_001354
1736	3913488	Disease	p.Ala353Val	VAR_009264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009264	- Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]	SWISS	78	smart00359	4503337,NP_001354
1736	3913488	Disease	p.Ala353Val	VAR_009264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009264	- Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]	SWISS	79	pfam01472	4503337,NP_001354
1736	3913488	Disease	p.Gly402Glu	VAR_006815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006815	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	No Domain	N/A	4503337,NP_001354
1736	3913488	Disease	p.Gly402Arg	VAR_010084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010084	- Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]	SWISS	No Domain	N/A	4503337,NP_001354
10683	12229810	Disease	p.Gly385Asp	VAR_009952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009952	- Spondylocostal dysostosis type 1 (SCDO1) [MIM:277300]	SWISS	67	cd00053	8393264,NP_058637
10683	12229810	Disease	p.Gly385Asp	VAR_009952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009952	- Spondylocostal dysostosis type 1 (SCDO1) [MIM:277300]	SWISS	68	smart00181	8393264,NP_058637
10683	12229810	Disease	p.Gly385Asp	VAR_009952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009952	- Spondylocostal dysostosis type 1 (SCDO1) [MIM:277300]	SWISS	80	smart00179	8393264,NP_058637
10683	12229810	Disease	p.Gly385Asp	VAR_009952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009952	- Spondylocostal dysostosis type 1 (SCDO1) [MIM:277300]	SWISS	71	cd00054	8393264,NP_058637
10683	12229810	Disease	p.Gly385Asp	VAR_009952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009952	- Spondylocostal dysostosis type 1 (SCDO1) [MIM:277300]	SWISS	48	pfam00008	8393264,NP_058637
1756	76803557	Disease	p.Lys18Asn	VAR_023537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023537	- Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045]	SWISS	2	smart00033	NULL
1756	76803557	Disease	p.Lys18Asn	VAR_023537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023537	- Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045]	SWISS	8	pfam00307	NULL
1756	76803557	Disease	p.Lys18Asn	VAR_023537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023537	- Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045]	SWISS	3	cd00014	NULL
1756	76803557	Disease	p.Lys18Asn	VAR_023537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023537	- Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045]	SWISS	11	COG5069	NULL
1756	76803557	Disease	p.Leu54Arg	VAR_005147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005147	- Duchenne muscular dystrophy (DMD) [MIM:310200]	SWISS	87	smart00033	NULL
1756	76803557	Disease	p.Leu54Arg	VAR_005147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005147	- Duchenne muscular dystrophy (DMD) [MIM:310200]	SWISS	129	pfam00307	NULL
1756	76803557	Disease	p.Leu54Arg	VAR_005147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005147	- Duchenne muscular dystrophy (DMD) [MIM:310200]	SWISS	50	cd00014	NULL
1756	76803557	Disease	p.Leu54Arg	VAR_005147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005147	- Duchenne muscular dystrophy (DMD) [MIM:310200]	SWISS	47	COG5069	NULL
1756	76803557	Disease	p.Ala168Asp	VAR_005149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005149	- Becker muscular dystrophy (BMD) [MIM:300376]	SWISS	82	smart00033	NULL
1756	76803557	Disease	p.Ala168Asp	VAR_005149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005149	- Becker muscular dystrophy (BMD) [MIM:300376]	SWISS	124	pfam00307	NULL
1756	76803557	Disease	p.Ala168Asp	VAR_005149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005149	- Becker muscular dystrophy (BMD) [MIM:300376]	SWISS	45	cd00014	NULL
1756	76803557	Disease	p.Ala168Asp	VAR_005149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005149	- Becker muscular dystrophy (BMD) [MIM:300376]	SWISS	186	COG5069	NULL
1756	76803557	Disease	p.Ala171Pro	VAR_023539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023539	- Becker muscular dystrophy (BMD) [MIM:300376]	SWISS	85	smart00033	NULL
1756	76803557	Disease	p.Ala171Pro	VAR_023539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023539	- Becker muscular dystrophy (BMD) [MIM:300376]	SWISS	127	pfam00307	NULL
1756	76803557	Disease	p.Ala171Pro	VAR_023539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023539	- Becker muscular dystrophy (BMD) [MIM:300376]	SWISS	48	cd00014	NULL
1756	76803557	Disease	p.Ala171Pro	VAR_023539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023539	- Becker muscular dystrophy (BMD) [MIM:300376]	SWISS	189	COG5069	NULL
1756	76803557	Disease	p.Tyr231Asn	VAR_005150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005150	- Becker muscular dystrophy (BMD) [MIM:300376]	SWISS	233	smart00033	NULL
1756	76803557	Disease	p.Tyr231Asn	VAR_005150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005150	- Becker muscular dystrophy (BMD) [MIM:300376]	SWISS	245	pfam00307	NULL
1756	76803557	Disease	p.Tyr231Asn	VAR_005150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005150	- Becker muscular dystrophy (BMD) [MIM:300376]	SWISS	131	cd00014	NULL
1756	76803557	Disease	p.Tyr231Asn	VAR_005150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005150	- Becker muscular dystrophy (BMD) [MIM:300376]	SWISS	254	COG5069	NULL
1756	76803557	Disease	p.Thr279Ala	VAR_023540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023540	- Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045]	SWISS	352	COG5069	NULL
1756	76803557	Disease	p.Asp645Gly	VAR_023541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023541	- Duchenne muscular dystrophy (DMD) [MIM:310200]	SWISS	No Domain	N/A	NULL
1756	76803557	Disease	p.Lys773Glu	VAR_005154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005154	- Duchenne muscular dystrophy (DMD) [MIM:310200]	SWISS	70	cd00176	NULL
1756	76803557	Disease	p.Lys773Glu	VAR_005154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005154	- Duchenne muscular dystrophy (DMD) [MIM:310200]	SWISS	100	smart00150	NULL
1756	76803557	Disease	p.Asn1672Lys	VAR_023542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023542	rs16990264 Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045]	SWISS	119	pfam00435	NULL
1756	76803557	Disease	p.Asn1672Lys	VAR_023542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023542	rs16990264 Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045]	SWISS	330	cd00176	NULL
1756	76803557	Disease	p.His2921Arg	VAR_005170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005170	rs1800279 Becker muscular dystrophy (BMD) [MIM:300376]	SWISS	324	cd00176	NULL
1756	76803557	Disease	p.His2921Arg	VAR_005170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005170	rs1800279 Becker muscular dystrophy (BMD) [MIM:300376]	SWISS	342	smart00150	NULL
1756	76803557	Disease	p.Phe3228Leu	VAR_023544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023544	- Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045]	SWISS	25	pfam09069	NULL
1756	76803557	Disease	p.Asp3335His	VAR_023546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023546	- Duchenne muscular dystrophy (DMD) [MIM:310200]	SWISS	32	smart00291	NULL
1756	76803557	Disease	p.Asp3335His	VAR_023546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023546	- Duchenne muscular dystrophy (DMD) [MIM:310200]	SWISS	29	pfam00569	NULL
1756	76803557	Disease	p.Asp3335His	VAR_023546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023546	- Duchenne muscular dystrophy (DMD) [MIM:310200]	SWISS	25	cd02334	NULL
1756	76803557	Disease	p.Asp3335His	VAR_023546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023546	- Duchenne muscular dystrophy (DMD) [MIM:310200]	SWISS	34	cd02249	NULL
1756	76803557	Disease	p.Cys3340Tyr	VAR_023547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023547	- Duchenne muscular dystrophy (DMD) [MIM:310200]	SWISS	37	smart00291	NULL
1756	76803557	Disease	p.Cys3340Tyr	VAR_023547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023547	- Duchenne muscular dystrophy (DMD) [MIM:310200]	SWISS	34	pfam00569	NULL
1756	76803557	Disease	p.Cys3340Tyr	VAR_023547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023547	- Duchenne muscular dystrophy (DMD) [MIM:310200]	SWISS	30	cd02334	NULL
1756	76803557	Disease	p.Cys3340Tyr	VAR_023547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023547	- Duchenne muscular dystrophy (DMD) [MIM:310200]	SWISS	39	cd02249	NULL
1756	76803557	Disease	p.Ala3421Val	VAR_005172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005172	- Becker muscular dystrophy (BMD) [MIM:300376]	SWISS	No Domain	N/A	NULL
29958	296434575	Disease	p.His109Arg	VAR_011505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011505	- DMGDH deficiency (DMGDHD) [MIM:605850]	SWISS	67	COG0578	24797151,NP_037523
29958	296434575	Disease	p.His109Arg	VAR_011505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011505	- DMGDH deficiency (DMGDHD) [MIM:605850]	SWISS	97	COG0665	24797151,NP_037523
29958	296434575	Disease	p.His109Arg	VAR_011505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011505	- DMGDH deficiency (DMGDHD) [MIM:605850]	SWISS	170	pfam01266	24797151,NP_037523
29958	296434575	Disease	p.His109Arg	VAR_011505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011505	- DMGDH deficiency (DMGDHD) [MIM:605850]	SWISS	71	COG0579	24797151,NP_037523
8701	311033455	Disease	p.Arg3004Gln	VAR_013859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013859	rs35865357 Primary ciliary dyskinesia type 7 (CILD7) [MIM:611884]	SWISS	No Domain	N/A	NULL
1767	116241343	Disease	p.Arg1716Leu	VAR_030705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030705	- Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]	SWISS	469	pfam08393	19115954,NP_001360
1767	116241343	Disease	p.Ser2264Asn	VAR_030706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030706	- Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]	SWISS	8	pfam07728	19115954,NP_001360
1767	116241343	Disease	p.Glu2347Lys	VAR_030707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030707	- Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]	SWISS	105	pfam07728	19115954,NP_001360
1767	116241343	Disease	p.Arg2501Pro	VAR_030708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030708	- Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]	SWISS	No Domain	N/A	19115954,NP_001360
1767	116241343	Disease	p.Phe2843Ser	VAR_030709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030709	- Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]	SWISS	No Domain	N/A	19115954,NP_001360
1767	116241343	Disease	p.Trp3409Ser	VAR_030710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030710	- Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]	SWISS	No Domain	N/A	19115954,NP_001360
1767	116241343	Disease	p.Gly3519Arg	VAR_019608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019608	- Kartagener syndrome (KTGS) [MIM:244400]	SWISS	No Domain	N/A	19115954,NP_001360
1767	116241343	Disease	p.Ser3843Leu	VAR_030711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030711	- Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]	SWISS	No Domain	N/A	19115954,NP_001360
1767	116241343	Disease	p.Gly4205Val	VAR_030712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030712	- Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]	SWISS	360	pfam03028	19115954,NP_001360
27019	12643888	Disease	p.Gly515Ser	VAR_016775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016775	- Kartagener syndrome (KTGS) [MIM:244400]	SWISS	832	COG2319	6912338,NP_036276
27019	12643888	Disease	p.Gly515Ser	VAR_016775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016775	- Kartagener syndrome (KTGS) [MIM:244400]	SWISS	573	cd00200	6912338,NP_036276
1785	47117856	Disease	p.Glu368Lys	VAR_031962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031962	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	180	pfam01031	56549121,NP_001005360
1785	47117856	Disease	p.Glu368Lys	VAR_031962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031962	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	368	COG0699	56549121,NP_001005360
1785	47117856	Disease	p.Arg369Gln	VAR_031963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031963	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	181	pfam01031	56549121,NP_001005360
1785	47117856	Disease	p.Arg369Gln	VAR_031963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031963	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	369	COG0699	56549121,NP_001005360
1785	47117856	Disease	p.Arg369Trp	VAR_031964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031964	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	181	pfam01031	56549121,NP_001005360
1785	47117856	Disease	p.Arg369Trp	VAR_031964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031964	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	369	COG0699	56549121,NP_001005360
1785	47117856	Disease	p.Arg465Trp	VAR_031965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031965	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	289	pfam01031	56549121,NP_001005360
1785	47117856	Disease	p.Arg465Trp	VAR_031965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031965	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	541	COG0699	56549121,NP_001005360
1785	47117856	Disease	p.Lys562Glu	VAR_031967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031967	- Charcot-Marie-Tooth disease dominant intermediate type B (CMTDIB) [MIM:606482]	SWISS	155	cd00821	56549121,NP_001005360
1785	47117856	Disease	p.Lys562Glu	VAR_031967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031967	- Charcot-Marie-Tooth disease dominant intermediate type B (CMTDIB) [MIM:606482]	SWISS	246	cd00900	56549121,NP_001005360
1785	47117856	Disease	p.Lys562Glu	VAR_031967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031967	- Charcot-Marie-Tooth disease dominant intermediate type B (CMTDIB) [MIM:606482]	SWISS	45	cd01252	56549121,NP_001005360
1785	47117856	Disease	p.Lys562Glu	VAR_031967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031967	- Charcot-Marie-Tooth disease dominant intermediate type B (CMTDIB) [MIM:606482]	SWISS	644	COG0699	56549121,NP_001005360
1785	47117856	Disease	p.Lys562Glu	VAR_031967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031967	- Charcot-Marie-Tooth disease dominant intermediate type B (CMTDIB) [MIM:606482]	SWISS	140	pfam00169	56549121,NP_001005360
1785	47117856	Disease	p.Lys562Glu	VAR_031967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031967	- Charcot-Marie-Tooth disease dominant intermediate type B (CMTDIB) [MIM:606482]	SWISS	333	smart00233	56549121,NP_001005360
1785	47117856	Disease	p.Lys562Glu	VAR_031967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031967	- Charcot-Marie-Tooth disease dominant intermediate type B (CMTDIB) [MIM:606482]	SWISS	43	cd01256	56549121,NP_001005360
1785	47117856	Disease	p.Ala618Thr	VAR_039041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039041	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	412	cd00821	56549121,NP_001005360
1785	47117856	Disease	p.Ala618Thr	VAR_039041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039041	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	462	cd00900	56549121,NP_001005360
1785	47117856	Disease	p.Ala618Thr	VAR_039041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039041	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	117	cd01252	56549121,NP_001005360
1785	47117856	Disease	p.Ala618Thr	VAR_039041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039041	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	705	COG0699	56549121,NP_001005360
1785	47117856	Disease	p.Ala618Thr	VAR_039041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039041	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	290	pfam00169	56549121,NP_001005360
1785	47117856	Disease	p.Ala618Thr	VAR_039041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039041	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	922	smart00233	56549121,NP_001005360
1785	47117856	Disease	p.Ala618Thr	VAR_039041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039041	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	101	cd01256	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Leu	VAR_039042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039042	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	413	cd00821	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Leu	VAR_039042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039042	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	463	cd00900	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Leu	VAR_039042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039042	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	118	cd01252	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Leu	VAR_039042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039042	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	706	COG0699	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Leu	VAR_039042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039042	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	291	pfam00169	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Leu	VAR_039042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039042	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	923	smart00233	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Leu	VAR_039042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039042	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	102	cd01256	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Trp	VAR_039043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039043	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	413	cd00821	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Trp	VAR_039043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039043	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	463	cd00900	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Trp	VAR_039043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039043	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	118	cd01252	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Trp	VAR_039043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039043	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	706	COG0699	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Trp	VAR_039043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039043	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	291	pfam00169	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Trp	VAR_039043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039043	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	923	smart00233	56549121,NP_001005360
1785	47117856	Disease	p.Ser619Trp	VAR_039043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039043	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	102	cd01256	56549121,NP_001005360
1785	47117856	Disease	p.Glu650Lys	VAR_062576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062576	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	3	smart00302	56549121,NP_001005360
1785	47117856	Disease	p.Glu650Lys	VAR_062576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062576	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	3	pfam02212	56549121,NP_001005360
1785	47117856	Disease	p.Glu650Lys	VAR_062576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062576	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	760	COG0699	56549121,NP_001005360
1789	17375667	Disease	p.Ser270Pro	VAR_022579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022579	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	58	pfam00855	5901940,NP_008823
1789	17375667	Disease	p.Ser270Pro	VAR_022579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022579	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	123	smart00293	5901940,NP_008823
1789	17375667	Disease	p.Ser270Pro	VAR_022579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022579	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	72	cd05162	5901940,NP_008823
1789	17375667	Disease	p.Ser270Pro	VAR_022579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022579	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	117	cd05840	5901940,NP_008823
1789	17375667	Disease	p.Ser270Pro	VAR_022579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022579	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	51	cd05836	5901940,NP_008823
1789	17375667	Disease	p.Ser270Pro	VAR_022579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022579	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	55	cd05835	5901940,NP_008823
1789	17375667	Disease	p.Ala585Val	VAR_011506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011506	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	14	COG0270	5901940,NP_008823
1789	17375667	Disease	p.Ala585Val	VAR_011506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011506	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	11	cd00315	5901940,NP_008823
1789	17375667	Disease	p.Ala585Val	VAR_011506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011506	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	11	pfam00145	5901940,NP_008823
1789	17375667	Disease	p.Ala603Thr	VAR_011499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011499	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	37	COG0270	5901940,NP_008823
1789	17375667	Disease	p.Ala603Thr	VAR_011499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011499	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	38	cd00315	5901940,NP_008823
1789	17375667	Disease	p.Ala603Thr	VAR_011499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011499	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	38	pfam00145	5901940,NP_008823
1789	17375667	Disease	p.Val606Ala	VAR_011507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011507	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	40	COG0270	5901940,NP_008823
1789	17375667	Disease	p.Val606Ala	VAR_011507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011507	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	41	cd00315	5901940,NP_008823
1789	17375667	Disease	p.Val606Ala	VAR_011507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011507	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	41	pfam00145	5901940,NP_008823
1789	17375667	Disease	p.Gly663Ser	VAR_011500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011500	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	189	COG0270	5901940,NP_008823
1789	17375667	Disease	p.Gly663Ser	VAR_011500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011500	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	166	cd00315	5901940,NP_008823
1789	17375667	Disease	p.Gly663Ser	VAR_011500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011500	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	114	pfam00145	5901940,NP_008823
1789	17375667	Disease	p.Leu664Pro	VAR_022580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022580	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	190	COG0270	5901940,NP_008823
1789	17375667	Disease	p.Leu664Pro	VAR_022580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022580	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	167	cd00315	5901940,NP_008823
1789	17375667	Disease	p.Leu664Pro	VAR_022580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022580	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	115	pfam00145	5901940,NP_008823
1789	17375667	Disease	p.Val699Gly	VAR_011508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011508	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	226	COG0270	5901940,NP_008823
1789	17375667	Disease	p.Val699Gly	VAR_011508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011508	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	200	cd00315	5901940,NP_008823
1789	17375667	Disease	p.Val699Gly	VAR_011508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011508	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	150	pfam00145	5901940,NP_008823
1789	17375667	Disease	p.Val726Gly	VAR_011501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011501	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	310	COG0270	5901940,NP_008823
1789	17375667	Disease	p.Val726Gly	VAR_011501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011501	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	241	cd00315	5901940,NP_008823
1789	17375667	Disease	p.Val726Gly	VAR_011501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011501	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	198	pfam00145	5901940,NP_008823
1789	17375667	Disease	p.Ala766Pro	VAR_011509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011509	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	479	COG0270	5901940,NP_008823
1789	17375667	Disease	p.Ala766Pro	VAR_011509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011509	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	361	cd00315	5901940,NP_008823
1789	17375667	Disease	p.Ala766Pro	VAR_011509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011509	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	300	pfam00145	5901940,NP_008823
1789	17375667	Disease	p.His814Arg	VAR_011510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011510	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	638	COG0270	5901940,NP_008823
1789	17375667	Disease	p.His814Arg	VAR_011510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011510	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	581	cd00315	5901940,NP_008823
1789	17375667	Disease	p.His814Arg	VAR_011510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011510	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	501	pfam00145	5901940,NP_008823
1789	17375667	Disease	p.Asp817Gly	VAR_011503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011503	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	641	COG0270	5901940,NP_008823
1789	17375667	Disease	p.Asp817Gly	VAR_011503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011503	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	584	cd00315	5901940,NP_008823
1789	17375667	Disease	p.Asp817Gly	VAR_011503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011503	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	509	pfam00145	5901940,NP_008823
1789	17375667	Disease	p.Val818Met	VAR_011504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011504	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	642	COG0270	5901940,NP_008823
1789	17375667	Disease	p.Val818Met	VAR_011504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011504	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	585	cd00315	5901940,NP_008823
1789	17375667	Disease	p.Val818Met	VAR_011504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011504	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	510	pfam00145	5901940,NP_008823
1789	17375667	Disease	p.Arg840Gln	VAR_022581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022581	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	689	COG0270	5901940,NP_008823
1789	17375667	Disease	p.Arg840Gln	VAR_022581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022581	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	622	cd00315	5901940,NP_008823
1789	17375667	Disease	p.Arg840Gln	VAR_022581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022581	- Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]	SWISS	538	pfam00145	5901940,NP_008823
81704	158937439	Disease	p.Lys473Arg	VAR_063753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063753	- Hyperimmunoglobulin E recurrent infection syndrome autosomal recessive (AR-HIES) [MIM:243700]	SWISS	No Domain	N/A	238231392,NP_982272
285489	115311705	Disease	p.Gly180Ala	VAR_027544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027544	- Familial limb-girdle myasthenia autosomal recessive (LGM) [MIM:254300]	SWISS	108	pfam02174	111185957,NP_775931
285489	115311705	Disease	p.Gly180Ala	VAR_027544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027544	- Familial limb-girdle myasthenia autosomal recessive (LGM) [MIM:254300]	SWISS	77	cd01202	111185957,NP_775931
22845	20140913	Disease	p.Cys99Ser	VAR_032851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032851	- Congenital disorder of glycosylation type 1M (CDG1M) [MIM:610768]	SWISS	No Domain	N/A	7662482,NP_055723
22845	20140913	Disease	p.Tyr441Ser	VAR_032852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032852	- Congenital disorder of glycosylation type 1M (CDG1M) [MIM:610768]	SWISS	143	COG0170	7662482,NP_055723
1798	18202943	Disease	p.Tyr170Cys	VAR_017243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017243	rs28934876 Congenital disorder of glycosylation type 1J (CDG1J) [MIM:608093]	SWISS	188	cd06852	42794009,NP_001373
1798	18202943	Disease	p.Tyr170Cys	VAR_017243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017243	rs28934876 Congenital disorder of glycosylation type 1J (CDG1J) [MIM:608093]	SWISS	182	cd06499	42794009,NP_001373
1798	18202943	Disease	p.Tyr170Cys	VAR_017243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017243	rs28934876 Congenital disorder of glycosylation type 1J (CDG1J) [MIM:608093]	SWISS	124	cd06912	42794009,NP_001373
1798	18202943	Disease	p.Tyr170Cys	VAR_017243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017243	rs28934876 Congenital disorder of glycosylation type 1J (CDG1J) [MIM:608093]	SWISS	171	cd06853	42794009,NP_001373
1798	18202943	Disease	p.Tyr170Cys	VAR_017243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017243	rs28934876 Congenital disorder of glycosylation type 1J (CDG1J) [MIM:608093]	SWISS	122	cd06856	42794009,NP_001373
1798	18202943	Disease	p.Tyr170Cys	VAR_017243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017243	rs28934876 Congenital disorder of glycosylation type 1J (CDG1J) [MIM:608093]	SWISS	134	cd06851	42794009,NP_001373
1798	18202943	Disease	p.Tyr170Cys	VAR_017243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017243	rs28934876 Congenital disorder of glycosylation type 1J (CDG1J) [MIM:608093]	SWISS	246	pfam00953	42794009,NP_001373
1798	18202943	Disease	p.Tyr170Cys	VAR_017243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017243	rs28934876 Congenital disorder of glycosylation type 1J (CDG1J) [MIM:608093]	SWISS	271	COG0472	42794009,NP_001373
1798	18202943	Disease	p.Tyr170Cys	VAR_017243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017243	rs28934876 Congenital disorder of glycosylation type 1J (CDG1J) [MIM:608093]	SWISS	238	cd06855	42794009,NP_001373
8813	20137697	Disease	p.Arg92Gly	VAR_012341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012341	- Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]	SWISS	73	cd04196	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	VAR_012341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012341	- Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]	SWISS	103	pfam00535	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	VAR_012341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012341	- Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]	SWISS	100	cd06433	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	VAR_012341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012341	- Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]	SWISS	63	cd02511	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	VAR_012341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012341	- Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]	SWISS	78	cd02525	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	VAR_012341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012341	- Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]	SWISS	232	COG0463	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	VAR_012341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012341	- Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]	SWISS	116	cd04188	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	VAR_012341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012341	- Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]	SWISS	79_G	cd04187	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	VAR_012341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012341	- Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]	SWISS	65	cd04192	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	VAR_012341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012341	- Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]	SWISS	153	cd04179	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	VAR_012341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012341	- Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]	SWISS	121	cd06423	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	VAR_012341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012341	- Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]	SWISS	141	cd00761	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	VAR_012341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012341	- Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]	SWISS	88_G	cd04186	4503363,NP_003850
8813	20137697	Disease	p.Arg92Gly	VAR_012341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012341	- Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]	SWISS	76	cd06442	4503363,NP_003850
8813	20137697	Disease	p.Ser248Pro	VAR_019841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019841	- Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]	SWISS	369	cd02511	4503363,NP_003850
8813	20137697	Disease	p.Ser248Pro	VAR_019841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019841	- Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]	SWISS	700	COG0463	4503363,NP_003850
8813	20137697	Disease	p.Ser248Pro	VAR_019841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019841	- Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]	SWISS	267	cd06442	4503363,NP_003850
54344	125987822	Disease	p.Leu85Ser	VAR_062518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062518	- Congenital disorder of glycosylation type 1O (CDG1O) [MIM:612937]	SWISS	88	pfam08285	24430135,NP_714963
1807	3122049	Disease	p.Thr68Arg	VAR_002267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002267	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	74	cd01315	4503375,NP_001376
1807	3122049	Disease	p.Thr68Arg	VAR_002267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002267	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	68	cd01297	4503375,NP_001376
1807	3122049	Disease	p.Thr68Arg	VAR_002267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002267	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	7	cd01292	4503375,NP_001376
1807	3122049	Disease	p.Thr68Arg	VAR_002267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002267	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	12	cd01302	4503375,NP_001376
1807	3122049	Disease	p.Thr68Arg	VAR_002267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002267	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	13	cd01316	4503375,NP_001376
1807	3122049	Disease	p.Thr68Arg	VAR_002267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002267	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	13	cd01318	4503375,NP_001376
1807	3122049	Disease	p.Thr68Arg	VAR_002267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002267	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	72	cd01314	4503375,NP_001376
1807	3122049	Disease	p.Thr68Arg	VAR_002267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002267	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	88	cd01298	4503375,NP_001376
1807	3122049	Disease	p.Thr68Arg	VAR_002267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002267	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	81	cd00854	4503375,NP_001376
1807	3122049	Disease	p.Thr68Arg	VAR_002267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002267	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	14	pfam01979	4503375,NP_001376
1807	3122049	Disease	p.Thr68Arg	VAR_002267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002267	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	44	cd01317	4503375,NP_001376
1807	3122049	Disease	p.Thr68Arg	VAR_002267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002267	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	78	COG0044	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	VAR_002268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002268	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	367	cd01315	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	VAR_002268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002268	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	459	cd01297	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	VAR_002268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002268	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	610	cd01292	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	VAR_002268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002268	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	324	cd01302	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	VAR_002268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002268	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	239_G	cd01316	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	VAR_002268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002268	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	287_G	cd01318	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	VAR_002268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002268	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	406	cd01314	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	VAR_002268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002268	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	391_G	cd01298	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	VAR_002268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002268	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	363	cd00854	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	VAR_002268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002268	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	366	pfam01979	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	VAR_002268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002268	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	421	cd01317	4503375,NP_001376
1807	3122049	Disease	p.Gln334Arg	VAR_002268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002268	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	393	COG0044	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	VAR_002269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002269	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	463	cd01315	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	VAR_002269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002269	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	484	cd01297	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	VAR_002269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002269	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	646	cd01292	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	VAR_002269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002269	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	353	cd01302	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	VAR_002269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002269	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	263	cd01316	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	VAR_002269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002269	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	317	cd01318	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	VAR_002269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002269	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	439	cd01314	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	VAR_002269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002269	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	399	cd01298	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	VAR_002269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002269	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	430	cd00854	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	VAR_002269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002269	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	392	pfam01979	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	VAR_002269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002269	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	446	cd01317	4503375,NP_001376
1807	3122049	Disease	p.Trp360Arg	VAR_002269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002269	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	421	COG0044	4503375,NP_001376
1807	3122049	Disease	p.Gly435Arg	VAR_002270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002270	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	543	cd01315	4503375,NP_001376
1807	3122049	Disease	p.Gly435Arg	VAR_002270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002270	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	598	cd01297	4503375,NP_001376
1807	3122049	Disease	p.Gly435Arg	VAR_002270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002270	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	436	cd01302	4503375,NP_001376
1807	3122049	Disease	p.Gly435Arg	VAR_002270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002270	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	332	cd01316	4503375,NP_001376
1807	3122049	Disease	p.Gly435Arg	VAR_002270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002270	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	406	cd01318	4503375,NP_001376
1807	3122049	Disease	p.Gly435Arg	VAR_002270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002270	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	533	cd01314	4503375,NP_001376
1807	3122049	Disease	p.Gly435Arg	VAR_002270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002270	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	491_G	cd01298	4503375,NP_001376
1807	3122049	Disease	p.Gly435Arg	VAR_002270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002270	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	568	cd01317	4503375,NP_001376
1807	3122049	Disease	p.Gly435Arg	VAR_002270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002270	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	500	COG0044	4503375,NP_001376
1807	3122049	Disease	p.Arg490Thr	VAR_002271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002271	- Dihydropyrimidinase deficiency (DHPD) [MIM:222748]	SWISS	No Domain	N/A	4503375,NP_001376
1813	118206	Disease	p.Val154Ile	VAR_017143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017143	- Dystonia type 11 (DYT11) [MIM:159900]	SWISS	115	pfam00001	4503385,NP_000786
1813	118206	Disease	p.Val154Ile	VAR_017143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017143	- Dystonia type 11 (DYT11) [MIM:159900]	SWISS	112	pfam10320	4503385,NP_000786
1829	148876773	Disease	p.Arg46Gln	VAR_029365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029365	- Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193]	SWISS	No Domain	N/A	116534898,NP_001934
1829	148876773	Disease	p.Arg49His	VAR_029366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029366	- Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193]	SWISS	No Domain	N/A	116534898,NP_001934
1829	148876773	Disease	p.Cys507Tyr	VAR_029367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029367	- Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193]	SWISS	195	cd00031	116534898,NP_001934
1829	148876773	Disease	p.Gly812Cys	VAR_029368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029368	- Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193]	SWISS	No Domain	N/A	116534898,NP_001934
1832	115502381	Disease	p.Asn287Lys	VAR_015569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015569	- Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]	SWISS	17	cd00176	58530840,NP_004406
1832	115502381	Disease	p.Ser299Arg	VAR_015402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015402	- Familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:607450]	SWISS	29	cd00176	58530840,NP_004406
1832	115502381	Disease	p.Arg1255Lys	VAR_023814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023814	- Familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:607450]	SWISS	No Domain	N/A	58530840,NP_004406
1832	115502381	Disease	p.Arg1775Ile	VAR_023816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023816	rs34738426 Familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:607450]	SWISS	No Domain	N/A	58530840,NP_004406
1832	115502381	Disease	p.Arg2366Cys	VAR_015570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015570	rs28931610 Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]	SWISS	2	pfam00681	58530840,NP_004406
1832	115502381	Disease	p.Arg2366Cys	VAR_015570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015570	rs28931610 Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]	SWISS	2	smart00250	58530840,NP_004406
1834	215273974	Disease	p.Tyr6Asp	VAR_036861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036861	- Dentin dysplasia type 2 (DTDP2) [MIM:125420]	SWISS	No Domain	N/A	89001107,NP_055023
1834	215273974	Disease	p.Pro17Thr	VAR_012280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012280	rs28929492 Deafness autosomal dominant type 39 with dentinogenesis imperfecta 1 (DFNA39/DGI1) [MIM:605594]	SWISS	No Domain	N/A	89001107,NP_055023
1834	215273974	Disease	p.Val18Phe	VAR_012281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012281	- Deafness autosomal dominant type 39 with dentinogenesis imperfecta 1 (DFNA39/DGI1) [MIM:605594]	SWISS	No Domain	N/A	89001107,NP_055023
1834	215273974	Disease	p.Val18Phe	VAR_012281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012281	- Dentinogenesis imperfecta Shields type 3 (DGI3) [MIM:125500]	SWISS	No Domain	N/A	89001107,NP_055023
1837	229462840	Disease	p.Pro121Leu	VAR_026744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026744	- Left ventricular non-compaction type 1 (LVNC1) [MIM:604169]	SWISS	321	pfam09068	42718005,NP_001381
50506	296434485	Disease	p.Gln36His	VAR_025323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025323	- Congenital hypothyroidism due to dyshormonogenesis type 6 (CHDH6) [MIM:607200]	SWISS	2	pfam03098	132566532,NP_054799
50506	296434485	Disease	p.Arg376Trp	VAR_025325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025325	- Congenital hypothyroidism due to dyshormonogenesis type 6 (CHDH6) [MIM:607200]	SWISS	1126	pfam03098	132566532,NP_054799
54808	68565365	Disease	p.Glu87Lys	VAR_022740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022740	- Smith-McCort dysplasia (SMC) [MIM:607326]	SWISS	78	pfam09742	157779137,NP_060123
54808	68565365	Disease	p.Asn469Tyr	VAR_054499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054499	- Dyggve-Melchior-Clausen syndrome (DMC) [MIM:223800]	SWISS	616	pfam09742	157779137,NP_060123
79659	311033479	Disease	p.Phe209Ile	VAR_063242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063242	- Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510]	SWISS	111	pfam08385	283806679,NP_001368
79659	311033479	Disease	p.Arg587Cys	VAR_063243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063243	- Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510]	SWISS	607	pfam08385	283806679,NP_001368
79659	311033479	Disease	p.Ile1240Thr	VAR_063244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063244	- Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091]	SWISS	216	pfam08393	283806679,NP_001368
79659	311033479	Disease	p.Gln1537Arg	VAR_063245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063245	- Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091]	SWISS	No Domain	N/A	283806679,NP_001368
79659	311033479	Disease	p.Thr1987Ala	VAR_063246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063246	- Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510]	SWISS	14	pfam07728	283806679,NP_001368
79659	311033479	Disease	p.Met1991Leu	VAR_063247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063247	- Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091]	SWISS	18	pfam07728	283806679,NP_001368
79659	311033479	Disease	p.Arg2205His	VAR_063248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063248	- Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510]	SWISS	No Domain	N/A	283806679,NP_001368
79659	311033479	Disease	p.Gly2461Val	VAR_063249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063249	- Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510]	SWISS	No Domain	N/A	283806679,NP_001368
79659	311033479	Disease	p.Asp3015Gly	VAR_063250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063250	- Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091]	SWISS	No Domain	N/A	283806679,NP_001368
79659	311033479	Disease	p.Leu3762Val	VAR_063251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063251	- Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091]	SWISS	205	pfam03028	283806679,NP_001368
8291	20137708	Disease	p.Trp52Arg	VAR_057834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057834	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	78	cd04030	4503431,NP_003485
8291	20137708	Disease	p.Trp52Arg	VAR_057834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057834	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	110_G	cd04015	4503431,NP_003485
8291	20137708	Disease	p.Trp52Arg	VAR_057834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057834	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	134	pfam00168	4503431,NP_003485
8291	20137708	Disease	p.Trp52Arg	VAR_057834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057834	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	87	cd00276	4503431,NP_003485
8291	20137708	Disease	p.Trp52Arg	VAR_057834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057834	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	208	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Trp52Arg	VAR_057834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057834	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	77	cd04035	4503431,NP_003485
8291	20137708	Disease	p.Trp52Arg	VAR_057834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057834	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	79	cd04009	4503431,NP_003485
8291	20137708	Disease	p.Trp52Arg	VAR_057834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057834	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	156	cd08521	4503431,NP_003485
8291	20137708	Disease	p.Trp52Arg	VAR_057834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057834	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	73	cd08405	4503431,NP_003485
8291	20137708	Disease	p.Trp52Arg	VAR_057834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057834	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	53	cd04022	4503431,NP_003485
8291	20137708	Disease	p.Trp52Arg	VAR_057834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057834	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	55	cd08382	4503431,NP_003485
8291	20137708	Disease	p.Trp52Arg	VAR_057834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057834	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	56_G	cd04045	4503431,NP_003485
8291	20137708	Disease	p.Trp52Arg	VAR_057834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057834	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	241	smart00239	4503431,NP_003485
8291	20137708	Disease	p.Trp52Arg	VAR_057834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057834	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	52	cd08373	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	92	cd04030	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	122	cd04015	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	154	pfam00168	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	114	cd00276	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	287	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	96	cd04035	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	96	cd04009	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	170	cd08521	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	87	cd08405	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	70	cd04022	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	71	cd08382	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	69	cd04045	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	288	smart00239	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	67	cd08373	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	92	cd04030	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	122	cd04015	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	154	pfam00168	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	114	cd00276	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	287	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	96	cd04035	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	96	cd04009	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	170	cd08521	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	87	cd08405	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	70	cd04022	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	71	cd08382	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	69	cd04045	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	288	smart00239	4503431,NP_003485
8291	20137708	Disease	p.Val67Asp	VAR_057835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057835	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	67	cd08373	4503431,NP_003485
8291	20137708	Disease	p.Gly155Arg	VAR_057837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057837	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Ala170Glu	VAR_024853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024853	rs34999029 Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Ala170Glu	VAR_024853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024853	rs34999029 Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Gly234Glu	VAR_057838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057838	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	23	cd04011	4503431,NP_003485
8291	20137708	Disease	p.Gly234Glu	VAR_057838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057838	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	13	pfam00168	4503431,NP_003485
8291	20137708	Disease	p.Gly234Glu	VAR_057838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057838	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	13	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Gly234Glu	VAR_057838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057838	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	14	smart00239	4503431,NP_003485
8291	20137708	Disease	p.Ile284Thr	VAR_057839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057839	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	79	cd04011	4503431,NP_003485
8291	20137708	Disease	p.Ile284Thr	VAR_057839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057839	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	154	pfam00168	4503431,NP_003485
8291	20137708	Disease	p.Ile284Thr	VAR_057839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057839	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	287	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Ile284Thr	VAR_057839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057839	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	288	smart00239	4503431,NP_003485
8291	20137708	Disease	p.Gly299Glu	VAR_024857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024857	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	105	cd04011	4503431,NP_003485
8291	20137708	Disease	p.Gly299Glu	VAR_024857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024857	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	185	pfam00168	4503431,NP_003485
8291	20137708	Disease	p.Gly299Glu	VAR_024857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024857	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	388	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Gly299Glu	VAR_024857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024857	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	330	smart00239	4503431,NP_003485
8291	20137708	Disease	p.Gly299Arg	VAR_057840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057840	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	105	cd04011	4503431,NP_003485
8291	20137708	Disease	p.Gly299Arg	VAR_057840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057840	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	185	pfam00168	4503431,NP_003485
8291	20137708	Disease	p.Gly299Arg	VAR_057840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057840	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	388	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Gly299Arg	VAR_057840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057840	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	330	smart00239	4503431,NP_003485
8291	20137708	Disease	p.Gly299Trp	VAR_057841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057841	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	105	cd04011	4503431,NP_003485
8291	20137708	Disease	p.Gly299Trp	VAR_057841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057841	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	185	pfam00168	4503431,NP_003485
8291	20137708	Disease	p.Gly299Trp	VAR_057841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057841	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	388	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Gly299Trp	VAR_057841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057841	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	330	smart00239	4503431,NP_003485
8291	20137708	Disease	p.Val374Leu	VAR_057844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057844	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Glu389Gln	VAR_057846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057846	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	10	cd04018	4503431,NP_003485
8291	20137708	Disease	p.Glu389Gln	VAR_057846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057846	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	10	smart00239	4503431,NP_003485
8291	20137708	Disease	p.Glu389Gln	VAR_057846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057846	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	9	pfam00168	4503431,NP_003485
8291	20137708	Disease	p.Glu389Gln	VAR_057846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057846	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	9	cd04040	4503431,NP_003485
8291	20137708	Disease	p.Glu389Gln	VAR_057846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057846	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	9	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Glu389Gln	VAR_057846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057846	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	11	cd04041	4503431,NP_003485
8291	20137708	Disease	p.Gly426Arg	VAR_057848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057848	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	49	cd04018	4503431,NP_003485
8291	20137708	Disease	p.Gly426Arg	VAR_057848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057848	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	90	smart00239	4503431,NP_003485
8291	20137708	Disease	p.Gly426Arg	VAR_057848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057848	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	74	pfam00168	4503431,NP_003485
8291	20137708	Disease	p.Gly426Arg	VAR_057848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057848	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	31	cd04040	4503431,NP_003485
8291	20137708	Disease	p.Gly426Arg	VAR_057848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057848	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	60	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Gly426Arg	VAR_057848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057848	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	38	cd04041	4503431,NP_003485
8291	20137708	Disease	p.Gly426Val	VAR_057849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057849	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	49	cd04018	4503431,NP_003485
8291	20137708	Disease	p.Gly426Val	VAR_057849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057849	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	90	smart00239	4503431,NP_003485
8291	20137708	Disease	p.Gly426Val	VAR_057849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057849	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	74	pfam00168	4503431,NP_003485
8291	20137708	Disease	p.Gly426Val	VAR_057849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057849	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	31	cd04040	4503431,NP_003485
8291	20137708	Disease	p.Gly426Val	VAR_057849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057849	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	60	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Gly426Val	VAR_057849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057849	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	38	cd04041	4503431,NP_003485
8291	20137708	Disease	p.Cys456Trp	VAR_024858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024858	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	79	cd04018	4503431,NP_003485
8291	20137708	Disease	p.Cys456Trp	VAR_024858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024858	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	278	smart00239	4503431,NP_003485
8291	20137708	Disease	p.Cys456Trp	VAR_024858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024858	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	144	pfam00168	4503431,NP_003485
8291	20137708	Disease	p.Cys456Trp	VAR_024858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024858	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	64	cd04040	4503431,NP_003485
8291	20137708	Disease	p.Cys456Trp	VAR_024858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024858	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	282	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Cys456Trp	VAR_024858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024858	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	92	cd04041	4503431,NP_003485
8291	20137708	Disease	p.Gly519Arg	VAR_057850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057850	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	143	cd04018	4503431,NP_003485
8291	20137708	Disease	p.Arg555Trp	VAR_024859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024859	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Arg555Trp	VAR_024859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024859	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Gly618Arg	VAR_057851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057851	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Gly618Arg	VAR_057851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057851	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Gly621Arg	VAR_057852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057852	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Asp625Tyr	VAR_057853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057853	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Pro731Arg	VAR_057854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057854	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	40	pfam08165	4503431,NP_003485
8291	20137708	Disease	p.Pro791Arg	VAR_012308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012308	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	6	pfam08150	4503431,NP_003485
8291	20137708	Disease	p.Pro791Arg	VAR_012308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012308	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	6	pfam08150	4503431,NP_003485
8291	20137708	Disease	p.Trp930Cys	VAR_057856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057856	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	83	smart00693	4503431,NP_003485
8291	20137708	Disease	p.Arg959Trp	VAR_024860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024860	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	14	smart00693	4503431,NP_003485
8291	20137708	Disease	p.Arg959Trp	VAR_024860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024860	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	14	smart00693	4503431,NP_003485
8291	20137708	Disease	p.Trp999Cys	VAR_057857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057857	rs28937581 Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	83	smart00693	4503431,NP_003485
8291	20137708	Disease	p.Arg1022Gln	VAR_024861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024861	rs34211915 Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	12	smart00694	4503431,NP_003485
8291	20137708	Disease	p.Pro1029Leu	VAR_057858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057858	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	19	smart00694	4503431,NP_003485
8291	20137708	Disease	p.Arg1038Gln	VAR_024862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024862	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	31	smart00694	4503431,NP_003485
8291	20137708	Disease	p.Arg1041Cys	VAR_057859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057859	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	34	smart00694	4503431,NP_003485
8291	20137708	Disease	p.Arg1046His	VAR_024863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024863	rs28939700 Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	39	smart00694	4503431,NP_003485
8291	20137708	Disease	p.Ile1208Met	VAR_024865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024865	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	81	cd04026	4503431,NP_003485
8291	20137708	Disease	p.Ile1208Met	VAR_024865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024865	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	56	cd04042	4503431,NP_003485
8291	20137708	Disease	p.Ile1208Met	VAR_024865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024865	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	245	smart00239	4503431,NP_003485
8291	20137708	Disease	p.Ile1208Met	VAR_024865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024865	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	56	cd04025	4503431,NP_003485
8291	20137708	Disease	p.Ile1208Met	VAR_024865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024865	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	95	cd04031	4503431,NP_003485
8291	20137708	Disease	p.Ile1208Met	VAR_024865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024865	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	132	pfam00168	4503431,NP_003485
8291	20137708	Disease	p.Ile1208Met	VAR_024865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024865	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	61	cd08391	4503431,NP_003485
8291	20137708	Disease	p.Ile1208Met	VAR_024865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024865	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	58	cd04024	4503431,NP_003485
8291	20137708	Disease	p.Ile1208Met	VAR_024865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024865	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	59	cd08688	4503431,NP_003485
8291	20137708	Disease	p.Ile1208Met	VAR_024865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024865	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	60	cd08675	4503431,NP_003485
8291	20137708	Disease	p.Ile1208Met	VAR_024865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024865	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	56_G	cd04038	4503431,NP_003485
8291	20137708	Disease	p.Ile1208Met	VAR_024865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024865	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	211	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Ile1208Met	VAR_024865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024865	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	69	cd08387	4503431,NP_003485
8291	20137708	Disease	p.Ile1208Met	VAR_024865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024865	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	60	cd04046	4503431,NP_003485
8291	20137708	Disease	p.Ile1208Met	VAR_024865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024865	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	57	cd08377	4503431,NP_003485
8291	20137708	Disease	p.Ile1208Met	VAR_024865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024865	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	91	cd04017	4503431,NP_003485
8291	20137708	Disease	p.Leu1228Pro	VAR_057860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057860	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	97	cd04026	4503431,NP_003485
8291	20137708	Disease	p.Leu1228Pro	VAR_057860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057860	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	67	cd04042	4503431,NP_003485
8291	20137708	Disease	p.Leu1228Pro	VAR_057860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057860	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	292	smart00239	4503431,NP_003485
8291	20137708	Disease	p.Leu1228Pro	VAR_057860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057860	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	72	cd04025	4503431,NP_003485
8291	20137708	Disease	p.Leu1228Pro	VAR_057860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057860	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	109	cd04031	4503431,NP_003485
8291	20137708	Disease	p.Leu1228Pro	VAR_057860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057860	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	156	pfam00168	4503431,NP_003485
8291	20137708	Disease	p.Leu1228Pro	VAR_057860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057860	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	76	cd08391	4503431,NP_003485
8291	20137708	Disease	p.Leu1228Pro	VAR_057860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057860	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	73	cd04024	4503431,NP_003485
8291	20137708	Disease	p.Leu1228Pro	VAR_057860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057860	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	74	cd08688	4503431,NP_003485
8291	20137708	Disease	p.Leu1228Pro	VAR_057860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057860	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	105	cd08675	4503431,NP_003485
8291	20137708	Disease	p.Leu1228Pro	VAR_057860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057860	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	70	cd04038	4503431,NP_003485
8291	20137708	Disease	p.Leu1228Pro	VAR_057860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057860	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	289	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Leu1228Pro	VAR_057860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057860	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	89	cd08387	4503431,NP_003485
8291	20137708	Disease	p.Leu1228Pro	VAR_057860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057860	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	71	cd04046	4503431,NP_003485
8291	20137708	Disease	p.Leu1228Pro	VAR_057860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057860	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	65	cd08377	4503431,NP_003485
8291	20137708	Disease	p.Leu1228Pro	VAR_057860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057860	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	111	cd04017	4503431,NP_003485
8291	20137708	Disease	p.Ile1298Val	VAR_012309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012309	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	148	cd04038	4503431,NP_003485
8291	20137708	Disease	p.Ile1298Val	VAR_012309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012309	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	148	cd04038	4503431,NP_003485
8291	20137708	Disease	p.Glu1335Lys	VAR_024868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024868	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Glu1335Lys	VAR_024868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024868	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Leu1341Pro	VAR_057862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057862	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Cys1361Arg	VAR_057863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057863	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Tyr1505Cys	VAR_057864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057864	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Lys1526Thr	VAR_057865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057865	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Gly1543Asp	VAR_057866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057866	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Thr1662Arg	VAR_057868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057868	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	332	smart00239	4503431,NP_003485
8291	20137708	Disease	p.Thr1662Arg	VAR_057868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057868	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	108	cd08376	4503431,NP_003485
8291	20137708	Disease	p.Thr1662Arg	VAR_057868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057868	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	130	cd04037	4503431,NP_003485
8291	20137708	Disease	p.Thr1662Arg	VAR_057868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057868	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	187	pfam00168	4503431,NP_003485
8291	20137708	Disease	p.Thr1662Arg	VAR_057868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057868	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	390	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Thr1662Arg	VAR_057868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057868	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	104	cd08402	4503431,NP_003485
8291	20137708	Disease	p.Gly1679Glu	VAR_057870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057870	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	140	cd08376	4503431,NP_003485
8291	20137708	Disease	p.Gly1679Glu	VAR_057870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057870	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	148	cd04037	4503431,NP_003485
8291	20137708	Disease	p.Gly1679Glu	VAR_057870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057870	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	451	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Gly1679Glu	VAR_057870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057870	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	121	cd08402	4503431,NP_003485
8291	20137708	Disease	p.Arg1693Gln	VAR_024870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024870	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	185	cd04037	4503431,NP_003485
8291	20137708	Disease	p.Arg1693Gln	VAR_024870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024870	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	139	cd08402	4503431,NP_003485
8291	20137708	Disease	p.Arg1693Trp	VAR_057871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057871	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	185	cd04037	4503431,NP_003485
8291	20137708	Disease	p.Arg1693Trp	VAR_057871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057871	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	139	cd08402	4503431,NP_003485
8291	20137708	Disease	p.Glu1734Gly	VAR_057872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057872	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Arg1768Trp	VAR_057873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057873	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Asp1837Asn	VAR_057874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057874	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	51	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Asp1837Asn	VAR_057874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057874	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	79	smart00239	4503431,NP_003485
8291	20137708	Disease	p.Asp1837Asn	VAR_057874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057874	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	32	cd08374	4503431,NP_003485
8291	20137708	Disease	p.Gly1842Asp	VAR_057875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057875	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	56	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Gly1842Asp	VAR_057875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057875	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	84	smart00239	4503431,NP_003485
8291	20137708	Disease	p.Gly1842Asp	VAR_057875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057875	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	37	cd08374	4503431,NP_003485
8291	20137708	Disease	p.His1857Arg	VAR_012310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012310	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	130	cd00030	4503431,NP_003485
8291	20137708	Disease	p.His1857Arg	VAR_012310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012310	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	212	smart00239	4503431,NP_003485
8291	20137708	Disease	p.His1857Arg	VAR_012310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012310	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	64	cd08374	4503431,NP_003485
8291	20137708	Disease	p.Leu1922Pro	VAR_057876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057876	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	387	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Leu1922Pro	VAR_057876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057876	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	329	smart00239	4503431,NP_003485
8291	20137708	Disease	p.Leu1922Pro	VAR_057876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057876	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	163	cd08374	4503431,NP_003485
8291	20137708	Disease	p.Cys1942Gly	VAR_057878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057878	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	456	cd00030	4503431,NP_003485
8291	20137708	Disease	p.Cys1942Gly	VAR_057878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057878	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	189	cd08374	4503431,NP_003485
8291	20137708	Disease	p.Pro1970Ser	VAR_057880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057880	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Arg2000Gln	VAR_024872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024872	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Arg2042Cys	VAR_012311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012311	- Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Arg2042Cys	VAR_012311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012311	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	No Domain	N/A	4503431,NP_003485
8291	20137708	Disease	p.Pro2068Leu	VAR_057881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057881	- Miyoshi muscular dystrophy type (MMD1) [MIM:254130]	SWISS	No Domain	N/A	4503431,NP_003485
10682	17374795	Disease	p.Glu80Lys	VAR_012105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012105	rs28936073 Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960]	SWISS	60	pfam05241	5729810,NP_006570
10682	17374795	Disease	p.Arg110Gln	VAR_012106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012106	- Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960]	SWISS	214	pfam05241	5729810,NP_006570
10682	17374795	Disease	p.Arg147Gly	VAR_012107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012107	- Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960]	SWISS	291	pfam05241	5729810,NP_006570
10682	17374795	Disease	p.Arg147His	VAR_012108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012108	rs28935174 Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960]	SWISS	291	pfam05241	5729810,NP_006570
1893	48429255	Disease	p.Phe167Ile	VAR_018691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018691	- Lipoid proteinosis (LiP) [MIM:247100]	SWISS	187	pfam05782	221316614,NP_004416
1896	6166135	Disease	p.His54Tyr	VAR_010611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010611	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	No Domain	N/A	4503449,NP_001390
1896	6166135	Disease	p.Leu55Arg	VAR_010612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010612	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	No Domain	N/A	4503449,NP_001390
1896	6166135	Disease	p.Cys60Arg	VAR_013484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013484	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	No Domain	N/A	4503449,NP_001390
1896	6166135	Disease	p.Tyr61His	VAR_005179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005179	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	No Domain	N/A	4503449,NP_001390
1896	6166135	Disease	p.Glu63Lys	VAR_005180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005180	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	No Domain	N/A	4503449,NP_001390
1896	6166135	Disease	p.Arg65Gly	VAR_029534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029534	- Tooth agenesis selective X-linked type 1 (STHAGX1) [MIM:313500]	SWISS	No Domain	N/A	4503449,NP_001390
1896	6166135	Disease	p.Arg69Leu	VAR_005181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005181	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	No Domain	N/A	4503449,NP_001390
1896	6166135	Disease	p.Arg153Cys	VAR_054454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054454	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	No Domain	N/A	4503449,NP_001390
1896	6166135	Disease	p.Arg155Cys	VAR_005182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005182	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	No Domain	N/A	4503449,NP_001390
1896	6166135	Disease	p.Arg156Cys	VAR_005183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005183	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	No Domain	N/A	4503449,NP_001390
1896	6166135	Disease	p.Arg156His	VAR_005184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005184	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	No Domain	N/A	4503449,NP_001390
1896	6166135	Disease	p.Arg156Ser	VAR_054455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054455	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	No Domain	N/A	4503449,NP_001390
1896	6166135	Disease	p.Lys158Asn	VAR_054456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054456	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	No Domain	N/A	4503449,NP_001390
1896	6166135	Disease	p.Gly189Glu	VAR_054460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054460	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	10	pfam01391	4503449,NP_001390
1896	6166135	Disease	p.Gly198Ala	VAR_054462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054462	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	19	pfam01391	4503449,NP_001390
1896	6166135	Disease	p.Gly207Arg	VAR_054463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054463	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	28	pfam01391	4503449,NP_001390
1896	6166135	Disease	p.Pro209Leu	VAR_005185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005185	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	30	pfam01391	4503449,NP_001390
1896	6166135	Disease	p.Gly218Asp	VAR_054464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054464	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	37	pfam01391	4503449,NP_001390
1896	6166135	Disease	p.Gly224Ala	VAR_005186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005186	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	43	pfam01391	4503449,NP_001390
1896	6166135	Disease	p.His252Leu	VAR_005187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005187	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	4	cd00184	4503449,NP_001390
1896	6166135	Disease	p.His252Tyr	VAR_013485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013485	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	4	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Gly255Cys	VAR_011077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011077	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	7	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Gly255Asp	VAR_011078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011078	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	7	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Gly269Val	VAR_013486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013486	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	33	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Trp274Gly	VAR_011079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011079	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	3	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Trp274Gly	VAR_011079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011079	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	38	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Gly291Arg	VAR_010613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010613	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	25	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Gly291Arg	VAR_010613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010613	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	62	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Gly291Trp	VAR_010614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010614	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	25	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Gly291Trp	VAR_010614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010614	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	62	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Asp298His	VAR_010615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010615	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	32	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Asp298His	VAR_010615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010615	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	69	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Asp298Tyr	VAR_054466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054466	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	32	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Asp298Tyr	VAR_054466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054466	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	69	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Gly299Ser	VAR_005188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005188	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	33	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Gly299Ser	VAR_005188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005188	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	70	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Phe302Ser	VAR_013487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013487	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	36	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Phe302Ser	VAR_013487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013487	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	73	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Gln306His	VAR_054467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054467	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	40	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Gln306His	VAR_054467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054467	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	77	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Val307Gly	VAR_054468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054468	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	41	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Val307Gly	VAR_054468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054468	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	78	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Tyr320Cys	VAR_054469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054469	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	81	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Tyr320Cys	VAR_054469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054469	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	106	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Cys332Tyr	VAR_011080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011080	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	97	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Cys332Tyr	VAR_011080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011080	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	125	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Tyr343Cys	VAR_054470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054470	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	119	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Tyr343Cys	VAR_054470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054470	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	149	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Ala349Thr	VAR_005189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005189	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	125	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Ala349Thr	VAR_005189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005189	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	155	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Ala356Asp	VAR_005190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005190	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	132	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Ala356Asp	VAR_005190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005190	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	163	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Arg357Pro	VAR_005191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005191	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	133	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Arg357Pro	VAR_005191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005191	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	164	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Gln358Glu	VAR_054471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054471	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	134	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Gln358Glu	VAR_054471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054471	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	165	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Ile360Asn	VAR_054472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054472	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	136	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Ile360Asn	VAR_054472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054472	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	167	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Asn372Asp	VAR_054473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054473	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	152	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Asn372Asp	VAR_054473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054473	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	182	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Met373Ile	VAR_054474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054474	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	153	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Met373Ile	VAR_054474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054474	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	183	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Ser374Arg	VAR_054475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054475	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	154	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Ser374Arg	VAR_054475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054475	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	184	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Thr378Met	VAR_013488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013488	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	159	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Thr378Met	VAR_013488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013488	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	199	cd00184	4503449,NP_001390
1896	6166135	Disease	p.Thr378Pro	VAR_054476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054476	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	159	pfam00229	4503449,NP_001390
1896	6166135	Disease	p.Thr378Pro	VAR_054476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054476	- Ectodermal dysplasia type 1 (ED1) [MIM:305100]	SWISS	199	cd00184	4503449,NP_001390
10913	21263572	Disease	p.Cys87Arg	VAR_013448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013448	- Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]	SWISS	63	cd00185	11641231,NP_071731
10913	21263572	Disease	p.Arg89His	VAR_013449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013449	- Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]	SWISS	65	cd00185	11641231,NP_071731
10913	21263572	Disease	p.Arg420Gln	VAR_013450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013450	- Ectodermal dysplasia type 3 (ED3) [MIM:129490]	SWISS	82	cd08311	11641231,NP_071731
10913	21263572	Disease	p.Arg420Gln	VAR_013450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013450	- Ectodermal dysplasia type 3 (ED3) [MIM:129490]	SWISS	85	pfam00531	11641231,NP_071731
128178	212276512	Disease	p.Leu122Arg	VAR_054510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054510	- Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]	SWISS	No Domain	N/A	153267418,NP_665860
128178	212276512	Disease	p.Glu152Lys	VAR_013482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013482	- Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]	SWISS	33	pfam00531	153267418,NP_665860
1908	119618	Disease	p.Ala17Thr	VAR_009078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009078	rs11570255 Hirschsprung disease type 1 (HSCR1) [MIM:142623]	SWISS	No Domain	N/A	46370064,NP_996917|4557545,NP_000105
1908	119618	Disease	p.Tyr127Cys	VAR_015238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015238	- Waardenburg syndrome type 4 (WS4B) [MIM:613265]	SWISS	No Domain	N/A	46370064,NP_996917|4557545,NP_000105
1908	119618	Disease	p.Cys159Phe	VAR_002353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002353	- Waardenburg syndrome type 4 (WS4B) [MIM:613265]	SWISS	2	smart00272	46370064,NP_996917|4557545,NP_000105
1908	119618	Disease	p.Ala224Thr	VAR_009079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009079	rs11570351 Hirschsprung disease type 1 (HSCR1) [MIM:142623]	SWISS	No Domain	N/A	46370064,NP_996917|4557545,NP_000105
1910	119622	Disease	p.Gly57Ser	VAR_003469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003469	rs1801710 Hirschsprung disease type 2 (HSCR2) [MIM:600155]	SWISS	No Domain	N/A	4557547,NP_000106|169808392,NP_001116131
1910	119622	Disease	p.Ala183Gly	VAR_003470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003470	- Waardenburg syndrome type 4A (WS4A) [MIM:277580]	SWISS	76	pfam00001	4557547,NP_000106|169808392,NP_001116131
1910	119622	Disease	p.Trp276Cys	VAR_003471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003471	- Hirschsprung disease type 2 (HSCR2) [MIM:600155]	SWISS	183	pfam00001	4557547,NP_000106|169808392,NP_001116131
1910	119622	Disease	p.Phe292Leu	VAR_015294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015294	- Waardenburg syndrome type 4A (WS4A) [MIM:277580]	SWISS	200	pfam00001	4557547,NP_000106|169808392,NP_001116131
1910	119622	Disease	p.Ser305Asn	VAR_003472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003472	rs5352 Hirschsprung disease type 2 (HSCR2) [MIM:600155]	SWISS	213	pfam00001	4557547,NP_000106|169808392,NP_001116131
1910	119622	Disease	p.Arg319Trp	VAR_003473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003473	- Hirschsprung disease type 2 (HSCR2) [MIM:600155]	SWISS	362	pfam00001	4557547,NP_000106|169808392,NP_001116131
1910	119622	Disease	p.Met374Ile	VAR_003474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003474	- Hirschsprung disease type 2 (HSCR2) [MIM:600155]	SWISS	418	pfam00001	4557547,NP_000106|169808392,NP_001116131
1910	119622	Disease	p.Pro383Leu	VAR_003475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003475	- Hirschsprung disease type 2 (HSCR2) [MIM:600155]	SWISS	427	pfam00001	4557547,NP_000106|169808392,NP_001116131
2202	9973182	Disease	p.Arg345Trp	VAR_009513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009513	- Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600]	SWISS	26	smart00179	86788132,NP_001034438|9665262,NP_004096|86788015,NP_001034437
2202	9973182	Disease	p.Arg345Trp	VAR_009513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009513	- Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600]	SWISS	26	cd00054	86788132,NP_001034438|9665262,NP_004096|86788015,NP_001034437
2202	9973182	Disease	p.Arg345Trp	VAR_009513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009513	- Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600]	SWISS	18	pfam07645	86788132,NP_001034438|9665262,NP_004096|86788015,NP_001034437
30008	134047775	Disease	p.Glu57Lys	VAR_027019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027019	- Cutis laxa autosomal recessive type 1 (ARCL1) [MIM:219100]	SWISS	4	smart00179	NULL
114327	74762202	Disease	p.Pro77Thr	VAR_023619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023619	- Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]	SWISS	No Domain	N/A	156616292,NP_060570
114327	74762202	Disease	p.Asp210Asn	VAR_023622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023622	- Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]	SWISS	No Domain	N/A	156616292,NP_060570
114327	74762202	Disease	p.Arg221His	VAR_023623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023623	- Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]	SWISS	No Domain	N/A	156616292,NP_060570
114327	74762202	Disease	p.Phe229Leu	VAR_023624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023624	- Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]	SWISS	No Domain	N/A	156616292,NP_060570
114327	74762202	Disease	p.Asp253Tyr	VAR_023625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023625	- Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]	SWISS	15	smart00676	156616292,NP_060570
114327	74762202	Disease	p.Arg353Trp	VAR_043157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043157	- Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]	SWISS	191	smart00676	156616292,NP_060570
1947	1706668	Disease	p.Pro27Arg	VAR_023127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023127	- Craniofrontonasal syndrome (CFNS) [MIM:304110]	SWISS	No Domain	N/A	4758248,NP_004420
1947	1706668	Disease	p.Pro54Leu	VAR_023128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023128	- Craniofrontonasal syndrome (CFNS) [MIM:304110]	SWISS	26	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Ile62Thr	VAR_023129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023129	- Craniofrontonasal syndrome (CFNS) [MIM:304110]	SWISS	34	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Leu98Ser	VAR_023130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023130	- Craniofrontonasal syndrome (CFNS) [MIM:304110]	SWISS	82	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Thr111Ile	VAR_023131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023131	- Craniofrontonasal syndrome (CFNS) [MIM:304110]	SWISS	119	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Gln115Pro	VAR_023132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023132	- Craniofrontonasal syndrome (CFNS) [MIM:304110]	SWISS	123	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Pro119His	VAR_023133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023133	- Craniofrontonasal syndrome (CFNS) [MIM:304110]	SWISS	127	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Pro119Ser	VAR_023134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023134	- Craniofrontonasal syndrome (CFNS) [MIM:304110]	SWISS	127	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Pro119Thr	VAR_023135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023135	- Craniofrontonasal syndrome (CFNS) [MIM:304110]	SWISS	127	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Thr137Ala	VAR_023136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023136	- Craniofrontonasal syndrome (CFNS) [MIM:304110]	SWISS	145	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Ser138Phe	VAR_023137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023137	- Craniofrontonasal syndrome (CFNS) [MIM:304110]	SWISS	146	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Gly151Ser	VAR_023138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023138	rs28936069 Craniofrontonasal syndrome (CFNS) [MIM:304110]	SWISS	159	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Gly151Val	VAR_023139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023139	rs28936070 Craniofrontonasal syndrome (CFNS) [MIM:304110]	SWISS	159	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Cys153Ser	VAR_023140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023140	- Craniofrontonasal syndrome (CFNS) [MIM:304110]	SWISS	161	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Cys153Tyr	VAR_023141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023141	- Craniofrontonasal syndrome (CFNS) [MIM:304110]	SWISS	161	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Thr155Pro	VAR_023143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023143	- Craniofrontonasal syndrome (CFNS) [MIM:304110]	SWISS	163	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Met158Ile	VAR_023144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023144	rs28935170 Craniofrontonasal syndrome (CFNS) [MIM:304110]	SWISS	166	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Met158Val	VAR_023145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023145	rs28936071 Craniofrontonasal syndrome (CFNS) [MIM:304110]	SWISS	166	pfam00812	4758248,NP_004420
1947	1706668	Disease	p.Ser182Arg	VAR_023146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023146	- Craniofrontonasal syndrome (CFNS) [MIM:304110]	SWISS	No Domain	N/A	4758248,NP_004420
1950	251757262	Disease	p.Pro1070Leu	VAR_039474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039474	- Hypomagnesemia type 4 (HOMG4) [MIM:611718]	SWISS	No Domain	N/A	166362728,NP_001954
54583	32129514	Disease	p.Pro317Arg	VAR_027371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027371	- Erythrocytosis familial type 3 (ECYT3) [MIM:609820]	SWISS	220	smart00702	13489073,NP_071334
54583	32129514	Disease	p.Pro317Arg	VAR_027371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027371	- Erythrocytosis familial type 3 (ECYT3) [MIM:609820]	SWISS	61	pfam03171	13489073,NP_071334
54583	32129514	Disease	p.Pro317Arg	VAR_027371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027371	- Erythrocytosis familial type 3 (ECYT3) [MIM:609820]	SWISS	236	COG3751	13489073,NP_071334
54583	32129514	Disease	p.Arg371His	VAR_045902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045902	- Erythrocytosis familial type 3 (ECYT3) [MIM:609820]	SWISS	403	smart00702	13489073,NP_071334
54583	32129514	Disease	p.Arg371His	VAR_045902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045902	- Erythrocytosis familial type 3 (ECYT3) [MIM:609820]	SWISS	148	pfam03171	13489073,NP_071334
54583	32129514	Disease	p.Arg371His	VAR_045902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045902	- Erythrocytosis familial type 3 (ECYT3) [MIM:609820]	SWISS	301	COG3751	13489073,NP_071334
1959	33112654	Disease	p.Ile268Asn	VAR_007735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007735	- Congenital hypomyelination neuropathy (CHN) [MIM:605253]	SWISS	No Domain	N/A	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Asp355Val	VAR_007736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007736	- Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]	SWISS	23	smart00355	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Asp355Val	VAR_007736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007736	- Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]	SWISS	23	pfam00096	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Arg359Trp	VAR_009874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009874	- Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]	SWISS	27	smart00355	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Arg359Trp	VAR_009874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009874	- Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]	SWISS	27	pfam00096	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Arg359Trp	VAR_009874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009874	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	27	smart00355	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Arg359Trp	VAR_009874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009874	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	27	pfam00096	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Arg381Cys	VAR_029958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029958	- Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]	SWISS	21	smart00355	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Arg381Cys	VAR_029958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029958	- Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]	SWISS	18	pfam00096	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Arg381His	VAR_009875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009875	- Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]	SWISS	21	smart00355	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Arg381His	VAR_009875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009875	- Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]	SWISS	18	pfam00096	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Asp383Tyr	VAR_029959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029959	- Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]	SWISS	23	smart00355	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Asp383Tyr	VAR_029959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029959	- Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]	SWISS	23	pfam00096	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Arg409Trp	VAR_007738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007738	- Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]	SWISS	18	pfam00096	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
1959	33112654	Disease	p.Arg409Trp	VAR_007738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007738	- Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]	SWISS	21	smart00355	209969755,NP_001129650|209969753,NP_001129649|9845524,NP_000390
9451	296439367	Disease	p.Arg588Gln	VAR_011408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011408	- Wolcott-Rallison syndrome (WRS) [MIM:226980]	SWISS	No Domain	N/A	134304838,NP_004827
1967	2494303	Disease	p.Asn208Tyr	VAR_015404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015404	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	291	COG1184	4503503,NP_001405
1967	2494303	Disease	p.Asn208Tyr	VAR_015404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015404	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	298	COG0182	4503503,NP_001405
1967	2494303	Disease	p.Asn208Tyr	VAR_015404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015404	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	293	pfam01008	4503503,NP_001405
8892	6226858	Disease	p.Ser171Phe	VAR_016842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016842	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	183	pfam01008	7657058,NP_055054
8892	6226858	Disease	p.Ser171Phe	VAR_016842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016842	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	192	COG0182	7657058,NP_055054
8892	6226858	Disease	p.Ser171Phe	VAR_016842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016842	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	209	COG1184	7657058,NP_055054
8892	6226858	Disease	p.Glu213Gly	VAR_012289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012289	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	254	pfam01008	7657058,NP_055054
8892	6226858	Disease	p.Glu213Gly	VAR_012289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012289	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	260	COG0182	7657058,NP_055054
8892	6226858	Disease	p.Glu213Gly	VAR_012289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012289	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	256	COG1184	7657058,NP_055054
8892	6226858	Disease	p.Lys273Arg	VAR_012321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012321	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	319	pfam01008	7657058,NP_055054
8892	6226858	Disease	p.Lys273Arg	VAR_012321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012321	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	328	COG0182	7657058,NP_055054
8892	6226858	Disease	p.Lys273Arg	VAR_012321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012321	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	317	COG1184	7657058,NP_055054
8892	6226858	Disease	p.Val316Asp	VAR_012290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012290	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	428	pfam01008	7657058,NP_055054
8892	6226858	Disease	p.Val316Asp	VAR_012290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012290	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	391	COG0182	7657058,NP_055054
8892	6226858	Disease	p.Val316Asp	VAR_012290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012290	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	427	COG1184	7657058,NP_055054
8892	6226858	Disease	p.Gly329Val	VAR_012322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012322	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	441	pfam01008	7657058,NP_055054
8892	6226858	Disease	p.Gly329Val	VAR_012322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012322	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	404	COG0182	7657058,NP_055054
8892	6226858	Disease	p.Gly329Val	VAR_012322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012322	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	440	COG1184	7657058,NP_055054
8891	18203317	Disease	p.Ala87Val	VAR_015409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015409	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	109	pfam00483	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	VAR_015409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015409	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	91	cd06422	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	VAR_015409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015409	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	93	COG1213	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	VAR_015409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015409	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	90	cd06425	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	VAR_015409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015409	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	157	cd02507	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	VAR_015409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015409	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	157	cd04198	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	VAR_015409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015409	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	108	cd02503	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	VAR_015409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015409	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	78	COG2266	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	VAR_015409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015409	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	104	cd04197	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	VAR_015409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015409	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	87	cd04189	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	VAR_015409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015409	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	120	cd04182	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	VAR_015409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015409	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	181	COG1209	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	VAR_015409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015409	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	148	COG1208	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	VAR_015409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015409	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	84	cd06426	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	VAR_015409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015409	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	90	cd06915	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	VAR_015409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015409	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	101	cd02523	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	VAR_015409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015409	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	148	cd04181	9966779,NP_065098
8891	18203317	Disease	p.Ala87Val	VAR_015409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015409	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	95	cd02540	9966779,NP_065098
8891	18203317	Disease	p.Arg225Gln	VAR_015410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015410	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	304	COG1208	9966779,NP_065098
8891	18203317	Disease	p.Arg225Gln	VAR_015410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015410	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	335	cd04181	9966779,NP_065098
8890	28381357	Disease	p.Ala228Val	VAR_015405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015405	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	11	pfam01008	78000158,NP_001029288
8890	28381357	Disease	p.Ala228Val	VAR_015405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015405	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	27	COG1184	78000158,NP_001029288
8890	28381357	Disease	p.Arg357Gln	VAR_015407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015407	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	234	COG0182	78000158,NP_001029288
8890	28381357	Disease	p.Arg357Gln	VAR_015407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015407	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	227	pfam01008	78000158,NP_001029288
8890	28381357	Disease	p.Arg357Gln	VAR_015407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015407	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	228	COG1184	78000158,NP_001029288
8890	28381357	Disease	p.Arg374Cys	VAR_015408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015408	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	252	COG0182	78000158,NP_001029288
8890	28381357	Disease	p.Arg374Cys	VAR_015408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015408	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	246	pfam01008	78000158,NP_001029288
8890	28381357	Disease	p.Arg374Cys	VAR_015408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015408	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	247	COG1184	78000158,NP_001029288
8890	28381357	Disease	p.Cys465Arg	VAR_016843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016843	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	374	COG0182	78000158,NP_001029288
8890	28381357	Disease	p.Cys465Arg	VAR_016843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016843	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	342	pfam01008	78000158,NP_001029288
8890	28381357	Disease	p.Cys465Arg	VAR_016843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016843	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	387	COG1184	78000158,NP_001029288
8890	28381357	Disease	p.Tyr489His	VAR_016844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016844	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	388	COG0182	78000158,NP_001029288
8890	28381357	Disease	p.Tyr489His	VAR_016844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016844	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	425	pfam01008	78000158,NP_001029288
8890	28381357	Disease	p.Tyr489His	VAR_016844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016844	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	424	COG1184	78000158,NP_001029288
8893	160359049	Disease	p.Val73Gly	VAR_012323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012323	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	48	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Val73Gly	VAR_012323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012323	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	55	cd04181	83267879,NP_003898
8893	160359049	Disease	p.Val73Gly	VAR_012323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012323	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	32	cd04197	83267879,NP_003898
8893	160359049	Disease	p.Val73Gly	VAR_012323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012323	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	75	cd04198	83267879,NP_003898
8893	160359049	Disease	p.Val73Gly	VAR_012323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012323	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	75	cd02507	83267879,NP_003898
8893	160359049	Disease	p.Thr91Ala	VAR_012291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012291	rs28939717 Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	67	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Thr91Ala	VAR_012291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012291	rs28939717 Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	76	cd04181	83267879,NP_003898
8893	160359049	Disease	p.Thr91Ala	VAR_012291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012291	rs28939717 Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	50	cd04197	83267879,NP_003898
8893	160359049	Disease	p.Thr91Ala	VAR_012291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012291	rs28939717 Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	97	cd04198	83267879,NP_003898
8893	160359049	Disease	p.Thr91Ala	VAR_012291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012291	rs28939717 Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	97	cd02507	83267879,NP_003898
8893	160359049	Disease	p.Leu106Phe	VAR_012324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012324	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	87	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Leu106Phe	VAR_012324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012324	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	92	cd04181	83267879,NP_003898
8893	160359049	Disease	p.Leu106Phe	VAR_012324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012324	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	65	cd04197	83267879,NP_003898
8893	160359049	Disease	p.Leu106Phe	VAR_012324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012324	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	112	cd04198	83267879,NP_003898
8893	160359049	Disease	p.Leu106Phe	VAR_012324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012324	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	112	cd02507	83267879,NP_003898
8893	160359049	Disease	p.Arg113His	VAR_012292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012292	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	110	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Arg113His	VAR_012292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012292	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	119	cd04181	83267879,NP_003898
8893	160359049	Disease	p.Arg113His	VAR_012292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012292	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	72	cd04197	83267879,NP_003898
8893	160359049	Disease	p.Arg113His	VAR_012292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012292	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	138	cd04198	83267879,NP_003898
8893	160359049	Disease	p.Arg113His	VAR_012292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012292	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	136	cd02507	83267879,NP_003898
8893	160359049	Disease	p.Arg195Cys	VAR_016845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016845	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	227_G	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Arg195Cys	VAR_016845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016845	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	227	cd04181	83267879,NP_003898
8893	160359049	Disease	p.Arg195Cys	VAR_016845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016845	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	173	cd04197	83267879,NP_003898
8893	160359049	Disease	p.Arg195Cys	VAR_016845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016845	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	300	cd04198	83267879,NP_003898
8893	160359049	Disease	p.Arg195Cys	VAR_016845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016845	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	302	cd02507	83267879,NP_003898
8893	160359049	Disease	p.Arg195His	VAR_016846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016846	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	227_G	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Arg195His	VAR_016846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016846	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	227	cd04181	83267879,NP_003898
8893	160359049	Disease	p.Arg195His	VAR_016846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016846	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	173	cd04197	83267879,NP_003898
8893	160359049	Disease	p.Arg195His	VAR_016846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016846	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	300	cd04198	83267879,NP_003898
8893	160359049	Disease	p.Arg195His	VAR_016846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016846	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	302	cd02507	83267879,NP_003898
8893	160359049	Disease	p.Arg299His	VAR_012325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012325	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	365	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Arg315Gly	VAR_012326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012326	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	381	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Arg315His	VAR_012327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012327	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	381	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Arg339Pro	VAR_012328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012328	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	12	cd05636	83267879,NP_003898
8893	160359049	Disease	p.Arg339Pro	VAR_012328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012328	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	413	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Arg339Gln	VAR_012329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012329	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	12	cd05636	83267879,NP_003898
8893	160359049	Disease	p.Arg339Gln	VAR_012329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012329	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	413	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Arg339Trp	VAR_012330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012330	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	12	cd05636	83267879,NP_003898
8893	160359049	Disease	p.Arg339Trp	VAR_012330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012330	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	413	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Gly386Val	VAR_012293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012293	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	39	cd04651	83267879,NP_003898
8893	160359049	Disease	p.Gly386Val	VAR_012293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012293	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	26	cd05787	83267879,NP_003898
8893	160359049	Disease	p.Gly386Val	VAR_012293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012293	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	28	cd03356	83267879,NP_003898
8893	160359049	Disease	p.Gly386Val	VAR_012293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012293	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	26	cd04652	83267879,NP_003898
8893	160359049	Disease	p.Gly386Val	VAR_012293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012293	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	70	cd03352	83267879,NP_003898
8893	160359049	Disease	p.Gly386Val	VAR_012293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012293	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	54	cd05636	83267879,NP_003898
8893	160359049	Disease	p.Gly386Val	VAR_012293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012293	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	473	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Gly386Val	VAR_012293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012293	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	44	cd03358	83267879,NP_003898
8893	160359049	Disease	p.Val430Ala	VAR_012331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012331	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	104	cd04651	83267879,NP_003898
8893	160359049	Disease	p.Val430Ala	VAR_012331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012331	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	70	cd05787	83267879,NP_003898
8893	160359049	Disease	p.Val430Ala	VAR_012331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012331	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	108	cd03356	83267879,NP_003898
8893	160359049	Disease	p.Val430Ala	VAR_012331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012331	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	70	cd04652	83267879,NP_003898
8893	160359049	Disease	p.Val430Ala	VAR_012331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012331	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	207	cd03352	83267879,NP_003898
8893	160359049	Disease	p.Val430Ala	VAR_012331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012331	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	154	cd05636	83267879,NP_003898
8893	160359049	Disease	p.Val430Ala	VAR_012331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012331	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	566	COG1208	83267879,NP_003898
8893	160359049	Disease	p.Val430Ala	VAR_012331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012331	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	116	cd03358	83267879,NP_003898
8893	160359049	Disease	p.Trp628Arg	VAR_012294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012294	rs28937596 Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	No Domain	N/A	83267879,NP_003898
8893	160359049	Disease	p.Glu650Lys	VAR_012333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012333	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	24	smart00515	83267879,NP_003898
8893	160359049	Disease	p.Glu650Lys	VAR_012333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012333	- Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	SWISS	9	pfam02020	83267879,NP_003898
1991	119292	Disease	p.Gly32Val	VAR_009538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009538	- Cyclic haematopoiesis (CH) [MIM:162800]	SWISS	3	cd00190	4503549,NP_001963
1991	119292	Disease	p.Gly32Val	VAR_009538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009538	- Cyclic haematopoiesis (CH) [MIM:162800]	SWISS	3	pfam00089	4503549,NP_001963
1991	119292	Disease	p.Gly32Val	VAR_009538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009538	- Cyclic haematopoiesis (CH) [MIM:162800]	SWISS	4	smart00020	4503549,NP_001963
1991	119292	Disease	p.Val177Phe	VAR_009539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009539	- Cyclic haematopoiesis (CH) [MIM:162800]	SWISS	267	cd00190	4503549,NP_001963
1991	119292	Disease	p.Val177Phe	VAR_009539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009539	- Cyclic haematopoiesis (CH) [MIM:162800]	SWISS	225	pfam00089	4503549,NP_001963
1991	119292	Disease	p.Val177Phe	VAR_009539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009539	- Cyclic haematopoiesis (CH) [MIM:162800]	SWISS	403	smart00020	4503549,NP_001963
1991	119292	Disease	p.Arg191Gln	VAR_009540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009540	- Cyclic haematopoiesis (CH) [MIM:162800]	SWISS	314	cd00190	4503549,NP_001963
1991	119292	Disease	p.Arg191Gln	VAR_009540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009540	- Cyclic haematopoiesis (CH) [MIM:162800]	SWISS	274	pfam00089	4503549,NP_001963
1991	119292	Disease	p.Arg191Gln	VAR_009540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009540	- Cyclic haematopoiesis (CH) [MIM:162800]	SWISS	468	smart00020	4503549,NP_001963
2010	1706639	Disease	p.Ser54Phe	VAR_005198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005198	- Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300]	SWISS	No Domain	N/A	4557553,NP_000108
2010	1706639	Disease	p.Gln133His	VAR_016016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016016	- Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300]	SWISS	No Domain	N/A	4557553,NP_000108
2010	1706639	Disease	p.Pro183His	VAR_005199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005199	- Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300]	SWISS	No Domain	N/A	4557553,NP_000108
2010	1706639	Disease	p.Pro183Thr	VAR_005200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005200	- Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300]	SWISS	No Domain	N/A	4557553,NP_000108
10436	20532172	Disease	p.Asp86Gly	VAR_062480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062480	- Bowen-Conradi syndrome (BWCNS) [MIM:211180]	SWISS	138	pfam03587	194328699,NP_006322
10436	20532172	Disease	p.Asp86Gly	VAR_062480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062480	- Bowen-Conradi syndrome (BWCNS) [MIM:211180]	SWISS	67	COG1756	194328699,NP_006322
2022	3041681	Disease	p.Leu8Pro	VAR_026774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026774	- Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]	SWISS	No Domain	N/A	168693647,NP_001108225
2022	3041681	Disease	p.Val49Phe	VAR_026775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026775	- Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]	SWISS	No Domain	N/A	168693647,NP_001108225
2022	3041681	Disease	p.Gly52Val	VAR_005193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005193	- Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]	SWISS	No Domain	N/A	168693647,NP_001108225
2022	3041681	Disease	p.Cys53Arg	VAR_005194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005194	- Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]	SWISS	No Domain	N/A	168693647,NP_001108225
2022	3041681	Disease	p.Leu107Arg	VAR_026776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026776	- Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]	SWISS	No Domain	N/A	168693647,NP_001108225
2022	3041681	Disease	p.Trp149Cys	VAR_005195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005195	- Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]	SWISS	No Domain	N/A	168693647,NP_001108225
2022	3041681	Disease	p.Ala160Asp	VAR_009120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009120	- Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]	SWISS	No Domain	N/A	168693647,NP_001108225
2022	3041681	Disease	p.Leu221Pro	VAR_009121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009121	- Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]	SWISS	No Domain	N/A	168693647,NP_001108225
2022	3041681	Disease	p.Ile263Thr	VAR_026780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026780	- Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]	SWISS	No Domain	N/A	168693647,NP_001108225
2022	3041681	Disease	p.Leu306Pro	VAR_005197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005197	- Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]	SWISS	No Domain	N/A	168693647,NP_001108225
2022	3041681	Disease	p.Cys412Ser	VAR_026781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026781	- Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]	SWISS	178	pfam00100	168693647,NP_001108225
2022	3041681	Disease	p.Gly413Val	VAR_037140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037140	- Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]	SWISS	179	pfam00100	168693647,NP_001108225
2022	3041681	Disease	p.Val504Met	VAR_026782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026782	- Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]	SWISS	530	pfam00100	168693647,NP_001108225
2022	3041681	Disease	p.Ser615Leu	VAR_026783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026783	- Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]	SWISS	No Domain	N/A	168693647,NP_001108225
2027	254763441	Disease	p.Gly156Asp	VAR_020620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020620	- Glycogen storage disease type 13 (GSD13) [MIM:612932]	SWISS	227	cd00308	NULL
2027	254763441	Disease	p.Gly156Asp	VAR_020620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020620	- Glycogen storage disease type 13 (GSD13) [MIM:612932]	SWISS	175	COG0148	NULL
2027	254763441	Disease	p.Gly156Asp	VAR_020620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020620	- Glycogen storage disease type 13 (GSD13) [MIM:612932]	SWISS	15	pfam00113	NULL
2027	254763441	Disease	p.Gly156Asp	VAR_020620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020620	- Glycogen storage disease type 13 (GSD13) [MIM:612932]	SWISS	177	cd03313	NULL
2027	254763441	Disease	p.Gly374Glu	VAR_020621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020621	- Glycogen storage disease type 13 (GSD13) [MIM:612932]	SWISS	466	cd00308	NULL
2027	254763441	Disease	p.Gly374Glu	VAR_020621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020621	- Glycogen storage disease type 13 (GSD13) [MIM:612932]	SWISS	423	COG0148	NULL
2027	254763441	Disease	p.Gly374Glu	VAR_020621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020621	- Glycogen storage disease type 13 (GSD13) [MIM:612932]	SWISS	240	pfam00113	NULL
2027	254763441	Disease	p.Gly374Glu	VAR_020621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020621	- Glycogen storage disease type 13 (GSD13) [MIM:612932]	SWISS	430	cd03313	NULL
5167	23503088	Disease	p.Leu91Pro	VAR_014141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014141	- Increased susceptibility for ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475]	SWISS	No Domain	N/A	170650661,NP_006199
5167	23503088	Disease	p.Gly266Val	VAR_063719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063719	- Rickets hypophosphatemic autosomal recessive type 2 (ARHR2) [MIM:613312]	SWISS	114	COG1524	170650661,NP_006199
5167	23503088	Disease	p.Gly266Val	VAR_063719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063719	- Rickets hypophosphatemic autosomal recessive type 2 (ARHR2) [MIM:613312]	SWISS	72	pfam01663	170650661,NP_006199
5167	23503088	Disease	p.Ser287Phe	VAR_014143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014143	- Increased susceptibility for ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475]	SWISS	135	COG1524	170650661,NP_006199
5167	23503088	Disease	p.Ser287Phe	VAR_014143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014143	- Increased susceptibility for ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475]	SWISS	136	pfam01663	170650661,NP_006199
5167	23503088	Disease	p.Gly342Val	VAR_037433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037433	- Idiopathic infantile arterial calcification (IIAC) [MIM:208000]	SWISS	246	COG1524	170650661,NP_006199
5167	23503088	Disease	p.Gly342Val	VAR_037433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037433	- Idiopathic infantile arterial calcification (IIAC) [MIM:208000]	SWISS	235	pfam01663	170650661,NP_006199
5167	23503088	Disease	p.Tyr371Phe	VAR_037434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037434	- Idiopathic infantile arterial calcification (IIAC) [MIM:208000]	SWISS	357	COG1524	170650661,NP_006199
5167	23503088	Disease	p.Tyr371Phe	VAR_037434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037434	- Idiopathic infantile arterial calcification (IIAC) [MIM:208000]	SWISS	331	pfam01663	170650661,NP_006199
5167	23503088	Disease	p.Leu579Phe	VAR_018514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018514	- Idiopathic infantile arterial calcification (IIAC) [MIM:208000]	SWISS	659	COG1524	170650661,NP_006199
5167	23503088	Disease	p.Arg774Cys	VAR_018515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018515	rs28933977 Idiopathic infantile arterial calcification (IIAC) [MIM:208000]	SWISS	157	smart00477	170650661,NP_006199
5167	23503088	Disease	p.Arg774Cys	VAR_018515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018515	rs28933977 Idiopathic infantile arterial calcification (IIAC) [MIM:208000]	SWISS	140	cd00091	170650661,NP_006199
5167	23503088	Disease	p.Arg774Cys	VAR_018515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018515	rs28933977 Idiopathic infantile arterial calcification (IIAC) [MIM:208000]	SWISS	204	COG1864	170650661,NP_006199
5167	23503088	Disease	p.Tyr901Ser	VAR_063720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063720	- Rickets hypophosphatemic autosomal recessive type 2 (ARHR2) [MIM:613312]	SWISS	335	smart00477	170650661,NP_006199
5167	23503088	Disease	p.Tyr901Ser	VAR_063720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063720	- Rickets hypophosphatemic autosomal recessive type 2 (ARHR2) [MIM:613312]	SWISS	285	cd00091	170650661,NP_006199
5167	23503088	Disease	p.Tyr901Ser	VAR_063720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063720	- Rickets hypophosphatemic autosomal recessive type 2 (ARHR2) [MIM:613312]	SWISS	333	COG1864	170650661,NP_006199
2034	32470617	Disease	p.Gly537Trp	VAR_042443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042443	- Erythrocytosis familial type 4 (ECYT4) [MIM:611783]	SWISS	22	pfam11413	40254439,NP_001421
2038	215274164	Disease	p.Ala112Thr	VAR_007482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007482	rs28933988 Spherocytosis type 5 (SPH5) [MIM:612690]	SWISS	147	pfam00868	166362737,NP_001107606
2038	215274164	Disease	p.Asp145Tyr	VAR_058099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058099	- Spherocytosis type 5 (SPH5) [MIM:612690]	SWISS	No Domain	N/A	166362737,NP_001107606
2038	215274164	Disease	p.Arg280Gln	VAR_012268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012268	- Spherocytosis type 5 (SPH5) [MIM:612690]	SWISS	101	pfam01841	166362737,NP_001107606
2038	215274164	Disease	p.Arg280Gln	VAR_012268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012268	- Spherocytosis type 5 (SPH5) [MIM:612690]	SWISS	21	smart00460	166362737,NP_001107606
2038	215274164	Disease	p.Arg287Cys	VAR_058100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058100	- Spherocytosis type 5 (SPH5) [MIM:612690]	SWISS	109	pfam01841	166362737,NP_001107606
2038	215274164	Disease	p.Arg287Cys	VAR_058100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058100	- Spherocytosis type 5 (SPH5) [MIM:612690]	SWISS	28	smart00460	166362737,NP_001107606
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	123	cd06657	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	131	cd07850	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	144	cd05101	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	124	cd06659	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	128	cd06633	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	111	cd07872	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	141	cd05100	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	113	cd06646	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	124	cd05076	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	131	cd07865	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	129	cd07880	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	122	cd06656	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	145	cd07851	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	247	cd05105	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	249	cd05107	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	108	cd05578	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	110	cd06613	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	111	cd05584	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	109	cd05601	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	114	cd08222	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	129	cd07833	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	114	cd06627	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	105	cd05582	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	113	cd08530	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	119	cd06610	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	114	cd08224	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	111	cd07844	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	110	cd07870	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	125	cd07864	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	123	cd06648	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	122	cd07832	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	112	cd07846	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	138	cd07866	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	105	cd05606	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	107	cd07860	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	128	cd07841	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	147	cd07829	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	120_G	cd08220	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	116	cd05118	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	159	cd07830	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	106	cd07839	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	112	cd05148	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	111	cd06631	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	110	cd06630	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	145	cd08215	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	109	cd08221	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	125	cd07837	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	120	cd06624	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	110	cd06643	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	139	cd07855	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	125	cd06618	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	115	cd07856	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	234	cd05055	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	122	cd06634	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	122	cd06607	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	141	cd05099	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	116	cd05110	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	116	cd05108	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	375	smart00220	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	125	cd07843	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	108	cd06642	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	108	cd06640	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	117	cd06622	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	477	COG0515	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	124_G	cd06619	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	108	cd06615	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	108	cd06641	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	130	cd06609	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	109	cd05609	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	117	cd07862	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	142	cd06623	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	124	cd06605	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	113	cd08228	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	113	cd08229	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	111	cd07873	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	158	cd05580	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	108	cd05612	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	121_G	cd06621	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	107	cd07847	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	110	cd07871	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	117	cd06917	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	111_G	cd06617	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	122	cd06647	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	125	cd06658	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	461	smart00221	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	112	cd05614	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	133	cd07835	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	126	cd05089	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	154	cd07834	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	134	cd05075	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	120	cd05074	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	130	cd05035	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	108	cd05589	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	391	smart00219	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	261	pfam07714	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	187	pfam00069	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	113	cd05587	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	109	cd07861	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	108	cd08218	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	154	cd05102	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	125	cd05103	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	116	cd05111	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	235	cd05054	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	109	cd05605	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	115	cd06628	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	129	cd05092	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	114	cd07859	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	134	cd05045	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	140	cd05122	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	110	cd07836	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	108	cd05615	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	187	cd06606	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	115	cd07853	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	156	cd07840	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	113_G	cd05613	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	131	cd06638	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	157	cd06614	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	168	cd05057	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	126	cd05062	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	148	cd05095	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	140	cd05050	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	193	cd05046	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	168	cd05051	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	171	cd05032	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	163	cd05096	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	134	cd05049	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	138	cd05097	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	113	cd05039	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	127	cd05093	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	130	cd05094	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	118	cd06637	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	115	cd05063	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	114	cd05064	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	111	cd05052	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	110	cd05073	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	109	cd05069	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	131	cd05091	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	109	cd05067	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	131	cd05048	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	109	cd05070	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	110	cd05072	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	109	cd05082	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	112	cd05068	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	110	cd05034	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	128	cd05090	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	112	cd06620	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	127	cd05061	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	109	cd05071	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	157	cd05053	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	112	cd05058	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	102	cd05593	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	223	cd05581	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	126	cd06632	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	112	cd08217	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	115	cd05081	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	116	cd07857	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	103	cd05603	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	103	cd05592	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	117	cd06629	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	102	cd05571	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	103	cd05591	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	105	cd05570	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	137	cd07854	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	103	cd05575	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	112	cd05583	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	109	cd05060	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	102	cd05116	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	108	cd08225	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	119	cd05047	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	129	cd08528	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	103	cd05041	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	112	cd05087	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	101	cd05085	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	110	cd05042	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	101	cd05084	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	107	cd05086	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	111	cd05040	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	117	cd05044	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	130	cd05574	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	150	cd06608	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	112	cd05077	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	314	cd00192	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	109	cd05078	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	126	cd05037	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	102	cd05595	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	103	cd05602	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	103	cd05619	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	113	cd08529	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	102	cd05594	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	107	cd08219	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	113	cd06625	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	113	cd06651	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	113	cd06653	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	122	cd06612	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	128	cd07845	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	109	cd08223	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	137	cd06652	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	229	cd05106	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	128	cd06636	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	147	cd05098	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	142	cd06639	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	113	cd06626	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	123	cd06654	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	134	cd07876	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	122	cd06655	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	121	cd07849	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	116	cd07858	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	125	cd05036	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	143	cd05056	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	131	cd05088	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	132	cd06635	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	112	cd06611	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	100	cd05585	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	108	cd07831	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	133	cd07838	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	121_G	cd06616	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	103	cd05586	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	115	cd07867	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	211	cd07842	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	174	cd05572	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	337	cd00180	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	107	cd05577	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	118	cd07863	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	103	cd05579	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	622	cd05123	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	102	cd05115	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	113	cd05065	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	140	cd05033	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	113	cd05066	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	135	cd05038	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	116	cd05079	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	149	cd05043	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	107	cd05083	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	123	cd07852	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	107	cd05114	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	109	cd05059	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	108	cd05113	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	107	cd05112	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	116	cd05109	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	114	cd05080	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	162	cd05104	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	113	cd06645	32967311,NP_004422
1969	229462861	Disease	p.Arg721Gln	VAR_062532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062532	- Cataract cortical age-related type 2 (ARCC2) [MIM:613020]	SWISS	117	cd06644	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	VAR_058907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058907	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	334	cd07880	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	VAR_058907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058907	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	326	cd07856	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	VAR_058907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058907	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	1373	COG0515	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	VAR_058907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058907	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	49	pfam07647	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	VAR_058907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058907	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	61	smart00454	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	VAR_058907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058907	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	324	cd05587	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	VAR_058907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058907	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	328	cd07859	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	VAR_058907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058907	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	365	cd07853	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	VAR_058907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058907	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	47	pfam00536	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	VAR_058907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058907	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	302	cd05591	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	VAR_058907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058907	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	353	cd07876	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	VAR_058907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058907	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	321	cd07858	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	VAR_058907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058907	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	337	cd05586	32967311,NP_004422
1969	229462861	Disease	p.Thr940Ile	VAR_058907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058907	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	52	cd00166	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	VAR_058908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058908	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	342	cd07880	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	VAR_058908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058908	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	1381	COG0515	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	VAR_058908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058908	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	60	pfam07647	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	VAR_058908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058908	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	72	smart00454	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	VAR_058908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058908	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	336	cd07859	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	VAR_058908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058908	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	381	cd07853	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	VAR_058908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058908	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	58	pfam00536	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	VAR_058908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058908	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	306_G	cd05591	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	VAR_058908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058908	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	331	cd07858	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	VAR_058908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058908	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	344_G	cd05586	32967311,NP_004422
1969	229462861	Disease	p.Gly948Trp	VAR_058908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058908	- Cataract posterior polar type 1 (CTPP1) [MIM:116600]	SWISS	62	cd00166	32967311,NP_004422
7957	50400258	Disease	p.Ser25Pro	VAR_019465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019465	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	25	cd05806	11321613,NP_005661
7957	50400258	Disease	p.Ser25Pro	VAR_019465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019465	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	32	pfam00686	11321613,NP_005661
7957	50400258	Disease	p.Ser25Pro	VAR_019465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019465	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	24	cd05467	11321613,NP_005661
7957	50400258	Disease	p.Glu28Lys	VAR_019466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019466	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	28	cd05806	11321613,NP_005661
7957	50400258	Disease	p.Glu28Lys	VAR_019466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019466	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	35	pfam00686	11321613,NP_005661
7957	50400258	Disease	p.Glu28Lys	VAR_019466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019466	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	27	cd05467	11321613,NP_005661
7957	50400258	Disease	p.Trp32Gly	VAR_019467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019467	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	32	cd05806	11321613,NP_005661
7957	50400258	Disease	p.Trp32Gly	VAR_019467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019467	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	39	pfam00686	11321613,NP_005661
7957	50400258	Disease	p.Trp32Gly	VAR_019467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019467	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	31	cd05467	11321613,NP_005661
7957	50400258	Disease	p.Phe84Leu	VAR_019469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019469	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	93	cd05806	11321613,NP_005661
7957	50400258	Disease	p.Phe84Leu	VAR_019469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019469	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	87	pfam00686	11321613,NP_005661
7957	50400258	Disease	p.Phe84Leu	VAR_019469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019469	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	94	cd05467	11321613,NP_005661
7957	50400258	Disease	p.Phe88Leu	VAR_019470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019470	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	97	cd05806	11321613,NP_005661
7957	50400258	Disease	p.Phe88Leu	VAR_019470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019470	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	91	pfam00686	11321613,NP_005661
7957	50400258	Disease	p.Phe88Leu	VAR_019470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019470	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	98	cd05467	11321613,NP_005661
7957	50400258	Disease	p.Arg91Pro	VAR_019471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019471	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	100	cd05806	11321613,NP_005661
7957	50400258	Disease	p.Arg91Pro	VAR_019471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019471	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	99	pfam00686	11321613,NP_005661
7957	50400258	Disease	p.Arg91Pro	VAR_019471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019471	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	101	cd05467	11321613,NP_005661
7957	50400258	Disease	p.Arg108Cys	VAR_019472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019472	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	117	cd05806	11321613,NP_005661
7957	50400258	Disease	p.Arg108Cys	VAR_019472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019472	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	127	pfam00686	11321613,NP_005661
7957	50400258	Disease	p.Arg108Cys	VAR_019472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019472	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	134	cd05467	11321613,NP_005661
7957	50400258	Disease	p.Lys140Asn	VAR_046383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046383	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	No Domain	N/A	11321613,NP_005661
7957	50400258	Disease	p.Asn148Tyr	VAR_046384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046384	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	No Domain	N/A	11321613,NP_005661
7957	50400258	Disease	p.Arg171His	VAR_019474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019474	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	16	cd00127	11321613,NP_005661
7957	50400258	Disease	p.Arg171His	VAR_019474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019474	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	8	pfam00782	11321613,NP_005661
7957	50400258	Disease	p.Arg171His	VAR_019474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019474	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	18	smart00195	11321613,NP_005661
7957	50400258	Disease	p.Thr187Ala	VAR_019475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019475	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	32	cd00127	11321613,NP_005661
7957	50400258	Disease	p.Thr187Ala	VAR_019475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019475	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	23	pfam00782	11321613,NP_005661
7957	50400258	Disease	p.Thr187Ala	VAR_019475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019475	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	43	smart00195	11321613,NP_005661
7957	50400258	Disease	p.Thr194Ile	VAR_019476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019476	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	39	cd00127	11321613,NP_005661
7957	50400258	Disease	p.Thr194Ile	VAR_019476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019476	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	30	pfam00782	11321613,NP_005661
7957	50400258	Disease	p.Thr194Ile	VAR_019476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019476	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	52	smart00195	11321613,NP_005661
7957	50400258	Disease	p.Glu210Lys	VAR_046385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046385	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	55	cd00127	11321613,NP_005661
7957	50400258	Disease	p.Glu210Lys	VAR_046385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046385	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	40_G	pfam00782	11321613,NP_005661
7957	50400258	Disease	p.Glu210Lys	VAR_046385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046385	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	91	smart00195	11321613,NP_005661
7957	50400258	Disease	p.Gly240Ser	VAR_019477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019477	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	122	cd00127	11321613,NP_005661
7957	50400258	Disease	p.Gly240Ser	VAR_019477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019477	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	77	pfam00782	11321613,NP_005661
7957	50400258	Disease	p.Gly240Ser	VAR_019477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019477	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	167	smart00195	11321613,NP_005661
7957	50400258	Disease	p.Gly279Ser	VAR_019478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019478	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	162	cd00127	11321613,NP_005661
7957	50400258	Disease	p.Gly279Ser	VAR_019478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019478	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	120	pfam00782	11321613,NP_005661
7957	50400258	Disease	p.Gly279Ser	VAR_019478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019478	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	240	smart00195	11321613,NP_005661
7957	50400258	Disease	p.Gln293Leu	VAR_019479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019479	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	182	cd00127	11321613,NP_005661
7957	50400258	Disease	p.Gln293Leu	VAR_019479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019479	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	135	pfam00782	11321613,NP_005661
7957	50400258	Disease	p.Gln293Leu	VAR_019479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019479	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	254	smart00195	11321613,NP_005661
7957	50400258	Disease	p.Tyr294Asn	VAR_019480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019480	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	183	cd00127	11321613,NP_005661
7957	50400258	Disease	p.Tyr294Asn	VAR_019480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019480	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	136	pfam00782	11321613,NP_005661
7957	50400258	Disease	p.Tyr294Asn	VAR_019480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019480	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	255	smart00195	11321613,NP_005661
7957	50400258	Disease	p.Pro301Leu	VAR_019481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019481	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	190	cd00127	11321613,NP_005661
7957	50400258	Disease	p.Pro301Leu	VAR_019481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019481	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	150	pfam00782	11321613,NP_005661
7957	50400258	Disease	p.Pro301Leu	VAR_019481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019481	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	275	smart00195	11321613,NP_005661
7957	50400258	Disease	p.Leu310Trp	VAR_046386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046386	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	209	cd00127	11321613,NP_005661
7957	50400258	Disease	p.Leu310Trp	VAR_046386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046386	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	159	pfam00782	11321613,NP_005661
7957	50400258	Disease	p.Leu310Trp	VAR_046386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046386	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	285	smart00195	11321613,NP_005661
2057	119524	Disease	p.Asn487Ser	VAR_027372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027372	- Erythrocytosis familial type 1 (ECYT1) [MIM:133100]	SWISS	No Domain	N/A	4503591,NP_000112
2057	119524	Disease	p.Pro488Ser	VAR_027373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027373	- Erythrocytosis familial type 1 (ECYT1) [MIM:133100]	SWISS	No Domain	N/A	4503591,NP_000112
8288	1352738	Disease	p.Arg286His	VAR_015376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015376	- Eosinophil peroxidase deficiency (EPD) [MIM:261500]	SWISS	306	pfam03098	4503595,NP_000493
2067	119538	Disease	p.Phe231Leu	VAR_032776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032776	- Cerebro-oculo-facio-skeletal syndrome type 4 (COFS4) [MIM:610758]	SWISS	177	COG5241	4503599,NP_001974
2068	119540	Disease	p.Gly47Arg	VAR_008187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008187	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	41	smart00489	15834617,NP_000391
2068	119540	Disease	p.Gly47Arg	VAR_008187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008187	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	41	smart00488	15834617,NP_000391
2068	119540	Disease	p.Gly47Arg	VAR_008187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008187	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	154	COG1199	15834617,NP_000391
2068	119540	Disease	p.Thr76Ala	VAR_017282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017282	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	109	smart00489	15834617,NP_000391
2068	119540	Disease	p.Thr76Ala	VAR_017282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017282	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	109	smart00488	15834617,NP_000391
2068	119540	Disease	p.Thr76Ala	VAR_017282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017282	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	5	pfam06733	15834617,NP_000391
2068	119540	Disease	p.Thr76Ala	VAR_017282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017282	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	186	COG1199	15834617,NP_000391
2068	119540	Disease	p.Arg112His	VAR_003622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003622	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	256	smart00489	15834617,NP_000391
2068	119540	Disease	p.Arg112His	VAR_003622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003622	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	256	smart00488	15834617,NP_000391
2068	119540	Disease	p.Arg112His	VAR_003622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003622	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	44	pfam06733	15834617,NP_000391
2068	119540	Disease	p.Arg112His	VAR_003622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003622	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	249	COG1199	15834617,NP_000391
2068	119540	Disease	p.Arg112His	VAR_003622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003622	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	256	smart00489	15834617,NP_000391
2068	119540	Disease	p.Arg112His	VAR_003622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003622	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	256	smart00488	15834617,NP_000391
2068	119540	Disease	p.Arg112His	VAR_003622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003622	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	44	pfam06733	15834617,NP_000391
2068	119540	Disease	p.Arg112His	VAR_003622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003622	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	249	COG1199	15834617,NP_000391
2068	119540	Disease	p.Asp234Asn	VAR_008188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008188	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	433	smart00489	15834617,NP_000391
2068	119540	Disease	p.Asp234Asn	VAR_008188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008188	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	433	smart00488	15834617,NP_000391
2068	119540	Disease	p.Asp234Asn	VAR_008188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008188	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	205	pfam06733	15834617,NP_000391
2068	119540	Disease	p.Asp234Asn	VAR_008188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008188	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	440	COG1199	15834617,NP_000391
2068	119540	Disease	p.Cys259Tyr	VAR_008189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008189	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	458	smart00489	15834617,NP_000391
2068	119540	Disease	p.Cys259Tyr	VAR_008189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008189	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	458	smart00488	15834617,NP_000391
2068	119540	Disease	p.Cys259Tyr	VAR_008189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008189	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	485	COG1199	15834617,NP_000391
2068	119540	Disease	p.Leu461Val	VAR_003623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003623	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	745	COG1199	15834617,NP_000391
2068	119540	Disease	p.Leu461Val	VAR_003623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003623	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	745	COG1199	15834617,NP_000391
2068	119540	Disease	p.Leu485Pro	VAR_017283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017283	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	775	COG1199	15834617,NP_000391
2068	119540	Disease	p.Arg487Gly	VAR_017284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017284	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	777	COG1199	15834617,NP_000391
2068	119540	Disease	p.Arg511Gln	VAR_017285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017285	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	823	COG1199	15834617,NP_000391
2068	119540	Disease	p.Ser541Arg	VAR_003625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003625	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	855	COG1199	15834617,NP_000391
2068	119540	Disease	p.Tyr542Cys	VAR_008191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008191	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	856	COG1199	15834617,NP_000391
2068	119540	Disease	p.Arg592Pro	VAR_017287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017287	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	70	smart00491	15834617,NP_000391
2068	119540	Disease	p.Arg592Pro	VAR_017287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017287	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	53	smart00492	15834617,NP_000391
2068	119540	Disease	p.Arg592Pro	VAR_017287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017287	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	908	COG1199	15834617,NP_000391
2068	119540	Disease	p.Ala594Pro	VAR_017288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017288	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	72	smart00491	15834617,NP_000391
2068	119540	Disease	p.Ala594Pro	VAR_017288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017288	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	55	smart00492	15834617,NP_000391
2068	119540	Disease	p.Ala594Pro	VAR_017288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017288	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	910	COG1199	15834617,NP_000391
2068	119540	Disease	p.Arg601Leu	VAR_008192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008192	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	79	smart00491	15834617,NP_000391
2068	119540	Disease	p.Arg601Leu	VAR_008192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008192	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	62	smart00492	15834617,NP_000391
2068	119540	Disease	p.Arg601Leu	VAR_008192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008192	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	917	COG1199	15834617,NP_000391
2068	119540	Disease	p.Arg601Trp	VAR_017289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017289	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	79	smart00491	15834617,NP_000391
2068	119540	Disease	p.Arg601Trp	VAR_017289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017289	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	62	smart00492	15834617,NP_000391
2068	119540	Disease	p.Arg601Trp	VAR_017289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017289	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	917	COG1199	15834617,NP_000391
2068	119540	Disease	p.Gly602Asp	VAR_003627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003627	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	80	smart00491	15834617,NP_000391
2068	119540	Disease	p.Gly602Asp	VAR_003627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003627	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	63	smart00492	15834617,NP_000391
2068	119540	Disease	p.Gly602Asp	VAR_003627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003627	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	918	COG1199	15834617,NP_000391
2068	119540	Disease	p.Arg616Pro	VAR_003626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003626	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	94	smart00491	15834617,NP_000391
2068	119540	Disease	p.Arg616Pro	VAR_003626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003626	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	77	smart00492	15834617,NP_000391
2068	119540	Disease	p.Arg616Pro	VAR_003626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003626	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	936	COG1199	15834617,NP_000391
2068	119540	Disease	p.Arg616Pro	VAR_003626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003626	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	94	smart00491	15834617,NP_000391
2068	119540	Disease	p.Arg616Pro	VAR_003626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003626	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	77	smart00492	15834617,NP_000391
2068	119540	Disease	p.Arg616Pro	VAR_003626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003626	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	936	COG1199	15834617,NP_000391
2068	119540	Disease	p.Arg616Trp	VAR_008193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008193	- Cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) [MIM:610756]	SWISS	94	smart00491	15834617,NP_000391
2068	119540	Disease	p.Arg616Trp	VAR_008193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008193	- Cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) [MIM:610756]	SWISS	77	smart00492	15834617,NP_000391
2068	119540	Disease	p.Arg616Trp	VAR_008193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008193	- Cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) [MIM:610756]	SWISS	936	COG1199	15834617,NP_000391
2068	119540	Disease	p.Arg616Trp	VAR_008193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008193	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	94	smart00491	15834617,NP_000391
2068	119540	Disease	p.Arg616Trp	VAR_008193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008193	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	77	smart00492	15834617,NP_000391
2068	119540	Disease	p.Arg616Trp	VAR_008193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008193	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	936	COG1199	15834617,NP_000391
2068	119540	Disease	p.Arg658Cys	VAR_008194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008194	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	157	smart00491	15834617,NP_000391
2068	119540	Disease	p.Arg658Cys	VAR_008194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008194	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	129	smart00492	15834617,NP_000391
2068	119540	Disease	p.Arg658Cys	VAR_008194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008194	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	991	COG1199	15834617,NP_000391
2068	119540	Disease	p.Arg658Gly	VAR_017290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017290	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	157	smart00491	15834617,NP_000391
2068	119540	Disease	p.Arg658Gly	VAR_017290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017290	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	129	smart00492	15834617,NP_000391
2068	119540	Disease	p.Arg658Gly	VAR_017290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017290	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	991	COG1199	15834617,NP_000391
2068	119540	Disease	p.Arg658His	VAR_008195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008195	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	157	smart00491	15834617,NP_000391
2068	119540	Disease	p.Arg658His	VAR_008195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008195	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	129	smart00492	15834617,NP_000391
2068	119540	Disease	p.Arg658His	VAR_008195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008195	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	991	COG1199	15834617,NP_000391
2068	119540	Disease	p.Cys663Arg	VAR_017291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017291	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	162	smart00491	15834617,NP_000391
2068	119540	Disease	p.Cys663Arg	VAR_017291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017291	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	134	smart00492	15834617,NP_000391
2068	119540	Disease	p.Cys663Arg	VAR_017291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017291	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	996	COG1199	15834617,NP_000391
2068	119540	Disease	p.Arg666Trp	VAR_017292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017292	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	165	smart00491	15834617,NP_000391
2068	119540	Disease	p.Arg666Trp	VAR_017292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017292	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	137	smart00492	15834617,NP_000391
2068	119540	Disease	p.Arg666Trp	VAR_017292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017292	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	999	COG1199	15834617,NP_000391
2068	119540	Disease	p.Asp673Gly	VAR_008196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008196	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	172	smart00491	15834617,NP_000391
2068	119540	Disease	p.Asp673Gly	VAR_008196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008196	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	144	smart00492	15834617,NP_000391
2068	119540	Disease	p.Asp673Gly	VAR_008196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008196	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	1007	COG1199	15834617,NP_000391
2068	119540	Disease	p.Asp681Asn	VAR_017293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017293	- Cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) [MIM:610756]	SWISS	180	smart00491	15834617,NP_000391
2068	119540	Disease	p.Asp681Asn	VAR_017293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017293	- Cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) [MIM:610756]	SWISS	152	smart00492	15834617,NP_000391
2068	119540	Disease	p.Asp681Asn	VAR_017293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017293	- Cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) [MIM:610756]	SWISS	1015	COG1199	15834617,NP_000391
2068	119540	Disease	p.Asp681Asn	VAR_017293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017293	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	180	smart00491	15834617,NP_000391
2068	119540	Disease	p.Asp681Asn	VAR_017293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017293	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	152	smart00492	15834617,NP_000391
2068	119540	Disease	p.Asp681Asn	VAR_017293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017293	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	1015	COG1199	15834617,NP_000391
2068	119540	Disease	p.Arg683Gln	VAR_008197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008197	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	182	smart00491	15834617,NP_000391
2068	119540	Disease	p.Arg683Gln	VAR_008197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008197	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	154	smart00492	15834617,NP_000391
2068	119540	Disease	p.Arg683Gln	VAR_008197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008197	- Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	1017	COG1199	15834617,NP_000391
2068	119540	Disease	p.Arg683Trp	VAR_008198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008198	rs41556519 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	182	smart00491	15834617,NP_000391
2068	119540	Disease	p.Arg683Trp	VAR_008198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008198	rs41556519 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	154	smart00492	15834617,NP_000391
2068	119540	Disease	p.Arg683Trp	VAR_008198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008198	rs41556519 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]	SWISS	1017	COG1199	15834617,NP_000391
2068	119540	Disease	p.Gly713Arg	VAR_008199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008199	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	1064	COG1199	15834617,NP_000391
2068	119540	Disease	p.Arg722Trp	VAR_003630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003630	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	No Domain	N/A	15834617,NP_000391
2068	119540	Disease	p.Ala725Pro	VAR_003631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003631	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	No Domain	N/A	15834617,NP_000391
2071	119541	Disease	p.Phe99Ser	VAR_003632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003632	- Xeroderma pigmentosum complementation group B (XP-B) [MIM:610651]	SWISS	No Domain	N/A	4557563,NP_000113
2071	119541	Disease	p.Thr119Pro	VAR_008186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008186	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	No Domain	N/A	4557563,NP_000113
2072	229463004	Disease	p.Arg153Pro	VAR_034802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034802	- XFE progeroid syndrome (XFEPS) [MIM:610965]	SWISS	No Domain	N/A	4885217,NP_005227
2072	229463004	Disease	p.Ile225Met	VAR_008200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008200	- Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]	SWISS	No Domain	N/A	4885217,NP_005227
2072	229463004	Disease	p.Arg454Trp	VAR_008201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008201	- Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]	SWISS	No Domain	N/A	4885217,NP_005227
2072	229463004	Disease	p.Arg490Gln	VAR_008202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008202	- Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]	SWISS	No Domain	N/A	4885217,NP_005227
2072	229463004	Disease	p.Glu502Lys	VAR_008203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008203	- Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]	SWISS	No Domain	N/A	4885217,NP_005227
2072	229463004	Disease	p.Gly513Arg	VAR_008204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008204	- Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]	SWISS	No Domain	N/A	4885217,NP_005227
2072	229463004	Disease	p.Ile529Thr	VAR_008205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008205	- Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]	SWISS	No Domain	N/A	4885217,NP_005227
2072	229463004	Disease	p.Thr567Ala	VAR_008206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008206	- Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]	SWISS	No Domain	N/A	4885217,NP_005227
2072	229463004	Disease	p.Leu608Pro	VAR_013398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013398	- Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]	SWISS	No Domain	N/A	4885217,NP_005227
2072	229463004	Disease	p.Arg799Trp	VAR_005850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005850	- Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]	SWISS	193	COG1948	4885217,NP_005227
2073	205371791	Disease	p.Pro72His	VAR_015280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015280	- Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]	SWISS	125	cd00128	NULL
2073	205371791	Disease	p.Pro72His	VAR_015280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015280	- Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]	SWISS	147	smart00485	NULL
2073	205371791	Disease	p.Pro72His	VAR_015280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015280	- Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]	SWISS	83	pfam00752	NULL
2073	205371791	Disease	p.Ala792Val	VAR_007733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007733	- Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]	SWISS	1264	cd00128	NULL
2073	205371791	Disease	p.Ala792Val	VAR_007733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007733	- Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]	SWISS	19	pfam00867	NULL
2073	205371791	Disease	p.Ala792Val	VAR_007733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007733	- Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]	SWISS	18	smart00484	NULL
2073	205371791	Disease	p.Ala792Val	VAR_007733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007733	- Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]	SWISS	189	COG0258	NULL
2073	205371791	Disease	p.Leu858Pro	VAR_017097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017097	- Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]	SWISS	1368	cd00128	NULL
2073	205371791	Disease	p.Leu858Pro	VAR_017097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017097	- Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]	SWISS	11	smart00279	NULL
2073	205371791	Disease	p.Leu858Pro	VAR_017097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017097	- Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]	SWISS	236	pfam00867	NULL
2073	205371791	Disease	p.Leu858Pro	VAR_017097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017097	- Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]	SWISS	280	COG0258	NULL
2073	205371791	Disease	p.Leu858Pro	VAR_017097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017097	- Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]	SWISS	17	cd00080	NULL
2073	205371791	Disease	p.Ala874Thr	VAR_017096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017096	rs28929496 Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]	SWISS	1385	cd00128	NULL
2073	205371791	Disease	p.Ala874Thr	VAR_017096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017096	rs28929496 Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]	SWISS	30	smart00279	NULL
2073	205371791	Disease	p.Ala874Thr	VAR_017096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017096	rs28929496 Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]	SWISS	313	COG0258	NULL
2073	205371791	Disease	p.Ala874Thr	VAR_017096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017096	rs28929496 Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]	SWISS	52	cd00080	NULL
2074	416959	Disease	p.Arg670Trp	VAR_001218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001218	- Cockayne syndrome type B (CSB) [MIM:133540]	SWISS	303	pfam00176	4557565,NP_000115
2074	416959	Disease	p.Arg670Trp	VAR_001218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001218	- Cockayne syndrome type B (CSB) [MIM:133540]	SWISS	1197	smart00487	4557565,NP_000115
2074	416959	Disease	p.Arg670Trp	VAR_001218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001218	- Cockayne syndrome type B (CSB) [MIM:133540]	SWISS	477	cd00046	4557565,NP_000115
2074	416959	Disease	p.Arg670Trp	VAR_001218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001218	- Cockayne syndrome type B (CSB) [MIM:133540]	SWISS	831	COG0553	4557565,NP_000115
2074	416959	Disease	p.Asn680Asp	VAR_063511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063511	- Cockayne syndrome type B (CSB) [MIM:133540]	SWISS	313	pfam00176	4557565,NP_000115
2074	416959	Disease	p.Asn680Asp	VAR_063511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063511	- Cockayne syndrome type B (CSB) [MIM:133540]	SWISS	1218	smart00487	4557565,NP_000115
2074	416959	Disease	p.Asn680Asp	VAR_063511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063511	- Cockayne syndrome type B (CSB) [MIM:133540]	SWISS	853	COG0553	4557565,NP_000115
2074	416959	Disease	p.Trp686Cys	VAR_063512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063512	- Cockayne syndrome type B (CSB) [MIM:133540]	SWISS	319	pfam00176	4557565,NP_000115
2074	416959	Disease	p.Trp686Cys	VAR_063512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063512	- Cockayne syndrome type B (CSB) [MIM:133540]	SWISS	1224	smart00487	4557565,NP_000115
2074	416959	Disease	p.Trp686Cys	VAR_063512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063512	- Cockayne syndrome type B (CSB) [MIM:133540]	SWISS	859	COG0553	4557565,NP_000115
2074	416959	Disease	p.Ser687Leu	VAR_063513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063513	- Cockayne syndrome type B (CSB) [MIM:133540]	SWISS	320	pfam00176	4557565,NP_000115
2074	416959	Disease	p.Ser687Leu	VAR_063513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063513	- Cockayne syndrome type B (CSB) [MIM:133540]	SWISS	1225	smart00487	4557565,NP_000115
2074	416959	Disease	p.Ser687Leu	VAR_063513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063513	- Cockayne syndrome type B (CSB) [MIM:133540]	SWISS	860	COG0553	4557565,NP_000115
2074	416959	Disease	p.Trp851Arg	VAR_001219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001219	- Cockayne syndrome type B (CSB) [MIM:133540]	SWISS	35	cd00079	4557565,NP_000115
2074	416959	Disease	p.Trp851Arg	VAR_001219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001219	- Cockayne syndrome type B (CSB) [MIM:133540]	SWISS	1262	COG0553	4557565,NP_000115
2074	416959	Disease	p.Leu871Pro	VAR_063514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063514	- Cerebro-oculo-facio-skeletal syndrome type 1 (COFS1) [MIM:214150]	SWISS	94	cd00079	4557565,NP_000115
2074	416959	Disease	p.Leu871Pro	VAR_063514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063514	- Cerebro-oculo-facio-skeletal syndrome type 1 (COFS1) [MIM:214150]	SWISS	3	smart00490	4557565,NP_000115
2074	416959	Disease	p.Leu871Pro	VAR_063514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063514	- Cerebro-oculo-facio-skeletal syndrome type 1 (COFS1) [MIM:214150]	SWISS	1370	COG0553	4557565,NP_000115
2074	416959	Disease	p.Val957Gly	VAR_001220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001220	- Cockayne syndrome type B (CSB) [MIM:133540]	SWISS	250	cd00079	4557565,NP_000115
2074	416959	Disease	p.Val957Gly	VAR_001220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001220	- Cockayne syndrome type B (CSB) [MIM:133540]	SWISS	1483	COG0553	4557565,NP_000115
2074	416959	Disease	p.Leu987Pro	VAR_063515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063515	- Cerebro-oculo-facio-skeletal syndrome type 1 (COFS1) [MIM:214150]	SWISS	1513	COG0553	4557565,NP_000115
2074	416959	Disease	p.Pro1042Leu	VAR_001221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001221	- Cockayne syndrome type B (CSB) [MIM:133540]	SWISS	No Domain	N/A	4557565,NP_000115
1161	3121917	Disease	p.Ala160Thr	VAR_063507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063507	- Cockayne syndrome type A (CSA) [MIM:216400]	SWISS	298	cd00200	4557467,NP_000073
1161	3121917	Disease	p.Ala160Val	VAR_025380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025380	- Cockayne syndrome type A (CSA) [MIM:216400]	SWISS	298	cd00200	4557467,NP_000073
1161	3121917	Disease	p.Trp194Cys	VAR_063508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063508	- Cockayne syndrome type A (CSA) [MIM:216400]	SWISS	392	cd00200	4557467,NP_000073
1161	3121917	Disease	p.Trp194Cys	VAR_063508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063508	- Cockayne syndrome type A (CSA) [MIM:216400]	SWISS	48	smart00320	4557467,NP_000073
1161	3121917	Disease	p.Trp194Cys	VAR_063508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063508	- Cockayne syndrome type A (CSA) [MIM:216400]	SWISS	20	pfam00400	4557467,NP_000073
1161	3121917	Disease	p.Leu202Ser	VAR_063509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063509	- Cockayne syndrome type A (CSA) [MIM:216400]	SWISS	427	cd00200	4557467,NP_000073
1161	3121917	Disease	p.Leu202Ser	VAR_063509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063509	- Cockayne syndrome type A (CSA) [MIM:216400]	SWISS	97	smart00320	4557467,NP_000073
1161	3121917	Disease	p.Leu202Ser	VAR_063509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063509	- Cockayne syndrome type A (CSA) [MIM:216400]	SWISS	51	pfam00400	4557467,NP_000073
1161	3121917	Disease	p.Ala205Pro	VAR_025381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025381	- Cockayne syndrome type A (CSA) [MIM:216400]	SWISS	430	cd00200	4557467,NP_000073
1161	3121917	Disease	p.Ala205Pro	VAR_025381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025381	- Cockayne syndrome type A (CSA) [MIM:216400]	SWISS	100	smart00320	4557467,NP_000073
1161	3121917	Disease	p.Ala205Pro	VAR_025381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025381	- Cockayne syndrome type A (CSA) [MIM:216400]	SWISS	54	pfam00400	4557467,NP_000073
1161	3121917	Disease	p.Asp266Gly	VAR_063510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063510	- Cockayne syndrome type A (CSA) [MIM:216400]	SWISS	589	cd00200	4557467,NP_000073
1161	3121917	Disease	p.Asp266Gly	VAR_063510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063510	- Cockayne syndrome type A (CSA) [MIM:216400]	SWISS	105	smart00320	4557467,NP_000073
1161	3121917	Disease	p.Asp266Gly	VAR_063510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063510	- Cockayne syndrome type A (CSA) [MIM:216400]	SWISS	59	pfam00400	4557467,NP_000073
157570	67460434	Disease	p.Trp539Gly	VAR_022649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022649	- Roberts syndrome (RBS) [MIM:268300]	SWISS	No Domain	N/A	62899035,NP_001017420
83715	189037868	Disease	p.Ser719Arg	VAR_043453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043453	- Deafness autosomal dominant without vestibular involvement (DFNAWVI) [MIM:606351]	SWISS	No Domain	N/A	110431370,NP_113663
83715	189037868	Disease	p.Asp744Asn	VAR_043454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043454	- Deafness autosomal dominant without vestibular involvement (DFNAWVI) [MIM:606351]	SWISS	No Domain	N/A	110431370,NP_113663
83715	189037868	Disease	p.Arg774Gln	VAR_043455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043455	- Deafness autosomal dominant without vestibular involvement (DFNAWVI) [MIM:606351]	SWISS	No Domain	N/A	110431370,NP_113663
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	9	cd06959	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	9	cd06965	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	9	cd06961	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	9	cd07162	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	11	smart00399	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	12	cd07172	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	11	cd07161	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	11	cd06962	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	28	cd07160	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	16	cd06970	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	16	cd07168	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	8	cd06957	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	8	cd07179	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	8	cd07165	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	8	cd07164	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	8	cd06916	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	8	cd07154	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	8	cd07158	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	8	cd07156	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	8	cd06960	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	8	cd07155	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	8	cd06963	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	8	cd06958	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	8	cd07167	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	17	cd07163	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	15	cd06968	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	16	cd07169	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	14	cd06964	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	14	cd07170	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	16	cd06955	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	13	cd07171	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	13	cd07173	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	13	cd07166	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	13	cd06967	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	10	pfam00105	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	10	cd06966	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	10	cd06956	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	10	cd06969	NULL
2103	13626133	Disease	p.Ala110Val	VAR_043503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043503	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	10	cd07157	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	140	cd06939	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	108	cd06941	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	119	cd06929	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	125	cd07072	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	110	cd06157	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	152	cd06943	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	187	cd06933	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	112	cd06930	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	167	cd06953	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	111	cd06952	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	98	cd06940	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	114	pfam00104	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	144	cd06935	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	131	cd06949	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	151	cd06945	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	123	cd06948	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	122	cd07348	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	129	cd06938	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	149	cd06946	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	158	cd07068	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	112	cd07073	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	119	cd06931	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	135	cd07350	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	168	cd06936	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	118	cd06951	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	122	cd07071	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	174	cd06954	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	113	cd06950	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	112	cd07076	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	123	cd06937	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	112	cd06947	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	112	cd07074	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	112	cd07075	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	127	cd07069	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	218	cd06934	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	129	cd06944	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	126	cd07070	NULL
2103	13626133	Disease	p.Leu320Pro	VAR_043504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043504	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	653	smart00430	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	162	cd06939	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	130	cd06941	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	144	cd06929	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	147	cd07072	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	132	cd06157	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	175	cd06943	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	209	cd06933	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	135	cd06930	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	189	cd06953	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	133	cd06952	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	120	cd06940	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	165	pfam00104	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	166	cd06935	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	153	cd06949	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	177	cd06945	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	145	cd06948	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	144	cd07348	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	151	cd06938	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	171	cd06946	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	180	cd07068	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	134	cd07073	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	145	cd06931	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	156	cd07350	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	190	cd06936	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	150	cd06951	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	144	cd07071	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	196	cd06954	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	135	cd06950	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	134	cd07076	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	145	cd06937	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	134	cd06947	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	134	cd07074	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	134	cd07075	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	149	cd07069	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	237	cd06934	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	151	cd06944	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	148	cd07070	NULL
2103	13626133	Disease	p.Val342Leu	VAR_043505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043505	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	704	smart00430	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	167	cd06939	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	135	cd06941	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	149	cd06929	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	152	cd07072	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	137	cd06157	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	180	cd06943	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	214	cd06933	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	140	cd06930	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	194	cd06953	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	138	cd06952	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	125	cd06940	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	170	pfam00104	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	171	cd06935	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	158	cd06949	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	182	cd06945	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	150	cd06948	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	149	cd07348	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	156	cd06938	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	176	cd06946	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	185	cd07068	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	139	cd07073	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	150	cd06931	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	161	cd07350	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	195	cd06936	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	155	cd06951	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	149	cd07071	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	201	cd06954	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	140	cd06950	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	139	cd07076	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	150	cd06937	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	139	cd06947	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	139	cd07074	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	139	cd07075	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	154	cd07069	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	242	cd06934	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	156	cd06944	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	153	cd07070	NULL
2103	13626133	Disease	p.Leu347Pro	VAR_043506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043506	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	709	smart00430	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	213	cd06939	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	181	cd06941	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	217	cd06929	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	196	cd07072	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	194	cd06157	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	222	cd06943	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	255	cd06933	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	215	cd06930	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	254	cd06953	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	213	cd06952	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	167	cd06940	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	315	pfam00104	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	240	cd06935	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	211	cd06949	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	229	cd06945	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	195	cd06948	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	194	cd07348	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	201	cd06938	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	223	cd06946	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	240	cd07068	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	181	cd07073	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	194	cd06931	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	203	cd07350	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	237	cd06936	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	197	cd06951	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	192	cd07071	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	243	cd06954	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	201	cd06950	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	181	cd07076	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	192	cd06937	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	186	cd06947	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	181	cd07074	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	186	cd07075	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	196	cd07069	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	314	cd06934	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	202	cd06944	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	195	cd07070	NULL
2103	13626133	Disease	p.Thr389Met	VAR_043508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043508	- Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]	SWISS	870	smart00430	NULL
2108	119636	Disease	p.Gly116Arg	VAR_002366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002366	- Glutaric aciduria type 2A (GA2A) [MIM:231680]	SWISS	113	cd01715	4503607,NP_000117
2108	119636	Disease	p.Gly116Arg	VAR_002366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002366	- Glutaric aciduria type 2A (GA2A) [MIM:231680]	SWISS	151	cd01985	4503607,NP_000117
2108	119636	Disease	p.Gly116Arg	VAR_002366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002366	- Glutaric aciduria type 2A (GA2A) [MIM:231680]	SWISS	197	pfam01012	4503607,NP_000117
2108	119636	Disease	p.Gly116Arg	VAR_002366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002366	- Glutaric aciduria type 2A (GA2A) [MIM:231680]	SWISS	166	COG2025	4503607,NP_000117
2108	119636	Disease	p.Val157Gly	VAR_002367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002367	- Glutaric aciduria type 2A (GA2A) [MIM:231680]	SWISS	173	cd01715	4503607,NP_000117
2108	119636	Disease	p.Val157Gly	VAR_002367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002367	- Glutaric aciduria type 2A (GA2A) [MIM:231680]	SWISS	214	cd01985	4503607,NP_000117
2108	119636	Disease	p.Val157Gly	VAR_002367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002367	- Glutaric aciduria type 2A (GA2A) [MIM:231680]	SWISS	310	pfam01012	4503607,NP_000117
2108	119636	Disease	p.Val157Gly	VAR_002367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002367	- Glutaric aciduria type 2A (GA2A) [MIM:231680]	SWISS	214	COG2025	4503607,NP_000117
2108	119636	Disease	p.Thr266Met	VAR_002368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002368	- Glutaric aciduria type 2A (GA2A) [MIM:231680]	SWISS	74	pfam00766	4503607,NP_000117
2108	119636	Disease	p.Thr266Met	VAR_002368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002368	- Glutaric aciduria type 2A (GA2A) [MIM:231680]	SWISS	334	COG2025	4503607,NP_000117
2109	585110	Disease	p.Asp128Asn	VAR_025804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025804	- Glutaric aciduria type 2B (GA2B) [MIM:231680]	SWISS	171	cd01984	4503609,NP_001976
2109	585110	Disease	p.Asp128Asn	VAR_025804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025804	- Glutaric aciduria type 2B (GA2B) [MIM:231680]	SWISS	143	COG2086	4503609,NP_001976
2109	585110	Disease	p.Asp128Asn	VAR_025804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025804	- Glutaric aciduria type 2B (GA2B) [MIM:231680]	SWISS	197	pfam01012	4503609,NP_001976
2109	585110	Disease	p.Asp128Asn	VAR_025804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025804	- Glutaric aciduria type 2B (GA2B) [MIM:231680]	SWISS	148	cd01985	4503609,NP_001976
2109	585110	Disease	p.Asp128Asn	VAR_025804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025804	- Glutaric aciduria type 2B (GA2B) [MIM:231680]	SWISS	149	cd01714	4503609,NP_001976
2109	585110	Disease	p.Arg164Gln	VAR_002369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002369	- Glutaric aciduria type 2B (GA2B) [MIM:231680]	SWISS	210	cd01984	4503609,NP_001976
2109	585110	Disease	p.Arg164Gln	VAR_002369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002369	- Glutaric aciduria type 2B (GA2B) [MIM:231680]	SWISS	183	COG2086	4503609,NP_001976
2109	585110	Disease	p.Arg164Gln	VAR_002369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002369	- Glutaric aciduria type 2B (GA2B) [MIM:231680]	SWISS	294	pfam01012	4503609,NP_001976
2109	585110	Disease	p.Arg164Gln	VAR_002369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002369	- Glutaric aciduria type 2B (GA2B) [MIM:231680]	SWISS	200	cd01985	4503609,NP_001976
2109	585110	Disease	p.Arg164Gln	VAR_002369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002369	- Glutaric aciduria type 2B (GA2B) [MIM:231680]	SWISS	189	cd01714	4503609,NP_001976
23474	73919341	Disease	p.Tyr38Cys	VAR_023395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023395	- Ethylmalonic encephalopathy (EE) [MIM:602473]	SWISS	48	COG0491	41327741,NP_055112
23474	73919341	Disease	p.Tyr38Cys	VAR_023395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023395	- Ethylmalonic encephalopathy (EE) [MIM:602473]	SWISS	9	smart00849	41327741,NP_055112
23474	73919341	Disease	p.Tyr38Cys	VAR_023395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023395	- Ethylmalonic encephalopathy (EE) [MIM:602473]	SWISS	9	pfam00753	41327741,NP_055112
23474	73919341	Disease	p.Thr136Ala	VAR_023396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023396	- Ethylmalonic encephalopathy (EE) [MIM:602473]	SWISS	261	COG0491	41327741,NP_055112
23474	73919341	Disease	p.Thr136Ala	VAR_023396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023396	- Ethylmalonic encephalopathy (EE) [MIM:602473]	SWISS	613	smart00849	41327741,NP_055112
23474	73919341	Disease	p.Thr136Ala	VAR_023396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023396	- Ethylmalonic encephalopathy (EE) [MIM:602473]	SWISS	211	pfam00753	41327741,NP_055112
23474	73919341	Disease	p.Arg163Trp	VAR_023397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023397	rs28940289 Ethylmalonic encephalopathy (EE) [MIM:602473]	SWISS	300	COG0491	41327741,NP_055112
23474	73919341	Disease	p.Arg163Trp	VAR_023397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023397	rs28940289 Ethylmalonic encephalopathy (EE) [MIM:602473]	SWISS	719	smart00849	41327741,NP_055112
23474	73919341	Disease	p.Arg163Trp	VAR_023397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023397	rs28940289 Ethylmalonic encephalopathy (EE) [MIM:602473]	SWISS	243	pfam00753	41327741,NP_055112
23474	73919341	Disease	p.Leu185Arg	VAR_023398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023398	- Ethylmalonic encephalopathy (EE) [MIM:602473]	SWISS	330	COG0491	41327741,NP_055112
23474	73919341	Disease	p.Leu185Arg	VAR_023398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023398	- Ethylmalonic encephalopathy (EE) [MIM:602473]	SWISS	801	smart00849	41327741,NP_055112
23474	73919341	Disease	p.Leu185Arg	VAR_023398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023398	- Ethylmalonic encephalopathy (EE) [MIM:602473]	SWISS	323	pfam00753	41327741,NP_055112
2121	12229783	Disease	p.Ser307Pro	VAR_009944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009944	- Acrofacial dysostosis Weyers type (WAD) [MIM:193530]	SWISS	No Domain	N/A	24497531,NP_714928
2121	12229783	Disease	p.Arg443Gln	VAR_009946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009946	rs35953626 Ellis-van Creveld syndrome (EVC) [MIM:225500]	SWISS	No Domain	N/A	24497531,NP_714928
132884	38257827	Disease	p.Ile283Arg	VAR_017209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017209	- Ellis-van Creveld syndrome (EVC) [MIM:225500]	SWISS	64	pfam12297	93277096,NP_667338
132884	38257827	Disease	p.Arg950Trp	VAR_017211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017211	- Ellis-van Creveld syndrome (EVC) [MIM:225500]	SWISS	No Domain	N/A	93277096,NP_667338
2131	20141422	Disease	p.Gln27Lys	VAR_012815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012815	- Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]	SWISS	No Domain	N/A	46370066,NP_000118
2131	20141422	Disease	p.Asp164His	VAR_012816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012816	- Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]	SWISS	143	pfam03016	46370066,NP_000118
2131	20141422	Disease	p.Arg280Gly	VAR_002370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002370	- Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]	SWISS	371	pfam03016	46370066,NP_000118
2131	20141422	Disease	p.Arg280Ser	VAR_002371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002371	- Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]	SWISS	371	pfam03016	46370066,NP_000118
2131	20141422	Disease	p.Gly339Asp	VAR_002372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002372	- Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]	SWISS	478	pfam03016	46370066,NP_000118
2131	20141422	Disease	p.Arg340Cys	VAR_002373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002373	- Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]	SWISS	479	pfam03016	46370066,NP_000118
2131	20141422	Disease	p.Arg340His	VAR_002374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002374	- Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]	SWISS	479	pfam03016	46370066,NP_000118
2131	20141422	Disease	p.Arg340Leu	VAR_002375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002375	- Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]	SWISS	479	pfam03016	46370066,NP_000118
2131	20141422	Disease	p.Arg340Ser	VAR_002376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002376	- Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]	SWISS	479	pfam03016	46370066,NP_000118
2131	20141422	Disease	p.Ala486Val	VAR_012821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012821	- Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]	SWISS	7	pfam09258	46370066,NP_000118
2131	20141422	Disease	p.Pro496Leu	VAR_012822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012822	- Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]	SWISS	18	pfam09258	46370066,NP_000118
2132	3023739	Disease	p.Cys85Arg	VAR_012823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012823	- Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]	SWISS	No Domain	N/A	46370069,NP_997005
2132	3023739	Disease	p.Leu152Arg	VAR_012824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012824	- Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]	SWISS	112	pfam03016	46370069,NP_997005
2132	3023739	Disease	p.Arg179Ser	VAR_012825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012825	- Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]	SWISS	164	pfam03016	46370069,NP_997005
2132	3023739	Disease	p.Ala202Val	VAR_012826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012826	- Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]	SWISS	219	pfam03016	46370069,NP_997005
2132	3023739	Disease	p.Arg223Pro	VAR_012827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012827	- Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]	SWISS	260	pfam03016	46370069,NP_997005
2132	3023739	Disease	p.Asp227Asn	VAR_002378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002378	- Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]	SWISS	264	pfam03016	46370069,NP_997005
2132	3023739	Disease	p.Ile380Thr	VAR_012828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012828	- Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]	SWISS	No Domain	N/A	46370069,NP_997005
2138	3183005	Disease	p.Ser242Gly	VAR_044452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044452	- Branchiootic syndrome type 1 (BOS1) [MIM:602588]	SWISS	No Domain	N/A	26667216,NP_742055|19923100,NP_000494
2138	3183005	Disease	p.Gly426Ser	VAR_016865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016865	- Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]	SWISS	238	pfam00702	26667216,NP_742055|19923100,NP_000494
2138	3183005	Disease	p.Asp429Gly	VAR_016866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016866	- Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]	SWISS	241	pfam00702	26667216,NP_742055|19923100,NP_000494
2138	3183005	Disease	p.Arg440Gln	VAR_016867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016867	- Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]	SWISS	252	pfam00702	26667216,NP_742055|19923100,NP_000494
2138	3183005	Disease	p.Ser487Pro	VAR_005203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005203	- Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]	SWISS	302	pfam00702	26667216,NP_742055|19923100,NP_000494
2138	3183005	Disease	p.Leu505Arg	VAR_005204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005204	- Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]	SWISS	340	pfam00702	26667216,NP_742055|19923100,NP_000494
2138	3183005	Disease	p.Leu583Pro	VAR_016869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016869	- Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]	SWISS	No Domain	N/A	26667216,NP_742055|19923100,NP_000494
346007	226707571	Disease	p.Gly618Ser	VAR_063445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063445	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	No Domain	N/A	NULL
346007	226707571	Disease	p.Asn745Ser	VAR_063448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063448	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	28	smart00179	NULL
346007	226707571	Disease	p.Asn745Ser	VAR_063448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063448	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	33	cd00054	NULL
346007	226707571	Disease	p.Asn745Ser	VAR_063448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063448	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	25	cd00053	NULL
346007	226707571	Disease	p.Asn745Ser	VAR_063448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063448	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	20	smart00181	NULL
346007	226707571	Disease	p.Thr1110Ser	VAR_063451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063451	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	70	cd00054	NULL
346007	226707571	Disease	p.Thr1110Ser	VAR_063451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063451	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	64	smart00179	NULL
346007	226707571	Disease	p.Thr1110Ser	VAR_063451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063451	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	47	pfam00008	NULL
346007	226707571	Disease	p.Thr1110Ser	VAR_063451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063451	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	67	smart00181	NULL
346007	226707571	Disease	p.Thr1110Ser	VAR_063451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063451	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	66	cd00053	NULL
346007	226707571	Disease	p.Cys1176Arg	VAR_063453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063453	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	28	cd00053	NULL
346007	226707571	Disease	p.Cys1176Arg	VAR_063453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063453	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	27	smart00181	NULL
346007	226707571	Disease	p.Cys1176Arg	VAR_063453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063453	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	34	smart00179	NULL
346007	226707571	Disease	p.Cys1176Arg	VAR_063453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063453	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	36	cd00054	NULL
346007	226707571	Disease	p.Cys1176Arg	VAR_063453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063453	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	18	pfam00008	NULL
346007	226707571	Disease	p.Ile1232Phe	VAR_063454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063454	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	No Domain	N/A	NULL
346007	226707571	Disease	p.Asp1682Tyr	VAR_063465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063465	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	No Domain	N/A	NULL
346007	226707571	Disease	p.Glu1747Gly	VAR_063467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063467	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	No Domain	N/A	NULL
346007	226707571	Disease	p.Leu1869Met	VAR_063470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063470	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	No Domain	N/A	NULL
346007	226707571	Disease	p.Thr1987Pro	VAR_063474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063474	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	276	smart00282	NULL
346007	226707571	Disease	p.Thr1987Pro	VAR_063474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063474	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	169	cd00110	NULL
346007	226707571	Disease	p.Thr1987Pro	VAR_063474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063474	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	140	pfam02210	NULL
346007	226707571	Disease	p.Cys2139Tyr	VAR_063478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063478	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	82	smart00181	NULL
346007	226707571	Disease	p.Cys2139Tyr	VAR_063478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063478	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	85	cd00053	NULL
346007	226707571	Disease	p.Leu2189Pro	VAR_063480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063480	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	11	pfam00054	NULL
346007	226707571	Disease	p.Leu2189Pro	VAR_063480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063480	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	14	pfam02210	NULL
346007	226707571	Disease	p.Leu2189Pro	VAR_063480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063480	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	58	cd00110	NULL
346007	226707571	Disease	p.Leu2189Pro	VAR_063480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063480	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	43	smart00282	NULL
346007	226707571	Disease	p.Ala2829Thr	VAR_063486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063486	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	187	cd00110	NULL
346007	226707571	Disease	p.Ala2829Thr	VAR_063486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063486	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	344	smart00282	NULL
346007	226707571	Disease	p.Ala2829Thr	VAR_063486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063486	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	122	pfam00054	NULL
346007	226707571	Disease	p.Ala2829Thr	VAR_063486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063486	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	155	pfam02210	NULL
346007	226707571	Disease	p.Cys2911Tyr	VAR_063488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063488	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	28	cd00053	NULL
346007	226707571	Disease	p.Gly2928Glu	VAR_063489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063489	- Retinitis pigmentosa type 25 (RP25) [MIM:602772]	SWISS	67	cd00053	NULL
2160	119762	Disease	p.Asp34His	VAR_012085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012085	- F11 deficiency [MIM:612416]	SWISS	16	smart00223	4503627,NP_000119
2160	119762	Disease	p.Asp34His	VAR_012085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012085	- F11 deficiency [MIM:612416]	SWISS	27	pfam00024	4503627,NP_000119
2160	119762	Disease	p.Asp34His	VAR_012085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012085	- F11 deficiency [MIM:612416]	SWISS	21	cd01100	4503627,NP_000119
2160	119762	Disease	p.Cys46Phe	VAR_054894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054894	- F11 deficiency [MIM:612416]	SWISS	28	smart00223	4503627,NP_000119
2160	119762	Disease	p.Cys46Phe	VAR_054894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054894	- F11 deficiency [MIM:612416]	SWISS	40	pfam00024	4503627,NP_000119
2160	119762	Disease	p.Cys46Phe	VAR_054894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054894	- F11 deficiency [MIM:612416]	SWISS	36	cd01100	4503627,NP_000119
2160	119762	Disease	p.Cys56Arg	VAR_054895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054895	- F11 deficiency [MIM:612416]	SWISS	38	smart00223	4503627,NP_000119
2160	119762	Disease	p.Cys56Arg	VAR_054895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054895	- F11 deficiency [MIM:612416]	SWISS	64	pfam00024	4503627,NP_000119
2160	119762	Disease	p.Cys56Arg	VAR_054895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054895	- F11 deficiency [MIM:612416]	SWISS	47	cd01100	4503627,NP_000119
2160	119762	Disease	p.Lys101Arg	VAR_054896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054896	- F11 deficiency [MIM:612416]	SWISS	99	smart00223	4503627,NP_000119
2160	119762	Disease	p.Tyr151Cys	VAR_054897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054897	- F11 deficiency [MIM:612416]	SWISS	52	cd01100	4503627,NP_000119
2160	119762	Disease	p.Tyr151Cys	VAR_054897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054897	- F11 deficiency [MIM:612416]	SWISS	69	pfam00024	4503627,NP_000119
2160	119762	Disease	p.Tyr151Cys	VAR_054897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054897	- F11 deficiency [MIM:612416]	SWISS	43	smart00223	4503627,NP_000119
2160	119762	Disease	p.Gln244Arg	VAR_011775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011775	rs5969 F11 deficiency [MIM:612416]	SWISS	46	smart00223	4503627,NP_000119
2160	119762	Disease	p.Gln244Arg	VAR_011775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011775	rs5969 F11 deficiency [MIM:612416]	SWISS	72	pfam00024	4503627,NP_000119
2160	119762	Disease	p.Gln244Arg	VAR_011775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011775	rs5969 F11 deficiency [MIM:612416]	SWISS	55	cd01100	4503627,NP_000119
2160	119762	Disease	p.Trp246Cys	VAR_012086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012086	- F11 deficiency [MIM:612416]	SWISS	48	smart00223	4503627,NP_000119
2160	119762	Disease	p.Trp246Cys	VAR_012086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012086	- F11 deficiency [MIM:612416]	SWISS	74	pfam00024	4503627,NP_000119
2160	119762	Disease	p.Trp246Cys	VAR_012086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012086	- F11 deficiency [MIM:612416]	SWISS	57	cd01100	4503627,NP_000119
2160	119762	Disease	p.Cys255Tyr	VAR_054898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054898	- F11 deficiency [MIM:612416]	SWISS	71	smart00223	4503627,NP_000119
2160	119762	Disease	p.Cys255Tyr	VAR_054898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054898	- F11 deficiency [MIM:612416]	SWISS	97	pfam00024	4503627,NP_000119
2160	119762	Disease	p.Cys255Tyr	VAR_054898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054898	- F11 deficiency [MIM:612416]	SWISS	67	cd01100	4503627,NP_000119
2160	119762	Disease	p.Gly263Glu	VAR_054899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054899	- F11 deficiency [MIM:612416]	SWISS	79	smart00223	4503627,NP_000119
2160	119762	Disease	p.Gly263Glu	VAR_054899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054899	- F11 deficiency [MIM:612416]	SWISS	105	pfam00024	4503627,NP_000119
2160	119762	Disease	p.Gly263Glu	VAR_054899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054899	- F11 deficiency [MIM:612416]	SWISS	76	cd01100	4503627,NP_000119
2160	119762	Disease	p.Ser266Asn	VAR_012087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012087	- F11 deficiency [MIM:612416]	SWISS	82	smart00223	4503627,NP_000119
2160	119762	Disease	p.Ser266Asn	VAR_012087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012087	- F11 deficiency [MIM:612416]	SWISS	129	pfam00024	4503627,NP_000119
2160	119762	Disease	p.Ser266Asn	VAR_012087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012087	- F11 deficiency [MIM:612416]	SWISS	79	cd01100	4503627,NP_000119
2160	119762	Disease	p.Lys270Ile	VAR_054900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054900	- F11 deficiency [MIM:612416]	SWISS	86	smart00223	4503627,NP_000119
2160	119762	Disease	p.Lys270Ile	VAR_054900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054900	- F11 deficiency [MIM:612416]	SWISS	133	pfam00024	4503627,NP_000119
2160	119762	Disease	p.Lys270Ile	VAR_054900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054900	- F11 deficiency [MIM:612416]	SWISS	83	cd01100	4503627,NP_000119
2160	119762	Disease	p.Phe301Leu	VAR_006622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006622	- F11 deficiency [MIM:612416]	SWISS	17	pfam00024	4503627,NP_000119
2160	119762	Disease	p.Phe301Leu	VAR_006622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006622	- F11 deficiency [MIM:612416]	SWISS	12	smart00223	4503627,NP_000119
2160	119762	Disease	p.Phe301Leu	VAR_006622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006622	- F11 deficiency [MIM:612416]	SWISS	15	cd01100	4503627,NP_000119
2160	119762	Disease	p.Leu320Pro	VAR_012088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012088	- F11 deficiency [MIM:612416]	SWISS	43	pfam00024	4503627,NP_000119
2160	119762	Disease	p.Leu320Pro	VAR_012088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012088	- F11 deficiency [MIM:612416]	SWISS	31	smart00223	4503627,NP_000119
2160	119762	Disease	p.Leu320Pro	VAR_012088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012088	- F11 deficiency [MIM:612416]	SWISS	39	cd01100	4503627,NP_000119
2160	119762	Disease	p.Thr322Ile	VAR_012089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012089	- F11 deficiency [MIM:612416]	SWISS	45	pfam00024	4503627,NP_000119
2160	119762	Disease	p.Thr322Ile	VAR_012089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012089	- F11 deficiency [MIM:612416]	SWISS	33	smart00223	4503627,NP_000119
2160	119762	Disease	p.Thr322Ile	VAR_012089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012089	- F11 deficiency [MIM:612416]	SWISS	41	cd01100	4503627,NP_000119
2160	119762	Disease	p.Arg326Cys	VAR_012090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012090	rs28934608 F11 deficiency [MIM:612416]	SWISS	54	pfam00024	4503627,NP_000119
2160	119762	Disease	p.Arg326Cys	VAR_012090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012090	rs28934608 F11 deficiency [MIM:612416]	SWISS	37	smart00223	4503627,NP_000119
2160	119762	Disease	p.Arg326Cys	VAR_012090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012090	rs28934608 F11 deficiency [MIM:612416]	SWISS	46	cd01100	4503627,NP_000119
2160	119762	Disease	p.Glu341Lys	VAR_012091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012091	- F11 deficiency [MIM:612416]	SWISS	92	pfam00024	4503627,NP_000119
2160	119762	Disease	p.Glu341Lys	VAR_012091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012091	- F11 deficiency [MIM:612416]	SWISS	60	smart00223	4503627,NP_000119
2160	119762	Disease	p.Glu341Lys	VAR_012091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012091	- F11 deficiency [MIM:612416]	SWISS	62	cd01100	4503627,NP_000119
2160	119762	Disease	p.Thr404Asn	VAR_012092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012092	- F11 deficiency [MIM:612416]	SWISS	24	smart00020	4503627,NP_000119
2160	119762	Disease	p.Thr404Asn	VAR_012092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012092	- F11 deficiency [MIM:612416]	SWISS	21	cd00190	4503627,NP_000119
2160	119762	Disease	p.Thr404Asn	VAR_012092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012092	- F11 deficiency [MIM:612416]	SWISS	21	pfam00089	4503627,NP_000119
2160	119762	Disease	p.Gly418Val	VAR_054901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054901	- F11 deficiency [MIM:612416]	SWISS	52	smart00020	4503627,NP_000119
2160	119762	Disease	p.Gly418Val	VAR_054901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054901	- F11 deficiency [MIM:612416]	SWISS	46	cd00190	4503627,NP_000119
2160	119762	Disease	p.Gly418Val	VAR_054901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054901	- F11 deficiency [MIM:612416]	SWISS	41	pfam00089	4503627,NP_000119
2160	119762	Disease	p.Ala430Val	VAR_012093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012093	rs28934901 F11 deficiency [MIM:612416]	SWISS	65	smart00020	4503627,NP_000119
2160	119762	Disease	p.Ala430Val	VAR_012093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012093	rs28934901 F11 deficiency [MIM:612416]	SWISS	59	cd00190	4503627,NP_000119
2160	119762	Disease	p.Ala430Val	VAR_012093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012093	rs28934901 F11 deficiency [MIM:612416]	SWISS	56	pfam00089	4503627,NP_000119
2160	119762	Disease	p.Phe460Val	VAR_012094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012094	- F11 deficiency [MIM:612416]	SWISS	173	smart00020	4503627,NP_000119
2160	119762	Disease	p.Phe460Val	VAR_012094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012094	- F11 deficiency [MIM:612416]	SWISS	117	cd00190	4503627,NP_000119
2160	119762	Disease	p.Phe460Val	VAR_012094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012094	- F11 deficiency [MIM:612416]	SWISS	110	pfam00089	4503627,NP_000119
2160	119762	Disease	p.Thr493Ile	VAR_012095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012095	- F11 deficiency [MIM:612416]	SWISS	285	smart00020	4503627,NP_000119
2160	119762	Disease	p.Thr493Ile	VAR_012095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012095	- F11 deficiency [MIM:612416]	SWISS	167	cd00190	4503627,NP_000119
2160	119762	Disease	p.Thr493Ile	VAR_012095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012095	- F11 deficiency [MIM:612416]	SWISS	164	pfam00089	4503627,NP_000119
2160	119762	Disease	p.Tyr511His	VAR_054902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054902	- F11 deficiency [MIM:612416]	SWISS	346	smart00020	4503627,NP_000119
2160	119762	Disease	p.Tyr511His	VAR_054902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054902	- F11 deficiency [MIM:612416]	SWISS	219	cd00190	4503627,NP_000119
2160	119762	Disease	p.Tyr511His	VAR_054902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054902	- F11 deficiency [MIM:612416]	SWISS	187	pfam00089	4503627,NP_000119
2160	119762	Disease	p.Pro538Leu	VAR_054903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054903	- F11 deficiency [MIM:612416]	SWISS	401	smart00020	4503627,NP_000119
2160	119762	Disease	p.Pro538Leu	VAR_054903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054903	- F11 deficiency [MIM:612416]	SWISS	265	cd00190	4503627,NP_000119
2160	119762	Disease	p.Pro538Leu	VAR_054903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054903	- F11 deficiency [MIM:612416]	SWISS	223	pfam00089	4503627,NP_000119
2160	119762	Disease	p.Glu565Lys	VAR_054904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054904	- F11 deficiency [MIM:612416]	SWISS	469	smart00020	4503627,NP_000119
2160	119762	Disease	p.Glu565Lys	VAR_054904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054904	- F11 deficiency [MIM:612416]	SWISS	315	cd00190	4503627,NP_000119
2160	119762	Disease	p.Glu565Lys	VAR_054904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054904	- F11 deficiency [MIM:612416]	SWISS	274	pfam00089	4503627,NP_000119
2160	119762	Disease	p.Trp587Ser	VAR_054905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054905	- F11 deficiency [MIM:612416]	SWISS	522	smart00020	4503627,NP_000119
2160	119762	Disease	p.Trp587Ser	VAR_054905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054905	- F11 deficiency [MIM:612416]	SWISS	370	cd00190	4503627,NP_000119
2160	119762	Disease	p.Trp587Ser	VAR_054905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054905	- F11 deficiency [MIM:612416]	SWISS	301	pfam00089	4503627,NP_000119
2160	119762	Disease	p.Ser594Arg	VAR_012096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012096	rs28934609 F11 deficiency [MIM:612416]	SWISS	529	smart00020	4503627,NP_000119
2160	119762	Disease	p.Ser594Arg	VAR_012096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012096	rs28934609 F11 deficiency [MIM:612416]	SWISS	377	cd00190	4503627,NP_000119
2160	119762	Disease	p.Ser594Arg	VAR_012096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012096	rs28934609 F11 deficiency [MIM:612416]	SWISS	308	pfam00089	4503627,NP_000119
2160	119762	Disease	p.Ile618Ser	VAR_054906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054906	- F11 deficiency [MIM:612416]	SWISS	423	cd00190	4503627,NP_000119
2161	119763	Disease	p.Tyr53Cys	VAR_014426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014426	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	14	smart00059	NULL
2161	119763	Disease	p.Tyr53Cys	VAR_014426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014426	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	13	cd00062	NULL
2161	119763	Disease	p.Tyr53Cys	VAR_014426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014426	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	7	pfam00040	NULL
2161	119763	Disease	p.Arg142Pro	VAR_031500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031500	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	8	pfam00039	NULL
2161	119763	Disease	p.Arg142Pro	VAR_031500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031500	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	8	smart00058	NULL
2161	119763	Disease	p.Arg142Pro	VAR_031500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031500	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	10	cd00061	NULL
2161	119763	Disease	p.Thr328Lys	VAR_031501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031501	- Hereditary angioedema type 3 (HAE3) [MIM:610618]	SWISS	No Domain	N/A	NULL
2161	119763	Disease	p.Thr328Arg	VAR_031502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031502	- Hereditary angioedema type 3 (HAE3) [MIM:610618]	SWISS	No Domain	N/A	NULL
2161	119763	Disease	p.Arg372Pro	VAR_006623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006623	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	No Domain	N/A	NULL
2161	119763	Disease	p.Ala411Thr	VAR_031503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031503	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	59	cd00190	NULL
2161	119763	Disease	p.Ala411Thr	VAR_031503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031503	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	56	pfam00089	NULL
2161	119763	Disease	p.Ala411Thr	VAR_031503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031503	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	65	smart00020	NULL
2161	119763	Disease	p.Leu414Met	VAR_031504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031504	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	62	cd00190	NULL
2161	119763	Disease	p.Leu414Met	VAR_031504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031504	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	59	pfam00089	NULL
2161	119763	Disease	p.Leu414Met	VAR_031504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031504	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	68	smart00020	NULL
2161	119763	Disease	p.Arg417Gln	VAR_031505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031505	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	65	cd00190	NULL
2161	119763	Disease	p.Arg417Gln	VAR_031505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031505	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	62	pfam00089	NULL
2161	119763	Disease	p.Arg417Gln	VAR_031505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031505	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	75	smart00020	NULL
2161	119763	Disease	p.Gln440Lys	VAR_031506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031506	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	116	cd00190	NULL
2161	119763	Disease	p.Gln440Lys	VAR_031506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031506	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	109	pfam00089	NULL
2161	119763	Disease	p.Gln440Lys	VAR_031506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031506	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	172	smart00020	NULL
2161	119763	Disease	p.Asp461Asn	VAR_031507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031507	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	150	cd00190	NULL
2161	119763	Disease	p.Asp461Asn	VAR_031507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031507	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	143	pfam00089	NULL
2161	119763	Disease	p.Asp461Asn	VAR_031507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031507	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	250	smart00020	NULL
2161	119763	Disease	p.Trp505Cys	VAR_031508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031508	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	227	cd00190	NULL
2161	119763	Disease	p.Trp505Cys	VAR_031508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031508	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	195	pfam00089	NULL
2161	119763	Disease	p.Trp505Cys	VAR_031508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031508	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	360	smart00020	NULL
2161	119763	Disease	p.Gly589Arg	VAR_031509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031509	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	381	cd00190	NULL
2161	119763	Disease	p.Gly589Arg	VAR_031509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031509	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	318	pfam00089	NULL
2161	119763	Disease	p.Gly589Arg	VAR_031509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031509	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	541	smart00020	NULL
2161	119763	Disease	p.Cys590Ser	VAR_006624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006624	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	388	cd00190	NULL
2161	119763	Disease	p.Cys590Ser	VAR_006624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006624	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	319	pfam00089	NULL
2161	119763	Disease	p.Cys590Ser	VAR_006624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006624	- Factor XII deficiency (FA12D) [MIM:234000]	SWISS	542	smart00020	NULL
2162	119720	Disease	p.Arg682His	VAR_007474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007474	- F13A deficiency [MIM:134570]	SWISS	62	pfam00927	NULL
2147	135807	Disease	p.Glu72Gly	VAR_055232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055232	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	53	smart00069	4503635,NP_000497
2147	135807	Disease	p.Glu72Gly	VAR_055232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055232	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	25	pfam00594	4503635,NP_000497
2147	135807	Disease	p.Glu200Lys	VAR_006711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006711	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	No Domain	N/A	4503635,NP_000497
2147	135807	Disease	p.Arg314Cys	VAR_006712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006712	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	No Domain	N/A	4503635,NP_000497
2147	135807	Disease	p.Arg314His	VAR_006713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006713	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	No Domain	N/A	4503635,NP_000497
2147	135807	Disease	p.Met380Thr	VAR_006714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006714	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	24	smart00020	4503635,NP_000497
2147	135807	Disease	p.Met380Thr	VAR_006714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006714	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	21	pfam00089	4503635,NP_000497
2147	135807	Disease	p.Met380Thr	VAR_006714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006714	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	21	cd00190	4503635,NP_000497
2147	135807	Disease	p.Arg425Cys	VAR_006715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006715	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	100	smart00020	4503635,NP_000497
2147	135807	Disease	p.Arg425Cys	VAR_006715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006715	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	89	pfam00089	4503635,NP_000497
2147	135807	Disease	p.Arg425Cys	VAR_006715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006715	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	89	cd00190	4503635,NP_000497
2147	135807	Disease	p.Arg431His	VAR_006716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006716	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	107	smart00020	4503635,NP_000497
2147	135807	Disease	p.Arg431His	VAR_006716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006716	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	96	pfam00089	4503635,NP_000497
2147	135807	Disease	p.Arg431His	VAR_006716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006716	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	95	cd00190	4503635,NP_000497
2147	135807	Disease	p.Arg461Trp	VAR_006717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006717	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	249	smart00020	4503635,NP_000497
2147	135807	Disease	p.Arg461Trp	VAR_006717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006717	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	142	pfam00089	4503635,NP_000497
2147	135807	Disease	p.Arg461Trp	VAR_006717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006717	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	149	cd00190	4503635,NP_000497
2147	135807	Disease	p.Glu509Ala	VAR_006718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006718	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	367	smart00020	4503635,NP_000497
2147	135807	Disease	p.Glu509Ala	VAR_006718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006718	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	200	pfam00089	4503635,NP_000497
2147	135807	Disease	p.Glu509Ala	VAR_006718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006718	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	232	cd00190	4503635,NP_000497
2147	135807	Disease	p.Gly601Val	VAR_006719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006719	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	561	smart00020	4503635,NP_000497
2147	135807	Disease	p.Gly601Val	VAR_006719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006719	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	330	pfam00089	4503635,NP_000497
2147	135807	Disease	p.Gly601Val	VAR_006719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006719	- Factor II deficiency (FA2D) [MIM:176930]	SWISS	409	cd00190	4503635,NP_000497
2153	308153653	Disease	p.Arg334Thr	VAR_013621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013621	- Thrombophilia due to activated protein C resistance (THR-APCR) [MIM:188055]	SWISS	No Domain	N/A	105990535,NP_000121
2153	308153653	Disease	p.Ile387Thr	VAR_032698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032698	- Thrombophilia due to activated protein C resistance (THR-APCR) [MIM:188055]	SWISS	No Domain	N/A	105990535,NP_000121
2153	308153653	Disease	p.Cys613Arg	VAR_032699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032699	- Thrombophilia due to activated protein C resistance (THR-APCR) [MIM:188055]	SWISS	No Domain	N/A	105990535,NP_000121
2153	308153653	Disease	p.Tyr1730Cys	VAR_032700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032700	- Factor V deficiency (FA5D) [MIM:227400]	SWISS	No Domain	N/A	105990535,NP_000121
2153	308153653	Disease	p.Arg2102Cys	VAR_032701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032701	- Factor V deficiency (FA5D) [MIM:227400]	SWISS	73	smart00231	105990535,NP_000121
2153	308153653	Disease	p.Arg2102Cys	VAR_032701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032701	- Factor V deficiency (FA5D) [MIM:227400]	SWISS	39	cd00057	105990535,NP_000121
2153	308153653	Disease	p.Arg2102Cys	VAR_032701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032701	- Factor V deficiency (FA5D) [MIM:227400]	SWISS	30	pfam00754	105990535,NP_000121
2153	308153653	Disease	p.Arg2102His	VAR_017329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017329	- Thrombophilia due to activated protein C resistance (THR-APCR) [MIM:188055]	SWISS	73	smart00231	105990535,NP_000121
2153	308153653	Disease	p.Arg2102His	VAR_017329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017329	- Thrombophilia due to activated protein C resistance (THR-APCR) [MIM:188055]	SWISS	39	cd00057	105990535,NP_000121
2153	308153653	Disease	p.Arg2102His	VAR_017329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017329	- Thrombophilia due to activated protein C resistance (THR-APCR) [MIM:188055]	SWISS	30	pfam00754	105990535,NP_000121
2157	119767	Disease	p.Ser19Arg	VAR_028447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028447	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg22Thr	VAR_028448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028448	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Tyr24Cys	VAR_028449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028449	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Tyr25Cys	VAR_028450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028450	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Leu26Pro	VAR_028451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028451	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Leu26Arg	VAR_001045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001045	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Glu30Val	VAR_001046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001046	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Trp33Gly	VAR_028452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028452	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Tyr35Cys	VAR_028453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028453	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Tyr35His	VAR_028454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028454	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly41Cys	VAR_001047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001047	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg48Cys	VAR_001048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001048	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg48Lys	VAR_028455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028455	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Lys67Glu	VAR_028456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028456	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Lys67Asn	VAR_028457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028457	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Leu69Pro	VAR_028458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028458	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Glu72Lys	VAR_017330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017330	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asp75Glu	VAR_028459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028459	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asp75Tyr	VAR_028460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028460	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly89Asp	VAR_001050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001050	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly89Val	VAR_001051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001051	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly92Ala	VAR_028463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028463	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly92Val	VAR_028464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028464	rs28935204 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ala97Pro	VAR_017331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017331	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Glu98Lys	VAR_028465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028465	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Val99Asp	VAR_001052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001052	rs28935205 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asp101Gly	VAR_028466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028466	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asp101His	VAR_028467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028467	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asp101Val	VAR_028468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028468	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Val104Asp	VAR_001053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001053	rs28935206 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Lys108Thr	VAR_001054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001054	rs28935207 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Met110Val	VAR_001055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001055	rs28936083 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ala111Thr	VAR_028469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028469	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ala111Val	VAR_028470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028470	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.His113Arg	VAR_028471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028471	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.His113Tyr	VAR_028472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028472	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Leu117Phe	VAR_028473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028473	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Leu117Arg	VAR_001056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001056	rs28935208 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly121Ser	VAR_028474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028474	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Glu129Val	VAR_001057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001057	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly130Arg	VAR_001058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001058	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Glu132Asp	VAR_001059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001059	rs28935209 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Tyr133Cys	VAR_001060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001060	rs28935210 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asp135Gly	VAR_001061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001061	rs28935211 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asp135Tyr	VAR_028475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028475	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Thr137Ala	VAR_028476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028476	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Thr137Ile	VAR_001062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001062	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ser138Arg	VAR_028477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028477	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Glu141Lys	VAR_028478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028478	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asp145His	VAR_028479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028479	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Val147Asp	VAR_028480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028480	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Tyr155His	VAR_017332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017332	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Val159Ala	VAR_028481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028481	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asn163Lys	VAR_028482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028482	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly164Asp	VAR_028483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028483	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly164Val	VAR_001063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001063	rs28935212 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Pro165Ser	VAR_001064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001064	rs28935213 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Cys172Trp	VAR_028484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028484	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ser176Pro	VAR_028485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028485	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ser179Pro	VAR_028486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028486	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Val181Glu	VAR_017333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017333	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Val181Met	VAR_001065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001065	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Lys185Thr	VAR_001066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001066	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asp186Gly	VAR_028487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028487	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asp186Tyr	VAR_028488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028488	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ser189Leu	VAR_001067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001067	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly193Arg	VAR_028489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028489	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Cys198Gly	VAR_028490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028490	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ser202Asn	VAR_028491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028491	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ser202Arg	VAR_008123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008123	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Phe214Val	VAR_028492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028492	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Leu217His	VAR_028493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028493	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ala219Asp	VAR_028494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028494	- Hemophilia A (HEMA) [MIM:306700]	SWISS	2	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Ala219Thr	VAR_028495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028495	- Hemophilia A (HEMA) [MIM:306700]	SWISS	2	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Val220Gly	VAR_028496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028496	- Hemophilia A (HEMA) [MIM:306700]	SWISS	3	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Asp222Val	VAR_001068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001068	- Hemophilia A (HEMA) [MIM:306700]	SWISS	5	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Glu223Lys	VAR_028497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028497	- Hemophilia A (HEMA) [MIM:306700]	SWISS	6	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Gly224Trp	VAR_001069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001069	- Hemophilia A (HEMA) [MIM:306700]	SWISS	7	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Thr252Ile	VAR_028498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028498	- Hemophilia A (HEMA) [MIM:306700]	SWISS	46	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Val253Phe	VAR_001070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001070	- Hemophilia A (HEMA) [MIM:306700]	SWISS	47	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Asn254Ile	VAR_017334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017334	- Hemophilia A (HEMA) [MIM:306700]	SWISS	48	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Gly255Val	VAR_015127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015127	- Hemophilia A (HEMA) [MIM:306700]	SWISS	49	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Pro262Leu	VAR_028499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028499	- Hemophilia A (HEMA) [MIM:306700]	SWISS	94	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Gly263Ser	VAR_028500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028500	- Hemophilia A (HEMA) [MIM:306700]	SWISS	95	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Gly266Glu	VAR_001071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001071	- Hemophilia A (HEMA) [MIM:306700]	SWISS	98	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Cys267Tyr	VAR_028501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028501	- Hemophilia A (HEMA) [MIM:306700]	SWISS	99	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Trp274Cys	VAR_028502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028502	rs34371500 Hemophilia A (HEMA) [MIM:306700]	SWISS	106	pfam00394	4503647,NP_000123
2157	119767	Disease	p.His275Leu	VAR_028503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028503	- Hemophilia A (HEMA) [MIM:306700]	SWISS	107	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Gly278Arg	VAR_001072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001072	- Hemophilia A (HEMA) [MIM:306700]	SWISS	110	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Glu284Lys	VAR_028504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028504	- Hemophilia A (HEMA) [MIM:306700]	SWISS	116	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Val285Gly	VAR_001073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001073	- Hemophilia A (HEMA) [MIM:306700]	SWISS	117	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Glu291Gly	VAR_001074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001074	- Hemophilia A (HEMA) [MIM:306700]	SWISS	123	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Glu291Lys	VAR_028505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028505	- Hemophilia A (HEMA) [MIM:306700]	SWISS	123	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Thr294Ile	VAR_001075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001075	- Hemophilia A (HEMA) [MIM:306700]	SWISS	127	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Phe295Leu	VAR_028506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028506	- Hemophilia A (HEMA) [MIM:306700]	SWISS	128	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Val297Ala	VAR_028507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028507	- Hemophilia A (HEMA) [MIM:306700]	SWISS	138	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Asn299Ile	VAR_001076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001076	rs28935215 Hemophilia A (HEMA) [MIM:306700]	SWISS	142	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Arg301Cys	VAR_028508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028508	- Hemophilia A (HEMA) [MIM:306700]	SWISS	144	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Arg301His	VAR_001077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001077	rs28935216 Hemophilia A (HEMA) [MIM:306700]	SWISS	144	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Arg301Leu	VAR_001078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001078	- Hemophilia A (HEMA) [MIM:306700]	SWISS	144	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Ala303Glu	VAR_028510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028510	- Hemophilia A (HEMA) [MIM:306700]	SWISS	146	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Ala303Pro	VAR_028511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028511	- Hemophilia A (HEMA) [MIM:306700]	SWISS	146	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Ile307Ser	VAR_028512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028512	- Hemophilia A (HEMA) [MIM:306700]	SWISS	150	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Ser308Leu	VAR_001079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001079	rs28937268 Hemophilia A (HEMA) [MIM:306700]	SWISS	151	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Phe312Ser	VAR_001080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001080	- Hemophilia A (HEMA) [MIM:306700]	SWISS	155	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Thr314Ala	VAR_001081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001081	rs28937269 Hemophilia A (HEMA) [MIM:306700]	SWISS	157	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Thr314Ile	VAR_001082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001082	- Hemophilia A (HEMA) [MIM:306700]	SWISS	157	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Ala315Val	VAR_028513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028513	- Hemophilia A (HEMA) [MIM:306700]	SWISS	158	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Gly323Glu	VAR_015128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015128	- Hemophilia A (HEMA) [MIM:306700]	SWISS	174	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Leu326Pro	VAR_028515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028515	- Hemophilia A (HEMA) [MIM:306700]	SWISS	177	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Leu327Pro	VAR_001083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001083	rs28937270 Hemophilia A (HEMA) [MIM:306700]	SWISS	178	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Leu327Val	VAR_028516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028516	- Hemophilia A (HEMA) [MIM:306700]	SWISS	178	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Cys329Phe	VAR_028517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028517	- Hemophilia A (HEMA) [MIM:306700]	SWISS	180	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Ile331Val	VAR_001084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001084	- Hemophilia A (HEMA) [MIM:306700]	SWISS	182	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Met339Thr	VAR_028518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028518	- Hemophilia A (HEMA) [MIM:306700]	SWISS	202	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Glu340Lys	VAR_028519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028519	- Hemophilia A (HEMA) [MIM:306700]	SWISS	203	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Val345Ala	VAR_028520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028520	- Hemophilia A (HEMA) [MIM:306700]	SWISS	208	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Val345Leu	VAR_001085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001085	- Hemophilia A (HEMA) [MIM:306700]	SWISS	208	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Cys348Arg	VAR_001086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001086	- Hemophilia A (HEMA) [MIM:306700]	SWISS	211	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Cys348Ser	VAR_001087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001087	- Hemophilia A (HEMA) [MIM:306700]	SWISS	211	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Cys348Tyr	VAR_001088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001088	- Hemophilia A (HEMA) [MIM:306700]	SWISS	211	pfam00394	4503647,NP_000123
2157	119767	Disease	p.Tyr365Cys	VAR_028521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028521	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg391Cys	VAR_001089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001089	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg391His	VAR_001090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001090	rs28935499 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg391Pro	VAR_001091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001091	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ser392Leu	VAR_001092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001092	rs28933668 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ser392Pro	VAR_001093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001093	rs28933669 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Trp401Gly	VAR_028522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028522	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ile405Phe	VAR_028523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028523	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ile405Ser	VAR_001094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001094	rs28933670 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Glu409Gly	VAR_001095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001095	rs28933671 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Trp412Gly	VAR_028524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028524	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Trp412Arg	VAR_028525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028525	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Lys427Ile	VAR_028526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028526	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Leu431Phe	VAR_001096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001096	rs28933672 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Leu431Ser	VAR_028527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028527	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg437Pro	VAR_028528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028528	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg437Trp	VAR_028529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028529	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ile438Phe	VAR_028530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028530	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly439Asp	VAR_028531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028531	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly439Ser	VAR_017335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017335	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly439Val	VAR_001097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001097	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Tyr442Cys	VAR_028532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028532	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Lys444Arg	VAR_001098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001098	rs28937272 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Tyr450Asp	VAR_028533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028533	- Hemophilia A (HEMA) [MIM:306700]	SWISS	7	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Tyr450Asn	VAR_001099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001099	rs28937273 Hemophilia A (HEMA) [MIM:306700]	SWISS	7	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Thr454Ile	VAR_028534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028534	- Hemophilia A (HEMA) [MIM:306700]	SWISS	11	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Phe455Cys	VAR_028535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028535	- Hemophilia A (HEMA) [MIM:306700]	SWISS	12	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Gly466Glu	VAR_028536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028536	- Hemophilia A (HEMA) [MIM:306700]	SWISS	25	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Pro470Leu	VAR_028537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028537	- Hemophilia A (HEMA) [MIM:306700]	SWISS	29	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Pro470Arg	VAR_028538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028538	- Hemophilia A (HEMA) [MIM:306700]	SWISS	29	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Pro470Thr	VAR_028539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028539	- Hemophilia A (HEMA) [MIM:306700]	SWISS	29	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Gly474Glu	VAR_028540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028540	- Hemophilia A (HEMA) [MIM:306700]	SWISS	33	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Gly474Arg	VAR_001100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001100	- Hemophilia A (HEMA) [MIM:306700]	SWISS	33	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Glu475Lys	VAR_028541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028541	- Hemophilia A (HEMA) [MIM:306700]	SWISS	34	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Gly477Val	VAR_028542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028542	- Hemophilia A (HEMA) [MIM:306700]	SWISS	36	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Asp478Asn	VAR_028543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028543	- Hemophilia A (HEMA) [MIM:306700]	SWISS	37	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Thr479Arg	VAR_028544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028544	- Hemophilia A (HEMA) [MIM:306700]	SWISS	38	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Phe484Cys	VAR_028545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028545	- Hemophilia A (HEMA) [MIM:306700]	SWISS	43	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Ala488Gly	VAR_001101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001101	- Hemophilia A (HEMA) [MIM:306700]	SWISS	47	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Arg490Gly	VAR_028546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028546	- Hemophilia A (HEMA) [MIM:306700]	SWISS	52	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Tyr492Cys	VAR_001103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001103	rs28937275 Hemophilia A (HEMA) [MIM:306700]	SWISS	55	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Tyr492His	VAR_001102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001102	rs28937274 Hemophilia A (HEMA) [MIM:306700]	SWISS	55	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Ile494Thr	VAR_001104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001104	rs28936968 Hemophilia A (HEMA) [MIM:306700]	SWISS	57	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Gly498Arg	VAR_001105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001105	rs28936969 Hemophilia A (HEMA) [MIM:306700]	SWISS	61	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Arg503His	VAR_028547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028547	rs35383156 Hemophilia A (HEMA) [MIM:306700]	SWISS	62_G	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Gly513Ser	VAR_028548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028548	- Hemophilia A (HEMA) [MIM:306700]	SWISS	67	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Ile522Tyr	VAR_028549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028549	- Hemophilia A (HEMA) [MIM:306700]	SWISS	81	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Lys529Glu	VAR_017336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017336	- Hemophilia A (HEMA) [MIM:306700]	SWISS	89	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Trp532Gly	VAR_028550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028550	- Hemophilia A (HEMA) [MIM:306700]	SWISS	92	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Pro540Thr	VAR_028551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028551	- Hemophilia A (HEMA) [MIM:306700]	SWISS	100_G	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Thr541Ser	VAR_028552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028552	- Hemophilia A (HEMA) [MIM:306700]	SWISS	100_G	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Asp544Asn	VAR_001106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001106	rs28937276 Hemophilia A (HEMA) [MIM:306700]	SWISS	100_G	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Arg546Trp	VAR_001107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001107	rs28937277 Hemophilia A (HEMA) [MIM:306700]	SWISS	100_G	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Arg550Cys	VAR_001108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001108	rs28937278 Hemophilia A (HEMA) [MIM:306700]	SWISS	102	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Arg550Gly	VAR_001109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001109	- Hemophilia A (HEMA) [MIM:306700]	SWISS	102	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Arg550His	VAR_001110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001110	rs28937279 Hemophilia A (HEMA) [MIM:306700]	SWISS	102	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Ser553Pro	VAR_028553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028553	- Hemophilia A (HEMA) [MIM:306700]	SWISS	105	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Ser554Cys	VAR_028554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028554	- Hemophilia A (HEMA) [MIM:306700]	SWISS	106	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Ser554Gly	VAR_001111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001111	- Hemophilia A (HEMA) [MIM:306700]	SWISS	106	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Val556Asp	VAR_001112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001112	- Hemophilia A (HEMA) [MIM:306700]	SWISS	108	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Arg560Thr	VAR_028555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028555	- Hemophilia A (HEMA) [MIM:306700]	SWISS	114	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Asp561Gly	VAR_028556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028556	- Hemophilia A (HEMA) [MIM:306700]	SWISS	117	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Asp561His	VAR_028557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028557	- Hemophilia A (HEMA) [MIM:306700]	SWISS	117	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Asp561Tyr	VAR_008967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008967	- Hemophilia A (HEMA) [MIM:306700]	SWISS	117	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Ile567Thr	VAR_017337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017337	- Hemophilia A (HEMA) [MIM:306700]	SWISS	123	pfam07732	4503647,NP_000123
2157	119767	Disease	p.Ser577Phe	VAR_001113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001113	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Val578Ala	VAR_028558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028558	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asp579Ala	VAR_028559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028559	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asp579His	VAR_028560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028560	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asn583Ser	VAR_028561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028561	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gln584His	VAR_028562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028562	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gln584Lys	VAR_001114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001114	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gln584Arg	VAR_028563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028563	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ile585Arg	VAR_028564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028564	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ile585Thr	VAR_001115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001115	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Met586Val	VAR_015129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015129	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asp588Gly	VAR_028565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028565	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asp588Tyr	VAR_028566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028566	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Leu594Gln	VAR_028567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028567	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ser596Pro	VAR_001116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001116	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asn601Asp	VAR_028568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028568	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asn601Lys	VAR_028569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028569	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg602Gly	VAR_028570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028570	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ser603Ile	VAR_001117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001117	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ser603Arg	VAR_028571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028571	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Trp604Cys	VAR_001118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001118	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Tyr605His	VAR_028572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028572	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Tyr605Ser	VAR_001119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001119	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asn609Ile	VAR_028573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028573	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg612Cys	VAR_001120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001120	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asn631Lys	VAR_001121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001121	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asn631Ser	VAR_001122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001122	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Met633Ile	VAR_028574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028574	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ser635Asn	VAR_028575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028575	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asn637Asp	VAR_028576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028576	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asn637Ser	VAR_028577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028577	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Tyr639Cys	VAR_028578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028578	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Leu644Val	VAR_001123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001123	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Leu650Phe	VAR_028579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028579	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Val653Ala	VAR_001124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001124	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Val653Met	VAR_001125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001125	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Leu659Pro	VAR_028580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028580	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ala663Val	VAR_001126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001126	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gln664Pro	VAR_028581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028581	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Phe677Leu	VAR_001128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001128	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Met681Ile	VAR_028582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028582	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Val682Phe	VAR_028583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028583	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Tyr683Cys	VAR_028584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028584	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Tyr683Asn	VAR_028585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028585	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Thr686Arg	VAR_028586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028586	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Phe698Leu	VAR_028587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028587	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Met699Thr	VAR_028588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028588	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Met699Val	VAR_001129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001129	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Met701Ile	VAR_028589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028589	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly705Val	VAR_028590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028590	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly710Trp	VAR_028591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028591	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asn713Ile	VAR_028592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028592	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg717Leu	VAR_028593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028593	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg717Trp	VAR_001130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001130	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly720Asp	VAR_001131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001131	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly720Ser	VAR_028594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028594	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Met721Ile	VAR_028595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028595	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Met721Leu	VAR_028596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028596	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ala723Thr	VAR_001132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001132	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Leu725Gln	VAR_028597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028597	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Val727Phe	VAR_001133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001133	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Glu739Lys	VAR_001134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001134	rs28937285 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Tyr742Cys	VAR_028598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028598	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Pro947Arg	VAR_028599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028599	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Val1012Leu	VAR_028600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028600	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Glu1057Lys	VAR_001135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001135	rs28933673 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.His1066Tyr	VAR_028601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028601	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gln1336Lys	VAR_028602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028602	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asn1460Lys	VAR_028603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028603	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ala1610Ser	VAR_028604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028604	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ile1698Thr	VAR_028605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028605	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Tyr1699Cys	VAR_001138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001138	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Tyr1699Phe	VAR_001139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001139	rs28935203 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Glu1701Lys	VAR_028606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028606	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gln1705His	VAR_028607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028607	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg1708Cys	VAR_001140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001140	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg1708His	VAR_001141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001141	rs28937286 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Thr1714Ser	VAR_028608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028608	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg1715Gly	VAR_001142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001142	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Glu1723Lys	VAR_001143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001143	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asp1727Val	VAR_028609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028609	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Tyr1728Cys	VAR_001144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001144	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg1740Gly	VAR_028610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028610	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Lys1751Gln	VAR_028611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028611	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg1768His	VAR_028612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028612	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly1769Arg	VAR_001145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001145	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Leu1771Pro	VAR_028613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028613	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Leu1775Phe	VAR_001147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001147	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Leu1775Val	VAR_001146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001146	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Leu1777Pro	VAR_028614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028614	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly1779Glu	VAR_001148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001148	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly1779Arg	VAR_028615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028615	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Pro1780Leu	VAR_028616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028616	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ile1782Arg	VAR_028617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028617	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asp1788His	VAR_028618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028618	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Met1791Thr	VAR_001149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001149	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ala1798Pro	VAR_028619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028619	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ser1799His	VAR_028620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028620	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg1800Cys	VAR_001151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001151	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg1800Gly	VAR_001152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001152	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg1800His	VAR_001150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001150	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Pro1801Ala	VAR_028621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028621	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Tyr1802Cys	VAR_028622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028622	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ser1803Tyr	VAR_001153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001153	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Phe1804Ser	VAR_017338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017338	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Leu1808Phe	VAR_001154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001154	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Met1842Ile	VAR_001155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001155	rs28933674 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Pro1844Ser	VAR_001156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001156	rs28933675 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Thr1845Pro	VAR_001157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001157	rs28933676 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Glu1848Gly	VAR_028623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028623	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ala1853Thr	VAR_001158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001158	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ala1853Val	VAR_001159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001159	rs28933677 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ser1858Cys	VAR_028624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028624	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Lys1864Glu	VAR_028625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028625	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asp1865Asn	VAR_001160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001160	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Asp1865Tyr	VAR_001161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001161	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.His1867Pro	VAR_028626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028626	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.His1867Arg	VAR_001162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001162	rs28933679 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly1869Asp	VAR_028627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028627	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly1869Val	VAR_001163	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001163	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Gly1872Glu	VAR_028628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028628	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Pro1873Arg	VAR_001164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001164	rs28933680 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Leu1875Pro	VAR_028629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028629	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Val1876Leu	VAR_028630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028630	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Cys1877Arg	VAR_028631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028631	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Leu1882Pro	VAR_028632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028632	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Arg1888Ile	VAR_001165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001165	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Glu1894Gly	VAR_001166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001166	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ile1901Phe	VAR_028633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028633	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Glu1904Asp	VAR_028634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028634	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Glu1904Lys	VAR_001167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001167	rs28933681 Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ser1907Cys	VAR_028635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028635	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ser1907Arg	VAR_028636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028636	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Trp1908Leu	VAR_028637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028637	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Tyr1909Cys	VAR_028638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028638	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Ala1939Thr	VAR_028639	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028639	- Hemophilia A (HEMA) [MIM:306700]	SWISS	44	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Ala1939Val	VAR_028640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028640	- Hemophilia A (HEMA) [MIM:306700]	SWISS	44	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Asn1941Asp	VAR_001168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001168	- Hemophilia A (HEMA) [MIM:306700]	SWISS	46	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Asn1941Ser	VAR_001169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001169	rs28933682 Hemophilia A (HEMA) [MIM:306700]	SWISS	46	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Gly1942Ala	VAR_015130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015130	- Hemophilia A (HEMA) [MIM:306700]	SWISS	47	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Met1945Val	VAR_028641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028641	- Hemophilia A (HEMA) [MIM:306700]	SWISS	50	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Leu1951Phe	VAR_028642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028642	- Hemophilia A (HEMA) [MIM:306700]	SWISS	56	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Arg1960Leu	VAR_001171	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001171	- Hemophilia A (HEMA) [MIM:306700]	SWISS	65	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Arg1960Gln	VAR_001170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001170	rs28937294 Hemophilia A (HEMA) [MIM:306700]	SWISS	65	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Leu1963Pro	VAR_015131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015131	- Hemophilia A (HEMA) [MIM:306700]	SWISS	68	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Ser1965Ile	VAR_028643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028643	- Hemophilia A (HEMA) [MIM:306700]	SWISS	70	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Met1966Ile	VAR_028644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028644	- Hemophilia A (HEMA) [MIM:306700]	SWISS	78	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Met1966Val	VAR_028645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028645	- Hemophilia A (HEMA) [MIM:306700]	SWISS	78	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Gly1967Asp	VAR_001172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001172	rs28937295 Hemophilia A (HEMA) [MIM:306700]	SWISS	79	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Ser1968Arg	VAR_028646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028646	- Hemophilia A (HEMA) [MIM:306700]	SWISS	83	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Asn1971Thr	VAR_028647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028647	- Hemophilia A (HEMA) [MIM:306700]	SWISS	86	pfam07731	4503647,NP_000123
2157	119767	Disease	p.His1973Leu	VAR_028648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028648	- Hemophilia A (HEMA) [MIM:306700]	SWISS	113	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Gly1979Val	VAR_001173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001173	- Hemophilia A (HEMA) [MIM:306700]	SWISS	119	pfam07731	4503647,NP_000123
2157	119767	Disease	p.His1980Pro	VAR_028649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028649	- Hemophilia A (HEMA) [MIM:306700]	SWISS	120	pfam07731	4503647,NP_000123
2157	119767	Disease	p.His1980Tyr	VAR_001174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001174	- Hemophilia A (HEMA) [MIM:306700]	SWISS	120	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Phe1982Ile	VAR_028650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028650	- Hemophilia A (HEMA) [MIM:306700]	SWISS	122	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Arg1985Gln	VAR_028651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028651	- Hemophilia A (HEMA) [MIM:306700]	SWISS	125	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Leu1994Pro	VAR_028652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028652	- Hemophilia A (HEMA) [MIM:306700]	SWISS	170	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Tyr1998Cys	VAR_028653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028653	- Hemophilia A (HEMA) [MIM:306700]	SWISS	174	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Gly2000Ala	VAR_028654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028654	- Hemophilia A (HEMA) [MIM:306700]	SWISS	183	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Thr2004Arg	VAR_028655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028655	- Hemophilia A (HEMA) [MIM:306700]	SWISS	187	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Met2007Ile	VAR_028656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028656	- Hemophilia A (HEMA) [MIM:306700]	SWISS	190	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Trp2015Cys	VAR_028657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028657	- Hemophilia A (HEMA) [MIM:306700]	SWISS	202	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Arg2016Pro	VAR_028658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028658	- Hemophilia A (HEMA) [MIM:306700]	SWISS	203	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Arg2016Trp	VAR_001175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001175	- Hemophilia A (HEMA) [MIM:306700]	SWISS	203	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Glu2018Gly	VAR_028659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028659	- Hemophilia A (HEMA) [MIM:306700]	SWISS	205	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Gly2022Asp	VAR_028660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028660	- Hemophilia A (HEMA) [MIM:306700]	SWISS	209	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Gly2028Arg	VAR_028661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028661	- Hemophilia A (HEMA) [MIM:306700]	SWISS	217	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Ser2030Asn	VAR_028662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028662	- Hemophilia A (HEMA) [MIM:306700]	SWISS	219	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Val2035Ala	VAR_028663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028663	- Hemophilia A (HEMA) [MIM:306700]	SWISS	224	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Tyr2036Cys	VAR_015132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015132	- Hemophilia A (HEMA) [MIM:306700]	SWISS	225	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Asn2038Ser	VAR_001176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001176	- Hemophilia A (HEMA) [MIM:306700]	SWISS	227	pfam07731	4503647,NP_000123
2157	119767	Disease	p.Cys2040Tyr	VAR_028664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028664	- Hemophilia A (HEMA) [MIM:306700]	SWISS	2	smart00231	4503647,NP_000123
2157	119767	Disease	p.Gly2045Glu	VAR_028665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028665	- Hemophilia A (HEMA) [MIM:306700]	SWISS	4	cd00057	4503647,NP_000123
2157	119767	Disease	p.Gly2045Glu	VAR_028665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028665	- Hemophilia A (HEMA) [MIM:306700]	SWISS	11	smart00231	4503647,NP_000123
2157	119767	Disease	p.Gly2045Val	VAR_028666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028666	- Hemophilia A (HEMA) [MIM:306700]	SWISS	4	cd00057	4503647,NP_000123
2157	119767	Disease	p.Gly2045Val	VAR_028666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028666	- Hemophilia A (HEMA) [MIM:306700]	SWISS	11	smart00231	4503647,NP_000123
2157	119767	Disease	p.Ile2051Ser	VAR_017339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017339	- Hemophilia A (HEMA) [MIM:306700]	SWISS	10	cd00057	4503647,NP_000123
2157	119767	Disease	p.Ile2051Ser	VAR_017339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017339	- Hemophilia A (HEMA) [MIM:306700]	SWISS	17	smart00231	4503647,NP_000123
2157	119767	Disease	p.Ile2056Asn	VAR_028667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028667	- Hemophilia A (HEMA) [MIM:306700]	SWISS	15	cd00057	4503647,NP_000123
2157	119767	Disease	p.Ile2056Asn	VAR_028667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028667	- Hemophilia A (HEMA) [MIM:306700]	SWISS	30	smart00231	4503647,NP_000123
2157	119767	Disease	p.Ile2056Asn	VAR_028667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028667	- Hemophilia A (HEMA) [MIM:306700]	SWISS	2	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Ala2058Pro	VAR_028668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028668	- Hemophilia A (HEMA) [MIM:306700]	SWISS	18	cd00057	4503647,NP_000123
2157	119767	Disease	p.Ala2058Pro	VAR_028668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028668	- Hemophilia A (HEMA) [MIM:306700]	SWISS	34	smart00231	4503647,NP_000123
2157	119767	Disease	p.Ala2058Pro	VAR_028668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028668	- Hemophilia A (HEMA) [MIM:306700]	SWISS	4	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Trp2065Arg	VAR_001177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001177	- Hemophilia A (HEMA) [MIM:306700]	SWISS	31	cd00057	4503647,NP_000123
2157	119767	Disease	p.Trp2065Arg	VAR_001177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001177	- Hemophilia A (HEMA) [MIM:306700]	SWISS	63	smart00231	4503647,NP_000123
2157	119767	Disease	p.Trp2065Arg	VAR_001177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001177	- Hemophilia A (HEMA) [MIM:306700]	SWISS	13	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Pro2067Leu	VAR_028669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028669	- Hemophilia A (HEMA) [MIM:306700]	SWISS	33	cd00057	4503647,NP_000123
2157	119767	Disease	p.Pro2067Leu	VAR_028669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028669	- Hemophilia A (HEMA) [MIM:306700]	SWISS	67	smart00231	4503647,NP_000123
2157	119767	Disease	p.Pro2067Leu	VAR_028669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028669	- Hemophilia A (HEMA) [MIM:306700]	SWISS	26	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Ala2070Val	VAR_028670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028670	- Hemophilia A (HEMA) [MIM:306700]	SWISS	36	cd00057	4503647,NP_000123
2157	119767	Disease	p.Ala2070Val	VAR_028670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028670	- Hemophilia A (HEMA) [MIM:306700]	SWISS	71	smart00231	4503647,NP_000123
2157	119767	Disease	p.Ala2070Val	VAR_028670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028670	- Hemophilia A (HEMA) [MIM:306700]	SWISS	29	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Ser2082Asn	VAR_028671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028671	- Hemophilia A (HEMA) [MIM:306700]	SWISS	57	cd00057	4503647,NP_000123
2157	119767	Disease	p.Ser2082Asn	VAR_028671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028671	- Hemophilia A (HEMA) [MIM:306700]	SWISS	106	smart00231	4503647,NP_000123
2157	119767	Disease	p.Ser2082Asn	VAR_028671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028671	- Hemophilia A (HEMA) [MIM:306700]	SWISS	55	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Ser2088Phe	VAR_001178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001178	- Hemophilia A (HEMA) [MIM:306700]	SWISS	71	cd00057	4503647,NP_000123
2157	119767	Disease	p.Ser2088Phe	VAR_001178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001178	- Hemophilia A (HEMA) [MIM:306700]	SWISS	135	smart00231	4503647,NP_000123
2157	119767	Disease	p.Ser2088Phe	VAR_001178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001178	- Hemophilia A (HEMA) [MIM:306700]	SWISS	73	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Asp2093Gly	VAR_001179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001179	- Hemophilia A (HEMA) [MIM:306700]	SWISS	76	cd00057	4503647,NP_000123
2157	119767	Disease	p.Asp2093Gly	VAR_001179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001179	- Hemophilia A (HEMA) [MIM:306700]	SWISS	145	smart00231	4503647,NP_000123
2157	119767	Disease	p.Asp2093Gly	VAR_001179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001179	- Hemophilia A (HEMA) [MIM:306700]	SWISS	80	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Asp2093Tyr	VAR_028672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028672	- Hemophilia A (HEMA) [MIM:306700]	SWISS	76	cd00057	4503647,NP_000123
2157	119767	Disease	p.Asp2093Tyr	VAR_028672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028672	- Hemophilia A (HEMA) [MIM:306700]	SWISS	145	smart00231	4503647,NP_000123
2157	119767	Disease	p.Asp2093Tyr	VAR_028672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028672	- Hemophilia A (HEMA) [MIM:306700]	SWISS	80	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Thr2105Asn	VAR_001180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001180	- Hemophilia A (HEMA) [MIM:306700]	SWISS	88	cd00057	4503647,NP_000123
2157	119767	Disease	p.Thr2105Asn	VAR_001180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001180	- Hemophilia A (HEMA) [MIM:306700]	SWISS	168	smart00231	4503647,NP_000123
2157	119767	Disease	p.Thr2105Asn	VAR_001180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001180	- Hemophilia A (HEMA) [MIM:306700]	SWISS	93	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Gln2106Glu	VAR_028673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028673	- Hemophilia A (HEMA) [MIM:306700]	SWISS	89	cd00057	4503647,NP_000123
2157	119767	Disease	p.Gln2106Glu	VAR_028673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028673	- Hemophilia A (HEMA) [MIM:306700]	SWISS	169	smart00231	4503647,NP_000123
2157	119767	Disease	p.Gln2106Glu	VAR_028673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028673	- Hemophilia A (HEMA) [MIM:306700]	SWISS	94	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Gln2106Arg	VAR_028674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028674	- Hemophilia A (HEMA) [MIM:306700]	SWISS	89	cd00057	4503647,NP_000123
2157	119767	Disease	p.Gln2106Arg	VAR_028674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028674	- Hemophilia A (HEMA) [MIM:306700]	SWISS	169	smart00231	4503647,NP_000123
2157	119767	Disease	p.Gln2106Arg	VAR_028674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028674	- Hemophilia A (HEMA) [MIM:306700]	SWISS	94	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Gly2107Ser	VAR_001181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001181	- Hemophilia A (HEMA) [MIM:306700]	SWISS	90	cd00057	4503647,NP_000123
2157	119767	Disease	p.Gly2107Ser	VAR_001181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001181	- Hemophilia A (HEMA) [MIM:306700]	SWISS	172	smart00231	4503647,NP_000123
2157	119767	Disease	p.Gly2107Ser	VAR_001181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001181	- Hemophilia A (HEMA) [MIM:306700]	SWISS	95	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2109Cys	VAR_028675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028675	- Hemophilia A (HEMA) [MIM:306700]	SWISS	92	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2109Cys	VAR_028675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028675	- Hemophilia A (HEMA) [MIM:306700]	SWISS	176	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2109Cys	VAR_028675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028675	- Hemophilia A (HEMA) [MIM:306700]	SWISS	99	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Ile2117Phe	VAR_028676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028676	- Hemophilia A (HEMA) [MIM:306700]	SWISS	102	cd00057	4503647,NP_000123
2157	119767	Disease	p.Ile2117Phe	VAR_028676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028676	- Hemophilia A (HEMA) [MIM:306700]	SWISS	202	smart00231	4503647,NP_000123
2157	119767	Disease	p.Ile2117Phe	VAR_028676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028676	- Hemophilia A (HEMA) [MIM:306700]	SWISS	116	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Ile2117Ser	VAR_028677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028677	- Hemophilia A (HEMA) [MIM:306700]	SWISS	102	cd00057	4503647,NP_000123
2157	119767	Disease	p.Ile2117Ser	VAR_028677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028677	- Hemophilia A (HEMA) [MIM:306700]	SWISS	202	smart00231	4503647,NP_000123
2157	119767	Disease	p.Ile2117Ser	VAR_028677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028677	- Hemophilia A (HEMA) [MIM:306700]	SWISS	116	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Gln2119Arg	VAR_028678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028678	- Hemophilia A (HEMA) [MIM:306700]	SWISS	104	cd00057	4503647,NP_000123
2157	119767	Disease	p.Gln2119Arg	VAR_028678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028678	- Hemophilia A (HEMA) [MIM:306700]	SWISS	210	smart00231	4503647,NP_000123
2157	119767	Disease	p.Gln2119Arg	VAR_028678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028678	- Hemophilia A (HEMA) [MIM:306700]	SWISS	118	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Phe2120Cys	VAR_028679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028679	- Hemophilia A (HEMA) [MIM:306700]	SWISS	105	cd00057	4503647,NP_000123
2157	119767	Disease	p.Phe2120Cys	VAR_028679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028679	- Hemophilia A (HEMA) [MIM:306700]	SWISS	211	smart00231	4503647,NP_000123
2157	119767	Disease	p.Phe2120Cys	VAR_028679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028679	- Hemophilia A (HEMA) [MIM:306700]	SWISS	119	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Phe2120Leu	VAR_001182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001182	- Hemophilia A (HEMA) [MIM:306700]	SWISS	105	cd00057	4503647,NP_000123
2157	119767	Disease	p.Phe2120Leu	VAR_001182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001182	- Hemophilia A (HEMA) [MIM:306700]	SWISS	211	smart00231	4503647,NP_000123
2157	119767	Disease	p.Phe2120Leu	VAR_001182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001182	- Hemophilia A (HEMA) [MIM:306700]	SWISS	119	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Tyr2124Cys	VAR_001183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001183	- Hemophilia A (HEMA) [MIM:306700]	SWISS	109	cd00057	4503647,NP_000123
2157	119767	Disease	p.Tyr2124Cys	VAR_001183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001183	- Hemophilia A (HEMA) [MIM:306700]	SWISS	225	smart00231	4503647,NP_000123
2157	119767	Disease	p.Tyr2124Cys	VAR_001183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001183	- Hemophilia A (HEMA) [MIM:306700]	SWISS	123	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2135Pro	VAR_001184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001184	- Hemophilia A (HEMA) [MIM:306700]	SWISS	122	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2135Pro	VAR_001184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001184	- Hemophilia A (HEMA) [MIM:306700]	SWISS	263	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2135Pro	VAR_001184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001184	- Hemophilia A (HEMA) [MIM:306700]	SWISS	144	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Ser2138Tyr	VAR_001185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001185	- Hemophilia A (HEMA) [MIM:306700]	SWISS	125	cd00057	4503647,NP_000123
2157	119767	Disease	p.Ser2138Tyr	VAR_001185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001185	- Hemophilia A (HEMA) [MIM:306700]	SWISS	266	smart00231	4503647,NP_000123
2157	119767	Disease	p.Ser2138Tyr	VAR_001185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001185	- Hemophilia A (HEMA) [MIM:306700]	SWISS	147	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Thr2141Asn	VAR_017340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017340	- Hemophilia A (HEMA) [MIM:306700]	SWISS	175	cd00057	4503647,NP_000123
2157	119767	Disease	p.Thr2141Asn	VAR_017340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017340	- Hemophilia A (HEMA) [MIM:306700]	SWISS	291	smart00231	4503647,NP_000123
2157	119767	Disease	p.Thr2141Asn	VAR_017340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017340	- Hemophilia A (HEMA) [MIM:306700]	SWISS	150	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Phe2145Cys	VAR_028680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028680	- Hemophilia A (HEMA) [MIM:306700]	SWISS	179	cd00057	4503647,NP_000123
2157	119767	Disease	p.Phe2145Cys	VAR_028680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028680	- Hemophilia A (HEMA) [MIM:306700]	SWISS	298	smart00231	4503647,NP_000123
2157	119767	Disease	p.Phe2145Cys	VAR_028680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028680	- Hemophilia A (HEMA) [MIM:306700]	SWISS	160	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Asn2148Ser	VAR_001186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001186	- Hemophilia A (HEMA) [MIM:306700]	SWISS	182	cd00057	4503647,NP_000123
2157	119767	Disease	p.Asn2148Ser	VAR_001186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001186	- Hemophilia A (HEMA) [MIM:306700]	SWISS	303	smart00231	4503647,NP_000123
2157	119767	Disease	p.Asn2148Ser	VAR_001186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001186	- Hemophilia A (HEMA) [MIM:306700]	SWISS	163	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Asn2157Asp	VAR_028681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028681	- Hemophilia A (HEMA) [MIM:306700]	SWISS	191	cd00057	4503647,NP_000123
2157	119767	Disease	p.Asn2157Asp	VAR_028681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028681	- Hemophilia A (HEMA) [MIM:306700]	SWISS	316	smart00231	4503647,NP_000123
2157	119767	Disease	p.Asn2157Asp	VAR_028681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028681	- Hemophilia A (HEMA) [MIM:306700]	SWISS	172	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Pro2162Leu	VAR_028682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028682	- Hemophilia A (HEMA) [MIM:306700]	SWISS	196	cd00057	4503647,NP_000123
2157	119767	Disease	p.Pro2162Leu	VAR_028682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028682	- Hemophilia A (HEMA) [MIM:306700]	SWISS	323	smart00231	4503647,NP_000123
2157	119767	Disease	p.Pro2162Leu	VAR_028682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028682	- Hemophilia A (HEMA) [MIM:306700]	SWISS	186	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2169Cys	VAR_028683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028683	- Hemophilia A (HEMA) [MIM:306700]	SWISS	203	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2169Cys	VAR_028683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028683	- Hemophilia A (HEMA) [MIM:306700]	SWISS	332	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2169Cys	VAR_028683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028683	- Hemophilia A (HEMA) [MIM:306700]	SWISS	198	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2169His	VAR_001187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001187	- Hemophilia A (HEMA) [MIM:306700]	SWISS	203	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2169His	VAR_001187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001187	- Hemophilia A (HEMA) [MIM:306700]	SWISS	332	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2169His	VAR_001187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001187	- Hemophilia A (HEMA) [MIM:306700]	SWISS	198	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Pro2172Gln	VAR_001188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001188	- Hemophilia A (HEMA) [MIM:306700]	SWISS	206	cd00057	4503647,NP_000123
2157	119767	Disease	p.Pro2172Gln	VAR_001188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001188	- Hemophilia A (HEMA) [MIM:306700]	SWISS	335	smart00231	4503647,NP_000123
2157	119767	Disease	p.Pro2172Gln	VAR_001188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001188	- Hemophilia A (HEMA) [MIM:306700]	SWISS	201	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Pro2172Arg	VAR_015133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015133	- Hemophilia A (HEMA) [MIM:306700]	SWISS	206	cd00057	4503647,NP_000123
2157	119767	Disease	p.Pro2172Arg	VAR_015133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015133	- Hemophilia A (HEMA) [MIM:306700]	SWISS	335	smart00231	4503647,NP_000123
2157	119767	Disease	p.Pro2172Arg	VAR_015133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015133	- Hemophilia A (HEMA) [MIM:306700]	SWISS	201	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Thr2173Ala	VAR_028684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028684	- Hemophilia A (HEMA) [MIM:306700]	SWISS	207	cd00057	4503647,NP_000123
2157	119767	Disease	p.Thr2173Ala	VAR_028684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028684	- Hemophilia A (HEMA) [MIM:306700]	SWISS	337	smart00231	4503647,NP_000123
2157	119767	Disease	p.Thr2173Ala	VAR_028684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028684	- Hemophilia A (HEMA) [MIM:306700]	SWISS	202	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Thr2173Ile	VAR_001189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001189	- Hemophilia A (HEMA) [MIM:306700]	SWISS	207	cd00057	4503647,NP_000123
2157	119767	Disease	p.Thr2173Ile	VAR_001189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001189	- Hemophilia A (HEMA) [MIM:306700]	SWISS	337	smart00231	4503647,NP_000123
2157	119767	Disease	p.Thr2173Ile	VAR_001189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001189	- Hemophilia A (HEMA) [MIM:306700]	SWISS	202	pfam00754	4503647,NP_000123
2157	119767	Disease	p.His2174Asp	VAR_028685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028685	- Hemophilia A (HEMA) [MIM:306700]	SWISS	208	cd00057	4503647,NP_000123
2157	119767	Disease	p.His2174Asp	VAR_028685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028685	- Hemophilia A (HEMA) [MIM:306700]	SWISS	347	smart00231	4503647,NP_000123
2157	119767	Disease	p.His2174Asp	VAR_028685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028685	- Hemophilia A (HEMA) [MIM:306700]	SWISS	203	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2178Cys	VAR_001190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001190	- Hemophilia A (HEMA) [MIM:306700]	SWISS	216	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2178Cys	VAR_001190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001190	- Hemophilia A (HEMA) [MIM:306700]	SWISS	354	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2178Cys	VAR_001190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001190	- Hemophilia A (HEMA) [MIM:306700]	SWISS	219	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2178His	VAR_001191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001191	- Hemophilia A (HEMA) [MIM:306700]	SWISS	216	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2178His	VAR_001191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001191	- Hemophilia A (HEMA) [MIM:306700]	SWISS	354	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2178His	VAR_001191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001191	- Hemophilia A (HEMA) [MIM:306700]	SWISS	219	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2178Leu	VAR_001192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001192	- Hemophilia A (HEMA) [MIM:306700]	SWISS	216	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2178Leu	VAR_001192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001192	- Hemophilia A (HEMA) [MIM:306700]	SWISS	354	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2178Leu	VAR_001192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001192	- Hemophilia A (HEMA) [MIM:306700]	SWISS	219	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2182Cys	VAR_001193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001193	- Hemophilia A (HEMA) [MIM:306700]	SWISS	221	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2182Cys	VAR_001193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001193	- Hemophilia A (HEMA) [MIM:306700]	SWISS	368	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2182Cys	VAR_001193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001193	- Hemophilia A (HEMA) [MIM:306700]	SWISS	223	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2182His	VAR_001194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001194	- Hemophilia A (HEMA) [MIM:306700]	SWISS	221	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2182His	VAR_001194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001194	- Hemophilia A (HEMA) [MIM:306700]	SWISS	368	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2182His	VAR_001194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001194	- Hemophilia A (HEMA) [MIM:306700]	SWISS	223	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2182Pro	VAR_028686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028686	- Hemophilia A (HEMA) [MIM:306700]	SWISS	221	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2182Pro	VAR_028686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028686	- Hemophilia A (HEMA) [MIM:306700]	SWISS	368	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2182Pro	VAR_028686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028686	- Hemophilia A (HEMA) [MIM:306700]	SWISS	223	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Met2183Arg	VAR_028687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028687	- Hemophilia A (HEMA) [MIM:306700]	SWISS	222	cd00057	4503647,NP_000123
2157	119767	Disease	p.Met2183Arg	VAR_028687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028687	- Hemophilia A (HEMA) [MIM:306700]	SWISS	370	smart00231	4503647,NP_000123
2157	119767	Disease	p.Met2183Arg	VAR_028687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028687	- Hemophilia A (HEMA) [MIM:306700]	SWISS	224	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Met2183Val	VAR_001195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001195	- Hemophilia A (HEMA) [MIM:306700]	SWISS	222	cd00057	4503647,NP_000123
2157	119767	Disease	p.Met2183Val	VAR_001195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001195	- Hemophilia A (HEMA) [MIM:306700]	SWISS	370	smart00231	4503647,NP_000123
2157	119767	Disease	p.Met2183Val	VAR_001195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001195	- Hemophilia A (HEMA) [MIM:306700]	SWISS	224	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Leu2185Ser	VAR_001196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001196	- Hemophilia A (HEMA) [MIM:306700]	SWISS	224	cd00057	4503647,NP_000123
2157	119767	Disease	p.Leu2185Ser	VAR_001196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001196	- Hemophilia A (HEMA) [MIM:306700]	SWISS	372	smart00231	4503647,NP_000123
2157	119767	Disease	p.Leu2185Trp	VAR_028688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028688	- Hemophilia A (HEMA) [MIM:306700]	SWISS	224	cd00057	4503647,NP_000123
2157	119767	Disease	p.Leu2185Trp	VAR_028688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028688	- Hemophilia A (HEMA) [MIM:306700]	SWISS	372	smart00231	4503647,NP_000123
2157	119767	Disease	p.Ser2192Ile	VAR_028689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028689	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Cys2193Gly	VAR_017341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017341	- Hemophilia A (HEMA) [MIM:306700]	SWISS	2	smart00231	4503647,NP_000123
2157	119767	Disease	p.Pro2196Arg	VAR_028690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028690	- Hemophilia A (HEMA) [MIM:306700]	SWISS	2	cd00057	4503647,NP_000123
2157	119767	Disease	p.Pro2196Arg	VAR_028690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028690	- Hemophilia A (HEMA) [MIM:306700]	SWISS	9	smart00231	4503647,NP_000123
2157	119767	Disease	p.Gly2198Val	VAR_028691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028691	- Hemophilia A (HEMA) [MIM:306700]	SWISS	4	cd00057	4503647,NP_000123
2157	119767	Disease	p.Gly2198Val	VAR_028691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028691	- Hemophilia A (HEMA) [MIM:306700]	SWISS	11	smart00231	4503647,NP_000123
2157	119767	Disease	p.Glu2200Asp	VAR_028692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028692	- Hemophilia A (HEMA) [MIM:306700]	SWISS	6	cd00057	4503647,NP_000123
2157	119767	Disease	p.Glu2200Asp	VAR_028692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028692	- Hemophilia A (HEMA) [MIM:306700]	SWISS	13	smart00231	4503647,NP_000123
2157	119767	Disease	p.Ile2204Thr	VAR_001197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001197	- Hemophilia A (HEMA) [MIM:306700]	SWISS	10	cd00057	4503647,NP_000123
2157	119767	Disease	p.Ile2204Thr	VAR_001197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001197	- Hemophilia A (HEMA) [MIM:306700]	SWISS	17	smart00231	4503647,NP_000123
2157	119767	Disease	p.Ile2209Asn	VAR_001198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001198	- Hemophilia A (HEMA) [MIM:306700]	SWISS	2	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Ile2209Asn	VAR_001198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001198	- Hemophilia A (HEMA) [MIM:306700]	SWISS	15	cd00057	4503647,NP_000123
2157	119767	Disease	p.Ile2209Asn	VAR_001198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001198	- Hemophilia A (HEMA) [MIM:306700]	SWISS	30	smart00231	4503647,NP_000123
2157	119767	Disease	p.Ala2211Pro	VAR_001199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001199	- Hemophilia A (HEMA) [MIM:306700]	SWISS	4	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Ala2211Pro	VAR_001199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001199	- Hemophilia A (HEMA) [MIM:306700]	SWISS	18	cd00057	4503647,NP_000123
2157	119767	Disease	p.Ala2211Pro	VAR_001199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001199	- Hemophilia A (HEMA) [MIM:306700]	SWISS	34	smart00231	4503647,NP_000123
2157	119767	Disease	p.Ala2220Pro	VAR_028693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028693	- Hemophilia A (HEMA) [MIM:306700]	SWISS	15	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Ala2220Pro	VAR_028693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028693	- Hemophilia A (HEMA) [MIM:306700]	SWISS	29	cd00057	4503647,NP_000123
2157	119767	Disease	p.Ala2220Pro	VAR_028693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028693	- Hemophilia A (HEMA) [MIM:306700]	SWISS	55	smart00231	4503647,NP_000123
2157	119767	Disease	p.Pro2224Leu	VAR_028695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028695	- Hemophilia A (HEMA) [MIM:306700]	SWISS	26	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Pro2224Leu	VAR_028695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028695	- Hemophilia A (HEMA) [MIM:306700]	SWISS	33	cd00057	4503647,NP_000123
2157	119767	Disease	p.Pro2224Leu	VAR_028695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028695	- Hemophilia A (HEMA) [MIM:306700]	SWISS	67	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2228Gly	VAR_001201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001201	- Hemophilia A (HEMA) [MIM:306700]	SWISS	30	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2228Gly	VAR_001201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001201	- Hemophilia A (HEMA) [MIM:306700]	SWISS	39	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2228Gly	VAR_001201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001201	- Hemophilia A (HEMA) [MIM:306700]	SWISS	73	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2228Leu	VAR_001202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001202	- Hemophilia A (HEMA) [MIM:306700]	SWISS	30	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2228Leu	VAR_001202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001202	- Hemophilia A (HEMA) [MIM:306700]	SWISS	39	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2228Leu	VAR_001202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001202	- Hemophilia A (HEMA) [MIM:306700]	SWISS	73	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2228Pro	VAR_028696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028696	- Hemophilia A (HEMA) [MIM:306700]	SWISS	30	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2228Pro	VAR_028696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028696	- Hemophilia A (HEMA) [MIM:306700]	SWISS	39	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2228Pro	VAR_028696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028696	- Hemophilia A (HEMA) [MIM:306700]	SWISS	73	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2228Gln	VAR_001203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001203	- Hemophilia A (HEMA) [MIM:306700]	SWISS	30	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2228Gln	VAR_001203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001203	- Hemophilia A (HEMA) [MIM:306700]	SWISS	39	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2228Gln	VAR_001203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001203	- Hemophilia A (HEMA) [MIM:306700]	SWISS	73	smart00231	4503647,NP_000123
2157	119767	Disease	p.Leu2229Phe	VAR_028697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028697	- Hemophilia A (HEMA) [MIM:306700]	SWISS	31	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Leu2229Phe	VAR_028697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028697	- Hemophilia A (HEMA) [MIM:306700]	SWISS	40	cd00057	4503647,NP_000123
2157	119767	Disease	p.Leu2229Phe	VAR_028697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028697	- Hemophilia A (HEMA) [MIM:306700]	SWISS	76	smart00231	4503647,NP_000123
2157	119767	Disease	p.Trp2248Cys	VAR_001205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001205	- Hemophilia A (HEMA) [MIM:306700]	SWISS	74	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Trp2248Cys	VAR_001205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001205	- Hemophilia A (HEMA) [MIM:306700]	SWISS	72	cd00057	4503647,NP_000123
2157	119767	Disease	p.Trp2248Cys	VAR_001205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001205	- Hemophilia A (HEMA) [MIM:306700]	SWISS	136	smart00231	4503647,NP_000123
2157	119767	Disease	p.Trp2248Ser	VAR_028698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028698	- Hemophilia A (HEMA) [MIM:306700]	SWISS	74	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Trp2248Ser	VAR_028698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028698	- Hemophilia A (HEMA) [MIM:306700]	SWISS	72	cd00057	4503647,NP_000123
2157	119767	Disease	p.Trp2248Ser	VAR_028698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028698	- Hemophilia A (HEMA) [MIM:306700]	SWISS	136	smart00231	4503647,NP_000123
2157	119767	Disease	p.Val2251Ala	VAR_028699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028699	- Hemophilia A (HEMA) [MIM:306700]	SWISS	77	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Val2251Ala	VAR_028699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028699	- Hemophilia A (HEMA) [MIM:306700]	SWISS	75	cd00057	4503647,NP_000123
2157	119767	Disease	p.Val2251Ala	VAR_028699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028699	- Hemophilia A (HEMA) [MIM:306700]	SWISS	144	smart00231	4503647,NP_000123
2157	119767	Disease	p.Val2251Glu	VAR_028700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028700	- Hemophilia A (HEMA) [MIM:306700]	SWISS	77	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Val2251Glu	VAR_028700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028700	- Hemophilia A (HEMA) [MIM:306700]	SWISS	75	cd00057	4503647,NP_000123
2157	119767	Disease	p.Val2251Glu	VAR_028700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028700	- Hemophilia A (HEMA) [MIM:306700]	SWISS	144	smart00231	4503647,NP_000123
2157	119767	Disease	p.Met2257Val	VAR_021356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021356	rs1800297 Hemophilia A (HEMA) [MIM:306700]	SWISS	86	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Met2257Val	VAR_021356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021356	rs1800297 Hemophilia A (HEMA) [MIM:306700]	SWISS	81	cd00057	4503647,NP_000123
2157	119767	Disease	p.Met2257Val	VAR_021356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021356	rs1800297 Hemophilia A (HEMA) [MIM:306700]	SWISS	157	smart00231	4503647,NP_000123
2157	119767	Disease	p.Thr2264Ala	VAR_028701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028701	- Hemophilia A (HEMA) [MIM:306700]	SWISS	93	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Thr2264Ala	VAR_028701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028701	- Hemophilia A (HEMA) [MIM:306700]	SWISS	88	cd00057	4503647,NP_000123
2157	119767	Disease	p.Thr2264Ala	VAR_028701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028701	- Hemophilia A (HEMA) [MIM:306700]	SWISS	168	smart00231	4503647,NP_000123
2157	119767	Disease	p.Gln2265Arg	VAR_001206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001206	- Hemophilia A (HEMA) [MIM:306700]	SWISS	94	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Gln2265Arg	VAR_001206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001206	- Hemophilia A (HEMA) [MIM:306700]	SWISS	89	cd00057	4503647,NP_000123
2157	119767	Disease	p.Gln2265Arg	VAR_001206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001206	- Hemophilia A (HEMA) [MIM:306700]	SWISS	172	smart00231	4503647,NP_000123
2157	119767	Disease	p.Phe2279Cys	VAR_028702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028702	- Hemophilia A (HEMA) [MIM:306700]	SWISS	119	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Phe2279Cys	VAR_028702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028702	- Hemophilia A (HEMA) [MIM:306700]	SWISS	105	cd00057	4503647,NP_000123
2157	119767	Disease	p.Phe2279Cys	VAR_028702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028702	- Hemophilia A (HEMA) [MIM:306700]	SWISS	211	smart00231	4503647,NP_000123
2157	119767	Disease	p.Phe2279Ile	VAR_028703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028703	- Hemophilia A (HEMA) [MIM:306700]	SWISS	119	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Phe2279Ile	VAR_028703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028703	- Hemophilia A (HEMA) [MIM:306700]	SWISS	105	cd00057	4503647,NP_000123
2157	119767	Disease	p.Phe2279Ile	VAR_028703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028703	- Hemophilia A (HEMA) [MIM:306700]	SWISS	211	smart00231	4503647,NP_000123
2157	119767	Disease	p.Ile2281Thr	VAR_028704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028704	- Hemophilia A (HEMA) [MIM:306700]	SWISS	121	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Ile2281Thr	VAR_028704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028704	- Hemophilia A (HEMA) [MIM:306700]	SWISS	107	cd00057	4503647,NP_000123
2157	119767	Disease	p.Ile2281Thr	VAR_028704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028704	- Hemophilia A (HEMA) [MIM:306700]	SWISS	223	smart00231	4503647,NP_000123
2157	119767	Disease	p.Trp2290Leu	VAR_028705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028705	- Hemophilia A (HEMA) [MIM:306700]	SWISS	140	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Trp2290Leu	VAR_028705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028705	- Hemophilia A (HEMA) [MIM:306700]	SWISS	118	cd00057	4503647,NP_000123
2157	119767	Disease	p.Trp2290Leu	VAR_028705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028705	- Hemophilia A (HEMA) [MIM:306700]	SWISS	255	smart00231	4503647,NP_000123
2157	119767	Disease	p.Gly2304Val	VAR_028706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028706	- Hemophilia A (HEMA) [MIM:306700]	SWISS	162	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Gly2304Val	VAR_028706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028706	- Hemophilia A (HEMA) [MIM:306700]	SWISS	181	cd00057	4503647,NP_000123
2157	119767	Disease	p.Gly2304Val	VAR_028706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028706	- Hemophilia A (HEMA) [MIM:306700]	SWISS	302	smart00231	4503647,NP_000123
2157	119767	Disease	p.Asp2307Ala	VAR_015134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015134	- Hemophilia A (HEMA) [MIM:306700]	SWISS	165	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Asp2307Ala	VAR_015134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015134	- Hemophilia A (HEMA) [MIM:306700]	SWISS	184	cd00057	4503647,NP_000123
2157	119767	Disease	p.Asp2307Ala	VAR_015134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015134	- Hemophilia A (HEMA) [MIM:306700]	SWISS	305	smart00231	4503647,NP_000123
2157	119767	Disease	p.Pro2319Leu	VAR_001207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001207	- Hemophilia A (HEMA) [MIM:306700]	SWISS	186	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Pro2319Leu	VAR_001207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001207	- Hemophilia A (HEMA) [MIM:306700]	SWISS	196	cd00057	4503647,NP_000123
2157	119767	Disease	p.Pro2319Leu	VAR_001207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001207	- Hemophilia A (HEMA) [MIM:306700]	SWISS	323	smart00231	4503647,NP_000123
2157	119767	Disease	p.Pro2319Ser	VAR_001208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001208	- Hemophilia A (HEMA) [MIM:306700]	SWISS	186	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Pro2319Ser	VAR_001208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001208	- Hemophilia A (HEMA) [MIM:306700]	SWISS	196	cd00057	4503647,NP_000123
2157	119767	Disease	p.Pro2319Ser	VAR_001208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001208	- Hemophilia A (HEMA) [MIM:306700]	SWISS	323	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2323Cys	VAR_001209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001209	- Hemophilia A (HEMA) [MIM:306700]	SWISS	195	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2323Cys	VAR_001209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001209	- Hemophilia A (HEMA) [MIM:306700]	SWISS	200	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2323Cys	VAR_001209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001209	- Hemophilia A (HEMA) [MIM:306700]	SWISS	329	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2323Gly	VAR_028707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028707	- Hemophilia A (HEMA) [MIM:306700]	SWISS	195	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2323Gly	VAR_028707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028707	- Hemophilia A (HEMA) [MIM:306700]	SWISS	200	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2323Gly	VAR_028707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028707	- Hemophilia A (HEMA) [MIM:306700]	SWISS	329	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2323His	VAR_001210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001210	- Hemophilia A (HEMA) [MIM:306700]	SWISS	195	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2323His	VAR_001210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001210	- Hemophilia A (HEMA) [MIM:306700]	SWISS	200	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2323His	VAR_001210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001210	- Hemophilia A (HEMA) [MIM:306700]	SWISS	329	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2323Leu	VAR_028708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028708	- Hemophilia A (HEMA) [MIM:306700]	SWISS	195	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2323Leu	VAR_028708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028708	- Hemophilia A (HEMA) [MIM:306700]	SWISS	200	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2323Leu	VAR_028708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028708	- Hemophilia A (HEMA) [MIM:306700]	SWISS	329	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2326Gly	VAR_028709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028709	- Hemophilia A (HEMA) [MIM:306700]	SWISS	198	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2326Gly	VAR_028709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028709	- Hemophilia A (HEMA) [MIM:306700]	SWISS	203	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2326Gly	VAR_028709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028709	- Hemophilia A (HEMA) [MIM:306700]	SWISS	332	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2326Leu	VAR_001211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001211	- Hemophilia A (HEMA) [MIM:306700]	SWISS	198	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2326Leu	VAR_001211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001211	- Hemophilia A (HEMA) [MIM:306700]	SWISS	203	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2326Leu	VAR_001211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001211	- Hemophilia A (HEMA) [MIM:306700]	SWISS	332	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2326Pro	VAR_028710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028710	- Hemophilia A (HEMA) [MIM:306700]	SWISS	198	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2326Pro	VAR_028710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028710	- Hemophilia A (HEMA) [MIM:306700]	SWISS	203	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2326Pro	VAR_028710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028710	- Hemophilia A (HEMA) [MIM:306700]	SWISS	332	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2326Gln	VAR_001212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001212	- Hemophilia A (HEMA) [MIM:306700]	SWISS	198	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2326Gln	VAR_001212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001212	- Hemophilia A (HEMA) [MIM:306700]	SWISS	203	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2326Gln	VAR_001212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001212	- Hemophilia A (HEMA) [MIM:306700]	SWISS	332	smart00231	4503647,NP_000123
2157	119767	Disease	p.Gln2330Pro	VAR_028711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028711	- Hemophilia A (HEMA) [MIM:306700]	SWISS	202	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Gln2330Pro	VAR_028711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028711	- Hemophilia A (HEMA) [MIM:306700]	SWISS	207	cd00057	4503647,NP_000123
2157	119767	Disease	p.Gln2330Pro	VAR_028711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028711	- Hemophilia A (HEMA) [MIM:306700]	SWISS	337	smart00231	4503647,NP_000123
2157	119767	Disease	p.Trp2332Arg	VAR_028712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028712	- Hemophilia A (HEMA) [MIM:306700]	SWISS	214	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Trp2332Arg	VAR_028712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028712	- Hemophilia A (HEMA) [MIM:306700]	SWISS	209	cd00057	4503647,NP_000123
2157	119767	Disease	p.Trp2332Arg	VAR_028712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028712	- Hemophilia A (HEMA) [MIM:306700]	SWISS	348	smart00231	4503647,NP_000123
2157	119767	Disease	p.Arg2339Thr	VAR_028713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028713	- Hemophilia A (HEMA) [MIM:306700]	SWISS	223	pfam00754	4503647,NP_000123
2157	119767	Disease	p.Arg2339Thr	VAR_028713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028713	- Hemophilia A (HEMA) [MIM:306700]	SWISS	221	cd00057	4503647,NP_000123
2157	119767	Disease	p.Arg2339Thr	VAR_028713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028713	- Hemophilia A (HEMA) [MIM:306700]	SWISS	368	smart00231	4503647,NP_000123
2157	119767	Disease	p.Gly2344Cys	VAR_008968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008968	- Hemophilia A (HEMA) [MIM:306700]	SWISS	374	smart00231	4503647,NP_000123
2157	119767	Disease	p.Gly2344Ser	VAR_028714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028714	- Hemophilia A (HEMA) [MIM:306700]	SWISS	374	smart00231	4503647,NP_000123
2157	119767	Disease	p.Cys2345Ser	VAR_028715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028715	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2157	119767	Disease	p.Cys2345Tyr	VAR_028716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028716	- Hemophilia A (HEMA) [MIM:306700]	SWISS	No Domain	N/A	4503647,NP_000123
2158	67476446	Disease	p.Ile17Asn	VAR_006521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006521	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Cys28Arg	VAR_006522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006522	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Cys28Tyr	VAR_017343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017343	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Val30Ile	VAR_006523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006523	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	3	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Arg43Leu	VAR_006525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006525	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	16	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Arg43Gln	VAR_006524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006524	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	16	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Arg43Trp	VAR_006526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006526	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	16	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Lys45Asn	VAR_006527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006527	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	21	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Arg46Ser	VAR_006528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006528	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	22	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Arg46Thr	VAR_006529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006529	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	22	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Asn48Ile	VAR_006530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006530	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	24	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Ser49Pro	VAR_006531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006531	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	25	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Leu52Ser	VAR_017344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017344	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	28	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Glu53Ala	VAR_006532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006532	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	29	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Glu53Ala	VAR_006532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006532	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	2	pfam00594	4503649,NP_000124
2158	67476446	Disease	p.Glu54Gly	VAR_006533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006533	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	30	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Glu54Gly	VAR_006533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006533	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	3	pfam00594	4503649,NP_000124
2158	67476446	Disease	p.Phe55Cys	VAR_006534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006534	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	31	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Phe55Cys	VAR_006534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006534	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	4	pfam00594	4503649,NP_000124
2158	67476446	Disease	p.Gly58Ala	VAR_006535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006535	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	34	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Gly58Ala	VAR_006535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006535	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	7	pfam00594	4503649,NP_000124
2158	67476446	Disease	p.Gly58Arg	VAR_006536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006536	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	34	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Gly58Arg	VAR_006536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006536	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	7	pfam00594	4503649,NP_000124
2158	67476446	Disease	p.Glu66Val	VAR_006538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006538	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	43	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Glu66Val	VAR_006538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006538	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	15	pfam00594	4503649,NP_000124
2158	67476446	Disease	p.Glu67Lys	VAR_006539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006539	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	44	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Glu67Lys	VAR_006539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006539	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	16	pfam00594	4503649,NP_000124
2158	67476446	Disease	p.Phe71Ser	VAR_006540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006540	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	48	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Phe71Ser	VAR_006540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006540	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	20	pfam00594	4503649,NP_000124
2158	67476446	Disease	p.Glu73Lys	VAR_006541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006541	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	50	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Glu73Lys	VAR_006541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006541	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	22	pfam00594	4503649,NP_000124
2158	67476446	Disease	p.Glu73Val	VAR_006542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006542	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	50	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Glu73Val	VAR_006542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006542	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	22	pfam00594	4503649,NP_000124
2158	67476446	Disease	p.Arg75Gln	VAR_017308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017308	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	52	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Arg75Gln	VAR_017308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017308	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	24	pfam00594	4503649,NP_000124
2158	67476446	Disease	p.Glu79Asp	VAR_017309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017309	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	56	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Glu79Asp	VAR_017309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017309	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	28	pfam00594	4503649,NP_000124
2158	67476446	Disease	p.Thr84Arg	VAR_017345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017345	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	61	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Thr84Arg	VAR_017345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017345	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	33	pfam00594	4503649,NP_000124
2158	67476446	Disease	p.Tyr91Cys	VAR_006543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006543	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	68	smart00069	4503649,NP_000124
2158	67476446	Disease	p.Tyr91Cys	VAR_006543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006543	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	40	pfam00594	4503649,NP_000124
2158	67476446	Disease	p.Asp93Gly	VAR_006544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006544	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Gln96Pro	VAR_006545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006545	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	4	cd00054	4503649,NP_000124
2158	67476446	Disease	p.Gln96Pro	VAR_006545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006545	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	4	smart00179	4503649,NP_000124
2158	67476446	Disease	p.Cys97Ser	VAR_006546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006546	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	5	cd00054	4503649,NP_000124
2158	67476446	Disease	p.Cys97Ser	VAR_006546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006546	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	5	smart00179	4503649,NP_000124
2158	67476446	Disease	p.Cys97Ser	VAR_006546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006546	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	2	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Cys97Ser	VAR_006546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006546	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	2	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Pro101Arg	VAR_006547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006547	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	9	pfam00008	4503649,NP_000124
2158	67476446	Disease	p.Pro101Arg	VAR_006547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006547	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	24	cd00054	4503649,NP_000124
2158	67476446	Disease	p.Pro101Arg	VAR_006547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006547	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	24	smart00179	4503649,NP_000124
2158	67476446	Disease	p.Pro101Arg	VAR_006547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006547	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	16	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Pro101Arg	VAR_006547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006547	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	18	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Cys102Arg	VAR_006548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006548	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	10	pfam00008	4503649,NP_000124
2158	67476446	Disease	p.Cys102Arg	VAR_006548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006548	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	25	cd00054	4503649,NP_000124
2158	67476446	Disease	p.Cys102Arg	VAR_006548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006548	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	25	smart00179	4503649,NP_000124
2158	67476446	Disease	p.Cys102Arg	VAR_006548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006548	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	17	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Cys102Arg	VAR_006548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006548	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	19	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Gly106Asp	VAR_017346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017346	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	16	pfam00008	4503649,NP_000124
2158	67476446	Disease	p.Gly106Asp	VAR_017346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017346	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	34	cd00054	4503649,NP_000124
2158	67476446	Disease	p.Gly106Asp	VAR_017346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017346	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	29	smart00179	4503649,NP_000124
2158	67476446	Disease	p.Gly106Asp	VAR_017346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017346	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	21	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Gly106Asp	VAR_017346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017346	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	26	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Gly106Ser	VAR_006549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006549	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	16	pfam00008	4503649,NP_000124
2158	67476446	Disease	p.Gly106Ser	VAR_006549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006549	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	34	cd00054	4503649,NP_000124
2158	67476446	Disease	p.Gly106Ser	VAR_006549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006549	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	29	smart00179	4503649,NP_000124
2158	67476446	Disease	p.Gly106Ser	VAR_006549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006549	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	21	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Gly106Ser	VAR_006549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006549	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	26	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Cys108Ser	VAR_006550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006550	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	18	pfam00008	4503649,NP_000124
2158	67476446	Disease	p.Cys108Ser	VAR_006550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006550	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	36	cd00054	4503649,NP_000124
2158	67476446	Disease	p.Cys108Ser	VAR_006550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006550	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	34	smart00179	4503649,NP_000124
2158	67476446	Disease	p.Cys108Ser	VAR_006550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006550	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	27	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Cys108Ser	VAR_006550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006550	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	28	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Asp110Asn	VAR_006551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006551	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	20	pfam00008	4503649,NP_000124
2158	67476446	Disease	p.Asp110Asn	VAR_006551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006551	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	38	cd00054	4503649,NP_000124
2158	67476446	Disease	p.Asp110Asn	VAR_006551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006551	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	36	smart00179	4503649,NP_000124
2158	67476446	Disease	p.Asp110Asn	VAR_006551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006551	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	29	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Asp110Asn	VAR_006551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006551	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	30	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Ile112Ser	VAR_006552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006552	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	22	pfam00008	4503649,NP_000124
2158	67476446	Disease	p.Ile112Ser	VAR_006552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006552	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	40	cd00054	4503649,NP_000124
2158	67476446	Disease	p.Ile112Ser	VAR_006552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006552	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	43	smart00179	4503649,NP_000124
2158	67476446	Disease	p.Ile112Ser	VAR_006552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006552	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	45	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Ile112Ser	VAR_006552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006552	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	32	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Asn113Lys	VAR_006553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006553	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	31	pfam00008	4503649,NP_000124
2158	67476446	Disease	p.Asn113Lys	VAR_006553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006553	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	49	cd00054	4503649,NP_000124
2158	67476446	Disease	p.Asn113Lys	VAR_006553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006553	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	44	smart00179	4503649,NP_000124
2158	67476446	Disease	p.Asn113Lys	VAR_006553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006553	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	46	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Asn113Lys	VAR_006553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006553	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	47	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Tyr115Cys	VAR_006554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006554	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	33	pfam00008	4503649,NP_000124
2158	67476446	Disease	p.Tyr115Cys	VAR_006554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006554	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	51	cd00054	4503649,NP_000124
2158	67476446	Disease	p.Tyr115Cys	VAR_006554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006554	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	46	smart00179	4503649,NP_000124
2158	67476446	Disease	p.Tyr115Cys	VAR_006554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006554	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	48	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Tyr115Cys	VAR_006554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006554	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	49	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Cys119Phe	VAR_006555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006555	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	37	pfam00008	4503649,NP_000124
2158	67476446	Disease	p.Cys119Phe	VAR_006555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006555	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	60	cd00054	4503649,NP_000124
2158	67476446	Disease	p.Cys119Phe	VAR_006555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006555	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	55	smart00179	4503649,NP_000124
2158	67476446	Disease	p.Cys119Phe	VAR_006555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006555	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	57	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Cys119Phe	VAR_006555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006555	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	58	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Cys119Arg	VAR_006556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006556	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	37	pfam00008	4503649,NP_000124
2158	67476446	Disease	p.Cys119Arg	VAR_006556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006556	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	60	cd00054	4503649,NP_000124
2158	67476446	Disease	p.Cys119Arg	VAR_006556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006556	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	55	smart00179	4503649,NP_000124
2158	67476446	Disease	p.Cys119Arg	VAR_006556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006556	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	57	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Cys119Arg	VAR_006556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006556	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	58	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Glu124Lys	VAR_017347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017347	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	47	pfam00008	4503649,NP_000124
2158	67476446	Disease	p.Glu124Lys	VAR_017347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017347	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	70	cd00054	4503649,NP_000124
2158	67476446	Disease	p.Glu124Lys	VAR_017347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017347	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	64	smart00179	4503649,NP_000124
2158	67476446	Disease	p.Glu124Lys	VAR_017347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017347	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	67	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Glu124Lys	VAR_017347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017347	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	66	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Gly125Glu	VAR_006557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006557	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	48	pfam00008	4503649,NP_000124
2158	67476446	Disease	p.Gly125Glu	VAR_006557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006557	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	71	cd00054	4503649,NP_000124
2158	67476446	Disease	p.Gly125Glu	VAR_006557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006557	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	80	smart00179	4503649,NP_000124
2158	67476446	Disease	p.Gly125Glu	VAR_006557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006557	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	68	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Gly125Glu	VAR_006557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006557	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	67	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Gly125Arg	VAR_017348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017348	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	48	pfam00008	4503649,NP_000124
2158	67476446	Disease	p.Gly125Arg	VAR_017348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017348	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	71	cd00054	4503649,NP_000124
2158	67476446	Disease	p.Gly125Arg	VAR_017348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017348	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	80	smart00179	4503649,NP_000124
2158	67476446	Disease	p.Gly125Arg	VAR_017348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017348	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	68	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Gly125Arg	VAR_017348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017348	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	67	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Gly125Val	VAR_006558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006558	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	48	pfam00008	4503649,NP_000124
2158	67476446	Disease	p.Gly125Val	VAR_006558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006558	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	71	cd00054	4503649,NP_000124
2158	67476446	Disease	p.Gly125Val	VAR_006558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006558	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	80	smart00179	4503649,NP_000124
2158	67476446	Disease	p.Gly125Val	VAR_006558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006558	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	68	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Gly125Val	VAR_006558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006558	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	67	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Cys134Tyr	VAR_017349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017349	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	2	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Cys134Tyr	VAR_017349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017349	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	2	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Ile136Thr	VAR_006560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006560	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	4	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Ile136Thr	VAR_006560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006560	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	4	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Gly139Asp	VAR_006561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006561	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	15	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Gly139Asp	VAR_006561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006561	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	17	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Gly139Ser	VAR_006562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006562	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	15	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Gly139Ser	VAR_006562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006562	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	17	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Cys155Phe	VAR_006563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006563	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	50	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Cys155Phe	VAR_006563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006563	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	51	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Gly160Glu	VAR_006564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006564	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	64	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Gly160Glu	VAR_006564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006564	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	64	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Gln167His	VAR_006565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006565	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	79	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Gln167His	VAR_006565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006565	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	82	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Ser169Cys	VAR_017350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017350	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	81	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Ser169Cys	VAR_017350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017350	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	84	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Cys170Phe	VAR_017351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017351	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	82	smart00181	4503649,NP_000124
2158	67476446	Disease	p.Cys170Phe	VAR_017351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017351	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	85	cd00053	4503649,NP_000124
2158	67476446	Disease	p.Cys178Arg	VAR_006566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006566	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Cys178Trp	VAR_006567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006567	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Arg191Cys	VAR_006569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006569	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Arg191His	VAR_006568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006568	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Arg226Gly	VAR_006571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006571	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Arg226Gln	VAR_006572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006572	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Arg226Trp	VAR_006570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006570	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	No Domain	N/A	4503649,NP_000124
2158	67476446	Disease	p.Val227Asp	VAR_006573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006573	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	2	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Val227Phe	VAR_017310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017310	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	2	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Val228Phe	VAR_017311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017311	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	2	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Val228Phe	VAR_017311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017311	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	2	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Val228Phe	VAR_017311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017311	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	3	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Val228Leu	VAR_006574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006574	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	2	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Val228Leu	VAR_006574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006574	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	2	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Val228Leu	VAR_006574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006574	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	3	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Gln241His	VAR_006575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006575	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	19	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Gln241His	VAR_006575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006575	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	19	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Gln241His	VAR_006575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006575	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	22	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Gln241Lys	VAR_017352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017352	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	19	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Gln241Lys	VAR_017352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017352	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	19	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Gln241Lys	VAR_017352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017352	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	22	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Cys252Ser	VAR_017312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017312	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	44	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Cys252Ser	VAR_017312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017312	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	39	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Cys252Ser	VAR_017312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017312	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	50	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Cys252Tyr	VAR_017353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017353	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	44	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Cys252Tyr	VAR_017353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017353	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	39	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Cys252Tyr	VAR_017353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017353	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	50	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Gly253Glu	VAR_006576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006576	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	45	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Gly253Glu	VAR_006576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006576	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	40	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Gly253Glu	VAR_006576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006576	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	51	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Gly253Arg	VAR_006577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006577	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	45	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Gly253Arg	VAR_006577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006577	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	40	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Gly253Arg	VAR_006577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006577	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	51	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ala265Thr	VAR_006578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006578	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	58	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ala265Thr	VAR_006578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006578	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	55	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ala265Thr	VAR_006578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006578	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	64	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Cys268Trp	VAR_017313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017313	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	61	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Cys268Trp	VAR_017313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017313	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	58	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Cys268Trp	VAR_017313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017313	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	67	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ala279Thr	VAR_006579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006579	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	90	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ala279Thr	VAR_006579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006579	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	90	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ala279Thr	VAR_006579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006579	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	101	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Asn283Asp	VAR_006580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006580	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	94	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Asn283Asp	VAR_006580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006580	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	95	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Asn283Asp	VAR_006580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006580	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	105	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Glu291Val	VAR_017314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017314	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	115	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Glu291Val	VAR_017314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017314	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	103	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Glu291Val	VAR_017314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017314	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	121	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Arg294Gly	VAR_006582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006582	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	118	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Arg294Gly	VAR_006582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006582	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	111	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Arg294Gly	VAR_006582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006582	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	177	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Arg294Gln	VAR_006583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006583	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	118	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Arg294Gln	VAR_006583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006583	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	111	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Arg294Gln	VAR_006583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006583	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	177	smart00020	4503649,NP_000124
2158	67476446	Disease	p.His302Arg	VAR_006584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006584	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	128	cd00190	4503649,NP_000124
2158	67476446	Disease	p.His302Arg	VAR_006584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006584	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	121	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.His302Arg	VAR_006584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006584	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	190	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Asn306Ser	VAR_017315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017315	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	132	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Asn306Ser	VAR_017315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017315	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	125	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Asn306Ser	VAR_017315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017315	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	202	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ile316Phe	VAR_006585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006585	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	151	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ile316Phe	VAR_006585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006585	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	144	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ile316Phe	VAR_006585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006585	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	251	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Leu318Arg	VAR_017354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017354	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	153	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Leu318Arg	VAR_017354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017354	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	146	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Leu318Arg	VAR_017354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017354	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	260	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Leu321Gln	VAR_006586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006586	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	156	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Leu321Gln	VAR_006586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006586	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	149	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Leu321Gln	VAR_006586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006586	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	263	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Pro333His	VAR_006587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006587	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	180	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Pro333His	VAR_006587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006587	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	169	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Pro333His	VAR_006587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006587	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	293	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Pro333Thr	VAR_017355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017355	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	180	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Pro333Thr	VAR_017355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017355	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	169	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Pro333Thr	VAR_017355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017355	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	293	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Thr342Lys	VAR_006588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006588	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	189	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Thr342Lys	VAR_006588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006588	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	180	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Thr342Lys	VAR_006588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006588	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	334	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Thr342Met	VAR_006589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006589	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	189	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Thr342Met	VAR_006589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006589	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	180	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Thr342Met	VAR_006589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006589	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	334	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ile344Leu	VAR_017356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017356	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	214	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ile344Leu	VAR_017356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017356	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	182	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ile344Leu	VAR_017356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017356	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	340	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Gly351Asp	VAR_006590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006590	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	222	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Gly351Asp	VAR_006590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006590	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	190	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Gly351Asp	VAR_006590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006590	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	349	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Trp356Cys	VAR_006591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006591	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	227	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Trp356Cys	VAR_006591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006591	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	195	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Trp356Cys	VAR_006591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006591	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	360	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Gly357Glu	VAR_006592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006592	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	228	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Gly357Glu	VAR_006592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006592	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	196	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Gly357Glu	VAR_006592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006592	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	361	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Gly357Arg	VAR_017316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017316	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	228	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Gly357Arg	VAR_017316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017316	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	196	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Gly357Arg	VAR_017316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017316	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	361	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Lys362Glu	VAR_006593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006593	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	233	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Lys362Glu	VAR_006593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006593	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	204	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Lys362Glu	VAR_006593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006593	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	368	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Gly363Trp	VAR_006594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006594	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	253	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Gly363Trp	VAR_006594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006594	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	205	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Gly363Trp	VAR_006594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006594	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	378	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ala366Asp	VAR_006595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006595	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	256	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ala366Asp	VAR_006595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006595	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	214	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ala366Asp	VAR_006595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006595	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	384	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Arg379Gly	VAR_006596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006596	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	269	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Arg379Gly	VAR_006596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006596	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	227	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Arg379Gly	VAR_006596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006596	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	405	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Arg379Gln	VAR_006597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006597	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	269	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Arg379Gln	VAR_006597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006597	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	227	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Arg379Gln	VAR_006597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006597	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	405	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Cys382Tyr	VAR_006598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006598	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	273	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Cys382Tyr	VAR_006598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006598	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	231	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Cys382Tyr	VAR_006598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006598	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	411	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Leu383Phe	VAR_017358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017358	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	274	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Leu383Phe	VAR_017358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017358	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	232	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Leu383Phe	VAR_017358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017358	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	415	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Leu383Ile	VAR_017357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017357	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	274	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Leu383Ile	VAR_017357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017357	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	232	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Leu383Ile	VAR_017357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017357	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	415	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Arg384Leu	VAR_062999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062999	- Thrombophilia due to factor IX defect (THR-FIX) [MIM:300807]	SWISS	275	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Arg384Leu	VAR_062999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062999	- Thrombophilia due to factor IX defect (THR-FIX) [MIM:300807]	SWISS	233	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Arg384Leu	VAR_062999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062999	- Thrombophilia due to factor IX defect (THR-FIX) [MIM:300807]	SWISS	416	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Lys387Glu	VAR_006599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006599	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	278	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Lys387Glu	VAR_006599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006599	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	239	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Lys387Glu	VAR_006599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006599	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	429	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ile390Phe	VAR_006600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006600	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	304	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ile390Phe	VAR_006600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006600	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	257	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ile390Phe	VAR_006600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006600	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	457	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Met394Lys	VAR_006601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006601	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	308	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Met394Lys	VAR_006601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006601	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	261	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Met394Lys	VAR_006601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006601	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	461	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Phe395Ile	VAR_017359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017359	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	309	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Phe395Ile	VAR_017359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017359	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	262	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Phe395Ile	VAR_017359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017359	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	462	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Phe395Leu	VAR_017360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017360	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	309	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Phe395Leu	VAR_017360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017360	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	262	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Phe395Leu	VAR_017360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017360	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	462	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Cys396Phe	VAR_017361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017361	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	310	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Cys396Phe	VAR_017361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017361	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	263	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Cys396Phe	VAR_017361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017361	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	463	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Cys396Ser	VAR_006602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006602	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	310	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Cys396Ser	VAR_006602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006602	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	263	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Cys396Ser	VAR_006602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006602	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	463	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ala397Pro	VAR_017317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017317	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	311	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ala397Pro	VAR_017317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017317	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	264	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ala397Pro	VAR_017317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017317	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	464	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Arg404Thr	VAR_006603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006603	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	324	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Arg404Thr	VAR_006603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006603	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	278	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Arg404Thr	VAR_006603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006603	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	478	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Cys407Arg	VAR_017362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017362	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	327	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Cys407Arg	VAR_017362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017362	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	281	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Cys407Arg	VAR_017362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017362	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	481	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Cys407Ser	VAR_006604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006604	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	327	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Cys407Ser	VAR_006604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006604	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	281	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Cys407Ser	VAR_006604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006604	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	481	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Asp410His	VAR_017318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017318	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	353	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Asp410His	VAR_017318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017318	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	284	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Asp410His	VAR_017318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017318	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	493	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ser411Gly	VAR_017320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017320	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	354	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ser411Gly	VAR_017320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017320	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	285	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ser411Gly	VAR_017320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017320	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	494	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ser411Ile	VAR_017319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017319	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	354	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ser411Ile	VAR_017319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017319	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	285	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ser411Ile	VAR_017319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017319	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	494	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Gly412Glu	VAR_017363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017363	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	355	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Gly412Glu	VAR_017363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017363	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	286	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Gly412Glu	VAR_017363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017363	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	495	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Gly413Arg	VAR_006605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006605	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	356	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Gly413Arg	VAR_006605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006605	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	287	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Gly413Arg	VAR_006605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006605	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	496	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Pro414Thr	VAR_017321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017321	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	357	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Pro414Thr	VAR_017321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017321	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	288	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Pro414Thr	VAR_017321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017321	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	497	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Val419Glu	VAR_006606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006606	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	362	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Val419Glu	VAR_006606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006606	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	293	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Val419Glu	VAR_006606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006606	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	506	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Phe424Val	VAR_006607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006607	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	371	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Phe424Val	VAR_006607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006607	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	302	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Phe424Val	VAR_006607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006607	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	523	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Thr426Pro	VAR_006608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006608	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	373	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Thr426Pro	VAR_006608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006608	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	304	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Thr426Pro	VAR_006608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006608	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	525	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ser430Thr	VAR_006609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006609	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	377	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ser430Thr	VAR_006609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006609	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	308	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ser430Thr	VAR_006609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006609	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	529	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Trp431Gly	VAR_006610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006610	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	378	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Trp431Gly	VAR_006610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006610	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	313	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Trp431Gly	VAR_006610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006610	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	530	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Trp431Arg	VAR_006611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006611	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	378	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Trp431Arg	VAR_006611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006611	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	313	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Trp431Arg	VAR_006611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006611	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	530	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Gly432Ser	VAR_006612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006612	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	379	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Gly432Ser	VAR_006612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006612	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	314	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Gly432Ser	VAR_006612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006612	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	533	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Gly432Val	VAR_006613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006613	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	379	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Gly432Val	VAR_006613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006613	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	314	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Gly432Val	VAR_006613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006613	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	533	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Glu433Ala	VAR_006614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006614	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	380	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Glu433Ala	VAR_006614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006614	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	317	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Glu433Ala	VAR_006614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006614	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	534	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Glu433Lys	VAR_006615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006615	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	380	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Glu433Lys	VAR_006615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006615	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	317	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Glu433Lys	VAR_006615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006615	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	534	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Cys435Tyr	VAR_017364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017364	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	388	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Cys435Tyr	VAR_017364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017364	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	319	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Cys435Tyr	VAR_017364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017364	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	542	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ala436Val	VAR_006616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006616	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	389	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ala436Val	VAR_006616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006616	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	320	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ala436Val	VAR_006616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006616	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	543	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Gly442Glu	VAR_017365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017365	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	409	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Gly442Glu	VAR_017365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017365	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	330	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Gly442Glu	VAR_017365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017365	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	561	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Gly442Arg	VAR_017322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017322	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	409	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Gly442Arg	VAR_017322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017322	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	330	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Gly442Arg	VAR_017322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017322	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	561	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ile443Thr	VAR_017323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017323	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	410	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Ile443Thr	VAR_017323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017323	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	331	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Ile443Thr	VAR_017323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017323	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	562	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Arg449Gln	VAR_006618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006618	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	418	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Arg449Gln	VAR_006618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006618	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	342	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Arg449Gln	VAR_006618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006618	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	570	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Arg449Trp	VAR_006619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006619	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	418	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Arg449Trp	VAR_006619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006619	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	342	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Arg449Trp	VAR_006619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006619	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	570	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Tyr450Cys	VAR_006620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006620	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	419	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Tyr450Cys	VAR_006620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006620	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	343	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Tyr450Cys	VAR_006620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006620	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	571	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Trp453Arg	VAR_017324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017324	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	422	cd00190	4503649,NP_000124
2158	67476446	Disease	p.Trp453Arg	VAR_017324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017324	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	346	pfam00089	4503649,NP_000124
2158	67476446	Disease	p.Trp453Arg	VAR_017324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017324	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	574	smart00020	4503649,NP_000124
2158	67476446	Disease	p.Ile454Thr	VAR_006621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006621	- Recessive X-linked hemophilia B (HEMB) [MIM:306900]	SWISS	423	cd00190	4503649,NP_000124
79152	74749893	Disease	p.Asp35Tyr	VAR_054893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054893	- Leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia (DLDSP) [MIM:612443]	SWISS	37	pfam00173	205360949,NP_077282
2184	119778	Disease	p.Asn16Ile	VAR_005205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005205	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	2	pfam09298	4557587,NP_000128
2184	119778	Disease	p.Phe62Cys	VAR_005206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005206	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	23	COG0179	4557587,NP_000128
2184	119778	Disease	p.Phe62Cys	VAR_005206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005206	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	90	pfam09298	4557587,NP_000128
2184	119778	Disease	p.Gln64His	VAR_005207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005207	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	25	COG0179	4557587,NP_000128
2184	119778	Disease	p.Gln64His	VAR_005207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005207	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	92	pfam09298	4557587,NP_000128
2184	119778	Disease	p.Ala134Asp	VAR_005208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005208	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	32	pfam01557	4557587,NP_000128
2184	119778	Disease	p.Ala134Asp	VAR_005208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005208	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	105	COG0179	4557587,NP_000128
2184	119778	Disease	p.Gly158Asp	VAR_005209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005209	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	137	pfam01557	4557587,NP_000128
2184	119778	Disease	p.Gly158Asp	VAR_005209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005209	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	131	COG0179	4557587,NP_000128
2184	119778	Disease	p.Val166Gly	VAR_005210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005210	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	145	pfam01557	4557587,NP_000128
2184	119778	Disease	p.Val166Gly	VAR_005210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005210	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	139	COG0179	4557587,NP_000128
2184	119778	Disease	p.Cys193Arg	VAR_005211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005211	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	225	pfam01557	4557587,NP_000128
2184	119778	Disease	p.Cys193Arg	VAR_005211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005211	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	181	COG0179	4557587,NP_000128
2184	119778	Disease	p.Gly207Asp	VAR_005212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005212	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	255	pfam01557	4557587,NP_000128
2184	119778	Disease	p.Gly207Asp	VAR_005212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005212	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	195	COG0179	4557587,NP_000128
2184	119778	Disease	p.Asp233Val	VAR_005213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005213	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	297	pfam01557	4557587,NP_000128
2184	119778	Disease	p.Asp233Val	VAR_005213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005213	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	221	COG0179	4557587,NP_000128
2184	119778	Disease	p.Trp234Gly	VAR_005214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005214	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	298	pfam01557	4557587,NP_000128
2184	119778	Disease	p.Trp234Gly	VAR_005214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005214	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	222	COG0179	4557587,NP_000128
2184	119778	Disease	p.Pro249Thr	VAR_005215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005215	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	334	pfam01557	4557587,NP_000128
2184	119778	Disease	p.Pro249Thr	VAR_005215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005215	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	251	COG0179	4557587,NP_000128
2184	119778	Disease	p.Pro261Leu	VAR_005216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005216	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	366	pfam01557	4557587,NP_000128
2184	119778	Disease	p.Pro261Leu	VAR_005216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005216	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	265	COG0179	4557587,NP_000128
2184	119778	Disease	p.Thr294Pro	VAR_005217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005217	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	414	pfam01557	4557587,NP_000128
2184	119778	Disease	p.Thr294Pro	VAR_005217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005217	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	301	COG0179	4557587,NP_000128
2184	119778	Disease	p.Gly337Ser	VAR_005218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005218	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	538	pfam01557	4557587,NP_000128
2184	119778	Disease	p.Gly337Ser	VAR_005218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005218	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	351	COG0179	4557587,NP_000128
2184	119778	Disease	p.Arg341Trp	VAR_005219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005219	rs11555096 Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	553	pfam01557	4557587,NP_000128
2184	119778	Disease	p.Arg341Trp	VAR_005219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005219	rs11555096 Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	355	COG0179	4557587,NP_000128
2184	119778	Disease	p.Pro342Leu	VAR_005220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005220	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	554	pfam01557	4557587,NP_000128
2184	119778	Disease	p.Pro342Leu	VAR_005220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005220	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	356	COG0179	4557587,NP_000128
2184	119778	Disease	p.Gly369Val	VAR_005222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005222	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	606	pfam01557	4557587,NP_000128
2184	119778	Disease	p.Gly369Val	VAR_005222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005222	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	392	COG0179	4557587,NP_000128
2184	119778	Disease	p.Arg381Gly	VAR_005223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005223	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	672	pfam01557	4557587,NP_000128
2184	119778	Disease	p.Arg381Gly	VAR_005223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005223	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	404	COG0179	4557587,NP_000128
2184	119778	Disease	p.Phe405His	VAR_005224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005224	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	726	pfam01557	4557587,NP_000128
2184	119778	Disease	p.Phe405His	VAR_005224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005224	- Tyrosinemia type 1 (TYRO1) [MIM:276700]	SWISS	429	COG0179	4557587,NP_000128
84668	77416421	Disease	p.Leu53Pro	VAR_030647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030647	- Leukodystrophy hypomyelinating type 5 (HLD5) [MIM:610532]	SWISS	37	pfam09790	19923646,NP_115970
56975	34921806	Disease	p.Gly365Glu	VAR_037530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037530	- Raine syndrome (RNS) [MIM:259775]	SWISS	41	pfam06702	NULL
56975	34921806	Disease	p.Gly365Arg	VAR_037531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037531	- Raine syndrome (RNS) [MIM:259775]	SWISS	41	pfam06702	NULL
56975	34921806	Disease	p.Leu374Arg	VAR_037532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037532	- Raine syndrome (RNS) [MIM:259775]	SWISS	52	pfam06702	NULL
56975	34921806	Disease	p.Arg535Trp	VAR_037533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037533	- Raine syndrome (RNS) [MIM:259775]	SWISS	310	pfam06702	NULL
2175	147744560	Disease	p.Asn8Lys	VAR_009638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009638	- Fanconi anemia (FA) [MIM:227650]	SWISS	8	pfam03511	66880553,NP_000126
2175	147744560	Disease	p.Ala181Val	VAR_009639	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009639	rs17232246 Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Leu210Arg	VAR_038012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038012	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Leu244Phe	VAR_009640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009640	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Asp252Gly	VAR_009641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009641	rs17225943 Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Arg435Cys	VAR_009642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009642	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.His492Arg	VAR_009643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009643	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Asp598Asn	VAR_017497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017497	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Leu660Pro	VAR_038013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038013	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Leu817Pro	VAR_009647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009647	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Tyr843Asp	VAR_038015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038015	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Leu845Pro	VAR_009648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009648	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Ser858Arg	VAR_017498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017498	rs17233141 Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Gln869Pro	VAR_038016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038016	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Arg1055Leu	VAR_009649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009649	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Arg1055Trp	VAR_017499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017499	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Leu1082Pro	VAR_017500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017500	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Ser1088Phe	VAR_017501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017501	rs17233497 Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.His1110Pro	VAR_009650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009650	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Arg1117Gly	VAR_009651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009651	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Gln1128Glu	VAR_009652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009652	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Thr1131Ala	VAR_009653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009653	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Leu1249Pro	VAR_038019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038019	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Phe1262Leu	VAR_017502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017502	- Fanconi anemia (FA) [MIM:227650]	SWISS	10	pfam03511	66880553,NP_000126
2175	147744560	Disease	p.Trp1302Arg	VAR_009656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009656	- Fanconi anemia (FA) [MIM:227650]	SWISS	50	pfam03511	66880553,NP_000126
2175	147744560	Disease	p.Pro1324Leu	VAR_017505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017505	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Ala1346Thr	VAR_038020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038020	rs17227396 Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Asp1359Tyr	VAR_017503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017503	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Met1360Ile	VAR_017504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017504	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.Arg1400His	VAR_038021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038021	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2175	147744560	Disease	p.His1417Asp	VAR_009658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009658	rs17227403 Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	66880553,NP_000126
2176	1706762	Disease	p.Asp195Val	VAR_005228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005228	rs1800365 Fanconi anemia (FA) [MIM:227650]	SWISS	199	pfam02106	56118236,NP_000127
2176	1706762	Disease	p.Leu496Arg	VAR_005232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005232	- Fanconi anemia (FA) [MIM:227650]	SWISS	506	pfam02106	56118236,NP_000127
2176	1706762	Disease	p.Leu554Pro	VAR_005233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005233	- Fanconi anemia (FA) [MIM:227650]	SWISS	564	pfam02106	56118236,NP_000127
2177	67461071	Disease	p.Ser126Gly	VAR_022559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022559	- Fanconi anemia complementation group D type 2 (FANCD2) [MIM:227646]	SWISS	No Domain	N/A	21361861,NP_149075
2177	67461071	Disease	p.Arg302Trp	VAR_022560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022560	- Fanconi anemia complementation group D type 2 (FANCD2) [MIM:227646]	SWISS	No Domain	N/A	21361861,NP_149075
2177	67461071	Disease	p.Arg1236His	VAR_022562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022562	- Fanconi anemia complementation group D type 2 (FANCD2) [MIM:227646]	SWISS	No Domain	N/A	21361861,NP_149075
2178	45476978	Disease	p.Pro184Gln	VAR_038022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038022	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	11345454,NP_068741
2189	6136453	Disease	p.Leu71Pro	VAR_017495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017495	- Fanconi anemia (FA) [MIM:227650]	SWISS	No Domain	N/A	4759336,NP_004620
355	119833	Disease	p.Thr28Ala	VAR_013417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013417	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	No Domain	N/A	4507583,NP_000034
355	119833	Disease	p.Cys82Arg	VAR_013418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013418	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	42	cd00185	4507583,NP_000034
355	119833	Disease	p.Arg121Trp	VAR_013419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013419	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	42	pfam00020	4507583,NP_000034
355	119833	Disease	p.Arg121Trp	VAR_013419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013419	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	42	smart00208	4507583,NP_000034
355	119833	Disease	p.Arg121Trp	VAR_013419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013419	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	84	cd00185	4507583,NP_000034
355	119833	Disease	p.Tyr232Cys	VAR_013423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013423	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	8	smart00005	4507583,NP_000034
355	119833	Disease	p.Tyr232Cys	VAR_013423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013423	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	2	pfam00531	4507583,NP_000034
355	119833	Disease	p.Tyr232Cys	VAR_013423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013423	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	10	cd08316	4507583,NP_000034
355	119833	Disease	p.Thr241Lys	VAR_013424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013424	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	20	smart00005	4507583,NP_000034
355	119833	Disease	p.Thr241Lys	VAR_013424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013424	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	3	cd08306	4507583,NP_000034
355	119833	Disease	p.Thr241Lys	VAR_013424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013424	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	13	pfam00531	4507583,NP_000034
355	119833	Disease	p.Thr241Lys	VAR_013424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013424	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	10	cd01670	4507583,NP_000034
355	119833	Disease	p.Thr241Lys	VAR_013424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013424	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	10	cd08784	4507583,NP_000034
355	119833	Disease	p.Thr241Lys	VAR_013424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013424	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	7	cd08313	4507583,NP_000034
355	119833	Disease	p.Thr241Lys	VAR_013424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013424	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	19	cd08316	4507583,NP_000034
355	119833	Disease	p.Thr241Pro	VAR_013425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013425	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	20	smart00005	4507583,NP_000034
355	119833	Disease	p.Thr241Pro	VAR_013425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013425	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	3	cd08306	4507583,NP_000034
355	119833	Disease	p.Thr241Pro	VAR_013425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013425	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	13	pfam00531	4507583,NP_000034
355	119833	Disease	p.Thr241Pro	VAR_013425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013425	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	10	cd01670	4507583,NP_000034
355	119833	Disease	p.Thr241Pro	VAR_013425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013425	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	10	cd08784	4507583,NP_000034
355	119833	Disease	p.Thr241Pro	VAR_013425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013425	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	7	cd08313	4507583,NP_000034
355	119833	Disease	p.Thr241Pro	VAR_013425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013425	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	19	cd08316	4507583,NP_000034
355	119833	Disease	p.Arg250Pro	VAR_013426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013426	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	30	smart00005	4507583,NP_000034
355	119833	Disease	p.Arg250Pro	VAR_013426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013426	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	21	cd08306	4507583,NP_000034
355	119833	Disease	p.Arg250Pro	VAR_013426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013426	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	25	pfam00531	4507583,NP_000034
355	119833	Disease	p.Arg250Pro	VAR_013426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013426	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	30	cd01670	4507583,NP_000034
355	119833	Disease	p.Arg250Pro	VAR_013426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013426	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	19	cd08784	4507583,NP_000034
355	119833	Disease	p.Arg250Pro	VAR_013426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013426	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	19	cd08313	4507583,NP_000034
355	119833	Disease	p.Arg250Pro	VAR_013426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013426	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	29	cd08316	4507583,NP_000034
355	119833	Disease	p.Arg250Gln	VAR_013427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013427	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	30	smart00005	4507583,NP_000034
355	119833	Disease	p.Arg250Gln	VAR_013427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013427	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	21	cd08306	4507583,NP_000034
355	119833	Disease	p.Arg250Gln	VAR_013427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013427	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	25	pfam00531	4507583,NP_000034
355	119833	Disease	p.Arg250Gln	VAR_013427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013427	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	30	cd01670	4507583,NP_000034
355	119833	Disease	p.Arg250Gln	VAR_013427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013427	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	19	cd08784	4507583,NP_000034
355	119833	Disease	p.Arg250Gln	VAR_013427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013427	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	19	cd08313	4507583,NP_000034
355	119833	Disease	p.Arg250Gln	VAR_013427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013427	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	29	cd08316	4507583,NP_000034
355	119833	Disease	p.Ala257Asp	VAR_013428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013428	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	65	smart00005	4507583,NP_000034
355	119833	Disease	p.Ala257Asp	VAR_013428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013428	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	28	cd08306	4507583,NP_000034
355	119833	Disease	p.Ala257Asp	VAR_013428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013428	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	32	pfam00531	4507583,NP_000034
355	119833	Disease	p.Ala257Asp	VAR_013428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013428	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	44	cd01670	4507583,NP_000034
355	119833	Disease	p.Ala257Asp	VAR_013428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013428	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	26	cd08784	4507583,NP_000034
355	119833	Disease	p.Ala257Asp	VAR_013428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013428	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	26	cd08313	4507583,NP_000034
355	119833	Disease	p.Ala257Asp	VAR_013428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013428	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	37	cd08316	4507583,NP_000034
355	119833	Disease	p.Asp260Gly	VAR_013429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013429	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	68	smart00005	4507583,NP_000034
355	119833	Disease	p.Asp260Gly	VAR_013429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013429	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	31	cd08306	4507583,NP_000034
355	119833	Disease	p.Asp260Gly	VAR_013429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013429	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	35	pfam00531	4507583,NP_000034
355	119833	Disease	p.Asp260Gly	VAR_013429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013429	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	47	cd01670	4507583,NP_000034
355	119833	Disease	p.Asp260Gly	VAR_013429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013429	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	29	cd08784	4507583,NP_000034
355	119833	Disease	p.Asp260Gly	VAR_013429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013429	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	29	cd08313	4507583,NP_000034
355	119833	Disease	p.Asp260Gly	VAR_013429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013429	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	40	cd08316	4507583,NP_000034
355	119833	Disease	p.Asp260Val	VAR_013431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013431	rs28929498 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	68	smart00005	4507583,NP_000034
355	119833	Disease	p.Asp260Val	VAR_013431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013431	rs28929498 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	31	cd08306	4507583,NP_000034
355	119833	Disease	p.Asp260Val	VAR_013431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013431	rs28929498 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	35	pfam00531	4507583,NP_000034
355	119833	Disease	p.Asp260Val	VAR_013431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013431	rs28929498 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	47	cd01670	4507583,NP_000034
355	119833	Disease	p.Asp260Val	VAR_013431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013431	rs28929498 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	29	cd08784	4507583,NP_000034
355	119833	Disease	p.Asp260Val	VAR_013431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013431	rs28929498 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	29	cd08313	4507583,NP_000034
355	119833	Disease	p.Asp260Val	VAR_013431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013431	rs28929498 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	40	cd08316	4507583,NP_000034
355	119833	Disease	p.Asp260Tyr	VAR_013430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013430	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	68	smart00005	4507583,NP_000034
355	119833	Disease	p.Asp260Tyr	VAR_013430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013430	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	31	cd08306	4507583,NP_000034
355	119833	Disease	p.Asp260Tyr	VAR_013430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013430	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	35	pfam00531	4507583,NP_000034
355	119833	Disease	p.Asp260Tyr	VAR_013430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013430	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	47	cd01670	4507583,NP_000034
355	119833	Disease	p.Asp260Tyr	VAR_013430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013430	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	29	cd08784	4507583,NP_000034
355	119833	Disease	p.Asp260Tyr	VAR_013430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013430	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	29	cd08313	4507583,NP_000034
355	119833	Disease	p.Asp260Tyr	VAR_013430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013430	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	40	cd08316	4507583,NP_000034
355	119833	Disease	p.Ile262Ser	VAR_058910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058910	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	70	smart00005	4507583,NP_000034
355	119833	Disease	p.Ile262Ser	VAR_058910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058910	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	33	cd08306	4507583,NP_000034
355	119833	Disease	p.Ile262Ser	VAR_058910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058910	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	37	pfam00531	4507583,NP_000034
355	119833	Disease	p.Ile262Ser	VAR_058910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058910	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	49	cd01670	4507583,NP_000034
355	119833	Disease	p.Ile262Ser	VAR_058910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058910	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	31	cd08784	4507583,NP_000034
355	119833	Disease	p.Ile262Ser	VAR_058910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058910	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	31	cd08313	4507583,NP_000034
355	119833	Disease	p.Ile262Ser	VAR_058910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058910	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	42	cd08316	4507583,NP_000034
355	119833	Disease	p.Thr270Ile	VAR_013433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013433	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	118	smart00005	4507583,NP_000034
355	119833	Disease	p.Thr270Ile	VAR_013433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013433	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	41	cd08306	4507583,NP_000034
355	119833	Disease	p.Thr270Ile	VAR_013433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013433	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	49	pfam00531	4507583,NP_000034
355	119833	Disease	p.Thr270Ile	VAR_013433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013433	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	59	cd01670	4507583,NP_000034
355	119833	Disease	p.Thr270Ile	VAR_013433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013433	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	39	cd08784	4507583,NP_000034
355	119833	Disease	p.Thr270Ile	VAR_013433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013433	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	39	cd08313	4507583,NP_000034
355	119833	Disease	p.Thr270Ile	VAR_013433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013433	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	50	cd08316	4507583,NP_000034
355	119833	Disease	p.Glu272Gly	VAR_013434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013434	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	120	smart00005	4507583,NP_000034
355	119833	Disease	p.Glu272Gly	VAR_013434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013434	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	43	cd08306	4507583,NP_000034
355	119833	Disease	p.Glu272Gly	VAR_013434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013434	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	51	pfam00531	4507583,NP_000034
355	119833	Disease	p.Glu272Gly	VAR_013434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013434	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	61	cd01670	4507583,NP_000034
355	119833	Disease	p.Glu272Gly	VAR_013434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013434	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	41	cd08784	4507583,NP_000034
355	119833	Disease	p.Glu272Gly	VAR_013434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013434	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	41	cd08313	4507583,NP_000034
355	119833	Disease	p.Glu272Gly	VAR_013434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013434	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	52	cd08316	4507583,NP_000034
355	119833	Disease	p.Ile310Ser	VAR_013438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013438	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	165	smart00005	4507583,NP_000034
355	119833	Disease	p.Ile310Ser	VAR_013438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013438	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	82	cd08306	4507583,NP_000034
355	119833	Disease	p.Ile310Ser	VAR_013438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013438	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	93	pfam00531	4507583,NP_000034
355	119833	Disease	p.Ile310Ser	VAR_013438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013438	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	121	cd01670	4507583,NP_000034
355	119833	Disease	p.Ile310Ser	VAR_013438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013438	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	80	cd08784	4507583,NP_000034
355	119833	Disease	p.Ile310Ser	VAR_013438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013438	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	86	cd08313	4507583,NP_000034
355	119833	Disease	p.Ile310Ser	VAR_013438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013438	- Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]	SWISS	90	cd08316	4507583,NP_000034
10516	12643876	Disease	p.Val60Leu	VAR_019814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019814	rs28939371 Age-related macular degeneration type 3 (ARMD3) [MIM:608895]	SWISS	No Domain	N/A	19743803,NP_006320
10516	12643876	Disease	p.Arg71Gln	VAR_019815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019815	rs28939372 Age-related macular degeneration type 3 (ARMD3) [MIM:608895]	SWISS	No Domain	N/A	19743803,NP_006320
10516	12643876	Disease	p.Pro87Ser	VAR_019816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019816	rs28939373 Age-related macular degeneration type 3 (ARMD3) [MIM:608895]	SWISS	No Domain	N/A	19743803,NP_006320
10516	12643876	Disease	p.Ile169Thr	VAR_019817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019817	rs28939072 Age-related macular degeneration type 3 (ARMD3) [MIM:608895]	SWISS	2	pfam07645	19743803,NP_006320
10516	12643876	Disease	p.Ile169Thr	VAR_019817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019817	rs28939072 Age-related macular degeneration type 3 (ARMD3) [MIM:608895]	SWISS	2	cd00054	19743803,NP_006320
10516	12643876	Disease	p.Ile169Thr	VAR_019817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019817	rs28939072 Age-related macular degeneration type 3 (ARMD3) [MIM:608895]	SWISS	2	smart00179	19743803,NP_006320
10516	12643876	Disease	p.Ser227Pro	VAR_017153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017153	rs28939370 Cutis laxa autosomal recessive type 1 (ARCL1) [MIM:219100]	SWISS	48	cd00053	19743803,NP_006320
10516	12643876	Disease	p.Ser227Pro	VAR_017153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017153	rs28939370 Cutis laxa autosomal recessive type 1 (ARCL1) [MIM:219100]	SWISS	47	smart00181	19743803,NP_006320
10516	12643876	Disease	p.Ser227Pro	VAR_017153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017153	rs28939370 Cutis laxa autosomal recessive type 1 (ARCL1) [MIM:219100]	SWISS	45	smart00179	19743803,NP_006320
10516	12643876	Disease	p.Ser227Pro	VAR_017153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017153	rs28939370 Cutis laxa autosomal recessive type 1 (ARCL1) [MIM:219100]	SWISS	50	cd00054	19743803,NP_006320
10516	12643876	Disease	p.Ser227Pro	VAR_017153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017153	rs28939370 Cutis laxa autosomal recessive type 1 (ARCL1) [MIM:219100]	SWISS	29	pfam07645	19743803,NP_006320
10516	12643876	Disease	p.Arg351Trp	VAR_019818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019818	rs28939073 Age-related macular degeneration type 3 (ARMD3) [MIM:608895]	SWISS	No Domain	N/A	19743803,NP_006320
10516	12643876	Disease	p.Ala363Thr	VAR_019819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019819	- Age-related macular degeneration type 3 (ARMD3) [MIM:608895]	SWISS	No Domain	N/A	19743803,NP_006320
10516	12643876	Disease	p.Gly412Glu	VAR_019820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019820	- Age-related macular degeneration type 3 (ARMD3) [MIM:608895]	SWISS	No Domain	N/A	19743803,NP_006320
2200	311033452	Disease	p.Tyr20Cys	VAR_023859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023859	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Arg62Cys	VAR_017967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017967	rs25403 Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Cys89Phe	VAR_017968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017968	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Cys111Arg	VAR_002276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002276	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Arg114Cys	VAR_017969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017969	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Ser115Cys	VAR_017970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017970	- Isolated ectopia lentis (EL) [MIM:129600]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Arg122Cys	VAR_002277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002277	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Cys123Tyr	VAR_023860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023860	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Cys129Tyr	VAR_002278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002278	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Cys154Ser	VAR_017971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017971	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Cys166Phe	VAR_002279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002279	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Cys166Ser	VAR_002280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002280	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Cys177Arg	VAR_023861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023861	rs363853 Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Trp217Gly	VAR_002281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002281	- Marfan syndrome (MFS) [MIM:154700]	SWISS	31	pfam00683	NULL
2200	311033452	Disease	p.Cys224Arg	VAR_023862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023862	- Marfan syndrome (MFS) [MIM:154700]	SWISS	41	pfam00683	NULL
2200	311033452	Disease	p.Arg240Cys	VAR_017972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017972	- Isolated ectopia lentis (EL) [MIM:129600]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Arg240Cys	VAR_017972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017972	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Trp366Cys	VAR_017973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017973	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	pfam00683	NULL
2200	311033452	Disease	p.Arg439Gly	VAR_023863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023863	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Cys476Gly	VAR_002282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002282	- Marfan syndrome (MFS) [MIM:154700]	SWISS	55	smart00179	NULL
2200	311033452	Disease	p.Cys476Gly	VAR_002282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002282	- Marfan syndrome (MFS) [MIM:154700]	SWISS	57	smart00181	NULL
2200	311033452	Disease	p.Cys476Gly	VAR_002282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002282	- Marfan syndrome (MFS) [MIM:154700]	SWISS	58	cd00053	NULL
2200	311033452	Disease	p.Cys476Gly	VAR_002282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002282	- Marfan syndrome (MFS) [MIM:154700]	SWISS	60	cd00054	NULL
2200	311033452	Disease	p.Asp490Tyr	VAR_002283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002283	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Cys504Phe	VAR_010776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010776	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Cys504Phe	VAR_010776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010776	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys504Phe	VAR_010776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010776	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Cys504Phe	VAR_010776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010776	- Marfan syndrome (MFS) [MIM:154700]	SWISS	18	pfam00008	NULL
2200	311033452	Disease	p.Cys504Phe	VAR_010776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010776	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Cys504Phe	VAR_010776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010776	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys541Tyr	VAR_023865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023865	- Marfan syndrome (MFS) [MIM:154700]	SWISS	19	cd00053	NULL
2200	311033452	Disease	p.Cys541Tyr	VAR_023865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023865	- Marfan syndrome (MFS) [MIM:154700]	SWISS	17	smart00181	NULL
2200	311033452	Disease	p.Cys541Tyr	VAR_023865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023865	- Marfan syndrome (MFS) [MIM:154700]	SWISS	10	pfam00008	NULL
2200	311033452	Disease	p.Cys541Tyr	VAR_023865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023865	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	cd00054	NULL
2200	311033452	Disease	p.Cys541Tyr	VAR_023865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023865	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	smart00179	NULL
2200	311033452	Disease	p.Cys541Tyr	VAR_023865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023865	- Marfan syndrome (MFS) [MIM:154700]	SWISS	14	pfam07645	NULL
2200	311033452	Disease	p.Arg545Cys	VAR_002284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002284	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	cd00053	NULL
2200	311033452	Disease	p.Arg545Cys	VAR_002284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002284	- Marfan syndrome (MFS) [MIM:154700]	SWISS	26	smart00181	NULL
2200	311033452	Disease	p.Arg545Cys	VAR_002284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002284	- Marfan syndrome (MFS) [MIM:154700]	SWISS	17	pfam00008	NULL
2200	311033452	Disease	p.Arg545Cys	VAR_002284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002284	- Marfan syndrome (MFS) [MIM:154700]	SWISS	35	cd00054	NULL
2200	311033452	Disease	p.Arg545Cys	VAR_002284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002284	- Marfan syndrome (MFS) [MIM:154700]	SWISS	33	smart00179	NULL
2200	311033452	Disease	p.Arg545Cys	VAR_002284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002284	- Marfan syndrome (MFS) [MIM:154700]	SWISS	22	pfam07645	NULL
2200	311033452	Disease	p.Asn548Ile	VAR_002285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002285	- Marfan syndrome (MFS) [MIM:154700]	SWISS	30	cd00053	NULL
2200	311033452	Disease	p.Asn548Ile	VAR_002285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002285	- Marfan syndrome (MFS) [MIM:154700]	SWISS	29	smart00181	NULL
2200	311033452	Disease	p.Asn548Ile	VAR_002285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002285	- Marfan syndrome (MFS) [MIM:154700]	SWISS	20	pfam00008	NULL
2200	311033452	Disease	p.Asn548Ile	VAR_002285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002285	- Marfan syndrome (MFS) [MIM:154700]	SWISS	38	cd00054	NULL
2200	311033452	Disease	p.Asn548Ile	VAR_002285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002285	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	smart00179	NULL
2200	311033452	Disease	p.Asn548Ile	VAR_002285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002285	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	pfam07645	NULL
2200	311033452	Disease	p.Gly560Ser	VAR_017974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017974	- Marfan syndrome (MFS) [MIM:154700]	SWISS	64	cd00053	NULL
2200	311033452	Disease	p.Gly560Ser	VAR_017974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017974	- Marfan syndrome (MFS) [MIM:154700]	SWISS	64	smart00181	NULL
2200	311033452	Disease	p.Gly560Ser	VAR_017974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017974	- Marfan syndrome (MFS) [MIM:154700]	SWISS	40	pfam00008	NULL
2200	311033452	Disease	p.Gly560Ser	VAR_017974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017974	- Marfan syndrome (MFS) [MIM:154700]	SWISS	68	cd00054	NULL
2200	311033452	Disease	p.Gly560Ser	VAR_017974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017974	- Marfan syndrome (MFS) [MIM:154700]	SWISS	60	smart00179	NULL
2200	311033452	Disease	p.Gly560Ser	VAR_017974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017974	- Marfan syndrome (MFS) [MIM:154700]	SWISS	41	pfam07645	NULL
2200	311033452	Disease	p.Cys570Tyr	VAR_017975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017975	- Marfan syndrome (MFS) [MIM:154700]	SWISS	85	cd00053	NULL
2200	311033452	Disease	p.Cys570Tyr	VAR_017975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017975	- Marfan syndrome (MFS) [MIM:154700]	SWISS	82	smart00181	NULL
2200	311033452	Disease	p.Cys570Tyr	VAR_017975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017975	- Marfan syndrome (MFS) [MIM:154700]	SWISS	89	cd00054	NULL
2200	311033452	Disease	p.Cys570Tyr	VAR_017975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017975	- Marfan syndrome (MFS) [MIM:154700]	SWISS	83	smart00179	NULL
2200	311033452	Disease	p.Cys587Tyr	VAR_002286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002286	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Cys587Tyr	VAR_002286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002286	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys587Tyr	VAR_002286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002286	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Cys587Tyr	VAR_002286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002286	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Cys587Tyr	VAR_002286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002286	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys587Tyr	VAR_002286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002286	- Marfan syndrome (MFS) [MIM:154700]	SWISS	18	pfam00008	NULL
2200	311033452	Disease	p.Gly592Asp	VAR_017976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017976	- Marfan syndrome (MFS) [MIM:154700]	SWISS	49	cd00054	NULL
2200	311033452	Disease	p.Gly592Asp	VAR_017976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017976	- Marfan syndrome (MFS) [MIM:154700]	SWISS	44	smart00179	NULL
2200	311033452	Disease	p.Gly592Asp	VAR_017976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017976	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	pfam07645	NULL
2200	311033452	Disease	p.Gly592Asp	VAR_017976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017976	- Marfan syndrome (MFS) [MIM:154700]	SWISS	46	smart00181	NULL
2200	311033452	Disease	p.Gly592Asp	VAR_017976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017976	- Marfan syndrome (MFS) [MIM:154700]	SWISS	47	cd00053	NULL
2200	311033452	Disease	p.Gly592Asp	VAR_017976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017976	- Marfan syndrome (MFS) [MIM:154700]	SWISS	31	pfam00008	NULL
2200	311033452	Disease	p.Cys596Tyr	VAR_017977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017977	- Marfan syndrome (MFS) [MIM:154700]	SWISS	53	cd00054	NULL
2200	311033452	Disease	p.Cys596Tyr	VAR_017977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017977	- Marfan syndrome (MFS) [MIM:154700]	SWISS	48	smart00179	NULL
2200	311033452	Disease	p.Cys596Tyr	VAR_017977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017977	- Marfan syndrome (MFS) [MIM:154700]	SWISS	32	pfam07645	NULL
2200	311033452	Disease	p.Cys596Tyr	VAR_017977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017977	- Marfan syndrome (MFS) [MIM:154700]	SWISS	50	smart00181	NULL
2200	311033452	Disease	p.Cys596Tyr	VAR_017977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017977	- Marfan syndrome (MFS) [MIM:154700]	SWISS	51	cd00053	NULL
2200	311033452	Disease	p.Cys596Tyr	VAR_017977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017977	- Marfan syndrome (MFS) [MIM:154700]	SWISS	35	pfam00008	NULL
2200	311033452	Disease	p.Cys598Trp	VAR_017978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017978	- Marfan syndrome (MFS) [MIM:154700]	SWISS	60	cd00054	NULL
2200	311033452	Disease	p.Cys598Trp	VAR_017978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017978	- Marfan syndrome (MFS) [MIM:154700]	SWISS	55	smart00179	NULL
2200	311033452	Disease	p.Cys598Trp	VAR_017978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017978	- Marfan syndrome (MFS) [MIM:154700]	SWISS	38	pfam07645	NULL
2200	311033452	Disease	p.Cys598Trp	VAR_017978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017978	- Marfan syndrome (MFS) [MIM:154700]	SWISS	57	smart00181	NULL
2200	311033452	Disease	p.Cys598Trp	VAR_017978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017978	- Marfan syndrome (MFS) [MIM:154700]	SWISS	58	cd00053	NULL
2200	311033452	Disease	p.Cys598Trp	VAR_017978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017978	- Marfan syndrome (MFS) [MIM:154700]	SWISS	37	pfam00008	NULL
2200	311033452	Disease	p.Arg627Cys	VAR_002287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002287	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	cd00053	NULL
2200	311033452	Disease	p.Arg627Cys	VAR_002287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002287	- Marfan syndrome (MFS) [MIM:154700]	SWISS	26	smart00181	NULL
2200	311033452	Disease	p.Arg627Cys	VAR_002287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002287	- Marfan syndrome (MFS) [MIM:154700]	SWISS	22	pfam07645	NULL
2200	311033452	Disease	p.Arg627Cys	VAR_002287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002287	- Marfan syndrome (MFS) [MIM:154700]	SWISS	33	smart00179	NULL
2200	311033452	Disease	p.Arg627Cys	VAR_002287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002287	- Marfan syndrome (MFS) [MIM:154700]	SWISS	35	cd00054	NULL
2200	311033452	Disease	p.Arg627Cys	VAR_002287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002287	- Marfan syndrome (MFS) [MIM:154700]	SWISS	17	pfam00008	NULL
2200	311033452	Disease	p.Cys628Lys	VAR_023866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023866	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys628Lys	VAR_023866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023866	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Cys628Lys	VAR_023866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023866	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Cys628Lys	VAR_023866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023866	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys628Lys	VAR_023866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023866	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Cys628Lys	VAR_023866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023866	- Marfan syndrome (MFS) [MIM:154700]	SWISS	18	pfam00008	NULL
2200	311033452	Disease	p.Tyr635Cys	VAR_023868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023868	- Marfan syndrome (MFS) [MIM:154700]	SWISS	49	cd00053	NULL
2200	311033452	Disease	p.Tyr635Cys	VAR_023868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023868	- Marfan syndrome (MFS) [MIM:154700]	SWISS	48	smart00181	NULL
2200	311033452	Disease	p.Tyr635Cys	VAR_023868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023868	- Marfan syndrome (MFS) [MIM:154700]	SWISS	30	pfam07645	NULL
2200	311033452	Disease	p.Tyr635Cys	VAR_023868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023868	- Marfan syndrome (MFS) [MIM:154700]	SWISS	46	smart00179	NULL
2200	311033452	Disease	p.Tyr635Cys	VAR_023868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023868	- Marfan syndrome (MFS) [MIM:154700]	SWISS	51	cd00054	NULL
2200	311033452	Disease	p.Tyr635Cys	VAR_023868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023868	- Marfan syndrome (MFS) [MIM:154700]	SWISS	33	pfam00008	NULL
2200	311033452	Disease	p.Arg636Ile	VAR_023869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023869	- Marfan syndrome (MFS) [MIM:154700]	SWISS	50	cd00053	NULL
2200	311033452	Disease	p.Arg636Ile	VAR_023869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023869	- Marfan syndrome (MFS) [MIM:154700]	SWISS	49	smart00181	NULL
2200	311033452	Disease	p.Arg636Ile	VAR_023869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023869	- Marfan syndrome (MFS) [MIM:154700]	SWISS	31	pfam07645	NULL
2200	311033452	Disease	p.Arg636Ile	VAR_023869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023869	- Marfan syndrome (MFS) [MIM:154700]	SWISS	47	smart00179	NULL
2200	311033452	Disease	p.Arg636Ile	VAR_023869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023869	- Marfan syndrome (MFS) [MIM:154700]	SWISS	52	cd00054	NULL
2200	311033452	Disease	p.Arg636Ile	VAR_023869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023869	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	pfam00008	NULL
2200	311033452	Disease	p.Cys652Ser	VAR_017979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017979	- Marfan syndrome (MFS) [MIM:154700]	SWISS	85	cd00053	NULL
2200	311033452	Disease	p.Cys652Ser	VAR_017979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017979	- Marfan syndrome (MFS) [MIM:154700]	SWISS	82	smart00181	NULL
2200	311033452	Disease	p.Cys652Ser	VAR_017979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017979	- Marfan syndrome (MFS) [MIM:154700]	SWISS	83	smart00179	NULL
2200	311033452	Disease	p.Cys652Ser	VAR_017979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017979	- Marfan syndrome (MFS) [MIM:154700]	SWISS	89	cd00054	NULL
2200	311033452	Disease	p.Asp654Asn	VAR_017980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017980	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Cys661Arg	VAR_002288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002288	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Cys661Tyr	VAR_017981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017981	- Isolated ectopia lentis (EL) [MIM:129600]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Ser681Tyr	VAR_017982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017982	- Marfan syndrome (MFS) [MIM:154700]	SWISS	16	pfam00683	NULL
2200	311033452	Disease	p.Cys683Arg	VAR_017983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017983	- Marfan syndrome (MFS) [MIM:154700]	SWISS	19	pfam00683	NULL
2200	311033452	Disease	p.Cys685Trp	VAR_017984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017984	- Marfan syndrome (MFS) [MIM:154700]	SWISS	21	pfam00683	NULL
2200	311033452	Disease	p.Ala705Thr	VAR_002289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002289	- Marfan syndrome (MFS) [MIM:154700]	SWISS	48	pfam00683	NULL
2200	311033452	Disease	p.Cys711Tyr	VAR_002290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002290	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Asp723Ala	VAR_002291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002291	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Asp723Val	VAR_017985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017985	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Cys734Phe	VAR_017986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017986	- Marfan syndrome (MFS) [MIM:154700]	SWISS	14	pfam07645	NULL
2200	311033452	Disease	p.Cys734Phe	VAR_017986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017986	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	smart00179	NULL
2200	311033452	Disease	p.Cys734Phe	VAR_017986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017986	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	cd00054	NULL
2200	311033452	Disease	p.Cys734Phe	VAR_017986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017986	- Marfan syndrome (MFS) [MIM:154700]	SWISS	17	smart00181	NULL
2200	311033452	Disease	p.Cys734Phe	VAR_017986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017986	- Marfan syndrome (MFS) [MIM:154700]	SWISS	19	cd00053	NULL
2200	311033452	Disease	p.Cys734Phe	VAR_017986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017986	- Marfan syndrome (MFS) [MIM:154700]	SWISS	10	pfam00008	NULL
2200	311033452	Disease	p.Tyr746Cys	VAR_002292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002292	- Marfan syndrome (MFS) [MIM:154700]	SWISS	30	pfam07645	NULL
2200	311033452	Disease	p.Tyr746Cys	VAR_002292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002292	- Marfan syndrome (MFS) [MIM:154700]	SWISS	46	smart00179	NULL
2200	311033452	Disease	p.Tyr746Cys	VAR_002292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002292	- Marfan syndrome (MFS) [MIM:154700]	SWISS	51	cd00054	NULL
2200	311033452	Disease	p.Tyr746Cys	VAR_002292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002292	- Marfan syndrome (MFS) [MIM:154700]	SWISS	48	smart00181	NULL
2200	311033452	Disease	p.Tyr746Cys	VAR_002292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002292	- Marfan syndrome (MFS) [MIM:154700]	SWISS	49	cd00053	NULL
2200	311033452	Disease	p.Tyr746Cys	VAR_002292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002292	- Marfan syndrome (MFS) [MIM:154700]	SWISS	33	pfam00008	NULL
2200	311033452	Disease	p.Cys748Tyr	VAR_017987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017987	- Marfan syndrome (MFS) [MIM:154700]	SWISS	32	pfam07645	NULL
2200	311033452	Disease	p.Cys748Tyr	VAR_017987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017987	- Marfan syndrome (MFS) [MIM:154700]	SWISS	48	smart00179	NULL
2200	311033452	Disease	p.Cys748Tyr	VAR_017987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017987	- Marfan syndrome (MFS) [MIM:154700]	SWISS	53	cd00054	NULL
2200	311033452	Disease	p.Cys748Tyr	VAR_017987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017987	- Marfan syndrome (MFS) [MIM:154700]	SWISS	50	smart00181	NULL
2200	311033452	Disease	p.Cys748Tyr	VAR_017987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017987	- Marfan syndrome (MFS) [MIM:154700]	SWISS	51	cd00053	NULL
2200	311033452	Disease	p.Cys748Tyr	VAR_017987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017987	- Marfan syndrome (MFS) [MIM:154700]	SWISS	35	pfam00008	NULL
2200	311033452	Disease	p.Cys750Gly	VAR_002293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002293	- Marfan syndrome (MFS) [MIM:154700]	SWISS	38	pfam07645	NULL
2200	311033452	Disease	p.Cys750Gly	VAR_002293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002293	- Marfan syndrome (MFS) [MIM:154700]	SWISS	55	smart00179	NULL
2200	311033452	Disease	p.Cys750Gly	VAR_002293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002293	- Marfan syndrome (MFS) [MIM:154700]	SWISS	60	cd00054	NULL
2200	311033452	Disease	p.Cys750Gly	VAR_002293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002293	- Marfan syndrome (MFS) [MIM:154700]	SWISS	57	smart00181	NULL
2200	311033452	Disease	p.Cys750Gly	VAR_002293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002293	- Marfan syndrome (MFS) [MIM:154700]	SWISS	58	cd00053	NULL
2200	311033452	Disease	p.Cys750Gly	VAR_002293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002293	- Marfan syndrome (MFS) [MIM:154700]	SWISS	37	pfam00008	NULL
2200	311033452	Disease	p.Cys776Gly	VAR_017988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017988	- Marfan syndrome (MFS) [MIM:154700]	SWISS	10	pfam00008	NULL
2200	311033452	Disease	p.Cys776Gly	VAR_017988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017988	- Marfan syndrome (MFS) [MIM:154700]	SWISS	14	pfam07645	NULL
2200	311033452	Disease	p.Cys776Gly	VAR_017988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017988	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	cd00054	NULL
2200	311033452	Disease	p.Cys776Gly	VAR_017988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017988	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	smart00179	NULL
2200	311033452	Disease	p.Cys776Gly	VAR_017988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017988	- Marfan syndrome (MFS) [MIM:154700]	SWISS	17	smart00181	NULL
2200	311033452	Disease	p.Cys776Gly	VAR_017988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017988	- Marfan syndrome (MFS) [MIM:154700]	SWISS	19	cd00053	NULL
2200	311033452	Disease	p.Cys776Tyr	VAR_017989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017989	- Marfan syndrome (MFS) [MIM:154700]	SWISS	10	pfam00008	NULL
2200	311033452	Disease	p.Cys776Tyr	VAR_017989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017989	- Marfan syndrome (MFS) [MIM:154700]	SWISS	14	pfam07645	NULL
2200	311033452	Disease	p.Cys776Tyr	VAR_017989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017989	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	cd00054	NULL
2200	311033452	Disease	p.Cys776Tyr	VAR_017989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017989	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	smart00179	NULL
2200	311033452	Disease	p.Cys776Tyr	VAR_017989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017989	- Marfan syndrome (MFS) [MIM:154700]	SWISS	17	smart00181	NULL
2200	311033452	Disease	p.Cys776Tyr	VAR_017989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017989	- Marfan syndrome (MFS) [MIM:154700]	SWISS	19	cd00053	NULL
2200	311033452	Disease	p.Cys781Arg	VAR_017990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017990	- Marfan syndrome (MFS) [MIM:154700]	SWISS	18	pfam00008	NULL
2200	311033452	Disease	p.Cys781Arg	VAR_017990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017990	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Cys781Arg	VAR_017990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017990	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Cys781Arg	VAR_017990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017990	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys781Arg	VAR_017990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017990	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Cys781Arg	VAR_017990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017990	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys781Tyr	VAR_023870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023870	- Marfan syndrome (MFS) [MIM:154700]	SWISS	18	pfam00008	NULL
2200	311033452	Disease	p.Cys781Tyr	VAR_023870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023870	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Cys781Tyr	VAR_023870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023870	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Cys781Tyr	VAR_023870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023870	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys781Tyr	VAR_023870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023870	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Cys781Tyr	VAR_023870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023870	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys816Ser	VAR_017991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017991	- Marfan syndrome (MFS) [MIM:154700]	SWISS	19	cd00053	NULL
2200	311033452	Disease	p.Cys816Ser	VAR_017991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017991	- Marfan syndrome (MFS) [MIM:154700]	SWISS	17	smart00181	NULL
2200	311033452	Disease	p.Cys816Ser	VAR_017991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017991	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	cd00054	NULL
2200	311033452	Disease	p.Cys816Ser	VAR_017991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017991	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	smart00179	NULL
2200	311033452	Disease	p.Cys832Tyr	VAR_023871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023871	- Marfan syndrome (MFS) [MIM:154700]	SWISS	58	cd00053	NULL
2200	311033452	Disease	p.Cys832Tyr	VAR_023871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023871	- Marfan syndrome (MFS) [MIM:154700]	SWISS	57	smart00181	NULL
2200	311033452	Disease	p.Cys832Tyr	VAR_023871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023871	- Marfan syndrome (MFS) [MIM:154700]	SWISS	60	cd00054	NULL
2200	311033452	Disease	p.Cys832Tyr	VAR_023871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023871	- Marfan syndrome (MFS) [MIM:154700]	SWISS	55	smart00179	NULL
2200	311033452	Disease	p.Cys862Arg	VAR_002294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002294	- Marfan syndrome (MFS) [MIM:154700]	SWISS	3	pfam00683	NULL
2200	311033452	Disease	p.Cys890Gly	VAR_023872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023872	- Marfan syndrome (MFS) [MIM:154700]	SWISS	41	pfam00683	NULL
2200	311033452	Disease	p.Cys890Arg	VAR_017992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017992	- Marfan syndrome (MFS) [MIM:154700]	SWISS	41	pfam00683	NULL
2200	311033452	Disease	p.Cys908Arg	VAR_017993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017993	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Glu913Gly	VAR_017994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017994	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	pfam07645	NULL
2200	311033452	Disease	p.Glu913Gly	VAR_017994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017994	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	smart00179	NULL
2200	311033452	Disease	p.Glu913Gly	VAR_017994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017994	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	cd00054	NULL
2200	311033452	Disease	p.Cys921Gly	VAR_017995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017995	- Marfan syndrome (MFS) [MIM:154700]	SWISS	14	pfam07645	NULL
2200	311033452	Disease	p.Cys921Gly	VAR_017995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017995	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	smart00179	NULL
2200	311033452	Disease	p.Cys921Gly	VAR_017995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017995	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	cd00054	NULL
2200	311033452	Disease	p.Cys921Gly	VAR_017995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017995	- Marfan syndrome (MFS) [MIM:154700]	SWISS	10	pfam00008	NULL
2200	311033452	Disease	p.Cys921Gly	VAR_017995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017995	- Marfan syndrome (MFS) [MIM:154700]	SWISS	19	cd00053	NULL
2200	311033452	Disease	p.Cys921Gly	VAR_017995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017995	- Marfan syndrome (MFS) [MIM:154700]	SWISS	17	smart00181	NULL
2200	311033452	Disease	p.Cys926Arg	VAR_002295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002295	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Cys926Arg	VAR_002295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002295	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys926Arg	VAR_002295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002295	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Cys926Arg	VAR_002295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002295	- Marfan syndrome (MFS) [MIM:154700]	SWISS	18	pfam00008	NULL
2200	311033452	Disease	p.Cys926Arg	VAR_002295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002295	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys926Arg	VAR_002295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002295	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Val984Ile	VAR_002296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002296	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam00683	NULL
2200	311033452	Disease	p.Gly985Glu	VAR_018319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018319	- Marfan syndrome (MFS) [MIM:154700]	SWISS	24	pfam00683	NULL
2200	311033452	Disease	p.Gly985Arg	VAR_017996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017996	- Marfan syndrome (MFS) [MIM:154700]	SWISS	24	pfam00683	NULL
2200	311033452	Disease	p.Cys996Arg	VAR_002297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002297	rs140592 Marfan syndrome (MFS) [MIM:154700]	SWISS	41	pfam00683	NULL
2200	311033452	Disease	p.Gly1013Arg	VAR_002298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002298	rs140593 Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Lys1023Asn	VAR_002299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002299	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Lys1043Arg	VAR_002300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002300	- Marfan syndrome (MFS) [MIM:154700]	SWISS	26	smart00181	NULL
2200	311033452	Disease	p.Lys1043Arg	VAR_002300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002300	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	cd00053	NULL
2200	311033452	Disease	p.Lys1043Arg	VAR_002300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002300	- Marfan syndrome (MFS) [MIM:154700]	SWISS	17	pfam00008	NULL
2200	311033452	Disease	p.Lys1043Arg	VAR_002300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002300	- Marfan syndrome (MFS) [MIM:154700]	SWISS	33	smart00179	NULL
2200	311033452	Disease	p.Lys1043Arg	VAR_002300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002300	- Marfan syndrome (MFS) [MIM:154700]	SWISS	35	cd00054	NULL
2200	311033452	Disease	p.Lys1043Arg	VAR_002300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002300	- Marfan syndrome (MFS) [MIM:154700]	SWISS	22	pfam07645	NULL
2200	311033452	Disease	p.Cys1044Tyr	VAR_017997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017997	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Cys1044Tyr	VAR_017997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017997	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys1044Tyr	VAR_017997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017997	- Marfan syndrome (MFS) [MIM:154700]	SWISS	18	pfam00008	NULL
2200	311033452	Disease	p.Cys1044Tyr	VAR_017997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017997	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys1044Tyr	VAR_017997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017997	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Cys1044Tyr	VAR_017997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017997	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Ile1048Thr	VAR_002301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002301	- Marfan syndrome (MFS) [MIM:154700]	SWISS	45	smart00181	NULL
2200	311033452	Disease	p.Ile1048Thr	VAR_002301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002301	- Marfan syndrome (MFS) [MIM:154700]	SWISS	32	cd00053	NULL
2200	311033452	Disease	p.Ile1048Thr	VAR_002301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002301	- Marfan syndrome (MFS) [MIM:154700]	SWISS	22	pfam00008	NULL
2200	311033452	Disease	p.Ile1048Thr	VAR_002301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002301	- Marfan syndrome (MFS) [MIM:154700]	SWISS	43	smart00179	NULL
2200	311033452	Disease	p.Ile1048Thr	VAR_002301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002301	- Marfan syndrome (MFS) [MIM:154700]	SWISS	40	cd00054	NULL
2200	311033452	Disease	p.Ile1048Thr	VAR_002301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002301	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	pfam07645	NULL
2200	311033452	Disease	p.Cys1053Arg	VAR_002303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002303	- Marfan syndrome (MFS) [MIM:154700]	SWISS	50	smart00181	NULL
2200	311033452	Disease	p.Cys1053Arg	VAR_002303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002303	- Marfan syndrome (MFS) [MIM:154700]	SWISS	51	cd00053	NULL
2200	311033452	Disease	p.Cys1053Arg	VAR_002303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002303	- Marfan syndrome (MFS) [MIM:154700]	SWISS	35	pfam00008	NULL
2200	311033452	Disease	p.Cys1053Arg	VAR_002303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002303	- Marfan syndrome (MFS) [MIM:154700]	SWISS	48	smart00179	NULL
2200	311033452	Disease	p.Cys1053Arg	VAR_002303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002303	- Marfan syndrome (MFS) [MIM:154700]	SWISS	53	cd00054	NULL
2200	311033452	Disease	p.Cys1053Arg	VAR_002303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002303	- Marfan syndrome (MFS) [MIM:154700]	SWISS	32	pfam07645	NULL
2200	311033452	Disease	p.Cys1055Gly	VAR_002304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002304	- Marfan syndrome (MFS) [MIM:154700]	SWISS	57	smart00181	NULL
2200	311033452	Disease	p.Cys1055Gly	VAR_002304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002304	- Marfan syndrome (MFS) [MIM:154700]	SWISS	58	cd00053	NULL
2200	311033452	Disease	p.Cys1055Gly	VAR_002304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002304	- Marfan syndrome (MFS) [MIM:154700]	SWISS	37	pfam00008	NULL
2200	311033452	Disease	p.Cys1055Gly	VAR_002304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002304	- Marfan syndrome (MFS) [MIM:154700]	SWISS	55	smart00179	NULL
2200	311033452	Disease	p.Cys1055Gly	VAR_002304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002304	- Marfan syndrome (MFS) [MIM:154700]	SWISS	60	cd00054	NULL
2200	311033452	Disease	p.Cys1055Gly	VAR_002304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002304	- Marfan syndrome (MFS) [MIM:154700]	SWISS	38	pfam07645	NULL
2200	311033452	Disease	p.Cys1055Trp	VAR_017998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017998	- Marfan syndrome (MFS) [MIM:154700]	SWISS	57	smart00181	NULL
2200	311033452	Disease	p.Cys1055Trp	VAR_017998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017998	- Marfan syndrome (MFS) [MIM:154700]	SWISS	58	cd00053	NULL
2200	311033452	Disease	p.Cys1055Trp	VAR_017998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017998	- Marfan syndrome (MFS) [MIM:154700]	SWISS	37	pfam00008	NULL
2200	311033452	Disease	p.Cys1055Trp	VAR_017998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017998	- Marfan syndrome (MFS) [MIM:154700]	SWISS	55	smart00179	NULL
2200	311033452	Disease	p.Cys1055Trp	VAR_017998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017998	- Marfan syndrome (MFS) [MIM:154700]	SWISS	60	cd00054	NULL
2200	311033452	Disease	p.Cys1055Trp	VAR_017998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017998	- Marfan syndrome (MFS) [MIM:154700]	SWISS	38	pfam07645	NULL
2200	311033452	Disease	p.Cys1055Tyr	VAR_017999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017999	- Marfan syndrome (MFS) [MIM:154700]	SWISS	57	smart00181	NULL
2200	311033452	Disease	p.Cys1055Tyr	VAR_017999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017999	- Marfan syndrome (MFS) [MIM:154700]	SWISS	58	cd00053	NULL
2200	311033452	Disease	p.Cys1055Tyr	VAR_017999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017999	- Marfan syndrome (MFS) [MIM:154700]	SWISS	37	pfam00008	NULL
2200	311033452	Disease	p.Cys1055Tyr	VAR_017999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017999	- Marfan syndrome (MFS) [MIM:154700]	SWISS	55	smart00179	NULL
2200	311033452	Disease	p.Cys1055Tyr	VAR_017999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017999	- Marfan syndrome (MFS) [MIM:154700]	SWISS	60	cd00054	NULL
2200	311033452	Disease	p.Cys1055Tyr	VAR_017999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017999	- Marfan syndrome (MFS) [MIM:154700]	SWISS	38	pfam07645	NULL
2200	311033452	Disease	p.Gly1058Asp	VAR_023873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023873	- Marfan syndrome (MFS) [MIM:154700]	SWISS	64	smart00181	NULL
2200	311033452	Disease	p.Gly1058Asp	VAR_023873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023873	- Marfan syndrome (MFS) [MIM:154700]	SWISS	64	cd00053	NULL
2200	311033452	Disease	p.Gly1058Asp	VAR_023873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023873	- Marfan syndrome (MFS) [MIM:154700]	SWISS	40	pfam00008	NULL
2200	311033452	Disease	p.Gly1058Asp	VAR_023873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023873	- Marfan syndrome (MFS) [MIM:154700]	SWISS	60	smart00179	NULL
2200	311033452	Disease	p.Gly1058Asp	VAR_023873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023873	- Marfan syndrome (MFS) [MIM:154700]	SWISS	68	cd00054	NULL
2200	311033452	Disease	p.Gly1058Asp	VAR_023873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023873	- Marfan syndrome (MFS) [MIM:154700]	SWISS	41	pfam07645	NULL
2200	311033452	Disease	p.Asp1072Gly	VAR_002306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002306	- Marfan syndrome (MFS) [MIM:154700]	SWISS	3	pfam07645	NULL
2200	311033452	Disease	p.Asp1072Gly	VAR_002306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002306	- Marfan syndrome (MFS) [MIM:154700]	SWISS	3	cd00054	NULL
2200	311033452	Disease	p.Asp1072Gly	VAR_002306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002306	- Marfan syndrome (MFS) [MIM:154700]	SWISS	3	smart00179	NULL
2200	311033452	Disease	p.Glu1073Lys	VAR_002307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002307	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	pfam07645	NULL
2200	311033452	Disease	p.Glu1073Lys	VAR_002307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002307	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	cd00054	NULL
2200	311033452	Disease	p.Glu1073Lys	VAR_002307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002307	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	smart00179	NULL
2200	311033452	Disease	p.Cys1074Arg	VAR_002308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002308	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	pfam07645	NULL
2200	311033452	Disease	p.Cys1074Arg	VAR_002308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002308	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	cd00054	NULL
2200	311033452	Disease	p.Cys1074Arg	VAR_002308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002308	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	smart00179	NULL
2200	311033452	Disease	p.Cys1074Arg	VAR_002308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002308	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	cd00053	NULL
2200	311033452	Disease	p.Cys1074Arg	VAR_002308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002308	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	smart00181	NULL
2200	311033452	Disease	p.Cys1086Trp	VAR_002309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002309	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Cys1086Trp	VAR_002309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002309	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Cys1086Trp	VAR_002309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002309	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys1086Trp	VAR_002309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002309	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys1086Trp	VAR_002309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002309	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Tyr1101Cys	VAR_018000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018000	- Marfan syndrome (MFS) [MIM:154700]	SWISS	42	pfam07645	NULL
2200	311033452	Disease	p.Tyr1101Cys	VAR_018000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018000	- Marfan syndrome (MFS) [MIM:154700]	SWISS	69	cd00054	NULL
2200	311033452	Disease	p.Tyr1101Cys	VAR_018000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018000	- Marfan syndrome (MFS) [MIM:154700]	SWISS	62	smart00179	NULL
2200	311033452	Disease	p.Tyr1101Cys	VAR_018000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018000	- Marfan syndrome (MFS) [MIM:154700]	SWISS	65	cd00053	NULL
2200	311033452	Disease	p.Tyr1101Cys	VAR_018000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018000	- Marfan syndrome (MFS) [MIM:154700]	SWISS	66	smart00181	NULL
2200	311033452	Disease	p.Asp1113Val	VAR_023874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023874	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Cys1117Gly	VAR_002310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002310	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	smart00181	NULL
2200	311033452	Disease	p.Cys1117Gly	VAR_002310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002310	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	cd00053	NULL
2200	311033452	Disease	p.Cys1117Gly	VAR_002310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002310	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	smart00179	NULL
2200	311033452	Disease	p.Cys1117Gly	VAR_002310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002310	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	cd00054	NULL
2200	311033452	Disease	p.Cys1117Gly	VAR_002310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002310	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	pfam07645	NULL
2200	311033452	Disease	p.Cys1117Tyr	VAR_002311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002311	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	smart00181	NULL
2200	311033452	Disease	p.Cys1117Tyr	VAR_002311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002311	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	cd00053	NULL
2200	311033452	Disease	p.Cys1117Tyr	VAR_002311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002311	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	smart00179	NULL
2200	311033452	Disease	p.Cys1117Tyr	VAR_002311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002311	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	cd00054	NULL
2200	311033452	Disease	p.Cys1117Tyr	VAR_002311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002311	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	pfam07645	NULL
2200	311033452	Disease	p.Cys1129Tyr	VAR_010777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010777	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Cys1129Tyr	VAR_010777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010777	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys1129Tyr	VAR_010777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010777	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys1129Tyr	VAR_010777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010777	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Cys1129Tyr	VAR_010777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010777	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Asn1131Tyr	VAR_002313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002313	- Marfan syndrome (MFS) [MIM:154700]	SWISS	29	smart00181	NULL
2200	311033452	Disease	p.Asn1131Tyr	VAR_002313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002313	- Marfan syndrome (MFS) [MIM:154700]	SWISS	30	cd00053	NULL
2200	311033452	Disease	p.Asn1131Tyr	VAR_002313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002313	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	smart00179	NULL
2200	311033452	Disease	p.Asn1131Tyr	VAR_002313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002313	- Marfan syndrome (MFS) [MIM:154700]	SWISS	38	cd00054	NULL
2200	311033452	Disease	p.Asn1131Tyr	VAR_002313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002313	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	pfam07645	NULL
2200	311033452	Disease	p.Arg1137Pro	VAR_002314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002314	- Marfan syndrome (MFS) [MIM:154700]	SWISS	49	smart00181	NULL
2200	311033452	Disease	p.Arg1137Pro	VAR_002314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002314	- Marfan syndrome (MFS) [MIM:154700]	SWISS	50	cd00053	NULL
2200	311033452	Disease	p.Arg1137Pro	VAR_002314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002314	- Marfan syndrome (MFS) [MIM:154700]	SWISS	47	smart00179	NULL
2200	311033452	Disease	p.Arg1137Pro	VAR_002314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002314	- Marfan syndrome (MFS) [MIM:154700]	SWISS	52	cd00054	NULL
2200	311033452	Disease	p.Arg1137Pro	VAR_002314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002314	- Marfan syndrome (MFS) [MIM:154700]	SWISS	31	pfam07645	NULL
2200	311033452	Disease	p.Cys1153Ser	VAR_023875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023875	- Marfan syndrome (MFS) [MIM:154700]	SWISS	82	smart00181	NULL
2200	311033452	Disease	p.Cys1153Ser	VAR_023875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023875	- Marfan syndrome (MFS) [MIM:154700]	SWISS	85	cd00053	NULL
2200	311033452	Disease	p.Cys1153Ser	VAR_023875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023875	- Marfan syndrome (MFS) [MIM:154700]	SWISS	83	smart00179	NULL
2200	311033452	Disease	p.Cys1153Ser	VAR_023875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023875	- Marfan syndrome (MFS) [MIM:154700]	SWISS	89	cd00054	NULL
2200	311033452	Disease	p.Cys1153Tyr	VAR_002316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002316	rs140599 Marfan syndrome (MFS) [MIM:154700]	SWISS	82	smart00181	NULL
2200	311033452	Disease	p.Cys1153Tyr	VAR_002316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002316	rs140599 Marfan syndrome (MFS) [MIM:154700]	SWISS	85	cd00053	NULL
2200	311033452	Disease	p.Cys1153Tyr	VAR_002316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002316	rs140599 Marfan syndrome (MFS) [MIM:154700]	SWISS	83	smart00179	NULL
2200	311033452	Disease	p.Cys1153Tyr	VAR_002316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002316	rs140599 Marfan syndrome (MFS) [MIM:154700]	SWISS	89	cd00054	NULL
2200	311033452	Disease	p.Asp1155Asn	VAR_002317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002317	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Arg1170His	VAR_002318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002318	- Marfan syndrome (MFS) [MIM:154700]	SWISS	26	smart00181	NULL
2200	311033452	Disease	p.Arg1170His	VAR_002318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002318	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	cd00053	NULL
2200	311033452	Disease	p.Arg1170His	VAR_002318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002318	- Marfan syndrome (MFS) [MIM:154700]	SWISS	22	pfam07645	NULL
2200	311033452	Disease	p.Arg1170His	VAR_002318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002318	- Marfan syndrome (MFS) [MIM:154700]	SWISS	33	smart00179	NULL
2200	311033452	Disease	p.Arg1170His	VAR_002318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002318	- Marfan syndrome (MFS) [MIM:154700]	SWISS	35	cd00054	NULL
2200	311033452	Disease	p.Arg1170His	VAR_002318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002318	- Marfan syndrome (MFS) [MIM:154700]	SWISS	17	pfam00008	NULL
2200	311033452	Disease	p.Cys1171Trp	VAR_002319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002319	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Cys1171Trp	VAR_002319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002319	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys1171Trp	VAR_002319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002319	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Cys1171Trp	VAR_002319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002319	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys1171Trp	VAR_002319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002319	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Cys1171Trp	VAR_002319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002319	- Marfan syndrome (MFS) [MIM:154700]	SWISS	18	pfam00008	NULL
2200	311033452	Disease	p.Asn1173Lys	VAR_002320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002320	- Marfan syndrome (MFS) [MIM:154700]	SWISS	29	smart00181	NULL
2200	311033452	Disease	p.Asn1173Lys	VAR_002320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002320	- Marfan syndrome (MFS) [MIM:154700]	SWISS	30	cd00053	NULL
2200	311033452	Disease	p.Asn1173Lys	VAR_002320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002320	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	pfam07645	NULL
2200	311033452	Disease	p.Asn1173Lys	VAR_002320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002320	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	smart00179	NULL
2200	311033452	Disease	p.Asn1173Lys	VAR_002320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002320	- Marfan syndrome (MFS) [MIM:154700]	SWISS	38	cd00054	NULL
2200	311033452	Disease	p.Asn1173Lys	VAR_002320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002320	- Marfan syndrome (MFS) [MIM:154700]	SWISS	20	pfam00008	NULL
2200	311033452	Disease	p.Glu1200Gly	VAR_018002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018002	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	smart00179	NULL
2200	311033452	Disease	p.Glu1200Gly	VAR_018002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018002	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	cd00054	NULL
2200	311033452	Disease	p.Glu1200Gly	VAR_018002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018002	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	pfam07645	NULL
2200	311033452	Disease	p.Tyr1219Cys	VAR_023877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023877	- Marfan syndrome (MFS) [MIM:154700]	SWISS	48	smart00181	NULL
2200	311033452	Disease	p.Tyr1219Cys	VAR_023877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023877	- Marfan syndrome (MFS) [MIM:154700]	SWISS	49	cd00053	NULL
2200	311033452	Disease	p.Tyr1219Cys	VAR_023877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023877	- Marfan syndrome (MFS) [MIM:154700]	SWISS	46	smart00179	NULL
2200	311033452	Disease	p.Tyr1219Cys	VAR_023877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023877	- Marfan syndrome (MFS) [MIM:154700]	SWISS	51	cd00054	NULL
2200	311033452	Disease	p.Tyr1219Cys	VAR_023877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023877	- Marfan syndrome (MFS) [MIM:154700]	SWISS	30	pfam07645	NULL
2200	311033452	Disease	p.Cys1223Tyr	VAR_002321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002321	- Marfan syndrome (MFS) [MIM:154700]	SWISS	57	smart00181	NULL
2200	311033452	Disease	p.Cys1223Tyr	VAR_002321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002321	- Marfan syndrome (MFS) [MIM:154700]	SWISS	58	cd00053	NULL
2200	311033452	Disease	p.Cys1223Tyr	VAR_002321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002321	- Marfan syndrome (MFS) [MIM:154700]	SWISS	55	smart00179	NULL
2200	311033452	Disease	p.Cys1223Tyr	VAR_002321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002321	- Marfan syndrome (MFS) [MIM:154700]	SWISS	60	cd00054	NULL
2200	311033452	Disease	p.Cys1223Tyr	VAR_002321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002321	- Marfan syndrome (MFS) [MIM:154700]	SWISS	38	pfam07645	NULL
2200	311033452	Disease	p.Cys1223Tyr	VAR_002321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002321	- Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]	SWISS	57	smart00181	NULL
2200	311033452	Disease	p.Cys1223Tyr	VAR_002321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002321	- Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]	SWISS	58	cd00053	NULL
2200	311033452	Disease	p.Cys1223Tyr	VAR_002321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002321	- Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]	SWISS	55	smart00179	NULL
2200	311033452	Disease	p.Cys1223Tyr	VAR_002321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002321	- Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]	SWISS	60	cd00054	NULL
2200	311033452	Disease	p.Cys1223Tyr	VAR_002321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002321	- Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]	SWISS	38	pfam07645	NULL
2200	311033452	Disease	p.Cys1242Tyr	VAR_002322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002322	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	pfam07645	NULL
2200	311033452	Disease	p.Cys1242Tyr	VAR_002322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002322	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	smart00179	NULL
2200	311033452	Disease	p.Cys1242Tyr	VAR_002322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002322	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	cd00054	NULL
2200	311033452	Disease	p.Cys1242Tyr	VAR_002322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002322	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	smart00181	NULL
2200	311033452	Disease	p.Cys1242Tyr	VAR_002322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002322	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	cd00053	NULL
2200	311033452	Disease	p.Cys1249Ser	VAR_002323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002323	- Marfan syndrome (MFS) [MIM:154700]	SWISS	14	pfam07645	NULL
2200	311033452	Disease	p.Cys1249Ser	VAR_002323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002323	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	smart00179	NULL
2200	311033452	Disease	p.Cys1249Ser	VAR_002323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002323	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	cd00054	NULL
2200	311033452	Disease	p.Cys1249Ser	VAR_002323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002323	- Marfan syndrome (MFS) [MIM:154700]	SWISS	17	smart00181	NULL
2200	311033452	Disease	p.Cys1249Ser	VAR_002323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002323	- Marfan syndrome (MFS) [MIM:154700]	SWISS	19	cd00053	NULL
2200	311033452	Disease	p.Cys1249Ser	VAR_002323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002323	- Marfan syndrome (MFS) [MIM:154700]	SWISS	10	pfam00008	NULL
2200	311033452	Disease	p.Tyr1261Cys	VAR_010778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010778	- Marfan syndrome (MFS) [MIM:154700]	SWISS	30	pfam07645	NULL
2200	311033452	Disease	p.Tyr1261Cys	VAR_010778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010778	- Marfan syndrome (MFS) [MIM:154700]	SWISS	46	smart00179	NULL
2200	311033452	Disease	p.Tyr1261Cys	VAR_010778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010778	- Marfan syndrome (MFS) [MIM:154700]	SWISS	51	cd00054	NULL
2200	311033452	Disease	p.Tyr1261Cys	VAR_010778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010778	- Marfan syndrome (MFS) [MIM:154700]	SWISS	48	smart00181	NULL
2200	311033452	Disease	p.Tyr1261Cys	VAR_010778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010778	- Marfan syndrome (MFS) [MIM:154700]	SWISS	49	cd00053	NULL
2200	311033452	Disease	p.Tyr1261Cys	VAR_010778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010778	- Marfan syndrome (MFS) [MIM:154700]	SWISS	33	pfam00008	NULL
2200	311033452	Disease	p.Tyr1261Asp	VAR_023878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023878	- Marfan syndrome (MFS) [MIM:154700]	SWISS	30	pfam07645	NULL
2200	311033452	Disease	p.Tyr1261Asp	VAR_023878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023878	- Marfan syndrome (MFS) [MIM:154700]	SWISS	46	smart00179	NULL
2200	311033452	Disease	p.Tyr1261Asp	VAR_023878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023878	- Marfan syndrome (MFS) [MIM:154700]	SWISS	51	cd00054	NULL
2200	311033452	Disease	p.Tyr1261Asp	VAR_023878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023878	- Marfan syndrome (MFS) [MIM:154700]	SWISS	48	smart00181	NULL
2200	311033452	Disease	p.Tyr1261Asp	VAR_023878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023878	- Marfan syndrome (MFS) [MIM:154700]	SWISS	49	cd00053	NULL
2200	311033452	Disease	p.Tyr1261Asp	VAR_023878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023878	- Marfan syndrome (MFS) [MIM:154700]	SWISS	33	pfam00008	NULL
2200	311033452	Disease	p.Cys1265Arg	VAR_018320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018320	- Marfan syndrome (MFS) [MIM:154700]	SWISS	38	pfam07645	NULL
2200	311033452	Disease	p.Cys1265Arg	VAR_018320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018320	- Marfan syndrome (MFS) [MIM:154700]	SWISS	55	smart00179	NULL
2200	311033452	Disease	p.Cys1265Arg	VAR_018320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018320	- Marfan syndrome (MFS) [MIM:154700]	SWISS	60	cd00054	NULL
2200	311033452	Disease	p.Cys1265Arg	VAR_018320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018320	- Marfan syndrome (MFS) [MIM:154700]	SWISS	57	smart00181	NULL
2200	311033452	Disease	p.Cys1265Arg	VAR_018320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018320	- Marfan syndrome (MFS) [MIM:154700]	SWISS	58	cd00053	NULL
2200	311033452	Disease	p.Cys1265Arg	VAR_018320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018320	- Marfan syndrome (MFS) [MIM:154700]	SWISS	37	pfam00008	NULL
2200	311033452	Disease	p.Cys1278Ser	VAR_023879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023879	- Marfan syndrome (MFS) [MIM:154700]	SWISS	83	smart00179	NULL
2200	311033452	Disease	p.Cys1278Ser	VAR_023879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023879	- Marfan syndrome (MFS) [MIM:154700]	SWISS	89	cd00054	NULL
2200	311033452	Disease	p.Cys1278Ser	VAR_023879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023879	- Marfan syndrome (MFS) [MIM:154700]	SWISS	82	smart00181	NULL
2200	311033452	Disease	p.Cys1278Ser	VAR_023879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023879	- Marfan syndrome (MFS) [MIM:154700]	SWISS	85	cd00053	NULL
2200	311033452	Disease	p.Cys1284Gly	VAR_023880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023880	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	cd00054	NULL
2200	311033452	Disease	p.Cys1284Gly	VAR_023880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023880	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	smart00179	NULL
2200	311033452	Disease	p.Cys1284Gly	VAR_023880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023880	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	pfam07645	NULL
2200	311033452	Disease	p.Cys1284Gly	VAR_023880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023880	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	cd00053	NULL
2200	311033452	Disease	p.Cys1284Gly	VAR_023880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023880	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	smart00181	NULL
2200	311033452	Disease	p.Glu1325Gln	VAR_018003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018003	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	cd00054	NULL
2200	311033452	Disease	p.Glu1325Gln	VAR_018003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018003	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	smart00179	NULL
2200	311033452	Disease	p.Glu1325Gln	VAR_018003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018003	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	pfam07645	NULL
2200	311033452	Disease	p.Cys1333Ser	VAR_023881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023881	- Marfan syndrome (MFS) [MIM:154700]	SWISS	10	pfam00008	NULL
2200	311033452	Disease	p.Cys1333Ser	VAR_023881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023881	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	cd00054	NULL
2200	311033452	Disease	p.Cys1333Ser	VAR_023881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023881	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	smart00179	NULL
2200	311033452	Disease	p.Cys1333Ser	VAR_023881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023881	- Marfan syndrome (MFS) [MIM:154700]	SWISS	14	pfam07645	NULL
2200	311033452	Disease	p.Cys1333Ser	VAR_023881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023881	- Marfan syndrome (MFS) [MIM:154700]	SWISS	19	cd00053	NULL
2200	311033452	Disease	p.Cys1333Ser	VAR_023881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023881	- Marfan syndrome (MFS) [MIM:154700]	SWISS	17	smart00181	NULL
2200	311033452	Disease	p.Ala1337Pro	VAR_018004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018004	- Marfan syndrome (MFS) [MIM:154700]	SWISS	16	pfam00008	NULL
2200	311033452	Disease	p.Ala1337Pro	VAR_018004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018004	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	cd00054	NULL
2200	311033452	Disease	p.Ala1337Pro	VAR_018004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018004	- Marfan syndrome (MFS) [MIM:154700]	SWISS	29	smart00179	NULL
2200	311033452	Disease	p.Ala1337Pro	VAR_018004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018004	- Marfan syndrome (MFS) [MIM:154700]	SWISS	21	pfam07645	NULL
2200	311033452	Disease	p.Ala1337Pro	VAR_018004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018004	- Marfan syndrome (MFS) [MIM:154700]	SWISS	26	cd00053	NULL
2200	311033452	Disease	p.Ala1337Pro	VAR_018004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018004	- Marfan syndrome (MFS) [MIM:154700]	SWISS	21	smart00181	NULL
2200	311033452	Disease	p.Cys1339Tyr	VAR_018005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018005	- Marfan syndrome (MFS) [MIM:154700]	SWISS	18	pfam00008	NULL
2200	311033452	Disease	p.Cys1339Tyr	VAR_018005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018005	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Cys1339Tyr	VAR_018005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018005	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys1339Tyr	VAR_018005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018005	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Cys1339Tyr	VAR_018005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018005	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys1339Tyr	VAR_018005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018005	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Glu1366Lys	VAR_018006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018006	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	pfam07645	NULL
2200	311033452	Disease	p.Glu1366Lys	VAR_018006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018006	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	cd00054	NULL
2200	311033452	Disease	p.Glu1366Lys	VAR_018006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018006	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	smart00179	NULL
2200	311033452	Disease	p.Cys1374Ser	VAR_018007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018007	- Marfan syndrome (MFS) [MIM:154700]	SWISS	14	pfam07645	NULL
2200	311033452	Disease	p.Cys1374Ser	VAR_018007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018007	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	cd00054	NULL
2200	311033452	Disease	p.Cys1374Ser	VAR_018007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018007	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	smart00179	NULL
2200	311033452	Disease	p.Cys1374Ser	VAR_018007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018007	- Marfan syndrome (MFS) [MIM:154700]	SWISS	10	pfam00008	NULL
2200	311033452	Disease	p.Cys1374Ser	VAR_018007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018007	- Marfan syndrome (MFS) [MIM:154700]	SWISS	17	smart00181	NULL
2200	311033452	Disease	p.Cys1374Ser	VAR_018007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018007	- Marfan syndrome (MFS) [MIM:154700]	SWISS	19	cd00053	NULL
2200	311033452	Disease	p.Asn1382Ser	VAR_002324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002324	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	pfam07645	NULL
2200	311033452	Disease	p.Asn1382Ser	VAR_002324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002324	- Marfan syndrome (MFS) [MIM:154700]	SWISS	38	cd00054	NULL
2200	311033452	Disease	p.Asn1382Ser	VAR_002324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002324	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	smart00179	NULL
2200	311033452	Disease	p.Asn1382Ser	VAR_002324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002324	- Marfan syndrome (MFS) [MIM:154700]	SWISS	20	pfam00008	NULL
2200	311033452	Disease	p.Asn1382Ser	VAR_002324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002324	- Marfan syndrome (MFS) [MIM:154700]	SWISS	29	smart00181	NULL
2200	311033452	Disease	p.Asn1382Ser	VAR_002324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002324	- Marfan syndrome (MFS) [MIM:154700]	SWISS	30	cd00053	NULL
2200	311033452	Disease	p.Cys1389Arg	VAR_018008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018008	- Marfan syndrome (MFS) [MIM:154700]	SWISS	32	pfam07645	NULL
2200	311033452	Disease	p.Cys1389Arg	VAR_018008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018008	- Marfan syndrome (MFS) [MIM:154700]	SWISS	53	cd00054	NULL
2200	311033452	Disease	p.Cys1389Arg	VAR_018008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018008	- Marfan syndrome (MFS) [MIM:154700]	SWISS	48	smart00179	NULL
2200	311033452	Disease	p.Cys1389Arg	VAR_018008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018008	- Marfan syndrome (MFS) [MIM:154700]	SWISS	35	pfam00008	NULL
2200	311033452	Disease	p.Cys1389Arg	VAR_018008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018008	- Marfan syndrome (MFS) [MIM:154700]	SWISS	50	smart00181	NULL
2200	311033452	Disease	p.Cys1389Arg	VAR_018008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018008	- Marfan syndrome (MFS) [MIM:154700]	SWISS	51	cd00053	NULL
2200	311033452	Disease	p.Cys1402Arg	VAR_023882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023882	- Marfan syndrome (MFS) [MIM:154700]	SWISS	89	cd00054	NULL
2200	311033452	Disease	p.Cys1402Arg	VAR_023882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023882	- Marfan syndrome (MFS) [MIM:154700]	SWISS	83	smart00179	NULL
2200	311033452	Disease	p.Cys1402Arg	VAR_023882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023882	- Marfan syndrome (MFS) [MIM:154700]	SWISS	82	smart00181	NULL
2200	311033452	Disease	p.Cys1402Arg	VAR_023882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023882	- Marfan syndrome (MFS) [MIM:154700]	SWISS	85	cd00053	NULL
2200	311033452	Disease	p.Asp1404Tyr	VAR_002325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002325	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Pro1424Ala	VAR_018010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018010	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	pfam07645	NULL
2200	311033452	Disease	p.Pro1424Ala	VAR_018010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018010	- Marfan syndrome (MFS) [MIM:154700]	SWISS	43	smart00179	NULL
2200	311033452	Disease	p.Pro1424Ala	VAR_018010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018010	- Marfan syndrome (MFS) [MIM:154700]	SWISS	40	cd00054	NULL
2200	311033452	Disease	p.Pro1424Ala	VAR_018010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018010	- Marfan syndrome (MFS) [MIM:154700]	SWISS	22	pfam00008	NULL
2200	311033452	Disease	p.Pro1424Ala	VAR_018010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018010	- Marfan syndrome (MFS) [MIM:154700]	SWISS	32	cd00053	NULL
2200	311033452	Disease	p.Pro1424Ala	VAR_018010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018010	- Marfan syndrome (MFS) [MIM:154700]	SWISS	45	smart00181	NULL
2200	311033452	Disease	p.Pro1424Ser	VAR_023883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023883	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	pfam07645	NULL
2200	311033452	Disease	p.Pro1424Ser	VAR_023883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023883	- Marfan syndrome (MFS) [MIM:154700]	SWISS	43	smart00179	NULL
2200	311033452	Disease	p.Pro1424Ser	VAR_023883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023883	- Marfan syndrome (MFS) [MIM:154700]	SWISS	40	cd00054	NULL
2200	311033452	Disease	p.Pro1424Ser	VAR_023883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023883	- Marfan syndrome (MFS) [MIM:154700]	SWISS	22	pfam00008	NULL
2200	311033452	Disease	p.Pro1424Ser	VAR_023883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023883	- Marfan syndrome (MFS) [MIM:154700]	SWISS	32	cd00053	NULL
2200	311033452	Disease	p.Pro1424Ser	VAR_023883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023883	- Marfan syndrome (MFS) [MIM:154700]	SWISS	45	smart00181	NULL
2200	311033452	Disease	p.Cys1429Ser	VAR_018011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018011	- Marfan syndrome (MFS) [MIM:154700]	SWISS	32	pfam07645	NULL
2200	311033452	Disease	p.Cys1429Ser	VAR_018011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018011	- Marfan syndrome (MFS) [MIM:154700]	SWISS	48	smart00179	NULL
2200	311033452	Disease	p.Cys1429Ser	VAR_018011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018011	- Marfan syndrome (MFS) [MIM:154700]	SWISS	53	cd00054	NULL
2200	311033452	Disease	p.Cys1429Ser	VAR_018011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018011	- Marfan syndrome (MFS) [MIM:154700]	SWISS	35	pfam00008	NULL
2200	311033452	Disease	p.Cys1429Ser	VAR_018011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018011	- Marfan syndrome (MFS) [MIM:154700]	SWISS	51	cd00053	NULL
2200	311033452	Disease	p.Cys1429Ser	VAR_018011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018011	- Marfan syndrome (MFS) [MIM:154700]	SWISS	50	smart00181	NULL
2200	311033452	Disease	p.Gly1475Glu	VAR_023884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023884	- Marfan syndrome (MFS) [MIM:154700]	SWISS	60	smart00179	NULL
2200	311033452	Disease	p.Gly1475Glu	VAR_023884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023884	- Marfan syndrome (MFS) [MIM:154700]	SWISS	68	cd00054	NULL
2200	311033452	Disease	p.Gly1475Glu	VAR_023884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023884	- Marfan syndrome (MFS) [MIM:154700]	SWISS	41	pfam07645	NULL
2200	311033452	Disease	p.Gly1475Glu	VAR_023884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023884	- Marfan syndrome (MFS) [MIM:154700]	SWISS	64	cd00053	NULL
2200	311033452	Disease	p.Gly1475Glu	VAR_023884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023884	- Marfan syndrome (MFS) [MIM:154700]	SWISS	64	smart00181	NULL
2200	311033452	Disease	p.Gly1475Ser	VAR_023885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023885	- Marfan syndrome (MFS) [MIM:154700]	SWISS	60	smart00179	NULL
2200	311033452	Disease	p.Gly1475Ser	VAR_023885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023885	- Marfan syndrome (MFS) [MIM:154700]	SWISS	68	cd00054	NULL
2200	311033452	Disease	p.Gly1475Ser	VAR_023885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023885	- Marfan syndrome (MFS) [MIM:154700]	SWISS	41	pfam07645	NULL
2200	311033452	Disease	p.Gly1475Ser	VAR_023885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023885	- Marfan syndrome (MFS) [MIM:154700]	SWISS	64	cd00053	NULL
2200	311033452	Disease	p.Gly1475Ser	VAR_023885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023885	- Marfan syndrome (MFS) [MIM:154700]	SWISS	64	smart00181	NULL
2200	311033452	Disease	p.Cys1513Arg	VAR_002326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002326	- Marfan syndrome (MFS) [MIM:154700]	SWISS	58	cd00053	NULL
2200	311033452	Disease	p.Cys1513Arg	VAR_002326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002326	- Marfan syndrome (MFS) [MIM:154700]	SWISS	57	smart00181	NULL
2200	311033452	Disease	p.Cys1513Arg	VAR_002326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002326	- Marfan syndrome (MFS) [MIM:154700]	SWISS	60	cd00054	NULL
2200	311033452	Disease	p.Cys1513Arg	VAR_002326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002326	- Marfan syndrome (MFS) [MIM:154700]	SWISS	55	smart00179	NULL
2200	311033452	Disease	p.Cys1513Arg	VAR_002326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002326	- Marfan syndrome (MFS) [MIM:154700]	SWISS	38	pfam07645	NULL
2200	311033452	Disease	p.Arg1530Cys	VAR_018012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018012	- Isolated ectopia lentis (EL) [MIM:129600]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Cys1564Phe	VAR_023886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023886	- Marfan syndrome (MFS) [MIM:154700]	SWISS	21	pfam00683	NULL
2200	311033452	Disease	p.Cys1564Tyr	VAR_018013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018013	- Marfan syndrome (MFS) [MIM:154700]	SWISS	21	pfam00683	NULL
2200	311033452	Disease	p.Met1576Thr	VAR_023887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023887	- Marfan syndrome (MFS) [MIM:154700]	SWISS	40	pfam00683	NULL
2200	311033452	Disease	p.Cys1589Phe	VAR_002327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002327	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Cys1610Gly	VAR_002328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002328	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	pfam07645	NULL
2200	311033452	Disease	p.Cys1610Gly	VAR_002328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002328	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	cd00054	NULL
2200	311033452	Disease	p.Cys1610Gly	VAR_002328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002328	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	smart00179	NULL
2200	311033452	Disease	p.Cys1610Gly	VAR_002328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002328	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	cd00053	NULL
2200	311033452	Disease	p.Cys1610Gly	VAR_002328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002328	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	smart00181	NULL
2200	311033452	Disease	p.Cys1631Gly	VAR_023888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023888	- Marfan syndrome (MFS) [MIM:154700]	SWISS	32	pfam07645	NULL
2200	311033452	Disease	p.Cys1631Gly	VAR_023888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023888	- Marfan syndrome (MFS) [MIM:154700]	SWISS	53	cd00054	NULL
2200	311033452	Disease	p.Cys1631Gly	VAR_023888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023888	- Marfan syndrome (MFS) [MIM:154700]	SWISS	48	smart00179	NULL
2200	311033452	Disease	p.Cys1631Gly	VAR_023888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023888	- Marfan syndrome (MFS) [MIM:154700]	SWISS	35	pfam00008	NULL
2200	311033452	Disease	p.Cys1631Gly	VAR_023888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023888	- Marfan syndrome (MFS) [MIM:154700]	SWISS	51	cd00053	NULL
2200	311033452	Disease	p.Cys1631Gly	VAR_023888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023888	- Marfan syndrome (MFS) [MIM:154700]	SWISS	50	smart00181	NULL
2200	311033452	Disease	p.Cys1663Arg	VAR_002329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002329	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Cys1663Arg	VAR_002329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002329	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Cys1663Arg	VAR_002329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002329	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys1663Arg	VAR_002329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002329	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys1663Arg	VAR_002329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002329	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Cys1663Tyr	VAR_023889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023889	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Cys1663Tyr	VAR_023889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023889	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Cys1663Tyr	VAR_023889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023889	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys1663Tyr	VAR_023889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023889	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys1663Tyr	VAR_023889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023889	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Cys1770Phe	VAR_018015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018015	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	smart00181	NULL
2200	311033452	Disease	p.Cys1770Phe	VAR_018015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018015	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	cd00053	NULL
2200	311033452	Disease	p.Cys1770Phe	VAR_018015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018015	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	pfam07645	NULL
2200	311033452	Disease	p.Cys1770Phe	VAR_018015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018015	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	smart00179	NULL
2200	311033452	Disease	p.Cys1770Phe	VAR_018015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018015	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	cd00054	NULL
2200	311033452	Disease	p.Arg1790Pro	VAR_018016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018016	- Marfan syndrome (MFS) [MIM:154700]	SWISS	49	smart00181	NULL
2200	311033452	Disease	p.Arg1790Pro	VAR_018016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018016	- Marfan syndrome (MFS) [MIM:154700]	SWISS	50	cd00053	NULL
2200	311033452	Disease	p.Arg1790Pro	VAR_018016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018016	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	pfam00008	NULL
2200	311033452	Disease	p.Arg1790Pro	VAR_018016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018016	- Marfan syndrome (MFS) [MIM:154700]	SWISS	31	pfam07645	NULL
2200	311033452	Disease	p.Arg1790Pro	VAR_018016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018016	- Marfan syndrome (MFS) [MIM:154700]	SWISS	47	smart00179	NULL
2200	311033452	Disease	p.Arg1790Pro	VAR_018016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018016	- Marfan syndrome (MFS) [MIM:154700]	SWISS	52	cd00054	NULL
2200	311033452	Disease	p.Cys1791Arg	VAR_023890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023890	- Marfan syndrome (MFS) [MIM:154700]	SWISS	50	smart00181	NULL
2200	311033452	Disease	p.Cys1791Arg	VAR_023890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023890	- Marfan syndrome (MFS) [MIM:154700]	SWISS	51	cd00053	NULL
2200	311033452	Disease	p.Cys1791Arg	VAR_023890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023890	- Marfan syndrome (MFS) [MIM:154700]	SWISS	35	pfam00008	NULL
2200	311033452	Disease	p.Cys1791Arg	VAR_023890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023890	- Marfan syndrome (MFS) [MIM:154700]	SWISS	32	pfam07645	NULL
2200	311033452	Disease	p.Cys1791Arg	VAR_023890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023890	- Marfan syndrome (MFS) [MIM:154700]	SWISS	48	smart00179	NULL
2200	311033452	Disease	p.Cys1791Arg	VAR_023890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023890	- Marfan syndrome (MFS) [MIM:154700]	SWISS	53	cd00054	NULL
2200	311033452	Disease	p.Cys1791Tyr	VAR_018017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018017	- Marfan syndrome (MFS) [MIM:154700]	SWISS	50	smart00181	NULL
2200	311033452	Disease	p.Cys1791Tyr	VAR_018017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018017	- Marfan syndrome (MFS) [MIM:154700]	SWISS	51	cd00053	NULL
2200	311033452	Disease	p.Cys1791Tyr	VAR_018017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018017	- Marfan syndrome (MFS) [MIM:154700]	SWISS	35	pfam00008	NULL
2200	311033452	Disease	p.Cys1791Tyr	VAR_018017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018017	- Marfan syndrome (MFS) [MIM:154700]	SWISS	32	pfam07645	NULL
2200	311033452	Disease	p.Cys1791Tyr	VAR_018017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018017	- Marfan syndrome (MFS) [MIM:154700]	SWISS	48	smart00179	NULL
2200	311033452	Disease	p.Cys1791Tyr	VAR_018017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018017	- Marfan syndrome (MFS) [MIM:154700]	SWISS	53	cd00054	NULL
2200	311033452	Disease	p.Cys1793Trp	VAR_018018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018018	- Marfan syndrome (MFS) [MIM:154700]	SWISS	57	smart00181	NULL
2200	311033452	Disease	p.Cys1793Trp	VAR_018018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018018	- Marfan syndrome (MFS) [MIM:154700]	SWISS	58	cd00053	NULL
2200	311033452	Disease	p.Cys1793Trp	VAR_018018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018018	- Marfan syndrome (MFS) [MIM:154700]	SWISS	37	pfam00008	NULL
2200	311033452	Disease	p.Cys1793Trp	VAR_018018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018018	- Marfan syndrome (MFS) [MIM:154700]	SWISS	38	pfam07645	NULL
2200	311033452	Disease	p.Cys1793Trp	VAR_018018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018018	- Marfan syndrome (MFS) [MIM:154700]	SWISS	55	smart00179	NULL
2200	311033452	Disease	p.Cys1793Trp	VAR_018018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018018	- Marfan syndrome (MFS) [MIM:154700]	SWISS	60	cd00054	NULL
2200	311033452	Disease	p.Gly1796Glu	VAR_018019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018019	- Marfan syndrome (MFS) [MIM:154700]	SWISS	64	smart00181	NULL
2200	311033452	Disease	p.Gly1796Glu	VAR_018019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018019	- Marfan syndrome (MFS) [MIM:154700]	SWISS	64	cd00053	NULL
2200	311033452	Disease	p.Gly1796Glu	VAR_018019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018019	- Marfan syndrome (MFS) [MIM:154700]	SWISS	40	pfam00008	NULL
2200	311033452	Disease	p.Gly1796Glu	VAR_018019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018019	- Marfan syndrome (MFS) [MIM:154700]	SWISS	41	pfam07645	NULL
2200	311033452	Disease	p.Gly1796Glu	VAR_018019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018019	- Marfan syndrome (MFS) [MIM:154700]	SWISS	60	smart00179	NULL
2200	311033452	Disease	p.Gly1796Glu	VAR_018019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018019	- Marfan syndrome (MFS) [MIM:154700]	SWISS	68	cd00054	NULL
2200	311033452	Disease	p.Cys1806Ser	VAR_018020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018020	- Marfan syndrome (MFS) [MIM:154700]	SWISS	82	smart00181	NULL
2200	311033452	Disease	p.Cys1806Ser	VAR_018020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018020	- Marfan syndrome (MFS) [MIM:154700]	SWISS	85	cd00053	NULL
2200	311033452	Disease	p.Cys1806Ser	VAR_018020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018020	- Marfan syndrome (MFS) [MIM:154700]	SWISS	83	smart00179	NULL
2200	311033452	Disease	p.Cys1806Ser	VAR_018020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018020	- Marfan syndrome (MFS) [MIM:154700]	SWISS	89	cd00054	NULL
2200	311033452	Disease	p.Cys1806Tyr	VAR_023891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023891	- Marfan syndrome (MFS) [MIM:154700]	SWISS	82	smart00181	NULL
2200	311033452	Disease	p.Cys1806Tyr	VAR_023891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023891	- Marfan syndrome (MFS) [MIM:154700]	SWISS	85	cd00053	NULL
2200	311033452	Disease	p.Cys1806Tyr	VAR_023891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023891	- Marfan syndrome (MFS) [MIM:154700]	SWISS	83	smart00179	NULL
2200	311033452	Disease	p.Cys1806Tyr	VAR_023891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023891	- Marfan syndrome (MFS) [MIM:154700]	SWISS	89	cd00054	NULL
2200	311033452	Disease	p.Cys1833Ser	VAR_010779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010779	- Marfan syndrome (MFS) [MIM:154700]	SWISS	48	smart00179	NULL
2200	311033452	Disease	p.Cys1833Ser	VAR_010779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010779	- Marfan syndrome (MFS) [MIM:154700]	SWISS	53	cd00054	NULL
2200	311033452	Disease	p.Cys1833Ser	VAR_010779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010779	- Marfan syndrome (MFS) [MIM:154700]	SWISS	32	pfam07645	NULL
2200	311033452	Disease	p.Cys1833Ser	VAR_010779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010779	- Marfan syndrome (MFS) [MIM:154700]	SWISS	51	cd00053	NULL
2200	311033452	Disease	p.Cys1833Ser	VAR_010779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010779	- Marfan syndrome (MFS) [MIM:154700]	SWISS	50	smart00181	NULL
2200	311033452	Disease	p.Cys1835Tyr	VAR_018021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018021	- Marfan syndrome (MFS) [MIM:154700]	SWISS	55	smart00179	NULL
2200	311033452	Disease	p.Cys1835Tyr	VAR_018021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018021	- Marfan syndrome (MFS) [MIM:154700]	SWISS	60	cd00054	NULL
2200	311033452	Disease	p.Cys1835Tyr	VAR_018021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018021	- Marfan syndrome (MFS) [MIM:154700]	SWISS	38	pfam07645	NULL
2200	311033452	Disease	p.Cys1835Tyr	VAR_018021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018021	- Marfan syndrome (MFS) [MIM:154700]	SWISS	58	cd00053	NULL
2200	311033452	Disease	p.Cys1835Tyr	VAR_018021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018021	- Marfan syndrome (MFS) [MIM:154700]	SWISS	57	smart00181	NULL
2200	311033452	Disease	p.Pro1837Ser	VAR_002330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002330	- Marfan syndrome (MFS) [MIM:154700]	SWISS	57	smart00179	NULL
2200	311033452	Disease	p.Pro1837Ser	VAR_002330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002330	- Marfan syndrome (MFS) [MIM:154700]	SWISS	62	cd00054	NULL
2200	311033452	Disease	p.Pro1837Ser	VAR_002330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002330	- Marfan syndrome (MFS) [MIM:154700]	SWISS	40	pfam07645	NULL
2200	311033452	Disease	p.Pro1837Ser	VAR_002330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002330	- Marfan syndrome (MFS) [MIM:154700]	SWISS	63	cd00053	NULL
2200	311033452	Disease	p.Pro1837Ser	VAR_002330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002330	- Marfan syndrome (MFS) [MIM:154700]	SWISS	63	smart00181	NULL
2200	311033452	Disease	p.Cys1876Tyr	VAR_023892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023892	- Marfan syndrome (MFS) [MIM:154700]	SWISS	55	smart00179	NULL
2200	311033452	Disease	p.Cys1876Tyr	VAR_023892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023892	- Marfan syndrome (MFS) [MIM:154700]	SWISS	60	cd00054	NULL
2200	311033452	Disease	p.Cys1876Tyr	VAR_023892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023892	- Marfan syndrome (MFS) [MIM:154700]	SWISS	38	pfam07645	NULL
2200	311033452	Disease	p.Cys1876Tyr	VAR_023892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023892	- Marfan syndrome (MFS) [MIM:154700]	SWISS	57	smart00181	NULL
2200	311033452	Disease	p.Cys1876Tyr	VAR_023892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023892	- Marfan syndrome (MFS) [MIM:154700]	SWISS	58	cd00053	NULL
2200	311033452	Disease	p.Thr1887Ile	VAR_023893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023893	- Marfan syndrome (MFS) [MIM:154700]	SWISS	81	smart00179	NULL
2200	311033452	Disease	p.Thr1887Ile	VAR_023893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023893	- Marfan syndrome (MFS) [MIM:154700]	SWISS	87	cd00054	NULL
2200	311033452	Disease	p.Thr1887Ile	VAR_023893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023893	- Marfan syndrome (MFS) [MIM:154700]	SWISS	55	pfam07645	NULL
2200	311033452	Disease	p.Thr1887Ile	VAR_023893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023893	- Marfan syndrome (MFS) [MIM:154700]	SWISS	80	smart00181	NULL
2200	311033452	Disease	p.Thr1887Ile	VAR_023893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023893	- Marfan syndrome (MFS) [MIM:154700]	SWISS	83	cd00053	NULL
2200	311033452	Disease	p.Asn1893Lys	VAR_002331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002331	- Marfan syndrome (MFS) [MIM:154700]	SWISS	3	pfam07645	NULL
2200	311033452	Disease	p.Asn1893Lys	VAR_002331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002331	- Marfan syndrome (MFS) [MIM:154700]	SWISS	3	cd00054	NULL
2200	311033452	Disease	p.Asn1893Lys	VAR_002331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002331	- Marfan syndrome (MFS) [MIM:154700]	SWISS	3	smart00179	NULL
2200	311033452	Disease	p.Cys1895Arg	VAR_023894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023894	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	smart00181	NULL
2200	311033452	Disease	p.Cys1895Arg	VAR_023894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023894	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	cd00053	NULL
2200	311033452	Disease	p.Cys1895Arg	VAR_023894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023894	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	pfam07645	NULL
2200	311033452	Disease	p.Cys1895Arg	VAR_023894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023894	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	cd00054	NULL
2200	311033452	Disease	p.Cys1895Arg	VAR_023894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023894	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	smart00179	NULL
2200	311033452	Disease	p.Cys1900Tyr	VAR_023895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023895	- Marfan syndrome (MFS) [MIM:154700]	SWISS	17	smart00181	NULL
2200	311033452	Disease	p.Cys1900Tyr	VAR_023895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023895	- Marfan syndrome (MFS) [MIM:154700]	SWISS	19	cd00053	NULL
2200	311033452	Disease	p.Cys1900Tyr	VAR_023895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023895	- Marfan syndrome (MFS) [MIM:154700]	SWISS	14	pfam07645	NULL
2200	311033452	Disease	p.Cys1900Tyr	VAR_023895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023895	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	cd00054	NULL
2200	311033452	Disease	p.Cys1900Tyr	VAR_023895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023895	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	smart00179	NULL
2200	311033452	Disease	p.Ile1909Thr	VAR_018022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018022	- Marfan syndrome (MFS) [MIM:154700]	SWISS	45	smart00181	NULL
2200	311033452	Disease	p.Ile1909Thr	VAR_018022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018022	- Marfan syndrome (MFS) [MIM:154700]	SWISS	32	cd00053	NULL
2200	311033452	Disease	p.Ile1909Thr	VAR_018022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018022	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	pfam07645	NULL
2200	311033452	Disease	p.Ile1909Thr	VAR_018022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018022	- Marfan syndrome (MFS) [MIM:154700]	SWISS	40	cd00054	NULL
2200	311033452	Disease	p.Ile1909Thr	VAR_018022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018022	- Marfan syndrome (MFS) [MIM:154700]	SWISS	43	smart00179	NULL
2200	311033452	Disease	p.Arg1915Ser	VAR_018023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018023	- Marfan syndrome (MFS) [MIM:154700]	SWISS	56	smart00181	NULL
2200	311033452	Disease	p.Arg1915Ser	VAR_018023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018023	- Marfan syndrome (MFS) [MIM:154700]	SWISS	52	cd00053	NULL
2200	311033452	Disease	p.Arg1915Ser	VAR_018023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018023	- Marfan syndrome (MFS) [MIM:154700]	SWISS	33	pfam07645	NULL
2200	311033452	Disease	p.Arg1915Ser	VAR_018023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018023	- Marfan syndrome (MFS) [MIM:154700]	SWISS	54	cd00054	NULL
2200	311033452	Disease	p.Arg1915Ser	VAR_018023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018023	- Marfan syndrome (MFS) [MIM:154700]	SWISS	49	smart00179	NULL
2200	311033452	Disease	p.Cys1928Gly	VAR_023896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023896	- Marfan syndrome (MFS) [MIM:154700]	SWISS	82	smart00181	NULL
2200	311033452	Disease	p.Cys1928Gly	VAR_023896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023896	- Marfan syndrome (MFS) [MIM:154700]	SWISS	85	cd00053	NULL
2200	311033452	Disease	p.Cys1928Gly	VAR_023896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023896	- Marfan syndrome (MFS) [MIM:154700]	SWISS	89	cd00054	NULL
2200	311033452	Disease	p.Cys1928Gly	VAR_023896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023896	- Marfan syndrome (MFS) [MIM:154700]	SWISS	83	smart00179	NULL
2200	311033452	Disease	p.Cys1928Arg	VAR_002332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002332	- Marfan syndrome (MFS) [MIM:154700]	SWISS	82	smart00181	NULL
2200	311033452	Disease	p.Cys1928Arg	VAR_002332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002332	- Marfan syndrome (MFS) [MIM:154700]	SWISS	85	cd00053	NULL
2200	311033452	Disease	p.Cys1928Arg	VAR_002332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002332	- Marfan syndrome (MFS) [MIM:154700]	SWISS	89	cd00054	NULL
2200	311033452	Disease	p.Cys1928Arg	VAR_002332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002332	- Marfan syndrome (MFS) [MIM:154700]	SWISS	83	smart00179	NULL
2200	311033452	Disease	p.Cys1928Tyr	VAR_023897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023897	- Marfan syndrome (MFS) [MIM:154700]	SWISS	82	smart00181	NULL
2200	311033452	Disease	p.Cys1928Tyr	VAR_023897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023897	- Marfan syndrome (MFS) [MIM:154700]	SWISS	85	cd00053	NULL
2200	311033452	Disease	p.Cys1928Tyr	VAR_023897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023897	- Marfan syndrome (MFS) [MIM:154700]	SWISS	89	cd00054	NULL
2200	311033452	Disease	p.Cys1928Tyr	VAR_023897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023897	- Marfan syndrome (MFS) [MIM:154700]	SWISS	83	smart00179	NULL
2200	311033452	Disease	p.Cys1971Tyr	VAR_018025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018025	- Marfan syndrome (MFS) [MIM:154700]	SWISS	83	smart00179	NULL
2200	311033452	Disease	p.Cys1971Tyr	VAR_018025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018025	- Marfan syndrome (MFS) [MIM:154700]	SWISS	89	cd00054	NULL
2200	311033452	Disease	p.Cys1971Tyr	VAR_018025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018025	- Marfan syndrome (MFS) [MIM:154700]	SWISS	85	cd00053	NULL
2200	311033452	Disease	p.Cys1971Tyr	VAR_018025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018025	- Marfan syndrome (MFS) [MIM:154700]	SWISS	82	smart00181	NULL
2200	311033452	Disease	p.Cys1977Tyr	VAR_018026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018026	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	smart00181	NULL
2200	311033452	Disease	p.Cys1977Tyr	VAR_018026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018026	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	cd00053	NULL
2200	311033452	Disease	p.Cys1977Tyr	VAR_018026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018026	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	pfam07645	NULL
2200	311033452	Disease	p.Cys1977Tyr	VAR_018026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018026	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	cd00054	NULL
2200	311033452	Disease	p.Cys1977Tyr	VAR_018026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018026	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	smart00179	NULL
2200	311033452	Disease	p.Cys1998Tyr	VAR_018027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018027	- Marfan syndrome (MFS) [MIM:154700]	SWISS	35	pfam00008	NULL
2200	311033452	Disease	p.Cys1998Tyr	VAR_018027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018027	- Marfan syndrome (MFS) [MIM:154700]	SWISS	50	smart00181	NULL
2200	311033452	Disease	p.Cys1998Tyr	VAR_018027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018027	- Marfan syndrome (MFS) [MIM:154700]	SWISS	51	cd00053	NULL
2200	311033452	Disease	p.Cys1998Tyr	VAR_018027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018027	- Marfan syndrome (MFS) [MIM:154700]	SWISS	32	pfam07645	NULL
2200	311033452	Disease	p.Cys1998Tyr	VAR_018027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018027	- Marfan syndrome (MFS) [MIM:154700]	SWISS	53	cd00054	NULL
2200	311033452	Disease	p.Cys1998Tyr	VAR_018027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018027	- Marfan syndrome (MFS) [MIM:154700]	SWISS	48	smart00179	NULL
2200	311033452	Disease	p.Cys2038Tyr	VAR_023898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023898	rs363804 Marfan syndrome (MFS) [MIM:154700]	SWISS	50	smart00181	NULL
2200	311033452	Disease	p.Cys2038Tyr	VAR_023898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023898	rs363804 Marfan syndrome (MFS) [MIM:154700]	SWISS	51	cd00053	NULL
2200	311033452	Disease	p.Cys2038Tyr	VAR_023898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023898	rs363804 Marfan syndrome (MFS) [MIM:154700]	SWISS	53	cd00054	NULL
2200	311033452	Disease	p.Cys2038Tyr	VAR_023898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023898	rs363804 Marfan syndrome (MFS) [MIM:154700]	SWISS	48	smart00179	NULL
2200	311033452	Disease	p.Cys2038Tyr	VAR_023898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023898	rs363804 Marfan syndrome (MFS) [MIM:154700]	SWISS	32	pfam07645	NULL
2200	311033452	Disease	p.Cys2038Tyr	VAR_023898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023898	rs363804 Marfan syndrome (MFS) [MIM:154700]	SWISS	35	pfam00008	NULL
2200	311033452	Disease	p.Cys2085Arg	VAR_023899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023899	- Marfan syndrome (MFS) [MIM:154700]	SWISS	21	pfam00683	NULL
2200	311033452	Disease	p.Cys2099Trp	VAR_002333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002333	- Marfan syndrome (MFS) [MIM:154700]	SWISS	41	pfam00683	NULL
2200	311033452	Disease	p.Cys2111Arg	VAR_018029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018029	rs363815 Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Cys2111Tyr	VAR_002334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002334	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Asp2127Glu	VAR_002335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002335	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Cys2142Tyr	VAR_010780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010780	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys2142Tyr	VAR_010780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010780	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Cys2142Tyr	VAR_010780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010780	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Cys2142Tyr	VAR_010780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010780	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys2142Tyr	VAR_010780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010780	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Asn2144Ser	VAR_002336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002336	- Marfan syndrome (MFS) [MIM:154700]	SWISS	30	cd00053	NULL
2200	311033452	Disease	p.Asn2144Ser	VAR_002336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002336	- Marfan syndrome (MFS) [MIM:154700]	SWISS	29	smart00181	NULL
2200	311033452	Disease	p.Asn2144Ser	VAR_002336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002336	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	pfam07645	NULL
2200	311033452	Disease	p.Asn2144Ser	VAR_002336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002336	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	smart00179	NULL
2200	311033452	Disease	p.Asn2144Ser	VAR_002336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002336	- Marfan syndrome (MFS) [MIM:154700]	SWISS	38	cd00054	NULL
2200	311033452	Disease	p.Cys2151Trp	VAR_002337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002337	- Marfan syndrome (MFS) [MIM:154700]	SWISS	51	cd00053	NULL
2200	311033452	Disease	p.Cys2151Trp	VAR_002337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002337	- Marfan syndrome (MFS) [MIM:154700]	SWISS	50	smart00181	NULL
2200	311033452	Disease	p.Cys2151Trp	VAR_002337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002337	- Marfan syndrome (MFS) [MIM:154700]	SWISS	32	pfam07645	NULL
2200	311033452	Disease	p.Cys2151Trp	VAR_002337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002337	- Marfan syndrome (MFS) [MIM:154700]	SWISS	48	smart00179	NULL
2200	311033452	Disease	p.Cys2151Trp	VAR_002337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002337	- Marfan syndrome (MFS) [MIM:154700]	SWISS	53	cd00054	NULL
2200	311033452	Disease	p.Pro2154Arg	VAR_018030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018030	- Isolated ectopia lentis (EL) [MIM:129600]	SWISS	59	cd00053	NULL
2200	311033452	Disease	p.Pro2154Arg	VAR_018030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018030	- Isolated ectopia lentis (EL) [MIM:129600]	SWISS	58	smart00181	NULL
2200	311033452	Disease	p.Pro2154Arg	VAR_018030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018030	- Isolated ectopia lentis (EL) [MIM:129600]	SWISS	39	pfam07645	NULL
2200	311033452	Disease	p.Pro2154Arg	VAR_018030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018030	- Isolated ectopia lentis (EL) [MIM:129600]	SWISS	56	smart00179	NULL
2200	311033452	Disease	p.Pro2154Arg	VAR_018030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018030	- Isolated ectopia lentis (EL) [MIM:129600]	SWISS	61	cd00054	NULL
2200	311033452	Disease	p.Ala2160Pro	VAR_023900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023900	- Marfan syndrome (MFS) [MIM:154700]	SWISS	68	cd00053	NULL
2200	311033452	Disease	p.Ala2160Pro	VAR_023900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023900	- Marfan syndrome (MFS) [MIM:154700]	SWISS	78	smart00181	NULL
2200	311033452	Disease	p.Ala2160Pro	VAR_023900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023900	- Marfan syndrome (MFS) [MIM:154700]	SWISS	53	pfam07645	NULL
2200	311033452	Disease	p.Ala2160Pro	VAR_023900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023900	- Marfan syndrome (MFS) [MIM:154700]	SWISS	66	smart00179	NULL
2200	311033452	Disease	p.Ala2160Pro	VAR_023900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023900	- Marfan syndrome (MFS) [MIM:154700]	SWISS	85	cd00054	NULL
2200	311033452	Disease	p.Cys2221Phe	VAR_023901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023901	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys2221Phe	VAR_023901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023901	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Cys2221Phe	VAR_023901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023901	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Cys2221Phe	VAR_023901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023901	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Cys2221Phe	VAR_023901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023901	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys2221Gly	VAR_018031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018031	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys2221Gly	VAR_018031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018031	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Cys2221Gly	VAR_018031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018031	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Cys2221Gly	VAR_018031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018031	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Cys2221Gly	VAR_018031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018031	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys2221Ser	VAR_002338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002338	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys2221Ser	VAR_002338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002338	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Cys2221Ser	VAR_002338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002338	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Cys2221Ser	VAR_002338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002338	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Cys2221Ser	VAR_002338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002338	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Asn2223His	VAR_018032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018032	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	smart00179	NULL
2200	311033452	Disease	p.Asn2223His	VAR_018032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018032	- Marfan syndrome (MFS) [MIM:154700]	SWISS	38	cd00054	NULL
2200	311033452	Disease	p.Asn2223His	VAR_018032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018032	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	pfam07645	NULL
2200	311033452	Disease	p.Asn2223His	VAR_018032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018032	- Marfan syndrome (MFS) [MIM:154700]	SWISS	29	smart00181	NULL
2200	311033452	Disease	p.Asn2223His	VAR_018032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018032	- Marfan syndrome (MFS) [MIM:154700]	SWISS	30	cd00053	NULL
2200	311033452	Disease	p.Cys2251Arg	VAR_023902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023902	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	cd00053	NULL
2200	311033452	Disease	p.Cys2251Arg	VAR_023902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023902	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	smart00181	NULL
2200	311033452	Disease	p.Cys2251Arg	VAR_023902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023902	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	pfam07645	NULL
2200	311033452	Disease	p.Cys2251Arg	VAR_023902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023902	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	cd00054	NULL
2200	311033452	Disease	p.Cys2251Arg	VAR_023902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023902	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	smart00179	NULL
2200	311033452	Disease	p.Cys2258Arg	VAR_002339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002339	- Marfan syndrome (MFS) [MIM:154700]	SWISS	19	cd00053	NULL
2200	311033452	Disease	p.Cys2258Arg	VAR_002339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002339	- Marfan syndrome (MFS) [MIM:154700]	SWISS	17	smart00181	NULL
2200	311033452	Disease	p.Cys2258Arg	VAR_002339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002339	- Marfan syndrome (MFS) [MIM:154700]	SWISS	14	pfam07645	NULL
2200	311033452	Disease	p.Cys2258Arg	VAR_002339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002339	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	cd00054	NULL
2200	311033452	Disease	p.Cys2258Arg	VAR_002339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002339	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	smart00179	NULL
2200	311033452	Disease	p.Ile2269Thr	VAR_018033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018033	- Marfan syndrome (MFS) [MIM:154700]	SWISS	32	cd00053	NULL
2200	311033452	Disease	p.Ile2269Thr	VAR_018033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018033	- Marfan syndrome (MFS) [MIM:154700]	SWISS	45	smart00181	NULL
2200	311033452	Disease	p.Ile2269Thr	VAR_018033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018033	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	pfam07645	NULL
2200	311033452	Disease	p.Ile2269Thr	VAR_018033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018033	- Marfan syndrome (MFS) [MIM:154700]	SWISS	40	cd00054	NULL
2200	311033452	Disease	p.Ile2269Thr	VAR_018033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018033	- Marfan syndrome (MFS) [MIM:154700]	SWISS	43	smart00179	NULL
2200	311033452	Disease	p.Arg2282Trp	VAR_002340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002340	- Marfan syndrome (MFS) [MIM:154700]	SWISS	67	cd00053	NULL
2200	311033452	Disease	p.Arg2282Trp	VAR_002340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002340	- Marfan syndrome (MFS) [MIM:154700]	SWISS	68	smart00181	NULL
2200	311033452	Disease	p.Arg2282Trp	VAR_002340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002340	- Marfan syndrome (MFS) [MIM:154700]	SWISS	44	pfam07645	NULL
2200	311033452	Disease	p.Arg2282Trp	VAR_002340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002340	- Marfan syndrome (MFS) [MIM:154700]	SWISS	71	cd00054	NULL
2200	311033452	Disease	p.Arg2282Trp	VAR_002340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002340	- Marfan syndrome (MFS) [MIM:154700]	SWISS	65	smart00179	NULL
2200	311033452	Disease	p.Cys2307Ser	VAR_002341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002341	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys2307Ser	VAR_002341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002341	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Cys2307Ser	VAR_002341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002341	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Cys2307Ser	VAR_002341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002341	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys2307Ser	VAR_002341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002341	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Arg2335Trp	VAR_018034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018034	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Cys2339Tyr	VAR_018035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018035	- Isolated ectopia lentis (EL) [MIM:129600]	SWISS	No Domain	N/A	NULL
2200	311033452	Disease	p.Ala2385Thr	VAR_023903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023903	- Marfan syndrome (MFS) [MIM:154700]	SWISS	49	pfam00683	NULL
2200	311033452	Disease	p.Cys2406Tyr	VAR_018036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018036	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	pfam07645	NULL
2200	311033452	Disease	p.Cys2406Tyr	VAR_018036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018036	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	cd00054	NULL
2200	311033452	Disease	p.Cys2406Tyr	VAR_018036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018036	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	smart00179	NULL
2200	311033452	Disease	p.Cys2406Tyr	VAR_018036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018036	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	cd00053	NULL
2200	311033452	Disease	p.Cys2406Tyr	VAR_018036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018036	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	smart00181	NULL
2200	311033452	Disease	p.Cys2442Trp	VAR_018037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018037	- Marfan syndrome (MFS) [MIM:154700]	SWISS	89	cd00054	NULL
2200	311033452	Disease	p.Cys2442Trp	VAR_018037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018037	- Marfan syndrome (MFS) [MIM:154700]	SWISS	83	smart00179	NULL
2200	311033452	Disease	p.Cys2442Trp	VAR_018037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018037	- Marfan syndrome (MFS) [MIM:154700]	SWISS	85	cd00053	NULL
2200	311033452	Disease	p.Cys2442Trp	VAR_018037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018037	- Marfan syndrome (MFS) [MIM:154700]	SWISS	82	smart00181	NULL
2200	311033452	Disease	p.Glu2447Lys	VAR_002342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002342	- Isolated ectopia lentis (EL) [MIM:129600]	SWISS	4	pfam07645	NULL
2200	311033452	Disease	p.Glu2447Lys	VAR_002342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002342	- Isolated ectopia lentis (EL) [MIM:129600]	SWISS	4	smart00179	NULL
2200	311033452	Disease	p.Glu2447Lys	VAR_002342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002342	- Isolated ectopia lentis (EL) [MIM:129600]	SWISS	4	cd00054	NULL
2200	311033452	Disease	p.Tyr2474Cys	VAR_018038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018038	- Marfan syndrome (MFS) [MIM:154700]	SWISS	41	pfam00008	NULL
2200	311033452	Disease	p.Tyr2474Cys	VAR_018038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018038	- Marfan syndrome (MFS) [MIM:154700]	SWISS	42	pfam07645	NULL
2200	311033452	Disease	p.Tyr2474Cys	VAR_018038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018038	- Marfan syndrome (MFS) [MIM:154700]	SWISS	62	smart00179	NULL
2200	311033452	Disease	p.Tyr2474Cys	VAR_018038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018038	- Marfan syndrome (MFS) [MIM:154700]	SWISS	69	cd00054	NULL
2200	311033452	Disease	p.Tyr2474Cys	VAR_018038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018038	- Marfan syndrome (MFS) [MIM:154700]	SWISS	65	cd00053	NULL
2200	311033452	Disease	p.Tyr2474Cys	VAR_018038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018038	- Marfan syndrome (MFS) [MIM:154700]	SWISS	66	smart00181	NULL
2200	311033452	Disease	p.Cys2489Arg	VAR_002343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002343	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	pfam07645	NULL
2200	311033452	Disease	p.Cys2489Arg	VAR_002343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002343	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	smart00179	NULL
2200	311033452	Disease	p.Cys2489Arg	VAR_002343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002343	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	cd00054	NULL
2200	311033452	Disease	p.Cys2489Arg	VAR_002343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002343	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	smart00181	NULL
2200	311033452	Disease	p.Cys2489Arg	VAR_002343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002343	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	cd00053	NULL
2200	311033452	Disease	p.Cys2500Arg	VAR_023904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023904	- Marfan syndrome (MFS) [MIM:154700]	SWISS	18	pfam00008	NULL
2200	311033452	Disease	p.Cys2500Arg	VAR_023904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023904	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Cys2500Arg	VAR_023904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023904	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys2500Arg	VAR_023904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023904	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Cys2500Arg	VAR_023904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023904	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Cys2500Arg	VAR_023904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023904	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys2500Tyr	VAR_023905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023905	- Marfan syndrome (MFS) [MIM:154700]	SWISS	18	pfam00008	NULL
2200	311033452	Disease	p.Cys2500Tyr	VAR_023905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023905	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Cys2500Tyr	VAR_023905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023905	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys2500Tyr	VAR_023905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023905	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Cys2500Tyr	VAR_023905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023905	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Cys2500Tyr	VAR_023905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023905	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys2511Arg	VAR_002344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002344	- Marfan syndrome (MFS) [MIM:154700]	SWISS	37	pfam00008	NULL
2200	311033452	Disease	p.Cys2511Arg	VAR_002344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002344	- Marfan syndrome (MFS) [MIM:154700]	SWISS	38	pfam07645	NULL
2200	311033452	Disease	p.Cys2511Arg	VAR_002344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002344	- Marfan syndrome (MFS) [MIM:154700]	SWISS	55	smart00179	NULL
2200	311033452	Disease	p.Cys2511Arg	VAR_002344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002344	- Marfan syndrome (MFS) [MIM:154700]	SWISS	60	cd00054	NULL
2200	311033452	Disease	p.Cys2511Arg	VAR_002344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002344	- Marfan syndrome (MFS) [MIM:154700]	SWISS	57	smart00181	NULL
2200	311033452	Disease	p.Cys2511Arg	VAR_002344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002344	- Marfan syndrome (MFS) [MIM:154700]	SWISS	58	cd00053	NULL
2200	311033452	Disease	p.Cys2535Trp	VAR_023906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023906	- Marfan syndrome (MFS) [MIM:154700]	SWISS	10	pfam00008	NULL
2200	311033452	Disease	p.Cys2535Trp	VAR_023906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023906	- Marfan syndrome (MFS) [MIM:154700]	SWISS	19	cd00053	NULL
2200	311033452	Disease	p.Cys2535Trp	VAR_023906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023906	- Marfan syndrome (MFS) [MIM:154700]	SWISS	17	smart00181	NULL
2200	311033452	Disease	p.Cys2535Trp	VAR_023906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023906	- Marfan syndrome (MFS) [MIM:154700]	SWISS	14	pfam07645	NULL
2200	311033452	Disease	p.Cys2535Trp	VAR_023906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023906	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	cd00054	NULL
2200	311033452	Disease	p.Cys2535Trp	VAR_023906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023906	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	smart00179	NULL
2200	311033452	Disease	p.Gly2536Arg	VAR_023907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023907	- Marfan syndrome (MFS) [MIM:154700]	SWISS	11	pfam00008	NULL
2200	311033452	Disease	p.Gly2536Arg	VAR_023907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023907	- Marfan syndrome (MFS) [MIM:154700]	SWISS	20	cd00053	NULL
2200	311033452	Disease	p.Gly2536Arg	VAR_023907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023907	- Marfan syndrome (MFS) [MIM:154700]	SWISS	18	smart00181	NULL
2200	311033452	Disease	p.Gly2536Arg	VAR_023907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023907	- Marfan syndrome (MFS) [MIM:154700]	SWISS	15	pfam07645	NULL
2200	311033452	Disease	p.Gly2536Arg	VAR_023907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023907	- Marfan syndrome (MFS) [MIM:154700]	SWISS	26	cd00054	NULL
2200	311033452	Disease	p.Gly2536Arg	VAR_023907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023907	- Marfan syndrome (MFS) [MIM:154700]	SWISS	26	smart00179	NULL
2200	311033452	Disease	p.Glu2570Lys	VAR_023908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023908	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	pfam07645	NULL
2200	311033452	Disease	p.Glu2570Lys	VAR_023908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023908	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	smart00179	NULL
2200	311033452	Disease	p.Glu2570Lys	VAR_023908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023908	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	cd00054	NULL
2200	311033452	Disease	p.Cys2571Arg	VAR_023909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023909	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	smart00181	NULL
2200	311033452	Disease	p.Cys2571Arg	VAR_023909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023909	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	cd00053	NULL
2200	311033452	Disease	p.Cys2571Arg	VAR_023909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023909	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	pfam07645	NULL
2200	311033452	Disease	p.Cys2571Arg	VAR_023909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023909	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	smart00179	NULL
2200	311033452	Disease	p.Cys2571Arg	VAR_023909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023909	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	cd00054	NULL
2200	311033452	Disease	p.Cys2581Phe	VAR_018039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018039	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Cys2581Phe	VAR_018039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018039	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys2581Phe	VAR_018039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018039	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Cys2581Phe	VAR_018039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018039	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys2581Phe	VAR_018039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018039	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Ile2585Thr	VAR_018040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018040	- Marfan syndrome (MFS) [MIM:154700]	SWISS	45	smart00181	NULL
2200	311033452	Disease	p.Ile2585Thr	VAR_018040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018040	- Marfan syndrome (MFS) [MIM:154700]	SWISS	32	cd00053	NULL
2200	311033452	Disease	p.Ile2585Thr	VAR_018040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018040	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	pfam07645	NULL
2200	311033452	Disease	p.Ile2585Thr	VAR_018040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018040	- Marfan syndrome (MFS) [MIM:154700]	SWISS	43	smart00179	NULL
2200	311033452	Disease	p.Ile2585Thr	VAR_018040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018040	- Marfan syndrome (MFS) [MIM:154700]	SWISS	40	cd00054	NULL
2200	311033452	Disease	p.Cys2592Ser	VAR_023910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023910	- Marfan syndrome (MFS) [MIM:154700]	SWISS	57	smart00181	NULL
2200	311033452	Disease	p.Cys2592Ser	VAR_023910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023910	- Marfan syndrome (MFS) [MIM:154700]	SWISS	58	cd00053	NULL
2200	311033452	Disease	p.Cys2592Ser	VAR_023910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023910	- Marfan syndrome (MFS) [MIM:154700]	SWISS	38	pfam07645	NULL
2200	311033452	Disease	p.Cys2592Ser	VAR_023910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023910	- Marfan syndrome (MFS) [MIM:154700]	SWISS	55	smart00179	NULL
2200	311033452	Disease	p.Cys2592Ser	VAR_023910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023910	- Marfan syndrome (MFS) [MIM:154700]	SWISS	60	cd00054	NULL
2200	311033452	Disease	p.Cys2605Arg	VAR_023911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023911	- Marfan syndrome (MFS) [MIM:154700]	SWISS	82	smart00181	NULL
2200	311033452	Disease	p.Cys2605Arg	VAR_023911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023911	- Marfan syndrome (MFS) [MIM:154700]	SWISS	85	cd00053	NULL
2200	311033452	Disease	p.Cys2605Arg	VAR_023911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023911	- Marfan syndrome (MFS) [MIM:154700]	SWISS	83	smart00179	NULL
2200	311033452	Disease	p.Cys2605Arg	VAR_023911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023911	- Marfan syndrome (MFS) [MIM:154700]	SWISS	89	cd00054	NULL
2200	311033452	Disease	p.Cys2605Tyr	VAR_023912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023912	- Marfan syndrome (MFS) [MIM:154700]	SWISS	82	smart00181	NULL
2200	311033452	Disease	p.Cys2605Tyr	VAR_023912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023912	- Marfan syndrome (MFS) [MIM:154700]	SWISS	85	cd00053	NULL
2200	311033452	Disease	p.Cys2605Tyr	VAR_023912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023912	- Marfan syndrome (MFS) [MIM:154700]	SWISS	83	smart00179	NULL
2200	311033452	Disease	p.Cys2605Tyr	VAR_023912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023912	- Marfan syndrome (MFS) [MIM:154700]	SWISS	89	cd00054	NULL
2200	311033452	Disease	p.Glu2610Lys	VAR_023913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023913	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	pfam07645	NULL
2200	311033452	Disease	p.Glu2610Lys	VAR_023913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023913	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	cd00054	NULL
2200	311033452	Disease	p.Glu2610Lys	VAR_023913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023913	- Marfan syndrome (MFS) [MIM:154700]	SWISS	4	smart00179	NULL
2200	311033452	Disease	p.Gly2618Arg	VAR_018041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018041	- Marfan syndrome (MFS) [MIM:154700]	SWISS	18	smart00181	NULL
2200	311033452	Disease	p.Gly2618Arg	VAR_018041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018041	- Marfan syndrome (MFS) [MIM:154700]	SWISS	20	cd00053	NULL
2200	311033452	Disease	p.Gly2618Arg	VAR_018041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018041	- Marfan syndrome (MFS) [MIM:154700]	SWISS	15	pfam07645	NULL
2200	311033452	Disease	p.Gly2618Arg	VAR_018041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018041	- Marfan syndrome (MFS) [MIM:154700]	SWISS	26	cd00054	NULL
2200	311033452	Disease	p.Gly2618Arg	VAR_018041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018041	- Marfan syndrome (MFS) [MIM:154700]	SWISS	26	smart00179	NULL
2200	311033452	Disease	p.His2623Pro	VAR_002345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002345	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	smart00181	NULL
2200	311033452	Disease	p.His2623Pro	VAR_002345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002345	- Marfan syndrome (MFS) [MIM:154700]	SWISS	29	cd00053	NULL
2200	311033452	Disease	p.His2623Pro	VAR_002345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002345	- Marfan syndrome (MFS) [MIM:154700]	SWISS	24	pfam07645	NULL
2200	311033452	Disease	p.His2623Pro	VAR_002345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002345	- Marfan syndrome (MFS) [MIM:154700]	SWISS	37	cd00054	NULL
2200	311033452	Disease	p.His2623Pro	VAR_002345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002345	- Marfan syndrome (MFS) [MIM:154700]	SWISS	35	smart00179	NULL
2200	311033452	Disease	p.Asn2624Lys	VAR_018042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018042	- Marfan syndrome (MFS) [MIM:154700]	SWISS	29	smart00181	NULL
2200	311033452	Disease	p.Asn2624Lys	VAR_018042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018042	- Marfan syndrome (MFS) [MIM:154700]	SWISS	30	cd00053	NULL
2200	311033452	Disease	p.Asn2624Lys	VAR_018042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018042	- Marfan syndrome (MFS) [MIM:154700]	SWISS	25	pfam07645	NULL
2200	311033452	Disease	p.Asn2624Lys	VAR_018042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018042	- Marfan syndrome (MFS) [MIM:154700]	SWISS	38	cd00054	NULL
2200	311033452	Disease	p.Asn2624Lys	VAR_018042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018042	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	smart00179	NULL
2200	311033452	Disease	p.Gly2627Arg	VAR_002346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002346	- Marfan syndrome (MFS) [MIM:154700]	SWISS	46	smart00181	NULL
2200	311033452	Disease	p.Gly2627Arg	VAR_002346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002346	- Marfan syndrome (MFS) [MIM:154700]	SWISS	47	cd00053	NULL
2200	311033452	Disease	p.Gly2627Arg	VAR_002346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002346	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	pfam07645	NULL
2200	311033452	Disease	p.Gly2627Arg	VAR_002346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002346	- Marfan syndrome (MFS) [MIM:154700]	SWISS	49	cd00054	NULL
2200	311033452	Disease	p.Gly2627Arg	VAR_002346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002346	- Marfan syndrome (MFS) [MIM:154700]	SWISS	44	smart00179	NULL
2200	311033452	Disease	p.Tyr2629Cys	VAR_023914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023914	- Marfan syndrome (MFS) [MIM:154700]	SWISS	48	smart00181	NULL
2200	311033452	Disease	p.Tyr2629Cys	VAR_023914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023914	- Marfan syndrome (MFS) [MIM:154700]	SWISS	49	cd00053	NULL
2200	311033452	Disease	p.Tyr2629Cys	VAR_023914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023914	- Marfan syndrome (MFS) [MIM:154700]	SWISS	30	pfam07645	NULL
2200	311033452	Disease	p.Tyr2629Cys	VAR_023914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023914	- Marfan syndrome (MFS) [MIM:154700]	SWISS	51	cd00054	NULL
2200	311033452	Disease	p.Tyr2629Cys	VAR_023914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023914	- Marfan syndrome (MFS) [MIM:154700]	SWISS	46	smart00179	NULL
2200	311033452	Disease	p.Cys2652Gly	VAR_018043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018043	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	cd00053	NULL
2200	311033452	Disease	p.Cys2652Gly	VAR_018043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018043	- Marfan syndrome (MFS) [MIM:154700]	SWISS	2	smart00181	NULL
2200	311033452	Disease	p.Cys2652Gly	VAR_018043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018043	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	pfam07645	NULL
2200	311033452	Disease	p.Cys2652Gly	VAR_018043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018043	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	smart00179	NULL
2200	311033452	Disease	p.Cys2652Gly	VAR_018043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018043	- Marfan syndrome (MFS) [MIM:154700]	SWISS	5	cd00054	NULL
2200	311033452	Disease	p.Cys2663Ser	VAR_023915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023915	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	cd00053	NULL
2200	311033452	Disease	p.Cys2663Ser	VAR_023915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023915	- Marfan syndrome (MFS) [MIM:154700]	SWISS	27	smart00181	NULL
2200	311033452	Disease	p.Cys2663Ser	VAR_023915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023915	- Marfan syndrome (MFS) [MIM:154700]	SWISS	23	pfam07645	NULL
2200	311033452	Disease	p.Cys2663Ser	VAR_023915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023915	- Marfan syndrome (MFS) [MIM:154700]	SWISS	34	smart00179	NULL
2200	311033452	Disease	p.Cys2663Ser	VAR_023915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023915	- Marfan syndrome (MFS) [MIM:154700]	SWISS	36	cd00054	NULL
2200	311033452	Disease	p.Gly2668Cys	VAR_018044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018044	- Marfan syndrome (MFS) [MIM:154700]	SWISS	47	cd00053	NULL
2200	311033452	Disease	p.Gly2668Cys	VAR_018044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018044	- Marfan syndrome (MFS) [MIM:154700]	SWISS	46	smart00181	NULL
2200	311033452	Disease	p.Gly2668Cys	VAR_018044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018044	- Marfan syndrome (MFS) [MIM:154700]	SWISS	28	pfam07645	NULL
2200	311033452	Disease	p.Gly2668Cys	VAR_018044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018044	- Marfan syndrome (MFS) [MIM:154700]	SWISS	44	smart00179	NULL
2200	311033452	Disease	p.Gly2668Cys	VAR_018044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018044	- Marfan syndrome (MFS) [MIM:154700]	SWISS	49	cd00054	NULL
2200	311033452	Disease	p.Arg2680Cys	VAR_002347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002347	- Marfan syndrome (MFS) [MIM:154700]	SWISS	67	cd00053	NULL
2200	311033452	Disease	p.Arg2680Cys	VAR_002347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002347	- Marfan syndrome (MFS) [MIM:154700]	SWISS	68	smart00181	NULL
2200	311033452	Disease	p.Arg2680Cys	VAR_002347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002347	- Marfan syndrome (MFS) [MIM:154700]	SWISS	44	pfam07645	NULL
2200	311033452	Disease	p.Arg2680Cys	VAR_002347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002347	- Marfan syndrome (MFS) [MIM:154700]	SWISS	65	smart00179	NULL
2200	311033452	Disease	p.Arg2680Cys	VAR_002347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002347	- Marfan syndrome (MFS) [MIM:154700]	SWISS	71	cd00054	NULL
2200	311033452	Disease	p.Arg2726Trp	VAR_002348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002348	- Marfan syndrome (MFS) [MIM:154700]	SWISS	No Domain	N/A	NULL
2201	238054385	Disease	p.Glu391Lys	VAR_015851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015851	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	22	pfam00683	66346695,NP_001990
2201	238054385	Disease	p.Gly754Ser	VAR_058364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058364	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	52	pfam00683	66346695,NP_001990
2201	238054385	Disease	p.Gly1057Asp	VAR_054981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054981	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	No Domain	N/A	66346695,NP_001990
2201	238054385	Disease	p.Asn1091Ser	VAR_058365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058365	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	30	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Asn1091Ser	VAR_058365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058365	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	29	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Asn1091Ser	VAR_058365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058365	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	36	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Asn1091Ser	VAR_058365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058365	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	38	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Asn1091Ser	VAR_058365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058365	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	25	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Ile1093Thr	VAR_054982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054982	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	32	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Ile1093Thr	VAR_054982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054982	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	45	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Ile1093Thr	VAR_054982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054982	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	43	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Ile1093Thr	VAR_054982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054982	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	40	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Ile1093Thr	VAR_054982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054982	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	27	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Asp1115His	VAR_010739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010739	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	No Domain	N/A	66346695,NP_001990
2201	238054385	Disease	p.Ser1122Pro	VAR_058366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058366	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	8	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Ser1122Pro	VAR_058366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058366	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	8	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Ser1122Pro	VAR_058366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058366	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	9	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Ser1122Pro	VAR_058366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058366	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	5	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Ser1122Pro	VAR_058366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058366	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	15	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Cys1142Phe	VAR_010740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010740	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	55	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Cys1142Phe	VAR_010740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010740	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	60	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Cys1142Phe	VAR_010740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010740	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	38	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Cys1142Phe	VAR_010740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010740	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	57	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Cys1142Phe	VAR_010740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010740	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	58	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Cys1142Arg	VAR_058367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058367	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	55	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Cys1142Arg	VAR_058367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058367	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	60	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Cys1142Arg	VAR_058367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058367	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	38	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Cys1142Arg	VAR_058367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058367	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	57	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Cys1142Arg	VAR_058367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058367	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	58	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Tyr1146Cys	VAR_058368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058368	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	62	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Tyr1146Cys	VAR_058368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058368	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	69	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Tyr1146Cys	VAR_058368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058368	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	42	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Tyr1146Cys	VAR_058368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058368	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	66	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Tyr1146Cys	VAR_058368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058368	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	65	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Cys1156Phe	VAR_058369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058369	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	83	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Cys1156Phe	VAR_058369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058369	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	89	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Cys1156Phe	VAR_058369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058369	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	82	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Cys1156Phe	VAR_058369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058369	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	85	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Glu1161Lys	VAR_058370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058370	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	4	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Glu1161Lys	VAR_058370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058370	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	4	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Glu1161Lys	VAR_058370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058370	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	4	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Gly1179Cys	VAR_054983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054983	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	46	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Gly1179Cys	VAR_054983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054983	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	47	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Gly1179Cys	VAR_054983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054983	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	28	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Gly1179Cys	VAR_054983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054983	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	44	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Gly1179Cys	VAR_054983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054983	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	49	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Cys1198Tyr	VAR_054984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054984	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	82	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Cys1198Tyr	VAR_054984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054984	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	85	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Cys1198Tyr	VAR_054984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054984	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	83	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Cys1198Tyr	VAR_054984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054984	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	89	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Cys1240Arg	VAR_054985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054985	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	83	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Cys1240Arg	VAR_054985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054985	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	89	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Cys1240Arg	VAR_054985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054985	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	85	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Cys1240Arg	VAR_054985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054985	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	82	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Cys1246Phe	VAR_058371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058371	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	5	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Cys1246Phe	VAR_058371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058371	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	5	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Cys1246Phe	VAR_058371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058371	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	5	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Cys1246Phe	VAR_058371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058371	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	2	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Cys1246Phe	VAR_058371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058371	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	2	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Cys1253Trp	VAR_010741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010741	rs28931602 Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	25	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Cys1253Trp	VAR_010741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010741	rs28931602 Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	25	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Cys1253Trp	VAR_010741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010741	rs28931602 Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	14	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Cys1253Trp	VAR_010741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010741	rs28931602 Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	17	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Cys1253Trp	VAR_010741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010741	rs28931602 Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	19	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Cys1253Tyr	VAR_002350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002350	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	25	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Cys1253Tyr	VAR_002350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002350	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	25	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Cys1253Tyr	VAR_002350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002350	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	14	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Cys1253Tyr	VAR_002350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002350	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	17	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Cys1253Tyr	VAR_002350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002350	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	19	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Cys1257Trp	VAR_054986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054986	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	36	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Cys1257Trp	VAR_054986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054986	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	34	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Cys1257Trp	VAR_054986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054986	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	23	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Cys1257Trp	VAR_054986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054986	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	27	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Cys1257Trp	VAR_054986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054986	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	28	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Cys1268Arg	VAR_054987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054987	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	60	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Cys1268Arg	VAR_054987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054987	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	55	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Cys1268Arg	VAR_054987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054987	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	38	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Cys1268Arg	VAR_054987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054987	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	57	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Cys1268Arg	VAR_054987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054987	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	58	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Cys1384Phe	VAR_058372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058372	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	27	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Cys1384Phe	VAR_058372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058372	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	28	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Cys1384Phe	VAR_058372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058372	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	18	pfam00008	66346695,NP_001990
2201	238054385	Disease	p.Cys1384Phe	VAR_058372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058372	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	23	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Cys1384Phe	VAR_058372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058372	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	36	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Cys1384Phe	VAR_058372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058372	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	34	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Cys1384Tyr	VAR_058373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058373	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	27	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Cys1384Tyr	VAR_058373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058373	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	28	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Cys1384Tyr	VAR_058373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058373	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	18	pfam00008	66346695,NP_001990
2201	238054385	Disease	p.Cys1384Tyr	VAR_058373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058373	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	23	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Cys1384Tyr	VAR_058373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058373	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	36	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Cys1384Tyr	VAR_058373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058373	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	34	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Asp1408Asn	VAR_058374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058374	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	No Domain	N/A	66346695,NP_001990
2201	238054385	Disease	p.Cys1425Arg	VAR_058375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058375	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	23	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Cys1425Arg	VAR_058375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058375	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	36	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Cys1425Arg	VAR_058375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058375	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	34	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Cys1425Arg	VAR_058375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058375	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	18	pfam00008	66346695,NP_001990
2201	238054385	Disease	p.Cys1425Arg	VAR_058375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058375	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	28	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Cys1425Arg	VAR_058375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058375	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	27	smart00181	66346695,NP_001990
2201	238054385	Disease	p.Cys1434Ser	VAR_002351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002351	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	32	pfam07645	66346695,NP_001990
2201	238054385	Disease	p.Cys1434Ser	VAR_002351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002351	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	53	cd00054	66346695,NP_001990
2201	238054385	Disease	p.Cys1434Ser	VAR_002351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002351	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	48	smart00179	66346695,NP_001990
2201	238054385	Disease	p.Cys1434Ser	VAR_002351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002351	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	35	pfam00008	66346695,NP_001990
2201	238054385	Disease	p.Cys1434Ser	VAR_002351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002351	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	51	cd00053	66346695,NP_001990
2201	238054385	Disease	p.Cys1434Ser	VAR_002351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002351	- Congenital contractural arachnodactyly (CCA) [MIM:121050]	SWISS	50	smart00181	66346695,NP_001990
2203	311033495	Disease	p.Gly164Ser	VAR_002380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002380	- Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	SWISS	217	cd01637	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Gly164Ser	VAR_002380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002380	- Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	SWISS	209	cd01636	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Gly164Ser	VAR_002380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002380	- Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	SWISS	177	COG0158	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Gly164Ser	VAR_002380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002380	- Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	SWISS	201	cd00354	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Gly164Ser	VAR_002380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002380	- Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	SWISS	171	pfam00316	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Ala177Asp	VAR_002381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002381	- Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	SWISS	245	cd01637	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Ala177Asp	VAR_002381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002381	- Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	SWISS	229	cd01636	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Ala177Asp	VAR_002381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002381	- Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	SWISS	190	COG0158	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Ala177Asp	VAR_002381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002381	- Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	SWISS	214	cd00354	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Ala177Asp	VAR_002381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002381	- Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	SWISS	184	pfam00316	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Phe194Ser	VAR_038812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038812	- Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	SWISS	265	cd01637	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Phe194Ser	VAR_038812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038812	- Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	SWISS	246	cd01636	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Phe194Ser	VAR_038812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038812	- Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	SWISS	207	COG0158	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Phe194Ser	VAR_038812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038812	- Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	SWISS	243	cd00354	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Phe194Ser	VAR_038812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038812	- Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	SWISS	203	pfam00316	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Pro284Arg	VAR_038813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038813	- Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	SWISS	365	cd01637	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Pro284Arg	VAR_038813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038813	- Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	SWISS	339	cd01636	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Pro284Arg	VAR_038813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038813	- Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	SWISS	302	COG0158	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Pro284Arg	VAR_038813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038813	- Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	SWISS	361	cd00354	16579888,NP_000498|189083692,NP_001121100
2203	311033495	Disease	p.Pro284Arg	VAR_038813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038813	- Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]	SWISS	298	pfam00316	16579888,NP_000498|189083692,NP_001121100
25793	13124249	Disease	p.Arg378Gly	VAR_047938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047938	- Parkinson disease type 15 (PARK15) [MIM:260300]	SWISS	No Domain	N/A	74229027,NP_036311
2235	85701348	Disease	p.Gly55Cys	VAR_002383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002383	rs3848519 Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	No Domain	N/A	60499021,NP_000131
2235	85701348	Disease	p.Pro62Arg	VAR_030553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030553	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	No Domain	N/A	60499021,NP_000131
2235	85701348	Disease	p.Ile71Lys	VAR_030554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030554	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	3	cd03411	60499021,NP_000131
2235	85701348	Disease	p.Ile71Lys	VAR_030554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030554	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	2	cd03409	60499021,NP_000131
2235	85701348	Disease	p.Ile71Lys	VAR_030554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030554	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	8	COG0276	60499021,NP_000131
2235	85701348	Disease	p.Ile71Lys	VAR_030554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030554	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	4	pfam00762	60499021,NP_000131
2235	85701348	Disease	p.Gln139Leu	VAR_030555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030555	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	96	cd03411	60499021,NP_000131
2235	85701348	Disease	p.Gln139Leu	VAR_030555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030555	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	70	cd03409	60499021,NP_000131
2235	85701348	Disease	p.Gln139Leu	VAR_030555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030555	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	88	COG0276	60499021,NP_000131
2235	85701348	Disease	p.Gln139Leu	VAR_030555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030555	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	113	pfam00762	60499021,NP_000131
2235	85701348	Disease	p.Ser151Pro	VAR_030556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030556	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	108	cd03411	60499021,NP_000131
2235	85701348	Disease	p.Ser151Pro	VAR_030556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030556	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	82	cd03409	60499021,NP_000131
2235	85701348	Disease	p.Ser151Pro	VAR_030556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030556	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	100	COG0276	60499021,NP_000131
2235	85701348	Disease	p.Ser151Pro	VAR_030556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030556	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	126	pfam00762	60499021,NP_000131
2235	85701348	Disease	p.Glu178Lys	VAR_030557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030557	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	150	cd03411	60499021,NP_000131
2235	85701348	Disease	p.Glu178Lys	VAR_030557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030557	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	122	cd03409	60499021,NP_000131
2235	85701348	Disease	p.Glu178Lys	VAR_030557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030557	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	128	COG0276	60499021,NP_000131
2235	85701348	Disease	p.Glu178Lys	VAR_030557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030557	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	188	pfam00762	60499021,NP_000131
2235	85701348	Disease	p.Leu182Arg	VAR_030558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030558	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	166	cd03411	60499021,NP_000131
2235	85701348	Disease	p.Leu182Arg	VAR_030558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030558	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	127	cd03409	60499021,NP_000131
2235	85701348	Disease	p.Leu182Arg	VAR_030558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030558	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	132	COG0276	60499021,NP_000131
2235	85701348	Disease	p.Leu182Arg	VAR_030558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030558	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	195	pfam00762	60499021,NP_000131
2235	85701348	Disease	p.Ile186Thr	VAR_002384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002384	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	170	cd03411	60499021,NP_000131
2235	85701348	Disease	p.Ile186Thr	VAR_002384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002384	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	131	cd03409	60499021,NP_000131
2235	85701348	Disease	p.Ile186Thr	VAR_002384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002384	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	136	COG0276	60499021,NP_000131
2235	85701348	Disease	p.Ile186Thr	VAR_002384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002384	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	204	pfam00762	60499021,NP_000131
2235	85701348	Disease	p.Tyr191His	VAR_030559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030559	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	175	cd03411	60499021,NP_000131
2235	85701348	Disease	p.Tyr191His	VAR_030559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030559	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	136	cd03409	60499021,NP_000131
2235	85701348	Disease	p.Tyr191His	VAR_030559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030559	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	141	COG0276	60499021,NP_000131
2235	85701348	Disease	p.Tyr191His	VAR_030559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030559	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	209	pfam00762	60499021,NP_000131
2235	85701348	Disease	p.Pro192Thr	VAR_030560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030560	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	176	cd03411	60499021,NP_000131
2235	85701348	Disease	p.Pro192Thr	VAR_030560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030560	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	137	cd03409	60499021,NP_000131
2235	85701348	Disease	p.Pro192Thr	VAR_030560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030560	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	142	COG0276	60499021,NP_000131
2235	85701348	Disease	p.Pro192Thr	VAR_030560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030560	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	210	pfam00762	60499021,NP_000131
2235	85701348	Disease	p.Cys236Tyr	VAR_030561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030561	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	189	COG0276	60499021,NP_000131
2235	85701348	Disease	p.Cys236Tyr	VAR_030561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030561	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	297	pfam00762	60499021,NP_000131
2235	85701348	Disease	p.Cys236Tyr	VAR_030561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030561	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	2	cd00419	60499021,NP_000131
2235	85701348	Disease	p.Phe260Leu	VAR_030562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030562	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	215	COG0276	60499021,NP_000131
2235	85701348	Disease	p.Phe260Leu	VAR_030562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030562	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	384	pfam00762	60499021,NP_000131
2235	85701348	Disease	p.Phe260Leu	VAR_030562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030562	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	4	cd03409	60499021,NP_000131
2235	85701348	Disease	p.Phe260Leu	VAR_030562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030562	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	41	cd00419	60499021,NP_000131
2235	85701348	Disease	p.Ser264Leu	VAR_054629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054629	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	219	COG0276	60499021,NP_000131
2235	85701348	Disease	p.Ser264Leu	VAR_054629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054629	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	389	pfam00762	60499021,NP_000131
2235	85701348	Disease	p.Ser264Leu	VAR_054629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054629	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	8	cd03409	60499021,NP_000131
2235	85701348	Disease	p.Ser264Leu	VAR_054629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054629	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	45	cd00419	60499021,NP_000131
2235	85701348	Disease	p.Met267Ile	VAR_002385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002385	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	222	COG0276	60499021,NP_000131
2235	85701348	Disease	p.Met267Ile	VAR_002385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002385	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	392	pfam00762	60499021,NP_000131
2235	85701348	Disease	p.Met267Ile	VAR_002385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002385	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	11	cd03409	60499021,NP_000131
2235	85701348	Disease	p.Met267Ile	VAR_002385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002385	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	49	cd00419	60499021,NP_000131
2235	85701348	Disease	p.Thr283Ile	VAR_030563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030563	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	260	COG0276	60499021,NP_000131
2235	85701348	Disease	p.Thr283Ile	VAR_030563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030563	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	497	pfam00762	60499021,NP_000131
2235	85701348	Disease	p.Thr283Ile	VAR_030563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030563	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	70	cd03409	60499021,NP_000131
2235	85701348	Disease	p.Thr283Ile	VAR_030563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030563	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	88	cd00419	60499021,NP_000131
2235	85701348	Disease	p.Met288Lys	VAR_030564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030564	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	265	COG0276	60499021,NP_000131
2235	85701348	Disease	p.Met288Lys	VAR_030564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030564	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	517	pfam00762	60499021,NP_000131
2235	85701348	Disease	p.Met288Lys	VAR_030564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030564	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	75	cd03409	60499021,NP_000131
2235	85701348	Disease	p.Met288Lys	VAR_030564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030564	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	93	cd00419	60499021,NP_000131
2235	85701348	Disease	p.Pro334Leu	VAR_030565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030565	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	318	COG0276	60499021,NP_000131
2235	85701348	Disease	p.Pro334Leu	VAR_030565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030565	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	655	pfam00762	60499021,NP_000131
2235	85701348	Disease	p.Pro334Leu	VAR_030565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030565	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	134	cd03409	60499021,NP_000131
2235	85701348	Disease	p.Pro334Leu	VAR_030565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030565	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	206	cd00419	60499021,NP_000131
2235	85701348	Disease	p.Val362Gly	VAR_030566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030566	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	345	COG0276	60499021,NP_000131
2235	85701348	Disease	p.Val362Gly	VAR_030566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030566	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	689	pfam00762	60499021,NP_000131
2235	85701348	Disease	p.Val362Gly	VAR_030566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030566	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	175	cd03409	60499021,NP_000131
2235	85701348	Disease	p.Val362Gly	VAR_030566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030566	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	237	cd00419	60499021,NP_000131
2235	85701348	Disease	p.Lys379Asn	VAR_030567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030567	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	362	COG0276	60499021,NP_000131
2235	85701348	Disease	p.Lys379Asn	VAR_030567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030567	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	712	pfam00762	60499021,NP_000131
2235	85701348	Disease	p.His386Pro	VAR_002386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002386	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	369	COG0276	60499021,NP_000131
2235	85701348	Disease	p.His386Pro	VAR_002386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002386	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	722	pfam00762	60499021,NP_000131
2235	85701348	Disease	p.Cys406Ser	VAR_030568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030568	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	No Domain	N/A	60499021,NP_000131
2235	85701348	Disease	p.Cys406Tyr	VAR_030569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030569	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	No Domain	N/A	60499021,NP_000131
2235	85701348	Disease	p.Phe417Ser	VAR_002387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002387	- Erythropoietic protoporphyria (EPP) [MIM:177000]	SWISS	No Domain	N/A	60499021,NP_000131
2243	1706799	Disease	p.Glu545Val	VAR_010731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010731	- Amyloidosis type 8 (AMYL8) [MIM:105200]	SWISS	No Domain	N/A	4503689,NP_000499
2243	1706799	Disease	p.Arg573Leu	VAR_010732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010732	- Amyloidosis type 8 (AMYL8) [MIM:105200]	SWISS	No Domain	N/A	4503689,NP_000499
2244	399492	Disease	p.Arg196Cys	VAR_016908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016908	- Congenital afibrinogenemia [MIM:202400]	SWISS	112	pfam08702	70906435,NP_005132
2244	399492	Disease	p.Leu383Arg	VAR_016909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016909	- Congenital afibrinogenemia [MIM:202400]	SWISS	184	smart00186	70906435,NP_005132
2244	399492	Disease	p.Leu383Arg	VAR_016909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016909	- Congenital afibrinogenemia [MIM:202400]	SWISS	156	pfam00147	70906435,NP_005132
2244	399492	Disease	p.Leu383Arg	VAR_016909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016909	- Congenital afibrinogenemia [MIM:202400]	SWISS	179	cd00087	70906435,NP_005132
2244	399492	Disease	p.Gly430Asp	VAR_016910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016910	- Congenital afibrinogenemia [MIM:202400]	SWISS	260	smart00186	70906435,NP_005132
2244	399492	Disease	p.Gly430Asp	VAR_016910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016910	- Congenital afibrinogenemia [MIM:202400]	SWISS	203	pfam00147	70906435,NP_005132
2244	399492	Disease	p.Gly430Asp	VAR_016910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016910	- Congenital afibrinogenemia [MIM:202400]	SWISS	237	cd00087	70906435,NP_005132
2245	28202247	Disease	p.Ser205Ile	VAR_019268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019268	- Aarskog-Scott syndrome (AAS) [MIM:305400]	SWISS	No Domain	N/A	24797153,NP_004454
2245	28202247	Disease	p.Glu380Ala	VAR_019270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019270	- Aarskog-Scott syndrome (AAS) [MIM:305400]	SWISS	7	cd00160	24797153,NP_004454
2245	28202247	Disease	p.Glu380Ala	VAR_019270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019270	- Aarskog-Scott syndrome (AAS) [MIM:305400]	SWISS	4	smart00325	24797153,NP_004454
2245	28202247	Disease	p.Glu380Ala	VAR_019270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019270	- Aarskog-Scott syndrome (AAS) [MIM:305400]	SWISS	3	pfam00621	24797153,NP_004454
2245	28202247	Disease	p.Arg443His	VAR_019271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019271	- Aarskog-Scott syndrome (AAS) [MIM:305400]	SWISS	78	cd00160	24797153,NP_004454
2245	28202247	Disease	p.Arg443His	VAR_019271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019271	- Aarskog-Scott syndrome (AAS) [MIM:305400]	SWISS	124	smart00325	24797153,NP_004454
2245	28202247	Disease	p.Arg443His	VAR_019271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019271	- Aarskog-Scott syndrome (AAS) [MIM:305400]	SWISS	244	pfam00621	24797153,NP_004454
2245	28202247	Disease	p.Arg522His	VAR_015236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015236	- Aarskog-Scott syndrome (AAS) [MIM:305400]	SWISS	197	cd00160	24797153,NP_004454
2245	28202247	Disease	p.Arg522His	VAR_015236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015236	- Aarskog-Scott syndrome (AAS) [MIM:305400]	SWISS	282	smart00325	24797153,NP_004454
2245	28202247	Disease	p.Arg522His	VAR_015236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015236	- Aarskog-Scott syndrome (AAS) [MIM:305400]	SWISS	522	pfam00621	24797153,NP_004454
2245	28202247	Disease	p.Arg610Gln	VAR_015237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015237	rs28935497 Aarskog-Scott syndrome (AAS) [MIM:305400]	SWISS	217	cd00900	24797153,NP_004454
2245	28202247	Disease	p.Arg610Gln	VAR_015237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015237	rs28935497 Aarskog-Scott syndrome (AAS) [MIM:305400]	SWISS	38	cd00821	24797153,NP_004454
2245	28202247	Disease	p.Arg610Gln	VAR_015237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015237	rs28935497 Aarskog-Scott syndrome (AAS) [MIM:305400]	SWISS	19	cd01220	24797153,NP_004454
2245	28202247	Disease	p.Arg610Gln	VAR_015237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015237	rs28935497 Aarskog-Scott syndrome (AAS) [MIM:305400]	SWISS	21	cd01219	24797153,NP_004454
2245	28202247	Disease	p.Arg610Gln	VAR_015237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015237	rs28935497 Aarskog-Scott syndrome (AAS) [MIM:305400]	SWISS	116	smart00233	24797153,NP_004454
2245	28202247	Disease	p.Arg610Gln	VAR_015237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015237	rs28935497 Aarskog-Scott syndrome (AAS) [MIM:305400]	SWISS	44	pfam00169	24797153,NP_004454
121512	116241363	Disease	p.Met298Thr	VAR_044321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044321	- Charcot-Marie-Tooth disease type 4H (CMT4H) [MIM:609311]	SWISS	200	smart00325	198041928,NP_640334
121512	116241363	Disease	p.Met298Thr	VAR_044321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044321	- Charcot-Marie-Tooth disease type 4H (CMT4H) [MIM:609311]	SWISS	127	cd00160	198041928,NP_640334
121512	116241363	Disease	p.Met298Thr	VAR_044321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044321	- Charcot-Marie-Tooth disease type 4H (CMT4H) [MIM:609311]	SWISS	365	pfam00621	198041928,NP_640334
2255	6015141	Disease	p.Cys106Phe	VAR_029888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029888	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	51	smart00442	4758360,NP_004456
2255	6015141	Disease	p.Cys106Phe	VAR_029888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029888	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	41	cd00058	4758360,NP_004456
2255	6015141	Disease	p.Cys106Phe	VAR_029888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029888	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	48	pfam00167	4758360,NP_004456
2255	6015141	Disease	p.Ile156Arg	VAR_029889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029889	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	109	smart00442	4758360,NP_004456
2255	6015141	Disease	p.Ile156Arg	VAR_029889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029889	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	97	cd00058	4758360,NP_004456
2255	6015141	Disease	p.Ile156Arg	VAR_029889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029889	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	134	pfam00167	4758360,NP_004456
2259	2494463	Disease	p.Phe145Ser	VAR_022736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022736	- Spinocerebellar ataxia type 27 (SCA27) [MIM:609307]	SWISS	105	smart00442	4758368,NP_004106
2259	2494463	Disease	p.Phe145Ser	VAR_022736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022736	- Spinocerebellar ataxia type 27 (SCA27) [MIM:609307]	SWISS	129	pfam00167	4758368,NP_004106
2259	2494463	Disease	p.Phe145Ser	VAR_022736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022736	- Spinocerebellar ataxia type 27 (SCA27) [MIM:609307]	SWISS	93	cd00058	4758368,NP_004106
8074	13626688	Disease	p.Arg176Gln	VAR_010717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010717	- Autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100]	SWISS	No Domain	N/A	10190674,NP_065689
8074	13626688	Disease	p.Arg179Gln	VAR_010719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010719	- Autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100]	SWISS	No Domain	N/A	10190674,NP_065689
8074	13626688	Disease	p.Arg179Trp	VAR_010718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010718	rs28937882 Autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100]	SWISS	No Domain	N/A	10190674,NP_065689
2248	122748	Disease	p.Leu6Pro	VAR_060492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060492	- Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706]	SWISS	No Domain	N/A	4885233,NP_005238
2248	122748	Disease	p.Ser156Pro	VAR_031848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031848	- Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706]	SWISS	150	smart00442	4885233,NP_005238
2248	122748	Disease	p.Ser156Pro	VAR_031848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031848	- Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706]	SWISS	132	cd00058	4885233,NP_005238
2248	122748	Disease	p.Ser156Pro	VAR_031848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031848	- Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706]	SWISS	184	pfam00167	4885233,NP_005238
2253	1706791	Disease	p.His14Asn	VAR_057962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057962	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	No Domain	N/A	15147348,NP_149354
2253	1706791	Disease	p.Pro26Leu	VAR_057963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057963	- Kallmann syndrome type 6 (KAL6) [MIM:612702]	SWISS	No Domain	N/A	15147348,NP_149354
2253	1706791	Disease	p.Phe40Leu	VAR_057964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057964	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	No Domain	N/A	15147348,NP_149354
2253	1706791	Disease	p.Lys89Glu	VAR_057965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057965	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	29	pfam00167	15147348,NP_149354
2253	1706791	Disease	p.Lys89Glu	VAR_057965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057965	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	31	cd00058	15147348,NP_149354
2253	1706791	Disease	p.Lys89Glu	VAR_057965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057965	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	35	smart00442	15147348,NP_149354
2253	1706791	Disease	p.Arg116Gly	VAR_057966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057966	- Kallmann syndrome type 6 (KAL6) [MIM:612702]	SWISS	72	pfam00167	15147348,NP_149354
2253	1706791	Disease	p.Arg116Gly	VAR_057966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057966	- Kallmann syndrome type 6 (KAL6) [MIM:612702]	SWISS	58	cd00058	15147348,NP_149354
2253	1706791	Disease	p.Arg116Gly	VAR_057966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057966	- Kallmann syndrome type 6 (KAL6) [MIM:612702]	SWISS	67	smart00442	15147348,NP_149354
2253	1706791	Disease	p.Thr218Met	VAR_057967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057967	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	No Domain	N/A	15147348,NP_149354
2254	544290	Disease	p.Ser99Asn	VAR_063254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063254	- Multiple synostoses syndrome type 3 (SYNS3) [MIM:612961]	SWISS	60	smart00442	4503707,NP_002001
2254	544290	Disease	p.Ser99Asn	VAR_063254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063254	- Multiple synostoses syndrome type 3 (SYNS3) [MIM:612961]	SWISS	50	cd00058	4503707,NP_002001
2254	544290	Disease	p.Ser99Asn	VAR_063254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063254	- Multiple synostoses syndrome type 3 (SYNS3) [MIM:612961]	SWISS	57	pfam00167	4503707,NP_002001
2260	120046	Disease	p.Gly48Ser	VAR_030968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030968	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	11	smart00409	105990522,NP_075598
2260	120046	Disease	p.Gly48Ser	VAR_030968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030968	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	11	smart00410	105990522,NP_075598
2260	120046	Disease	p.Gly48Ser	VAR_030968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030968	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	9	cd04973	105990522,NP_075598
2260	120046	Disease	p.Gly48Ser	VAR_030968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030968	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	2	smart00408	105990522,NP_075598
2260	120046	Disease	p.Gly48Ser	VAR_030968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030968	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	16	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Arg78Cys	VAR_030970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030970	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	121	smart00409	105990522,NP_075598
2260	120046	Disease	p.Arg78Cys	VAR_030970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030970	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	121	smart00410	105990522,NP_075598
2260	120046	Disease	p.Arg78Cys	VAR_030970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030970	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	39	cd04973	105990522,NP_075598
2260	120046	Disease	p.Arg78Cys	VAR_030970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030970	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	37	pfam00047	105990522,NP_075598
2260	120046	Disease	p.Arg78Cys	VAR_030970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030970	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	86	cd00096	105990522,NP_075598
2260	120046	Disease	p.Arg78Cys	VAR_030970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030970	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	86	smart00408	105990522,NP_075598
2260	120046	Disease	p.Arg78Cys	VAR_030970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030970	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	62	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Gly97Asp	VAR_017885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017885	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	smart00409	105990522,NP_075598
2260	120046	Disease	p.Gly97Asp	VAR_017885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017885	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	smart00410	105990522,NP_075598
2260	120046	Disease	p.Gly97Asp	VAR_017885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017885	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd04973	105990522,NP_075598
2260	120046	Disease	p.Gly97Asp	VAR_017885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017885	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	86	pfam00047	105990522,NP_075598
2260	120046	Disease	p.Gly97Asp	VAR_017885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017885	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	121	cd00096	105990522,NP_075598
2260	120046	Disease	p.Gly97Asp	VAR_017885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017885	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	116	smart00408	105990522,NP_075598
2260	120046	Disease	p.Gly97Asp	VAR_017885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017885	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	91	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Tyr99Cys	VAR_017886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017886	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	smart00409	105990522,NP_075598
2260	120046	Disease	p.Tyr99Cys	VAR_017886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017886	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	smart00410	105990522,NP_075598
2260	120046	Disease	p.Tyr99Cys	VAR_017886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017886	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	60	cd04973	105990522,NP_075598
2260	120046	Disease	p.Tyr99Cys	VAR_017886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017886	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	88	pfam00047	105990522,NP_075598
2260	120046	Disease	p.Tyr99Cys	VAR_017886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017886	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	123	cd00096	105990522,NP_075598
2260	120046	Disease	p.Tyr99Cys	VAR_017886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017886	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	smart00408	105990522,NP_075598
2260	120046	Disease	p.Tyr99Cys	VAR_017886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017886	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	93	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Cys101Phe	VAR_030971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030971	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	smart00409	105990522,NP_075598
2260	120046	Disease	p.Cys101Phe	VAR_030971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030971	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	smart00410	105990522,NP_075598
2260	120046	Disease	p.Cys101Phe	VAR_030971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030971	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	62	cd04973	105990522,NP_075598
2260	120046	Disease	p.Cys101Phe	VAR_030971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030971	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	90	pfam00047	105990522,NP_075598
2260	120046	Disease	p.Cys101Phe	VAR_030971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030971	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd00096	105990522,NP_075598
2260	120046	Disease	p.Cys101Phe	VAR_030971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030971	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	smart00408	105990522,NP_075598
2260	120046	Disease	p.Cys101Phe	VAR_030971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030971	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	95	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Val102Ile	VAR_030972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030972	rs55642501 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	smart00409	105990522,NP_075598
2260	120046	Disease	p.Val102Ile	VAR_030972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030972	rs55642501 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	smart00410	105990522,NP_075598
2260	120046	Disease	p.Val102Ile	VAR_030972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030972	rs55642501 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	63	cd04973	105990522,NP_075598
2260	120046	Disease	p.Val102Ile	VAR_030972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030972	rs55642501 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	91	pfam00047	105990522,NP_075598
2260	120046	Disease	p.Val102Ile	VAR_030972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030972	rs55642501 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd00096	105990522,NP_075598
2260	120046	Disease	p.Val102Ile	VAR_030972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030972	rs55642501 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	121	smart00408	105990522,NP_075598
2260	120046	Disease	p.Val102Ile	VAR_030972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030972	rs55642501 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	96	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Asp129Ala	VAR_030973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030973	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	No Domain	N/A	105990522,NP_075598
2260	120046	Disease	p.Ala167Ser	VAR_017887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017887	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	6	cd05737	105990522,NP_075598
2260	120046	Disease	p.Ala167Ser	VAR_017887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017887	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	8	cd05728	105990522,NP_075598
2260	120046	Disease	p.Ala167Ser	VAR_017887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017887	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	smart00409	105990522,NP_075598
2260	120046	Disease	p.Ala167Ser	VAR_017887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017887	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	smart00410	105990522,NP_075598
2260	120046	Disease	p.Ala167Ser	VAR_017887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017887	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	cd05856	105990522,NP_075598
2260	120046	Disease	p.Ala167Ser	VAR_017887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017887	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	cd05729	105990522,NP_075598
2260	120046	Disease	p.Ala167Ser	VAR_017887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017887	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	cd05857	105990522,NP_075598
2260	120046	Disease	p.Ala167Ser	VAR_017887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017887	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	10	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	9	smart00408	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	9	cd05745	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	23	cd05737	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	21	cd05728	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	18	smart00409	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	18	smart00410	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	16	cd05856	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	16	cd05729	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	16	cd05857	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	2	cd05724	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	cd05736	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	cd00096	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	cd05763	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	cd05876	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	cd05731	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	cd05725	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	23	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	cd05750	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	6	cd05723	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	8	pfam00047	105990522,NP_075598
2260	120046	Disease	p.Cys178Ser	VAR_030974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030974	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	8	cd05765	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	114	smart00408	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	51	cd05745	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	69	cd05737	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	62	cd05728	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	smart00409	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	smart00410	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	59	cd05856	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	62	cd05729	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	62	cd05857	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	70	cd05724	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	50	cd05736	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd00096	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	51	cd05763	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	47	cd05876	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	47	cd05731	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	49	cd05725	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	89	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd05750	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	51	cd05723	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	84	pfam00047	105990522,NP_075598
2260	120046	Disease	p.Asp224His	VAR_030976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030976	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	59	cd05765	105990522,NP_075598
2260	120046	Disease	p.Gly237Asp	VAR_030977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030977	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	64	cd05745	105990522,NP_075598
2260	120046	Disease	p.Gly237Asp	VAR_030977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030977	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	82	cd05737	105990522,NP_075598
2260	120046	Disease	p.Gly237Asp	VAR_030977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030977	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	75	cd05728	105990522,NP_075598
2260	120046	Disease	p.Gly237Asp	VAR_030977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030977	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	smart00409	105990522,NP_075598
2260	120046	Disease	p.Gly237Asp	VAR_030977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030977	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	smart00410	105990522,NP_075598
2260	120046	Disease	p.Gly237Asp	VAR_030977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030977	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	72	cd05856	105990522,NP_075598
2260	120046	Disease	p.Gly237Asp	VAR_030977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030977	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	75	cd05729	105990522,NP_075598
2260	120046	Disease	p.Gly237Asp	VAR_030977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030977	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	75	cd05857	105990522,NP_075598
2260	120046	Disease	p.Gly237Asp	VAR_030977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030977	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	83	cd05724	105990522,NP_075598
2260	120046	Disease	p.Gly237Asp	VAR_030977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030977	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	63	cd05736	105990522,NP_075598
2260	120046	Disease	p.Gly237Asp	VAR_030977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030977	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	165	cd00096	105990522,NP_075598
2260	120046	Disease	p.Gly237Asp	VAR_030977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030977	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	64	cd05763	105990522,NP_075598
2260	120046	Disease	p.Gly237Asp	VAR_030977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030977	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	60	cd05876	105990522,NP_075598
2260	120046	Disease	p.Gly237Asp	VAR_030977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030977	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	60	cd05731	105990522,NP_075598
2260	120046	Disease	p.Gly237Asp	VAR_030977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030977	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	62	cd05725	105990522,NP_075598
2260	120046	Disease	p.Gly237Asp	VAR_030977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030977	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	103	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Gly237Asp	VAR_030977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030977	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	71	cd05750	105990522,NP_075598
2260	120046	Disease	p.Gly237Asp	VAR_030977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030977	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	64	cd05723	105990522,NP_075598
2260	120046	Disease	p.Gly237Asp	VAR_030977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030977	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	72	cd05765	105990522,NP_075598
2260	120046	Disease	p.Leu245Pro	VAR_030979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030979	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	72	cd05745	105990522,NP_075598
2260	120046	Disease	p.Leu245Pro	VAR_030979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030979	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	90	cd05737	105990522,NP_075598
2260	120046	Disease	p.Leu245Pro	VAR_030979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030979	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	83	cd05728	105990522,NP_075598
2260	120046	Disease	p.Leu245Pro	VAR_030979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030979	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	smart00409	105990522,NP_075598
2260	120046	Disease	p.Leu245Pro	VAR_030979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030979	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	smart00410	105990522,NP_075598
2260	120046	Disease	p.Leu245Pro	VAR_030979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030979	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	80	cd05856	105990522,NP_075598
2260	120046	Disease	p.Leu245Pro	VAR_030979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030979	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	83	cd05729	105990522,NP_075598
2260	120046	Disease	p.Leu245Pro	VAR_030979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030979	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	83	cd05857	105990522,NP_075598
2260	120046	Disease	p.Leu245Pro	VAR_030979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030979	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	92	cd05724	105990522,NP_075598
2260	120046	Disease	p.Leu245Pro	VAR_030979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030979	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	71	cd05736	105990522,NP_075598
2260	120046	Disease	p.Leu245Pro	VAR_030979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030979	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	72	cd05763	105990522,NP_075598
2260	120046	Disease	p.Leu245Pro	VAR_030979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030979	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	68	cd05876	105990522,NP_075598
2260	120046	Disease	p.Leu245Pro	VAR_030979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030979	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	68	cd05731	105990522,NP_075598
2260	120046	Disease	p.Leu245Pro	VAR_030979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030979	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	70	cd05725	105990522,NP_075598
2260	120046	Disease	p.Leu245Pro	VAR_030979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030979	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	111	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Leu245Pro	VAR_030979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030979	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	72	cd05723	105990522,NP_075598
2260	120046	Disease	p.Leu245Pro	VAR_030979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030979	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	80	cd05765	105990522,NP_075598
2260	120046	Disease	p.Arg250Trp	VAR_030980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030980	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	75	cd05736	105990522,NP_075598
2260	120046	Disease	p.Pro252Arg	VAR_004111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004111	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	3	cd05732	105990522,NP_075598
2260	120046	Disease	p.Arg254Gln	VAR_030981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030981	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	4_G	cd05732	105990522,NP_075598
2260	120046	Disease	p.Arg254Gln	VAR_030981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030981	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	2	cd05869	105990522,NP_075598
2260	120046	Disease	p.Gly270Asp	VAR_030982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030982	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	7	pfam07686	105990522,NP_075598
2260	120046	Disease	p.Gly270Asp	VAR_030982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030982	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	16	cd04968	105990522,NP_075598
2260	120046	Disease	p.Gly270Asp	VAR_030982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030982	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	16	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Gly270Asp	VAR_030982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030982	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	16	cd05732	105990522,NP_075598
2260	120046	Disease	p.Gly270Asp	VAR_030982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030982	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	11	smart00409	105990522,NP_075598
2260	120046	Disease	p.Gly270Asp	VAR_030982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030982	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	11	smart00410	105990522,NP_075598
2260	120046	Disease	p.Gly270Asp	VAR_030982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030982	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	9	cd05729	105990522,NP_075598
2260	120046	Disease	p.Gly270Asp	VAR_030982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030982	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	2	smart00408	105990522,NP_075598
2260	120046	Disease	p.Gly270Asp	VAR_030982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030982	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	17	cd05869	105990522,NP_075598
2260	120046	Disease	p.Val273Met	VAR_030983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030983	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	10	pfam07686	105990522,NP_075598
2260	120046	Disease	p.Val273Met	VAR_030983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030983	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	19	cd04968	105990522,NP_075598
2260	120046	Disease	p.Val273Met	VAR_030983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030983	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	2	cd05723	105990522,NP_075598
2260	120046	Disease	p.Val273Met	VAR_030983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030983	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	19	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Val273Met	VAR_030983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030983	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	20	cd05732	105990522,NP_075598
2260	120046	Disease	p.Val273Met	VAR_030983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030983	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	14	smart00409	105990522,NP_075598
2260	120046	Disease	p.Val273Met	VAR_030983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030983	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	14	smart00410	105990522,NP_075598
2260	120046	Disease	p.Val273Met	VAR_030983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030983	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	12	cd05729	105990522,NP_075598
2260	120046	Disease	p.Val273Met	VAR_030983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030983	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	smart00408	105990522,NP_075598
2260	120046	Disease	p.Val273Met	VAR_030983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030983	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	20	cd05869	105990522,NP_075598
2260	120046	Disease	p.Val273Met	VAR_030983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030983	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	4	cd05858	105990522,NP_075598
2260	120046	Disease	p.Val273Met	VAR_030983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030983	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	4	cd04974	105990522,NP_075598
2260	120046	Disease	p.Val273Met	VAR_030983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030983	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	4	pfam00047	105990522,NP_075598
2260	120046	Disease	p.Val273Met	VAR_030983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030983	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	4	cd05765	105990522,NP_075598
2260	120046	Disease	p.Val273Met	VAR_030983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030983	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	4	cd04969	105990522,NP_075598
2260	120046	Disease	p.Glu274Gly	VAR_030984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030984	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	11	pfam07686	105990522,NP_075598
2260	120046	Disease	p.Glu274Gly	VAR_030984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030984	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	20	cd04968	105990522,NP_075598
2260	120046	Disease	p.Glu274Gly	VAR_030984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030984	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	3	cd05723	105990522,NP_075598
2260	120046	Disease	p.Glu274Gly	VAR_030984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030984	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	20	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Glu274Gly	VAR_030984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030984	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	21	cd05732	105990522,NP_075598
2260	120046	Disease	p.Glu274Gly	VAR_030984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030984	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	2	cd05736	105990522,NP_075598
2260	120046	Disease	p.Glu274Gly	VAR_030984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030984	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	2	cd05725	105990522,NP_075598
2260	120046	Disease	p.Glu274Gly	VAR_030984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030984	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	2	cd00096	105990522,NP_075598
2260	120046	Disease	p.Glu274Gly	VAR_030984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030984	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	15	smart00409	105990522,NP_075598
2260	120046	Disease	p.Glu274Gly	VAR_030984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030984	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	15	smart00410	105990522,NP_075598
2260	120046	Disease	p.Glu274Gly	VAR_030984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030984	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	13	cd05729	105990522,NP_075598
2260	120046	Disease	p.Glu274Gly	VAR_030984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030984	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	6	smart00408	105990522,NP_075598
2260	120046	Disease	p.Glu274Gly	VAR_030984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030984	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	21	cd05869	105990522,NP_075598
2260	120046	Disease	p.Glu274Gly	VAR_030984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030984	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	cd05858	105990522,NP_075598
2260	120046	Disease	p.Glu274Gly	VAR_030984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030984	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	cd04974	105990522,NP_075598
2260	120046	Disease	p.Glu274Gly	VAR_030984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030984	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	pfam00047	105990522,NP_075598
2260	120046	Disease	p.Glu274Gly	VAR_030984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030984	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	cd05765	105990522,NP_075598
2260	120046	Disease	p.Glu274Gly	VAR_030984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030984	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	cd04969	105990522,NP_075598
2260	120046	Disease	p.Cys277Tyr	VAR_017888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017888	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	14	pfam07686	105990522,NP_075598
2260	120046	Disease	p.Cys277Tyr	VAR_017888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017888	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	23	cd04968	105990522,NP_075598
2260	120046	Disease	p.Cys277Tyr	VAR_017888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017888	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	6	cd05723	105990522,NP_075598
2260	120046	Disease	p.Cys277Tyr	VAR_017888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017888	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	23	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Cys277Tyr	VAR_017888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017888	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	24	cd05732	105990522,NP_075598
2260	120046	Disease	p.Cys277Tyr	VAR_017888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017888	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	cd05736	105990522,NP_075598
2260	120046	Disease	p.Cys277Tyr	VAR_017888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017888	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	cd05725	105990522,NP_075598
2260	120046	Disease	p.Cys277Tyr	VAR_017888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017888	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	5	cd00096	105990522,NP_075598
2260	120046	Disease	p.Cys277Tyr	VAR_017888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017888	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	18	smart00409	105990522,NP_075598
2260	120046	Disease	p.Cys277Tyr	VAR_017888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017888	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	18	smart00410	105990522,NP_075598
2260	120046	Disease	p.Cys277Tyr	VAR_017888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017888	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	16	cd05729	105990522,NP_075598
2260	120046	Disease	p.Cys277Tyr	VAR_017888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017888	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	9	smart00408	105990522,NP_075598
2260	120046	Disease	p.Cys277Tyr	VAR_017888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017888	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	24	cd05869	105990522,NP_075598
2260	120046	Disease	p.Cys277Tyr	VAR_017888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017888	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	8	cd05858	105990522,NP_075598
2260	120046	Disease	p.Cys277Tyr	VAR_017888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017888	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	8	cd04974	105990522,NP_075598
2260	120046	Disease	p.Cys277Tyr	VAR_017888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017888	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	8	pfam00047	105990522,NP_075598
2260	120046	Disease	p.Cys277Tyr	VAR_017888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017888	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	8	cd05765	105990522,NP_075598
2260	120046	Disease	p.Cys277Tyr	VAR_017888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017888	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	8	cd04969	105990522,NP_075598
2260	120046	Disease	p.Pro283Arg	VAR_030985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030985	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	30	pfam07686	105990522,NP_075598
2260	120046	Disease	p.Pro283Arg	VAR_030985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030985	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	29	cd04968	105990522,NP_075598
2260	120046	Disease	p.Pro283Arg	VAR_030985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030985	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	12	cd05723	105990522,NP_075598
2260	120046	Disease	p.Pro283Arg	VAR_030985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030985	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	30	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Pro283Arg	VAR_030985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030985	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	30	cd05732	105990522,NP_075598
2260	120046	Disease	p.Pro283Arg	VAR_030985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030985	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	11	cd05736	105990522,NP_075598
2260	120046	Disease	p.Pro283Arg	VAR_030985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030985	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	11	cd05725	105990522,NP_075598
2260	120046	Disease	p.Pro283Arg	VAR_030985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030985	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	25	cd00096	105990522,NP_075598
2260	120046	Disease	p.Pro283Arg	VAR_030985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030985	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	37	smart00409	105990522,NP_075598
2260	120046	Disease	p.Pro283Arg	VAR_030985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030985	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	37	smart00410	105990522,NP_075598
2260	120046	Disease	p.Pro283Arg	VAR_030985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030985	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	22	cd05729	105990522,NP_075598
2260	120046	Disease	p.Pro283Arg	VAR_030985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030985	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	16	smart00408	105990522,NP_075598
2260	120046	Disease	p.Pro283Arg	VAR_030985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030985	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	30	cd05869	105990522,NP_075598
2260	120046	Disease	p.Pro283Arg	VAR_030985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030985	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	15	cd05858	105990522,NP_075598
2260	120046	Disease	p.Pro283Arg	VAR_030985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030985	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	15	cd04974	105990522,NP_075598
2260	120046	Disease	p.Pro283Arg	VAR_030985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030985	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	19	pfam00047	105990522,NP_075598
2260	120046	Disease	p.Pro283Arg	VAR_030985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030985	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	14	cd05765	105990522,NP_075598
2260	120046	Disease	p.Pro283Arg	VAR_030985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030985	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	14	cd04969	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	VAR_030986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030986	- Non-syndromic trigonocephaly [MIM:190440]	SWISS	47	pfam07686	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	VAR_030986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030986	- Non-syndromic trigonocephaly [MIM:190440]	SWISS	43	cd04968	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	VAR_030986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030986	- Non-syndromic trigonocephaly [MIM:190440]	SWISS	25	cd05723	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	VAR_030986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030986	- Non-syndromic trigonocephaly [MIM:190440]	SWISS	45	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	VAR_030986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030986	- Non-syndromic trigonocephaly [MIM:190440]	SWISS	45	cd05732	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	VAR_030986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030986	- Non-syndromic trigonocephaly [MIM:190440]	SWISS	24	cd05736	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	VAR_030986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030986	- Non-syndromic trigonocephaly [MIM:190440]	SWISS	23	cd05725	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	VAR_030986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030986	- Non-syndromic trigonocephaly [MIM:190440]	SWISS	42	cd00096	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	VAR_030986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030986	- Non-syndromic trigonocephaly [MIM:190440]	SWISS	112	smart00409	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	VAR_030986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030986	- Non-syndromic trigonocephaly [MIM:190440]	SWISS	112	smart00410	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	VAR_030986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030986	- Non-syndromic trigonocephaly [MIM:190440]	SWISS	30_G	cd05729	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	VAR_030986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030986	- Non-syndromic trigonocephaly [MIM:190440]	SWISS	53	smart00408	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	VAR_030986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030986	- Non-syndromic trigonocephaly [MIM:190440]	SWISS	46_G	cd05869	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	VAR_030986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030986	- Non-syndromic trigonocephaly [MIM:190440]	SWISS	32	cd05858	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	VAR_030986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030986	- Non-syndromic trigonocephaly [MIM:190440]	SWISS	41	cd04974	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	VAR_030986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030986	- Non-syndromic trigonocephaly [MIM:190440]	SWISS	36	pfam00047	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	VAR_030986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030986	- Non-syndromic trigonocephaly [MIM:190440]	SWISS	31	cd05765	105990522,NP_075598
2260	120046	Disease	p.Ile300Thr	VAR_030986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030986	- Non-syndromic trigonocephaly [MIM:190440]	SWISS	29	cd04969	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	VAR_030987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030987	- Osteoglophonic dysplasia (OGD) [MIM:166250]	SWISS	100	pfam07686	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	VAR_030987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030987	- Osteoglophonic dysplasia (OGD) [MIM:166250]	SWISS	60	cd04968	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	VAR_030987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030987	- Osteoglophonic dysplasia (OGD) [MIM:166250]	SWISS	46	cd05723	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	VAR_030987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030987	- Osteoglophonic dysplasia (OGD) [MIM:166250]	SWISS	84	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	VAR_030987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030987	- Osteoglophonic dysplasia (OGD) [MIM:166250]	SWISS	71	cd05732	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	VAR_030987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030987	- Osteoglophonic dysplasia (OGD) [MIM:166250]	SWISS	45	cd05736	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	VAR_030987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030987	- Osteoglophonic dysplasia (OGD) [MIM:166250]	SWISS	44	cd05725	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	VAR_030987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030987	- Osteoglophonic dysplasia (OGD) [MIM:166250]	SWISS	98	cd00096	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	VAR_030987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030987	- Osteoglophonic dysplasia (OGD) [MIM:166250]	SWISS	181	smart00409	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	VAR_030987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030987	- Osteoglophonic dysplasia (OGD) [MIM:166250]	SWISS	181	smart00410	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	VAR_030987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030987	- Osteoglophonic dysplasia (OGD) [MIM:166250]	SWISS	57	cd05729	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	VAR_030987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030987	- Osteoglophonic dysplasia (OGD) [MIM:166250]	SWISS	108	smart00408	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	VAR_030987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030987	- Osteoglophonic dysplasia (OGD) [MIM:166250]	SWISS	69	cd05869	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	VAR_030987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030987	- Osteoglophonic dysplasia (OGD) [MIM:166250]	SWISS	62	cd05858	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	VAR_030987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030987	- Osteoglophonic dysplasia (OGD) [MIM:166250]	SWISS	71	cd04974	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	VAR_030987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030987	- Osteoglophonic dysplasia (OGD) [MIM:166250]	SWISS	78	pfam00047	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	VAR_030987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030987	- Osteoglophonic dysplasia (OGD) [MIM:166250]	SWISS	54	cd05765	105990522,NP_075598
2260	120046	Disease	p.Asn330Ile	VAR_030987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030987	- Osteoglophonic dysplasia (OGD) [MIM:166250]	SWISS	59	cd04969	105990522,NP_075598
2260	120046	Disease	p.Ser332Cys	VAR_030988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030988	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	103	pfam07686	105990522,NP_075598
2260	120046	Disease	p.Ser332Cys	VAR_030988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030988	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	62	cd04968	105990522,NP_075598
2260	120046	Disease	p.Ser332Cys	VAR_030988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030988	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	48	cd05723	105990522,NP_075598
2260	120046	Disease	p.Ser332Cys	VAR_030988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030988	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	86	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Ser332Cys	VAR_030988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030988	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	73	cd05732	105990522,NP_075598
2260	120046	Disease	p.Ser332Cys	VAR_030988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030988	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	47	cd05736	105990522,NP_075598
2260	120046	Disease	p.Ser332Cys	VAR_030988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030988	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	46	cd05725	105990522,NP_075598
2260	120046	Disease	p.Ser332Cys	VAR_030988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030988	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	100	cd00096	105990522,NP_075598
2260	120046	Disease	p.Ser332Cys	VAR_030988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030988	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	183	smart00409	105990522,NP_075598
2260	120046	Disease	p.Ser332Cys	VAR_030988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030988	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	183	smart00410	105990522,NP_075598
2260	120046	Disease	p.Ser332Cys	VAR_030988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030988	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	59	cd05729	105990522,NP_075598
2260	120046	Disease	p.Ser332Cys	VAR_030988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030988	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	110	smart00408	105990522,NP_075598
2260	120046	Disease	p.Ser332Cys	VAR_030988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030988	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	71	cd05869	105990522,NP_075598
2260	120046	Disease	p.Ser332Cys	VAR_030988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030988	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	64	cd05858	105990522,NP_075598
2260	120046	Disease	p.Ser332Cys	VAR_030988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030988	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	73	cd04974	105990522,NP_075598
2260	120046	Disease	p.Ser332Cys	VAR_030988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030988	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	80	pfam00047	105990522,NP_075598
2260	120046	Disease	p.Ser332Cys	VAR_030988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030988	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd05765	105990522,NP_075598
2260	120046	Disease	p.Ser332Cys	VAR_030988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030988	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	61	cd04969	105990522,NP_075598
2260	120046	Disease	p.Tyr339Cys	VAR_030989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030989	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	110	pfam07686	105990522,NP_075598
2260	120046	Disease	p.Tyr339Cys	VAR_030989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030989	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	69	cd04968	105990522,NP_075598
2260	120046	Disease	p.Tyr339Cys	VAR_030989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030989	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	55	cd05723	105990522,NP_075598
2260	120046	Disease	p.Tyr339Cys	VAR_030989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030989	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	93	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Tyr339Cys	VAR_030989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030989	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	80	cd05732	105990522,NP_075598
2260	120046	Disease	p.Tyr339Cys	VAR_030989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030989	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	54	cd05736	105990522,NP_075598
2260	120046	Disease	p.Tyr339Cys	VAR_030989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030989	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	53	cd05725	105990522,NP_075598
2260	120046	Disease	p.Tyr339Cys	VAR_030989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030989	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	123	cd00096	105990522,NP_075598
2260	120046	Disease	p.Tyr339Cys	VAR_030989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030989	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	smart00409	105990522,NP_075598
2260	120046	Disease	p.Tyr339Cys	VAR_030989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030989	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	smart00410	105990522,NP_075598
2260	120046	Disease	p.Tyr339Cys	VAR_030989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030989	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	66	cd05729	105990522,NP_075598
2260	120046	Disease	p.Tyr339Cys	VAR_030989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030989	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	smart00408	105990522,NP_075598
2260	120046	Disease	p.Tyr339Cys	VAR_030989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030989	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	78	cd05869	105990522,NP_075598
2260	120046	Disease	p.Tyr339Cys	VAR_030989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030989	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	71	cd05858	105990522,NP_075598
2260	120046	Disease	p.Tyr339Cys	VAR_030989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030989	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	88	cd04974	105990522,NP_075598
2260	120046	Disease	p.Tyr339Cys	VAR_030989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030989	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	88	pfam00047	105990522,NP_075598
2260	120046	Disease	p.Tyr339Cys	VAR_030989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030989	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	63	cd05765	105990522,NP_075598
2260	120046	Disease	p.Tyr339Cys	VAR_030989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030989	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	68	cd04969	105990522,NP_075598
2260	120046	Disease	p.Ala343Val	VAR_030990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030990	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	114	pfam07686	105990522,NP_075598
2260	120046	Disease	p.Ala343Val	VAR_030990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030990	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	73	cd04968	105990522,NP_075598
2260	120046	Disease	p.Ala343Val	VAR_030990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030990	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	59	cd05723	105990522,NP_075598
2260	120046	Disease	p.Ala343Val	VAR_030990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030990	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	97	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Ala343Val	VAR_030990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030990	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	84	cd05732	105990522,NP_075598
2260	120046	Disease	p.Ala343Val	VAR_030990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030990	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd05736	105990522,NP_075598
2260	120046	Disease	p.Ala343Val	VAR_030990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030990	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	57	cd05725	105990522,NP_075598
2260	120046	Disease	p.Ala343Val	VAR_030990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030990	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd00096	105990522,NP_075598
2260	120046	Disease	p.Ala343Val	VAR_030990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030990	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	205	smart00409	105990522,NP_075598
2260	120046	Disease	p.Ala343Val	VAR_030990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030990	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	205	smart00410	105990522,NP_075598
2260	120046	Disease	p.Ala343Val	VAR_030990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030990	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	70	cd05729	105990522,NP_075598
2260	120046	Disease	p.Ala343Val	VAR_030990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030990	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	122	smart00408	105990522,NP_075598
2260	120046	Disease	p.Ala343Val	VAR_030990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030990	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	82	cd05869	105990522,NP_075598
2260	120046	Disease	p.Ala343Val	VAR_030990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030990	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	75	cd05858	105990522,NP_075598
2260	120046	Disease	p.Ala343Val	VAR_030990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030990	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	92	cd04974	105990522,NP_075598
2260	120046	Disease	p.Ala343Val	VAR_030990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030990	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	67	cd05765	105990522,NP_075598
2260	120046	Disease	p.Ala343Val	VAR_030990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030990	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	72	cd04969	105990522,NP_075598
2260	120046	Disease	p.Ser346Cys	VAR_030991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030991	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	pfam07686	105990522,NP_075598
2260	120046	Disease	p.Ser346Cys	VAR_030991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030991	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	76	cd04968	105990522,NP_075598
2260	120046	Disease	p.Ser346Cys	VAR_030991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030991	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	62	cd05723	105990522,NP_075598
2260	120046	Disease	p.Ser346Cys	VAR_030991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030991	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	100	pfam07679	105990522,NP_075598
2260	120046	Disease	p.Ser346Cys	VAR_030991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030991	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	87	cd05732	105990522,NP_075598
2260	120046	Disease	p.Ser346Cys	VAR_030991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030991	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	61	cd05736	105990522,NP_075598
2260	120046	Disease	p.Ser346Cys	VAR_030991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030991	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	60	cd05725	105990522,NP_075598
2260	120046	Disease	p.Ser346Cys	VAR_030991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030991	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd00096	105990522,NP_075598
2260	120046	Disease	p.Ser346Cys	VAR_030991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030991	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	224	smart00409	105990522,NP_075598
2260	120046	Disease	p.Ser346Cys	VAR_030991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030991	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	224	smart00410	105990522,NP_075598
2260	120046	Disease	p.Ser346Cys	VAR_030991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030991	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	73	cd05729	105990522,NP_075598
2260	120046	Disease	p.Ser346Cys	VAR_030991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030991	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	smart00408	105990522,NP_075598
2260	120046	Disease	p.Ser346Cys	VAR_030991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030991	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	85	cd05869	105990522,NP_075598
2260	120046	Disease	p.Ser346Cys	VAR_030991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030991	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	78	cd05858	105990522,NP_075598
2260	120046	Disease	p.Ser346Cys	VAR_030991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030991	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	95	cd04974	105990522,NP_075598
2260	120046	Disease	p.Ser346Cys	VAR_030991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030991	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	70	cd05765	105990522,NP_075598
2260	120046	Disease	p.Ser346Cys	VAR_030991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030991	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	75	cd04969	105990522,NP_075598
2260	120046	Disease	p.Tyr374Cys	VAR_030993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030993	- Osteoglophonic dysplasia (OGD) [MIM:166250]	SWISS	No Domain	N/A	105990522,NP_075598
2260	120046	Disease	p.Cys381Arg	VAR_030994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030994	- Osteoglophonic dysplasia (OGD) [MIM:166250]	SWISS	No Domain	N/A	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	51	cd06636	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	68	cd05057	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	49	cd05103	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	49	cd05054	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	49	cd05102	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	44	cd07845	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	62	cd06614	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	48_G	cd07878	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	55_G	cd07851	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	54	cd07850	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	63	cd06639	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	52_G	cd06648	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	79	cd05107	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	94	smart00220	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	38	cd08221	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	36_G	cd05577	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	32_G	cd05608	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	30	cd05579	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	34	cd05115	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	34	cd05123	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	34	cd05047	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	80	cd05572	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	70	cd00180	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	37	cd05585	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	38	cd06917	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	54	cd06634	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	55	cd07877	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	41	cd05089	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	48	cd05061	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	42	cd05073	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	42	cd05070	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	42	cd05067	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	42	cd05068	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	41	cd05082	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	42	cd05034	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	41	cd05083	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	41	cd05039	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	43	cd05148	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	42	cd05072	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	41	cd06637	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	48	cd05036	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	48	cd05062	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	79	cd05032	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	44	cd07858	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	70	cd05056	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	43	cd05052	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	40	cd07849	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	44	cd07864	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	42	cd07870	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	42	cd05071	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	42	cd05069	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	53	cd06638	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd05099	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd05053	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd05100	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd06659	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	60	cd06658	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	53	cd07880	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	59	cd05101	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	44	cd06624	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	57	cd06656	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	57	cd06655	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	55	cd06607	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	57	cd06647	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	38	cd08223	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	47	cd06628	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	52	cd05122	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	37	cd07836	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	40	cd07863	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	37	cd07860	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	37	cd05615	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	50	cd06606	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	38	cd06626	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	40	cd08225	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	42	cd05045	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	54	cd07834	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	38	cd07857	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	36	cd07859	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	40	cd08215	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	40	cd05614	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	43	cd06651	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	46	cd08222	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	38	cd08218	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	43	cd07854	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	38	cd08530	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	38	cd06627	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	39	cd07841	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	34_G	cd07853	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	38	cd06629	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	40	cd05583	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	47	cd05613	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	49	cd08528	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	46	cd06646	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	46	cd06645	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	65	cd06635	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd06657	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	43_G	cd06625	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	37	cd07839	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	43	cd06652	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	44	cd08224	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	43	cd06653	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	61	cd05043	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	42	cd07871	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	42	cd05630	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	44_G	cd05632	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	45	cd05605	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	44_G	cd05081	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	50	cd07865	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	42	cd06643	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	43	cd06611	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	49	cd06644	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	52	cd06618	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	41	cd06631	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	40	cd05584	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	37	cd06630	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	37	cd06632	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	42	cd07844	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	41	cd06640	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	41	cd06641	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	40	cd06613	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	41	cd06642	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	44	cd06608	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd06654	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	79	cd05105	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	45_G	cd07866	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	48	cd05110	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	48	cd05111	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	40	cd05112	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	40	cd05059	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	40	cd05113	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	40	cd05114	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	46	cd05088	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	68	cd05033	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	44	cd05065	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	47	cd05038	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	45	cd05079	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	44	cd05066	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	48	cd05108	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	41	cd06616	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	48	cd05109	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	36	cd07831	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	68	cd07848	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	38	cd08217	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	40	cd07833	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	96_G	cd05581	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	117	cd07842	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	39	cd07846	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	60	cd07840	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	46	cd06623	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	51	cd06609	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	40	cd06621	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	38	cd06605	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	38	cd06615	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	48	cd07856	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	39	cd07862	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	38	cd07847	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	37	cd07861	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	43	cd08229	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	37	cd08219	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	43	cd07872	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	37	cd05616	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	37	cd05587	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	43	cd07873	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	39	cd06610	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	87	cd05580	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	44	cd08529	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	43	cd08228	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	38	cd06617	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	39	cd07832	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	38	cd06622	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	59	cd06619	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	38	cd07837	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	COG0515	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	39	cd05612	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	43	cd07843	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	77	cd05104	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	46	cd05091	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	48	cd05048	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	46	cd05090	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	47	cd05049	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	46	cd05092	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd05096	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd05097	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	107	cd05046	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	78	cd05051	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	61	cd05095	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	47	cd05050	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	42	cd06620	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	45	cd05064	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	46	cd05063	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	46	cd05094	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	46	cd05093	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	79	cd05055	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	32	cd05041	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	34	cd05087	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	37	cd05042	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	36	cd05040	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	32	cd05085	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	31	cd05084	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	38	cd05044	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	54	cd05076	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	37	cd05078	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd05037	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	79	cd00192	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	42	cd05077	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	32	cd05602	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	39	cd07835	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	35_G	cd05588	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	34	cd05116	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	39	cd05060	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	35	cd05582	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	32	cd05590	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	32	cd05619	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	34	cd05570	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	32	cd05620	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	34	cd05086	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	42	cd05058	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	36_G	cd05593	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	32	cd05591	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	34	cd05603	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	39	cd08220	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	32	cd05592	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	32	cd05571	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	35_G	cd05617	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	36	cd05118	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	34	cd05594	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	81	cd05106	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	62	cd05098	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	38	cd05578	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	39	cd07838	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	173	smart00221	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	45	cd05080	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	138	smart00219	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	47	pfam00069	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	69	cd07830	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	47	cd06612	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	67	pfam07714	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	39	cd07829	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	39	cd05075	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	40	cd05074	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	50	cd05035	105990522,NP_075598
2260	120046	Disease	p.Ala520Thr	VAR_030995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030995	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	37	cd05589	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	69	cd06636	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	115	cd05057	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	67	cd05103	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	67	cd05054	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	67	cd05102	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	63	cd07845	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	85	cd06614	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	71	cd07878	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	78	cd07851	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	73	cd07850	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	82	cd06639	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	15	cd07852	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	73	cd06648	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	97	cd05107	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	173	smart00220	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd08221	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	42	cd05577	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	50	cd05608	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	50	cd05579	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	52	cd05115	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	79	cd05123	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	52	cd05047	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	99	cd05572	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	145	cd00180	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	50	cd05585	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd06917	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	72	cd06634	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	73	cd07877	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	59	cd05089	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	66	cd05061	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd05073	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd05070	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd05067	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd05068	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd05082	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd05034	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56_G	cd05083	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	60	cd05039	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	60	cd05148	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd05072	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	59	cd06637	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	66	cd05036	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	66	cd05062	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	97	cd05032	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	62	cd07858	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	93	cd05056	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	59	cd05052	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	60	cd07849	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	63	cd07864	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	60	cd07870	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd05071	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd05069	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	71	cd06638	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	74	cd05099	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	74	cd05053	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	74	cd05100	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	75	cd06659	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	76	cd06658	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	71	cd07880	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	77	cd05101	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	62	cd06624	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	73	cd06656	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	73	cd06655	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	72	cd06607	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	73	cd06647	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd08223	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	65	cd06628	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	72	cd05122	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	55	cd07836	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	59	cd07863	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd07860	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	55	cd05615	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	cd06606	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	59	cd06626	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd08225	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	60	cd05045	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	83	cd07834	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd07857	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd07859	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	74	cd08215	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	61	cd05614	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	61	cd06651	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	60	cd08222	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd08218	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	62	cd07854	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd08530	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	61	cd06627	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	70	cd07841	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd07853	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	65	cd06629	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	61	cd05583	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	61	cd05613	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	74	cd08528	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	63	cd06646	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	63	cd06645	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	82	cd06635	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	74	cd06657	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	61	cd06625	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd07839	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	61	cd06652	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	60	cd08224	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	61	cd06653	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	79	cd05043	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	60	cd07871	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	57	cd05630	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	57	cd05632	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	57	cd05605	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	62	cd05081	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	69	cd07865	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	59	cd06643	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	60	cd06611	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	66	cd06644	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	70	cd06618	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	59	cd06631	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	61	cd05584	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	60	cd06630	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	66	cd06632	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	60	cd07844	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	59	cd06640	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	59	cd06641	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58_G	cd06613	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	59	cd06642	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	84	cd06608	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	74	cd06654	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	97	cd05105	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	65	cd07866	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	66	cd05110	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	66	cd05111	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	55	cd05112	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd05059	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	55	cd05113	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	55	cd05114	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	64	cd05088	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	86	cd05033	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	62	cd05065	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	67	cd05038	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	63	cd05079	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	62	cd05066	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	66	cd05108	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	66	cd06616	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	66	cd05109	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	54	cd07831	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	86	cd07848	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd08217	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	77	cd07833	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	104	cd05581	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	151	cd07842	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd07846	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	82	cd07840	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	66	cd06623	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	69	cd06609	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	59	cd06621	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	57	cd06605	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	53_G	cd06615	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	66	cd07856	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd07862	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	57	cd07847	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd07861	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	59	cd08229	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	55	cd08219	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	61	cd07872	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	57	cd05616	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	57	cd05587	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	61	cd07873	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd06610	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	105	cd05580	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	60	cd08529	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	59	cd08228	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd06617	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd07832	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd06622	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	76	cd06619	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	57	cd07837	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	298	COG0515	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd05612	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	65	cd07843	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	95	cd05104	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	64	cd05091	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	66	cd05048	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	64	cd05090	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	65	cd05049	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	64	cd05092	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	76	cd05096	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	76	cd05097	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05046	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	98	cd05051	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	79	cd05095	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	65	cd05050	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	59_G	cd06620	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	63	cd05064	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	64	cd05063	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	64	cd05094	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	64	cd05093	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	97	cd05055	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	51	cd05041	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	52	cd05087	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	55	cd05042	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd05040	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	50	cd05085	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	50	cd05084	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd05044	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	72	cd05076	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	53	cd05078	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	73	cd05037	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	107	cd00192	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	61	cd05077	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	52	cd05602	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd07835	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	52	cd05588	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	53	cd05116	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd05060	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	53	cd05582	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	52	cd05590	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	52	cd05619	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	52	cd05570	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	52	cd05620	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	52	cd05086	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	60	cd05058	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	52	cd05593	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	52	cd05591	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	52	cd05603	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd08220	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	52	cd05592	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	52	cd05571	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	52	cd05617	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd05118	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	52	cd05594	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	99	cd05106	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	80	cd05098	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	57	cd05578	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	64	cd07838	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	277	smart00221	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	63	cd05080	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	210	smart00219	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	85	pfam00069	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	89_G	cd07830	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	66	cd06612	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	91	pfam07714	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	62	cd07829	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	57	cd05075	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	58	cd05074	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	68	cd05035	105990522,NP_075598
2260	120046	Disease	p.Ile538Val	VAR_030996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030996	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	56	cd05589	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd06636	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	170	cd05057	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd05103	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	237	cd05054	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	187	cd05102	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd07845	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	159	cd06614	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd07878	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	143	cd07851	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd07850	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	144	cd06639	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	cd07852	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	26	smart00750	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd06648	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	251	cd05107	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	377	smart00220	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	111	cd08221	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	109	cd05577	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	106	cd05608	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	105	cd05579	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	104	cd05115	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	624	cd05123	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	121	cd05047	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	176	cd05572	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	339	cd00180	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	104	cd05585	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	121	cd06917	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd06634	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd07877	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd05089	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd05061	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	112	cd05073	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	111	cd05070	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	111	cd05067	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	114	cd05068	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	111	cd05082	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	112	cd05034	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	109	cd05083	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	115	cd05039	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	114	cd05148	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	112	cd05072	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd06637	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd05036	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd05062	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	173	cd05032	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	cd07858	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	145	cd05056	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	113	cd05052	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd07849	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd07864	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	112	cd07870	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	111	cd05071	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	111	cd05069	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd06638	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	143	cd05099	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	159	cd05053	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	143	cd05100	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd06659	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd06658	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd07880	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	146	cd05101	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	122	cd06624	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd06656	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd06655	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd06607	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd06647	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	111	cd08223	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	117	cd06628	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd05122	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	112	cd07836	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd07863	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	109	cd07860	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	110	cd05615	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd06606	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	111	cd06626	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	110	cd08225	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	136	cd05045	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	152	cd07834	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	cd07857	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	112	cd07859	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	147	cd08215	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	114	cd05614	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	115	cd06651	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	116	cd08222	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	110	cd08218	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	135	cd07854	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	115	cd08530	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	116	cd06627	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd07841	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	113	cd07853	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd06629	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	116	cd05583	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	121	cd05613	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	131	cd08528	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	115	cd06646	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	115	cd06645	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd06635	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd06657	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	115	cd06625	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	108	cd07839	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06652	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	116	cd08224	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	115	cd06653	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	151	cd05043	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	112	cd07871	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	111	cd05630	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	111	cd05632	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	111	cd05605	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	117	cd05081	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd07865	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	112	cd06643	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	114	cd06611	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd06644	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd06618	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	113	cd06631	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	113	cd05584	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	112	cd06630	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd06632	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	113	cd07844	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	110	cd06640	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	110	cd06641	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	112	cd06613	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	110	cd06642	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	152	cd06608	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd06654	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	249	cd05105	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	140	cd07866	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	cd05110	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	cd05111	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	109	cd05112	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	111	cd05059	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	110	cd05113	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	109	cd05114	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd05088	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd05033	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	115	cd05065	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	137	cd05038	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	cd05079	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	115	cd05066	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	cd05108	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	123	cd06616	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	cd05109	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	110	cd07831	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	138	cd07848	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	140	cd08217	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	131	cd07833	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd05581	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd07842	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	110	cd07846	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	158	cd07840	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	144	cd06623	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	132	cd06609	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd06621	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd06605	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	110	cd06615	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	117	cd07856	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd07862	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	109	cd07847	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	111	cd07861	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	115	cd08229	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	109	cd08219	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	113	cd07872	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	110	cd05616	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	115	cd05587	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	113	cd07873	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	121	cd06610	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	162	cd05580	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	115	cd08529	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	115	cd08228	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	113	cd06617	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd07832	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	123	cd06622	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd06619	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd07837	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	479	COG0515	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	110	cd05612	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd07843	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	233	cd05104	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd05091	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	136	cd05048	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd05090	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	136	cd05049	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	131	cd05092	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	165	cd05096	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	140	cd05097	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd05046	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	170	cd05051	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	150	cd05095	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd05050	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	114	cd06620	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	116	cd05064	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	117	cd05063	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	132	cd05094	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd05093	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05055	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	105	cd05041	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	114	cd05087	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	112	cd05042	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	113	cd05040	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	103	cd05085	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	103	cd05084	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd05044	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05076	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	111	cd05078	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd05037	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	316	cd00192	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	114	cd05077	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	105	cd05602	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	135	cd07835	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	107	cd05588	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	104	cd05116	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	111	cd05060	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	107	cd05582	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	105	cd05590	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	105	cd05619	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	107	cd05570	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	cd05620	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	109	cd05086	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	114	cd05058	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	104	cd05593	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	105	cd05591	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	105	cd05603	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd08220	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	cd05592	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	104	cd05571	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	105	cd05617	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	cd05118	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	107_G	cd05594	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd05106	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	149	cd05098	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	110	cd05578	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	135	cd07838	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	470	smart00221	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	116	cd05080	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	393	smart00219	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	pfam00069	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	161	cd07830	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd06612	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	263	pfam07714	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	149	cd07829	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	136	cd05075	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	122	cd05074	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	132	cd05035	105990522,NP_075598
2260	120046	Disease	p.Val607Met	VAR_017889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017889	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	110	cd05589	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	144	cd06636	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	185	cd05057	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd05103	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	251	cd05054	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd05102	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	144	cd07845	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	175	cd06614	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	141	cd07878	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	157	cd07851	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	143	cd07850	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	158	cd06639	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	132	cd07852	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	46	smart00750	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06648	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	265	cd05107	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	425	smart00220	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd08221	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	123	cd05577	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05608	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd05579	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	cd05115	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	639	cd05123	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	135	cd05047	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd05572	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	364	cd00180	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	116	cd05585	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd06917	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	138	cd06634	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	143	cd07877	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd05089	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	143	cd05061	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05073	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05070	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05067	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd05068	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05082	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05034	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	123	cd05083	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd05039	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd05148	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05072	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd06637	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	141	cd05036	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd05062	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	187	cd05032	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	132	cd07858	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	159	cd05056	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd05052	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd07849	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	141	cd07864	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd07870	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05071	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05069	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	147	cd06638	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	157	cd05099	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	173	cd05053	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	157	cd05100	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	140	cd06659	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	141	cd06658	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	141	cd07880	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	160	cd05101	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	136	cd06624	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	138	cd06656	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	138	cd06655	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	138	cd06607	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	138	cd06647	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd08223	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	131	cd06628	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	157	cd05122	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd07836	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd07863	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	123	cd07860	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd05615	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd06606	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd06626	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd08225	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	150	cd05045	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	166	cd07834	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	132	cd07857	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd07859	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	166	cd08215	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd05614	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd06651	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd08222	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd08218	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	149	cd07854	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd08530	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd06627	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	140	cd07841	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd07853	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd06629	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd05583	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	141	cd05613	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	146	cd08528	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd06646	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd06645	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	148	cd06635	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06657	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd06625	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	122	cd07839	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	153	cd06652	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd08224	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd06653	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	165	cd05043	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd07871	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05630	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05632	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05605	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	131	cd05081	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	147	cd07865	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd06643	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd06611	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd06644	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd06618	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd06631	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd05584	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd06630	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd06632	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd07844	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd06640	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd06641	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd06613	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd06642	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	166	cd06608	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06654	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	263	cd05105	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	154	cd07866	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	132	cd05110	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	132	cd05111	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	123	cd05112	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05059	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd05113	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	123	cd05114	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	147	cd05088	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	161	cd05033	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd05065	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	151	cd05038	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	132	cd05079	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd05066	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	132	cd05108	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	138	cd06616	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	132	cd05109	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd07831	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	152	cd07848	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	155	cd08217	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	145	cd07833	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	239	cd05581	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd07842	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd07846	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	172	cd07840	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	171	cd06623	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	146	cd06609	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd06621	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	141	cd06605	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd06615	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	131	cd07856	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd07862	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd07847	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd07861	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd08229	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	123	cd08219	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd07872	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd05616	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd05587	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd07873	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	135	cd06610	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	177	cd05580	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd08529	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd08228	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd06617	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	138	cd07832	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	138	cd06622	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06619	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	141	cd07837	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	555	COG0515	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd05612	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	141	cd07843	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	247	cd05104	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	147	cd05091	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	150	cd05048	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	147	cd05090	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	150	cd05049	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	145	cd05092	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	179	cd05096	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	154	cd05097	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd05046	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	184	cd05051	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	164	cd05095	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	156	cd05050	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd06620	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd05064	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	131	cd05063	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	146	cd05094	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	143	cd05093	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	262	cd05055	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd05041	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd05087	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05042	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd05040	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	117	cd05085	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	117	cd05084	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd05044	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	140	cd05076	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05078	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd05037	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	332	cd00192	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd05077	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd05602	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	149	cd07835	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd05588	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	cd05116	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05060	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	121	cd05582	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd05590	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd05619	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	121	cd05570	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd05620	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	123	cd05086	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd05058	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	cd05593	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd05591	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd05603	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd08220	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd05592	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd05571	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd05617	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	132	cd05118	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd05594	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	245	cd05106	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	163	cd05098	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd05578	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	149	cd07838	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	535	smart00221	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd05080	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	420	smart00219	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	pfam00069	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	175	cd07830	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	138	cd06612	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	279	pfam07714	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	163	cd07829	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	150	cd05075	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	136	cd05074	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	146	cd05035	105990522,NP_075598
2260	120046	Disease	p.His621Arg	VAR_030997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030997	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd05589	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	145	cd06636	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd05057	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd05103	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	252	cd05054	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd05102	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	145	cd07845	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	176	cd06614	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd07878	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	158	cd07851	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	144	cd07850	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	159	cd06639	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd07852	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	47	smart00750	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	140	cd06648	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	266	cd05107	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	426	smart00220	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd08221	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd05577	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	121	cd05608	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05579	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd05115	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	640	cd05123	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	136	cd05047	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	192	cd05572	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	365	cd00180	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	117	cd05585	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd06917	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06634	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	144	cd07877	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	143	cd05089	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	144	cd05061	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd05073	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05070	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05067	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd05068	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05082	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd05034	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd05083	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd05039	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd05148	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd05072	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	135	cd06637	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd05036	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	143	cd05062	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd05032	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd07858	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	160	cd05056	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd05052	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd07849	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd07864	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd07870	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05071	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05069	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	148	cd06638	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	158	cd05099	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	174	cd05053	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	158	cd05100	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	141	cd06659	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd06658	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd07880	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	161	cd05101	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	137	cd06624	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06656	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06655	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06607	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06647	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd08223	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	132	cd06628	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	158	cd05122	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd07836	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	135	cd07863	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd07860	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05615	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	205	cd06606	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd06626	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd08225	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	151	cd05045	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	167	cd07834	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd07857	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd07859	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	167	cd08215	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd05614	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd06651	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	131	cd08222	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd08218	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	150	cd07854	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd08530	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	131	cd06627	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	141	cd07841	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd07853	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd06629	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd05583	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd05613	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	147	cd08528	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd06646	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd06645	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	149	cd06635	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	140	cd06657	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd06625	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	123	cd07839	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	154	cd06652	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	131	cd08224	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd06653	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	166	cd05043	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd07871	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05630	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05632	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05605	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	132	cd05081	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	148	cd07865	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd06643	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd06611	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd06644	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	143	cd06618	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd06631	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd05584	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd06630	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	143	cd06632	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd07844	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd06640	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd06641	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd06613	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd06642	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	167	cd06608	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	140	cd06654	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	264	cd05105	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	155	cd07866	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd05110	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd05111	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd05112	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05059	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05113	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd05114	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	148	cd05088	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	162	cd05033	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd05065	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	152	cd05038	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd05079	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd05066	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd05108	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06616	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd05109	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd07831	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	153	cd07848	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	156	cd08217	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	146	cd07833	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	240	cd05581	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd07842	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd07846	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	173	cd07840	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	172	cd06623	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	147	cd06609	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd06621	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd06605	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd06615	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	132	cd07856	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd07862	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd07847	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd07861	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd08229	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd08219	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd07872	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05616	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd05587	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd07873	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	136	cd06610	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	178	cd05580	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd08529	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd08228	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd06617	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd07832	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06622	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	140	cd06619	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd07837	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	556	COG0515	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05612	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd07843	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05104	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	148	cd05091	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	151	cd05048	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	148	cd05090	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	151	cd05049	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	146	cd05092	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	180	cd05096	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	155	cd05097	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	210	cd05046	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	185	cd05051	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	165	cd05095	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	157	cd05050	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd06620	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	131	cd05064	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	132	cd05063	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	147	cd05094	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	144	cd05093	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	263	cd05055	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05041	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd05087	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd05042	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd05040	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	cd05085	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	cd05084	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd05044	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	141	cd05076	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05078	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	143	cd05037	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	333	cd00192	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd05077	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05602	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	150	cd07835	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05588	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd05116	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05060	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	122	cd05582	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05590	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05619	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	122	cd05570	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	135	cd05620	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd05086	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd05058	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd05593	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05591	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05603	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd08220	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	135	cd05592	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05571	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05617	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd05118	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05594	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd05106	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	164	cd05098	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05578	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	150	cd07838	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	536	smart00221	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	131	cd05080	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	421	smart00219	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	215	pfam00069	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	176	cd07830	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06612	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	280	pfam07714	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	164	cd07829	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	151	cd05075	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	137	cd05074	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	147	cd05035	105990522,NP_075598
2260	120046	Disease	p.Arg622Gly	VAR_030998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030998	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05589	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	145	cd06636	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd05057	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd05103	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	252	cd05054	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd05102	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	145	cd07845	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	176	cd06614	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd07878	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	158	cd07851	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	144	cd07850	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	159	cd06639	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd07852	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	47	smart00750	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	140	cd06648	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	266	cd05107	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	426	smart00220	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd08221	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd05577	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	121	cd05608	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05579	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd05115	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	640	cd05123	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	136	cd05047	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	192	cd05572	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	365	cd00180	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	117	cd05585	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd06917	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06634	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	144	cd07877	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	143	cd05089	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	144	cd05061	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd05073	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05070	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05067	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd05068	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05082	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd05034	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd05083	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd05039	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd05148	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd05072	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	135	cd06637	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd05036	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	143	cd05062	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd05032	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd07858	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	160	cd05056	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd05052	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd07849	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd07864	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd07870	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05071	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05069	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	148	cd06638	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	158	cd05099	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	174	cd05053	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	158	cd05100	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	141	cd06659	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd06658	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd07880	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	161	cd05101	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	137	cd06624	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06656	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06655	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06607	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06647	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd08223	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	132	cd06628	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	158	cd05122	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd07836	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	135	cd07863	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd07860	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05615	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	205	cd06606	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd06626	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd08225	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	151	cd05045	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	167	cd07834	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd07857	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd07859	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	167	cd08215	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd05614	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd06651	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	131	cd08222	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd08218	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	150	cd07854	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd08530	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	131	cd06627	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	141	cd07841	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd07853	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd06629	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd05583	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd05613	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	147	cd08528	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd06646	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd06645	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	149	cd06635	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	140	cd06657	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd06625	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	123	cd07839	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	154	cd06652	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	131	cd08224	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd06653	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	166	cd05043	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd07871	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05630	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05632	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05605	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	132	cd05081	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	148	cd07865	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd06643	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd06611	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd06644	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	143	cd06618	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd06631	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd05584	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd06630	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	143	cd06632	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd07844	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd06640	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd06641	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd06613	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd06642	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	167	cd06608	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	140	cd06654	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	264	cd05105	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	155	cd07866	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd05110	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd05111	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd05112	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05059	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05113	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd05114	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	148	cd05088	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	162	cd05033	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd05065	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	152	cd05038	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd05079	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd05066	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd05108	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06616	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd05109	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd07831	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	153	cd07848	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	156	cd08217	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	146	cd07833	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	240	cd05581	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd07842	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd07846	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	173	cd07840	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	172	cd06623	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	147	cd06609	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd06621	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd06605	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd06615	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	132	cd07856	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd07862	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd07847	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd07861	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd08229	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd08219	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd07872	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05616	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd05587	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd07873	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	136	cd06610	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	178	cd05580	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd08529	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd08228	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd06617	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd07832	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06622	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	140	cd06619	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd07837	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	556	COG0515	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05612	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	142	cd07843	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05104	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	148	cd05091	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	151	cd05048	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	148	cd05090	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	151	cd05049	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	146	cd05092	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	180	cd05096	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	155	cd05097	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	210	cd05046	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	185	cd05051	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	165	cd05095	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	157	cd05050	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	130	cd06620	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	131	cd05064	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	132	cd05063	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	147	cd05094	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	144	cd05093	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	263	cd05055	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05041	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd05087	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	127	cd05042	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	128	cd05040	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	cd05085	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	118	cd05084	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd05044	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	141	cd05076	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05078	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	143	cd05037	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	333	cd00192	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd05077	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05602	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	150	cd07835	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05588	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd05116	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	126	cd05060	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	122	cd05582	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05590	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05619	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	122	cd05570	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	135	cd05620	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	124	cd05086	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	129	cd05058	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	119	cd05593	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05591	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05603	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	134	cd08220	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	135	cd05592	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05571	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05617	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	133	cd05118	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	120	cd05594	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd05106	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	164	cd05098	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05578	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	150	cd07838	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	536	smart00221	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	131	cd05080	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	421	smart00219	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	215	pfam00069	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	176	cd07830	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	139	cd06612	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	280	pfam07714	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	164	cd07829	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	151	cd05075	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	137	cd05074	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	147	cd05035	105990522,NP_075598
2260	120046	Disease	p.Arg622Gln	VAR_030999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030999	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	125	cd05589	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	187	cd06636	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd05057	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05103	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	297	cd05054	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd05102	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd07845	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd06614	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	180	cd07878	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd07851	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	187	cd07850	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd06639	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	184	cd07852	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	113	smart00750	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	182	cd06648	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	310	cd05107	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	706	smart00220	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	170	cd08221	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	166	cd05577	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	163	cd05608	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	700	cd05579	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	164	cd05115	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	689	cd05123	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	177	cd05047	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	229	cd05572	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	626	cd00180	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	159	cd05585	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	179	cd06917	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	177	cd06634	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	182	cd07877	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	184	cd05089	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd05061	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	170	cd05073	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	169	cd05070	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	169	cd05067	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	175	cd05068	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	165	cd05082	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	180	cd05034	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	163	cd05083	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	172	cd05039	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	172	cd05148	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	170	cd05072	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	177	cd06637	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	190	cd05036	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	187	cd05062	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	232	cd05032	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	178	cd07858	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	205	cd05056	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	171	cd05052	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd07849	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd07864	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	169	cd07870	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	169	cd05071	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	169	cd05069	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	190	cd06638	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd05099	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd05053	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd05100	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	183	cd06659	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	184	cd06658	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	180	cd07880	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	205	cd05101	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	180	cd06624	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	181	cd06656	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	181	cd06655	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	177	cd06607	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	181	cd06647	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	168	cd08223	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	182	cd06628	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05122	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	169	cd07836	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	175	cd07863	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	166	cd07860	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	167	cd05615	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	282	cd06606	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd06626	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	168	cd08225	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd05045	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	242	cd07834	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	182	cd07857	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	168	cd07859	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	234_G	cd08215	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	172	cd05614	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	175	cd06651	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	172	cd08222	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	167	cd08218	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd07854	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	174	cd08530	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd06627	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd07841	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	171	cd07853	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	179	cd06629	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	173	cd05583	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	185	cd05613	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd08528	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	172	cd06646	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	172	cd06645	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	187	cd06635	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	182	cd06657	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	175	cd06625	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	165	cd07839	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd06652	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	173	cd08224	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	175	cd06653	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd05043	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	169	cd07871	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	167	cd05630	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	167	cd05632	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	167	cd05605	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	177	cd05081	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd07865	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	169	cd06643	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	171	cd06611	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	176	cd06644	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	184	cd06618	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	176	cd06631	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	170	cd05584	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	175	cd06630	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd06632	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	170	cd07844	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	167	cd06640	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	167	cd06641	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	169	cd06613	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	167	cd06642	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd06608	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	182	cd06654	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	308	cd05105	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd07866	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	177	cd05110	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	177	cd05111	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	167	cd05112	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	169	cd05059	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	168	cd05113	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	167	cd05114	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd05088	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd05033	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	177	cd05065	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd05038	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	178	cd05079	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	175	cd05066	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	177	cd05108	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	180	cd06616	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	177	cd05109	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	171	cd07831	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd07848	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	237_G	cd08217	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd07833	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	403	cd05581	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	280	cd07842	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	167	cd07846	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd07840	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd06623	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd06609	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	175_G	cd06621	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	185	cd06605	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	166	cd06615	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	172_G	cd07856	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	176	cd07862	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	173	cd07847	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	168	cd07861	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	172	cd08229	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	166	cd08219	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	170	cd07872	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	167	cd05616	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	172	cd05587	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	170	cd07873	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd06610	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227_G	cd05580	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	172	cd08529	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	172	cd08228	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	170	cd06617	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	187	cd07832	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	190	cd06622	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	180	cd06619	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	185	cd07837	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	803	COG0515	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	164	cd05612	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd07843	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	292	cd05104	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	192	cd05091	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd05048	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	192	cd05090	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd05049	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	190	cd05092	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	235	cd05096	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd05097	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	253	cd05046	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	238	cd05051	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd05095	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd05050	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	170	cd06620	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	175	cd05064	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	177	cd05063	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05094	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd05093	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	307	cd05055	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	164	cd05041	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	173	cd05087	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	172	cd05042	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	179	cd05040	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	161	cd05085	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	162	cd05084	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	185	cd05044	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd05076	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	172	cd05078	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd05037	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	397	cd00192	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	174	cd05077	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	162	cd05602	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	193	cd07835	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	162	cd05588	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	164	cd05116	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	171	cd05060	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	164	cd05582	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	162	cd05590	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	162	cd05619	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	164	cd05570	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	177	cd05620	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	168	cd05086	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	175	cd05058	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	161	cd05593	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	162	cd05591	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	162	cd05603	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	176	cd08220	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	178	cd05592	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	162	cd05571	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	162	cd05617	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	177	cd05118	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	162	cd05594	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	290	cd05106	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd05098	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	172	cd05578	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd07838	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	769	smart00221	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	176	cd05080	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	553	smart00219	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	295	pfam00069	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	242_G	cd07830	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	182	cd06612	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	348	pfam07714	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	210	cd07829	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd05075	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	181	cd05074	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd05035	105990522,NP_075598
2260	120046	Disease	p.Trp666Arg	VAR_017890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017890	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	167	cd05589	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd06636	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	250	cd05057	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	267	cd05103	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	316	cd05054	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	265	cd05102	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd07845	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	239	cd06614	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd07878	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	221	cd07851	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd07850	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd06639	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd07852	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	176	smart00750	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd06648	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	329	cd05107	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	779	smart00220	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd08221	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd05577	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	182	cd05608	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	729	cd05579	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	183	cd05115	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	797	cd05123	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05047	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	256	cd05572	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	670	cd00180	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	178	cd05585	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd06917	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd06634	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd07877	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd05089	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd05061	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd05073	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd05070	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd05067	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd05068	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	184	cd05082	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd05034	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	182	cd05083	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd05039	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd05148	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd05072	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd06637	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd05036	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05062	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	251	cd05032	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd07858	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	224	cd05056	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	190	cd05052	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	210	cd07849	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd07864	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd07870	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd05071	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd05069	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd06638	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	221	cd05099	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	237	cd05053	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	221	cd05100	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd06659	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd06658	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd07880	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	224	cd05101	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd06624	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd06656	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd06655	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd06607	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd06647	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	187	cd08223	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd06628	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd05122	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd07836	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd07863	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd07860	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd05615	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	331	cd06606	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	232	cd06626	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	187	cd08225	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05045	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	274	cd07834	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd07857	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd07859	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	254	cd08215	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	192	cd05614	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd06651	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd08222	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd08218	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd07854	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	193	cd08530	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd06627	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd07841	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd07853	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd06629	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd05583	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05613	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd08528	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd06646	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd06645	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd06635	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd06657	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd06625	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	185	cd07839	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06652	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	192	cd08224	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd06653	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	232	cd05043	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd07871	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd05630	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd05632	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd05605	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05081	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd07865	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	193	cd06643	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd06611	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd06644	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd06618	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd06631	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd05584	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd06630	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd06632	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	190	cd07844	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd06640	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd06641	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd06613	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd06642	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	238	cd06608	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd06654	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	327	cd05105	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	235	cd07866	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05110	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05111	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd05112	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd05059	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	187	cd05113	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd05114	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd05088	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd05033	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05065	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd05038	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	197	cd05079	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd05066	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05108	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd06616	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05109	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	192	cd07831	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	215	cd07848	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	258	cd08217	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	245	cd07833	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	436	cd05581	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	301	cd07842	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd07846	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	285	cd07840	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	244	cd06623	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd06609	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd06621	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd06605	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	185	cd06615	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd07856	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd07862	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	193	cd07847	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd07861	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd08229	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	185	cd08219	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	190	cd07872	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd05616	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd05587	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	190	cd07873	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd06610	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05580	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd08529	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd08228	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	193	cd06617	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd07832	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	210	cd06622	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd06619	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	205	cd07837	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	891	COG0515	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	183	cd05612	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd07843	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	311	cd05104	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd05091	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05048	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd05090	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	219	cd05049	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd05092	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	254	cd05096	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd05097	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	272	cd05046	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	257	cd05051	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd05095	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd05050	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd06620	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd05064	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05063	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd05094	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd05093	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	326	cd05055	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	183	cd05041	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd05087	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05042	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05040	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	180	cd05085	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	181	cd05084	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd05044	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd05076	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	192	cd05078	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd05037	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	423	cd00192	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd05077	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	181	cd05602	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd07835	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	181	cd05588	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	183	cd05116	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	190	cd05060	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	183	cd05582	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	181	cd05590	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	181	cd05619	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	183	cd05570	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05620	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd05086	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd05058	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	180	cd05593	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	181	cd05591	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	181	cd05603	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd08220	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	197	cd05592	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	181	cd05571	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	181	cd05617	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05118	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	181	cd05594	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	309	cd05106	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd05098	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05578	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	234	cd07838	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	840	smart00221	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd05080	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	574	smart00219	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	337	pfam00069	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261	cd07830	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	205	cd06612	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	382	pfam07714	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	240	cd07829	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05075	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd05074	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	210	cd05035	105990522,NP_075598
2260	120046	Disease	p.Ser685Phe	VAR_031000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031000	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd05589	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd06636	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	252	cd05057	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	269	cd05103	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	318	cd05054	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	267	cd05102	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd07845	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	241	cd06614	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd07878	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd07851	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd07850	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd06639	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd07852	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	178	smart00750	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd06648	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	331	cd05107	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	781	smart00220	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd08221	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd05577	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	184	cd05608	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	731	cd05579	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	185	cd05115	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	799	cd05123	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05047	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	258	cd05572	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	672	cd00180	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	180	cd05585	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd06917	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd06634	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	205	cd07877	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	205	cd05089	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd05061	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd05073	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	190	cd05070	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	190	cd05067	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05068	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd05082	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd05034	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	184	cd05083	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	193	cd05039	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	193	cd05148	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd05072	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd06637	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd05036	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd05062	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	253	cd05032	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd07858	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd05056	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	192	cd05052	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd07849	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd07864	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd07870	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	190	cd05071	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	190	cd05069	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd06638	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd05099	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	239	cd05053	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd05100	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd06659	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	205	cd06658	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd07880	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd05101	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd06624	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd06656	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd06655	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd06607	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd06647	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd08223	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd06628	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	232	cd05122	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd07836	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	197	cd07863	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd07860	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd05615	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	333	cd06606	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	234	cd06626	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd08225	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd05045	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	276	cd07834	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	205	cd07857	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd07859	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	256	cd08215	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd05614	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd06651	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	193	cd08222	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd08218	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd07854	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd08530	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	232	cd06627	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd07841	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	193	cd07853	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd06629	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05583	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd05613	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	210	cd08528	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd06646	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd06645	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd06635	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd06657	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	197	cd06625	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	187	cd07839	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd06652	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd08224	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd06653	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	234	cd05043	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd07871	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd05630	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd05632	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd05605	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05081	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd07865	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd06643	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	197	cd06611	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd06644	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	210	cd06618	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	197	cd06631	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd05584	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd06630	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd06632	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	192	cd07844	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd06640	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd06641	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd06613	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd06642	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	240	cd06608	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd06654	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	329	cd05105	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	237	cd07866	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05110	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05111	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd05112	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	190	cd05059	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd05113	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd05114	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	210	cd05088	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	232	cd05033	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05065	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd05038	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd05079	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05066	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05108	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	205	cd06616	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05109	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd07831	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd07848	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	260	cd08217	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	247	cd07833	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	438	cd05581	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	303	cd07842	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	190	cd07846	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	287	cd07840	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd06623	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06609	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd06621	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd06605	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	187	cd06615	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	193	cd07856	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	197	cd07862	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd07847	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	190	cd07861	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	193	cd08229	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	187	cd08219	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	192	cd07872	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd05616	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	193	cd05587	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	192	cd07873	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd06610	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	250	cd05580	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	193	cd08529	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	193	cd08228	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd06617	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	210	cd07832	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd06622	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd06619	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd07837	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	893	COG0515	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	185	cd05612	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd07843	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	313	cd05104	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd05091	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd05048	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd05090	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	221	cd05049	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd05092	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	256	cd05096	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd05097	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	274	cd05046	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	259	cd05051	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd05095	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd05050	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	193	cd06620	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05064	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05063	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	219	cd05094	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd05093	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	328	cd05055	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	185	cd05041	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd05087	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd05042	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd05040	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	182	cd05085	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	183	cd05084	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05044	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd05076	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd05078	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd05037	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	425	cd00192	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05077	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	183	cd05602	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	215	cd07835	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	183	cd05588	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	185	cd05116	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	192	cd05060	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	185	cd05582	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	183	cd05590	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	183	cd05619	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	185	cd05570	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05620	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05086	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05058	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	182	cd05593	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	183	cd05591	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	183	cd05603	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	197	cd08220	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd05592	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	183	cd05571	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	183	cd05617	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd05118	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	183	cd05594	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	311	cd05106	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	229	cd05098	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05578	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	236	cd07838	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	842	smart00221	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	197	cd05080	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	576	smart00219	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	339	pfam00069	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	263	cd07830	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd06612	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	384	pfam07714	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	242	cd07829	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd05075	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd05074	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd05035	105990522,NP_075598
2260	120046	Disease	p.Gly687Arg	VAR_031001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031001	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd05589	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	219	cd06636	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	258	cd05057	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	275	cd05103	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	324	cd05054	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	273	cd05102	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd07845	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	247	cd06614	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd07878	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	229	cd07851	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd07850	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	233	cd06639	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd07852	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	184	smart00750	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd06648	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	337	cd05107	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	787	smart00220	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	197	cd08221	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd05577	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	190	cd05608	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	737	cd05579	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd05115	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	805	cd05123	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd05047	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	264	cd05572	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	678	cd00180	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	186	cd05585	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd06917	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd06634	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd07877	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd05089	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	215	cd05061	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	197	cd05073	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05070	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05067	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd05068	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	192	cd05082	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd05034	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	190	cd05083	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd05039	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd05148	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	197	cd05072	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd06637	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd05036	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05062	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	259	cd05032	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd07858	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	232	cd05056	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05052	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd07849	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd07864	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	197	cd07870	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05071	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05069	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd06638	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	229	cd05099	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	245	cd05053	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	229	cd05100	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	210	cd06659	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd06658	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd07880	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	232	cd05101	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd06624	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd06656	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd06655	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd06607	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd06647	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd08223	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd06628	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	238	cd05122	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	197	cd07836	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd07863	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd07860	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd05615	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	339	cd06606	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	240	cd06626	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd08225	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd05045	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	282	cd07834	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd07857	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd07859	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	262	cd08215	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd05614	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd06651	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd08222	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd08218	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	224	cd07854	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd08530	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	238	cd06627	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	251	cd07841	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd07853	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd06629	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd05583	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05613	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd08528	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd06646	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd06645	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd06635	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd06657	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd06625	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	193	cd07839	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd06652	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd08224	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd06653	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	240	cd05043	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	197	cd07871	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd05630	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd05632	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd05605	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd05081	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	243	cd07865	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd06643	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd06611	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd06644	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd06618	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd06631	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	197	cd05584	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd06630	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	219	cd06632	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd07844	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd06640	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd06641	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd06613	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd06642	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	241	cd06608	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd06654	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	335	cd05105	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	243	cd07866	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd05110	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd05111	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd05112	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd05059	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd05113	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd05114	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd05088	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	238	cd05033	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd05065	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd05038	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	205	cd05079	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd05066	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd05108	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd06616	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd05109	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd07831	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd07848	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	266	cd08217	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	253	cd07833	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	444	cd05581	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	341	cd07842	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd07846	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	293	cd07840	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	251_G	cd06623	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	224	cd06609	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd06621	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd06605	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	193	cd06615	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd07856	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd07862	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd07847	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	196	cd07861	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd08229	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	193	cd08219	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd07872	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd05616	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd05587	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd07873	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd06610	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	255_G	cd05580	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd08529	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd08228	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd06617	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd07832	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06622	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd06619	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd07837	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	926	COG0515	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd05612	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	236	cd07843	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	319	cd05104	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	219	cd05091	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd05048	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	219	cd05090	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd05049	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd05092	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	262	cd05096	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd05097	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	280	cd05046	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	265	cd05051	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	236	cd05095	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd05050	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd06620	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd05064	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd05063	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd05094	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	215	cd05093	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	334	cd05055	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd05041	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd05087	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05042	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05040	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd05085	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd05084	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd05044	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	215	cd05076	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd05078	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	224	cd05037	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	431	cd00192	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd05077	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd05602	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	221	cd07835	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd05588	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd05116	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05060	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd05582	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd05590	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd05619	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	191	cd05570	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd05620	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd05086	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd05058	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	cd05593	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd05591	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd05603	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd08220	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	205	cd05592	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd05571	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd05617	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05118	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	189	cd05594	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	317	cd05106	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	235	cd05098	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd05578	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	242	cd07838	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	859	smart00221	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd05080	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	583	smart00219	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	345	pfam00069	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	269	cd07830	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd06612	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	390	pfam07714	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd07829	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd05075	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd05074	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd05035	105990522,NP_075598
2260	120046	Disease	p.Ile693Phe	VAR_031002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031002	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	194	cd05589	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd06636	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	268	cd05057	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	285	cd05103	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	334	cd05054	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	283	cd05102	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	219_G	cd07845	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	256	cd06614	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd07878	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	253	cd07851	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd07850	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	242	cd06639	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd07852	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	smart00750	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06648	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	347	cd05107	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	806	smart00220	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd08221	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05577	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd05608	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	746	cd05579	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd05115	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	814	cd05123	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05047	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	272	cd05572	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	688	cd00180	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd05585	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd06917	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	219	cd06634	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	235	cd07877	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	221	cd05089	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd05061	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd05073	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05070	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05067	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd05068	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd05082	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd05034	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd05083	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd05039	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd05148	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd05072	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06637	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd05036	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	224	cd05062	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	269	cd05032	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd07858	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	242	cd05056	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd05052	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd07849	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd07864	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd07870	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05071	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05069	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd06638	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	239	cd05099	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	256	cd05053	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	240	cd05100	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd06659	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd06658	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd07880	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	242	cd05101	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd06624	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06656	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06655	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd06607	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06647	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd08223	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06628	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	247	cd05122	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd07836	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd07863	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd07860	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd05615	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	349	cd06606	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	249	cd06626	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd08225	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	232	cd05045	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	337	cd07834	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd07857	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	215	cd07859	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	272	cd08215	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05614	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd06651	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd08222	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd08218	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	233	cd07854	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	210	cd08530	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd06627	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261	cd07841	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd07853	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06629	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209_G	cd05583	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd05613	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd08528	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd06646	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd06645	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd06635	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06657	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd06625	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd07839	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	236	cd06652	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd08224	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd06653	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	250	cd05043	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd07871	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd05630	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd05632	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd05605	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd05081	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	257	cd07865	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd06643	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd06611	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06644	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd06618	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd06631	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05584	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd06630	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd06632	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd07844	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd06640	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd06641	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd06613	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd06642	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	255	cd06608	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	219	cd06654	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	345	cd05105	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	267	cd07866	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05110	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05111	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd05112	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05059	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	205	cd05113	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd05114	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd05088	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05033	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05065	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	255	cd05038	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	215	cd05079	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd05066	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05108	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd06616	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05109	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd07831	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	232	cd07848	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	275	cd08217	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	284	cd07833	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	453	cd05581	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	361	cd07842	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	205	cd07846	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	302	cd07840	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261	cd06623	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	233	cd06609	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd06621	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd06605	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd06615	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd07856	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd07862	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	210	cd07847	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd07861	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd08229	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd08219	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd07872	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd05616	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd05587	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd07873	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd06610	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	265	cd05580	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207_G	cd08529	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd08228	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd06617	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	242	cd07832	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd06622	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd06619	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd07837	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	939	COG0515	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd05612	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	251	cd07843	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	329	cd05104	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	229	cd05091	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	232	cd05048	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	229	cd05090	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	237	cd05049	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd05092	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	273	cd05096	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	237	cd05097	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	291	cd05046	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	276	cd05051	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	247	cd05095	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	238	cd05050	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd06620	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd05064	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05063	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	235	cd05094	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd05093	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	344	cd05055	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd05041	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd05087	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd05042	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd05040	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05085	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd05084	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd05044	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd05076	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd05078	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	236	cd05037	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	444	cd00192	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd05077	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05602	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd07835	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05588	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd05116	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd05060	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd05582	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05590	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05619	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd05570	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd05620	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd05086	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd05058	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	197	cd05593	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05591	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05603	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd08220	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05592	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05571	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd05617	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	235	cd05118	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05594	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	327	cd05106	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	245	cd05098	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd05578	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	267	cd07838	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	872	smart00221	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd05080	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	613	smart00219	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	366	pfam00069	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	298	cd07830	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd06612	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	415	pfam07714	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	258	cd07829	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	232	cd05075	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd05074	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd05035	105990522,NP_075598
2260	120046	Disease	p.Gly703Arg	VAR_031003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031003	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd05589	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd06636	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	268	cd05057	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	285	cd05103	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	334	cd05054	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	283	cd05102	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	219_G	cd07845	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	256	cd06614	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd07878	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	253	cd07851	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd07850	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	242	cd06639	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd07852	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	188	smart00750	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06648	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	347	cd05107	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	806	smart00220	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd08221	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05577	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd05608	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	746	cd05579	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd05115	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	814	cd05123	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05047	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	272	cd05572	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	688	cd00180	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	195	cd05585	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd06917	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	219	cd06634	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	235	cd07877	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	221	cd05089	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd05061	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd05073	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05070	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05067	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd05068	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd05082	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd05034	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd05083	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd05039	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd05148	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd05072	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06637	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd05036	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	224	cd05062	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	269	cd05032	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd07858	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	242	cd05056	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd05052	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd07849	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd07864	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd07870	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05071	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05069	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd06638	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	239	cd05099	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	256	cd05053	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	240	cd05100	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd06659	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd06658	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd07880	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	242	cd05101	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd06624	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06656	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06655	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd06607	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06647	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd08223	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06628	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	247	cd05122	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd07836	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd07863	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd07860	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd05615	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	349	cd06606	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	249	cd06626	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd08225	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	232	cd05045	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	337	cd07834	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd07857	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	215	cd07859	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	272	cd08215	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05614	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd06651	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd08222	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd08218	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	233	cd07854	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	210	cd08530	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd06627	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261	cd07841	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd07853	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06629	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209_G	cd05583	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd05613	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd08528	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd06646	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd06645	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd06635	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06657	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd06625	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd07839	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	236	cd06652	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd08224	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd06653	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	250	cd05043	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd07871	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd05630	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd05632	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd05605	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd05081	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	257	cd07865	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd06643	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd06611	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd06644	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd06618	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd06631	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05584	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd06630	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd06632	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd07844	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd06640	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd06641	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	211	cd06613	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd06642	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	255	cd06608	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	219	cd06654	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	345	cd05105	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	267	cd07866	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05110	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05111	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd05112	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd05059	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	205	cd05113	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd05114	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd05088	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05033	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05065	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	255	cd05038	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	215	cd05079	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd05066	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05108	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd06616	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05109	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	209	cd07831	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	232	cd07848	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	275	cd08217	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	284	cd07833	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	453	cd05581	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	361	cd07842	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	205	cd07846	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	302	cd07840	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261	cd06623	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	233	cd06609	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd06621	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd06605	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd06615	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd07856	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd07862	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	210	cd07847	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	206	cd07861	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd08229	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	202	cd08219	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd07872	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd05616	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd05587	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	cd07873	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd06610	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	265	cd05580	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207_G	cd08529	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd08228	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd06617	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	242	cd07832	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd06622	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd06619	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd07837	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	939	COG0515	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd05612	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	251	cd07843	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	329	cd05104	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	229	cd05091	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	232	cd05048	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	229	cd05090	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	237	cd05049	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd05092	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	273	cd05096	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	237	cd05097	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	291	cd05046	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	276	cd05051	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	247	cd05095	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	238	cd05050	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd06620	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd05064	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05063	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	235	cd05094	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd05093	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	344	cd05055	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd05041	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd05087	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd05042	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd05040	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05085	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	199	cd05084	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd05044	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd05076	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd05078	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	236	cd05037	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	444	cd00192	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd05077	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05602	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd07835	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05588	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	201	cd05116	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	208	cd05060	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd05582	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05590	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05619	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	200	cd05570	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd05620	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd05086	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd05058	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	197	cd05593	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05591	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05603	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd08220	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05592	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05571	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	cd05617	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	235	cd05118	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	198	cd05594	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	327	cd05106	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	245	cd05098	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd05578	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	267	cd07838	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	872	smart00221	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd05080	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	613	smart00219	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	366	pfam00069	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	298	cd07830	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd06612	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	415	pfam07714	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	258	cd07829	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	232	cd05075	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd05074	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd05035	105990522,NP_075598
2260	120046	Disease	p.Gly703Ser	VAR_031004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031004	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	203	cd05589	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	245	cd06636	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	284	cd05057	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	302	cd05103	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	351	cd05054	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	300	cd05102	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	233	cd07845	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	274	cd06614	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	240	cd07878	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	268	cd07851	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	255	cd07850	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	260	cd06639	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	277	cd07852	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	204	smart00750	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	237	cd06648	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	364	cd05107	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	911	smart00220	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd08221	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd05577	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05608	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	777	cd05579	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd05115	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	841	cd05123	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd05047	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	298	cd05572	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	822	cd00180	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	212	cd05585	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	236	cd06917	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	235	cd06634	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	251	cd07877	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	237	cd05089	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	241	cd05061	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd05073	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd05070	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05067	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd05068	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd05082	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	233	cd05034	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd05083	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd05039	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	258	cd05148	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd05072	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	235	cd06637	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	243	cd05036	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	240	cd05062	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	286	cd05032	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	234	cd07858	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	258	cd05056	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	224	cd05052	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	250	cd07849	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	236	cd07864	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	221	cd07870	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd05071	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd05069	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	249	cd06638	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	255	cd05099	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	272	cd05053	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	256	cd05100	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	236	cd06659	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	244	cd06658	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	245	cd07880	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	258	cd05101	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	236	cd06624	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	235	cd06656	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	235	cd06655	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	229_G	cd06607	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	235	cd06647	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd08223	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	235	cd06628	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	310	cd05122	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd07836	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd07863	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd07860	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd05615	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	377	cd06606	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	266	cd06626	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd08225	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05045	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	370	cd07834	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	234	cd07857	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	237	cd07859	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	292	cd08215	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd05614	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd06651	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	224	cd08222	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	219	cd08218	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	253	cd07854	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd08530	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	265	cd06627	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	282	cd07841	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd07853	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	239	cd06629	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd05583	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	238	cd05613	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	249	cd08528	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd06646	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd06645	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	243	cd06635	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	236	cd06657	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	229	cd06625	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd07839	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	252	cd06652	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd08224	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd06653	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	266	cd05043	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd07871	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd05630	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd05632	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd05605	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	245	cd05081	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	274	cd07865	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd06643	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd06611	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	235	cd06644	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	244	cd06618	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd06631	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	221	cd05584	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd06630	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd06632	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd07844	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd06640	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd06641	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd06613	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd06642	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	273	cd06608	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	236	cd06654	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	362	cd05105	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	301	cd07866	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd05110	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd05111	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd05112	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd05059	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	221	cd05113	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd05114	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	242	cd05088	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	264	cd05033	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd05065	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	285	cd05038	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	245	cd05079	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd05066	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd05108	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	241	cd06616	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd05109	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd07831	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	249	cd07848	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	292	cd08217	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	333	cd07833	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	469_G	cd05581	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	389	cd07842	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	269	cd07846	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	328	cd07840	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	293	cd06623	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	251	cd06609	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	237	cd06621	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	291	cd06605	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	245	cd06615	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd07856	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd07862	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd07847	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	219	cd07861	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd08229	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd08219	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd07872	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd05616	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd05587	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd07873	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd06610	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	283	cd05580	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd08529	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd08228	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd06617	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	274	cd07832	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd06622	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	249	cd06619	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	236	cd07837	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	1108	COG0515	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	242	cd05612	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	276	cd07843	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	346	cd05104	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	245	cd05091	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05048	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	245	cd05090	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	256	cd05049	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	243	cd05092	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	296	cd05096	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	260	cd05097	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	308	cd05046	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	315	cd05051	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	270	cd05095	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	254	cd05050	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	289	cd06620	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd05064	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd05063	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	304	cd05094	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	241	cd05093	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	361	cd05055	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd05041	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	235	cd05087	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	234	cd05042	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	234	cd05040	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05085	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	215	cd05084	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	238	cd05044	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	241	cd05076	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	224	cd05078	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	255	cd05037	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	478	cd00192	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd05077	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05602	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	244	cd07835	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd05588	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd05116	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	224	cd05060	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	215	cd05582	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05590	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	210	cd05619	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	224	cd05570	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd05620	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd05086	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd05058	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd05593	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	214	cd05591	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd05603	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd08220	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd05592	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd05571	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd05617	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	258	cd05118	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	215	cd05594	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	344	cd05106	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261	cd05098	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	236	cd05578	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	292	cd07838	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	971	smart00221	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	243	cd05080	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	655	smart00219	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	387	pfam00069	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	348	cd07830	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	242	cd06612	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	445	pfam07714	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	292	cd07829	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05075	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	234	cd05074	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	244	cd05035	105990522,NP_075598
2260	120046	Disease	p.Met719Arg	VAR_017891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017891	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd05589	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	248	cd06636	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	287	cd05057	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	305	cd05103	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	354	cd05054	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	303	cd05102	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	243	cd07845	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	277	cd06614	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	243	cd07878	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	271	cd07851	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	261	cd07850	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	263	cd06639	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	280	cd07852	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	207	smart00750	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	240	cd06648	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	367	cd05107	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	968	smart00220	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	227	cd08221	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	226	cd05577	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	217	cd05608	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	780	cd05579	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	220	cd05115	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	844	cd05123	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd05047	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	301	cd05572	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	825	cd00180	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	213	cd05585	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	239	cd06917	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	238	cd06634	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	254	cd07877	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	240	cd05089	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	244	cd05061	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	226	cd05073	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	225	cd05070	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	251	cd05067	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	231	cd05068	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	221	cd05082	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	236	cd05034	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	219	cd05083	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	228	cd05039	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	261	cd05148	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	226	cd05072	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	238	cd06637	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	246	cd05036	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	243	cd05062	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	289	cd05032	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	237	cd07858	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	261	cd05056	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	227	cd05052	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	253	cd07849	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	239	cd07864	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	224	cd07870	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	225	cd05071	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	225	cd05069	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	252	cd06638	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	258	cd05099	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	275	cd05053	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	259	cd05100	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	239	cd06659	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	247	cd06658	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	248	cd07880	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	261	cd05101	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	239	cd06624	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	238	cd06656	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	238	cd06655	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	232	cd06607	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	238	cd06647	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	223	cd08223	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	238	cd06628	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	313	cd05122	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	223	cd07836	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	229	cd07863	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	220	cd07860	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	221	cd05615	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	380	cd06606	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	269	cd06626	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	223	cd08225	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	251	cd05045	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	373	cd07834	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	237	cd07857	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	240	cd07859	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	295	cd08215	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	231	cd05614	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	231	cd06651	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	227	cd08222	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	222	cd08218	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	265_G	cd07854	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	229	cd08530	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	268	cd06627	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	285	cd07841	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd07853	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	242	cd06629	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	229	cd05583	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	241	cd05613	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	251_G	cd08528	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	231	cd06646	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	231	cd06645	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	246	cd06635	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	239	cd06657	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	232	cd06625	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	231	cd07839	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	255	cd06652	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	229	cd08224	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	231	cd06653	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	269	cd05043	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	229	cd07871	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	228	cd05630	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	225_G	cd05632	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	225	cd05605	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	248	cd05081	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	277	cd07865	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	231	cd06643	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd06611	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	238	cd06644	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	247	cd06618	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd06631	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	224	cd05584	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	231	cd06630	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	249	cd06632	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	225	cd07844	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	222_G	cd06640	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	222_G	cd06641	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	234	cd06613	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	222_G	cd06642	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	276	cd06608	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	239	cd06654	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	365	cd05105	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	304	cd07866	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd05110	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd05111	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	223	cd05112	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	225	cd05059	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	224	cd05113	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	223	cd05114	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	245	cd05088	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	267	cd05033	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd05065	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	288	cd05038	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	248	cd05079	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	231	cd05066	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd05108	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	244	cd06616	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd05109	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	226	cd07831	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	250	cd07848	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	295	cd08217	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	336	cd07833	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	469_G	cd05581	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	393	cd07842	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	272	cd07846	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	331	cd07840	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	296	cd06623	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	254	cd06609	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	241	cd06621	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	294	cd06605	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	269	cd06615	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	229	cd07856	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	231	cd07862	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	232	cd07847	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	222	cd07861	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	226	cd08229	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	221	cd08219	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	230	cd07872	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	221	cd05616	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	226	cd05587	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	230	cd07873	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	249	cd06610	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	286	cd05580	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	230	cd08529	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	226	cd08228	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	230	cd06617	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	279	cd07832	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	249	cd06622	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	252	cd06619	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	239	cd07837	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	1111	COG0515	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	245	cd05612	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	279	cd07843	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	349	cd05104	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	248	cd05091	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	251	cd05048	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	248	cd05090	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	259	cd05049	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	246	cd05092	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	299	cd05096	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	263	cd05097	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	311	cd05046	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	318	cd05051	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	273	cd05095	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	257	cd05050	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	290	cd06620	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	231	cd05064	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd05063	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	307	cd05094	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	244	cd05093	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	364	cd05055	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	220	cd05041	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	238	cd05087	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	237	cd05042	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	237	cd05040	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	217	cd05085	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	218	cd05084	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	241	cd05044	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	244	cd05076	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	227	cd05078	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	258	cd05037	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	481	cd00192	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	231	cd05077	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	217	cd05602	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	247	cd07835	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	225	cd05588	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	220	cd05116	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	227	cd05060	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	218	cd05582	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	216	cd05590	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	213	cd05619	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	227	cd05570	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	228	cd05620	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd05086	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	231	cd05058	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	234	cd05593	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	216	cd05591	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	223	cd05603	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	231	cd08220	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	232	cd05592	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	216	cd05571	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	223	cd05617	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	265	cd05118	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	216	cd05594	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	347	cd05106	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	264	cd05098	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	239	cd05578	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	301	cd07838	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	974	smart00221	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	246	cd05080	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	658	smart00219	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	390	pfam00069	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	357	cd07830	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	245	cd06612	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	449	pfam07714	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	295	cd07829	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	251	cd05075	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	237	cd05074	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	247	cd05035	105990522,NP_075598
2260	120046	Disease	p.Pro722His	VAR_031005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031005	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	221	cd05589	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd06636	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	287	cd05057	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	305	cd05103	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	354	cd05054	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	303	cd05102	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	243	cd07845	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	277	cd06614	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	243	cd07878	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	271	cd07851	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261	cd07850	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	263	cd06639	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	280	cd07852	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	207	smart00750	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	240	cd06648	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	367	cd05107	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	968	smart00220	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd08221	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd05577	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd05608	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	780	cd05579	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd05115	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	844	cd05123	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	233	cd05047	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	301	cd05572	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	825	cd00180	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd05585	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	239	cd06917	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	238	cd06634	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	254	cd07877	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	240	cd05089	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	244	cd05061	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd05073	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd05070	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	251	cd05067	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd05068	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	221	cd05082	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	236	cd05034	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	219	cd05083	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd05039	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261	cd05148	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd05072	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	238	cd06637	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd05036	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	243	cd05062	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	289	cd05032	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	237	cd07858	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261	cd05056	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd05052	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	253	cd07849	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	239	cd07864	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	224	cd07870	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd05071	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd05069	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	252	cd06638	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	258	cd05099	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	275	cd05053	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	259	cd05100	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	239	cd06659	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	247	cd06658	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd07880	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261	cd05101	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	239	cd06624	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	238	cd06656	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	238	cd06655	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	232	cd06607	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	238	cd06647	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd08223	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	238	cd06628	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	313	cd05122	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd07836	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	229	cd07863	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd07860	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	221	cd05615	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	380	cd06606	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	269	cd06626	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd08225	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	251	cd05045	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	373	cd07834	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	237	cd07857	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	240	cd07859	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	295	cd08215	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd05614	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd06651	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd08222	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd08218	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	265_G	cd07854	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	229	cd08530	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	268	cd06627	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	285	cd07841	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	233	cd07853	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	242	cd06629	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	229	cd05583	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	241	cd05613	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	251_G	cd08528	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd06646	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd06645	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd06635	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	239	cd06657	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	232	cd06625	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd07839	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	255	cd06652	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	229	cd08224	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd06653	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	269	cd05043	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	229	cd07871	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd05630	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225_G	cd05632	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd05605	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05081	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	277	cd07865	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd06643	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	233	cd06611	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	238	cd06644	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	247	cd06618	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	233	cd06631	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	224	cd05584	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd06630	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	249	cd06632	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd07844	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222_G	cd06640	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222_G	cd06641	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	234	cd06613	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222_G	cd06642	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	276	cd06608	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	239	cd06654	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	365	cd05105	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	304	cd07866	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	233	cd05110	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	233	cd05111	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd05112	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd05059	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	224	cd05113	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd05114	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	245	cd05088	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	267	cd05033	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	233	cd05065	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	288	cd05038	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05079	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd05066	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	233	cd05108	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	244	cd06616	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	233	cd05109	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd07831	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	250	cd07848	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	295	cd08217	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	336	cd07833	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	469_G	cd05581	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	393	cd07842	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	272	cd07846	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	331	cd07840	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	296	cd06623	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	254	cd06609	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	241	cd06621	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	294	cd06605	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	269	cd06615	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	229	cd07856	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd07862	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	232	cd07847	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	222	cd07861	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd08229	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	221	cd08219	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd07872	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	221	cd05616	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd05587	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd07873	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	249	cd06610	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	286	cd05580	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd08529	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	226	cd08228	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	230	cd06617	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	279	cd07832	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	249	cd06622	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	252	cd06619	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	239	cd07837	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	1111	COG0515	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	245	cd05612	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	279	cd07843	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	349	cd05104	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05091	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	251	cd05048	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05090	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	259	cd05049	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd05092	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	299	cd05096	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	263	cd05097	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	311	cd05046	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	318	cd05051	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	273	cd05095	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	257	cd05050	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	290	cd06620	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd05064	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	233	cd05063	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	307	cd05094	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	244	cd05093	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	364	cd05055	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd05041	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	238	cd05087	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	237	cd05042	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	237	cd05040	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd05085	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd05084	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	241	cd05044	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	244	cd05076	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd05078	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	258	cd05037	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	481	cd00192	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd05077	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	217	cd05602	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	247	cd07835	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	225	cd05588	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	220	cd05116	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd05060	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	218	cd05582	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd05590	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	213	cd05619	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	227	cd05570	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	228	cd05620	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	233	cd05086	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd05058	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	234	cd05593	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd05591	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd05603	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	231	cd08220	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	232	cd05592	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd05571	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	223	cd05617	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	265	cd05118	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	216	cd05594	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	347	cd05106	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	264	cd05098	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	239	cd05578	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	301	cd07838	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	974	smart00221	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd05080	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	658	smart00219	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	390	pfam00069	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	357	cd07830	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	245	cd06612	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	449	pfam07714	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	295	cd07829	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	251	cd05075	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	237	cd05074	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	247	cd05035	105990522,NP_075598
2260	120046	Disease	p.Pro722Ser	VAR_031006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031006	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	221	cd05589	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	250	cd06636	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	289	cd05057	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	307	cd05103	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	356	cd05054	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	305	cd05102	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	245	cd07845	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	279	cd06614	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	245	cd07878	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	273	cd07851	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	263	cd07850	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	265	cd06639	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	282	cd07852	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	208_G	smart00750	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	242	cd06648	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	369	cd05107	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	993	smart00220	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	229	cd08221	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	228	cd05577	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	219	cd05608	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	782	cd05579	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	222	cd05115	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	846	cd05123	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	235	cd05047	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	303	cd05572	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	827	cd00180	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	215	cd05585	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	241	cd06917	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	240	cd06634	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	256	cd07877	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	242	cd05089	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	246	cd05061	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	228	cd05073	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	227	cd05070	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	253	cd05067	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd05068	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	223	cd05082	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	238	cd05034	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	221	cd05083	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	230	cd05039	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	263	cd05148	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	228	cd05072	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	240	cd06637	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	248	cd05036	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	245	cd05062	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	291	cd05032	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	246	cd07858	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	263	cd05056	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	229	cd05052	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	255	cd07849	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	241	cd07864	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	224_G	cd07870	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	227	cd05071	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	227	cd05069	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	254	cd06638	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	260	cd05099	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	277	cd05053	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	261	cd05100	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	241	cd06659	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	249	cd06658	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	250	cd07880	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	263	cd05101	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	241	cd06624	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	240	cd06656	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	240	cd06655	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	234	cd06607	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	240	cd06647	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	225	cd08223	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	240	cd06628	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	315	cd05122	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	225	cd07836	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	231	cd07863	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	222	cd07860	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	223	cd05615	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	382	cd06606	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	271	cd06626	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	225	cd08225	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	253	cd05045	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	375	cd07834	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	237_G	cd07857	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	242	cd07859	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	306	cd08215	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd05614	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd06651	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	229	cd08222	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	224	cd08218	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	267	cd07854	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	232	cd08530	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	270	cd06627	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	305	cd07841	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	235	cd07853	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	244	cd06629	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	231	cd05583	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	243	cd05613	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	251_G	cd08528	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd06646	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd06645	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	248	cd06635	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	241	cd06657	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	234	cd06625	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd07839	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	257	cd06652	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	231	cd08224	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd06653	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	271	cd05043	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	231	cd07871	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	230	cd05630	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	227	cd05632	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	227	cd05605	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	250	cd05081	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	279	cd07865	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd06643	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	235	cd06611	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	240	cd06644	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	253	cd06618	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	235	cd06631	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	226	cd05584	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	232_G	cd06630	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	251	cd06632	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	227	cd07844	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	224	cd06640	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	224	cd06641	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	236	cd06613	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	224	cd06642	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	278	cd06608	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	241	cd06654	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	367	cd05105	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	306	cd07866	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	235	cd05110	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	235	cd05111	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	225	cd05112	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	227	cd05059	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	226	cd05113	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	225	cd05114	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	247	cd05088	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	269	cd05033	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	235	cd05065	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	290	cd05038	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	250	cd05079	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd05066	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	235	cd05108	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	246	cd06616	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	235	cd05109	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	228	cd07831	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	252	cd07848	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	297	cd08217	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	338	cd07833	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	470	cd05581	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	406	cd07842	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	274	cd07846	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	352	cd07840	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	298	cd06623	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	256	cd06609	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	246	cd06621	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	300	cd06605	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	271	cd06615	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	231	cd07856	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd07862	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	234	cd07847	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	224	cd07861	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	232	cd08229	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	223	cd08219	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	232	cd07872	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	223	cd05616	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	228	cd05587	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	232	cd07873	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	260	cd06610	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	288	cd05580	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd08529	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	228	cd08228	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	232	cd06617	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	281	cd07832	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	251	cd06622	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	254	cd06619	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	241	cd07837	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	1138	COG0515	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	247	cd05612	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	281	cd07843	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	351	cd05104	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	250	cd05091	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	253	cd05048	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	250	cd05090	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	261	cd05049	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	248	cd05092	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	301	cd05096	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	265	cd05097	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	313	cd05046	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	320	cd05051	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	275	cd05095	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	259	cd05050	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	292	cd06620	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd05064	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	235	cd05063	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	309	cd05094	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	246	cd05093	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	366	cd05055	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	222	cd05041	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	243	cd05087	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	238	cd05042	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	239	cd05040	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	219	cd05085	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	220	cd05084	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	243	cd05044	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	245_G	cd05076	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	229	cd05078	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	260	cd05037	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	483	cd00192	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	232_G	cd05077	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	218	cd05602	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	249	cd07835	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	227	cd05588	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	222	cd05116	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	229	cd05060	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	220	cd05582	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	218	cd05590	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	215	cd05619	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	229	cd05570	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	229	cd05620	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	238	cd05086	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd05058	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	236	cd05593	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	218	cd05591	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	225	cd05603	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	233	cd08220	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	234	cd05592	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	218	cd05571	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	225	cd05617	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	267	cd05118	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	218	cd05594	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	349	cd05106	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	266	cd05098	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	241	cd05578	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	303	cd07838	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	976	smart00221	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	248	cd05080	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	660	smart00219	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	392	pfam00069	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	359	cd07830	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	247	cd06612	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	451	pfam07714	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	299	cd07829	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	253	cd05075	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	239	cd05074	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	249	cd05035	105990522,NP_075598
2260	120046	Disease	p.Asn724Lys	VAR_031007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031007	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	223	cd05589	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	271	cd06636	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	310	cd05057	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	328	cd05103	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	377	cd05054	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	326	cd05102	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	266	cd07845	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	300	cd06614	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	272	cd07878	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	297	cd07851	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	284	cd07850	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	286	cd06639	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	307	cd07852	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	277	smart00750	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	263	cd06648	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	390	cd05107	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	1203	smart00220	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	258	cd08221	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	249	cd05577	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	244	cd05608	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	813	cd05579	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	243	cd05115	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	913	cd05123	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	256	cd05047	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	340	cd05572	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	852	cd00180	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	236	cd05585	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	262	cd06917	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261	cd06634	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	277	cd07877	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	263	cd05089	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	267	cd05061	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	249	cd05073	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05070	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	274	cd05067	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	254	cd05068	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	244	cd05082	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261	cd05034	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	242	cd05083	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	252	cd05039	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	284	cd05148	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	249	cd05072	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261	cd06637	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	269	cd05036	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	266	cd05062	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	315	cd05032	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	267	cd07858	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	285	cd05056	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	250	cd05052	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	272_G	cd07849	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	262	cd07864	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	244	cd07870	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05071	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05069	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	275	cd06638	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	281	cd05099	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	298	cd05053	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	282	cd05100	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	263	cd06659	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	264	cd06658	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	272	cd07880	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	284	cd05101	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	262	cd06624	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261	cd06656	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261	cd06655	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	265	cd06607	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261	cd06647	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd08223	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261	cd06628	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	343	cd05122	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd07836	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	252	cd07863	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	239_G	cd07860	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	244	cd05615	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	419	cd06606	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	297	cd06626	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd08225	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	274	cd05045	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	450	cd07834	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	256	cd07857	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	266	cd07859	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	327	cd08215	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	254	cd05614	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	253	cd06651	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	250	cd08222	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	245	cd08218	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	293	cd07854	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	253	cd08530	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	292	cd06627	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	326	cd07841	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	262	cd07853	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	266	cd06629	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	252	cd05583	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	264	cd05613	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	268	cd08528	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	257	cd06646	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	257	cd06645	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	269	cd06635	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	262	cd06657	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	255	cd06625	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	257	cd07839	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	277	cd06652	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	255	cd08224	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	254	cd06653	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	292	cd05043	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	253	cd07871	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	253	cd05630	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05632	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05605	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	271	cd05081	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	310	cd07865	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	254	cd06643	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	256	cd06611	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261	cd06644	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	274	cd06618	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	256	cd06631	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246_G	cd05584	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	257	cd06630	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	272	cd06632	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	249	cd07844	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	245	cd06640	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	245	cd06641	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	257	cd06613	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	245	cd06642	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	299	cd06608	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	262	cd06654	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	388	cd05105	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	342	cd07866	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	256	cd05110	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	256	cd05111	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd05112	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05059	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	247	cd05113	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd05114	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	268	cd05088	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	290	cd05033	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	256	cd05065	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	317	cd05038	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	271	cd05079	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	254	cd05066	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	256	cd05108	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	271	cd06616	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	256	cd05109	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	254	cd07831	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	271_G	cd07848	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	318	cd08217	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	360	cd07833	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	519	cd05581	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	427	cd07842	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	296	cd07846	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	375	cd07840	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	330	cd06623	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	284	cd06609	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	267	cd06621	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	330	cd06605	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	294	cd06615	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	255_G	cd07856	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	251_G	cd07862	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	255	cd07847	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd07861	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	253	cd08229	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	244	cd08219	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd07872	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	244	cd05616	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	249	cd05587	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261	cd07873	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	281	cd06610	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	361	cd05580	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	254	cd08529	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	253	cd08228	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	258	cd06617	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	314	cd07832	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	273	cd06622	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	275	cd06619	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261	cd07837	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	1174	COG0515	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	274	cd05612	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	329	cd07843	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	372	cd05104	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	271	cd05091	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	274	cd05048	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	271	cd05090	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	282	cd05049	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	269	cd05092	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	322	cd05096	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	286	cd05097	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	334	cd05046	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	341	cd05051	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	297	cd05095	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	280	cd05050	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	316	cd06620	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	254	cd05064	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	256	cd05063	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	330	cd05094	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	267	cd05093	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	387	cd05055	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	243	cd05041	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	263	cd05087	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	262	cd05042	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	260	cd05040	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	240	cd05085	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	241	cd05084	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	264	cd05044	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	265	cd05076	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	250	cd05078	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	285	cd05037	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	511	cd00192	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	252	cd05077	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	239	cd05602	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	270	cd07835	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	248	cd05588	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	243	cd05116	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	250	cd05060	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	242	cd05582	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	239	cd05590	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	235	cd05619	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	287	cd05570	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	250	cd05620	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	258	cd05086	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	254	cd05058	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	262	cd05593	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	241	cd05591	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd05603	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	254	cd08220	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	255	cd05592	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	238_G	cd05571	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	246	cd05617	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	300	cd05118	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	252	cd05594	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	370	cd05106	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	287	cd05098	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	272	cd05578	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	344	cd07838	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	1072	smart00221	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	269	cd05080	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	691	smart00219	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	458	pfam00069	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	385	cd07830	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	268	cd06612	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	473	pfam07714	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	336	cd07829	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	274	cd05075	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	260	cd05074	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	271	cd05035	105990522,NP_075598
2260	120046	Disease	p.Pro745Ser	VAR_031008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031008	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	245	cd05589	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	295	cd07845	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	304	cd07878	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	336	cd07851	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	327	cd07850	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	339	cd07852	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	277_G	cd05577	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	271	cd05608	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261_G	cd05585	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	294	cd06634	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	317	cd07877	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	287_G	cd05089	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	295	cd07858	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	302_G	cd07849	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	288	cd07864	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	273_G	cd07870	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	307	cd05099	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	309	cd05100	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	285	cd06659	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	296	cd07880	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	277	cd06656	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	277	cd06655	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	298	cd06607	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	277	cd06647	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	274	cd07836	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	270	cd07863	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	263	cd07860	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	271	cd05615	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	509	cd07834	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	284	cd07857	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	293	cd07859	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	281	cd05614	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	332	cd07854	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	325	cd07853	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	281	cd05583	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	294_G	cd05613	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	314	cd06635	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	280	cd07871	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	276_G	cd05630	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	275	cd05632	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	287	cd05605	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	330_G	cd07865	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	280	cd06643	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	287	cd06644	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	317	cd06618	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	272	cd05584	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	276	cd07844	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	269	cd06640	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	269	cd06641	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	272	cd06642	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	278	cd06654	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	280_G	cd05110	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	292_G	cd05088	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	281	cd05108	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	279	cd07831	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	295	cd07848	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	310	cd06609	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	286	cd07856	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	270	cd07862	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	280_G	cd07847	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	272	cd07861	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	268	cd07872	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	271	cd05616	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	277	cd05587	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	291_G	cd07873	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	287	cd06617	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	298	cd06622	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	300	cd06619	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	281	cd07837	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	1210	COG0515	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	278	cd05602	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	295	cd07835	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	277	cd05588	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	267_G	cd05582	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	266	cd05590	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	261_G	cd05619	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	276_G	cd05620	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	289	cd05593	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	268_G	cd05591	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	289	cd05603	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	281_G	cd05592	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	264	cd05571	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	272	cd05617	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	290	cd05594	105990522,NP_075598
2260	120046	Disease	p.Pro772Ser	VAR_017892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017892	rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	272	cd05589	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	315	cd07845	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	327	cd07878	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	371	cd07851	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	351	cd07850	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	284	cd05585	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	340	cd07877	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	319	cd07858	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	325	cd07849	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	305	cd07864	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	294	cd07870	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	331	cd05100	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	319	cd07880	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	294	cd07836	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	290	cd07863	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	283	cd07860	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	292	cd05615	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	325	cd07857	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	321	cd07859	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	303	cd05614	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	362	cd07854	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	351	cd07853	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	353	cd07865	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	296	cd05584	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	296	cd07844	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	293	cd05110	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	308	cd05108	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	299	cd07831	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	315	cd07848	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	310	cd07856	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	294	cd07862	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	303	cd07847	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	292	cd07861	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	284	cd07872	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	293	cd05616	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	301	cd05587	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	317	cd06622	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	301	cd07837	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	1346	COG0515	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	315	cd05602	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	315	cd07835	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	301	cd05588	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	290	cd05582	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	290	cd05590	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	280	cd05619	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	295	cd05620	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	319	cd05593	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	291	cd05591	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	315	cd05603	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	304	cd05592	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	288	cd05571	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	296	cd05617	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	313	cd05594	105990522,NP_075598
2260	120046	Disease	p.Val795Ile	VAR_031010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031010	- Kallmann syndrome type 2 (KAL2) [MIM:147950]	SWISS	295	cd05589	105990522,NP_075598
2263	120049	Disease	p.Tyr105Cys	VAR_004112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004112	- Crouzon syndrome (CS) [MIM:123500]	SWISS	123	cd00096	221316639,NP_000132
2263	120049	Disease	p.Tyr105Cys	VAR_004112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004112	- Crouzon syndrome (CS) [MIM:123500]	SWISS	60	cd04973	221316639,NP_000132
2263	120049	Disease	p.Tyr105Cys	VAR_004112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004112	- Crouzon syndrome (CS) [MIM:123500]	SWISS	198	smart00409	221316639,NP_000132
2263	120049	Disease	p.Tyr105Cys	VAR_004112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004112	- Crouzon syndrome (CS) [MIM:123500]	SWISS	198	smart00410	221316639,NP_000132
2263	120049	Disease	p.Tyr105Cys	VAR_004112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004112	- Crouzon syndrome (CS) [MIM:123500]	SWISS	118	smart00408	221316639,NP_000132
2263	120049	Disease	p.Ala172Phe	VAR_017259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017259	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	10	cd07693	221316639,NP_000132
2263	120049	Disease	p.Ala172Phe	VAR_017259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017259	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	15	cd05730	221316639,NP_000132
2263	120049	Disease	p.Ala172Phe	VAR_017259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017259	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	12	cd05728	221316639,NP_000132
2263	120049	Disease	p.Ala172Phe	VAR_017259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017259	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	14	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Ala172Phe	VAR_017259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017259	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	9	cd05857	221316639,NP_000132
2263	120049	Disease	p.Ala172Phe	VAR_017259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017259	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	9	cd05729	221316639,NP_000132
2263	120049	Disease	p.Ala172Phe	VAR_017259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017259	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	9	cd05856	221316639,NP_000132
2263	120049	Disease	p.Ala172Phe	VAR_017259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017259	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	11	smart00409	221316639,NP_000132
2263	120049	Disease	p.Ala172Phe	VAR_017259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017259	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	11	smart00410	221316639,NP_000132
2263	120049	Disease	p.Ala172Phe	VAR_017259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017259	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	2	smart00408	221316639,NP_000132
2263	120049	Disease	p.Ala172Phe	VAR_017259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017259	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	2	cd05745	221316639,NP_000132
2263	120049	Disease	p.Ser252Phe	VAR_004114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004114	- Apert syndrome (APRS) [MIM:101200]	SWISS	No Domain	N/A	221316639,NP_000132
2263	120049	Disease	p.Ser252Leu	VAR_004113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004113	- Crouzon syndrome (CS) [MIM:123500]	SWISS	No Domain	N/A	221316639,NP_000132
2263	120049	Disease	p.Ser252Trp	VAR_004115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004115	- Apert syndrome (APRS) [MIM:101200]	SWISS	No Domain	N/A	221316639,NP_000132
2263	120049	Disease	p.Ser252Trp	VAR_004115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004115	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	No Domain	N/A	221316639,NP_000132
2263	120049	Disease	p.Pro253Arg	VAR_004117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004117	- Apert syndrome (APRS) [MIM:101200]	SWISS	No Domain	N/A	221316639,NP_000132
2263	120049	Disease	p.Pro263Leu	VAR_017261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017261	- Crouzon syndrome (CS) [MIM:123500]	SWISS	8	cd04968	221316639,NP_000132
2263	120049	Disease	p.Pro263Leu	VAR_017261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017261	- Crouzon syndrome (CS) [MIM:123500]	SWISS	7	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Ser267Pro	VAR_004118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004118	- Crouzon syndrome (CS) [MIM:123500]	SWISS	5	smart00409	221316639,NP_000132
2263	120049	Disease	p.Ser267Pro	VAR_004118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004118	- Crouzon syndrome (CS) [MIM:123500]	SWISS	5	smart00410	221316639,NP_000132
2263	120049	Disease	p.Ser267Pro	VAR_004118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004118	- Crouzon syndrome (CS) [MIM:123500]	SWISS	3	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Ser267Pro	VAR_004118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004118	- Crouzon syndrome (CS) [MIM:123500]	SWISS	12	cd04968	221316639,NP_000132
2263	120049	Disease	p.Ser267Pro	VAR_004118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004118	- Crouzon syndrome (CS) [MIM:123500]	SWISS	12	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Phe276Val	VAR_004120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004120	- Crouzon syndrome (CS) [MIM:123500]	SWISS	3	cd00096	221316639,NP_000132
2263	120049	Disease	p.Phe276Val	VAR_004120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004120	- Crouzon syndrome (CS) [MIM:123500]	SWISS	3	cd05725	221316639,NP_000132
2263	120049	Disease	p.Phe276Val	VAR_004120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004120	- Crouzon syndrome (CS) [MIM:123500]	SWISS	4	cd05723	221316639,NP_000132
2263	120049	Disease	p.Phe276Val	VAR_004120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004120	- Crouzon syndrome (CS) [MIM:123500]	SWISS	6	cd05765	221316639,NP_000132
2263	120049	Disease	p.Phe276Val	VAR_004120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004120	- Crouzon syndrome (CS) [MIM:123500]	SWISS	6	cd05858	221316639,NP_000132
2263	120049	Disease	p.Phe276Val	VAR_004120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004120	- Crouzon syndrome (CS) [MIM:123500]	SWISS	6	cd04974	221316639,NP_000132
2263	120049	Disease	p.Phe276Val	VAR_004120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004120	- Crouzon syndrome (CS) [MIM:123500]	SWISS	6	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Phe276Val	VAR_004120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004120	- Crouzon syndrome (CS) [MIM:123500]	SWISS	16	smart00409	221316639,NP_000132
2263	120049	Disease	p.Phe276Val	VAR_004120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004120	- Crouzon syndrome (CS) [MIM:123500]	SWISS	16	smart00410	221316639,NP_000132
2263	120049	Disease	p.Phe276Val	VAR_004120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004120	- Crouzon syndrome (CS) [MIM:123500]	SWISS	12	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Phe276Val	VAR_004120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004120	- Crouzon syndrome (CS) [MIM:123500]	SWISS	21	cd04968	221316639,NP_000132
2263	120049	Disease	p.Phe276Val	VAR_004120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004120	- Crouzon syndrome (CS) [MIM:123500]	SWISS	21	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Phe276Val	VAR_004120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004120	- Crouzon syndrome (CS) [MIM:123500]	SWISS	7	smart00408	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Crouzon syndrome (CS) [MIM:123500]	SWISS	5	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Crouzon syndrome (CS) [MIM:123500]	SWISS	5	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Crouzon syndrome (CS) [MIM:123500]	SWISS	6	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Crouzon syndrome (CS) [MIM:123500]	SWISS	8	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Crouzon syndrome (CS) [MIM:123500]	SWISS	8	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Crouzon syndrome (CS) [MIM:123500]	SWISS	8	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Crouzon syndrome (CS) [MIM:123500]	SWISS	8	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Crouzon syndrome (CS) [MIM:123500]	SWISS	18	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Crouzon syndrome (CS) [MIM:123500]	SWISS	18	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Crouzon syndrome (CS) [MIM:123500]	SWISS	14	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Crouzon syndrome (CS) [MIM:123500]	SWISS	23	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Crouzon syndrome (CS) [MIM:123500]	SWISS	23	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Crouzon syndrome (CS) [MIM:123500]	SWISS	9	smart00408	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	5	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	5	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	6	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	8	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	8	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	8	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	8	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	18	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	18	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	14	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	23	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	23	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	9	smart00408	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	5	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	5	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	6	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	8	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	8	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	8	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	8	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	18	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	18	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	14	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	23	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	23	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys278Phe	VAR_004121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004121	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	9	smart00408	221316639,NP_000132
2263	120049	Disease	p.Cys278Tyr	VAR_017263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017263	- Crouzon syndrome (CS) [MIM:123500]	SWISS	5	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys278Tyr	VAR_017263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017263	- Crouzon syndrome (CS) [MIM:123500]	SWISS	5	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys278Tyr	VAR_017263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017263	- Crouzon syndrome (CS) [MIM:123500]	SWISS	6	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys278Tyr	VAR_017263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017263	- Crouzon syndrome (CS) [MIM:123500]	SWISS	8	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys278Tyr	VAR_017263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017263	- Crouzon syndrome (CS) [MIM:123500]	SWISS	8	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys278Tyr	VAR_017263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017263	- Crouzon syndrome (CS) [MIM:123500]	SWISS	8	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys278Tyr	VAR_017263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017263	- Crouzon syndrome (CS) [MIM:123500]	SWISS	8	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys278Tyr	VAR_017263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017263	- Crouzon syndrome (CS) [MIM:123500]	SWISS	18	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys278Tyr	VAR_017263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017263	- Crouzon syndrome (CS) [MIM:123500]	SWISS	18	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys278Tyr	VAR_017263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017263	- Crouzon syndrome (CS) [MIM:123500]	SWISS	14	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys278Tyr	VAR_017263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017263	- Crouzon syndrome (CS) [MIM:123500]	SWISS	23	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys278Tyr	VAR_017263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017263	- Crouzon syndrome (CS) [MIM:123500]	SWISS	23	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys278Tyr	VAR_017263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017263	- Crouzon syndrome (CS) [MIM:123500]	SWISS	9	smart00408	221316639,NP_000132
2263	120049	Disease	p.Tyr281Cys	VAR_017264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017264	- Crouzon syndrome (CS) [MIM:123500]	SWISS	8	cd00096	221316639,NP_000132
2263	120049	Disease	p.Tyr281Cys	VAR_017264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017264	- Crouzon syndrome (CS) [MIM:123500]	SWISS	8	cd05725	221316639,NP_000132
2263	120049	Disease	p.Tyr281Cys	VAR_017264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017264	- Crouzon syndrome (CS) [MIM:123500]	SWISS	9	cd05723	221316639,NP_000132
2263	120049	Disease	p.Tyr281Cys	VAR_017264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017264	- Crouzon syndrome (CS) [MIM:123500]	SWISS	11	cd05765	221316639,NP_000132
2263	120049	Disease	p.Tyr281Cys	VAR_017264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017264	- Crouzon syndrome (CS) [MIM:123500]	SWISS	12	cd05858	221316639,NP_000132
2263	120049	Disease	p.Tyr281Cys	VAR_017264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017264	- Crouzon syndrome (CS) [MIM:123500]	SWISS	12	cd04974	221316639,NP_000132
2263	120049	Disease	p.Tyr281Cys	VAR_017264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017264	- Crouzon syndrome (CS) [MIM:123500]	SWISS	16	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Tyr281Cys	VAR_017264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017264	- Crouzon syndrome (CS) [MIM:123500]	SWISS	21	smart00409	221316639,NP_000132
2263	120049	Disease	p.Tyr281Cys	VAR_017264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017264	- Crouzon syndrome (CS) [MIM:123500]	SWISS	21	smart00410	221316639,NP_000132
2263	120049	Disease	p.Tyr281Cys	VAR_017264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017264	- Crouzon syndrome (CS) [MIM:123500]	SWISS	17	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Tyr281Cys	VAR_017264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017264	- Crouzon syndrome (CS) [MIM:123500]	SWISS	26	cd04968	221316639,NP_000132
2263	120049	Disease	p.Tyr281Cys	VAR_017264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017264	- Crouzon syndrome (CS) [MIM:123500]	SWISS	26	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Tyr281Cys	VAR_017264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017264	- Crouzon syndrome (CS) [MIM:123500]	SWISS	13	smart00408	221316639,NP_000132
2263	120049	Disease	p.Ile288Ser	VAR_017265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017265	- Crouzon syndrome (CS) [MIM:123500]	SWISS	29	cd00096	221316639,NP_000132
2263	120049	Disease	p.Ile288Ser	VAR_017265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017265	- Crouzon syndrome (CS) [MIM:123500]	SWISS	15	cd05725	221316639,NP_000132
2263	120049	Disease	p.Ile288Ser	VAR_017265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017265	- Crouzon syndrome (CS) [MIM:123500]	SWISS	16	cd05723	221316639,NP_000132
2263	120049	Disease	p.Ile288Ser	VAR_017265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017265	- Crouzon syndrome (CS) [MIM:123500]	SWISS	18	cd05765	221316639,NP_000132
2263	120049	Disease	p.Ile288Ser	VAR_017265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017265	- Crouzon syndrome (CS) [MIM:123500]	SWISS	19	cd05858	221316639,NP_000132
2263	120049	Disease	p.Ile288Ser	VAR_017265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017265	- Crouzon syndrome (CS) [MIM:123500]	SWISS	19	cd04974	221316639,NP_000132
2263	120049	Disease	p.Ile288Ser	VAR_017265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017265	- Crouzon syndrome (CS) [MIM:123500]	SWISS	23	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Ile288Ser	VAR_017265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017265	- Crouzon syndrome (CS) [MIM:123500]	SWISS	45	smart00409	221316639,NP_000132
2263	120049	Disease	p.Ile288Ser	VAR_017265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017265	- Crouzon syndrome (CS) [MIM:123500]	SWISS	45	smart00410	221316639,NP_000132
2263	120049	Disease	p.Ile288Ser	VAR_017265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017265	- Crouzon syndrome (CS) [MIM:123500]	SWISS	34	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Ile288Ser	VAR_017265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017265	- Crouzon syndrome (CS) [MIM:123500]	SWISS	33	cd04968	221316639,NP_000132
2263	120049	Disease	p.Ile288Ser	VAR_017265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017265	- Crouzon syndrome (CS) [MIM:123500]	SWISS	34	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Ile288Ser	VAR_017265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017265	- Crouzon syndrome (CS) [MIM:123500]	SWISS	20	smart00408	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Crouzon syndrome (CS) [MIM:123500]	SWISS	30	cd00096	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Crouzon syndrome (CS) [MIM:123500]	SWISS	16	cd05725	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Crouzon syndrome (CS) [MIM:123500]	SWISS	17	cd05723	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Crouzon syndrome (CS) [MIM:123500]	SWISS	19	cd05765	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Crouzon syndrome (CS) [MIM:123500]	SWISS	20	cd05858	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Crouzon syndrome (CS) [MIM:123500]	SWISS	20	cd04974	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Crouzon syndrome (CS) [MIM:123500]	SWISS	24	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Crouzon syndrome (CS) [MIM:123500]	SWISS	46	smart00409	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Crouzon syndrome (CS) [MIM:123500]	SWISS	46	smart00410	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Crouzon syndrome (CS) [MIM:123500]	SWISS	35	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Crouzon syndrome (CS) [MIM:123500]	SWISS	34	cd04968	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Crouzon syndrome (CS) [MIM:123500]	SWISS	35	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Crouzon syndrome (CS) [MIM:123500]	SWISS	21	smart00408	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	30	cd00096	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	16	cd05725	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	17	cd05723	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	19	cd05765	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	20	cd05858	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	20	cd04974	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	24	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	46	smart00409	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	46	smart00410	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	35	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	34	cd04968	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	35	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Gln289Pro	VAR_004123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004123	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	21	smart00408	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	VAR_004124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004124	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	31	cd00096	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	VAR_004124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004124	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	17	cd05725	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	VAR_004124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004124	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	18	cd05723	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	VAR_004124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004124	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	20	cd05765	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	VAR_004124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004124	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	21	cd05858	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	VAR_004124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004124	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	21	cd04974	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	VAR_004124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004124	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	25	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	VAR_004124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004124	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	48	smart00409	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	VAR_004124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004124	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	48	smart00410	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	VAR_004124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004124	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	36	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	VAR_004124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004124	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	35	cd04968	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	VAR_004124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004124	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	36	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Trp290Cys	VAR_004124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004124	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	22	smart00408	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	VAR_017266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017266	- Crouzon syndrome (CS) [MIM:123500]	SWISS	31	cd00096	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	VAR_017266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017266	- Crouzon syndrome (CS) [MIM:123500]	SWISS	17	cd05725	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	VAR_017266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017266	- Crouzon syndrome (CS) [MIM:123500]	SWISS	18	cd05723	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	VAR_017266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017266	- Crouzon syndrome (CS) [MIM:123500]	SWISS	20	cd05765	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	VAR_017266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017266	- Crouzon syndrome (CS) [MIM:123500]	SWISS	21	cd05858	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	VAR_017266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017266	- Crouzon syndrome (CS) [MIM:123500]	SWISS	21	cd04974	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	VAR_017266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017266	- Crouzon syndrome (CS) [MIM:123500]	SWISS	25	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	VAR_017266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017266	- Crouzon syndrome (CS) [MIM:123500]	SWISS	48	smart00409	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	VAR_017266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017266	- Crouzon syndrome (CS) [MIM:123500]	SWISS	48	smart00410	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	VAR_017266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017266	- Crouzon syndrome (CS) [MIM:123500]	SWISS	36	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	VAR_017266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017266	- Crouzon syndrome (CS) [MIM:123500]	SWISS	35	cd04968	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	VAR_017266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017266	- Crouzon syndrome (CS) [MIM:123500]	SWISS	36	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Trp290Gly	VAR_017266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017266	- Crouzon syndrome (CS) [MIM:123500]	SWISS	22	smart00408	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	VAR_004125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004125	- Crouzon syndrome (CS) [MIM:123500]	SWISS	31	cd00096	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	VAR_004125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004125	- Crouzon syndrome (CS) [MIM:123500]	SWISS	17	cd05725	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	VAR_004125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004125	- Crouzon syndrome (CS) [MIM:123500]	SWISS	18	cd05723	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	VAR_004125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004125	- Crouzon syndrome (CS) [MIM:123500]	SWISS	20	cd05765	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	VAR_004125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004125	- Crouzon syndrome (CS) [MIM:123500]	SWISS	21	cd05858	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	VAR_004125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004125	- Crouzon syndrome (CS) [MIM:123500]	SWISS	21	cd04974	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	VAR_004125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004125	- Crouzon syndrome (CS) [MIM:123500]	SWISS	25	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	VAR_004125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004125	- Crouzon syndrome (CS) [MIM:123500]	SWISS	48	smart00409	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	VAR_004125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004125	- Crouzon syndrome (CS) [MIM:123500]	SWISS	48	smart00410	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	VAR_004125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004125	- Crouzon syndrome (CS) [MIM:123500]	SWISS	36	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	VAR_004125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004125	- Crouzon syndrome (CS) [MIM:123500]	SWISS	35	cd04968	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	VAR_004125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004125	- Crouzon syndrome (CS) [MIM:123500]	SWISS	36	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Trp290Arg	VAR_004125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004125	- Crouzon syndrome (CS) [MIM:123500]	SWISS	22	smart00408	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	VAR_004126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004126	- Crouzon syndrome (CS) [MIM:123500]	SWISS	33	cd00096	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	VAR_004126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004126	- Crouzon syndrome (CS) [MIM:123500]	SWISS	19	cd05725	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	VAR_004126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004126	- Crouzon syndrome (CS) [MIM:123500]	SWISS	19_G	cd05723	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	VAR_004126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004126	- Crouzon syndrome (CS) [MIM:123500]	SWISS	22	cd05765	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	VAR_004126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004126	- Crouzon syndrome (CS) [MIM:123500]	SWISS	23	cd05858	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	VAR_004126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004126	- Crouzon syndrome (CS) [MIM:123500]	SWISS	23	cd04974	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	VAR_004126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004126	- Crouzon syndrome (CS) [MIM:123500]	SWISS	27	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	VAR_004126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004126	- Crouzon syndrome (CS) [MIM:123500]	SWISS	54	smart00409	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	VAR_004126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004126	- Crouzon syndrome (CS) [MIM:123500]	SWISS	54	smart00410	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	VAR_004126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004126	- Crouzon syndrome (CS) [MIM:123500]	SWISS	38	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	VAR_004126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004126	- Crouzon syndrome (CS) [MIM:123500]	SWISS	37	cd04968	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	VAR_004126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004126	- Crouzon syndrome (CS) [MIM:123500]	SWISS	37_G	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Lys292Glu	VAR_004126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004126	- Crouzon syndrome (CS) [MIM:123500]	SWISS	25	smart00408	221316639,NP_000132
2263	120049	Disease	p.Tyr301Cys	VAR_004127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004127	- Crouzon syndrome (CS) [MIM:123500]	SWISS	42	cd00096	221316639,NP_000132
2263	120049	Disease	p.Tyr301Cys	VAR_004127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004127	- Crouzon syndrome (CS) [MIM:123500]	SWISS	22_G	cd05725	221316639,NP_000132
2263	120049	Disease	p.Tyr301Cys	VAR_004127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004127	- Crouzon syndrome (CS) [MIM:123500]	SWISS	25	cd05723	221316639,NP_000132
2263	120049	Disease	p.Tyr301Cys	VAR_004127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004127	- Crouzon syndrome (CS) [MIM:123500]	SWISS	31	cd05765	221316639,NP_000132
2263	120049	Disease	p.Tyr301Cys	VAR_004127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004127	- Crouzon syndrome (CS) [MIM:123500]	SWISS	32	cd05858	221316639,NP_000132
2263	120049	Disease	p.Tyr301Cys	VAR_004127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004127	- Crouzon syndrome (CS) [MIM:123500]	SWISS	41	cd04974	221316639,NP_000132
2263	120049	Disease	p.Tyr301Cys	VAR_004127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004127	- Crouzon syndrome (CS) [MIM:123500]	SWISS	34	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Tyr301Cys	VAR_004127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004127	- Crouzon syndrome (CS) [MIM:123500]	SWISS	112	smart00409	221316639,NP_000132
2263	120049	Disease	p.Tyr301Cys	VAR_004127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004127	- Crouzon syndrome (CS) [MIM:123500]	SWISS	112	smart00410	221316639,NP_000132
2263	120049	Disease	p.Tyr301Cys	VAR_004127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004127	- Crouzon syndrome (CS) [MIM:123500]	SWISS	52	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Tyr301Cys	VAR_004127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004127	- Crouzon syndrome (CS) [MIM:123500]	SWISS	45_G	cd04968	221316639,NP_000132
2263	120049	Disease	p.Tyr301Cys	VAR_004127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004127	- Crouzon syndrome (CS) [MIM:123500]	SWISS	45	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Tyr301Cys	VAR_004127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004127	- Crouzon syndrome (CS) [MIM:123500]	SWISS	37	smart00408	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	VAR_004129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004129	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	88	cd00096	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	VAR_004129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004129	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	37	cd05725	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	VAR_004129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004129	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	36	cd05723	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	VAR_004129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004129	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	44	cd05765	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	VAR_004129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004129	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	52	cd05858	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	VAR_004129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004129	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	61	cd04974	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	VAR_004129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004129	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	68	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	VAR_004129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004129	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	169	smart00409	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	VAR_004129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004129	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	169	smart00410	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	VAR_004129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004129	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	90	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	VAR_004129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004129	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	54_G	cd04968	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	VAR_004129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004129	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	75	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Asp321Ala	VAR_004129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004129	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	91	smart00408	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	VAR_004130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004130	- Crouzon syndrome (CS) [MIM:123500]	SWISS	95	cd00096	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	VAR_004130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004130	- Crouzon syndrome (CS) [MIM:123500]	SWISS	41	cd05725	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	VAR_004130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004130	- Crouzon syndrome (CS) [MIM:123500]	SWISS	43	cd05723	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	VAR_004130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004130	- Crouzon syndrome (CS) [MIM:123500]	SWISS	51	cd05765	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	VAR_004130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004130	- Crouzon syndrome (CS) [MIM:123500]	SWISS	59	cd05858	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	VAR_004130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004130	- Crouzon syndrome (CS) [MIM:123500]	SWISS	68	cd04974	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	VAR_004130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004130	- Crouzon syndrome (CS) [MIM:123500]	SWISS	75	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	VAR_004130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004130	- Crouzon syndrome (CS) [MIM:123500]	SWISS	178	smart00409	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	VAR_004130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004130	- Crouzon syndrome (CS) [MIM:123500]	SWISS	178	smart00410	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	VAR_004130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004130	- Crouzon syndrome (CS) [MIM:123500]	SWISS	97	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	VAR_004130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004130	- Crouzon syndrome (CS) [MIM:123500]	SWISS	57	cd04968	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	VAR_004130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004130	- Crouzon syndrome (CS) [MIM:123500]	SWISS	81	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Tyr328Cys	VAR_004130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004130	- Crouzon syndrome (CS) [MIM:123500]	SWISS	105	smart00408	221316639,NP_000132
2263	120049	Disease	p.Asn331Ile	VAR_004131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004131	- Crouzon syndrome (CS) [MIM:123500]	SWISS	98	cd00096	221316639,NP_000132
2263	120049	Disease	p.Asn331Ile	VAR_004131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004131	- Crouzon syndrome (CS) [MIM:123500]	SWISS	44	cd05725	221316639,NP_000132
2263	120049	Disease	p.Asn331Ile	VAR_004131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004131	- Crouzon syndrome (CS) [MIM:123500]	SWISS	46	cd05723	221316639,NP_000132
2263	120049	Disease	p.Asn331Ile	VAR_004131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004131	- Crouzon syndrome (CS) [MIM:123500]	SWISS	54	cd05765	221316639,NP_000132
2263	120049	Disease	p.Asn331Ile	VAR_004131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004131	- Crouzon syndrome (CS) [MIM:123500]	SWISS	62	cd05858	221316639,NP_000132
2263	120049	Disease	p.Asn331Ile	VAR_004131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004131	- Crouzon syndrome (CS) [MIM:123500]	SWISS	71	cd04974	221316639,NP_000132
2263	120049	Disease	p.Asn331Ile	VAR_004131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004131	- Crouzon syndrome (CS) [MIM:123500]	SWISS	78	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Asn331Ile	VAR_004131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004131	- Crouzon syndrome (CS) [MIM:123500]	SWISS	181	smart00409	221316639,NP_000132
2263	120049	Disease	p.Asn331Ile	VAR_004131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004131	- Crouzon syndrome (CS) [MIM:123500]	SWISS	181	smart00410	221316639,NP_000132
2263	120049	Disease	p.Asn331Ile	VAR_004131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004131	- Crouzon syndrome (CS) [MIM:123500]	SWISS	100	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Asn331Ile	VAR_004131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004131	- Crouzon syndrome (CS) [MIM:123500]	SWISS	60	cd04968	221316639,NP_000132
2263	120049	Disease	p.Asn331Ile	VAR_004131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004131	- Crouzon syndrome (CS) [MIM:123500]	SWISS	84	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Asn331Ile	VAR_004131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004131	- Crouzon syndrome (CS) [MIM:123500]	SWISS	108	smart00408	221316639,NP_000132
2263	120049	Disease	p.Ala337Pro	VAR_017268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017268	- Crouzon syndrome (CS) [MIM:123500]	SWISS	120	cd00096	221316639,NP_000132
2263	120049	Disease	p.Ala337Pro	VAR_017268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017268	- Crouzon syndrome (CS) [MIM:123500]	SWISS	50	cd05725	221316639,NP_000132
2263	120049	Disease	p.Ala337Pro	VAR_017268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017268	- Crouzon syndrome (CS) [MIM:123500]	SWISS	52	cd05723	221316639,NP_000132
2263	120049	Disease	p.Ala337Pro	VAR_017268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017268	- Crouzon syndrome (CS) [MIM:123500]	SWISS	60	cd05765	221316639,NP_000132
2263	120049	Disease	p.Ala337Pro	VAR_017268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017268	- Crouzon syndrome (CS) [MIM:123500]	SWISS	68	cd05858	221316639,NP_000132
2263	120049	Disease	p.Ala337Pro	VAR_017268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017268	- Crouzon syndrome (CS) [MIM:123500]	SWISS	85	cd04974	221316639,NP_000132
2263	120049	Disease	p.Ala337Pro	VAR_017268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017268	- Crouzon syndrome (CS) [MIM:123500]	SWISS	85	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Ala337Pro	VAR_017268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017268	- Crouzon syndrome (CS) [MIM:123500]	SWISS	190	smart00409	221316639,NP_000132
2263	120049	Disease	p.Ala337Pro	VAR_017268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017268	- Crouzon syndrome (CS) [MIM:123500]	SWISS	190	smart00410	221316639,NP_000132
2263	120049	Disease	p.Ala337Pro	VAR_017268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017268	- Crouzon syndrome (CS) [MIM:123500]	SWISS	107	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Ala337Pro	VAR_017268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017268	- Crouzon syndrome (CS) [MIM:123500]	SWISS	66	cd04968	221316639,NP_000132
2263	120049	Disease	p.Ala337Pro	VAR_017268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017268	- Crouzon syndrome (CS) [MIM:123500]	SWISS	90	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Ala337Pro	VAR_017268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017268	- Crouzon syndrome (CS) [MIM:123500]	SWISS	115	smart00408	221316639,NP_000132
2263	120049	Disease	p.Gly338Glu	VAR_004133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004133	- Crouzon syndrome (CS) [MIM:123500]	SWISS	121	cd00096	221316639,NP_000132
2263	120049	Disease	p.Gly338Glu	VAR_004133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004133	- Crouzon syndrome (CS) [MIM:123500]	SWISS	51	cd05725	221316639,NP_000132
2263	120049	Disease	p.Gly338Glu	VAR_004133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004133	- Crouzon syndrome (CS) [MIM:123500]	SWISS	53	cd05723	221316639,NP_000132
2263	120049	Disease	p.Gly338Glu	VAR_004133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004133	- Crouzon syndrome (CS) [MIM:123500]	SWISS	61	cd05765	221316639,NP_000132
2263	120049	Disease	p.Gly338Glu	VAR_004133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004133	- Crouzon syndrome (CS) [MIM:123500]	SWISS	69	cd05858	221316639,NP_000132
2263	120049	Disease	p.Gly338Glu	VAR_004133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004133	- Crouzon syndrome (CS) [MIM:123500]	SWISS	86	cd04974	221316639,NP_000132
2263	120049	Disease	p.Gly338Glu	VAR_004133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004133	- Crouzon syndrome (CS) [MIM:123500]	SWISS	86	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Gly338Glu	VAR_004133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004133	- Crouzon syndrome (CS) [MIM:123500]	SWISS	196	smart00409	221316639,NP_000132
2263	120049	Disease	p.Gly338Glu	VAR_004133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004133	- Crouzon syndrome (CS) [MIM:123500]	SWISS	196	smart00410	221316639,NP_000132
2263	120049	Disease	p.Gly338Glu	VAR_004133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004133	- Crouzon syndrome (CS) [MIM:123500]	SWISS	108	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Gly338Glu	VAR_004133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004133	- Crouzon syndrome (CS) [MIM:123500]	SWISS	67	cd04968	221316639,NP_000132
2263	120049	Disease	p.Gly338Glu	VAR_004133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004133	- Crouzon syndrome (CS) [MIM:123500]	SWISS	91	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Gly338Glu	VAR_004133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004133	- Crouzon syndrome (CS) [MIM:123500]	SWISS	116	smart00408	221316639,NP_000132
2263	120049	Disease	p.Gly338Arg	VAR_015011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015011	- Crouzon syndrome (CS) [MIM:123500]	SWISS	121	cd00096	221316639,NP_000132
2263	120049	Disease	p.Gly338Arg	VAR_015011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015011	- Crouzon syndrome (CS) [MIM:123500]	SWISS	51	cd05725	221316639,NP_000132
2263	120049	Disease	p.Gly338Arg	VAR_015011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015011	- Crouzon syndrome (CS) [MIM:123500]	SWISS	53	cd05723	221316639,NP_000132
2263	120049	Disease	p.Gly338Arg	VAR_015011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015011	- Crouzon syndrome (CS) [MIM:123500]	SWISS	61	cd05765	221316639,NP_000132
2263	120049	Disease	p.Gly338Arg	VAR_015011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015011	- Crouzon syndrome (CS) [MIM:123500]	SWISS	69	cd05858	221316639,NP_000132
2263	120049	Disease	p.Gly338Arg	VAR_015011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015011	- Crouzon syndrome (CS) [MIM:123500]	SWISS	86	cd04974	221316639,NP_000132
2263	120049	Disease	p.Gly338Arg	VAR_015011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015011	- Crouzon syndrome (CS) [MIM:123500]	SWISS	86	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Gly338Arg	VAR_015011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015011	- Crouzon syndrome (CS) [MIM:123500]	SWISS	196	smart00409	221316639,NP_000132
2263	120049	Disease	p.Gly338Arg	VAR_015011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015011	- Crouzon syndrome (CS) [MIM:123500]	SWISS	196	smart00410	221316639,NP_000132
2263	120049	Disease	p.Gly338Arg	VAR_015011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015011	- Crouzon syndrome (CS) [MIM:123500]	SWISS	108	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Gly338Arg	VAR_015011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015011	- Crouzon syndrome (CS) [MIM:123500]	SWISS	67	cd04968	221316639,NP_000132
2263	120049	Disease	p.Gly338Arg	VAR_015011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015011	- Crouzon syndrome (CS) [MIM:123500]	SWISS	91	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Gly338Arg	VAR_015011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015011	- Crouzon syndrome (CS) [MIM:123500]	SWISS	116	smart00408	221316639,NP_000132
2263	120049	Disease	p.Tyr340Cys	VAR_017269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017269	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	123	cd00096	221316639,NP_000132
2263	120049	Disease	p.Tyr340Cys	VAR_017269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017269	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	53	cd05725	221316639,NP_000132
2263	120049	Disease	p.Tyr340Cys	VAR_017269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017269	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	55	cd05723	221316639,NP_000132
2263	120049	Disease	p.Tyr340Cys	VAR_017269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017269	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	63	cd05765	221316639,NP_000132
2263	120049	Disease	p.Tyr340Cys	VAR_017269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017269	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	71	cd05858	221316639,NP_000132
2263	120049	Disease	p.Tyr340Cys	VAR_017269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017269	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	88	cd04974	221316639,NP_000132
2263	120049	Disease	p.Tyr340Cys	VAR_017269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017269	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	88	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Tyr340Cys	VAR_017269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017269	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	198	smart00409	221316639,NP_000132
2263	120049	Disease	p.Tyr340Cys	VAR_017269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017269	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	198	smart00410	221316639,NP_000132
2263	120049	Disease	p.Tyr340Cys	VAR_017269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017269	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	110	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Tyr340Cys	VAR_017269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017269	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	69	cd04968	221316639,NP_000132
2263	120049	Disease	p.Tyr340Cys	VAR_017269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017269	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	93	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Tyr340Cys	VAR_017269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017269	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	118	smart00408	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	VAR_004134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004134	- Crouzon syndrome (CS) [MIM:123500]	SWISS	123	cd00096	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	VAR_004134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004134	- Crouzon syndrome (CS) [MIM:123500]	SWISS	53	cd05725	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	VAR_004134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004134	- Crouzon syndrome (CS) [MIM:123500]	SWISS	55	cd05723	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	VAR_004134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004134	- Crouzon syndrome (CS) [MIM:123500]	SWISS	63	cd05765	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	VAR_004134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004134	- Crouzon syndrome (CS) [MIM:123500]	SWISS	71	cd05858	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	VAR_004134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004134	- Crouzon syndrome (CS) [MIM:123500]	SWISS	88	cd04974	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	VAR_004134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004134	- Crouzon syndrome (CS) [MIM:123500]	SWISS	88	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	VAR_004134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004134	- Crouzon syndrome (CS) [MIM:123500]	SWISS	198	smart00409	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	VAR_004134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004134	- Crouzon syndrome (CS) [MIM:123500]	SWISS	198	smart00410	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	VAR_004134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004134	- Crouzon syndrome (CS) [MIM:123500]	SWISS	110	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	VAR_004134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004134	- Crouzon syndrome (CS) [MIM:123500]	SWISS	69	cd04968	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	VAR_004134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004134	- Crouzon syndrome (CS) [MIM:123500]	SWISS	93	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Tyr340His	VAR_004134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004134	- Crouzon syndrome (CS) [MIM:123500]	SWISS	118	smart00408	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Crouzon syndrome (CS) [MIM:123500]	SWISS	124	cd00096	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Crouzon syndrome (CS) [MIM:123500]	SWISS	54	cd05725	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Crouzon syndrome (CS) [MIM:123500]	SWISS	56	cd05723	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Crouzon syndrome (CS) [MIM:123500]	SWISS	64	cd05765	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Crouzon syndrome (CS) [MIM:123500]	SWISS	72	cd05858	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Crouzon syndrome (CS) [MIM:123500]	SWISS	89	cd04974	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Crouzon syndrome (CS) [MIM:123500]	SWISS	89	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Crouzon syndrome (CS) [MIM:123500]	SWISS	199	smart00409	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Crouzon syndrome (CS) [MIM:123500]	SWISS	199	smart00410	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Crouzon syndrome (CS) [MIM:123500]	SWISS	111	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Crouzon syndrome (CS) [MIM:123500]	SWISS	70	cd04968	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Crouzon syndrome (CS) [MIM:123500]	SWISS	94	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Crouzon syndrome (CS) [MIM:123500]	SWISS	119	smart00408	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	124	cd00096	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	54	cd05725	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	56	cd05723	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	64	cd05765	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	72	cd05858	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	89	cd04974	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	89	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	199	smart00409	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	199	smart00410	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	111	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	70	cd04968	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	94	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Thr341Pro	VAR_004135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004135	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	119	smart00408	221316639,NP_000132
2263	120049	Disease	p.Cys342Phe	VAR_004136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004136	- Crouzon syndrome (CS) [MIM:123500]	SWISS	125	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys342Phe	VAR_004136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004136	- Crouzon syndrome (CS) [MIM:123500]	SWISS	55	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys342Phe	VAR_004136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004136	- Crouzon syndrome (CS) [MIM:123500]	SWISS	57	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys342Phe	VAR_004136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004136	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys342Phe	VAR_004136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004136	- Crouzon syndrome (CS) [MIM:123500]	SWISS	73	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys342Phe	VAR_004136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004136	- Crouzon syndrome (CS) [MIM:123500]	SWISS	90	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys342Phe	VAR_004136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004136	- Crouzon syndrome (CS) [MIM:123500]	SWISS	90	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys342Phe	VAR_004136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004136	- Crouzon syndrome (CS) [MIM:123500]	SWISS	200	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys342Phe	VAR_004136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004136	- Crouzon syndrome (CS) [MIM:123500]	SWISS	200	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys342Phe	VAR_004136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004136	- Crouzon syndrome (CS) [MIM:123500]	SWISS	112	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys342Phe	VAR_004136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004136	- Crouzon syndrome (CS) [MIM:123500]	SWISS	71	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys342Phe	VAR_004136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004136	- Crouzon syndrome (CS) [MIM:123500]	SWISS	95	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys342Phe	VAR_004136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004136	- Crouzon syndrome (CS) [MIM:123500]	SWISS	120	smart00408	221316639,NP_000132
2263	120049	Disease	p.Cys342Gly	VAR_017270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017270	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	125	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys342Gly	VAR_017270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017270	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	55	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys342Gly	VAR_017270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017270	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	57	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys342Gly	VAR_017270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017270	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	65	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys342Gly	VAR_017270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017270	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	73	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys342Gly	VAR_017270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017270	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	90	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys342Gly	VAR_017270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017270	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	90	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys342Gly	VAR_017270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017270	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	200	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys342Gly	VAR_017270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017270	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	200	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys342Gly	VAR_017270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017270	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	112	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys342Gly	VAR_017270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017270	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	71	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys342Gly	VAR_017270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017270	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	95	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys342Gly	VAR_017270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017270	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	120	smart00408	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	125	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	55	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	57	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	65	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	73	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	90	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	90	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	200	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	200	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	112	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	71	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	95	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	120	smart00408	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Crouzon syndrome (CS) [MIM:123500]	SWISS	125	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Crouzon syndrome (CS) [MIM:123500]	SWISS	55	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Crouzon syndrome (CS) [MIM:123500]	SWISS	57	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Crouzon syndrome (CS) [MIM:123500]	SWISS	73	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Crouzon syndrome (CS) [MIM:123500]	SWISS	90	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Crouzon syndrome (CS) [MIM:123500]	SWISS	90	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Crouzon syndrome (CS) [MIM:123500]	SWISS	200	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Crouzon syndrome (CS) [MIM:123500]	SWISS	200	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Crouzon syndrome (CS) [MIM:123500]	SWISS	112	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Crouzon syndrome (CS) [MIM:123500]	SWISS	71	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Crouzon syndrome (CS) [MIM:123500]	SWISS	95	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Crouzon syndrome (CS) [MIM:123500]	SWISS	120	smart00408	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	125	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	55	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	57	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	65	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	73	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	90	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	90	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	200	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	200	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	112	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	71	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	95	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	120	smart00408	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	125	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	55	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	57	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	65	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	73	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	90	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	90	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	200	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	200	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	112	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	71	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	95	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys342Arg	VAR_004137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004137	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	120	smart00408	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	125	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	55	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	57	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	65	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	73	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	90	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	90	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	200	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	200	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	112	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	71	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	95	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	120	smart00408	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Crouzon syndrome (CS) [MIM:123500]	SWISS	125	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Crouzon syndrome (CS) [MIM:123500]	SWISS	55	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Crouzon syndrome (CS) [MIM:123500]	SWISS	57	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Crouzon syndrome (CS) [MIM:123500]	SWISS	73	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Crouzon syndrome (CS) [MIM:123500]	SWISS	90	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Crouzon syndrome (CS) [MIM:123500]	SWISS	90	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Crouzon syndrome (CS) [MIM:123500]	SWISS	200	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Crouzon syndrome (CS) [MIM:123500]	SWISS	200	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Crouzon syndrome (CS) [MIM:123500]	SWISS	112	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Crouzon syndrome (CS) [MIM:123500]	SWISS	71	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Crouzon syndrome (CS) [MIM:123500]	SWISS	95	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Crouzon syndrome (CS) [MIM:123500]	SWISS	120	smart00408	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	125	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	55	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	57	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	65	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	73	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	90	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	90	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	200	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	200	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	112	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	71	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	95	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	120	smart00408	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	125	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	55	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	57	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	65	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	73	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	90	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	90	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	200	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	200	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	112	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	71	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	95	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys342Ser	VAR_004138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004138	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	120	smart00408	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	VAR_017271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017271	- Crouzon syndrome (CS) [MIM:123500]	SWISS	125	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	VAR_017271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017271	- Crouzon syndrome (CS) [MIM:123500]	SWISS	55	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	VAR_017271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017271	- Crouzon syndrome (CS) [MIM:123500]	SWISS	57	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	VAR_017271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017271	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	VAR_017271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017271	- Crouzon syndrome (CS) [MIM:123500]	SWISS	73	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	VAR_017271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017271	- Crouzon syndrome (CS) [MIM:123500]	SWISS	90	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	VAR_017271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017271	- Crouzon syndrome (CS) [MIM:123500]	SWISS	90	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	VAR_017271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017271	- Crouzon syndrome (CS) [MIM:123500]	SWISS	200	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	VAR_017271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017271	- Crouzon syndrome (CS) [MIM:123500]	SWISS	200	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	VAR_017271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017271	- Crouzon syndrome (CS) [MIM:123500]	SWISS	112	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	VAR_017271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017271	- Crouzon syndrome (CS) [MIM:123500]	SWISS	71	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	VAR_017271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017271	- Crouzon syndrome (CS) [MIM:123500]	SWISS	95	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys342Trp	VAR_017271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017271	- Crouzon syndrome (CS) [MIM:123500]	SWISS	120	smart00408	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Crouzon syndrome (CS) [MIM:123500]	SWISS	125	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Crouzon syndrome (CS) [MIM:123500]	SWISS	55	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Crouzon syndrome (CS) [MIM:123500]	SWISS	57	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Crouzon syndrome (CS) [MIM:123500]	SWISS	73	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Crouzon syndrome (CS) [MIM:123500]	SWISS	90	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Crouzon syndrome (CS) [MIM:123500]	SWISS	90	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Crouzon syndrome (CS) [MIM:123500]	SWISS	200	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Crouzon syndrome (CS) [MIM:123500]	SWISS	200	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Crouzon syndrome (CS) [MIM:123500]	SWISS	112	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Crouzon syndrome (CS) [MIM:123500]	SWISS	71	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Crouzon syndrome (CS) [MIM:123500]	SWISS	95	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Crouzon syndrome (CS) [MIM:123500]	SWISS	120	smart00408	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	125	cd00096	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	55	cd05725	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	57	cd05723	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	65	cd05765	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	73	cd05858	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	90	cd04974	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	90	pfam00047	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	200	smart00409	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	200	smart00410	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	112	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	71	cd04968	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	95	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Cys342Tyr	VAR_004139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004139	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	120	smart00408	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Crouzon syndrome (CS) [MIM:123500]	SWISS	127	cd00096	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Crouzon syndrome (CS) [MIM:123500]	SWISS	57	cd05725	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Crouzon syndrome (CS) [MIM:123500]	SWISS	59	cd05723	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Crouzon syndrome (CS) [MIM:123500]	SWISS	67	cd05765	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Crouzon syndrome (CS) [MIM:123500]	SWISS	75	cd05858	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Crouzon syndrome (CS) [MIM:123500]	SWISS	92	cd04974	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Crouzon syndrome (CS) [MIM:123500]	SWISS	205	smart00409	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Crouzon syndrome (CS) [MIM:123500]	SWISS	205	smart00410	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Crouzon syndrome (CS) [MIM:123500]	SWISS	114	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Crouzon syndrome (CS) [MIM:123500]	SWISS	73	cd04968	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Crouzon syndrome (CS) [MIM:123500]	SWISS	97	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Crouzon syndrome (CS) [MIM:123500]	SWISS	122	smart00408	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	127	cd00096	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	57	cd05725	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	59	cd05723	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	67	cd05765	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	75	cd05858	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	92	cd04974	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	205	smart00409	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	205	smart00410	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	114	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	73	cd04968	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	97	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Ala344Gly	VAR_004140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004140	- Jackson-Weiss syndrome (JWS) [MIM:123150]	SWISS	122	smart00408	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Crouzon syndrome (CS) [MIM:123500]	SWISS	127	cd00096	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Crouzon syndrome (CS) [MIM:123500]	SWISS	57	cd05725	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Crouzon syndrome (CS) [MIM:123500]	SWISS	59	cd05723	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Crouzon syndrome (CS) [MIM:123500]	SWISS	67	cd05765	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Crouzon syndrome (CS) [MIM:123500]	SWISS	75	cd05858	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Crouzon syndrome (CS) [MIM:123500]	SWISS	92	cd04974	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Crouzon syndrome (CS) [MIM:123500]	SWISS	205	smart00409	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Crouzon syndrome (CS) [MIM:123500]	SWISS	205	smart00410	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Crouzon syndrome (CS) [MIM:123500]	SWISS	114	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Crouzon syndrome (CS) [MIM:123500]	SWISS	73	cd04968	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Crouzon syndrome (CS) [MIM:123500]	SWISS	97	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Crouzon syndrome (CS) [MIM:123500]	SWISS	122	smart00408	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	127	cd00096	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	57	cd05725	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	59	cd05723	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	67	cd05765	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	75	cd05858	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	92	cd04974	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	205	smart00409	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	205	smart00410	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	114	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	73	cd04968	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	97	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Ala344Pro	VAR_004141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004141	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	122	smart00408	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	VAR_004142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004142	- Crouzon syndrome (CS) [MIM:123500]	SWISS	130	cd00096	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	VAR_004142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004142	- Crouzon syndrome (CS) [MIM:123500]	SWISS	60	cd05725	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	VAR_004142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004142	- Crouzon syndrome (CS) [MIM:123500]	SWISS	62	cd05723	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	VAR_004142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004142	- Crouzon syndrome (CS) [MIM:123500]	SWISS	70	cd05765	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	VAR_004142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004142	- Crouzon syndrome (CS) [MIM:123500]	SWISS	78	cd05858	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	VAR_004142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004142	- Crouzon syndrome (CS) [MIM:123500]	SWISS	95	cd04974	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	VAR_004142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004142	- Crouzon syndrome (CS) [MIM:123500]	SWISS	224	smart00409	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	VAR_004142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004142	- Crouzon syndrome (CS) [MIM:123500]	SWISS	224	smart00410	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	VAR_004142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004142	- Crouzon syndrome (CS) [MIM:123500]	SWISS	119	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	VAR_004142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004142	- Crouzon syndrome (CS) [MIM:123500]	SWISS	76	cd04968	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	VAR_004142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004142	- Crouzon syndrome (CS) [MIM:123500]	SWISS	100	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Ser347Cys	VAR_004142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004142	- Crouzon syndrome (CS) [MIM:123500]	SWISS	125	smart00408	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	167	cd00096	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	64	cd05725	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	66	cd05723	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	74	cd05765	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	82	cd05858	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	101	cd04974	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	231	smart00409	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	231	smart00410	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	137	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	80	cd04968	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Antley-Bixler syndrome (ABS) [MIM:207410]	SWISS	105	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Crouzon syndrome (CS) [MIM:123500]	SWISS	167	cd00096	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Crouzon syndrome (CS) [MIM:123500]	SWISS	64	cd05725	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Crouzon syndrome (CS) [MIM:123500]	SWISS	66	cd05723	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Crouzon syndrome (CS) [MIM:123500]	SWISS	74	cd05765	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Crouzon syndrome (CS) [MIM:123500]	SWISS	82	cd05858	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Crouzon syndrome (CS) [MIM:123500]	SWISS	101	cd04974	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Crouzon syndrome (CS) [MIM:123500]	SWISS	231	smart00409	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Crouzon syndrome (CS) [MIM:123500]	SWISS	231	smart00410	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Crouzon syndrome (CS) [MIM:123500]	SWISS	137	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Crouzon syndrome (CS) [MIM:123500]	SWISS	80	cd04968	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Crouzon syndrome (CS) [MIM:123500]	SWISS	105	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	167	cd00096	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	64	cd05725	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	66	cd05723	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	74	cd05765	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	82	cd05858	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	101	cd04974	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	231	smart00409	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	231	smart00410	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	137	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	80	cd04968	221316639,NP_000132
2263	120049	Disease	p.Ser351Cys	VAR_004143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004143	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	105	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	VAR_004144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004144	- Crouzon syndrome (CS) [MIM:123500]	SWISS	170	cd00096	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	VAR_004144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004144	- Crouzon syndrome (CS) [MIM:123500]	SWISS	67	cd05725	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	VAR_004144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004144	- Crouzon syndrome (CS) [MIM:123500]	SWISS	69	cd05723	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	VAR_004144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004144	- Crouzon syndrome (CS) [MIM:123500]	SWISS	77	cd05765	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	VAR_004144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004144	- Crouzon syndrome (CS) [MIM:123500]	SWISS	85	cd05858	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	VAR_004144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004144	- Crouzon syndrome (CS) [MIM:123500]	SWISS	104	cd04974	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	VAR_004144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004144	- Crouzon syndrome (CS) [MIM:123500]	SWISS	238	smart00409	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	VAR_004144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004144	- Crouzon syndrome (CS) [MIM:123500]	SWISS	238	smart00410	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	VAR_004144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004144	- Crouzon syndrome (CS) [MIM:123500]	SWISS	140	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	VAR_004144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004144	- Crouzon syndrome (CS) [MIM:123500]	SWISS	83	cd04968	221316639,NP_000132
2263	120049	Disease	p.Ser354Cys	VAR_004144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004144	- Crouzon syndrome (CS) [MIM:123500]	SWISS	108	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Ser354Tyr	VAR_017272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017272	- Crouzon syndrome (CS) [MIM:123500]	SWISS	170	cd00096	221316639,NP_000132
2263	120049	Disease	p.Ser354Tyr	VAR_017272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017272	- Crouzon syndrome (CS) [MIM:123500]	SWISS	67	cd05725	221316639,NP_000132
2263	120049	Disease	p.Ser354Tyr	VAR_017272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017272	- Crouzon syndrome (CS) [MIM:123500]	SWISS	69	cd05723	221316639,NP_000132
2263	120049	Disease	p.Ser354Tyr	VAR_017272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017272	- Crouzon syndrome (CS) [MIM:123500]	SWISS	77	cd05765	221316639,NP_000132
2263	120049	Disease	p.Ser354Tyr	VAR_017272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017272	- Crouzon syndrome (CS) [MIM:123500]	SWISS	85	cd05858	221316639,NP_000132
2263	120049	Disease	p.Ser354Tyr	VAR_017272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017272	- Crouzon syndrome (CS) [MIM:123500]	SWISS	104	cd04974	221316639,NP_000132
2263	120049	Disease	p.Ser354Tyr	VAR_017272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017272	- Crouzon syndrome (CS) [MIM:123500]	SWISS	238	smart00409	221316639,NP_000132
2263	120049	Disease	p.Ser354Tyr	VAR_017272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017272	- Crouzon syndrome (CS) [MIM:123500]	SWISS	238	smart00410	221316639,NP_000132
2263	120049	Disease	p.Ser354Tyr	VAR_017272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017272	- Crouzon syndrome (CS) [MIM:123500]	SWISS	140	pfam07686	221316639,NP_000132
2263	120049	Disease	p.Ser354Tyr	VAR_017272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017272	- Crouzon syndrome (CS) [MIM:123500]	SWISS	83	cd04968	221316639,NP_000132
2263	120049	Disease	p.Ser354Tyr	VAR_017272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017272	- Crouzon syndrome (CS) [MIM:123500]	SWISS	108	pfam07679	221316639,NP_000132
2263	120049	Disease	p.Val359Phe	VAR_004146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004146	- Crouzon syndrome (CS) [MIM:123500]	SWISS	90	cd05858	221316639,NP_000132
2263	120049	Disease	p.Val359Phe	VAR_004146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004146	- Crouzon syndrome (CS) [MIM:123500]	SWISS	109	cd04974	221316639,NP_000132
2263	120049	Disease	p.Val359Phe	VAR_004146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004146	- Crouzon syndrome (CS) [MIM:123500]	SWISS	250	smart00409	221316639,NP_000132
2263	120049	Disease	p.Val359Phe	VAR_004146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004146	- Crouzon syndrome (CS) [MIM:123500]	SWISS	250	smart00410	221316639,NP_000132
2263	120049	Disease	p.Val359Phe	VAR_004146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004146	- Crouzon syndrome (CS) [MIM:123500]	SWISS	88	cd04968	221316639,NP_000132
2263	120049	Disease	p.Val359Phe	VAR_004146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004146	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	90	cd05858	221316639,NP_000132
2263	120049	Disease	p.Val359Phe	VAR_004146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004146	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	109	cd04974	221316639,NP_000132
2263	120049	Disease	p.Val359Phe	VAR_004146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004146	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	250	smart00409	221316639,NP_000132
2263	120049	Disease	p.Val359Phe	VAR_004146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004146	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	250	smart00410	221316639,NP_000132
2263	120049	Disease	p.Val359Phe	VAR_004146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004146	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	88	cd04968	221316639,NP_000132
2263	120049	Disease	p.Ala362Ser	VAR_017273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017273	- Crouzon syndrome (CS) [MIM:123500]	SWISS	No Domain	N/A	221316639,NP_000132
2263	120049	Disease	p.Ser372Cys	VAR_017274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017274	- Beare-Stevenson cutis gyrata syndrome (BSCGS) [MIM:123790]	SWISS	No Domain	N/A	221316639,NP_000132
2263	120049	Disease	p.Tyr375Cys	VAR_017275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017275	- Beare-Stevenson cutis gyrata syndrome (BSCGS) [MIM:123790]	SWISS	No Domain	N/A	221316639,NP_000132
2263	120049	Disease	p.Tyr375Cys	VAR_017275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017275	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	No Domain	N/A	221316639,NP_000132
2263	120049	Disease	p.Gly384Arg	VAR_004147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004147	- Crouzon syndrome (CS) [MIM:123500]	SWISS	No Domain	N/A	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	45	cd07843	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	55	cd06618	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	51	cd06644	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	53	cd07865	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	29	cd07852	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	66	cd06639	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	82	cd05105	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	82	cd05107	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	80	cd05104	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	56	cd07880	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	57	cd07850	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	55	cd07878	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	63	cd07851	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	51	cd06632	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	46	cd05584	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	70	cd06614	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	46	cd07845	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	48_G	cd06646	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	48_G	cd06645	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	58	cd06607	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	60	cd06655	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	62	cd05101	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	60	cd06659	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	61	cd06658	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	65	cd05098	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	51	cd06612	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	44	cd06640	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	44	cd06641	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	44	cd06642	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	71	cd06608	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	43	cd06613	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	45	cd07844	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	59	cd05099	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	57	cd06638	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	51	cd05108	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	59	cd05053	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	59	cd05100	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	59	cd08528	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	40	cd08219	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	62	cd07834	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	41	cd08223	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	50	cd06628	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	45	cd06630	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	45	cd05045	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	42	cd07841	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	46	cd06627	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	41	cd08530	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	41	cd07860	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	43	cd08220	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	45	cd08222	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	43	cd08218	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	46	cd06651	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	46	cd05614	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	103	cd06606	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	43	cd08225	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	44	cd06631	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	59	cd08215	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	57	cd05122	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	40	cd05615	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	42	cd05616	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	42	cd05587	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	43	cd07832	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	49	cd06629	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	40	cd05605	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	43	cd07863	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	42	cd05578	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	46	cd05583	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	35	cd07853	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	41	cd07857	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	44	cd06643	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	49	cd05092	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	50	cd05049	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	45	cd06611	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	61	cd05097	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	64	cd05095	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	61	cd05096	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	83	cd05051	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	110	cd05046	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	50	cd05050	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	49	cd05090	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	49	cd05091	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	52_G	cd06648	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	49	cd05093	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	49	cd05094	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	51	cd05048	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	49	cd05063	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	48	cd05064	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	110	smart00220	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	61	cd06654	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	58	cd07877	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	50	pfam00069	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	72	cd07830	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	70	pfam07714	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	141	smart00219	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	43	cd05059	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	47	cd07854	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	44	cd07838	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	225	smart00221	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	40	cd05589	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	53	cd05035	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	42	cd05075	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	43	cd05074	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	43	cd07835	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	47	cd07858	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	45	cd05069	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	44_G	cd05073	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	43_G	cd05034	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	46	cd05148	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	45	cd05039	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	45	cd05067	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	44	cd05082	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	44	cd05083	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	45	cd05070	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	44_G	cd05072	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	45	cd05068	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	51	cd05061	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	45	cd05071	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	78	cd05056	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	46	cd07864	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	82	cd05032	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	44	cd06637	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	51	cd05036	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	51	cd05062	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	44	cd05089	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	45	cd07870	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	45_G	cd05052	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	57	cd06634	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	37	cd05115	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	73	cd00180	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	84	cd05572	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	36	cd05579	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	33	cd05608	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	38	cd05607	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	64	cd05123	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	37	cd05047	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	41	cd08221	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	47	cd06624	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	52	cd05054	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	52	cd05103	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	52	cd05102	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	100	cd05057	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	44	cd08228	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	41	cd06617	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	51	cd07856	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	44	cd08229	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	42	cd06605	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	90	cd05580	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	207	COG0515	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	44	cd06621	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	41	cd07839	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	54	cd06609	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	62	cd06619	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	41	cd06615	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	71	cd07848	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	40	cd07861	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	41	cd07837	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	41	cd07847	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	40	cd07836	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	42	cd07862	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	41	cd06622	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	47	cd08529	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	42	cd06610	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	43	cd05612	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	51	cd06623	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	88	cd05581	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	49	cd05088	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	43	cd05114	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	43	cd05113	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	43	cd05112	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	48	cd05080	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	51	cd05111	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	51	cd05109	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	48	cd07866	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	51	cd06616	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	51	cd05110	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	47	cd05065	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	71	cd05033	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	47	cd05066	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	52	cd05038	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	48	cd05079	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	47	cd05081	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	84	cd05106	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	67	cd06635	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	60	cd06656	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	60	cd06647	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	46	cd06625	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	131	cd07842	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	39	cd07831	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	41	cd06917	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	41	cd07846	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	61	cd07833	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	44	cd06626	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	45	cd07829	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	65	cd07840	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	54	cd06636	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	82	cd05055	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	37	cd05619	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	37	cd05620	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	45	cd05058	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	40	cd05042	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	37	cd05087	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	37	cd05086	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	41	cd08217	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	37	cd05588	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	37	cd05617	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	43	cd05060	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	37	cd05116	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	40	cd05078	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	45	cd05077	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	59	cd05037	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	57	cd05076	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	82	cd00192	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	37	cd05592	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	35	cd05085	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	35	cd05084	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	41	cd05040	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	36	cd05041	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	41	cd05044	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	37	cd05570	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	37	cd05593	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	37	cd05571	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	37_G	cd05595	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	37	cd05594	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	37	cd05590	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	37	cd05591	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	38	cd05582	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	43	cd05118	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	43	cd07849	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	64	cd05043	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	46	cd06652	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	45	cd08224	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	45	cd07871	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	46	cd07872	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	46	cd06653	221316639,NP_000132
2263	120049	Disease	p.Lys526Glu	VAR_023788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023788	- Familial scaphocephaly syndrome (FSPC) [MIM:609579]	SWISS	46	cd07873	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	73	cd07843	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	78	cd06618	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	73	cd06644	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	76	cd07865	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	72	cd07852	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	90	cd06639	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	105	cd05105	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	105	cd05107	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	103	cd05104	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	78	cd07880	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	80	cd07850	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	78	cd07878	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	85	cd07851	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	73	cd06632	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	68	cd05584	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	92	cd06614	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	70	cd07845	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	70	cd06646	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	70	cd06645	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	79	cd06607	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	80	cd06655	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	85	cd05101	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	82	cd06659	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	83	cd06658	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	88	cd05098	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	74	cd06612	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	66	cd06640	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	66	cd06641	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	66	cd06642	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	92	cd06608	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	66	cd06613	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	67	cd07844	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	82	cd05099	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	79	cd06638	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	73	cd05108	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	82	cd05053	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	82	cd05100	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	82	cd08528	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	62	cd08219	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	93	cd07834	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	63	cd08223	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	72	cd06628	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	67	cd06630	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	67	cd05045	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	78	cd07841	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	68	cd06627	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	64	cd08530	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	63	cd07860	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd08220	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	67	cd08222	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	63	cd08218	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	68	cd06651	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	69	cd05614	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	128	cd06606	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	63	cd08225	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	66	cd06631	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	82	cd08215	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	80	cd05122	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	64	cd05615	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd05616	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	70	cd05587	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	70	cd07832	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	72	cd06629	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	64	cd05605	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	69	cd07863	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	64	cd05578	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	69	cd05583	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	63	cd07853	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	66	cd07857	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	66	cd06643	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	71	cd05092	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	72	cd05049	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	68	cd06611	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	83	cd05097	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	86	cd05095	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	83	cd05096	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	105	cd05051	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	132	cd05046	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	72	cd05050	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	71	cd05090	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	72	cd05091	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	80	cd06648	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	71	cd05093	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	71	cd05094	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	73	cd05048	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	71	cd05063	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	70	cd05064	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	199	smart00220	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	81	cd06654	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	80	cd07877	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	100	pfam00069	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	97	cd07830	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	99	pfam07714	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	218	smart00219	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	63	cd05059	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	69	cd07854	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	71	cd07838	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	296	smart00221	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	66	cd05589	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	75	cd05035	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	64	cd05075	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd05074	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	69	cd07835	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	69	cd07858	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd05069	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd05073	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd05034	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	67	cd05148	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	67	cd05039	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd05067	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	63	cd05082	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	63	cd05083	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd05070	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd05072	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd05068	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	73	cd05061	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd05071	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	100	cd05056	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	70	cd07864	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	104	cd05032	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	67	cd06637	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	73	cd05036	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	73	cd05062	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	67	cd05089	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	67	cd07870	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	66	cd05052	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	79	cd06634	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	59	cd05115	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	176	cd00180	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	106	cd05572	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	59	cd05579	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	57	cd05608	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	57	cd05607	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	98	cd05123	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	60	cd05047	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	63	cd08221	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	69	cd06624	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	75	cd05054	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	75	cd05103	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	75	cd05102	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	122	cd05057	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	66	cd08228	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	64	cd06617	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	73	cd07856	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	66	cd08229	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd06605	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	113	cd05580	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	364	COG0515	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	66	cd06621	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	63	cd07839	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	77	cd06609	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	84	cd06619	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	63	cd06615	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	93	cd07848	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	64	cd07861	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd07837	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	64	cd07847	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	62	cd07836	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	68	cd07862	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	63	cd06622	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	67	cd08529	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd06610	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd05612	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	83	cd06623	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	116	cd05581	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	72	cd05088	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	63	cd05114	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	63	cd05113	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	63	cd05112	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	70	cd05080	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	73	cd05111	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	73	cd05109	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	72	cd07866	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	74	cd06616	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	73	cd05110	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	69	cd05065	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	93	cd05033	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	69	cd05066	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	74	cd05038	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	70	cd05079	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	69	cd05081	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	107	cd05106	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	89	cd06635	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	80	cd06656	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	80	cd06647	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	68	cd06625	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	158	cd07842	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	62	cd07831	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	72	cd06917	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd07846	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	85	cd07833	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	66	cd06626	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	72	cd07829	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	90	cd07840	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	77	cd06636	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	105	cd05055	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	60	cd05619	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	60	cd05620	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	67	cd05058	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	62	cd05042	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	59	cd05087	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	59	cd05086	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	63	cd08217	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	60	cd05588	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	60	cd05617	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	65	cd05060	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	60	cd05116	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	63	cd05078	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	68	cd05077	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	80	cd05037	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	80	cd05076	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	115	cd00192	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	60	cd05592	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	57	cd05085	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	57	cd05084	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	63	cd05040	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	58	cd05041	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	63	cd05044	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	62	cd05570	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	59	cd05593	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	59	cd05571	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	59	cd05595	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	59	cd05594	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	60	cd05590	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	60	cd05591	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	62	cd05582	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	66	cd05118	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	71	cd07849	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	87	cd05043	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	68	cd06652	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	67	cd08224	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	67	cd07871	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	68	cd07872	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	68	cd06653	221316639,NP_000132
2263	120049	Disease	p.Asn549His	VAR_017276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017276	- Crouzon syndrome (CS) [MIM:123500]	SWISS	68	cd07873	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	94	cd07843	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	94	cd06618	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	89	cd06644	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	92	cd07865	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	90	cd07852	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	111	cd06639	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	121	cd05105	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	121	cd05107	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	119	cd05104	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	94	cd07880	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	96	cd07850	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	91	cd07878	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	110	cd07851	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	99	cd06632	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	84	cd05584	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	110	cd06614	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	88	cd07845	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	86	cd06646	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	86	cd06645	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	95	cd06607	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	96	cd06655	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	101	cd05101	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	98	cd06659	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	99	cd06658	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	104	cd05098	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	91	cd06612	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	82	cd06640	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	82	cd06641	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	82	cd06642	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	119	cd06608	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	82	cd06613	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	83	cd07844	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	98	cd05099	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	100	cd06638	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	88	cd05108	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	98	cd05053	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	98	cd05100	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	98	cd08528	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	78	cd08219	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	123	cd07834	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	80	cd08223	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	88	cd06628	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	83	cd06630	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	83	cd05045	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	95	cd07841	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	85	cd06627	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	82	cd08530	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	79	cd07860	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	81	cd08220	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	83	cd08222	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	79	cd08218	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	86	cd06651	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	85	cd05614	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	155	cd06606	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	79	cd08225	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	84	cd06631	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	106	cd08215	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	104	cd05122	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	81	cd05615	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	81	cd05616	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	86	cd05587	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	92	cd07832	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	88	cd06629	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	80	cd05605	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	90	cd07863	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	80	cd05578	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	85	cd05583	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	85	cd07853	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	74	cd07857	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	82	cd06643	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	87	cd05092	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	90	cd05049	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	84	cd06611	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	99	cd05097	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	102	cd05095	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	99	cd05096	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	122	cd05051	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	148	cd05046	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	88	cd05050	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	87	cd05090	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	88	cd05091	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	96	cd06648	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	87	cd05093	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	87	cd05094	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	89	cd05048	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	87	cd05063	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	86	cd05064	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	303	smart00220	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	97	cd06654	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	93	cd07877	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	136	pfam00069	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	120	cd07830	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	131	pfam07714	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	244	smart00219	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	79	cd05059	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	87	cd07854	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	104	cd07838	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	372	smart00221	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	82	cd05589	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	97	cd05035	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	86	cd05075	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	87	cd05074	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	86	cd07835	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	75	cd07858	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	80	cd05069	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	81	cd05073	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	81	cd05034	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	83	cd05148	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	84	cd05039	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	80	cd05067	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	80	cd05082	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	78	cd05083	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	80	cd05070	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	81	cd05072	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	81	cd05068	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	89	cd05061	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	80	cd05071	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	115	cd05056	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	87	cd07864	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	122	cd05032	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	89	cd06637	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	89	cd05036	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	89	cd05062	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	83	cd05089	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	83	cd07870	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	82	cd05052	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	95	cd06634	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	74	cd05115	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	247	cd00180	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	122	cd05572	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	75	cd05579	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	73	cd05608	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	73	cd05607	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	114	cd05123	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	76	cd05047	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	79	cd08221	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	90	cd06624	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	92	cd05054	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	92	cd05103	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	92	cd05102	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	138	cd05057	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	82	cd08228	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	80	cd06617	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	90	cd07856	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	82	cd08229	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	84	cd06605	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	129	cd05580	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	428	COG0515	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	84	cd06621	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	79	cd07839	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	95	cd06609	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	100	cd06619	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	79	cd06615	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	109	cd07848	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	80	cd07861	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	93	cd07837	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	80	cd07847	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	78	cd07836	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	89	cd07862	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	79	cd06622	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	84	cd08529	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	81	cd06610	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	81	cd05612	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	104	cd06623	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	132	cd05581	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	88	cd05088	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	79	cd05114	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	79	cd05113	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	79	cd05112	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	88	cd05080	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	88	cd05111	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	88	cd05109	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	79	cd07866	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	90	cd06616	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	88	cd05110	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	85	cd05065	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	109	cd05033	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	85	cd05066	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	98	cd05038	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	88	cd05079	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	87	cd05081	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	123	cd05106	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	105	cd06635	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	96	cd06656	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	96	cd06647	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	86	cd06625	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	176	cd07842	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	80	cd07831	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	88	cd06917	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	81	cd07846	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	102	cd07833	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	82	cd06626	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	107	cd07829	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	123	cd07840	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	99	cd06636	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	121	cd05055	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	76	cd05619	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	76	cd05620	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	84	cd05058	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	78	cd05042	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	75	cd05087	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	75	cd05086	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	81	cd08217	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	76	cd05588	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	76	cd05617	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	80	cd05060	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	75	cd05116	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	79	cd05078	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	84	cd05077	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	96	cd05037	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	96	cd05076	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	142	cd00192	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	76	cd05592	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	73	cd05085	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	73	cd05084	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	80	cd05040	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	74	cd05041	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	79	cd05044	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	78	cd05570	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	75	cd05593	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	75	cd05571	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	75	cd05595	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	75	cd05594	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	76	cd05590	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	76	cd05591	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	78	cd05582	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	88	cd05118	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	77	cd07849	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	112	cd05043	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	86	cd06652	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	83	cd08224	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	83	cd07871	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	84	cd07872	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	86	cd06653	221316639,NP_000132
2263	120049	Disease	p.Glu565Gly	VAR_017277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017277	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	84	cd07873	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	145	cd07843	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	146	cd06618	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	137	cd06644	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	151	cd07865	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	136	cd07852	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	162	cd06639	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	267	cd05105	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	269	cd05107	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	251	cd05104	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	50	smart00750	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	145	cd07880	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	147	cd07850	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	145	cd07878	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	161	cd07851	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	146	cd06632	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	131	cd05584	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	179	cd06614	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	148	cd07845	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	133	cd06646	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	133	cd06645	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	142	cd06607	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	142	cd06655	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	164	cd05101	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	144	cd06659	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	145	cd06658	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	167	cd05098	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	142	cd06612	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	128	cd06640	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	128	cd06641	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	128	cd06642	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	170	cd06608	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	130	cd06613	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	131	cd07844	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	161	cd05099	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	151	cd06638	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	136	cd05108	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	177	cd05053	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	161	cd05100	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	150	cd08528	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	127	cd08219	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	170	cd07834	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	129	cd08223	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	135	cd06628	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	130	cd06630	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	154	cd05045	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	144	cd07841	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	134	cd06627	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	133	cd08530	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	127	cd07860	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	137	cd08220	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	134	cd08222	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	128	cd08218	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	133	cd06651	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	132	cd05614	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	208	cd06606	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	128	cd08225	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	131	cd06631	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	170	cd08215	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	161	cd05122	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	128	cd05615	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	128	cd05616	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	133	cd05587	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	142	cd07832	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	137	cd06629	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	129	cd05605	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	138	cd07863	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	128	cd05578	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	132	cd05583	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	131	cd07853	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	136	cd07857	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	130	cd06643	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	149	cd05092	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	154	cd05049	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	132	cd06611	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	158	cd05097	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	168	cd05095	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	183	cd05096	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	188	cd05051	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	213	cd05046	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	160	cd05050	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	151	cd05090	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	151	cd05091	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	143	cd06648	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	147	cd05093	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	150	cd05094	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	154	cd05048	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	135	cd05063	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	134	cd05064	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	429	smart00220	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	143	cd06654	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	147	cd07877	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	218	pfam00069	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	179	cd07830	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	283	pfam07714	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	424	smart00219	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	129	cd05059	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	153	cd07854	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	153	cd07838	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	539	smart00221	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	128	cd05589	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	150	cd05035	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	154	cd05075	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	140	cd05074	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	153	cd07835	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	136	cd07858	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	129	cd05069	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	130	cd05073	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	130	cd05034	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	132	cd05148	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	133	cd05039	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	129	cd05067	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	129	cd05082	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	127	cd05083	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	129	cd05070	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	130	cd05072	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	132	cd05068	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	147	cd05061	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	129	cd05071	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	163	cd05056	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	145	cd07864	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	191	cd05032	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	138	cd06637	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	145	cd05036	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	146	cd05062	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	146	cd05089	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	130	cd07870	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	131	cd05052	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	142	cd06634	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	122	cd05115	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	368	cd00180	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	195	cd05572	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	123	cd05579	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	124	cd05608	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	122	cd05607	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	643	cd05123	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	139	cd05047	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	129	cd08221	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	140	cd06624	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	255	cd05054	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	207	cd05103	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	205	cd05102	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	189	cd05057	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	133	cd08228	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	132	cd06617	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	135	cd07856	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	133	cd08229	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	145	cd06605	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	181	cd05580	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	559	COG0515	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	137	cd06621	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	126	cd07839	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	150	cd06609	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	143	cd06619	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	129	cd06615	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	156	cd07848	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	129	cd07861	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	145	cd07837	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	133	cd07847	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	130	cd07836	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	137	cd07862	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	142	cd06622	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	133	cd08529	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	139	cd06610	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	128	cd05612	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	175	cd06623	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	243	cd05581	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	151	cd05088	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	127	cd05114	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	128	cd05113	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	127	cd05112	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	134	cd05080	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	136	cd05111	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	136	cd05109	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	158	cd07866	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	142	cd06616	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	136	cd05110	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	133	cd05065	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	165	cd05033	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	133	cd05066	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	155	cd05038	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	136	cd05079	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	135	cd05081	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	249	cd05106	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	152	cd06635	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	142	cd06656	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	142	cd06647	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	133	cd06625	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	231	cd07842	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	128	cd07831	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	137	cd06917	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	128	cd07846	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	149	cd07833	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	129	cd06626	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	167	cd07829	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	176	cd07840	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	148	cd06636	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	266	cd05055	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	123	cd05619	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	138	cd05620	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	132	cd05058	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	130	cd05042	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	132	cd05087	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	127	cd05086	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	159	cd08217	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	123	cd05588	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	123	cd05617	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	129	cd05060	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	122	cd05116	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	129	cd05078	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	132	cd05077	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	146	cd05037	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	144	cd05076	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	336	cd00192	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	138	cd05592	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	121	cd05085	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	121	cd05084	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	131	cd05040	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	123	cd05041	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	137	cd05044	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	125	cd05570	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	122	cd05593	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	123	cd05571	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	122	cd05595	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	123	cd05594	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	123	cd05590	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	123	cd05591	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	125	cd05582	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	136	cd05118	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	137	cd07849	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	169	cd05043	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	157	cd06652	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	134	cd08224	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	130	cd07871	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	131	cd07872	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	133	cd06653	221316639,NP_000132
2263	120049	Disease	p.Ala628Thr	VAR_029884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029884	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	131	cd07873	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	159	cd07843	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	159	cd06618	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	150	cd06644	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	164	cd07865	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	149	cd07852	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	175	cd06639	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	280	cd05105	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	282	cd05107	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	264	cd05104	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	70	smart00750	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	158	cd07880	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	160	cd07850	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	158	cd07878	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	174	cd07851	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	159	cd06632	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	144	cd05584	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	192	cd06614	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	161	cd07845	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	146	cd06646	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	146	cd06645	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	155	cd06607	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	155	cd06655	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	177	cd05101	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	157	cd06659	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	158	cd06658	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	180	cd05098	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	155	cd06612	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	141	cd06640	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	141	cd06641	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	141	cd06642	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	183	cd06608	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	143	cd06613	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	144	cd07844	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	174	cd05099	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	164	cd06638	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	149	cd05108	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	190	cd05053	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	174	cd05100	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	163	cd08528	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	140	cd08219	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	186	cd07834	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	142	cd08223	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	148	cd06628	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	144	cd06630	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	167	cd05045	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	157	cd07841	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	150	cd06627	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	149	cd08530	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	140	cd07860	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	151	cd08220	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	146	cd08222	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	141	cd08218	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	146	cd06651	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	145	cd05614	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	230	cd06606	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	142	cd08225	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	144	cd06631	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	200	cd08215	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	175	cd05122	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	141	cd05615	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	141	cd05616	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	146	cd05587	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	160	cd07832	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	150	cd06629	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	142	cd05605	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	151	cd07863	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	141	cd05578	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	145	cd05583	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	144	cd07853	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	149	cd07857	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	143	cd06643	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	162	cd05092	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	172	cd05049	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	145	cd06611	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	171	cd05097	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	181	cd05095	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	207	cd05096	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	205	cd05051	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	226	cd05046	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	173	cd05050	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	164	cd05090	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	164	cd05091	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	156	cd06648	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	160	cd05093	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	163	cd05094	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	167	cd05048	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	148	cd05063	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	147	cd05064	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	508	smart00220	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	156	cd06654	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	160	cd07877	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	251	pfam00069	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	216	cd07830	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	315	pfam07714	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	453	smart00219	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	142	cd05059	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	167	cd07854	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	167	cd07838	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	601	smart00221	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	141	cd05589	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	163	cd05035	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	167	cd05075	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	153	cd05074	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	167	cd07835	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	149	cd07858	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	142	cd05069	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	143	cd05073	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	147	cd05034	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	145	cd05148	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	146	cd05039	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	142	cd05067	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	142	cd05082	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	140	cd05083	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	142	cd05070	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	143	cd05072	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	145	cd05068	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	160	cd05061	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	142	cd05071	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	176	cd05056	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	158	cd07864	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	204	cd05032	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	151	cd06637	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	161	cd05036	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	159	cd05062	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	159	cd05089	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	143	cd07870	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	144	cd05052	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	155	cd06634	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	135	cd05115	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	440	cd00180	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	208	cd05572	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	136	cd05579	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	137	cd05608	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	135	cd05607	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	656	cd05123	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	152	cd05047	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	142	cd08221	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	154	cd06624	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	268	cd05054	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	220	cd05103	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	218	cd05102	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	202	cd05057	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	146	cd08228	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	145	cd06617	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	148	cd07856	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	146	cd08229	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	159	cd06605	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	194	cd05580	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	660	COG0515	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	150	cd06621	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	139	cd07839	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	164	cd06609	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	156	cd06619	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	142	cd06615	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	169	cd07848	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	142	cd07861	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	159	cd07837	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	146	cd07847	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	143	cd07836	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	150	cd07862	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	156	cd06622	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	146	cd08529	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	152	cd06610	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	141	cd05612	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	189	cd06623	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	256	cd05581	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	164	cd05088	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	140	cd05114	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	141	cd05113	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	140	cd05112	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	147	cd05080	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	149	cd05111	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	149	cd05109	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	171	cd07866	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	155	cd06616	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	149	cd05110	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	146	cd05065	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	178	cd05033	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	146	cd05066	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	172	cd05038	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	149	cd05079	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	148	cd05081	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	262	cd05106	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	165	cd06635	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	155	cd06656	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	155	cd06647	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	146	cd06625	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	250	cd07842	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	147	cd07831	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	151	cd06917	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	141	cd07846	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	167	cd07833	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	143	cd06626	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	190	cd07829	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	190	cd07840	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	161	cd06636	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	279	cd05055	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	136	cd05619	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	151	cd05620	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	145	cd05058	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	143	cd05042	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	145	cd05087	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	140	cd05086	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	211	cd08217	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	136	cd05588	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	136	cd05617	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	142	cd05060	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	135	cd05116	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	150	cd05078	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	152	cd05077	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	167	cd05037	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	164	cd05076	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	360	cd00192	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	151	cd05592	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	134	cd05085	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	134	cd05084	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	148	cd05040	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	136	cd05041	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	157	cd05044	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	138	cd05570	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	135	cd05593	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	136	cd05571	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	135	cd05595	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	136	cd05594	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	136	cd05590	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	136	cd05591	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	138	cd05582	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	149	cd05118	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	150	cd07849	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	185	cd05043	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	170	cd06652	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	147	cd08224	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	143	cd07871	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	144	cd07872	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	146	cd06653	221316639,NP_000132
2263	120049	Disease	p.Lys641Arg	VAR_017278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017278	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	144	cd07873	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	166	cd07843	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	166	cd06618	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	157	cd06644	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	171	cd07865	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	156	cd07852	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	182	cd06639	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	287	cd05105	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	289	cd05107	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	271	cd05104	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	77	smart00750	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	165	cd07880	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	167	cd07850	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	165	cd07878	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	181	cd07851	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	166	cd06632	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	151	cd05584	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	199	cd06614	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	168	cd07845	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	153	cd06646	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	153	cd06645	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	162	cd06607	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	162	cd06655	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	184	cd05101	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	164	cd06659	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	165	cd06658	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	187	cd05098	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	162	cd06612	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	148	cd06640	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	148	cd06641	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	148	cd06642	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	190	cd06608	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	150	cd06613	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	151	cd07844	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	181	cd05099	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	171	cd06638	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	156	cd05108	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	197	cd05053	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	181	cd05100	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	170	cd08528	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	147	cd08219	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	193	cd07834	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	149	cd08223	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	155	cd06628	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	151	cd06630	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	174	cd05045	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	164	cd07841	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	157	cd06627	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	156	cd08530	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	147	cd07860	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	158	cd08220	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	153	cd08222	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	148	cd08218	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	153	cd06651	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	152	cd05614	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	237	cd06606	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	149	cd08225	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	151	cd06631	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	207	cd08215	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	182	cd05122	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	148	cd05615	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	148	cd05616	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	153	cd05587	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	167	cd07832	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	157	cd06629	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	149	cd05605	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	158	cd07863	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	148	cd05578	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	152	cd05583	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	151	cd07853	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	156	cd07857	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	150	cd06643	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	169	cd05092	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	179	cd05049	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	153	cd06611	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	178	cd05097	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	188	cd05095	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	214	cd05096	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	212	cd05051	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	233	cd05046	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	180	cd05050	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	171	cd05090	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	171	cd05091	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	163	cd06648	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	167	cd05093	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	170	cd05094	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	174	cd05048	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	155	cd05063	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	154	cd05064	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	533	smart00220	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	163	cd06654	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	167	cd07877	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	258	pfam00069	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	223	cd07830	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	322	pfam07714	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	460	smart00219	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	149	cd05059	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	174	cd07854	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	174	cd07838	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	625	smart00221	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	148	cd05589	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	170	cd05035	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	174	cd05075	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	160	cd05074	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	174	cd07835	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	156	cd07858	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	149	cd05069	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	150	cd05073	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	154	cd05034	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	152	cd05148	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	153	cd05039	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	149	cd05067	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	149	cd05082	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	147	cd05083	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	149	cd05070	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	150	cd05072	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	152	cd05068	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	167	cd05061	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	149	cd05071	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	183	cd05056	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	165	cd07864	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	211	cd05032	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	158	cd06637	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	168	cd05036	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	166	cd05062	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	166	cd05089	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	150	cd07870	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	151	cd05052	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	162	cd06634	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	142	cd05115	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	447	cd00180	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	215	cd05572	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	143	cd05579	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	144	cd05608	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	142	cd05607	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	663	cd05123	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	159	cd05047	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	149	cd08221	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	161	cd06624	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	275	cd05054	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	227	cd05103	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	225	cd05102	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	209	cd05057	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	153	cd08228	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	152	cd06617	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	155	cd07856	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	153	cd08229	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	166	cd06605	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	201	cd05580	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	667	COG0515	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	161	cd06621	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	146	cd07839	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	171	cd06609	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	163	cd06619	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	149	cd06615	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	176	cd07848	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	149	cd07861	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	166	cd07837	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	153	cd07847	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	150	cd07836	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	157	cd07862	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	163	cd06622	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	153	cd08529	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	159	cd06610	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	148	cd05612	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	196	cd06623	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	263	cd05581	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	171	cd05088	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	147	cd05114	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	148	cd05113	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	147	cd05112	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	154	cd05080	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	156	cd05111	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	156	cd05109	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	178	cd07866	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	162	cd06616	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	156	cd05110	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	153	cd05065	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	185	cd05033	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	153	cd05066	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	179	cd05038	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	156	cd05079	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	155	cd05081	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	269	cd05106	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	172	cd06635	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	162	cd06656	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	162	cd06647	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	153	cd06625	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	257	cd07842	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	154	cd07831	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	158	cd06917	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	148	cd07846	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	174	cd07833	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	150	cd06626	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	197	cd07829	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	197	cd07840	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	168	cd06636	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	286	cd05055	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	143	cd05619	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	158	cd05620	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	152	cd05058	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	150	cd05042	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	152	cd05087	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	147	cd05086	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	218	cd08217	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	143	cd05588	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	143	cd05617	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	149	cd05060	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	142	cd05116	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	157	cd05078	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	159	cd05077	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	174	cd05037	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	171	cd05076	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	367	cd00192	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	158	cd05592	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	141	cd05085	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	141	cd05084	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	155	cd05040	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	143	cd05041	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	164	cd05044	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	145	cd05570	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	142	cd05593	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	143	cd05571	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	142	cd05595	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	143	cd05594	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	143	cd05590	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	143	cd05591	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	145	cd05582	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	156	cd05118	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	157	cd07849	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	192	cd05043	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	177	cd06652	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	154	cd08224	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	150	cd07871	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	151	cd07872	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	153	cd06653	221316639,NP_000132
2263	120049	Disease	p.Ala648Thr	VAR_029885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029885	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	151	cd07873	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	176	cd07843	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	179	cd06618	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	170	cd06644	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	189	cd07865	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	178	cd07852	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	197	cd06639	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	302	cd05105	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	304	cd05107	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	286	cd05104	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	100	smart00750	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	174	cd07880	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	181	cd07850	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	174	cd07878	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	193	cd07851	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	178	cd06632	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	166	cd05584	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	219_G	cd06614	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	183	cd07845	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	168	cd06646	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	168	cd06645	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	174_G	cd06607	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	176	cd06655	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	199	cd05101	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	178	cd06659	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	180	cd06658	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	202	cd05098	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	178	cd06612	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	163	cd06640	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	163	cd06641	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	163	cd06642	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	205	cd06608	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	165	cd06613	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	164	cd07844	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	196	cd05099	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	186	cd06638	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	171	cd05108	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	212	cd05053	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	196	cd05100	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	185	cd08528	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	162	cd08219	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	236	cd07834	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	164	cd08223	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	171	cd06628	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	163	cd06630	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	189	cd05045	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	192	cd07841	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	173	cd06627	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	170	cd08530	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	160	cd07860	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	171	cd08220	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	168	cd08222	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	163	cd08218	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	168	cd06651	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	166	cd05614	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	278	cd06606	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	164	cd08225	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	166	cd06631	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	234_G	cd08215	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	202	cd05122	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	162	cd05615	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	162	cd05616	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	168	cd05587	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	181_G	cd07832	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	173	cd06629	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	160	cd05605	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	169	cd07863	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	168	cd05578	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	167	cd05583	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	165	cd07853	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	172	cd07857	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	168_G	cd06643	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	184	cd05092	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	194	cd05049	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	166	cd06611	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	193	cd05097	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	203	cd05095	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	229	cd05096	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	232	cd05051	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	247	cd05046	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	195	cd05050	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	186	cd05090	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	186	cd05091	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	178	cd06648	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	182	cd05093	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	192	cd05094	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	189	cd05048	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	171	cd05063	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	169	cd05064	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	657	smart00220	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	177	cd06654	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	176	cd07877	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	291	pfam00069	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	241_G	cd07830	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	340	pfam07714	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	535	smart00219	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	163	cd05059	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	190	cd07854	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	192	cd07838	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	721	smart00221	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	161	cd05589	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	185	cd05035	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	189	cd05075	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	175	cd05074	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	187	cd07835	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	172	cd07858	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	163	cd05069	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	164	cd05073	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	174	cd05034	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	166	cd05148	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	166	cd05039	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	163	cd05067	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	160_G	cd05082	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	157	cd05083	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	163	cd05070	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	164	cd05072	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	169	cd05068	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	182	cd05061	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	163	cd05071	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	199	cd05056	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	180	cd07864	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	226	cd05032	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	173	cd06637	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	184	cd05036	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	181	cd05062	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	178	cd05089	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	164_G	cd07870	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	165	cd05052	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	176_G	cd06634	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	158	cd05115	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	620	cd00180	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	228_G	cd05572	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	694	cd05579	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	157	cd05608	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	154	cd05607	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	684	cd05123	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	171	cd05047	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	166	cd08221	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	176	cd06624	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	291	cd05054	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	242	cd05103	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	240	cd05102	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	225	cd05057	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	163	cd08228	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	166	cd06617	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	164	cd07856	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	163	cd08229	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	183_G	cd06605	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	227_G	cd05580	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	797	COG0515	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	175_G	cd06621	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	160_G	cd07839	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	191	cd06609	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	179	cd06619	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	162	cd06615	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	189_G	cd07848	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	162	cd07861	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	179	cd07837	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	170	cd07847	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	163	cd07836	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	170	cd07862	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	176	cd06622	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	168	cd08529	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	175	cd06610	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	160	cd05612	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	216	cd06623	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	394	cd05581	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	183	cd05088	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	161	cd05114	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	162	cd05113	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	161	cd05112	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	170	cd05080	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	171	cd05111	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	171	cd05109	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	200	cd07866	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	176	cd06616	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	171	cd05110	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	171	cd05065	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	205	cd05033	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	169	cd05066	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	195	cd05038	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	172	cd05079	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	171	cd05081	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	284	cd05106	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	186_G	cd06635	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	176	cd06656	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	176	cd06647	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	170	cd06625	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	272	cd07842	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	159	cd07831	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	174	cd06917	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	165	cd07846	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	197	cd07833	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	157	cd06626	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	200_G	cd07829	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	212	cd07840	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	183	cd06636	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	301	cd05055	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	157	cd05619	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	172	cd05620	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	169	cd05058	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	166	cd05042	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	167	cd05087	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	162	cd05086	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	237_G	cd08217	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	156	cd05588	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	158	cd05617	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	165	cd05060	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	158	cd05116	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	168_G	cd05078	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	170	cd05077	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	187_G	cd05037	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	182	cd05076	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	391	cd00192	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	173	cd05592	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	155	cd05085	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	156	cd05084	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	173	cd05040	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	158	cd05041	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	179	cd05044	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	158	cd05570	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	157	cd05593	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	156	cd05571	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	157	cd05595	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	158	cd05594	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	156	cd05590	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	156	cd05591	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	158	cd05582	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	175	cd05118	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	172	cd07849	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	207	cd05043	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	189	cd06652	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	164	cd08224	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	163	cd07871	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	164	cd07872	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	165	cd06653	221316639,NP_000132
2263	120049	Disease	p.Gly663Glu	VAR_017280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017280	- Pfeiffer syndrome (PS) [MIM:101600]	SWISS	164	cd07873	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	197	cd07843	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	193	cd06618	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	190	cd06644	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	206	cd07865	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	204	cd07852	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	215	cd06639	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	317	cd05105	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	319	cd05107	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	301	cd05104	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	122	smart00750	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	190	cd07880	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	196	cd07850	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	190	cd07878	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	209	cd07851	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	197	cd06632	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	179	cd05584	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	229	cd06614	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	199	cd07845	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	182	cd06646	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	182	cd06645	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	189	cd06607	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	190	cd06655	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	214	cd05101	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	192	cd06659	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	193	cd06658	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	217	cd05098	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	191	cd06612	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	176	cd06640	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	176	cd06641	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	176	cd06642	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	228	cd06608	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	178	cd06613	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	180	cd07844	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	211	cd05099	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	204	cd06638	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	186	cd05108	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	227	cd05053	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	211	cd05100	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	198	cd08528	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	175	cd08219	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	262	cd07834	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	177	cd08223	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	191	cd06628	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	184	cd06630	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	204	cd05045	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	213	cd07841	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	218	cd06627	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	183	cd08530	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	176	cd07860	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	185	cd08220	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	181	cd08222	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	176	cd08218	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	184	cd06651	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	181	cd05614	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	291	cd06606	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	177	cd08225	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	185	cd06631	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	243	cd08215	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	215	cd05122	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	176	cd05615	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	176	cd05616	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	181	cd05587	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	198	cd07832	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	188	cd06629	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	176	cd05605	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	185	cd07863	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	181	cd05578	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	182	cd05583	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	181	cd07853	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	193	cd07857	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	183	cd06643	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	199	cd05092	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	209	cd05049	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	185	cd06611	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	208	cd05097	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	218	cd05095	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	244	cd05096	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	247	cd05051	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	262	cd05046	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	210	cd05050	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	201	cd05090	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	201	cd05091	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	191	cd06648	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	197	cd05093	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	207	cd05094	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	204	cd05048	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	186	cd05063	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	184	cd05064	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	739	smart00220	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	191	cd06654	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	192	cd07877	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	327	pfam00069	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	251	cd07830	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	360	pfam07714	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	564	smart00219	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	178	cd05059	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	206	cd07854	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	224	cd07838	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	827	smart00221	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	176	cd05589	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	200	cd05035	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	204	cd05075	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	190	cd05074	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	203	cd07835	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	189	cd07858	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	178	cd05069	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	179	cd05073	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	189	cd05034	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	181	cd05148	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	181	cd05039	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	178	cd05067	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	174	cd05082	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	172	cd05083	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	178	cd05070	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	179	cd05072	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	184	cd05068	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	197	cd05061	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	178	cd05071	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	214	cd05056	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	196	cd07864	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	241	cd05032	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	191	cd06637	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	199	cd05036	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	196	cd05062	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	193	cd05089	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	178	cd07870	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	180	cd05052	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	189	cd06634	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	173	cd05115	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	635	cd00180	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	246	cd05572	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	718	cd05579	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	172	cd05608	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	169	cd05607	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	744	cd05123	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	186	cd05047	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	179	cd08221	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	191	cd06624	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	306	cd05054	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	257	cd05103	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	255	cd05102	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	240	cd05057	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	181	cd08228	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	183	cd06617	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	181	cd07856	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	181	cd08229	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	194	cd06605	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	236	cd05580	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	867	COG0515	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	184	cd06621	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	175	cd07839	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	204	cd06609	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	189	cd06619	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	175	cd06615	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	205	cd07848	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	178	cd07861	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	195	cd07837	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	183	cd07847	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	179	cd07836	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	185	cd07862	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	200	cd06622	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	181	cd08529	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	197	cd06610	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	173	cd05612	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	229	cd06623	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	412	cd05581	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	198	cd05088	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	176	cd05114	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	177	cd05113	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	176	cd05112	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	185	cd05080	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	186	cd05111	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	186	cd05109	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	225	cd07866	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	189	cd06616	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	186	cd05110	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	186	cd05065	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	220	cd05033	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	184	cd05066	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	210	cd05038	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	187	cd05079	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	186	cd05081	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	299	cd05106	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	199	cd06635	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	190	cd06656	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	190	cd06647	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	184	cd06625	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	291	cd07842	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	182	cd07831	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	189	cd06917	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	178	cd07846	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	223	cd07833	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	205_G	cd06626	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	229	cd07829	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	237	cd07840	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	201	cd06636	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	316	cd05055	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	171	cd05619	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	186	cd05620	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	184	cd05058	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	180	cd05042	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	181	cd05087	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	180	cd05086	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	246	cd08217	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	171	cd05588	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	171	cd05617	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	180	cd05060	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	173	cd05116	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	182	cd05078	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	184	cd05077	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	200	cd05037	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	195	cd05076	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	406	cd00192	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	187	cd05592	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	170	cd05085	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	171	cd05084	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	188	cd05040	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	173	cd05041	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	194	cd05044	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	173	cd05570	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	170	cd05593	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	171	cd05571	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	170	cd05595	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	171	cd05594	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	171	cd05590	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	171	cd05591	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	173	cd05582	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	188	cd05118	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	200	cd07849	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	222	cd05043	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	208	cd06652	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	182	cd08224	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	178	cd07871	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	179	cd07872	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	184	cd06653	221316639,NP_000132
2263	120049	Disease	p.Arg678Gly	VAR_017281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017281	- Crouzon syndrome (CS) [MIM:123500]	SWISS	179	cd07873	221316639,NP_000132
2261	120050	Disease	p.Arg248Cys	VAR_004148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004148	- Keratinocytic non-epidermolytic nevus [MIM:162900]	SWISS	No Domain	N/A	4503711,NP_000133
2261	120050	Disease	p.Arg248Cys	VAR_004148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004148	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	No Domain	N/A	4503711,NP_000133
2261	120050	Disease	p.Arg248Cys	VAR_004148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004148	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	No Domain	N/A	4503711,NP_000133
2261	120050	Disease	p.Ser249Cys	VAR_004149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004149	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	2	cd05732	4503711,NP_000133
2261	120050	Disease	p.Ser249Cys	VAR_004149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004149	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	2	cd05732	4503711,NP_000133
2261	120050	Disease	p.Pro250Arg	VAR_004150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004150	rs4647924 Muenke syndrome (MNKS) [MIM:602849]	SWISS	3	cd05732	4503711,NP_000133
2261	120050	Disease	p.Gly370Cys	VAR_004151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004151	- Keratinocytic non-epidermolytic nevus [MIM:162900]	SWISS	No Domain	N/A	4503711,NP_000133
2261	120050	Disease	p.Gly370Cys	VAR_004151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004151	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	No Domain	N/A	4503711,NP_000133
2261	120050	Disease	p.Gly370Cys	VAR_004151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004151	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	No Domain	N/A	4503711,NP_000133
2261	120050	Disease	p.Ser371Cys	VAR_004152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004152	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	No Domain	N/A	4503711,NP_000133
2261	120050	Disease	p.Ser371Cys	VAR_004152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004152	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	No Domain	N/A	4503711,NP_000133
2261	120050	Disease	p.Tyr373Cys	VAR_004153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004153	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	No Domain	N/A	4503711,NP_000133
2261	120050	Disease	p.Tyr373Cys	VAR_004153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004153	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	No Domain	N/A	4503711,NP_000133
2261	120050	Disease	p.Gly375Cys	VAR_004154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004154	- Achondroplasia (ACH) [MIM:100800]	SWISS	No Domain	N/A	4503711,NP_000133
2261	120050	Disease	p.Gly380Arg	VAR_004155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004155	rs28931614 Achondroplasia (ACH) [MIM:100800]	SWISS	No Domain	N/A	4503711,NP_000133
2261	120050	Disease	p.Gly380Arg	VAR_004155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004155	rs28931614 Keratinocytic non-epidermolytic nevus [MIM:162900]	SWISS	No Domain	N/A	4503711,NP_000133
2261	120050	Disease	p.Ala391Glu	VAR_004156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004156	rs28931615 Crouzon syndrome with acanthosis nigricans (CAN) [MIM:612247]	SWISS	No Domain	N/A	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	203	COG0515	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	39	cd05612	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	47	cd07856	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	36	cd07836	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37	cd06615	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	50	cd06609	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	58	cd06619	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37	cd06622	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	45	cd06623	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	42	cd08228	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37	cd06617	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	38	cd07862	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37	cd07847	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	45	cd06629	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	84	cd05580	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	42	cd08229	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	57	cd07876	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37	cd07837	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	42	cd06653	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	43_G	cd06651	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	43_G	cd06652	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	41	cd08224	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	57	cd06654	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	61	cd05098	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	77	cd05051	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	106	cd05046	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	60	cd05095	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	57	cd05096	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	46	cd05050	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	50	cd06636	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	57	cd05097	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	46	cd05049	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	45	cd05092	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	45	cd06645	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	45	cd05094	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	45	cd05093	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	44	cd05064	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	45	cd05063	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	47	cd05048	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	45	cd05090	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	46	cd05091	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	49	cd07865	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	41	cd05045	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	43	cd07863	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	34_G	cd07853	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	53	cd07834	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37	cd07857	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	39	cd05583	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	36	cd05616	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	53	cd08528	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	38_G	cd08530	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37	cd05578	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	36	cd05587	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	38	cd08222	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	51	cd05122	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	39_G	cd05605	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	43	cd06608	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	40	cd06631	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	46	cd08215	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	49	cd06606	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37	cd06626	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	39	cd08225	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	40_G	cd08218	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37	cd08223	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	43	cd06630	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	46	cd06628	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	38	cd07841	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37	cd06627	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	47	cd06632	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37	cd07860	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	36	cd07861	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	36	cd05615	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	43	cd08219	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	38	cd07832	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	69	cd05056	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	42	cd07872	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	41	cd07870	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	49	cd07858	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	43	cd07854	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	47	cd05061	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	42	cd05052	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	41	cd05067	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	41	cd05034	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	41	cd05068	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	41	cd05073	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	41	cd05070	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	40	cd05039	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	42	cd05148	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	40	cd05082	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	40	cd05083	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	41	cd05072	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	41	cd05069	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	47	cd05062	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	47	cd05036	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	78	cd05032	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	40	cd05089	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	41	cd07844	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	41	cd07871	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	42	cd07873	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	41	cd05071	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	50	cd07864	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	58	cd07878	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	56	cd06659	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	54	cd07850	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	55_G	cd07851	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	56	cd06647	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	56	cd06656	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	45	cd06646	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	40	cd06640	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	40	cd06641	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	39	cd06613	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	46	cd05038	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	40	cd06642	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	62	cd06639	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	54	cd07877	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	53	cd06634	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	54	cd06607	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	52_G	cd06648	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	47	cd06644	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	39	cd05584	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	76	cd05104	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	78	cd05055	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	80	cd05106	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	67	cd05057	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	55	cd06657	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	48	cd05103	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	48	cd05102	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	48	cd05054	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	44_G	cd07866	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	47	cd05109	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	45	cd05088	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	39	cd05112	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	39	cd05113	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	39	cd05059	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	39	cd05114	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	43	cd05065	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	67	cd05033	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	44	cd05079	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	44	cd05081	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	43	cd05066	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	60	cd05043	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	47	cd05108	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	47	cd05110	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	47	cd05111	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	47	cd06616	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	44	cd05080	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	36	cd08529	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	40	cd06637	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	38	cd06610	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	36	cd07839	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	59	cd07840	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	38	cd07829	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	85	cd05581	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	42	cd06611	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	59_G	cd06655	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	47	cd07852	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	42	cd07843	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	116	cd07842	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	42	cd06625	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37	cd07846	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	35	cd07831	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	38	cd08216	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	39	cd07833	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37	cd06917	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37_G	cd05593	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37_G	cd05595	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	31	cd05590	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	31	cd05570	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	43	cd05077	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	55	cd05037	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	78	cd00192	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	36	cd05078	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	53	cd05076	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37	cd08217	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	35	cd05118	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	31	cd05620	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	31	cd05619	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37	cd05592	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	31	cd05085	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	31	cd05041	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	35	cd05040	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	39	cd08220	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37	cd05044	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	31	cd05084	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	33	cd05087	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	41	cd05058	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	36	cd05042	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	33	cd05086	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37_G	cd05571	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	34	cd05582	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	35	cd05588	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37_G	cd05594	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	31	cd05591	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	33	cd05116	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	38	cd05060	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	59	cd06658	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	66	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	45	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	68	cd07830	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	135	smart00219	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	162	smart00221	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	38	cd07835	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	36	cd05589	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	38	cd05074	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	39	cd06621	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	38	cd05075	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	49	cd05035	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	38	cd07838	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37	cd06605	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	66	cd06614	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	58	cd05101	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	51	cd07880	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	51	cd06618	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	91	smart00220	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	64_G	cd06635	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	78	cd05105	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	78	cd05107	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	43	cd06624	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	40	cd06643	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	55	cd05100	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	55	cd05099	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	55	cd05053	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	53	cd06638	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	43	cd07845	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37	cd05577	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	78	cd05572	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	69	cd00180	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	46	cd06612	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	37	cd08221	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	29	cd05579	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	49	cd05123	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	33	cd05115	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	33_G	cd05608	4503711,NP_000133
2261	120050	Disease	p.Asp513Asn	VAR_029887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029887	- Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	SWISS	33	cd05047	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	362	COG0515	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05612	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd07856	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd07836	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	61	cd06615	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	75	cd06609	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	82	cd06619	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	61	cd06622	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	81	cd06623	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd08228	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd06617	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd07862	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd07847	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd06629	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	111	cd05580	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd08229	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	82	cd07876	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd07837	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06653	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06651	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06652	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd08224	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	79	cd06654	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	86	cd05098	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	103	cd05051	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	130	cd05046	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	84	cd05095	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	81	cd05096	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd05050	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	75	cd06636	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	81	cd05097	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd05049	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd05092	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd06645	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd05094	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd05093	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd05064	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd05063	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05048	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd05090	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd05091	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	74	cd07865	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05045	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd07863	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	61	cd07853	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	91	cd07834	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd07857	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd05583	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05616	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd08528	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd08530	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd05578	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd05587	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd08222	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd05122	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd05605	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	90	cd06608	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd06631	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd08215	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	126	cd06606	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd06626	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	61	cd08225	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	61	cd08218	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	61	cd08223	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd06630	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd06628	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	76	cd07841	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06627	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd06632	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	61	cd07860	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd07861	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05615	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd08219	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd07832	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	98	cd05056	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd07872	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd07870	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd07858	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd07854	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05061	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd05052	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05067	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05034	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05068	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05073	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05070	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05039	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05148	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	61	cd05082	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	61	cd05083	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05072	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05069	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05062	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05036	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	102	cd05032	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05089	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd07844	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd07871	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd07873	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05071	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd07864	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	76	cd07878	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd06659	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd07850	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	83	cd07851	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd06647	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd06656	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd06646	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd06640	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd06641	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd06613	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd05038	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd06642	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	88	cd06639	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd07877	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	77	cd06634	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	77	cd06607	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd06648	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd06644	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd05584	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	101	cd05104	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	103	cd05055	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	105	cd05106	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	120	cd05057	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	79	cd06657	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05103	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05102	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05054	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd07866	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05109	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd05088	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	61	cd05112	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	61	cd05113	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	61	cd05059	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	61	cd05114	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd05065	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	91	cd05033	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd05079	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd05081	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd05066	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	85	cd05043	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05108	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05110	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05111	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd06616	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd05080	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd08529	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd06637	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd06610	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	61	cd07839	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	88	cd07840	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd07829	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	114	cd05581	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06611	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd06655	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd07852	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd07843	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	156	cd07842	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06625	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd07846	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd07831	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd08216	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	83	cd07833	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd06917	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	57	cd05593	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	57	cd05595	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	58	cd05590	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05570	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd05077	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd05037	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	113	cd00192	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	61	cd05078	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd05076	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	61	cd08217	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd05118	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	58	cd05620	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	58	cd05619	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	58	cd05592	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	55	cd05085	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	56	cd05041	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	61	cd05040	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd08220	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	61	cd05044	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	55	cd05084	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	57	cd05087	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05058	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05042	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	57	cd05086	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	57	cd05571	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05582	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	58	cd05588	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	57	cd05594	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	58	cd05591	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	58	cd05116	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05060	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	81	cd06658	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	97	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	96	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	95	cd07830	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	216	smart00219	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	294	smart00221	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd07835	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd05589	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05074	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd06621	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd05075	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05035	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd07838	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd06605	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	90	cd06614	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	83	cd05101	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	76	cd07880	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	76	cd06618	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	197	smart00220	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	87	cd06635	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	103	cd05105	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	103	cd05107	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd06624	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd06643	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd05100	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd05099	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd05053	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	77	cd06638	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd07845	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	58	cd05577	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	104	cd05572	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	174	cd00180	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd06612	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	61	cd08221	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	57	cd05579	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	96	cd05123	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	57	cd05115	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	55	cd05608	4503711,NP_000133
2261	120050	Disease	p.Ile538Val	VAR_004157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004157	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	58	cd05047	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	364	COG0515	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05612	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd07856	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd07836	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd06615	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	77	cd06609	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	84	cd06619	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd06622	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	83	cd06623	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd08228	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd06617	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd07862	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd07847	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd06629	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	113	cd05580	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd08229	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	84	cd07876	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd07837	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd06653	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd06651	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd06652	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd08224	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	81	cd06654	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	88	cd05098	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	105	cd05051	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	132	cd05046	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	86	cd05095	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	83	cd05096	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd05050	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	77	cd06636	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	83	cd05097	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd05049	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05092	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd06645	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05094	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05093	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd05064	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05063	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05048	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05090	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd05091	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	76	cd07865	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd05045	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd07863	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd07853	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	93	cd07834	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd07857	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd05583	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05616	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	82	cd08528	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd08530	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd05578	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd05587	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd08222	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd05122	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd05605	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	92	cd06608	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06631	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	82	cd08215	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	128	cd06606	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06626	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd08225	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd08218	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd08223	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd06630	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd06628	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd07841	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd06627	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd06632	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd07860	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd07861	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05615	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd08219	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd07832	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	100	cd05056	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd07872	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd07870	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd07858	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd07854	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05061	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd05052	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05067	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05034	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05068	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05073	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05070	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd05039	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd05148	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05082	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05083	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05072	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05069	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05062	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05036	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	104	cd05032	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd05089	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd07844	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd07871	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd07873	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05071	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd07864	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd07878	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	82	cd06659	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd07850	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	85	cd07851	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd06647	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd06656	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd06646	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06640	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06641	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06613	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	74	cd05038	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06642	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	90	cd06639	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd07877	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	79	cd06634	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	79	cd06607	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd06648	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd06644	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd05584	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	103	cd05104	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	105	cd05055	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	107	cd05106	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	122	cd05057	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	81	cd06657	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	75	cd05103	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	75	cd05102	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	75	cd05054	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd07866	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05109	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd05088	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05112	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05113	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05059	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05114	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd05065	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	93	cd05033	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd05079	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd05081	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd05066	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	87	cd05043	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05108	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05110	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05111	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	74	cd06616	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd05080	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd08529	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd06637	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd06610	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd07839	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	90	cd07840	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd07829	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	116	cd05581	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd06611	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd06655	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd07852	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd07843	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	158	cd07842	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd06625	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd07846	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd07831	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd08216	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	85	cd07833	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd06917	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05593	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05595	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05590	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd05570	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd05077	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd05037	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	115	cd00192	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05078	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd05076	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd08217	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd05118	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05620	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05619	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05592	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	57	cd05085	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	58	cd05041	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05040	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd08220	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05044	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	57	cd05084	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05087	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd05058	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd05042	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05086	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05571	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd05582	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05588	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05594	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05591	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05116	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05060	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	83	cd06658	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	99	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	100	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	97	cd07830	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	218	smart00219	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	296	smart00221	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd07835	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd05589	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05074	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06621	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd05075	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	75	cd05035	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd07838	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd06605	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	92	cd06614	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	85	cd05101	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd07880	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd06618	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	199	smart00220	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	89	cd06635	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	105	cd05105	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	105	cd05107	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd06624	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06643	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	82	cd05100	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	82	cd05099	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	82	cd05053	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	79	cd06638	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd07845	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05577	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	106	cd05572	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	176	cd00180	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	74	cd06612	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd08221	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05579	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	98	cd05123	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05115	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	57	cd05608	4503711,NP_000133
2261	120050	Disease	p.Asn540Lys	VAR_004158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004158	rs28933068 Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05047	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	364	COG0515	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05612	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd07856	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd07836	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd06615	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	77	cd06609	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	84	cd06619	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd06622	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	83	cd06623	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd08228	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd06617	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd07862	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd07847	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd06629	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	113	cd05580	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd08229	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	84	cd07876	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd07837	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd06653	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd06651	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd06652	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd08224	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	81	cd06654	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	88	cd05098	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	105	cd05051	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	132	cd05046	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	86	cd05095	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	83	cd05096	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd05050	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	77	cd06636	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	83	cd05097	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd05049	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05092	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd06645	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05094	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05093	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd05064	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05063	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05048	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05090	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd05091	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	76	cd07865	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd05045	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd07863	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd07853	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	93	cd07834	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd07857	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd05583	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05616	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	82	cd08528	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd08530	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd05578	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd05587	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd08222	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd05122	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd05605	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	92	cd06608	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06631	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	82	cd08215	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	128	cd06606	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06626	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd08225	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd08218	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd08223	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd06630	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd06628	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd07841	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd06627	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd06632	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd07860	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd07861	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05615	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd08219	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd07832	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	100	cd05056	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd07872	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd07870	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd07858	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd07854	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05061	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd05052	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05067	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05034	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05068	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05073	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05070	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd05039	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd05148	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05082	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05083	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05072	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05069	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05062	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05036	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	104	cd05032	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd05089	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd07844	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd07871	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd07873	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05071	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd07864	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd07878	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	82	cd06659	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd07850	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	85	cd07851	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd06647	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd06656	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd06646	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06640	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06641	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06613	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	74	cd05038	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06642	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	90	cd06639	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd07877	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	79	cd06634	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	79	cd06607	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd06648	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd06644	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd05584	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	103	cd05104	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	105	cd05055	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	107	cd05106	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	122	cd05057	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	81	cd06657	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	75	cd05103	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	75	cd05102	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	75	cd05054	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd07866	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05109	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd05088	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05112	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05113	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05059	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05114	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd05065	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	93	cd05033	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd05079	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd05081	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd05066	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	87	cd05043	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05108	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05110	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05111	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	74	cd06616	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd05080	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd08529	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd06637	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd06610	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd07839	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	90	cd07840	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd07829	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	116	cd05581	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd06611	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd06655	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd07852	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd07843	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	158	cd07842	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd06625	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd07846	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd07831	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd08216	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	85	cd07833	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd06917	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05593	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05595	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05590	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd05570	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd05077	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd05037	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	115	cd00192	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05078	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd05076	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd08217	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd05118	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05620	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05619	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05592	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	57	cd05085	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	58	cd05041	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05040	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd08220	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05044	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	57	cd05084	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05087	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd05058	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd05042	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05086	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05571	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd05582	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05588	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05594	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05591	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05116	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05060	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	83	cd06658	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	99	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	100	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	97	cd07830	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	218	smart00219	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	296	smart00221	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd07835	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd05589	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05074	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06621	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd05075	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	75	cd05035	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd07838	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd06605	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	92	cd06614	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	85	cd05101	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd07880	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd06618	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	199	smart00220	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	89	cd06635	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	105	cd05105	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	105	cd05107	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd06624	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06643	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	82	cd05100	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	82	cd05099	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	82	cd05053	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	79	cd06638	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd07845	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05577	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	106	cd05572	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	176	cd00180	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	74	cd06612	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd08221	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05579	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	98	cd05123	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05115	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	57	cd05608	4503711,NP_000133
2261	120050	Disease	p.Asn540Ser	VAR_018389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018389	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05047	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	364	COG0515	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05612	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd07856	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd07836	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd06615	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	77	cd06609	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	84	cd06619	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd06622	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	83	cd06623	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd08228	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd06617	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd07862	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd07847	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd06629	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	113	cd05580	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd08229	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	84	cd07876	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd07837	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd06653	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd06651	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd06652	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd08224	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	81	cd06654	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	88	cd05098	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	105	cd05051	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	132	cd05046	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	86	cd05095	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	83	cd05096	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd05050	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	77	cd06636	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	83	cd05097	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd05049	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05092	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd06645	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05094	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05093	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd05064	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05063	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05048	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd05090	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd05091	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	76	cd07865	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd05045	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd07863	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd07853	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	93	cd07834	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd07857	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd05583	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05616	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	82	cd08528	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd08530	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd05578	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd05587	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd08222	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd05122	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd05605	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	92	cd06608	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06631	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	82	cd08215	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	128	cd06606	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06626	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd08225	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd08218	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd08223	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd06630	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd06628	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd07841	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd06627	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd06632	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd07860	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd07861	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05615	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd08219	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd07832	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	100	cd05056	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd07872	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd07870	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd07858	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd07854	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05061	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd05052	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05067	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05034	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05068	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05073	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05070	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd05039	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd05148	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05082	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05083	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05072	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05069	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05062	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05036	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	104	cd05032	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd05089	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd07844	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd07871	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd07873	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05071	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd07864	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd07878	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	82	cd06659	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd07850	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	85	cd07851	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd06647	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd06656	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd06646	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06640	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06641	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06613	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	74	cd05038	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06642	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	90	cd06639	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd07877	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	79	cd06634	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	79	cd06607	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd06648	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd06644	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd05584	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	103	cd05104	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	105	cd05055	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	107	cd05106	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	122	cd05057	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	81	cd06657	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	75	cd05103	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	75	cd05102	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	75	cd05054	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd07866	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05109	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd05088	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05112	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05113	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05059	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05114	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd05065	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	93	cd05033	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd05079	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd05081	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd05066	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	87	cd05043	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05108	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05110	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd05111	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	74	cd06616	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd05080	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd08529	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd06637	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd06610	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd07839	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	90	cd07840	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd07829	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	116	cd05581	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd06611	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd06655	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd07852	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	73	cd07843	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	158	cd07842	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd06625	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd07846	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd07831	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd08216	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	85	cd07833	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	72	cd06917	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05593	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05595	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05590	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd05570	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	68	cd05077	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd05037	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	115	cd00192	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05078	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	80	cd05076	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd08217	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd05118	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05620	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05619	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05592	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	57	cd05085	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	58	cd05041	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05040	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd08220	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd05044	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	57	cd05084	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05087	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	67	cd05058	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd05042	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05086	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05571	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	62	cd05582	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05588	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05594	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05591	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05116	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05060	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	83	cd06658	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	99	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	100	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	97	cd07830	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	218	smart00219	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	296	smart00221	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd07835	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd05589	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd05074	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06621	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	64	cd05075	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	75	cd05035	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	71	cd07838	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	65	cd06605	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	92	cd06614	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	85	cd05101	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd07880	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	78	cd06618	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	199	smart00220	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	89	cd06635	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	105	cd05105	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	105	cd05107	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	69	cd06624	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	66	cd06643	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	82	cd05100	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	82	cd05099	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	82	cd05053	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	79	cd06638	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	70	cd07845	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05577	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	106	cd05572	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	176	cd00180	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	74	cd06612	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	63	cd08221	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05579	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	98	cd05123	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	59	cd05115	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	57	cd05608	4503711,NP_000133
2261	120050	Disease	p.Asn540Thr	VAR_004159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004159	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	60	cd05047	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	586	COG0515	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	130	cd05612	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	137	cd07856	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	132	cd07836	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	131	cd06615	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	152	cd06609	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	145	cd06619	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	144	cd06622	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	177	cd06623	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	135	cd08228	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	134	cd06617	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	139	cd07862	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	135	cd07847	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	139	cd06629	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	183	cd05580	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	135	cd08229	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	152	cd07876	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	147	cd07837	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	135	cd06653	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	135	cd06651	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	159	cd06652	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	136	cd08224	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	145	cd06654	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	169	cd05098	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	190	cd05051	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	215	cd05046	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	170	cd05095	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	185	cd05096	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	162	cd05050	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	150	cd06636	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	160	cd05097	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	156	cd05049	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	151	cd05092	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	135	cd06645	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	152	cd05094	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	149	cd05093	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	136	cd05064	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	137	cd05063	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	156	cd05048	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	153	cd05090	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	153	cd05091	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	58	smart00750	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	153	cd07865	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	156	cd05045	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	140	cd07863	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	133	cd07853	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	172	cd07834	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	138	cd07857	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	134	cd05583	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	130	cd05616	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	152	cd08528	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	135	cd08530	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	130	cd05578	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	135	cd05587	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	136	cd08222	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	163	cd05122	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	131	cd05605	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	172	cd06608	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	133	cd06631	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	172	cd08215	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	210	cd06606	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	131	cd06626	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	130	cd08225	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	130	cd08218	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	131	cd08223	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	132	cd06630	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	137	cd06628	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	146	cd07841	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	136	cd06627	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	148	cd06632	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	129	cd07860	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	131	cd07861	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	130	cd05615	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	129	cd08219	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	144	cd07832	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	165	cd05056	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	133	cd07872	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	132	cd07870	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	138	cd07858	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	155	cd07854	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	149	cd05061	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	133	cd05052	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	131	cd05067	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	132	cd05034	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	134	cd05068	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	132	cd05073	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	131	cd05070	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	135	cd05039	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	134	cd05148	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	131	cd05082	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	129	cd05083	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	132	cd05072	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	131	cd05069	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	148	cd05062	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	147	cd05036	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	193	cd05032	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	148	cd05089	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	133	cd07844	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	132	cd07871	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	133	cd07873	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	131	cd05071	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	147	cd07864	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	147	cd07878	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	146	cd06659	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	149	cd07850	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	163	cd07851	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	144	cd06647	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	144	cd06656	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	135	cd06646	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	130	cd06640	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	130	cd06641	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	132	cd06613	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	157	cd05038	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	130	cd06642	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	164	cd06639	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	149	cd07877	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	144	cd06634	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	144	cd06607	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	145	cd06648	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	139	cd06644	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	133	cd05584	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	253	cd05104	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	268	cd05055	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	251	cd05106	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	191	cd05057	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	145	cd06657	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	209	cd05103	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	207	cd05102	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	257	cd05054	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	160	cd07866	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	138	cd05109	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	153	cd05088	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	129	cd05112	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	130	cd05113	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	131	cd05059	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	129	cd05114	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	135	cd05065	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	167	cd05033	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	138	cd05079	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	137	cd05081	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	135	cd05066	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	171	cd05043	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	138	cd05108	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	138	cd05110	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	138	cd05111	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	144	cd06616	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	136	cd05080	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	135	cd08529	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	140	cd06637	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	141	cd06610	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	128	cd07839	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	178	cd07840	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	169	cd07829	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	245	cd05581	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	134	cd06611	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	144	cd06655	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	138	cd07852	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	147	cd07843	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	233	cd07842	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	135	cd06625	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	130	cd07846	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	130	cd07831	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	132	cd08216	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	151	cd07833	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	139	cd06917	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	124	cd05593	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	124	cd05595	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	125	cd05590	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	127	cd05570	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	134	cd05077	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	148	cd05037	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	338	cd00192	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	131	cd05078	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	146	cd05076	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	161	cd08217	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	138	cd05118	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	140	cd05620	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	125	cd05619	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	140	cd05592	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	123	cd05085	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	125	cd05041	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	133	cd05040	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	139	cd08220	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	139	cd05044	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	123	cd05084	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	134	cd05087	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	134	cd05058	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	132	cd05042	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	129	cd05086	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	125	cd05571	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	127	cd05582	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	125	cd05588	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	125	cd05594	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	125	cd05591	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	124	cd05116	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	131	cd05060	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	147	cd06658	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	285	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	220	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	181	cd07830	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	426	smart00219	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	541	smart00221	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	155	cd07835	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	130	cd05589	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	142	cd05074	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	139	cd06621	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	156	cd05075	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	152	cd05035	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	155	cd07838	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	147	cd06605	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	181	cd06614	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	166	cd05101	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	147	cd07880	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	148	cd06618	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	431	smart00220	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	154	cd06635	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	269	cd05105	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	271	cd05107	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	142	cd06624	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	132	cd06643	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	163	cd05100	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	163	cd05099	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	179	cd05053	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	153	cd06638	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	150	cd07845	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	129	cd05577	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	197	cd05572	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	370	cd00180	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	144	cd06612	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	131	cd08221	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	125	cd05579	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	645	cd05123	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	124	cd05115	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	126	cd05608	4503711,NP_000133
2261	120050	Disease	p.Arg621His	VAR_029108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029108	- Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]	SWISS	141	cd05047	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	793	COG0515	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	156_G	cd05612	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd07856	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd07836	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	155	cd06615	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	187	cd06609	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	172	cd06619	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	172	cd06622	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	212	cd06623	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd08228	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	161	cd06617	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	166	cd07862	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	166	cd07847	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd06629	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	227_G	cd05580	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd08229	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	181	cd07876	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	175	cd07837	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	163	cd06653	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	161	cd06651	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	185_G	cd06652	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd08224	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	173	cd06654	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	198	cd05098	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	223	cd05051	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	243	cd05046	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	199	cd05095	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	225	cd05096	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	191	cd05050	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	179	cd06636	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	189	cd05097	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	190	cd05049	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	180	cd05092	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	164	cd06645	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	181	cd05094	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	178	cd05093	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	165	cd05064	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	166	cd05063	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	185	cd05048	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	182	cd05090	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	182	cd05091	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	98	smart00750	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	185	cd07865	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	185	cd05045	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	166	cd07863	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	161	cd07853	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	232	cd07834	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	168	cd07857	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	163	cd05583	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd05616	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	181	cd08528	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	166	cd08530	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	164	cd05578	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	164	cd05587	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	164	cd08222	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	198	cd05122	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159_G	cd05605	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	201	cd06608	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	162	cd06631	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	234_G	cd08215	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	274	cd06606	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	155_G	cd06626	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd08225	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd08218	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd08223	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd06630	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	166	cd06628	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	175	cd07841	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	165	cd06627	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	173_G	cd06632	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	156	cd07860	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159_G	cd07861	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	158	cd05615	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	158	cd08219	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	181_G	cd07832	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	195	cd05056	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd07872	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	158	cd07870	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	168	cd07858	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	184	cd07854	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	178	cd05061	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	161	cd05052	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd05067	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd05034	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	165	cd05068	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	161	cd05073	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd05070	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd05039	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	162	cd05148	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd05082	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	153	cd05083	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd05072	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd05069	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	177	cd05062	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	180	cd05036	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	222	cd05032	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	174	cd05089	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd07844	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd07871	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd07873	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd05071	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	176	cd07864	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	170_G	cd07878	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	174	cd06659	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	177	cd07850	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	189	cd07851	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	172	cd06647	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	172	cd06656	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	164	cd06646	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd06640	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd06641	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	161	cd06613	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	191	cd05038	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd06642	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	193	cd06639	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	172_G	cd07877	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	173	cd06634	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	173	cd06607	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	174	cd06648	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd06644	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	162	cd05584	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	282	cd05104	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	297	cd05055	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	280	cd05106	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	221	cd05057	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	174	cd06657	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	238	cd05103	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	236	cd05102	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	287	cd05054	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	189	cd07866	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167_G	cd05109	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	179	cd05088	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	157	cd05112	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	158	cd05113	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd05059	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	157	cd05114	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd05065	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	200	cd05033	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	168	cd05079	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd05081	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	165	cd05066	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	203	cd05043	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd05108	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd05110	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd05111	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	171	cd06616	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	166	cd05080	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	164	cd08529	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	169	cd06637	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	171	cd06610	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd07839	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	208	cd07840	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	200_G	cd07829	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	390	cd05581	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	162	cd06611	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	172	cd06655	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd07852	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	171_G	cd07843	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	268	cd07842	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	161	cd06625	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	161	cd07846	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	155_G	cd07831	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd08216	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	193	cd07833	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	170	cd06917	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	153	cd05593	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	153	cd05595	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	154	cd05590	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	154	cd05570	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	166	cd05077	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	183	cd05037	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	387	cd00192	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	168	cd05078	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	180	cd05076	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	237_G	cd08217	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	171	cd05118	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	169	cd05620	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	152	cd05619	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	169	cd05592	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	151	cd05085	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	154	cd05041	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd05040	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd08220	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	175	cd05044	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	152	cd05084	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	163	cd05087	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	163	cd05058	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	161	cd05042	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	158	cd05086	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	152	cd05571	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	154	cd05582	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	152	cd05588	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	154	cd05594	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	154	cd05591	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	154	cd05116	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	161	cd05060	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	176	cd06658	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	336	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	285	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	241_G	cd07830	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	528	smart00219	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	695	smart00221	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	184_G	cd07835	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	157	cd05589	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	171	cd05074	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	175_G	cd06621	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	185	cd05075	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	181	cd05035	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	179	cd07838	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	175	cd06605	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	199_G	cd06614	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	195	cd05101	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	170_G	cd07880	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	174	cd06618	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	661	smart00220	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	183	cd06635	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	298	cd05105	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	300	cd05107	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	172	cd06624	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	165	cd06643	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	192	cd05100	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	192	cd05099	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	208	cd05053	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	182	cd06638	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	179	cd07845	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	155	cd05577	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	227	cd05572	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	616	cd00180	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	174	cd06612	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	162	cd08221	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	150	cd05579	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	674	cd05123	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	154	cd05115	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	153	cd05608	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd05047	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	793	COG0515	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	156_G	cd05612	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd07856	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd07836	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	155	cd06615	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	187	cd06609	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	172	cd06619	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	172	cd06622	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	212	cd06623	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd08228	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	161	cd06617	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	166	cd07862	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	166	cd07847	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd06629	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	227_G	cd05580	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd08229	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	181	cd07876	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	175	cd07837	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	163	cd06653	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	161	cd06651	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	185_G	cd06652	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd08224	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	173	cd06654	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	198	cd05098	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	223	cd05051	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	243	cd05046	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	199	cd05095	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	225	cd05096	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	191	cd05050	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	179	cd06636	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	189	cd05097	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	190	cd05049	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	180	cd05092	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	164	cd06645	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	181	cd05094	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	178	cd05093	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	165	cd05064	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	166	cd05063	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	185	cd05048	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	182	cd05090	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	182	cd05091	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	98	smart00750	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	185	cd07865	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	185	cd05045	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	166	cd07863	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	161	cd07853	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	232	cd07834	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	168	cd07857	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	163	cd05583	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd05616	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	181	cd08528	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	166	cd08530	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	164	cd05578	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	164	cd05587	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	164	cd08222	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	198	cd05122	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159_G	cd05605	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	201	cd06608	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	162	cd06631	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	234_G	cd08215	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	274	cd06606	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	155_G	cd06626	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd08225	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd08218	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd08223	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd06630	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	166	cd06628	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	175	cd07841	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	165	cd06627	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	173_G	cd06632	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	156	cd07860	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159_G	cd07861	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	158	cd05615	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	158	cd08219	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	181_G	cd07832	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	195	cd05056	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd07872	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	158	cd07870	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	168	cd07858	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	184	cd07854	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	178	cd05061	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	161	cd05052	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd05067	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd05034	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	165	cd05068	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	161	cd05073	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd05070	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd05039	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	162	cd05148	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd05082	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	153	cd05083	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd05072	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd05069	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	177	cd05062	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	180	cd05036	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	222	cd05032	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	174	cd05089	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd07844	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd07871	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd07873	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd05071	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	176	cd07864	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	170_G	cd07878	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	174	cd06659	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	177	cd07850	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	189	cd07851	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	172	cd06647	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	172	cd06656	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	164	cd06646	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd06640	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd06641	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	161	cd06613	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	191	cd05038	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd06642	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	193	cd06639	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	172_G	cd07877	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	173	cd06634	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	173	cd06607	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	174	cd06648	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd06644	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	162	cd05584	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	282	cd05104	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	297	cd05055	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	280	cd05106	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	221	cd05057	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	174	cd06657	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	238	cd05103	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	236	cd05102	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	287	cd05054	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	189	cd07866	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167_G	cd05109	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	179	cd05088	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	157	cd05112	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	158	cd05113	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd05059	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	157	cd05114	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd05065	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	200	cd05033	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	168	cd05079	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd05081	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	165	cd05066	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	203	cd05043	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd05108	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd05110	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd05111	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	171	cd06616	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	166	cd05080	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	164	cd08529	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	169	cd06637	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	171	cd06610	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd07839	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	208	cd07840	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	200_G	cd07829	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	390	cd05581	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	162	cd06611	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	172	cd06655	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd07852	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	171_G	cd07843	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	268	cd07842	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	161	cd06625	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	161	cd07846	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	155_G	cd07831	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd08216	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	193	cd07833	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	170	cd06917	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	153	cd05593	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	153	cd05595	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	154	cd05590	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	154	cd05570	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	166	cd05077	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	183	cd05037	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	387	cd00192	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	168	cd05078	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	180	cd05076	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	237_G	cd08217	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	171	cd05118	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	169	cd05620	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	152	cd05619	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	169	cd05592	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	151	cd05085	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	154	cd05041	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd05040	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd08220	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	175	cd05044	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	152	cd05084	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	163	cd05087	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	163	cd05058	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	161	cd05042	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	158	cd05086	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	152	cd05571	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	154	cd05582	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	152	cd05588	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	154	cd05594	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	154	cd05591	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	154	cd05116	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	161	cd05060	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	176	cd06658	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	336	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	285	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	241_G	cd07830	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	528	smart00219	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	695	smart00221	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	184_G	cd07835	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	157	cd05589	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	171	cd05074	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	175_G	cd06621	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	185	cd05075	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	181	cd05035	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	179	cd07838	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	175	cd06605	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	199_G	cd06614	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	195	cd05101	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	170_G	cd07880	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	174	cd06618	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	661	smart00220	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	183	cd06635	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	298	cd05105	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	300	cd05107	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	172	cd06624	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	165	cd06643	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	192	cd05100	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	192	cd05099	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	208	cd05053	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	182	cd06638	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	179	cd07845	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	155	cd05577	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	227	cd05572	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	616	cd00180	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	174	cd06612	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	162	cd08221	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	150	cd05579	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	674	cd05123	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	154	cd05115	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	153	cd05608	4503711,NP_000133
2261	120050	Disease	p.Lys650Glu	VAR_004160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004160	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd05047	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	793	COG0515	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	156_G	cd05612	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	167	cd07856	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	159	cd07836	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	155	cd06615	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	187	cd06609	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	172	cd06619	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	172	cd06622	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	212	cd06623	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	159	cd08228	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	161	cd06617	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	166	cd07862	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	166	cd07847	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	167	cd06629	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	227_G	cd05580	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	159	cd08229	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	181	cd07876	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	175	cd07837	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	163	cd06653	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	161	cd06651	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	185_G	cd06652	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	160	cd08224	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	173	cd06654	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	198	cd05098	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	223	cd05051	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	243	cd05046	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	199	cd05095	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	225	cd05096	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	191	cd05050	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	179	cd06636	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	189	cd05097	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	190	cd05049	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	180	cd05092	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	164	cd06645	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	181	cd05094	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	178	cd05093	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	165	cd05064	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	166	cd05063	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	185	cd05048	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	182	cd05090	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	182	cd05091	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	98	smart00750	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	185	cd07865	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	185	cd05045	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	166	cd07863	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	161	cd07853	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	232	cd07834	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	168	cd07857	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	163	cd05583	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	159	cd05616	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	181	cd08528	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	166	cd08530	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	164	cd05578	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	164	cd05587	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	164	cd08222	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	198	cd05122	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	159_G	cd05605	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	201	cd06608	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	162	cd06631	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	234_G	cd08215	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	274	cd06606	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	155_G	cd06626	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	160	cd08225	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	159	cd08218	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	160	cd08223	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	159	cd06630	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	166	cd06628	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	175	cd07841	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	165	cd06627	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	173_G	cd06632	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	156	cd07860	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	159_G	cd07861	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	158	cd05615	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	158	cd08219	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	181_G	cd07832	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	195	cd05056	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	160	cd07872	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	158	cd07870	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	168	cd07858	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	184	cd07854	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	178	cd05061	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	161	cd05052	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	160	cd05067	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	167	cd05034	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	165	cd05068	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	161	cd05073	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	160	cd05070	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	160	cd05039	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	162	cd05148	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	160	cd05082	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	153	cd05083	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	160	cd05072	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	160	cd05069	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	177	cd05062	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	180	cd05036	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	222	cd05032	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	174	cd05089	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	159	cd07844	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	159	cd07871	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	160	cd07873	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	160	cd05071	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	176	cd07864	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	170_G	cd07878	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	174	cd06659	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	177	cd07850	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	189	cd07851	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	172	cd06647	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	172	cd06656	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	164	cd06646	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	159	cd06640	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	159	cd06641	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	161	cd06613	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	191	cd05038	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	159	cd06642	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	193	cd06639	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	172_G	cd07877	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	173	cd06634	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	173	cd06607	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	174	cd06648	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	167	cd06644	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	162	cd05584	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	282	cd05104	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	297	cd05055	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	280	cd05106	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	221	cd05057	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	174	cd06657	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	238	cd05103	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	236	cd05102	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	287	cd05054	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	189	cd07866	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	167_G	cd05109	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	179	cd05088	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	157	cd05112	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	158	cd05113	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	159	cd05059	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	157	cd05114	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	167	cd05065	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	200	cd05033	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	168	cd05079	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	167	cd05081	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	165	cd05066	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	203	cd05043	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	167	cd05108	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	167	cd05110	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	167	cd05111	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	171	cd06616	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	166	cd05080	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	164	cd08529	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	169	cd06637	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	171	cd06610	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	159	cd07839	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	208	cd07840	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	200_G	cd07829	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	390	cd05581	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	162	cd06611	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	172	cd06655	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	167	cd07852	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	171_G	cd07843	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	268	cd07842	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	161	cd06625	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	161	cd07846	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	155_G	cd07831	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	167	cd08216	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	193	cd07833	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	170	cd06917	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	153	cd05593	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	153	cd05595	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	154	cd05590	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	154	cd05570	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	166	cd05077	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	183	cd05037	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	387	cd00192	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	168	cd05078	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	180	cd05076	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	237_G	cd08217	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	171	cd05118	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	169	cd05620	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	152	cd05619	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	169	cd05592	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	151	cd05085	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	154	cd05041	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	167	cd05040	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	167	cd08220	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	175	cd05044	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	152	cd05084	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	163	cd05087	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	163	cd05058	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	161	cd05042	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	158	cd05086	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	152	cd05571	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	154	cd05582	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	152	cd05588	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	154	cd05594	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	154	cd05591	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	154	cd05116	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	161	cd05060	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	176	cd06658	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	336	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	285	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	241_G	cd07830	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	528	smart00219	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	695	smart00221	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	184_G	cd07835	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	157	cd05589	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	171	cd05074	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	175_G	cd06621	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	185	cd05075	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	181	cd05035	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	179	cd07838	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	175	cd06605	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	199_G	cd06614	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	195	cd05101	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	170_G	cd07880	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	174	cd06618	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	661	smart00220	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	183	cd06635	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	298	cd05105	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	300	cd05107	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	172	cd06624	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	165	cd06643	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	192	cd05100	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	192	cd05099	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	208	cd05053	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	182	cd06638	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	179	cd07845	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	155	cd05577	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	227	cd05572	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	616	cd00180	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	174	cd06612	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	162	cd08221	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	150	cd05579	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	674	cd05123	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	154	cd05115	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	153	cd05608	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Achondroplasia (ACH) [MIM:100800]	SWISS	167	cd05047	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	793	COG0515	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	156_G	cd05612	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd07856	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd07836	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	155	cd06615	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	187	cd06609	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	172	cd06619	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	172	cd06622	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	212	cd06623	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd08228	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	161	cd06617	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	166	cd07862	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	166	cd07847	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd06629	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	227_G	cd05580	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd08229	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	181	cd07876	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	175	cd07837	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	163	cd06653	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	161	cd06651	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	185_G	cd06652	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd08224	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	173	cd06654	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	198	cd05098	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	223	cd05051	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	243	cd05046	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	199	cd05095	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	225	cd05096	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	191	cd05050	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	179	cd06636	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	189	cd05097	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	190	cd05049	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	180	cd05092	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	164	cd06645	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	181	cd05094	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	178	cd05093	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	165	cd05064	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	166	cd05063	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	185	cd05048	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	182	cd05090	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	182	cd05091	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	98	smart00750	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	185	cd07865	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	185	cd05045	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	166	cd07863	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	161	cd07853	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	232	cd07834	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	168	cd07857	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	163	cd05583	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd05616	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	181	cd08528	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	166	cd08530	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	164	cd05578	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	164	cd05587	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	164	cd08222	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	198	cd05122	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159_G	cd05605	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	201	cd06608	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	162	cd06631	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	234_G	cd08215	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	274	cd06606	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	155_G	cd06626	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd08225	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd08218	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd08223	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd06630	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	166	cd06628	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	175	cd07841	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	165	cd06627	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	173_G	cd06632	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	156	cd07860	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159_G	cd07861	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	158	cd05615	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	158	cd08219	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	181_G	cd07832	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	195	cd05056	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd07872	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	158	cd07870	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	168	cd07858	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	184	cd07854	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	178	cd05061	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	161	cd05052	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd05067	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd05034	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	165	cd05068	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	161	cd05073	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd05070	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd05039	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	162	cd05148	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd05082	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	153	cd05083	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd05072	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd05069	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	177	cd05062	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	180	cd05036	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	222	cd05032	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	174	cd05089	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd07844	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd07871	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd07873	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	160	cd05071	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	176	cd07864	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	170_G	cd07878	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	174	cd06659	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	177	cd07850	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	189	cd07851	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	172	cd06647	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	172	cd06656	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	164	cd06646	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd06640	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd06641	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	161	cd06613	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	191	cd05038	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd06642	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	193	cd06639	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	172_G	cd07877	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	173	cd06634	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	173	cd06607	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	174	cd06648	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd06644	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	162	cd05584	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	282	cd05104	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	297	cd05055	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	280	cd05106	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	221	cd05057	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	174	cd06657	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	238	cd05103	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	236	cd05102	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	287	cd05054	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	189	cd07866	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167_G	cd05109	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	179	cd05088	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	157	cd05112	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	158	cd05113	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd05059	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	157	cd05114	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd05065	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	200	cd05033	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	168	cd05079	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd05081	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	165	cd05066	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	203	cd05043	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd05108	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd05110	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd05111	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	171	cd06616	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	166	cd05080	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	164	cd08529	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	169	cd06637	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	171	cd06610	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	159	cd07839	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	208	cd07840	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	200_G	cd07829	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	390	cd05581	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	162	cd06611	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	172	cd06655	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd07852	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	171_G	cd07843	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	268	cd07842	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	161	cd06625	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	161	cd07846	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	155_G	cd07831	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd08216	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	193	cd07833	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	170	cd06917	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	153	cd05593	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	153	cd05595	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	154	cd05590	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	154	cd05570	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	166	cd05077	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	183	cd05037	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	387	cd00192	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	168	cd05078	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	180	cd05076	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	237_G	cd08217	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	171	cd05118	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	169	cd05620	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	152	cd05619	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	169	cd05592	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	151	cd05085	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	154	cd05041	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd05040	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd08220	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	175	cd05044	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	152	cd05084	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	163	cd05087	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	163	cd05058	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	161	cd05042	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	158	cd05086	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	152	cd05571	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	154	cd05582	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	152	cd05588	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	154	cd05594	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	154	cd05591	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	154	cd05116	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	161	cd05060	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	176	cd06658	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	336	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	285	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	241_G	cd07830	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	528	smart00219	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	695	smart00221	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	184_G	cd07835	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	157	cd05589	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	171	cd05074	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	175_G	cd06621	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	185	cd05075	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	181	cd05035	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	179	cd07838	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	175	cd06605	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	199_G	cd06614	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	195	cd05101	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	170_G	cd07880	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	174	cd06618	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	661	smart00220	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	183	cd06635	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	298	cd05105	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	300	cd05107	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	172	cd06624	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	165	cd06643	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	192	cd05100	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	192	cd05099	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	208	cd05053	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	182	cd06638	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	179	cd07845	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	155	cd05577	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	227	cd05572	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	616	cd00180	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	174	cd06612	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	162	cd08221	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	150	cd05579	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	674	cd05123	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	154	cd05115	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	153	cd05608	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	167	cd05047	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	793	COG0515	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	156_G	cd05612	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd07856	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd07836	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	155	cd06615	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	187	cd06609	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	172	cd06619	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	172	cd06622	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	212	cd06623	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd08228	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	161	cd06617	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	166	cd07862	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	166	cd07847	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd06629	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	227_G	cd05580	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd08229	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	181	cd07876	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	175	cd07837	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	163	cd06653	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	161	cd06651	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	185_G	cd06652	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd08224	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	173	cd06654	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	198	cd05098	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	223	cd05051	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	243	cd05046	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	199	cd05095	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	225	cd05096	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	191	cd05050	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	179	cd06636	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	189	cd05097	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	190	cd05049	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	180	cd05092	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	164	cd06645	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	181	cd05094	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	178	cd05093	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	165	cd05064	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	166	cd05063	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	185	cd05048	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	182	cd05090	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	182	cd05091	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	98	smart00750	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	185	cd07865	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	185	cd05045	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	166	cd07863	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	161	cd07853	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	232	cd07834	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	168	cd07857	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	163	cd05583	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd05616	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	181	cd08528	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	166	cd08530	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	164	cd05578	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	164	cd05587	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	164	cd08222	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	198	cd05122	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159_G	cd05605	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	201	cd06608	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	162	cd06631	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	234_G	cd08215	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	274	cd06606	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	155_G	cd06626	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd08225	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd08218	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd08223	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd06630	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	166	cd06628	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	175	cd07841	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	165	cd06627	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	173_G	cd06632	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	156	cd07860	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159_G	cd07861	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	158	cd05615	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	158	cd08219	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	181_G	cd07832	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	195	cd05056	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd07872	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	158	cd07870	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	168	cd07858	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	184	cd07854	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	178	cd05061	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	161	cd05052	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd05067	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd05034	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	165	cd05068	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	161	cd05073	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd05070	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd05039	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	162	cd05148	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd05082	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	153	cd05083	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd05072	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd05069	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	177	cd05062	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	180	cd05036	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	222	cd05032	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	174	cd05089	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd07844	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd07871	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd07873	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	160	cd05071	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	176	cd07864	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	170_G	cd07878	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	174	cd06659	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	177	cd07850	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	189	cd07851	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	172	cd06647	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	172	cd06656	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	164	cd06646	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd06640	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd06641	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	161	cd06613	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	191	cd05038	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd06642	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	193	cd06639	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	172_G	cd07877	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	173	cd06634	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	173	cd06607	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	174	cd06648	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd06644	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	162	cd05584	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	282	cd05104	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	297	cd05055	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	280	cd05106	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	221	cd05057	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	174	cd06657	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	238	cd05103	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	236	cd05102	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	287	cd05054	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	189	cd07866	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167_G	cd05109	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	179	cd05088	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	157	cd05112	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	158	cd05113	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd05059	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	157	cd05114	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd05065	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	200	cd05033	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	168	cd05079	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd05081	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	165	cd05066	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	203	cd05043	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd05108	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd05110	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd05111	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	171	cd06616	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	166	cd05080	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	164	cd08529	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	169	cd06637	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	171	cd06610	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	159	cd07839	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	208	cd07840	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	200_G	cd07829	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	390	cd05581	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	162	cd06611	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	172	cd06655	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd07852	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	171_G	cd07843	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	268	cd07842	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	161	cd06625	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	161	cd07846	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	155_G	cd07831	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd08216	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	193	cd07833	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	170	cd06917	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	153	cd05593	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	153	cd05595	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	154	cd05590	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	154	cd05570	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	166	cd05077	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	183	cd05037	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	387	cd00192	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	168	cd05078	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	180	cd05076	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	237_G	cd08217	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	171	cd05118	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	169	cd05620	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	152	cd05619	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	169	cd05592	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	151	cd05085	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	154	cd05041	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd05040	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd08220	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	175	cd05044	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	152	cd05084	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	163	cd05087	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	163	cd05058	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	161	cd05042	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	158	cd05086	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	152	cd05571	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	154	cd05582	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	152	cd05588	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	154	cd05594	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	154	cd05591	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	154	cd05116	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	161	cd05060	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	176	cd06658	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	336	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	285	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	241_G	cd07830	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	528	smart00219	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	695	smart00221	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	184_G	cd07835	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	157	cd05589	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	171	cd05074	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	175_G	cd06621	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	185	cd05075	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	181	cd05035	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	179	cd07838	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	175	cd06605	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	199_G	cd06614	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	195	cd05101	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	170_G	cd07880	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	174	cd06618	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	661	smart00220	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	183	cd06635	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	298	cd05105	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	300	cd05107	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	172	cd06624	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	165	cd06643	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	192	cd05100	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	192	cd05099	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	208	cd05053	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	182	cd06638	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	179	cd07845	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	155	cd05577	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	227	cd05572	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	616	cd00180	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	174	cd06612	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	162	cd08221	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	150	cd05579	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	674	cd05123	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	154	cd05115	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	153	cd05608	4503711,NP_000133
2261	120050	Disease	p.Lys650Met	VAR_004161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004161	- Thanatophoric dysplasia type (TD) [MIM:187600, 187601]	SWISS	167	cd05047	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	793	COG0515	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	156_G	cd05612	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	167	cd07856	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	159	cd07836	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	155	cd06615	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	187	cd06609	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	172	cd06619	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	172	cd06622	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	212	cd06623	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	159	cd08228	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	161	cd06617	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	166	cd07862	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	166	cd07847	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	167	cd06629	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	227_G	cd05580	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	159	cd08229	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	181	cd07876	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	175	cd07837	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	163	cd06653	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	161	cd06651	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	185_G	cd06652	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	160	cd08224	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	173	cd06654	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	198	cd05098	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	223	cd05051	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	243	cd05046	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	199	cd05095	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	225	cd05096	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	191	cd05050	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	179	cd06636	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	189	cd05097	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	190	cd05049	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	180	cd05092	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	164	cd06645	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	181	cd05094	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	178	cd05093	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	165	cd05064	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	166	cd05063	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	185	cd05048	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	182	cd05090	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	182	cd05091	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	98	smart00750	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	185	cd07865	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	185	cd05045	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	166	cd07863	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	161	cd07853	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	232	cd07834	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	168	cd07857	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	163	cd05583	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	159	cd05616	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	181	cd08528	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	166	cd08530	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	164	cd05578	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	164	cd05587	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	164	cd08222	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	198	cd05122	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	159_G	cd05605	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	201	cd06608	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	162	cd06631	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	234_G	cd08215	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	274	cd06606	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	155_G	cd06626	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	160	cd08225	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	159	cd08218	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	160	cd08223	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	159	cd06630	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	166	cd06628	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	175	cd07841	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	165	cd06627	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	173_G	cd06632	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	156	cd07860	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	159_G	cd07861	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	158	cd05615	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	158	cd08219	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	181_G	cd07832	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	195	cd05056	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	160	cd07872	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	158	cd07870	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	168	cd07858	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	184	cd07854	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	178	cd05061	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	161	cd05052	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	160	cd05067	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	167	cd05034	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	165	cd05068	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	161	cd05073	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	160	cd05070	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	160	cd05039	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	162	cd05148	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	160	cd05082	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	153	cd05083	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	160	cd05072	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	160	cd05069	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	177	cd05062	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	180	cd05036	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	222	cd05032	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	174	cd05089	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	159	cd07844	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	159	cd07871	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	160	cd07873	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	160	cd05071	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	176	cd07864	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	170_G	cd07878	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	174	cd06659	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	177	cd07850	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	189	cd07851	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	172	cd06647	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	172	cd06656	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	164	cd06646	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	159	cd06640	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	159	cd06641	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	161	cd06613	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	191	cd05038	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	159	cd06642	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	193	cd06639	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	172_G	cd07877	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	173	cd06634	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	173	cd06607	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	174	cd06648	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	167	cd06644	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	162	cd05584	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	282	cd05104	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	297	cd05055	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	280	cd05106	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	221	cd05057	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	174	cd06657	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	238	cd05103	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	236	cd05102	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	287	cd05054	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	189	cd07866	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	167_G	cd05109	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	179	cd05088	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	157	cd05112	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	158	cd05113	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	159	cd05059	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	157	cd05114	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	167	cd05065	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	200	cd05033	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	168	cd05079	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	167	cd05081	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	165	cd05066	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	203	cd05043	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	167	cd05108	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	167	cd05110	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	167	cd05111	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	171	cd06616	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	166	cd05080	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	164	cd08529	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	169	cd06637	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	171	cd06610	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	159	cd07839	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	208	cd07840	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	200_G	cd07829	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	390	cd05581	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	162	cd06611	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	172	cd06655	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	167	cd07852	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	171_G	cd07843	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	268	cd07842	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	161	cd06625	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	161	cd07846	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	155_G	cd07831	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	167	cd08216	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	193	cd07833	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	170	cd06917	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	153	cd05593	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	153	cd05595	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	154	cd05590	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	154	cd05570	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	166	cd05077	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	183	cd05037	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	387	cd00192	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	168	cd05078	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	180	cd05076	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	237_G	cd08217	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	171	cd05118	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	169	cd05620	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	152	cd05619	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	169	cd05592	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	151	cd05085	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	154	cd05041	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	167	cd05040	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	167	cd08220	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	175	cd05044	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	152	cd05084	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	163	cd05087	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	163	cd05058	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	161	cd05042	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	158	cd05086	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	152	cd05571	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	154	cd05582	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	152	cd05588	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	154	cd05594	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	154	cd05591	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	154	cd05116	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	161	cd05060	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	176	cd06658	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	336	pfam07714	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	285	pfam00069	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	241_G	cd07830	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	528	smart00219	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	695	smart00221	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	184_G	cd07835	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	157	cd05589	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	171	cd05074	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	175_G	cd06621	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	185	cd05075	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	181	cd05035	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	179	cd07838	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	175	cd06605	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	199_G	cd06614	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	195	cd05101	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	170_G	cd07880	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	174	cd06618	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	661	smart00220	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	183	cd06635	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	298	cd05105	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	300	cd05107	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	172	cd06624	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	165	cd06643	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	192	cd05100	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	192	cd05099	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	208	cd05053	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	182	cd06638	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	179	cd07845	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	155	cd05577	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	227	cd05572	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	616	cd00180	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	174	cd06612	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	162	cd08221	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	150	cd05579	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	674	cd05123	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	154	cd05115	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	153	cd05608	4503711,NP_000133
2261	120050	Disease	p.Lys650Gln	VAR_018390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018390	- Hypochondroplasia (HCH) [MIM:146000]	SWISS	167	cd05047	4503711,NP_000133
2271	1730117	Disease	p.Asn107Thr	VAR_013497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013497	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	57	cd01362	19743875,NP_000134
2271	1730117	Disease	p.Asn107Thr	VAR_013497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013497	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	57	cd01596	19743875,NP_000134
2271	1730117	Disease	p.Asn107Thr	VAR_013497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013497	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	57	cd01357	19743875,NP_000134
2271	1730117	Disease	p.Asn107Thr	VAR_013497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013497	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	50	pfam00206	19743875,NP_000134
2271	1730117	Disease	p.Asn107Thr	VAR_013497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013497	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	60	COG0114	19743875,NP_000134
2271	1730117	Disease	p.Asn107Thr	VAR_013497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013497	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	61	COG1027	19743875,NP_000134
2271	1730117	Disease	p.Asn107Thr	VAR_013497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013497	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	15	cd01594	19743875,NP_000134
2271	1730117	Disease	p.Asn107Thr	VAR_013497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013497	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	15	cd01334	19743875,NP_000134
2271	1730117	Disease	p.Asn107Thr	VAR_013497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013497	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	2	COG0015	19743875,NP_000134
2271	1730117	Disease	p.Ala117Pro	VAR_013498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013498	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	76	cd01362	19743875,NP_000134
2271	1730117	Disease	p.Ala117Pro	VAR_013498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013498	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	76	cd01596	19743875,NP_000134
2271	1730117	Disease	p.Ala117Pro	VAR_013498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013498	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	68	cd01357	19743875,NP_000134
2271	1730117	Disease	p.Ala117Pro	VAR_013498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013498	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	61	pfam00206	19743875,NP_000134
2271	1730117	Disease	p.Ala117Pro	VAR_013498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013498	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	71	COG0114	19743875,NP_000134
2271	1730117	Disease	p.Ala117Pro	VAR_013498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013498	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	72	COG1027	19743875,NP_000134
2271	1730117	Disease	p.Ala117Pro	VAR_013498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013498	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	26	cd01594	19743875,NP_000134
2271	1730117	Disease	p.Ala117Pro	VAR_013498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013498	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	39	cd01334	19743875,NP_000134
2271	1730117	Disease	p.Ala117Pro	VAR_013498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013498	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	17	COG0015	19743875,NP_000134
2271	1730117	Disease	p.His180Arg	VAR_013499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013499	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	84	cd01360	19743875,NP_000134
2271	1730117	Disease	p.His180Arg	VAR_013499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013499	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	143	cd01362	19743875,NP_000134
2271	1730117	Disease	p.His180Arg	VAR_013499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013499	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	143	cd01596	19743875,NP_000134
2271	1730117	Disease	p.His180Arg	VAR_013499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013499	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	133	cd01357	19743875,NP_000134
2271	1730117	Disease	p.His180Arg	VAR_013499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013499	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	125	pfam00206	19743875,NP_000134
2271	1730117	Disease	p.His180Arg	VAR_013499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013499	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	48	cd01595	19743875,NP_000134
2271	1730117	Disease	p.His180Arg	VAR_013499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013499	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	134	COG0114	19743875,NP_000134
2271	1730117	Disease	p.His180Arg	VAR_013499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013499	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	136	COG1027	19743875,NP_000134
2271	1730117	Disease	p.His180Arg	VAR_013499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013499	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	150	cd01594	19743875,NP_000134
2271	1730117	Disease	p.His180Arg	VAR_013499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013499	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	106	cd01334	19743875,NP_000134
2271	1730117	Disease	p.His180Arg	VAR_013499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013499	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	113	COG0015	19743875,NP_000134
2271	1730117	Disease	p.His180Arg	VAR_013499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013499	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	50	cd03302	19743875,NP_000134
2271	1730117	Disease	p.His180Arg	VAR_013499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013499	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	62	cd01597	19743875,NP_000134
2271	1730117	Disease	p.Gln185Arg	VAR_013500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013500	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	89	cd01360	19743875,NP_000134
2271	1730117	Disease	p.Gln185Arg	VAR_013500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013500	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	148	cd01362	19743875,NP_000134
2271	1730117	Disease	p.Gln185Arg	VAR_013500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013500	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	148	cd01596	19743875,NP_000134
2271	1730117	Disease	p.Gln185Arg	VAR_013500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013500	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	138	cd01357	19743875,NP_000134
2271	1730117	Disease	p.Gln185Arg	VAR_013500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013500	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	130	pfam00206	19743875,NP_000134
2271	1730117	Disease	p.Gln185Arg	VAR_013500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013500	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	53	cd01595	19743875,NP_000134
2271	1730117	Disease	p.Gln185Arg	VAR_013500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013500	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	139	COG0114	19743875,NP_000134
2271	1730117	Disease	p.Gln185Arg	VAR_013500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013500	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	141	COG1027	19743875,NP_000134
2271	1730117	Disease	p.Gln185Arg	VAR_013500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013500	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	155	cd01594	19743875,NP_000134
2271	1730117	Disease	p.Gln185Arg	VAR_013500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013500	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	111	cd01334	19743875,NP_000134
2271	1730117	Disease	p.Gln185Arg	VAR_013500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013500	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	126	COG0015	19743875,NP_000134
2271	1730117	Disease	p.Gln185Arg	VAR_013500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013500	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	55	cd03302	19743875,NP_000134
2271	1730117	Disease	p.Gln185Arg	VAR_013500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013500	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	67	cd01597	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	149	cd01360	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	195	cd01362	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	195	cd01596	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	182	cd01357	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	175	pfam00206	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	170	cd01595	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	184	COG0114	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	186	COG1027	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	201	cd01594	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	159	cd01334	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	168	COG0015	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	144	cd03302	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	152	cd01597	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	149	cd01360	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	195	cd01362	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	195	cd01596	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	182	cd01357	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	175	pfam00206	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	170	cd01595	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	184	COG0114	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	186	COG1027	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	201	cd01594	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	159	cd01334	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	168	COG0015	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	144	cd03302	19743875,NP_000134
2271	1730117	Disease	p.Lys230Arg	VAR_002445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002445	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	152	cd01597	19743875,NP_000134
2271	1730117	Disease	p.Arg233His	VAR_013501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013501	rs28933069 Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	152	cd01360	19743875,NP_000134
2271	1730117	Disease	p.Arg233His	VAR_013501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013501	rs28933069 Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	198	cd01362	19743875,NP_000134
2271	1730117	Disease	p.Arg233His	VAR_013501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013501	rs28933069 Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	198	cd01596	19743875,NP_000134
2271	1730117	Disease	p.Arg233His	VAR_013501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013501	rs28933069 Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	185	cd01357	19743875,NP_000134
2271	1730117	Disease	p.Arg233His	VAR_013501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013501	rs28933069 Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	178	pfam00206	19743875,NP_000134
2271	1730117	Disease	p.Arg233His	VAR_013501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013501	rs28933069 Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	173	cd01595	19743875,NP_000134
2271	1730117	Disease	p.Arg233His	VAR_013501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013501	rs28933069 Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	187	COG0114	19743875,NP_000134
2271	1730117	Disease	p.Arg233His	VAR_013501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013501	rs28933069 Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	189	COG1027	19743875,NP_000134
2271	1730117	Disease	p.Arg233His	VAR_013501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013501	rs28933069 Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	204	cd01594	19743875,NP_000134
2271	1730117	Disease	p.Arg233His	VAR_013501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013501	rs28933069 Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	162	cd01334	19743875,NP_000134
2271	1730117	Disease	p.Arg233His	VAR_013501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013501	rs28933069 Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	171	COG0015	19743875,NP_000134
2271	1730117	Disease	p.Arg233His	VAR_013501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013501	rs28933069 Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	147	cd03302	19743875,NP_000134
2271	1730117	Disease	p.Arg233His	VAR_013501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013501	rs28933069 Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	155	cd01597	19743875,NP_000134
2271	1730117	Disease	p.Gly282Val	VAR_013502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013502	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	200	cd01360	19743875,NP_000134
2271	1730117	Disease	p.Gly282Val	VAR_013502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013502	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	247	cd01362	19743875,NP_000134
2271	1730117	Disease	p.Gly282Val	VAR_013502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013502	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	248	cd01596	19743875,NP_000134
2271	1730117	Disease	p.Gly282Val	VAR_013502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013502	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	235	cd01357	19743875,NP_000134
2271	1730117	Disease	p.Gly282Val	VAR_013502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013502	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	228	pfam00206	19743875,NP_000134
2271	1730117	Disease	p.Gly282Val	VAR_013502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013502	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	223	cd01595	19743875,NP_000134
2271	1730117	Disease	p.Gly282Val	VAR_013502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013502	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	236	COG0114	19743875,NP_000134
2271	1730117	Disease	p.Gly282Val	VAR_013502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013502	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	239	COG1027	19743875,NP_000134
2271	1730117	Disease	p.Gly282Val	VAR_013502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013502	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	329	cd01594	19743875,NP_000134
2271	1730117	Disease	p.Gly282Val	VAR_013502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013502	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	213	cd01334	19743875,NP_000134
2271	1730117	Disease	p.Gly282Val	VAR_013502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013502	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	220	COG0015	19743875,NP_000134
2271	1730117	Disease	p.Gly282Val	VAR_013502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013502	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	196	cd03302	19743875,NP_000134
2271	1730117	Disease	p.Gly282Val	VAR_013502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013502	- Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]	SWISS	206	cd01597	19743875,NP_000134
2271	1730117	Disease	p.Ala308Thr	VAR_002446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002446	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	226	cd01360	19743875,NP_000134
2271	1730117	Disease	p.Ala308Thr	VAR_002446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002446	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	274	cd01362	19743875,NP_000134
2271	1730117	Disease	p.Ala308Thr	VAR_002446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002446	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	275	cd01596	19743875,NP_000134
2271	1730117	Disease	p.Ala308Thr	VAR_002446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002446	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	261	cd01357	19743875,NP_000134
2271	1730117	Disease	p.Ala308Thr	VAR_002446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002446	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	257	pfam00206	19743875,NP_000134
2271	1730117	Disease	p.Ala308Thr	VAR_002446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002446	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	257	cd01595	19743875,NP_000134
2271	1730117	Disease	p.Ala308Thr	VAR_002446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002446	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	263	COG0114	19743875,NP_000134
2271	1730117	Disease	p.Ala308Thr	VAR_002446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002446	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	265	COG1027	19743875,NP_000134
2271	1730117	Disease	p.Ala308Thr	VAR_002446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002446	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	366	cd01594	19743875,NP_000134
2271	1730117	Disease	p.Ala308Thr	VAR_002446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002446	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	250	cd01334	19743875,NP_000134
2271	1730117	Disease	p.Ala308Thr	VAR_002446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002446	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	256	COG0015	19743875,NP_000134
2271	1730117	Disease	p.Ala308Thr	VAR_002446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002446	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	234	cd03302	19743875,NP_000134
2271	1730117	Disease	p.Ala308Thr	VAR_002446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002446	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	236	cd01597	19743875,NP_000134
2271	1730117	Disease	p.Phe312Cys	VAR_002447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002447	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	228_G	cd01360	19743875,NP_000134
2271	1730117	Disease	p.Phe312Cys	VAR_002447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002447	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	278	cd01362	19743875,NP_000134
2271	1730117	Disease	p.Phe312Cys	VAR_002447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002447	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	279	cd01596	19743875,NP_000134
2271	1730117	Disease	p.Phe312Cys	VAR_002447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002447	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	265	cd01357	19743875,NP_000134
2271	1730117	Disease	p.Phe312Cys	VAR_002447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002447	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	261	pfam00206	19743875,NP_000134
2271	1730117	Disease	p.Phe312Cys	VAR_002447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002447	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	259_G	cd01595	19743875,NP_000134
2271	1730117	Disease	p.Phe312Cys	VAR_002447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002447	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	267	COG0114	19743875,NP_000134
2271	1730117	Disease	p.Phe312Cys	VAR_002447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002447	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	269	COG1027	19743875,NP_000134
2271	1730117	Disease	p.Phe312Cys	VAR_002447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002447	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	370	cd01594	19743875,NP_000134
2271	1730117	Disease	p.Phe312Cys	VAR_002447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002447	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	254	cd01334	19743875,NP_000134
2271	1730117	Disease	p.Phe312Cys	VAR_002447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002447	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	261	COG0015	19743875,NP_000134
2271	1730117	Disease	p.Phe312Cys	VAR_002447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002447	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	238	cd03302	19743875,NP_000134
2271	1730117	Disease	p.Phe312Cys	VAR_002447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002447	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	237_G	cd01597	19743875,NP_000134
2271	1730117	Disease	p.Asp425Val	VAR_002448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002448	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	340	cd01360	19743875,NP_000134
2271	1730117	Disease	p.Asp425Val	VAR_002448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002448	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	392	cd01362	19743875,NP_000134
2271	1730117	Disease	p.Asp425Val	VAR_002448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002448	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	393	cd01596	19743875,NP_000134
2271	1730117	Disease	p.Asp425Val	VAR_002448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002448	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	378	cd01357	19743875,NP_000134
2271	1730117	Disease	p.Asp425Val	VAR_002448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002448	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	371	cd01595	19743875,NP_000134
2271	1730117	Disease	p.Asp425Val	VAR_002448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002448	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	382	COG0114	19743875,NP_000134
2271	1730117	Disease	p.Asp425Val	VAR_002448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002448	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	382	COG1027	19743875,NP_000134
2271	1730117	Disease	p.Asp425Val	VAR_002448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002448	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	491	cd01594	19743875,NP_000134
2271	1730117	Disease	p.Asp425Val	VAR_002448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002448	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	373	cd01334	19743875,NP_000134
2271	1730117	Disease	p.Asp425Val	VAR_002448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002448	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	371	COG0015	19743875,NP_000134
2271	1730117	Disease	p.Asp425Val	VAR_002448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002448	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	342	cd03302	19743875,NP_000134
2271	1730117	Disease	p.Asp425Val	VAR_002448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002448	- Fumarase deficiency (FHD) [MIM:606812]	SWISS	348	cd01597	19743875,NP_000134
2273	59800384	Disease	p.Trp122Ser	VAR_042603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042603	- X-linked dominant scapuloperoneal myopathy (SPM) [MIM:300695]	SWISS	26	pfam00412	228480211,NP_001153174
2273	59800384	Disease	p.Trp122Ser	VAR_042603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042603	- X-linked dominant scapuloperoneal myopathy (SPM) [MIM:300695]	SWISS	33	smart00132	228480211,NP_001153174
2273	59800384	Disease	p.His123Tyr	VAR_045999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045999	- X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717]	SWISS	27	pfam00412	228480211,NP_001153174
2273	59800384	Disease	p.His123Tyr	VAR_045999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045999	- X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717]	SWISS	34	smart00132	228480211,NP_001153174
2273	59800384	Disease	p.Cys132Phe	VAR_046000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046000	- X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717]	SWISS	36	pfam00412	228480211,NP_001153174
2273	59800384	Disease	p.Cys132Phe	VAR_046000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046000	- X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717]	SWISS	45	smart00132	228480211,NP_001153174
2273	59800384	Disease	p.Cys153Arg	VAR_046001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046001	- X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717]	SWISS	66	pfam00412	228480211,NP_001153174
2273	59800384	Disease	p.Cys153Tyr	VAR_046002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046002	- X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717]	SWISS	66	pfam00412	228480211,NP_001153174
2273	59800384	Disease	p.Cys224Trp	VAR_042605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042605	- X-linked myopathy with postural muscle atrophy (XMPMA) [MIM:300696]	SWISS	No Domain	N/A	228480211,NP_001153174
9896	2497367	Disease	p.Ile41Thr	VAR_036974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036974	- Charcot-Marie-Tooth disease type 4J (CMT4J) [MIM:611228]	SWISS	29	COG5329	7662034,NP_055660
9896	2497367	Disease	p.Asp53Tyr	VAR_054832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054832	- Amyotrophic lateral sclerosis type 11 (ALS11) [MIM:612577]	SWISS	42	COG5329	7662034,NP_055660
79147	46395992	Disease	p.Arg54Trp	VAR_019272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019272	rs28937905 Limb-girdle muscular dystrophy type 2I (LGMD2I) [MIM:607155]	SWISS	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Ala114Gly	VAR_018280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018280	- Congenital muscular dystrophy type 1C (MDC1C) [MIM:606612]	SWISS	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Arg143Ser	VAR_018282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018282	- Limb-girdle muscular dystrophy type 2I (LGMD2I) [MIM:607155]	SWISS	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Pro217Thr	VAR_018283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018283	- Congenital muscular dystrophy type 1C (MDC1C) [MIM:606612]	SWISS	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Ser221Arg	VAR_018284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018284	rs28937902 Congenital muscular dystrophy type 1C (MDC1C) [MIM:606612]	SWISS	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Leu276Ile	VAR_018285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018285	rs28937900 Limb-girdle muscular dystrophy type 2I (LGMD2I) [MIM:607155]	SWISS	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Tyr307Asn	VAR_022850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022850	- Limb-girdle muscular dystrophy type 2I (LGMD2I) [MIM:607155]	SWISS	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Tyr307Asn	VAR_022850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022850	- Muscle-eye-brain disease (MEB) [MIM:253280]	SWISS	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Tyr309Cys	VAR_018286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018286	- Congenital muscular dystrophy type 1C (MDC1C) [MIM:606612]	SWISS	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Arg312Cys	VAR_018287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018287	- Limb-girdle muscular dystrophy type 2I (LGMD2I) [MIM:607155]	SWISS	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Pro315Thr	VAR_018288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018288	- Congenital muscular dystrophy type 1C (MDC1C) [MIM:606612]	SWISS	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Pro316Arg	VAR_018289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018289	- Congenital muscular dystrophy type 1C (MDC1C) [MIM:606612]	SWISS	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Pro316Arg	VAR_018289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018289	- Limb-girdle muscular dystrophy type 2I (LGMD2I) [MIM:607155]	SWISS	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Pro316Ser	VAR_022851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022851	- Limb-girdle muscular dystrophy type 2I (LGMD2I) [MIM:607155]	SWISS	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Cys318Tyr	VAR_022852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022852	- Walker-Warburg syndrome (WWS) [MIM:236670]	SWISS	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Tyr328Ser	VAR_018290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018290	- Congenital muscular dystrophy type 1C (MDC1C) [MIM:606612]	SWISS	No Domain	N/A	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Arg339His	VAR_018292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018292	- Congenital muscular dystrophy type 1C (MDC1C) [MIM:606612]	SWISS	7	pfam04991	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Arg339Leu	VAR_018291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018291	- Limb-girdle muscular dystrophy type 2I (LGMD2I) [MIM:607155]	SWISS	7	pfam04991	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Asp360Asn	VAR_022853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022853	- Limb-girdle muscular dystrophy type 2I (LGMD2I) [MIM:607155]	SWISS	28	pfam04991	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Asp401Asn	VAR_018293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018293	- Congenital muscular dystrophy type 1C (MDC1C) [MIM:606612]	SWISS	207	pfam04991	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Val405Leu	VAR_022854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022854	rs28937904 Congenital muscular dystrophy type 1C (MDC1C) [MIM:606612]	SWISS	211	pfam04991	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Pro448Leu	VAR_018294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018294	- Congenital muscular dystrophy type 1C (MDC1C) [MIM:606612]	SWISS	776	pfam04991	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Ala455Asp	VAR_022855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022855	rs28937903 Congenital muscular dystrophy type 1C (MDC1C) [MIM:606612]	SWISS	783	pfam04991	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Pro462Ser	VAR_022856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022856	- Limb-girdle muscular dystrophy type 2I (LGMD2I) [MIM:607155]	SWISS	791	pfam04991	13236528,NP_077277|89941475,NP_001034974
79147	46395992	Disease	p.Tyr465Ser	VAR_018295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018295	- Congenital muscular dystrophy type 1C (MDC1C) [MIM:606612]	SWISS	794	pfam04991	13236528,NP_077277|89941475,NP_001034974
2218	28381358	Disease	p.Arg179Thr	VAR_039287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039287	- Cardiomyopathy dilated type 1X (CMD1X) [MIM:611615]	SWISS	No Domain	N/A	119395714,NP_006722|119395712,NP_001073270
2218	28381358	Disease	p.Cys250Gly	VAR_018278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018278	- Congenital muscular dystrophy Fukuyama type (FCMD) [MIM:253800]	SWISS	No Domain	N/A	119395714,NP_006722|119395712,NP_001073270
2218	28381358	Disease	p.Arg307Gln	VAR_039288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039288	- Limb-girdle muscular dystrophy type 2M (LGMD2M) [MIM:611588]	SWISS	20	pfam04991	119395714,NP_006722|119395712,NP_001073270
2218	28381358	Disease	p.Gln358Pro	VAR_039289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039289	- Cardiomyopathy dilated type 1X (CMD1X) [MIM:611615]	SWISS	205	pfam04991	119395714,NP_006722|119395712,NP_001073270
2316	116241365	Disease	p.Ala39Gly	VAR_022734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022734	- Periventricular nodular heterotopia type 4 (PVNH4) [MIM:300537]	SWISS	4	COG5069	160420317,NP_001104026
2316	116241365	Disease	p.Glu82Val	VAR_015699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015699	rs28935169 Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]	SWISS	130	pfam00307	160420317,NP_001104026
2316	116241365	Disease	p.Glu82Val	VAR_015699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015699	rs28935169 Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]	SWISS	51	cd00014	160420317,NP_001104026
2316	116241365	Disease	p.Glu82Val	VAR_015699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015699	rs28935169 Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]	SWISS	48	COG5069	160420317,NP_001104026
2316	116241365	Disease	p.Glu82Val	VAR_015699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015699	rs28935169 Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]	SWISS	88	smart00033	160420317,NP_001104026
2316	116241365	Disease	p.Met102Val	VAR_031305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031305	- Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]	SWISS	181	pfam00307	160420317,NP_001104026
2316	116241365	Disease	p.Met102Val	VAR_031305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031305	- Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]	SWISS	87	cd00014	160420317,NP_001104026
2316	116241365	Disease	p.Met102Val	VAR_031305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031305	- Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]	SWISS	67	COG5069	160420317,NP_001104026
2316	116241365	Disease	p.Met102Val	VAR_031305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031305	- Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]	SWISS	170	smart00033	160420317,NP_001104026
2316	116241365	Disease	p.Ala128Val	VAR_031306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031306	- Periventricular nodular heterotopia type 4 (PVNH4) [MIM:300537]	SWISS	220	pfam00307	160420317,NP_001104026
2316	116241365	Disease	p.Ala128Val	VAR_031306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031306	- Periventricular nodular heterotopia type 4 (PVNH4) [MIM:300537]	SWISS	115	cd00014	160420317,NP_001104026
2316	116241365	Disease	p.Ala128Val	VAR_031306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031306	- Periventricular nodular heterotopia type 4 (PVNH4) [MIM:300537]	SWISS	107	COG5069	160420317,NP_001104026
2316	116241365	Disease	p.Ala128Val	VAR_031306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031306	- Periventricular nodular heterotopia type 4 (PVNH4) [MIM:300537]	SWISS	207	smart00033	160420317,NP_001104026
2316	116241365	Disease	p.Ser149Phe	VAR_031307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031307	- Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]	SWISS	138	COG5069	160420317,NP_001104026
2316	116241365	Disease	p.Gln170Pro	VAR_015713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015713	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	3	smart00033	160420317,NP_001104026
2316	116241365	Disease	p.Gln170Pro	VAR_015713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015713	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	9	pfam00307	160420317,NP_001104026
2316	116241365	Disease	p.Gln170Pro	VAR_015713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015713	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	4	cd00014	160420317,NP_001104026
2316	116241365	Disease	p.Gln170Pro	VAR_015713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015713	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	154	COG5069	160420317,NP_001104026
2316	116241365	Disease	p.Leu172Phe	VAR_015714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015714	- Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]	SWISS	5	smart00033	160420317,NP_001104026
2316	116241365	Disease	p.Leu172Phe	VAR_015714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015714	- Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]	SWISS	11	pfam00307	160420317,NP_001104026
2316	116241365	Disease	p.Leu172Phe	VAR_015714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015714	- Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]	SWISS	6	cd00014	160420317,NP_001104026
2316	116241365	Disease	p.Leu172Phe	VAR_015714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015714	- Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]	SWISS	156	COG5069	160420317,NP_001104026
2316	116241365	Disease	p.Arg196Gly	VAR_015715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015715	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	81	smart00033	160420317,NP_001104026
2316	116241365	Disease	p.Arg196Gly	VAR_015715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015715	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	123	pfam00307	160420317,NP_001104026
2316	116241365	Disease	p.Arg196Gly	VAR_015715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015715	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	44	cd00014	160420317,NP_001104026
2316	116241365	Disease	p.Arg196Gly	VAR_015715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015715	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	185	COG5069	160420317,NP_001104026
2316	116241365	Disease	p.Arg196Trp	VAR_015716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015716	- Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]	SWISS	81	smart00033	160420317,NP_001104026
2316	116241365	Disease	p.Arg196Trp	VAR_015716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015716	- Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]	SWISS	123	pfam00307	160420317,NP_001104026
2316	116241365	Disease	p.Arg196Trp	VAR_015716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015716	- Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]	SWISS	44	cd00014	160420317,NP_001104026
2316	116241365	Disease	p.Arg196Trp	VAR_015716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015716	- Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]	SWISS	185	COG5069	160420317,NP_001104026
2316	116241365	Disease	p.Ala200Ser	VAR_015717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015717	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	85	smart00033	160420317,NP_001104026
2316	116241365	Disease	p.Ala200Ser	VAR_015717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015717	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	127	pfam00307	160420317,NP_001104026
2316	116241365	Disease	p.Ala200Ser	VAR_015717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015717	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	48	cd00014	160420317,NP_001104026
2316	116241365	Disease	p.Ala200Ser	VAR_015717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015717	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	189	COG5069	160420317,NP_001104026
2316	116241365	Disease	p.Asp203Tyr	VAR_031308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031308	- Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]	SWISS	88	smart00033	160420317,NP_001104026
2316	116241365	Disease	p.Asp203Tyr	VAR_031308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031308	- Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]	SWISS	130	pfam00307	160420317,NP_001104026
2316	116241365	Disease	p.Asp203Tyr	VAR_031308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031308	- Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]	SWISS	51	cd00014	160420317,NP_001104026
2316	116241365	Disease	p.Asp203Tyr	VAR_031308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031308	- Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]	SWISS	192	COG5069	160420317,NP_001104026
2316	116241365	Disease	p.Pro207Leu	VAR_015700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015700	rs28935469 Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]	SWISS	92	smart00033	160420317,NP_001104026
2316	116241365	Disease	p.Pro207Leu	VAR_015700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015700	rs28935469 Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]	SWISS	135	pfam00307	160420317,NP_001104026
2316	116241365	Disease	p.Pro207Leu	VAR_015700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015700	rs28935469 Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]	SWISS	55	cd00014	160420317,NP_001104026
2316	116241365	Disease	p.Pro207Leu	VAR_015700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015700	rs28935469 Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]	SWISS	196	COG5069	160420317,NP_001104026
2316	116241365	Disease	p.Cys210Phe	VAR_058720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058720	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	111	smart00033	160420317,NP_001104026
2316	116241365	Disease	p.Cys210Phe	VAR_058720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058720	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	150	pfam00307	160420317,NP_001104026
2316	116241365	Disease	p.Cys210Phe	VAR_058720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058720	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	58	cd00014	160420317,NP_001104026
2316	116241365	Disease	p.Cys210Phe	VAR_058720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058720	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	200	COG5069	160420317,NP_001104026
2316	116241365	Disease	p.Glu254Lys	VAR_015701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015701	rs28935470 Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	227	smart00033	160420317,NP_001104026
2316	116241365	Disease	p.Glu254Lys	VAR_015701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015701	rs28935470 Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	232	pfam00307	160420317,NP_001104026
2316	116241365	Disease	p.Glu254Lys	VAR_015701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015701	rs28935470 Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	125	cd00014	160420317,NP_001104026
2316	116241365	Disease	p.Glu254Lys	VAR_015701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015701	rs28935470 Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	247	COG5069	160420317,NP_001104026
2316	116241365	Disease	p.Ala273Pro	VAR_015718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015718	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	273	COG5069	160420317,NP_001104026
2316	116241365	Disease	p.Val528Met	VAR_031309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031309	- Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]	SWISS	237	pfam00630	160420317,NP_001104026
2316	116241365	Disease	p.Val528Met	VAR_031309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031309	- Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]	SWISS	140	smart00557	160420317,NP_001104026
2316	116241365	Disease	p.Val528Met	VAR_031309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031309	- Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]	SWISS	544	COG5069	160420317,NP_001104026
2316	116241365	Disease	p.Thr555Lys	VAR_015719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015719	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	303	pfam00630	160420317,NP_001104026
2316	116241365	Disease	p.Thr555Lys	VAR_015719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015719	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	182	smart00557	160420317,NP_001104026
2316	116241365	Disease	p.Thr555Lys	VAR_015719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015719	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	563	COG5069	160420317,NP_001104026
2316	116241365	Disease	p.Leu656Phe	VAR_012834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012834	- Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]	SWISS	211	smart00557	160420317,NP_001104026
2316	116241365	Disease	p.Leu656Phe	VAR_012834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012834	- Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]	SWISS	325	pfam00630	160420317,NP_001104026
2316	116241365	Disease	p.Asp1159Ala	VAR_015702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015702	rs28935471 Frontometaphyseal dysplasia (FMD) [MIM:305620]	SWISS	3	pfam00630	160420317,NP_001104026
2316	116241365	Disease	p.Asp1184Glu	VAR_015720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015720	- Melnick-Needles syndrome (MNS) [MIM:309350]	SWISS	54	smart00557	160420317,NP_001104026
2316	116241365	Disease	p.Asp1184Glu	VAR_015720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015720	- Melnick-Needles syndrome (MNS) [MIM:309350]	SWISS	52	pfam00630	160420317,NP_001104026
2316	116241365	Disease	p.Ser1186Leu	VAR_015721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015721	- Frontometaphyseal dysplasia (FMD) [MIM:305620]	SWISS	56	smart00557	160420317,NP_001104026
2316	116241365	Disease	p.Ser1186Leu	VAR_015721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015721	- Frontometaphyseal dysplasia (FMD) [MIM:305620]	SWISS	54	pfam00630	160420317,NP_001104026
2316	116241365	Disease	p.Ala1188Thr	VAR_015703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015703	rs28935472 Melnick-Needles syndrome (MNS) [MIM:309350]	SWISS	70	smart00557	160420317,NP_001104026
2316	116241365	Disease	p.Ala1188Thr	VAR_015703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015703	rs28935472 Melnick-Needles syndrome (MNS) [MIM:309350]	SWISS	61	pfam00630	160420317,NP_001104026
2316	116241365	Disease	p.Ser1199Leu	VAR_015704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015704	rs28935473 Melnick-Needles syndrome (MNS) [MIM:309350]	SWISS	125	smart00557	160420317,NP_001104026
2316	116241365	Disease	p.Ser1199Leu	VAR_015704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015704	rs28935473 Melnick-Needles syndrome (MNS) [MIM:309350]	SWISS	121	pfam00630	160420317,NP_001104026
2316	116241365	Disease	p.Pro1291Leu	VAR_058721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058721	- FG syndrome type 2 (FGS2) [MIM:300321]	SWISS	84	smart00557	160420317,NP_001104026
2316	116241365	Disease	p.Pro1291Leu	VAR_058721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058721	- FG syndrome type 2 (FGS2) [MIM:300321]	SWISS	77	pfam00630	160420317,NP_001104026
2316	116241365	Disease	p.Cys1645Phe	VAR_015723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015723	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	8	pfam00630	160420317,NP_001104026
2316	116241365	Disease	p.Cys1645Phe	VAR_015723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015723	- Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]	SWISS	4	smart00557	160420317,NP_001104026
2316	116241365	Disease	p.Gly1728Cys	VAR_031312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031312	- Frontometaphyseal dysplasia (FMD) [MIM:305620]	SWISS	312	pfam00630	160420317,NP_001104026
2316	116241365	Disease	p.Gly1728Cys	VAR_031312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031312	- Frontometaphyseal dysplasia (FMD) [MIM:305620]	SWISS	189	smart00557	160420317,NP_001104026
2316	116241365	Disease	p.Ala1764Thr	VAR_012835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012835	rs57108893 Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]	SWISS	6	smart00557	160420317,NP_001104026
2317	296434507	Disease	p.Phe161Cys	VAR_033069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033069	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	71	smart00033	105990514,NP_001448
2317	296434507	Disease	p.Phe161Cys	VAR_033069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033069	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	112	pfam00307	105990514,NP_001448
2317	296434507	Disease	p.Phe161Cys	VAR_033069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033069	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	36	cd00014	105990514,NP_001448
2317	296434507	Disease	p.Phe161Cys	VAR_033069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033069	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	177	COG5069	105990514,NP_001448
2317	296434507	Disease	p.Gly168Ser	VAR_033070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033070	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	80	smart00033	105990514,NP_001448
2317	296434507	Disease	p.Gly168Ser	VAR_033070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033070	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	122	pfam00307	105990514,NP_001448
2317	296434507	Disease	p.Gly168Ser	VAR_033070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033070	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	43	cd00014	105990514,NP_001448
2317	296434507	Disease	p.Gly168Ser	VAR_033070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033070	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	184	COG5069	105990514,NP_001448
2317	296434507	Disease	p.Leu171Arg	VAR_033071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033071	- Boomerang dysplasia [MIM:112310]	SWISS	83	smart00033	105990514,NP_001448
2317	296434507	Disease	p.Leu171Arg	VAR_033071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033071	- Boomerang dysplasia [MIM:112310]	SWISS	125	pfam00307	105990514,NP_001448
2317	296434507	Disease	p.Leu171Arg	VAR_033071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033071	- Boomerang dysplasia [MIM:112310]	SWISS	46	cd00014	105990514,NP_001448
2317	296434507	Disease	p.Leu171Arg	VAR_033071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033071	- Boomerang dysplasia [MIM:112310]	SWISS	187	COG5069	105990514,NP_001448
2317	296434507	Disease	p.Ala173Val	VAR_033072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033072	rs28937586 Atelosteogenesis type 1 (AO1) [MIM:108720]	SWISS	85	smart00033	105990514,NP_001448
2317	296434507	Disease	p.Ala173Val	VAR_033072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033072	rs28937586 Atelosteogenesis type 1 (AO1) [MIM:108720]	SWISS	127	pfam00307	105990514,NP_001448
2317	296434507	Disease	p.Ala173Val	VAR_033072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033072	rs28937586 Atelosteogenesis type 1 (AO1) [MIM:108720]	SWISS	48	cd00014	105990514,NP_001448
2317	296434507	Disease	p.Ala173Val	VAR_033072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033072	rs28937586 Atelosteogenesis type 1 (AO1) [MIM:108720]	SWISS	189	COG5069	105990514,NP_001448
2317	296434507	Disease	p.Ser188Pro	VAR_033073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033073	- Atelosteogenesis type 1 (AO1) [MIM:108720]	SWISS	161	smart00033	105990514,NP_001448
2317	296434507	Disease	p.Ser188Pro	VAR_033073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033073	- Atelosteogenesis type 1 (AO1) [MIM:108720]	SWISS	155	pfam00307	105990514,NP_001448
2317	296434507	Disease	p.Ser188Pro	VAR_033073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033073	- Atelosteogenesis type 1 (AO1) [MIM:108720]	SWISS	82	cd00014	105990514,NP_001448
2317	296434507	Disease	p.Ser188Pro	VAR_033073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033073	- Atelosteogenesis type 1 (AO1) [MIM:108720]	SWISS	205	COG5069	105990514,NP_001448
2317	296434507	Disease	p.Met202Val	VAR_033074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033074	rs28939707 Atelosteogenesis type 1 (AO1) [MIM:108720]	SWISS	179	smart00033	105990514,NP_001448
2317	296434507	Disease	p.Met202Val	VAR_033074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033074	rs28939707 Atelosteogenesis type 1 (AO1) [MIM:108720]	SWISS	190	pfam00307	105990514,NP_001448
2317	296434507	Disease	p.Met202Val	VAR_033074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033074	rs28939707 Atelosteogenesis type 1 (AO1) [MIM:108720]	SWISS	96	cd00014	105990514,NP_001448
2317	296434507	Disease	p.Met202Val	VAR_033074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033074	rs28939707 Atelosteogenesis type 1 (AO1) [MIM:108720]	SWISS	219	COG5069	105990514,NP_001448
2317	296434507	Disease	p.Met202Val	VAR_033074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033074	rs28939707 Atelosteogenesis type 3 (AO3) [MIM:108721]	SWISS	179	smart00033	105990514,NP_001448
2317	296434507	Disease	p.Met202Val	VAR_033074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033074	rs28939707 Atelosteogenesis type 3 (AO3) [MIM:108721]	SWISS	190	pfam00307	105990514,NP_001448
2317	296434507	Disease	p.Met202Val	VAR_033074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033074	rs28939707 Atelosteogenesis type 3 (AO3) [MIM:108721]	SWISS	96	cd00014	105990514,NP_001448
2317	296434507	Disease	p.Met202Val	VAR_033074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033074	rs28939707 Atelosteogenesis type 3 (AO3) [MIM:108721]	SWISS	219	COG5069	105990514,NP_001448
2317	296434507	Disease	p.Glu227Lys	VAR_033075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033075	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	227	smart00033	105990514,NP_001448
2317	296434507	Disease	p.Glu227Lys	VAR_033075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033075	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	232	pfam00307	105990514,NP_001448
2317	296434507	Disease	p.Glu227Lys	VAR_033075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033075	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	125	cd00014	105990514,NP_001448
2317	296434507	Disease	p.Glu227Lys	VAR_033075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033075	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	247	COG5069	105990514,NP_001448
2317	296434507	Disease	p.Leu234Val	VAR_033076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033076	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	234	smart00033	105990514,NP_001448
2317	296434507	Disease	p.Leu234Val	VAR_033076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033076	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	246	pfam00307	105990514,NP_001448
2317	296434507	Disease	p.Leu234Val	VAR_033076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033076	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	132	cd00014	105990514,NP_001448
2317	296434507	Disease	p.Leu234Val	VAR_033076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033076	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	273	COG5069	105990514,NP_001448
2317	296434507	Disease	p.Ser235Pro	VAR_033077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033077	- Boomerang dysplasia [MIM:112310]	SWISS	235	smart00033	105990514,NP_001448
2317	296434507	Disease	p.Ser235Pro	VAR_033077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033077	- Boomerang dysplasia [MIM:112310]	SWISS	247	pfam00307	105990514,NP_001448
2317	296434507	Disease	p.Ser235Pro	VAR_033077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033077	- Boomerang dysplasia [MIM:112310]	SWISS	133	cd00014	105990514,NP_001448
2317	296434507	Disease	p.Ser235Pro	VAR_033077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033077	- Boomerang dysplasia [MIM:112310]	SWISS	274	COG5069	105990514,NP_001448
2317	296434507	Disease	p.Gly361Ser	VAR_033078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033078	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	16	pfam00630	105990514,NP_001448
2317	296434507	Disease	p.Gly361Ser	VAR_033078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033078	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	20	smart00557	105990514,NP_001448
2317	296434507	Disease	p.Gly361Ser	VAR_033078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033078	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	443	COG5069	105990514,NP_001448
2317	296434507	Disease	p.Gly363Glu	VAR_033079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033079	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	18	pfam00630	105990514,NP_001448
2317	296434507	Disease	p.Gly363Glu	VAR_033079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033079	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	22	smart00557	105990514,NP_001448
2317	296434507	Disease	p.Gly363Glu	VAR_033079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033079	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	449	COG5069	105990514,NP_001448
2317	296434507	Disease	p.Gly751Arg	VAR_033080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033080	rs28937587 Atelosteogenesis type 3 (AO3) [MIM:108721]	SWISS	18	pfam00630	105990514,NP_001448
2317	296434507	Disease	p.Gly751Arg	VAR_033080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033080	rs28937587 Atelosteogenesis type 3 (AO3) [MIM:108721]	SWISS	22	smart00557	105990514,NP_001448
2317	296434507	Disease	p.Leu1431Arg	VAR_033081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033081	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	23	smart00557	105990514,NP_001448
2317	296434507	Disease	p.Leu1431Arg	VAR_033081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033081	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	26	pfam00630	105990514,NP_001448
2317	296434507	Disease	p.Gly1586Arg	VAR_033083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033083	rs28939706 Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	172	smart00557	105990514,NP_001448
2317	296434507	Disease	p.Gly1586Arg	VAR_033083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033083	rs28939706 Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	295	pfam00630	105990514,NP_001448
2317	296434507	Disease	p.Val1592Asp	VAR_033084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033084	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	181	smart00557	105990514,NP_001448
2317	296434507	Disease	p.Val1592Asp	VAR_033084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033084	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	302	pfam00630	105990514,NP_001448
2317	296434507	Disease	p.Pro1603Leu	VAR_033085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033085	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	213	smart00557	105990514,NP_001448
2317	296434507	Disease	p.Pro1603Leu	VAR_033085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033085	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	328	pfam00630	105990514,NP_001448
2317	296434507	Disease	p.Gly1691Ser	VAR_033086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033086	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	307	pfam00630	105990514,NP_001448
2317	296434507	Disease	p.Gly1691Ser	VAR_033086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033086	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	184	smart00557	105990514,NP_001448
2317	296434507	Disease	p.Gly1834Arg	VAR_033087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033087	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	33	pfam00630	105990514,NP_001448
2317	296434507	Disease	p.Gly1834Arg	VAR_033087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033087	- Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]	SWISS	31	smart00557	105990514,NP_001448
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	32	cd05098	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	26	cd05053	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	26	cd05099	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	26	cd05100	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	51	cd05055	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	21	cd06606	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	15	cd06627	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	15	cd07841	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	14	cd06631	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	14	cd07832	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	15	cd06626	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	14	cd06632	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	14	cd05045	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	14	cd08530	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	21	cd05122	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	51	cd05107	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	51	cd05105	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	20	cd06608	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	17	cd06612	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	18	cd05059	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	17	cd06613	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	18	cd05114	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	18	cd05112	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	22	cd05581	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	16	cd06625	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	15	cd06605	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	15	cd05580	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	16	cd05089	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	57	COG0515	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	15	cd07833	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	20	cd06623	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	14	cd08217	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	14	cd08221	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	13	cd05118	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	9	cd05047	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	9	cd05116	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	9	cd05060	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	9	cd05087	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	14	cd08215	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	9	cd05084	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	9	cd05085	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	9	cd05086	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	9	cd05044	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	9	cd05041	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	9	cd05040	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	9	cd05570	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	9	cd05058	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	9	cd05037	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	9	cd00192	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	10	cd05582	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	16	cd08224	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	21	cd05043	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	32	cd05057	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	21	cd05103	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	21	cd05054	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	21	cd05102	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	7	cd07846	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	21	cd05088	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	26	cd06644	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	19	cd05063	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	19	cd05064	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	19	cd05049	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	19	cd05046	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	27	cd05051	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	19	cd05050	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	19	cd05096	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	19	cd05095	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	19	cd05097	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	19	cd05094	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	19	cd05093	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	19	cd06611	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	19	cd05092	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	19	cd05090	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	19	cd05091	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	19	cd05048	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	34	cd06614	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	49	cd05104	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	13	smart00219	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	17	pfam07714	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	13	pfam00069	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	13	cd05075	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	13	cd05074	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	13	cd05035	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	13	cd05589	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	13	cd07830	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	14	cd07829	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	13	smart00221	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	20	cd05071	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	20	cd05061	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	20	cd05056	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	20	cd05052	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	20	cd05062	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	22	cd05032	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	20	cd05036	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	20	cd05067	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	20	cd05070	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	20	cd05069	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	20	cd05082	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	20	cd05148	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	20	cd05083	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	20	cd05034	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	20	cd05039	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	20	cd05068	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	20	cd05073	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	20	cd05072	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	15	cd06629	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	14	cd06630	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	29	cd05101	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	29	cd07851	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	9	cd05115	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	10	cd00180	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	9	cd05042	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	7	cd05123	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	18	cd05080	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	18	cd05066	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	18	cd05079	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	19	cd05038	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	18	cd05033	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	18	cd05081	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	18	cd05065	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	21	cd05108	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	21	cd05109	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	21	cd05111	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	18	cd05113	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	52	cd05106	103472027,NP_002011
2324	1718189	Disease	p.Gly857Arg	VAR_018409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018409	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	3	smart00220	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	126_G	cd05098	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	42	cd06628	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	38	cd08223	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	114	cd05053	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	111_G	cd05099	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	111_G	cd05100	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	146	cd05055	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	173_G	cd06606	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	105_G	cd06627	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	120_G	cd07841	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	96_G	cd06631	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	105_G	cd07832	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	97_G	cd06626	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	111_G	cd06632	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	98_G	cd05045	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	97	cd08530	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	119_G	cd05122	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	148	cd05107	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	172	cd05105	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	32_G	cd06617	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	124_G	cd06608	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	113_G	cd06612	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	91_G	cd05059	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	101_G	cd06613	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	91_G	cd05114	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	98_G	cd05112	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	170	cd05581	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	99_G	cd06625	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	102_G	cd06605	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	144	cd05580	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	104	cd05089	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	468	COG0515	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	105_G	cd07833	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	134_G	cd06623	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	106_G	cd08217	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	91	cd08221	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	102_G	cd05118	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	97	cd05047	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	91_G	cd05116	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	99_G	cd05060	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	92_G	cd05087	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	128_G	cd08215	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	87_G	cd05084	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	90_G	cd05085	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	91_G	cd05086	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	92_G	cd05044	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	92_G	cd05041	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	95_G	cd05040	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	85_G	cd05570	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	97_G	cd05058	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	108_G	cd05037	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	255	cd00192	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	85_G	cd05582	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	108_G	cd08224	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	130_G	cd05043	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	157_G	cd05057	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	118	cd05103	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	118	cd05054	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	118	cd05102	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	23	cd08229	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	44	cd06659	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	53	cd05605	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	83_G	cd07846	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	15	cd05577	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	56	cd05110	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	109	cd05088	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	99_G	cd06644	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	46	cd06651	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	108_G	cd05063	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	98_G	cd05064	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	106	cd05049	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	170_G	cd05046	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	139_G	cd05051	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	110	cd05050	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	114_G	cd05096	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	113_G	cd05095	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	110_G	cd05097	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	103	cd05094	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	101_G	cd05093	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	94_G	cd06611	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	101_G	cd05092	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	108_G	cd05090	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	108_G	cd05091	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	105	cd05048	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	134	cd06614	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	42	cd05077	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	145	cd05104	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	318	smart00219	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	160	pfam07714	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	134_G	pfam00069	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	97_G	cd05075	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	109_G	cd05074	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	117	cd05035	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	99_G	cd05589	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	141_G	cd07830	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	116_G	cd07829	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	409	smart00221	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	91_G	cd05071	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	104_G	cd05061	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	132_G	cd05056	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	95_G	cd05052	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	104_G	cd05062	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	138	cd05032	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	104_G	cd05036	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	91_G	cd05067	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	92_G	cd05070	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	92_G	cd05069	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	93_G	cd05082	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	97	cd05148	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	91_G	cd05083	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	92_G	cd05034	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	97_G	cd05039	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	96_G	cd05068	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	92_G	cd05073	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	92_G	cd05072	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	29	cd07866	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	102	cd06629	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	94_G	cd06630	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	62_G	cd06622	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	58	cd08219	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	123_G	cd05101	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	19_G	cd05078	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	115_G	cd07851	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	91_G	cd05115	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	304	cd00180	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	104	cd05042	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	359_G	cd05123	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	31	cd05608	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	100	cd05080	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	100_G	cd05066	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	100_G	cd05079	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	122_G	cd05038	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	133_G	cd05033	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	102_G	cd05081	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	99_G	cd05065	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	105_G	cd05108	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	104_G	cd05109	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	108_G	cd05111	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	94_G	cd05113	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	153	cd05106	103472027,NP_002011
2324	1718189	Disease	p.Pro954Ser	VAR_018411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018411	rs34255532 Juvenile hemangioma	SWISS	342	smart00220	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	163	cd05098	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	131	cd06628	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	125	cd08223	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	142	cd06618	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	173	cd05053	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	157	cd05099	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	157	cd05100	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	262	cd05055	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	204	cd06606	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	130	cd06627	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	140	cd07841	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	127	cd06631	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	138	cd07832	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	125	cd06626	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	142	cd06632	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	150	cd05045	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	129	cd08530	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	157	cd05122	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	265	cd05107	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	263	cd05105	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	128	cd06617	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	166	cd06608	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	138	cd06612	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	125	cd05059	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	126	cd06613	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	123	cd05114	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	123	cd05112	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	239	cd05581	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	129	cd06625	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	141	cd06605	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	177	cd05580	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	142	cd05089	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	555	COG0515	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	145	cd07833	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	171	cd06623	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	155	cd08217	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	125	cd08221	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	132	cd05118	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	135	cd05047	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	118	cd05116	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	125	cd05060	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	128	cd05087	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	166	cd08215	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	117	cd05084	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	117	cd05085	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	123	cd05086	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	133	cd05044	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	119	cd05041	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	127	cd05040	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	121	cd05570	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	128	cd05058	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	142	cd05037	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	332	cd00192	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	121	cd05582	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	130	cd08224	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	165	cd05043	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	144	cd07845	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	133	cd06917	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	146	cd06609	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	185	cd05057	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	203	cd05103	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	251	cd05054	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	201	cd05102	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	129	cd08229	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	140	cd06659	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	125	cd05605	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	124	cd07846	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	123	cd05577	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	132	cd05110	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	147	cd05088	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	133	cd06644	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	129	cd06651	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	131	cd05063	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	130	cd05064	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	150	cd05049	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	209	cd05046	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	184	cd05051	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	156	cd05050	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	179	cd05096	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	164	cd05095	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	154	cd05097	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	146	cd05094	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	143	cd05093	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	128	cd06611	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	145	cd05092	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	147	cd05090	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	147	cd05091	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	150	cd05048	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	175	cd06614	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	128	cd05077	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	247	cd05104	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	420	smart00219	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	279	pfam07714	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	214	pfam00069	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	150	cd05075	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	136	cd05074	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	146	cd05035	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	124	cd05589	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	175	cd07830	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	163	cd07829	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	535	smart00221	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	46	smart00750	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	125	cd05071	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	143	cd05061	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	159	cd05056	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	127	cd05052	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	142	cd05062	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	187	cd05032	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	141	cd05036	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	125	cd05067	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	125	cd05070	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	125	cd05069	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	125	cd05082	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	128	cd05148	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	123	cd05083	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	126	cd05034	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	129	cd05039	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	128	cd05068	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	126	cd05073	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	126	cd05072	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	154	cd07866	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	124	cd05578	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	139	cd06648	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	133	cd06629	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	126	cd06630	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	138	cd06622	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	123	cd08219	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	160	cd05101	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	125	cd05078	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	138	cd06616	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	172	cd07840	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	157	cd07851	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	118	cd05115	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	364	cd00180	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	126	cd05042	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	639	cd05123	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	120	cd05608	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	130	cd05080	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	129	cd05066	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	132	cd05079	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	151	cd05038	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	161	cd05033	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	131	cd05081	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	129	cd05065	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	132	cd05108	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	132	cd05109	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	132	cd05111	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	124	cd05113	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	245	cd05106	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	129	cd08529	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	135	cd06610	103472027,NP_002011
2324	1718189	Disease	p.His1035Arg	VAR_018412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018412	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	425	smart00220	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	169	cd05098	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	137	cd06628	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	131	cd08223	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	148	cd06618	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	179	cd05053	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	163	cd05099	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	163	cd05100	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	268	cd05055	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	210	cd06606	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	136	cd06627	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	146	cd07841	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	133	cd06631	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	144	cd07832	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	131	cd06626	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	148	cd06632	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	156	cd05045	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	135	cd08530	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	163	cd05122	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	271	cd05107	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	269	cd05105	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	134	cd06617	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	172	cd06608	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	144	cd06612	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	131	cd05059	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	132	cd06613	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	129	cd05114	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	129	cd05112	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	245	cd05581	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	135	cd06625	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	147	cd06605	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	183	cd05580	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	148	cd05089	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	586	COG0515	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	151	cd07833	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	177	cd06623	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	161	cd08217	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	131	cd08221	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	138	cd05118	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	141	cd05047	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	124	cd05116	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	131	cd05060	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	134	cd05087	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	172	cd08215	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	123	cd05084	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	123	cd05085	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	129	cd05086	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	139	cd05044	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	125	cd05041	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	133	cd05040	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	127	cd05570	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	134	cd05058	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	148	cd05037	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	338	cd00192	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	127	cd05582	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	136	cd08224	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	171	cd05043	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	150	cd07845	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	139	cd06917	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	152	cd06609	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	191	cd05057	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	209	cd05103	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	257	cd05054	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	207	cd05102	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	135	cd08229	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	146	cd06659	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	131	cd05605	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	130	cd07846	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	129	cd05577	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	138	cd05110	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	153	cd05088	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	139	cd06644	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	135	cd06651	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	137	cd05063	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	136	cd05064	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	156	cd05049	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	215	cd05046	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	190	cd05051	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	162	cd05050	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	185	cd05096	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	170	cd05095	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	160	cd05097	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	152	cd05094	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	149	cd05093	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	134	cd06611	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	151	cd05092	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	153	cd05090	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	153	cd05091	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	156	cd05048	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	181	cd06614	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	134	cd05077	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	253	cd05104	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	426	smart00219	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	285	pfam07714	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	220	pfam00069	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	156	cd05075	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	142	cd05074	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	152	cd05035	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	130	cd05589	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	181	cd07830	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	169	cd07829	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	541	smart00221	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	58	smart00750	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	131	cd05071	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	149	cd05061	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	165	cd05056	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	133	cd05052	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	148	cd05062	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	193	cd05032	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	147	cd05036	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	131	cd05067	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	131	cd05070	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	131	cd05069	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	131	cd05082	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	134	cd05148	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	129	cd05083	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	132	cd05034	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	135	cd05039	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	134	cd05068	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	132	cd05073	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	132	cd05072	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	160	cd07866	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	130	cd05578	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	145	cd06648	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	139	cd06629	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	132	cd06630	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	144	cd06622	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	129	cd08219	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	166	cd05101	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	131	cd05078	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	144	cd06616	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	178	cd07840	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	163	cd07851	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	124	cd05115	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	370	cd00180	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	132	cd05042	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	645	cd05123	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	126	cd05608	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	136	cd05080	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	135	cd05066	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	138	cd05079	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	157	cd05038	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	167	cd05033	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	137	cd05081	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	135	cd05065	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	138	cd05108	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	138	cd05109	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	138	cd05111	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	130	cd05113	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	251	cd05106	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	135	cd08529	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	141	cd06610	103472027,NP_002011
2324	1718189	Disease	p.Arg1041Pro	VAR_018413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018413	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	431	smart00220	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	172	cd05098	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	140	cd06628	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	134	cd08223	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	151	cd06618	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	182	cd05053	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	166	cd05099	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	166	cd05100	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	271	cd05055	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	213	cd06606	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	139	cd06627	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	149	cd07841	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	136	cd06631	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	147	cd07832	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	134	cd06626	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	151	cd06632	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	159	cd05045	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	138	cd08530	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	166	cd05122	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	274	cd05107	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	272	cd05105	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	137	cd06617	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	175	cd06608	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	147	cd06612	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	134	cd05059	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	135	cd06613	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	132	cd05114	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	132	cd05112	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	248	cd05581	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	138	cd06625	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	150	cd06605	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	186	cd05580	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	151	cd05089	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	589	COG0515	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	154	cd07833	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	180	cd06623	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	164	cd08217	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	134	cd08221	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	141	cd05118	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	144	cd05047	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	127	cd05116	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	134	cd05060	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	137	cd05087	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	175	cd08215	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	126	cd05084	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	126	cd05085	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	132	cd05086	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	142	cd05044	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	128	cd05041	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	136	cd05040	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	130	cd05570	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	137	cd05058	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	151	cd05037	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	341	cd00192	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	130	cd05582	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	139	cd08224	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	174	cd05043	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	153	cd07845	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	142	cd06917	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	155	cd06609	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	194	cd05057	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	212	cd05103	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	260	cd05054	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	210	cd05102	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	138	cd08229	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	149	cd06659	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	134	cd05605	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	133	cd07846	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	132	cd05577	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	141	cd05110	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	156	cd05088	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	142	cd06644	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	138	cd06651	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	140	cd05063	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	139	cd05064	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	159	cd05049	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	218	cd05046	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	193	cd05051	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	165	cd05050	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	188	cd05096	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	173	cd05095	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	163	cd05097	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	155	cd05094	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	152	cd05093	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	137	cd06611	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	154	cd05092	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	156	cd05090	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	156	cd05091	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	159	cd05048	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	184	cd06614	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	137	cd05077	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	256	cd05104	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	429	smart00219	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	288	pfam07714	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	223	pfam00069	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	159	cd05075	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	145	cd05074	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	155	cd05035	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	133	cd05589	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	184	cd07830	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	172	cd07829	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	544	smart00221	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	61	smart00750	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	134	cd05071	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	152	cd05061	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	168	cd05056	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	136	cd05052	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	151	cd05062	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	196	cd05032	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	150	cd05036	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	134	cd05067	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	134	cd05070	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	134	cd05069	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	134	cd05082	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	137	cd05148	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	132	cd05083	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	135	cd05034	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	138	cd05039	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	137	cd05068	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	135	cd05073	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	135	cd05072	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	163	cd07866	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	133	cd05578	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	148	cd06648	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	142	cd06629	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	135	cd06630	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	147	cd06622	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	132	cd08219	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	169	cd05101	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	134	cd05078	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	147	cd06616	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	181	cd07840	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	166	cd07851	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	127	cd05115	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	373	cd00180	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	135	cd05042	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	648	cd05123	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	129	cd05608	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	139	cd05080	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	138	cd05066	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	141	cd05079	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	160	cd05038	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	170	cd05033	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	140	cd05081	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	138	cd05065	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	141	cd05108	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	141	cd05109	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	141	cd05111	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	133	cd05113	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	254	cd05106	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	138	cd08529	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	144	cd06610	103472027,NP_002011
2324	1718189	Disease	p.Leu1044Pro	VAR_018414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018414	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	435	smart00220	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	242	cd05098	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	215	cd06628	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	201_G	cd08223	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	222	cd06618	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	253	cd05053	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	236	cd05099	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	237	cd05100	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	341	cd05055	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	346	cd06606	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	244	cd06627	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	237	cd07841	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	209	cd06631	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	245	cd07832	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	246	cd06626	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	225	cd06632	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	229	cd05045	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	207	cd08530	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	244	cd05122	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	344	cd05107	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	342	cd05105	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	207	cd06617	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	252	cd06608	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	219	cd06612	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	203	cd05059	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	208	cd06613	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	201	cd05114	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	201	cd05112	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	450	cd05581	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	209	cd06625	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	223	cd06605	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	262	cd05580	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	218	cd05089	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	933	COG0515	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	259	cd07833	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	258	cd06623	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	272	cd08217	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	208	cd08221	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	212	cd05118	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	211	cd05047	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	198	cd05116	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	205	cd05060	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	214	cd05087	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	277	cd08215	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	196	cd05084	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	195	cd05085	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	209	cd05086	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	219	cd05044	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	198	cd05041	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	213	cd05040	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	197	cd05570	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	209	cd05058	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	231	cd05037	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	441	cd00192	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	197	cd05582	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	206	cd08224	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	247	cd05043	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	223	cd07845	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	213	cd06917	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	230	cd06609	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	265	cd05057	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	282	cd05103	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	331	cd05054	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	280	cd05102	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	205	cd08229	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	216	cd06659	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	200	cd05605	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	202	cd07846	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	200	cd05577	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	211	cd05110	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	223	cd05088	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	213_G	cd06644	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	205_G	cd06651	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	211	cd05063	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	209	cd05064	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	234	cd05049	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	288	cd05046	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	273	cd05051	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	235	cd05050	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	270	cd05096	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	244	cd05095	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	234	cd05097	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	232	cd05094	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	222	cd05093	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	226	cd06611	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	224	cd05092	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	226	cd05090	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	226	cd05091	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	229	cd05048	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	253	cd06614	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	209	cd05077	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	326	cd05104	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	595	smart00219	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	398	pfam07714	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	362	pfam00069	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	229	cd05075	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	215	cd05074	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	225	cd05035	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	200	cd05589	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	281	cd07830	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	255	cd07829	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	866	smart00221	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	191	smart00750	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	203	cd05071	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	222	cd05061	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	239	cd05056	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	205	cd05052	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	221	cd05062	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	266	cd05032	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	224	cd05036	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	203	cd05067	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	203	cd05070	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	203	cd05069	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	199	cd05082	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	206	cd05148	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	197	cd05083	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	214	cd05034	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	206	cd05039	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	209	cd05068	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	204	cd05073	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	204	cd05072	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	279	cd07866	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	210	cd05578	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	215	cd06648	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	215	cd06629	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	208	cd06630	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	224	cd06622	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	199	cd08219	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	239	cd05101	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	207	cd05078	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	217	cd06616	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	299	cd07840	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	255	cd07851	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	198	cd05115	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	685	cd00180	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	213	cd05042	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	811	cd05123	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	198	cd05608	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	210	cd05080	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	209	cd05066	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	225	cd05079	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	252	cd05038	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	245	cd05033	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	214	cd05081	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	211	cd05065	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	211	cd05108	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	211	cd05109	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	211	cd05111	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	202	cd05113	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	324	cd05106	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	206	cd08529	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	223	cd06610	103472027,NP_002011
2324	1718189	Disease	p.Pro1114Leu	VAR_018415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018415	- Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]	SWISS	794	smart00220	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	264	cd05098	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	238	cd06628	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	223	cd08223	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	245	cd06618	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	275	cd05053	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	258	cd05099	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	259	cd05100	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	364	cd05055	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	380	cd06606	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	268	cd06627	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	284	cd07841	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	233	cd06631	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	286	cd07832	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	269	cd06626	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	249	cd06632	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	251	cd05045	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	229	cd08530	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	322	cd05122	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	367	cd05107	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	365	cd05105	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	227	cd06617	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	276	cd06608	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	245	cd06612	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	225	cd05059	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	229	cd06613	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	223	cd05114	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	223	cd05112	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	500	cd05581	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	232	cd06625	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	294	cd06605	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	286	cd05580	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	240	cd05089	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	1107	COG0515	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	324	cd07833	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	296	cd06623	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	295	cd08217	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	225	cd08221	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	262	cd05118	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	233	cd05047	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	220	cd05116	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	227	cd05060	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	238	cd05087	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	295	cd08215	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	218	cd05084	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	217	cd05085	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	233	cd05086	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	241	cd05044	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	220	cd05041	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	237	cd05040	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	228	cd05570	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	231	cd05058	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	258	cd05037	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	481	cd00192	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	218	cd05582	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	231	cd08224	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	269	cd05043	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	249	cd07845	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	234	cd06917	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	261_G	cd06609	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	287	cd05057	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	305	cd05103	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	354	cd05054	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	303	cd05102	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	229	cd08229	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	240	cd06659	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	225	cd05605	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	253	cd07846	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	225	cd05577	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	233	cd05110	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	245	cd05088	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	233	cd06644	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	228	cd06651	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	233	cd05063	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	231	cd05064	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	259	cd05049	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	311	cd05046	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	315	cd05051	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	257	cd05050	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	299	cd05096	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	273	cd05095	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	263	cd05097	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	258	cd05094	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	244	cd05093	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	242_G	cd06611	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	246	cd05092	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	248	cd05090	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	248	cd05091	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	251	cd05048	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	272	cd06614	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	227_G	cd05077	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	349	cd05104	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	658	smart00219	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	449	pfam07714	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	392	pfam00069	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	251	cd05075	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	237	cd05074	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	247	cd05035	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	222_G	cd05589	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	341	cd07830	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	324	cd07829	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	1067	smart00221	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	214	smart00750	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	225	cd05071	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	244	cd05061	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	261	cd05056	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	227	cd05052	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	243	cd05062	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	289	cd05032	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	246	cd05036	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	251	cd05067	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	225	cd05070	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	225	cd05069	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	221	cd05082	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	261	cd05148	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	219	cd05083	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	236	cd05034	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	228	cd05039	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	231	cd05068	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	226	cd05073	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	226	cd05072	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	318	cd07866	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	239	cd05578	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	240	cd06648	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	235	cd06629	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	234	cd06630	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	249	cd06622	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	221	cd08219	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	261	cd05101	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	229	cd05078	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	253	cd06616	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	363	cd07840	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	287	cd07851	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	220	cd05115	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	825	cd00180	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	237	cd05042	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	844	cd05123	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	221	cd05608	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	246	cd05080	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	231	cd05066	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	248	cd05079	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	288	cd05038	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	267	cd05033	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	248	cd05081	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	233	cd05065	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	233	cd05108	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	233	cd05109	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	233	cd05111	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	224	cd05113	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	347	cd05106	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	227	cd08529	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	244	cd06610	103472027,NP_002011
2324	1718189	Disease	p.Pro1137Ser	VAR_018416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018416	- Juvenile hemangioma	SWISS	991	smart00220	103472027,NP_002011
2328	6166183	Disease	p.Glu32Lys	VAR_037306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037306	- Trimethylaminuria (TMAU) [MIM:602079]	SWISS	37	pfam07992	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Glu32Lys	VAR_037306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037306	- Trimethylaminuria (TMAU) [MIM:602079]	SWISS	45	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Glu32Lys	VAR_037306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037306	- Trimethylaminuria (TMAU) [MIM:602079]	SWISS	31	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Ala52Thr	VAR_008146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008146	- Trimethylaminuria (TMAU) [MIM:602079]	SWISS	68	pfam07992	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Ala52Thr	VAR_008146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008146	- Trimethylaminuria (TMAU) [MIM:602079]	SWISS	72	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Ala52Thr	VAR_008146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008146	- Trimethylaminuria (TMAU) [MIM:602079]	SWISS	51	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Asn61Ser	VAR_037307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037307	- Trimethylaminuria (TMAU) [MIM:602079]	SWISS	77	pfam07992	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Asn61Ser	VAR_037307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037307	- Trimethylaminuria (TMAU) [MIM:602079]	SWISS	81	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Asn61Ser	VAR_037307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037307	- Trimethylaminuria (TMAU) [MIM:602079]	SWISS	60	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Met66Ile	VAR_002423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002423	- Trimethylaminuria (TMAU) [MIM:602079]	SWISS	82	pfam07992	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Met66Ile	VAR_002423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002423	- Trimethylaminuria (TMAU) [MIM:602079]	SWISS	86	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Met66Ile	VAR_002423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002423	- Trimethylaminuria (TMAU) [MIM:602079]	SWISS	65	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Pro153Leu	VAR_002424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002424	- Trimethylaminuria (TMAU) [MIM:602079]	SWISS	218	pfam07992	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Pro153Leu	VAR_002424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002424	- Trimethylaminuria (TMAU) [MIM:602079]	SWISS	198	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Pro153Leu	VAR_002424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002424	- Trimethylaminuria (TMAU) [MIM:602079]	SWISS	152	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Arg387Leu	VAR_008147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008147	- Trimethylaminuria (TMAU) [MIM:602079]	SWISS	516	COG2072	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Arg387Leu	VAR_008147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008147	- Trimethylaminuria (TMAU) [MIM:602079]	SWISS	386	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Met434Ile	VAR_037308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037308	- Trimethylaminuria (TMAU) [MIM:602079]	SWISS	435	pfam00743	50541961,NP_001002294|50541965,NP_008825
2328	6166183	Disease	p.Arg492Trp	VAR_008145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008145	- Trimethylaminuria (TMAU) [MIM:602079]	SWISS	493	pfam00743	50541961,NP_001002294|50541965,NP_008825
2332	544328	Disease	p.Ile304Asn	VAR_005234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005234	- Fragile X syndrome	SWISS	25	pfam00013	4503765,NP_002015
2335	300669710	Disease	p.Tyr973Cys	VAR_043918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043918	- Glomerulopathy with fibronectin deposits type 2 (GFND2) [MIM:601894]	SWISS	175	smart00060	NULL
2335	300669710	Disease	p.Tyr973Cys	VAR_043918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043918	- Glomerulopathy with fibronectin deposits type 2 (GFND2) [MIM:601894]	SWISS	155	cd00063	NULL
2335	300669710	Disease	p.Tyr973Cys	VAR_043918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043918	- Glomerulopathy with fibronectin deposits type 2 (GFND2) [MIM:601894]	SWISS	98	pfam00041	NULL
2335	300669710	Disease	p.Trp1834Arg	VAR_043919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043919	- Glomerulopathy with fibronectin deposits type 2 (GFND2) [MIM:601894]	SWISS	24	pfam00041	NULL
2335	300669710	Disease	p.Trp1834Arg	VAR_043919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043919	- Glomerulopathy with fibronectin deposits type 2 (GFND2) [MIM:601894]	SWISS	30	smart00060	NULL
2335	300669710	Disease	p.Trp1834Arg	VAR_043919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043919	- Glomerulopathy with fibronectin deposits type 2 (GFND2) [MIM:601894]	SWISS	43	cd00063	NULL
2335	300669710	Disease	p.Leu1883Arg	VAR_043920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043920	- Glomerulopathy with fibronectin deposits type 2 (GFND2) [MIM:601894]	SWISS	102	pfam00041	NULL
2335	300669710	Disease	p.Leu1883Arg	VAR_043920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043920	- Glomerulopathy with fibronectin deposits type 2 (GFND2) [MIM:601894]	SWISS	179	smart00060	NULL
2335	300669710	Disease	p.Leu1883Arg	VAR_043920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043920	- Glomerulopathy with fibronectin deposits type 2 (GFND2) [MIM:601894]	SWISS	159	cd00063	NULL
2296	13638267	Disease	p.Phe112Ser	VAR_007815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007815	- Iridogoniodysgenesis anomaly (IGDA) [MIM:601631]	SWISS	36	smart00339	119395716,NP_001444
2296	13638267	Disease	p.Phe112Ser	VAR_007815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007815	- Iridogoniodysgenesis anomaly (IGDA) [MIM:601631]	SWISS	36	cd00059	119395716,NP_001444
2296	13638267	Disease	p.Phe112Ser	VAR_007815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007815	- Iridogoniodysgenesis anomaly (IGDA) [MIM:601631]	SWISS	57	pfam00250	119395716,NP_001444
2296	13638267	Disease	p.Phe112Ser	VAR_007815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007815	- Peters anomaly [MIM:604229]	SWISS	36	smart00339	119395716,NP_001444
2296	13638267	Disease	p.Phe112Ser	VAR_007815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007815	- Peters anomaly [MIM:604229]	SWISS	36	cd00059	119395716,NP_001444
2296	13638267	Disease	p.Phe112Ser	VAR_007815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007815	- Peters anomaly [MIM:604229]	SWISS	57	pfam00250	119395716,NP_001444
2296	13638267	Disease	p.Leu130Phe	VAR_058730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058730	- Axenfeld-Rieger syndrome type 3 (RIEG3) [MIM:602482]	SWISS	80	smart00339	119395716,NP_001444
2296	13638267	Disease	p.Leu130Phe	VAR_058730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058730	- Axenfeld-Rieger syndrome type 3 (RIEG3) [MIM:602482]	SWISS	59	cd00059	119395716,NP_001444
2296	13638267	Disease	p.Leu130Phe	VAR_058730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058730	- Axenfeld-Rieger syndrome type 3 (RIEG3) [MIM:602482]	SWISS	75	pfam00250	119395716,NP_001444
2303	3024149	Disease	p.Ser125Leu	VAR_018418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018418	- Lymphedema-distichiasis (LYD) [MIM:153400]	SWISS	60	cd00059	4885237,NP_005242
2303	3024149	Disease	p.Ser125Leu	VAR_018418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018418	- Lymphedema-distichiasis (LYD) [MIM:153400]	SWISS	81	smart00339	4885237,NP_005242
2303	3024149	Disease	p.Ser125Leu	VAR_018418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018418	- Lymphedema-distichiasis (LYD) [MIM:153400]	SWISS	76	pfam00250	4885237,NP_005242
2304	206729921	Disease	p.Ser57Asn	VAR_016882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016882	rs28937575 Bamforth-Lazarus syndrome (BLS) [MIM:241850]	SWISS	5	cd00059	21618325,NP_004464
2304	206729921	Disease	p.Ser57Asn	VAR_016882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016882	rs28937575 Bamforth-Lazarus syndrome (BLS) [MIM:241850]	SWISS	5	smart00339	21618325,NP_004464
2304	206729921	Disease	p.Ser57Asn	VAR_016882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016882	rs28937575 Bamforth-Lazarus syndrome (BLS) [MIM:241850]	SWISS	26	pfam00250	21618325,NP_004464
2304	206729921	Disease	p.Ala65Val	VAR_008857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008857	- Bamforth-Lazarus syndrome (BLS) [MIM:241850]	SWISS	13	cd00059	21618325,NP_004464
2304	206729921	Disease	p.Ala65Val	VAR_008857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008857	- Bamforth-Lazarus syndrome (BLS) [MIM:241850]	SWISS	14	smart00339	21618325,NP_004464
2304	206729921	Disease	p.Ala65Val	VAR_008857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008857	- Bamforth-Lazarus syndrome (BLS) [MIM:241850]	SWISS	34	pfam00250	21618325,NP_004464
2301	12644406	Disease	p.Arg90Leu	VAR_062584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062584	- Anterior segment mesenchymal dysgenesis (ASMD) [MIM:107250]	SWISS	21	smart00339	11386197,NP_036318
2301	12644406	Disease	p.Arg90Leu	VAR_062584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062584	- Anterior segment mesenchymal dysgenesis (ASMD) [MIM:107250]	SWISS	42	pfam00250	11386197,NP_036318
2301	12644406	Disease	p.Arg90Leu	VAR_062584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062584	- Anterior segment mesenchymal dysgenesis (ASMD) [MIM:107250]	SWISS	21	cd00059	11386197,NP_036318
668	13626838	Disease	p.Ser58Leu	VAR_021196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021196	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	26	pfam00250	12751477,NP_075555
668	13626838	Disease	p.Ser58Leu	VAR_021196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021196	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	5	cd00059	12751477,NP_075555
668	13626838	Disease	p.Ser58Leu	VAR_021196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021196	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	5	smart00339	12751477,NP_075555
668	13626838	Disease	p.Ile63Thr	VAR_062545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062545	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	31	pfam00250	12751477,NP_075555
668	13626838	Disease	p.Ile63Thr	VAR_062545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062545	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	10	cd00059	12751477,NP_075555
668	13626838	Disease	p.Ile63Thr	VAR_062545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062545	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	11	smart00339	12751477,NP_075555
668	13626838	Disease	p.Met65Val	VAR_046490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046490	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	33	pfam00250	12751477,NP_075555
668	13626838	Disease	p.Met65Val	VAR_046490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046490	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	12	cd00059	12751477,NP_075555
668	13626838	Disease	p.Met65Val	VAR_046490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046490	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	13	smart00339	12751477,NP_075555
668	13626838	Disease	p.Ala66Val	VAR_021197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021197	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	34	pfam00250	12751477,NP_075555
668	13626838	Disease	p.Ala66Val	VAR_021197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021197	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	13	cd00059	12751477,NP_075555
668	13626838	Disease	p.Ala66Val	VAR_021197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021197	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	14	smart00339	12751477,NP_075555
668	13626838	Disease	p.Glu69Lys	VAR_021198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021198	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	37	pfam00250	12751477,NP_075555
668	13626838	Disease	p.Glu69Lys	VAR_021198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021198	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	16	cd00059	12751477,NP_075555
668	13626838	Disease	p.Glu69Lys	VAR_021198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021198	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	17	smart00339	12751477,NP_075555
668	13626838	Disease	p.Ile80Thr	VAR_046491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046491	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	49	pfam00250	12751477,NP_075555
668	13626838	Disease	p.Ile80Thr	VAR_046491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046491	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	28	cd00059	12751477,NP_075555
668	13626838	Disease	p.Ile80Thr	VAR_046491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046491	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	28	smart00339	12751477,NP_075555
668	13626838	Disease	p.Ile84Asn	VAR_046492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046492	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	53	pfam00250	12751477,NP_075555
668	13626838	Disease	p.Ile84Asn	VAR_046492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046492	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	32	cd00059	12751477,NP_075555
668	13626838	Disease	p.Ile84Asn	VAR_046492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046492	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	32	smart00339	12751477,NP_075555
668	13626838	Disease	p.Ile84Ser	VAR_016883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016883	rs28937884 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	53	pfam00250	12751477,NP_075555
668	13626838	Disease	p.Ile84Ser	VAR_016883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016883	rs28937884 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	32	cd00059	12751477,NP_075555
668	13626838	Disease	p.Ile84Ser	VAR_016883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016883	rs28937884 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	32	smart00339	12751477,NP_075555
668	13626838	Disease	p.Phe90Ser	VAR_046493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046493	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	59	pfam00250	12751477,NP_075555
668	13626838	Disease	p.Phe90Ser	VAR_046493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046493	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	38	cd00059	12751477,NP_075555
668	13626838	Disease	p.Phe90Ser	VAR_046493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046493	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	38	smart00339	12751477,NP_075555
668	13626838	Disease	p.Trp98Gly	VAR_046494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046494	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	67	pfam00250	12751477,NP_075555
668	13626838	Disease	p.Trp98Gly	VAR_046494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046494	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	51	cd00059	12751477,NP_075555
668	13626838	Disease	p.Trp98Gly	VAR_046494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046494	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	51	smart00339	12751477,NP_075555
668	13626838	Disease	p.Trp98Arg	VAR_062546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062546	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	67	pfam00250	12751477,NP_075555
668	13626838	Disease	p.Trp98Arg	VAR_062546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062546	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	51	cd00059	12751477,NP_075555
668	13626838	Disease	p.Trp98Arg	VAR_062546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062546	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	51	smart00339	12751477,NP_075555
668	13626838	Disease	p.Ser101Arg	VAR_046495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046495	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	70	pfam00250	12751477,NP_075555
668	13626838	Disease	p.Ser101Arg	VAR_046495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046495	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	54	cd00059	12751477,NP_075555
668	13626838	Disease	p.Ser101Arg	VAR_046495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046495	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	75	smart00339	12751477,NP_075555
668	13626838	Disease	p.Ile102Thr	VAR_046496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046496	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	71	pfam00250	12751477,NP_075555
668	13626838	Disease	p.Ile102Thr	VAR_046496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046496	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	55	cd00059	12751477,NP_075555
668	13626838	Disease	p.Ile102Thr	VAR_046496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046496	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	76	smart00339	12751477,NP_075555
668	13626838	Disease	p.Arg103Cys	VAR_046497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046497	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	72	pfam00250	12751477,NP_075555
668	13626838	Disease	p.Arg103Cys	VAR_046497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046497	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	56	cd00059	12751477,NP_075555
668	13626838	Disease	p.Arg103Cys	VAR_046497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046497	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	77	smart00339	12751477,NP_075555
668	13626838	Disease	p.His104Arg	VAR_021199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021199	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	73	pfam00250	12751477,NP_075555
668	13626838	Disease	p.His104Arg	VAR_021199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021199	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	57	cd00059	12751477,NP_075555
668	13626838	Disease	p.His104Arg	VAR_021199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021199	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	78	smart00339	12751477,NP_075555
668	13626838	Disease	p.Asn105Ser	VAR_021200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021200	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	74	pfam00250	12751477,NP_075555
668	13626838	Disease	p.Asn105Ser	VAR_021200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021200	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	58	cd00059	12751477,NP_075555
668	13626838	Disease	p.Asn105Ser	VAR_021200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021200	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	79	smart00339	12751477,NP_075555
668	13626838	Disease	p.Leu106Phe	VAR_016885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016885	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	75	pfam00250	12751477,NP_075555
668	13626838	Disease	p.Leu106Phe	VAR_016885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016885	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	59	cd00059	12751477,NP_075555
668	13626838	Disease	p.Leu106Phe	VAR_016885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016885	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	80	smart00339	12751477,NP_075555
668	13626838	Disease	p.Leu106Pro	VAR_046498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046498	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	75	pfam00250	12751477,NP_075555
668	13626838	Disease	p.Leu106Pro	VAR_046498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046498	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	59	cd00059	12751477,NP_075555
668	13626838	Disease	p.Leu106Pro	VAR_046498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046498	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	80	smart00339	12751477,NP_075555
668	13626838	Disease	p.Leu108Pro	VAR_062547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062547	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	77	pfam00250	12751477,NP_075555
668	13626838	Disease	p.Leu108Pro	VAR_062547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062547	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	61	cd00059	12751477,NP_075555
668	13626838	Disease	p.Leu108Pro	VAR_062547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062547	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	82	smart00339	12751477,NP_075555
668	13626838	Disease	p.Asn109Lys	VAR_016886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016886	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	78	pfam00250	12751477,NP_075555
668	13626838	Disease	p.Asn109Lys	VAR_016886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016886	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	62	cd00059	12751477,NP_075555
668	13626838	Disease	p.Asn109Lys	VAR_016886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016886	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	83	smart00339	12751477,NP_075555
668	13626838	Disease	p.Gly187Asp	VAR_015181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015181	- Premature ovarian failure type 3 (POF3) [MIM:608996]	SWISS	No Domain	N/A	12751477,NP_075555
668	13626838	Disease	p.Lys193Arg	VAR_021202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021202	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	No Domain	N/A	12751477,NP_075555
668	13626838	Disease	p.Tyr215Cys	VAR_021203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021203	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	No Domain	N/A	12751477,NP_075555
668	13626838	Disease	p.Ser217Cys	VAR_062549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062549	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	No Domain	N/A	12751477,NP_075555
668	13626838	Disease	p.Ser217Phe	VAR_016887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016887	- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]	SWISS	No Domain	N/A	12751477,NP_075555
668	13626838	Disease	p.Tyr258Asn	VAR_021204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021204	rs28937885 Premature ovarian failure type 3 (POF3) [MIM:608996]	SWISS	No Domain	N/A	12751477,NP_075555
93986	17432967	Disease	p.Arg553His	VAR_012278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012278	- Speech-language disorder 1 (SPCH1) [MIM:602081]	SWISS	77	smart00339	17017963,NP_055306
93986	17432967	Disease	p.Arg553His	VAR_012278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012278	- Speech-language disorder 1 (SPCH1) [MIM:602081]	SWISS	72	pfam00250	17017963,NP_055306
93986	17432967	Disease	p.Arg553His	VAR_012278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012278	- Speech-language disorder 1 (SPCH1) [MIM:602081]	SWISS	56	cd00059	17017963,NP_055306
50943	14548061	Disease	p.Ile363Val	VAR_023569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023569	- Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]	SWISS	28	cd00059	31982943,NP_054728
50943	14548061	Disease	p.Ile363Val	VAR_023569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023569	- Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]	SWISS	28	smart00339	31982943,NP_054728
50943	14548061	Disease	p.Ile363Val	VAR_023569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023569	- Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]	SWISS	49	pfam00250	31982943,NP_054728
50943	14548061	Disease	p.Phe371Cys	VAR_011331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011331	- Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]	SWISS	36	cd00059	31982943,NP_054728
50943	14548061	Disease	p.Phe371Cys	VAR_011331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011331	- Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]	SWISS	36	smart00339	31982943,NP_054728
50943	14548061	Disease	p.Phe371Cys	VAR_011331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011331	- Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]	SWISS	57	pfam00250	31982943,NP_054728
50943	14548061	Disease	p.Ala384Thr	VAR_011332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011332	- Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]	SWISS	54	cd00059	31982943,NP_054728
50943	14548061	Disease	p.Ala384Thr	VAR_011332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011332	- Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]	SWISS	75	smart00339	31982943,NP_054728
50943	14548061	Disease	p.Ala384Thr	VAR_011332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011332	- Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]	SWISS	70	pfam00250	31982943,NP_054728
50943	14548061	Disease	p.Arg397Trp	VAR_011333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011333	rs28935477 Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]	SWISS	67	cd00059	31982943,NP_054728
50943	14548061	Disease	p.Arg397Trp	VAR_011333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011333	rs28935477 Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]	SWISS	88	smart00339	31982943,NP_054728
50943	14548061	Disease	p.Arg397Trp	VAR_011333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011333	rs28935477 Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]	SWISS	83	pfam00250	31982943,NP_054728
158326	215274141	Disease	p.Arg649Trp	VAR_063422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063422	- Bifid nose with or without anorectal and renal anomalies (BNAR) [MIM:608980]	SWISS	No Domain	N/A	122056683,NP_659403
158326	215274141	Disease	p.Gly1440Ser	VAR_063423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063423	- Bifid nose with or without anorectal and renal anomalies (BNAR) [MIM:608980]	SWISS	No Domain	N/A	122056683,NP_659403
341640	73620903	Disease	p.Glu1972Lys	VAR_023201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023201	- Fraser syndrome [MIM:219000]	SWISS	97	smart00237	79749430,NP_997244
341640	73620903	Disease	p.Glu1972Lys	VAR_023201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023201	- Fraser syndrome [MIM:219000]	SWISS	96	pfam03160	79749430,NP_997244
90167	74749680	Disease	p.Gly24Glu	VAR_028951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028951	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	27	pfam09379	34916000,NP_919253
90167	74749680	Disease	p.Gly24Glu	VAR_028951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028951	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	67	smart00295	34916000,NP_919253
90167	74749680	Disease	p.Gly24Arg	VAR_028952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028952	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	27	pfam09379	34916000,NP_919253
90167	74749680	Disease	p.Gly24Arg	VAR_028952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028952	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	67	smart00295	34916000,NP_919253
90167	74749680	Disease	p.Gly24Trp	VAR_062651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062651	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	27	pfam09379	34916000,NP_919253
90167	74749680	Disease	p.Gly24Trp	VAR_062651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062651	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	67	smart00295	34916000,NP_919253
90167	74749680	Disease	p.Leu142Arg	VAR_028953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028953	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	604	smart00295	34916000,NP_919253
90167	74749680	Disease	p.Leu142Arg	VAR_028953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028953	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	71	pfam00373	34916000,NP_919253
90167	74749680	Disease	p.Arg146Trp	VAR_062652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062652	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	621	smart00295	34916000,NP_919253
90167	74749680	Disease	p.Arg146Trp	VAR_062652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062652	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	261	pfam00373	34916000,NP_919253
90167	74749680	Disease	p.Asn221Asp	VAR_028954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028954	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	54	cd00836	34916000,NP_919253
90167	74749680	Disease	p.Asn221Asp	VAR_028954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028954	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	40	pfam09380	34916000,NP_919253
90167	74749680	Disease	p.Trp225Gly	VAR_062653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062653	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	58	cd00836	34916000,NP_919253
90167	74749680	Disease	p.Trp225Gly	VAR_062653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062653	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	47	pfam09380	34916000,NP_919253
90167	74749680	Disease	p.Ala226Thr	VAR_028955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028955	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	59	cd00836	34916000,NP_919253
90167	74749680	Disease	p.Ala226Thr	VAR_028955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028955	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	48	pfam09380	34916000,NP_919253
90167	74749680	Disease	p.Arg229Cys	VAR_062654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062654	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	62	cd00836	34916000,NP_919253
90167	74749680	Disease	p.Arg229Cys	VAR_062654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062654	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	51	pfam09380	34916000,NP_919253
90167	74749680	Disease	p.Arg229Gly	VAR_062655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062655	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	62	cd00836	34916000,NP_919253
90167	74749680	Disease	p.Arg229Gly	VAR_062655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062655	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	51	pfam09380	34916000,NP_919253
90167	74749680	Disease	p.Leu231Val	VAR_028956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028956	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	64	cd00836	34916000,NP_919253
90167	74749680	Disease	p.Leu231Val	VAR_028956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028956	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	53	pfam09380	34916000,NP_919253
90167	74749680	Disease	p.Arg261Gly	VAR_062656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062656	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	104	cd00836	34916000,NP_919253
90167	74749680	Disease	p.Arg261Gly	VAR_062656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062656	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	203	pfam09380	34916000,NP_919253
90167	74749680	Disease	p.Arg261Gln	VAR_062657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062657	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	104	cd00836	34916000,NP_919253
90167	74749680	Disease	p.Arg261Gln	VAR_062657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062657	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	203	pfam09380	34916000,NP_919253
90167	74749680	Disease	p.Ala266Pro	VAR_028957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028957	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	109	cd00836	34916000,NP_919253
90167	74749680	Disease	p.Ala266Pro	VAR_028957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028957	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	210	pfam09380	34916000,NP_919253
90167	74749680	Disease	p.Cys271Phe	VAR_062658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062658	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	114	cd00836	34916000,NP_919253
90167	74749680	Disease	p.Cys271Phe	VAR_062658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062658	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	215	pfam09380	34916000,NP_919253
90167	74749680	Disease	p.Cys271Tyr	VAR_028958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028958	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	114	cd00836	34916000,NP_919253
90167	74749680	Disease	p.Cys271Tyr	VAR_028958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028958	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	215	pfam09380	34916000,NP_919253
90167	74749680	Disease	p.His275Pro	VAR_062659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062659	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	118	cd00836	34916000,NP_919253
90167	74749680	Disease	p.His275Pro	VAR_062659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062659	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	219	pfam09380	34916000,NP_919253
90167	74749680	Disease	p.Gly296Arg	VAR_062660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062660	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	9	pfam08736	34916000,NP_919253
90167	74749680	Disease	p.Tyr301Cys	VAR_028960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028960	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	15	pfam08736	34916000,NP_919253
90167	74749680	Disease	p.Ser340Leu	VAR_028961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028961	- X-linked congenital nystagmus 1 (NYS1) [MIM:310700]	SWISS	No Domain	N/A	34916000,NP_919253
2488	120552	Disease	p.Cys69Gly	VAR_033015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033015	rs5030776 Isolated follicle-stimulating hormone deficiency (IFSHD) [MIM:229070]	SWISS	57	pfam00007	66528995,NP_001018090|4503791,NP_000501
2488	120552	Disease	p.Cys69Gly	VAR_033015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033015	rs5030776 Isolated follicle-stimulating hormone deficiency (IFSHD) [MIM:229070]	SWISS	51	cd00069	66528995,NP_001018090|4503791,NP_000501
2488	120552	Disease	p.Cys69Gly	VAR_033015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033015	rs5030776 Isolated follicle-stimulating hormone deficiency (IFSHD) [MIM:229070]	SWISS	59	smart00068	66528995,NP_001018090|4503791,NP_000501
2492	311033420	Disease	p.Ser128Tyr	VAR_039279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039279	- Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]	SWISS	No Domain	N/A	NULL
2492	311033420	Disease	p.Ile160Thr	VAR_018045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018045	- Ovarian dysgenesis type 1 (ODG1) [MIM:233300]	SWISS	No Domain	N/A	NULL
2492	311033420	Disease	p.Ala189Val	VAR_018046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018046	- Ovarian dysgenesis type 1 (ODG1) [MIM:233300]	SWISS	No Domain	N/A	NULL
2492	311033420	Disease	p.Asp224Val	VAR_039280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039280	- Ovarian dysgenesis type 1 (ODG1) [MIM:233300]	SWISS	No Domain	N/A	NULL
2492	311033420	Disease	p.Pro348Arg	VAR_039281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039281	- Ovarian dysgenesis type 1 (ODG1) [MIM:233300]	SWISS	83	pfam12369	NULL
2492	311033420	Disease	p.Ala419Thr	VAR_018047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018047	- Ovarian dysgenesis type 1 (ODG1) [MIM:233300]	SWISS	39	pfam00001	NULL
2492	311033420	Disease	p.Thr449Ala	VAR_039282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039282	- Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]	SWISS	74	pfam00001	NULL
2492	311033420	Disease	p.Thr449Ile	VAR_017244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017244	rs28928870 Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]	SWISS	74	pfam00001	NULL
2492	311033420	Disease	p.Pro519Thr	VAR_039283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039283	- Ovarian dysgenesis type 1 (ODG1) [MIM:233300]	SWISS	161	pfam00001	NULL
2492	311033420	Disease	p.Ile545Thr	VAR_039284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039284	- Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]	SWISS	197	pfam00001	NULL
2492	311033420	Disease	p.Asp567Asn	VAR_017245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017245	rs28928871 Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]	SWISS	361	pfam00001	NULL
2492	311033420	Disease	p.Arg573Cys	VAR_018048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018048	- Ovarian dysgenesis type 1 (ODG1) [MIM:233300]	SWISS	367	pfam00001	NULL
2492	311033420	Disease	p.Leu601Val	VAR_039286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039286	- Ovarian dysgenesis type 1 (ODG1) [MIM:233300]	SWISS	395	pfam00001	NULL
10841	8134464	Disease	p.Arg135Cys	VAR_015887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015887	rs28941768 Glutamate formiminotransferase deficiency [MIM:229100]	SWISS	135	COG3643	11140815,NP_006648|46255035,NP_996848
10841	8134464	Disease	p.Arg135Cys	VAR_015887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015887	rs28941768 Glutamate formiminotransferase deficiency [MIM:229100]	SWISS	146	pfam07837	11140815,NP_006648|46255035,NP_996848
10841	8134464	Disease	p.Arg299Pro	VAR_015888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015888	- Glutamate formiminotransferase deficiency [MIM:229100]	SWISS	299	COG3643	11140815,NP_006648|46255035,NP_996848
10841	8134464	Disease	p.Arg299Pro	VAR_015888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015888	- Glutamate formiminotransferase deficiency [MIM:229100]	SWISS	124	pfam02971	11140815,NP_006648|46255035,NP_996848
2512	120523	Disease	p.Ala96Thr	VAR_026633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026633	- Neuroferritinopathy [MIM:606159]	SWISS	90	COG1528	20149498,NP_000137
2512	120523	Disease	p.Ala96Thr	VAR_026633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026633	- Neuroferritinopathy [MIM:606159]	SWISS	135	cd01056	20149498,NP_000137
2512	120523	Disease	p.Ala96Thr	VAR_026633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026633	- Neuroferritinopathy [MIM:606159]	SWISS	87	cd00904	20149498,NP_000137
2512	120523	Disease	p.Ala96Thr	VAR_026633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026633	- Neuroferritinopathy [MIM:606159]	SWISS	89	cd01055	20149498,NP_000137
2512	120523	Disease	p.Ala96Thr	VAR_026633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026633	- Neuroferritinopathy [MIM:606159]	SWISS	203	pfam00210	20149498,NP_000137
79068	148841515	Disease	p.Arg316Gln	VAR_063252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063252	- Growth retardation developmental delay coarse facies and early death (GRDDCFED) [MIM:612938]	SWISS	No Domain	N/A	122937263,NP_001073901
2517	156631012	Disease	p.Gly65Asp	VAR_002442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002442	- Fucosidosis (FUCA1D) [MIM:230000]	SWISS	3	COG3669	119360348,NP_000138
2517	156631012	Disease	p.Gly65Asp	VAR_002442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002442	- Fucosidosis (FUCA1D) [MIM:230000]	SWISS	45	smart00812	119360348,NP_000138
2517	156631012	Disease	p.Gly65Asp	VAR_002442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002442	- Fucosidosis (FUCA1D) [MIM:230000]	SWISS	101	pfam01120	119360348,NP_000138
2517	156631012	Disease	p.Ser68Leu	VAR_002443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002443	- Fucosidosis (FUCA1D) [MIM:230000]	SWISS	6	COG3669	119360348,NP_000138
2517	156631012	Disease	p.Ser68Leu	VAR_002443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002443	- Fucosidosis (FUCA1D) [MIM:230000]	SWISS	48	smart00812	119360348,NP_000138
2517	156631012	Disease	p.Ser68Leu	VAR_002443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002443	- Fucosidosis (FUCA1D) [MIM:230000]	SWISS	104	pfam01120	119360348,NP_000138
2517	156631012	Disease	p.Leu410Arg	VAR_016235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016235	- Fucosidosis (FUCA1D) [MIM:230000]	SWISS	448	COG3669	119360348,NP_000138
2517	156631012	Disease	p.Leu410Arg	VAR_016235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016235	- Fucosidosis (FUCA1D) [MIM:230000]	SWISS	919	smart00812	119360348,NP_000138
2521	544357	Disease	p.Arg244Cys	VAR_054837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054837	- Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]	SWISS	No Domain	N/A	4826734,NP_004951
2521	544357	Disease	p.Arg514Gly	VAR_054838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054838	- Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]	SWISS	No Domain	N/A	4826734,NP_004951
2521	544357	Disease	p.Arg514Ser	VAR_054839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054839	- Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]	SWISS	No Domain	N/A	4826734,NP_004951
2521	544357	Disease	p.Gly515Cys	VAR_054840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054840	- Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]	SWISS	No Domain	N/A	4826734,NP_004951
2521	544357	Disease	p.Arg518Lys	VAR_054842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054842	- Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]	SWISS	No Domain	N/A	4826734,NP_004951
2521	544357	Disease	p.Arg521Cys	VAR_054843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054843	- Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]	SWISS	No Domain	N/A	4826734,NP_004951
2521	544357	Disease	p.Arg521Gly	VAR_054844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054844	- Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]	SWISS	No Domain	N/A	4826734,NP_004951
2521	544357	Disease	p.Arg521His	VAR_054845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054845	- Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]	SWISS	No Domain	N/A	4826734,NP_004951
2521	544357	Disease	p.Arg522Gly	VAR_054846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054846	- Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]	SWISS	No Domain	N/A	4826734,NP_004951
2521	544357	Disease	p.Arg524Ser	VAR_054847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054847	- Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]	SWISS	No Domain	N/A	4826734,NP_004951
2521	544357	Disease	p.Arg524Thr	VAR_054848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054848	- Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]	SWISS	No Domain	N/A	4826734,NP_004951
2521	544357	Disease	p.Pro525Leu	VAR_054849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054849	- Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]	SWISS	No Domain	N/A	4826734,NP_004951
2395	6166193	Disease	p.Leu106Ser	VAR_016065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016065	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	17	cd00503	31077081,NP_000135
2395	6166193	Disease	p.Leu106Ser	VAR_016065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016065	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	17	COG1965	31077081,NP_000135
2395	6166193	Disease	p.Leu106Ser	VAR_016065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016065	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	17	pfam01491	31077081,NP_000135
2395	6166193	Disease	p.Asp122Tyr	VAR_002428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002428	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	33	cd00503	31077081,NP_000135
2395	6166193	Disease	p.Asp122Tyr	VAR_002428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002428	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	32	COG1965	31077081,NP_000135
2395	6166193	Disease	p.Asp122Tyr	VAR_002428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002428	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	54	pfam01491	31077081,NP_000135
2395	6166193	Disease	p.Gly130Val	VAR_002429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002429	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	41	cd00503	31077081,NP_000135
2395	6166193	Disease	p.Gly130Val	VAR_002429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002429	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	40	COG1965	31077081,NP_000135
2395	6166193	Disease	p.Gly130Val	VAR_002429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002429	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	65	pfam01491	31077081,NP_000135
2395	6166193	Disease	p.Ile154Phe	VAR_002430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002430	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	65	cd00503	31077081,NP_000135
2395	6166193	Disease	p.Ile154Phe	VAR_002430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002430	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	63	COG1965	31077081,NP_000135
2395	6166193	Disease	p.Ile154Phe	VAR_002430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002430	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	92	pfam01491	31077081,NP_000135
2395	6166193	Disease	p.Trp155Arg	VAR_002431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002431	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	66	cd00503	31077081,NP_000135
2395	6166193	Disease	p.Trp155Arg	VAR_002431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002431	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	64	COG1965	31077081,NP_000135
2395	6166193	Disease	p.Trp155Arg	VAR_002431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002431	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	93	pfam01491	31077081,NP_000135
2395	6166193	Disease	p.Arg165Cys	VAR_008139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008139	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	76	cd00503	31077081,NP_000135
2395	6166193	Disease	p.Arg165Cys	VAR_008139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008139	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	74	COG1965	31077081,NP_000135
2395	6166193	Disease	p.Arg165Cys	VAR_008139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008139	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	111	pfam01491	31077081,NP_000135
2395	6166193	Disease	p.Leu182Phe	VAR_008140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008140	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	100	cd00503	31077081,NP_000135
2395	6166193	Disease	p.Leu182Phe	VAR_008140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008140	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	93	COG1965	31077081,NP_000135
2395	6166193	Disease	p.Leu182Phe	VAR_008140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008140	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	157	pfam01491	31077081,NP_000135
2395	6166193	Disease	p.Leu198Arg	VAR_016066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016066	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	117	cd00503	31077081,NP_000135
2395	6166193	Disease	p.Leu198Arg	VAR_016066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016066	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	109	COG1965	31077081,NP_000135
2395	6166193	Disease	p.Leu198Arg	VAR_016066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016066	- Friedreich ataxia (FRDA) [MIM:229300]	SWISS	173	pfam01491	31077081,NP_000135
486	20141251	Disease	p.Gly41Arg	VAR_013280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013280	rs28938168 Hypomagnesemia type 2 (HOMG2) [MIM:154020]	SWISS	31	pfam02038	11125766,NP_001671
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	64	cd07441	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	69	cd07447	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	65	cd07448	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	69	cd07443	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	78	pfam01392	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	73	smart00063	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	65	cd07450	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	69	cd07444	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	71	cd07452	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	63	cd07457	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	63	cd07458	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	65	cd07453	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	109	cd07066	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	62	cd07456	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	64	cd07888	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	65	cd07454	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	65	cd07449	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	65	cd07465	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	65	cd07464	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	65	cd07466	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	65	cd07445	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	65	cd07461	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	65	cd07442	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	67	cd07446	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	65	cd07460	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	65	cd07462	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	65	cd07463	22547161,NP_036325
8322	62298045	Disease	p.Met105Val	VAR_038947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038947	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	67	cd07455	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	117	cd07441	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	118	cd07448	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	117	cd07443	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	163	pfam01392	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	131	smart00063	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	122	cd07450	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	118	cd07444	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	117	cd07452	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	122	cd07457	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	127	cd07458	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	113	cd07453	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	219	cd07066	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	117	cd07456	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	116	cd07888	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	114	cd07454	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	116	cd07449	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	115	cd07465	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	115	cd07464	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	116	cd07466	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	119	cd07445	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	117	cd07461	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	116	cd07442	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	116	cd07446	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	118	cd07460	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	117	cd07462	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	117	cd07463	22547161,NP_036325
8322	62298045	Disease	p.Met157Val	VAR_038948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038948	- Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]	SWISS	116	cd07455	22547161,NP_036325
2538	206729864	Disease	p.Met5Arg	VAR_046249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046249	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	4	COG0671	NULL
2538	206729864	Disease	p.Thr16Ala	VAR_046250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046250	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	15	COG0671	NULL
2538	206729864	Disease	p.Thr16Arg	VAR_046251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046251	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	15	COG0671	NULL
2538	206729864	Disease	p.Gln20Arg	VAR_009202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009202	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	23	COG0671	NULL
2538	206729864	Disease	p.Asp38Val	VAR_005237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005237	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	41	COG0671	NULL
2538	206729864	Disease	p.Gln54Pro	VAR_009203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009203	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	17	cd03381	NULL
2538	206729864	Disease	p.Gln54Pro	VAR_009203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009203	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	69	COG0671	NULL
2538	206729864	Disease	p.Trp63Arg	VAR_046252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046252	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	26	cd03381	NULL
2538	206729864	Disease	p.Trp63Arg	VAR_046252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046252	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	7	pfam01569	NULL
2538	206729864	Disease	p.Trp63Arg	VAR_046252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046252	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	2	smart00014	NULL
2538	206729864	Disease	p.Trp63Arg	VAR_046252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046252	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	95	COG0671	NULL
2538	206729864	Disease	p.Trp63Arg	VAR_046252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046252	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	10	cd01610	NULL
2538	206729864	Disease	p.Ala65Pro	VAR_046253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046253	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	28	cd03381	NULL
2538	206729864	Disease	p.Ala65Pro	VAR_046253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046253	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	9	pfam01569	NULL
2538	206729864	Disease	p.Ala65Pro	VAR_046253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046253	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	6	smart00014	NULL
2538	206729864	Disease	p.Ala65Pro	VAR_046253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046253	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	97	COG0671	NULL
2538	206729864	Disease	p.Ala65Pro	VAR_046253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046253	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	12	cd01610	NULL
2538	206729864	Disease	p.Gly68Arg	VAR_046254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046254	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	31	cd03381	NULL
2538	206729864	Disease	p.Gly68Arg	VAR_046254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046254	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	25	pfam01569	NULL
2538	206729864	Disease	p.Gly68Arg	VAR_046254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046254	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	9	smart00014	NULL
2538	206729864	Disease	p.Gly68Arg	VAR_046254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046254	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	100	COG0671	NULL
2538	206729864	Disease	p.Gly68Arg	VAR_046254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046254	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	15	cd01610	NULL
2538	206729864	Disease	p.Lys76Asn	VAR_046255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046255	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	40	cd03381	NULL
2538	206729864	Disease	p.Lys76Asn	VAR_046255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046255	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	49	pfam01569	NULL
2538	206729864	Disease	p.Lys76Asn	VAR_046255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046255	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	22	smart00014	NULL
2538	206729864	Disease	p.Lys76Asn	VAR_046255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046255	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	128	COG0671	NULL
2538	206729864	Disease	p.Lys76Asn	VAR_046255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046255	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	46	cd01610	NULL
2538	206729864	Disease	p.Trp77Arg	VAR_005238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005238	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	41	cd03381	NULL
2538	206729864	Disease	p.Trp77Arg	VAR_005238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005238	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	50	pfam01569	NULL
2538	206729864	Disease	p.Trp77Arg	VAR_005238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005238	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	23	smart00014	NULL
2538	206729864	Disease	p.Trp77Arg	VAR_005238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005238	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	129	COG0671	NULL
2538	206729864	Disease	p.Trp77Arg	VAR_005238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005238	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	47	cd01610	NULL
2538	206729864	Disease	p.Gly81Arg	VAR_009204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009204	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	45	cd03381	NULL
2538	206729864	Disease	p.Gly81Arg	VAR_009204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009204	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	56	pfam01569	NULL
2538	206729864	Disease	p.Gly81Arg	VAR_009204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009204	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	31	smart00014	NULL
2538	206729864	Disease	p.Gly81Arg	VAR_009204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009204	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	133	COG0671	NULL
2538	206729864	Disease	p.Gly81Arg	VAR_009204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009204	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	53	cd01610	NULL
2538	206729864	Disease	p.Arg83Cys	VAR_005239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005239	rs1801175 Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	47	cd03381	NULL
2538	206729864	Disease	p.Arg83Cys	VAR_005239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005239	rs1801175 Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	60	pfam01569	NULL
2538	206729864	Disease	p.Arg83Cys	VAR_005239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005239	rs1801175 Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	33	smart00014	NULL
2538	206729864	Disease	p.Arg83Cys	VAR_005239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005239	rs1801175 Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	135	COG0671	NULL
2538	206729864	Disease	p.Arg83Cys	VAR_005239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005239	rs1801175 Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	55	cd01610	NULL
2538	206729864	Disease	p.Arg83His	VAR_005240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005240	rs1801176 Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	47	cd03381	NULL
2538	206729864	Disease	p.Arg83His	VAR_005240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005240	rs1801176 Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	60	pfam01569	NULL
2538	206729864	Disease	p.Arg83His	VAR_005240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005240	rs1801176 Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	33	smart00014	NULL
2538	206729864	Disease	p.Arg83His	VAR_005240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005240	rs1801176 Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	135	COG0671	NULL
2538	206729864	Disease	p.Arg83His	VAR_005240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005240	rs1801176 Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	55	cd01610	NULL
2538	206729864	Disease	p.Arg83Ile	VAR_005241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005241	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	47	cd03381	NULL
2538	206729864	Disease	p.Arg83Ile	VAR_005241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005241	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	60	pfam01569	NULL
2538	206729864	Disease	p.Arg83Ile	VAR_005241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005241	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	33	smart00014	NULL
2538	206729864	Disease	p.Arg83Ile	VAR_005241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005241	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	135	COG0671	NULL
2538	206729864	Disease	p.Arg83Ile	VAR_005241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005241	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	55	cd01610	NULL
2538	206729864	Disease	p.Thr108Ile	VAR_009205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009205	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	75	cd03381	NULL
2538	206729864	Disease	p.Thr108Ile	VAR_009205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009205	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	131	pfam01569	NULL
2538	206729864	Disease	p.Thr108Ile	VAR_009205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009205	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	117	smart00014	NULL
2538	206729864	Disease	p.Thr108Ile	VAR_009205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009205	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	173	COG0671	NULL
2538	206729864	Disease	p.Thr108Ile	VAR_009205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009205	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	154	cd01610	NULL
2538	206729864	Disease	p.Glu110Lys	VAR_005242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005242	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	77	cd03381	NULL
2538	206729864	Disease	p.Glu110Lys	VAR_005242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005242	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	133	pfam01569	NULL
2538	206729864	Disease	p.Glu110Lys	VAR_005242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005242	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	119	smart00014	NULL
2538	206729864	Disease	p.Glu110Lys	VAR_005242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005242	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	190	COG0671	NULL
2538	206729864	Disease	p.Glu110Lys	VAR_005242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005242	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	156	cd01610	NULL
2538	206729864	Disease	p.Thr111Ile	VAR_046256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046256	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	78	cd03381	NULL
2538	206729864	Disease	p.Thr111Ile	VAR_046256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046256	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	134	pfam01569	NULL
2538	206729864	Disease	p.Thr111Ile	VAR_046256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046256	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	120	smart00014	NULL
2538	206729864	Disease	p.Thr111Ile	VAR_046256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046256	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	191	COG0671	NULL
2538	206729864	Disease	p.Thr111Ile	VAR_046256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046256	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	157	cd01610	NULL
2538	206729864	Disease	p.Pro113Leu	VAR_046257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046257	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	80	cd03381	NULL
2538	206729864	Disease	p.Pro113Leu	VAR_046257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046257	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	136	pfam01569	NULL
2538	206729864	Disease	p.Pro113Leu	VAR_046257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046257	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	122	smart00014	NULL
2538	206729864	Disease	p.Pro113Leu	VAR_046257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046257	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	193	COG0671	NULL
2538	206729864	Disease	p.Pro113Leu	VAR_046257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046257	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	159	cd01610	NULL
2538	206729864	Disease	p.His119Leu	VAR_046258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046258	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	86	cd03381	NULL
2538	206729864	Disease	p.His119Leu	VAR_046258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046258	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	158	pfam01569	NULL
2538	206729864	Disease	p.His119Leu	VAR_046258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046258	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	128	smart00014	NULL
2538	206729864	Disease	p.His119Leu	VAR_046258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046258	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	199	COG0671	NULL
2538	206729864	Disease	p.His119Leu	VAR_046258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046258	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	165	cd01610	NULL
2538	206729864	Disease	p.Gly122Asp	VAR_046259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046259	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	89	cd03381	NULL
2538	206729864	Disease	p.Gly122Asp	VAR_046259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046259	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	164	pfam01569	NULL
2538	206729864	Disease	p.Gly122Asp	VAR_046259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046259	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	131	smart00014	NULL
2538	206729864	Disease	p.Gly122Asp	VAR_046259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046259	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	202	COG0671	NULL
2538	206729864	Disease	p.Gly122Asp	VAR_046259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046259	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	168	cd01610	NULL
2538	206729864	Disease	p.Ala124Thr	VAR_005243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005243	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	91	cd03381	NULL
2538	206729864	Disease	p.Ala124Thr	VAR_005243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005243	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	166	pfam01569	NULL
2538	206729864	Disease	p.Ala124Thr	VAR_005243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005243	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	133	smart00014	NULL
2538	206729864	Disease	p.Ala124Thr	VAR_005243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005243	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	204	COG0671	NULL
2538	206729864	Disease	p.Ala124Thr	VAR_005243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005243	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	170	cd01610	NULL
2538	206729864	Disease	p.Trp156Leu	VAR_009206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009206	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	148	cd03381	NULL
2538	206729864	Disease	p.Trp156Leu	VAR_009206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009206	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	273	pfam01569	NULL
2538	206729864	Disease	p.Trp156Leu	VAR_009206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009206	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	186	smart00014	NULL
2538	206729864	Disease	p.Trp156Leu	VAR_009206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009206	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	246	COG0671	NULL
2538	206729864	Disease	p.Trp156Leu	VAR_009206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009206	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	319	cd01610	NULL
2538	206729864	Disease	p.Val166Ala	VAR_046260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046260	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	158	cd03381	NULL
2538	206729864	Disease	p.Val166Ala	VAR_046260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046260	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	295	pfam01569	NULL
2538	206729864	Disease	p.Val166Ala	VAR_046260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046260	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	196	smart00014	NULL
2538	206729864	Disease	p.Val166Ala	VAR_046260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046260	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	256	COG0671	NULL
2538	206729864	Disease	p.Val166Ala	VAR_046260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046260	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	329	cd01610	NULL
2538	206729864	Disease	p.Val166Gly	VAR_005244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005244	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	158	cd03381	NULL
2538	206729864	Disease	p.Val166Gly	VAR_005244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005244	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	295	pfam01569	NULL
2538	206729864	Disease	p.Val166Gly	VAR_005244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005244	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	196	smart00014	NULL
2538	206729864	Disease	p.Val166Gly	VAR_005244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005244	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	256	COG0671	NULL
2538	206729864	Disease	p.Val166Gly	VAR_005244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005244	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	329	cd01610	NULL
2538	206729864	Disease	p.Arg170Gln	VAR_046261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046261	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	162	cd03381	NULL
2538	206729864	Disease	p.Arg170Gln	VAR_046261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046261	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	299	pfam01569	NULL
2538	206729864	Disease	p.Arg170Gln	VAR_046261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046261	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	200	smart00014	NULL
2538	206729864	Disease	p.Arg170Gln	VAR_046261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046261	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	260	COG0671	NULL
2538	206729864	Disease	p.Arg170Gln	VAR_046261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046261	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	333	cd01610	NULL
2538	206729864	Disease	p.Phe177Cys	VAR_046262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046262	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	169	cd03381	NULL
2538	206729864	Disease	p.Phe177Cys	VAR_046262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046262	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	306	pfam01569	NULL
2538	206729864	Disease	p.Phe177Cys	VAR_046262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046262	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	207	smart00014	NULL
2538	206729864	Disease	p.Phe177Cys	VAR_046262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046262	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	267	COG0671	NULL
2538	206729864	Disease	p.Phe177Cys	VAR_046262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046262	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	343	cd01610	NULL
2538	206729864	Disease	p.Pro178Ser	VAR_046263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046263	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	170	cd03381	NULL
2538	206729864	Disease	p.Pro178Ser	VAR_046263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046263	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	307	pfam01569	NULL
2538	206729864	Disease	p.Pro178Ser	VAR_046263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046263	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	208	smart00014	NULL
2538	206729864	Disease	p.Pro178Ser	VAR_046263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046263	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	268	COG0671	NULL
2538	206729864	Disease	p.Pro178Ser	VAR_046263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046263	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	344	cd01610	NULL
2538	206729864	Disease	p.His179Pro	VAR_046264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046264	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	171	cd03381	NULL
2538	206729864	Disease	p.His179Pro	VAR_046264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046264	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	308	pfam01569	NULL
2538	206729864	Disease	p.His179Pro	VAR_046264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046264	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	209	smart00014	NULL
2538	206729864	Disease	p.His179Pro	VAR_046264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046264	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	269	COG0671	NULL
2538	206729864	Disease	p.His179Pro	VAR_046264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046264	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	345	cd01610	NULL
2538	206729864	Disease	p.Gly184Glu	VAR_005245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005245	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	176	cd03381	NULL
2538	206729864	Disease	p.Gly184Glu	VAR_005245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005245	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	313	pfam01569	NULL
2538	206729864	Disease	p.Gly184Glu	VAR_005245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005245	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	214	smart00014	NULL
2538	206729864	Disease	p.Gly184Glu	VAR_005245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005245	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	274	COG0671	NULL
2538	206729864	Disease	p.Gly184Glu	VAR_005245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005245	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	398	cd01610	NULL
2538	206729864	Disease	p.Gly184Val	VAR_046265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046265	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	176	cd03381	NULL
2538	206729864	Disease	p.Gly184Val	VAR_046265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046265	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	313	pfam01569	NULL
2538	206729864	Disease	p.Gly184Val	VAR_046265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046265	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	214	smart00014	NULL
2538	206729864	Disease	p.Gly184Val	VAR_046265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046265	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	274	COG0671	NULL
2538	206729864	Disease	p.Gly184Val	VAR_046265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046265	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	398	cd01610	NULL
2538	206729864	Disease	p.Gly188Asp	VAR_009207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009207	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	180	cd03381	NULL
2538	206729864	Disease	p.Gly188Asp	VAR_009207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009207	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	321	pfam01569	NULL
2538	206729864	Disease	p.Gly188Asp	VAR_009207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009207	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	218	smart00014	NULL
2538	206729864	Disease	p.Gly188Asp	VAR_009207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009207	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	278	COG0671	NULL
2538	206729864	Disease	p.Gly188Asp	VAR_009207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009207	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	402	cd01610	NULL
2538	206729864	Disease	p.Gly188Arg	VAR_005246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005246	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	180	cd03381	NULL
2538	206729864	Disease	p.Gly188Arg	VAR_005246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005246	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	321	pfam01569	NULL
2538	206729864	Disease	p.Gly188Arg	VAR_005246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005246	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	218	smart00014	NULL
2538	206729864	Disease	p.Gly188Arg	VAR_005246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005246	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	278	COG0671	NULL
2538	206729864	Disease	p.Gly188Arg	VAR_005246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005246	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	402	cd01610	NULL
2538	206729864	Disease	p.Gly188Ser	VAR_046266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046266	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	180	cd03381	NULL
2538	206729864	Disease	p.Gly188Ser	VAR_046266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046266	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	321	pfam01569	NULL
2538	206729864	Disease	p.Gly188Ser	VAR_046266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046266	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	218	smart00014	NULL
2538	206729864	Disease	p.Gly188Ser	VAR_046266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046266	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	278	COG0671	NULL
2538	206729864	Disease	p.Gly188Ser	VAR_046266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046266	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	402	cd01610	NULL
2538	206729864	Disease	p.Tyr209Cys	VAR_046268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046268	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	204	cd03381	NULL
2538	206729864	Disease	p.Tyr209Cys	VAR_046268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046268	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	311	COG0671	NULL
2538	206729864	Disease	p.Leu211Pro	VAR_005247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005247	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	206	cd03381	NULL
2538	206729864	Disease	p.Leu211Pro	VAR_005247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005247	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	313	COG0671	NULL
2538	206729864	Disease	p.Gly222Arg	VAR_005248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005248	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	242	cd03381	NULL
2538	206729864	Disease	p.Trp236Arg	VAR_046269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046269	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	256	cd03381	NULL
2538	206729864	Disease	p.Ala241Thr	VAR_046270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046270	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	261	cd03381	NULL
2538	206729864	Disease	p.Pro257Leu	VAR_046271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046271	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	277	cd03381	NULL
2538	206729864	Disease	p.Asn264Lys	VAR_046272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046272	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	284	cd03381	NULL
2538	206729864	Disease	p.Leu265Pro	VAR_046273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046273	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	285	cd03381	NULL
2538	206729864	Disease	p.Gly266Val	VAR_005249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005249	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	286	cd03381	NULL
2538	206729864	Disease	p.Gly270Arg	VAR_046274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046274	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	290	cd03381	NULL
2538	206729864	Disease	p.Gly270Val	VAR_005250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005250	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	290	cd03381	NULL
2538	206729864	Disease	p.Gly270Trp	VAR_046275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046275	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	290	cd03381	NULL
2538	206729864	Disease	p.Arg295Cys	VAR_005251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005251	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	No Domain	N/A	NULL
2538	206729864	Disease	p.Ser298Pro	VAR_046276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046276	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	No Domain	N/A	NULL
2538	206729864	Disease	p.Phe322Leu	VAR_046277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046277	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	No Domain	N/A	NULL
2538	206729864	Disease	p.Val338Phe	VAR_005253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005253	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	No Domain	N/A	NULL
2538	206729864	Disease	p.Ile341Asn	VAR_005254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005254	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	No Domain	N/A	NULL
2538	206729864	Disease	p.Leu345Arg	VAR_046278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046278	- Glycogen storage disease type 1A (GSD1A) [MIM:232200]	SWISS	No Domain	N/A	NULL
92579	74733234	Disease	p.Leu185Pro	VAR_055156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055156	- Autosomal recessive severe congenital neutropenia type 4 (SCN4) [MIM:612541]	SWISS	186	cd03381	24308434,NP_612396
92579	74733234	Disease	p.Leu185Pro	VAR_055156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055156	- Autosomal recessive severe congenital neutropenia type 4 (SCN4) [MIM:612541]	SWISS	408	cd01610	24308434,NP_612396
92579	74733234	Disease	p.Leu185Pro	VAR_055156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055156	- Autosomal recessive severe congenital neutropenia type 4 (SCN4) [MIM:612541]	SWISS	201	cd03392	24308434,NP_612396
92579	74733234	Disease	p.Leu185Pro	VAR_055156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055156	- Autosomal recessive severe congenital neutropenia type 4 (SCN4) [MIM:612541]	SWISS	332	pfam01569	24308434,NP_612396
92579	74733234	Disease	p.Leu185Pro	VAR_055156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055156	- Autosomal recessive severe congenital neutropenia type 4 (SCN4) [MIM:612541]	SWISS	284	COG0671	24308434,NP_612396
92579	74733234	Disease	p.Leu185Pro	VAR_055156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055156	- Autosomal recessive severe congenital neutropenia type 4 (SCN4) [MIM:612541]	SWISS	234	cd03382	24308434,NP_612396
92579	74733234	Disease	p.Leu185Pro	VAR_055156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055156	- Autosomal recessive severe congenital neutropenia type 4 (SCN4) [MIM:612541]	SWISS	128	cd03393	24308434,NP_612396
92579	74733234	Disease	p.Leu185Pro	VAR_055156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055156	- Autosomal recessive severe congenital neutropenia type 4 (SCN4) [MIM:612541]	SWISS	224	smart00014	24308434,NP_612396
92579	74733234	Disease	p.Arg253His	VAR_055157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055157	- Autosomal recessive severe congenital neutropenia type 4 (SCN4) [MIM:612541]	SWISS	283	cd03381	24308434,NP_612396
92579	74733234	Disease	p.Gly262Arg	VAR_055158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055158	- Autosomal recessive severe congenital neutropenia type 4 (SCN4) [MIM:612541]	SWISS	292	cd03381	24308434,NP_612396
2539	116242483	Disease	p.Arg198Pro	VAR_002475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002475	- Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]	SWISS	192	pfam00479	108773793,NP_001035810
2539	116242483	Disease	p.Arg198Pro	VAR_002475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002475	- Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]	SWISS	195	COG0364	108773793,NP_001035810
2539	116242483	Disease	p.Arg387Cys	VAR_002498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002498	- Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]	SWISS	184	pfam02781	108773793,NP_001035810
2539	116242483	Disease	p.Arg387Cys	VAR_002498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002498	- Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]	SWISS	392	COG0364	108773793,NP_001035810
2539	116242483	Disease	p.Val394Leu	VAR_002500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002500	- Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]	SWISS	191	pfam02781	108773793,NP_001035810
2539	116242483	Disease	p.Val394Leu	VAR_002500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002500	- Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]	SWISS	411	COG0364	108773793,NP_001035810
2539	116242483	Disease	p.Gly410Asp	VAR_002504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002504	- Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]	SWISS	207	pfam02781	108773793,NP_001035810
2539	116242483	Disease	p.Gly410Asp	VAR_002504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002504	- Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]	SWISS	427	COG0364	108773793,NP_001035810
2539	116242483	Disease	p.Arg439Pro	VAR_002506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002506	- Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]	SWISS	240	pfam02781	108773793,NP_001035810
2539	116242483	Disease	p.Arg439Pro	VAR_002506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002506	- Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]	SWISS	461	COG0364	108773793,NP_001035810
2548	251757460	Disease	p.Cys103Gly	VAR_018078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018078	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	30	cd00111	NULL
2548	251757460	Disease	p.Cys103Gly	VAR_018078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018078	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	33	smart00018	NULL
2548	251757460	Disease	p.Cys103Gly	VAR_018078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018078	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	34	pfam00088	NULL
2548	251757460	Disease	p.Tyr191Cys	VAR_046467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046467	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	122	COG1501	NULL
2548	251757460	Disease	p.Leu208Pro	VAR_029025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029025	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	150	COG1501	NULL
2548	251757460	Disease	p.Gly219Arg	VAR_018079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018079	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	163	COG1501	NULL
2548	251757460	Disease	p.Arg224Trp	VAR_029026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029026	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	168	COG1501	NULL
2548	251757460	Disease	p.Ala237Val	VAR_029027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029027	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	181	COG1501	NULL
2548	251757460	Disease	p.Glu262Lys	VAR_029028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029028	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	217	COG1501	NULL
2548	251757460	Disease	p.Pro285Arg	VAR_018080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018080	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	260	COG1501	NULL
2548	251757460	Disease	p.Tyr292Cys	VAR_018081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018081	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	309	COG1501	NULL
2548	251757460	Disease	p.Gly293Arg	VAR_018082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018082	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	310	COG1501	NULL
2548	251757460	Disease	p.Leu299Arg	VAR_004288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004288	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	324	COG1501	NULL
2548	251757460	Disease	p.His308Leu	VAR_046468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046468	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	335	COG1501	NULL
2548	251757460	Disease	p.His308Pro	VAR_018083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018083	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	335	COG1501	NULL
2548	251757460	Disease	p.Gly309Arg	VAR_018084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018084	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	336	COG1501	NULL
2548	251757460	Disease	p.Leu312Arg	VAR_018085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018085	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	339	COG1501	NULL
2548	251757460	Disease	p.Met318Thr	VAR_004289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004289	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	345	COG1501	NULL
2548	251757460	Disease	p.Pro324Leu	VAR_029029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029029	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	351	COG1501	NULL
2548	251757460	Disease	p.Trp330Gly	VAR_029030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029030	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	384	COG1501	NULL
2548	251757460	Disease	p.Leu355Pro	VAR_018086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018086	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	507	COG1501	NULL
2548	251757460	Disease	p.Leu355Pro	VAR_018086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018086	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	11	cd06592	NULL
2548	251757460	Disease	p.Leu355Pro	VAR_018086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018086	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	39	pfam01055	NULL
2548	251757460	Disease	p.Pro361Leu	VAR_029031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029031	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	3	cd06602	NULL
2548	251757460	Disease	p.Pro361Leu	VAR_029031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029031	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	3	cd06597	NULL
2548	251757460	Disease	p.Pro361Leu	VAR_029031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029031	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	3	cd06594	NULL
2548	251757460	Disease	p.Pro361Leu	VAR_029031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029031	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	3	cd06591	NULL
2548	251757460	Disease	p.Pro361Leu	VAR_029031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029031	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	3	cd06589	NULL
2548	251757460	Disease	p.Pro361Leu	VAR_029031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029031	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	3	cd06604	NULL
2548	251757460	Disease	p.Pro361Leu	VAR_029031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029031	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	3	cd06603	NULL
2548	251757460	Disease	p.Pro361Leu	VAR_029031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029031	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	3	cd06600	NULL
2548	251757460	Disease	p.Pro361Leu	VAR_029031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029031	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	3	cd06601	NULL
2548	251757460	Disease	p.Pro361Leu	VAR_029031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029031	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	3	cd06598	NULL
2548	251757460	Disease	p.Pro361Leu	VAR_029031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029031	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	3	cd06599	NULL
2548	251757460	Disease	p.Pro361Leu	VAR_029031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029031	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	3	cd06593	NULL
2548	251757460	Disease	p.Pro361Leu	VAR_029031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029031	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	513	COG1501	NULL
2548	251757460	Disease	p.Pro361Leu	VAR_029031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029031	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	20	cd06592	NULL
2548	251757460	Disease	p.Pro361Leu	VAR_029031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029031	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	55	pfam01055	NULL
2548	251757460	Disease	p.Cys374Arg	VAR_018087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018087	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	16	cd06602	NULL
2548	251757460	Disease	p.Cys374Arg	VAR_018087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018087	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	16	cd06597	NULL
2548	251757460	Disease	p.Cys374Arg	VAR_018087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018087	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	16	cd06594	NULL
2548	251757460	Disease	p.Cys374Arg	VAR_018087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018087	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	16	cd06591	NULL
2548	251757460	Disease	p.Cys374Arg	VAR_018087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018087	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	22	cd06589	NULL
2548	251757460	Disease	p.Cys374Arg	VAR_018087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018087	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	16	cd06604	NULL
2548	251757460	Disease	p.Cys374Arg	VAR_018087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018087	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	16	cd06603	NULL
2548	251757460	Disease	p.Cys374Arg	VAR_018087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018087	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	16	cd06600	NULL
2548	251757460	Disease	p.Cys374Arg	VAR_018087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018087	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	16	cd06601	NULL
2548	251757460	Disease	p.Cys374Arg	VAR_018087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018087	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	16	cd06598	NULL
2548	251757460	Disease	p.Cys374Arg	VAR_018087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018087	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	16	cd06599	NULL
2548	251757460	Disease	p.Cys374Arg	VAR_018087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018087	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	16	cd06593	NULL
2548	251757460	Disease	p.Cys374Arg	VAR_018087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018087	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	530	COG1501	NULL
2548	251757460	Disease	p.Cys374Arg	VAR_018087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018087	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	23	cd06592	NULL
2548	251757460	Disease	p.Cys374Arg	VAR_018087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018087	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	72	pfam01055	NULL
2548	251757460	Disease	p.Arg375Leu	VAR_046469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046469	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	17	cd06602	NULL
2548	251757460	Disease	p.Arg375Leu	VAR_046469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046469	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	17	cd06597	NULL
2548	251757460	Disease	p.Arg375Leu	VAR_046469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046469	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	17	cd06594	NULL
2548	251757460	Disease	p.Arg375Leu	VAR_046469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046469	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	17	cd06591	NULL
2548	251757460	Disease	p.Arg375Leu	VAR_046469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046469	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	23	cd06589	NULL
2548	251757460	Disease	p.Arg375Leu	VAR_046469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046469	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	17	cd06604	NULL
2548	251757460	Disease	p.Arg375Leu	VAR_046469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046469	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	17	cd06603	NULL
2548	251757460	Disease	p.Arg375Leu	VAR_046469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046469	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	17	cd06600	NULL
2548	251757460	Disease	p.Arg375Leu	VAR_046469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046469	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	17	cd06601	NULL
2548	251757460	Disease	p.Arg375Leu	VAR_046469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046469	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	17	cd06598	NULL
2548	251757460	Disease	p.Arg375Leu	VAR_046469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046469	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	17	cd06599	NULL
2548	251757460	Disease	p.Arg375Leu	VAR_046469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046469	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	17	cd06593	NULL
2548	251757460	Disease	p.Arg375Leu	VAR_046469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046469	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	531	COG1501	NULL
2548	251757460	Disease	p.Arg375Leu	VAR_046469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046469	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	24	cd06592	NULL
2548	251757460	Disease	p.Arg375Leu	VAR_046469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046469	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	73	pfam01055	NULL
2548	251757460	Disease	p.Gly377Arg	VAR_029032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029032	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	19	cd06602	NULL
2548	251757460	Disease	p.Gly377Arg	VAR_029032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029032	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	19	cd06597	NULL
2548	251757460	Disease	p.Gly377Arg	VAR_029032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029032	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	19	cd06594	NULL
2548	251757460	Disease	p.Gly377Arg	VAR_029032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029032	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	19	cd06591	NULL
2548	251757460	Disease	p.Gly377Arg	VAR_029032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029032	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	25	cd06589	NULL
2548	251757460	Disease	p.Gly377Arg	VAR_029032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029032	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	19	cd06604	NULL
2548	251757460	Disease	p.Gly377Arg	VAR_029032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029032	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	19	cd06603	NULL
2548	251757460	Disease	p.Gly377Arg	VAR_029032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029032	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	19	cd06600	NULL
2548	251757460	Disease	p.Gly377Arg	VAR_029032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029032	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	19	cd06601	NULL
2548	251757460	Disease	p.Gly377Arg	VAR_029032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029032	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	19	cd06598	NULL
2548	251757460	Disease	p.Gly377Arg	VAR_029032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029032	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	19	cd06599	NULL
2548	251757460	Disease	p.Gly377Arg	VAR_029032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029032	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	19	cd06593	NULL
2548	251757460	Disease	p.Gly377Arg	VAR_029032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029032	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	533	COG1501	NULL
2548	251757460	Disease	p.Gly377Arg	VAR_029032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029032	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	26	cd06592	NULL
2548	251757460	Disease	p.Gly377Arg	VAR_029032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029032	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	75	pfam01055	NULL
2548	251757460	Disease	p.Gln401Arg	VAR_046470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046470	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	67	cd06602	NULL
2548	251757460	Disease	p.Gln401Arg	VAR_046470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046470	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	47	cd06597	NULL
2548	251757460	Disease	p.Gln401Arg	VAR_046470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046470	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	43	cd06594	NULL
2548	251757460	Disease	p.Gln401Arg	VAR_046470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046470	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	43	cd06591	NULL
2548	251757460	Disease	p.Gln401Arg	VAR_046470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046470	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	88	cd06589	NULL
2548	251757460	Disease	p.Gln401Arg	VAR_046470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046470	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	44	cd06604	NULL
2548	251757460	Disease	p.Gln401Arg	VAR_046470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046470	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	43	cd06603	NULL
2548	251757460	Disease	p.Gln401Arg	VAR_046470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046470	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	43	cd06600	NULL
2548	251757460	Disease	p.Gln401Arg	VAR_046470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046470	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	54	cd06601	NULL
2548	251757460	Disease	p.Gln401Arg	VAR_046470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046470	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	48	cd06598	NULL
2548	251757460	Disease	p.Gln401Arg	VAR_046470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046470	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	66	cd06599	NULL
2548	251757460	Disease	p.Gln401Arg	VAR_046470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046470	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	51	cd06593	NULL
2548	251757460	Disease	p.Gln401Arg	VAR_046470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046470	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	561	COG1501	NULL
2548	251757460	Disease	p.Gln401Arg	VAR_046470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046470	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	48	cd06592	NULL
2548	251757460	Disease	p.Gln401Arg	VAR_046470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046470	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	145	pfam01055	NULL
2548	251757460	Disease	p.Trp402Arg	VAR_004290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004290	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	68	cd06602	NULL
2548	251757460	Disease	p.Trp402Arg	VAR_004290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004290	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	48	cd06597	NULL
2548	251757460	Disease	p.Trp402Arg	VAR_004290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004290	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	44	cd06594	NULL
2548	251757460	Disease	p.Trp402Arg	VAR_004290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004290	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	44	cd06591	NULL
2548	251757460	Disease	p.Trp402Arg	VAR_004290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004290	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	89	cd06589	NULL
2548	251757460	Disease	p.Trp402Arg	VAR_004290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004290	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	45	cd06604	NULL
2548	251757460	Disease	p.Trp402Arg	VAR_004290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004290	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	44	cd06603	NULL
2548	251757460	Disease	p.Trp402Arg	VAR_004290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004290	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	44	cd06600	NULL
2548	251757460	Disease	p.Trp402Arg	VAR_004290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004290	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	55	cd06601	NULL
2548	251757460	Disease	p.Trp402Arg	VAR_004290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004290	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	49	cd06598	NULL
2548	251757460	Disease	p.Trp402Arg	VAR_004290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004290	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	67	cd06599	NULL
2548	251757460	Disease	p.Trp402Arg	VAR_004290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004290	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	52	cd06593	NULL
2548	251757460	Disease	p.Trp402Arg	VAR_004290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004290	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	562	COG1501	NULL
2548	251757460	Disease	p.Trp402Arg	VAR_004290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004290	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	49	cd06592	NULL
2548	251757460	Disease	p.Trp402Arg	VAR_004290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004290	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	146	pfam01055	NULL
2548	251757460	Disease	p.Asp404Asn	VAR_029033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029033	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	70	cd06602	NULL
2548	251757460	Disease	p.Asp404Asn	VAR_029033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029033	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	59	cd06597	NULL
2548	251757460	Disease	p.Asp404Asn	VAR_029033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029033	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	46	cd06594	NULL
2548	251757460	Disease	p.Asp404Asn	VAR_029033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029033	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	46	cd06591	NULL
2548	251757460	Disease	p.Asp404Asn	VAR_029033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029033	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	91	cd06589	NULL
2548	251757460	Disease	p.Asp404Asn	VAR_029033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029033	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	47	cd06604	NULL
2548	251757460	Disease	p.Asp404Asn	VAR_029033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029033	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	46	cd06603	NULL
2548	251757460	Disease	p.Asp404Asn	VAR_029033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029033	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	46	cd06600	NULL
2548	251757460	Disease	p.Asp404Asn	VAR_029033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029033	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	57	cd06601	NULL
2548	251757460	Disease	p.Asp404Asn	VAR_029033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029033	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	51	cd06598	NULL
2548	251757460	Disease	p.Asp404Asn	VAR_029033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029033	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	75	cd06599	NULL
2548	251757460	Disease	p.Asp404Asn	VAR_029033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029033	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	54	cd06593	NULL
2548	251757460	Disease	p.Asp404Asn	VAR_029033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029033	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	564	COG1501	NULL
2548	251757460	Disease	p.Asp404Asn	VAR_029033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029033	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	51	cd06592	NULL
2548	251757460	Disease	p.Asp404Asn	VAR_029033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029033	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	148	pfam01055	NULL
2548	251757460	Disease	p.Leu405Pro	VAR_018088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018088	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	71	cd06602	NULL
2548	251757460	Disease	p.Leu405Pro	VAR_018088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018088	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	60	cd06597	NULL
2548	251757460	Disease	p.Leu405Pro	VAR_018088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018088	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	46_G	cd06594	NULL
2548	251757460	Disease	p.Leu405Pro	VAR_018088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018088	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	47	cd06591	NULL
2548	251757460	Disease	p.Leu405Pro	VAR_018088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018088	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	92	cd06589	NULL
2548	251757460	Disease	p.Leu405Pro	VAR_018088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018088	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	48	cd06604	NULL
2548	251757460	Disease	p.Leu405Pro	VAR_018088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018088	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	47	cd06603	NULL
2548	251757460	Disease	p.Leu405Pro	VAR_018088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018088	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	47	cd06600	NULL
2548	251757460	Disease	p.Leu405Pro	VAR_018088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018088	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	58	cd06601	NULL
2548	251757460	Disease	p.Leu405Pro	VAR_018088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018088	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	52	cd06598	NULL
2548	251757460	Disease	p.Leu405Pro	VAR_018088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018088	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	78	cd06599	NULL
2548	251757460	Disease	p.Leu405Pro	VAR_018088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018088	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	55	cd06593	NULL
2548	251757460	Disease	p.Leu405Pro	VAR_018088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018088	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	565	COG1501	NULL
2548	251757460	Disease	p.Leu405Pro	VAR_018088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018088	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	52	cd06592	NULL
2548	251757460	Disease	p.Leu405Pro	VAR_018088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018088	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	149	pfam01055	NULL
2548	251757460	Disease	p.Met408Val	VAR_029034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029034	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	74	cd06602	NULL
2548	251757460	Disease	p.Met408Val	VAR_029034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029034	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	63	cd06597	NULL
2548	251757460	Disease	p.Met408Val	VAR_029034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029034	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	49	cd06594	NULL
2548	251757460	Disease	p.Met408Val	VAR_029034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029034	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	50	cd06591	NULL
2548	251757460	Disease	p.Met408Val	VAR_029034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029034	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	95	cd06589	NULL
2548	251757460	Disease	p.Met408Val	VAR_029034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029034	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	51	cd06604	NULL
2548	251757460	Disease	p.Met408Val	VAR_029034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029034	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	50	cd06603	NULL
2548	251757460	Disease	p.Met408Val	VAR_029034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029034	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	50	cd06600	NULL
2548	251757460	Disease	p.Met408Val	VAR_029034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029034	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	61	cd06601	NULL
2548	251757460	Disease	p.Met408Val	VAR_029034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029034	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	64	cd06598	NULL
2548	251757460	Disease	p.Met408Val	VAR_029034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029034	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	81	cd06599	NULL
2548	251757460	Disease	p.Met408Val	VAR_029034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029034	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	58	cd06593	NULL
2548	251757460	Disease	p.Met408Val	VAR_029034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029034	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	576	COG1501	NULL
2548	251757460	Disease	p.Met408Val	VAR_029034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029034	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	72	cd06592	NULL
2548	251757460	Disease	p.Met408Val	VAR_029034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029034	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	162	pfam01055	NULL
2548	251757460	Disease	p.Arg437Cys	VAR_029035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029035	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	107	cd06602	NULL
2548	251757460	Disease	p.Arg437Cys	VAR_029035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029035	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	100	cd06597	NULL
2548	251757460	Disease	p.Arg437Cys	VAR_029035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029035	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	94	cd06594	NULL
2548	251757460	Disease	p.Arg437Cys	VAR_029035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029035	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	87	cd06591	NULL
2548	251757460	Disease	p.Arg437Cys	VAR_029035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029035	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	145	cd06589	NULL
2548	251757460	Disease	p.Arg437Cys	VAR_029035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029035	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	81	cd06604	NULL
2548	251757460	Disease	p.Arg437Cys	VAR_029035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029035	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	79	cd06603	NULL
2548	251757460	Disease	p.Arg437Cys	VAR_029035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029035	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	79	cd06600	NULL
2548	251757460	Disease	p.Arg437Cys	VAR_029035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029035	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	100	cd06601	NULL
2548	251757460	Disease	p.Arg437Cys	VAR_029035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029035	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	95	cd06598	NULL
2548	251757460	Disease	p.Arg437Cys	VAR_029035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029035	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	111	cd06599	NULL
2548	251757460	Disease	p.Arg437Cys	VAR_029035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029035	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	149	cd06593	NULL
2548	251757460	Disease	p.Arg437Cys	VAR_029035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029035	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	621	COG1501	NULL
2548	251757460	Disease	p.Arg437Cys	VAR_029035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029035	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	106	cd06592	NULL
2548	251757460	Disease	p.Arg437Cys	VAR_029035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029035	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	220	pfam01055	NULL
2548	251757460	Disease	p.Ala445Pro	VAR_029036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029036	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	115	cd06602	NULL
2548	251757460	Disease	p.Ala445Pro	VAR_029036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029036	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	108	cd06597	NULL
2548	251757460	Disease	p.Ala445Pro	VAR_029036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029036	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	102	cd06594	NULL
2548	251757460	Disease	p.Ala445Pro	VAR_029036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029036	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	95	cd06591	NULL
2548	251757460	Disease	p.Ala445Pro	VAR_029036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029036	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	153	cd06589	NULL
2548	251757460	Disease	p.Ala445Pro	VAR_029036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029036	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	89	cd06604	NULL
2548	251757460	Disease	p.Ala445Pro	VAR_029036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029036	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	87	cd06603	NULL
2548	251757460	Disease	p.Ala445Pro	VAR_029036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029036	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	87	cd06600	NULL
2548	251757460	Disease	p.Ala445Pro	VAR_029036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029036	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	108	cd06601	NULL
2548	251757460	Disease	p.Ala445Pro	VAR_029036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029036	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	103	cd06598	NULL
2548	251757460	Disease	p.Ala445Pro	VAR_029036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029036	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	119	cd06599	NULL
2548	251757460	Disease	p.Ala445Pro	VAR_029036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029036	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	157	cd06593	NULL
2548	251757460	Disease	p.Ala445Pro	VAR_029036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029036	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	629	COG1501	NULL
2548	251757460	Disease	p.Ala445Pro	VAR_029036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029036	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	114	cd06592	NULL
2548	251757460	Disease	p.Ala445Pro	VAR_029036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029036	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	228	pfam01055	NULL
2548	251757460	Disease	p.Tyr455Phe	VAR_018089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018089	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	149	cd06602	NULL
2548	251757460	Disease	p.Tyr455Phe	VAR_018089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018089	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	123	cd06597	NULL
2548	251757460	Disease	p.Tyr455Phe	VAR_018089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018089	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	112	cd06594	NULL
2548	251757460	Disease	p.Tyr455Phe	VAR_018089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018089	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	100_G	cd06591	NULL
2548	251757460	Disease	p.Tyr455Phe	VAR_018089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018089	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	160	cd06589	NULL
2548	251757460	Disease	p.Tyr455Phe	VAR_018089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018089	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	98	cd06604	NULL
2548	251757460	Disease	p.Tyr455Phe	VAR_018089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018089	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	101	cd06603	NULL
2548	251757460	Disease	p.Tyr455Phe	VAR_018089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018089	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	94	cd06600	NULL
2548	251757460	Disease	p.Tyr455Phe	VAR_018089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018089	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	118	cd06601	NULL
2548	251757460	Disease	p.Tyr455Phe	VAR_018089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018089	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	110_G	cd06598	NULL
2548	251757460	Disease	p.Tyr455Phe	VAR_018089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018089	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	126_G	cd06599	NULL
2548	251757460	Disease	p.Tyr455Phe	VAR_018089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018089	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	165	cd06593	NULL
2548	251757460	Disease	p.Tyr455Phe	VAR_018089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018089	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	642	COG1501	NULL
2548	251757460	Disease	p.Tyr455Phe	VAR_018089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018089	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	122	cd06592	NULL
2548	251757460	Disease	p.Tyr455Phe	VAR_018089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018089	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	242	pfam01055	NULL
2548	251757460	Disease	p.Pro457Leu	VAR_029040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029040	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	151	cd06602	NULL
2548	251757460	Disease	p.Pro457Leu	VAR_029040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029040	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	125	cd06597	NULL
2548	251757460	Disease	p.Pro457Leu	VAR_029040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029040	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	114	cd06594	NULL
2548	251757460	Disease	p.Pro457Leu	VAR_029040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029040	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	102	cd06591	NULL
2548	251757460	Disease	p.Pro457Leu	VAR_029040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029040	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	162	cd06589	NULL
2548	251757460	Disease	p.Pro457Leu	VAR_029040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029040	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	100	cd06604	NULL
2548	251757460	Disease	p.Pro457Leu	VAR_029040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029040	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	103	cd06603	NULL
2548	251757460	Disease	p.Pro457Leu	VAR_029040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029040	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	96	cd06600	NULL
2548	251757460	Disease	p.Pro457Leu	VAR_029040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029040	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	120	cd06601	NULL
2548	251757460	Disease	p.Pro457Leu	VAR_029040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029040	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	110_G	cd06598	NULL
2548	251757460	Disease	p.Pro457Leu	VAR_029040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029040	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	126_G	cd06599	NULL
2548	251757460	Disease	p.Pro457Leu	VAR_029040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029040	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	167	cd06593	NULL
2548	251757460	Disease	p.Pro457Leu	VAR_029040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029040	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	644	COG1501	NULL
2548	251757460	Disease	p.Pro457Leu	VAR_029040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029040	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	124	cd06592	NULL
2548	251757460	Disease	p.Pro457Leu	VAR_029040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029040	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	244	pfam01055	NULL
2548	251757460	Disease	p.Gly478Arg	VAR_004291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004291	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	262	cd06602	NULL
2548	251757460	Disease	p.Gly478Arg	VAR_004291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004291	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	152	cd06597	NULL
2548	251757460	Disease	p.Gly478Arg	VAR_004291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004291	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	140	cd06594	NULL
2548	251757460	Disease	p.Gly478Arg	VAR_004291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004291	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	129	cd06591	NULL
2548	251757460	Disease	p.Gly478Arg	VAR_004291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004291	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	204	cd06589	NULL
2548	251757460	Disease	p.Gly478Arg	VAR_004291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004291	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	122	cd06604	NULL
2548	251757460	Disease	p.Gly478Arg	VAR_004291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004291	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	190	cd06603	NULL
2548	251757460	Disease	p.Gly478Arg	VAR_004291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004291	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	122	cd06600	NULL
2548	251757460	Disease	p.Gly478Arg	VAR_004291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004291	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	190	cd06601	NULL
2548	251757460	Disease	p.Gly478Arg	VAR_004291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004291	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	141	cd06598	NULL
2548	251757460	Disease	p.Gly478Arg	VAR_004291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004291	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	187	cd06599	NULL
2548	251757460	Disease	p.Gly478Arg	VAR_004291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004291	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	193	cd06593	NULL
2548	251757460	Disease	p.Gly478Arg	VAR_004291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004291	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	667	COG1501	NULL
2548	251757460	Disease	p.Gly478Arg	VAR_004291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004291	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	188	cd06592	NULL
2548	251757460	Disease	p.Gly478Arg	VAR_004291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004291	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	342	pfam01055	NULL
2548	251757460	Disease	p.Trp481Arg	VAR_004292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004292	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	265	cd06602	NULL
2548	251757460	Disease	p.Trp481Arg	VAR_004292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004292	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	157	cd06597	NULL
2548	251757460	Disease	p.Trp481Arg	VAR_004292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004292	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	143	cd06594	NULL
2548	251757460	Disease	p.Trp481Arg	VAR_004292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004292	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	132	cd06591	NULL
2548	251757460	Disease	p.Trp481Arg	VAR_004292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004292	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	207	cd06589	NULL
2548	251757460	Disease	p.Trp481Arg	VAR_004292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004292	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	125	cd06604	NULL
2548	251757460	Disease	p.Trp481Arg	VAR_004292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004292	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	193	cd06603	NULL
2548	251757460	Disease	p.Trp481Arg	VAR_004292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004292	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	125	cd06600	NULL
2548	251757460	Disease	p.Trp481Arg	VAR_004292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004292	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	193	cd06601	NULL
2548	251757460	Disease	p.Trp481Arg	VAR_004292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004292	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	144	cd06598	NULL
2548	251757460	Disease	p.Trp481Arg	VAR_004292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004292	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	190	cd06599	NULL
2548	251757460	Disease	p.Trp481Arg	VAR_004292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004292	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	196	cd06593	NULL
2548	251757460	Disease	p.Trp481Arg	VAR_004292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004292	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	670	COG1501	NULL
2548	251757460	Disease	p.Trp481Arg	VAR_004292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004292	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	191	cd06592	NULL
2548	251757460	Disease	p.Trp481Arg	VAR_004292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004292	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	346	pfam01055	NULL
2548	251757460	Disease	p.Asp489Asn	VAR_029037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029037	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	294	cd06602	NULL
2548	251757460	Disease	p.Asp489Asn	VAR_029037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029037	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	165	cd06597	NULL
2548	251757460	Disease	p.Asp489Asn	VAR_029037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029037	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	163	cd06594	NULL
2548	251757460	Disease	p.Asp489Asn	VAR_029037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029037	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	140	cd06591	NULL
2548	251757460	Disease	p.Asp489Asn	VAR_029037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029037	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	215	cd06589	NULL
2548	251757460	Disease	p.Asp489Asn	VAR_029037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029037	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	133	cd06604	NULL
2548	251757460	Disease	p.Asp489Asn	VAR_029037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029037	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	201	cd06603	NULL
2548	251757460	Disease	p.Asp489Asn	VAR_029037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029037	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	133	cd06600	NULL
2548	251757460	Disease	p.Asp489Asn	VAR_029037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029037	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	206	cd06601	NULL
2548	251757460	Disease	p.Asp489Asn	VAR_029037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029037	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	152	cd06598	NULL
2548	251757460	Disease	p.Asp489Asn	VAR_029037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029037	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	198	cd06599	NULL
2548	251757460	Disease	p.Asp489Asn	VAR_029037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029037	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	215	cd06593	NULL
2548	251757460	Disease	p.Asp489Asn	VAR_029037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029037	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	678	COG1501	NULL
2548	251757460	Disease	p.Asp489Asn	VAR_029037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029037	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	202	cd06592	NULL
2548	251757460	Disease	p.Asp489Asn	VAR_029037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029037	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	375	pfam01055	NULL
2548	251757460	Disease	p.Met519Thr	VAR_004293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004293	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	343	cd06602	NULL
2548	251757460	Disease	p.Met519Thr	VAR_004293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004293	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	195	cd06597	NULL
2548	251757460	Disease	p.Met519Thr	VAR_004293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004293	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	185	cd06594	NULL
2548	251757460	Disease	p.Met519Thr	VAR_004293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004293	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	171	cd06591	NULL
2548	251757460	Disease	p.Met519Thr	VAR_004293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004293	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	247	cd06589	NULL
2548	251757460	Disease	p.Met519Thr	VAR_004293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004293	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	163	cd06604	NULL
2548	251757460	Disease	p.Met519Thr	VAR_004293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004293	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	239	cd06603	NULL
2548	251757460	Disease	p.Met519Thr	VAR_004293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004293	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	165	cd06600	NULL
2548	251757460	Disease	p.Met519Thr	VAR_004293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004293	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	261	cd06601	NULL
2548	251757460	Disease	p.Met519Thr	VAR_004293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004293	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	183	cd06598	NULL
2548	251757460	Disease	p.Met519Thr	VAR_004293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004293	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	228	cd06599	NULL
2548	251757460	Disease	p.Met519Thr	VAR_004293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004293	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	259	cd06593	NULL
2548	251757460	Disease	p.Met519Thr	VAR_004293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004293	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	27	cd06596	NULL
2548	251757460	Disease	p.Met519Thr	VAR_004293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004293	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	48	cd06595	NULL
2548	251757460	Disease	p.Met519Thr	VAR_004293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004293	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	714	COG1501	NULL
2548	251757460	Disease	p.Met519Thr	VAR_004293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004293	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	232	cd06592	NULL
2548	251757460	Disease	p.Met519Thr	VAR_004293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004293	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	433	pfam01055	NULL
2548	251757460	Disease	p.Met519Val	VAR_004294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004294	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	343	cd06602	NULL
2548	251757460	Disease	p.Met519Val	VAR_004294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004294	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	195	cd06597	NULL
2548	251757460	Disease	p.Met519Val	VAR_004294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004294	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	185	cd06594	NULL
2548	251757460	Disease	p.Met519Val	VAR_004294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004294	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	171	cd06591	NULL
2548	251757460	Disease	p.Met519Val	VAR_004294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004294	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	247	cd06589	NULL
2548	251757460	Disease	p.Met519Val	VAR_004294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004294	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	163	cd06604	NULL
2548	251757460	Disease	p.Met519Val	VAR_004294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004294	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	239	cd06603	NULL
2548	251757460	Disease	p.Met519Val	VAR_004294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004294	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	165	cd06600	NULL
2548	251757460	Disease	p.Met519Val	VAR_004294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004294	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	261	cd06601	NULL
2548	251757460	Disease	p.Met519Val	VAR_004294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004294	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	183	cd06598	NULL
2548	251757460	Disease	p.Met519Val	VAR_004294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004294	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	228	cd06599	NULL
2548	251757460	Disease	p.Met519Val	VAR_004294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004294	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	259	cd06593	NULL
2548	251757460	Disease	p.Met519Val	VAR_004294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004294	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	27	cd06596	NULL
2548	251757460	Disease	p.Met519Val	VAR_004294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004294	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	48	cd06595	NULL
2548	251757460	Disease	p.Met519Val	VAR_004294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004294	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	714	COG1501	NULL
2548	251757460	Disease	p.Met519Val	VAR_004294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004294	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	232	cd06592	NULL
2548	251757460	Disease	p.Met519Val	VAR_004294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004294	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	433	pfam01055	NULL
2548	251757460	Disease	p.Glu521Lys	VAR_004295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004295	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	345	cd06602	NULL
2548	251757460	Disease	p.Glu521Lys	VAR_004295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004295	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	197	cd06597	NULL
2548	251757460	Disease	p.Glu521Lys	VAR_004295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004295	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	186_G	cd06594	NULL
2548	251757460	Disease	p.Glu521Lys	VAR_004295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004295	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	173	cd06591	NULL
2548	251757460	Disease	p.Glu521Lys	VAR_004295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004295	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	249	cd06589	NULL
2548	251757460	Disease	p.Glu521Lys	VAR_004295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004295	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	165	cd06604	NULL
2548	251757460	Disease	p.Glu521Lys	VAR_004295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004295	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	241	cd06603	NULL
2548	251757460	Disease	p.Glu521Lys	VAR_004295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004295	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	167	cd06600	NULL
2548	251757460	Disease	p.Glu521Lys	VAR_004295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004295	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	263	cd06601	NULL
2548	251757460	Disease	p.Glu521Lys	VAR_004295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004295	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	185	cd06598	NULL
2548	251757460	Disease	p.Glu521Lys	VAR_004295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004295	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	230	cd06599	NULL
2548	251757460	Disease	p.Glu521Lys	VAR_004295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004295	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	261	cd06593	NULL
2548	251757460	Disease	p.Glu521Lys	VAR_004295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004295	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	29	cd06596	NULL
2548	251757460	Disease	p.Glu521Lys	VAR_004295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004295	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	84	cd06595	NULL
2548	251757460	Disease	p.Glu521Lys	VAR_004295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004295	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	716	COG1501	NULL
2548	251757460	Disease	p.Glu521Lys	VAR_004295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004295	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	234	cd06592	NULL
2548	251757460	Disease	p.Glu521Lys	VAR_004295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004295	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	435	pfam01055	NULL
2548	251757460	Disease	p.Pro522Ala	VAR_046471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046471	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	346	cd06602	NULL
2548	251757460	Disease	p.Pro522Ala	VAR_046471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046471	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	197_G	cd06597	NULL
2548	251757460	Disease	p.Pro522Ala	VAR_046471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046471	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	186_G	cd06594	NULL
2548	251757460	Disease	p.Pro522Ala	VAR_046471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046471	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	174	cd06591	NULL
2548	251757460	Disease	p.Pro522Ala	VAR_046471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046471	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	250	cd06589	NULL
2548	251757460	Disease	p.Pro522Ala	VAR_046471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046471	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	166	cd06604	NULL
2548	251757460	Disease	p.Pro522Ala	VAR_046471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046471	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	242	cd06603	NULL
2548	251757460	Disease	p.Pro522Ala	VAR_046471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046471	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	168	cd06600	NULL
2548	251757460	Disease	p.Pro522Ala	VAR_046471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046471	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	264	cd06601	NULL
2548	251757460	Disease	p.Pro522Ala	VAR_046471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046471	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	186	cd06598	NULL
2548	251757460	Disease	p.Pro522Ala	VAR_046471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046471	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	231	cd06599	NULL
2548	251757460	Disease	p.Pro522Ala	VAR_046471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046471	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	262	cd06593	NULL
2548	251757460	Disease	p.Pro522Ala	VAR_046471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046471	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	30	cd06596	NULL
2548	251757460	Disease	p.Pro522Ala	VAR_046471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046471	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	85	cd06595	NULL
2548	251757460	Disease	p.Pro522Ala	VAR_046471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046471	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	717	COG1501	NULL
2548	251757460	Disease	p.Pro522Ala	VAR_046471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046471	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	235	cd06592	NULL
2548	251757460	Disease	p.Pro522Ala	VAR_046471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046471	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	436	pfam01055	NULL
2548	251757460	Disease	p.Ser529Val	VAR_004296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004296	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	353	cd06602	NULL
2548	251757460	Disease	p.Ser529Val	VAR_004296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004296	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	202	cd06597	NULL
2548	251757460	Disease	p.Ser529Val	VAR_004296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004296	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	195	cd06594	NULL
2548	251757460	Disease	p.Ser529Val	VAR_004296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004296	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	176	cd06591	NULL
2548	251757460	Disease	p.Ser529Val	VAR_004296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004296	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	257	cd06589	NULL
2548	251757460	Disease	p.Ser529Val	VAR_004296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004296	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	173	cd06604	NULL
2548	251757460	Disease	p.Ser529Val	VAR_004296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004296	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	248	cd06603	NULL
2548	251757460	Disease	p.Ser529Val	VAR_004296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004296	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	175	cd06600	NULL
2548	251757460	Disease	p.Ser529Val	VAR_004296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004296	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	268	cd06601	NULL
2548	251757460	Disease	p.Ser529Val	VAR_004296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004296	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	186_G	cd06598	NULL
2548	251757460	Disease	p.Ser529Val	VAR_004296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004296	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	239_G	cd06599	NULL
2548	251757460	Disease	p.Ser529Val	VAR_004296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004296	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	265_G	cd06593	NULL
2548	251757460	Disease	p.Ser529Val	VAR_004296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004296	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	37	cd06596	NULL
2548	251757460	Disease	p.Ser529Val	VAR_004296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004296	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	92	cd06595	NULL
2548	251757460	Disease	p.Ser529Val	VAR_004296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004296	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	723	COG1501	NULL
2548	251757460	Disease	p.Ser529Val	VAR_004296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004296	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	241	cd06592	NULL
2548	251757460	Disease	p.Ser529Val	VAR_004296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004296	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	443	pfam01055	NULL
2548	251757460	Disease	p.Pro545Leu	VAR_004297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004297	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	369	cd06602	NULL
2548	251757460	Disease	p.Pro545Leu	VAR_004297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004297	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	208	cd06597	NULL
2548	251757460	Disease	p.Pro545Leu	VAR_004297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004297	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	199	cd06594	NULL
2548	251757460	Disease	p.Pro545Leu	VAR_004297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004297	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	195	cd06591	NULL
2548	251757460	Disease	p.Pro545Leu	VAR_004297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004297	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	273	cd06589	NULL
2548	251757460	Disease	p.Pro545Leu	VAR_004297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004297	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	208_G	cd06604	NULL
2548	251757460	Disease	p.Pro545Leu	VAR_004297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004297	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	250_G	cd06603	NULL
2548	251757460	Disease	p.Pro545Leu	VAR_004297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004297	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	191	cd06600	NULL
2548	251757460	Disease	p.Pro545Leu	VAR_004297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004297	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	286	cd06601	NULL
2548	251757460	Disease	p.Pro545Leu	VAR_004297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004297	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	191	cd06598	NULL
2548	251757460	Disease	p.Pro545Leu	VAR_004297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004297	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	250_G	cd06599	NULL
2548	251757460	Disease	p.Pro545Leu	VAR_004297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004297	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	265_G	cd06593	NULL
2548	251757460	Disease	p.Pro545Leu	VAR_004297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004297	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	62	cd06596	NULL
2548	251757460	Disease	p.Pro545Leu	VAR_004297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004297	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	119	cd06595	NULL
2548	251757460	Disease	p.Pro545Leu	VAR_004297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004297	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	804	COG1501	NULL
2548	251757460	Disease	p.Pro545Leu	VAR_004297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004297	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	257	cd06592	NULL
2548	251757460	Disease	p.Pro545Leu	VAR_004297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004297	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	459	pfam01055	NULL
2548	251757460	Disease	p.Gly549Arg	VAR_018091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018091	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	540	cd06602	NULL
2548	251757460	Disease	p.Gly549Arg	VAR_018091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018091	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	212	cd06597	NULL
2548	251757460	Disease	p.Gly549Arg	VAR_018091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018091	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	203	cd06594	NULL
2548	251757460	Disease	p.Gly549Arg	VAR_018091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018091	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	199	cd06591	NULL
2548	251757460	Disease	p.Gly549Arg	VAR_018091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018091	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	277	cd06589	NULL
2548	251757460	Disease	p.Gly549Arg	VAR_018091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018091	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	209	cd06604	NULL
2548	251757460	Disease	p.Gly549Arg	VAR_018091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018091	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	250_G	cd06603	NULL
2548	251757460	Disease	p.Gly549Arg	VAR_018091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018091	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	195	cd06600	NULL
2548	251757460	Disease	p.Gly549Arg	VAR_018091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018091	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	294	cd06601	NULL
2548	251757460	Disease	p.Gly549Arg	VAR_018091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018091	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	195	cd06598	NULL
2548	251757460	Disease	p.Gly549Arg	VAR_018091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018091	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	253	cd06599	NULL
2548	251757460	Disease	p.Gly549Arg	VAR_018091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018091	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	265_G	cd06593	NULL
2548	251757460	Disease	p.Gly549Arg	VAR_018091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018091	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	66	cd06596	NULL
2548	251757460	Disease	p.Gly549Arg	VAR_018091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018091	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	130	cd06595	NULL
2548	251757460	Disease	p.Gly549Arg	VAR_018091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018091	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	808	COG1501	NULL
2548	251757460	Disease	p.Gly549Arg	VAR_018091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018091	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	261	cd06592	NULL
2548	251757460	Disease	p.Gly549Arg	VAR_018091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018091	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	569	pfam01055	NULL
2548	251757460	Disease	p.Leu552Pro	VAR_018092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018092	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	543	cd06602	NULL
2548	251757460	Disease	p.Leu552Pro	VAR_018092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018092	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	213_G	cd06597	NULL
2548	251757460	Disease	p.Leu552Pro	VAR_018092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018092	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	206	cd06594	NULL
2548	251757460	Disease	p.Leu552Pro	VAR_018092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018092	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	202	cd06591	NULL
2548	251757460	Disease	p.Leu552Pro	VAR_018092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018092	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	288	cd06589	NULL
2548	251757460	Disease	p.Leu552Pro	VAR_018092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018092	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	212	cd06604	NULL
2548	251757460	Disease	p.Leu552Pro	VAR_018092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018092	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	253	cd06603	NULL
2548	251757460	Disease	p.Leu552Pro	VAR_018092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018092	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	198	cd06600	NULL
2548	251757460	Disease	p.Leu552Pro	VAR_018092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018092	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	297	cd06601	NULL
2548	251757460	Disease	p.Leu552Pro	VAR_018092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018092	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	198	cd06598	NULL
2548	251757460	Disease	p.Leu552Pro	VAR_018092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018092	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	256	cd06599	NULL
2548	251757460	Disease	p.Leu552Pro	VAR_018092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018092	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	265_G	cd06593	NULL
2548	251757460	Disease	p.Leu552Pro	VAR_018092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018092	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	69	cd06596	NULL
2548	251757460	Disease	p.Leu552Pro	VAR_018092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018092	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	133	cd06595	NULL
2548	251757460	Disease	p.Leu552Pro	VAR_018092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018092	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	811	COG1501	NULL
2548	251757460	Disease	p.Leu552Pro	VAR_018092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018092	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	264	cd06592	NULL
2548	251757460	Disease	p.Leu552Pro	VAR_018092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018092	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	572	pfam01055	NULL
2548	251757460	Disease	p.Ser566Pro	VAR_004298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004298	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	557	cd06602	NULL
2548	251757460	Disease	p.Ser566Pro	VAR_004298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004298	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	213_G	cd06597	NULL
2548	251757460	Disease	p.Ser566Pro	VAR_004298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004298	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	221	cd06594	NULL
2548	251757460	Disease	p.Ser566Pro	VAR_004298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004298	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	211_G	cd06591	NULL
2548	251757460	Disease	p.Ser566Pro	VAR_004298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004298	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	302	cd06589	NULL
2548	251757460	Disease	p.Ser566Pro	VAR_004298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004298	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	234	cd06604	NULL
2548	251757460	Disease	p.Ser566Pro	VAR_004298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004298	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	270	cd06603	NULL
2548	251757460	Disease	p.Ser566Pro	VAR_004298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004298	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	212	cd06600	NULL
2548	251757460	Disease	p.Ser566Pro	VAR_004298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004298	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	312	cd06601	NULL
2548	251757460	Disease	p.Ser566Pro	VAR_004298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004298	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	207	cd06598	NULL
2548	251757460	Disease	p.Ser566Pro	VAR_004298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004298	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	270	cd06599	NULL
2548	251757460	Disease	p.Ser566Pro	VAR_004298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004298	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	265_G	cd06593	NULL
2548	251757460	Disease	p.Ser566Pro	VAR_004298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004298	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	114	cd06596	NULL
2548	251757460	Disease	p.Ser566Pro	VAR_004298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004298	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	147	cd06595	NULL
2548	251757460	Disease	p.Ser566Pro	VAR_004298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004298	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	825	COG1501	NULL
2548	251757460	Disease	p.Ser566Pro	VAR_004298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004298	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	271_G	cd06592	NULL
2548	251757460	Disease	p.Ser566Pro	VAR_004298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004298	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	586	pfam01055	NULL
2548	251757460	Disease	p.Tyr575Ser	VAR_018093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018093	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	566	cd06602	NULL
2548	251757460	Disease	p.Tyr575Ser	VAR_018093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018093	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	219	cd06597	NULL
2548	251757460	Disease	p.Tyr575Ser	VAR_018093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018093	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	230	cd06594	NULL
2548	251757460	Disease	p.Tyr575Ser	VAR_018093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018093	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	214	cd06591	NULL
2548	251757460	Disease	p.Tyr575Ser	VAR_018093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018093	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	311	cd06589	NULL
2548	251757460	Disease	p.Tyr575Ser	VAR_018093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018093	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	243	cd06604	NULL
2548	251757460	Disease	p.Tyr575Ser	VAR_018093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018093	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	279	cd06603	NULL
2548	251757460	Disease	p.Tyr575Ser	VAR_018093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018093	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	221	cd06600	NULL
2548	251757460	Disease	p.Tyr575Ser	VAR_018093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018093	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	321	cd06601	NULL
2548	251757460	Disease	p.Tyr575Ser	VAR_018093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018093	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	216	cd06598	NULL
2548	251757460	Disease	p.Tyr575Ser	VAR_018093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018093	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	279	cd06599	NULL
2548	251757460	Disease	p.Tyr575Ser	VAR_018093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018093	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	269	cd06593	NULL
2548	251757460	Disease	p.Tyr575Ser	VAR_018093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018093	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	175	cd06596	NULL
2548	251757460	Disease	p.Tyr575Ser	VAR_018093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018093	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	156	cd06595	NULL
2548	251757460	Disease	p.Tyr575Ser	VAR_018093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018093	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	837	COG1501	NULL
2548	251757460	Disease	p.Tyr575Ser	VAR_018093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018093	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	273	cd06592	NULL
2548	251757460	Disease	p.Tyr575Ser	VAR_018093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018093	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	603	pfam01055	NULL
2548	251757460	Disease	p.Glu579Lys	VAR_018094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018094	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	570	cd06602	NULL
2548	251757460	Disease	p.Glu579Lys	VAR_018094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018094	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	222	cd06597	NULL
2548	251757460	Disease	p.Glu579Lys	VAR_018094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018094	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	234	cd06594	NULL
2548	251757460	Disease	p.Glu579Lys	VAR_018094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018094	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	218	cd06591	NULL
2548	251757460	Disease	p.Glu579Lys	VAR_018094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018094	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	315	cd06589	NULL
2548	251757460	Disease	p.Glu579Lys	VAR_018094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018094	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	247	cd06604	NULL
2548	251757460	Disease	p.Glu579Lys	VAR_018094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018094	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	283	cd06603	NULL
2548	251757460	Disease	p.Glu579Lys	VAR_018094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018094	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	225	cd06600	NULL
2548	251757460	Disease	p.Glu579Lys	VAR_018094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018094	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	325	cd06601	NULL
2548	251757460	Disease	p.Glu579Lys	VAR_018094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018094	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	222	cd06598	NULL
2548	251757460	Disease	p.Glu579Lys	VAR_018094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018094	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	283	cd06599	NULL
2548	251757460	Disease	p.Glu579Lys	VAR_018094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018094	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	273	cd06593	NULL
2548	251757460	Disease	p.Glu579Lys	VAR_018094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018094	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	179	cd06596	NULL
2548	251757460	Disease	p.Glu579Lys	VAR_018094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018094	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	175	cd06595	NULL
2548	251757460	Disease	p.Glu579Lys	VAR_018094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018094	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	841	COG1501	NULL
2548	251757460	Disease	p.Glu579Lys	VAR_018094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018094	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	278	cd06592	NULL
2548	251757460	Disease	p.Glu579Lys	VAR_018094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018094	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	607	pfam01055	NULL
2548	251757460	Disease	p.Arg585Met	VAR_046472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046472	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	576	cd06602	NULL
2548	251757460	Disease	p.Arg585Met	VAR_046472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046472	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	228	cd06597	NULL
2548	251757460	Disease	p.Arg585Met	VAR_046472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046472	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	240	cd06594	NULL
2548	251757460	Disease	p.Arg585Met	VAR_046472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046472	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	224	cd06591	NULL
2548	251757460	Disease	p.Arg585Met	VAR_046472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046472	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	321	cd06589	NULL
2548	251757460	Disease	p.Arg585Met	VAR_046472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046472	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	253	cd06604	NULL
2548	251757460	Disease	p.Arg585Met	VAR_046472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046472	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	289	cd06603	NULL
2548	251757460	Disease	p.Arg585Met	VAR_046472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046472	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	231	cd06600	NULL
2548	251757460	Disease	p.Arg585Met	VAR_046472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046472	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	327_G	cd06601	NULL
2548	251757460	Disease	p.Arg585Met	VAR_046472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046472	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	228	cd06598	NULL
2548	251757460	Disease	p.Arg585Met	VAR_046472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046472	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	289	cd06599	NULL
2548	251757460	Disease	p.Arg585Met	VAR_046472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046472	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	279	cd06593	NULL
2548	251757460	Disease	p.Arg585Met	VAR_046472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046472	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	185	cd06596	NULL
2548	251757460	Disease	p.Arg585Met	VAR_046472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046472	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	181	cd06595	NULL
2548	251757460	Disease	p.Arg585Met	VAR_046472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046472	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	847	COG1501	NULL
2548	251757460	Disease	p.Arg585Met	VAR_046472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046472	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	284	cd06592	NULL
2548	251757460	Disease	p.Arg585Met	VAR_046472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046472	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	613	pfam01055	NULL
2548	251757460	Disease	p.Ser599Tyr	VAR_046473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046473	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	616	cd06602	NULL
2548	251757460	Disease	p.Ser599Tyr	VAR_046473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046473	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	243	cd06597	NULL
2548	251757460	Disease	p.Ser599Tyr	VAR_046473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046473	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	260	cd06594	NULL
2548	251757460	Disease	p.Ser599Tyr	VAR_046473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046473	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	244	cd06591	NULL
2548	251757460	Disease	p.Ser599Tyr	VAR_046473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046473	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	341	cd06589	NULL
2548	251757460	Disease	p.Ser599Tyr	VAR_046473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046473	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	268	cd06604	NULL
2548	251757460	Disease	p.Ser599Tyr	VAR_046473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046473	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	376	cd06603	NULL
2548	251757460	Disease	p.Ser599Tyr	VAR_046473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046473	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	247	cd06600	NULL
2548	251757460	Disease	p.Ser599Tyr	VAR_046473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046473	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	339	cd06601	NULL
2548	251757460	Disease	p.Ser599Tyr	VAR_046473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046473	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	243	cd06598	NULL
2548	251757460	Disease	p.Ser599Tyr	VAR_046473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046473	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	304	cd06599	NULL
2548	251757460	Disease	p.Ser599Tyr	VAR_046473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046473	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	294	cd06593	NULL
2548	251757460	Disease	p.Ser599Tyr	VAR_046473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046473	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	201	cd06596	NULL
2548	251757460	Disease	p.Ser599Tyr	VAR_046473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046473	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	211	cd06595	NULL
2548	251757460	Disease	p.Ser599Tyr	VAR_046473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046473	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	864	COG1501	NULL
2548	251757460	Disease	p.Ser599Tyr	VAR_046473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046473	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	293	cd06592	NULL
2548	251757460	Disease	p.Ser599Tyr	VAR_046473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046473	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	636	pfam01055	NULL
2548	251757460	Disease	p.Arg600Cys	VAR_018095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018095	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	617	cd06602	NULL
2548	251757460	Disease	p.Arg600Cys	VAR_018095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018095	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	244	cd06597	NULL
2548	251757460	Disease	p.Arg600Cys	VAR_018095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018095	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	261	cd06594	NULL
2548	251757460	Disease	p.Arg600Cys	VAR_018095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018095	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	245	cd06591	NULL
2548	251757460	Disease	p.Arg600Cys	VAR_018095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018095	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	342	cd06589	NULL
2548	251757460	Disease	p.Arg600Cys	VAR_018095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018095	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	269	cd06604	NULL
2548	251757460	Disease	p.Arg600Cys	VAR_018095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018095	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	377	cd06603	NULL
2548	251757460	Disease	p.Arg600Cys	VAR_018095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018095	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	248	cd06600	NULL
2548	251757460	Disease	p.Arg600Cys	VAR_018095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018095	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	340	cd06601	NULL
2548	251757460	Disease	p.Arg600Cys	VAR_018095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018095	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	244	cd06598	NULL
2548	251757460	Disease	p.Arg600Cys	VAR_018095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018095	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	305	cd06599	NULL
2548	251757460	Disease	p.Arg600Cys	VAR_018095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018095	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	295	cd06593	NULL
2548	251757460	Disease	p.Arg600Cys	VAR_018095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018095	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	202	cd06596	NULL
2548	251757460	Disease	p.Arg600Cys	VAR_018095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018095	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	212	cd06595	NULL
2548	251757460	Disease	p.Arg600Cys	VAR_018095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018095	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	865	COG1501	NULL
2548	251757460	Disease	p.Arg600Cys	VAR_018095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018095	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	293_G	cd06592	NULL
2548	251757460	Disease	p.Arg600Cys	VAR_018095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018095	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	637	pfam01055	NULL
2548	251757460	Disease	p.Arg600His	VAR_008689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008689	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	617	cd06602	NULL
2548	251757460	Disease	p.Arg600His	VAR_008689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008689	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	244	cd06597	NULL
2548	251757460	Disease	p.Arg600His	VAR_008689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008689	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	261	cd06594	NULL
2548	251757460	Disease	p.Arg600His	VAR_008689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008689	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	245	cd06591	NULL
2548	251757460	Disease	p.Arg600His	VAR_008689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008689	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	342	cd06589	NULL
2548	251757460	Disease	p.Arg600His	VAR_008689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008689	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	269	cd06604	NULL
2548	251757460	Disease	p.Arg600His	VAR_008689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008689	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	377	cd06603	NULL
2548	251757460	Disease	p.Arg600His	VAR_008689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008689	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	248	cd06600	NULL
2548	251757460	Disease	p.Arg600His	VAR_008689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008689	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	340	cd06601	NULL
2548	251757460	Disease	p.Arg600His	VAR_008689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008689	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	244	cd06598	NULL
2548	251757460	Disease	p.Arg600His	VAR_008689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008689	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	305	cd06599	NULL
2548	251757460	Disease	p.Arg600His	VAR_008689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008689	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	295	cd06593	NULL
2548	251757460	Disease	p.Arg600His	VAR_008689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008689	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	202	cd06596	NULL
2548	251757460	Disease	p.Arg600His	VAR_008689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008689	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	212	cd06595	NULL
2548	251757460	Disease	p.Arg600His	VAR_008689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008689	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	865	COG1501	NULL
2548	251757460	Disease	p.Arg600His	VAR_008689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008689	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	293_G	cd06592	NULL
2548	251757460	Disease	p.Arg600His	VAR_008689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008689	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	637	pfam01055	NULL
2548	251757460	Disease	p.Gly607Asp	VAR_018096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018096	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	624	cd06602	NULL
2548	251757460	Disease	p.Gly607Asp	VAR_018096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018096	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	251	cd06597	NULL
2548	251757460	Disease	p.Gly607Asp	VAR_018096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018096	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	268	cd06594	NULL
2548	251757460	Disease	p.Gly607Asp	VAR_018096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018096	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	252	cd06591	NULL
2548	251757460	Disease	p.Gly607Asp	VAR_018096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018096	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	349	cd06589	NULL
2548	251757460	Disease	p.Gly607Asp	VAR_018096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018096	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	276	cd06604	NULL
2548	251757460	Disease	p.Gly607Asp	VAR_018096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018096	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	384	cd06603	NULL
2548	251757460	Disease	p.Gly607Asp	VAR_018096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018096	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	255	cd06600	NULL
2548	251757460	Disease	p.Gly607Asp	VAR_018096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018096	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	347	cd06601	NULL
2548	251757460	Disease	p.Gly607Asp	VAR_018096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018096	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	251	cd06598	NULL
2548	251757460	Disease	p.Gly607Asp	VAR_018096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018096	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	312	cd06599	NULL
2548	251757460	Disease	p.Gly607Asp	VAR_018096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018096	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	302	cd06593	NULL
2548	251757460	Disease	p.Gly607Asp	VAR_018096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018096	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	209	cd06596	NULL
2548	251757460	Disease	p.Gly607Asp	VAR_018096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018096	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	217	cd06595	NULL
2548	251757460	Disease	p.Gly607Asp	VAR_018096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018096	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	872	COG1501	NULL
2548	251757460	Disease	p.Gly607Asp	VAR_018096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018096	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	293_G	cd06592	NULL
2548	251757460	Disease	p.Gly607Asp	VAR_018096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018096	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	644	pfam01055	NULL
2548	251757460	Disease	p.His612Gln	VAR_029038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029038	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	629	cd06602	NULL
2548	251757460	Disease	p.His612Gln	VAR_029038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029038	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	256	cd06597	NULL
2548	251757460	Disease	p.His612Gln	VAR_029038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029038	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	274	cd06594	NULL
2548	251757460	Disease	p.His612Gln	VAR_029038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029038	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	258	cd06591	NULL
2548	251757460	Disease	p.His612Gln	VAR_029038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029038	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	355	cd06589	NULL
2548	251757460	Disease	p.His612Gln	VAR_029038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029038	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	281	cd06604	NULL
2548	251757460	Disease	p.His612Gln	VAR_029038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029038	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	389	cd06603	NULL
2548	251757460	Disease	p.His612Gln	VAR_029038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029038	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	260	cd06600	NULL
2548	251757460	Disease	p.His612Gln	VAR_029038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029038	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	352	cd06601	NULL
2548	251757460	Disease	p.His612Gln	VAR_029038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029038	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	257	cd06598	NULL
2548	251757460	Disease	p.His612Gln	VAR_029038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029038	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	318	cd06599	NULL
2548	251757460	Disease	p.His612Gln	VAR_029038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029038	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	307	cd06593	NULL
2548	251757460	Disease	p.His612Gln	VAR_029038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029038	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	214	cd06596	NULL
2548	251757460	Disease	p.His612Gln	VAR_029038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029038	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	224	cd06595	NULL
2548	251757460	Disease	p.His612Gln	VAR_029038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029038	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	878	COG1501	NULL
2548	251757460	Disease	p.His612Gln	VAR_029038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029038	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	293_G	cd06592	NULL
2548	251757460	Disease	p.His612Gln	VAR_029038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029038	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	650	pfam01055	NULL
2548	251757460	Disease	p.Gly615Arg	VAR_008690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008690	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	632	cd06602	NULL
2548	251757460	Disease	p.Gly615Arg	VAR_008690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008690	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	259	cd06597	NULL
2548	251757460	Disease	p.Gly615Arg	VAR_008690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008690	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	277	cd06594	NULL
2548	251757460	Disease	p.Gly615Arg	VAR_008690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008690	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	261	cd06591	NULL
2548	251757460	Disease	p.Gly615Arg	VAR_008690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008690	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	358	cd06589	NULL
2548	251757460	Disease	p.Gly615Arg	VAR_008690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008690	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	284	cd06604	NULL
2548	251757460	Disease	p.Gly615Arg	VAR_008690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008690	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	392	cd06603	NULL
2548	251757460	Disease	p.Gly615Arg	VAR_008690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008690	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	263	cd06600	NULL
2548	251757460	Disease	p.Gly615Arg	VAR_008690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008690	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	355	cd06601	NULL
2548	251757460	Disease	p.Gly615Arg	VAR_008690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008690	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	260	cd06598	NULL
2548	251757460	Disease	p.Gly615Arg	VAR_008690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008690	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	321	cd06599	NULL
2548	251757460	Disease	p.Gly615Arg	VAR_008690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008690	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	310	cd06593	NULL
2548	251757460	Disease	p.Gly615Arg	VAR_008690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008690	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	217	cd06596	NULL
2548	251757460	Disease	p.Gly615Arg	VAR_008690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008690	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	227	cd06595	NULL
2548	251757460	Disease	p.Gly615Arg	VAR_008690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008690	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	881	COG1501	NULL
2548	251757460	Disease	p.Gly615Arg	VAR_008690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008690	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	295	cd06592	NULL
2548	251757460	Disease	p.Gly615Arg	VAR_008690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008690	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	653	pfam01055	NULL
2548	251757460	Disease	p.Ser619Arg	VAR_046475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046475	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	636	cd06602	NULL
2548	251757460	Disease	p.Ser619Arg	VAR_046475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046475	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	263	cd06597	NULL
2548	251757460	Disease	p.Ser619Arg	VAR_046475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046475	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	281	cd06594	NULL
2548	251757460	Disease	p.Ser619Arg	VAR_046475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046475	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	265	cd06591	NULL
2548	251757460	Disease	p.Ser619Arg	VAR_046475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046475	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	362	cd06589	NULL
2548	251757460	Disease	p.Ser619Arg	VAR_046475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046475	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	288	cd06604	NULL
2548	251757460	Disease	p.Ser619Arg	VAR_046475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046475	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	396	cd06603	NULL
2548	251757460	Disease	p.Ser619Arg	VAR_046475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046475	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	267	cd06600	NULL
2548	251757460	Disease	p.Ser619Arg	VAR_046475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046475	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	359	cd06601	NULL
2548	251757460	Disease	p.Ser619Arg	VAR_046475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046475	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	264	cd06598	NULL
2548	251757460	Disease	p.Ser619Arg	VAR_046475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046475	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	325	cd06599	NULL
2548	251757460	Disease	p.Ser619Arg	VAR_046475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046475	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	314	cd06593	NULL
2548	251757460	Disease	p.Ser619Arg	VAR_046475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046475	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	221	cd06596	NULL
2548	251757460	Disease	p.Ser619Arg	VAR_046475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046475	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	231	cd06595	NULL
2548	251757460	Disease	p.Ser619Arg	VAR_046475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046475	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	885	COG1501	NULL
2548	251757460	Disease	p.Ser619Arg	VAR_046475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046475	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	299	cd06592	NULL
2548	251757460	Disease	p.Ser619Arg	VAR_046475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046475	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	657	pfam01055	NULL
2548	251757460	Disease	p.Gly638Trp	VAR_046476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046476	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	655	cd06602	NULL
2548	251757460	Disease	p.Gly638Trp	VAR_046476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046476	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	282	cd06597	NULL
2548	251757460	Disease	p.Gly638Trp	VAR_046476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046476	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	303	cd06594	NULL
2548	251757460	Disease	p.Gly638Trp	VAR_046476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046476	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	284	cd06591	NULL
2548	251757460	Disease	p.Gly638Trp	VAR_046476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046476	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	385	cd06589	NULL
2548	251757460	Disease	p.Gly638Trp	VAR_046476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046476	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	307	cd06604	NULL
2548	251757460	Disease	p.Gly638Trp	VAR_046476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046476	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	415	cd06603	NULL
2548	251757460	Disease	p.Gly638Trp	VAR_046476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046476	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	286	cd06600	NULL
2548	251757460	Disease	p.Gly638Trp	VAR_046476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046476	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	378	cd06601	NULL
2548	251757460	Disease	p.Gly638Trp	VAR_046476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046476	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	283	cd06598	NULL
2548	251757460	Disease	p.Gly638Trp	VAR_046476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046476	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	344	cd06599	NULL
2548	251757460	Disease	p.Gly638Trp	VAR_046476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046476	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	333	cd06593	NULL
2548	251757460	Disease	p.Gly638Trp	VAR_046476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046476	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	241	cd06596	NULL
2548	251757460	Disease	p.Gly638Trp	VAR_046476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046476	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	250	cd06595	NULL
2548	251757460	Disease	p.Gly638Trp	VAR_046476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046476	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	913	COG1501	NULL
2548	251757460	Disease	p.Gly638Trp	VAR_046476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046476	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	321	cd06592	NULL
2548	251757460	Disease	p.Gly638Trp	VAR_046476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046476	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	697	pfam01055	NULL
2548	251757460	Disease	p.Gly643Arg	VAR_004301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004301	rs28937909 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	672	cd06602	NULL
2548	251757460	Disease	p.Gly643Arg	VAR_004301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004301	rs28937909 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	287	cd06597	NULL
2548	251757460	Disease	p.Gly643Arg	VAR_004301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004301	rs28937909 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	308	cd06594	NULL
2548	251757460	Disease	p.Gly643Arg	VAR_004301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004301	rs28937909 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	289	cd06591	NULL
2548	251757460	Disease	p.Gly643Arg	VAR_004301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004301	rs28937909 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	390	cd06589	NULL
2548	251757460	Disease	p.Gly643Arg	VAR_004301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004301	rs28937909 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	312	cd06604	NULL
2548	251757460	Disease	p.Gly643Arg	VAR_004301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004301	rs28937909 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	420	cd06603	NULL
2548	251757460	Disease	p.Gly643Arg	VAR_004301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004301	rs28937909 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	291	cd06600	NULL
2548	251757460	Disease	p.Gly643Arg	VAR_004301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004301	rs28937909 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	383	cd06601	NULL
2548	251757460	Disease	p.Gly643Arg	VAR_004301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004301	rs28937909 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	288	cd06598	NULL
2548	251757460	Disease	p.Gly643Arg	VAR_004301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004301	rs28937909 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	349	cd06599	NULL
2548	251757460	Disease	p.Gly643Arg	VAR_004301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004301	rs28937909 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	338	cd06593	NULL
2548	251757460	Disease	p.Gly643Arg	VAR_004301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004301	rs28937909 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	246	cd06596	NULL
2548	251757460	Disease	p.Gly643Arg	VAR_004301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004301	rs28937909 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	255	cd06595	NULL
2548	251757460	Disease	p.Gly643Arg	VAR_004301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004301	rs28937909 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	918	COG1501	NULL
2548	251757460	Disease	p.Gly643Arg	VAR_004301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004301	rs28937909 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	332	cd06592	NULL
2548	251757460	Disease	p.Gly643Arg	VAR_004301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004301	rs28937909 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	702	pfam01055	NULL
2548	251757460	Disease	p.Asp645Glu	VAR_004302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004302	rs28940868 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	674	cd06602	NULL
2548	251757460	Disease	p.Asp645Glu	VAR_004302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004302	rs28940868 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	289	cd06597	NULL
2548	251757460	Disease	p.Asp645Glu	VAR_004302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004302	rs28940868 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	310	cd06594	NULL
2548	251757460	Disease	p.Asp645Glu	VAR_004302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004302	rs28940868 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	291	cd06591	NULL
2548	251757460	Disease	p.Asp645Glu	VAR_004302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004302	rs28940868 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	392	cd06589	NULL
2548	251757460	Disease	p.Asp645Glu	VAR_004302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004302	rs28940868 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	314	cd06604	NULL
2548	251757460	Disease	p.Asp645Glu	VAR_004302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004302	rs28940868 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	422	cd06603	NULL
2548	251757460	Disease	p.Asp645Glu	VAR_004302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004302	rs28940868 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	293	cd06600	NULL
2548	251757460	Disease	p.Asp645Glu	VAR_004302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004302	rs28940868 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	385	cd06601	NULL
2548	251757460	Disease	p.Asp645Glu	VAR_004302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004302	rs28940868 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	290	cd06598	NULL
2548	251757460	Disease	p.Asp645Glu	VAR_004302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004302	rs28940868 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	351	cd06599	NULL
2548	251757460	Disease	p.Asp645Glu	VAR_004302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004302	rs28940868 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	340	cd06593	NULL
2548	251757460	Disease	p.Asp645Glu	VAR_004302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004302	rs28940868 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	248	cd06596	NULL
2548	251757460	Disease	p.Asp645Glu	VAR_004302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004302	rs28940868 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	257	cd06595	NULL
2548	251757460	Disease	p.Asp645Glu	VAR_004302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004302	rs28940868 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	920	COG1501	NULL
2548	251757460	Disease	p.Asp645Glu	VAR_004302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004302	rs28940868 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	334	cd06592	NULL
2548	251757460	Disease	p.Asp645Glu	VAR_004302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004302	rs28940868 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	704	pfam01055	NULL
2548	251757460	Disease	p.Asp645His	VAR_004303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004303	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	674	cd06602	NULL
2548	251757460	Disease	p.Asp645His	VAR_004303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004303	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	289	cd06597	NULL
2548	251757460	Disease	p.Asp645His	VAR_004303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004303	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	310	cd06594	NULL
2548	251757460	Disease	p.Asp645His	VAR_004303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004303	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	291	cd06591	NULL
2548	251757460	Disease	p.Asp645His	VAR_004303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004303	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	392	cd06589	NULL
2548	251757460	Disease	p.Asp645His	VAR_004303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004303	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	314	cd06604	NULL
2548	251757460	Disease	p.Asp645His	VAR_004303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004303	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	422	cd06603	NULL
2548	251757460	Disease	p.Asp645His	VAR_004303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004303	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	293	cd06600	NULL
2548	251757460	Disease	p.Asp645His	VAR_004303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004303	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	385	cd06601	NULL
2548	251757460	Disease	p.Asp645His	VAR_004303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004303	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	290	cd06598	NULL
2548	251757460	Disease	p.Asp645His	VAR_004303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004303	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	351	cd06599	NULL
2548	251757460	Disease	p.Asp645His	VAR_004303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004303	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	340	cd06593	NULL
2548	251757460	Disease	p.Asp645His	VAR_004303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004303	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	248	cd06596	NULL
2548	251757460	Disease	p.Asp645His	VAR_004303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004303	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	257	cd06595	NULL
2548	251757460	Disease	p.Asp645His	VAR_004303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004303	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	920	COG1501	NULL
2548	251757460	Disease	p.Asp645His	VAR_004303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004303	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	334	cd06592	NULL
2548	251757460	Disease	p.Asp645His	VAR_004303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004303	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	704	pfam01055	NULL
2548	251757460	Disease	p.Asp645Asn	VAR_004304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004304	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	674	cd06602	NULL
2548	251757460	Disease	p.Asp645Asn	VAR_004304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004304	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	289	cd06597	NULL
2548	251757460	Disease	p.Asp645Asn	VAR_004304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004304	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	310	cd06594	NULL
2548	251757460	Disease	p.Asp645Asn	VAR_004304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004304	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	291	cd06591	NULL
2548	251757460	Disease	p.Asp645Asn	VAR_004304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004304	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	392	cd06589	NULL
2548	251757460	Disease	p.Asp645Asn	VAR_004304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004304	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	314	cd06604	NULL
2548	251757460	Disease	p.Asp645Asn	VAR_004304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004304	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	422	cd06603	NULL
2548	251757460	Disease	p.Asp645Asn	VAR_004304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004304	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	293	cd06600	NULL
2548	251757460	Disease	p.Asp645Asn	VAR_004304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004304	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	385	cd06601	NULL
2548	251757460	Disease	p.Asp645Asn	VAR_004304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004304	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	290	cd06598	NULL
2548	251757460	Disease	p.Asp645Asn	VAR_004304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004304	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	351	cd06599	NULL
2548	251757460	Disease	p.Asp645Asn	VAR_004304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004304	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	340	cd06593	NULL
2548	251757460	Disease	p.Asp645Asn	VAR_004304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004304	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	248	cd06596	NULL
2548	251757460	Disease	p.Asp645Asn	VAR_004304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004304	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	257	cd06595	NULL
2548	251757460	Disease	p.Asp645Asn	VAR_004304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004304	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	920	COG1501	NULL
2548	251757460	Disease	p.Asp645Asn	VAR_004304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004304	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	334	cd06592	NULL
2548	251757460	Disease	p.Asp645Asn	VAR_004304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004304	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	704	pfam01055	NULL
2548	251757460	Disease	p.Cys647Trp	VAR_004305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004305	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	676	cd06602	NULL
2548	251757460	Disease	p.Cys647Trp	VAR_004305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004305	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	291	cd06597	NULL
2548	251757460	Disease	p.Cys647Trp	VAR_004305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004305	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	312	cd06594	NULL
2548	251757460	Disease	p.Cys647Trp	VAR_004305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004305	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	293	cd06591	NULL
2548	251757460	Disease	p.Cys647Trp	VAR_004305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004305	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	394	cd06589	NULL
2548	251757460	Disease	p.Cys647Trp	VAR_004305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004305	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	316	cd06604	NULL
2548	251757460	Disease	p.Cys647Trp	VAR_004305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004305	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	424	cd06603	NULL
2548	251757460	Disease	p.Cys647Trp	VAR_004305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004305	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	295	cd06600	NULL
2548	251757460	Disease	p.Cys647Trp	VAR_004305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004305	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	387	cd06601	NULL
2548	251757460	Disease	p.Cys647Trp	VAR_004305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004305	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	292	cd06598	NULL
2548	251757460	Disease	p.Cys647Trp	VAR_004305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004305	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	353	cd06599	NULL
2548	251757460	Disease	p.Cys647Trp	VAR_004305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004305	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	342	cd06593	NULL
2548	251757460	Disease	p.Cys647Trp	VAR_004305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004305	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	250	cd06596	NULL
2548	251757460	Disease	p.Cys647Trp	VAR_004305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004305	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	259	cd06595	NULL
2548	251757460	Disease	p.Cys647Trp	VAR_004305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004305	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	922	COG1501	NULL
2548	251757460	Disease	p.Cys647Trp	VAR_004305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004305	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	336	cd06592	NULL
2548	251757460	Disease	p.Cys647Trp	VAR_004305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004305	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	706	pfam01055	NULL
2548	251757460	Disease	p.Gly648Ser	VAR_004306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004306	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	677	cd06602	NULL
2548	251757460	Disease	p.Gly648Ser	VAR_004306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004306	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	292	cd06597	NULL
2548	251757460	Disease	p.Gly648Ser	VAR_004306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004306	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	313	cd06594	NULL
2548	251757460	Disease	p.Gly648Ser	VAR_004306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004306	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	294	cd06591	NULL
2548	251757460	Disease	p.Gly648Ser	VAR_004306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004306	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	395	cd06589	NULL
2548	251757460	Disease	p.Gly648Ser	VAR_004306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004306	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	317	cd06604	NULL
2548	251757460	Disease	p.Gly648Ser	VAR_004306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004306	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	425	cd06603	NULL
2548	251757460	Disease	p.Gly648Ser	VAR_004306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004306	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	296	cd06600	NULL
2548	251757460	Disease	p.Gly648Ser	VAR_004306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004306	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	388	cd06601	NULL
2548	251757460	Disease	p.Gly648Ser	VAR_004306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004306	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	293	cd06598	NULL
2548	251757460	Disease	p.Gly648Ser	VAR_004306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004306	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	354	cd06599	NULL
2548	251757460	Disease	p.Gly648Ser	VAR_004306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004306	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	343	cd06593	NULL
2548	251757460	Disease	p.Gly648Ser	VAR_004306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004306	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	251	cd06596	NULL
2548	251757460	Disease	p.Gly648Ser	VAR_004306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004306	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	260	cd06595	NULL
2548	251757460	Disease	p.Gly648Ser	VAR_004306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004306	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	923	COG1501	NULL
2548	251757460	Disease	p.Gly648Ser	VAR_004306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004306	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	337	cd06592	NULL
2548	251757460	Disease	p.Gly648Ser	VAR_004306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004306	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	707	pfam01055	NULL
2548	251757460	Disease	p.Arg660His	VAR_046477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046477	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	690	cd06602	NULL
2548	251757460	Disease	p.Arg660His	VAR_046477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046477	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	305	cd06597	NULL
2548	251757460	Disease	p.Arg660His	VAR_046477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046477	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	334	cd06594	NULL
2548	251757460	Disease	p.Arg660His	VAR_046477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046477	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	338	cd06591	NULL
2548	251757460	Disease	p.Arg660His	VAR_046477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046477	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	416	cd06589	NULL
2548	251757460	Disease	p.Arg660His	VAR_046477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046477	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	340	cd06604	NULL
2548	251757460	Disease	p.Arg660His	VAR_046477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046477	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	438	cd06603	NULL
2548	251757460	Disease	p.Arg660His	VAR_046477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046477	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	314	cd06600	NULL
2548	251757460	Disease	p.Arg660His	VAR_046477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046477	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	418	cd06601	NULL
2548	251757460	Disease	p.Arg660His	VAR_046477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046477	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	322	cd06598	NULL
2548	251757460	Disease	p.Arg660His	VAR_046477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046477	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	368	cd06599	NULL
2548	251757460	Disease	p.Arg660His	VAR_046477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046477	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	362	cd06593	NULL
2548	251757460	Disease	p.Arg660His	VAR_046477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046477	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	263	cd06596	NULL
2548	251757460	Disease	p.Arg660His	VAR_046477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046477	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	277	cd06595	NULL
2548	251757460	Disease	p.Arg660His	VAR_046477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046477	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	947	COG1501	NULL
2548	251757460	Disease	p.Arg660His	VAR_046477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046477	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	363	cd06592	NULL
2548	251757460	Disease	p.Arg660His	VAR_046477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046477	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	731	pfam01055	NULL
2548	251757460	Disease	p.Arg672Gln	VAR_004307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004307	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	702	cd06602	NULL
2548	251757460	Disease	p.Arg672Gln	VAR_004307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004307	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	317	cd06597	NULL
2548	251757460	Disease	p.Arg672Gln	VAR_004307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004307	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	346	cd06594	NULL
2548	251757460	Disease	p.Arg672Gln	VAR_004307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004307	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	350	cd06591	NULL
2548	251757460	Disease	p.Arg672Gln	VAR_004307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004307	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	429	cd06589	NULL
2548	251757460	Disease	p.Arg672Gln	VAR_004307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004307	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	352	cd06604	NULL
2548	251757460	Disease	p.Arg672Gln	VAR_004307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004307	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	451	cd06603	NULL
2548	251757460	Disease	p.Arg672Gln	VAR_004307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004307	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	326	cd06600	NULL
2548	251757460	Disease	p.Arg672Gln	VAR_004307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004307	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	430	cd06601	NULL
2548	251757460	Disease	p.Arg672Gln	VAR_004307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004307	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	335	cd06598	NULL
2548	251757460	Disease	p.Arg672Gln	VAR_004307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004307	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	385	cd06599	NULL
2548	251757460	Disease	p.Arg672Gln	VAR_004307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004307	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	375	cd06593	NULL
2548	251757460	Disease	p.Arg672Gln	VAR_004307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004307	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	275	cd06596	NULL
2548	251757460	Disease	p.Arg672Gln	VAR_004307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004307	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	289	cd06595	NULL
2548	251757460	Disease	p.Arg672Gln	VAR_004307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004307	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	959	COG1501	NULL
2548	251757460	Disease	p.Arg672Gln	VAR_004307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004307	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	375	cd06592	NULL
2548	251757460	Disease	p.Arg672Gln	VAR_004307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004307	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	743	pfam01055	NULL
2548	251757460	Disease	p.Arg672Thr	VAR_046478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046478	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	702	cd06602	NULL
2548	251757460	Disease	p.Arg672Thr	VAR_046478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046478	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	317	cd06597	NULL
2548	251757460	Disease	p.Arg672Thr	VAR_046478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046478	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	346	cd06594	NULL
2548	251757460	Disease	p.Arg672Thr	VAR_046478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046478	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	350	cd06591	NULL
2548	251757460	Disease	p.Arg672Thr	VAR_046478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046478	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	429	cd06589	NULL
2548	251757460	Disease	p.Arg672Thr	VAR_046478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046478	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	352	cd06604	NULL
2548	251757460	Disease	p.Arg672Thr	VAR_046478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046478	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	451	cd06603	NULL
2548	251757460	Disease	p.Arg672Thr	VAR_046478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046478	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	326	cd06600	NULL
2548	251757460	Disease	p.Arg672Thr	VAR_046478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046478	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	430	cd06601	NULL
2548	251757460	Disease	p.Arg672Thr	VAR_046478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046478	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	335	cd06598	NULL
2548	251757460	Disease	p.Arg672Thr	VAR_046478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046478	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	385	cd06599	NULL
2548	251757460	Disease	p.Arg672Thr	VAR_046478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046478	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	375	cd06593	NULL
2548	251757460	Disease	p.Arg672Thr	VAR_046478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046478	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	275	cd06596	NULL
2548	251757460	Disease	p.Arg672Thr	VAR_046478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046478	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	289	cd06595	NULL
2548	251757460	Disease	p.Arg672Thr	VAR_046478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046478	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	959	COG1501	NULL
2548	251757460	Disease	p.Arg672Thr	VAR_046478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046478	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	375	cd06592	NULL
2548	251757460	Disease	p.Arg672Thr	VAR_046478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046478	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	743	pfam01055	NULL
2548	251757460	Disease	p.Arg672Trp	VAR_004308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004308	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	702	cd06602	NULL
2548	251757460	Disease	p.Arg672Trp	VAR_004308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004308	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	317	cd06597	NULL
2548	251757460	Disease	p.Arg672Trp	VAR_004308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004308	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	346	cd06594	NULL
2548	251757460	Disease	p.Arg672Trp	VAR_004308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004308	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	350	cd06591	NULL
2548	251757460	Disease	p.Arg672Trp	VAR_004308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004308	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	429	cd06589	NULL
2548	251757460	Disease	p.Arg672Trp	VAR_004308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004308	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	352	cd06604	NULL
2548	251757460	Disease	p.Arg672Trp	VAR_004308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004308	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	451	cd06603	NULL
2548	251757460	Disease	p.Arg672Trp	VAR_004308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004308	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	326	cd06600	NULL
2548	251757460	Disease	p.Arg672Trp	VAR_004308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004308	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	430	cd06601	NULL
2548	251757460	Disease	p.Arg672Trp	VAR_004308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004308	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	335	cd06598	NULL
2548	251757460	Disease	p.Arg672Trp	VAR_004308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004308	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	385	cd06599	NULL
2548	251757460	Disease	p.Arg672Trp	VAR_004308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004308	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	375	cd06593	NULL
2548	251757460	Disease	p.Arg672Trp	VAR_004308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004308	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	275	cd06596	NULL
2548	251757460	Disease	p.Arg672Trp	VAR_004308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004308	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	289	cd06595	NULL
2548	251757460	Disease	p.Arg672Trp	VAR_004308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004308	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	959	COG1501	NULL
2548	251757460	Disease	p.Arg672Trp	VAR_004308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004308	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	375	cd06592	NULL
2548	251757460	Disease	p.Arg672Trp	VAR_004308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004308	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	743	pfam01055	NULL
2548	251757460	Disease	p.Arg702Cys	VAR_046479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046479	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	735	cd06602	NULL
2548	251757460	Disease	p.Arg702Cys	VAR_046479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046479	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	349	cd06597	NULL
2548	251757460	Disease	p.Arg702Cys	VAR_046479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046479	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	382	cd06604	NULL
2548	251757460	Disease	p.Arg702Cys	VAR_046479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046479	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	484	cd06603	NULL
2548	251757460	Disease	p.Arg702Cys	VAR_046479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046479	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	358	cd06600	NULL
2548	251757460	Disease	p.Arg702Cys	VAR_046479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046479	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	488	cd06601	NULL
2548	251757460	Disease	p.Arg702Cys	VAR_046479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046479	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	374	cd06598	NULL
2548	251757460	Disease	p.Arg702Cys	VAR_046479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046479	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	404	cd06593	NULL
2548	251757460	Disease	p.Arg702Cys	VAR_046479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046479	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	306	cd06596	NULL
2548	251757460	Disease	p.Arg702Cys	VAR_046479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046479	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	1012	COG1501	NULL
2548	251757460	Disease	p.Arg702Cys	VAR_046479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046479	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	810	pfam01055	NULL
2548	251757460	Disease	p.Arg725Trp	VAR_004310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004310	rs28939100 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	763	cd06602	NULL
2548	251757460	Disease	p.Arg725Trp	VAR_004310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004310	rs28939100 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	1035	COG1501	NULL
2548	251757460	Disease	p.Arg725Trp	VAR_004310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004310	rs28939100 Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	835	pfam01055	NULL
2548	251757460	Disease	p.Pro768Arg	VAR_004312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004312	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	1084	COG1501	NULL
2548	251757460	Disease	p.Pro768Arg	VAR_004312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004312	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	907	pfam01055	NULL
2548	251757460	Disease	p.Ala880Asp	VAR_018097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018097	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	1200	COG1501	NULL
2548	251757460	Disease	p.Leu901Gln	VAR_029039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029039	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	1221	COG1501	NULL
2548	251757460	Disease	p.Val949Asp	VAR_004318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004318	- Glycogen storage disease type 2 (GSD2) [MIM:232300]	SWISS	No Domain	N/A	NULL
2554	27808653	Disease	p.Ala322Asp	VAR_013642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013642	- Juvenile myoclonic epilepsy type 5 (EJM5) [MIM:611136]	SWISS	67	pfam02932	189083724,NP_001121115|189083734,NP_001121120|38327554,NP_000797|189083728,NP_001121117|189083732,NP_001121119|189083726,NP_001121116|189083730,NP_001121118
2562	120773	Disease	p.Gly32Arg	VAR_047957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047957	- Childhood absence epilepsy type 5 (ECA5) [MIM:612269]	SWISS	No Domain	N/A	4503867,NP_000805
2563	59802571	Disease	p.Glu177Ala	VAR_043151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043151	- Generalized epilepsy with febrile seizures plus type 5 (GEFS+5) [MIM:604233]	SWISS	178	pfam02931	34734071,NP_000806
2566	116242488	Disease	p.Arg82Gln	VAR_014265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014265	rs28933070 Childhood absence epilepsy type 2 (ECA2) [MIM:607681]	SWISS	23	pfam02931	38788135,NP_000807
2566	116242488	Disease	p.Arg82Gln	VAR_014265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014265	rs28933070 Familial febrile convulsions type 8 (FEB8) [MIM:611277]	SWISS	23	pfam02931	38788135,NP_000807
2566	116242488	Disease	p.Arg177Gly	VAR_038602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038602	- Familial febrile convulsions type 8 (FEB8) [MIM:611277]	SWISS	151	pfam02931	38788135,NP_000807
2566	116242488	Disease	p.Lys328Met	VAR_014266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014266	- Generalized epilepsy with febrile seizures plus type 3 (GEFS+3) [MIM:604233]	SWISS	51	pfam02932	38788135,NP_000807
2571	1352213	Disease	p.Ser12Cys	VAR_031021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031021	- Cerebral palsy spastic quadriplegic type 1 (CPSQ1) [MIM:603513]	SWISS	No Domain	N/A	58331246,NP_000808
2581	229462868	Disease	p.Gly59Arg	VAR_013956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013956	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	73	COG5520	NULL
2581	229462868	Disease	p.Gly59Arg	VAR_013956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013956	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	43	pfam02057	NULL
2581	229462868	Disease	p.Ser68Phe	VAR_013957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013957	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	85	COG5520	NULL
2581	229462868	Disease	p.Ser68Phe	VAR_013957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013957	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	52	pfam02057	NULL
2581	229462868	Disease	p.Arg79His	VAR_013958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013958	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	93	COG5520	NULL
2581	229462868	Disease	p.Arg79His	VAR_013958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013958	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	63	pfam02057	NULL
2581	229462868	Disease	p.Ile82Met	VAR_013959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013959	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	96	COG5520	NULL
2581	229462868	Disease	p.Ile82Met	VAR_013959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013959	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	66	pfam02057	NULL
2581	229462868	Disease	p.Gly111Asp	VAR_003380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003380	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	119	COG5520	NULL
2581	229462868	Disease	p.Gly111Asp	VAR_003380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003380	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	95	pfam02057	NULL
2581	229462868	Disease	p.Gly111Ser	VAR_003381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003381	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	119	COG5520	NULL
2581	229462868	Disease	p.Gly111Ser	VAR_003381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003381	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	95	pfam02057	NULL
2581	229462868	Disease	p.Thr112Ala	VAR_003382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003382	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	120	COG5520	NULL
2581	229462868	Disease	p.Thr112Ala	VAR_003382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003382	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	96	pfam02057	NULL
2581	229462868	Disease	p.Met117Leu	VAR_003383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003383	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	125	COG5520	NULL
2581	229462868	Disease	p.Met117Leu	VAR_003383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003383	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	101	pfam02057	NULL
2581	229462868	Disease	p.Asp187Val	VAR_003384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003384	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	218	COG5520	NULL
2581	229462868	Disease	p.Asp187Val	VAR_003384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003384	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	171	pfam02057	NULL
2581	229462868	Disease	p.Gly194Ala	VAR_003385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003385	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	225	COG5520	NULL
2581	229462868	Disease	p.Gly194Ala	VAR_003385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003385	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	178	pfam02057	NULL
2581	229462868	Disease	p.Ile250Thr	VAR_003387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003387	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	299	COG5520	NULL
2581	229462868	Disease	p.Ile250Thr	VAR_003387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003387	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	234	pfam02057	NULL
2581	229462868	Disease	p.Ala263Thr	VAR_003388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003388	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	316	COG5520	NULL
2581	229462868	Disease	p.Ala263Thr	VAR_003388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003388	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	247	pfam02057	NULL
2581	229462868	Disease	p.Thr278Ile	VAR_013961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013961	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	332	COG5520	NULL
2581	229462868	Disease	p.Thr278Ile	VAR_013961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013961	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	262	pfam02057	NULL
2581	229462868	Disease	p.Gly284Ser	VAR_003389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003389	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	338	COG5520	NULL
2581	229462868	Disease	p.Gly284Ser	VAR_003389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003389	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	268	pfam02057	NULL
2581	229462868	Disease	p.Gly286Asp	VAR_003390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003390	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	345	COG5520	NULL
2581	229462868	Disease	p.Gly286Asp	VAR_003390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003390	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	270	pfam02057	NULL
2581	229462868	Disease	p.Asn295Thr	VAR_003391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003391	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	356	COG5520	NULL
2581	229462868	Disease	p.Asn295Thr	VAR_003391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003391	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	279	pfam02057	NULL
2581	229462868	Disease	p.Ser303Phe	VAR_003392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003392	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	364	COG5520	NULL
2581	229462868	Disease	p.Ser303Phe	VAR_003392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003392	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	287	pfam02057	NULL
2581	229462868	Disease	p.Tyr314Cys	VAR_013963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013963	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	375	COG5520	NULL
2581	229462868	Disease	p.Tyr314Cys	VAR_013963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013963	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	298	pfam02057	NULL
2581	229462868	Disease	p.Pro318Ala	VAR_003393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003393	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	379	COG5520	NULL
2581	229462868	Disease	p.Pro318Ala	VAR_003393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003393	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	302	pfam02057	NULL
2581	229462868	Disease	p.Tyr335Cys	VAR_013964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013964	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	402	COG5520	NULL
2581	229462868	Disease	p.Tyr335Cys	VAR_013964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013964	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	319	pfam02057	NULL
2581	229462868	Disease	p.Arg396Trp	VAR_003394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003394	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	472	COG5520	NULL
2581	229462868	Disease	p.Arg396Trp	VAR_003394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003394	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	380	pfam02057	NULL
2581	229462868	Disease	p.Pro400Leu	VAR_003395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003395	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	476	COG5520	NULL
2581	229462868	Disease	p.Pro400Leu	VAR_003395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003395	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	384	pfam02057	NULL
2581	229462868	Disease	p.Trp426Gly	VAR_013965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013965	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	410	pfam02057	NULL
2581	229462868	Disease	p.Thr468Ser	VAR_003396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003396	rs34134328 Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	452	pfam02057	NULL
2581	229462868	Disease	p.Phe514Ser	VAR_003397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003397	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	498	pfam02057	NULL
2581	229462868	Disease	p.Thr529Met	VAR_003398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003398	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	513	pfam02057	NULL
2581	229462868	Disease	p.Arg531Cys	VAR_003399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003399	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	515	pfam02057	NULL
2581	229462868	Disease	p.Arg531His	VAR_013966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013966	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	515	pfam02057	NULL
2581	229462868	Disease	p.Asp544Asn	VAR_003400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003400	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	528	pfam02057	NULL
2581	229462868	Disease	p.Gly553Arg	VAR_013967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013967	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	537	pfam02057	NULL
2581	229462868	Disease	p.Val566Gly	VAR_003402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003402	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	550	pfam02057	NULL
2581	229462868	Disease	p.Tyr567Ser	VAR_003403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003403	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	551	pfam02057	NULL
2581	229462868	Disease	p.Ala592Ser	VAR_003404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003404	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	576	pfam02057	NULL
2581	229462868	Disease	p.Ile599Ser	VAR_003405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003405	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	583	pfam02057	NULL
2581	229462868	Disease	p.Leu634Ser	VAR_013968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013968	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	618	pfam02057	NULL
2581	229462868	Disease	p.Leu645Arg	VAR_003407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003407	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	629	pfam02057	NULL
2581	229462868	Disease	p.Thr668Arg	VAR_013969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013969	- Leukodystrophy globoid cell (GLD) [MIM:245200]	SWISS	652	pfam02057	NULL
2582	68056598	Disease	p.Ala25Val	VAR_037733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037733	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	20	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Ala25Val	VAR_037733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037733	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	21	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Ala25Val	VAR_037733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037733	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	25	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Ala25Val	VAR_037733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037733	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	25	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Ala25Val	VAR_037733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037733	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	23	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Ala25Val	VAR_037733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037733	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	23	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Ala25Val	VAR_037733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037733	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	41	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Ala25Val	VAR_037733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037733	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	21	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Ala25Val	VAR_037733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037733	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	31	pfam08659	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Ala25Val	VAR_037733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037733	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	21	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Ala25Val	VAR_037733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037733	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	22	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	VAR_002539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002539	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	35	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	VAR_002539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002539	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	21_G	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	VAR_002539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002539	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	29_G	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	VAR_002539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002539	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	34	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	VAR_002539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002539	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	35	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	VAR_002539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002539	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	30_G	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	VAR_002539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002539	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	59	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	VAR_002539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002539	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	28	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	VAR_002539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002539	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	40	pfam08659	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	VAR_002539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002539	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	39	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asn34Ser	VAR_002539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002539	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	31_G	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg40Cys	VAR_037734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037734	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	40_G	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg40Cys	VAR_037734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037734	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	21_G	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg40Cys	VAR_037734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037734	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	34	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg40Cys	VAR_037734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037734	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	40	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg40Cys	VAR_037734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037734	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	39_G	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg40Cys	VAR_037734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037734	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	34	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg40Cys	VAR_037734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037734	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	65	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg40Cys	VAR_037734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037734	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	35	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg40Cys	VAR_037734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037734	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	49	pfam08659	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg40Cys	VAR_037734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037734	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	45	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg40Cys	VAR_037734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037734	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	31_G	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp69Glu	VAR_037735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037735	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	67	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp69Glu	VAR_037735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037735	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	59	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp69Glu	VAR_037735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037735	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	68	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp69Glu	VAR_037735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037735	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	63	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp69Glu	VAR_037735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037735	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	65	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp69Glu	VAR_037735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037735	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	92	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp69Glu	VAR_037735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037735	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	106	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp69Glu	VAR_037735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037735	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	98	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp69Glu	VAR_037735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037735	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	116	pfam08659	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp69Glu	VAR_037735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037735	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	80	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp69Glu	VAR_037735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037735	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	50	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	VAR_002540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002540	rs28940882 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	86	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	VAR_002540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002540	rs28940882 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	84	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	VAR_002540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002540	rs28940882 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	89	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	VAR_002540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002540	rs28940882 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	88	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	VAR_002540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002540	rs28940882 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	91	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	VAR_002540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002540	rs28940882 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	121	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	VAR_002540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002540	rs28940882 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	158	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	VAR_002540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002540	rs28940882 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	129	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	VAR_002540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002540	rs28940882 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	148	pfam08659	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	VAR_002540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002540	rs28940882 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	108	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly90Glu	VAR_002540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002540	rs28940882 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	82	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	VAR_010058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010058	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	90	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	VAR_010058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010058	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	88	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	VAR_010058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010058	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	93	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	VAR_010058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010058	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	92	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	VAR_010058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010058	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	97	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	VAR_010058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010058	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	127	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	VAR_010058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010058	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	162	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	VAR_010058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010058	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	133	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	VAR_010058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010058	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	150	pfam08659	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	VAR_010058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010058	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	115	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Val94Met	VAR_010058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010058	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	86	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	VAR_002541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002541	rs28940883 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	103	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	VAR_002541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002541	rs28940883 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	98	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	VAR_002541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002541	rs28940883 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	102	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	VAR_002541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002541	rs28940883 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	101	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	VAR_002541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002541	rs28940883 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	106	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	VAR_002541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002541	rs28940883 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	150	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	VAR_002541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002541	rs28940883 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	174	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	VAR_002541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002541	rs28940883 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	143	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	VAR_002541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002541	rs28940883 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	161	pfam08659	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	VAR_002541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002541	rs28940883 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	125	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Asp103Gly	VAR_002541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002541	rs28940883 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	96	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Glu165Lys	VAR_037736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037736	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	172	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Glu165Lys	VAR_037736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037736	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	167	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Glu165Lys	VAR_037736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037736	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	192	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Glu165Lys	VAR_037736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037736	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	170	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Glu165Lys	VAR_037736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037736	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	170	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Glu165Lys	VAR_037736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037736	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	214	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Glu165Lys	VAR_037736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037736	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	305	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Glu165Lys	VAR_037736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037736	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	287	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Glu165Lys	VAR_037736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037736	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	240	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Glu165Lys	VAR_037736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037736	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	166	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg169Trp	VAR_037737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037737	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	175_G	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg169Trp	VAR_037737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037737	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	171	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg169Trp	VAR_037737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037737	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	196	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg169Trp	VAR_037737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037737	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	174	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg169Trp	VAR_037737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037737	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	174	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg169Trp	VAR_037737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037737	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	218	pfam00106	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg169Trp	VAR_037737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037737	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	309	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg169Trp	VAR_037737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037737	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	291	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg169Trp	VAR_037737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037737	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	244	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg169Trp	VAR_037737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037737	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	170	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	VAR_002543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002543	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	195	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	VAR_002543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002543	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	186	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	VAR_002543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002543	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	211_G	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	VAR_002543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002543	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	189	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	VAR_002543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002543	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	188	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	VAR_002543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002543	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	331	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	VAR_002543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002543	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	306	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	VAR_002543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002543	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	265	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu183Pro	VAR_002543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002543	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	182	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg239Trp	VAR_037738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037738	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	232	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg239Trp	VAR_037738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037738	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	226	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg239Trp	VAR_037738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037738	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	252	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg239Trp	VAR_037738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037738	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	251	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg239Trp	VAR_037738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037738	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	277	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg239Trp	VAR_037738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037738	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	420	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg239Trp	VAR_037738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037738	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	420	pfam07993	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg239Trp	VAR_037738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037738	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	366	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg239Trp	VAR_037738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037738	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	221	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	VAR_002544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002544	rs28940884 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	250	pfam01073	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	VAR_002544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002544	rs28940884 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	244	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	VAR_002544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002544	rs28940884 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	268_G	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	VAR_002544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002544	rs28940884 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	269	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	VAR_002544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002544	rs28940884 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	291	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	VAR_002544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002544	rs28940884 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	443	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	VAR_002544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002544	rs28940884 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	384	pfam01370	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Lys257Arg	VAR_002544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002544	rs28940884 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	243	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly302Asp	VAR_037739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037739	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	300	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly302Asp	VAR_037739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037739	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	374	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly302Asp	VAR_037739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037739	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	319	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly302Asp	VAR_037739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037739	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	370	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly302Asp	VAR_037739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037739	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	540	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly302Asp	VAR_037739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037739	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	303	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	VAR_002545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002545	rs3180383 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	315	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	VAR_002545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002545	rs3180383 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	385	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	VAR_002545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002545	rs3180383 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	330	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	VAR_002545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002545	rs3180383 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	381	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	VAR_002545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002545	rs3180383 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	552	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Leu313Met	VAR_002545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002545	rs3180383 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	317	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	VAR_002546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002546	rs28940885 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	328	COG1091	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	VAR_002546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002546	rs28940885 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	391	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	VAR_002546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002546	rs28940885 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	336	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	VAR_002546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002546	rs28940885 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	387	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	VAR_002546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002546	rs28940885 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	558	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Gly319Glu	VAR_002546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002546	rs28940885 Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	323	pfam04321	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg335His	VAR_037740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037740	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	412	COG1089	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg335His	VAR_037740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037740	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	353	COG1087	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg335His	VAR_037740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037740	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	422	COG1088	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2582	68056598	Disease	p.Arg335His	VAR_037740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037740	- Epimerase-deficiency galactosemia (EDG) [MIM:230350]	SWISS	582	COG0451	56118217,NP_001008217|189083684,NP_001121093|56237023,NP_000394
2584	1730187	Disease	p.Pro28Thr	VAR_008514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008514	- Galactosemia II [MIM:230200]	SWISS	24	COG0153	4503895,NP_000145
2584	1730187	Disease	p.Pro28Thr	VAR_008514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008514	- Galactosemia II [MIM:230200]	SWISS	22	pfam10509	4503895,NP_000145
2584	1730187	Disease	p.Val32Met	VAR_002547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002547	- Galactosemia II [MIM:230200]	SWISS	28	COG0153	4503895,NP_000145
2584	1730187	Disease	p.Val32Met	VAR_002547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002547	- Galactosemia II [MIM:230200]	SWISS	3	COG1577	4503895,NP_000145
2584	1730187	Disease	p.Val32Met	VAR_002547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002547	- Galactosemia II [MIM:230200]	SWISS	33	pfam10509	4503895,NP_000145
2584	1730187	Disease	p.Gly36Arg	VAR_023486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023486	- Galactosemia II [MIM:230200]	SWISS	32	COG0153	4503895,NP_000145
2584	1730187	Disease	p.Gly36Arg	VAR_023486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023486	- Galactosemia II [MIM:230200]	SWISS	7	COG1577	4503895,NP_000145
2584	1730187	Disease	p.Gly36Arg	VAR_023486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023486	- Galactosemia II [MIM:230200]	SWISS	37	pfam10509	4503895,NP_000145
2584	1730187	Disease	p.His44Tyr	VAR_023487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023487	- Galactosemia II [MIM:230200]	SWISS	40	COG0153	4503895,NP_000145
2584	1730187	Disease	p.His44Tyr	VAR_023487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023487	- Galactosemia II [MIM:230200]	SWISS	15	COG1577	4503895,NP_000145
2584	1730187	Disease	p.His44Tyr	VAR_023487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023487	- Galactosemia II [MIM:230200]	SWISS	45	pfam10509	4503895,NP_000145
2584	1730187	Disease	p.Arg68Cys	VAR_023488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023488	- Galactosemia II [MIM:230200]	SWISS	64	COG0153	4503895,NP_000145
2584	1730187	Disease	p.Arg68Cys	VAR_023488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023488	- Galactosemia II [MIM:230200]	SWISS	40	COG1577	4503895,NP_000145
2584	1730187	Disease	p.Ala198Val	VAR_015746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015746	- Galactosemia II [MIM:230200]	SWISS	217	COG0153	4503895,NP_000145
2584	1730187	Disease	p.Ala198Val	VAR_015746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015746	- Galactosemia II [MIM:230200]	SWISS	213	COG1577	4503895,NP_000145
2584	1730187	Disease	p.Arg239Gln	VAR_023490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023490	- Galactosemia II [MIM:230200]	SWISS	265	COG0153	4503895,NP_000145
2584	1730187	Disease	p.Arg239Gln	VAR_023490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023490	- Galactosemia II [MIM:230200]	SWISS	280	COG1577	4503895,NP_000145
2584	1730187	Disease	p.Thr288Met	VAR_023492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023492	- Galactosemia II [MIM:230200]	SWISS	394	COG0153	4503895,NP_000145
2584	1730187	Disease	p.Thr288Met	VAR_023492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023492	- Galactosemia II [MIM:230200]	SWISS	312_G	COG1577	4503895,NP_000145
2584	1730187	Disease	p.Gly346Ser	VAR_023494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023494	- Galactosemia II [MIM:230200]	SWISS	465	COG0153	4503895,NP_000145
2584	1730187	Disease	p.Gly346Ser	VAR_023494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023494	- Galactosemia II [MIM:230200]	SWISS	84	pfam08544	4503895,NP_000145
2584	1730187	Disease	p.Gly346Ser	VAR_023494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023494	- Galactosemia II [MIM:230200]	SWISS	385	COG1577	4503895,NP_000145
2584	1730187	Disease	p.Gly349Ser	VAR_023495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023495	- Galactosemia II [MIM:230200]	SWISS	468	COG0153	4503895,NP_000145
2584	1730187	Disease	p.Gly349Ser	VAR_023495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023495	- Galactosemia II [MIM:230200]	SWISS	87	pfam08544	4503895,NP_000145
2584	1730187	Disease	p.Gly349Ser	VAR_023495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023495	- Galactosemia II [MIM:230200]	SWISS	388	COG1577	4503895,NP_000145
2584	1730187	Disease	p.Ala384Pro	VAR_023496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023496	- Galactosemia II [MIM:230200]	SWISS	517	COG0153	4503895,NP_000145
2584	1730187	Disease	p.Ala384Pro	VAR_023496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023496	- Galactosemia II [MIM:230200]	SWISS	438	COG1577	4503895,NP_000145
2588	462148	Disease	p.Leu15Met	VAR_024873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024873	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	No Domain	N/A	4503899,NP_000503
2588	462148	Disease	p.Gly23Arg	VAR_024875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024875	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	No Domain	N/A	4503899,NP_000503
2588	462148	Disease	p.Leu36Pro	VAR_024876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024876	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	24	COG3119	4503899,NP_000503
2588	462148	Disease	p.Leu36Pro	VAR_024876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024876	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	6	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Met41Leu	VAR_024877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024877	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	29	COG3119	4503899,NP_000503
2588	462148	Disease	p.Met41Leu	VAR_024877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024877	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	11	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Gly42Glu	VAR_024878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024878	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	30	COG3119	4503899,NP_000503
2588	462148	Disease	p.Gly42Glu	VAR_024878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024878	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	12	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Gly47Arg	VAR_007172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007172	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	35	COG3119	4503899,NP_000503
2588	462148	Disease	p.Gly47Arg	VAR_007172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007172	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	21	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Ser53Phe	VAR_024880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024880	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	41	COG3119	4503899,NP_000503
2588	462148	Disease	p.Ser53Phe	VAR_024880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024880	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	27	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Asp60Asn	VAR_007173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007173	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	74	COG3119	4503899,NP_000503
2588	462148	Disease	p.Asp60Asn	VAR_007173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007173	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	65	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Arg61Trp	VAR_024881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024881	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	75	COG3119	4503899,NP_000503
2588	462148	Disease	p.Arg61Trp	VAR_024881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024881	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	66	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Phe69Val	VAR_024882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024882	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	83	COG3119	4503899,NP_000503
2588	462148	Disease	p.Phe69Val	VAR_024882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024882	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	76	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Pro77Arg	VAR_007175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007175	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	91	COG3119	4503899,NP_000503
2588	462148	Disease	p.Pro77Arg	VAR_007175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007175	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	86	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Cys79Tyr	VAR_024884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024884	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	93	COG3119	4503899,NP_000503
2588	462148	Disease	p.Cys79Tyr	VAR_024884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024884	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	88	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Ser80Leu	VAR_007177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007177	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	94	COG3119	4503899,NP_000503
2588	462148	Disease	p.Ser80Leu	VAR_007177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007177	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	89	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Arg90Trp	VAR_007178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007178	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	104	COG3119	4503899,NP_000503
2588	462148	Disease	p.Arg90Trp	VAR_007178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007178	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	99	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Arg94Cys	VAR_007179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007179	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	108	COG3119	4503899,NP_000503
2588	462148	Disease	p.Arg94Cys	VAR_007179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007179	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	103	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Arg94Gly	VAR_007180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007180	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	108	COG3119	4503899,NP_000503
2588	462148	Disease	p.Arg94Gly	VAR_007180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007180	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	103	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Arg94Leu	VAR_024885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024885	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	108	COG3119	4503899,NP_000503
2588	462148	Disease	p.Arg94Leu	VAR_024885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024885	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	103	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Gly96Cys	VAR_007181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007181	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	110	COG3119	4503899,NP_000503
2588	462148	Disease	p.Gly96Cys	VAR_007181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007181	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	105	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Gly96Val	VAR_007182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007182	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	110	COG3119	4503899,NP_000503
2588	462148	Disease	p.Gly96Val	VAR_007182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007182	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	105	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Phe97Val	VAR_007183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007183	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	111	COG3119	4503899,NP_000503
2588	462148	Disease	p.Phe97Val	VAR_007183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007183	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	106	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Ala107Thr	VAR_024886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024886	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	130	COG3119	4503899,NP_000503
2588	462148	Disease	p.Ala107Thr	VAR_024886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024886	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	116	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Gln111Arg	VAR_007184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007184	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	131_G	COG3119	4503899,NP_000503
2588	462148	Disease	p.Gln111Arg	VAR_007184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007184	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	121	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Ile113Phe	VAR_007185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007185	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	131_G	COG3119	4503899,NP_000503
2588	462148	Disease	p.Ile113Phe	VAR_007185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007185	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	123	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Gly116Ser	VAR_024887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024887	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	134	COG3119	4503899,NP_000503
2588	462148	Disease	p.Gly116Ser	VAR_024887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024887	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	126	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Pro125Leu	VAR_007186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007186	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	143	COG3119	4503899,NP_000503
2588	462148	Disease	p.Pro125Leu	VAR_007186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007186	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	135	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Ser135Arg	VAR_007187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007187	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	153	COG3119	4503899,NP_000503
2588	462148	Disease	p.Ser135Arg	VAR_007187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007187	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	146	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Val138Ala	VAR_007188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007188	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	156	COG3119	4503899,NP_000503
2588	462148	Disease	p.Val138Ala	VAR_007188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007188	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	149	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Gly139Ser	VAR_007189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007189	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	157	COG3119	4503899,NP_000503
2588	462148	Disease	p.Gly139Ser	VAR_007189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007189	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	150	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Trp141Cys	VAR_024888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024888	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	159	COG3119	4503899,NP_000503
2588	462148	Disease	p.Trp141Cys	VAR_024888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024888	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	152	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Trp141Arg	VAR_007190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007190	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	159	COG3119	4503899,NP_000503
2588	462148	Disease	p.Trp141Arg	VAR_007190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007190	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	152	pfam00884	4503899,NP_000503
2588	462148	Disease	p.His150Tyr	VAR_024889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024889	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	180	COG3119	4503899,NP_000503
2588	462148	Disease	p.His150Tyr	VAR_024889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024889	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	161	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Pro151Leu	VAR_007191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007191	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	197	COG3119	4503899,NP_000503
2588	462148	Disease	p.Pro151Leu	VAR_007191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007191	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	162	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Pro151Ser	VAR_007192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007192	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	197	COG3119	4503899,NP_000503
2588	462148	Disease	p.Pro151Ser	VAR_007192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007192	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	162	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Gly155Glu	VAR_024890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024890	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	201	COG3119	4503899,NP_000503
2588	462148	Disease	p.Gly155Glu	VAR_024890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024890	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	191	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Gly155Arg	VAR_007193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007193	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	201	COG3119	4503899,NP_000503
2588	462148	Disease	p.Gly155Arg	VAR_007193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007193	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	191	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Phe156Cys	VAR_007194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007194	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	202	COG3119	4503899,NP_000503
2588	462148	Disease	p.Phe156Cys	VAR_007194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007194	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	192	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Phe156Ser	VAR_007195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007195	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	202	COG3119	4503899,NP_000503
2588	462148	Disease	p.Phe156Ser	VAR_007195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007195	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	192	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Ser162Phe	VAR_024891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024891	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	214	COG3119	4503899,NP_000503
2588	462148	Disease	p.Ser162Phe	VAR_024891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024891	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	199	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Asn164Thr	VAR_024892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024892	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	216	COG3119	4503899,NP_000503
2588	462148	Disease	p.Asn164Thr	VAR_024892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024892	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	201	pfam00884	4503899,NP_000503
2588	462148	Disease	p.His166Gln	VAR_007196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007196	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	218	COG3119	4503899,NP_000503
2588	462148	Disease	p.His166Gln	VAR_007196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007196	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	203	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Phe167Val	VAR_024893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024893	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	219	COG3119	4503899,NP_000503
2588	462148	Disease	p.Phe167Val	VAR_024893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024893	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	204	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Gly168Arg	VAR_007197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007197	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	220	COG3119	4503899,NP_000503
2588	462148	Disease	p.Gly168Arg	VAR_007197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007197	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	205	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Asp171Ala	VAR_024894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024894	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	223	COG3119	4503899,NP_000503
2588	462148	Disease	p.Asp171Ala	VAR_024894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024894	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	208	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Pro179His	VAR_007199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007199	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	234	COG3119	4503899,NP_000503
2588	462148	Disease	p.Pro179His	VAR_007199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007199	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	216	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Pro179Leu	VAR_007200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007200	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	234	COG3119	4503899,NP_000503
2588	462148	Disease	p.Pro179Leu	VAR_007200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007200	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	216	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Pro179Ser	VAR_024895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024895	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	234	COG3119	4503899,NP_000503
2588	462148	Disease	p.Pro179Ser	VAR_024895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024895	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	216	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Glu185Gly	VAR_007201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007201	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	242	COG3119	4503899,NP_000503
2588	462148	Disease	p.Glu185Gly	VAR_007201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007201	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	222	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Ala203Val	VAR_024896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024896	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	279	COG3119	4503899,NP_000503
2588	462148	Disease	p.Ala203Val	VAR_024896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024896	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	295	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Asn204Lys	VAR_007203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007203	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	280	COG3119	4503899,NP_000503
2588	462148	Disease	p.Asn204Lys	VAR_007203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007203	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	296	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Trp230Gly	VAR_007204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007204	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	315	COG3119	4503899,NP_000503
2588	462148	Disease	p.Trp230Gly	VAR_007204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007204	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	326	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Asp233Asn	VAR_024897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024897	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	318	COG3119	4503899,NP_000503
2588	462148	Disease	p.Asp233Asn	VAR_024897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024897	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	329	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Val239Phe	VAR_024898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024898	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	324	COG3119	4503899,NP_000503
2588	462148	Disease	p.Val239Phe	VAR_024898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024898	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	346	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Gly247Asp	VAR_007206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007206	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	353	COG3119	4503899,NP_000503
2588	462148	Disease	p.Gly247Asp	VAR_007206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007206	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	357	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Arg253Trp	VAR_024899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024899	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	365	COG3119	4503899,NP_000503
2588	462148	Disease	p.Arg253Trp	VAR_024899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024899	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	443	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Ala257Thr	VAR_007207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007207	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	369	COG3119	4503899,NP_000503
2588	462148	Disease	p.Ala257Thr	VAR_007207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007207	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	447	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Arg259Gln	VAR_007208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007208	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	371	COG3119	4503899,NP_000503
2588	462148	Disease	p.Arg259Gln	VAR_007208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007208	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	449	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Glu260Asp	VAR_024900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024900	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	372	COG3119	4503899,NP_000503
2588	462148	Disease	p.Glu260Asp	VAR_024900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024900	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	450	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Phe284Val	VAR_007210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007210	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	399	COG3119	4503899,NP_000503
2588	462148	Disease	p.Phe284Val	VAR_007210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007210	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	474	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Ser287Leu	VAR_007211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007211	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	403	COG3119	4503899,NP_000503
2588	462148	Disease	p.Ser287Leu	VAR_007211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007211	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	478	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Gly290Ser	VAR_007212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007212	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	406	COG3119	4503899,NP_000503
2588	462148	Disease	p.Gly290Ser	VAR_007212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007212	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	481	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Ala291Asp	VAR_007213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007213	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	407	COG3119	4503899,NP_000503
2588	462148	Disease	p.Ala291Asp	VAR_007213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007213	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	482	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Ala291Thr	VAR_007214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007214	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	407	COG3119	4503899,NP_000503
2588	462148	Disease	p.Ala291Thr	VAR_007214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007214	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	482	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Ser295Phe	VAR_007215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007215	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	430	COG3119	4503899,NP_000503
2588	462148	Disease	p.Ser295Phe	VAR_007215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007215	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	486	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Gly301Cys	VAR_007216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007216	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	462	COG3119	4503899,NP_000503
2588	462148	Disease	p.Gly301Cys	VAR_007216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007216	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	537	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Leu307Pro	VAR_024902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024902	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	468	COG3119	4503899,NP_000503
2588	462148	Disease	p.Leu307Pro	VAR_024902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024902	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	543	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Gly309Arg	VAR_007217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007217	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	470	COG3119	4503899,NP_000503
2588	462148	Disease	p.Gly309Arg	VAR_007217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007217	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	545	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Lys310Asn	VAR_024903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024903	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	471	COG3119	4503899,NP_000503
2588	462148	Disease	p.Lys310Asn	VAR_024903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024903	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	546	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Thr312Ser	VAR_007218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007218	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	474	COG3119	4503899,NP_000503
2588	462148	Disease	p.Thr312Ser	VAR_007218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007218	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	549	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Met318Arg	VAR_007219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007219	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	480	COG3119	4503899,NP_000503
2588	462148	Disease	p.Met318Arg	VAR_007219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007219	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	555	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Trp325Cys	VAR_024904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024904	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	487	COG3119	4503899,NP_000503
2588	462148	Disease	p.Trp325Cys	VAR_024904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024904	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	562	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Gly340Asp	VAR_024905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024905	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	505	COG3119	4503899,NP_000503
2588	462148	Disease	p.Gly340Asp	VAR_024905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024905	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	587	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Ser341Arg	VAR_024906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024906	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	506	COG3119	4503899,NP_000503
2588	462148	Disease	p.Ser341Arg	VAR_024906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024906	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	588	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Met343Arg	VAR_007221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007221	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	508	COG3119	4503899,NP_000503
2588	462148	Disease	p.Met343Arg	VAR_007221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007221	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	594	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Asp344Glu	VAR_007222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007222	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	509	COG3119	4503899,NP_000503
2588	462148	Disease	p.Asp344Glu	VAR_007222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007222	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	595	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Asp344Asn	VAR_007223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007223	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	509	COG3119	4503899,NP_000503
2588	462148	Disease	p.Asp344Asn	VAR_007223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007223	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	595	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Leu345Pro	VAR_024907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024907	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	510	COG3119	4503899,NP_000503
2588	462148	Disease	p.Leu345Pro	VAR_024907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024907	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	596	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Phe346Leu	VAR_007224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007224	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	511	COG3119	4503899,NP_000503
2588	462148	Disease	p.Phe346Leu	VAR_007224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007224	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	597	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Ala351Val	VAR_007225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007225	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	516	COG3119	4503899,NP_000503
2588	462148	Disease	p.Ala351Val	VAR_007225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007225	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	602	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Leu352Pro	VAR_024908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024908	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	517	COG3119	4503899,NP_000503
2588	462148	Disease	p.Leu352Pro	VAR_024908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024908	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	603	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Pro357Leu	VAR_024909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024909	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	522	COG3119	4503899,NP_000503
2588	462148	Disease	p.Pro357Leu	VAR_024909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024909	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	624	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Arg361Gly	VAR_007226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007226	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	526	COG3119	4503899,NP_000503
2588	462148	Disease	p.Arg361Gly	VAR_007226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007226	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	637	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Leu369Pro	VAR_024910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024910	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	534	COG3119	4503899,NP_000503
2588	462148	Disease	p.Leu369Pro	VAR_024910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024910	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	645	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Arg376Gln	VAR_007227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007227	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	543	COG3119	4503899,NP_000503
2588	462148	Disease	p.Arg376Gln	VAR_007227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007227	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	706	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Arg380Ser	VAR_024911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024911	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	547	COG3119	4503899,NP_000503
2588	462148	Disease	p.Arg380Ser	VAR_024911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024911	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	710	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Arg380Thr	VAR_024912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024912	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	547	COG3119	4503899,NP_000503
2588	462148	Disease	p.Arg380Thr	VAR_024912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024912	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	710	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Arg386Cys	VAR_007228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007228	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	553	COG3119	4503899,NP_000503
2588	462148	Disease	p.Arg386Cys	VAR_007228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007228	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	716	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Arg386His	VAR_024913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024913	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	553	COG3119	4503899,NP_000503
2588	462148	Disease	p.Arg386His	VAR_024913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024913	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	716	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Asp388Asn	VAR_024914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024914	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	555	COG3119	4503899,NP_000503
2588	462148	Disease	p.Asp388Asn	VAR_024914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024914	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	718	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Met391Val	VAR_007229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007229	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	559	COG3119	4503899,NP_000503
2588	462148	Disease	p.Met391Val	VAR_007229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007229	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	721	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Ala392Val	VAR_024915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024915	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	560	COG3119	4503899,NP_000503
2588	462148	Disease	p.Ala392Val	VAR_024915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024915	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	722	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Leu395Pro	VAR_007231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007231	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	563	COG3119	4503899,NP_000503
2588	462148	Disease	p.Leu395Pro	VAR_007231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007231	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	725	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Leu395Val	VAR_007232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007232	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	563	COG3119	4503899,NP_000503
2588	462148	Disease	p.Leu395Val	VAR_007232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007232	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	725	pfam00884	4503899,NP_000503
2588	462148	Disease	p.His398Asp	VAR_024916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024916	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	566	COG3119	4503899,NP_000503
2588	462148	Disease	p.His398Asp	VAR_024916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024916	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	728	pfam00884	4503899,NP_000503
2588	462148	Disease	p.His401Tyr	VAR_024917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024917	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	569	COG3119	4503899,NP_000503
2588	462148	Disease	p.His401Tyr	VAR_024917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024917	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	731	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Asn407His	VAR_007233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007233	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	575	COG3119	4503899,NP_000503
2588	462148	Disease	p.Asn407His	VAR_007233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007233	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	737	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Trp409Ser	VAR_007234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007234	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	577	COG3119	4503899,NP_000503
2588	462148	Disease	p.Trp409Ser	VAR_007234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007234	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	767	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Glu450Val	VAR_007235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007235	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	623	COG3119	4503899,NP_000503
2588	462148	Disease	p.Glu450Val	VAR_007235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007235	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	808	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Phe452Ile	VAR_024919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024919	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	625	COG3119	4503899,NP_000503
2588	462148	Disease	p.Phe452Ile	VAR_024919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024919	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	810	pfam00884	4503899,NP_000503
2588	462148	Disease	p.Ser470Pro	VAR_024920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024920	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	652	COG3119	4503899,NP_000503
2588	462148	Disease	p.Pro484Ser	VAR_024921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024921	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	691	COG3119	4503899,NP_000503
2588	462148	Disease	p.Asn487Ser	VAR_007237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007237	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	No Domain	N/A	4503899,NP_000503
2588	462148	Disease	p.Met494Val	VAR_007239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007239	- Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]	SWISS	No Domain	N/A	4503899,NP_000503
2592	3183522	Disease	p.Asp28Tyr	VAR_002548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002548	- Galactosemia [MIM:230400]	SWISS	8	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Ile32Asn	VAR_002549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002549	- Galactosemia [MIM:230400]	SWISS	51	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Ile32Asn	VAR_002549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002549	- Galactosemia [MIM:230400]	SWISS	2	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Ile32Asn	VAR_002549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002549	- Galactosemia [MIM:230400]	SWISS	4	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Gln38Pro	VAR_002550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002550	- Galactosemia [MIM:230400]	SWISS	59	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Gln38Pro	VAR_002550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002550	- Galactosemia [MIM:230400]	SWISS	9	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Gln38Pro	VAR_002550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002550	- Galactosemia [MIM:230400]	SWISS	10	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Val44Leu	VAR_002551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002551	- Galactosemia [MIM:230400]	SWISS	94	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Val44Leu	VAR_002551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002551	- Galactosemia [MIM:230400]	SWISS	15	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Val44Leu	VAR_002551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002551	- Galactosemia [MIM:230400]	SWISS	16	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Val44Met	VAR_002552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002552	- Galactosemia [MIM:230400]	SWISS	94	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Val44Met	VAR_002552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002552	- Galactosemia [MIM:230400]	SWISS	15	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Val44Met	VAR_002552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002552	- Galactosemia [MIM:230400]	SWISS	16	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Ser45Leu	VAR_008042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008042	- Galactosemia [MIM:230400]	SWISS	95	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Ser45Leu	VAR_008042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008042	- Galactosemia [MIM:230400]	SWISS	16	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Ser45Leu	VAR_008042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008042	- Galactosemia [MIM:230400]	SWISS	17	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg51Leu	VAR_002553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002553	- Galactosemia [MIM:230400]	SWISS	143	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Arg51Leu	VAR_002553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002553	- Galactosemia [MIM:230400]	SWISS	22	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg51Leu	VAR_002553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002553	- Galactosemia [MIM:230400]	SWISS	23	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg51Gln	VAR_023328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023328	- Galactosemia [MIM:230400]	SWISS	143	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Arg51Gln	VAR_023328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023328	- Galactosemia [MIM:230400]	SWISS	22	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg51Gln	VAR_023328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023328	- Galactosemia [MIM:230400]	SWISS	23	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Gly55Cys	VAR_002554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002554	- Galactosemia [MIM:230400]	SWISS	161	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Gly55Cys	VAR_002554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002554	- Galactosemia [MIM:230400]	SWISS	26	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Gly55Cys	VAR_002554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002554	- Galactosemia [MIM:230400]	SWISS	27	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg67Cys	VAR_002556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002556	- Galactosemia [MIM:230400]	SWISS	200	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Arg67Cys	VAR_002556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002556	- Galactosemia [MIM:230400]	SWISS	42	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg67Cys	VAR_002556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002556	- Galactosemia [MIM:230400]	SWISS	39	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Leu74Pro	VAR_002557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002557	- Galactosemia [MIM:230400]	SWISS	213	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Leu74Pro	VAR_002557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002557	- Galactosemia [MIM:230400]	SWISS	49	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Leu74Pro	VAR_002557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002557	- Galactosemia [MIM:230400]	SWISS	46	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Ala81Thr	VAR_002558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002558	- Galactosemia [MIM:230400]	SWISS	224	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Ala81Thr	VAR_002558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002558	- Galactosemia [MIM:230400]	SWISS	56	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Ala81Thr	VAR_002558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002558	- Galactosemia [MIM:230400]	SWISS	53	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Asn97Ser	VAR_002559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002559	- Galactosemia [MIM:230400]	SWISS	249	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Asn97Ser	VAR_002559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002559	- Galactosemia [MIM:230400]	SWISS	12	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Asn97Ser	VAR_002559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002559	- Galactosemia [MIM:230400]	SWISS	87	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Asn97Ser	VAR_002559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002559	- Galactosemia [MIM:230400]	SWISS	92	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Asp98Asn	VAR_002560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002560	- Galactosemia [MIM:230400]	SWISS	250	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Asp98Asn	VAR_002560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002560	- Galactosemia [MIM:230400]	SWISS	13	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Asp98Asn	VAR_002560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002560	- Galactosemia [MIM:230400]	SWISS	88	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Asp98Asn	VAR_002560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002560	- Galactosemia [MIM:230400]	SWISS	93	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Asp113Asn	VAR_002561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002561	- Galactosemia [MIM:230400]	SWISS	292	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Asp113Asn	VAR_002561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002561	- Galactosemia [MIM:230400]	SWISS	28	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Asp113Asn	VAR_002561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002561	- Galactosemia [MIM:230400]	SWISS	117	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Asp113Asn	VAR_002561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002561	- Galactosemia [MIM:230400]	SWISS	109	COG1085	22165416,NP_000146
2592	3183522	Disease	p.His114Leu	VAR_002562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002562	- Galactosemia [MIM:230400]	SWISS	296	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.His114Leu	VAR_002562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002562	- Galactosemia [MIM:230400]	SWISS	29	cd00468	22165416,NP_000146
2592	3183522	Disease	p.His114Leu	VAR_002562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002562	- Galactosemia [MIM:230400]	SWISS	118	cd00608	22165416,NP_000146
2592	3183522	Disease	p.His114Leu	VAR_002562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002562	- Galactosemia [MIM:230400]	SWISS	119	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Phe117Ser	VAR_002563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002563	- Galactosemia [MIM:230400]	SWISS	316	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Phe117Ser	VAR_002563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002563	- Galactosemia [MIM:230400]	SWISS	32	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Phe117Ser	VAR_002563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002563	- Galactosemia [MIM:230400]	SWISS	121	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Phe117Ser	VAR_002563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002563	- Galactosemia [MIM:230400]	SWISS	122	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Gln118His	VAR_002564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002564	- Galactosemia [MIM:230400]	SWISS	319	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Gln118His	VAR_002564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002564	- Galactosemia [MIM:230400]	SWISS	33	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Gln118His	VAR_002564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002564	- Galactosemia [MIM:230400]	SWISS	122	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Gln118His	VAR_002564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002564	- Galactosemia [MIM:230400]	SWISS	123	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg123Gly	VAR_002565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002565	- Galactosemia [MIM:230400]	SWISS	324	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Arg123Gly	VAR_002565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002565	- Galactosemia [MIM:230400]	SWISS	38	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Arg123Gly	VAR_002565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002565	- Galactosemia [MIM:230400]	SWISS	127	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg123Gly	VAR_002565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002565	- Galactosemia [MIM:230400]	SWISS	128	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg123Gln	VAR_002566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002566	- Galactosemia [MIM:230400]	SWISS	324	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Arg123Gln	VAR_002566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002566	- Galactosemia [MIM:230400]	SWISS	38	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Arg123Gln	VAR_002566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002566	- Galactosemia [MIM:230400]	SWISS	127	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg123Gln	VAR_002566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002566	- Galactosemia [MIM:230400]	SWISS	128	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Val125Ala	VAR_002567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002567	- Galactosemia [MIM:230400]	SWISS	327	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Val125Ala	VAR_002567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002567	- Galactosemia [MIM:230400]	SWISS	40	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Val125Ala	VAR_002567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002567	- Galactosemia [MIM:230400]	SWISS	129	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Val125Ala	VAR_002567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002567	- Galactosemia [MIM:230400]	SWISS	130	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Lys127Glu	VAR_002568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002568	- Galactosemia [MIM:230400]	SWISS	329	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Lys127Glu	VAR_002568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002568	- Galactosemia [MIM:230400]	SWISS	42	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Lys127Glu	VAR_002568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002568	- Galactosemia [MIM:230400]	SWISS	131	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Lys127Glu	VAR_002568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002568	- Galactosemia [MIM:230400]	SWISS	132	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Met129Thr	VAR_008043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008043	- Galactosemia [MIM:230400]	SWISS	331	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Met129Thr	VAR_008043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008043	- Galactosemia [MIM:230400]	SWISS	44	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Met129Thr	VAR_008043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008043	- Galactosemia [MIM:230400]	SWISS	133	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Met129Thr	VAR_008043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008043	- Galactosemia [MIM:230400]	SWISS	134	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Cys130Tyr	VAR_002569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002569	- Galactosemia [MIM:230400]	SWISS	332	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Cys130Tyr	VAR_002569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002569	- Galactosemia [MIM:230400]	SWISS	45	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Cys130Tyr	VAR_002569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002569	- Galactosemia [MIM:230400]	SWISS	134	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Cys130Tyr	VAR_002569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002569	- Galactosemia [MIM:230400]	SWISS	135	COG1085	22165416,NP_000146
2592	3183522	Disease	p.His132Tyr	VAR_002570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002570	- Galactosemia [MIM:230400]	SWISS	334	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.His132Tyr	VAR_002570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002570	- Galactosemia [MIM:230400]	SWISS	47	cd00468	22165416,NP_000146
2592	3183522	Disease	p.His132Tyr	VAR_002570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002570	- Galactosemia [MIM:230400]	SWISS	136	cd00608	22165416,NP_000146
2592	3183522	Disease	p.His132Tyr	VAR_002570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002570	- Galactosemia [MIM:230400]	SWISS	145	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Ser135Leu	VAR_002571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002571	- Galactosemia [MIM:230400]	SWISS	337	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Ser135Leu	VAR_002571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002571	- Galactosemia [MIM:230400]	SWISS	50	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Ser135Leu	VAR_002571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002571	- Galactosemia [MIM:230400]	SWISS	139	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Ser135Leu	VAR_002571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002571	- Galactosemia [MIM:230400]	SWISS	148	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Ser135Trp	VAR_023329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023329	- Galactosemia [MIM:230400]	SWISS	337	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Ser135Trp	VAR_023329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023329	- Galactosemia [MIM:230400]	SWISS	50	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Ser135Trp	VAR_023329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023329	- Galactosemia [MIM:230400]	SWISS	139	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Ser135Trp	VAR_023329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023329	- Galactosemia [MIM:230400]	SWISS	148	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Thr138Met	VAR_002572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002572	- Galactosemia [MIM:230400]	SWISS	348	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Thr138Met	VAR_002572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002572	- Galactosemia [MIM:230400]	SWISS	53	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Thr138Met	VAR_002572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002572	- Galactosemia [MIM:230400]	SWISS	143	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Thr138Met	VAR_002572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002572	- Galactosemia [MIM:230400]	SWISS	187	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Leu139Pro	VAR_002573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002573	- Galactosemia [MIM:230400]	SWISS	349	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Leu139Pro	VAR_002573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002573	- Galactosemia [MIM:230400]	SWISS	54	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Leu139Pro	VAR_002573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002573	- Galactosemia [MIM:230400]	SWISS	144	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Leu139Pro	VAR_002573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002573	- Galactosemia [MIM:230400]	SWISS	188	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Met142Lys	VAR_002574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002574	- Galactosemia [MIM:230400]	SWISS	358	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Met142Lys	VAR_002574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002574	- Galactosemia [MIM:230400]	SWISS	60	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Met142Lys	VAR_002574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002574	- Galactosemia [MIM:230400]	SWISS	147	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Met142Lys	VAR_002574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002574	- Galactosemia [MIM:230400]	SWISS	191	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Met142Val	VAR_002575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002575	- Galactosemia [MIM:230400]	SWISS	358	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Met142Val	VAR_002575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002575	- Galactosemia [MIM:230400]	SWISS	60	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Met142Val	VAR_002575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002575	- Galactosemia [MIM:230400]	SWISS	147	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Met142Val	VAR_002575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002575	- Galactosemia [MIM:230400]	SWISS	191	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Ser143Leu	VAR_002576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002576	- Galactosemia [MIM:230400]	SWISS	359	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Ser143Leu	VAR_002576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002576	- Galactosemia [MIM:230400]	SWISS	61	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Ser143Leu	VAR_002576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002576	- Galactosemia [MIM:230400]	SWISS	148	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Ser143Leu	VAR_002576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002576	- Galactosemia [MIM:230400]	SWISS	192	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg148Gly	VAR_002577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002577	- Galactosemia [MIM:230400]	SWISS	383	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Arg148Gly	VAR_002577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002577	- Galactosemia [MIM:230400]	SWISS	66	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Arg148Gly	VAR_002577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002577	- Galactosemia [MIM:230400]	SWISS	153	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg148Gly	VAR_002577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002577	- Galactosemia [MIM:230400]	SWISS	197	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg148Gln	VAR_002578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002578	- Galactosemia [MIM:230400]	SWISS	383	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Arg148Gln	VAR_002578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002578	- Galactosemia [MIM:230400]	SWISS	66	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Arg148Gln	VAR_002578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002578	- Galactosemia [MIM:230400]	SWISS	153	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg148Gln	VAR_002578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002578	- Galactosemia [MIM:230400]	SWISS	197	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg148Trp	VAR_002579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002579	- Galactosemia [MIM:230400]	SWISS	383	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Arg148Trp	VAR_002579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002579	- Galactosemia [MIM:230400]	SWISS	66	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Arg148Trp	VAR_002579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002579	- Galactosemia [MIM:230400]	SWISS	153	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg148Trp	VAR_002579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002579	- Galactosemia [MIM:230400]	SWISS	197	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Val150Leu	VAR_002580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002580	- Galactosemia [MIM:230400]	SWISS	385	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Val150Leu	VAR_002580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002580	- Galactosemia [MIM:230400]	SWISS	68	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Val150Leu	VAR_002580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002580	- Galactosemia [MIM:230400]	SWISS	155	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Val150Leu	VAR_002580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002580	- Galactosemia [MIM:230400]	SWISS	199	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Val151Ala	VAR_002581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002581	- Galactosemia [MIM:230400]	SWISS	386	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Val151Ala	VAR_002581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002581	- Galactosemia [MIM:230400]	SWISS	69	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Val151Ala	VAR_002581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002581	- Galactosemia [MIM:230400]	SWISS	156	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Val151Ala	VAR_002581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002581	- Galactosemia [MIM:230400]	SWISS	200	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Trp154Gly	VAR_002582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002582	- Galactosemia [MIM:230400]	SWISS	424	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Trp154Gly	VAR_002582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002582	- Galactosemia [MIM:230400]	SWISS	72	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Trp154Gly	VAR_002582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002582	- Galactosemia [MIM:230400]	SWISS	159	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Trp154Gly	VAR_002582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002582	- Galactosemia [MIM:230400]	SWISS	203	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Trp167Arg	VAR_008044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008044	- Galactosemia [MIM:230400]	SWISS	529	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Trp167Arg	VAR_008044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008044	- Galactosemia [MIM:230400]	SWISS	90	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Trp167Arg	VAR_008044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008044	- Galactosemia [MIM:230400]	SWISS	198	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Trp167Arg	VAR_008044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008044	- Galactosemia [MIM:230400]	SWISS	224	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Phe171Ser	VAR_002583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002583	- Galactosemia [MIM:230400]	SWISS	533	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Phe171Ser	VAR_002583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002583	- Galactosemia [MIM:230400]	SWISS	94	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Phe171Ser	VAR_002583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002583	- Galactosemia [MIM:230400]	SWISS	202	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Phe171Ser	VAR_002583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002583	- Galactosemia [MIM:230400]	SWISS	228	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Gly179Asp	VAR_002584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002584	- Galactosemia [MIM:230400]	SWISS	541	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Gly179Asp	VAR_002584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002584	- Galactosemia [MIM:230400]	SWISS	102	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Gly179Asp	VAR_002584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002584	- Galactosemia [MIM:230400]	SWISS	210	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Gly179Asp	VAR_002584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002584	- Galactosemia [MIM:230400]	SWISS	236	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Pro183Thr	VAR_002585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002585	- Galactosemia [MIM:230400]	SWISS	551	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Pro183Thr	VAR_002585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002585	- Galactosemia [MIM:230400]	SWISS	106	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Pro183Thr	VAR_002585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002585	- Galactosemia [MIM:230400]	SWISS	214	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Pro183Thr	VAR_002585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002585	- Galactosemia [MIM:230400]	SWISS	240	COG1085	22165416,NP_000146
2592	3183522	Disease	p.His184Gln	VAR_002586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002586	- Galactosemia [MIM:230400]	SWISS	552	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.His184Gln	VAR_002586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002586	- Galactosemia [MIM:230400]	SWISS	107	cd00468	22165416,NP_000146
2592	3183522	Disease	p.His184Gln	VAR_002586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002586	- Galactosemia [MIM:230400]	SWISS	215	cd00608	22165416,NP_000146
2592	3183522	Disease	p.His184Gln	VAR_002586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002586	- Galactosemia [MIM:230400]	SWISS	241	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Gln188Arg	VAR_002587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002587	- Galactosemia [MIM:230400]	SWISS	585	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Gln188Arg	VAR_002587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002587	- Galactosemia [MIM:230400]	SWISS	111	cd00468	22165416,NP_000146
2592	3183522	Disease	p.Gln188Arg	VAR_002587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002587	- Galactosemia [MIM:230400]	SWISS	219	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Gln188Arg	VAR_002587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002587	- Galactosemia [MIM:230400]	SWISS	245	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Ser192Asn	VAR_002588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002588	- Galactosemia [MIM:230400]	SWISS	589	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Ser192Asn	VAR_002588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002588	- Galactosemia [MIM:230400]	SWISS	223	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Ser192Asn	VAR_002588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002588	- Galactosemia [MIM:230400]	SWISS	249	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Phe194Leu	VAR_002589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002589	- Galactosemia [MIM:230400]	SWISS	591	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Phe194Leu	VAR_002589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002589	- Galactosemia [MIM:230400]	SWISS	225	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Phe194Leu	VAR_002589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002589	- Galactosemia [MIM:230400]	SWISS	251	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Leu195Pro	VAR_002590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002590	- Galactosemia [MIM:230400]	SWISS	592	pfam01087	22165416,NP_000146
2592	3183522	Disease	p.Leu195Pro	VAR_002590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002590	- Galactosemia [MIM:230400]	SWISS	226	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Leu195Pro	VAR_002590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002590	- Galactosemia [MIM:230400]	SWISS	252	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Ile198Met	VAR_002591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002591	- Galactosemia [MIM:230400]	SWISS	229	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Ile198Met	VAR_002591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002591	- Galactosemia [MIM:230400]	SWISS	255	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Ile198Thr	VAR_002592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002592	- Galactosemia [MIM:230400]	SWISS	229	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Ile198Thr	VAR_002592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002592	- Galactosemia [MIM:230400]	SWISS	255	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Ala199Thr	VAR_002593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002593	- Galactosemia [MIM:230400]	SWISS	230	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Ala199Thr	VAR_002593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002593	- Galactosemia [MIM:230400]	SWISS	256	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg201His	VAR_002594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002594	- Galactosemia [MIM:230400]	SWISS	232	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg201His	VAR_002594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002594	- Galactosemia [MIM:230400]	SWISS	258	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Glu203Lys	VAR_002595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002595	- Galactosemia [MIM:230400]	SWISS	10	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Glu203Lys	VAR_002595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002595	- Galactosemia [MIM:230400]	SWISS	234	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Glu203Lys	VAR_002595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002595	- Galactosemia [MIM:230400]	SWISS	260	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg204Pro	VAR_008045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008045	- Galactosemia [MIM:230400]	SWISS	11	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Arg204Pro	VAR_008045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008045	- Galactosemia [MIM:230400]	SWISS	235	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg204Pro	VAR_008045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008045	- Galactosemia [MIM:230400]	SWISS	261	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Tyr209Cys	VAR_002596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002596	- Galactosemia [MIM:230400]	SWISS	16	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Tyr209Cys	VAR_002596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002596	- Galactosemia [MIM:230400]	SWISS	240	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Tyr209Cys	VAR_002596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002596	- Galactosemia [MIM:230400]	SWISS	266	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Tyr209Ser	VAR_002597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002597	- Galactosemia [MIM:230400]	SWISS	16	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Tyr209Ser	VAR_002597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002597	- Galactosemia [MIM:230400]	SWISS	240	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Tyr209Ser	VAR_002597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002597	- Galactosemia [MIM:230400]	SWISS	266	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Gln212His	VAR_002598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002598	- Galactosemia [MIM:230400]	SWISS	19	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Gln212His	VAR_002598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002598	- Galactosemia [MIM:230400]	SWISS	243	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Gln212His	VAR_002598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002598	- Galactosemia [MIM:230400]	SWISS	269	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Leu217Pro	VAR_002599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002599	- Galactosemia [MIM:230400]	SWISS	32	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Leu217Pro	VAR_002599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002599	- Galactosemia [MIM:230400]	SWISS	252	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Leu217Pro	VAR_002599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002599	- Galactosemia [MIM:230400]	SWISS	274	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Leu226Pro	VAR_002600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002600	- Galactosemia [MIM:230400]	SWISS	48	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Leu226Pro	VAR_002600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002600	- Galactosemia [MIM:230400]	SWISS	261	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Leu226Pro	VAR_002600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002600	- Galactosemia [MIM:230400]	SWISS	283	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Lys229Asn	VAR_023330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023330	- Galactosemia [MIM:230400]	SWISS	51	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Lys229Asn	VAR_023330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023330	- Galactosemia [MIM:230400]	SWISS	278	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Lys229Asn	VAR_023330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023330	- Galactosemia [MIM:230400]	SWISS	286	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg231His	VAR_002601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002601	- Galactosemia [MIM:230400]	SWISS	53	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Arg231His	VAR_002601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002601	- Galactosemia [MIM:230400]	SWISS	280	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg231His	VAR_002601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002601	- Galactosemia [MIM:230400]	SWISS	288	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Trp249Arg	VAR_002602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002602	- Galactosemia [MIM:230400]	SWISS	72	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Trp249Arg	VAR_002602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002602	- Galactosemia [MIM:230400]	SWISS	298	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Trp249Arg	VAR_002602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002602	- Galactosemia [MIM:230400]	SWISS	306	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Tyr251Cys	VAR_002603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002603	- Galactosemia [MIM:230400]	SWISS	74	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Tyr251Cys	VAR_002603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002603	- Galactosemia [MIM:230400]	SWISS	300	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Tyr251Cys	VAR_002603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002603	- Galactosemia [MIM:230400]	SWISS	308	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Tyr251Ser	VAR_002604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002604	- Galactosemia [MIM:230400]	SWISS	74	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Tyr251Ser	VAR_002604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002604	- Galactosemia [MIM:230400]	SWISS	300	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Tyr251Ser	VAR_002604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002604	- Galactosemia [MIM:230400]	SWISS	308	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Gln252His	VAR_023331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023331	- Galactosemia [MIM:230400]	SWISS	75	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Gln252His	VAR_023331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023331	- Galactosemia [MIM:230400]	SWISS	301	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Gln252His	VAR_023331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023331	- Galactosemia [MIM:230400]	SWISS	309	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg258Cys	VAR_002605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002605	- Galactosemia [MIM:230400]	SWISS	82	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Arg258Cys	VAR_002605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002605	- Galactosemia [MIM:230400]	SWISS	307	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg258Cys	VAR_002605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002605	- Galactosemia [MIM:230400]	SWISS	315	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg259Trp	VAR_002606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002606	- Galactosemia [MIM:230400]	SWISS	83	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Arg259Trp	VAR_002606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002606	- Galactosemia [MIM:230400]	SWISS	308	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg259Trp	VAR_002606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002606	- Galactosemia [MIM:230400]	SWISS	316	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg262Pro	VAR_002607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002607	- Galactosemia [MIM:230400]	SWISS	86	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Arg262Pro	VAR_002607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002607	- Galactosemia [MIM:230400]	SWISS	311	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg262Pro	VAR_002607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002607	- Galactosemia [MIM:230400]	SWISS	319	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg272Gly	VAR_008047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008047	- Galactosemia [MIM:230400]	SWISS	106	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Arg272Gly	VAR_008047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008047	- Galactosemia [MIM:230400]	SWISS	321	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg272Gly	VAR_008047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008047	- Galactosemia [MIM:230400]	SWISS	329	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Leu282Val	VAR_002608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002608	- Galactosemia [MIM:230400]	SWISS	124	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Leu282Val	VAR_002608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002608	- Galactosemia [MIM:230400]	SWISS	331	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Leu282Val	VAR_002608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002608	- Galactosemia [MIM:230400]	SWISS	339	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Lys285Asn	VAR_002609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002609	- Galactosemia [MIM:230400]	SWISS	127	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Lys285Asn	VAR_002609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002609	- Galactosemia [MIM:230400]	SWISS	336	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Lys285Asn	VAR_002609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002609	- Galactosemia [MIM:230400]	SWISS	342	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Leu289Arg	VAR_002610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002610	- Galactosemia [MIM:230400]	SWISS	131	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Leu289Arg	VAR_002610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002610	- Galactosemia [MIM:230400]	SWISS	340	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Leu289Arg	VAR_002610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002610	- Galactosemia [MIM:230400]	SWISS	346	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Glu291Lys	VAR_002611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002611	- Galactosemia [MIM:230400]	SWISS	133	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Glu291Lys	VAR_002611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002611	- Galactosemia [MIM:230400]	SWISS	342	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Glu291Lys	VAR_002611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002611	- Galactosemia [MIM:230400]	SWISS	348	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Phe294Tyr	VAR_008048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008048	- Galactosemia [MIM:230400]	SWISS	145	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Phe294Tyr	VAR_008048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008048	- Galactosemia [MIM:230400]	SWISS	351	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Phe294Tyr	VAR_008048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008048	- Galactosemia [MIM:230400]	SWISS	351	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Glu308Lys	VAR_002612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002612	- Galactosemia [MIM:230400]	SWISS	159	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Glu308Lys	VAR_002612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002612	- Galactosemia [MIM:230400]	SWISS	365	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Glu308Lys	VAR_002612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002612	- Galactosemia [MIM:230400]	SWISS	364	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Gln317His	VAR_002614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002614	- Galactosemia [MIM:230400]	SWISS	168	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Gln317His	VAR_002614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002614	- Galactosemia [MIM:230400]	SWISS	381	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Gln317His	VAR_002614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002614	- Galactosemia [MIM:230400]	SWISS	373	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Gln317Arg	VAR_002615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002615	- Galactosemia [MIM:230400]	SWISS	168	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Gln317Arg	VAR_002615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002615	- Galactosemia [MIM:230400]	SWISS	381	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Gln317Arg	VAR_002615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002615	- Galactosemia [MIM:230400]	SWISS	373	COG1085	22165416,NP_000146
2592	3183522	Disease	p.His319Gln	VAR_002616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002616	- Galactosemia [MIM:230400]	SWISS	170	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.His319Gln	VAR_002616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002616	- Galactosemia [MIM:230400]	SWISS	383	cd00608	22165416,NP_000146
2592	3183522	Disease	p.His319Gln	VAR_002616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002616	- Galactosemia [MIM:230400]	SWISS	375	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Ala320Thr	VAR_002617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002617	- Galactosemia [MIM:230400]	SWISS	171	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Ala320Thr	VAR_002617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002617	- Galactosemia [MIM:230400]	SWISS	384	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Ala320Thr	VAR_002617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002617	- Galactosemia [MIM:230400]	SWISS	376	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Tyr323Asp	VAR_002618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002618	- Galactosemia [MIM:230400]	SWISS	174	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Tyr323Asp	VAR_002618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002618	- Galactosemia [MIM:230400]	SWISS	387	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Tyr323Asp	VAR_002618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002618	- Galactosemia [MIM:230400]	SWISS	379	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Tyr323His	VAR_002619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002619	- Galactosemia [MIM:230400]	SWISS	174	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Tyr323His	VAR_002619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002619	- Galactosemia [MIM:230400]	SWISS	387	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Tyr323His	VAR_002619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002619	- Galactosemia [MIM:230400]	SWISS	379	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Pro324Ser	VAR_002620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002620	- Galactosemia [MIM:230400]	SWISS	175	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Pro324Ser	VAR_002620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002620	- Galactosemia [MIM:230400]	SWISS	388	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Pro324Ser	VAR_002620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002620	- Galactosemia [MIM:230400]	SWISS	380	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Pro325Leu	VAR_002621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002621	- Galactosemia [MIM:230400]	SWISS	176	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Pro325Leu	VAR_002621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002621	- Galactosemia [MIM:230400]	SWISS	389	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Pro325Leu	VAR_002621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002621	- Galactosemia [MIM:230400]	SWISS	381	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg328His	VAR_002622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002622	- Galactosemia [MIM:230400]	SWISS	179	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Arg328His	VAR_002622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002622	- Galactosemia [MIM:230400]	SWISS	392	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg328His	VAR_002622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002622	- Galactosemia [MIM:230400]	SWISS	386	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Ser329Phe	VAR_002623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002623	- Galactosemia [MIM:230400]	SWISS	180	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Ser329Phe	VAR_002623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002623	- Galactosemia [MIM:230400]	SWISS	393	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Ser329Phe	VAR_002623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002623	- Galactosemia [MIM:230400]	SWISS	387	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Ala330Val	VAR_002624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002624	- Galactosemia [MIM:230400]	SWISS	181	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Ala330Val	VAR_002624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002624	- Galactosemia [MIM:230400]	SWISS	405	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Ala330Val	VAR_002624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002624	- Galactosemia [MIM:230400]	SWISS	388	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg333Gly	VAR_002625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002625	- Galactosemia [MIM:230400]	SWISS	184	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Arg333Gly	VAR_002625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002625	- Galactosemia [MIM:230400]	SWISS	408	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg333Gly	VAR_002625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002625	- Galactosemia [MIM:230400]	SWISS	391	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg333Gln	VAR_002626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002626	- Galactosemia [MIM:230400]	SWISS	184	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Arg333Gln	VAR_002626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002626	- Galactosemia [MIM:230400]	SWISS	408	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg333Gln	VAR_002626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002626	- Galactosemia [MIM:230400]	SWISS	391	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Arg333Trp	VAR_002627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002627	- Galactosemia [MIM:230400]	SWISS	184	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Arg333Trp	VAR_002627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002627	- Galactosemia [MIM:230400]	SWISS	408	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Arg333Trp	VAR_002627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002627	- Galactosemia [MIM:230400]	SWISS	391	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Lys334Arg	VAR_002628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002628	- Galactosemia [MIM:230400]	SWISS	185	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Lys334Arg	VAR_002628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002628	- Galactosemia [MIM:230400]	SWISS	409	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Lys334Arg	VAR_002628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002628	- Galactosemia [MIM:230400]	SWISS	392	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Met336Leu	VAR_002629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002629	- Galactosemia [MIM:230400]	SWISS	187	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Met336Leu	VAR_002629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002629	- Galactosemia [MIM:230400]	SWISS	411	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Met336Leu	VAR_002629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002629	- Galactosemia [MIM:230400]	SWISS	394	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Gln344Lys	VAR_002630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002630	- Galactosemia [MIM:230400]	SWISS	196	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Gln344Lys	VAR_002630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002630	- Galactosemia [MIM:230400]	SWISS	420	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Gln344Lys	VAR_002630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002630	- Galactosemia [MIM:230400]	SWISS	403	COG1085	22165416,NP_000146
2592	3183522	Disease	p.Thr350Ala	VAR_002631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002631	- Galactosemia [MIM:230400]	SWISS	202	pfam02744	22165416,NP_000146
2592	3183522	Disease	p.Thr350Ala	VAR_002631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002631	- Galactosemia [MIM:230400]	SWISS	426	cd00608	22165416,NP_000146
2592	3183522	Disease	p.Thr350Ala	VAR_002631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002631	- Galactosemia [MIM:230400]	SWISS	409	COG1085	22165416,NP_000146
2593	2498404	Disease	p.Trp20Ser	VAR_058102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058102	- Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]	SWISS	No Domain	N/A	4503909,NP_000147
2593	2498404	Disease	p.Met50Leu	VAR_058103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058103	- Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]	SWISS	No Domain	N/A	4503909,NP_000147
2593	2498404	Disease	p.His51Pro	VAR_058104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058104	- Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]	SWISS	No Domain	N/A	4503909,NP_000147
2593	2498404	Disease	p.Ala54Pro	VAR_058105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058105	- Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]	SWISS	No Domain	N/A	4503909,NP_000147
2593	2498404	Disease	p.Cys169Tyr	VAR_058106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058106	- Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]	SWISS	349	cd02440	4503909,NP_000147
2593	2498404	Disease	p.Leu197Pro	VAR_058107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058107	- Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]	SWISS	377	cd02440	4503909,NP_000147
8139	13626745	Disease	p.Arg15Ser	VAR_010759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010759	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	No Domain	N/A	11545731,NP_071324
8139	13626745	Disease	p.Ala51Pro	VAR_054113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054113	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	50	smart00225	11545731,NP_071324
8139	13626745	Disease	p.Ala51Pro	VAR_054113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054113	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	49	pfam00651	11545731,NP_071324
8139	13626745	Disease	p.Ser52Gly	VAR_010760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010760	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	74	smart00225	11545731,NP_071324
8139	13626745	Disease	p.Ser52Gly	VAR_010760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010760	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	50	pfam00651	11545731,NP_071324
8139	13626745	Disease	p.Ser79Leu	VAR_010761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010761	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	212	smart00225	11545731,NP_071324
8139	13626745	Disease	p.Ser79Leu	VAR_010761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010761	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	91	pfam00651	11545731,NP_071324
8139	13626745	Disease	p.Val82Phe	VAR_010762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010762	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	215	smart00225	11545731,NP_071324
8139	13626745	Disease	p.Val82Phe	VAR_010762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010762	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	96	pfam00651	11545731,NP_071324
8139	13626745	Disease	p.Ile86Phe	VAR_015680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015680	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	219	smart00225	11545731,NP_071324
8139	13626745	Disease	p.Ile86Phe	VAR_015680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015680	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	100	pfam00651	11545731,NP_071324
8139	13626745	Disease	p.Tyr89Cys	VAR_054114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054114	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	222	smart00225	11545731,NP_071324
8139	13626745	Disease	p.Tyr89Cys	VAR_054114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054114	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	103	pfam00651	11545731,NP_071324
8139	13626745	Disease	p.Arg138His	VAR_010763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010763	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	5	pfam07707	11545731,NP_071324
8139	13626745	Disease	p.Arg138His	VAR_010763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010763	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	5	smart00875	11545731,NP_071324
8139	13626745	Disease	p.Val195Phe	VAR_054115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054115	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	65	pfam07707	11545731,NP_071324
8139	13626745	Disease	p.Val195Phe	VAR_054115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054115	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	218	smart00875	11545731,NP_071324
8139	13626745	Disease	p.Arg269Gln	VAR_010764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010764	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	No Domain	N/A	11545731,NP_071324
8139	13626745	Disease	p.Leu309Arg	VAR_010765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010765	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	No Domain	N/A	11545731,NP_071324
8139	13626745	Disease	p.Pro315Leu	VAR_054116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054116	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	No Domain	N/A	11545731,NP_071324
8139	13626745	Disease	p.Gly368Arg	VAR_015681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015681	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	56	smart00612	11545731,NP_071324
8139	13626745	Disease	p.Gly368Arg	VAR_015681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015681	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	6	pfam01344	11545731,NP_071324
8139	13626745	Disease	p.Ile423Thr	VAR_015560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015560	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	2	smart00612	11545731,NP_071324
8139	13626745	Disease	p.Ile423Thr	VAR_015560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015560	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	14	pfam01344	11545731,NP_071324
8139	13626745	Disease	p.Gly474Arg	VAR_054117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054117	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	No Domain	N/A	11545731,NP_071324
8139	13626745	Disease	p.Glu486Lys	VAR_010757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010757	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	No Domain	N/A	11545731,NP_071324
8139	13626745	Disease	p.Arg545Cys	VAR_010766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010766	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	No Domain	N/A	11545731,NP_071324
8139	13626745	Disease	p.Arg545His	VAR_054118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054118	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	No Domain	N/A	11545731,NP_071324
8139	13626745	Disease	p.Cys570Tyr	VAR_010767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010767	- Giant axonal neuropathy (GAN) [MIM:256850]	SWISS	No Domain	N/A	11545731,NP_071324
2617	21264523	Disease	p.Glu125Gly	VAR_018718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018718	rs28936972 Charcot-Marie-Tooth disease type 2D (CMT2D) [MIM:601472]	SWISS	2	cd00774	NULL
2617	21264523	Disease	p.Glu125Gly	VAR_018718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018718	rs28936972 Charcot-Marie-Tooth disease type 2D (CMT2D) [MIM:601472]	SWISS	10	COG0423	NULL
2617	21264523	Disease	p.Leu183Pro	VAR_018719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018719	- Distal spinal muscular neuropathy type 5 (HMN5) [MIM:600794]	SWISS	77	cd00774	NULL
2617	21264523	Disease	p.Leu183Pro	VAR_018719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018719	- Distal spinal muscular neuropathy type 5 (HMN5) [MIM:600794]	SWISS	70	COG0423	NULL
2617	21264523	Disease	p.Leu183Pro	VAR_018719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018719	- Distal spinal muscular neuropathy type 5 (HMN5) [MIM:600794]	SWISS	29	pfam00587	NULL
2617	21264523	Disease	p.Gly294Arg	VAR_018720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018720	- Charcot-Marie-Tooth disease type 2D (CMT2D) [MIM:601472]	SWISS	243	cd00774	NULL
2617	21264523	Disease	p.Gly294Arg	VAR_018720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018720	- Charcot-Marie-Tooth disease type 2D (CMT2D) [MIM:601472]	SWISS	120	cd00670	NULL
2617	21264523	Disease	p.Gly294Arg	VAR_018720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018720	- Charcot-Marie-Tooth disease type 2D (CMT2D) [MIM:601472]	SWISS	218	COG0423	NULL
2617	21264523	Disease	p.Gly294Arg	VAR_018720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018720	- Charcot-Marie-Tooth disease type 2D (CMT2D) [MIM:601472]	SWISS	197	pfam00587	NULL
2617	21264523	Disease	p.Gly294Arg	VAR_018720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018720	- Charcot-Marie-Tooth disease type 2D (CMT2D) [MIM:601472]	SWISS	78	cd00768	NULL
2617	21264523	Disease	p.Gly580Arg	VAR_018721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018721	rs28937323 Distal spinal muscular neuropathy type 5 (HMN5) [MIM:600794]	SWISS	519	COG0423	NULL
2617	21264523	Disease	p.Gly580Arg	VAR_018721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018721	rs28937323 Distal spinal muscular neuropathy type 5 (HMN5) [MIM:600794]	SWISS	721	cd00768	NULL
2623	120956	Disease	p.Val205Met	VAR_010115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010115	- X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]	SWISS	3	cd00202	4503925,NP_002040
2623	120956	Disease	p.Val205Met	VAR_010115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010115	- X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]	SWISS	2	pfam00320	4503925,NP_002040
2623	120956	Disease	p.Val205Met	VAR_010115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010115	- X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]	SWISS	7	smart00401	4503925,NP_002040
2623	120956	Disease	p.Gly208Ser	VAR_012706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012706	- X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]	SWISS	8	cd00202	4503925,NP_002040
2623	120956	Disease	p.Gly208Ser	VAR_012706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012706	- X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]	SWISS	7	pfam00320	4503925,NP_002040
2623	120956	Disease	p.Gly208Ser	VAR_012706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012706	- X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]	SWISS	12	smart00401	4503925,NP_002040
2623	120956	Disease	p.Arg216Gln	VAR_033114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033114	- X-linked thrombocytopenia with beta-thalassemia (XLTT) [MIM:314050]	SWISS	18	cd00202	4503925,NP_002040
2623	120956	Disease	p.Arg216Gln	VAR_033114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033114	- X-linked thrombocytopenia with beta-thalassemia (XLTT) [MIM:314050]	SWISS	17	pfam00320	4503925,NP_002040
2623	120956	Disease	p.Arg216Gln	VAR_033114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033114	- X-linked thrombocytopenia with beta-thalassemia (XLTT) [MIM:314050]	SWISS	21	smart00401	4503925,NP_002040
2623	120956	Disease	p.Asp218Gly	VAR_012707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012707	- X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]	SWISS	20	cd00202	4503925,NP_002040
2623	120956	Disease	p.Asp218Gly	VAR_012707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012707	- X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]	SWISS	19	pfam00320	4503925,NP_002040
2623	120956	Disease	p.Asp218Gly	VAR_012707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012707	- X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]	SWISS	23	smart00401	4503925,NP_002040
2623	120956	Disease	p.Asp218Tyr	VAR_033115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033115	- X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]	SWISS	20	cd00202	4503925,NP_002040
2623	120956	Disease	p.Asp218Tyr	VAR_033115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033115	- X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]	SWISS	19	pfam00320	4503925,NP_002040
2623	120956	Disease	p.Asp218Tyr	VAR_033115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033115	- X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]	SWISS	23	smart00401	4503925,NP_002040
2625	120962	Disease	p.Trp274Arg	VAR_017818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017818	- Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR) [MIM:146255]	SWISS	16	pfam00320	4503929,NP_002042
2625	120962	Disease	p.Trp274Arg	VAR_017818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017818	- Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR) [MIM:146255]	SWISS	17	cd00202	4503929,NP_002042
2625	120962	Disease	p.Trp274Arg	VAR_017818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017818	- Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR) [MIM:146255]	SWISS	20	smart00401	4503929,NP_002042
2626	215274105	Disease	p.Ser52Phe	VAR_038195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038195	- Atrial septal defect type 2 (ASD2) [MIM:607941]	SWISS	66	pfam05349	33188461,NP_002043
2626	215274105	Disease	p.Gly296Ser	VAR_016204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016204	- Atrial septal defect type 2 (ASD2) [MIM:607941]	SWISS	35	pfam00320	33188461,NP_002043
2626	215274105	Disease	p.Gly296Ser	VAR_016204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016204	- Atrial septal defect type 2 (ASD2) [MIM:607941]	SWISS	37	smart00401	33188461,NP_002043
2626	215274105	Disease	p.Gly296Ser	VAR_016204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016204	- Atrial septal defect type 2 (ASD2) [MIM:607941]	SWISS	34	cd00202	33188461,NP_002043
2629	55584151	Disease	p.Val54Leu	VAR_003255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003255	- Gaucher disease (GD) [MIM:230800]	SWISS	15	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Cys55Ser	VAR_032394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032394	- Gaucher disease (GD) [MIM:230800]	SWISS	16	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp63Asn	VAR_032395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032395	- Gaucher disease (GD) [MIM:230800]	SWISS	24	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe76Val	VAR_003256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003256	- Gaucher disease (GD) [MIM:230800]	SWISS	16	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe76Val	VAR_003256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003256	- Gaucher disease (GD) [MIM:230800]	SWISS	37	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Glu80Lys	VAR_009033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009033	rs1141808 Gaucher disease (GD) [MIM:230800]	SWISS	28	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Glu80Lys	VAR_009033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009033	rs1141808 Gaucher disease (GD) [MIM:230800]	SWISS	41	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Thr82Ile	VAR_003257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003257	- Gaucher disease (GD) [MIM:230800]	SWISS	30	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Thr82Ile	VAR_003257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003257	- Gaucher disease (GD) [MIM:230800]	SWISS	43	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly85Glu	VAR_003258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003258	- Gaucher disease (GD) [MIM:230800]	SWISS	32	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly85Glu	VAR_003258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003258	- Gaucher disease (GD) [MIM:230800]	SWISS	46	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg87Gln	VAR_032197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032197	- Gaucher disease (GD) [MIM:230800]	SWISS	34	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg87Gln	VAR_032197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032197	- Gaucher disease (GD) [MIM:230800]	SWISS	48	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg87Trp	VAR_003259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003259	rs1141814 Gaucher disease (GD) [MIM:230800]	SWISS	34	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg87Trp	VAR_003259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003259	rs1141814 Gaucher disease (GD) [MIM:230800]	SWISS	48	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Lys118Asn	VAR_003260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003260	- Gaucher disease (GD) [MIM:230800]	SWISS	70	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Lys118Asn	VAR_003260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003260	- Gaucher disease (GD) [MIM:230800]	SWISS	79	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala129Thr	VAR_032397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032397	- Gaucher disease (GD) [MIM:230800]	SWISS	82	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala129Thr	VAR_032397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032397	- Gaucher disease (GD) [MIM:230800]	SWISS	90	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ser146Leu	VAR_009034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009034	- Gaucher disease (GD) [MIM:230800]	SWISS	99	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ser146Leu	VAR_009034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009034	- Gaucher disease (GD) [MIM:230800]	SWISS	107	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly152Glu	VAR_003261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003261	- Gaucher disease (GD) [MIM:230800]	SWISS	107	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly152Glu	VAR_003261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003261	- Gaucher disease (GD) [MIM:230800]	SWISS	113	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn156Asp	VAR_032398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032398	- Gaucher disease (GD) [MIM:230800]	SWISS	111	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn156Asp	VAR_032398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032398	- Gaucher disease (GD) [MIM:230800]	SWISS	117	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ile158Ser	VAR_032399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032399	- Gaucher disease (GD) [MIM:230800]	SWISS	113	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ile158Ser	VAR_032399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032399	- Gaucher disease (GD) [MIM:230800]	SWISS	119	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ile158Thr	VAR_003262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003262	- Gaucher disease (GD) [MIM:230800]	SWISS	113	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ile158Thr	VAR_003262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003262	- Gaucher disease (GD) [MIM:230800]	SWISS	119	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg159Gln	VAR_003263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003263	- Gaucher disease (GD) [MIM:230800]	SWISS	114	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg159Gln	VAR_003263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003263	- Gaucher disease (GD) [MIM:230800]	SWISS	120	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg159Trp	VAR_003264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003264	- Gaucher disease (GD) [MIM:230800]	SWISS	114	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg159Trp	VAR_003264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003264	- Gaucher disease (GD) [MIM:230800]	SWISS	120	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro161Leu	VAR_032198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032198	- Gaucher disease (GD) [MIM:230800]	SWISS	116	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro161Leu	VAR_032198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032198	- Gaucher disease (GD) [MIM:230800]	SWISS	122	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro161Ser	VAR_003265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003265	- Gaucher disease (GD) [MIM:230800]	SWISS	116	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro161Ser	VAR_003265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003265	- Gaucher disease (GD) [MIM:230800]	SWISS	122	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Met162Val	VAR_032199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032199	- Gaucher disease (GD) [MIM:230800]	SWISS	117	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Met162Val	VAR_032199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032199	- Gaucher disease (GD) [MIM:230800]	SWISS	123	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp166Val	VAR_032200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032200	- Gaucher disease (GD) [MIM:230800]	SWISS	121	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp166Val	VAR_032200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032200	- Gaucher disease (GD) [MIM:230800]	SWISS	127	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg170Cys	VAR_009035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009035	- Gaucher disease (GD) [MIM:230800]	SWISS	125	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg170Cys	VAR_009035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009035	- Gaucher disease (GD) [MIM:230800]	SWISS	131	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg170Leu	VAR_009036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009036	- Gaucher disease (GD) [MIM:230800]	SWISS	125	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg170Leu	VAR_009036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009036	- Gaucher disease (GD) [MIM:230800]	SWISS	131	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Thr173Ile	VAR_032400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032400	- Gaucher disease (GD) [MIM:230800]	SWISS	128	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Thr173Ile	VAR_032400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032400	- Gaucher disease (GD) [MIM:230800]	SWISS	134	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Thr173Pro	VAR_003266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003266	- Gaucher disease (GD) [MIM:230800]	SWISS	128	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Thr173Pro	VAR_003266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003266	- Gaucher disease (GD) [MIM:230800]	SWISS	134	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala175Glu	VAR_032401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032401	- Gaucher disease (GD) [MIM:230800]	SWISS	130	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala175Glu	VAR_032401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032401	- Gaucher disease (GD) [MIM:230800]	SWISS	136	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp179His	VAR_003267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003267	- Gaucher disease (GD) [MIM:230800]	SWISS	134	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp179His	VAR_003267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003267	- Gaucher disease (GD) [MIM:230800]	SWISS	140	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Lys196Gln	VAR_003268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003268	- Gaucher disease (GD) [MIM:230800]	SWISS	153_G	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Lys196Gln	VAR_003268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003268	- Gaucher disease (GD) [MIM:230800]	SWISS	157	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro198Leu	VAR_009037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009037	- Gaucher disease (GD) [MIM:230800]	SWISS	155	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro198Leu	VAR_009037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009037	- Gaucher disease (GD) [MIM:230800]	SWISS	159	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro198Thr	VAR_032402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032402	- Gaucher disease (GD) [MIM:230800]	SWISS	155	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro198Thr	VAR_032402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032402	- Gaucher disease (GD) [MIM:230800]	SWISS	159	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ile200Asn	VAR_032201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032201	- Gaucher disease (GD) [MIM:230800]	SWISS	157	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ile200Asn	VAR_032201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032201	- Gaucher disease (GD) [MIM:230800]	SWISS	161	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ile200Ser	VAR_010059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010059	- Gaucher disease (GD) [MIM:230800]	SWISS	157	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ile200Ser	VAR_010059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010059	- Gaucher disease (GD) [MIM:230800]	SWISS	161	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.His201Pro	VAR_032403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032403	- Gaucher disease (GD) [MIM:230800]	SWISS	158	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.His201Pro	VAR_032403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032403	- Gaucher disease (GD) [MIM:230800]	SWISS	162	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg209Cys	VAR_032404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032404	- Gaucher disease (GD) [MIM:230800]	SWISS	165	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg209Cys	VAR_032404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032404	- Gaucher disease (GD) [MIM:230800]	SWISS	170	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg209Pro	VAR_003269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003269	- Gaucher disease (GD) [MIM:230800]	SWISS	165	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg209Pro	VAR_003269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003269	- Gaucher disease (GD) [MIM:230800]	SWISS	170	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu213Phe	VAR_032202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032202	- Gaucher disease (GD) [MIM:230800]	SWISS	169	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu213Phe	VAR_032202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032202	- Gaucher disease (GD) [MIM:230800]	SWISS	174	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala215Asp	VAR_003270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003270	- Gaucher disease (GD) [MIM:230800]	SWISS	171	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala215Asp	VAR_003270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003270	- Gaucher disease (GD) [MIM:230800]	SWISS	176	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro217Ser	VAR_003271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003271	- Gaucher disease (GD) [MIM:230800]	SWISS	173	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro217Ser	VAR_003271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003271	- Gaucher disease (GD) [MIM:230800]	SWISS	178	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro221Leu	VAR_032405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032405	- Gaucher disease (GD) [MIM:230800]	SWISS	177	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro221Leu	VAR_032405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032405	- Gaucher disease (GD) [MIM:230800]	SWISS	182	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro221Thr	VAR_003272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003272	- Gaucher disease (GD) [MIM:230800]	SWISS	177	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro221Thr	VAR_003272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003272	- Gaucher disease (GD) [MIM:230800]	SWISS	182	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Trp223Arg	VAR_003273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003273	- Gaucher disease (GD) [MIM:230800]	SWISS	179	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Trp223Arg	VAR_003273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003273	- Gaucher disease (GD) [MIM:230800]	SWISS	184	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu224Phe	VAR_032203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032203	- Gaucher disease (GD) [MIM:230800]	SWISS	180	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu224Phe	VAR_032203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032203	- Gaucher disease (GD) [MIM:230800]	SWISS	185	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn227Lys	VAR_003275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003275	rs381418 Gaucher disease (GD) [MIM:230800]	SWISS	183	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn227Lys	VAR_003275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003275	rs381418 Gaucher disease (GD) [MIM:230800]	SWISS	188	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn227Ser	VAR_003274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003274	rs364897 Gaucher disease (GD) [MIM:230800]	SWISS	183	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn227Ser	VAR_003274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003274	rs364897 Gaucher disease (GD) [MIM:230800]	SWISS	188	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly228Val	VAR_010060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010060	- Gaucher disease (GD) [MIM:230800]	SWISS	184	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly228Val	VAR_010060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010060	- Gaucher disease (GD) [MIM:230800]	SWISS	189	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala229Glu	VAR_009038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009038	- Gaucher disease (GD) [MIM:230800]	SWISS	185	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala229Glu	VAR_009038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009038	- Gaucher disease (GD) [MIM:230800]	SWISS	190	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala229Thr	VAR_032406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032406	- Gaucher disease (GD) [MIM:230800]	SWISS	185	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala229Thr	VAR_032406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032406	- Gaucher disease (GD) [MIM:230800]	SWISS	190	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val230Glu	VAR_032407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032407	- Gaucher disease (GD) [MIM:230800]	SWISS	186	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val230Glu	VAR_032407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032407	- Gaucher disease (GD) [MIM:230800]	SWISS	191	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val230Gly	VAR_003276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003276	rs381427 Gaucher disease (GD) [MIM:230800]	SWISS	186	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val230Gly	VAR_003276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003276	rs381427 Gaucher disease (GD) [MIM:230800]	SWISS	191	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly232Glu	VAR_032204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032204	- Gaucher disease (GD) [MIM:230800]	SWISS	188	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly232Glu	VAR_032204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032204	- Gaucher disease (GD) [MIM:230800]	SWISS	193	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly234Glu	VAR_003277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003277	- Gaucher disease (GD) [MIM:230800]	SWISS	193	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly234Glu	VAR_003277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003277	- Gaucher disease (GD) [MIM:230800]	SWISS	195	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly234Trp	VAR_009039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009039	- Gaucher disease (GD) [MIM:230800]	SWISS	193	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly234Trp	VAR_009039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009039	- Gaucher disease (GD) [MIM:230800]	SWISS	195	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ser235Pro	VAR_003278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003278	rs1064644 Gaucher disease (GD) [MIM:230800]	SWISS	194	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ser235Pro	VAR_003278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003278	rs1064644 Gaucher disease (GD) [MIM:230800]	SWISS	196	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Lys237Glu	VAR_032205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032205	- Gaucher disease (GD) [MIM:230800]	SWISS	196	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Lys237Glu	VAR_032205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032205	- Gaucher disease (GD) [MIM:230800]	SWISS	198	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly241Glu	VAR_010061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010061	- Gaucher disease (GD) [MIM:230800]	SWISS	197	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly241Glu	VAR_010061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010061	- Gaucher disease (GD) [MIM:230800]	SWISS	202	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly241Arg	VAR_003279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003279	- Gaucher disease (GD) [MIM:230800]	SWISS	197	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly241Arg	VAR_003279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003279	- Gaucher disease (GD) [MIM:230800]	SWISS	202	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr244Cys	VAR_010062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010062	- Gaucher disease (GD) [MIM:230800]	SWISS	200	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr244Cys	VAR_010062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010062	- Gaucher disease (GD) [MIM:230800]	SWISS	205	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr251His	VAR_003280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003280	- Gaucher disease (GD) [MIM:230800]	SWISS	206	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr251His	VAR_003280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003280	- Gaucher disease (GD) [MIM:230800]	SWISS	212	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe252Ile	VAR_003281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003281	rs381737 Gaucher disease (GD) [MIM:230800]	SWISS	207	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe252Ile	VAR_003281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003281	rs381737 Gaucher disease (GD) [MIM:230800]	SWISS	213	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe255Tyr	VAR_003282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003282	- Gaucher disease (GD) [MIM:230800]	SWISS	210	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe255Tyr	VAR_003282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003282	- Gaucher disease (GD) [MIM:230800]	SWISS	216	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Thr270Arg	VAR_032408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032408	- Gaucher disease (GD) [MIM:230800]	SWISS	225	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Thr270Arg	VAR_032408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032408	- Gaucher disease (GD) [MIM:230800]	SWISS	231	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ser276Pro	VAR_003283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003283	- Gaucher disease (GD) [MIM:230800]	SWISS	231	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ser276Pro	VAR_003283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003283	- Gaucher disease (GD) [MIM:230800]	SWISS	237	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe290Leu	VAR_032409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032409	- Gaucher disease (GD) [MIM:230800]	SWISS	242	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe290Leu	VAR_032409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032409	- Gaucher disease (GD) [MIM:230800]	SWISS	251	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.His294Gln	VAR_009040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009040	- Gaucher disease (GD) [MIM:230800]	SWISS	246	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.His294Gln	VAR_009040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009040	- Gaucher disease (GD) [MIM:230800]	SWISS	255	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg296Gln	VAR_003284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003284	- Gaucher disease (GD) [MIM:230800]	SWISS	248	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg296Gln	VAR_003284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003284	- Gaucher disease (GD) [MIM:230800]	SWISS	257	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe298Leu	VAR_009041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009041	- Gaucher disease (GD) [MIM:230800]	SWISS	250	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe298Leu	VAR_009041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009041	- Gaucher disease (GD) [MIM:230800]	SWISS	259	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu303Ile	VAR_032206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032206	- Gaucher disease (GD) [MIM:230800]	SWISS	255	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu303Ile	VAR_032206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032206	- Gaucher disease (GD) [MIM:230800]	SWISS	264	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly304Asp	VAR_010063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010063	- Gaucher disease (GD) [MIM:230800]	SWISS	256	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly304Asp	VAR_010063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010063	- Gaucher disease (GD) [MIM:230800]	SWISS	265	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro305Arg	VAR_003285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003285	- Gaucher disease (GD) [MIM:230800]	SWISS	257	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro305Arg	VAR_003285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003285	- Gaucher disease (GD) [MIM:230800]	SWISS	266	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ser310Asn	VAR_010064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010064	- Gaucher disease (GD) [MIM:230800]	SWISS	262	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ser310Asn	VAR_010064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010064	- Gaucher disease (GD) [MIM:230800]	SWISS	271	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg324Cys	VAR_003286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003286	- Gaucher disease (GD) [MIM:230800]	SWISS	276	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg324Cys	VAR_003286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003286	- Gaucher disease (GD) [MIM:230800]	SWISS	286	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg324His	VAR_009042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009042	- Gaucher disease (GD) [MIM:230800]	SWISS	276	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg324His	VAR_009042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009042	- Gaucher disease (GD) [MIM:230800]	SWISS	286	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro328Leu	VAR_003287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003287	- Gaucher disease (GD) [MIM:230800]	SWISS	280	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro328Leu	VAR_003287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003287	- Gaucher disease (GD) [MIM:230800]	SWISS	290	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Lys342Ile	VAR_003288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003288	- Gaucher disease (GD) [MIM:230800]	SWISS	294	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Lys342Ile	VAR_003288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003288	- Gaucher disease (GD) [MIM:230800]	SWISS	304	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr343Cys	VAR_009043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009043	- Gaucher disease (GD) [MIM:230800]	SWISS	295	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr343Cys	VAR_009043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009043	- Gaucher disease (GD) [MIM:230800]	SWISS	305	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala348Val	VAR_003289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003289	- Gaucher disease (GD) [MIM:230800]	SWISS	300	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala348Val	VAR_003289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003289	- Gaucher disease (GD) [MIM:230800]	SWISS	310	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Trp351Cys	VAR_003290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003290	- Gaucher disease (GD) [MIM:230800]	SWISS	303	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Trp351Cys	VAR_003290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003290	- Gaucher disease (GD) [MIM:230800]	SWISS	313	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr352His	VAR_003291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003291	- Gaucher disease (GD) [MIM:230800]	SWISS	304	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr352His	VAR_003291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003291	- Gaucher disease (GD) [MIM:230800]	SWISS	314	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp354His	VAR_003292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003292	- Gaucher disease (GD) [MIM:230800]	SWISS	304_G	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp354His	VAR_003292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003292	- Gaucher disease (GD) [MIM:230800]	SWISS	316	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala357Asp	VAR_003293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003293	- Gaucher disease (GD) [MIM:230800]	SWISS	304_G	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala357Asp	VAR_003293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003293	- Gaucher disease (GD) [MIM:230800]	SWISS	319	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Thr362Ile	VAR_003294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003294	- Gaucher disease (GD) [MIM:230800]	SWISS	304_G	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Thr362Ile	VAR_003294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003294	- Gaucher disease (GD) [MIM:230800]	SWISS	324	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu363Pro	VAR_003295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003295	- Gaucher disease (GD) [MIM:230800]	SWISS	304_G	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu363Pro	VAR_003295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003295	- Gaucher disease (GD) [MIM:230800]	SWISS	325	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly364Arg	VAR_003296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003296	- Gaucher disease (GD) [MIM:230800]	SWISS	305	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly364Arg	VAR_003296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003296	- Gaucher disease (GD) [MIM:230800]	SWISS	326	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Glu365Lys	VAR_003297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003297	rs2230288 Gaucher disease (GD) [MIM:230800]	SWISS	306	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Glu365Lys	VAR_003297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003297	rs2230288 Gaucher disease (GD) [MIM:230800]	SWISS	327	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala380Thr	VAR_009045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009045	- Gaucher disease (GD) [MIM:230800]	SWISS	320	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala380Thr	VAR_009045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009045	- Gaucher disease (GD) [MIM:230800]	SWISS	342	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Cys381Gly	VAR_003298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003298	- Gaucher disease (GD) [MIM:230800]	SWISS	321	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Cys381Gly	VAR_003298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003298	- Gaucher disease (GD) [MIM:230800]	SWISS	343	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Glu388Lys	VAR_032207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032207	- Gaucher disease (GD) [MIM:230800]	SWISS	327	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Glu388Lys	VAR_032207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032207	- Gaucher disease (GD) [MIM:230800]	SWISS	350	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val391Leu	VAR_010065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010065	- Gaucher disease (GD) [MIM:230800]	SWISS	330	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val391Leu	VAR_010065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010065	- Gaucher disease (GD) [MIM:230800]	SWISS	353	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg392Gly	VAR_010066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010066	- Gaucher disease (GD) [MIM:230800]	SWISS	331	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg392Gly	VAR_010066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010066	- Gaucher disease (GD) [MIM:230800]	SWISS	354	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg392Trp	VAR_032208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032208	- Gaucher disease (GD) [MIM:230800]	SWISS	331	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg392Trp	VAR_032208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032208	- Gaucher disease (GD) [MIM:230800]	SWISS	354	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg398Gln	VAR_003299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003299	- Gaucher disease (GD) [MIM:230800]	SWISS	337	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg398Gln	VAR_003299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003299	- Gaucher disease (GD) [MIM:230800]	SWISS	360	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Met400Ile	VAR_032412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032412	- Gaucher disease (GD) [MIM:230800]	SWISS	339	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Met400Ile	VAR_032412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032412	- Gaucher disease (GD) [MIM:230800]	SWISS	362	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr402Cys	VAR_032209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032209	- Gaucher disease (GD) [MIM:230800]	SWISS	350	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr402Cys	VAR_032209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032209	- Gaucher disease (GD) [MIM:230800]	SWISS	364	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ser403Thr	VAR_003300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003300	- Gaucher disease (GD) [MIM:230800]	SWISS	351	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ser403Thr	VAR_003300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003300	- Gaucher disease (GD) [MIM:230800]	SWISS	365	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ser405Gly	VAR_010067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010067	- Gaucher disease (GD) [MIM:230800]	SWISS	353	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ser405Gly	VAR_010067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010067	- Gaucher disease (GD) [MIM:230800]	SWISS	367	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ser405Asn	VAR_009046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009046	- Gaucher disease (GD) [MIM:230800]	SWISS	353	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ser405Asn	VAR_009046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009046	- Gaucher disease (GD) [MIM:230800]	SWISS	367	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Thr408Met	VAR_003301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003301	rs2230289 Gaucher disease (GD) [MIM:230800]	SWISS	356	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Thr408Met	VAR_003301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003301	rs2230289 Gaucher disease (GD) [MIM:230800]	SWISS	370	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn409Ser	VAR_003302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003302	- Gaucher disease (GD) [MIM:230800]	SWISS	357	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn409Ser	VAR_003302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003302	- Gaucher disease (GD) [MIM:230800]	SWISS	371	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu410Val	VAR_032210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032210	- Gaucher disease (GD) [MIM:230800]	SWISS	358	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu410Val	VAR_032210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032210	- Gaucher disease (GD) [MIM:230800]	SWISS	372	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val414Leu	VAR_010068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010068	- Gaucher disease (GD) [MIM:230800]	SWISS	362	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val414Leu	VAR_010068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010068	- Gaucher disease (GD) [MIM:230800]	SWISS	376	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly416Ser	VAR_003303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003303	- Gaucher disease (GD) [MIM:230800]	SWISS	364	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly416Ser	VAR_003303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003303	- Gaucher disease (GD) [MIM:230800]	SWISS	378	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Trp417Gly	VAR_003304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003304	- Gaucher disease (GD) [MIM:230800]	SWISS	365	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Trp417Gly	VAR_003304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003304	- Gaucher disease (GD) [MIM:230800]	SWISS	379	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp419Ala	VAR_003305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003305	- Gaucher disease (GD) [MIM:230800]	SWISS	367	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp419Ala	VAR_003305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003305	- Gaucher disease (GD) [MIM:230800]	SWISS	381	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp419His	VAR_032211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032211	- Gaucher disease (GD) [MIM:230800]	SWISS	367	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp419His	VAR_032211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032211	- Gaucher disease (GD) [MIM:230800]	SWISS	381	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp419Asn	VAR_003306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003306	- Gaucher disease (GD) [MIM:230800]	SWISS	367	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp419Asn	VAR_003306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003306	- Gaucher disease (GD) [MIM:230800]	SWISS	381	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn421Lys	VAR_032212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032212	- Gaucher disease (GD) [MIM:230800]	SWISS	369	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn421Lys	VAR_032212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032212	- Gaucher disease (GD) [MIM:230800]	SWISS	383	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro426Leu	VAR_010069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010069	- Gaucher disease (GD) [MIM:230800]	SWISS	374	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro426Leu	VAR_010069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010069	- Gaucher disease (GD) [MIM:230800]	SWISS	388	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly428Glu	VAR_003307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003307	- Gaucher disease (GD) [MIM:230800]	SWISS	376	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly428Glu	VAR_003307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003307	- Gaucher disease (GD) [MIM:230800]	SWISS	390	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly429Arg	VAR_032213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032213	- Gaucher disease (GD) [MIM:230800]	SWISS	377	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly429Arg	VAR_032213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032213	- Gaucher disease (GD) [MIM:230800]	SWISS	391	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro430Leu	VAR_003308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003308	- Gaucher disease (GD) [MIM:230800]	SWISS	378	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro430Leu	VAR_003308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003308	- Gaucher disease (GD) [MIM:230800]	SWISS	392	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn431Ile	VAR_003309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003309	- Gaucher disease (GD) [MIM:230800]	SWISS	379	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn431Ile	VAR_003309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003309	- Gaucher disease (GD) [MIM:230800]	SWISS	393	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Trp432Arg	VAR_009047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009047	- Gaucher disease (GD) [MIM:230800]	SWISS	380	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Trp432Arg	VAR_009047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009047	- Gaucher disease (GD) [MIM:230800]	SWISS	394	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val433Leu	VAR_003310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003310	- Gaucher disease (GD) [MIM:230800]	SWISS	381	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val433Leu	VAR_003310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003310	- Gaucher disease (GD) [MIM:230800]	SWISS	395	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn435Thr	VAR_003311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003311	- Gaucher disease (GD) [MIM:230800]	SWISS	383	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn435Thr	VAR_003311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003311	- Gaucher disease (GD) [MIM:230800]	SWISS	397	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe436Ser	VAR_032214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032214	- Gaucher disease (GD) [MIM:230800]	SWISS	384	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe436Ser	VAR_032214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032214	- Gaucher disease (GD) [MIM:230800]	SWISS	398	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val437Leu	VAR_010070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010070	- Gaucher disease (GD) [MIM:230800]	SWISS	391	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Val437Leu	VAR_010070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010070	- Gaucher disease (GD) [MIM:230800]	SWISS	399	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp438Asn	VAR_003312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003312	- Gaucher disease (GD) [MIM:230800]	SWISS	392	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp438Asn	VAR_003312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003312	- Gaucher disease (GD) [MIM:230800]	SWISS	400	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp438Tyr	VAR_032413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032413	- Gaucher disease (GD) [MIM:230800]	SWISS	392	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp438Tyr	VAR_032413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032413	- Gaucher disease (GD) [MIM:230800]	SWISS	400	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro440Leu	VAR_010071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010071	- Gaucher disease (GD) [MIM:230800]	SWISS	394	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro440Leu	VAR_010071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010071	- Gaucher disease (GD) [MIM:230800]	SWISS	402	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ile441Phe	VAR_032414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032414	- Gaucher disease (GD) [MIM:230800]	SWISS	395	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ile441Phe	VAR_032414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032414	- Gaucher disease (GD) [MIM:230800]	SWISS	403	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ile441Thr	VAR_010072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010072	- Gaucher disease (GD) [MIM:230800]	SWISS	395	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ile441Thr	VAR_010072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010072	- Gaucher disease (GD) [MIM:230800]	SWISS	403	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp448His	VAR_003313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003313	rs1064651 Gaucher disease (GD) [MIM:230800]	SWISS	402	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp448His	VAR_003313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003313	rs1064651 Gaucher disease (GD) [MIM:230800]	SWISS	410	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp448Val	VAR_003314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003314	- Gaucher disease (GD) [MIM:230800]	SWISS	402	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp448Val	VAR_003314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003314	- Gaucher disease (GD) [MIM:230800]	SWISS	410	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe450Ile	VAR_010073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010073	- Gaucher disease (GD) [MIM:230800]	SWISS	406	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe450Ile	VAR_010073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010073	- Gaucher disease (GD) [MIM:230800]	SWISS	412	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr451His	VAR_003315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003315	- Gaucher disease (GD) [MIM:230800]	SWISS	407	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr451His	VAR_003315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003315	- Gaucher disease (GD) [MIM:230800]	SWISS	413	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Lys452Gln	VAR_010074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010074	- Gaucher disease (GD) [MIM:230800]	SWISS	408	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Lys452Gln	VAR_010074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010074	- Gaucher disease (GD) [MIM:230800]	SWISS	414	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro454Arg	VAR_003316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003316	- Gaucher disease (GD) [MIM:230800]	SWISS	410	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Pro454Arg	VAR_003316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003316	- Gaucher disease (GD) [MIM:230800]	SWISS	416	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Met455Val	VAR_032215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032215	- Gaucher disease (GD) [MIM:230800]	SWISS	411	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Met455Val	VAR_032215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032215	- Gaucher disease (GD) [MIM:230800]	SWISS	417	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe456Val	VAR_003317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003317	- Gaucher disease (GD) [MIM:230800]	SWISS	412	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Phe456Val	VAR_003317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003317	- Gaucher disease (GD) [MIM:230800]	SWISS	418	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr457Cys	VAR_003318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003318	- Gaucher disease (GD) [MIM:230800]	SWISS	413	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Tyr457Cys	VAR_003318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003318	- Gaucher disease (GD) [MIM:230800]	SWISS	419	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly460Asp	VAR_032415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032415	- Gaucher disease (GD) [MIM:230800]	SWISS	416	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly460Asp	VAR_032415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032415	- Gaucher disease (GD) [MIM:230800]	SWISS	422	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Lys464Glu	VAR_003319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003319	- Gaucher disease (GD) [MIM:230800]	SWISS	420	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Lys464Glu	VAR_003319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003319	- Gaucher disease (GD) [MIM:230800]	SWISS	426	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu483Pro	VAR_003321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003321	- Gaucher disease (GD) [MIM:230800]	SWISS	440	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu483Pro	VAR_003321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003321	- Gaucher disease (GD) [MIM:230800]	SWISS	446	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu483Arg	VAR_003320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003320	- Gaucher disease (GD) [MIM:230800]	SWISS	440	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu483Arg	VAR_003320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003320	- Gaucher disease (GD) [MIM:230800]	SWISS	446	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala485Pro	VAR_003322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003322	- Gaucher disease (GD) [MIM:230800]	SWISS	442	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala485Pro	VAR_003322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003322	- Gaucher disease (GD) [MIM:230800]	SWISS	448	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.His490Arg	VAR_032416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032416	- Gaucher disease (GD) [MIM:230800]	SWISS	447	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.His490Arg	VAR_032416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032416	- Gaucher disease (GD) [MIM:230800]	SWISS	453	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala495Pro	VAR_003323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003323	rs368060 Gaucher disease (GD) [MIM:230800]	SWISS	452	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Ala495Pro	VAR_003323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003323	rs368060 Gaucher disease (GD) [MIM:230800]	SWISS	458	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu500Pro	VAR_032216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032216	- Gaucher disease (GD) [MIM:230800]	SWISS	457	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Leu500Pro	VAR_032216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032216	- Gaucher disease (GD) [MIM:230800]	SWISS	463	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn501Lys	VAR_009049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009049	- Gaucher disease (GD) [MIM:230800]	SWISS	458	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asn501Lys	VAR_009049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009049	- Gaucher disease (GD) [MIM:230800]	SWISS	464	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg502Cys	VAR_003324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003324	- Gaucher disease (GD) [MIM:230800]	SWISS	459	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg502Cys	VAR_003324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003324	- Gaucher disease (GD) [MIM:230800]	SWISS	465	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg502Pro	VAR_032217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032217	- Gaucher disease (GD) [MIM:230800]	SWISS	459	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg502Pro	VAR_032217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032217	- Gaucher disease (GD) [MIM:230800]	SWISS	465	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp513Tyr	VAR_009050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009050	- Gaucher disease (GD) [MIM:230800]	SWISS	473	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Asp513Tyr	VAR_009050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009050	- Gaucher disease (GD) [MIM:230800]	SWISS	479	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly517Ser	VAR_003326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003326	- Gaucher disease (GD) [MIM:230800]	SWISS	477	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Gly517Ser	VAR_003326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003326	- Gaucher disease (GD) [MIM:230800]	SWISS	483	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Thr530Ile	VAR_010075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010075	- Gaucher disease (GD) [MIM:230800]	SWISS	489	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Thr530Ile	VAR_010075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010075	- Gaucher disease (GD) [MIM:230800]	SWISS	499	pfam02055	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg535Cys	VAR_003327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003327	- Gaucher disease (GD) [MIM:230800]	SWISS	494	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2629	55584151	Disease	p.Arg535His	VAR_003328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003328	- Gaucher disease (GD) [MIM:230800]	SWISS	494	COG5520	54607047,NP_001005742|54607043,NP_000148|54607045,NP_001005741
2632	67465046	Disease	p.Leu224Pro	VAR_022429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022429	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	309	COG1523	189458812,NP_000149
2632	67465046	Disease	p.Leu224Pro	VAR_022429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022429	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	78	COG0366	189458812,NP_000149
2632	67465046	Disease	p.Leu224Pro	VAR_022429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022429	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	224	COG0296	189458812,NP_000149
2632	67465046	Disease	p.Leu224Pro	VAR_022429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022429	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	70	smart00642	189458812,NP_000149
2632	67465046	Disease	p.Phe257Leu	VAR_022430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022430	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	377	COG1523	189458812,NP_000149
2632	67465046	Disease	p.Phe257Leu	VAR_022430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022430	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	132	COG0366	189458812,NP_000149
2632	67465046	Disease	p.Phe257Leu	VAR_022430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022430	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	266	COG0296	189458812,NP_000149
2632	67465046	Disease	p.Phe257Leu	VAR_022430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022430	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	66	pfam00128	189458812,NP_000149
2632	67465046	Disease	p.Phe257Leu	VAR_022430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022430	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	126	smart00642	189458812,NP_000149
2632	67465046	Disease	p.Tyr329Ser	VAR_022431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022431	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	465	COG1523	189458812,NP_000149
2632	67465046	Disease	p.Tyr329Ser	VAR_022431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022431	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	276	COG0366	189458812,NP_000149
2632	67465046	Disease	p.Tyr329Ser	VAR_022431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022431	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	340	COG0296	189458812,NP_000149
2632	67465046	Disease	p.Tyr329Ser	VAR_022431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022431	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	199	pfam00128	189458812,NP_000149
2632	67465046	Disease	p.Tyr329Ser	VAR_022431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022431	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	375	smart00642	189458812,NP_000149
2632	67465046	Disease	p.Arg515Cys	VAR_022432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022432	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	700	COG1523	189458812,NP_000149
2632	67465046	Disease	p.Arg515Cys	VAR_022432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022432	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	604	COG0366	189458812,NP_000149
2632	67465046	Disease	p.Arg515Cys	VAR_022432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022432	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	550	COG0296	189458812,NP_000149
2632	67465046	Disease	p.Arg515Cys	VAR_022432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022432	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	632	smart00642	189458812,NP_000149
2632	67465046	Disease	p.Arg515His	VAR_022433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022433	- Adult polyglucosan body disease (APBD) [MIM:263570]	SWISS	700	COG1523	189458812,NP_000149
2632	67465046	Disease	p.Arg515His	VAR_022433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022433	- Adult polyglucosan body disease (APBD) [MIM:263570]	SWISS	604	COG0366	189458812,NP_000149
2632	67465046	Disease	p.Arg515His	VAR_022433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022433	- Adult polyglucosan body disease (APBD) [MIM:263570]	SWISS	550	COG0296	189458812,NP_000149
2632	67465046	Disease	p.Arg515His	VAR_022433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022433	- Adult polyglucosan body disease (APBD) [MIM:263570]	SWISS	632	smart00642	189458812,NP_000149
2632	67465046	Disease	p.Arg524Gln	VAR_022434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022434	- Adult polyglucosan body disease (APBD) [MIM:263570]	SWISS	709	COG1523	189458812,NP_000149
2632	67465046	Disease	p.Arg524Gln	VAR_022434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022434	- Adult polyglucosan body disease (APBD) [MIM:263570]	SWISS	629	COG0366	189458812,NP_000149
2632	67465046	Disease	p.Arg524Gln	VAR_022434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022434	- Adult polyglucosan body disease (APBD) [MIM:263570]	SWISS	559	COG0296	189458812,NP_000149
2632	67465046	Disease	p.Arg524Gln	VAR_022434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022434	- Adult polyglucosan body disease (APBD) [MIM:263570]	SWISS	642	smart00642	189458812,NP_000149
2632	67465046	Disease	p.Arg524Gln	VAR_022434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022434	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	709	COG1523	189458812,NP_000149
2632	67465046	Disease	p.Arg524Gln	VAR_022434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022434	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	629	COG0366	189458812,NP_000149
2632	67465046	Disease	p.Arg524Gln	VAR_022434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022434	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	559	COG0296	189458812,NP_000149
2632	67465046	Disease	p.Arg524Gln	VAR_022434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022434	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	642	smart00642	189458812,NP_000149
2632	67465046	Disease	p.His545Arg	VAR_022435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022435	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	754_G	COG1523	189458812,NP_000149
2632	67465046	Disease	p.His545Arg	VAR_022435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022435	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	650	COG0366	189458812,NP_000149
2632	67465046	Disease	p.His545Arg	VAR_022435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022435	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	581	COG0296	189458812,NP_000149
2632	67465046	Disease	p.His545Arg	VAR_022435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022435	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	703	smart00642	189458812,NP_000149
2632	67465046	Disease	p.His628Arg	VAR_022436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022436	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	931	COG1523	189458812,NP_000149
2632	67465046	Disease	p.His628Arg	VAR_022436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022436	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	790	COG0366	189458812,NP_000149
2632	67465046	Disease	p.His628Arg	VAR_022436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022436	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	664	COG0296	189458812,NP_000149
2632	67465046	Disease	p.His628Arg	VAR_022436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022436	- Glycogen storage disease type 4 (GSD4) [MIM:232500]	SWISS	49	pfam02806	189458812,NP_000149
2639	2492631	Disease	p.Arg88Cys	VAR_000366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000366	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	22	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Arg88Cys	VAR_000366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000366	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	10	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Arg88Cys	VAR_000366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000366	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	61	pfam02771	4503943,NP_000150
2639	2492631	Disease	p.Arg88Cys	VAR_000366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000366	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	41	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Arg88Cys	VAR_000366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000366	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	60	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Arg88Cys	VAR_000366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000366	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	30	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Arg88Cys	VAR_000366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000366	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	29	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Arg88Cys	VAR_000366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000366	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	29	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Arg88Cys	VAR_000366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000366	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	35	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Arg88Cys	VAR_000366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000366	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	75	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Arg88Cys	VAR_000366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000366	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	43	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Arg88Cys	VAR_000366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000366	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	27	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Arg88Cys	VAR_000366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000366	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	27	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Arg88Cys	VAR_000366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000366	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	27	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Arg94Leu	VAR_000367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000367	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	32	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Arg94Leu	VAR_000367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000367	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	16	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Arg94Leu	VAR_000367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000367	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	95	pfam02771	4503943,NP_000150
2639	2492631	Disease	p.Arg94Leu	VAR_000367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000367	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	49	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Arg94Leu	VAR_000367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000367	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	68	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Arg94Leu	VAR_000367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000367	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	38	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Arg94Leu	VAR_000367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000367	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	35	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Arg94Leu	VAR_000367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000367	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	35	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Arg94Leu	VAR_000367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000367	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	43	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Arg94Leu	VAR_000367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000367	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	110	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Arg94Leu	VAR_000367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000367	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	49	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Arg94Leu	VAR_000367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000367	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	33	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Arg94Leu	VAR_000367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000367	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	33	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Arg94Leu	VAR_000367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000367	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	46	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Gly101Arg	VAR_000368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000368	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	48	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Gly101Arg	VAR_000368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000368	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	31	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Gly101Arg	VAR_000368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000368	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	111	pfam02771	4503943,NP_000150
2639	2492631	Disease	p.Gly101Arg	VAR_000368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000368	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	56	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Gly101Arg	VAR_000368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000368	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	75	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Gly101Arg	VAR_000368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000368	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	45	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Gly101Arg	VAR_000368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000368	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	42	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Gly101Arg	VAR_000368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000368	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	42	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Gly101Arg	VAR_000368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000368	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	50	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Gly101Arg	VAR_000368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000368	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	117	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Gly101Arg	VAR_000368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000368	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	56	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Gly101Arg	VAR_000368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000368	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	40	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Gly101Arg	VAR_000368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000368	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	40	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Gly101Arg	VAR_000368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000368	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	53	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Cys115Tyr	VAR_000369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000369	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	63	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Cys115Tyr	VAR_000369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000369	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	59	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Cys115Tyr	VAR_000369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000369	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	139	pfam02771	4503943,NP_000150
2639	2492631	Disease	p.Cys115Tyr	VAR_000369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000369	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	71	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Cys115Tyr	VAR_000369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000369	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	90	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Cys115Tyr	VAR_000369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000369	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	60	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Cys115Tyr	VAR_000369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000369	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	57	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Cys115Tyr	VAR_000369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000369	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	57	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Cys115Tyr	VAR_000369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000369	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	72	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Cys115Tyr	VAR_000369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000369	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	132	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Cys115Tyr	VAR_000369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000369	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	70	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Cys115Tyr	VAR_000369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000369	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	55	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Cys115Tyr	VAR_000369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000369	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	55	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Cys115Tyr	VAR_000369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000369	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	68	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Ala122Val	VAR_000370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000370	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	70	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Ala122Val	VAR_000370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000370	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	72	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Ala122Val	VAR_000370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000370	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	168	pfam02771	4503943,NP_000150
2639	2492631	Disease	p.Ala122Val	VAR_000370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000370	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	78	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Ala122Val	VAR_000370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000370	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	97	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Ala122Val	VAR_000370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000370	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	67	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Ala122Val	VAR_000370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000370	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	64	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Ala122Val	VAR_000370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000370	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	64	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Ala122Val	VAR_000370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000370	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	101	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Ala122Val	VAR_000370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000370	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	161	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Ala122Val	VAR_000370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000370	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	77	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Ala122Val	VAR_000370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000370	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	63	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Ala122Val	VAR_000370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000370	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	65	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Ala122Val	VAR_000370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000370	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	75	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Arg128Gly	VAR_000371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000371	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	76	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Arg128Gly	VAR_000371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000371	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	78	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Arg128Gly	VAR_000371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000371	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	175	pfam02771	4503943,NP_000150
2639	2492631	Disease	p.Arg128Gly	VAR_000371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000371	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	84	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Arg128Gly	VAR_000371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000371	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	103	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Arg128Gly	VAR_000371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000371	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	73	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Arg128Gly	VAR_000371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000371	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	70	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Arg128Gly	VAR_000371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000371	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	70	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Arg128Gly	VAR_000371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000371	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	107	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Arg128Gly	VAR_000371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000371	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	167	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Arg128Gly	VAR_000371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000371	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	87	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Arg128Gly	VAR_000371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000371	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	69	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Arg128Gly	VAR_000371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000371	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	71	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Arg128Gly	VAR_000371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000371	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	81	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Arg138Gly	VAR_000372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000372	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	87	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Arg138Gly	VAR_000372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000372	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	96	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Arg138Gly	VAR_000372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000372	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	197	pfam02771	4503943,NP_000150
2639	2492631	Disease	p.Arg138Gly	VAR_000372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000372	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	94	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Arg138Gly	VAR_000372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000372	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	113	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Arg138Gly	VAR_000372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000372	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	83	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Arg138Gly	VAR_000372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000372	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	80	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Arg138Gly	VAR_000372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000372	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	80	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Arg138Gly	VAR_000372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000372	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	111_G	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Arg138Gly	VAR_000372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000372	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	178	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Arg138Gly	VAR_000372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000372	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	97	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Arg138Gly	VAR_000372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000372	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	80	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Arg138Gly	VAR_000372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000372	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	81	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Arg138Gly	VAR_000372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000372	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	91	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Ser139Leu	VAR_000373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000373	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	88	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Ser139Leu	VAR_000373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000373	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	97	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Ser139Leu	VAR_000373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000373	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	198	pfam02771	4503943,NP_000150
2639	2492631	Disease	p.Ser139Leu	VAR_000373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000373	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	95	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Ser139Leu	VAR_000373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000373	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	114	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Ser139Leu	VAR_000373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000373	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	84	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Ser139Leu	VAR_000373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000373	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	81	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Ser139Leu	VAR_000373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000373	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	81	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Ser139Leu	VAR_000373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000373	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	111_G	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Ser139Leu	VAR_000373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000373	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	179	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Ser139Leu	VAR_000373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000373	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	98	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Ser139Leu	VAR_000373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000373	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	81	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Ser139Leu	VAR_000373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000373	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	82	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Ser139Leu	VAR_000373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000373	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	92	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Val148Ile	VAR_000374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000374	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	95	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Val148Ile	VAR_000374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000374	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	114	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Val148Ile	VAR_000374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000374	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	213	pfam02771	4503943,NP_000150
2639	2492631	Disease	p.Val148Ile	VAR_000374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000374	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	104	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Val148Ile	VAR_000374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000374	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	123	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Val148Ile	VAR_000374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000374	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	93	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Val148Ile	VAR_000374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000374	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	89	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Val148Ile	VAR_000374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000374	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	89	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Val148Ile	VAR_000374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000374	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	120	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Val148Ile	VAR_000374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000374	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	188	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Val148Ile	VAR_000374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000374	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	107	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Val148Ile	VAR_000374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000374	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	90	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Val148Ile	VAR_000374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000374	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	91	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Val148Ile	VAR_000374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000374	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	103	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Arg161Gln	VAR_000375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000375	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	109	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Arg161Gln	VAR_000375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000375	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	146	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Arg161Gln	VAR_000375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000375	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	238	pfam02771	4503943,NP_000150
2639	2492631	Disease	p.Arg161Gln	VAR_000375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000375	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	117	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Arg161Gln	VAR_000375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000375	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	136	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Arg161Gln	VAR_000375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000375	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	106	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Arg161Gln	VAR_000375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000375	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	102	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Arg161Gln	VAR_000375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000375	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	102	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Arg161Gln	VAR_000375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000375	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	142	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Arg161Gln	VAR_000375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000375	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	212	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Arg161Gln	VAR_000375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000375	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	125	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Arg161Gln	VAR_000375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000375	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	103	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Arg161Gln	VAR_000375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000375	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	104	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Arg161Gln	VAR_000375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000375	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	116	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Gly178Arg	VAR_000376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000376	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	126	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Gly178Arg	VAR_000376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000376	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	175	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Gly178Arg	VAR_000376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000376	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	3	pfam02770	4503943,NP_000150
2639	2492631	Disease	p.Gly178Arg	VAR_000376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000376	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	134	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Gly178Arg	VAR_000376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000376	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	153	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Gly178Arg	VAR_000376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000376	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	123	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Gly178Arg	VAR_000376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000376	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	119	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Gly178Arg	VAR_000376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000376	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	119	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Gly178Arg	VAR_000376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000376	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	159	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Gly178Arg	VAR_000376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000376	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	234	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Gly178Arg	VAR_000376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000376	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	149	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Gly178Arg	VAR_000376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000376	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	120	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Gly178Arg	VAR_000376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000376	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	121	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Gly178Arg	VAR_000376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000376	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	133	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Leu179Arg	VAR_000377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000377	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	127	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Leu179Arg	VAR_000377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000377	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	176	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Leu179Arg	VAR_000377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000377	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	4	pfam02770	4503943,NP_000150
2639	2492631	Disease	p.Leu179Arg	VAR_000377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000377	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	135	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Leu179Arg	VAR_000377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000377	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	154	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Leu179Arg	VAR_000377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000377	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	124	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Leu179Arg	VAR_000377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000377	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	120	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Leu179Arg	VAR_000377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000377	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	120	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Leu179Arg	VAR_000377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000377	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	160	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Leu179Arg	VAR_000377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000377	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	235	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Leu179Arg	VAR_000377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000377	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	150	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Leu179Arg	VAR_000377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000377	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	121	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Leu179Arg	VAR_000377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000377	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	122	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Leu179Arg	VAR_000377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000377	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	134	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Met191Thr	VAR_000378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000378	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	139	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Met191Thr	VAR_000378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000378	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	188	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Met191Thr	VAR_000378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000378	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	25	pfam02770	4503943,NP_000150
2639	2492631	Disease	p.Met191Thr	VAR_000378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000378	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	147	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Met191Thr	VAR_000378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000378	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	166	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Met191Thr	VAR_000378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000378	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	136	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Met191Thr	VAR_000378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000378	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	132	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Met191Thr	VAR_000378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000378	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	132	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Met191Thr	VAR_000378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000378	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	173	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Met191Thr	VAR_000378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000378	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	250	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Met191Thr	VAR_000378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000378	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	167	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Met191Thr	VAR_000378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000378	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	133	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Met191Thr	VAR_000378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000378	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	134	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Met191Thr	VAR_000378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000378	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	146	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Ala195Thr	VAR_000379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000379	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	143	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Ala195Thr	VAR_000379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000379	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	192	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Ala195Thr	VAR_000379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000379	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	29	pfam02770	4503943,NP_000150
2639	2492631	Disease	p.Ala195Thr	VAR_000379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000379	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	151	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Ala195Thr	VAR_000379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000379	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	170	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Ala195Thr	VAR_000379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000379	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	140	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Ala195Thr	VAR_000379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000379	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	136	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Ala195Thr	VAR_000379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000379	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	136	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Ala195Thr	VAR_000379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000379	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	177	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Ala195Thr	VAR_000379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000379	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	256	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Ala195Thr	VAR_000379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000379	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	171	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Ala195Thr	VAR_000379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000379	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	137	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Ala195Thr	VAR_000379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000379	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	138	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Ala195Thr	VAR_000379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000379	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	150	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	VAR_000380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000380	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	183	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	VAR_000380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000380	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	225	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	VAR_000380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000380	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	78	pfam02770	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	VAR_000380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000380	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	184	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	VAR_000380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000380	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	202	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	VAR_000380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000380	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	170	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	VAR_000380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000380	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	166	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	VAR_000380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000380	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	170	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	VAR_000380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000380	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	209	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	VAR_000380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000380	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	306	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	VAR_000380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000380	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	216	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	VAR_000380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000380	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	167	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	VAR_000380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000380	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	169	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Arg227Pro	VAR_000380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000380	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	180	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Phe236Leu	VAR_000381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000381	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	201	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Phe236Leu	VAR_000381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000381	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	240	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Phe236Leu	VAR_000381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000381	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	197	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Phe236Leu	VAR_000381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000381	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	220	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Phe236Leu	VAR_000381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000381	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	185	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Phe236Leu	VAR_000381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000381	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	182	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Phe236Leu	VAR_000381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000381	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	184	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Phe236Leu	VAR_000381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000381	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	210_G	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Phe236Leu	VAR_000381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000381	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	325	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Phe236Leu	VAR_000381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000381	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	238	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Phe236Leu	VAR_000381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000381	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	182	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Phe236Leu	VAR_000381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000381	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	182	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Phe236Leu	VAR_000381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000381	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	197	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Arg257Gln	VAR_000382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000382	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	233	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Arg257Gln	VAR_000382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000382	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	269	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Arg257Gln	VAR_000382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000382	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	223	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Arg257Gln	VAR_000382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000382	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	241	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Arg257Gln	VAR_000382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000382	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	206	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Arg257Gln	VAR_000382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000382	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	203	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Arg257Gln	VAR_000382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000382	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	205	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Arg257Gln	VAR_000382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000382	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	229	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Arg257Gln	VAR_000382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000382	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	361	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Arg257Gln	VAR_000382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000382	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	272	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Arg257Gln	VAR_000382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000382	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	203	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Arg257Gln	VAR_000382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000382	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	204	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Arg257Gln	VAR_000382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000382	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	212	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Arg257Trp	VAR_000383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000383	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	233	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Arg257Trp	VAR_000383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000383	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	269	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Arg257Trp	VAR_000383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000383	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	223	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Arg257Trp	VAR_000383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000383	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	241	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Arg257Trp	VAR_000383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000383	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	206	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Arg257Trp	VAR_000383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000383	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	203	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Arg257Trp	VAR_000383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000383	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	205	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Arg257Trp	VAR_000383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000383	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	229	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Arg257Trp	VAR_000383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000383	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	361	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Arg257Trp	VAR_000383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000383	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	272	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Arg257Trp	VAR_000383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000383	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	203	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Arg257Trp	VAR_000383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000383	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	204	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Arg257Trp	VAR_000383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000383	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	212	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Met263Val	VAR_060588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060588	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	239	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Met263Val	VAR_060588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060588	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	275	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Met263Val	VAR_060588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060588	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	229	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Met263Val	VAR_060588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060588	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	247	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Met263Val	VAR_060588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060588	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	212	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Met263Val	VAR_060588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060588	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	209	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Met263Val	VAR_060588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060588	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	211	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Met263Val	VAR_060588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060588	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	235	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Met263Val	VAR_060588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060588	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	367	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Met263Val	VAR_060588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060588	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	278	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Met263Val	VAR_060588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060588	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	209	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Met263Val	VAR_060588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060588	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	210	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Met263Val	VAR_060588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060588	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	222	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Met266Val	VAR_000384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000384	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	242	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Met266Val	VAR_000384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000384	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	278	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Met266Val	VAR_000384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000384	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	232	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Met266Val	VAR_000384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000384	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	250	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Met266Val	VAR_000384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000384	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	215	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Met266Val	VAR_000384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000384	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	212	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Met266Val	VAR_000384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000384	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	214	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Met266Val	VAR_000384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000384	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	247	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Met266Val	VAR_000384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000384	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	370	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Met266Val	VAR_000384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000384	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	281	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Met266Val	VAR_000384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000384	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	212	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Met266Val	VAR_000384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000384	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	213	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Met266Val	VAR_000384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000384	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	225	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Pro278Ser	VAR_000385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000385	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	266	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Pro278Ser	VAR_000385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000385	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	303	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Pro278Ser	VAR_000385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000385	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	245	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Pro278Ser	VAR_000385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000385	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	261_G	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Pro278Ser	VAR_000385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000385	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	226_G	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Pro278Ser	VAR_000385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000385	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	224	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Pro278Ser	VAR_000385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000385	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	226	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Pro278Ser	VAR_000385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000385	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	264	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Pro278Ser	VAR_000385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000385	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	397	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Pro278Ser	VAR_000385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000385	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	293	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Pro278Ser	VAR_000385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000385	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	228	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Pro278Ser	VAR_000385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000385	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	224_G	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Pro278Ser	VAR_000385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000385	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	236_G	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Leu283Pro	VAR_000386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000386	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	271	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Leu283Pro	VAR_000386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000386	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	308	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Leu283Pro	VAR_000386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000386	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	250	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Leu283Pro	VAR_000386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000386	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	264	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Leu283Pro	VAR_000386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000386	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	231	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Leu283Pro	VAR_000386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000386	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	230	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Leu283Pro	VAR_000386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000386	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	231	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Leu283Pro	VAR_000386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000386	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	270	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Leu283Pro	VAR_000386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000386	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	412	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Leu283Pro	VAR_000386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000386	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	298	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Leu283Pro	VAR_000386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000386	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	233	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Leu283Pro	VAR_000386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000386	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	224_G	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Leu283Pro	VAR_000386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000386	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	241	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	VAR_000387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000387	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	284	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	VAR_000387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000387	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	312	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	VAR_000387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000387	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	260	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	VAR_000387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000387	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	278	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	VAR_000387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000387	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	243	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	VAR_000387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000387	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	240	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	VAR_000387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000387	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	245	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	VAR_000387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000387	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	280	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	VAR_000387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000387	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	422	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	VAR_000387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000387	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	15	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	VAR_000387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000387	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	322	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	VAR_000387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000387	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	240	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	VAR_000387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000387	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	241	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Ala293Thr	VAR_000387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000387	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	253	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Arg294Trp	VAR_000388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000388	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	285	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Arg294Trp	VAR_000388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000388	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	313	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Arg294Trp	VAR_000388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000388	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	261	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Arg294Trp	VAR_000388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000388	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	279	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Arg294Trp	VAR_000388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000388	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	244	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Arg294Trp	VAR_000388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000388	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	241	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Arg294Trp	VAR_000388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000388	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	246	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Arg294Trp	VAR_000388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000388	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	281	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Arg294Trp	VAR_000388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000388	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	423	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Arg294Trp	VAR_000388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000388	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	16	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Arg294Trp	VAR_000388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000388	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	323	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Arg294Trp	VAR_000388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000388	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	241	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Arg294Trp	VAR_000388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000388	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	242	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Arg294Trp	VAR_000388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000388	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	254	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	VAR_000389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000389	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	286	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	VAR_000389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000389	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	314	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	VAR_000389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000389	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	262	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	VAR_000389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000389	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	280	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	VAR_000389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000389	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	245	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	VAR_000389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000389	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	242	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	VAR_000389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000389	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	247	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	VAR_000389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000389	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	282	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	VAR_000389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000389	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	424	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	VAR_000389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000389	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	17	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	VAR_000389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000389	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	324	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	VAR_000389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000389	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	242	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	VAR_000389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000389	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	243	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Tyr295His	VAR_000389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000389	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	254_G	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Ser305Leu	VAR_000392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000392	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	296	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Ser305Leu	VAR_000392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000392	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	324	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Ser305Leu	VAR_000392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000392	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	11	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Ser305Leu	VAR_000392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000392	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	272	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Ser305Leu	VAR_000392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000392	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	290	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Ser305Leu	VAR_000392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000392	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	255	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Ser305Leu	VAR_000392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000392	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	252	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Ser305Leu	VAR_000392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000392	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	257	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Ser305Leu	VAR_000392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000392	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	310	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Ser305Leu	VAR_000392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000392	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	439	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Ser305Leu	VAR_000392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000392	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	27	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Ser305Leu	VAR_000392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000392	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	334	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Ser305Leu	VAR_000392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000392	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	252	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Ser305Leu	VAR_000392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000392	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	253	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Ser305Leu	VAR_000392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000392	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	260	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Cys308Ser	VAR_000393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000393	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	299	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Cys308Ser	VAR_000393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000393	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	327	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Cys308Ser	VAR_000393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000393	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	14	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Cys308Ser	VAR_000393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000393	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	275	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Cys308Ser	VAR_000393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000393	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	293	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Cys308Ser	VAR_000393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000393	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	258	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Cys308Ser	VAR_000393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000393	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	255	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Cys308Ser	VAR_000393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000393	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	260	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Cys308Ser	VAR_000393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000393	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	313	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Cys308Ser	VAR_000393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000393	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	442	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Cys308Ser	VAR_000393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000393	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	30	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Cys308Ser	VAR_000393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000393	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	337	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Cys308Ser	VAR_000393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000393	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	255	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Cys308Ser	VAR_000393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000393	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	256	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Cys308Ser	VAR_000393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000393	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	263	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Leu309Trp	VAR_000394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000394	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	300	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Leu309Trp	VAR_000394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000394	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	328	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Leu309Trp	VAR_000394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000394	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	15	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Leu309Trp	VAR_000394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000394	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	276	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Leu309Trp	VAR_000394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000394	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	294	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Leu309Trp	VAR_000394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000394	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	259	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Leu309Trp	VAR_000394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000394	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	256	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Leu309Trp	VAR_000394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000394	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	261	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Leu309Trp	VAR_000394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000394	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	314	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Leu309Trp	VAR_000394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000394	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	443	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Leu309Trp	VAR_000394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000394	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	31	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Leu309Trp	VAR_000394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000394	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	338	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Leu309Trp	VAR_000394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000394	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	256	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Leu309Trp	VAR_000394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000394	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	257	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Leu309Trp	VAR_000394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000394	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	264	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Arg313Trp	VAR_000395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000395	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	304	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Arg313Trp	VAR_000395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000395	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	332	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Arg313Trp	VAR_000395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000395	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	19	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Arg313Trp	VAR_000395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000395	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	280	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Arg313Trp	VAR_000395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000395	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	298	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Arg313Trp	VAR_000395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000395	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	263	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Arg313Trp	VAR_000395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000395	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	260	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Arg313Trp	VAR_000395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000395	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	265	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Arg313Trp	VAR_000395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000395	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	318	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Arg313Trp	VAR_000395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000395	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	447	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Arg313Trp	VAR_000395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000395	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	35	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Arg313Trp	VAR_000395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000395	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	342	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Arg313Trp	VAR_000395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000395	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	260	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Arg313Trp	VAR_000395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000395	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	261	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Arg313Trp	VAR_000395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000395	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	268	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Gln333Glu	VAR_000396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000396	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	343	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Gln333Glu	VAR_000396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000396	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	352	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Gln333Glu	VAR_000396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000396	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	46	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Gln333Glu	VAR_000396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000396	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	301	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Gln333Glu	VAR_000396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000396	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	318	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Gln333Glu	VAR_000396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000396	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	283	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Gln333Glu	VAR_000396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000396	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	280	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Gln333Glu	VAR_000396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000396	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	285	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Gln333Glu	VAR_000396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000396	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	340	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Gln333Glu	VAR_000396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000396	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	480	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Gln333Glu	VAR_000396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000396	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	58	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Gln333Glu	VAR_000396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000396	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	369	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Gln333Glu	VAR_000396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000396	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	280	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Gln333Glu	VAR_000396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000396	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	282	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Gln333Glu	VAR_000396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000396	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	297	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Ala349Thr	VAR_000397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000397	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	359	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Ala349Thr	VAR_000397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000397	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	368	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Ala349Thr	VAR_000397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000397	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	62	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Ala349Thr	VAR_000397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000397	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	317	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Ala349Thr	VAR_000397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000397	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	339	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Ala349Thr	VAR_000397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000397	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	305	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Ala349Thr	VAR_000397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000397	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	296	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Ala349Thr	VAR_000397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000397	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	297	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Ala349Thr	VAR_000397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000397	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	360	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Ala349Thr	VAR_000397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000397	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	509	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Ala349Thr	VAR_000397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000397	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	75	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Ala349Thr	VAR_000397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000397	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	385	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Ala349Thr	VAR_000397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000397	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	299	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Ala349Thr	VAR_000397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000397	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	302	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Ala349Thr	VAR_000397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000397	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	313	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Gly354Arg	VAR_000398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000398	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	364	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Gly354Arg	VAR_000398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000398	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	373	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Gly354Arg	VAR_000398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000398	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	67	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Gly354Arg	VAR_000398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000398	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	322	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Gly354Arg	VAR_000398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000398	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	344	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Gly354Arg	VAR_000398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000398	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	310	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Gly354Arg	VAR_000398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000398	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	301	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Gly354Arg	VAR_000398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000398	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	307	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Gly354Arg	VAR_000398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000398	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	364_G	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Gly354Arg	VAR_000398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000398	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	520	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Gly354Arg	VAR_000398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000398	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	80	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Gly354Arg	VAR_000398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000398	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	390	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Gly354Arg	VAR_000398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000398	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	302_G	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Gly354Arg	VAR_000398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000398	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	303_G	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Gly354Arg	VAR_000398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000398	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	318	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Gly354Ser	VAR_000399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000399	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	364	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Gly354Ser	VAR_000399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000399	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	373	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Gly354Ser	VAR_000399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000399	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	67	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Gly354Ser	VAR_000399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000399	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	322	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Gly354Ser	VAR_000399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000399	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	344	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Gly354Ser	VAR_000399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000399	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	310	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Gly354Ser	VAR_000399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000399	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	301	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Gly354Ser	VAR_000399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000399	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	307	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Gly354Ser	VAR_000399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000399	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	364_G	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Gly354Ser	VAR_000399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000399	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	520	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Gly354Ser	VAR_000399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000399	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	80	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Gly354Ser	VAR_000399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000399	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	390	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Gly354Ser	VAR_000399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000399	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	302_G	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Gly354Ser	VAR_000399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000399	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	303_G	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Gly354Ser	VAR_000399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000399	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	318	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Arg355Cys	VAR_000400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000400	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	365	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Arg355Cys	VAR_000400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000400	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	374	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Arg355Cys	VAR_000400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000400	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	68	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Arg355Cys	VAR_000400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000400	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	323	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Arg355Cys	VAR_000400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000400	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	345	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Arg355Cys	VAR_000400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000400	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	311	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Arg355Cys	VAR_000400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000400	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	302	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Arg355Cys	VAR_000400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000400	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	308	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Arg355Cys	VAR_000400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000400	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	364_G	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Arg355Cys	VAR_000400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000400	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	521	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Arg355Cys	VAR_000400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000400	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	81	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Arg355Cys	VAR_000400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000400	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	391	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Arg355Cys	VAR_000400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000400	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	302_G	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Arg355Cys	VAR_000400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000400	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	304	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Arg355Cys	VAR_000400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000400	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	319	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Arg355His	VAR_000401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000401	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	365	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Arg355His	VAR_000401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000401	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	374	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Arg355His	VAR_000401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000401	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	68	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Arg355His	VAR_000401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000401	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	323	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Arg355His	VAR_000401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000401	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	345	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Arg355His	VAR_000401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000401	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	311	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Arg355His	VAR_000401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000401	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	302	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Arg355His	VAR_000401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000401	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	308	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Arg355His	VAR_000401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000401	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	364_G	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Arg355His	VAR_000401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000401	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	521	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Arg355His	VAR_000401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000401	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	81	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Arg355His	VAR_000401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000401	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	391	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Arg355His	VAR_000401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000401	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	302_G	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Arg355His	VAR_000401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000401	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	304	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Arg355His	VAR_000401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000401	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	319	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	VAR_000402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000402	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	384	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	VAR_000402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000402	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	384	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	VAR_000402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000402	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	88	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	VAR_000402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000402	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	333	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	VAR_000402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000402	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	359	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	VAR_000402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000402	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	326	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	VAR_000402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000402	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	312	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	VAR_000402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000402	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	318	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	VAR_000402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000402	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	374	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	VAR_000402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000402	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	553	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	VAR_000402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000402	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	102	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	VAR_000402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000402	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	414	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	VAR_000402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000402	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	312	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	VAR_000402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000402	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	315	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Glu365Lys	VAR_000402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000402	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	332	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Cys375Arg	VAR_000403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000403	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	398	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Cys375Arg	VAR_000403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000403	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	406	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Cys375Arg	VAR_000403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000403	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	101	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Cys375Arg	VAR_000403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000403	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	343	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Cys375Arg	VAR_000403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000403	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	369	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Cys375Arg	VAR_000403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000403	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	330	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Cys375Arg	VAR_000403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000403	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	322	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Cys375Arg	VAR_000403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000403	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	328	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Cys375Arg	VAR_000403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000403	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	384	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Cys375Arg	VAR_000403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000403	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	563	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Cys375Arg	VAR_000403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000403	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	113	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Cys375Arg	VAR_000403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000403	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	424	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Cys375Arg	VAR_000403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000403	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	322	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Cys375Arg	VAR_000403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000403	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	325	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Cys375Arg	VAR_000403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000403	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	342	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Ala382Thr	VAR_000404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000404	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	405	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Ala382Thr	VAR_000404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000404	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	413	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Ala382Thr	VAR_000404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000404	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	108	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Ala382Thr	VAR_000404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000404	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	350	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Ala382Thr	VAR_000404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000404	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	386	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Ala382Thr	VAR_000404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000404	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	337	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Ala382Thr	VAR_000404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000404	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	329	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Ala382Thr	VAR_000404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000404	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	335	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Ala382Thr	VAR_000404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000404	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	391	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Ala382Thr	VAR_000404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000404	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	570	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Ala382Thr	VAR_000404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000404	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	120	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Ala382Thr	VAR_000404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000404	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	431	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Ala382Thr	VAR_000404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000404	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	329	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Ala382Thr	VAR_000404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000404	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	332	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Ala382Thr	VAR_000404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000404	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	349	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Arg383Cys	VAR_000405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000405	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	406	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Arg383Cys	VAR_000405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000405	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	414	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Arg383Cys	VAR_000405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000405	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	109	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Arg383Cys	VAR_000405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000405	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	351	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Arg383Cys	VAR_000405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000405	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	387	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Arg383Cys	VAR_000405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000405	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	338	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Arg383Cys	VAR_000405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000405	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	330	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Arg383Cys	VAR_000405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000405	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	336	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Arg383Cys	VAR_000405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000405	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	392	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Arg383Cys	VAR_000405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000405	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	571	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Arg383Cys	VAR_000405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000405	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	121	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Arg383Cys	VAR_000405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000405	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	432	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Arg383Cys	VAR_000405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000405	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	330	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Arg383Cys	VAR_000405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000405	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	333	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Arg383Cys	VAR_000405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000405	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	350	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Arg383His	VAR_000406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000406	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	406	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Arg383His	VAR_000406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000406	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	414	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Arg383His	VAR_000406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000406	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	109	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Arg383His	VAR_000406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000406	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	351	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Arg383His	VAR_000406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000406	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	387	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Arg383His	VAR_000406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000406	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	338	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Arg383His	VAR_000406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000406	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	330	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Arg383His	VAR_000406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000406	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	336	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Arg383His	VAR_000406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000406	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	392	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Arg383His	VAR_000406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000406	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	571	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Arg383His	VAR_000406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000406	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	121	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Arg383His	VAR_000406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000406	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	432	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Arg383His	VAR_000406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000406	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	330	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Arg383His	VAR_000406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000406	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	333	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Arg383His	VAR_000406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000406	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	350	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Arg386Gln	VAR_000407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000407	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	409	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Arg386Gln	VAR_000407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000407	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	417	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Arg386Gln	VAR_000407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000407	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	112	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Arg386Gln	VAR_000407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000407	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	354	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Arg386Gln	VAR_000407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000407	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	390	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Arg386Gln	VAR_000407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000407	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	341	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Arg386Gln	VAR_000407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000407	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	333	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Arg386Gln	VAR_000407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000407	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	339	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Arg386Gln	VAR_000407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000407	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	395	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Arg386Gln	VAR_000407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000407	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	574	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Arg386Gln	VAR_000407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000407	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	124	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Arg386Gln	VAR_000407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000407	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	435	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Arg386Gln	VAR_000407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000407	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	333	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Arg386Gln	VAR_000407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000407	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	336	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Arg386Gln	VAR_000407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000407	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	353	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Gly390Ala	VAR_000409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000409	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	413	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Gly390Ala	VAR_000409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000409	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	421	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Gly390Ala	VAR_000409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000409	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	120	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Gly390Ala	VAR_000409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000409	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	358	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Gly390Ala	VAR_000409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000409	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	394	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Gly390Ala	VAR_000409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000409	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	345	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Gly390Ala	VAR_000409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000409	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	337	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Gly390Ala	VAR_000409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000409	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	343	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Gly390Ala	VAR_000409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000409	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	399	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Gly390Ala	VAR_000409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000409	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	578	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Gly390Ala	VAR_000409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000409	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	128	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Gly390Ala	VAR_000409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000409	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	439	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Gly390Ala	VAR_000409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000409	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	337	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Gly390Ala	VAR_000409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000409	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	340	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Gly390Ala	VAR_000409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000409	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	357	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Gly390Arg	VAR_000408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000408	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	413	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Gly390Arg	VAR_000408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000408	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	421	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Gly390Arg	VAR_000408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000408	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	120	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Gly390Arg	VAR_000408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000408	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	358	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Gly390Arg	VAR_000408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000408	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	394	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Gly390Arg	VAR_000408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000408	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	345	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Gly390Arg	VAR_000408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000408	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	337	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Gly390Arg	VAR_000408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000408	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	343	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Gly390Arg	VAR_000408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000408	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	399	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Gly390Arg	VAR_000408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000408	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	578	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Gly390Arg	VAR_000408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000408	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	128	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Gly390Arg	VAR_000408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000408	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	439	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Gly390Arg	VAR_000408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000408	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	337	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Gly390Arg	VAR_000408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000408	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	340	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Gly390Arg	VAR_000408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000408	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	357	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Asn392Asp	VAR_000410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000410	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	415	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Asn392Asp	VAR_000410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000410	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	423	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Asn392Asp	VAR_000410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000410	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	122	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Asn392Asp	VAR_000410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000410	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	360	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Asn392Asp	VAR_000410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000410	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	396	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Asn392Asp	VAR_000410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000410	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	347	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Asn392Asp	VAR_000410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000410	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	339	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Asn392Asp	VAR_000410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000410	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	345	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Asn392Asp	VAR_000410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000410	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	401	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Asn392Asp	VAR_000410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000410	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	620	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Asn392Asp	VAR_000410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000410	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	130	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Asn392Asp	VAR_000410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000410	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	441	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Asn392Asp	VAR_000410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000410	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	339	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Asn392Asp	VAR_000410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000410	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	342	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Asn392Asp	VAR_000410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000410	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	359	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	VAR_000411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000411	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	423	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	VAR_000411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000411	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	431	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	VAR_000411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000411	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	130	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	VAR_000411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000411	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	368	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	VAR_000411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000411	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	404	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	VAR_000411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000411	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	355	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	VAR_000411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000411	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	347	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	VAR_000411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000411	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	353	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	VAR_000411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000411	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	414	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	VAR_000411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000411	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	638	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	VAR_000411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000411	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	148	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	VAR_000411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000411	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	468	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	VAR_000411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000411	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	347	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	VAR_000411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000411	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	350	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Val400Met	VAR_000411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000411	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	384	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Arg402Gln	VAR_000413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000413	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	425	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Arg402Gln	VAR_000413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000413	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	433	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Arg402Gln	VAR_000413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000413	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	132	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Arg402Gln	VAR_000413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000413	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	370	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Arg402Gln	VAR_000413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000413	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	406	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Arg402Gln	VAR_000413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000413	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	357	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Arg402Gln	VAR_000413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000413	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	349	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Arg402Gln	VAR_000413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000413	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	355	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Arg402Gln	VAR_000413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000413	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	416	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Arg402Gln	VAR_000413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000413	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	640	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Arg402Gln	VAR_000413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000413	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	150	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Arg402Gln	VAR_000413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000413	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	470	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Arg402Gln	VAR_000413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000413	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	349	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Arg402Gln	VAR_000413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000413	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	352	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Arg402Gln	VAR_000413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000413	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	386	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	VAR_000412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000412	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	425	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	VAR_000412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000412	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	433	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	VAR_000412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000412	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	132	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	VAR_000412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000412	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	370	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	VAR_000412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000412	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	406	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	VAR_000412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000412	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	357	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	VAR_000412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000412	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	349	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	VAR_000412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000412	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	355	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	VAR_000412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000412	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	416	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	VAR_000412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000412	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	640	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	VAR_000412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000412	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	150	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	VAR_000412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000412	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	470	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	VAR_000412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000412	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	349	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	VAR_000412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000412	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	352	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Arg402Trp	VAR_000412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000412	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	386	cd01152	4503943,NP_000150
2639	2492631	Disease	p.His403Arg	VAR_000414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000414	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	426	cd01153	4503943,NP_000150
2639	2492631	Disease	p.His403Arg	VAR_000414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000414	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	434	cd01154	4503943,NP_000150
2639	2492631	Disease	p.His403Arg	VAR_000414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000414	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	133	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.His403Arg	VAR_000414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000414	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	371	cd01151	4503943,NP_000150
2639	2492631	Disease	p.His403Arg	VAR_000414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000414	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	407	cd01161	4503943,NP_000150
2639	2492631	Disease	p.His403Arg	VAR_000414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000414	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	358	cd01156	4503943,NP_000150
2639	2492631	Disease	p.His403Arg	VAR_000414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000414	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	350	cd01157	4503943,NP_000150
2639	2492631	Disease	p.His403Arg	VAR_000414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000414	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	356	cd01162	4503943,NP_000150
2639	2492631	Disease	p.His403Arg	VAR_000414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000414	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	417	cd01155	4503943,NP_000150
2639	2492631	Disease	p.His403Arg	VAR_000414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000414	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	641	COG1960	4503943,NP_000150
2639	2492631	Disease	p.His403Arg	VAR_000414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000414	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	151	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.His403Arg	VAR_000414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000414	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	471	cd00567	4503943,NP_000150
2639	2492631	Disease	p.His403Arg	VAR_000414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000414	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	349_G	cd01160	4503943,NP_000150
2639	2492631	Disease	p.His403Arg	VAR_000414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000414	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	353	cd01158	4503943,NP_000150
2639	2492631	Disease	p.His403Arg	VAR_000414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000414	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	387	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Asn406Lys	VAR_000415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000415	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	429	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Asn406Lys	VAR_000415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000415	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	436_G	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Asn406Lys	VAR_000415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000415	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	136	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Asn406Lys	VAR_000415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000415	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	374	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Asn406Lys	VAR_000415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000415	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	410	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Asn406Lys	VAR_000415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000415	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	358_G	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Asn406Lys	VAR_000415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000415	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	353	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Asn406Lys	VAR_000415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000415	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	359	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Asn406Lys	VAR_000415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000415	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	420	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Asn406Lys	VAR_000415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000415	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	659	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Asn406Lys	VAR_000415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000415	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	154	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Asn406Lys	VAR_000415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000415	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	474	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Asn406Lys	VAR_000415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000415	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	351	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Asn406Lys	VAR_000415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000415	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	359	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Asn406Lys	VAR_000415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000415	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	390	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Leu407Pro	VAR_000416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000416	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	430	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Leu407Pro	VAR_000416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000416	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	436_G	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Leu407Pro	VAR_000416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000416	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	137	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Leu407Pro	VAR_000416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000416	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	375	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Leu407Pro	VAR_000416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000416	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	411	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Leu407Pro	VAR_000416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000416	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	359	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Leu407Pro	VAR_000416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000416	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	354	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Leu407Pro	VAR_000416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000416	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	360	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Leu407Pro	VAR_000416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000416	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	430	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Leu407Pro	VAR_000416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000416	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	660	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Leu407Pro	VAR_000416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000416	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	155	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Leu407Pro	VAR_000416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000416	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	475	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Leu407Pro	VAR_000416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000416	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	352	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Leu407Pro	VAR_000416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000416	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	360	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Leu407Pro	VAR_000416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000416	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	391	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Glu414Lys	VAR_000417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000417	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	437	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Glu414Lys	VAR_000417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000417	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	445	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Glu414Lys	VAR_000417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000417	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	144	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Glu414Lys	VAR_000417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000417	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	382	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Glu414Lys	VAR_000417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000417	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	418	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Glu414Lys	VAR_000417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000417	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	366	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Glu414Lys	VAR_000417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000417	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	361	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Glu414Lys	VAR_000417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000417	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	367	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Glu414Lys	VAR_000417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000417	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	437	cd01155	4503943,NP_000150
2639	2492631	Disease	p.Glu414Lys	VAR_000417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000417	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	667	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Glu414Lys	VAR_000417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000417	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	162	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Glu414Lys	VAR_000417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000417	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	489	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Glu414Lys	VAR_000417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000417	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	361	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Glu414Lys	VAR_000417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000417	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	364	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Glu414Lys	VAR_000417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000417	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	400	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	VAR_000418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000418	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	439	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	VAR_000418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000418	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	447	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	VAR_000418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000418	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	146	pfam08028	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	VAR_000418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000418	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	384	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	VAR_000418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000418	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	420	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	VAR_000418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000418	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	371	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	VAR_000418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000418	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	363	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	VAR_000418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000418	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	369	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	VAR_000418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000418	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	669	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	VAR_000418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000418	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	165	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	VAR_000418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000418	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	491	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	VAR_000418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000418	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	363	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	VAR_000418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000418	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	366	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Thr416Ile	VAR_000418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000418	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	402	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Ala421Thr	VAR_000419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000419	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	444	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Ala421Thr	VAR_000419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000419	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	452	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Ala421Thr	VAR_000419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000419	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	389	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Ala421Thr	VAR_000419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000419	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	425	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Ala421Thr	VAR_000419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000419	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	376	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Ala421Thr	VAR_000419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000419	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	368	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Ala421Thr	VAR_000419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000419	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	374	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Ala421Thr	VAR_000419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000419	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	674	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Ala421Thr	VAR_000419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000419	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	171	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Ala421Thr	VAR_000419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000419	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	497	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Ala421Thr	VAR_000419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000419	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	368	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Ala421Thr	VAR_000419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000419	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	371	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Ala421Thr	VAR_000419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000419	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	407	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	VAR_000420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000420	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	444	cd01153	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	VAR_000420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000420	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	452	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	VAR_000420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000420	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	389	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	VAR_000420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000420	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	425	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	VAR_000420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000420	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	376	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	VAR_000420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000420	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	368	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	VAR_000420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000420	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	374	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	VAR_000420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000420	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	674	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	VAR_000420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000420	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	171	pfam00441	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	VAR_000420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000420	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	497	cd00567	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	VAR_000420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000420	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	368	cd01160	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	VAR_000420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000420	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	371	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Ala421Val	VAR_000420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000420	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	407	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Thr429Met	VAR_000421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000421	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	460	cd01154	4503943,NP_000150
2639	2492631	Disease	p.Thr429Met	VAR_000421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000421	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	397	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Thr429Met	VAR_000421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000421	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	431	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Thr429Met	VAR_000421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000421	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	384	cd01156	4503943,NP_000150
2639	2492631	Disease	p.Thr429Met	VAR_000421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000421	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	376	cd01157	4503943,NP_000150
2639	2492631	Disease	p.Thr429Met	VAR_000421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000421	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	382	cd01162	4503943,NP_000150
2639	2492631	Disease	p.Thr429Met	VAR_000421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000421	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	682	COG1960	4503943,NP_000150
2639	2492631	Disease	p.Thr429Met	VAR_000421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000421	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	379	cd01158	4503943,NP_000150
2639	2492631	Disease	p.Thr429Met	VAR_000421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000421	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	415	cd01152	4503943,NP_000150
2639	2492631	Disease	p.Ala433Glu	VAR_000422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000422	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	401	cd01151	4503943,NP_000150
2639	2492631	Disease	p.Ala433Glu	VAR_000422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000422	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	435	cd01161	4503943,NP_000150
2639	2492631	Disease	p.Ala433Glu	VAR_000422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000422	- Glutaric aciduria type 1 (GA1) [MIM:231670]	SWISS	686	COG1960	4503943,NP_000150
2643	399536	Disease	p.Pro23Leu	VAR_002633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002633	rs41298432 Dystonia type 5 (DYT5) [MIM:128230]	SWISS	No Domain	N/A	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Leu71Gln	VAR_016888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016888	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	6	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Leu71Gln	VAR_016888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016888	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	29	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ala74Val	VAR_016889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016889	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	9	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ala74Val	VAR_016889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016889	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	32	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Leu79Pro	VAR_002634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002634	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	14	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Leu79Pro	VAR_002634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002634	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	37	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly83Ala	VAR_016890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016890	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	18	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly83Ala	VAR_016890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016890	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	41	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg88Pro	VAR_002635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002635	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	23	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg88Pro	VAR_002635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002635	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	46	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg88Trp	VAR_002636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002636	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	23	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg88Trp	VAR_002636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002636	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	46	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly90Val	VAR_016892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016892	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	25	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly90Val	VAR_016892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016892	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	48	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met102Lys	VAR_002637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002637	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	37	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met102Lys	VAR_002637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002637	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	60	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met102Arg	VAR_016893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016893	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	37	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met102Arg	VAR_016893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016893	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	60	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Thr106Ile	VAR_054112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054112	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	42	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Thr106Ile	VAR_054112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054112	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	65	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly108Asp	VAR_016894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016894	- GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]	SWISS	44	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly108Asp	VAR_016894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016894	- GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]	SWISS	67	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Asp115Asn	VAR_016895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016895	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	51	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Asp115Asn	VAR_016895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016895	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	74	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Asp134Val	VAR_002638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002638	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	9	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Asp134Val	VAR_002638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002638	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	71	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Asp134Val	VAR_002638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002638	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	102	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ile135Lys	VAR_016896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016896	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	10	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ile135Lys	VAR_016896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016896	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	72	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ile135Lys	VAR_016896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016896	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	103	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Cys141Arg	VAR_016897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016897	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	16	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Cys141Arg	VAR_016897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016897	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	78	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Cys141Arg	VAR_016897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016897	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	109	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Cys141Trp	VAR_002639	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002639	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	16	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Cys141Trp	VAR_002639	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002639	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	78	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Cys141Trp	VAR_002639	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002639	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	109	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.His144Pro	VAR_002640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002640	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	35	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.His144Pro	VAR_002640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002640	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	81	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.His144Pro	VAR_002640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002640	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	112	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.His153Pro	VAR_002641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002641	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	8	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.His153Pro	VAR_002641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002641	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	44	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.His153Pro	VAR_002641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002641	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	90	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.His153Pro	VAR_002641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002641	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	122	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Leu163Arg	VAR_016898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016898	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	24	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Leu163Arg	VAR_016898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016898	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	77	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Leu163Arg	VAR_016898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016898	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	101	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Leu163Arg	VAR_016898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016898	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	134	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ser176Thr	VAR_016899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016899	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	38	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ser176Thr	VAR_016899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016899	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	90	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ser176Thr	VAR_016899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016899	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	114	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Ser176Thr	VAR_016899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016899	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	147	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg178Ser	VAR_002642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002642	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	40	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg178Ser	VAR_002642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002642	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	92	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg178Ser	VAR_002642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002642	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	116	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg178Ser	VAR_002642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002642	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	149	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gln180Arg	VAR_016900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016900	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	42	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gln180Arg	VAR_016900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016900	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	99	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gln180Arg	VAR_016900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016900	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	118	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gln180Arg	VAR_016900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016900	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	151	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg184His	VAR_002643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002643	- GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]	SWISS	52	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg184His	VAR_002643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002643	- GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]	SWISS	103	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg184His	VAR_002643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002643	- GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]	SWISS	122	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg184His	VAR_002643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002643	- GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]	SWISS	155	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Thr186Lys	VAR_002644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002644	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	54	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Thr186Lys	VAR_002644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002644	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	105	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Thr186Lys	VAR_002644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002644	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	124	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Thr186Lys	VAR_002644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002644	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	157	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Val191Ile	VAR_016901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016901	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	59	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Val191Ile	VAR_016901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016901	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	110	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Val191Ile	VAR_016901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016901	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	129	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Val191Ile	VAR_016901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016901	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	162	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Pro199Leu	VAR_016902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016902	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	68	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Pro199Leu	VAR_016902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016902	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	126	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Pro199Leu	VAR_016902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016902	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	137	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Pro199Leu	VAR_016902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016902	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	171	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly201Glu	VAR_002645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002645	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	70	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly201Glu	VAR_002645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002645	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	128	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly201Glu	VAR_002645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002645	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	139	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly201Glu	VAR_002645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002645	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	173	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly203Arg	VAR_002646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002646	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	72	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly203Arg	VAR_002646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002646	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	130	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly203Arg	VAR_002646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002646	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	141	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Gly203Arg	VAR_002646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002646	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	175	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met211Ile	VAR_002647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002647	- GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]	SWISS	80	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met211Ile	VAR_002647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002647	- GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]	SWISS	138	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met211Ile	VAR_002647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002647	- GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]	SWISS	149	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met211Ile	VAR_002647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002647	- GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]	SWISS	183	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met211Val	VAR_016903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016903	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	80	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met211Val	VAR_016903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016903	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	138	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met211Val	VAR_016903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016903	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	149	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met211Val	VAR_016903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016903	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	183	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met213Val	VAR_016904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016904	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	82	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met213Val	VAR_016904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016904	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	140	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met213Val	VAR_016904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016904	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	151	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met213Val	VAR_016904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016904	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	185	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met221Thr	VAR_016905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016905	- GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]	SWISS	91	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met221Thr	VAR_016905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016905	- GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]	SWISS	177	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met221Thr	VAR_016905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016905	- GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]	SWISS	159	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Met221Thr	VAR_016905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016905	- GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]	SWISS	193	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Lys224Arg	VAR_002648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002648	rs41298442 Dystonia type 5 (DYT5) [MIM:128230]	SWISS	94	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Lys224Arg	VAR_002648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002648	rs41298442 Dystonia type 5 (DYT5) [MIM:128230]	SWISS	180	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Lys224Arg	VAR_002648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002648	rs41298442 Dystonia type 5 (DYT5) [MIM:128230]	SWISS	162	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Lys224Arg	VAR_002648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002648	rs41298442 Dystonia type 5 (DYT5) [MIM:128230]	SWISS	196	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Lys224Arg	VAR_002648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002648	rs41298442 GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]	SWISS	94	pfam01227	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Lys224Arg	VAR_002648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002648	rs41298442 GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]	SWISS	180	cd00651	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Lys224Arg	VAR_002648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002648	rs41298442 GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]	SWISS	162	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Lys224Arg	VAR_002648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002648	rs41298442 GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]	SWISS	196	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Phe234Ser	VAR_002649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002649	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	172	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Phe234Ser	VAR_002649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002649	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	206	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg241Trp	VAR_016906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016906	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	179	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg241Trp	VAR_016906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016906	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	213	COG0302	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg249Ser	VAR_016907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016907	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	187	cd00642	4503949,NP_000152|66932968,NP_001019195
2643	399536	Disease	p.Arg249Ser	VAR_016907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016907	- Dystonia type 5 (DYT5) [MIM:128230]	SWISS	221	COG0302	4503949,NP_000152|66932968,NP_001019195
2645	547696	Disease	p.Arg36Trp	VAR_010584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010584	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	26	pfam00349	NULL
2645	547696	Disease	p.Arg36Trp	VAR_010584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010584	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	44	COG5026	NULL
2645	547696	Disease	p.Ala53Ser	VAR_010585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010585	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	45	pfam00349	NULL
2645	547696	Disease	p.Ala53Ser	VAR_010585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010585	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	61	COG5026	NULL
2645	547696	Disease	p.Glu70Lys	VAR_003693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003693	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	67	pfam00349	NULL
2645	547696	Disease	p.Glu70Lys	VAR_003693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003693	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	85	COG5026	NULL
2645	547696	Disease	p.Gly80Ala	VAR_003694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003694	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	77	pfam00349	NULL
2645	547696	Disease	p.Gly80Ala	VAR_003694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003694	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	95	COG5026	NULL
2645	547696	Disease	p.Gly80Ser	VAR_003695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003695	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	77	pfam00349	NULL
2645	547696	Disease	p.Gly80Ser	VAR_003695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003695	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	95	COG5026	NULL
2645	547696	Disease	p.Tyr108His	VAR_010586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010586	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	105	pfam00349	NULL
2645	547696	Disease	p.Tyr108His	VAR_010586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010586	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	119	COG5026	NULL
2645	547696	Disease	p.Ile110Thr	VAR_012352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012352	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	107	pfam00349	NULL
2645	547696	Disease	p.Ile110Thr	VAR_012352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012352	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	122	COG5026	NULL
2645	547696	Disease	p.Ala119Asp	VAR_012353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012353	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	123	pfam00349	NULL
2645	547696	Disease	p.Ala119Asp	VAR_012353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012353	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	134	COG5026	NULL
2645	547696	Disease	p.Ser131Pro	VAR_003697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003697	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	138	pfam00349	NULL
2645	547696	Disease	p.Ser131Pro	VAR_003697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003697	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	146	COG5026	NULL
2645	547696	Disease	p.His137Arg	VAR_010587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010587	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	144	pfam00349	NULL
2645	547696	Disease	p.His137Arg	VAR_010587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010587	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	154	COG5026	NULL
2645	547696	Disease	p.Phe150Ser	VAR_010588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010588	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	164	pfam00349	NULL
2645	547696	Disease	p.Phe150Ser	VAR_010588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010588	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	175	COG5026	NULL
2645	547696	Disease	p.Leu164Pro	VAR_012350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012350	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	178	pfam00349	NULL
2645	547696	Disease	p.Leu164Pro	VAR_012350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012350	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	193	COG5026	NULL
2645	547696	Disease	p.Thr168Pro	VAR_010589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010589	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	182	pfam00349	NULL
2645	547696	Disease	p.Thr168Pro	VAR_010589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010589	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	197	COG5026	NULL
2645	547696	Disease	p.Gly175Arg	VAR_003698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003698	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	194	pfam00349	NULL
2645	547696	Disease	p.Gly175Arg	VAR_003698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003698	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	205	COG5026	NULL
2645	547696	Disease	p.Val182Met	VAR_003699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003699	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	201	pfam00349	NULL
2645	547696	Disease	p.Val182Met	VAR_003699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003699	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	215	COG5026	NULL
2645	547696	Disease	p.Ala188Thr	VAR_003700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003700	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	207	pfam00349	NULL
2645	547696	Disease	p.Ala188Thr	VAR_003700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003700	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	221	COG5026	NULL
2645	547696	Disease	p.Val203Ala	VAR_003701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003701	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	222	pfam00349	NULL
2645	547696	Disease	p.Val203Ala	VAR_003701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003701	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	236	COG5026	NULL
2645	547696	Disease	p.Thr209Met	VAR_010590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010590	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	228	pfam00349	NULL
2645	547696	Disease	p.Thr209Met	VAR_010590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010590	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	242	COG5026	NULL
2645	547696	Disease	p.Met210Lys	VAR_012351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012351	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	229	pfam00349	NULL
2645	547696	Disease	p.Met210Lys	VAR_012351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012351	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	243	COG5026	NULL
2645	547696	Disease	p.Met210Thr	VAR_010591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010591	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	229	pfam00349	NULL
2645	547696	Disease	p.Met210Thr	VAR_010591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010591	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	243	COG5026	NULL
2645	547696	Disease	p.Cys213Arg	VAR_010592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010592	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	232	pfam00349	NULL
2645	547696	Disease	p.Cys213Arg	VAR_010592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010592	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	246	COG5026	NULL
2645	547696	Disease	p.Glu221Lys	VAR_003702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003702	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	3	pfam03727	NULL
2645	547696	Disease	p.Glu221Lys	VAR_003702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003702	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	265	COG5026	NULL
2645	547696	Disease	p.Val226Met	VAR_003703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003703	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	8	pfam03727	NULL
2645	547696	Disease	p.Val226Met	VAR_003703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003703	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	270	COG5026	NULL
2645	547696	Disease	p.Gly227Cys	VAR_003704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003704	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	9	pfam03727	NULL
2645	547696	Disease	p.Gly227Cys	VAR_003704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003704	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	271	COG5026	NULL
2645	547696	Disease	p.Thr228Met	VAR_003705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003705	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	10	pfam03727	NULL
2645	547696	Disease	p.Thr228Met	VAR_003705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003705	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	272	COG5026	NULL
2645	547696	Disease	p.Glu256Lys	VAR_003706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003706	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	47	pfam03727	NULL
2645	547696	Disease	p.Glu256Lys	VAR_003706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003706	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	309	COG5026	NULL
2645	547696	Disease	p.Trp257Arg	VAR_003707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003707	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	48	pfam03727	NULL
2645	547696	Disease	p.Trp257Arg	VAR_003707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003707	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	310	COG5026	NULL
2645	547696	Disease	p.Ala259Thr	VAR_010593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010593	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	50	pfam03727	NULL
2645	547696	Disease	p.Ala259Thr	VAR_010593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010593	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	312	COG5026	NULL
2645	547696	Disease	p.Gly261Glu	VAR_010594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010594	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	52	pfam03727	NULL
2645	547696	Disease	p.Gly261Glu	VAR_010594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010594	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	314	COG5026	NULL
2645	547696	Disease	p.Gly261Arg	VAR_003708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003708	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	52	pfam03727	NULL
2645	547696	Disease	p.Gly261Arg	VAR_003708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003708	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	314	COG5026	NULL
2645	547696	Disease	p.Glu279Gln	VAR_003709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003709	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	70	pfam03727	NULL
2645	547696	Disease	p.Glu279Gln	VAR_003709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003709	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	333	COG5026	NULL
2645	547696	Disease	p.Gly299Arg	VAR_003710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003710	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	91	pfam03727	NULL
2645	547696	Disease	p.Gly299Arg	VAR_003710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003710	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	354	COG5026	NULL
2645	547696	Disease	p.Glu300Lys	VAR_003712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003712	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	92	pfam03727	NULL
2645	547696	Disease	p.Glu300Lys	VAR_003712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003712	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	355	COG5026	NULL
2645	547696	Disease	p.Glu300Gln	VAR_003711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003711	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	92	pfam03727	NULL
2645	547696	Disease	p.Glu300Gln	VAR_003711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003711	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	355	COG5026	NULL
2645	547696	Disease	p.Leu309Pro	VAR_003713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003713	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	101	pfam03727	NULL
2645	547696	Disease	p.Leu309Pro	VAR_003713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003713	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	364	COG5026	NULL
2645	547696	Disease	p.Ser336Leu	VAR_010595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010595	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	133	pfam03727	NULL
2645	547696	Disease	p.Ser336Leu	VAR_010595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010595	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	396	COG5026	NULL
2645	547696	Disease	p.Val367Met	VAR_010596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010596	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	166	pfam03727	NULL
2645	547696	Disease	p.Val367Met	VAR_010596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010596	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	430	COG5026	NULL
2645	547696	Disease	p.Cys382Tyr	VAR_010597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010597	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	181	pfam03727	NULL
2645	547696	Disease	p.Cys382Tyr	VAR_010597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010597	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	445	COG5026	NULL
2645	547696	Disease	p.Ala384Thr	VAR_010598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010598	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	183	pfam03727	NULL
2645	547696	Disease	p.Ala384Thr	VAR_010598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010598	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	447	COG5026	NULL
2645	547696	Disease	p.Gly385Val	VAR_012354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012354	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	184	pfam03727	NULL
2645	547696	Disease	p.Gly385Val	VAR_012354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012354	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	448	COG5026	NULL
2645	547696	Disease	p.Arg392Cys	VAR_010599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010599	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	191	pfam03727	NULL
2645	547696	Disease	p.Arg392Cys	VAR_010599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010599	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	455	COG5026	NULL
2645	547696	Disease	p.Lys414Glu	VAR_003714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003714	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	213	pfam03727	NULL
2645	547696	Disease	p.Lys414Glu	VAR_003714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003714	- Maturity-onset diabetes of the young type 2 (MODY2) [MIM:125851]	SWISS	477	COG5026	NULL
2645	547696	Disease	p.Val455Met	VAR_003715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003715	- Familial hyperinsulinemic hypoglycemia type 3 (HHF3) [MIM:602485]	SWISS	263	pfam03727	NULL
2645	547696	Disease	p.Val455Met	VAR_003715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003715	- Familial hyperinsulinemic hypoglycemia type 3 (HHF3) [MIM:602485]	SWISS	526	COG5026	NULL
2729	1346190	Disease	p.Arg127Cys	VAR_021110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021110	- Hemolytic anemia [MIM:230450]	SWISS	No Domain	N/A	4557625,NP_001489
2729	1346190	Disease	p.Pro158Leu	VAR_015403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015403	- Hemolytic anemia [MIM:230450]	SWISS	No Domain	N/A	4557625,NP_001489
2729	1346190	Disease	p.His370Leu	VAR_013514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013514	- Hemolytic anemia [MIM:230450]	SWISS	157	pfam03074	4557625,NP_001489
9247	33301140	Disease	p.Arg47Leu	VAR_058044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058044	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	14	pfam03615	4758420,NP_004743
9247	33301140	Disease	p.Gly63Ser	VAR_058045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058045	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	30	pfam03615	4758420,NP_004743
54332	269849682	Disease	p.Arg120Gln	VAR_017184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017184	- Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400]	SWISS	126	COG0625	108773797,NP_061845
54332	269849682	Disease	p.Arg161His	VAR_017185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017185	- Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400]	SWISS	4	cd00299	108773797,NP_061845
54332	269849682	Disease	p.Arg161His	VAR_017185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017185	- Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400]	SWISS	177	COG0625	108773797,NP_061845
54332	269849682	Disease	p.Arg282Cys	VAR_017186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017186	rs28937906 Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400]	SWISS	185	cd00299	108773797,NP_061845
54332	269849682	Disease	p.Arg282Cys	VAR_017186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017186	rs28937906 Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400]	SWISS	113	cd03180	108773797,NP_061845
54332	269849682	Disease	p.Arg282Cys	VAR_017186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017186	rs28937906 Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400]	SWISS	127	cd03190	108773797,NP_061845
54332	269849682	Disease	p.Arg282Cys	VAR_017186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017186	rs28937906 Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400]	SWISS	114	cd03204	108773797,NP_061845
54332	269849682	Disease	p.Arg282Cys	VAR_017186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017186	rs28937906 Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400]	SWISS	300	COG0625	108773797,NP_061845
54332	269849682	Disease	p.Arg282Cys	VAR_017186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017186	rs28937906 Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400]	SWISS	129	cd03188	108773797,NP_061845
54332	269849682	Disease	p.Arg310Gln	VAR_017187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017187	- Charcot-Marie-Tooth disease axonal recessive with vocal cord paresis (CMT2RV) [MIM:607706]	SWISS	No Domain	N/A	108773797,NP_061845
8200	20141384	Disease	p.Met173Val	VAR_037978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037978	rs28936397 Brachydactyly type C (BDC) [MIM:113100]	SWISS	129	pfam00688	4503969,NP_000548
8200	20141384	Disease	p.Leu373Arg	VAR_054909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054909	- Symphalangism proximal syndrome (SYM1) [MIM:185800]	SWISS	No Domain	N/A	4503969,NP_000548
8200	20141384	Disease	p.Arg378Gln	VAR_054910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054910	- Du Pan syndrome (DPS) [MIM:228900]	SWISS	No Domain	N/A	4503969,NP_000548
8200	20141384	Disease	p.Arg380Gln	VAR_046743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046743	- Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	No Domain	N/A	4503969,NP_000548
8200	20141384	Disease	p.Cys400Tyr	VAR_017407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017407	- Acromesomelic chondrodysplasia Grebe type (AMDG) [MIM:200700]	SWISS	4	pfam00019	4503969,NP_000548
8200	20141384	Disease	p.Pro436Thr	VAR_054911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054911	- Du Pan syndrome (DPS) [MIM:228900]	SWISS	41	pfam00019	4503969,NP_000548
8200	20141384	Disease	p.Pro436Thr	VAR_054911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054911	- Du Pan syndrome (DPS) [MIM:228900]	SWISS	38	smart00204	4503969,NP_000548
8200	20141384	Disease	p.Arg438Leu	VAR_026545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026545	- Multiple synostoses syndrome type 2 (SYNS2) [MIM:610017]	SWISS	43	pfam00019	4503969,NP_000548
8200	20141384	Disease	p.Arg438Leu	VAR_026545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026545	- Multiple synostoses syndrome type 2 (SYNS2) [MIM:610017]	SWISS	40	smart00204	4503969,NP_000548
8200	20141384	Disease	p.Arg438Leu	VAR_026545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026545	- Symphalangism proximal syndrome (SYM1) [MIM:185800]	SWISS	43	pfam00019	4503969,NP_000548
8200	20141384	Disease	p.Arg438Leu	VAR_026545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026545	- Symphalangism proximal syndrome (SYM1) [MIM:185800]	SWISS	40	smart00204	4503969,NP_000548
8200	20141384	Disease	p.Ser439Thr	VAR_037980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037980	- Du Pan syndrome (DPS) [MIM:228900]	SWISS	44	pfam00019	4503969,NP_000548
8200	20141384	Disease	p.Ser439Thr	VAR_037980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037980	- Du Pan syndrome (DPS) [MIM:228900]	SWISS	41	smart00204	4503969,NP_000548
8200	20141384	Disease	p.His440Leu	VAR_037981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037981	- Du Pan syndrome (DPS) [MIM:228900]	SWISS	45	pfam00019	4503969,NP_000548
8200	20141384	Disease	p.His440Leu	VAR_037981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037981	- Du Pan syndrome (DPS) [MIM:228900]	SWISS	42	smart00204	4503969,NP_000548
8200	20141384	Disease	p.Leu441Pro	VAR_017408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017408	rs28936683 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	46	pfam00019	4503969,NP_000548
8200	20141384	Disease	p.Leu441Pro	VAR_017408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017408	rs28936683 Brachydactyly type A2 (BDA2) [MIM:112600]	SWISS	47	smart00204	4503969,NP_000548
8200	20141384	Disease	p.Leu441Pro	VAR_017408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017408	rs28936683 Du Pan syndrome (DPS) [MIM:228900]	SWISS	46	pfam00019	4503969,NP_000548
8200	20141384	Disease	p.Leu441Pro	VAR_017408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017408	rs28936683 Du Pan syndrome (DPS) [MIM:228900]	SWISS	47	smart00204	4503969,NP_000548
8200	20141384	Disease	p.Ser475Asn	VAR_037982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037982	- Multiple synostoses syndrome type 2 (SYNS2) [MIM:610017]	SWISS	88	pfam00019	4503969,NP_000548
8200	20141384	Disease	p.Ser475Asn	VAR_037982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037982	- Multiple synostoses syndrome type 2 (SYNS2) [MIM:610017]	SWISS	95	smart00204	4503969,NP_000548
8200	20141384	Disease	p.Glu491Lys	VAR_037983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037983	- Symphalangism proximal syndrome (SYM1) [MIM:185800]	SWISS	105	pfam00019	4503969,NP_000548
8200	20141384	Disease	p.Glu491Lys	VAR_037983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037983	- Symphalangism proximal syndrome (SYM1) [MIM:185800]	SWISS	113	smart00204	4503969,NP_000548
392255	74748876	Disease	p.Gly42Val	VAR_063024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063024	- Spondylocostal dysostosis type 4 (SCDO4) [MIM:122600]	SWISS	39	pfam00688	48475062,NP_001001557
392255	74748876	Disease	p.Gln119Arg	VAR_063025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063025	- Microphthalmia isolated type 4 (MCOP4) [MIM:613094]	SWISS	183	pfam00688	48475062,NP_001001557
392255	74748876	Disease	p.Asp216Gly	VAR_063026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063026	- Microphthalmia isolated type 4 (MCOP4) [MIM:613094]	SWISS	358	pfam00688	48475062,NP_001001557
392255	74748876	Disease	p.Ala249Glu	VAR_046903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046903	- A patient with Klippel-Feil syndrome (KFS)	SWISS	414	pfam00688	48475062,NP_001001557
392255	74748876	Disease	p.Ala249Glu	VAR_046903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046903	- Klippel-Feil syndrome (KFS) [MIM:118100]	SWISS	414	pfam00688	48475062,NP_001001557
392255	74748876	Disease	p.Ala249Glu	VAR_046903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046903	- Microphthalmia isolated type 4 (MCOP4) [MIM:613094]	SWISS	414	pfam00688	48475062,NP_001001557
392255	74748876	Disease	p.Gln253Leu	VAR_063027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063027	- Microphthalmia isolated type 4 (MCOP4) [MIM:613094]	SWISS	418	pfam00688	48475062,NP_001001557
392255	74748876	Disease	p.Leu289Pro	VAR_046904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046904	- A patient with Klippel-Feil syndrome (KFS)	SWISS	No Domain	N/A	48475062,NP_001001557
392255	74748876	Disease	p.Leu289Pro	VAR_046904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046904	- Klippel-Feil syndrome (KFS) [MIM:118100]	SWISS	No Domain	N/A	48475062,NP_001001557
392255	74748876	Disease	p.Pro327His	VAR_063028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063028	- Microphthalmia isolated type 4 (MCOP4) [MIM:613094]	SWISS	No Domain	N/A	48475062,NP_001001557
392255	74748876	Disease	p.Lys424Arg	VAR_063029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063029	- Spondylocostal dysostosis type 4 (SCDO4) [MIM:122600]	SWISS	90	smart00204	48475062,NP_001001557
392255	74748876	Disease	p.Lys424Arg	VAR_063029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063029	- Spondylocostal dysostosis type 4 (SCDO4) [MIM:122600]	SWISS	83	pfam00019	48475062,NP_001001557
2664	1707886	Disease	p.Leu92Pro	VAR_008130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008130	- Mental retardation X-linked type 41 (MRX41) [MIM:300104]	SWISS	123	COG5044	4503971,NP_001484
2664	1707886	Disease	p.Leu92Pro	VAR_008130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008130	- Mental retardation X-linked type 41 (MRX41) [MIM:300104]	SWISS	125	pfam00996	4503971,NP_001484
2664	1707886	Disease	p.Arg423Pro	VAR_008131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008131	- Mental retardation X-linked type 48 (MRX48) [MIM:300104]	SWISS	478	COG5044	4503971,NP_001484
2664	1707886	Disease	p.Arg423Pro	VAR_008131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008131	- Mental retardation X-linked type 48 (MRX48) [MIM:300104]	SWISS	478	pfam00996	4503971,NP_001484
2668	729567	Disease	p.Pro21Ser	VAR_009494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009494	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	4503975,NP_000505
2668	729567	Disease	p.Arg93Trp	VAR_009495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009495	rs36119840 Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	No Domain	N/A	4503975,NP_000505
2668	729567	Disease	p.Arg93Trp	VAR_009495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009495	rs36119840 Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	4503975,NP_000505
2668	729567	Disease	p.Asp150Asn	VAR_009496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009496	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	pfam00019	4503975,NP_000505
2668	729567	Disease	p.Thr154Ser	VAR_009497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009497	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	pfam00019	4503975,NP_000505
2668	729567	Disease	p.Ile211Met	VAR_018152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018152	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	4503975,NP_000505
2670	121135	Disease	p.Pro47Leu	VAR_017464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017464	rs57474185 Alexander disease (ALEXD) [MIM:203450]	SWISS	60	pfam04732	4503979,NP_002046
2670	121135	Disease	p.Leu76Phe	VAR_017465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017465	rs57120761 Alexander disease (ALEXD) [MIM:203450]	SWISS	9	pfam00038	4503979,NP_002046
2670	121135	Disease	p.Asn77Tyr	VAR_017466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017466	rs58732244 Alexander disease (ALEXD) [MIM:203450]	SWISS	10	pfam00038	4503979,NP_002046
2670	121135	Disease	p.Asp78Glu	VAR_017477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017477	- Alexander disease (ALEXD) [MIM:203450]	SWISS	11	pfam00038	4503979,NP_002046
2670	121135	Disease	p.Arg79Cys	VAR_017467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017467	rs59793293 Alexander disease (ALEXD) [MIM:203450]	SWISS	12	pfam00038	4503979,NP_002046
2670	121135	Disease	p.Arg79His	VAR_017468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017468	rs59285727 Alexander disease (ALEXD) [MIM:203450]	SWISS	12	pfam00038	4503979,NP_002046
2670	121135	Disease	p.Arg88Cys	VAR_017469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017469	rs61622935 Alexander disease (ALEXD) [MIM:203450]	SWISS	21	pfam00038	4503979,NP_002046
2670	121135	Disease	p.Arg88Ser	VAR_017470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017470	- Alexander disease (ALEXD) [MIM:203450]	SWISS	21	pfam00038	4503979,NP_002046
2670	121135	Disease	p.Glu223Gln	VAR_017478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017478	rs56679084 Alexander disease (ALEXD) [MIM:203450]	SWISS	217	pfam00038	4503979,NP_002046
2670	121135	Disease	p.Arg239Cys	VAR_017471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017471	rs58064122 Alexander disease (ALEXD) [MIM:203450]	SWISS	239	pfam00038	4503979,NP_002046
2670	121135	Disease	p.Arg239His	VAR_017472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017472	rs59565950 Alexander disease (ALEXD) [MIM:203450]	SWISS	239	pfam00038	4503979,NP_002046
2670	121135	Disease	p.Ala244Val	VAR_017473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017473	rs61497286 Alexander disease (ALEXD) [MIM:203450]	SWISS	244	pfam00038	4503979,NP_002046
2670	121135	Disease	p.Arg258Pro	VAR_017474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017474	rs61726468 Alexander disease (ALEXD) [MIM:203450]	SWISS	258	pfam00038	4503979,NP_002046
2670	121135	Disease	p.Glu362Asp	VAR_017475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017475	rs28932768 Alexander disease (ALEXD) [MIM:203450]	SWISS	369	pfam00038	4503979,NP_002046
2670	121135	Disease	p.Arg416Trp	VAR_017476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017476	- Alexander disease (ALEXD) [MIM:203450]	SWISS	No Domain	N/A	4503979,NP_002046
2671	218511915	Disease	p.Arg194His	VAR_063435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063435	- Mitochondrial progressive myopathy with congenital cataract hearing loss and developmental delay (MPMCHD) [MIM:613076]	SWISS	163	pfam04777	54112432,NP_005253
2671	218511915	Disease	p.Arg194His	VAR_063435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063435	- Mitochondrial progressive myopathy with congenital cataract hearing loss and developmental delay (MPMCHD) [MIM:613076]	SWISS	183	COG5054	54112432,NP_005253
2672	33860154	Disease	p.Asn382Ser	VAR_016212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016212	rs28936381 Neutropenia severe congenital autosomal dominant type 2 (SCN2) [MIM:613107]	SWISS	24	smart00355	187761351,NP_001120688|187761349,NP_001120687|71037377,NP_005254
2672	33860154	Disease	p.Asn382Ser	VAR_016212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016212	rs28936381 Neutropenia severe congenital autosomal dominant type 2 (SCN2) [MIM:613107]	SWISS	24	pfam00096	187761351,NP_001120688|187761349,NP_001120687|71037377,NP_005254
2672	33860154	Disease	p.Lys403Arg	VAR_016213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016213	rs28936382 Dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA) [MIM:607847]	SWISS	17	smart00355	187761351,NP_001120688|187761349,NP_001120687|71037377,NP_005254
2672	33860154	Disease	p.Lys403Arg	VAR_016213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016213	rs28936382 Dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA) [MIM:607847]	SWISS	14	pfam00096	187761351,NP_001120688|187761349,NP_001120687|71037377,NP_005254
85476	116241346	Disease	p.Asn174Ser	VAR_021512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021512	rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	154	cd04166	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	VAR_021512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021512	rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	191	cd01883	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	VAR_021512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021512	rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	194	cd01889	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	VAR_021512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021512	rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	135	cd01884	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	VAR_021512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021512	rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	124	cd04168	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	VAR_021512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021512	rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	160	cd01886	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	VAR_021512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021512	rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	177	cd00881	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	VAR_021512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021512	rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	179	cd04170	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	VAR_021512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021512	rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	137	COG1217	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	VAR_021512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021512	rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	211	pfam00009	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	VAR_021512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021512	rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	148	COG4108	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	VAR_021512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021512	rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	159	cd01890	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	VAR_021512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021512	rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	198	cd04167	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	VAR_021512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021512	rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	776	cd01885	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	VAR_021512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021512	rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	140	COG0481	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	VAR_021512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021512	rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	138	cd04169	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	VAR_021512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021512	rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	139	cd01891	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	VAR_021512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021512	rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	173	COG0480	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	VAR_021512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021512	rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	167	COG5256	18390331,NP_079272
85476	116241346	Disease	p.Asn174Ser	VAR_021512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021512	rs28939098 Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	745	cd01887	18390331,NP_079272
85476	116241346	Disease	p.Met496Arg	VAR_031901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031901	- Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	398	COG1217	18390331,NP_079272
85476	116241346	Disease	p.Met496Arg	VAR_031901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031901	- Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	464	COG4108	18390331,NP_079272
85476	116241346	Disease	p.Met496Arg	VAR_031901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031901	- Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	353	COG0481	18390331,NP_079272
85476	116241346	Disease	p.Met496Arg	VAR_031901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031901	- Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]	SWISS	824	COG0480	18390331,NP_079272
2677	84028279	Disease	p.Phe299Ser	VAR_032979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032979	- PXE-like disorder with multiple coagulation factor deficiency [MIM:610842]	SWISS	388	smart00752	21361163,NP_000812
2677	84028279	Disease	p.Phe299Ser	VAR_032979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032979	- PXE-like disorder with multiple coagulation factor deficiency [MIM:610842]	SWISS	244	pfam05090	21361163,NP_000812
2677	84028279	Disease	p.Leu394Arg	VAR_005781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005781	- Combined deficiency of vitamin K-dependent clotting factors type 1 (VKCFD1) [MIM:277450]	SWISS	376	pfam05090	21361163,NP_000812
2677	84028279	Disease	p.Arg476Cys	VAR_032980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032980	- PXE-like disorder with multiple coagulation factor deficiency [MIM:610842]	SWISS	462	pfam05090	21361163,NP_000812
2677	84028279	Disease	p.Arg476His	VAR_032981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032981	- PXE-like disorder with multiple coagulation factor deficiency [MIM:610842]	SWISS	462	pfam05090	21361163,NP_000812
2677	84028279	Disease	p.Arg485Pro	VAR_021826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021826	- Combined deficiency of vitamin K-dependent clotting factors type 1 (VKCFD1) [MIM:277450]	SWISS	471	pfam05090	21361163,NP_000812
2677	84028279	Disease	p.Trp493Ser	VAR_032982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032982	- PXE-like disorder with multiple coagulation factor deficiency [MIM:610842]	SWISS	479	pfam05090	21361163,NP_000812
2677	84028279	Disease	p.Trp501Ser	VAR_015218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015218	rs28928872 Combined deficiency of vitamin K-dependent clotting factors type 1 (VKCFD1) [MIM:277450]	SWISS	487	pfam05090	21361163,NP_000812
2677	84028279	Disease	p.Gly558Arg	VAR_032983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032983	- PXE-like disorder with multiple coagulation factor deficiency [MIM:610842]	SWISS	No Domain	N/A	21361163,NP_000812
2688	134703	Disease	p.Thr3Ala	VAR_011917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011917	rs2001345 Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]	SWISS	No Domain	N/A	13027812,NP_000506
2688	134703	Disease	p.Leu16Pro	VAR_015801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015801	- Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]	SWISS	No Domain	N/A	13027812,NP_000506
2688	134703	Disease	p.Asp37Asn	VAR_015802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015802	- Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]	SWISS	21	pfam00103	13027812,NP_000506
2688	134703	Disease	p.Arg42Cys	VAR_015803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015803	- Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]	SWISS	26	pfam00103	13027812,NP_000506
2688	134703	Disease	p.Thr53Ile	VAR_015804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015804	- Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]	SWISS	37	pfam00103	13027812,NP_000506
2688	134703	Disease	p.Lys67Arg	VAR_015805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015805	- Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]	SWISS	51	pfam00103	13027812,NP_000506
2688	134703	Disease	p.Asn73Asp	VAR_015806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015806	- Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]	SWISS	61	pfam00103	13027812,NP_000506
2688	134703	Disease	p.Ser97Phe	VAR_015807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015807	- Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]	SWISS	90	pfam00103	13027812,NP_000506
2688	134703	Disease	p.Glu100Lys	VAR_015808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015808	- Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]	SWISS	93	pfam00103	13027812,NP_000506
2688	134703	Disease	p.Arg103Cys	VAR_015809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015809	- Kowarski syndrome [MIM:262650]	SWISS	96	pfam00103	13027812,NP_000506
2688	134703	Disease	p.Gln117Leu	VAR_015810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015810	- Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]	SWISS	110	pfam00103	13027812,NP_000506
2688	134703	Disease	p.Ser134Cys	VAR_015811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015811	- Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]	SWISS	133	pfam00103	13027812,NP_000506
2688	134703	Disease	p.Ser134Arg	VAR_015812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015812	- Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]	SWISS	133	pfam00103	13027812,NP_000506
2688	134703	Disease	p.Asp138Gly	VAR_015813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015813	- Kowarski syndrome [MIM:262650]	SWISS	137	pfam00103	13027812,NP_000506
2688	134703	Disease	p.Thr201Ala	VAR_015814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015814	- Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]	SWISS	202	pfam00103	13027812,NP_000506
2688	134703	Disease	p.Arg209His	VAR_015815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015815	- Growth hormone deficiency isolated type 2 (IGHD2) [MIM:173100]	SWISS	210	pfam00103	13027812,NP_000506
2690	121180	Disease	p.Cys56Ser	VAR_018426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018426	- Laron dwarfism [MIM:262500]	SWISS	17	pfam09067	NULL
2690	121180	Disease	p.Ser58Leu	VAR_018427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018427	- Laron dwarfism [MIM:262500]	SWISS	19	pfam09067	NULL
2690	121180	Disease	p.Glu62Lys	VAR_002708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002708	- Short stature [MIM:604271]	SWISS	23	pfam09067	NULL
2690	121180	Disease	p.Trp68Arg	VAR_018428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018428	- Laron dwarfism [MIM:262500]	SWISS	29	pfam09067	NULL
2690	121180	Disease	p.Arg89Lys	VAR_002709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002709	- Laron dwarfism [MIM:262500]	SWISS	49	pfam09067	NULL
2690	121180	Disease	p.Phe114Ser	VAR_002710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002710	- Laron dwarfism [MIM:262500]	SWISS	76	pfam09067	NULL
2690	121180	Disease	p.Val143Ala	VAR_002711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002711	- Laron dwarfism [MIM:262500]	SWISS	108	pfam09067	NULL
2690	121180	Disease	p.Pro149Gln	VAR_018429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018429	- Laron dwarfism [MIM:262500]	SWISS	No Domain	N/A	NULL
2690	121180	Disease	p.Val162Asp	VAR_002712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002712	- Laron dwarfism [MIM:262500]	SWISS	17	smart00060	NULL
2690	121180	Disease	p.Val162Asp	VAR_002712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002712	- Laron dwarfism [MIM:262500]	SWISS	30	cd00063	NULL
2690	121180	Disease	p.Val162Ile	VAR_018430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018430	- Short stature [MIM:604271]	SWISS	17	smart00060	NULL
2690	121180	Disease	p.Val162Ile	VAR_018430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018430	- Short stature [MIM:604271]	SWISS	30	cd00063	NULL
2690	121180	Disease	p.Asp170His	VAR_002713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002713	- Laron dwarfism [MIM:262500]	SWISS	25	smart00060	NULL
2690	121180	Disease	p.Asp170His	VAR_002713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002713	- Laron dwarfism [MIM:262500]	SWISS	38	cd00063	NULL
2690	121180	Disease	p.Ile171Thr	VAR_018431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018431	- Laron dwarfism [MIM:262500]	SWISS	26	smart00060	NULL
2690	121180	Disease	p.Ile171Thr	VAR_018431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018431	- Laron dwarfism [MIM:262500]	SWISS	39	cd00063	NULL
2690	121180	Disease	p.Gln172Pro	VAR_018432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018432	- Laron dwarfism [MIM:262500]	SWISS	27	smart00060	NULL
2690	121180	Disease	p.Gln172Pro	VAR_018432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018432	- Laron dwarfism [MIM:262500]	SWISS	40	cd00063	NULL
2690	121180	Disease	p.Val173Gly	VAR_018433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018433	- Laron dwarfism [MIM:262500]	SWISS	28	smart00060	NULL
2690	121180	Disease	p.Val173Gly	VAR_018433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018433	- Laron dwarfism [MIM:262500]	SWISS	41	cd00063	NULL
2690	121180	Disease	p.Arg179Cys	VAR_002714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002714	- Laron dwarfism [MIM:262500]	SWISS	38	smart00060	NULL
2690	121180	Disease	p.Arg179Cys	VAR_002714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002714	- Laron dwarfism [MIM:262500]	SWISS	47	cd00063	NULL
2690	121180	Disease	p.Arg179Cys	VAR_002714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002714	- Short stature [MIM:604271]	SWISS	38	smart00060	NULL
2690	121180	Disease	p.Arg179Cys	VAR_002714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002714	- Short stature [MIM:604271]	SWISS	47	cd00063	NULL
2690	121180	Disease	p.Tyr226Cys	VAR_018434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018434	- Laron dwarfism [MIM:262500]	SWISS	175	smart00060	NULL
2690	121180	Disease	p.Tyr226Cys	VAR_018434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018434	- Laron dwarfism [MIM:262500]	SWISS	155	cd00063	NULL
2690	121180	Disease	p.Arg229Gly	VAR_002715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002715	- Laron dwarfism [MIM:262500]	SWISS	178	smart00060	NULL
2690	121180	Disease	p.Arg229Gly	VAR_002715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002715	- Laron dwarfism [MIM:262500]	SWISS	158	cd00063	NULL
2690	121180	Disease	p.Arg229His	VAR_013938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013938	rs6177 Short stature [MIM:604271]	SWISS	178	smart00060	NULL
2690	121180	Disease	p.Arg229His	VAR_013938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013938	rs6177 Short stature [MIM:604271]	SWISS	158	cd00063	NULL
2690	121180	Disease	p.Glu242Asp	VAR_002716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002716	rs45588036 Short stature [MIM:604271]	SWISS	177	cd00063	NULL
2690	121180	Disease	p.Ser244Ile	VAR_018435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018435	- Laron dwarfism [MIM:262500]	SWISS	179	cd00063	NULL
2690	121180	Disease	p.Asp262Asn	VAR_018436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018436	- Laron dwarfism [MIM:262500]	SWISS	No Domain	N/A	NULL
2690	121180	Disease	p.Cys440Phe	VAR_013939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013939	rs6182 Laron dwarfism [MIM:262500]	SWISS	No Domain	N/A	NULL
2692	3041685	Disease	p.Leu144His	VAR_015796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015796	- Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]	SWISS	20	pfam00002	58530851,NP_000814
2692	3041685	Disease	p.Ala176Val	VAR_015797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015797	- Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]	SWISS	54	pfam00002	58530851,NP_000814
2692	3041685	Disease	p.Ala222Glu	VAR_015798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015798	- Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]	SWISS	136	pfam00002	58530851,NP_000814
2692	3041685	Disease	p.Phe242Cys	VAR_015799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015799	- Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]	SWISS	162	pfam00002	58530851,NP_000814
2692	3041685	Disease	p.Lys329Glu	VAR_015800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015800	- Growth hormone deficiency isolated type 1B (IGHD1B) [MIM:612781]	SWISS	319	pfam00002	58530851,NP_000814
2693	2494998	Disease	p.Ala204Glu	VAR_032705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032705	- Short stature [MIM:604271]	SWISS	168	pfam00001	38455410,NP_940799
2693	2494998	Disease	p.Ala204Glu	VAR_032705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032705	- Short stature [MIM:604271]	SWISS	241	pfam10324	38455410,NP_940799
2694	62906845	Disease	p.Gln23Arg	VAR_022742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022742	rs35211634 Hereditary intrinsic factor deficiency (IFD) [MIM:261000]	SWISS	No Domain	N/A	32189398,NP_005133
2694	62906845	Disease	p.Ser46Leu	VAR_022743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022743	- Hereditary intrinsic factor deficiency (IFD) [MIM:261000]	SWISS	24	pfam01122	32189398,NP_005133
26058	74710467	Disease	p.Thr112Ala	VAR_044440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044440	- Parkinson disease type 11 (PARK11) [MIM:607688]	SWISS	No Domain	N/A	42476299,NP_056390|156766043,NP_001096616
26058	74710467	Disease	p.Ile278Val	VAR_044441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044441	- Parkinson disease type 11 (PARK11) [MIM:607688]	SWISS	No Domain	N/A	42476299,NP_056390|156766043,NP_001096616
26058	74710467	Disease	p.Ser335Thr	VAR_044442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044442	- Parkinson disease type 11 (PARK11) [MIM:607688]	SWISS	No Domain	N/A	42476299,NP_056390|156766043,NP_001096616
26058	74710467	Disease	p.Asn457Thr	VAR_044443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044443	- Parkinson disease type 11 (PARK11) [MIM:607688]	SWISS	No Domain	N/A	42476299,NP_056390|156766043,NP_001096616
26058	74710467	Disease	p.Asp606Glu	VAR_044445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044445	- Parkinson disease type 11 (PARK11) [MIM:607688]	SWISS	No Domain	N/A	42476299,NP_056390|156766043,NP_001096616
26058	74710467	Disease	p.Val1242Ile	VAR_044449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044449	- Parkinson disease type 11 (PARK11) [MIM:607688]	SWISS	No Domain	N/A	42476299,NP_056390|156766043,NP_001096616
2697	117706	Disease	p.Gly2Val	VAR_058990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058990	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	No Domain	N/A	4504001,NP_000156
2697	117706	Disease	p.Leu7Val	VAR_058991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058991	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	5	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Leu11Pro	VAR_058992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058992	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	9	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Tyr17Ser	VAR_015747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015747	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	16	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Ser18Pro	VAR_015748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015748	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	17	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Gly21Arg	VAR_015749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015749	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	20	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Gly22Glu	VAR_015750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015750	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	21	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Lys23Thr	VAR_015751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015751	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	22	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Ser27Pro	VAR_038356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038356	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	26	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Ile31Met	VAR_038357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038357	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	30	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Ala40Val	VAR_015752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015752	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	39	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Gln49Lys	VAR_015753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015753	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	48	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Gln49Lys	VAR_015753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015753	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	7	smart00037	4504001,NP_000156
2697	117706	Disease	p.Gln49Pro	VAR_058994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058994	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	48	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Gln49Pro	VAR_058994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058994	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	7	smart00037	4504001,NP_000156
2697	117706	Disease	p.Pro59His	VAR_058996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058996	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	58	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Pro59His	VAR_058996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058996	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	17	smart00037	4504001,NP_000156
2697	117706	Disease	p.Ser69Tyr	VAR_038358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038358	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	68	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Ser69Tyr	VAR_038358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038358	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	27	smart00037	4504001,NP_000156
2697	117706	Disease	p.Arg76Ser	VAR_015755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015755	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	75	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Leu90Val	VAR_015756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015756	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	99	pfam00029	4504001,NP_000156
2697	117706	Disease	p.His95Arg	VAR_058998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058998	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	108	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Val96Ala	VAR_058999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058999	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	109	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Val96Glu	VAR_059000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059000	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	109	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Val96Met	VAR_059001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059001	rs28931601 Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	109	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Tyr98Cys	VAR_015757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015757	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	111	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Lys102Asn	VAR_015758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015758	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	117	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Leu106Pro	VAR_059002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059002	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	121	pfam00029	4504001,NP_000156
2697	117706	Disease	p.Glu110Asp	VAR_059003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059003	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	No Domain	N/A	4504001,NP_000156
2697	117706	Disease	p.Leu113Pro	VAR_038359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038359	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	No Domain	N/A	4504001,NP_000156
2697	117706	Disease	p.Ile130Thr	VAR_015759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015759	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	No Domain	N/A	4504001,NP_000156
2697	117706	Disease	p.Lys134Glu	VAR_015760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015760	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	No Domain	N/A	4504001,NP_000156
2697	117706	Disease	p.Lys134Asn	VAR_038360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038360	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	No Domain	N/A	4504001,NP_000156
2697	117706	Disease	p.Gly138Arg	VAR_015761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015761	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	No Domain	N/A	4504001,NP_000156
2697	117706	Disease	p.Gly143Ser	VAR_038361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038361	rs28931600 Syndactyly type 3 (SDTY3) [MIM:186100]	SWISS	No Domain	N/A	4504001,NP_000156
2697	117706	Disease	p.Met147Thr	VAR_059004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059004	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	No Domain	N/A	4504001,NP_000156
2697	117706	Disease	p.Thr154Ala	VAR_059005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059005	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	No Domain	N/A	4504001,NP_000156
2697	117706	Disease	p.Thr154Asn	VAR_059006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059006	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	No Domain	N/A	4504001,NP_000156
2697	117706	Disease	p.His194Pro	VAR_059008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059008	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	36	pfam10582	4504001,NP_000156
2697	117706	Disease	p.Ser201Phe	VAR_059009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059009	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	44	pfam10582	4504001,NP_000156
2697	117706	Disease	p.Arg202His	VAR_015762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015762	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	45	pfam10582	4504001,NP_000156
2697	117706	Disease	p.Val216Leu	VAR_015763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015763	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	59	pfam10582	4504001,NP_000156
2697	117706	Disease	p.Ser220Tyr	VAR_059010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059010	- Autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]	SWISS	66	pfam10582	4504001,NP_000156
2697	117706	Disease	p.Arg362Gln	VAR_032924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032924	rs2227885 Hypoplastic left heart syndrome (HLHS) [MIM:241550]	SWISS	No Domain	N/A	4504001,NP_000156
2697	117706	Disease	p.Arg376Gln	VAR_032925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032925	- Hypoplastic left heart syndrome (HLHS) [MIM:241550]	SWISS	No Domain	N/A	4504001,NP_000156
2700	311033478	Disease	p.Phe32Leu	VAR_030021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030021	- Cataract zonular pulverulent cataract type 3 (CZP3) [MIM:601885]	SWISS	31	pfam00029	22779877,NP_068773
2700	311033478	Disease	p.Asn63Ser	VAR_009158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009158	- Cataract zonular pulverulent cataract type 3 (CZP3) [MIM:601885]	SWISS	62	pfam00029	22779877,NP_068773
2700	311033478	Disease	p.Asn63Ser	VAR_009158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009158	- Cataract zonular pulverulent cataract type 3 (CZP3) [MIM:601885]	SWISS	21	smart00037	22779877,NP_068773
2700	311033478	Disease	p.Arg76His	VAR_030023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030023	- Cataract zonular pulverulent cataract type 3 (CZP3) [MIM:601885]	SWISS	75	pfam00029	22779877,NP_068773
2700	311033478	Disease	p.Pro187Leu	VAR_023447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023447	- Cataract zonular pulverulent cataract type 3 (CZP3) [MIM:601885]	SWISS	35	pfam10582	22779877,NP_068773
2702	8928556	Disease	p.Pro88Ser	VAR_035013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035013	- Familial atrial standstill (FAS) [MIM:108770]	SWISS	87	pfam00029	6631083,NP_005257|32483412,NP_859054
2702	8928556	Disease	p.Ala96Ser	VAR_035014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035014	- Familial atrial standstill (FAS) [MIM:108770]	SWISS	109	pfam00029	6631083,NP_005257|32483412,NP_859054
2703	13124697	Disease	p.Val44Glu	VAR_038798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038798	- Cataract-microcornea syndrome [MIM:116150]	SWISS	43	pfam00029	55953076,NP_005258
2703	13124697	Disease	p.Val44Glu	VAR_038798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038798	- Cataract-microcornea syndrome [MIM:116150]	SWISS	2	smart00037	55953076,NP_005258
2703	13124697	Disease	p.Glu48Lys	VAR_038799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038799	- Cataract zonular pulverulent type 1 (CZP1) [MIM:116200]	SWISS	47	pfam00029	55953076,NP_005258
2703	13124697	Disease	p.Glu48Lys	VAR_038799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038799	- Cataract zonular pulverulent type 1 (CZP1) [MIM:116200]	SWISS	6	smart00037	55953076,NP_005258
2703	13124697	Disease	p.Val64Gly	VAR_037642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037642	- Cataract zonular pulverulent type 1 (CZP1) [MIM:116200]	SWISS	63	pfam00029	55953076,NP_005258
2703	13124697	Disease	p.Val64Gly	VAR_037642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037642	- Cataract zonular pulverulent type 1 (CZP1) [MIM:116200]	SWISS	22	smart00037	55953076,NP_005258
2703	13124697	Disease	p.Pro88Ser	VAR_002005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002005	- Cataract zonular pulverulent type 1 (CZP1) [MIM:116200]	SWISS	87	pfam00029	55953076,NP_005258
2703	13124697	Disease	p.Arg198Gln	VAR_038800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038800	- Cataract-microcornea syndrome [MIM:116150]	SWISS	45	pfam10582	55953076,NP_005258
2703	13124697	Disease	p.Ile247Met	VAR_038801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038801	- Cataract zonular pulverulent type 1 (CZP1) [MIM:116200]	SWISS	No Domain	N/A	55953076,NP_005258
2705	117688	Disease	p.Trp3Arg	VAR_002006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002006	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	2	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Trp3Ser	VAR_002007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002007	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	2	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Tyr7Cys	VAR_002008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002008	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	6	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Thr8Ile	VAR_029895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029895	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	7	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Thr8Pro	VAR_002009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002009	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	7	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Leu9Trp	VAR_029896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029896	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	8	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ser11Gly	VAR_002010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002010	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	10	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Gly12Ser	VAR_002011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002011	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	12	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val13Leu	VAR_002012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002012	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	13	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val13Met	VAR_002013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002013	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	13	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Asn14Lys	VAR_002014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002014	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	14	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg15Gln	VAR_002015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002015	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	15	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg15Trp	VAR_002016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002016	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	15	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.His16Pro	VAR_002017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002017	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	16	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ile20Ser	VAR_002018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002018	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	20	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Gly21Asp	VAR_002019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002019	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	21	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg22Gly	VAR_002020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002020	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	22	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg22Pro	VAR_002021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002021	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	22	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg22Gln	VAR_002022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002022	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	22	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val23Ala	VAR_002023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002023	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	23	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Trp24Cys	VAR_029898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029898	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	24	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Leu25Phe	VAR_002024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002024	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	25	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Leu25Pro	VAR_029899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029899	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	25	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ser26Leu	VAR_002025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002025	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	26	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ser26Trp	VAR_029900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029900	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	26	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ile28Asn	VAR_029901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029901	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	28	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ile28Thr	VAR_002026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002026	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	28	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Phe29Leu	VAR_002028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002028	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	29	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ile30Asn	VAR_002029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002029	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	30	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ile30Thr	VAR_029902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029902	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	30	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Met34Ile	VAR_029903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029903	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	34	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Met34Lys	VAR_029904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029904	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	34	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Met34Thr	VAR_002030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002030	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	34	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Met34Val	VAR_002031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002031	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	34	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val35Met	VAR_002032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002032	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	35	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val37Met	VAR_029905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029905	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	37	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val38Met	VAR_002033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002033	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	38	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ala39Pro	VAR_002034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002034	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	39	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ala39Val	VAR_002035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002035	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	39	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ala40Thr	VAR_029906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029906	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	40	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ala40Val	VAR_002036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002036	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	40	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Glu41Lys	VAR_002037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002037	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	41	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val43Met	VAR_002038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002038	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	2	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val43Met	VAR_002038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002038	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	43	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Trp44Leu	VAR_002039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002039	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	3	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Trp44Leu	VAR_002039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002039	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	44	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ser49Pro	VAR_029907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029907	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	8	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ser49Pro	VAR_029907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029907	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	49	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ser49Tyr	VAR_002040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002040	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	8	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ser49Tyr	VAR_002040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002040	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	49	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ser50Pro	VAR_002041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002041	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	9	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ser50Pro	VAR_002041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002041	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	50	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Cys53Ser	VAR_002042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002042	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	12	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Cys53Ser	VAR_002042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002042	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	53	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Thr55Ala	VAR_029908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029908	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	14	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Thr55Ala	VAR_029908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029908	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	55	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Thr55Ile	VAR_008137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008137	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	14	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Thr55Ile	VAR_008137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008137	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	55	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Thr55Arg	VAR_029909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029909	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	14	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Thr55Arg	VAR_029909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029909	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	55	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Leu56Phe	VAR_002043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002043	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	15	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Leu56Phe	VAR_002043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002043	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	56	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Gln57His	VAR_029910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029910	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	16	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Gln57His	VAR_029910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029910	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	57	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Gly59Cys	VAR_002045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002045	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	18	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Gly59Cys	VAR_002045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002045	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	59	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Gly59Arg	VAR_029911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029911	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	18	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Gly59Arg	VAR_029911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029911	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	59	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Cys60Phe	VAR_002046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002046	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	19	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Cys60Phe	VAR_002046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002046	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	60	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val63Ile	VAR_002047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002047	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	22	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val63Ile	VAR_002047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002047	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	63	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Cys64Phe	VAR_029912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029912	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	23	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Cys64Phe	VAR_029912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029912	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	64	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Cys64Ser	VAR_002048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002048	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	23	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Cys64Ser	VAR_002048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002048	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	64	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Tyr65Cys	VAR_002049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002049	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	24	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Tyr65Cys	VAR_002049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002049	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	65	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Tyr65His	VAR_012313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012313	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	24	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Tyr65His	VAR_012313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012313	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	65	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Phe69Leu	VAR_029913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029913	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	28	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Phe69Leu	VAR_029913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029913	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	69	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Pro70Ala	VAR_029914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029914	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	29	smart00037	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Pro70Ala	VAR_029914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029914	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	70	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg75Pro	VAR_002051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002051	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	75	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg75Gln	VAR_002052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002052	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	75	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg75Trp	VAR_002053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002053	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	75	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Trp77Ser	VAR_002054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002054	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	77	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Gln80Arg	VAR_002055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002055	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	80	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Leu81Phe	VAR_002056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002056	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	81	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Leu83Pro	VAR_002057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002057	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	83	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val84Ile	VAR_002058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002058	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	84	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ser85Cys	VAR_002059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002059	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	85	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ser85Phe	VAR_002060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002060	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	85	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Thr86Ala	VAR_002061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002061	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	86	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Thr86Asn	VAR_002062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002062	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	86	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Thr86Ser	VAR_002063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002063	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	86	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Pro87Ala	VAR_002064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002064	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	87	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Pro87Leu	VAR_002065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002065	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	87	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Pro87Ser	VAR_002066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002066	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	87	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Leu89Pro	VAR_002067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002067	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	99	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Leu90His	VAR_002068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002068	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	100	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Leu90Val	VAR_029915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029915	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	100	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val91Met	VAR_029916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029916	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	101	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Met93Val	VAR_002069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002069	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	103	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.His94Asp	VAR_029917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029917	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	108	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.His94Gln	VAR_002070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002070	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	108	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.His94Tyr	VAR_002071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002071	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	108	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val95Met	VAR_002072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002072	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	109	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.His100Tyr	VAR_002073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002073	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	114	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Glu102Gly	VAR_002074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002074	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	118	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Lys103Glu	VAR_002075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002075	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	119	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Lys104Thr	VAR_029919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029919	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	120	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg107Trp	VAR_002076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002076	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	123	pfam00029	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Leu108Pro	VAR_029920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029920	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val120Glu	VAR_008138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008138	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Lys124Asn	VAR_002078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002078	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val125Asp	VAR_029922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029922	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.His126Tyr	VAR_029923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029923	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ile127Met	VAR_029924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029924	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ile127Ser	VAR_029925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029925	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ser128Pro	VAR_002079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002079	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Thr130Ile	VAR_029926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029926	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Leu131Pro	VAR_029927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029927	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Trp133Cys	VAR_002080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002080	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Trp133Arg	VAR_002081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002081	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Tyr135Cys	VAR_002082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002082	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val136Ala	VAR_021611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021611	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ser138Asn	VAR_029928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029928	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val139Met	VAR_002083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002083	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Phe141Leu	VAR_002084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002084	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg142Glu	VAR_002085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002085	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg142Gln	VAR_029929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029929	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg142Trp	VAR_002086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002086	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Glu146Lys	VAR_029930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029930	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	2	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ala147Asp	VAR_029931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029931	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	3	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Phe149Ile	VAR_002088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002088	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	5	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Phe149Val	VAR_029932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029932	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	5	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Tyr151Ser	VAR_029933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029933	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	7	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Phe153Ser	VAR_029934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029934	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	9	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Leu156Phe	VAR_002089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002089	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	12	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Leu156Arg	VAR_002090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002090	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	12	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Tyr157Cys	VAR_002091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002091	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	13	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Pro158Ala	VAR_002092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002092	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	14	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Pro158Arg	VAR_002093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002093	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	14	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Pro158Ser	VAR_002094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002094	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	14	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Gly159Asp	VAR_029935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029935	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	15	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Gly159Ser	VAR_002095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002095	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	15	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Tyr160His	VAR_002096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002096	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	17	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ala161Pro	VAR_002097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002097	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	18	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg164Gln	VAR_002098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002098	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	21	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg164Trp	VAR_002099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002099	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	21	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Cys168Arg	VAR_021612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021612	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	25	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Cys168Tyr	VAR_029936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029936	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	25	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Pro172Ala	VAR_029937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029937	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	30	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Pro172Leu	VAR_002100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002100	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	30	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Pro172Arg	VAR_029938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029938	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	30	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Pro172Ser	VAR_002101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002101	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	30	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Cys173Arg	VAR_002102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002102	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	31	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val177Ala	VAR_029939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029939	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	39	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val177Glu	VAR_029940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029940	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	39	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Asp178Tyr	VAR_002104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002104	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	40	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Cys179Arg	VAR_002105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002105	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	41	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Phe180Leu	VAR_002106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002106	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	42	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Phe180Ser	VAR_029941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029941	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	42	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val181Ala	VAR_029942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029942	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	43	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val181Met	VAR_002107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002107	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	43	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ser182Thr	VAR_002108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002108	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	44	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg183Cys	VAR_002109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002109	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	45	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg183His	VAR_002110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002110	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	45	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg183Ser	VAR_002111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002111	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	45	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Pro184Leu	VAR_029943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029943	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	46	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Pro184Arg	VAR_002112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002112	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	46	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Glu186Lys	VAR_002114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002114	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	48	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Lys187Glu	VAR_002115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002115	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	49	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val189Gly	VAR_002116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002116	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	51	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val189Ile	VAR_002117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002117	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	51	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Thr191Ala	VAR_029944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029944	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	53	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Val192Phe	VAR_029945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029945	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	54	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Phe193Cys	VAR_002119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002119	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	55	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Phe193Leu	VAR_029946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029946	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	55	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Met194Val	VAR_002120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002120	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	56	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ser198Phe	VAR_002121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002121	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	60	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Gly199Arg	VAR_002122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002122	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	61	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Cys201Arg	VAR_002123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002123	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	66	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Cys201Tyr	VAR_029947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029947	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	66	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ile203Asn	VAR_002124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002124	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	68	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Leu204Phe	VAR_002125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002125	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	69	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Leu204Val	VAR_029948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029948	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	69	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Asn205Ile	VAR_029949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029949	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	70	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Asn205Ser	VAR_002126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002126	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	70	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Glu208Gly	VAR_029950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029950	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	73	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Glu208Lys	VAR_002127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002127	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	73	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Tyr211His	VAR_029952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029952	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	76	pfam10582	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Ile213Val	VAR_029953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029953	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg215Gln	VAR_029954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029954	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg215Trp	VAR_002129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002129	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg219Cys	VAR_002130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002130	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg219His	VAR_002131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002131	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg220Gly	VAR_002132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002132	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg230Cys	VAR_002133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002133	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg230Leu	VAR_002134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002134	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Phe235Cys	VAR_002135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002135	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg238His	VAR_002136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002136	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Leu239Ile	VAR_029955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029955	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Arg264Cys	VAR_029956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029956	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2705	117688	Disease	p.Cys280Gly	VAR_029957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029957	- Charcot-Marie-Tooth disease X-linked type 1 (CMTX1) [MIM:302800]	SWISS	No Domain	N/A	4504005,NP_000157|148233402,NP_001091111
2706	77416855	Disease	p.Gly12Arg	VAR_015453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015453	- Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]	SWISS	12	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Ser17Phe	VAR_015454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015454	rs28929485 Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]	SWISS	17	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Arg32His	VAR_023605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023605	- Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]	SWISS	32	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Val37Ile	VAR_002139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002139	- Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]	SWISS	37	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Trp44Cys	VAR_008709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008709	- Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]	SWISS	3	smart00037	42558283,NP_003995
2706	77416855	Disease	p.Trp44Cys	VAR_008709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008709	- Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]	SWISS	44	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Trp44Ser	VAR_032749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032749	- Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]	SWISS	3	smart00037	42558283,NP_003995
2706	77416855	Disease	p.Trp44Ser	VAR_032749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032749	- Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]	SWISS	44	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Asp46Glu	VAR_060798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060798	- Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]	SWISS	5	smart00037	42558283,NP_003995
2706	77416855	Disease	p.Asp46Glu	VAR_060798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060798	- Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]	SWISS	46	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Asp50Asn	VAR_015456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015456	rs28931594 Ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540]	SWISS	9	smart00037	42558283,NP_003995
2706	77416855	Disease	p.Asp50Asn	VAR_015456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015456	rs28931594 Ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540]	SWISS	50	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Asp50Asn	VAR_015456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015456	rs28931594 Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]	SWISS	9	smart00037	42558283,NP_003995
2706	77416855	Disease	p.Asp50Asn	VAR_015456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015456	rs28931594 Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]	SWISS	50	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Asp50Tyr	VAR_015935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015935	- Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]	SWISS	9	smart00037	42558283,NP_003995
2706	77416855	Disease	p.Asp50Tyr	VAR_015935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015935	- Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]	SWISS	50	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Asn54Lys	VAR_032750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032750	- Bart-Pumphrey syndrome (BPS) [MIM:149200]	SWISS	13	smart00037	42558283,NP_003995
2706	77416855	Disease	p.Asn54Lys	VAR_032750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032750	- Bart-Pumphrey syndrome (BPS) [MIM:149200]	SWISS	54	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Gly59Ala	VAR_009965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009965	- Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350]	SWISS	18	smart00037	42558283,NP_003995
2706	77416855	Disease	p.Gly59Ala	VAR_009965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009965	- Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350]	SWISS	59	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Gly59Ser	VAR_032751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032751	- Bart-Pumphrey syndrome (BPS) [MIM:149200]	SWISS	18	smart00037	42558283,NP_003995
2706	77416855	Disease	p.Gly59Ser	VAR_032751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032751	- Bart-Pumphrey syndrome (BPS) [MIM:149200]	SWISS	59	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Asp66His	VAR_008710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008710	- Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350]	SWISS	25	smart00037	42558283,NP_003995
2706	77416855	Disease	p.Asp66His	VAR_008710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008710	- Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350]	SWISS	66	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Asp66His	VAR_008710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008710	- Vohwinkel syndrome (VS) [MIM:124500]	SWISS	25	smart00037	42558283,NP_003995
2706	77416855	Disease	p.Asp66His	VAR_008710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008710	- Vohwinkel syndrome (VS) [MIM:124500]	SWISS	66	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.His73Arg	VAR_060799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060799	- Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350]	SWISS	32	smart00037	42558283,NP_003995
2706	77416855	Disease	p.His73Arg	VAR_060799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060799	- Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350]	SWISS	73	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Arg75Gln	VAR_015936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015936	- Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350]	SWISS	75	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Arg75Trp	VAR_002140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002140	- Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]	SWISS	75	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Arg75Trp	VAR_002140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002140	- Palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350]	SWISS	75	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Trp77Arg	VAR_002141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002141	- Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]	SWISS	77	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Leu79Pro	VAR_023607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023607	- Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]	SWISS	79	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Gln80Lys	VAR_023608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023608	- Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]	SWISS	80	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Val84Leu	VAR_002143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002143	- Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]	SWISS	84	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Val84Met	VAR_060800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060800	- Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]	SWISS	84	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Thr86Arg	VAR_015458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015458	- Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]	SWISS	86	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Leu90Pro	VAR_015937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015937	- Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]	SWISS	100	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Met93Ile	VAR_023609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023609	- Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]	SWISS	103	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Val95Met	VAR_002144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002144	- Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]	SWISS	109	pfam00029	42558283,NP_003995
2706	77416855	Disease	p.Ser113Arg	VAR_002145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002145	- Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]	SWISS	No Domain	N/A	42558283,NP_003995
2706	77416855	Disease	p.Glu129Lys	VAR_023611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023611	- Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]	SWISS	No Domain	N/A	42558283,NP_003995
2706	77416855	Disease	p.Arg143Gln	VAR_015940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015940	- Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]	SWISS	No Domain	N/A	42558283,NP_003995
2706	77416855	Disease	p.Arg143Trp	VAR_015460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015460	- Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]	SWISS	No Domain	N/A	42558283,NP_003995
2706	77416855	Disease	p.Asp159Val	VAR_015941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015941	rs28931592 Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]	SWISS	14	pfam10582	42558283,NP_003995
2706	77416855	Disease	p.Val178Ala	VAR_023613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023613	- Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]	SWISS	39	pfam10582	42558283,NP_003995
2706	77416855	Disease	p.Asp179Asn	VAR_032752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032752	rs28931595 Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]	SWISS	40	pfam10582	42558283,NP_003995
2706	77416855	Disease	p.Arg184Pro	VAR_015943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015943	- Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]	SWISS	45	pfam10582	42558283,NP_003995
2706	77416855	Disease	p.Arg184Gln	VAR_023614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023614	- Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]	SWISS	45	pfam10582	42558283,NP_003995
2706	77416855	Disease	p.Arg184Trp	VAR_009969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009969	- Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]	SWISS	45	pfam10582	42558283,NP_003995
2706	77416855	Disease	p.Ala197Ser	VAR_023615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023615	- Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]	SWISS	58	pfam10582	42558283,NP_003995
2706	77416855	Disease	p.Cys202Phe	VAR_015944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015944	- Deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]	SWISS	66	pfam10582	42558283,NP_003995
2706	77416855	Disease	p.Ile203Lys	VAR_023616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023616	- Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]	SWISS	67	pfam10582	42558283,NP_003995
2706	77416855	Disease	p.Leu214Pro	VAR_023617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023617	- Deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]	SWISS	No Domain	N/A	42558283,NP_003995
2707	6014758	Disease	p.Gly12Asp	VAR_002147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002147	- Erythrokeratodermia variabilis (EKV) [MIM:133200]	SWISS	12	pfam00029	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Gly12Arg	VAR_002148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002148	- Erythrokeratodermia variabilis (EKV) [MIM:133200]	SWISS	12	pfam00029	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Arg42Pro	VAR_015085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015085	- Erythrokeratodermia variabilis (EKV) [MIM:133200]	SWISS	42	pfam00029	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Cys86Ser	VAR_002149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002149	- Erythrokeratodermia variabilis (EKV) [MIM:133200]	SWISS	86	pfam00029	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Phe137Leu	VAR_015086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015086	- Erythrokeratodermia variabilis (EKV) [MIM:133200]	SWISS	No Domain	N/A	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Ile141Val	VAR_015087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015087	- Deafness autosomal dominant type 2B (DFNA2B) [MIM:612644]	SWISS	No Domain	N/A	54607056,NP_001005752|13128960,NP_076872
2707	6014758	Disease	p.Glu183Lys	VAR_002150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002150	- Deafness autosomal dominant type 2B (DFNA2B) [MIM:612644]	SWISS	48	pfam10582	54607056,NP_001005752|13128960,NP_076872
127534	12229761	Disease	p.Phe137Leu	VAR_010206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010206	- Erythrokeratodermia variabilis (EKV) [MIM:133200]	SWISS	No Domain	N/A	23397464,NP_694944
10804	34978349	Disease	p.Thr5Met	VAR_008711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008711	- Deafness autosomal dominant type 3B (DFNA3B) [MIM:612643]	SWISS	4	pfam00029	158966717,NP_001103691|40254837,NP_006774|159032020,NP_001103689|158966714,NP_001103690
10804	34978349	Disease	p.Gly11Arg	VAR_015696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015696	- Ectodermal dysplasia type 2 (ED2) [MIM:129500]	SWISS	10	pfam00029	158966717,NP_001103691|40254837,NP_006774|159032020,NP_001103689|158966714,NP_001103690
10804	34978349	Disease	p.Val37Glu	VAR_016838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016838	- Ectodermal dysplasia type 2 (ED2) [MIM:129500]	SWISS	37	pfam00029	158966717,NP_001103691|40254837,NP_006774|159032020,NP_001103689|158966714,NP_001103690
10804	34978349	Disease	p.Ala88Val	VAR_015697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015697	rs28937872 Ectodermal dysplasia type 2 (ED2) [MIM:129500]	SWISS	88	pfam00029	158966717,NP_001103691|40254837,NP_006774|159032020,NP_001103689|158966714,NP_001103690
57165	74744875	Disease	p.Ile36Met	VAR_063172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063172	- Spastic paraplegia autosomal recessive type 44 (SPG44) [MIM:613206]	SWISS	33	pfam00029	45439367,NP_065168
57165	74744875	Disease	p.Pro90Ser	VAR_023754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023754	- Leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804]	SWISS	87	pfam00029	45439367,NP_065168
57165	74744875	Disease	p.Tyr272Asp	VAR_023755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023755	- Leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804]	SWISS	57	pfam10582	45439367,NP_065168
57165	74744875	Disease	p.Met286Thr	VAR_023756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023756	- Leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804]	SWISS	74	pfam10582	45439367,NP_065168
2710	205830913	Disease	p.Asn294Asp	VAR_015433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015433	- GK deficiency (GKD) [MIM:307030]	SWISS	15	pfam02782	NULL
2710	205830913	Disease	p.Asn294Asp	VAR_015433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015433	- GK deficiency (GKD) [MIM:307030]	SWISS	353	COG1070	NULL
2710	205830913	Disease	p.Asn294Asp	VAR_015433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015433	- GK deficiency (GKD) [MIM:307030]	SWISS	344	COG1069	NULL
2710	205830913	Disease	p.Asn294Asp	VAR_015433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015433	- GK deficiency (GKD) [MIM:307030]	SWISS	408	COG0554	NULL
2710	205830913	Disease	p.Asp446Val	VAR_001377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001377	- GK deficiency (GKD) [MIM:307030]	SWISS	538	pfam02782	NULL
2710	205830913	Disease	p.Asp446Val	VAR_001377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001377	- GK deficiency (GKD) [MIM:307030]	SWISS	560	COG1070	NULL
2710	205830913	Disease	p.Asp446Val	VAR_001377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001377	- GK deficiency (GKD) [MIM:307030]	SWISS	524	COG1069	NULL
2710	205830913	Disease	p.Asp446Val	VAR_001377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001377	- GK deficiency (GKD) [MIM:307030]	SWISS	592	COG0554	NULL
2710	205830913	Disease	p.Trp509Arg	VAR_010138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010138	- GK deficiency (GKD) [MIM:307030]	SWISS	632	COG1070	NULL
2710	205830913	Disease	p.Trp509Arg	VAR_010138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010138	- GK deficiency (GKD) [MIM:307030]	SWISS	601	COG1069	NULL
2710	205830913	Disease	p.Trp509Arg	VAR_010138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010138	- GK deficiency (GKD) [MIM:307030]	SWISS	678	COG0554	NULL
2717	113499	Disease	p.Ala20Pro	VAR_012362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012362	- Fabry disease (FD) [MIM:301500]	SWISS	No Domain	N/A	4504009,NP_000160
2717	113499	Disease	p.Ala31Val	VAR_012363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012363	- Fabry disease (FD) [MIM:301500]	SWISS	9	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Leu32Pro	VAR_000431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000431	- Fabry disease (FD) [MIM:301500]	SWISS	10	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asn34Ser	VAR_000432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000432	rs28935192 Fabry disease (FD) [MIM:301500]	SWISS	24	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Gly35Arg	VAR_000433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000433	- Fabry disease (FD) [MIM:301500]	SWISS	25	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Pro40Leu	VAR_012364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012364	- Fabry disease (FD) [MIM:301500]	SWISS	45	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Pro40Ser	VAR_000434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000434	- Fabry disease (FD) [MIM:301500]	SWISS	45	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Met42Leu	VAR_062551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062551	- Fabry disease (FD) [MIM:301500]	SWISS	47	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Met42Val	VAR_012365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012365	- Fabry disease (FD) [MIM:301500]	SWISS	47	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Gly43Arg	VAR_062552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062552	- Fabry disease (FD) [MIM:301500]	SWISS	48	pfam02065	4504009,NP_000160
2717	113499	Disease	p.His46Pro	VAR_062553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062553	- Fabry disease (FD) [MIM:301500]	SWISS	51	pfam02065	4504009,NP_000160
2717	113499	Disease	p.His46Arg	VAR_012367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012367	- Fabry disease (FD) [MIM:301500]	SWISS	51	pfam02065	4504009,NP_000160
2717	113499	Disease	p.His46Tyr	VAR_012368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012368	- Fabry disease (FD) [MIM:301500]	SWISS	51	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Trp47Gly	VAR_012369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012369	- Fabry disease (FD) [MIM:301500]	SWISS	52	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Arg49Leu	VAR_000435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000435	- Fabry disease (FD) [MIM:301500]	SWISS	54	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Arg49Pro	VAR_012370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012370	- Fabry disease (FD) [MIM:301500]	SWISS	54	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Arg49Ser	VAR_012371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012371	- Fabry disease (FD) [MIM:301500]	SWISS	54	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Cys52Arg	VAR_000436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000436	- Fabry disease (FD) [MIM:301500]	SWISS	57	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Cys52Ser	VAR_000437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000437	- Fabry disease (FD) [MIM:301500]	SWISS	57	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Cys56Phe	VAR_000438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000438	- Fabry disease (FD) [MIM:301500]	SWISS	60_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Cys56Gly	VAR_000439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000439	rs28935193 Fabry disease (FD) [MIM:301500]	SWISS	60_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Cys56Tyr	VAR_012372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012372	- Fabry disease (FD) [MIM:301500]	SWISS	60_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Glu59Lys	VAR_000440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000440	- Fabry disease (FD) [MIM:301500]	SWISS	60_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ser65Thr	VAR_032290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032290	- Fabry disease (FD) [MIM:301500]	SWISS	60_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Glu66Gln	VAR_000441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000441	rs28935191 Fabry disease (FD) [MIM:301500]	SWISS	61	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Met72Val	VAR_000442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000442	- Fabry disease (FD) [MIM:301500]	SWISS	67	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Gly85Asp	VAR_000443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000443	- Fabry disease (FD) [MIM:301500]	SWISS	80	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Tyr86Cys	VAR_012373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012373	- Fabry disease (FD) [MIM:301500]	SWISS	81	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Leu89Pro	VAR_012374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012374	- Fabry disease (FD) [MIM:301500]	SWISS	84	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Leu89Arg	VAR_000444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000444	- Fabry disease (FD) [MIM:301500]	SWISS	84	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ile91Thr	VAR_012375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012375	- Fabry disease (FD) [MIM:301500]	SWISS	86	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asp92His	VAR_012376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012376	- Fabry disease (FD) [MIM:301500]	SWISS	87	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asp92Tyr	VAR_012377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012377	- Fabry disease (FD) [MIM:301500]	SWISS	87	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asp93Gly	VAR_012378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012378	- Fabry disease (FD) [MIM:301500]	SWISS	88	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asp93Asn	VAR_062554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062554	- Fabry disease (FD) [MIM:301500]	SWISS	88	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Cys94Ser	VAR_012379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012379	- Fabry disease (FD) [MIM:301500]	SWISS	89	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Cys94Tyr	VAR_012380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012380	- Fabry disease (FD) [MIM:301500]	SWISS	89	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Trp95Ser	VAR_012381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012381	- Fabry disease (FD) [MIM:301500]	SWISS	90	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ala97Val	VAR_012382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012382	- Fabry disease (FD) [MIM:301500]	SWISS	92	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Arg100Lys	VAR_000445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000445	- Fabry disease (FD) [MIM:301500]	SWISS	97	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Arg100Thr	VAR_012383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012383	- Fabry disease (FD) [MIM:301500]	SWISS	97	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Arg112Cys	VAR_000447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000447	- Fabry disease (FD) [MIM:301500]	SWISS	113	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Arg112His	VAR_000448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000448	- Fabry disease (FD) [MIM:301500]	SWISS	113	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Arg112Ser	VAR_062555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062555	- Fabry disease (FD) [MIM:301500]	SWISS	113	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Phe113Leu	VAR_012384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012384	- Fabry disease (FD) [MIM:301500]	SWISS	114	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Phe113Ser	VAR_012385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012385	- Fabry disease (FD) [MIM:301500]	SWISS	114	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Leu120Val	VAR_062556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062556	- Fabry disease (FD) [MIM:301500]	SWISS	124	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Gly128Glu	VAR_000450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000450	- Fabry disease (FD) [MIM:301500]	SWISS	140	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Leu131Pro	VAR_000451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000451	- Fabry disease (FD) [MIM:301500]	SWISS	143	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Tyr134Ser	VAR_012386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012386	- Fabry disease (FD) [MIM:301500]	SWISS	146	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ala135Val	VAR_062557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062557	- Fabry disease (FD) [MIM:301500]	SWISS	147	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Gly138Arg	VAR_012387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012387	- Fabry disease (FD) [MIM:301500]	SWISS	155	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Cys142Arg	VAR_012388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012388	- Fabry disease (FD) [MIM:301500]	SWISS	159	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Cys142Tyr	VAR_000452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000452	- Fabry disease (FD) [MIM:301500]	SWISS	159	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ala143Pro	VAR_000453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000453	- Fabry disease (FD) [MIM:301500]	SWISS	160	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ala143Thr	VAR_012389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012389	- Fabry disease (FD) [MIM:301500]	SWISS	160	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Gly144Val	VAR_000454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000454	- Fabry disease (FD) [MIM:301500]	SWISS	161	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Pro146Ser	VAR_000455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000455	rs28935194 Fabry disease (FD) [MIM:301500]	SWISS	163	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ser148Asn	VAR_012390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012390	- Fabry disease (FD) [MIM:301500]	SWISS	176	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ser148Arg	VAR_012391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012391	- Fabry disease (FD) [MIM:301500]	SWISS	176	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ala156Thr	VAR_000456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000456	rs28935195 Fabry disease (FD) [MIM:301500]	SWISS	200	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ala156Val	VAR_000457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000457	- Fabry disease (FD) [MIM:301500]	SWISS	200	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Trp162Cys	VAR_012392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012392	- Fabry disease (FD) [MIM:301500]	SWISS	206	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Trp162Arg	VAR_000458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000458	rs28935196 Fabry disease (FD) [MIM:301500]	SWISS	206	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Gly163Val	VAR_012393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012393	- Fabry disease (FD) [MIM:301500]	SWISS	207	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asp165Val	VAR_000459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000459	- Fabry disease (FD) [MIM:301500]	SWISS	209	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Leu166Val	VAR_000460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000460	- Fabry disease (FD) [MIM:301500]	SWISS	210	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asp170Val	VAR_012394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012394	- Fabry disease (FD) [MIM:301500]	SWISS	214	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Gly171Asp	VAR_062558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062558	- Fabry disease (FD) [MIM:301500]	SWISS	215	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Cys172Arg	VAR_012395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012395	- Fabry disease (FD) [MIM:301500]	SWISS	216	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Cys172Tyr	VAR_000461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000461	- Fabry disease (FD) [MIM:301500]	SWISS	216	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Gly183Asp	VAR_012396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012396	- Fabry disease (FD) [MIM:301500]	SWISS	238	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Met187Val	VAR_012397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012397	- Fabry disease (FD) [MIM:301500]	SWISS	246	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ser201Phe	VAR_062559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062559	- Fabry disease (FD) [MIM:301500]	SWISS	261	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Cys202Trp	VAR_000462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000462	rs28936082 Fabry disease (FD) [MIM:301500]	SWISS	262	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Cys202Tyr	VAR_012398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012398	- Fabry disease (FD) [MIM:301500]	SWISS	262	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Pro205Thr	VAR_000463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000463	- Fabry disease (FD) [MIM:301500]	SWISS	265	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asn215Ser	VAR_000464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000464	rs28935197 Fabry disease (FD) [MIM:301500]	SWISS	296	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Tyr216Asp	VAR_012400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012400	- Fabry disease (FD) [MIM:301500]	SWISS	297	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ile219Asn	VAR_000465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000465	- Fabry disease (FD) [MIM:301500]	SWISS	300	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ile219Thr	VAR_062560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062560	- Fabry disease (FD) [MIM:301500]	SWISS	300	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Cys223Gly	VAR_012401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012401	- Fabry disease (FD) [MIM:301500]	SWISS	320	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asn224Asp	VAR_000466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000466	- Fabry disease (FD) [MIM:301500]	SWISS	321	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asn224Ser	VAR_012402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012402	- Fabry disease (FD) [MIM:301500]	SWISS	321	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Trp226Arg	VAR_012403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012403	- Fabry disease (FD) [MIM:301500]	SWISS	323	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Arg227Gln	VAR_000467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000467	rs28935198 Fabry disease (FD) [MIM:301500]	SWISS	323_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ala230Thr	VAR_012404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012404	- Fabry disease (FD) [MIM:301500]	SWISS	323_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asp231Asn	VAR_000468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000468	- Fabry disease (FD) [MIM:301500]	SWISS	323_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asp234Glu	VAR_062561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062561	- Fabry disease (FD) [MIM:301500]	SWISS	323_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ser235Cys	VAR_012405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012405	- Fabry disease (FD) [MIM:301500]	SWISS	323_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Trp236Cys	VAR_012406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012406	- Fabry disease (FD) [MIM:301500]	SWISS	323_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Trp236Leu	VAR_012407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012407	- Fabry disease (FD) [MIM:301500]	SWISS	323_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ile242Asn	VAR_012408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012408	- Fabry disease (FD) [MIM:301500]	SWISS	331	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asp244His	VAR_012409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012409	- Fabry disease (FD) [MIM:301500]	SWISS	333	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asp244Asn	VAR_000469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000469	- Fabry disease (FD) [MIM:301500]	SWISS	333	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Gly258Arg	VAR_012410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012410	- Fabry disease (FD) [MIM:301500]	SWISS	344_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Pro259Leu	VAR_012411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012411	- Fabry disease (FD) [MIM:301500]	SWISS	344_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Pro259Arg	VAR_012412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012412	- Fabry disease (FD) [MIM:301500]	SWISS	344_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Gly260Ala	VAR_012413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012413	- Fabry disease (FD) [MIM:301500]	SWISS	345	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Gly261Asp	VAR_012414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012414	- Fabry disease (FD) [MIM:301500]	SWISS	346	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asn263Ser	VAR_012415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012415	- Fabry disease (FD) [MIM:301500]	SWISS	348	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asp264Val	VAR_000471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000471	rs28935486 Fabry disease (FD) [MIM:301500]	SWISS	348_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asp264Tyr	VAR_062562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062562	- Fabry disease (FD) [MIM:301500]	SWISS	348_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Pro265Arg	VAR_012416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012416	- Fabry disease (FD) [MIM:301500]	SWISS	348_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asp266His	VAR_032291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032291	- Fabry disease (FD) [MIM:301500]	SWISS	348_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asp266Asn	VAR_012418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012418	- Fabry disease (FD) [MIM:301500]	SWISS	348_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asp266Val	VAR_000472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000472	rs28935487 Fabry disease (FD) [MIM:301500]	SWISS	348_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Met267Ile	VAR_012419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012419	- Fabry disease (FD) [MIM:301500]	SWISS	348_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Val269Ala	VAR_000473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000473	rs28935488 Fabry disease (FD) [MIM:301500]	SWISS	348_G	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asn272Lys	VAR_000474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000474	- Fabry disease (FD) [MIM:301500]	SWISS	350	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asn272Ser	VAR_032292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032292	rs28935495 Fabry disease (FD) [MIM:301500]	SWISS	350	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ser276Gly	VAR_062563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062563	- Fabry disease (FD) [MIM:301500]	SWISS	354	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Gln279Glu	VAR_000475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000475	rs28935485 Fabry disease (FD) [MIM:301500]	SWISS	366	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Gln279His	VAR_012420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012420	- Fabry disease (FD) [MIM:301500]	SWISS	366	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Gln280His	VAR_012421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012421	- Fabry disease (FD) [MIM:301500]	SWISS	367	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Met284Thr	VAR_000476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000476	- Fabry disease (FD) [MIM:301500]	SWISS	371	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ala285Pro	VAR_062564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062564	- Fabry disease (FD) [MIM:301500]	SWISS	372	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Trp287Cys	VAR_012422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012422	- Fabry disease (FD) [MIM:301500]	SWISS	374	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Trp287Gly	VAR_012423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012423	- Fabry disease (FD) [MIM:301500]	SWISS	374	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ala288Asp	VAR_000477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000477	- Fabry disease (FD) [MIM:301500]	SWISS	375	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ile289Phe	VAR_012424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012424	- Fabry disease (FD) [MIM:301500]	SWISS	376	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Met296Ile	VAR_012425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012425	- Fabry disease (FD) [MIM:301500]	SWISS	383	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Met296Val	VAR_000478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000478	- Fabry disease (FD) [MIM:301500]	SWISS	383	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Ser297Phe	VAR_000479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000479	rs28935489 Fabry disease (FD) [MIM:301500]	SWISS	389	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asn298His	VAR_012426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012426	- Fabry disease (FD) [MIM:301500]	SWISS	390	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asn298Lys	VAR_000480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000480	- Fabry disease (FD) [MIM:301500]	SWISS	390	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asn298Ser	VAR_012427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012427	- Fabry disease (FD) [MIM:301500]	SWISS	390	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Leu300Phe	VAR_062565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062565	- Fabry disease (FD) [MIM:301500]	SWISS	392	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Arg301Gln	VAR_000481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000481	- Fabry disease (FD) [MIM:301500]	SWISS	393	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asp313Tyr	VAR_000482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000482	rs28935490 Fabry disease (FD) [MIM:301500]	SWISS	407	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Val316Glu	VAR_000483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000483	- Fabry disease (FD) [MIM:301500]	SWISS	410	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asn320Lys	VAR_012430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012430	- Fabry disease (FD) [MIM:301500]	SWISS	415	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Asn320Tyr	VAR_012431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012431	- Fabry disease (FD) [MIM:301500]	SWISS	415	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Gln321Glu	VAR_012432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012432	- Fabry disease (FD) [MIM:301500]	SWISS	416	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Gln327Lys	VAR_000484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000484	rs28935491 Fabry disease (FD) [MIM:301500]	SWISS	422	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Gly328Ala	VAR_000486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000486	rs28935492 Fabry disease (FD) [MIM:301500]	SWISS	423	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Gly328Arg	VAR_000485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000485	- Fabry disease (FD) [MIM:301500]	SWISS	423	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Gly328Val	VAR_062566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062566	- Fabry disease (FD) [MIM:301500]	SWISS	423	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Glu338Lys	VAR_062567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062567	- Fabry disease (FD) [MIM:301500]	SWISS	433	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Trp340Arg	VAR_012433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012433	- Fabry disease (FD) [MIM:301500]	SWISS	444	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Glu341Lys	VAR_012434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012434	- Fabry disease (FD) [MIM:301500]	SWISS	445	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Arg342Gln	VAR_000487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000487	rs28935493 Fabry disease (FD) [MIM:301500]	SWISS	446	pfam02065	4504009,NP_000160
2717	113499	Disease	p.Arg356Gln	VAR_062568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062568	- Fabry disease (FD) [MIM:301500]	SWISS	No Domain	N/A	4504009,NP_000160
2717	113499	Disease	p.Arg356Trp	VAR_000488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000488	- Fabry disease (FD) [MIM:301500]	SWISS	No Domain	N/A	4504009,NP_000160
2717	113499	Disease	p.Glu358Ala	VAR_062569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062569	- Fabry disease (FD) [MIM:301500]	SWISS	No Domain	N/A	4504009,NP_000160
2717	113499	Disease	p.Glu358Lys	VAR_000489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000489	- Fabry disease (FD) [MIM:301500]	SWISS	No Domain	N/A	4504009,NP_000160
2717	113499	Disease	p.Gly360Cys	VAR_062570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062570	- Fabry disease (FD) [MIM:301500]	SWISS	No Domain	N/A	4504009,NP_000160
2717	113499	Disease	p.Gly361Arg	VAR_000491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000491	rs28935494 Fabry disease (FD) [MIM:301500]	SWISS	No Domain	N/A	4504009,NP_000160
2717	113499	Disease	p.Arg363His	VAR_012435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012435	- Fabry disease (FD) [MIM:301500]	SWISS	No Domain	N/A	4504009,NP_000160
2717	113499	Disease	p.Gly373Asp	VAR_012436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012436	- Fabry disease (FD) [MIM:301500]	SWISS	No Domain	N/A	4504009,NP_000160
2717	113499	Disease	p.Gly373Ser	VAR_012437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012437	- Fabry disease (FD) [MIM:301500]	SWISS	No Domain	N/A	4504009,NP_000160
2717	113499	Disease	p.Ala377Asp	VAR_012438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012438	- Fabry disease (FD) [MIM:301500]	SWISS	No Domain	N/A	4504009,NP_000160
2717	113499	Disease	p.Cys378Tyr	VAR_012439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012439	- Fabry disease (FD) [MIM:301500]	SWISS	No Domain	N/A	4504009,NP_000160
2717	113499	Disease	p.Pro409Ala	VAR_012440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012440	- Fabry disease (FD) [MIM:301500]	SWISS	No Domain	N/A	4504009,NP_000160
2717	113499	Disease	p.Pro409Thr	VAR_012441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012441	- Fabry disease (FD) [MIM:301500]	SWISS	No Domain	N/A	4504009,NP_000160
2717	113499	Disease	p.Thr410Ala	VAR_032293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032293	- Fabry disease (FD) [MIM:301500]	SWISS	No Domain	N/A	4504009,NP_000160
2717	113499	Disease	p.Leu414Ser	VAR_062571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062571	- Fabry disease (FD) [MIM:301500]	SWISS	No Domain	N/A	4504009,NP_000160
2720	215273939	Disease	p.Pro10Leu	VAR_008671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008671	rs7637099 GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	No Domain	N/A	119372308,NP_000395
2720	215273939	Disease	p.Arg49Cys	VAR_003329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003329	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	16	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg49Cys	VAR_003329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003329	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	10	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Arg49His	VAR_062340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062340	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	16	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg49His	VAR_062340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062340	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	10	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Ile51Thr	VAR_003330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003330	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	18	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Ile51Thr	VAR_003330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003330	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	12	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Arg59Cys	VAR_026129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026129	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	38	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg59Cys	VAR_026129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026129	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	20	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Arg59His	VAR_008672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008672	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	38	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg59His	VAR_008672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008672	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	20	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Arg68Gln	VAR_062341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062341	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	17	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Arg68Gln	VAR_062341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062341	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	49	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg68Gln	VAR_062341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062341	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	30	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Arg68Trp	VAR_026130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026130	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	17	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Arg68Trp	VAR_026130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026130	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	49	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg68Trp	VAR_026130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026130	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	30	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Lys73Glu	VAR_062342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062342	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	22	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Lys73Glu	VAR_062342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062342	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	54	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Lys73Glu	VAR_062342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062342	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	35	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Thr82Met	VAR_008673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008673	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	32	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Thr82Met	VAR_008673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008673	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	63	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Thr82Met	VAR_008673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008673	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	44	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Tyr83Cys	VAR_062343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062343	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	33	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Tyr83Cys	VAR_062343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062343	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	65	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Tyr83Cys	VAR_062343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062343	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	45	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Tyr83His	VAR_008674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008674	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	33	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Tyr83His	VAR_008674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008674	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	65	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Tyr83His	VAR_008674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008674	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	45	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Arg121Ser	VAR_008675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008675	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	75	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Arg121Ser	VAR_008675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008675	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	107	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg121Ser	VAR_008675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008675	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	86	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Gly123Arg	VAR_003331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003331	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	77	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Gly123Arg	VAR_003331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003331	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	109	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Gly123Arg	VAR_003331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003331	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	88	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Met132Thr	VAR_062344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062344	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	86	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Met132Thr	VAR_062344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062344	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	127	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Met132Thr	VAR_062344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062344	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	99	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Gly134Val	VAR_037937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037937	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	88	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Gly134Val	VAR_037937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037937	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	129	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Gly134Val	VAR_037937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037937	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	101	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Pro136Ser	VAR_062345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062345	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	90	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Pro136Ser	VAR_062345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062345	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	138	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Pro136Ser	VAR_062345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062345	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	103	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Arg148Cys	VAR_062346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062346	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	107	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Arg148Cys	VAR_062346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062346	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	150	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg148Cys	VAR_062346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062346	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	116	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Arg148Ser	VAR_013541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013541	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	107	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Arg148Ser	VAR_013541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013541	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	150	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg148Ser	VAR_013541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013541	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	116	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Ser149Phe	VAR_062347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062347	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	125	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Ser149Phe	VAR_062347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062347	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	151	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Ser149Phe	VAR_062347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062347	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	117	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Asp151Val	VAR_062348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062348	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	127	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Asp151Val	VAR_062348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062348	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	162	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Asp151Val	VAR_062348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062348	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	119	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Asp151Tyr	VAR_026131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026131	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	127	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Asp151Tyr	VAR_026131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026131	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	162	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Asp151Tyr	VAR_026131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026131	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	119	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Leu155Arg	VAR_037939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037939	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	131	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Leu155Arg	VAR_037939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037939	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	170	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Leu155Arg	VAR_037939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037939	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	124	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Leu155Arg	VAR_037939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037939	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	131	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Leu155Arg	VAR_037939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037939	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	170	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Leu155Arg	VAR_037939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037939	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	124	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Leu162Ser	VAR_037940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037940	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	138	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Leu162Ser	VAR_037940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037940	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	177	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Leu162Ser	VAR_037940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037940	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	131	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Leu173Pro	VAR_062349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062349	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	149	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Leu173Pro	VAR_062349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062349	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	190	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Leu173Pro	VAR_062349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062349	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	144	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Gln184Arg	VAR_062350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062350	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	160	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Gln184Arg	VAR_062350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062350	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	202	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Gln184Arg	VAR_062350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062350	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	156	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Gly190Asp	VAR_062351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062351	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	166	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Gly190Asp	VAR_062351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062351	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	228	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Gly190Asp	VAR_062351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062351	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	162	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Asp198Tyr	VAR_062352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062352	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	178	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Asp198Tyr	VAR_062352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062352	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	244	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Asp198Tyr	VAR_062352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062352	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	174	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Tyr199Cys	VAR_062353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062353	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	179	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Tyr199Cys	VAR_062353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062353	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	245	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Tyr199Cys	VAR_062353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062353	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	175	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Arg201Cys	VAR_003332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003332	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	181	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Arg201Cys	VAR_003332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003332	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	245_G	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg201Cys	VAR_003332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003332	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	177	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Arg201Cys	VAR_003332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003332	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	181	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Arg201Cys	VAR_003332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003332	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	245_G	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg201Cys	VAR_003332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003332	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	177	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Arg201His	VAR_013542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013542	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	181	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Arg201His	VAR_013542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013542	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	245_G	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg201His	VAR_013542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013542	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	177	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Arg208Cys	VAR_008676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008676	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	215	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Arg208Cys	VAR_008676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008676	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	251	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg208Cys	VAR_008676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008676	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	185	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Asp214Tyr	VAR_013543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013543	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	266	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Asp214Tyr	VAR_013543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013543	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	266	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Asp214Tyr	VAR_013543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013543	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	191	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Val216Ala	VAR_013544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013544	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	268	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Val216Ala	VAR_013544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013544	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	270	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Val216Ala	VAR_013544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013544	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	193	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Thr239Met	VAR_026132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026132	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	313	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Thr239Met	VAR_026132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026132	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	300	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Thr239Met	VAR_026132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026132	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	222	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Val240Met	VAR_008677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008677	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	314	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Val240Met	VAR_008677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008677	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	301	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Val240Met	VAR_008677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008677	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	223	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Gln255His	VAR_062354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062354	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	345	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Gln255His	VAR_062354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062354	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	322	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Gln255His	VAR_062354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062354	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	245	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Pro263Ser	VAR_013545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013545	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	359	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Pro263Ser	VAR_013545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013545	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	337	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Pro263Ser	VAR_013545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013545	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	262	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Leu264Ser	VAR_062355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062355	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	360	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Leu264Ser	VAR_062355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062355	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	338	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Leu264Ser	VAR_062355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062355	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	263	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Asn266Ser	VAR_013546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013546	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	362	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Asn266Ser	VAR_013546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013546	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	340	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Asn266Ser	VAR_013546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013546	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	265	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Tyr270Asp	VAR_013547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013547	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	366	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Tyr270Asp	VAR_013547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013547	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	344	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Tyr270Asp	VAR_013547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013547	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	269	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Gly272Asp	VAR_038346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038346	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	368	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Gly272Asp	VAR_038346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038346	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	346	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Gly272Asp	VAR_038346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038346	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	271	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Trp273Leu	VAR_003333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003333	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	369	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Trp273Leu	VAR_003333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003333	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	347	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Trp273Leu	VAR_003333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003333	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	272	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.His281Tyr	VAR_013548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013548	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	395	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.His281Tyr	VAR_013548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013548	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	368	COG1874	119372308,NP_000395
2720	215273939	Disease	p.His281Tyr	VAR_013548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013548	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	285	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.His281Tyr	VAR_013548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013548	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	395	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.His281Tyr	VAR_013548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013548	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	368	COG1874	119372308,NP_000395
2720	215273939	Disease	p.His281Tyr	VAR_013548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013548	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	285	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Tyr316Cys	VAR_003334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003334	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	436	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Tyr316Cys	VAR_003334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003334	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	436	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Tyr316Cys	VAR_003334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003334	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	328	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Asn318His	VAR_062356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062356	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	438	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Asn318His	VAR_062356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062356	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	438	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Asn318His	VAR_062356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062356	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	330	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Thr329Ile	VAR_062357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062357	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	440_G	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Thr329Ile	VAR_062357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062357	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	455	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Thr329Ile	VAR_062357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062357	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	347	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Asp332Glu	VAR_062358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062358	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	440_G	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Asp332Glu	VAR_062358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062358	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	458	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Asp332Glu	VAR_062358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062358	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	350	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Asp332Asn	VAR_013549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013549	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	440_G	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Asp332Asn	VAR_013549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013549	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	458	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Asp332Asn	VAR_013549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013549	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	350	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Tyr333His	VAR_062359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062359	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	440_G	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Tyr333His	VAR_062359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062359	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	459	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Tyr333His	VAR_062359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062359	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	351	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Lys346Asn	VAR_062360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062360	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	451	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Lys346Asn	VAR_062360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062360	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	482	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Lys346Asn	VAR_062360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062360	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	365	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Tyr347Cys	VAR_062361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062361	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	452	pfam02449	119372308,NP_000395
2720	215273939	Disease	p.Tyr347Cys	VAR_062361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062361	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	483	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Tyr347Cys	VAR_062361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062361	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	366	pfam01301	119372308,NP_000395
2720	215273939	Disease	p.Pro397Ala	VAR_062362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062362	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	580	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Gln408Pro	VAR_013550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013550	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	600	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Thr420Lys	VAR_062363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062363	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	622	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Thr420Pro	VAR_062364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062364	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	622	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Leu422Arg	VAR_062365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062365	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	624	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Gly438Glu	VAR_013551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013551	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	663	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Gly438Glu	VAR_013551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013551	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	663	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Asp441Asn	VAR_062366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062366	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	666	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg442Gln	VAR_062367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062367	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	667	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Tyr444Cys	VAR_062368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062368	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	669	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg457Gln	VAR_003335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003335	- GM1-gangliosidosis type 3 (GM1G3) [MIM:230650]	SWISS	694	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg482Cys	VAR_008678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008678	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	734	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg482His	VAR_003336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003336	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	734	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg482His	VAR_003336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003336	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	734	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Asn484Lys	VAR_013552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013552	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	738	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Asp491Asn	VAR_008679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008679	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	758	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Asp491Tyr	VAR_037943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037943	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	758	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Gly494Cys	VAR_013553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013553	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	761	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Gly494Ser	VAR_062369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062369	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	761	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Thr500Ala	VAR_013554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013554	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	768	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Trp509Cys	VAR_003337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003337	- Mucopolysaccharidosis type 4B (MPS4B) [MIM:253010]	SWISS	777	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Pro549Leu	VAR_037944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037944	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	823	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Lys578Arg	VAR_008682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008682	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	862	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Gly579Asp	VAR_013555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013555	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	863	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Gly579Asp	VAR_013555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013555	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	863	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg590Cys	VAR_037946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037946	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	880	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Arg590His	VAR_008683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008683	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	880	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Tyr591Cys	VAR_008684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008684	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	881	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Tyr591Asn	VAR_008685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008685	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	881	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Pro597Ser	VAR_062370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062370	- GM1-gangliosidosis type 1 (GM1G1) [MIM:230500]	SWISS	887	COG1874	119372308,NP_000395
2720	215273939	Disease	p.Glu632Gly	VAR_008686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008686	- GM1-gangliosidosis type 2 (GM1G2) [MIM:230600]	SWISS	No Domain	N/A	119372308,NP_000395
2731	229462870	Disease	p.Ala283Pro	VAR_016849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016849	- Non-ketotic hyperglycinemia (NKH) [MIM:605899]	SWISS	265	COG0403	108773801,NP_000161
2731	229462870	Disease	p.Ala283Pro	VAR_016849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016849	- Non-ketotic hyperglycinemia (NKH) [MIM:605899]	SWISS	250	pfam02347	108773801,NP_000161
2731	229462870	Disease	p.Ala283Pro	VAR_016849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016849	- Non-ketotic hyperglycinemia (NKH) [MIM:605899]	SWISS	199	cd00613	108773801,NP_000161
2731	229462870	Disease	p.Arg515Ser	VAR_016851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016851	- Non-ketotic hyperglycinemia (NKH) [MIM:605899]	SWISS	14	COG1003	108773801,NP_000161
2731	229462870	Disease	p.Ser564Ile	VAR_004979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004979	- Non-ketotic hyperglycinemia (NKH) [MIM:605899]	SWISS	7	cd06450	108773801,NP_000161
2731	229462870	Disease	p.Ser564Ile	VAR_004979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004979	- Non-ketotic hyperglycinemia (NKH) [MIM:605899]	SWISS	89	COG1003	108773801,NP_000161
2731	229462870	Disease	p.Ser564Ile	VAR_004979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004979	- Non-ketotic hyperglycinemia (NKH) [MIM:605899]	SWISS	34	cd00613	108773801,NP_000161
2733	83288218	Disease	p.Arg569His	VAR_043875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043875	- Lethal congenital contracture syndrome type 1 (LCCS1) [MIM:253310]	SWISS	199	pfam07817	51317384,NP_001003722
2733	83288218	Disease	p.Val617Met	VAR_043876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043876	- Lethal arthrogryposis with anterior horn cell disease (LAAHD) [MIM:611890]	SWISS	285	pfam07817	51317384,NP_001003722
2733	83288218	Disease	p.Ile684Thr	VAR_043877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043877	- Lethal arthrogryposis with anterior horn cell disease (LAAHD) [MIM:611890]	SWISS	No Domain	N/A	51317384,NP_001003722
2736	215274258	Disease	p.Arg479Gly	VAR_032975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032975	- Holoprosencephaly type 9 (HPE9) [MIM:610829]	SWISS	No Domain	N/A	86991432,NP_005261
2736	215274258	Disease	p.Pro932Ser	VAR_032976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032976	- Holoprosencephaly type 9 (HPE9) [MIM:610829]	SWISS	No Domain	N/A	86991432,NP_005261
2736	215274258	Disease	p.Met1444Ile	VAR_032977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032977	- Holoprosencephaly type 9 (HPE9) [MIM:610829]	SWISS	No Domain	N/A	86991432,NP_005261
2736	215274258	Disease	p.Pro1554Leu	VAR_032978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032978	- Holoprosencephaly type 9 (HPE9) [MIM:610829]	SWISS	No Domain	N/A	86991432,NP_005261
2737	269849770	Disease	p.Cys515Gly	VAR_010053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010053	- Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]	SWISS	No Domain	N/A	119393899,NP_000159
2737	269849770	Disease	p.Cys520Tyr	VAR_010054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010054	- Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]	SWISS	No Domain	N/A	119393899,NP_000159
2737	269849770	Disease	p.Arg625Trp	VAR_021481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021481	- Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]	SWISS	26	pfam00096	119393899,NP_000159
2737	269849770	Disease	p.Arg625Trp	VAR_021481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021481	- Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]	SWISS	26	smart00355	119393899,NP_000159
2737	269849770	Disease	p.Pro707Ser	VAR_010055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010055	- Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]	SWISS	No Domain	N/A	119393899,NP_000159
2737	269849770	Disease	p.Gly727Arg	VAR_009876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009876	- Type A1/B postaxial polydactyly (PAPA1/PAPB) [MIM:174200, 603596]	SWISS	No Domain	N/A	119393899,NP_000159
2737	269849770	Disease	p.Ile808Met	VAR_010056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010056	- Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]	SWISS	No Domain	N/A	119393899,NP_000159
2737	269849770	Disease	p.Ala934Pro	VAR_021482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021482	rs28933372 Acrocallosal syndrome (ACS) [MIM:200990]	SWISS	No Domain	N/A	119393899,NP_000159
2741	116242495	Disease	p.Ile272Asn	VAR_000296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000296	- Startle disease (STHE) [MIM:149400]	SWISS	18	pfam02932	225903367,NP_001139512
2741	116242495	Disease	p.Pro278Thr	VAR_010112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010112	- Startle disease (STHE) [MIM:149400]	SWISS	24	pfam02932	225903367,NP_001139512
2741	116242495	Disease	p.Arg280His	VAR_010113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010113	- Startle disease (STHE) [MIM:149400]	SWISS	26	pfam02932	225903367,NP_001139512
2741	116242495	Disease	p.Gln294His	VAR_000297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000297	- Startle disease (STHE) [MIM:149400]	SWISS	40	pfam02932	225903367,NP_001139512
2741	116242495	Disease	p.Arg299Leu	VAR_000298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000298	- Startle disease (STHE) [MIM:149400]	SWISS	45	pfam02932	225903367,NP_001139512
2741	116242495	Disease	p.Arg299Gln	VAR_000299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000299	- Startle disease (STHE) [MIM:149400]	SWISS	45	pfam02932	225903367,NP_001139512
2741	116242495	Disease	p.Lys304Glu	VAR_000300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000300	- Startle disease (STHE) [MIM:149400]	SWISS	51	pfam02932	225903367,NP_001139512
2741	116242495	Disease	p.Tyr307Cys	VAR_000301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000301	- Startle disease (STHE) [MIM:149400]	SWISS	54	pfam02932	225903367,NP_001139512
2741	116242495	Disease	p.Arg428His	VAR_010114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010114	- Startle disease (STHE) [MIM:149400]	SWISS	463	pfam02932	225903367,NP_001139512
2743	1346173	Disease	p.Gly251Asp	VAR_035070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035070	- Startle disease (STHE) [MIM:149400]	SWISS	284	pfam02931	260593684,NP_001159532|4504023,NP_000815
2746	118541	Disease	p.Ser270Cys	VAR_016760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016760	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	15	cd05313	4885281,NP_005262
2746	118541	Disease	p.Ser270Cys	VAR_016760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016760	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	8	cd01076	4885281,NP_005262
2746	118541	Disease	p.Ser270Cys	VAR_016760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016760	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	9	pfam00208	4885281,NP_005262
2746	118541	Disease	p.Ser270Cys	VAR_016760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016760	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	200	COG0334	4885281,NP_005262
2746	118541	Disease	p.Arg274Cys	VAR_016761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016761	rs56275071 Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	4	cd05211	4885281,NP_005262
2746	118541	Disease	p.Arg274Cys	VAR_016761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016761	rs56275071 Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	19	cd05313	4885281,NP_005262
2746	118541	Disease	p.Arg274Cys	VAR_016761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016761	rs56275071 Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	12	cd01076	4885281,NP_005262
2746	118541	Disease	p.Arg274Cys	VAR_016761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016761	rs56275071 Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	13	pfam00208	4885281,NP_005262
2746	118541	Disease	p.Arg274Cys	VAR_016761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016761	rs56275071 Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	7	cd01075	4885281,NP_005262
2746	118541	Disease	p.Arg274Cys	VAR_016761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016761	rs56275071 Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	205	COG0334	4885281,NP_005262
2746	118541	Disease	p.Arg318Lys	VAR_009270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009270	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	42	cd05211	4885281,NP_005262
2746	118541	Disease	p.Arg318Lys	VAR_009270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009270	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	9	smart00839	4885281,NP_005262
2746	118541	Disease	p.Arg318Lys	VAR_009270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009270	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	59	cd05313	4885281,NP_005262
2746	118541	Disease	p.Arg318Lys	VAR_009270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009270	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	73	cd01076	4885281,NP_005262
2746	118541	Disease	p.Arg318Lys	VAR_009270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009270	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	55	pfam00208	4885281,NP_005262
2746	118541	Disease	p.Arg318Lys	VAR_009270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009270	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	45	cd01075	4885281,NP_005262
2746	118541	Disease	p.Arg318Lys	VAR_009270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009270	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	266	COG0334	4885281,NP_005262
2746	118541	Disease	p.Arg318Thr	VAR_016762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016762	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	42	cd05211	4885281,NP_005262
2746	118541	Disease	p.Arg318Thr	VAR_016762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016762	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	9	smart00839	4885281,NP_005262
2746	118541	Disease	p.Arg318Thr	VAR_016762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016762	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	59	cd05313	4885281,NP_005262
2746	118541	Disease	p.Arg318Thr	VAR_016762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016762	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	73	cd01076	4885281,NP_005262
2746	118541	Disease	p.Arg318Thr	VAR_016762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016762	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	55	pfam00208	4885281,NP_005262
2746	118541	Disease	p.Arg318Thr	VAR_016762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016762	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	45	cd01075	4885281,NP_005262
2746	118541	Disease	p.Arg318Thr	VAR_016762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016762	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	266	COG0334	4885281,NP_005262
2746	118541	Disease	p.Tyr319Cys	VAR_016763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016763	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	43	cd05211	4885281,NP_005262
2746	118541	Disease	p.Tyr319Cys	VAR_016763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016763	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	10	smart00839	4885281,NP_005262
2746	118541	Disease	p.Tyr319Cys	VAR_016763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016763	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	60	cd05313	4885281,NP_005262
2746	118541	Disease	p.Tyr319Cys	VAR_016763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016763	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	74	cd01076	4885281,NP_005262
2746	118541	Disease	p.Tyr319Cys	VAR_016763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016763	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	56	pfam00208	4885281,NP_005262
2746	118541	Disease	p.Tyr319Cys	VAR_016763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016763	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	46	cd01075	4885281,NP_005262
2746	118541	Disease	p.Tyr319Cys	VAR_016763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016763	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	267	COG0334	4885281,NP_005262
2746	118541	Disease	p.Arg322Cys	VAR_016764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016764	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	46	cd05211	4885281,NP_005262
2746	118541	Disease	p.Arg322Cys	VAR_016764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016764	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	13	smart00839	4885281,NP_005262
2746	118541	Disease	p.Arg322Cys	VAR_016764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016764	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	63	cd05313	4885281,NP_005262
2746	118541	Disease	p.Arg322Cys	VAR_016764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016764	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	77	cd01076	4885281,NP_005262
2746	118541	Disease	p.Arg322Cys	VAR_016764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016764	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	59	pfam00208	4885281,NP_005262
2746	118541	Disease	p.Arg322Cys	VAR_016764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016764	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	49	cd01075	4885281,NP_005262
2746	118541	Disease	p.Arg322Cys	VAR_016764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016764	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	272	COG0334	4885281,NP_005262
2746	118541	Disease	p.Arg322His	VAR_016765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016765	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	46	cd05211	4885281,NP_005262
2746	118541	Disease	p.Arg322His	VAR_016765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016765	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	13	smart00839	4885281,NP_005262
2746	118541	Disease	p.Arg322His	VAR_016765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016765	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	63	cd05313	4885281,NP_005262
2746	118541	Disease	p.Arg322His	VAR_016765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016765	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	77	cd01076	4885281,NP_005262
2746	118541	Disease	p.Arg322His	VAR_016765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016765	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	59	pfam00208	4885281,NP_005262
2746	118541	Disease	p.Arg322His	VAR_016765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016765	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	49	cd01075	4885281,NP_005262
2746	118541	Disease	p.Arg322His	VAR_016765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016765	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	272	COG0334	4885281,NP_005262
2746	118541	Disease	p.Glu349Ala	VAR_009271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009271	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	74	cd05211	4885281,NP_005262
2746	118541	Disease	p.Glu349Ala	VAR_009271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009271	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	108	smart00839	4885281,NP_005262
2746	118541	Disease	p.Glu349Ala	VAR_009271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009271	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	92	cd05313	4885281,NP_005262
2746	118541	Disease	p.Glu349Ala	VAR_009271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009271	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	112	cd01076	4885281,NP_005262
2746	118541	Disease	p.Glu349Ala	VAR_009271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009271	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	97	pfam00208	4885281,NP_005262
2746	118541	Disease	p.Glu349Ala	VAR_009271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009271	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	65	cd01075	4885281,NP_005262
2746	118541	Disease	p.Glu349Ala	VAR_009271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009271	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	306	COG0334	4885281,NP_005262
2746	118541	Disease	p.Ser498Leu	VAR_008666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008666	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	190_G	cd05211	4885281,NP_005262
2746	118541	Disease	p.Ser498Leu	VAR_008666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008666	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	295	smart00839	4885281,NP_005262
2746	118541	Disease	p.Ser498Leu	VAR_008666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008666	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	297	cd01076	4885281,NP_005262
2746	118541	Disease	p.Ser498Leu	VAR_008666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008666	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	278_G	pfam00208	4885281,NP_005262
2746	118541	Disease	p.Ser498Leu	VAR_008666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008666	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	441	COG0334	4885281,NP_005262
2746	118541	Disease	p.Gly499Asp	VAR_008667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008667	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	190_G	cd05211	4885281,NP_005262
2746	118541	Disease	p.Gly499Asp	VAR_008667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008667	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	296	smart00839	4885281,NP_005262
2746	118541	Disease	p.Gly499Asp	VAR_008667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008667	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	298	cd01076	4885281,NP_005262
2746	118541	Disease	p.Gly499Asp	VAR_008667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008667	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	278_G	pfam00208	4885281,NP_005262
2746	118541	Disease	p.Gly499Asp	VAR_008667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008667	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	442	COG0334	4885281,NP_005262
2746	118541	Disease	p.Gly499Ser	VAR_008668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008668	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	190_G	cd05211	4885281,NP_005262
2746	118541	Disease	p.Gly499Ser	VAR_008668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008668	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	296	smart00839	4885281,NP_005262
2746	118541	Disease	p.Gly499Ser	VAR_008668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008668	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	298	cd01076	4885281,NP_005262
2746	118541	Disease	p.Gly499Ser	VAR_008668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008668	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	278_G	pfam00208	4885281,NP_005262
2746	118541	Disease	p.Gly499Ser	VAR_008668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008668	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	442	COG0334	4885281,NP_005262
2746	118541	Disease	p.Ser501Pro	VAR_008669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008669	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	190_G	cd05211	4885281,NP_005262
2746	118541	Disease	p.Ser501Pro	VAR_008669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008669	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	298	smart00839	4885281,NP_005262
2746	118541	Disease	p.Ser501Pro	VAR_008669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008669	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	300	cd01076	4885281,NP_005262
2746	118541	Disease	p.Ser501Pro	VAR_008669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008669	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	278_G	pfam00208	4885281,NP_005262
2746	118541	Disease	p.Ser501Pro	VAR_008669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008669	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	444	COG0334	4885281,NP_005262
2746	118541	Disease	p.His507Tyr	VAR_008670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008670	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	196	cd05211	4885281,NP_005262
2746	118541	Disease	p.His507Tyr	VAR_008670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008670	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	304	smart00839	4885281,NP_005262
2746	118541	Disease	p.His507Tyr	VAR_008670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008670	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	306	cd01076	4885281,NP_005262
2746	118541	Disease	p.His507Tyr	VAR_008670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008670	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	283	pfam00208	4885281,NP_005262
2746	118541	Disease	p.His507Tyr	VAR_008670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008670	- Familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]	SWISS	450	COG0334	4885281,NP_005262
2752	1169929	Disease	p.Arg324Cys	VAR_026560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026560	- Congenital systemic glutamine deficiency (CSGD) [MIM:610015]	SWISS	411	COG0174	19923206,NP_002056|74271837,NP_001028216|74271826,NP_001028228
2752	1169929	Disease	p.Arg324Cys	VAR_026560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026560	- Congenital systemic glutamine deficiency (CSGD) [MIM:610015]	SWISS	288	pfam00120	19923206,NP_002056|74271837,NP_001028216|74271826,NP_001028228
2752	1169929	Disease	p.Arg341Cys	VAR_026561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026561	- Congenital systemic glutamine deficiency (CSGD) [MIM:610015]	SWISS	449	COG0174	19923206,NP_002056|74271837,NP_001028216|74271826,NP_001028228
2752	1169929	Disease	p.Arg341Cys	VAR_026561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026561	- Congenital systemic glutamine deficiency (CSGD) [MIM:610015]	SWISS	310	pfam00120	19923206,NP_002056|74271837,NP_001028216|74271826,NP_001028228
2760	160331912	Disease	p.Cys138Arg	VAR_006947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006947	- GM2-gangliosidosis type AB (GM2GAB) [MIM:272750]	SWISS	107	cd00258	39995109,NP_000396
2760	160331912	Disease	p.Cys138Arg	VAR_006947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006947	- GM2-gangliosidosis type AB (GM2GAB) [MIM:272750]	SWISS	123	cd00912	39995109,NP_000396
2760	160331912	Disease	p.Cys138Arg	VAR_006947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006947	- GM2-gangliosidosis type AB (GM2GAB) [MIM:272750]	SWISS	170	smart00737	39995109,NP_000396
2760	160331912	Disease	p.Arg169Pro	VAR_011698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011698	- GM2-gangliosidosis type AB (GM2GAB) [MIM:272750]	SWISS	138	cd00258	39995109,NP_000396
2760	160331912	Disease	p.Arg169Pro	VAR_011698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011698	- GM2-gangliosidosis type AB (GM2GAB) [MIM:272750]	SWISS	156	cd00912	39995109,NP_000396
2760	160331912	Disease	p.Arg169Pro	VAR_011698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011698	- GM2-gangliosidosis type AB (GM2GAB) [MIM:272750]	SWISS	221	smart00737	39995109,NP_000396
2778	116242967	Disease	p.Pro374Thr	VAR_028774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028774	- GNAS hyperfunction [MIM:139320]	SWISS	No Domain	N/A	117938768,NP_001070958
2778	116242967	Disease	p.Leu397Val	VAR_028776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028776	- GNAS hyperfunction [MIM:139320]	SWISS	No Domain	N/A	117938768,NP_001070958
2778	116248089	Disease	p.Ala436Asp	VAR_028777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028777	- GNAS hyperfunction [MIM:139320]	SWISS	No Domain	N/A	117938759,NP_536350
2778	116248089	Disease	p.Pro459Arg	VAR_028779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028779	- GNAS hyperfunction [MIM:139320]	SWISS	No Domain	N/A	117938759,NP_536350
2778	52000961	Disease	p.Leu99Pro	VAR_003439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003439	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	41	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Leu99Pro	VAR_003439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003439	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	74	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Leu99Pro	VAR_003439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003439	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	114	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Leu99Pro	VAR_003439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003439	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	83	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Pro115Leu	VAR_017843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017843	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	57	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Pro115Leu	VAR_017843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017843	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	90	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Pro115Leu	VAR_017843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017843	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	130	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Pro115Leu	VAR_017843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017843	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	100	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Asp156Asn	VAR_031873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031873	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	98	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Asp156Asn	VAR_031873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031873	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	142	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Asp156Asn	VAR_031873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031873	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	376	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Asp156Asn	VAR_031873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031873	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	256	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Val159Met	VAR_031874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031874	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	101	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Val159Met	VAR_031874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031874	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	145	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Val159Met	VAR_031874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031874	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	379	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Val159Met	VAR_031874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031874	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	259	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Arg165Cys	VAR_003440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003440	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	107	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Arg165Cys	VAR_003440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003440	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	151	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Arg165Cys	VAR_003440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003440	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	385	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Arg165Cys	VAR_003440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003440	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	267	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Arg201Cys	VAR_003442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003442	rs11554273 McCune-Albright syndrome (MAS) [MIM:174800]	SWISS	143	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Arg201Cys	VAR_003442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003442	rs11554273 McCune-Albright syndrome (MAS) [MIM:174800]	SWISS	191	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Arg201Cys	VAR_003442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003442	rs11554273 McCune-Albright syndrome (MAS) [MIM:174800]	SWISS	46	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Arg201Cys	VAR_003442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003442	rs11554273 McCune-Albright syndrome (MAS) [MIM:174800]	SWISS	450	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Arg201Cys	VAR_003442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003442	rs11554273 McCune-Albright syndrome (MAS) [MIM:174800]	SWISS	331	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Arg201Gly	VAR_017844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017844	- McCune-Albright syndrome (MAS) [MIM:174800]	SWISS	143	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Arg201Gly	VAR_017844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017844	- McCune-Albright syndrome (MAS) [MIM:174800]	SWISS	191	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Arg201Gly	VAR_017844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017844	- McCune-Albright syndrome (MAS) [MIM:174800]	SWISS	46	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Arg201Gly	VAR_017844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017844	- McCune-Albright syndrome (MAS) [MIM:174800]	SWISS	450	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Arg201Gly	VAR_017844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017844	- McCune-Albright syndrome (MAS) [MIM:174800]	SWISS	331	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Arg201His	VAR_003441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003441	- ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]	SWISS	143	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Arg201His	VAR_003441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003441	- ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]	SWISS	191	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Arg201His	VAR_003441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003441	- ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]	SWISS	46	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Arg201His	VAR_003441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003441	- ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]	SWISS	450	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Arg201His	VAR_003441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003441	- ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]	SWISS	331	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Arg201His	VAR_003441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003441	- McCune-Albright syndrome (MAS) [MIM:174800]	SWISS	143	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Arg201His	VAR_003441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003441	- McCune-Albright syndrome (MAS) [MIM:174800]	SWISS	191	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Arg201His	VAR_003441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003441	- McCune-Albright syndrome (MAS) [MIM:174800]	SWISS	46	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Arg201His	VAR_003441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003441	- McCune-Albright syndrome (MAS) [MIM:174800]	SWISS	450	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Arg201His	VAR_003441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003441	- McCune-Albright syndrome (MAS) [MIM:174800]	SWISS	331	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Arg201Ser	VAR_017846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017846	- ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]	SWISS	143	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Arg201Ser	VAR_017846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017846	- ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]	SWISS	191	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Arg201Ser	VAR_017846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017846	- ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]	SWISS	46	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Arg201Ser	VAR_017846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017846	- ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]	SWISS	450	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Arg201Ser	VAR_017846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017846	- ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]	SWISS	331	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Arg231His	VAR_017848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017848	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	311	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Arg231His	VAR_017848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017848	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	229	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Arg231His	VAR_017848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017848	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	85	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Arg231His	VAR_017848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017848	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	525	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Arg231His	VAR_017848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017848	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	380	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Thr242Ile	VAR_031875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031875	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	389	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Thr242Ile	VAR_031875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031875	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	241	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Thr242Ile	VAR_031875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031875	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	96	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Thr242Ile	VAR_031875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031875	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	542	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Thr242Ile	VAR_031875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031875	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	396	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Phe246Ser	VAR_031876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031876	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	393	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Phe246Ser	VAR_031876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031876	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	245	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Phe246Ser	VAR_031876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031876	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	100	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Phe246Ser	VAR_031876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031876	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	546	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Phe246Ser	VAR_031876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031876	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	400	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Ser250Arg	VAR_017849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017849	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	397	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Ser250Arg	VAR_017849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017849	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	249	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Ser250Arg	VAR_017849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017849	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	104	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Ser250Arg	VAR_017849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017849	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	550	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Ser250Arg	VAR_017849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017849	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	404	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Arg258Trp	VAR_015388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015388	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	405	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Arg258Trp	VAR_015388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015388	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	257	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Arg258Trp	VAR_015388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015388	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	113	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Arg258Trp	VAR_015388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015388	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	669	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Arg258Trp	VAR_015388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015388	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	412	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Glu259Val	VAR_031877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031877	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	406	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Glu259Val	VAR_031877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031877	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	258	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Glu259Val	VAR_031877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031877	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	114	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Glu259Val	VAR_031877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031877	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	670	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Glu259Val	VAR_031877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031877	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	413	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Arg280Gly	VAR_031878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031878	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	503	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Arg280Gly	VAR_031878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031878	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	281	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Arg280Gly	VAR_031878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031878	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	135	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Arg280Gly	VAR_031878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031878	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	691	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Arg280Gly	VAR_031878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031878	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	468	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Arg280Lys	VAR_031879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031879	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	503	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Arg280Lys	VAR_031879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031879	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	281	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Arg280Lys	VAR_031879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031879	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	135	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Arg280Lys	VAR_031879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031879	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	691	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Arg280Lys	VAR_031879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031879	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	468	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Trp281Arg	VAR_031880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031880	- Progressive osseous heteroplasia (POH) [MIM:166350]	SWISS	504	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Trp281Arg	VAR_031880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031880	- Progressive osseous heteroplasia (POH) [MIM:166350]	SWISS	282	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Trp281Arg	VAR_031880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031880	- Progressive osseous heteroplasia (POH) [MIM:166350]	SWISS	136	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Trp281Arg	VAR_031880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031880	- Progressive osseous heteroplasia (POH) [MIM:166350]	SWISS	692	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Trp281Arg	VAR_031880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031880	- Progressive osseous heteroplasia (POH) [MIM:166350]	SWISS	469	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Lys338Asn	VAR_031881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031881	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	608	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Lys338Asn	VAR_031881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031881	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	340	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Lys338Asn	VAR_031881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031881	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	228	cd04160	4504047,NP_000507
2778	52000961	Disease	p.Lys338Asn	VAR_031881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031881	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	785	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Lys338Asn	VAR_031881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031881	- Pseudohypoparathyroidism type 1A (PHP1A) [MIM:103580]	SWISS	530	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Ala366Ser	VAR_017850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017850	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	636	cd00882	4504047,NP_000507
2778	52000961	Disease	p.Ala366Ser	VAR_017850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017850	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	379	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Ala366Ser	VAR_017850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017850	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	820	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Ala366Ser	VAR_017850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017850	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	570	smart00275	4504047,NP_000507
2778	52000961	Disease	p.Arg385His	VAR_003444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003444	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	398	pfam00503	4504047,NP_000507
2778	52000961	Disease	p.Arg385His	VAR_003444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003444	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	849	cd00066	4504047,NP_000507
2778	52000961	Disease	p.Arg385His	VAR_003444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003444	- Albright hereditary osteodystrophy (AHO) [MIM:103580]	SWISS	589	smart00275	4504047,NP_000507
2779	121032	Disease	p.Gly38Asp	VAR_009279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009279	- Congenital stationary night blindness autosomal dominant type 3 (CSNBAD3) [MIM:610444]	SWISS	5	cd00882	22027520,NP_000163|22027522,NP_653082
2779	121032	Disease	p.Gly38Asp	VAR_009279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009279	- Congenital stationary night blindness autosomal dominant type 3 (CSNBAD3) [MIM:610444]	SWISS	9	cd00066	22027520,NP_000163|22027522,NP_653082
2779	121032	Disease	p.Gly38Asp	VAR_009279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009279	- Congenital stationary night blindness autosomal dominant type 3 (CSNBAD3) [MIM:610444]	SWISS	46	smart00275	22027520,NP_000163|22027522,NP_653082
2779	121032	Disease	p.Gly38Asp	VAR_009279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009279	- Congenital stationary night blindness autosomal dominant type 3 (CSNBAD3) [MIM:610444]	SWISS	39	pfam00503	22027520,NP_000163|22027522,NP_653082
10020	45476991	Disease	p.Pro27Ser	VAR_021771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021771	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	17	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Pro27Ser	VAR_021771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021771	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	21	COG0381	4885285,NP_005467
10020	45476991	Disease	p.Pro36Leu	VAR_017945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017945	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	26	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Pro36Leu	VAR_017945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017945	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	7	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Pro36Leu	VAR_017945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017945	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	30	COG0381	4885285,NP_005467
10020	45476991	Disease	p.His132Gln	VAR_021772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021772	- Nonaka myopathy (NM) [MIM:605820]	SWISS	141	cd03786	4885285,NP_005467
10020	45476991	Disease	p.His132Gln	VAR_021772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021772	- Nonaka myopathy (NM) [MIM:605820]	SWISS	167	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.His132Gln	VAR_021772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021772	- Nonaka myopathy (NM) [MIM:605820]	SWISS	131	COG0381	4885285,NP_005467
10020	45476991	Disease	p.Arg162Cys	VAR_021773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021773	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	177	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Arg162Cys	VAR_021773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021773	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	227	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Arg162Cys	VAR_021773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021773	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	190	COG0381	4885285,NP_005467
10020	45476991	Disease	p.Met171Val	VAR_021774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021774	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	186	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Met171Val	VAR_021774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021774	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	236	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Met171Val	VAR_021774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021774	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	199	COG0381	4885285,NP_005467
10020	45476991	Disease	p.Asp176Val	VAR_021775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021775	- Nonaka myopathy (NM) [MIM:605820]	SWISS	210	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Asp176Val	VAR_021775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021775	- Nonaka myopathy (NM) [MIM:605820]	SWISS	264	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Asp176Val	VAR_021775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021775	- Nonaka myopathy (NM) [MIM:605820]	SWISS	204	COG0381	4885285,NP_005467
10020	45476991	Disease	p.Arg177Cys	VAR_021776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021776	- Nonaka myopathy (NM) [MIM:605820]	SWISS	211	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Arg177Cys	VAR_021776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021776	- Nonaka myopathy (NM) [MIM:605820]	SWISS	270	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Arg177Cys	VAR_021776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021776	- Nonaka myopathy (NM) [MIM:605820]	SWISS	210	COG0381	4885285,NP_005467
10020	45476991	Disease	p.Ile200Phe	VAR_017946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017946	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	234	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Ile200Phe	VAR_017946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017946	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	365	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Ile200Phe	VAR_017946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017946	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	236	COG0381	4885285,NP_005467
10020	45476991	Disease	p.Gly206Ser	VAR_021777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021777	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	253	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Gly206Ser	VAR_021777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021777	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	383	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Gly206Ser	VAR_021777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021777	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	246	COG0381	4885285,NP_005467
10020	45476991	Disease	p.Val216Ala	VAR_021778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021778	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	263	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Val216Ala	VAR_021778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021778	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	443	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Val216Ala	VAR_021778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021778	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	254	COG0381	4885285,NP_005467
10020	45476991	Disease	p.Asp225Asn	VAR_017947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017947	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	272	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Asp225Asn	VAR_017947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017947	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	455	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Asp225Asn	VAR_017947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017947	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	263	COG0381	4885285,NP_005467
10020	45476991	Disease	p.Arg246Gln	VAR_017948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017948	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	294	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Arg246Gln	VAR_017948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017948	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	486	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Arg246Gln	VAR_017948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017948	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	286	COG0381	4885285,NP_005467
10020	45476991	Disease	p.Arg246Trp	VAR_017949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017949	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	294	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Arg246Trp	VAR_017949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017949	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	486	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Arg246Trp	VAR_017949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017949	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	286	COG0381	4885285,NP_005467
10020	45476991	Disease	p.Arg263Leu	VAR_017950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017950	- Sialuria [MIM:269921]	SWISS	318	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Arg263Leu	VAR_017950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017950	- Sialuria [MIM:269921]	SWISS	521	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Arg263Leu	VAR_017950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017950	- Sialuria [MIM:269921]	SWISS	302	COG0381	4885285,NP_005467
10020	45476991	Disease	p.Arg266Gln	VAR_017951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017951	- Sialuria [MIM:269921]	SWISS	321	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Arg266Gln	VAR_017951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017951	- Sialuria [MIM:269921]	SWISS	534	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Arg266Gln	VAR_017951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017951	- Sialuria [MIM:269921]	SWISS	305	COG0381	4885285,NP_005467
10020	45476991	Disease	p.Arg266Trp	VAR_017952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017952	- Sialuria [MIM:269921]	SWISS	321	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Arg266Trp	VAR_017952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017952	- Sialuria [MIM:269921]	SWISS	534	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Arg266Trp	VAR_017952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017952	- Sialuria [MIM:269921]	SWISS	305	COG0381	4885285,NP_005467
10020	45476991	Disease	p.Cys303Val	VAR_017953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017953	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	361	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Cys303Val	VAR_017953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017953	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	623	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Cys303Val	VAR_017953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017953	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	347	COG0381	4885285,NP_005467
10020	45476991	Disease	p.Arg306Gln	VAR_021779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021779	- Nonaka myopathy (NM) [MIM:605820]	SWISS	364	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Arg306Gln	VAR_021779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021779	- Nonaka myopathy (NM) [MIM:605820]	SWISS	626	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Arg306Gln	VAR_021779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021779	- Nonaka myopathy (NM) [MIM:605820]	SWISS	350	COG0381	4885285,NP_005467
10020	45476991	Disease	p.Val331Ala	VAR_021780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021780	- Nonaka myopathy (NM) [MIM:605820]	SWISS	397	cd03786	4885285,NP_005467
10020	45476991	Disease	p.Val331Ala	VAR_021780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021780	- Nonaka myopathy (NM) [MIM:605820]	SWISS	669	pfam02350	4885285,NP_005467
10020	45476991	Disease	p.Val331Ala	VAR_021780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021780	- Nonaka myopathy (NM) [MIM:605820]	SWISS	382	COG0381	4885285,NP_005467
10020	45476991	Disease	p.Asp378Tyr	VAR_017954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017954	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	437	COG0381	4885285,NP_005467
10020	45476991	Disease	p.Asp378Tyr	VAR_017954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017954	- Nonaka myopathy (NM) [MIM:605820]	SWISS	437	COG0381	4885285,NP_005467
10020	45476991	Disease	p.Ala460Val	VAR_017955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017955	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	59	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Ala460Val	VAR_017955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017955	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	50	pfam00480	4885285,NP_005467
10020	45476991	Disease	p.Ala460Val	VAR_017955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017955	- Nonaka myopathy (NM) [MIM:605820]	SWISS	59	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Ala460Val	VAR_017955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017955	- Nonaka myopathy (NM) [MIM:605820]	SWISS	50	pfam00480	4885285,NP_005467
10020	45476991	Disease	p.Ile472Thr	VAR_021781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021781	- Nonaka myopathy (NM) [MIM:605820]	SWISS	75	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Ile472Thr	VAR_021781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021781	- Nonaka myopathy (NM) [MIM:605820]	SWISS	66	pfam00480	4885285,NP_005467
10020	45476991	Disease	p.Asn519Ser	VAR_021782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021782	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	130	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Asn519Ser	VAR_021782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021782	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	119	pfam00480	4885285,NP_005467
10020	45476991	Disease	p.Ala524Val	VAR_017956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017956	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	135	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Ala524Val	VAR_017956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017956	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	124	pfam00480	4885285,NP_005467
10020	45476991	Disease	p.Phe528Cys	VAR_017957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017957	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	139	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Phe528Cys	VAR_017957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017957	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	128	pfam00480	4885285,NP_005467
10020	45476991	Disease	p.Ile557Thr	VAR_017958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017958	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	173	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Ile557Thr	VAR_017958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017958	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	157	pfam00480	4885285,NP_005467
10020	45476991	Disease	p.Val572Leu	VAR_017959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017959	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	194	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Val572Leu	VAR_017959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017959	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	176	pfam00480	4885285,NP_005467
10020	45476991	Disease	p.Val572Leu	VAR_017959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017959	- Nonaka myopathy (NM) [MIM:605820]	SWISS	194	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Val572Leu	VAR_017959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017959	- Nonaka myopathy (NM) [MIM:605820]	SWISS	176	pfam00480	4885285,NP_005467
10020	45476991	Disease	p.Gly576Glu	VAR_017960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017960	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	198	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Gly576Glu	VAR_017960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017960	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	191	pfam00480	4885285,NP_005467
10020	45476991	Disease	p.Ile587Thr	VAR_017961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017961	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	221	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Ile587Thr	VAR_017961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017961	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	203	pfam00480	4885285,NP_005467
10020	45476991	Disease	p.Ala600Thr	VAR_021783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021783	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	234	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Ala630Thr	VAR_021784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021784	- Nonaka myopathy (NM) [MIM:605820]	SWISS	272	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Ala631Thr	VAR_017962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017962	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	273	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Ala631Val	VAR_017963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017963	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	273	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Ala631Val	VAR_017963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017963	- Nonaka myopathy (NM) [MIM:605820]	SWISS	273	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Tyr675His	VAR_017964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017964	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	397	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Val696Met	VAR_017965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017965	- Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	423	COG1940	4885285,NP_005467
10020	45476991	Disease	p.Met712Thr	VAR_017966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017966	rs28937594 Inclusion body myopathy type 2 (IBM2) [MIM:600737]	SWISS	503	COG1940	4885285,NP_005467
27232	12644416	Disease	p.Leu50Pro	VAR_012766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012766	- Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664]	SWISS	71	COG0500	9506741,NP_061833
27232	12644416	Disease	p.Asn141Ser	VAR_019840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019840	- Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664]	SWISS	314	COG0500	9506741,NP_061833
27232	12644416	Disease	p.Asn141Ser	VAR_019840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019840	- Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664]	SWISS	207	cd02440	9506741,NP_061833
27232	12644416	Disease	p.Asn141Ser	VAR_019840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019840	- Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664]	SWISS	125	pfam08242	9506741,NP_061833
27232	12644416	Disease	p.Asn141Ser	VAR_019840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019840	- Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664]	SWISS	127	pfam08241	9506741,NP_061833
27232	12644416	Disease	p.His177Asn	VAR_012767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012767	- Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664]	SWISS	397	COG0500	9506741,NP_061833
27232	12644416	Disease	p.His177Asn	VAR_012767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012767	- Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664]	SWISS	350	cd02440	9506741,NP_061833
8443	3913409	Disease	p.Arg211Cys	VAR_006357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006357	rs28939697 Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765]	SWISS	185	smart00563	7657134,NP_055051
8443	3913409	Disease	p.Arg211Cys	VAR_006357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006357	rs28939697 Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765]	SWISS	384	COG2937	7657134,NP_055051
8443	3913409	Disease	p.Arg211Cys	VAR_006357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006357	rs28939697 Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765]	SWISS	89	cd07993	7657134,NP_055051
8443	3913409	Disease	p.Arg211Cys	VAR_006357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006357	rs28939697 Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765]	SWISS	107	cd06551	7657134,NP_055051
8443	3913409	Disease	p.Arg211Cys	VAR_006357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006357	rs28939697 Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765]	SWISS	102	pfam01553	7657134,NP_055051
8443	3913409	Disease	p.Arg211Cys	VAR_006357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006357	rs28939697 Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765]	SWISS	165	COG0204	7657134,NP_055051
8443	3913409	Disease	p.Arg211His	VAR_006358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006358	rs28939696 Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765]	SWISS	185	smart00563	7657134,NP_055051
8443	3913409	Disease	p.Arg211His	VAR_006358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006358	rs28939696 Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765]	SWISS	384	COG2937	7657134,NP_055051
8443	3913409	Disease	p.Arg211His	VAR_006358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006358	rs28939696 Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765]	SWISS	89	cd07993	7657134,NP_055051
8443	3913409	Disease	p.Arg211His	VAR_006358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006358	rs28939696 Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765]	SWISS	107	cd06551	7657134,NP_055051
8443	3913409	Disease	p.Arg211His	VAR_006358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006358	rs28939696 Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765]	SWISS	102	pfam01553	7657134,NP_055051
8443	3913409	Disease	p.Arg211His	VAR_006358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006358	rs28939696 Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765]	SWISS	165	COG0204	7657134,NP_055051
8443	3913409	Disease	p.Asp519Gly	VAR_025897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025897	rs11558492 Rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765]	SWISS	692	COG2937	7657134,NP_055051
79158	90185244	Disease	p.Lys4Gln	VAR_027509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027509	rs34159654 Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]	SWISS	No Domain	N/A	38202211,NP_077288
79158	90185244	Disease	p.Phe374Leu	VAR_062807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062807	- Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]	SWISS	No Domain	N/A	38202211,NP_077288
79158	90185244	Disease	p.Ser399Phe	VAR_062808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062808	- Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]	SWISS	No Domain	N/A	38202211,NP_077288
79158	90185244	Disease	p.Ile403Thr	VAR_062809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062809	- Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]	SWISS	No Domain	N/A	38202211,NP_077288
79158	90185244	Disease	p.Asp407Ala	VAR_025416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025416	- Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]	SWISS	No Domain	N/A	38202211,NP_077288
79158	90185244	Disease	p.Cys442Tyr	VAR_062810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062810	- Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]	SWISS	16	smart00004	38202211,NP_077288
79158	90185244	Disease	p.Cys442Tyr	VAR_062810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062810	- Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]	SWISS	20	pfam00066	38202211,NP_077288
79158	90185244	Disease	p.Cys461Gly	VAR_062811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062811	- Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]	SWISS	35	smart00004	38202211,NP_077288
79158	90185244	Disease	p.Cys461Gly	VAR_062811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062811	- Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]	SWISS	41	pfam00066	38202211,NP_077288
79158	90185244	Disease	p.Gln926Pro	VAR_062812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062812	- Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]	SWISS	No Domain	N/A	38202211,NP_077288
79158	90185244	Disease	p.His956Tyr	VAR_062813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062813	- Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]	SWISS	No Domain	N/A	38202211,NP_077288
79158	90185244	Disease	p.Leu1001Pro	VAR_062814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062814	- Mucolipidosis type II (MLII) [MIM:252500]	SWISS	No Domain	N/A	38202211,NP_077288
79158	90185244	Disease	p.Asn1153Ser	VAR_062815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062815	- Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]	SWISS	No Domain	N/A	38202211,NP_077288
79158	90185244	Disease	p.Lys1236Met	VAR_027511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027511	- Mucolipidosis type II (MLII) [MIM:252500]	SWISS	No Domain	N/A	38202211,NP_077288
2798	399777	Disease	p.Asn10Lys	VAR_019311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019311	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	No Domain	N/A	4504059,NP_000397
2798	399777	Disease	p.Glu90Lys	VAR_019312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019312	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	31	pfam00001	4504059,NP_000397
2798	399777	Disease	p.Gln106Arg	VAR_019313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019313	- Fertile eunuch syndrome [MIM:228300]	SWISS	55	pfam00001	4504059,NP_000397
2798	399777	Disease	p.Gln106Arg	VAR_019313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019313	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	55	pfam00001	4504059,NP_000397
2798	399777	Disease	p.Ala129Asp	VAR_019314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019314	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	82	pfam00001	4504059,NP_000397
2798	399777	Disease	p.Arg139His	VAR_019315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019315	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	92	pfam00001	4504059,NP_000397
2798	399777	Disease	p.Ser168Arg	VAR_019316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019316	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	125	pfam00001	4504059,NP_000397
2798	399777	Disease	p.Ala171Thr	VAR_019317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019317	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	128	pfam00001	4504059,NP_000397
2798	399777	Disease	p.Ser217Arg	VAR_019318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019318	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	186	pfam00001	4504059,NP_000397
2798	399777	Disease	p.Arg262Gln	VAR_019319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019319	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	361	pfam00001	4504059,NP_000397
2798	399777	Disease	p.Tyr284Cys	VAR_019320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019320	rs28933074 Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	383	pfam00001	4504059,NP_000397
2811	121531	Disease	p.Leu73Phe	VAR_014206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014206	- Bernard-Soulier syndrome (BSS) [MIM:231200]	SWISS	No Domain	N/A	NULL
2811	121531	Disease	p.Cys81Arg	VAR_005256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005256	- Bernard-Soulier syndrome (BSS) [MIM:231200]	SWISS	No Domain	N/A	NULL
2811	121531	Disease	p.Leu145Pro	VAR_014207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014207	- Bernard-Soulier syndrome (BSS) [MIM:231200]	SWISS	8	smart00370	NULL
2811	121531	Disease	p.Leu145Pro	VAR_014207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014207	- Bernard-Soulier syndrome (BSS) [MIM:231200]	SWISS	8	smart00369	NULL
2811	121531	Disease	p.Ala172Val	VAR_005258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005258	- Benign mediterranean macrothrombocytopenia (BMM) [MIM:153670]	SWISS	11	smart00370	NULL
2811	121531	Disease	p.Ala172Val	VAR_005258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005258	- Benign mediterranean macrothrombocytopenia (BMM) [MIM:153670]	SWISS	11	smart00369	NULL
2811	121531	Disease	p.Ala172Val	VAR_005258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005258	- Bernard-Soulier syndrome (BSS) [MIM:231200]	SWISS	11	smart00370	NULL
2811	121531	Disease	p.Ala172Val	VAR_005258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005258	- Bernard-Soulier syndrome (BSS) [MIM:231200]	SWISS	11	smart00369	NULL
2811	121531	Disease	p.Cys225Ser	VAR_005260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005260	- Bernard-Soulier syndrome (BSS) [MIM:231200]	SWISS	5	smart00082	NULL
2811	121531	Disease	p.Gly249Ser	VAR_019657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019657	- Von Willebrand disease platelet-type (PVWD) [MIM:177820]	SWISS	30	smart00082	NULL
2811	121531	Disease	p.Gly249Val	VAR_005261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005261	- Von Willebrand disease platelet-type (PVWD) [MIM:177820]	SWISS	30	smart00082	NULL
2811	121531	Disease	p.Met255Val	VAR_005262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005262	- Von Willebrand disease platelet-type (PVWD) [MIM:177820]	SWISS	36	smart00082	NULL
2812	121532	Disease	p.Tyr113Cys	VAR_025000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025000	- Bernard-Soulier syndrome (BSS) [MIM:231200]	SWISS	28	smart00082	4504073,NP_000398
2812	121532	Disease	p.Ala133Pro	VAR_025001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025001	- Bernard-Soulier syndrome (BSS) [MIM:231200]	SWISS	63	smart00082	4504073,NP_000398
2815	2822110	Disease	p.Leu7Pro	VAR_024996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024996	- Bernard-Soulier syndrome (BSS) [MIM:231200]	SWISS	No Domain	N/A	4504077,NP_000165
2815	2822110	Disease	p.Cys24Arg	VAR_024997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024997	rs28933378 Bernard-Soulier syndrome (BSS) [MIM:231200]	SWISS	7	pfam01462	4504077,NP_000165
2815	2822110	Disease	p.Cys24Arg	VAR_024997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024997	rs28933378 Bernard-Soulier syndrome (BSS) [MIM:231200]	SWISS	7	smart00013	4504077,NP_000165
2815	2822110	Disease	p.Asp37Gly	VAR_005263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005263	- Bernard-Soulier syndrome (BSS) [MIM:231200]	SWISS	21	pfam01462	4504077,NP_000165
2815	2822110	Disease	p.Asp37Gly	VAR_005263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005263	- Bernard-Soulier syndrome (BSS) [MIM:231200]	SWISS	21	smart00013	4504077,NP_000165
2815	2822110	Disease	p.Leu56Pro	VAR_024998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024998	rs28933377 Bernard-Soulier syndrome (BSS) [MIM:231200]	SWISS	No Domain	N/A	4504077,NP_000165
2815	2822110	Disease	p.Asn61Ser	VAR_005264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005264	rs5030764 Bernard-Soulier syndrome (BSS) [MIM:231200]	SWISS	No Domain	N/A	4504077,NP_000165
2815	2822110	Disease	p.Phe71Ser	VAR_024999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024999	- Bernard-Soulier syndrome (BSS) [MIM:231200]	SWISS	No Domain	N/A	4504077,NP_000165
2815	2822110	Disease	p.Cys113Tyr	VAR_025008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025008	- Bernard-Soulier syndrome (BSS) [MIM:231200]	SWISS	46	smart00082	4504077,NP_000165
2815	2822110	Disease	p.Ala156Thr	VAR_025009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025009	rs3796130 Bernard-Soulier syndrome (BSS) [MIM:231200]	SWISS	No Domain	N/A	4504077,NP_000165
2719	1708022	Disease	p.Trp296Arg	VAR_021385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021385	- Simpson-Golabi-Behmel syndrome type 1 (SGBS1) [MIM:312870]	SWISS	322	pfam01153	4758462,NP_004475
23171	74750945	Disease	p.Glu83Lys	VAR_044044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044044	- Sudden infant death syndrome (SIDS) [MIM:272120]	SWISS	86	pfam01210	24307999,NP_055956
23171	74750945	Disease	p.Glu83Lys	VAR_044044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044044	- Sudden infant death syndrome (SIDS) [MIM:272120]	SWISS	85	COG0240	24307999,NP_055956
23171	74750945	Disease	p.Ile124Val	VAR_044045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044045	- Sudden infant death syndrome (SIDS) [MIM:272120]	SWISS	140	pfam01210	24307999,NP_055956
23171	74750945	Disease	p.Ile124Val	VAR_044045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044045	- Sudden infant death syndrome (SIDS) [MIM:272120]	SWISS	141	COG0240	24307999,NP_055956
23171	74750945	Disease	p.Arg273Cys	VAR_044046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044046	- Sudden infant death syndrome (SIDS) [MIM:272120]	SWISS	94	pfam07479	24307999,NP_055956
23171	74750945	Disease	p.Arg273Cys	VAR_044046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044046	- Sudden infant death syndrome (SIDS) [MIM:272120]	SWISS	317	COG0240	24307999,NP_055956
23171	74750945	Disease	p.Ala280Val	VAR_044047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044047	- Brugada syndrome type 2 (BRS2) [MIM:611777]	SWISS	101	pfam07479	24307999,NP_055956
23171	74750945	Disease	p.Ala280Val	VAR_044047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044047	- Brugada syndrome type 2 (BRS2) [MIM:611777]	SWISS	325	COG0240	24307999,NP_055956
10243	13431554	Disease	p.Asn10Tyr	VAR_044162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044162	- Startle disease (STHE) [MIM:149400]	SWISS	No Domain	N/A	66932975,NP_001019389
2821	17380385	Disease	p.Thr5Ile	VAR_002516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002516	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	No Domain	N/A	18201905,NP_000166
2821	17380385	Disease	p.His20Pro	VAR_002517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002517	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	No Domain	N/A	18201905,NP_000166
2821	17380385	Disease	p.Arg75Gly	VAR_002518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002518	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	37	COG0166	18201905,NP_000166
2821	17380385	Disease	p.Arg75Gly	VAR_002518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002518	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	22	pfam00342	18201905,NP_000166
2821	17380385	Disease	p.Arg83Trp	VAR_002519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002519	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	47	COG0166	18201905,NP_000166
2821	17380385	Disease	p.Arg83Trp	VAR_002519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002519	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	30	pfam00342	18201905,NP_000166
2821	17380385	Disease	p.Val101Met	VAR_002521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002521	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	70	COG0166	18201905,NP_000166
2821	17380385	Disease	p.Val101Met	VAR_002521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002521	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	48	pfam00342	18201905,NP_000166
2821	17380385	Disease	p.Gly159Ser	VAR_002520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002520	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	40	cd05015	18201905,NP_000166
2821	17380385	Disease	p.Gly159Ser	VAR_002520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002520	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	133	COG0166	18201905,NP_000166
2821	17380385	Disease	p.Gly159Ser	VAR_002520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002520	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	106	pfam00342	18201905,NP_000166
2821	17380385	Disease	p.Thr195Ile	VAR_002522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002522	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	102	cd05015	18201905,NP_000166
2821	17380385	Disease	p.Thr195Ile	VAR_002522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002522	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	178	COG0166	18201905,NP_000166
2821	17380385	Disease	p.Thr195Ile	VAR_002522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002522	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	151	pfam00342	18201905,NP_000166
2821	17380385	Disease	p.Thr224Met	VAR_002523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002523	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	145	cd05015	18201905,NP_000166
2821	17380385	Disease	p.Thr224Met	VAR_002523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002523	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	211	COG0166	18201905,NP_000166
2821	17380385	Disease	p.Thr224Met	VAR_002523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002523	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	180	pfam00342	18201905,NP_000166
2821	17380385	Disease	p.Arg273His	VAR_002524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002524	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	211	cd05015	18201905,NP_000166
2821	17380385	Disease	p.Arg273His	VAR_002524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002524	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	263	COG0166	18201905,NP_000166
2821	17380385	Disease	p.Arg273His	VAR_002524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002524	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	236	pfam00342	18201905,NP_000166
2821	17380385	Disease	p.Ser278Leu	VAR_002525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002525	rs34306618 Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	217	cd05015	18201905,NP_000166
2821	17380385	Disease	p.Ser278Leu	VAR_002525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002525	rs34306618 Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	268	COG0166	18201905,NP_000166
2821	17380385	Disease	p.Ser278Leu	VAR_002525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002525	rs34306618 Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	241	pfam00342	18201905,NP_000166
2821	17380385	Disease	p.Ala300Pro	VAR_002526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002526	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	291	COG0166	18201905,NP_000166
2821	17380385	Disease	p.Ala300Pro	VAR_002526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002526	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	264	pfam00342	18201905,NP_000166
2821	17380385	Disease	p.Leu339Pro	VAR_002527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002527	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	6	cd05016	18201905,NP_000166
2821	17380385	Disease	p.Leu339Pro	VAR_002527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002527	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	330	COG0166	18201905,NP_000166
2821	17380385	Disease	p.Leu339Pro	VAR_002527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002527	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	303	pfam00342	18201905,NP_000166
2821	17380385	Disease	p.Leu339Pro	VAR_002527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002527	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	4	cd04795	18201905,NP_000166
2821	17380385	Disease	p.Gln343Arg	VAR_002528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002528	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	10	cd05016	18201905,NP_000166
2821	17380385	Disease	p.Gln343Arg	VAR_002528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002528	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	334	COG0166	18201905,NP_000166
2821	17380385	Disease	p.Gln343Arg	VAR_002528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002528	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	307	pfam00342	18201905,NP_000166
2821	17380385	Disease	p.Gln343Arg	VAR_002528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002528	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	8	cd04795	18201905,NP_000166
2821	17380385	Disease	p.Arg347Cys	VAR_002529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002529	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	14	cd05016	18201905,NP_000166
2821	17380385	Disease	p.Arg347Cys	VAR_002529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002529	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	338	COG0166	18201905,NP_000166
2821	17380385	Disease	p.Arg347Cys	VAR_002529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002529	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	311	pfam00342	18201905,NP_000166
2821	17380385	Disease	p.Arg347Cys	VAR_002529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002529	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	12	cd04795	18201905,NP_000166
2821	17380385	Disease	p.Arg347His	VAR_002530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002530	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	14	cd05016	18201905,NP_000166
2821	17380385	Disease	p.Arg347His	VAR_002530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002530	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	338	COG0166	18201905,NP_000166
2821	17380385	Disease	p.Arg347His	VAR_002530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002530	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	311	pfam00342	18201905,NP_000166
2821	17380385	Disease	p.Arg347His	VAR_002530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002530	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	12	cd04795	18201905,NP_000166
2821	17380385	Disease	p.Thr375Arg	VAR_002531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002531	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	45	cd05016	18201905,NP_000166
2821	17380385	Disease	p.Thr375Arg	VAR_002531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002531	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	367	COG0166	18201905,NP_000166
2821	17380385	Disease	p.Thr375Arg	VAR_002531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002531	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	340	pfam00342	18201905,NP_000166
2821	17380385	Disease	p.Thr375Arg	VAR_002531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002531	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	40	cd04795	18201905,NP_000166
2821	17380385	Disease	p.His389Arg	VAR_002532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002532	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	59	cd05016	18201905,NP_000166
2821	17380385	Disease	p.His389Arg	VAR_002532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002532	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	381	COG0166	18201905,NP_000166
2821	17380385	Disease	p.His389Arg	VAR_002532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002532	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	354	pfam00342	18201905,NP_000166
2821	17380385	Disease	p.His389Arg	VAR_002532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002532	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	54	cd04795	18201905,NP_000166
2821	17380385	Disease	p.Arg472His	VAR_002533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002533	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	165	cd05016	18201905,NP_000166
2821	17380385	Disease	p.Arg472His	VAR_002533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002533	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	470	COG0166	18201905,NP_000166
2821	17380385	Disease	p.Arg472His	VAR_002533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002533	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	442	pfam00342	18201905,NP_000166
2821	17380385	Disease	p.Arg472His	VAR_002533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002533	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	152	cd04795	18201905,NP_000166
2821	17380385	Disease	p.Leu487Phe	VAR_002534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002534	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	182	cd05016	18201905,NP_000166
2821	17380385	Disease	p.Leu487Phe	VAR_002534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002534	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	485	COG0166	18201905,NP_000166
2821	17380385	Disease	p.Leu487Phe	VAR_002534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002534	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	457	pfam00342	18201905,NP_000166
2821	17380385	Disease	p.Leu487Phe	VAR_002534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002534	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	195	cd04795	18201905,NP_000166
2821	17380385	Disease	p.Glu495Lys	VAR_002535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002535	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	190	cd05016	18201905,NP_000166
2821	17380385	Disease	p.Glu495Lys	VAR_002535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002535	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	493	COG0166	18201905,NP_000166
2821	17380385	Disease	p.Glu495Lys	VAR_002535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002535	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	465	pfam00342	18201905,NP_000166
2821	17380385	Disease	p.Glu495Lys	VAR_002535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002535	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	203	cd04795	18201905,NP_000166
2821	17380385	Disease	p.Leu517Val	VAR_002536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002536	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	221	cd05016	18201905,NP_000166
2821	17380385	Disease	p.Leu517Val	VAR_002536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002536	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	518	COG0166	18201905,NP_000166
2821	17380385	Disease	p.Leu517Val	VAR_002536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002536	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	487	pfam00342	18201905,NP_000166
2821	17380385	Disease	p.Ile525Thr	VAR_002537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002537	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	526	COG0166	18201905,NP_000166
2821	17380385	Disease	p.Ile525Thr	VAR_002537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002537	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	495	pfam00342	18201905,NP_000166
2821	17380385	Disease	p.Asp539Asn	VAR_002538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002538	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	541	COG0166	18201905,NP_000166
2821	17380385	Disease	p.Asp539Asn	VAR_002538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002538	- Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]	SWISS	514	pfam00342	18201905,NP_000166
4935	3219999	Disease	p.Arg5Cys	VAR_018130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018130	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	5	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Gly35Asp	VAR_005507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005507	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	35	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Leu39Arg	VAR_018131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018131	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	39	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Asp78Asn	VAR_018132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018132	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	78	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Asp78Val	VAR_018133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018133	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	78	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Gly81Val	VAR_063265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063265	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	81	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Gly84Asp	VAR_005508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005508	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	84	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Gly84Arg	VAR_005509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005509	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	84	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Ser89Phe	VAR_063266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063266	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	89	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Cys116Gly	VAR_063267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063267	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	116	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Cys116Arg	VAR_005510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005510	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	116	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Cys116Ser	VAR_018134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018134	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	116	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Cys116Trp	VAR_063268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063268	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	116	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Gly118Glu	VAR_005511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005511	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	118	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Gln124Arg	VAR_018135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018135	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	124	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Trp132Arg	VAR_063269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063269	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	132	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Trp133Arg	VAR_005513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005513	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	133	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Leu134Pro	VAR_063270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063270	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	134	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Ala138Val	VAR_005514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005514	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	138	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Ser152Asn	VAR_005515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005515	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	152	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Thr166Asn	VAR_063271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063271	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	166	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Ala173Asp	VAR_005516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005516	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	173	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Glu185Lys	VAR_063272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063272	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	185	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Arg186Pro	VAR_063273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063273	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	186	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Arg186Trp	VAR_063274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063274	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	186	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Gly229Val	VAR_018136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018136	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	229	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Thr232Lys	VAR_005517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005517	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	232	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Glu233Lys	VAR_018137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018137	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	233	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Glu235Lys	VAR_005518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005518	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	235	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Ile244Val	VAR_018138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018138	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	244	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Ile261Asn	VAR_018139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018139	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	261	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Glu271Gly	VAR_018140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018140	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	271	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Trp292Cys	VAR_018141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018141	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	292	pfam02101	270265839,NP_000264
4935	3219999	Disease	p.Trp292Gly	VAR_005520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005520	- Albinism ocular type 1 (OA1) [MIM:300500]	SWISS	292	pfam02101	270265839,NP_000264
9289	45476992	Disease	p.Arg38Trp	VAR_026242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026242	- Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854]	SWISS	No Domain	N/A	224809316,NP_001139243|41584200,NP_005673
9289	45476992	Disease	p.Tyr88Cys	VAR_026243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026243	- Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854]	SWISS	No Domain	N/A	224809316,NP_001139243|41584200,NP_005673
9289	45476992	Disease	p.Cys91Ser	VAR_026244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026244	- Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854]	SWISS	No Domain	N/A	224809316,NP_001139243|41584200,NP_005673
9289	45476992	Disease	p.Cys346Ser	VAR_026245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026245	- Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854]	SWISS	5	pfam01825	224809316,NP_001139243|41584200,NP_005673
9289	45476992	Disease	p.Cys346Ser	VAR_026245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026245	- Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854]	SWISS	5	smart00303	224809316,NP_001139243|41584200,NP_005673
9289	45476992	Disease	p.Arg565Trp	VAR_026246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026246	- Bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854]	SWISS	223	pfam00002	224809316,NP_001139243|41584200,NP_005673
2892	77416864	Disease	p.Arg450Gln	VAR_043484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043484	- Mental retardation X-linked type 94 (MRX94) [MIM:300699]	SWISS	55	pfam00497	NULL
2892	77416864	Disease	p.Arg450Gln	VAR_043484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043484	- Mental retardation X-linked type 94 (MRX94) [MIM:300699]	SWISS	47	cd00134	NULL
2892	77416864	Disease	p.Arg450Gln	VAR_043484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043484	- Mental retardation X-linked type 94 (MRX94) [MIM:300699]	SWISS	31	pfam10613	NULL
2892	77416864	Disease	p.Arg631Ser	VAR_043485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043485	- Mental retardation X-linked type 94 (MRX94) [MIM:300699]	SWISS	141	pfam00060	NULL
2892	77416864	Disease	p.Arg631Ser	VAR_043485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043485	- Mental retardation X-linked type 94 (MRX94) [MIM:300699]	SWISS	315	pfam00497	NULL
2892	77416864	Disease	p.Arg631Ser	VAR_043485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043485	- Mental retardation X-linked type 94 (MRX94) [MIM:300699]	SWISS	174	cd00134	NULL
2892	77416864	Disease	p.Met706Thr	VAR_043486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043486	- Mental retardation X-linked type 94 (MRX94) [MIM:300699]	SWISS	226	pfam00060	NULL
2892	77416864	Disease	p.Met706Thr	VAR_043486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043486	- Mental retardation X-linked type 94 (MRX94) [MIM:300699]	SWISS	480	pfam00497	NULL
2892	77416864	Disease	p.Met706Thr	VAR_043486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043486	- Mental retardation X-linked type 94 (MRX94) [MIM:300699]	SWISS	251	cd00134	NULL
2892	77416864	Disease	p.Met706Thr	VAR_043486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043486	- Mental retardation X-linked type 94 (MRX94) [MIM:300699]	SWISS	61	smart00079	NULL
2892	77416864	Disease	p.Gly833Arg	VAR_043487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043487	- Mental retardation X-linked type 94 (MRX94) [MIM:300699]	SWISS	401	pfam00060	NULL
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	204	cd06657	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	204	cd07880	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	380	cd05611	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	219	cd06609	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	198	cd05597	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	233	cd06627	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	439	cd05581	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	218	cd07848	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	334	cd06606	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	235	cd06626	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	196	cd07847	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	191	cd07846	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	197	cd06621	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	196	cd06617	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	247	cd06623	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	212	cd06605	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	217	cd05045	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	250	cd05629	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	186	cd05612	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	213	cd06622	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	249	cd05598	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	196	cd05624	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	202	cd06917	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	194	cd07853	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	208	cd07837	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	188	cd06615	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	205	cd05609	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	200	cd05601	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	333	cd05573	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	236	cd05626	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	236	cd05625	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	224	cd05627	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	206	cd07857	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	251	cd05580	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	211	cd08528	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	186	cd05582	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	204	cd06629	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	288	cd07840	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	195	cd07831	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	192	cd05584	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	782	smart00220	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	227	cd05101	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	197	cd06645	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	205	cd06659	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	209	cd07864	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	189	cd06640	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	221	cd06652	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	241	cd06608	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	197	cd06653	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	208	cd06612	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	189	cd06641	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	196	cd06643	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	197	cd06613	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	226	cd05038	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	189	cd06642	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	189	cd05589	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	189	cd05605	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	189	cd05630	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	189	cd05631	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	189	cd05632	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	238	cd07866	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	199	cd05578	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	340	pfam00069	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	237	cd07838	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	843	smart00221	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	243	cd07829	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	190	cd08225	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	201	cd05118	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	264	cd07830	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	194	cd08229	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	194	cd08228	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	195	cd08224	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	204	cd07868	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	577	smart00219	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	188	cd08219	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	198	cd05080	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	219	cd07854	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	190	cd08223	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	231	cd05095	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	203	cd05074	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	189	cd08218	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	194	cd08222	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	197	cd05583	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	209	cd05613	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	195	cd05614	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	192	cd07836	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	191	cd07861	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	216	cd07835	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	204	cd07867	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	194	cd05587	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	189	cd05616	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	189	cd05615	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	212	cd06635	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	227	cd05056	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	199	cd05108	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	199	cd05109	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	199	cd05111	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	199	cd05110	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	202	cd05034	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	198	cd06625	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	214	cd06632	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	198	cd06631	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	184	cd05590	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	183	cd05595	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	199	cd05620	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	200	cd05592	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	184	cd05602	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	184	cd05571	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	184	cd05619	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	184	cd05594	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	184	cd05591	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	184	cd05617	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	184	cd05603	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	184	cd05588	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	184	cd05618	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	184	cd05575	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	186	cd05570	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	184	cd05604	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	213	cd05035	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	207	cd05044	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	183	cd05085	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	184	cd05084	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	186	cd05041	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	193	cd05060	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	186	cd05116	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	201	cd05040	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	197	cd06630	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	211	cd07832	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	426	cd00192	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	183	cd05593	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	197	cd05058	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	212	cd07843	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	196	cd08530	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	261	cd08217	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	304	cd07842	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	194	cd06620	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	194	cd08529	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	189	cd05112	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	242	cd06614	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	210	cd07876	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	206	cd06658	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	190	cd06649	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	258	cd07865	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	190	cd06650	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	224	cd05099	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	285	cd05574	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	197	cd06651	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	403	cd05599	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	385	pfam07714	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	201	cd08216	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	257	cd05600	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	253	cd05057	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	203	cd06644	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	197	cd06646	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	202	cd06607	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	203	cd06656	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	203	cd06655	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	204	cd06654	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	196	cd05623	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	213	cd07849	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	191	cd05069	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	212	cd06610	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	914	COG0515	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	254	cd05032	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	224	cd05628	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	200	cd05079	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	199	cd05081	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	192	cd05073	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	226	cd07855	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	194	cd05148	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	185	cd05083	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	197	cd05068	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	201	cd07859	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	198	cd08220	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	257	cd08215	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	188	cd07839	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	204	cd06628	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	192	cd08221	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	277	cd07834	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	233	cd05122	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	226	cd07841	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	193	cd05052	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	187	cd05082	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	198	cd07863	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	189	cd07860	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	212	cd07845	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	204	cd06624	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	204	cd06637	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	211	cd06618	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	236	cd05596	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	235	cd05621	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	235	cd05622	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	203	cd06647	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	214	cd07879	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	217	cd07852	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	193	cd07873	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	192	cd05072	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	209	cd05062	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	210	cd05061	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	194	cd07856	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	192	cd07871	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	192	cd07869	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	189	cd05114	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	193	cd07872	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	223	cd05050	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	202	cd07858	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	190	cd05113	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	192	cd07870	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	206	cd06616	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	193	cd07844	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	212	cd05036	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	202	cd06634	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	209	cd07850	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	206	cd07874	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	214	cd06636	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	202	cd06619	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	221	cd05097	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	228	cd06639	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	206	cd07877	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	198	cd06611	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	800	cd05123	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	185	cd05586	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	181	cd05585	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	185	cd05608	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	189	cd05577	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	183	cd05607	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	732	cd05579	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	186	cd05115	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	673	cd00180	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	259	cd05572	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	204	cd07878	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	204	cd06648	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	217	cd06638	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	213	cd07875	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	208	cd06633	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	224	cd07851	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	235	cd05043	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	184	cd05633	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	248	cd07833	4506529,NP_002920
6011	2833269	Disease	p.Val380Asp	VAR_006215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006215	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	185	cd05606	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	215	cd06657	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	215	cd07880	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	391	cd05611	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	230	cd06609	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	209	cd05597	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	244	cd06627	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	450	cd05581	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	248	cd07848	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	346	cd06606	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	246	cd06626	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	226	cd07847	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	221	cd07846	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	208	cd06621	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	207	cd06617	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	258	cd06623	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	223	cd06605	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	235	cd05045	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	261	cd05629	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	197	cd05612	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	224	cd06622	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	260	cd05598	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	207	cd05624	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	213	cd06917	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	205	cd07853	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	219	cd07837	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	199	cd06615	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	216	cd05609	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	211	cd05601	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	344	cd05573	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	247	cd05626	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	247	cd05625	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	235	cd05627	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	217	cd07857	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	262	cd05580	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	222	cd08528	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	197	cd05582	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	215	cd06629	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	299	cd07840	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	206	cd07831	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	203	cd05584	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	794	smart00220	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	239	cd05101	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	208	cd06645	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	216	cd06659	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	220	cd07864	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	194_G	cd06640	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	232	cd06652	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	252	cd06608	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	208	cd06653	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	219	cd06612	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	200	cd06641	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	207	cd06643	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	208	cd06613	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	248	cd05038	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	194_G	cd06642	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	200	cd05589	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	200	cd05605	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	200	cd05630	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	200	cd05631	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	200	cd05632	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	248	cd07866	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	210	cd05578	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	362	pfam00069	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	249	cd07838	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	866	smart00221	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	255	cd07829	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	201	cd08225	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	232	cd05118	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	294	cd07830	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	205	cd08229	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	205	cd08228	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	206	cd08224	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	215	cd07868	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	595	smart00219	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	199	cd08219	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	209	cd05080	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	230	cd07854	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	201	cd08223	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	244	cd05095	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	213	cd05074	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	200	cd08218	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	205	cd08222	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	208	cd05583	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	220	cd05613	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	206	cd05614	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	203	cd07836	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	202	cd07861	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	227	cd07835	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	215	cd07867	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	205	cd05587	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	200	cd05616	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	200	cd05615	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	223	cd06635	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	239	cd05056	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	211	cd05108	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	214	cd05109	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	211	cd05111	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	216	cd05110	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	214	cd05034	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	209	cd06625	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	225	cd06632	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	209	cd06631	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	195	cd05590	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	194	cd05595	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	210	cd05620	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	211	cd05592	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	195	cd05602	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	195	cd05571	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	195	cd05619	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	195	cd05594	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	195	cd05591	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	195	cd05617	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	195	cd05603	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	195	cd05588	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	195	cd05618	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	195	cd05575	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	197	cd05570	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	195	cd05604	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	223	cd05035	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	219	cd05044	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	197	cd05085	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	195	cd05084	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	198	cd05041	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	205	cd05060	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	198	cd05116	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	213	cd05040	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	208	cd06630	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	250	cd07832	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	441	cd00192	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	194	cd05593	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	209	cd05058	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	223	cd07843	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	207	cd08530	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	272	cd08217	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	315	cd07842	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	205	cd06620	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	206	cd08529	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	201	cd05112	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	259	cd06614	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	221	cd07876	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	217	cd06658	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	201	cd06649	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	276	cd07865	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	201	cd06650	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	236	cd05099	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	296	cd05574	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	208	cd06651	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	414	cd05599	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	398	pfam07714	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	212	cd08216	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	268	cd05600	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	265	cd05057	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	214	cd06644	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	208	cd06646	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	213	cd06607	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	214	cd06656	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	214	cd06655	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	215	cd06654	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	207	cd05623	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	244	cd07849	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	203	cd05069	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	223	cd06610	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	933	COG0515	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	266	cd05032	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	235	cd05628	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	215	cd05079	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	214	cd05081	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	204	cd05073	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	237	cd07855	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	204	cd05148	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	197	cd05083	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	209	cd05068	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	212	cd07859	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	209	cd08220	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	269	cd08215	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	199	cd07839	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	215	cd06628	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	203	cd08221	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	299	cd07834	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	244	cd05122	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	237	cd07841	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	203	cd05052	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	199	cd05082	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	209	cd07863	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	200	cd07860	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	223	cd07845	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	215	cd06624	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	214	cd06637	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	222	cd06618	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	247	cd05596	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	246	cd05621	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	246	cd05622	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	214	cd06647	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	225	cd07879	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	228	cd07852	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	204	cd07873	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	204	cd05072	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	221	cd05062	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	222	cd05061	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	205	cd07856	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	203	cd07871	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	206	cd07869	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	201	cd05114	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	204	cd07872	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	236	cd05050	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	213	cd07858	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	202	cd05113	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	203	cd07870	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	217	cd06616	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	204	cd07844	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	224	cd05036	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	214	cd06634	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	240	cd07850	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	217	cd07874	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	224	cd06636	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	213	cd06619	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	234	cd05097	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	239	cd06639	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	217	cd07877	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	209	cd06611	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	811	cd05123	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	196	cd05586	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	192	cd05585	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	196	cd05608	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	200	cd05577	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	194	cd05607	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	743	cd05579	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	198	cd05115	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	684	cd00180	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	270	cd05572	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	215	cd07878	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	215	cd06648	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	234	cd06638	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	224	cd07875	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	218	cd06633	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	235	cd07851	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	247	cd05043	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	195	cd05633	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	278	cd07833	4506529,NP_002920
6011	2833269	Disease	p.Pro391His	VAR_037904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037904	- Congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]	SWISS	196	cd05606	4506529,NP_002920
2916	239938639	Disease	p.Gly150Ser	VAR_030756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030756	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	132	pfam01094	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	VAR_030756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030756	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	140	cd06363	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	VAR_030756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030756	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	97	cd06370	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	VAR_030756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030756	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	137	cd01391	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	VAR_030756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030756	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	169	cd06350	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	VAR_030756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030756	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	116	cd06366	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	VAR_030756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030756	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	75	cd06346	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	VAR_030756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030756	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	115	cd06361	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	VAR_030756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030756	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	221	cd06269	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	VAR_030756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030756	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	125	cd06368	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	VAR_030756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030756	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	137	cd04509	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	VAR_030756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030756	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	125	cd06352	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	VAR_030756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030756	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	156	cd06268	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	VAR_030756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030756	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	141	cd06362	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	VAR_030756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030756	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	114	cd06376	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	VAR_030756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030756	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	115	cd06365	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	VAR_030756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030756	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	119	cd06375	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	VAR_030756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030756	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	269	cd06367	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	VAR_030756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030756	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	124	cd06364	110611176,NP_000834
2916	239938639	Disease	p.Gly150Ser	VAR_030756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030756	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	126	cd06374	110611176,NP_000834
2916	239938639	Disease	p.Glu781Lys	VAR_030757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030757	- Congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]	SWISS	408	pfam00003	110611176,NP_000834
2896	77416865	Disease	p.Ala9Asp	VAR_044451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044451	- Ubiquitin-positive frontotemporal dementia (UP-FTD) [MIM:607485]	SWISS	No Domain	N/A	4504151,NP_002078
389207	205780623	Disease	p.Pro38Leu	VAR_063160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063160	- Deafness autosomal recessive type 25 (DFNB25) [MIM:613285]	SWISS	No Domain	N/A	122937349,NP_001073945
389207	205780623	Disease	p.Gly64Ser	VAR_063162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063162	- Deafness autosomal recessive type 25 (DFNB25) [MIM:613285]	SWISS	No Domain	N/A	122937349,NP_001073945
389207	205780623	Disease	p.Arg138Cys	VAR_063164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063164	- Deafness autosomal recessive type 25 (DFNB25) [MIM:613285]	SWISS	No Domain	N/A	122937349,NP_001073945
389207	205780623	Disease	p.Phe153Val	VAR_063165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063165	- Deafness autosomal recessive type 25 (DFNB25) [MIM:613285]	SWISS	14	pfam00462	122937349,NP_001073945
389207	205780623	Disease	p.Phe153Val	VAR_063165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063165	- Deafness autosomal recessive type 25 (DFNB25) [MIM:613285]	SWISS	16	cd02066	122937349,NP_001073945
389207	205780623	Disease	p.Phe153Val	VAR_063165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063165	- Deafness autosomal recessive type 25 (DFNB25) [MIM:613285]	SWISS	10	cd03419	122937349,NP_001073945
389207	205780623	Disease	p.Phe153Val	VAR_063165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063165	- Deafness autosomal recessive type 25 (DFNB25) [MIM:613285]	SWISS	16	cd03031	122937349,NP_001073945
2934	121116	Disease	p.Asp214Asn	VAR_007718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007718	- Amyloidosis type 5 (AMYL5) [MIM:105120]	SWISS	46	smart00262	4504165,NP_000168
2934	121116	Disease	p.Asp214Asn	VAR_007718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007718	- Amyloidosis type 5 (AMYL5) [MIM:105120]	SWISS	19	pfam00626	4504165,NP_000168
2934	121116	Disease	p.Asp214Tyr	VAR_007719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007719	- Amyloidosis type 5 (AMYL5) [MIM:105120]	SWISS	46	smart00262	4504165,NP_000168
2934	121116	Disease	p.Asp214Tyr	VAR_007719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007719	- Amyloidosis type 5 (AMYL5) [MIM:105120]	SWISS	19	pfam00626	4504165,NP_000168
2937	1346191	Disease	p.Ala26Asp	VAR_003602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003602	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	22	cd00228	4504169,NP_000169
2937	1346191	Disease	p.Ala26Asp	VAR_003602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003602	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	22	pfam03917	4504169,NP_000169
2937	1346191	Disease	p.Leu188Pro	VAR_003603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003603	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	209	cd00228	4504169,NP_000169
2937	1346191	Disease	p.Leu188Pro	VAR_003603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003603	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	210	pfam03917	4504169,NP_000169
2937	1346191	Disease	p.Asp219Ala	VAR_003604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003604	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	255	cd00228	4504169,NP_000169
2937	1346191	Disease	p.Asp219Ala	VAR_003604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003604	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	17	pfam03199	4504169,NP_000169
2937	1346191	Disease	p.Asp219Ala	VAR_003604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003604	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	256	pfam03917	4504169,NP_000169
2937	1346191	Disease	p.Asp219Gly	VAR_003605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003605	rs28938472 Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	255	cd00228	4504169,NP_000169
2937	1346191	Disease	p.Asp219Gly	VAR_003605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003605	rs28938472 Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	17	pfam03199	4504169,NP_000169
2937	1346191	Disease	p.Asp219Gly	VAR_003605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003605	rs28938472 Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	256	pfam03917	4504169,NP_000169
2937	1346191	Disease	p.Leu254Arg	VAR_003606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003606	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	295	cd00228	4504169,NP_000169
2937	1346191	Disease	p.Leu254Arg	VAR_003606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003606	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	92	pfam03199	4504169,NP_000169
2937	1346191	Disease	p.Leu254Arg	VAR_003606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003606	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	302	pfam03917	4504169,NP_000169
2937	1346191	Disease	p.Arg267Trp	VAR_003607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003607	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	312	cd00228	4504169,NP_000169
2937	1346191	Disease	p.Arg267Trp	VAR_003607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003607	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	126	pfam03199	4504169,NP_000169
2937	1346191	Disease	p.Arg267Trp	VAR_003607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003607	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	315	pfam03917	4504169,NP_000169
2937	1346191	Disease	p.Tyr270Cys	VAR_003608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003608	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	315	cd00228	4504169,NP_000169
2937	1346191	Disease	p.Tyr270Cys	VAR_003608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003608	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	129	pfam03199	4504169,NP_000169
2937	1346191	Disease	p.Tyr270Cys	VAR_003608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003608	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	318	pfam03917	4504169,NP_000169
2937	1346191	Disease	p.Tyr270His	VAR_003609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003609	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	315	cd00228	4504169,NP_000169
2937	1346191	Disease	p.Tyr270His	VAR_003609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003609	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	129	pfam03199	4504169,NP_000169
2937	1346191	Disease	p.Tyr270His	VAR_003609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003609	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	318	pfam03917	4504169,NP_000169
2937	1346191	Disease	p.Arg283Cys	VAR_003610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003610	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	329	cd00228	4504169,NP_000169
2937	1346191	Disease	p.Arg283Cys	VAR_003610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003610	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	163	pfam03199	4504169,NP_000169
2937	1346191	Disease	p.Arg283Cys	VAR_003610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003610	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	332	pfam03917	4504169,NP_000169
2937	1346191	Disease	p.Leu286Gln	VAR_003611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003611	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	332	cd00228	4504169,NP_000169
2937	1346191	Disease	p.Leu286Gln	VAR_003611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003611	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	166	pfam03199	4504169,NP_000169
2937	1346191	Disease	p.Leu286Gln	VAR_003611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003611	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	335	pfam03917	4504169,NP_000169
2937	1346191	Disease	p.Arg330Cys	VAR_003612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003612	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	376	cd00228	4504169,NP_000169
2937	1346191	Disease	p.Arg330Cys	VAR_003612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003612	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	379	pfam03917	4504169,NP_000169
2937	1346191	Disease	p.Gly464Val	VAR_003613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003613	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	521	cd00228	4504169,NP_000169
2937	1346191	Disease	p.Gly464Val	VAR_003613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003613	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	519	pfam03917	4504169,NP_000169
2937	1346191	Disease	p.Asp469Glu	VAR_003614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003614	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	526	cd00228	4504169,NP_000169
2937	1346191	Disease	p.Asp469Glu	VAR_003614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003614	- Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]	SWISS	524	pfam03917	4504169,NP_000169
404672	67462047	Disease	p.Leu21Pro	VAR_022647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022647	- Trichothiodystrophy photosensitive (TTDP) [MIM:601675]	SWISS	21	pfam06331	46359855,NP_997001
2978	46577585	Disease	p.Pro50Leu	VAR_010648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010648	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	50	cd00051	40254415,NP_000400
2978	46577585	Disease	p.Pro50Leu	VAR_010648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010648	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	63	COG5126	40254415,NP_000400
2978	46577585	Disease	p.Glu89Lys	VAR_060802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060802	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	111	COG5126	40254415,NP_000400
2978	46577585	Disease	p.Tyr99Cys	VAR_001372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001372	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	9	smart00054	40254415,NP_000400
2978	46577585	Disease	p.Tyr99Cys	VAR_001372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001372	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	9	pfam00036	40254415,NP_000400
2978	46577585	Disease	p.Tyr99Cys	VAR_001372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001372	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	9	cd00051	40254415,NP_000400
2978	46577585	Disease	p.Tyr99Cys	VAR_001372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001372	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	121	COG5126	40254415,NP_000400
2978	46577585	Disease	p.Asp100Glu	VAR_060803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060803	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	10	smart00054	40254415,NP_000400
2978	46577585	Disease	p.Asp100Glu	VAR_060803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060803	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	10	pfam00036	40254415,NP_000400
2978	46577585	Disease	p.Asp100Glu	VAR_060803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060803	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	10	cd00051	40254415,NP_000400
2978	46577585	Disease	p.Asp100Glu	VAR_060803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060803	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	122	COG5126	40254415,NP_000400
2978	46577585	Disease	p.Leu151Phe	VAR_060806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060806	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	71	cd00051	40254415,NP_000400
2978	46577585	Disease	p.Leu151Phe	VAR_060806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060806	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	17	smart00054	40254415,NP_000400
2978	46577585	Disease	p.Leu151Phe	VAR_060806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060806	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	17	pfam00036	40254415,NP_000400
2978	46577585	Disease	p.Leu151Phe	VAR_060806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060806	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	177	COG5126	40254415,NP_000400
2978	46577585	Disease	p.Glu155Gly	VAR_012987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012987	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	75	cd00051	40254415,NP_000400
2978	46577585	Disease	p.Glu155Gly	VAR_012987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012987	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	21	smart00054	40254415,NP_000400
2978	46577585	Disease	p.Glu155Gly	VAR_012987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012987	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	21	pfam00036	40254415,NP_000400
2978	46577585	Disease	p.Glu155Gly	VAR_012987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012987	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	181	COG5126	40254415,NP_000400
2978	46577585	Disease	p.Gly159Val	VAR_060807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060807	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	79	cd00051	40254415,NP_000400
2978	46577585	Disease	p.Gly159Val	VAR_060807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060807	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	25	smart00054	40254415,NP_000400
2978	46577585	Disease	p.Gly159Val	VAR_060807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060807	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	25	pfam00036	40254415,NP_000400
2978	46577585	Disease	p.Gly159Val	VAR_060807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060807	- Cone dystrophy type 3 (COD3) [MIM:602093]	SWISS	185	COG5126	40254415,NP_000400
3000	1345920	Disease	p.Ala52Ser	VAR_003435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003435	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	No Domain	N/A	4504217,NP_000171
3000	1345920	Disease	p.Cys105Tyr	VAR_023770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023770	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	67	pfam01094	4504217,NP_000171
3000	1345920	Disease	p.Cys105Tyr	VAR_023770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023770	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	81	cd04509	4504217,NP_000171
3000	1345920	Disease	p.Cys105Tyr	VAR_023770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023770	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	81	cd01391	4504217,NP_000171
3000	1345920	Disease	p.Cys105Tyr	VAR_023770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023770	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	51	cd06371	4504217,NP_000171
3000	1345920	Disease	p.Cys105Tyr	VAR_023770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023770	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	70	cd06373	4504217,NP_000171
3000	1345920	Disease	p.Cys105Tyr	VAR_023770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023770	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	57	cd06366	4504217,NP_000171
3000	1345920	Disease	p.Cys105Tyr	VAR_023770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023770	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	89	cd06268	4504217,NP_000171
3000	1345920	Disease	p.Cys105Tyr	VAR_023770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023770	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	51	cd06372	4504217,NP_000171
3000	1345920	Disease	p.Cys105Tyr	VAR_023770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023770	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	147	cd06269	4504217,NP_000171
3000	1345920	Disease	p.Cys105Tyr	VAR_023770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023770	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	75	cd06352	4504217,NP_000171
3000	1345920	Disease	p.Cys105Tyr	VAR_023770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023770	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	57	cd06370	4504217,NP_000171
3000	1345920	Disease	p.Leu325Pro	VAR_023771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023771	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	507	pfam01094	4504217,NP_000171
3000	1345920	Disease	p.Leu325Pro	VAR_023771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023771	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	499	cd04509	4504217,NP_000171
3000	1345920	Disease	p.Leu325Pro	VAR_023771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023771	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	517	cd01391	4504217,NP_000171
3000	1345920	Disease	p.Leu325Pro	VAR_023771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023771	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	330	cd06371	4504217,NP_000171
3000	1345920	Disease	p.Leu325Pro	VAR_023771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023771	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	386	cd06373	4504217,NP_000171
3000	1345920	Disease	p.Leu325Pro	VAR_023771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023771	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	369	cd06366	4504217,NP_000171
3000	1345920	Disease	p.Leu325Pro	VAR_023771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023771	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	430	cd06268	4504217,NP_000171
3000	1345920	Disease	p.Leu325Pro	VAR_023771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023771	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	275	cd06372	4504217,NP_000171
3000	1345920	Disease	p.Leu325Pro	VAR_023771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023771	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	753	cd06269	4504217,NP_000171
3000	1345920	Disease	p.Leu325Pro	VAR_023771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023771	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	474	cd06352	4504217,NP_000171
3000	1345920	Disease	p.Leu325Pro	VAR_023771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023771	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	334	cd06370	4504217,NP_000171
3000	1345920	Disease	p.Ala362Ser	VAR_009129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009129	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	681	pfam01094	4504217,NP_000171
3000	1345920	Disease	p.Ala362Ser	VAR_009129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009129	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	536	cd04509	4504217,NP_000171
3000	1345920	Disease	p.Ala362Ser	VAR_009129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009129	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	554	cd01391	4504217,NP_000171
3000	1345920	Disease	p.Ala362Ser	VAR_009129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009129	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	374	cd06371	4504217,NP_000171
3000	1345920	Disease	p.Ala362Ser	VAR_009129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009129	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	428	cd06373	4504217,NP_000171
3000	1345920	Disease	p.Ala362Ser	VAR_009129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009129	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	448	cd06366	4504217,NP_000171
3000	1345920	Disease	p.Ala362Ser	VAR_009129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009129	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	487	cd06268	4504217,NP_000171
3000	1345920	Disease	p.Ala362Ser	VAR_009129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009129	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	317	cd06372	4504217,NP_000171
3000	1345920	Disease	p.Ala362Ser	VAR_009129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009129	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	858	cd06269	4504217,NP_000171
3000	1345920	Disease	p.Ala362Ser	VAR_009129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009129	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	544	cd06352	4504217,NP_000171
3000	1345920	Disease	p.Ala362Ser	VAR_009129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009129	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	410	cd06370	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	27	cd05148	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	27	cd05070	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	27	cd05068	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	66	cd05056	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	26	cd07834	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	32	cd05049	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	26	cd05050	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	37	cd05083	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	27	cd05071	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	6	cd05122	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	43	cd06628	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	29_G	cd05111	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	33	cd05048	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	43	cd05038	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	41	cd05081	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	25	cd05113	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	44	cd05079	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	33	cd05088	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	41	cd05080	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	131	smart00219	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	56	pfam07714	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	32	cd05118	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	24	cd05058	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	28	cd05085	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	23	cd05044	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	64	cd00192	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	35	cd07829	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	27	cd05069	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	42	pfam00069	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	51	cd05037	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	33	cd05036	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	18	cd05040	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	16	cd05084	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	16	cd05041	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	30	cd06613	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	27	cd05073	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	27	cd05067	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	37	cd05039	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	24	cd06648	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	23	cd06614	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	46	cd06606	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	79	smart00220	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	31	cd05065	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	30	cd05052	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	33	cd05062	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	32	cd05032	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	27	cd05072	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	34	cd05051	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	27	cd05066	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	25	cd05114	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	25	cd05112	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	53	cd05033	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	25	cd05059	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	29	cd05063	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	27	cd05034	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	12	cd05042	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	150	smart00221	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	37	cd05082	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	28	cd05064	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	66	cd00180	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	32	cd05043	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	41	cd05053	4504217,NP_000171
3000	1345920	Disease	p.Phe565Ser	VAR_009131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009131	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	93	cd05102	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	36	cd05148	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	35	cd05070	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	35	cd05068	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	75	cd05056	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	48	cd07834	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	40	cd05049	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	40	cd05050	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	44_G	cd05083	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	36	cd06626	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	35	cd05071	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	48	cd05122	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	51	cd06628	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	37	cd05111	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	41	cd05048	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	48	cd05038	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	49	cd05081	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	33	cd05113	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	51_G	cd05079	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	40_G	cd05088	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	49	cd05080	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	171	smart00219	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	67	pfam07714	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	41	cd05118	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	31	cd05058	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	38	cd05085	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	31	cd05044	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	72	cd00192	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	45	cd07829	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	35	cd05069	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	51	pfam00069	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	59	cd05037	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	41	cd05036	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	35	cd05040	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	25	cd05084	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	25	cd05041	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	38	cd06613	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	35	cd05073	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	35	cd05067	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	41_G	cd05039	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	49	cd06648	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	40	cd06614	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	54	cd06606	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	102	smart00220	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	37	cd05065	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	36	cd05052	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	41	cd05062	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	68	cd05032	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	35	cd05072	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	74	cd05051	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	35	cd05066	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	33	cd05114	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	33	cd05112	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	61	cd05033	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	33	cd05059	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	37	cd05063	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	35	cd05034	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	23	cd05042	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	228	smart00221	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	42	cd05082	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	36	cd05064	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	131	cd00180	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	53	cd05043	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	49	cd05053	4504217,NP_000171
3000	1345920	Disease	p.Ile573Val	VAR_009130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009130	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	103	cd05102	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	170	cd05148	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	162	cd05070	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	165	cd05068	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	197	cd05056	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	210	cd07834	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	198_G	cd05049	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	191_G	cd05050	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	160	cd05083	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	167	cd06626	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	162	cd05071	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	190	cd05122	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	168	cd06628	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	171	cd05111	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	193_G	cd05048	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	189	cd05038	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	171	cd05081	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	161	cd05113	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	169	cd05079	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	186	cd05088	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	161	cd05080	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	532	smart00219	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	346	pfam07714	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	169_G	cd05118	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	165	cd05058	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	154	cd05085	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	182_G	cd05044	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	395	cd00192	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	208	cd07829	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	162	cd05069	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	289	pfam00069	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	184	cd05037	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	187_G	cd05036	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	178_G	cd05040	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	153	cd05084	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	151_G	cd05041	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	167	cd06613	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	163	cd05073	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	162	cd05067	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	163_G	cd05039	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	171	cd06648	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	275	cd06614	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	275	cd06606	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	563	smart00220	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	166	cd05065	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	164	cd05052	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	180	cd05062	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	220_G	cd05032	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	163	cd05072	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	236_G	cd05051	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	166	cd05066	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	160	cd05114	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	160	cd05112	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	197	cd05033	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	153_G	cd05059	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	165	cd05063	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	170	cd05034	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	169_G	cd05042	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	685	smart00221	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	162	cd05082	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	168	cd05064	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	619	cd00180	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	197	cd05043	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	208_G	cd05053	4504217,NP_000171
3000	1345920	Disease	p.Pro701Ser	VAR_009132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009132	rs34598902 Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	238	cd05102	4504217,NP_000171
3000	1345920	Disease	p.Glu837Asp	VAR_003436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003436	rs28933695 Cone-rod dystrophy type 6 (CORD6) [MIM:601777]	SWISS	30	COG2114	4504217,NP_000171
3000	1345920	Disease	p.Glu837Asp	VAR_003436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003436	rs28933695 Cone-rod dystrophy type 6 (CORD6) [MIM:601777]	SWISS	523	cd07834	4504217,NP_000171
3000	1345920	Disease	p.Glu837Asp	VAR_003436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003436	rs28933695 Cone-rod dystrophy type 6 (CORD6) [MIM:601777]	SWISS	334_G	pfam07701	4504217,NP_000171
3000	1345920	Disease	p.Arg838Cys	VAR_003437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003437	- Cone-rod dystrophy type 6 (CORD6) [MIM:601777]	SWISS	31	COG2114	4504217,NP_000171
3000	1345920	Disease	p.Arg838Cys	VAR_003437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003437	- Cone-rod dystrophy type 6 (CORD6) [MIM:601777]	SWISS	524	cd07834	4504217,NP_000171
3000	1345920	Disease	p.Arg838Cys	VAR_003437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003437	- Cone-rod dystrophy type 6 (CORD6) [MIM:601777]	SWISS	334_G	pfam07701	4504217,NP_000171
3000	1345920	Disease	p.Arg838His	VAR_015373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015373	- Cone-rod dystrophy type 6 (CORD6) [MIM:601777]	SWISS	31	COG2114	4504217,NP_000171
3000	1345920	Disease	p.Arg838His	VAR_015373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015373	- Cone-rod dystrophy type 6 (CORD6) [MIM:601777]	SWISS	524	cd07834	4504217,NP_000171
3000	1345920	Disease	p.Arg838His	VAR_015373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015373	- Cone-rod dystrophy type 6 (CORD6) [MIM:601777]	SWISS	334_G	pfam07701	4504217,NP_000171
3000	1345920	Disease	p.Pro858Ser	VAR_009134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009134	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	53	COG2114	4504217,NP_000171
3000	1345920	Disease	p.Pro858Ser	VAR_009134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009134	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	15	smart00044	4504217,NP_000171
3000	1345920	Disease	p.Pro858Ser	VAR_009134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009134	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	352	pfam07701	4504217,NP_000171
3000	1345920	Disease	p.Leu954Pro	VAR_009135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009135	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	268	COG2114	4504217,NP_000171
3000	1345920	Disease	p.Leu954Pro	VAR_009135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009135	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	279	smart00044	4504217,NP_000171
3000	1345920	Disease	p.Leu954Pro	VAR_009135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009135	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	122	pfam00211	4504217,NP_000171
3000	1345920	Disease	p.Leu954Pro	VAR_009135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009135	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	161	cd07302	4504217,NP_000171
3000	1345920	Disease	p.Leu954Pro	VAR_009135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009135	- Leber congenital amaurosis type 1 (LCA1) [MIM:204000]	SWISS	94	cd07556	4504217,NP_000171
2990	146345377	Disease	p.Pro30Ser	VAR_058511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058511	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	No Domain	N/A	268834192,NP_000172
2990	146345377	Disease	p.Cys38Gly	VAR_037914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037914	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	4	pfam02837	268834192,NP_000172
2990	146345377	Disease	p.Ser52Phe	VAR_037915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037915	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	25	pfam02837	268834192,NP_000172
2990	146345377	Disease	p.Gly136Arg	VAR_037916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037916	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	199	pfam02837	268834192,NP_000172
2990	146345377	Disease	p.Pro148Ser	VAR_037917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037917	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	212	pfam02837	268834192,NP_000172
2990	146345377	Disease	p.Glu150Lys	VAR_037918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037918	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	214	pfam02837	268834192,NP_000172
2990	146345377	Disease	p.Asp152Gly	VAR_058512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058512	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	216	pfam02837	268834192,NP_000172
2990	146345377	Disease	p.Leu176Phe	VAR_037920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037920	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	246	pfam02837	268834192,NP_000172
2990	146345377	Disease	p.Arg216Trp	VAR_003196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003196	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	295	pfam02837	268834192,NP_000172
2990	146345377	Disease	p.Leu243Pro	VAR_058513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058513	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	36	pfam00703	268834192,NP_000172
2990	146345377	Disease	p.Tyr320Cys	VAR_037921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037921	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	182	pfam00703	268834192,NP_000172
2990	146345377	Disease	p.Tyr320Ser	VAR_037922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037922	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	182	pfam00703	268834192,NP_000172
2990	146345377	Disease	p.Asn339Ser	VAR_058514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058514	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	12	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Lys350Asn	VAR_037923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037923	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	23	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.His351Tyr	VAR_037924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037924	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	24	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Ala354Val	VAR_003197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003197	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	27	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Asp362Asn	VAR_058516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058516	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	35	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Pro364Leu	VAR_058517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058517	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	37	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Arg374Cys	VAR_037925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037925	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	47	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Arg382Cys	VAR_003198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003198	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	56	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Arg382His	VAR_037926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037926	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	56	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Pro408Ser	VAR_037927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037927	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	82	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Pro415Leu	VAR_037928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037928	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	89	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Arg435Pro	VAR_037929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037929	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	136	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Arg477Trp	VAR_037930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037930	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	179	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Tyr495Cys	VAR_037931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037931	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	202	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Tyr508Cys	VAR_037932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037932	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	215	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Glu540Lys	VAR_058518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058518	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	265	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Gly572Asp	VAR_037933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037933	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	301	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Arg577Leu	VAR_037934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037934	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	306	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Lys606Asn	VAR_037935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037935	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	339	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Gly607Ala	VAR_058519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058519	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	340	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Arg611Trp	VAR_003199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003199	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	344	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Ala619Val	VAR_003200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003200	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	352	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Tyr626His	VAR_037936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037936	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	359	pfam02836	268834192,NP_000172
2990	146345377	Disease	p.Trp627Cys	VAR_003201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003201	- Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]	SWISS	360	pfam02836	268834192,NP_000172
2992	13432151	Disease	p.Thr93Met	VAR_063768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063768	- Glycogen storage disease type 15 (GSD15) [MIM:613507]	SWISS	211	pfam01501	20127457,NP_004121
2992	13432151	Disease	p.Thr93Met	VAR_063768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063768	- Glycogen storage disease type 15 (GSD15) [MIM:613507]	SWISS	127	cd02537	20127457,NP_004121
2992	13432151	Disease	p.Thr93Met	VAR_063768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063768	- Glycogen storage disease type 15 (GSD15) [MIM:613507]	SWISS	104	cd00505	20127457,NP_004121
2992	13432151	Disease	p.Thr93Met	VAR_063768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063768	- Glycogen storage disease type 15 (GSD15) [MIM:613507]	SWISS	151	cd04194	20127457,NP_004121
2992	13432151	Disease	p.Thr93Met	VAR_063768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063768	- Glycogen storage disease type 15 (GSD15) [MIM:613507]	SWISS	113	cd06914	20127457,NP_004121
2998	288558811	Disease	p.Asn39Ser	VAR_007860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007860	- Glycogen storage disease type 0 (GSD0) [MIM:240600]	SWISS	13	cd03793	119372286,NP_068776
2998	288558811	Disease	p.Asn39Ser	VAR_007860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007860	- Glycogen storage disease type 0 (GSD0) [MIM:240600]	SWISS	8	pfam05693	119372286,NP_068776
2998	288558811	Disease	p.Asn39Ser	VAR_007860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007860	- Glycogen storage disease type 0 (GSD0) [MIM:240600]	SWISS	7	cd01635	119372286,NP_068776
2998	288558811	Disease	p.Ala339Pro	VAR_007861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007861	- Glycogen storage disease type 0 (GSD0) [MIM:240600]	SWISS	333	cd03793	119372286,NP_068776
2998	288558811	Disease	p.Ala339Pro	VAR_007861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007861	- Glycogen storage disease type 0 (GSD0) [MIM:240600]	SWISS	326	pfam05693	119372286,NP_068776
2998	288558811	Disease	p.Ala339Pro	VAR_007861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007861	- Glycogen storage disease type 0 (GSD0) [MIM:240600]	SWISS	540	cd01635	119372286,NP_068776
2998	288558811	Disease	p.His446Asp	VAR_007862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007862	- Glycogen storage disease type 0 (GSD0) [MIM:240600]	SWISS	455	cd03793	119372286,NP_068776
2998	288558811	Disease	p.His446Asp	VAR_007862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007862	- Glycogen storage disease type 0 (GSD0) [MIM:240600]	SWISS	448	pfam05693	119372286,NP_068776
2998	288558811	Disease	p.His446Asp	VAR_007862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007862	- Glycogen storage disease type 0 (GSD0) [MIM:240600]	SWISS	657	cd01635	119372286,NP_068776
2998	288558811	Disease	p.Pro479Gln	VAR_007863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007863	- Glycogen storage disease type 0 (GSD0) [MIM:240600]	SWISS	488	cd03793	119372286,NP_068776
2998	288558811	Disease	p.Pro479Gln	VAR_007863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007863	- Glycogen storage disease type 0 (GSD0) [MIM:240600]	SWISS	481	pfam05693	119372286,NP_068776
2998	288558811	Disease	p.Pro479Gln	VAR_007863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007863	- Glycogen storage disease type 0 (GSD0) [MIM:240600]	SWISS	690	cd01635	119372286,NP_068776
2998	288558811	Disease	p.Ser483Pro	VAR_007864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007864	- Glycogen storage disease type 0 (GSD0) [MIM:240600]	SWISS	492	cd03793	119372286,NP_068776
2998	288558811	Disease	p.Ser483Pro	VAR_007864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007864	- Glycogen storage disease type 0 (GSD0) [MIM:240600]	SWISS	485	pfam05693	119372286,NP_068776
2998	288558811	Disease	p.Ser483Pro	VAR_007864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007864	- Glycogen storage disease type 0 (GSD0) [MIM:240600]	SWISS	694	cd01635	119372286,NP_068776
2998	288558811	Disease	p.Met491Arg	VAR_007865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007865	- Glycogen storage disease type 0 (GSD0) [MIM:240600]	SWISS	500	cd03793	119372286,NP_068776
2998	288558811	Disease	p.Met491Arg	VAR_007865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007865	- Glycogen storage disease type 0 (GSD0) [MIM:240600]	SWISS	493	pfam05693	119372286,NP_068776
2998	288558811	Disease	p.Met491Arg	VAR_007865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007865	- Glycogen storage disease type 0 (GSD0) [MIM:240600]	SWISS	707	cd01635	119372286,NP_068776
3033	311033442	Disease	p.Ala40Thr	VAR_024079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024079	- 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]	SWISS	16	COG1250	NULL
3033	311033442	Disease	p.Ala40Thr	VAR_024079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024079	- 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]	SWISS	13	pfam02737	NULL
3033	311033442	Disease	p.Asp57Glu	VAR_024080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024080	- 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]	SWISS	38	COG1250	NULL
3033	311033442	Disease	p.Asp57Glu	VAR_024080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024080	- 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]	SWISS	31	pfam02737	NULL
3033	311033442	Disease	p.Pro258Leu	VAR_024081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024081	- Familial hyperinsulinemic hypoglycemia type 4 (HHF4) [MIM:609975]	SWISS	280	COG1250	NULL
3033	311033442	Disease	p.Pro258Leu	VAR_024081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024081	- Familial hyperinsulinemic hypoglycemia type 4 (HHF4) [MIM:609975]	SWISS	44	pfam00725	NULL
3030	20141376	Disease	p.Val282Asp	VAR_021125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021125	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	354	COG1024	20127408,NP_000173
3030	20141376	Disease	p.Ile305Asn	VAR_021126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021126	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	379	COG1024	20127408,NP_000173
3030	20141376	Disease	p.Leu342Pro	VAR_021127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021127	- Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016]	SWISS	423	COG1024	20127408,NP_000173
3030	20141376	Disease	p.Glu510Gln	VAR_002273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002273	- Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016]	SWISS	174	pfam02737	20127408,NP_000173
3030	20141376	Disease	p.Glu510Gln	VAR_002273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002273	- Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016]	SWISS	196	COG1250	20127408,NP_000173
3030	20141376	Disease	p.Glu510Gln	VAR_002273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002273	- Maternal acute fatty liver of pregnancy (AFLP) [MIM:609016]	SWISS	174	pfam02737	20127408,NP_000173
3030	20141376	Disease	p.Glu510Gln	VAR_002273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002273	- Maternal acute fatty liver of pregnancy (AFLP) [MIM:609016]	SWISS	196	COG1250	20127408,NP_000173
3032	116241345	Disease	p.Gly59Asp	VAR_021128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021128	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	66	cd00327	4504327,NP_000174
3032	116241345	Disease	p.Gly59Asp	VAR_021128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021128	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	3	cd00829	4504327,NP_000174
3032	116241345	Disease	p.Gly59Asp	VAR_021128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021128	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	3	cd00826	4504327,NP_000174
3032	116241345	Disease	p.Gly59Asp	VAR_021128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021128	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	9	COG0183	4504327,NP_000174
3032	116241345	Disease	p.Gly59Asp	VAR_021128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021128	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	9	pfam00108	4504327,NP_000174
3032	116241345	Disease	p.Gly59Asp	VAR_021128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021128	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	5	cd00751	4504327,NP_000174
3032	116241345	Disease	p.Arg61Cys	VAR_021129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021129	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	68	cd00327	4504327,NP_000174
3032	116241345	Disease	p.Arg61Cys	VAR_021129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021129	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	5	cd00829	4504327,NP_000174
3032	116241345	Disease	p.Arg61Cys	VAR_021129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021129	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	5	cd00826	4504327,NP_000174
3032	116241345	Disease	p.Arg61Cys	VAR_021129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021129	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	11	COG0183	4504327,NP_000174
3032	116241345	Disease	p.Arg61Cys	VAR_021129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021129	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	11	pfam00108	4504327,NP_000174
3032	116241345	Disease	p.Arg61Cys	VAR_021129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021129	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	7	cd00751	4504327,NP_000174
3032	116241345	Disease	p.Arg61His	VAR_007493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007493	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	68	cd00327	4504327,NP_000174
3032	116241345	Disease	p.Arg61His	VAR_007493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007493	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	5	cd00829	4504327,NP_000174
3032	116241345	Disease	p.Arg61His	VAR_007493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007493	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	5	cd00826	4504327,NP_000174
3032	116241345	Disease	p.Arg61His	VAR_007493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007493	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	11	COG0183	4504327,NP_000174
3032	116241345	Disease	p.Arg61His	VAR_007493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007493	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	11	pfam00108	4504327,NP_000174
3032	116241345	Disease	p.Arg61His	VAR_007493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007493	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	7	cd00751	4504327,NP_000174
3032	116241345	Disease	p.Arg117Gly	VAR_021130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021130	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	157	cd00327	4504327,NP_000174
3032	116241345	Disease	p.Arg117Gly	VAR_021130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021130	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	79	cd00829	4504327,NP_000174
3032	116241345	Disease	p.Arg117Gly	VAR_021130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021130	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	64	cd00826	4504327,NP_000174
3032	116241345	Disease	p.Arg117Gly	VAR_021130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021130	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	109	COG0183	4504327,NP_000174
3032	116241345	Disease	p.Arg117Gly	VAR_021130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021130	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	73	pfam00108	4504327,NP_000174
3032	116241345	Disease	p.Arg117Gly	VAR_021130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021130	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	104	cd00751	4504327,NP_000174
3032	116241345	Disease	p.Leu121Pro	VAR_021131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021131	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	161	cd00327	4504327,NP_000174
3032	116241345	Disease	p.Leu121Pro	VAR_021131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021131	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	83	cd00829	4504327,NP_000174
3032	116241345	Disease	p.Leu121Pro	VAR_021131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021131	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	68	cd00826	4504327,NP_000174
3032	116241345	Disease	p.Leu121Pro	VAR_021131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021131	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	113	COG0183	4504327,NP_000174
3032	116241345	Disease	p.Leu121Pro	VAR_021131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021131	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	77	pfam00108	4504327,NP_000174
3032	116241345	Disease	p.Leu121Pro	VAR_021131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021131	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	108	cd00751	4504327,NP_000174
3032	116241345	Disease	p.Thr133Pro	VAR_021132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021132	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	173	cd00327	4504327,NP_000174
3032	116241345	Disease	p.Thr133Pro	VAR_021132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021132	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	104	cd00829	4504327,NP_000174
3032	116241345	Disease	p.Thr133Pro	VAR_021132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021132	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	80	cd00826	4504327,NP_000174
3032	116241345	Disease	p.Thr133Pro	VAR_021132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021132	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	128	COG0183	4504327,NP_000174
3032	116241345	Disease	p.Thr133Pro	VAR_021132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021132	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	89	pfam00108	4504327,NP_000174
3032	116241345	Disease	p.Thr133Pro	VAR_021132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021132	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	121	cd00751	4504327,NP_000174
3032	116241345	Disease	p.Asp242Gly	VAR_021133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021133	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	266	cd00327	4504327,NP_000174
3032	116241345	Disease	p.Asp242Gly	VAR_021133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021133	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	229	cd00829	4504327,NP_000174
3032	116241345	Disease	p.Asp242Gly	VAR_021133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021133	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	180	cd00826	4504327,NP_000174
3032	116241345	Disease	p.Asp242Gly	VAR_021133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021133	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	249	COG0183	4504327,NP_000174
3032	116241345	Disease	p.Asp242Gly	VAR_021133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021133	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	199	pfam00108	4504327,NP_000174
3032	116241345	Disease	p.Asp242Gly	VAR_021133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021133	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	267	cd00751	4504327,NP_000174
3032	116241345	Disease	p.Arg247His	VAR_007494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007494	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	271	cd00327	4504327,NP_000174
3032	116241345	Disease	p.Arg247His	VAR_007494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007494	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	233_G	cd00829	4504327,NP_000174
3032	116241345	Disease	p.Arg247His	VAR_007494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007494	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	185	cd00826	4504327,NP_000174
3032	116241345	Disease	p.Arg247His	VAR_007494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007494	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	254	COG0183	4504327,NP_000174
3032	116241345	Disease	p.Arg247His	VAR_007494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007494	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	204	pfam00108	4504327,NP_000174
3032	116241345	Disease	p.Arg247His	VAR_007494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007494	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	272	cd00751	4504327,NP_000174
3032	116241345	Disease	p.Asp263Gly	VAR_007495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007495	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	287	cd00327	4504327,NP_000174
3032	116241345	Disease	p.Asp263Gly	VAR_007495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007495	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	250	cd00829	4504327,NP_000174
3032	116241345	Disease	p.Asp263Gly	VAR_007495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007495	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	201	cd00826	4504327,NP_000174
3032	116241345	Disease	p.Asp263Gly	VAR_007495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007495	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	281	COG0183	4504327,NP_000174
3032	116241345	Disease	p.Asp263Gly	VAR_007495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007495	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	221	pfam00108	4504327,NP_000174
3032	116241345	Disease	p.Asp263Gly	VAR_007495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007495	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	299	cd00751	4504327,NP_000174
3032	116241345	Disease	p.Gly280Asp	VAR_021135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021135	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	308	cd00327	4504327,NP_000174
3032	116241345	Disease	p.Gly280Asp	VAR_021135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021135	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	270	cd00829	4504327,NP_000174
3032	116241345	Disease	p.Gly280Asp	VAR_021135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021135	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	222	cd00826	4504327,NP_000174
3032	116241345	Disease	p.Gly280Asp	VAR_021135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021135	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	312	COG0183	4504327,NP_000174
3032	116241345	Disease	p.Gly280Asp	VAR_021135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021135	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	246	pfam00108	4504327,NP_000174
3032	116241345	Disease	p.Gly280Asp	VAR_021135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021135	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	329	cd00751	4504327,NP_000174
3032	116241345	Disease	p.Pro294Leu	VAR_021136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021136	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	323	cd00327	4504327,NP_000174
3032	116241345	Disease	p.Pro294Leu	VAR_021136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021136	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	287	cd00829	4504327,NP_000174
3032	116241345	Disease	p.Pro294Leu	VAR_021136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021136	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	239	cd00826	4504327,NP_000174
3032	116241345	Disease	p.Pro294Leu	VAR_021136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021136	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	336	COG0183	4504327,NP_000174
3032	116241345	Disease	p.Pro294Leu	VAR_021136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021136	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	261	pfam00108	4504327,NP_000174
3032	116241345	Disease	p.Pro294Leu	VAR_021136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021136	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	354	cd00751	4504327,NP_000174
3032	116241345	Disease	p.Pro294Arg	VAR_021137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021137	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	323	cd00327	4504327,NP_000174
3032	116241345	Disease	p.Pro294Arg	VAR_021137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021137	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	287	cd00829	4504327,NP_000174
3032	116241345	Disease	p.Pro294Arg	VAR_021137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021137	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	239	cd00826	4504327,NP_000174
3032	116241345	Disease	p.Pro294Arg	VAR_021137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021137	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	336	COG0183	4504327,NP_000174
3032	116241345	Disease	p.Pro294Arg	VAR_021137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021137	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	261	pfam00108	4504327,NP_000174
3032	116241345	Disease	p.Pro294Arg	VAR_021137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021137	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	354	cd00751	4504327,NP_000174
3032	116241345	Disease	p.Gly301Ser	VAR_021138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021138	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	329	cd00327	4504327,NP_000174
3032	116241345	Disease	p.Gly301Ser	VAR_021138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021138	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	287_G	cd00829	4504327,NP_000174
3032	116241345	Disease	p.Gly301Ser	VAR_021138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021138	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	245	cd00826	4504327,NP_000174
3032	116241345	Disease	p.Gly301Ser	VAR_021138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021138	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	345	COG0183	4504327,NP_000174
3032	116241345	Disease	p.Gly301Ser	VAR_021138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021138	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	268	pfam00108	4504327,NP_000174
3032	116241345	Disease	p.Gly301Ser	VAR_021138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021138	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	386	cd00751	4504327,NP_000174
3032	116241345	Disease	p.Arg444Lys	VAR_017409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017409	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	508	cd00327	4504327,NP_000174
3032	116241345	Disease	p.Arg444Lys	VAR_017409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017409	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	488	cd00829	4504327,NP_000174
3032	116241345	Disease	p.Arg444Lys	VAR_017409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017409	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	399	cd00826	4504327,NP_000174
3032	116241345	Disease	p.Arg444Lys	VAR_017409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017409	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	556	COG0183	4504327,NP_000174
3032	116241345	Disease	p.Arg444Lys	VAR_017409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017409	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	115	pfam02803	4504327,NP_000174
3032	116241345	Disease	p.Arg444Lys	VAR_017409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017409	- Trifunctional protein deficiency (TFP deficiency) [MIM:609015]	SWISS	554	cd00751	4504327,NP_000174
3034	1170423	Disease	p.Arg206Thr	VAR_022915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022915	- Histidinemia [MIM:235800]	SWISS	162	cd00332	4504333,NP_002099
3034	1170423	Disease	p.Arg206Thr	VAR_022915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022915	- Histidinemia [MIM:235800]	SWISS	233	pfam00221	4504333,NP_002099
3034	1170423	Disease	p.Arg206Thr	VAR_022915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022915	- Histidinemia [MIM:235800]	SWISS	108	COG2986	4504333,NP_002099
3034	1170423	Disease	p.Arg208Leu	VAR_022916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022916	- Histidinemia [MIM:235800]	SWISS	164	cd00332	4504333,NP_002099
3034	1170423	Disease	p.Arg208Leu	VAR_022916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022916	- Histidinemia [MIM:235800]	SWISS	2	cd01594	4504333,NP_002099
3034	1170423	Disease	p.Arg208Leu	VAR_022916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022916	- Histidinemia [MIM:235800]	SWISS	235	pfam00221	4504333,NP_002099
3034	1170423	Disease	p.Arg208Leu	VAR_022916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022916	- Histidinemia [MIM:235800]	SWISS	110	COG2986	4504333,NP_002099
3034	1170423	Disease	p.Pro259Leu	VAR_022917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022917	- Histidinemia [MIM:235800]	SWISS	221	cd00332	4504333,NP_002099
3034	1170423	Disease	p.Pro259Leu	VAR_022917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022917	- Histidinemia [MIM:235800]	SWISS	67	cd01594	4504333,NP_002099
3034	1170423	Disease	p.Pro259Leu	VAR_022917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022917	- Histidinemia [MIM:235800]	SWISS	292	pfam00221	4504333,NP_002099
3034	1170423	Disease	p.Pro259Leu	VAR_022917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022917	- Histidinemia [MIM:235800]	SWISS	161	COG2986	4504333,NP_002099
3034	1170423	Disease	p.Arg322Pro	VAR_022918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022918	- Histidinemia [MIM:235800]	SWISS	333	cd00332	4504333,NP_002099
3034	1170423	Disease	p.Arg322Pro	VAR_022918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022918	- Histidinemia [MIM:235800]	SWISS	177	cd01594	4504333,NP_002099
3034	1170423	Disease	p.Arg322Pro	VAR_022918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022918	- Histidinemia [MIM:235800]	SWISS	415	pfam00221	4504333,NP_002099
3034	1170423	Disease	p.Arg322Pro	VAR_022918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022918	- Histidinemia [MIM:235800]	SWISS	224	COG2986	4504333,NP_002099
57817	10720397	Disease	p.Arg59Gly	VAR_042512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042512	- Hemochromatosis type 2B (HFE2B) [MIM:613313]	SWISS	74	pfam06446	10863973,NP_066998
57817	10720397	Disease	p.Cys70Arg	VAR_042513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042513	- Hemochromatosis type 2B (HFE2B) [MIM:613313]	SWISS	86	pfam06446	10863973,NP_066998
57817	10720397	Disease	p.Gly71Asp	VAR_026648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026648	- Hemochromatosis type 2B (HFE2B) [MIM:613313]	SWISS	87	pfam06446	10863973,NP_066998
57817	10720397	Disease	p.Cys78Tyr	VAR_042514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042514	- Hemochromatosis type 2B (HFE2B) [MIM:613313]	SWISS	98	pfam06446	10863973,NP_066998
10456	20141308	Disease	p.Phe141Leu	VAR_062259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062259	- Autosomal recessive severe congenital neutropenia type 3 (SCN3) [MIM:610738]	SWISS	No Domain	N/A	13435356,NP_006109
3052	1705694	Disease	p.Arg217Cys	VAR_030823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030823	- Microphthalmia syndromic type 7 (MCOPS7) [MIM:309801]	SWISS	603	pfam01265	169790849,NP_005324|169790851,NP_001116080|285002259,NP_001165462
10021	38605641	Disease	p.Ser672Arg	VAR_026535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026535	- Sick sinus syndrome type 2 (SSS2) [MIM:163800]	SWISS	108	pfam00027	4885407,NP_005468
10021	38605641	Disease	p.Ser672Arg	VAR_026535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026535	- Sick sinus syndrome type 2 (SSS2) [MIM:163800]	SWISS	172	smart00100	4885407,NP_005468
10021	38605641	Disease	p.Ser672Arg	VAR_026535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026535	- Sick sinus syndrome type 2 (SSS2) [MIM:163800]	SWISS	135	cd00038	4885407,NP_005468
10021	38605641	Disease	p.Ser672Arg	VAR_026535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026535	- Sick sinus syndrome type 2 (SSS2) [MIM:163800]	SWISS	248	COG0664	4885407,NP_005468
3060	6225800	Disease	p.Leu16Arg	VAR_011633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011633	- Narcolepsy [MIM:161400]	SWISS	16	pfam02072	4557635,NP_001515
8820	12230168	Disease	p.Gln6His	VAR_063230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063230	- Pituitary hormone deficiency combined type 5 (CPHD5) [MIM:182230]	SWISS	No Domain	N/A	4504367,NP_003856
8820	12230168	Disease	p.Ile26Thr	VAR_063231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063231	- Pituitary hormone deficiency combined type 5 (CPHD5) [MIM:182230]	SWISS	No Domain	N/A	4504367,NP_003856
8820	12230168	Disease	p.Glu149Lys	VAR_063232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063232	- Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230]	SWISS	51	pfam00046	4504367,NP_003856
8820	12230168	Disease	p.Glu149Lys	VAR_063232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063232	- Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230]	SWISS	81	smart00389	4504367,NP_003856
8820	12230168	Disease	p.Glu149Lys	VAR_063232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063232	- Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230]	SWISS	73	cd00086	4504367,NP_003856
8820	12230168	Disease	p.Glu149Lys	VAR_063232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063232	- Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230]	SWISS	94	COG5576	4504367,NP_003856
8820	12230168	Disease	p.Arg160Cys	VAR_010225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010225	rs28936702 Septooptic dysplasia (SOD) [MIM:182230]	SWISS	62	pfam00046	4504367,NP_003856
8820	12230168	Disease	p.Arg160Cys	VAR_010225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010225	rs28936702 Septooptic dysplasia (SOD) [MIM:182230]	SWISS	92	smart00389	4504367,NP_003856
8820	12230168	Disease	p.Arg160Cys	VAR_010225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010225	rs28936702 Septooptic dysplasia (SOD) [MIM:182230]	SWISS	84	cd00086	4504367,NP_003856
8820	12230168	Disease	p.Arg160Cys	VAR_010225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010225	rs28936702 Septooptic dysplasia (SOD) [MIM:182230]	SWISS	105	COG5576	4504367,NP_003856
8820	12230168	Disease	p.Ser170Leu	VAR_063233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063233	- Septooptic dysplasia (SOD) [MIM:182230]	SWISS	117	COG5576	4504367,NP_003856
8820	12230168	Disease	p.Thr181Ala	VAR_063234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063234	- Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230]	SWISS	149	COG5576	4504367,NP_003856
3073	311033393	Disease	p.Pro25Ser	VAR_003202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003202	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	No Domain	N/A	189181666,NP_000511
3073	311033393	Disease	p.Leu39Arg	VAR_003203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003203	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	5	pfam02838	189181666,NP_000511
3073	311033393	Disease	p.Leu127Phe	VAR_022439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022439	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	104	pfam02838	189181666,NP_000511
3073	311033393	Disease	p.Leu127Arg	VAR_003204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003204	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	104	pfam02838	189181666,NP_000511
3073	311033393	Disease	p.Arg166Gly	VAR_003205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003205	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	4	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Arg170Gln	VAR_003206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003206	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	8	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Arg170Gln	VAR_003206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003206	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	2	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Arg170Gln	VAR_003206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003206	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	2	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Arg170Gln	VAR_003206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003206	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	3	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Arg170Gln	VAR_003206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003206	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	4	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Arg170Gln	VAR_003206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003206	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	4	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Arg170Gln	VAR_003206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003206	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	4	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Arg170Gln	VAR_003206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003206	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	4	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Arg170Gln	VAR_003206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003206	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	4	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Arg170Trp	VAR_003207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003207	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	8	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Arg170Trp	VAR_003207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003207	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	2	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Arg170Trp	VAR_003207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003207	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	2	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Arg170Trp	VAR_003207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003207	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	3	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Arg170Trp	VAR_003207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003207	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	4	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Arg170Trp	VAR_003207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003207	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	4	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Arg170Trp	VAR_003207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003207	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	4	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Arg170Trp	VAR_003207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003207	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	4	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Arg170Trp	VAR_003207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003207	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	4	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Arg178Cys	VAR_003208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003208	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	16	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Arg178Cys	VAR_003208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003208	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	10	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Arg178Cys	VAR_003208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003208	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	10	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Arg178Cys	VAR_003208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003208	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	11	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Arg178Cys	VAR_003208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003208	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	12	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Arg178Cys	VAR_003208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003208	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	12	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Arg178Cys	VAR_003208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003208	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	12	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Arg178Cys	VAR_003208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003208	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	12	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Arg178Cys	VAR_003208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003208	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	12	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Arg178His	VAR_003209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003209	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	16	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Arg178His	VAR_003209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003209	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	10	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Arg178His	VAR_003209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003209	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	10	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Arg178His	VAR_003209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003209	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	11	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Arg178His	VAR_003209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003209	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	12	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Arg178His	VAR_003209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003209	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	12	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Arg178His	VAR_003209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003209	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	12	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Arg178His	VAR_003209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003209	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	12	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Arg178His	VAR_003209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003209	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	12	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Arg178Leu	VAR_003210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003210	rs28941770 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	16	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Arg178Leu	VAR_003210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003210	rs28941770 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	10	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Arg178Leu	VAR_003210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003210	rs28941770 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	10	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Arg178Leu	VAR_003210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003210	rs28941770 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	11	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Arg178Leu	VAR_003210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003210	rs28941770 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	12	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Arg178Leu	VAR_003210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003210	rs28941770 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	12	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Arg178Leu	VAR_003210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003210	rs28941770 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	12	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Arg178Leu	VAR_003210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003210	rs28941770 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	12	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Arg178Leu	VAR_003210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003210	rs28941770 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	12	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Tyr180His	VAR_003211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003211	rs28941771 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	18	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Tyr180His	VAR_003211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003211	rs28941771 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	13	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Tyr180His	VAR_003211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003211	rs28941771 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	13	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Tyr180His	VAR_003211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003211	rs28941771 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	13	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Tyr180His	VAR_003211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003211	rs28941771 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	15	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Tyr180His	VAR_003211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003211	rs28941771 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	14	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Tyr180His	VAR_003211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003211	rs28941771 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	14	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Tyr180His	VAR_003211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003211	rs28941771 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	14	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Tyr180His	VAR_003211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003211	rs28941771 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	14	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Val192Leu	VAR_003212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003212	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	30	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Val192Leu	VAR_003212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003212	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	25	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Val192Leu	VAR_003212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003212	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	25	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Val192Leu	VAR_003212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003212	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	25	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Val192Leu	VAR_003212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003212	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	27	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Val192Leu	VAR_003212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003212	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	26	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Val192Leu	VAR_003212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003212	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	26	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Val192Leu	VAR_003212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003212	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	26	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Val192Leu	VAR_003212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003212	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	26	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Asn196Ser	VAR_003213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003213	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	34	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Asn196Ser	VAR_003213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003213	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	29	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Asn196Ser	VAR_003213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003213	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	29	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Asn196Ser	VAR_003213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003213	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	29	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Asn196Ser	VAR_003213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003213	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	31	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Asn196Ser	VAR_003213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003213	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	30	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Asn196Ser	VAR_003213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003213	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	30	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Asn196Ser	VAR_003213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003213	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	30	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Asn196Ser	VAR_003213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003213	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	30	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Lys197Thr	VAR_003214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003214	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	35	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Lys197Thr	VAR_003214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003214	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	30	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Lys197Thr	VAR_003214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003214	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	30	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Lys197Thr	VAR_003214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003214	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	30	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Lys197Thr	VAR_003214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003214	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	32	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Lys197Thr	VAR_003214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003214	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	31	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Lys197Thr	VAR_003214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003214	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	31	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Lys197Thr	VAR_003214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003214	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	31	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Lys197Thr	VAR_003214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003214	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	31	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Val200Met	VAR_003215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003215	rs1800429 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	38	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Val200Met	VAR_003215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003215	rs1800429 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	33	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Val200Met	VAR_003215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003215	rs1800429 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	33	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Val200Met	VAR_003215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003215	rs1800429 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	33	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Val200Met	VAR_003215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003215	rs1800429 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	35	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Val200Met	VAR_003215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003215	rs1800429 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	34	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Val200Met	VAR_003215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003215	rs1800429 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	34	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Val200Met	VAR_003215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003215	rs1800429 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	34	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Val200Met	VAR_003215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003215	rs1800429 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	34	cd06562	189181666,NP_000511
3073	311033393	Disease	p.His204Arg	VAR_003216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003216	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	42	cd06569	189181666,NP_000511
3073	311033393	Disease	p.His204Arg	VAR_003216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003216	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	37	cd06565	189181666,NP_000511
3073	311033393	Disease	p.His204Arg	VAR_003216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003216	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	37	cd02742	189181666,NP_000511
3073	311033393	Disease	p.His204Arg	VAR_003216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003216	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	37	cd06564	189181666,NP_000511
3073	311033393	Disease	p.His204Arg	VAR_003216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003216	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	39	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.His204Arg	VAR_003216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003216	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	38	cd06570	189181666,NP_000511
3073	311033393	Disease	p.His204Arg	VAR_003216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003216	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	38	cd06568	189181666,NP_000511
3073	311033393	Disease	p.His204Arg	VAR_003216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003216	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	38	cd06563	189181666,NP_000511
3073	311033393	Disease	p.His204Arg	VAR_003216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003216	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	38	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Ser210Phe	VAR_003217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003217	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	55	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Ser210Phe	VAR_003217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003217	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	40_G	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Ser210Phe	VAR_003217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003217	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	43	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Ser210Phe	VAR_003217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003217	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	45	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Ser210Phe	VAR_003217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003217	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	52	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Ser210Phe	VAR_003217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003217	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	44	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Ser210Phe	VAR_003217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003217	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	44	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Ser210Phe	VAR_003217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003217	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	44	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Ser210Phe	VAR_003217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003217	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	44	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Phe211Ser	VAR_003218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003218	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	56	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Phe211Ser	VAR_003218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003218	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	40_G	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Phe211Ser	VAR_003218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003218	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	44	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Phe211Ser	VAR_003218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003218	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	46	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Phe211Ser	VAR_003218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003218	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	53	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Phe211Ser	VAR_003218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003218	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	45	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Phe211Ser	VAR_003218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003218	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	45	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Phe211Ser	VAR_003218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003218	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	45	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Phe211Ser	VAR_003218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003218	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	45	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Ser226Phe	VAR_022440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022440	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	84	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Ser226Phe	VAR_022440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022440	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	53	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Ser226Phe	VAR_022440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022440	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	78	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Ser226Phe	VAR_022440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022440	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	61	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Ser226Phe	VAR_022440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022440	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	73	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Ser226Phe	VAR_022440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022440	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	60	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Ser226Phe	VAR_022440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022440	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	60	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Ser226Phe	VAR_022440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022440	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	60	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Ser226Phe	VAR_022440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022440	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	60	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Gly250Asp	VAR_003221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003221	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	144	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Gly250Asp	VAR_003221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003221	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	76	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Gly250Asp	VAR_003221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003221	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	102	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Gly250Asp	VAR_003221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003221	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	189	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Gly250Asp	VAR_003221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003221	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	153	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Gly250Asp	VAR_003221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003221	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	81	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Gly250Asp	VAR_003221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003221	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	107	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Gly250Asp	VAR_003221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003221	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	119	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Gly250Asp	VAR_003221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003221	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	84	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Gly250Ser	VAR_003222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003222	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	144	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Gly250Ser	VAR_003222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003222	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	76	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Gly250Ser	VAR_003222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003222	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	102	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Gly250Ser	VAR_003222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003222	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	189	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Gly250Ser	VAR_003222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003222	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	153	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Gly250Ser	VAR_003222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003222	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	81	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Gly250Ser	VAR_003222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003222	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	107	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Gly250Ser	VAR_003222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003222	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	119	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Gly250Ser	VAR_003222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003222	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	84	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Arg252His	VAR_003223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003223	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	146	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Arg252His	VAR_003223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003223	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	78	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Arg252His	VAR_003223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003223	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	104	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Arg252His	VAR_003223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003223	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	191	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Arg252His	VAR_003223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003223	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	155	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Arg252His	VAR_003223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003223	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	83	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Arg252His	VAR_003223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003223	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	109	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Arg252His	VAR_003223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003223	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	121	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Arg252His	VAR_003223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003223	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	86	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Arg252Leu	VAR_017188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017188	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	146	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Arg252Leu	VAR_017188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017188	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	78	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Arg252Leu	VAR_017188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017188	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	104	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Arg252Leu	VAR_017188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017188	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	191	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Arg252Leu	VAR_017188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017188	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	155	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Arg252Leu	VAR_017188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017188	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	83	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Arg252Leu	VAR_017188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017188	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	109	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Arg252Leu	VAR_017188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017188	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	121	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Arg252Leu	VAR_017188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017188	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	86	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Asp258His	VAR_003224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003224	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	152	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Asp258His	VAR_003224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003224	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	84	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Asp258His	VAR_003224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003224	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	110	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Asp258His	VAR_003224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003224	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	197	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Asp258His	VAR_003224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003224	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	161	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Asp258His	VAR_003224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003224	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	89	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Asp258His	VAR_003224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003224	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	115	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Asp258His	VAR_003224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003224	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	127	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Asp258His	VAR_003224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003224	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	92	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Gly269Asp	VAR_022441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022441	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	180	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Gly269Asp	VAR_022441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022441	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	99	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Gly269Asp	VAR_022441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022441	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	121	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Gly269Asp	VAR_022441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022441	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	208	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Gly269Asp	VAR_022441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022441	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	172	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Gly269Asp	VAR_022441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022441	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	100	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Gly269Asp	VAR_022441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022441	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	126	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Gly269Asp	VAR_022441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022441	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	138	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Gly269Asp	VAR_022441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022441	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	103	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Gly269Ser	VAR_003225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003225	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	180	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Gly269Ser	VAR_003225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003225	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	99	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Gly269Ser	VAR_003225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003225	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	121	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Gly269Ser	VAR_003225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003225	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	208	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Gly269Ser	VAR_003225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003225	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	172	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Gly269Ser	VAR_003225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003225	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	100	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Gly269Ser	VAR_003225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003225	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	126	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Gly269Ser	VAR_003225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003225	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	138	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Gly269Ser	VAR_003225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003225	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	103	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Ser279Pro	VAR_003226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003226	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	190	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Ser279Pro	VAR_003226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003226	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	117	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Ser279Pro	VAR_003226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003226	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	131	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Ser279Pro	VAR_003226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003226	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	218	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Ser279Pro	VAR_003226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003226	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	186	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Ser279Pro	VAR_003226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003226	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	111	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Ser279Pro	VAR_003226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003226	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	150	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Ser279Pro	VAR_003226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003226	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	148	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Ser279Pro	VAR_003226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003226	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	113	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Asn295Ser	VAR_017189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017189	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	211	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Asn295Ser	VAR_017189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017189	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	130	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Asn295Ser	VAR_017189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017189	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	169	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Asn295Ser	VAR_017189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017189	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	247	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Asn295Ser	VAR_017189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017189	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	220	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Asn295Ser	VAR_017189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017189	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	131	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Asn295Ser	VAR_017189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017189	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	164	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Asn295Ser	VAR_017189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017189	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	186	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Asn295Ser	VAR_017189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017189	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	140	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Met301Arg	VAR_003227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003227	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	217	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Met301Arg	VAR_003227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003227	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	136	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Met301Arg	VAR_003227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003227	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	175	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Met301Arg	VAR_003227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003227	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	253	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Met301Arg	VAR_003227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003227	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	226	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Met301Arg	VAR_003227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003227	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	137	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Met301Arg	VAR_003227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003227	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	170	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Met301Arg	VAR_003227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003227	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	192	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Met301Arg	VAR_003227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003227	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	146	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Asp314Val	VAR_022442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022442	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	230	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Asp314Val	VAR_022442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022442	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	149	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Asp314Val	VAR_022442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022442	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	193	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Asp314Val	VAR_022442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022442	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	266	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Asp314Val	VAR_022442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022442	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	245	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Asp314Val	VAR_022442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022442	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	150	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Asp314Val	VAR_022442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022442	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	183	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Asp314Val	VAR_022442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022442	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	210	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Asp314Val	VAR_022442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022442	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	177	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Ile335Phe	VAR_003230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003230	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	257	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Ile335Phe	VAR_003230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003230	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	187	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Ile335Phe	VAR_003230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003230	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	214	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Ile335Phe	VAR_003230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003230	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	300	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Ile335Phe	VAR_003230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003230	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	295	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Ile335Phe	VAR_003230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003230	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	171	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Ile335Phe	VAR_003230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003230	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	197_G	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Ile335Phe	VAR_003230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003230	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	231	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Ile335Phe	VAR_003230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003230	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	201	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Val391Met	VAR_003232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003232	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	361	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Val391Met	VAR_003232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003232	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	270	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Val391Met	VAR_003232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003232	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	317	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Val391Met	VAR_003232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003232	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	366	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Val391Met	VAR_003232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003232	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	401	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Val391Met	VAR_003232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003232	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	224	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Val391Met	VAR_003232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003232	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	240	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Val391Met	VAR_003232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003232	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	331	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Val391Met	VAR_003232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003232	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	285	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Trp420Cys	VAR_003234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003234	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	407	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Trp420Cys	VAR_003234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003234	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	318	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Trp420Cys	VAR_003234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003234	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	356	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Trp420Cys	VAR_003234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003234	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	412	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Trp420Cys	VAR_003234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003234	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	454	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Trp420Cys	VAR_003234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003234	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	254	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Trp420Cys	VAR_003234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003234	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	302	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Trp420Cys	VAR_003234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003234	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	362	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Trp420Cys	VAR_003234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003234	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	316	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Gly454Ser	VAR_003236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003236	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	485	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Gly454Ser	VAR_003236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003236	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	354	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Gly454Ser	VAR_003236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003236	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	529	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Gly454Ser	VAR_003236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003236	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	466	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Gly454Ser	VAR_003236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003236	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	550	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Gly454Ser	VAR_003236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003236	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	414	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Gly454Ser	VAR_003236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003236	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	362	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Gly454Ser	VAR_003236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003236	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	538	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Gly454Ser	VAR_003236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003236	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	386	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Gly455Arg	VAR_003237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003237	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	486	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Gly455Arg	VAR_003237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003237	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	355	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Gly455Arg	VAR_003237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003237	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	530	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Gly455Arg	VAR_003237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003237	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	467	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Gly455Arg	VAR_003237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003237	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	551	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Gly455Arg	VAR_003237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003237	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	415	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Gly455Arg	VAR_003237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003237	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	363	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Gly455Arg	VAR_003237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003237	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	539	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Gly455Arg	VAR_003237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003237	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	387	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Cys458Tyr	VAR_003238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003238	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	489	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Cys458Tyr	VAR_003238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003238	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	371	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Cys458Tyr	VAR_003238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003238	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	533	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Cys458Tyr	VAR_003238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003238	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	470	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Cys458Tyr	VAR_003238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003238	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	554	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Cys458Tyr	VAR_003238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003238	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	418	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Cys458Tyr	VAR_003238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003238	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	366	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Cys458Tyr	VAR_003238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003238	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	542	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Cys458Tyr	VAR_003238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003238	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	390	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Trp474Cys	VAR_003239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003239	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	506	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Trp474Cys	VAR_003239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003239	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	387	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Trp474Cys	VAR_003239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003239	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	553	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Trp474Cys	VAR_003239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003239	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	494	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Trp474Cys	VAR_003239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003239	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	577	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Trp474Cys	VAR_003239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003239	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	434	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Trp474Cys	VAR_003239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003239	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	383	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Trp474Cys	VAR_003239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003239	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	560	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Trp474Cys	VAR_003239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003239	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	406	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Glu482Lys	VAR_003240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003240	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	514	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Glu482Lys	VAR_003240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003240	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	395	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Glu482Lys	VAR_003240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003240	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	561	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Glu482Lys	VAR_003240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003240	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	502	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Glu482Lys	VAR_003240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003240	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	585	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Glu482Lys	VAR_003240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003240	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	442	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Glu482Lys	VAR_003240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003240	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	391	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Glu482Lys	VAR_003240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003240	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	568	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Glu482Lys	VAR_003240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003240	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	414	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Leu484Gln	VAR_003241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003241	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	516	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Leu484Gln	VAR_003241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003241	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	397	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Leu484Gln	VAR_003241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003241	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	563	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Leu484Gln	VAR_003241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003241	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	504	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Leu484Gln	VAR_003241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003241	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	587	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Leu484Gln	VAR_003241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003241	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	444	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Leu484Gln	VAR_003241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003241	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	393	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Leu484Gln	VAR_003241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003241	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	570	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Leu484Gln	VAR_003241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003241	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	416	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Trp485Arg	VAR_003242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003242	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	517	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Trp485Arg	VAR_003242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003242	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	398	cd06565	189181666,NP_000511
3073	311033393	Disease	p.Trp485Arg	VAR_003242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003242	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	564	cd02742	189181666,NP_000511
3073	311033393	Disease	p.Trp485Arg	VAR_003242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003242	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	505	cd06564	189181666,NP_000511
3073	311033393	Disease	p.Trp485Arg	VAR_003242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003242	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	588	pfam00728	189181666,NP_000511
3073	311033393	Disease	p.Trp485Arg	VAR_003242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003242	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	445	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Trp485Arg	VAR_003242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003242	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	394	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Trp485Arg	VAR_003242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003242	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	571	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Trp485Arg	VAR_003242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003242	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	417	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Arg499Cys	VAR_003243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003243	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	576	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Arg499Cys	VAR_003243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003243	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	459	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Arg499Cys	VAR_003243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003243	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	413	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Arg499Cys	VAR_003243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003243	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	609	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Arg499Cys	VAR_003243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003243	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	445	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Arg499His	VAR_003244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003244	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	576	cd06569	189181666,NP_000511
3073	311033393	Disease	p.Arg499His	VAR_003244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003244	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	459	cd06570	189181666,NP_000511
3073	311033393	Disease	p.Arg499His	VAR_003244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003244	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	413	cd06568	189181666,NP_000511
3073	311033393	Disease	p.Arg499His	VAR_003244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003244	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	609	cd06563	189181666,NP_000511
3073	311033393	Disease	p.Arg499His	VAR_003244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003244	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	445	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Arg504Cys	VAR_003245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003245	rs28942071 GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	450	cd06562	189181666,NP_000511
3073	311033393	Disease	p.Arg504His	VAR_003246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003246	- GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]	SWISS	450	cd06562	189181666,NP_000511
3074	123081	Disease	p.Ser62Leu	VAR_003247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003247	rs820878 GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	No Domain	N/A	4504373,NP_000512
3074	123081	Disease	p.Ser255Arg	VAR_011704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011704	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	69	pfam00728	4504373,NP_000512
3074	123081	Disease	p.Ser255Arg	VAR_011704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011704	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	56	cd06563	4504373,NP_000512
3074	123081	Disease	p.Ser255Arg	VAR_011704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011704	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	56	cd06570	4504373,NP_000512
3074	123081	Disease	p.Ser255Arg	VAR_011704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011704	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	85	cd06568	4504373,NP_000512
3074	123081	Disease	p.Ser255Arg	VAR_011704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011704	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	56	cd06562	4504373,NP_000512
3074	123081	Disease	p.Ser255Arg	VAR_011704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011704	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	57	cd06564	4504373,NP_000512
3074	123081	Disease	p.Ser255Arg	VAR_011704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011704	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	122	cd06569	4504373,NP_000512
3074	123081	Disease	p.Ser255Arg	VAR_011704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011704	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	53	cd06565	4504373,NP_000512
3074	123081	Disease	p.Ser255Arg	VAR_011704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011704	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	55	cd02742	4504373,NP_000512
3074	123081	Disease	p.Cys309Tyr	VAR_003250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003250	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	184	pfam00728	4504373,NP_000512
3074	123081	Disease	p.Cys309Tyr	VAR_003250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003250	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	146	cd06563	4504373,NP_000512
3074	123081	Disease	p.Cys309Tyr	VAR_003250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003250	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	111	cd06570	4504373,NP_000512
3074	123081	Disease	p.Cys309Tyr	VAR_003250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003250	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	132	cd06568	4504373,NP_000512
3074	123081	Disease	p.Cys309Tyr	VAR_003250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003250	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	111	cd06562	4504373,NP_000512
3074	123081	Disease	p.Cys309Tyr	VAR_003250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003250	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	216	cd06564	4504373,NP_000512
3074	123081	Disease	p.Cys309Tyr	VAR_003250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003250	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	194	cd06569	4504373,NP_000512
3074	123081	Disease	p.Cys309Tyr	VAR_003250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003250	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	108	cd06565	4504373,NP_000512
3074	123081	Disease	p.Cys309Tyr	VAR_003250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003250	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	129	cd02742	4504373,NP_000512
3074	123081	Disease	p.Pro417Leu	VAR_003251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003251	rs28942073 GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	394	pfam00728	4504373,NP_000512
3074	123081	Disease	p.Pro417Leu	VAR_003251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003251	rs28942073 GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	325	cd06563	4504373,NP_000512
3074	123081	Disease	p.Pro417Leu	VAR_003251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003251	rs28942073 GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	218	cd06570	4504373,NP_000512
3074	123081	Disease	p.Pro417Leu	VAR_003251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003251	rs28942073 GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	234	cd06568	4504373,NP_000512
3074	123081	Disease	p.Pro417Leu	VAR_003251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003251	rs28942073 GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	279	cd06562	4504373,NP_000512
3074	123081	Disease	p.Pro417Leu	VAR_003251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003251	rs28942073 GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	360	cd06564	4504373,NP_000512
3074	123081	Disease	p.Pro417Leu	VAR_003251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003251	rs28942073 GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	355	cd06569	4504373,NP_000512
3074	123081	Disease	p.Pro417Leu	VAR_003251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003251	rs28942073 GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	272	cd06565	4504373,NP_000512
3074	123081	Disease	p.Pro417Leu	VAR_003251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003251	rs28942073 GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	311	cd02742	4504373,NP_000512
3074	123081	Disease	p.Tyr456Ser	VAR_003252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003252	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	461	pfam00728	4504373,NP_000512
3074	123081	Disease	p.Tyr456Ser	VAR_003252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003252	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	368	cd06563	4504373,NP_000512
3074	123081	Disease	p.Tyr456Ser	VAR_003252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003252	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	260_G	cd06570	4504373,NP_000512
3074	123081	Disease	p.Tyr456Ser	VAR_003252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003252	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	316	cd06568	4504373,NP_000512
3074	123081	Disease	p.Tyr456Ser	VAR_003252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003252	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	323	cd06562	4504373,NP_000512
3074	123081	Disease	p.Tyr456Ser	VAR_003252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003252	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	423	cd06564	4504373,NP_000512
3074	123081	Disease	p.Tyr456Ser	VAR_003252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003252	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	415	cd06569	4504373,NP_000512
3074	123081	Disease	p.Tyr456Ser	VAR_003252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003252	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	330	cd06565	4504373,NP_000512
3074	123081	Disease	p.Tyr456Ser	VAR_003252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003252	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	378	cd02742	4504373,NP_000512
3074	123081	Disease	p.Pro504Ser	VAR_011705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011705	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	578	pfam00728	4504373,NP_000512
3074	123081	Disease	p.Pro504Ser	VAR_011705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011705	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	561	cd06563	4504373,NP_000512
3074	123081	Disease	p.Pro504Ser	VAR_011705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011705	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	435	cd06570	4504373,NP_000512
3074	123081	Disease	p.Pro504Ser	VAR_011705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011705	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	384	cd06568	4504373,NP_000512
3074	123081	Disease	p.Pro504Ser	VAR_011705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011705	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	407	cd06562	4504373,NP_000512
3074	123081	Disease	p.Pro504Ser	VAR_011705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011705	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	495	cd06564	4504373,NP_000512
3074	123081	Disease	p.Pro504Ser	VAR_011705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011705	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	507	cd06569	4504373,NP_000512
3074	123081	Disease	p.Pro504Ser	VAR_011705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011705	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	388	cd06565	4504373,NP_000512
3074	123081	Disease	p.Pro504Ser	VAR_011705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011705	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	554	cd02742	4504373,NP_000512
3074	123081	Disease	p.Arg505Gln	VAR_003253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003253	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	579	pfam00728	4504373,NP_000512
3074	123081	Disease	p.Arg505Gln	VAR_003253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003253	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	562	cd06563	4504373,NP_000512
3074	123081	Disease	p.Arg505Gln	VAR_003253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003253	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	436	cd06570	4504373,NP_000512
3074	123081	Disease	p.Arg505Gln	VAR_003253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003253	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	385	cd06568	4504373,NP_000512
3074	123081	Disease	p.Arg505Gln	VAR_003253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003253	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	408	cd06562	4504373,NP_000512
3074	123081	Disease	p.Arg505Gln	VAR_003253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003253	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	496	cd06564	4504373,NP_000512
3074	123081	Disease	p.Arg505Gln	VAR_003253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003253	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	508	cd06569	4504373,NP_000512
3074	123081	Disease	p.Arg505Gln	VAR_003253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003253	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	389	cd06565	4504373,NP_000512
3074	123081	Disease	p.Arg505Gln	VAR_003253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003253	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	555	cd02742	4504373,NP_000512
3074	123081	Disease	p.Cys534Tyr	VAR_003254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003254	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	451	cd06562	4504373,NP_000512
3074	123081	Disease	p.Ala543Thr	VAR_011706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011706	- GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]	SWISS	No Domain	N/A	4504373,NP_000512
3077	2497915	Disease	p.Arg6Ser	VAR_042506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042506	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	No Domain	N/A	4504377,NP_000401
3077	2497915	Disease	p.Gly43Asp	VAR_042507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042507	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	18	pfam00129	4504377,NP_000401
3077	2497915	Disease	p.His63Asp	VAR_004396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004396	rs1799945 Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	38	pfam00129	4504377,NP_000401
3077	2497915	Disease	p.His63Asp	VAR_004396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004396	rs1799945 Variegate porphyria (VP) [MIM:176200]	SWISS	38	pfam00129	4504377,NP_000401
3077	2497915	Disease	p.Ser65Cys	VAR_004397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004397	rs1800730 Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	40	pfam00129	4504377,NP_000401
3077	2497915	Disease	p.Arg66Cys	VAR_042508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042508	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	41	pfam00129	4504377,NP_000401
3077	2497915	Disease	p.Gly93Arg	VAR_008729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008729	rs28934597 Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	70	pfam00129	4504377,NP_000401
3077	2497915	Disease	p.Ile105Thr	VAR_008730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008730	rs28934596 Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	82	pfam00129	4504377,NP_000401
3077	2497915	Disease	p.Gln127His	VAR_008113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008113	rs28934595 Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	105	pfam00129	4504377,NP_000401
3077	2497915	Disease	p.Gln127His	VAR_008113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008113	rs28934595 Variegate porphyria (VP) [MIM:176200]	SWISS	105	pfam00129	4504377,NP_000401
3077	2497915	Disease	p.Ala176Val	VAR_042509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042509	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	155	pfam00129	4504377,NP_000401
3077	2497915	Disease	p.Ala176Val	VAR_042509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042509	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	10	cd05771	4504377,NP_000401
3077	2497915	Disease	p.Arg224Gly	VAR_042510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042510	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	4	cd00096	4504377,NP_000401
3077	2497915	Disease	p.Arg224Gly	VAR_042510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042510	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	31	cd00098	4504377,NP_000401
3077	2497915	Disease	p.Arg224Gly	VAR_042510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042510	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	21	cd05767	4504377,NP_000401
3077	2497915	Disease	p.Arg224Gly	VAR_042510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042510	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	21	cd05770	4504377,NP_000401
3077	2497915	Disease	p.Arg224Gly	VAR_042510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042510	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	23	cd07698	4504377,NP_000401
3077	2497915	Disease	p.Arg224Gly	VAR_042510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042510	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	20	cd05766	4504377,NP_000401
3077	2497915	Disease	p.Arg224Gly	VAR_042510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042510	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	5	smart00407	4504377,NP_000401
3077	2497915	Disease	p.Arg224Gly	VAR_042510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042510	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	60	cd05771	4504377,NP_000401
3077	2497915	Disease	p.Arg224Gly	VAR_042510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042510	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	19	pfam07654	4504377,NP_000401
3077	2497915	Disease	p.Cys282Tyr	VAR_004398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004398	rs1800562 Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	125	cd00096	4504377,NP_000401
3077	2497915	Disease	p.Cys282Tyr	VAR_004398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004398	rs1800562 Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	107	cd00098	4504377,NP_000401
3077	2497915	Disease	p.Cys282Tyr	VAR_004398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004398	rs1800562 Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	78	cd05767	4504377,NP_000401
3077	2497915	Disease	p.Cys282Tyr	VAR_004398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004398	rs1800562 Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	78	cd05770	4504377,NP_000401
3077	2497915	Disease	p.Cys282Tyr	VAR_004398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004398	rs1800562 Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	85	cd07698	4504377,NP_000401
3077	2497915	Disease	p.Cys282Tyr	VAR_004398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004398	rs1800562 Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	79	cd05766	4504377,NP_000401
3077	2497915	Disease	p.Cys282Tyr	VAR_004398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004398	rs1800562 Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	77	smart00407	4504377,NP_000401
3077	2497915	Disease	p.Cys282Tyr	VAR_004398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004398	rs1800562 Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	126	cd05771	4504377,NP_000401
3077	2497915	Disease	p.Cys282Tyr	VAR_004398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004398	rs1800562 Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	90	pfam07654	4504377,NP_000401
3077	2497915	Disease	p.Gln283Pro	VAR_037304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037304	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	126	cd00096	4504377,NP_000401
3077	2497915	Disease	p.Gln283Pro	VAR_037304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037304	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	108	cd00098	4504377,NP_000401
3077	2497915	Disease	p.Gln283Pro	VAR_037304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037304	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	79	cd05767	4504377,NP_000401
3077	2497915	Disease	p.Gln283Pro	VAR_037304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037304	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	79	cd05770	4504377,NP_000401
3077	2497915	Disease	p.Gln283Pro	VAR_037304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037304	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	86	cd07698	4504377,NP_000401
3077	2497915	Disease	p.Gln283Pro	VAR_037304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037304	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	80	cd05766	4504377,NP_000401
3077	2497915	Disease	p.Gln283Pro	VAR_037304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037304	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	78	smart00407	4504377,NP_000401
3077	2497915	Disease	p.Gln283Pro	VAR_037304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037304	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	127	cd05771	4504377,NP_000401
3077	2497915	Disease	p.Gln283Pro	VAR_037304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037304	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	91	pfam07654	4504377,NP_000401
3077	2497915	Disease	p.Val295Ala	VAR_042511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042511	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	162	cd00096	4504377,NP_000401
3077	2497915	Disease	p.Val295Ala	VAR_042511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042511	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	137	cd00098	4504377,NP_000401
3077	2497915	Disease	p.Val295Ala	VAR_042511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042511	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	91	cd05767	4504377,NP_000401
3077	2497915	Disease	p.Val295Ala	VAR_042511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042511	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	91	cd05770	4504377,NP_000401
3077	2497915	Disease	p.Val295Ala	VAR_042511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042511	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	102	cd07698	4504377,NP_000401
3077	2497915	Disease	p.Val295Ala	VAR_042511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042511	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	92	cd05766	4504377,NP_000401
3077	2497915	Disease	p.Val295Ala	VAR_042511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042511	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	139	cd05771	4504377,NP_000401
3077	2497915	Disease	p.Arg330Met	VAR_008114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008114	- Hereditary hemochromatosis (HH) [MIM:235200]	SWISS	No Domain	N/A	4504377,NP_000401
148738	51316254	Disease	p.Cys80Arg	VAR_019617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019617	rs28940586 Hemochromatosis type 2A (HFE2A) [MIM:602390]	SWISS	76	pfam06535	47458048,NP_998818
148738	51316254	Disease	p.Ser85Pro	VAR_019618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019618	- Hemochromatosis type 2A (HFE2A) [MIM:602390]	SWISS	81	pfam06535	47458048,NP_998818
148738	51316254	Disease	p.Gly99Arg	VAR_019619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019619	- Hemochromatosis type 2A (HFE2A) [MIM:602390]	SWISS	95	pfam06535	47458048,NP_998818
148738	51316254	Disease	p.Leu101Pro	VAR_019620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019620	- Hemochromatosis type 2A (HFE2A) [MIM:602390]	SWISS	97	pfam06535	47458048,NP_998818
148738	51316254	Disease	p.Ala168Asp	VAR_019621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019621	- Hemochromatosis type 2A (HFE2A) [MIM:602390]	SWISS	180	pfam06535	47458048,NP_998818
148738	51316254	Disease	p.Phe170Ser	VAR_019622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019622	- Hemochromatosis type 2A (HFE2A) [MIM:602390]	SWISS	182	pfam06535	47458048,NP_998818
148738	51316254	Disease	p.Asp172Glu	VAR_019623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019623	- Hemochromatosis type 2A (HFE2A) [MIM:602390]	SWISS	184	pfam06535	47458048,NP_998818
148738	51316254	Disease	p.Trp191Cys	VAR_019624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019624	- Hemochromatosis type 2A (HFE2A) [MIM:602390]	SWISS	203	pfam06535	47458048,NP_998818
148738	51316254	Disease	p.Ser205Arg	VAR_019625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019625	- Hemochromatosis type 2A (HFE2A) [MIM:602390]	SWISS	217	pfam06535	47458048,NP_998818
148738	51316254	Disease	p.Ile222Asn	VAR_019626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019626	- Hemochromatosis type 2A (HFE2A) [MIM:602390]	SWISS	234	pfam06535	47458048,NP_998818
148738	51316254	Disease	p.Gly250Val	VAR_019627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019627	- Hemochromatosis type 2A (HFE2A) [MIM:602390]	SWISS	23	pfam06534	47458048,NP_998818
148738	51316254	Disease	p.Arg288Trp	VAR_019628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019628	- Hemochromatosis type 2A (HFE2A) [MIM:602390]	SWISS	64	pfam06534	47458048,NP_998818
148738	51316254	Disease	p.Gly320Val	VAR_019629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019629	- Hemochromatosis type 2A (HFE2A) [MIM:602390]	SWISS	98	pfam06534	47458048,NP_998818
148738	51316254	Disease	p.Cys321Trp	VAR_019927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019927	- Hemochromatosis type 2A (HFE2A) [MIM:602390]	SWISS	99	pfam06534	47458048,NP_998818
3081	296434531	Disease	p.Leu25Pro	VAR_009618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009618	- Alkaptonuria (AKU) [MIM:203500]	SWISS	40	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Leu25Pro	VAR_009618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009618	- Alkaptonuria (AKU) [MIM:203500]	SWISS	23	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Glu42Ala	VAR_005272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005272	- Alkaptonuria (AKU) [MIM:203500]	SWISS	57	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Glu42Ala	VAR_005272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005272	- Alkaptonuria (AKU) [MIM:203500]	SWISS	40	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Trp60Gly	VAR_005273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005273	- Alkaptonuria (AKU) [MIM:203500]	SWISS	75	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Trp60Gly	VAR_005273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005273	- Alkaptonuria (AKU) [MIM:203500]	SWISS	59	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Tyr62Cys	VAR_005274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005274	- Alkaptonuria (AKU) [MIM:203500]	SWISS	77	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Tyr62Cys	VAR_005274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005274	- Alkaptonuria (AKU) [MIM:203500]	SWISS	61	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Trp97Gly	VAR_005275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005275	- Alkaptonuria (AKU) [MIM:203500]	SWISS	115	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Trp97Gly	VAR_005275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005275	- Alkaptonuria (AKU) [MIM:203500]	SWISS	102	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Ala122Asp	VAR_005276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005276	- Alkaptonuria (AKU) [MIM:203500]	SWISS	137	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Ala122Asp	VAR_005276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005276	- Alkaptonuria (AKU) [MIM:203500]	SWISS	127	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Asp153Gly	VAR_005277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005277	- Alkaptonuria (AKU) [MIM:203500]	SWISS	168	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Asp153Gly	VAR_005277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005277	- Alkaptonuria (AKU) [MIM:203500]	SWISS	161	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Gly161Arg	VAR_005278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005278	rs28941783 Alkaptonuria (AKU) [MIM:203500]	SWISS	176	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Gly161Arg	VAR_005278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005278	rs28941783 Alkaptonuria (AKU) [MIM:203500]	SWISS	169	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Glu168Lys	VAR_009619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009619	- Alkaptonuria (AKU) [MIM:203500]	SWISS	183	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Glu168Lys	VAR_009619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009619	- Alkaptonuria (AKU) [MIM:203500]	SWISS	176	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Ser189Ile	VAR_005279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005279	- Alkaptonuria (AKU) [MIM:203500]	SWISS	204	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Ser189Ile	VAR_005279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005279	- Alkaptonuria (AKU) [MIM:203500]	SWISS	197	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Ile216Thr	VAR_005280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005280	- Alkaptonuria (AKU) [MIM:203500]	SWISS	234	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Ile216Thr	VAR_005280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005280	- Alkaptonuria (AKU) [MIM:203500]	SWISS	232	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Arg225His	VAR_005281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005281	- Alkaptonuria (AKU) [MIM:203500]	SWISS	243	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Arg225His	VAR_005281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005281	- Alkaptonuria (AKU) [MIM:203500]	SWISS	241	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Phe227Ser	VAR_005282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005282	- Alkaptonuria (AKU) [MIM:203500]	SWISS	245	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Phe227Ser	VAR_005282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005282	- Alkaptonuria (AKU) [MIM:203500]	SWISS	243	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Pro230Ser	VAR_005283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005283	rs28942100 Alkaptonuria (AKU) [MIM:203500]	SWISS	248	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Pro230Ser	VAR_005283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005283	rs28942100 Alkaptonuria (AKU) [MIM:203500]	SWISS	246	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Pro230Thr	VAR_005284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005284	- Alkaptonuria (AKU) [MIM:203500]	SWISS	248	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Pro230Thr	VAR_005284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005284	- Alkaptonuria (AKU) [MIM:203500]	SWISS	246	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Gly270Arg	VAR_009620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009620	- Alkaptonuria (AKU) [MIM:203500]	SWISS	290	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Gly270Arg	VAR_009620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009620	- Alkaptonuria (AKU) [MIM:203500]	SWISS	293	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Asp291Glu	VAR_005285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005285	- Alkaptonuria (AKU) [MIM:203500]	SWISS	311	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Asp291Glu	VAR_005285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005285	- Alkaptonuria (AKU) [MIM:203500]	SWISS	317	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Val300Gly	VAR_005286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005286	- Alkaptonuria (AKU) [MIM:203500]	SWISS	320	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Val300Gly	VAR_005286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005286	- Alkaptonuria (AKU) [MIM:203500]	SWISS	326	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Arg330Ser	VAR_008744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008744	- Alkaptonuria (AKU) [MIM:203500]	SWISS	350	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Arg330Ser	VAR_008744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008744	- Alkaptonuria (AKU) [MIM:203500]	SWISS	359	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.Met368Val	VAR_005287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005287	- Alkaptonuria (AKU) [MIM:203500]	SWISS	389	COG3508	115527117,NP_000178
3081	296434531	Disease	p.Met368Val	VAR_005287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005287	- Alkaptonuria (AKU) [MIM:203500]	SWISS	416	pfam04209	115527117,NP_000178
3081	296434531	Disease	p.His371Arg	VAR_008745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008745	- Alkaptonuria (AKU) [MIM:203500]	SWISS	392	COG3508	115527117,NP_000178
3081	296434531	Disease	p.His371Arg	VAR_008745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008745	- Alkaptonuria (AKU) [MIM:203500]	SWISS	419	pfam04209	115527117,NP_000178
138050	124007195	Disease	p.Pro311Leu	VAR_030083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030083	- Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]	SWISS	68	COG4299	NULL
138050	124007195	Disease	p.Pro311Leu	VAR_030083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030083	- Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]	SWISS	54	pfam07786	NULL
138050	124007195	Disease	p.Arg372Cys	VAR_030084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030084	- Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]	SWISS	135	COG4299	NULL
138050	124007195	Disease	p.Arg372Cys	VAR_030084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030084	- Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]	SWISS	145	pfam07786	NULL
138050	124007195	Disease	p.Gly452Ser	VAR_030085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030085	- Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]	SWISS	192	COG4299	NULL
138050	124007195	Disease	p.Glu499Lys	VAR_030086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030086	- Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]	SWISS	223	COG4299	NULL
138050	124007195	Disease	p.Met510Lys	VAR_030087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030087	- Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]	SWISS	234	COG4299	NULL
138050	124007195	Disease	p.Ser569Leu	VAR_030088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030088	- Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]	SWISS	288	COG4299	NULL
138050	124007195	Disease	p.Asp590Val	VAR_030089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030089	- Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]	SWISS	309	COG4299	NULL
138050	124007195	Disease	p.Pro599Leu	VAR_030090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030090	- Mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]	SWISS	321	COG4299	NULL
26275	146324905	Disease	p.Tyr122Cys	VAR_031870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031870	- HIBCH deficiency [MIM:250620]	SWISS	192	cd06558	37594471,NP_055177
26275	146324905	Disease	p.Tyr122Cys	VAR_031870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031870	- HIBCH deficiency [MIM:250620]	SWISS	147	COG1024	37594471,NP_055177
26275	146324905	Disease	p.Tyr122Cys	VAR_031870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031870	- HIBCH deficiency [MIM:250620]	SWISS	77	pfam00378	37594471,NP_055177
26275	146324905	Disease	p.Tyr122Cys	VAR_031870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031870	- HIBCH deficiency [MIM:250620]	SWISS	142	COG0447	37594471,NP_055177
3098	116242516	Disease	p.Leu529Ser	VAR_009878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009878	- Hexokinase deficiency (HK deficiency) [MIM:235700]	SWISS	90	COG5026	188497754,NP_000179
3098	116242516	Disease	p.Leu529Ser	VAR_009878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009878	- Hexokinase deficiency (HK deficiency) [MIM:235700]	SWISS	72	pfam00349	188497754,NP_000179
3098	116242516	Disease	p.Thr680Ser	VAR_023780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023780	- Hexokinase deficiency (HK deficiency) [MIM:235700]	SWISS	272	COG5026	188497754,NP_000179
3098	116242516	Disease	p.Thr680Ser	VAR_023780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023780	- Hexokinase deficiency (HK deficiency) [MIM:235700]	SWISS	10	pfam03727	188497754,NP_000179
3141	1705499	Disease	p.Glu42Asp	VAR_035800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035800	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	No Domain	N/A	46255045,NP_000402
3141	1705499	Disease	p.Arg183Pro	VAR_046507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046507	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	No Domain	N/A	46255045,NP_000402
3141	1705499	Disease	p.Leu216Arg	VAR_021218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021218	rs28934602 Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	52	pfam09825	46255045,NP_000402
3141	1705499	Disease	p.Leu237Pro	VAR_005084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005084	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	81	pfam09825	46255045,NP_000402
3141	1705499	Disease	p.Val333Glu	VAR_009196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009196	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	235	pfam09825	46255045,NP_000402
3141	1705499	Disease	p.Arg360Ser	VAR_046508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046508	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	272	pfam09825	46255045,NP_000402
3141	1705499	Disease	p.Val363Asp	VAR_046509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046509	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	275	pfam09825	46255045,NP_000402
3141	1705499	Disease	p.Tyr456Cys	VAR_046510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046510	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	474	pfam09825	46255045,NP_000402
3141	1705499	Disease	p.Thr462Ile	VAR_009197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009197	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	No Domain	N/A	46255045,NP_000402
3141	1705499	Disease	p.Leu470Ser	VAR_046511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046511	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	No Domain	N/A	46255045,NP_000402
3141	1705499	Disease	p.Arg508Trp	VAR_013009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013009	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	50	COG0340	46255045,NP_000402
3141	1705499	Disease	p.Arg508Trp	VAR_013009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013009	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	44	pfam03099	46255045,NP_000402
3141	1705499	Disease	p.Asn511Lys	VAR_021219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021219	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	54	COG0340	46255045,NP_000402
3141	1705499	Disease	p.Asn511Lys	VAR_021219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021219	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	48	pfam03099	46255045,NP_000402
3141	1705499	Disease	p.Gly518Glu	VAR_046512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046512	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	61	COG0340	46255045,NP_000402
3141	1705499	Disease	p.Gly518Glu	VAR_046512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046512	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	55	pfam03099	46255045,NP_000402
3141	1705499	Disease	p.Val547Gly	VAR_046513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046513	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	93	COG0340	46255045,NP_000402
3141	1705499	Disease	p.Val547Gly	VAR_046513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046513	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	87	pfam03099	46255045,NP_000402
3141	1705499	Disease	p.Val550Met	VAR_009198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009198	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	96	COG0340	46255045,NP_000402
3141	1705499	Disease	p.Val550Met	VAR_009198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009198	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	90	pfam03099	46255045,NP_000402
3141	1705499	Disease	p.Asp571Asn	VAR_009199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009199	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	134	COG0340	46255045,NP_000402
3141	1705499	Disease	p.Asp571Asn	VAR_009199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009199	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	132	pfam03099	46255045,NP_000402
3141	1705499	Disease	p.Gly581Ser	VAR_009200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009200	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	173	COG0340	46255045,NP_000402
3141	1705499	Disease	p.Gly581Ser	VAR_009200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009200	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	155	pfam03099	46255045,NP_000402
3141	1705499	Disease	p.Gly582Arg	VAR_021220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021220	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	174	COG0340	46255045,NP_000402
3141	1705499	Disease	p.Gly582Arg	VAR_021220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021220	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	156	pfam03099	46255045,NP_000402
3141	1705499	Disease	p.Asp615Tyr	VAR_046514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046514	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	230	COG0340	46255045,NP_000402
3141	1705499	Disease	p.Asp634Asn	VAR_046515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046515	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	250	COG0340	46255045,NP_000402
3141	1705499	Disease	p.Asp634Tyr	VAR_046516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046516	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	250	COG0340	46255045,NP_000402
3141	1705499	Disease	p.Asp715Gly	VAR_046517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046517	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	344	COG0340	46255045,NP_000402
3141	1705499	Disease	p.Asp715Gly	VAR_046517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046517	- Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]	SWISS	61	pfam02237	46255045,NP_000402
3145	1170217	Disease	p.Met18Ile	VAR_025558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025558	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	No Domain	N/A	20149500,NP_000181
3145	1170217	Disease	p.Arg22Cys	VAR_003638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003638	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	2	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg22Cys	VAR_003638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003638	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	5	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg22Cys	VAR_003638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003638	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	3	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Gly24Ser	VAR_011001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011001	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	4	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Gly24Ser	VAR_011001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011001	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	7	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Gly24Ser	VAR_011001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011001	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	5	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Arg26Cys	VAR_011002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011002	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	6	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg26Cys	VAR_011002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011002	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	9	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg26Cys	VAR_011002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011002	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	7	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Arg26His	VAR_003639	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003639	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	6	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg26His	VAR_003639	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003639	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	9	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg26His	VAR_003639	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003639	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	7	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Ser28Asn	VAR_011003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011003	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	8	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Ser28Asn	VAR_011003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011003	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	11	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Ser28Asn	VAR_011003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011003	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	9	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Ala31Pro	VAR_011004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011004	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	11	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Ala31Pro	VAR_011004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011004	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	14	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Ala31Pro	VAR_011004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011004	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	12	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Ala31Thr	VAR_003640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003640	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	11	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Ala31Thr	VAR_003640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003640	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	14	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Ala31Thr	VAR_003640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003640	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	12	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Gln34Lys	VAR_003641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003641	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	14	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Gln34Lys	VAR_003641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003641	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	17	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Gln34Lys	VAR_003641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003641	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	15	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Gln34Pro	VAR_011005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011005	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	14	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Gln34Pro	VAR_011005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011005	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	17	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Gln34Pro	VAR_011005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011005	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	15	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Gln34Arg	VAR_025559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025559	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	14	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Gln34Arg	VAR_025559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025559	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	17	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Gln34Arg	VAR_025559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025559	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	15	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Thr35Met	VAR_011006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011006	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	15	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Thr35Met	VAR_011006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011006	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	18	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Thr35Met	VAR_011006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011006	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	16	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Leu42Ser	VAR_011007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011007	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	22	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Leu42Ser	VAR_011007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011007	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	25	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Leu42Ser	VAR_011007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011007	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	23	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Ala55Ser	VAR_003642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003642	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	39	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Ala55Ser	VAR_003642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003642	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	48	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Ala55Ser	VAR_003642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003642	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	40	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Asp61Asn	VAR_011008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011008	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	45	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Asp61Asn	VAR_011008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011008	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	54	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Asp61Asn	VAR_011008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011008	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	46	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Asp61Tyr	VAR_025560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025560	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	45	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Asp61Tyr	VAR_025560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025560	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	54	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Asp61Tyr	VAR_025560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025560	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	46	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Thr78Pro	VAR_025561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025561	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	65	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Thr78Pro	VAR_025561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025561	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	74	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Thr78Pro	VAR_025561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025561	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	66	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Glu80Gly	VAR_025562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025562	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	67	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Glu80Gly	VAR_025562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025562	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	76	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Glu80Gly	VAR_025562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025562	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	68	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Leu81Pro	VAR_025563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025563	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	68	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Leu81Pro	VAR_025563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025563	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	77	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Leu81Pro	VAR_025563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025563	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	69	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Leu85Arg	VAR_011009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011009	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	72	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Leu85Arg	VAR_011009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011009	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	81	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Leu85Arg	VAR_011009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011009	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	73	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Glu86Val	VAR_025564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025564	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	73	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Glu86Val	VAR_025564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025564	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	82	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Glu86Val	VAR_025564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025564	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	74	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Val90Gly	VAR_011010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011010	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	82	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Val90Gly	VAR_011010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011010	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	90	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Val90Gly	VAR_011010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011010	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	83	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Leu92Pro	VAR_025565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025565	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	84	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Leu92Pro	VAR_025565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025565	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	92	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Leu92Pro	VAR_025565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025565	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	85	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Val93Phe	VAR_003643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003643	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	85	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Val93Phe	VAR_003643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003643	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	93	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Val93Phe	VAR_003643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003643	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	86	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Ser96Phe	VAR_025567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025567	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	88	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Ser96Phe	VAR_025567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025567	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	96	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Ser96Phe	VAR_025567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025567	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	89	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Lys98Arg	VAR_003644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003644	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	90	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Lys98Arg	VAR_003644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003644	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	98	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Lys98Arg	VAR_003644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003644	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	91	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Asp99Gly	VAR_025568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025568	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	91	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Asp99Gly	VAR_025568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025568	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	99	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Asp99Gly	VAR_025568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025568	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	92	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Asp99His	VAR_025569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025569	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	91	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Asp99His	VAR_025569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025569	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	99	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Asp99His	VAR_025569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025569	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	92	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Asp99Asn	VAR_025570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025570	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	91	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Asp99Asn	VAR_025570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025570	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	99	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Asp99Asn	VAR_025570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025570	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	92	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Gly111Arg	VAR_003645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003645	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	103	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Gly111Arg	VAR_003645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003645	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	112	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Gly111Arg	VAR_003645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003645	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	104	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Ile113Thr	VAR_025571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025571	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	105	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Ile113Thr	VAR_025571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025571	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	114	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Ile113Thr	VAR_025571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025571	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	106	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Arg116Gln	VAR_003646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003646	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	108	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg116Gln	VAR_003646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003646	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	117	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg116Gln	VAR_003646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003646	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	109	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Arg116Trp	VAR_003647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003647	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	108	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg116Trp	VAR_003647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003647	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	117	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg116Trp	VAR_003647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003647	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	109	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Pro119Leu	VAR_003648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003648	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	111	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Pro119Leu	VAR_003648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003648	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	120	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Pro119Leu	VAR_003648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003648	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	112	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Ala122Gly	VAR_025572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025572	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	114	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Ala122Gly	VAR_025572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025572	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	123	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Ala122Gly	VAR_025572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025572	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	115	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Val124Asp	VAR_011011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011011	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	116	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Val124Asp	VAR_011011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011011	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	125	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Val124Asp	VAR_011011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011011	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	117	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Arg149Leu	VAR_003649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003649	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	141	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg149Leu	VAR_003649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003649	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	150	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg149Leu	VAR_003649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003649	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	142	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Arg149Gln	VAR_003650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003650	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	141	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg149Gln	VAR_003650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003650	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	150	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg149Gln	VAR_003650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003650	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	142	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Arg167Gln	VAR_003651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003651	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	160	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg167Gln	VAR_003651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003651	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	168	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg167Gln	VAR_003651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003651	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	161	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Arg167Trp	VAR_003652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003652	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	160	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg167Trp	VAR_003652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003652	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	168	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg167Trp	VAR_003652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003652	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	161	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Arg173Gln	VAR_003653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003653	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	166	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg173Gln	VAR_003653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003653	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	174	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg173Gln	VAR_003653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003653	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	167	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Arg173Trp	VAR_003654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003654	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	166	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg173Trp	VAR_003654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003654	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	174	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg173Trp	VAR_003654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003654	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	167	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Leu177Arg	VAR_003655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003655	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	170	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Leu177Arg	VAR_003655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003655	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	178	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Leu177Arg	VAR_003655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003655	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	171	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Asp178Asn	VAR_011012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011012	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	171	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Asp178Asn	VAR_011012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011012	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	179	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Asp178Asn	VAR_011012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011012	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	172	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Arg195Cys	VAR_003656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003656	rs34413634 Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	189	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg195Cys	VAR_003656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003656	rs34413634 Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	282	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg195Cys	VAR_003656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003656	rs34413634 Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	190	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Arg201Trp	VAR_003657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003657	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	199	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg201Trp	VAR_003657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003657	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	291	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg201Trp	VAR_003657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003657	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	199	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Val202Leu	VAR_011013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011013	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	200	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Val202Leu	VAR_011013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011013	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	292	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Val202Leu	VAR_011013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011013	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	200	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Glu209Lys	VAR_011014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011014	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	207	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Glu209Lys	VAR_011014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011014	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	299	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Glu209Lys	VAR_011014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011014	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	211	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Met212Val	VAR_025573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025573	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	210	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Met212Val	VAR_025573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025573	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	302	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Met212Val	VAR_025573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025573	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	214	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Gly216Asp	VAR_011015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011015	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	214	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Gly216Asp	VAR_011015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011015	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	306	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Gly216Asp	VAR_011015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011015	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	218	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Gln217His	VAR_011016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011016	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	215	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Gln217His	VAR_011016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011016	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	307	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Gln217His	VAR_011016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011016	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	219	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Gln217Leu	VAR_011017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011017	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	215	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Gln217Leu	VAR_011017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011017	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	307	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Gln217Leu	VAR_011017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011017	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	219	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Ala219Asp	VAR_011018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011018	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	217	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Ala219Asp	VAR_011018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011018	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	309	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Ala219Asp	VAR_011018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011018	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	221	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Val222Met	VAR_003658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003658	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	220	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Val222Met	VAR_003658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003658	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	312	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Val222Met	VAR_003658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003658	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	224	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Glu223Lys	VAR_003659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003659	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	221	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Glu223Lys	VAR_003659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003659	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	313	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Glu223Lys	VAR_003659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003659	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	225	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Arg225Gly	VAR_003660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003660	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	223	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg225Gly	VAR_003660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003660	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	315	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg225Gly	VAR_003660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003660	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	227	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Arg225Gln	VAR_025574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025574	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	223	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Arg225Gln	VAR_025574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025574	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	315	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Arg225Gln	VAR_025574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025574	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	227	pfam01379	20149500,NP_000181
3145	1170217	Disease	p.Gly236Ser	VAR_025575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025575	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	235	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Gly236Ser	VAR_025575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025575	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	326	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Leu238Arg	VAR_003661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003661	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	237	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Leu238Arg	VAR_003661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003661	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	328	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Leu244Pro	VAR_025576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025576	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	243	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Leu244Pro	VAR_025576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025576	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	334	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Leu245Arg	VAR_003662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003662	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	2	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Leu245Arg	VAR_003662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003662	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	244	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Leu245Arg	VAR_003662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003662	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	335	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Cys247Phe	VAR_003663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003663	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	4	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Cys247Phe	VAR_003663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003663	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	246	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Cys247Phe	VAR_003663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003663	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	337	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Cys247Arg	VAR_003664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003664	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	4	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Cys247Arg	VAR_003664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003664	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	246	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Cys247Arg	VAR_003664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003664	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	337	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Glu250Ala	VAR_003665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003665	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	7	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Glu250Ala	VAR_003665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003665	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	249	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Glu250Ala	VAR_003665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003665	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	340	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Glu250Lys	VAR_003666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003666	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	7	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Glu250Lys	VAR_003666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003666	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	249	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Glu250Lys	VAR_003666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003666	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	340	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Glu250Gln	VAR_011020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011020	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	7	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Glu250Gln	VAR_011020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011020	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	249	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Glu250Gln	VAR_011020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011020	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	340	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Glu250Val	VAR_011021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011021	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	7	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Glu250Val	VAR_011021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011021	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	249	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Glu250Val	VAR_011021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011021	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	340	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Ala252Thr	VAR_003667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003667	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	9	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Ala252Thr	VAR_003667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003667	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	251	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Ala252Thr	VAR_003667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003667	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	342	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Ala252Val	VAR_003668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003668	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	9	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Ala252Val	VAR_003668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003668	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	251	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Ala252Val	VAR_003668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003668	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	342	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Leu254Pro	VAR_025577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025577	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	11	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Leu254Pro	VAR_025577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025577	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	253	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Leu254Pro	VAR_025577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025577	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	344	COG0181	20149500,NP_000181
3145	1170217	Disease	p.His256Asn	VAR_003669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003669	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	13	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.His256Asn	VAR_003669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003669	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	255	cd00494	20149500,NP_000181
3145	1170217	Disease	p.His256Asn	VAR_003669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003669	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	346	COG0181	20149500,NP_000181
3145	1170217	Disease	p.His256Tyr	VAR_011022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011022	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	13	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.His256Tyr	VAR_011022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011022	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	255	cd00494	20149500,NP_000181
3145	1170217	Disease	p.His256Tyr	VAR_011022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011022	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	346	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Gly260Asp	VAR_025578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025578	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	17	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Gly260Asp	VAR_025578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025578	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	259	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Gly260Asp	VAR_025578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025578	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	350	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Cys261Tyr	VAR_025579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025579	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	18	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Cys261Tyr	VAR_025579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025579	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	260	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Cys261Tyr	VAR_025579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025579	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	351	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Val267Met	VAR_011023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011023	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	24	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Val267Met	VAR_011023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011023	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	266	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Val267Met	VAR_011023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011023	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	357	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Thr269Ile	VAR_003670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003670	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	26	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Thr269Ile	VAR_003670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003670	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	268	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Thr269Ile	VAR_003670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003670	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	359	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Ala270Asp	VAR_011024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011024	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	27	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Ala270Asp	VAR_011024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011024	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	269	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Ala270Asp	VAR_011024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011024	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	360	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Ala270Gly	VAR_011025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011025	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	27	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Ala270Gly	VAR_011025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011025	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	269	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Ala270Gly	VAR_011025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011025	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	360	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Gly274Arg	VAR_003671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003671	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	35	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Gly274Arg	VAR_003671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003671	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	273	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Gly274Arg	VAR_003671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003671	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	364	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Leu278Pro	VAR_003672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003672	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	55	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Leu278Pro	VAR_003672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003672	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	277	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Leu278Pro	VAR_003672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003672	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	419	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Gly280Arg	VAR_003673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003673	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	57	pfam03900	20149500,NP_000181
3145	1170217	Disease	p.Gly280Arg	VAR_003673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003673	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	279	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Gly280Arg	VAR_003673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003673	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	421	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Gly335Asp	VAR_011028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011028	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	344	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Gly335Asp	VAR_011028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011028	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	455	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Gly335Ser	VAR_011029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011029	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	344	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Gly335Ser	VAR_011029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011029	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	455	COG0181	20149500,NP_000181
3145	1170217	Disease	p.Leu343Pro	VAR_025580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025580	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	352	cd00494	20149500,NP_000181
3145	1170217	Disease	p.Leu343Pro	VAR_025580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025580	- Acute intermittent porphyria (AIP) [MIM:176000]	SWISS	463	COG0181	20149500,NP_000181
83872	85542049	Disease	p.Gln5345Arg	VAR_024818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024818	- Age-related macular degeneration type 1 (ARMD1) [MIM:603075]	SWISS	65	cd00053	118572606,NP_114141
83872	85542049	Disease	p.Gln5345Arg	VAR_024818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024818	- Age-related macular degeneration type 1 (ARMD1) [MIM:603075]	SWISS	66	smart00181	118572606,NP_114141
83872	85542049	Disease	p.Gln5345Arg	VAR_024818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024818	- Age-related macular degeneration type 1 (ARMD1) [MIM:603075]	SWISS	42	pfam07645	118572606,NP_114141
83872	85542049	Disease	p.Gln5345Arg	VAR_024818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024818	- Age-related macular degeneration type 1 (ARMD1) [MIM:603075]	SWISS	69	cd00054	118572606,NP_114141
83872	85542049	Disease	p.Gln5345Arg	VAR_024818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024818	- Age-related macular degeneration type 1 (ARMD1) [MIM:603075]	SWISS	62	smart00179	118572606,NP_114141
83872	85542049	Disease	p.Gln5345Arg	VAR_024818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024818	- Age-related macular degeneration type 1 (ARMD1) [MIM:603075]	SWISS	41	pfam00008	118572606,NP_114141
3155	24418852	Disease	p.Glu37Lys	VAR_058440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058440	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	3	cd07938	62198232,NP_000182
3155	24418852	Disease	p.Glu37Lys	VAR_058440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058440	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	3	cd07937	62198232,NP_000182
3155	24418852	Disease	p.Glu37Lys	VAR_058440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058440	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	5	cd07948	62198232,NP_000182
3155	24418852	Disease	p.Glu37Lys	VAR_058440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058440	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	5	cd07943	62198232,NP_000182
3155	24418852	Disease	p.Glu37Lys	VAR_058440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058440	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	2	cd03174	62198232,NP_000182
3155	24418852	Disease	p.Glu37Lys	VAR_058440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058440	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	7	COG0119	62198232,NP_000182
3155	24418852	Disease	p.Arg41Gln	VAR_003744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003744	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	7	cd07938	62198232,NP_000182
3155	24418852	Disease	p.Arg41Gln	VAR_003744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003744	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	7	cd07937	62198232,NP_000182
3155	24418852	Disease	p.Arg41Gln	VAR_003744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003744	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	9	cd07948	62198232,NP_000182
3155	24418852	Disease	p.Arg41Gln	VAR_003744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003744	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	9	cd07943	62198232,NP_000182
3155	24418852	Disease	p.Arg41Gln	VAR_003744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003744	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	6	cd03174	62198232,NP_000182
3155	24418852	Disease	p.Arg41Gln	VAR_003744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003744	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	11	COG0119	62198232,NP_000182
3155	24418852	Disease	p.Asp42Glu	VAR_003745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003745	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	8	cd07938	62198232,NP_000182
3155	24418852	Disease	p.Asp42Glu	VAR_003745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003745	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	8	cd07937	62198232,NP_000182
3155	24418852	Disease	p.Asp42Glu	VAR_003745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003745	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	10	cd07948	62198232,NP_000182
3155	24418852	Disease	p.Asp42Glu	VAR_003745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003745	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	10	cd07943	62198232,NP_000182
3155	24418852	Disease	p.Asp42Glu	VAR_003745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003745	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	7	cd03174	62198232,NP_000182
3155	24418852	Disease	p.Asp42Glu	VAR_003745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003745	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	10	cd07947	62198232,NP_000182
3155	24418852	Disease	p.Asp42Glu	VAR_003745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003745	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	7	cd07945	62198232,NP_000182
3155	24418852	Disease	p.Asp42Glu	VAR_003745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003745	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	2	pfam00682	62198232,NP_000182
3155	24418852	Disease	p.Asp42Glu	VAR_003745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003745	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	12	COG0119	62198232,NP_000182
3155	24418852	Disease	p.Asp42Gly	VAR_003746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003746	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	8	cd07938	62198232,NP_000182
3155	24418852	Disease	p.Asp42Gly	VAR_003746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003746	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	8	cd07937	62198232,NP_000182
3155	24418852	Disease	p.Asp42Gly	VAR_003746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003746	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	10	cd07948	62198232,NP_000182
3155	24418852	Disease	p.Asp42Gly	VAR_003746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003746	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	10	cd07943	62198232,NP_000182
3155	24418852	Disease	p.Asp42Gly	VAR_003746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003746	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	7	cd03174	62198232,NP_000182
3155	24418852	Disease	p.Asp42Gly	VAR_003746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003746	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	10	cd07947	62198232,NP_000182
3155	24418852	Disease	p.Asp42Gly	VAR_003746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003746	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	7	cd07945	62198232,NP_000182
3155	24418852	Disease	p.Asp42Gly	VAR_003746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003746	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	2	pfam00682	62198232,NP_000182
3155	24418852	Disease	p.Asp42Gly	VAR_003746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003746	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	12	COG0119	62198232,NP_000182
3155	24418852	Disease	p.Asp42His	VAR_003747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003747	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	8	cd07938	62198232,NP_000182
3155	24418852	Disease	p.Asp42His	VAR_003747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003747	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	8	cd07937	62198232,NP_000182
3155	24418852	Disease	p.Asp42His	VAR_003747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003747	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	10	cd07948	62198232,NP_000182
3155	24418852	Disease	p.Asp42His	VAR_003747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003747	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	10	cd07943	62198232,NP_000182
3155	24418852	Disease	p.Asp42His	VAR_003747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003747	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	7	cd03174	62198232,NP_000182
3155	24418852	Disease	p.Asp42His	VAR_003747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003747	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	10	cd07947	62198232,NP_000182
3155	24418852	Disease	p.Asp42His	VAR_003747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003747	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	7	cd07945	62198232,NP_000182
3155	24418852	Disease	p.Asp42His	VAR_003747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003747	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	2	pfam00682	62198232,NP_000182
3155	24418852	Disease	p.Asp42His	VAR_003747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003747	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	12	COG0119	62198232,NP_000182
3155	24418852	Disease	p.Lys48Asn	VAR_058441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058441	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	14	cd07938	62198232,NP_000182
3155	24418852	Disease	p.Lys48Asn	VAR_058441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058441	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	15	cd07937	62198232,NP_000182
3155	24418852	Disease	p.Lys48Asn	VAR_058441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058441	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	16	cd07948	62198232,NP_000182
3155	24418852	Disease	p.Lys48Asn	VAR_058441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058441	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	16	cd07943	62198232,NP_000182
3155	24418852	Disease	p.Lys48Asn	VAR_058441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058441	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	13	cd03174	62198232,NP_000182
3155	24418852	Disease	p.Lys48Asn	VAR_058441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058441	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	16	cd07947	62198232,NP_000182
3155	24418852	Disease	p.Lys48Asn	VAR_058441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058441	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	13	cd07945	62198232,NP_000182
3155	24418852	Disease	p.Lys48Asn	VAR_058441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058441	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	8	pfam00682	62198232,NP_000182
3155	24418852	Disease	p.Lys48Asn	VAR_058441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058441	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	18	COG0119	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	VAR_003748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003748	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	36	cd07940	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	VAR_003748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003748	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	41	cd07938	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	VAR_003748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003748	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	42	cd07937	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	VAR_003748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003748	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	36	cd07939	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	VAR_003748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003748	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	38	cd07948	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	VAR_003748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003748	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	38	cd07943	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	VAR_003748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003748	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	45	cd03174	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	VAR_003748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003748	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	40	cd07947	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	VAR_003748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003748	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	36	cd07945	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	VAR_003748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003748	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	31	pfam00682	62198232,NP_000182
3155	24418852	Disease	p.Val70Leu	VAR_003748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003748	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	40	COG0119	62198232,NP_000182
3155	24418852	Disease	p.Ser75Arg	VAR_058442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058442	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	42	cd07940	62198232,NP_000182
3155	24418852	Disease	p.Ser75Arg	VAR_058442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058442	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	46	cd07938	62198232,NP_000182
3155	24418852	Disease	p.Ser75Arg	VAR_058442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058442	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	47	cd07937	62198232,NP_000182
3155	24418852	Disease	p.Ser75Arg	VAR_058442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058442	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	39_G	cd07939	62198232,NP_000182
3155	24418852	Disease	p.Ser75Arg	VAR_058442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058442	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	43	cd07948	62198232,NP_000182
3155	24418852	Disease	p.Ser75Arg	VAR_058442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058442	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	66	cd07943	62198232,NP_000182
3155	24418852	Disease	p.Ser75Arg	VAR_058442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058442	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	50	cd03174	62198232,NP_000182
3155	24418852	Disease	p.Ser75Arg	VAR_058442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058442	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	46	cd07947	62198232,NP_000182
3155	24418852	Disease	p.Ser75Arg	VAR_058442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058442	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	41	cd07945	62198232,NP_000182
3155	24418852	Disease	p.Ser75Arg	VAR_058442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058442	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	48	pfam00682	62198232,NP_000182
3155	24418852	Disease	p.Ser75Arg	VAR_058442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058442	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	45	COG0119	62198232,NP_000182
3155	24418852	Disease	p.Ser142Phe	VAR_058443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058443	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	119	cd07940	62198232,NP_000182
3155	24418852	Disease	p.Ser142Phe	VAR_058443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058443	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	197	cd07938	62198232,NP_000182
3155	24418852	Disease	p.Ser142Phe	VAR_058443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058443	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	129	cd07937	62198232,NP_000182
3155	24418852	Disease	p.Ser142Phe	VAR_058443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058443	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	109	cd07939	62198232,NP_000182
3155	24418852	Disease	p.Ser142Phe	VAR_058443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058443	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	108	cd07948	62198232,NP_000182
3155	24418852	Disease	p.Ser142Phe	VAR_058443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058443	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	120	cd07943	62198232,NP_000182
3155	24418852	Disease	p.Ser142Phe	VAR_058443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058443	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	237	cd03174	62198232,NP_000182
3155	24418852	Disease	p.Ser142Phe	VAR_058443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058443	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	112	cd07947	62198232,NP_000182
3155	24418852	Disease	p.Ser142Phe	VAR_058443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058443	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	109	cd07945	62198232,NP_000182
3155	24418852	Disease	p.Ser142Phe	VAR_058443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058443	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	130	pfam00682	62198232,NP_000182
3155	24418852	Disease	p.Ser142Phe	VAR_058443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058443	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	120	COG0119	62198232,NP_000182
3155	24418852	Disease	p.Cys174Tyr	VAR_058444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058444	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	155	cd07940	62198232,NP_000182
3155	24418852	Disease	p.Cys174Tyr	VAR_058444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058444	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	245	cd07938	62198232,NP_000182
3155	24418852	Disease	p.Cys174Tyr	VAR_058444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058444	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	170	cd07937	62198232,NP_000182
3155	24418852	Disease	p.Cys174Tyr	VAR_058444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058444	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	136	cd07939	62198232,NP_000182
3155	24418852	Disease	p.Cys174Tyr	VAR_058444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058444	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	142	cd07948	62198232,NP_000182
3155	24418852	Disease	p.Cys174Tyr	VAR_058444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058444	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	142_G	cd07943	62198232,NP_000182
3155	24418852	Disease	p.Cys174Tyr	VAR_058444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058444	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	279	cd03174	62198232,NP_000182
3155	24418852	Disease	p.Cys174Tyr	VAR_058444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058444	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	144	cd07947	62198232,NP_000182
3155	24418852	Disease	p.Cys174Tyr	VAR_058444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058444	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	142_G	cd07945	62198232,NP_000182
3155	24418852	Disease	p.Cys174Tyr	VAR_058444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058444	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	166	pfam00682	62198232,NP_000182
3155	24418852	Disease	p.Cys174Tyr	VAR_058444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058444	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	162	COG0119	62198232,NP_000182
3155	24418852	Disease	p.Phe192Ser	VAR_058445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058445	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	173	cd07940	62198232,NP_000182
3155	24418852	Disease	p.Phe192Ser	VAR_058445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058445	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	267	cd07938	62198232,NP_000182
3155	24418852	Disease	p.Phe192Ser	VAR_058445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058445	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	188	cd07937	62198232,NP_000182
3155	24418852	Disease	p.Phe192Ser	VAR_058445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058445	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	154	cd07939	62198232,NP_000182
3155	24418852	Disease	p.Phe192Ser	VAR_058445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058445	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	154	cd07948	62198232,NP_000182
3155	24418852	Disease	p.Phe192Ser	VAR_058445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058445	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	157	cd07943	62198232,NP_000182
3155	24418852	Disease	p.Phe192Ser	VAR_058445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058445	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	316	cd03174	62198232,NP_000182
3155	24418852	Disease	p.Phe192Ser	VAR_058445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058445	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	163_G	cd07947	62198232,NP_000182
3155	24418852	Disease	p.Phe192Ser	VAR_058445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058445	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	156	cd07945	62198232,NP_000182
3155	24418852	Disease	p.Phe192Ser	VAR_058445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058445	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	184	pfam00682	62198232,NP_000182
3155	24418852	Disease	p.Phe192Ser	VAR_058445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058445	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	180	COG0119	62198232,NP_000182
3155	24418852	Disease	p.Ile200Phe	VAR_058446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058446	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	182	cd07940	62198232,NP_000182
3155	24418852	Disease	p.Ile200Phe	VAR_058446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058446	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	281	cd07938	62198232,NP_000182
3155	24418852	Disease	p.Ile200Phe	VAR_058446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058446	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	209	cd07937	62198232,NP_000182
3155	24418852	Disease	p.Ile200Phe	VAR_058446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058446	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	162	cd07939	62198232,NP_000182
3155	24418852	Disease	p.Ile200Phe	VAR_058446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058446	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	163	cd07948	62198232,NP_000182
3155	24418852	Disease	p.Ile200Phe	VAR_058446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058446	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	165	cd07943	62198232,NP_000182
3155	24418852	Disease	p.Ile200Phe	VAR_058446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058446	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	339	cd03174	62198232,NP_000182
3155	24418852	Disease	p.Ile200Phe	VAR_058446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058446	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	170	cd07947	62198232,NP_000182
3155	24418852	Disease	p.Ile200Phe	VAR_058446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058446	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	164	cd07945	62198232,NP_000182
3155	24418852	Disease	p.Ile200Phe	VAR_058446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058446	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	198	pfam00682	62198232,NP_000182
3155	24418852	Disease	p.Ile200Phe	VAR_058446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058446	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	194	COG0119	62198232,NP_000182
3155	24418852	Disease	p.Ser201Tyr	VAR_058447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058447	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	183	cd07940	62198232,NP_000182
3155	24418852	Disease	p.Ser201Tyr	VAR_058447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058447	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	282	cd07938	62198232,NP_000182
3155	24418852	Disease	p.Ser201Tyr	VAR_058447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058447	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	210	cd07937	62198232,NP_000182
3155	24418852	Disease	p.Ser201Tyr	VAR_058447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058447	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	163	cd07939	62198232,NP_000182
3155	24418852	Disease	p.Ser201Tyr	VAR_058447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058447	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	164	cd07948	62198232,NP_000182
3155	24418852	Disease	p.Ser201Tyr	VAR_058447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058447	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	166	cd07943	62198232,NP_000182
3155	24418852	Disease	p.Ser201Tyr	VAR_058447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058447	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	340	cd03174	62198232,NP_000182
3155	24418852	Disease	p.Ser201Tyr	VAR_058447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058447	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	171	cd07947	62198232,NP_000182
3155	24418852	Disease	p.Ser201Tyr	VAR_058447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058447	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	165	cd07945	62198232,NP_000182
3155	24418852	Disease	p.Ser201Tyr	VAR_058447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058447	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	199	pfam00682	62198232,NP_000182
3155	24418852	Disease	p.Ser201Tyr	VAR_058447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058447	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	195	COG0119	62198232,NP_000182
3155	24418852	Disease	p.Gly203Glu	VAR_058448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058448	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	185	cd07940	62198232,NP_000182
3155	24418852	Disease	p.Gly203Glu	VAR_058448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058448	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	284	cd07938	62198232,NP_000182
3155	24418852	Disease	p.Gly203Glu	VAR_058448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058448	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	212	cd07937	62198232,NP_000182
3155	24418852	Disease	p.Gly203Glu	VAR_058448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058448	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	165	cd07939	62198232,NP_000182
3155	24418852	Disease	p.Gly203Glu	VAR_058448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058448	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	166	cd07948	62198232,NP_000182
3155	24418852	Disease	p.Gly203Glu	VAR_058448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058448	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	168	cd07943	62198232,NP_000182
3155	24418852	Disease	p.Gly203Glu	VAR_058448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058448	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	342	cd03174	62198232,NP_000182
3155	24418852	Disease	p.Gly203Glu	VAR_058448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058448	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	173	cd07947	62198232,NP_000182
3155	24418852	Disease	p.Gly203Glu	VAR_058448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058448	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	167	cd07945	62198232,NP_000182
3155	24418852	Disease	p.Gly203Glu	VAR_058448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058448	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	201	pfam00682	62198232,NP_000182
3155	24418852	Disease	p.Gly203Glu	VAR_058448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058448	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	197	COG0119	62198232,NP_000182
3155	24418852	Disease	p.Asp204Asn	VAR_058449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058449	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	186	cd07940	62198232,NP_000182
3155	24418852	Disease	p.Asp204Asn	VAR_058449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058449	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	285	cd07938	62198232,NP_000182
3155	24418852	Disease	p.Asp204Asn	VAR_058449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058449	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	213	cd07937	62198232,NP_000182
3155	24418852	Disease	p.Asp204Asn	VAR_058449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058449	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	166	cd07939	62198232,NP_000182
3155	24418852	Disease	p.Asp204Asn	VAR_058449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058449	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	167	cd07948	62198232,NP_000182
3155	24418852	Disease	p.Asp204Asn	VAR_058449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058449	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	169	cd07943	62198232,NP_000182
3155	24418852	Disease	p.Asp204Asn	VAR_058449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058449	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	343	cd03174	62198232,NP_000182
3155	24418852	Disease	p.Asp204Asn	VAR_058449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058449	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	174	cd07947	62198232,NP_000182
3155	24418852	Disease	p.Asp204Asn	VAR_058449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058449	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	168	cd07945	62198232,NP_000182
3155	24418852	Disease	p.Asp204Asn	VAR_058449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058449	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	202	pfam00682	62198232,NP_000182
3155	24418852	Disease	p.Asp204Asn	VAR_058449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058449	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	198	COG0119	62198232,NP_000182
3155	24418852	Disease	p.His233Arg	VAR_003749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003749	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	237	cd07940	62198232,NP_000182
3155	24418852	Disease	p.His233Arg	VAR_003749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003749	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	317	cd07938	62198232,NP_000182
3155	24418852	Disease	p.His233Arg	VAR_003749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003749	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	243	cd07937	62198232,NP_000182
3155	24418852	Disease	p.His233Arg	VAR_003749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003749	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	195	cd07939	62198232,NP_000182
3155	24418852	Disease	p.His233Arg	VAR_003749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003749	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	197	cd07948	62198232,NP_000182
3155	24418852	Disease	p.His233Arg	VAR_003749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003749	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	202	cd07943	62198232,NP_000182
3155	24418852	Disease	p.His233Arg	VAR_003749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003749	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	401	cd03174	62198232,NP_000182
3155	24418852	Disease	p.His233Arg	VAR_003749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003749	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	212	cd07947	62198232,NP_000182
3155	24418852	Disease	p.His233Arg	VAR_003749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003749	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	197	cd07945	62198232,NP_000182
3155	24418852	Disease	p.His233Arg	VAR_003749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003749	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	234	pfam00682	62198232,NP_000182
3155	24418852	Disease	p.His233Arg	VAR_003749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003749	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	236	COG0119	62198232,NP_000182
3155	24418852	Disease	p.Leu263Pro	VAR_058450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058450	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	267	cd07940	62198232,NP_000182
3155	24418852	Disease	p.Leu263Pro	VAR_058450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058450	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	348	cd07938	62198232,NP_000182
3155	24418852	Disease	p.Leu263Pro	VAR_058450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058450	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	273	cd07937	62198232,NP_000182
3155	24418852	Disease	p.Leu263Pro	VAR_058450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058450	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	225	cd07939	62198232,NP_000182
3155	24418852	Disease	p.Leu263Pro	VAR_058450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058450	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	227	cd07948	62198232,NP_000182
3155	24418852	Disease	p.Leu263Pro	VAR_058450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058450	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	232	cd07943	62198232,NP_000182
3155	24418852	Disease	p.Leu263Pro	VAR_058450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058450	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	435	cd03174	62198232,NP_000182
3155	24418852	Disease	p.Leu263Pro	VAR_058450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058450	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	242	cd07947	62198232,NP_000182
3155	24418852	Disease	p.Leu263Pro	VAR_058450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058450	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	227	cd07945	62198232,NP_000182
3155	24418852	Disease	p.Leu263Pro	VAR_058450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058450	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	264	pfam00682	62198232,NP_000182
3155	24418852	Disease	p.Leu263Pro	VAR_058450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058450	- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	267	COG0119	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	VAR_014202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014202	rs28934894 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	277	cd07940	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	VAR_014202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014202	rs28934894 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	380	cd07938	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	VAR_014202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014202	rs28934894 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	283	cd07937	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	VAR_014202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014202	rs28934894 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	235	cd07939	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	VAR_014202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014202	rs28934894 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	242_G	cd07948	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	VAR_014202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014202	rs28934894 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	242	cd07943	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	VAR_014202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014202	rs28934894 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	467	cd03174	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	VAR_014202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014202	rs28934894 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	252	cd07947	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	VAR_014202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014202	rs28934894 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	237	cd07945	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	VAR_014202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014202	rs28934894 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	281	pfam00682	62198232,NP_000182
3155	24418852	Disease	p.Glu279Lys	VAR_014202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014202	rs28934894 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]	SWISS	283	COG0119	62198232,NP_000182
3158	1708234	Disease	p.Val54Met	VAR_032757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032757	rs28937320 HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]	SWISS	3	COG3425	5031751,NP_005509
3158	1708234	Disease	p.Val54Met	VAR_032757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032757	rs28937320 HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]	SWISS	2	cd00827	5031751,NP_005509
3158	1708234	Disease	p.Val54Met	VAR_032757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032757	rs28937320 HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]	SWISS	2	pfam01154	5031751,NP_005509
3158	1708234	Disease	p.Tyr167Cys	VAR_032758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032758	- HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]	SWISS	127	COG3425	5031751,NP_005509
3158	1708234	Disease	p.Tyr167Cys	VAR_032758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032758	- HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]	SWISS	185	cd00827	5031751,NP_005509
3158	1708234	Disease	p.Tyr167Cys	VAR_032758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032758	- HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]	SWISS	115	pfam01154	5031751,NP_005509
3158	1708234	Disease	p.Tyr167Cys	VAR_032758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032758	- HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]	SWISS	12	pfam08545	5031751,NP_005509
3158	1708234	Disease	p.Phe174Leu	VAR_032711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032711	- HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]	SWISS	134	COG3425	5031751,NP_005509
3158	1708234	Disease	p.Phe174Leu	VAR_032711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032711	- HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]	SWISS	192	cd00827	5031751,NP_005509
3158	1708234	Disease	p.Phe174Leu	VAR_032711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032711	- HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]	SWISS	122	pfam01154	5031751,NP_005509
3158	1708234	Disease	p.Phe174Leu	VAR_032711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032711	- HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]	SWISS	19	pfam08545	5031751,NP_005509
3158	1708234	Disease	p.Gly212Arg	VAR_032759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032759	- HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]	SWISS	183	COG3425	5031751,NP_005509
3158	1708234	Disease	p.Gly212Arg	VAR_032759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032759	- HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]	SWISS	255	cd00827	5031751,NP_005509
3158	1708234	Disease	p.Gly212Arg	VAR_032759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032759	- HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]	SWISS	160	pfam01154	5031751,NP_005509
3158	1708234	Disease	p.Gly212Arg	VAR_032759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032759	- HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]	SWISS	75	pfam08545	5031751,NP_005509
3158	1708234	Disease	p.Arg500His	VAR_032760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032760	- HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]	SWISS	486	COG3425	5031751,NP_005509
3158	1708234	Disease	p.Arg500His	VAR_032760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032760	- HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]	SWISS	289	pfam08540	5031751,NP_005509
6927	51338763	Disease	p.Leu12His	VAR_010537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010537	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	12	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Gly20Arg	VAR_012483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012483	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	20	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Gly31Asp	VAR_010538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010538	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	31	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Glu48Lys	VAR_010539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010539	- Diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:612520]	SWISS	70	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Leu107Arg	VAR_010541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010541	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	180	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Lys117Glu	VAR_010542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010542	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	190	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Tyr122Cys	VAR_003756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003756	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	195	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Ile128Asn	VAR_010543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010543	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	201	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Pro129Thr	VAR_010544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010544	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	202	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Arg131Gln	VAR_010545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010545	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	204	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Arg131Trp	VAR_010546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010546	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	204	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Val133Met	VAR_010547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010547	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	206	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Ser142Phe	VAR_003757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003757	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	215	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.His143Tyr	VAR_010548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010548	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	216	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Lys158Asn	VAR_010549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010549	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	231	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Arg159Gln	VAR_003758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003758	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	232	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Arg159Trp	VAR_010550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010550	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	232	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Ala161Thr	VAR_010551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010551	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	234	pfam04814	256542297,NP_000536
6927	51338763	Disease	p.Arg200Trp	VAR_063069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063069	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	No Domain	N/A	256542297,NP_000536
6927	51338763	Disease	p.Arg203Cys	VAR_010554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010554	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	4	smart00389	256542297,NP_000536
6927	51338763	Disease	p.Arg203Cys	VAR_010554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010554	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	4	cd00086	256542297,NP_000536
6927	51338763	Disease	p.Arg203His	VAR_012484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012484	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	4	smart00389	256542297,NP_000536
6927	51338763	Disease	p.Arg203His	VAR_012484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012484	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	4	cd00086	256542297,NP_000536
6927	51338763	Disease	p.Lys205Gln	VAR_010555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010555	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	6	smart00389	256542297,NP_000536
6927	51338763	Disease	p.Lys205Gln	VAR_010555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010555	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	6	cd00086	256542297,NP_000536
6927	51338763	Disease	p.Arg229Gln	VAR_010556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010556	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	49	smart00389	256542297,NP_000536
6927	51338763	Disease	p.Arg229Gln	VAR_010556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010556	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	41	cd00086	256542297,NP_000536
6927	51338763	Disease	p.Cys241Gly	VAR_010557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010557	- Diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:612520]	SWISS	61	smart00389	256542297,NP_000536
6927	51338763	Disease	p.Cys241Gly	VAR_010557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010557	- Diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:612520]	SWISS	53	cd00086	256542297,NP_000536
6927	51338763	Disease	p.Cys241Gly	VAR_010557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010557	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	61	smart00389	256542297,NP_000536
6927	51338763	Disease	p.Cys241Gly	VAR_010557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010557	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	53	cd00086	256542297,NP_000536
6927	51338763	Disease	p.Val259Asp	VAR_010559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010559	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	79	smart00389	256542297,NP_000536
6927	51338763	Disease	p.Val259Asp	VAR_010559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010559	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	71	cd00086	256542297,NP_000536
6927	51338763	Disease	p.Thr260Met	VAR_010560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010560	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	80	smart00389	256542297,NP_000536
6927	51338763	Disease	p.Thr260Met	VAR_010560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010560	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	72	cd00086	256542297,NP_000536
6927	51338763	Disease	p.Arg263Cys	VAR_010561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010561	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	83	smart00389	256542297,NP_000536
6927	51338763	Disease	p.Arg263Cys	VAR_010561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010561	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	75	cd00086	256542297,NP_000536
6927	51338763	Disease	p.Arg271Trp	VAR_010562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010562	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	91	smart00389	256542297,NP_000536
6927	51338763	Disease	p.Arg271Trp	VAR_010562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010562	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	83	cd00086	256542297,NP_000536
6927	51338763	Disease	p.Arg272His	VAR_003759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003759	- Diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:612520]	SWISS	92	smart00389	256542297,NP_000536
6927	51338763	Disease	p.Arg272His	VAR_003759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003759	- Diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:612520]	SWISS	84	cd00086	256542297,NP_000536
6927	51338763	Disease	p.Arg272His	VAR_003759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003759	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	92	smart00389	256542297,NP_000536
6927	51338763	Disease	p.Arg272His	VAR_003759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003759	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	84	cd00086	256542297,NP_000536
6927	51338763	Disease	p.Gly415Arg	VAR_010565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010565	- Diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:612520]	SWISS	180	pfam04812	256542297,NP_000536
6927	51338763	Disease	p.Ser432Cys	VAR_012485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012485	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	197	pfam04812	256542297,NP_000536
6927	51338763	Disease	p.Pro447Leu	VAR_003760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003760	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	212	pfam04812	256542297,NP_000536
6927	51338763	Disease	p.Pro519Leu	VAR_010567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010567	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	294	pfam04812	256542297,NP_000536
6927	51338763	Disease	p.Thr537Arg	VAR_010568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010568	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	312	pfam04812	256542297,NP_000536
6927	51338763	Disease	p.Arg583Gly	VAR_003761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003761	- Diabetes mellitus insulin-dependent type 20 (IDDM20) [MIM:612520]	SWISS	42	pfam04813	256542297,NP_000536
6927	51338763	Disease	p.Ser594Ile	VAR_010571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010571	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	53	pfam04813	256542297,NP_000536
6927	51338763	Disease	p.Ile618Met	VAR_012486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012486	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	79	pfam04813	256542297,NP_000536
6927	51338763	Disease	p.Glu619Lys	VAR_010572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010572	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	80	pfam04813	256542297,NP_000536
6927	51338763	Disease	p.Thr620Ile	VAR_010573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010573	- Maturity-onset diabetes of the young type 3 (MODY3) [MIM:600496]	SWISS	81	pfam04813	256542297,NP_000536
6928	547664	Disease	p.Ser36Phe	VAR_046012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046012	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	58	pfam04814	4507397,NP_000449
6928	547664	Disease	p.Val61Gly	VAR_046013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046013	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	84	pfam04814	4507397,NP_000449
6928	547664	Disease	p.Gly76Cys	VAR_046014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046014	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	133	pfam04814	4507397,NP_000449
6928	547664	Disease	p.Val110Gly	VAR_046015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046015	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	177	pfam04814	4507397,NP_000449
6928	547664	Disease	p.Arg112Pro	VAR_046016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046016	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	179	pfam04814	4507397,NP_000449
6928	547664	Disease	p.Gln136Glu	VAR_046017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046017	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	203	pfam04814	4507397,NP_000449
6928	547664	Disease	p.Ser148Leu	VAR_046018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046018	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	215	pfam04814	4507397,NP_000449
6928	547664	Disease	p.Ser148Trp	VAR_046019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046019	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	215	pfam04814	4507397,NP_000449
6928	547664	Disease	p.Ser151Pro	VAR_046020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046020	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	218	pfam04814	4507397,NP_000449
6928	547664	Disease	p.His153Asn	VAR_046021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046021	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	220	pfam04814	4507397,NP_000449
6928	547664	Disease	p.Lys156Glu	VAR_046022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046022	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	223	pfam04814	4507397,NP_000449
6928	547664	Disease	p.Lys164Gln	VAR_046023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046023	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	231	pfam04814	4507397,NP_000449
6928	547664	Disease	p.Arg165His	VAR_046024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046024	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	232	pfam04814	4507397,NP_000449
6928	547664	Disease	p.Arg235Gln	VAR_046025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046025	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	4	smart00389	4507397,NP_000449
6928	547664	Disease	p.Arg235Gln	VAR_046025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046025	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	4	cd00086	4507397,NP_000449
6928	547664	Disease	p.Ala241Thr	VAR_046026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046026	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	15	smart00389	4507397,NP_000449
6928	547664	Disease	p.Ala241Thr	VAR_046026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046026	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	10	cd00086	4507397,NP_000449
6928	547664	Disease	p.Glu260Asp	VAR_046027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046027	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	48	smart00389	4507397,NP_000449
6928	547664	Disease	p.Glu260Asp	VAR_046027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046027	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	40	cd00086	4507397,NP_000449
6928	547664	Disease	p.Arg276Gly	VAR_046028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046028	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	64	smart00389	4507397,NP_000449
6928	547664	Disease	p.Arg276Gly	VAR_046028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046028	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	56	cd00086	4507397,NP_000449
6928	547664	Disease	p.Arg276Gln	VAR_046029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046029	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	64	smart00389	4507397,NP_000449
6928	547664	Disease	p.Arg276Gln	VAR_046029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046029	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	56	cd00086	4507397,NP_000449
6928	547664	Disease	p.Gly285Asp	VAR_046030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046030	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	73	smart00389	4507397,NP_000449
6928	547664	Disease	p.Gly285Asp	VAR_046030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046030	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	65	cd00086	4507397,NP_000449
6928	547664	Disease	p.Arg295Cys	VAR_046031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046031	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	83	smart00389	4507397,NP_000449
6928	547664	Disease	p.Arg295Cys	VAR_046031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046031	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	75	cd00086	4507397,NP_000449
6928	547664	Disease	p.Arg295His	VAR_046032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046032	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	83	smart00389	4507397,NP_000449
6928	547664	Disease	p.Arg295His	VAR_046032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046032	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	75	cd00086	4507397,NP_000449
6928	547664	Disease	p.Arg295Pro	VAR_046033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046033	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	83	smart00389	4507397,NP_000449
6928	547664	Disease	p.Arg295Pro	VAR_046033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046033	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	75	cd00086	4507397,NP_000449
6928	547664	Disease	p.Gly370Ser	VAR_046034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046034	- Renal cysts and diabetes syndrome (RCAD) [MIM:137920]	SWISS	94	pfam04812	4507397,NP_000449
6928	547664	Disease	p.Ser465Arg	VAR_017665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017665	- Non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	220	pfam04812	4507397,NP_000449
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	6	cd06935	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	4	cd06938	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	82	cd07173	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	82	cd06967	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	85	cd07166	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	97	cd06932	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	99	cd07160	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	79	cd07161	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	80	cd06962	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	79	cd06966	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	90_G	cd07157	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	88	cd06965	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	83	cd07162	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	84	cd06961	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	84	cd06968	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	86	cd06970	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	85	cd07169	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	92	cd07163	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	84	cd07168	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	91	cd06955	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	78	cd07167	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	77	cd07164	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	78	cd06957	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	77	cd07165	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	83	cd06964	31077205,NP_000448
3172	148886624	Disease	p.Arg136Trp	VAR_004668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004668	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	81	cd07170	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	194	cd06954	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	235	cd06934	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	178	cd07068	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	169	cd06946	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	131	cd06952	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	164	cd06935	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	134	cd07349	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	140	cd06929	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	187	cd06953	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	143	cd06937	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	133	cd06950	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	149	cd06938	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	154	cd07350	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	248	cd06932	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	145	cd07072	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	173	cd06943	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	147	cd07069	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	146	cd07070	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	109	cd06942	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	130	cd06157	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	132	cd07073	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	151	cd06949	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	174	cd06945	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	133	cd06930	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	702	smart00430	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	162	pfam00104	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	148	cd06951	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	143	cd06931	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	143	cd06948	31077205,NP_000448
3172	148886624	Disease	p.Glu285Gln	VAR_010601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010601	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	149	cd06944	31077205,NP_000448
3172	148886624	Disease	p.Val402Ile	VAR_004670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004670	- Maturity-onset diabetes of the young type 1 (MODY1) [MIM:125850]	SWISS	No Domain	N/A	31077205,NP_000448
3209	116242513	Disease	p.Gln371Leu	VAR_017775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017775	- Guttmacher syndrome [MIM:176305]	SWISS	59	pfam00046	24497554,NP_000513
3209	116242513	Disease	p.Gln371Leu	VAR_017775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017775	- Guttmacher syndrome [MIM:176305]	SWISS	81	cd00086	24497554,NP_000513
3209	116242513	Disease	p.Gln371Leu	VAR_017775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017775	- Guttmacher syndrome [MIM:176305]	SWISS	89	smart00389	24497554,NP_000513
3209	116242513	Disease	p.Asn372His	VAR_017776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017776	- Hand-foot-genital syndrome (HFGS) [MIM:140000]	SWISS	60	pfam00046	24497554,NP_000513
3209	116242513	Disease	p.Asn372His	VAR_017776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017776	- Hand-foot-genital syndrome (HFGS) [MIM:140000]	SWISS	82	cd00086	24497554,NP_000513
3209	116242513	Disease	p.Asn372His	VAR_017776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017776	- Hand-foot-genital syndrome (HFGS) [MIM:140000]	SWISS	90	smart00389	24497554,NP_000513
3199	6016292	Disease	p.Gln186Lys	VAR_048023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048023	- Microtia hearing impairment and cleft palate (MHICP) [MIM:612290]	SWISS	96	COG5576	10140847,NP_006726
3199	6016292	Disease	p.Gln186Lys	VAR_048023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048023	- Microtia hearing impairment and cleft palate (MHICP) [MIM:612290]	SWISS	53	pfam00046	10140847,NP_006726
3199	6016292	Disease	p.Gln186Lys	VAR_048023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048023	- Microtia hearing impairment and cleft palate (MHICP) [MIM:612290]	SWISS	83	smart00389	10140847,NP_006726
3199	6016292	Disease	p.Gln186Lys	VAR_048023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048023	- Microtia hearing impairment and cleft palate (MHICP) [MIM:612290]	SWISS	75	cd00086	10140847,NP_006726
3236	143811403	Disease	p.Met319Lys	VAR_022582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022582	- Congenital vertical talus (CVT) [MIM:192950]	SWISS	63	pfam00046	23510366,NP_002139
3236	143811403	Disease	p.Met319Lys	VAR_022582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022582	- Congenital vertical talus (CVT) [MIM:192950]	SWISS	93	smart00389	23510366,NP_002139
3236	143811403	Disease	p.Met319Lys	VAR_022582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022582	- Congenital vertical talus (CVT) [MIM:192950]	SWISS	85	cd00086	23510366,NP_002139
3239	223590221	Disease	p.Arg306Trp	VAR_031651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031651	rs28933082 Synpolydactyly 1 (SPD1) [MIM:186000]	SWISS	35	pfam00046	116734702,NP_000514
3239	223590221	Disease	p.Arg306Trp	VAR_031651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031651	rs28933082 Synpolydactyly 1 (SPD1) [MIM:186000]	SWISS	49	smart00389	116734702,NP_000514
3239	223590221	Disease	p.Arg306Trp	VAR_031651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031651	rs28933082 Synpolydactyly 1 (SPD1) [MIM:186000]	SWISS	41	cd00086	116734702,NP_000514
3239	223590221	Disease	p.Ser316Cys	VAR_015952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015952	rs28928892 Brachydactyly type D (BDD) [MIM:113200]	SWISS	50	pfam00046	116734702,NP_000514
3239	223590221	Disease	p.Ser316Cys	VAR_015952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015952	rs28928892 Brachydactyly type D (BDD) [MIM:113200]	SWISS	59	smart00389	116734702,NP_000514
3239	223590221	Disease	p.Ser316Cys	VAR_015952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015952	rs28928892 Brachydactyly type D (BDD) [MIM:113200]	SWISS	72	cd00086	116734702,NP_000514
3239	223590221	Disease	p.Ser316Cys	VAR_015952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015952	rs28928892 Brachydactyly type E (BDE) [MIM:113300]	SWISS	50	pfam00046	116734702,NP_000514
3239	223590221	Disease	p.Ser316Cys	VAR_015952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015952	rs28928892 Brachydactyly type E (BDE) [MIM:113300]	SWISS	59	smart00389	116734702,NP_000514
3239	223590221	Disease	p.Ser316Cys	VAR_015952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015952	rs28928892 Brachydactyly type E (BDE) [MIM:113300]	SWISS	72	cd00086	116734702,NP_000514
3239	223590221	Disease	p.Ile322Leu	VAR_015953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015953	rs28928891 Brachydactyly type E (BDE) [MIM:113300]	SWISS	56	pfam00046	116734702,NP_000514
3239	223590221	Disease	p.Ile322Leu	VAR_015953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015953	rs28928891 Brachydactyly type E (BDE) [MIM:113300]	SWISS	86	smart00389	116734702,NP_000514
3239	223590221	Disease	p.Ile322Leu	VAR_015953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015953	rs28928891 Brachydactyly type E (BDE) [MIM:113300]	SWISS	78	cd00086	116734702,NP_000514
3239	223590221	Disease	p.Gln325Arg	VAR_031652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031652	- Syndactyly type 5 [MIM:186300]	SWISS	59	pfam00046	116734702,NP_000514
3239	223590221	Disease	p.Gln325Arg	VAR_031652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031652	- Syndactyly type 5 [MIM:186300]	SWISS	89	smart00389	116734702,NP_000514
3239	223590221	Disease	p.Gln325Arg	VAR_031652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031652	- Syndactyly type 5 [MIM:186300]	SWISS	81	cd00086	116734702,NP_000514
3242	417144	Disease	p.Tyr160Cys	VAR_015445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015445	rs28934278 Tyrosinemia type 3 (TYRO3) [MIM:276710]	SWISS	183	COG3185	4504477,NP_002141
3242	417144	Disease	p.Tyr160Cys	VAR_015445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015445	rs28934278 Tyrosinemia type 3 (TYRO3) [MIM:276710]	SWISS	188	cd08342	4504477,NP_002141
3242	417144	Disease	p.Ala268Val	VAR_015447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015447	- Tyrosinemia type 3 (TYRO3) [MIM:276710]	SWISS	238	pfam00903	4504477,NP_002141
3242	417144	Disease	p.Ala268Val	VAR_015447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015447	- Tyrosinemia type 3 (TYRO3) [MIM:276710]	SWISS	290	COG3185	4504477,NP_002141
3242	417144	Disease	p.Ala268Val	VAR_015447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015447	- Tyrosinemia type 3 (TYRO3) [MIM:276710]	SWISS	138	cd06587	4504477,NP_002141
3242	417144	Disease	p.Ala268Val	VAR_015447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015447	- Tyrosinemia type 3 (TYRO3) [MIM:276710]	SWISS	147	cd07250	4504477,NP_002141
3242	417144	Disease	p.Ile335Met	VAR_015448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015448	- Tyrosinemia type 3 (TYRO3) [MIM:276710]	SWISS	362	COG3185	4504477,NP_002141
3242	417144	Disease	p.Ile335Met	VAR_015448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015448	- Tyrosinemia type 3 (TYRO3) [MIM:276710]	SWISS	221	cd06587	4504477,NP_002141
3242	417144	Disease	p.Ile335Met	VAR_015448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015448	- Tyrosinemia type 3 (TYRO3) [MIM:276710]	SWISS	252	cd07250	4504477,NP_002141
3248	129889	Disease	p.Ala140Pro	VAR_046209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046209	- Cranioosteoarthropathy (COA) [MIM:259100]	SWISS	195	pfam00106	31542939,NP_000851
3248	129889	Disease	p.Ala140Pro	VAR_046209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046209	- Cranioosteoarthropathy (COA) [MIM:259100]	SWISS	949	smart00822	31542939,NP_000851
3248	129889	Disease	p.Ala140Pro	VAR_046209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046209	- Cranioosteoarthropathy (COA) [MIM:259100]	SWISS	162	COG4221	31542939,NP_000851
3248	129889	Disease	p.Ala140Pro	VAR_046209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046209	- Cranioosteoarthropathy (COA) [MIM:259100]	SWISS	189	COG0623	31542939,NP_000851
3248	129889	Disease	p.Ala140Pro	VAR_046209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046209	- Cranioosteoarthropathy (COA) [MIM:259100]	SWISS	396	COG1028	31542939,NP_000851
3248	129889	Disease	p.Ala140Pro	VAR_046209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046209	- Cranioosteoarthropathy (COA) [MIM:259100]	SWISS	143	COG3967	31542939,NP_000851
3248	129889	Disease	p.Ala140Pro	VAR_046209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046209	- Cranioosteoarthropathy (COA) [MIM:259100]	SWISS	162	COG0300	31542939,NP_000851
3248	129889	Disease	p.Ala140Pro	VAR_046209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046209	- Cranioosteoarthropathy (COA) [MIM:259100]	SWISS	205	pfam08659	31542939,NP_000851
3248	129889	Disease	p.Ser193Pro	VAR_060792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060792	- Isolated congenital nail clubbing (ICNC) [MIM:119900]	SWISS	215	COG4221	31542939,NP_000851
3248	129889	Disease	p.Ser193Pro	VAR_060792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060792	- Isolated congenital nail clubbing (ICNC) [MIM:119900]	SWISS	310	COG0623	31542939,NP_000851
3248	129889	Disease	p.Ser193Pro	VAR_060792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060792	- Isolated congenital nail clubbing (ICNC) [MIM:119900]	SWISS	546	COG1028	31542939,NP_000851
3248	129889	Disease	p.Ser193Pro	VAR_060792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060792	- Isolated congenital nail clubbing (ICNC) [MIM:119900]	SWISS	196	COG3967	31542939,NP_000851
3248	129889	Disease	p.Ser193Pro	VAR_060792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060792	- Isolated congenital nail clubbing (ICNC) [MIM:119900]	SWISS	230	COG0300	31542939,NP_000851
3251	123497	Disease	p.Gly7Asp	VAR_006750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006750	- Gout [MIM:300323]	SWISS	No Domain	N/A	4504483,NP_000185
3251	123497	Disease	p.Val8Gly	VAR_006751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006751	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	No Domain	N/A	4504483,NP_000185
3251	123497	Disease	p.Gly16Asp	VAR_006752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006752	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	No Domain	N/A	4504483,NP_000185
3251	123497	Disease	p.Gly16Ser	VAR_006753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006753	- Gout [MIM:300323]	SWISS	No Domain	N/A	4504483,NP_000185
3251	123497	Disease	p.Asp20Val	VAR_006754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006754	- Gout [MIM:300323]	SWISS	No Domain	N/A	4504483,NP_000185
3251	123497	Disease	p.Leu41Pro	VAR_006756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006756	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	12	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Leu41Pro	VAR_006756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006756	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	11	COG2236	4504483,NP_000185
3251	123497	Disease	p.Leu41Pro	VAR_006756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006756	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	17	COG0634	4504483,NP_000185
3251	123497	Disease	p.Ile42Phe	VAR_006757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006757	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	13	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Ile42Phe	VAR_006757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006757	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	12	COG2236	4504483,NP_000185
3251	123497	Disease	p.Ile42Phe	VAR_006757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006757	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	18	COG0634	4504483,NP_000185
3251	123497	Disease	p.Ile42Thr	VAR_006758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006758	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	13	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Ile42Thr	VAR_006758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006758	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	12	COG2236	4504483,NP_000185
3251	123497	Disease	p.Ile42Thr	VAR_006758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006758	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	18	COG0634	4504483,NP_000185
3251	123497	Disease	p.Arg45Lys	VAR_006760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006760	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	16	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Arg45Lys	VAR_006760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006760	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	15	COG2236	4504483,NP_000185
3251	123497	Disease	p.Arg45Lys	VAR_006760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006760	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	21	COG0634	4504483,NP_000185
3251	123497	Disease	p.Arg48His	VAR_006761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006761	- Gout [MIM:300323]	SWISS	19	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Arg48His	VAR_006761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006761	- Gout [MIM:300323]	SWISS	18	COG2236	4504483,NP_000185
3251	123497	Disease	p.Arg48His	VAR_006761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006761	- Gout [MIM:300323]	SWISS	24	COG0634	4504483,NP_000185
3251	123497	Disease	p.Ala50Pro	VAR_006763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006763	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	27	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Ala50Pro	VAR_006763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006763	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	20	COG2236	4504483,NP_000185
3251	123497	Disease	p.Ala50Pro	VAR_006763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006763	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	26	COG0634	4504483,NP_000185
3251	123497	Disease	p.Ala50Val	VAR_006762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006762	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	27	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Ala50Val	VAR_006762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006762	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	20	COG2236	4504483,NP_000185
3251	123497	Disease	p.Ala50Val	VAR_006762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006762	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	26	COG0634	4504483,NP_000185
3251	123497	Disease	p.Arg51Gly	VAR_006764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006764	- Gout [MIM:300323]	SWISS	28	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Arg51Gly	VAR_006764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006764	- Gout [MIM:300323]	SWISS	21	COG2236	4504483,NP_000185
3251	123497	Disease	p.Arg51Gly	VAR_006764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006764	- Gout [MIM:300323]	SWISS	27	COG0634	4504483,NP_000185
3251	123497	Disease	p.Arg51Pro	VAR_006765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006765	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	28	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Arg51Pro	VAR_006765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006765	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	21	COG2236	4504483,NP_000185
3251	123497	Disease	p.Arg51Pro	VAR_006765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006765	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	27	COG0634	4504483,NP_000185
3251	123497	Disease	p.Val53Ala	VAR_006767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006767	- Gout [MIM:300323]	SWISS	34	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Val53Ala	VAR_006767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006767	- Gout [MIM:300323]	SWISS	23	COG2236	4504483,NP_000185
3251	123497	Disease	p.Val53Ala	VAR_006767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006767	- Gout [MIM:300323]	SWISS	29	COG0634	4504483,NP_000185
3251	123497	Disease	p.Val53Met	VAR_006768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006768	- Gout [MIM:300323]	SWISS	34	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Val53Met	VAR_006768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006768	- Gout [MIM:300323]	SWISS	23	COG2236	4504483,NP_000185
3251	123497	Disease	p.Val53Met	VAR_006768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006768	- Gout [MIM:300323]	SWISS	29	COG0634	4504483,NP_000185
3251	123497	Disease	p.Met54Leu	VAR_006769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006769	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	35	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Met54Leu	VAR_006769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006769	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	23_G	COG2236	4504483,NP_000185
3251	123497	Disease	p.Met54Leu	VAR_006769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006769	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	30	COG0634	4504483,NP_000185
3251	123497	Disease	p.Met57Thr	VAR_006770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006770	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	38	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Met57Thr	VAR_006770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006770	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	26	COG2236	4504483,NP_000185
3251	123497	Disease	p.Met57Thr	VAR_006770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006770	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	33	COG0634	4504483,NP_000185
3251	123497	Disease	p.Gly58Arg	VAR_006771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006771	- Gout [MIM:300323]	SWISS	39	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Gly58Arg	VAR_006771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006771	- Gout [MIM:300323]	SWISS	27	COG2236	4504483,NP_000185
3251	123497	Disease	p.Gly58Arg	VAR_006771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006771	- Gout [MIM:300323]	SWISS	34	COG0634	4504483,NP_000185
3251	123497	Disease	p.Gly70Glu	VAR_006773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006773	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	59	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Gly70Glu	VAR_006773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006773	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	39	COG2236	4504483,NP_000185
3251	123497	Disease	p.Gly70Glu	VAR_006773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006773	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	52	COG0634	4504483,NP_000185
3251	123497	Disease	p.Gly71Arg	VAR_006774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006774	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	60	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Gly71Arg	VAR_006774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006774	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	40	COG2236	4504483,NP_000185
3251	123497	Disease	p.Gly71Arg	VAR_006774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006774	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	53	COG0634	4504483,NP_000185
3251	123497	Disease	p.Phe74Leu	VAR_006775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006775	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	63	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Phe74Leu	VAR_006775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006775	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	42	COG2236	4504483,NP_000185
3251	123497	Disease	p.Phe74Leu	VAR_006775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006775	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	56	COG0634	4504483,NP_000185
3251	123497	Disease	p.Leu78Val	VAR_006776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006776	- Gout [MIM:300323]	SWISS	67	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Leu78Val	VAR_006776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006776	- Gout [MIM:300323]	SWISS	46	COG2236	4504483,NP_000185
3251	123497	Disease	p.Leu78Val	VAR_006776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006776	- Gout [MIM:300323]	SWISS	60	COG0634	4504483,NP_000185
3251	123497	Disease	p.Asp80Val	VAR_006777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006777	- Gout [MIM:300323]	SWISS	71	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Asp80Val	VAR_006777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006777	- Gout [MIM:300323]	SWISS	48	COG2236	4504483,NP_000185
3251	123497	Disease	p.Asp80Val	VAR_006777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006777	- Gout [MIM:300323]	SWISS	62	COG0634	4504483,NP_000185
3251	123497	Disease	p.Ser104Arg	VAR_006778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006778	- Gout [MIM:300323]	SWISS	116	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Ser104Arg	VAR_006778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006778	- Gout [MIM:300323]	SWISS	68	COG2236	4504483,NP_000185
3251	123497	Disease	p.Ser104Arg	VAR_006778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006778	- Gout [MIM:300323]	SWISS	80	COG0634	4504483,NP_000185
3251	123497	Disease	p.Ser110Leu	VAR_006779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006779	- Gout [MIM:300323]	SWISS	183	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Ser110Leu	VAR_006779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006779	- Gout [MIM:300323]	SWISS	74	COG2236	4504483,NP_000185
3251	123497	Disease	p.Ser110Leu	VAR_006779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006779	- Gout [MIM:300323]	SWISS	87	COG0634	4504483,NP_000185
3251	123497	Disease	p.Val130Asp	VAR_006780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006780	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	203	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Val130Asp	VAR_006780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006780	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	109	COG2236	4504483,NP_000185
3251	123497	Disease	p.Val130Asp	VAR_006780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006780	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	106	COG0634	4504483,NP_000185
3251	123497	Disease	p.Leu131Ser	VAR_006781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006781	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	204	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Leu131Ser	VAR_006781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006781	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	110	COG2236	4504483,NP_000185
3251	123497	Disease	p.Leu131Ser	VAR_006781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006781	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	107	COG0634	4504483,NP_000185
3251	123497	Disease	p.Ile132Met	VAR_006782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006782	- Gout [MIM:300323]	SWISS	205	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Ile132Met	VAR_006782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006782	- Gout [MIM:300323]	SWISS	111	COG2236	4504483,NP_000185
3251	123497	Disease	p.Ile132Met	VAR_006782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006782	- Gout [MIM:300323]	SWISS	108	COG0634	4504483,NP_000185
3251	123497	Disease	p.Ile132Thr	VAR_006783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006783	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	205	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Ile132Thr	VAR_006783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006783	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	111	COG2236	4504483,NP_000185
3251	123497	Disease	p.Ile132Thr	VAR_006783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006783	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	108	COG0634	4504483,NP_000185
3251	123497	Disease	p.Asp135Gly	VAR_006784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006784	- Gout [MIM:300323]	SWISS	209	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Asp135Gly	VAR_006784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006784	- Gout [MIM:300323]	SWISS	114	COG2236	4504483,NP_000185
3251	123497	Disease	p.Asp135Gly	VAR_006784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006784	- Gout [MIM:300323]	SWISS	111	COG0634	4504483,NP_000185
3251	123497	Disease	p.Met143Lys	VAR_006785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006785	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	217	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Met143Lys	VAR_006785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006785	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	122	COG2236	4504483,NP_000185
3251	123497	Disease	p.Met143Lys	VAR_006785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006785	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	119	COG0634	4504483,NP_000185
3251	123497	Disease	p.Ala161Ser	VAR_006787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006787	- Gout [MIM:300323]	SWISS	248	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Ala161Ser	VAR_006787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006787	- Gout [MIM:300323]	SWISS	142	COG2236	4504483,NP_000185
3251	123497	Disease	p.Ala161Ser	VAR_006787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006787	- Gout [MIM:300323]	SWISS	138	COG0634	4504483,NP_000185
3251	123497	Disease	p.Ser162Arg	VAR_006788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006788	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	249	pfam00156	4504483,NP_000185
3251	123497	Disease	p.Ser162Arg	VAR_006788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006788	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	143	COG2236	4504483,NP_000185
3251	123497	Disease	p.Ser162Arg	VAR_006788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006788	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	139	COG0634	4504483,NP_000185
3251	123497	Disease	p.Thr168Ile	VAR_006789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006789	- Gout [MIM:300323]	SWISS	149	COG2236	4504483,NP_000185
3251	123497	Disease	p.Thr168Ile	VAR_006789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006789	- Gout [MIM:300323]	SWISS	145	COG0634	4504483,NP_000185
3251	123497	Disease	p.Pro176Leu	VAR_006790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006790	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	185	COG2236	4504483,NP_000185
3251	123497	Disease	p.Pro176Leu	VAR_006790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006790	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	155	COG0634	4504483,NP_000185
3251	123497	Disease	p.Asp177Val	VAR_006791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006791	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	186	COG2236	4504483,NP_000185
3251	123497	Disease	p.Asp177Val	VAR_006791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006791	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	156	COG0634	4504483,NP_000185
3251	123497	Disease	p.Asp177Tyr	VAR_006792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006792	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	186	COG2236	4504483,NP_000185
3251	123497	Disease	p.Asp177Tyr	VAR_006792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006792	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	156	COG0634	4504483,NP_000185
3251	123497	Disease	p.Ile183Thr	VAR_006796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006796	- Gout [MIM:300323]	SWISS	203	COG2236	4504483,NP_000185
3251	123497	Disease	p.Ile183Thr	VAR_006796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006796	- Gout [MIM:300323]	SWISS	162	COG0634	4504483,NP_000185
3251	123497	Disease	p.Asp194Glu	VAR_006797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006797	- Gout [MIM:300323]	SWISS	214	COG2236	4504483,NP_000185
3251	123497	Disease	p.Asp194Glu	VAR_006797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006797	- Gout [MIM:300323]	SWISS	174	COG0634	4504483,NP_000185
3251	123497	Disease	p.Asp194Asn	VAR_006798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006798	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	214	COG2236	4504483,NP_000185
3251	123497	Disease	p.Asp194Asn	VAR_006798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006798	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	174	COG0634	4504483,NP_000185
3251	123497	Disease	p.Tyr195Cys	VAR_006799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006799	- Gout [MIM:300323]	SWISS	222	COG2236	4504483,NP_000185
3251	123497	Disease	p.Tyr195Cys	VAR_006799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006799	- Gout [MIM:300323]	SWISS	175	COG0634	4504483,NP_000185
3251	123497	Disease	p.Phe199Val	VAR_006800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006800	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	226	COG2236	4504483,NP_000185
3251	123497	Disease	p.Phe199Val	VAR_006800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006800	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	179	COG0634	4504483,NP_000185
3251	123497	Disease	p.Asp201Gly	VAR_006801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006801	- Gout [MIM:300323]	SWISS	228	COG2236	4504483,NP_000185
3251	123497	Disease	p.Asp201Gly	VAR_006801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006801	- Gout [MIM:300323]	SWISS	181	COG0634	4504483,NP_000185
3251	123497	Disease	p.Asp201Asn	VAR_006802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006802	- Gout [MIM:300323]	SWISS	228	COG2236	4504483,NP_000185
3251	123497	Disease	p.Asp201Asn	VAR_006802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006802	- Gout [MIM:300323]	SWISS	181	COG0634	4504483,NP_000185
3251	123497	Disease	p.Asp201Tyr	VAR_006803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006803	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	228	COG2236	4504483,NP_000185
3251	123497	Disease	p.Asp201Tyr	VAR_006803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006803	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	181	COG0634	4504483,NP_000185
3251	123497	Disease	p.His204Asp	VAR_006804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006804	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	231	COG2236	4504483,NP_000185
3251	123497	Disease	p.His204Asp	VAR_006804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006804	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	184	COG0634	4504483,NP_000185
3251	123497	Disease	p.His204Arg	VAR_006805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006805	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	231	COG2236	4504483,NP_000185
3251	123497	Disease	p.His204Arg	VAR_006805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006805	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	184	COG0634	4504483,NP_000185
3251	123497	Disease	p.Cys206Tyr	VAR_006806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006806	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	233	COG2236	4504483,NP_000185
3251	123497	Disease	p.Cys206Tyr	VAR_006806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006806	- Lesch-Nyhan syndrome (LNS) [MIM:300322]	SWISS	186	COG0634	4504483,NP_000185
84343	20532121	Disease	p.Arg397Trp	VAR_013251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013251	- Hermansky-Pudlak syndrome type 3 (HPS3) [MIM:203300]	SWISS	No Domain	N/A	19923642,NP_115759
11234	29429222	Disease	p.Leu624Arg	VAR_062285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062285	- Hermansky-Pudlak syndrome type 5 (HPS5) [MIM:203300]	SWISS	No Domain	N/A	31657123,NP_852608
11234	29429222	Disease	p.Thr1098Ile	VAR_062286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062286	- Hermansky-Pudlak syndrome type 5 (HPS5) [MIM:203300]	SWISS	No Domain	N/A	31657123,NP_852608
55806	115502396	Disease	p.Asp1012Asn	VAR_016222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016222	- Alopecia universalis congenita (ALUNC) [MIM:203655]	SWISS	98	smart00558	22547204,NP_005135
55806	115502396	Disease	p.Thr1022Ala	VAR_005266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005266	rs7014851 Alopecia universalis congenita (ALUNC) [MIM:203655]	SWISS	No Domain	N/A	22547204,NP_005135
55806	115502396	Disease	p.Val1136Asp	VAR_005267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005267	- Alopecia universalis congenita (ALUNC) [MIM:203655]	SWISS	130	pfam02373	22547204,NP_005135
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	7	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	5	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	5	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	11	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	15	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	11	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	11	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	11	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	12	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	14	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	12	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	12	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	13	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	16	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	14	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	14	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	35	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	10	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	10	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	10	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	10	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	10	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	10	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	10	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	10	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	10	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	10	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	10	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	10	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	10	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	10	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	10	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	4	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	11	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	11	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	12	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	11	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	8	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	8	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	8	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	8	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	13	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	8	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	9	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	8	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ala	VAR_026106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026106	- Costello syndrome [MIM:218040]	SWISS	8	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	7	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	5	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	5	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	11	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	15	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	11	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	11	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	11	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	12	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	14	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	12	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	12	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	13	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	16	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	14	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	14	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	35	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	10	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	10	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	10	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	10	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	10	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	10	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	10	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	10	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	10	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	10	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	10	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	10	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	10	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	10	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	10	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	4	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	11	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	11	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	12	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	11	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	8	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	8	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	8	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	8	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	13	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	8	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	9	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	8	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Cys	VAR_045975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045975	- Costello syndrome [MIM:218040]	SWISS	8	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	7	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	5	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	5	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	11	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	15	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	11	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	11	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	11	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	12	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	14	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	12	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	12	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	13	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	16	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	14	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	14	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	35	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	10	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	10	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	10	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	10	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	10	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	10	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	10	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	10	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	10	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	10	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	10	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	10	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	10	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	10	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	10	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	4	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	11	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	11	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	12	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	11	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	8	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	8	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	8	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	8	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	13	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	8	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	9	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	8	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Glu	VAR_045976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045976	- Costello syndrome [MIM:218040]	SWISS	8	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	7	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	5	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	5	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	11	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	15	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	11	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	11	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	11	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	12	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	14	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	12	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	12	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	13	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	16	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	14	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	14	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	35	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	4	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	11	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	11	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	12	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	11	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	8	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	8	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	8	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	8	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	13	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	8	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	8	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	8	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	7	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	5	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	5	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	11	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	15	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	11	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	11	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	11	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	12	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	14	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	12	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	12	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	13	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	16	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	14	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	14	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	35	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	10	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	10	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	10	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	10	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	10	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	10	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	10	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	10	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	10	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	10	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	10	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	10	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	10	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	10	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	10	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	4	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	11	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	11	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	12	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	11	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	8	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	8	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	8	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	8	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	13	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	8	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	9	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	8	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Ser	VAR_006837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006837	- Costello syndrome [MIM:218040]	SWISS	8	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	7	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	5	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	5	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	11	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	15	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	11	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	11	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	11	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	12	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	14	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	12	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	12	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	13	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	16	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	14	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	14	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	35	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	10	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	4	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	11	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	11	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	12	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	11	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	8	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	8	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	8	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	8	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	13	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	8	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	9	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	8	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	8	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	7	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	5	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	5	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	11	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	15	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	11	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	11	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	11	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	12	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	14	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	12	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	12	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	13	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	16	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	14	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	14	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	35	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	10	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	10	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	10	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	10	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	10	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	10	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	10	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	10	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	10	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	10	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	10	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	10	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	10	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	10	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	10	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	4	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	11	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	11	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	12	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	11	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	8	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	8	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	8	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	8	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	13	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	8	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	9	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	8	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly12Val	VAR_006836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006836	- Costello syndrome [MIM:218040]	SWISS	8	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	8	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	6	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	6	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	12	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	16	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	12	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	12	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	12	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	13	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	15	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	13	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	13	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	14	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	17	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	15	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	15	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	36	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	11	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	11	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	11	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	11	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	11	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	11	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	11	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	11	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	11	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	11	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	11	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	11	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	11	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	11	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	11	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	5	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	12	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	12	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	13	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	12	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	9	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	9	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	9	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	9	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	14	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	9	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	10	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	9	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Cys	VAR_026107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026107	- Costello syndrome [MIM:218040]	SWISS	9	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	8	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	6	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	6	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	12	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	16	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	12	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	12	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	12	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	13	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	15	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	13	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	13	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	14	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	17	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	15	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	15	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	36	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	11	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	11	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	11	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	11	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	11	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	11	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	11	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	11	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	11	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	11	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	11	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	11	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	11	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	11	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	11	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	5	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	12	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	12	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	13	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	12	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	9	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	9	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	9	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	9	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	14	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	9	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	10	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	9	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gly13Asp	VAR_026108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026108	- Costello syndrome [MIM:218040]	SWISS	9	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	17	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	15	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	15	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	21	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	25	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	21	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	21	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	21	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	22	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	24	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	22	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	18	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	22	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	23	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	26	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	24	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	24	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	45	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	20	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	20	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	20	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	20	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	20	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	20	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	20	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	20	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	20	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	20	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	20	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	20	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	20	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	20	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	20	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	14	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	33	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	21	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	22	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	21	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	18	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	18	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	18	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	18	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	23	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	18	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	19	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	18	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Gln22Lys	VAR_045977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045977	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	18	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	84	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	122	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	304	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	58	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	56	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	58	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	57	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	58	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	86	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	62	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	82	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	57	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	59	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	58	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	77	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	56	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	78	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	127	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	57	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	143	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	63	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	56	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	191	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	81	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	55	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	114	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	66	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	55	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	59	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	58	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	54	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	106	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	61	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	56	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	60	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	63	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	66	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	60	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	57	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	62	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	56	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	58	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	60	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	63	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	60	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	99	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	170	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	56	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	62	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	56	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	58	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	56	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	56	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	56	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	57	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	56	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	57	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	56	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	101	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	56	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	56	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	56	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	51	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	74	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	57	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	59	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	57	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	55	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	54	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	70	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	100	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	70	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	56	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	58	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	58	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	79	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Thr58Ile	VAR_045978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045978	- Costello syndrome [MIM:218040]	SWISS	119	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	89	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	127	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	309	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	63	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	61	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	63	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	62	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	63	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	93	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	67	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	87	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	62	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	64	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	63	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	82	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	61	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	83	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	132	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	62	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	148	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	68	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	61	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	210	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	87	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	60	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	123	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	71	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	86	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	64	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	63	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	60	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	111	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	66	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	61	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	65	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	68	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	71	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	65	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	62	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	67	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	61	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	63	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	65	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	68	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	65	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	104	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	175	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	61	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	67	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	61	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	63	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	61	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	61	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	61	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	62	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	61	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	62	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	61	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	106	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	61	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	61	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	61	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	56	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	79	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	62	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	64	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	62	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	60	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	59	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	75	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	113	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	75	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	61	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	63	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	63	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	89	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Glu63Lys	VAR_045980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045980	- Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]	SWISS	124	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	142	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	309	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	516	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	116	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	126	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	129	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	129	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	120	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	207	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	119	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	203	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	114	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	118	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	116	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	156	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	145	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	141	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	230	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	114	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	203	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	125	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	115	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	314	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	151	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	114	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	192	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	131	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	139	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	118	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	115	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	111	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	164	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	123	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	114	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	118	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	124	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	125	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	119	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	119	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	131	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	114	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	116	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	119	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	121	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	118	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	275	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	300	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	115	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	121	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	115	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	116	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	114	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	114	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	114	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	115	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	115	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	118	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	114	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	162	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	120	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	120	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	115	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	108	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	137	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	116	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	117	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	116	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	114	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	147	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	139	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	178	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	129	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	114	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	167	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	139	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	147	pfam08477	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Lys117Arg	VAR_045981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045981	- Costello syndrome [MIM:218040]	SWISS	187	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	221	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	375	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	636	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	216	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	157	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	160	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	162	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	165	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	246	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	150	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	233	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	141	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	148	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	146	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	213	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	179	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	172	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	302	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	148	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	234	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	159	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	147	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	398	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	188	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	157	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	251	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	171	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	183	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	157	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	145	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	144	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	196	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	155	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	145	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	206	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	161	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	156	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	149	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	172	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	161	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	145	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	159	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	149	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	152	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	161	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	333	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	373	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	146	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	163	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	146	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	157	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	157	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	157	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	157	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	145	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	146	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	149	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	158	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	240	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	153	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	152	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	158	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	136	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	192	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	146	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	148	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	146	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	149	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	177	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	210	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	209	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	159	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	178	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	222	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	176	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Thr	VAR_045982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045982	- Costello syndrome [MIM:218040]	SWISS	282	cd00878	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	221	smart00174	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	375	cd00880	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	636	cd00882	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	216	cd04132	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	157	cd04142	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	160	cd04109	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	162	cd04143	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	165	cd04115	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	246	cd04119	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	150	cd04110	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	233	cd04148	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	141	cd04124	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	148	cd01869	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	146	cd04122	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	213	smart00175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	179	smart00173	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	172	cd04139	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	302	cd00157	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	148	cd04118	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	234	cd04112	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	159	cd04111	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	147	cd04108	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	398	cd00154	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	188	cd04125	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	157	cd04135	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	251	cd04107	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	171	cd01863	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	183	cd04130	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	157	cd01861	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	145	cd04106	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	144	cd04103	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	196	cd01864	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	155	cd04116	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	145	cd04117	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	206	cd04113	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	161	cd01868	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	156	cd04123	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	149	cd04101	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	172	cd01862	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	161	cd00877	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	145	cd04120	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	159	cd01875	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	149	cd01866	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	152	cd04114	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	161	cd04172	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	333	smart00010	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	373	COG1100	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	146	cd04177	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	163	cd04137	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	146	cd04175	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	157	cd04133	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	157	cd01874	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	157	cd01871	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	157	cd04131	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	145	cd01865	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	146	cd04138	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	149	cd04140	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	158	cd01870	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	240	cd01860	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	153	cd04136	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	152	cd04176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	158	cd04129	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	136	smart00176	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	192	cd01873	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	146	cd04141	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	148	cd01867	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	146	cd04145	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	149	cd04147	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	177	cd04144	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	210	pfam00071	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	209	cd04146	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	159	cd04127	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	178	cd04134	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	222	cd00876	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	176	cd01893	4885425,NP_005334|194363762,NP_001123914
3265	131869	Disease	p.Ala146Val	VAR_045983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045983	- Costello syndrome [MIM:218040]	SWISS	282	cd00878	4885425,NP_005334|194363762,NP_001123914
3273	123523	Disease	p.Gly103Glu	VAR_063000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063000	- Thrombophilia due to histidine-rich glycoprotein deficiency (THR-HRG) [MIM:613116]	SWISS	159	smart00043	4504489,NP_000403
3273	123523	Disease	p.Gly103Glu	VAR_063000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063000	- Thrombophilia due to histidine-rich glycoprotein deficiency (THR-HRG) [MIM:613116]	SWISS	98	pfam00031	4504489,NP_000403
3273	123523	Disease	p.Gly103Glu	VAR_063000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063000	- Thrombophilia due to histidine-rich glycoprotein deficiency (THR-HRG) [MIM:613116]	SWISS	107	cd00042	4504489,NP_000403
3273	123523	Disease	p.Cys241Arg	VAR_063001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063001	- Thrombophilia due to histidine-rich glycoprotein deficiency (THR-HRG) [MIM:613116]	SWISS	185	smart00043	4504489,NP_000403
3291	30316367	Disease	p.Leu179Arg	VAR_015635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015635	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	118	COG4221	119392083,NP_000187
3291	30316367	Disease	p.Leu179Arg	VAR_015635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015635	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	107	COG0300	119392083,NP_000187
3291	30316367	Disease	p.Leu179Arg	VAR_015635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015635	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	135	pfam00106	119392083,NP_000187
3291	30316367	Disease	p.Leu179Arg	VAR_015635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015635	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	94	COG3967	119392083,NP_000187
3291	30316367	Disease	p.Leu179Arg	VAR_015635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015635	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	225	COG1028	119392083,NP_000187
3291	30316367	Disease	p.Ser180Phe	VAR_015636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015636	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	119	COG4221	119392083,NP_000187
3291	30316367	Disease	p.Ser180Phe	VAR_015636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015636	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	108	COG0300	119392083,NP_000187
3291	30316367	Disease	p.Ser180Phe	VAR_015636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015636	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	136	pfam00106	119392083,NP_000187
3291	30316367	Disease	p.Ser180Phe	VAR_015636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015636	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	95	COG3967	119392083,NP_000187
3291	30316367	Disease	p.Ser180Phe	VAR_015636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015636	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	226	COG1028	119392083,NP_000187
3291	30316367	Disease	p.Arg186Cys	VAR_015637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015637	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	125	COG4221	119392083,NP_000187
3291	30316367	Disease	p.Arg186Cys	VAR_015637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015637	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	114	COG0300	119392083,NP_000187
3291	30316367	Disease	p.Arg186Cys	VAR_015637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015637	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	147	pfam00106	119392083,NP_000187
3291	30316367	Disease	p.Arg186Cys	VAR_015637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015637	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	103	COG3967	119392083,NP_000187
3291	30316367	Disease	p.Arg186Cys	VAR_015637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015637	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	255	COG1028	119392083,NP_000187
3291	30316367	Disease	p.Arg208Cys	VAR_006958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006958	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	147	COG4221	119392083,NP_000187
3291	30316367	Disease	p.Arg208Cys	VAR_006958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006958	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	136	COG0300	119392083,NP_000187
3291	30316367	Disease	p.Arg208Cys	VAR_006958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006958	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	177	pfam00106	119392083,NP_000187
3291	30316367	Disease	p.Arg208Cys	VAR_006958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006958	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	128	COG3967	119392083,NP_000187
3291	30316367	Disease	p.Arg208Cys	VAR_006958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006958	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	303	COG1028	119392083,NP_000187
3291	30316367	Disease	p.Arg208His	VAR_015638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015638	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	147	COG4221	119392083,NP_000187
3291	30316367	Disease	p.Arg208His	VAR_015638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015638	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	136	COG0300	119392083,NP_000187
3291	30316367	Disease	p.Arg208His	VAR_015638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015638	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	177	pfam00106	119392083,NP_000187
3291	30316367	Disease	p.Arg208His	VAR_015638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015638	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	128	COG3967	119392083,NP_000187
3291	30316367	Disease	p.Arg208His	VAR_015638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015638	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	303	COG1028	119392083,NP_000187
3291	30316367	Disease	p.Arg213Cys	VAR_006959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006959	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	154	COG4221	119392083,NP_000187
3291	30316367	Disease	p.Arg213Cys	VAR_006959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006959	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	154	COG0300	119392083,NP_000187
3291	30316367	Disease	p.Arg213Cys	VAR_006959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006959	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	187	pfam00106	119392083,NP_000187
3291	30316367	Disease	p.Arg213Cys	VAR_006959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006959	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	135	COG3967	119392083,NP_000187
3291	30316367	Disease	p.Arg213Cys	VAR_006959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006959	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	388	COG1028	119392083,NP_000187
3291	30316367	Disease	p.Ala237Val	VAR_015640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015640	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	178	COG4221	119392083,NP_000187
3291	30316367	Disease	p.Ala237Val	VAR_015640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015640	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	179	COG0300	119392083,NP_000187
3291	30316367	Disease	p.Ala237Val	VAR_015640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015640	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	211	pfam00106	119392083,NP_000187
3291	30316367	Disease	p.Ala237Val	VAR_015640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015640	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	159	COG3967	119392083,NP_000187
3291	30316367	Disease	p.Ala237Val	VAR_015640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015640	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	484	COG1028	119392083,NP_000187
3291	30316367	Disease	p.Asp244Asn	VAR_015641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015641	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	185	COG4221	119392083,NP_000187
3291	30316367	Disease	p.Asp244Asn	VAR_015641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015641	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	186	COG0300	119392083,NP_000187
3291	30316367	Disease	p.Asp244Asn	VAR_015641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015641	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	218	pfam00106	119392083,NP_000187
3291	30316367	Disease	p.Asp244Asn	VAR_015641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015641	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	166	COG3967	119392083,NP_000187
3291	30316367	Disease	p.Asp244Asn	VAR_015641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015641	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	496	COG1028	119392083,NP_000187
3291	30316367	Disease	p.Leu250Arg	VAR_015642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015642	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	191	COG4221	119392083,NP_000187
3291	30316367	Disease	p.Leu250Arg	VAR_015642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015642	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	192	COG0300	119392083,NP_000187
3291	30316367	Disease	p.Leu250Arg	VAR_015642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015642	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	224	pfam00106	119392083,NP_000187
3291	30316367	Disease	p.Leu250Arg	VAR_015642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015642	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	172	COG3967	119392083,NP_000187
3291	30316367	Disease	p.Leu250Arg	VAR_015642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015642	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	504	COG1028	119392083,NP_000187
3291	30316367	Disease	p.Arg279Cys	VAR_015644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015644	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	230	COG4221	119392083,NP_000187
3291	30316367	Disease	p.Arg279Cys	VAR_015644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015644	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	234	COG0300	119392083,NP_000187
3291	30316367	Disease	p.Arg279Cys	VAR_015644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015644	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	203	COG3967	119392083,NP_000187
3291	30316367	Disease	p.Arg279Cys	VAR_015644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015644	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	570	COG1028	119392083,NP_000187
3291	30316367	Disease	p.Ala328Val	VAR_015645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015645	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	290	COG0300	119392083,NP_000187
3291	30316367	Disease	p.Arg337Cys	VAR_015646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015646	- Apparent mineralocorticoid excess (AME) [MIM:218030]	SWISS	299	COG0300	119392083,NP_000187
3028	2492759	Disease	p.Leu122Val	VAR_015987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015987	rs28935476 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]	SWISS	132	COG4221	4758504,NP_004484
3028	2492759	Disease	p.Leu122Val	VAR_015987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015987	rs28935476 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]	SWISS	262	COG1028	4758504,NP_004484
3028	2492759	Disease	p.Leu122Val	VAR_015987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015987	rs28935476 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]	SWISS	861	smart00822	4758504,NP_004484
3028	2492759	Disease	p.Leu122Val	VAR_015987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015987	rs28935476 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]	SWISS	160	pfam00106	4758504,NP_004484
3028	2492759	Disease	p.Leu122Val	VAR_015987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015987	rs28935476 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]	SWISS	173	pfam08659	4758504,NP_004484
3028	2492759	Disease	p.Leu122Val	VAR_015987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015987	rs28935476 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]	SWISS	113	COG3967	4758504,NP_004484
3028	2492759	Disease	p.Leu122Val	VAR_015987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015987	rs28935476 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]	SWISS	121	COG0300	4758504,NP_004484
3028	2492759	Disease	p.Arg130Cys	VAR_015988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015988	rs28935475 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]	SWISS	140	COG4221	4758504,NP_004484
3028	2492759	Disease	p.Arg130Cys	VAR_015988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015988	rs28935475 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]	SWISS	295	COG1028	4758504,NP_004484
3028	2492759	Disease	p.Arg130Cys	VAR_015988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015988	rs28935475 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]	SWISS	874	smart00822	4758504,NP_004484
3028	2492759	Disease	p.Arg130Cys	VAR_015988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015988	rs28935475 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]	SWISS	168	pfam00106	4758504,NP_004484
3028	2492759	Disease	p.Arg130Cys	VAR_015988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015988	rs28935475 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]	SWISS	181	pfam08659	4758504,NP_004484
3028	2492759	Disease	p.Arg130Cys	VAR_015988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015988	rs28935475 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]	SWISS	121	COG3967	4758504,NP_004484
3028	2492759	Disease	p.Arg130Cys	VAR_015988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015988	rs28935475 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]	SWISS	129	COG0300	4758504,NP_004484
3028	2492759	Disease	p.Asn247Ser	VAR_032093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032093	- 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]	SWISS	651	COG1028	4758504,NP_004484
3028	2492759	Disease	p.Asn247Ser	VAR_032093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032093	- 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]	SWISS	249	COG3967	4758504,NP_004484
3028	2492759	Disease	p.Asn247Ser	VAR_032093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032093	- 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]	SWISS	292	COG0300	4758504,NP_004484
3293	1169300	Disease	p.Ala56Thr	VAR_016067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016067	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	8	pfam00106	4557649,NP_000188
3293	1169300	Disease	p.Ala56Thr	VAR_016067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016067	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	14	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Ala56Thr	VAR_016067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016067	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	25	COG4221	4557649,NP_000188
3293	1169300	Disease	p.Ala56Thr	VAR_016067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016067	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	13	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Ala56Thr	VAR_016067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016067	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	13	COG1028	4557649,NP_000188
3293	1169300	Disease	p.Ser65Leu	VAR_016068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016068	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	17	pfam00106	4557649,NP_000188
3293	1169300	Disease	p.Ser65Leu	VAR_016068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016068	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	23	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Ser65Leu	VAR_016068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016068	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	34	COG4221	4557649,NP_000188
3293	1169300	Disease	p.Ser65Leu	VAR_016068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016068	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	22	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Ser65Leu	VAR_016068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016068	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	27	COG1028	4557649,NP_000188
3293	1169300	Disease	p.Arg80Gln	VAR_006953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006953	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	34	pfam00106	4557649,NP_000188
3293	1169300	Disease	p.Arg80Gln	VAR_006953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006953	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	38	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Arg80Gln	VAR_006953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006953	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	52	COG4221	4557649,NP_000188
3293	1169300	Disease	p.Arg80Gln	VAR_006953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006953	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	37	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Arg80Gln	VAR_006953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006953	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	50	COG1028	4557649,NP_000188
3293	1169300	Disease	p.Arg80Trp	VAR_006954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006954	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	34	pfam00106	4557649,NP_000188
3293	1169300	Disease	p.Arg80Trp	VAR_006954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006954	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	38	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Arg80Trp	VAR_006954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006954	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	52	COG4221	4557649,NP_000188
3293	1169300	Disease	p.Arg80Trp	VAR_006954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006954	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	37	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Arg80Trp	VAR_006954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006954	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	50	COG1028	4557649,NP_000188
3293	1169300	Disease	p.Asn130Ser	VAR_016069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016069	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	118	pfam00106	4557649,NP_000188
3293	1169300	Disease	p.Asn130Ser	VAR_016069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016069	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	93	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Asn130Ser	VAR_016069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016069	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	105	COG4221	4557649,NP_000188
3293	1169300	Disease	p.Asn130Ser	VAR_016069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016069	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	84	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Asn130Ser	VAR_016069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016069	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	197	COG1028	4557649,NP_000188
3293	1169300	Disease	p.Gln176Pro	VAR_016070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016070	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	178	pfam00106	4557649,NP_000188
3293	1169300	Disease	p.Gln176Pro	VAR_016070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016070	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	148	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Gln176Pro	VAR_016070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016070	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	150	COG4221	4557649,NP_000188
3293	1169300	Disease	p.Gln176Pro	VAR_016070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016070	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	131	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Gln176Pro	VAR_016070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016070	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	337	COG1028	4557649,NP_000188
3293	1169300	Disease	p.Ala203Val	VAR_006955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006955	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	211	pfam00106	4557649,NP_000188
3293	1169300	Disease	p.Ala203Val	VAR_006955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006955	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	179	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Ala203Val	VAR_006955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006955	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	178	COG4221	4557649,NP_000188
3293	1169300	Disease	p.Ala203Val	VAR_006955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006955	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	159	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Ala203Val	VAR_006955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006955	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	484	COG1028	4557649,NP_000188
3293	1169300	Disease	p.Val205Glu	VAR_016071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016071	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	213	pfam00106	4557649,NP_000188
3293	1169300	Disease	p.Val205Glu	VAR_016071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016071	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	181	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Val205Glu	VAR_016071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016071	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	180	COG4221	4557649,NP_000188
3293	1169300	Disease	p.Val205Glu	VAR_016071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016071	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	161	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Val205Glu	VAR_016071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016071	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	486	COG1028	4557649,NP_000188
3293	1169300	Disease	p.Phe208Ile	VAR_016072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016072	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	216	pfam00106	4557649,NP_000188
3293	1169300	Disease	p.Phe208Ile	VAR_016072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016072	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	184	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Phe208Ile	VAR_016072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016072	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	183	COG4221	4557649,NP_000188
3293	1169300	Disease	p.Phe208Ile	VAR_016072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016072	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	164	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Phe208Ile	VAR_016072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016072	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	494	COG1028	4557649,NP_000188
3293	1169300	Disease	p.Glu215Asp	VAR_016203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016203	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	223	pfam00106	4557649,NP_000188
3293	1169300	Disease	p.Glu215Asp	VAR_016203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016203	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	191	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Glu215Asp	VAR_016203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016203	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	190	COG4221	4557649,NP_000188
3293	1169300	Disease	p.Glu215Asp	VAR_016203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016203	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	171	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Glu215Asp	VAR_016203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016203	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	503	COG1028	4557649,NP_000188
3293	1169300	Disease	p.Ser232Leu	VAR_006956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006956	rs28939085 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	210	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Ser232Leu	VAR_006956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006956	rs28939085 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	210	COG4221	4557649,NP_000188
3293	1169300	Disease	p.Ser232Leu	VAR_006956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006956	rs28939085 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	191	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Ser232Leu	VAR_006956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006956	rs28939085 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	534	COG1028	4557649,NP_000188
3293	1169300	Disease	p.Met235Val	VAR_006957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006957	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	213	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Met235Val	VAR_006957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006957	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	227	COG4221	4557649,NP_000188
3293	1169300	Disease	p.Met235Val	VAR_006957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006957	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	194	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Met235Val	VAR_006957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006957	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	543	COG1028	4557649,NP_000188
3293	1169300	Disease	p.Cys268Tyr	VAR_016073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016073	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	268	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Cys268Tyr	VAR_016073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016073	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	230	COG3967	4557649,NP_000188
3293	1169300	Disease	p.Cys268Tyr	VAR_016073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016073	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	654	COG1028	4557649,NP_000188
3293	1169300	Disease	p.Pro282Leu	VAR_016074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016074	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	284	COG0300	4557649,NP_000188
3293	1169300	Disease	p.Pro282Leu	VAR_016074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016074	- Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]	SWISS	250	COG3967	4557649,NP_000188
3295	1706396	Disease	p.Gly16Ser	VAR_037576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037576	- D-bifunctional protein deficiency (DBPD) [MIM:261515]	SWISS	7	pfam08659	4504505,NP_000405
3295	1706396	Disease	p.Gly16Ser	VAR_037576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037576	- D-bifunctional protein deficiency (DBPD) [MIM:261515]	SWISS	24	COG4221	4504505,NP_000405
3295	1706396	Disease	p.Gly16Ser	VAR_037576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037576	- D-bifunctional protein deficiency (DBPD) [MIM:261515]	SWISS	13	COG0300	4504505,NP_000405
3295	1706396	Disease	p.Gly16Ser	VAR_037576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037576	- D-bifunctional protein deficiency (DBPD) [MIM:261515]	SWISS	7	smart00822	4504505,NP_000405
3295	1706396	Disease	p.Gly16Ser	VAR_037576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037576	- D-bifunctional protein deficiency (DBPD) [MIM:261515]	SWISS	7	pfam00106	4504505,NP_000405
3295	1706396	Disease	p.Gly16Ser	VAR_037576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037576	- D-bifunctional protein deficiency (DBPD) [MIM:261515]	SWISS	12	COG1028	4504505,NP_000405
3295	1706396	Disease	p.Gly16Ser	VAR_037576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037576	- D-bifunctional protein deficiency (DBPD) [MIM:261515]	SWISS	12	COG3967	4504505,NP_000405
3284	112770	Disease	p.Ala10Glu	VAR_010517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010517	rs28934880 Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	5	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Glu	VAR_010517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010517	rs28934880 Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	8	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Glu	VAR_010517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010517	rs28934880 Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	15	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Glu	VAR_010517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010517	rs28934880 Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	4	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Glu	VAR_010517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010517	rs28934880 Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	6	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Glu	VAR_010517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010517	rs28934880 Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	6	pfam02719	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Val	VAR_010518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010518	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	5	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Val	VAR_010518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010518	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	8	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Val	VAR_010518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010518	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	15	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Val	VAR_010518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010518	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	4	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Val	VAR_010518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010518	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	6	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala10Val	VAR_010518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010518	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	6	pfam02719	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Gly15Asp	VAR_010519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010519	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	10	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Gly15Asp	VAR_010519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010519	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	13	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Gly15Asp	VAR_010519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010519	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	24	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Gly15Asp	VAR_010519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010519	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	9	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Gly15Asp	VAR_010519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010519	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	11	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Gly15Asp	VAR_010519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010519	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	11	pfam02719	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala82Thr	VAR_010520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010520	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	85	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala82Thr	VAR_010520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010520	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	87	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala82Thr	VAR_010520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010520	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	157	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala82Thr	VAR_010520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010520	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	128	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala82Thr	VAR_010520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010520	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	107	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala82Thr	VAR_010520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010520	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	92	pfam02719	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Asn100Ser	VAR_010521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010521	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	108	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Asn100Ser	VAR_010521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010521	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	106	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Asn100Ser	VAR_010521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010521	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	179	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Asn100Ser	VAR_010521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010521	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	148	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Asn100Ser	VAR_010521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010521	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	130	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Asn100Ser	VAR_010521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010521	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	112	pfam02719	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu108Trp	VAR_010522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010522	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	116	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu108Trp	VAR_010522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010522	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	114	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu108Trp	VAR_010522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010522	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	187	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu108Trp	VAR_010522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010522	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	156	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu108Trp	VAR_010522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010522	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	142	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu108Trp	VAR_010522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010522	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	120	pfam02719	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Gly129Arg	VAR_010523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010523	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	137	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Gly129Arg	VAR_010523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010523	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	136	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Gly129Arg	VAR_010523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010523	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	217	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Gly129Arg	VAR_010523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010523	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	201	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Gly129Arg	VAR_010523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010523	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	178	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Gly129Arg	VAR_010523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010523	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	162	pfam02719	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Glu142Lys	VAR_000006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000006	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	150	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Glu142Lys	VAR_000006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000006	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	149	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Glu142Lys	VAR_000006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000006	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	261	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Glu142Lys	VAR_000006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000006	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	217	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Glu142Lys	VAR_000006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000006	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	215	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Glu142Lys	VAR_000006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000006	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	216	pfam02719	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro155Leu	VAR_010524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010524	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	165	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro155Leu	VAR_010524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010524	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	163	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro155Leu	VAR_010524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010524	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	298	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro155Leu	VAR_010524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010524	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	280	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro155Leu	VAR_010524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010524	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	233	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro155Leu	VAR_010524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010524	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	233	pfam02719	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala167Val	VAR_010525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010525	rs35486059 Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	177	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala167Val	VAR_010525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010525	rs35486059 Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	175	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala167Val	VAR_010525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010525	rs35486059 Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	310	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala167Val	VAR_010525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010525	rs35486059 Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	292	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala167Val	VAR_010525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010525	rs35486059 Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	245	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala167Val	VAR_010525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010525	rs35486059 Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	247	pfam02719	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu173Arg	VAR_010526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010526	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	183	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu173Arg	VAR_010526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010526	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	177_G	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu173Arg	VAR_010526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010526	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	320	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu173Arg	VAR_010526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010526	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	300	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu173Arg	VAR_010526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010526	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	250	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu173Arg	VAR_010526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010526	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	261	pfam02719	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro186Leu	VAR_010527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010527	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	197	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro186Leu	VAR_010527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010527	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	199	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro186Leu	VAR_010527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010527	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	333	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro186Leu	VAR_010527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010527	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	316	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro186Leu	VAR_010527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010527	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	267	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro186Leu	VAR_010527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010527	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	276	pfam02719	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu205Pro	VAR_000007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000007	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	216	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu205Pro	VAR_000007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000007	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	211_G	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu205Pro	VAR_000007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000007	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	388	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu205Pro	VAR_000007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000007	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	370	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu205Pro	VAR_000007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000007	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	300	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu205Pro	VAR_000007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000007	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	312	pfam02719	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ser213Gly	VAR_010528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010528	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	224	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ser213Gly	VAR_010528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010528	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	228	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ser213Gly	VAR_010528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010528	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	407	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ser213Gly	VAR_010528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010528	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	382	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ser213Gly	VAR_010528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010528	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	347	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ser213Gly	VAR_010528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010528	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	323	pfam02719	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Lys216Glu	VAR_010529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010529	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	228	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Lys216Glu	VAR_010529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010529	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	231	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Lys216Glu	VAR_010529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010529	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	411	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Lys216Glu	VAR_010529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010529	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	386	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Lys216Glu	VAR_010529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010529	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	350	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Lys216Glu	VAR_010529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010529	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	326	pfam02719	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222His	VAR_010530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010530	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	234	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222His	VAR_010530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010530	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	237	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222His	VAR_010530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010530	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	422	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222His	VAR_010530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010530	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	415	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222His	VAR_010530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010530	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	363	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222Gln	VAR_010531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010531	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	234	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222Gln	VAR_010531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010531	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	237	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222Gln	VAR_010531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010531	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	422	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222Gln	VAR_010531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010531	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	415	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222Gln	VAR_010531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010531	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	363	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222Thr	VAR_015411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015411	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	234	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222Thr	VAR_015411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015411	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	237	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222Thr	VAR_015411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015411	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	422	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222Thr	VAR_015411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015411	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	415	pfam07993	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Pro222Thr	VAR_015411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015411	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	363	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu236Ser	VAR_010533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010533	rs35887327 Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	248	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu236Ser	VAR_010533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010533	rs35887327 Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	267	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu236Ser	VAR_010533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010533	rs35887327 Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	441	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Leu236Ser	VAR_010533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010533	rs35887327 Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	382	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala245Pro	VAR_000008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000008	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	261	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala245Pro	VAR_000008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000008	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	300	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala245Pro	VAR_000008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000008	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	461	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Ala245Pro	VAR_000008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000008	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	391	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Tyr253Asn	VAR_000009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000009	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	269	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Tyr253Asn	VAR_000009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000009	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	340	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Tyr253Asn	VAR_000009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000009	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	469	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Tyr253Asn	VAR_000009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000009	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	403	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Tyr254Asp	VAR_000010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000010	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	270	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Tyr254Asp	VAR_000010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000010	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	341	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Tyr254Asp	VAR_000010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000010	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	470	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Tyr254Asp	VAR_000010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000010	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	404	pfam01370	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Thr259Met	VAR_010534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010534	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	275	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Thr259Met	VAR_010534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010534	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	352	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Thr259Met	VAR_010534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010534	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	475	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Thr259Arg	VAR_000011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000011	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	275	pfam01073	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Thr259Arg	VAR_000011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000011	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	352	COG1087	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Thr259Arg	VAR_000011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000011	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	475	COG0451	4504509,NP_000189|260763931,NP_001159592
3284	112770	Disease	p.Gly294Val	VAR_010535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010535	- Adrenal hyperplasia type 2 (AH2) [MIM:201810]	SWISS	514	COG0451	4504509,NP_000189|260763931,NP_001159592
80270	47605550	Disease	p.Gly19Ser	VAR_054775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054775	- Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]	SWISS	10	pfam08659	19923621,NP_079469
80270	47605550	Disease	p.Gly19Ser	VAR_054775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054775	- Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]	SWISS	8	pfam02719	19923621,NP_079469
80270	47605550	Disease	p.Gly19Ser	VAR_054775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054775	- Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]	SWISS	7	pfam01073	19923621,NP_079469
80270	47605550	Disease	p.Gly19Ser	VAR_054775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054775	- Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]	SWISS	10	COG3320	19923621,NP_079469
80270	47605550	Disease	p.Gly19Ser	VAR_054775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054775	- Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]	SWISS	10	COG1088	19923621,NP_079469
80270	47605550	Disease	p.Gly19Ser	VAR_054775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054775	- Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]	SWISS	10	pfam00106	19923621,NP_079469
80270	47605550	Disease	p.Gly19Ser	VAR_054775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054775	- Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]	SWISS	21	COG0451	19923621,NP_079469
80270	47605550	Disease	p.Gly19Ser	VAR_054775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054775	- Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]	SWISS	8	pfam01370	19923621,NP_079469
80270	47605550	Disease	p.Gly19Ser	VAR_054775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054775	- Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]	SWISS	6	pfam07993	19923621,NP_079469
80270	47605550	Disease	p.Glu147Lys	VAR_054776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054776	- Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]	SWISS	147_G	pfam02719	19923621,NP_079469
80270	47605550	Disease	p.Glu147Lys	VAR_054776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054776	- Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]	SWISS	150	pfam01073	19923621,NP_079469
80270	47605550	Disease	p.Glu147Lys	VAR_054776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054776	- Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]	SWISS	161	COG3320	19923621,NP_079469
80270	47605550	Disease	p.Glu147Lys	VAR_054776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054776	- Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]	SWISS	193	COG1088	19923621,NP_079469
80270	47605550	Disease	p.Glu147Lys	VAR_054776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054776	- Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]	SWISS	261	COG0451	19923621,NP_079469
80270	47605550	Disease	p.Glu147Lys	VAR_054776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054776	- Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]	SWISS	215	pfam01370	19923621,NP_079469
80270	47605550	Disease	p.Glu147Lys	VAR_054776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054776	- Congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]	SWISS	214	pfam07993	19923621,NP_079469
3299	296434534	Disease	p.Ala19Asp	VAR_017558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017558	- Cataract zonular HSF4-related (CZ-HSF4) [MIM:116800]	SWISS	4	smart00415	100913209,NP_001035757
3299	296434534	Disease	p.Ala19Asp	VAR_017558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017558	- Cataract zonular HSF4-related (CZ-HSF4) [MIM:116800]	SWISS	12	COG5169	100913209,NP_001035757
3299	296434534	Disease	p.Arg73His	VAR_029018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029018	- Cataract zonular HSF4-related (CZ-HSF4) [MIM:116800]	SWISS	64	smart00415	100913209,NP_001035757
3299	296434534	Disease	p.Arg73His	VAR_029018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029018	- Cataract zonular HSF4-related (CZ-HSF4) [MIM:116800]	SWISS	99	pfam00447	100913209,NP_001035757
3299	296434534	Disease	p.Arg73His	VAR_029018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029018	- Cataract zonular HSF4-related (CZ-HSF4) [MIM:116800]	SWISS	68	COG5169	100913209,NP_001035757
3299	296434534	Disease	p.Ile86Val	VAR_017559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017559	- Cataract zonular HSF4-related (CZ-HSF4) [MIM:116800]	SWISS	77	smart00415	100913209,NP_001035757
3299	296434534	Disease	p.Ile86Val	VAR_017559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017559	- Cataract zonular HSF4-related (CZ-HSF4) [MIM:116800]	SWISS	176	pfam00447	100913209,NP_001035757
3299	296434534	Disease	p.Ile86Val	VAR_017559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017559	- Cataract zonular HSF4-related (CZ-HSF4) [MIM:116800]	SWISS	81	COG5169	100913209,NP_001035757
3299	296434534	Disease	p.Leu114Pro	VAR_017560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017560	- Cataract zonular HSF4-related (CZ-HSF4) [MIM:116800]	SWISS	158	smart00415	100913209,NP_001035757
3299	296434534	Disease	p.Leu114Pro	VAR_017560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017560	- Cataract zonular HSF4-related (CZ-HSF4) [MIM:116800]	SWISS	296	pfam00447	100913209,NP_001035757
3299	296434534	Disease	p.Leu114Pro	VAR_017560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017560	- Cataract zonular HSF4-related (CZ-HSF4) [MIM:116800]	SWISS	150	COG5169	100913209,NP_001035757
3299	296434534	Disease	p.Arg119Cys	VAR_017561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017561	rs28937573 Cataract Marner type (CAM) [MIM:116800]	SWISS	163	smart00415	100913209,NP_001035757
3299	296434534	Disease	p.Arg119Cys	VAR_017561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017561	rs28937573 Cataract Marner type (CAM) [MIM:116800]	SWISS	303	pfam00447	100913209,NP_001035757
3299	296434534	Disease	p.Arg119Cys	VAR_017561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017561	rs28937573 Cataract Marner type (CAM) [MIM:116800]	SWISS	155	COG5169	100913209,NP_001035757
3315	19855073	Disease	p.Arg127Trp	VAR_018506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018506	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	51	cd06526	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	VAR_018506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018506	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	44	cd06497	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	VAR_018506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018506	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	44	cd06475	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	VAR_018506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018506	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	41	cd06498	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	VAR_018506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018506	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	41	cd06478	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	VAR_018506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018506	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	54	cd06464	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	VAR_018506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018506	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	41	cd06477	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	VAR_018506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018506	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	51	pfam00011	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	VAR_018506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018506	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	65	cd00298	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	VAR_018506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018506	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	42	cd06482	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	VAR_018506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018506	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	43	cd06481	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	VAR_018506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018506	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	42	cd06476	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	VAR_018506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018506	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	39	cd06479	4504517,NP_001531
3315	19855073	Disease	p.Arg127Trp	VAR_018506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018506	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	49	cd06480	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	73	cd06526	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	52	cd06497	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	52	cd06475	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	49	cd06498	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	49	cd06478	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	137	cd06464	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	49	cd06477	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	59	pfam00011	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	148	cd00298	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	53	cd06482	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	55	cd06481	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	50	cd06476	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	47	cd06479	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	57	cd06480	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	73	cd06526	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	52	cd06497	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	52	cd06475	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	49	cd06498	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	49	cd06478	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	137	cd06464	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	49	cd06477	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	59	pfam00011	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	148	cd00298	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	53	cd06482	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	55	cd06481	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	50	cd06476	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	47	cd06479	4504517,NP_001531
3315	19855073	Disease	p.Ser135Phe	VAR_018507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018507	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	57	cd06480	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	VAR_018508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018508	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	74	cd06526	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	VAR_018508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018508	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	53	cd06497	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	VAR_018508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018508	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	53	cd06475	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	VAR_018508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018508	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	50	cd06498	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	VAR_018508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018508	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	50	cd06478	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	VAR_018508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018508	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	138	cd06464	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	VAR_018508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018508	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	50	cd06477	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	VAR_018508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018508	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	64	pfam00011	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	VAR_018508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018508	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	149	cd00298	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	VAR_018508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018508	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	54	cd06482	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	VAR_018508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018508	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	56	cd06481	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	VAR_018508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018508	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	51	cd06476	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	VAR_018508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018508	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	48	cd06479	4504517,NP_001531
3315	19855073	Disease	p.Arg136Trp	VAR_018508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018508	- Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]	SWISS	58	cd06480	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	VAR_018509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018509	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	91	cd06526	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	VAR_018509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018509	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	68	cd06497	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	VAR_018509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018509	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	68	cd06475	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	VAR_018509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018509	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	65	cd06498	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	VAR_018509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018509	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	65	cd06478	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	VAR_018509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018509	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	159	cd06464	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	VAR_018509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018509	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	65	cd06477	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	VAR_018509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018509	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	81	pfam00011	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	VAR_018509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018509	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	172	cd00298	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	VAR_018509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018509	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	69	cd06482	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	VAR_018509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018509	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	71	cd06481	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	VAR_018509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018509	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	66	cd06476	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	VAR_018509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018509	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	63	cd06479	4504517,NP_001531
3315	19855073	Disease	p.Thr151Ile	VAR_018509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018509	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	73	cd06480	4504517,NP_001531
3315	19855073	Disease	p.Pro182Leu	VAR_018510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018510	- Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]	SWISS	116	pfam00011	4504517,NP_001531
8988	6016270	Disease	p.Arg7Ser	VAR_063773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063773	- Distal hereditary motor neuronopathy type 2C (HMN2C) [MIM:613376]	SWISS	No Domain	N/A	5453688,NP_006299
26353	13431576	Disease	p.Lys141Glu	VAR_018504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018504	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	54	cd06478	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	VAR_018504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018504	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	57	cd06475	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	VAR_018504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018504	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	57	cd06497	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	VAR_018504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018504	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	68	pfam00011	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	VAR_018504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018504	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	54	cd06498	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	VAR_018504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018504	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	62	cd06480	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	VAR_018504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018504	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	142	cd06464	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	VAR_018504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018504	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	78	cd06526	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	VAR_018504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018504	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	60	cd06481	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	VAR_018504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018504	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	55	cd06476	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	VAR_018504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018504	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	52	cd06479	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	VAR_018504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018504	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	54	cd06477	7657146,NP_055180
26353	13431576	Disease	p.Lys141Glu	VAR_018504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018504	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	153	cd00298	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]	SWISS	54	cd06478	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]	SWISS	57	cd06475	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]	SWISS	57	cd06497	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]	SWISS	68	pfam00011	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]	SWISS	54	cd06498	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]	SWISS	62	cd06480	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]	SWISS	142	cd06464	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]	SWISS	78	cd06526	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]	SWISS	60	cd06481	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]	SWISS	55	cd06476	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]	SWISS	52	cd06479	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]	SWISS	54	cd06477	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]	SWISS	153	cd00298	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	54	cd06478	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	57	cd06475	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	57	cd06497	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	68	pfam00011	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	54	cd06498	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	62	cd06480	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	142	cd06464	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	78	cd06526	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	60	cd06481	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	55	cd06476	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	52	cd06479	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	54	cd06477	7657146,NP_055180
26353	13431576	Disease	p.Lys141Asn	VAR_018505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018505	- Distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]	SWISS	153	cd00298	7657146,NP_055180
3329	129379	Disease	p.Asp29Gly	VAR_054785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054785	- Leukodystrophy hypomyelinating type 4 (HLD4) [MIM:612233]	SWISS	5	COG0459	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	VAR_054785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054785	- Leukodystrophy hypomyelinating type 4 (HLD4) [MIM:612233]	SWISS	2	cd03344	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	VAR_054785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054785	- Leukodystrophy hypomyelinating type 4 (HLD4) [MIM:612233]	SWISS	2	cd03338	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	VAR_054785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054785	- Leukodystrophy hypomyelinating type 4 (HLD4) [MIM:612233]	SWISS	2	cd00309	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	VAR_054785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054785	- Leukodystrophy hypomyelinating type 4 (HLD4) [MIM:612233]	SWISS	10	cd03337	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	VAR_054785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054785	- Leukodystrophy hypomyelinating type 4 (HLD4) [MIM:612233]	SWISS	12_G	cd03343	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	VAR_054785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054785	- Leukodystrophy hypomyelinating type 4 (HLD4) [MIM:612233]	SWISS	8	cd03336	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Asp29Gly	VAR_054785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054785	- Leukodystrophy hypomyelinating type 4 (HLD4) [MIM:612233]	SWISS	7	cd03342	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val98Ile	VAR_026748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026748	- Spastic paraplegia autosomal dominant type 13 (SPG13) [MIM:605280]	SWISS	85	cd03339	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val98Ile	VAR_026748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026748	- Spastic paraplegia autosomal dominant type 13 (SPG13) [MIM:605280]	SWISS	88	COG0459	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val98Ile	VAR_026748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026748	- Spastic paraplegia autosomal dominant type 13 (SPG13) [MIM:605280]	SWISS	73	cd03344	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val98Ile	VAR_026748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026748	- Spastic paraplegia autosomal dominant type 13 (SPG13) [MIM:605280]	SWISS	67	cd03338	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val98Ile	VAR_026748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026748	- Spastic paraplegia autosomal dominant type 13 (SPG13) [MIM:605280]	SWISS	77	cd00309	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val98Ile	VAR_026748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026748	- Spastic paraplegia autosomal dominant type 13 (SPG13) [MIM:605280]	SWISS	67	pfam00118	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val98Ile	VAR_026748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026748	- Spastic paraplegia autosomal dominant type 13 (SPG13) [MIM:605280]	SWISS	75	cd03337	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val98Ile	VAR_026748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026748	- Spastic paraplegia autosomal dominant type 13 (SPG13) [MIM:605280]	SWISS	74	cd03343	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val98Ile	VAR_026748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026748	- Spastic paraplegia autosomal dominant type 13 (SPG13) [MIM:605280]	SWISS	78	cd03336	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val98Ile	VAR_026748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026748	- Spastic paraplegia autosomal dominant type 13 (SPG13) [MIM:605280]	SWISS	77	cd03340	31542947,NP_002147|41399285,NP_955472
3329	129379	Disease	p.Val98Ile	VAR_026748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026748	- Spastic paraplegia autosomal dominant type 13 (SPG13) [MIM:605280]	SWISS	73_G	cd03342	31542947,NP_002147|41399285,NP_955472
3339	218512120	Disease	p.Cys1532Tyr	VAR_014122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014122	- Schwartz-Jampel syndrome (SJS1) [MIM:255800]	SWISS	No Domain	N/A	NULL
5654	18202620	Disease	p.Ala252Thr	VAR_063148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063148	- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) [MIM:600142]	SWISS	361	COG0265	4506141,NP_002766
5654	18202620	Disease	p.Ala252Thr	VAR_063148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063148	- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) [MIM:600142]	SWISS	145	pfam00089	4506141,NP_002766
5654	18202620	Disease	p.Val297Met	VAR_063149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063149	- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) [MIM:600142]	SWISS	426	COG0265	4506141,NP_002766
5654	18202620	Disease	p.Val297Met	VAR_063149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063149	- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) [MIM:600142]	SWISS	225	pfam00089	4506141,NP_002766
27429	17376879	Disease	p.Gly399Ser	VAR_027350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027350	- Parkinson disease type 13 (PARK13) [MIM:610297]	SWISS	60	cd00136	7019477,NP_037379
27429	17376879	Disease	p.Gly399Ser	VAR_027350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027350	- Parkinson disease type 13 (PARK13) [MIM:610297]	SWISS	629	COG0265	7019477,NP_037379
27429	17376879	Disease	p.Gly399Ser	VAR_027350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027350	- Parkinson disease type 13 (PARK13) [MIM:610297]	SWISS	39	cd00988	7019477,NP_037379
27429	17376879	Disease	p.Gly399Ser	VAR_027350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027350	- Parkinson disease type 13 (PARK13) [MIM:610297]	SWISS	146	smart00228	7019477,NP_037379
27429	17376879	Disease	p.Gly399Ser	VAR_027350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027350	- Parkinson disease type 13 (PARK13) [MIM:610297]	SWISS	44	cd00987	7019477,NP_037379
27429	17376879	Disease	p.Gly399Ser	VAR_027350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027350	- Parkinson disease type 13 (PARK13) [MIM:610297]	SWISS	128	cd00992	7019477,NP_037379
27429	17376879	Disease	p.Gly399Ser	VAR_027350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027350	- Parkinson disease type 13 (PARK13) [MIM:610297]	SWISS	28	cd00989	7019477,NP_037379
3373	74735617	Disease	p.Glu268Lys	VAR_023643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023643	- Mucopolysaccharidosis type 9 (MPS9) [MIM:601492]	SWISS	259	pfam01630	24497564,NP_695013|6224976,NP_009296|24497562,NP_149349
219844	74732277	Disease	p.Asp211Gly	VAR_031867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031867	- Hydrolethalus syndrome type 1 (HLS1) [MIM:236680]	SWISS	No Domain	N/A	198278446,NP_001128265|21450731,NP_659451
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	263	cd05601	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	284	cd05630	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	315	cd06620	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	265	cd06629	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	270	cd05631	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	280	cd05616	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	253	cd05614	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	291	cd07853	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	286	cd05587	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	280	cd05615	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	286	cd07859	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	252	cd06651	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	342	cd05122	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	449	cd07834	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	325	cd07841	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	267	cd05613	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	255	cd05583	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	247	cd05605	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	426	cd07842	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	418	cd06606	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	291	cd06627	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	257	cd08221	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	245	cd08225	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	245	cd08223	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	281	cd07861	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	249	cd08222	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	255	cd06631	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	326	cd08215	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	279	cd07863	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	274	cd07839	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	253	cd08220	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	260	cd06628	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	283	cd07836	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	252	cd08530	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	271	cd05578	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	272	cd07860	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	317	cd08217	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	302	cd07832	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	256	cd06630	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	293	cd07857	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	317	cd05611	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	277	cd05584	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	253	cd08529	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	275	cd05582	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	255	cd06611	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	296	cd06626	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	329	cd06623	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	314	cd07851	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	299	cd07879	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	329	cd06605	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	346	cd05574	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	324	cd05600	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	262	cd06648	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	299	cd06614	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	271	cd05597	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	340	cd05051	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	320	cd05626	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	332	cd05598	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	1173	COG0515	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	322	cd07855	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	273	cd06618	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	264	cd06607	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	316	cd05038	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	257	cd06617	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	261	cd06657	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	285	cd05108	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	244	cd06640	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	244	cd06641	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	283	cd06609	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	244	cd06642	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	314	cd07849	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	253	cd06643	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	305	cd06634	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	266	cd06621	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	290	cd06650	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	295	cd06633	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	290	cd07837	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	297	cd05053	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	270	cd05079	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	562	cd05599	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	293	cd06615	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	268	cd06649	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	307	cd05628	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	292	cd05609	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	289	cd07878	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	264_G	cd05612	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	263	cd06658	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	310	cd05629	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	307	cd05627	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	399	cd05573	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	296	cd05625	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	272	cd06622	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	291	cd07877	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	310	cd05580	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	267	cd06612	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	298	cd06608	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	254	cd06625	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	304	cd07848	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	328	cd07843	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	283	cd07862	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	260	cd05034	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	292	cd07847	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	295	cd07846	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	518	cd05581	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	280	cd06610	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	359	cd07833	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	279	cd07856	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	314	cd07854	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	1197	smart00220	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	237	cd05593	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	238	cd05591	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	247	cd05618	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	245	cd05617	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	247	cd05588	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	286_G	cd05604	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	261	cd05042	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	238	cd05571	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	237	cd05595	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	238	cd05602	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	267	cd05590	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	249	cd05570	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	239	cd05575	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	510	cd00192	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	275	cd05594	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	289	cd05592	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	269	cd05619	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	284	cd05620	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	271	cd06632	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	307	cd05603	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	287	cd05061	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	260	cd06656	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	268	cd05080	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	318	cd05100	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	302	cd07874	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	287	cd05088	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	304	cd07845	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	256	cd06646	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	256	cd06613	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	254	cd08224	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	256	cd06645	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	260	cd06647	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	279	cd07869	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	329	cd05094	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	277	cd07873	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	309	cd07875	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	260	cd06655	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	299	cd06635	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	285	cd06639	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	261	cd06654	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	306	cd07852	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	288	cd07858	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	289	cd07880	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	252	cd08229	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	277	cd07872	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	306	cd07876	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	341	cd07866	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	305	cd07868	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	276	cd07871	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	285	cd07844	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	283	cd07870	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	342	cd07865	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	305	cd07867	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	294	cd07864	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	261	cd06624	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	309	cd07850	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	291	cd05043	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	690	smart00219	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	472	pfam07714	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	243	cd05589	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	270	cd06616	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	353	cd07829	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	408	cd07840	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	384	cd07830	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	288	cd07831	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	1071	smart00221	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	299	cd05118	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	304	cd07835	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	457	pfam00069	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	343	cd07838	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	266	cd05608	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	266	cd05586	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	270	cd05606	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	851	cd00180	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	246	cd05633	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	248	cd05577	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	269	cd05585	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	912	cd05123	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	812	cd05579	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	262	cd06659	7662388,NP_055735|27477122,NP_057597
22858	48428273	Disease	p.Arg272Gln	VAR_057994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057994	- Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]	SWISS	302	cd08216	7662388,NP_055735|27477122,NP_057597
3420	146345439	Disease	p.Leu132Pro	VAR_054851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054851	- Retinitis pigmentosa type 46 (RP46) [MIM:612572]	SWISS	104	pfam00180	28178821,NP_008830
3420	146345439	Disease	p.Leu132Pro	VAR_054851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054851	- Retinitis pigmentosa type 46 (RP46) [MIM:612572]	SWISS	105	COG0473	28178821,NP_008830
3420	146345439	Disease	p.Leu132Pro	VAR_054851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054851	- Retinitis pigmentosa type 46 (RP46) [MIM:612572]	SWISS	141	COG0538	28178821,NP_008830
3423	124174	Disease	p.Leu41Pro	VAR_026915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026915	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	23	COG3119	4557659,NP_000193
3423	124174	Disease	p.Leu41Pro	VAR_026915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026915	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	5	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Asp45Asn	VAR_007313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007313	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	27	COG3119	4557659,NP_000193
3423	124174	Disease	p.Asp45Asn	VAR_007313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007313	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	9	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Arg48Pro	VAR_007314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007314	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	30	COG3119	4557659,NP_000193
3423	124174	Disease	p.Arg48Pro	VAR_007314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007314	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	13	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Tyr54Asp	VAR_007315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007315	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	37	COG3119	4557659,NP_000193
3423	124174	Disease	p.Tyr54Asp	VAR_007315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007315	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	23	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Asn63Asp	VAR_007316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007316	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	72	COG3119	4557659,NP_000193
3423	124174	Disease	p.Asn63Asp	VAR_007316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007316	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	54	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Ala68Glu	VAR_007317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007317	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	77	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ala68Glu	VAR_007317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007317	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	68	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Ser71Asn	VAR_026916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026916	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	80	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ser71Asn	VAR_026916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026916	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	73	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Ser71Arg	VAR_008998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008998	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	80	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ser71Arg	VAR_008998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008998	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	73	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Leu73Phe	VAR_026917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026917	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	82	COG3119	4557659,NP_000193
3423	124174	Disease	p.Leu73Phe	VAR_026917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026917	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	75	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Ala79Glu	VAR_007318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007318	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	88	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ala79Glu	VAR_007318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007318	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	83	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Ala82Glu	VAR_008999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008999	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	91	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ala82Glu	VAR_008999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008999	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	86	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Ala82Val	VAR_026918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026918	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	91	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ala82Val	VAR_026918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026918	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	86	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Ala85Ser	VAR_026919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026919	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	94	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ala85Ser	VAR_026919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026919	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	89	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Ala85Thr	VAR_007319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007319	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	94	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ala85Thr	VAR_007319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007319	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	89	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Pro86Leu	VAR_007320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007320	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	95	COG3119	4557659,NP_000193
3423	124174	Disease	p.Pro86Leu	VAR_007320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007320	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	90	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Pro86Gln	VAR_007321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007321	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	95	COG3119	4557659,NP_000193
3423	124174	Disease	p.Pro86Gln	VAR_007321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007321	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	90	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Pro86Arg	VAR_007322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007322	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	95	COG3119	4557659,NP_000193
3423	124174	Disease	p.Pro86Arg	VAR_007322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007322	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	90	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Ser87Asn	VAR_007323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007323	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	96	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ser87Asn	VAR_007323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007323	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	91	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Arg88Cys	VAR_007324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007324	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	97	COG3119	4557659,NP_000193
3423	124174	Disease	p.Arg88Cys	VAR_007324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007324	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	92	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Arg88Gly	VAR_026920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026920	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	97	COG3119	4557659,NP_000193
3423	124174	Disease	p.Arg88Gly	VAR_026920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026920	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	92	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Arg88His	VAR_007325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007325	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	97	COG3119	4557659,NP_000193
3423	124174	Disease	p.Arg88His	VAR_007325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007325	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	92	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Arg88Leu	VAR_007326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007326	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	97	COG3119	4557659,NP_000193
3423	124174	Disease	p.Arg88Leu	VAR_007326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007326	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	92	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Arg88Pro	VAR_007327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007327	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	97	COG3119	4557659,NP_000193
3423	124174	Disease	p.Arg88Pro	VAR_007327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007327	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	92	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Val89Phe	VAR_026921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026921	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	98	COG3119	4557659,NP_000193
3423	124174	Disease	p.Val89Phe	VAR_026921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026921	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	93	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Leu92Pro	VAR_007328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007328	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	101	COG3119	4557659,NP_000193
3423	124174	Disease	p.Leu92Pro	VAR_007328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007328	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	96	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Gly94Asp	VAR_007329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007329	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	103	COG3119	4557659,NP_000193
3423	124174	Disease	p.Gly94Asp	VAR_007329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007329	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	98	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Arg95Gly	VAR_026922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026922	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	104	COG3119	4557659,NP_000193
3423	124174	Disease	p.Arg95Gly	VAR_026922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026922	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	99	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Arg95Thr	VAR_026923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026923	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	104	COG3119	4557659,NP_000193
3423	124174	Disease	p.Arg95Thr	VAR_026923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026923	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	99	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Leu102Arg	VAR_007330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007330	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	111	COG3119	4557659,NP_000193
3423	124174	Disease	p.Leu102Arg	VAR_007330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007330	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	106	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Tyr108Cys	VAR_007331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007331	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	129	COG3119	4557659,NP_000193
3423	124174	Disease	p.Tyr108Cys	VAR_007331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007331	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	112	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Tyr108Ser	VAR_026924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026924	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	129	COG3119	4557659,NP_000193
3423	124174	Disease	p.Tyr108Ser	VAR_026924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026924	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	112	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Asn115Tyr	VAR_007332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007332	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	136	COG3119	4557659,NP_000193
3423	124174	Disease	p.Asn115Tyr	VAR_007332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007332	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	130	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Ser117Tyr	VAR_026926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026926	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	140	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ser117Tyr	VAR_026926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026926	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	132	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Thr118Ile	VAR_007333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007333	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	141	COG3119	4557659,NP_000193
3423	124174	Disease	p.Thr118Ile	VAR_007333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007333	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	133	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Pro120His	VAR_007334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007334	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	143	COG3119	4557659,NP_000193
3423	124174	Disease	p.Pro120His	VAR_007334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007334	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	135	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Pro120Arg	VAR_007335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007335	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	143	COG3119	4557659,NP_000193
3423	124174	Disease	p.Pro120Arg	VAR_007335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007335	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	135	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Gln121His	VAR_026928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026928	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	144	COG3119	4557659,NP_000193
3423	124174	Disease	p.Gln121His	VAR_026928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026928	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	136	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Gln121Arg	VAR_026929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026929	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	144	COG3119	4557659,NP_000193
3423	124174	Disease	p.Gln121Arg	VAR_026929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026929	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	136	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Glu125Val	VAR_007336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007336	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	148	COG3119	4557659,NP_000193
3423	124174	Disease	p.Glu125Val	VAR_007336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007336	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	140	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Ser132Trp	VAR_007337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007337	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	155	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ser132Trp	VAR_007337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007337	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	148	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Gly134Arg	VAR_007338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007338	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	157	COG3119	4557659,NP_000193
3423	124174	Disease	p.Gly134Arg	VAR_007338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007338	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	150	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Lys135Asn	VAR_007339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007339	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	158	COG3119	4557659,NP_000193
3423	124174	Disease	p.Lys135Asn	VAR_007339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007339	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	151	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Lys135Arg	VAR_007340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007340	rs28937311 Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	158	COG3119	4557659,NP_000193
3423	124174	Disease	p.Lys135Arg	VAR_007340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007340	rs28937311 Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	151	pfam00884	4557659,NP_000193
3423	124174	Disease	p.His138Asp	VAR_026930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026930	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	160	COG3119	4557659,NP_000193
3423	124174	Disease	p.His138Asp	VAR_026930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026930	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	154	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Gly140Val	VAR_026931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026931	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	162	COG3119	4557659,NP_000193
3423	124174	Disease	p.Gly140Val	VAR_026931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026931	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	156	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Ser143Phe	VAR_007341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007341	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	165	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ser143Phe	VAR_007341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007341	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	159	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Asp148His	VAR_026932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026932	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	179	COG3119	4557659,NP_000193
3423	124174	Disease	p.Asp148His	VAR_026932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026932	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	189	pfam00884	4557659,NP_000193
3423	124174	Disease	p.His159Pro	VAR_007342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007342	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	206	COG3119	4557659,NP_000193
3423	124174	Disease	p.His159Pro	VAR_007342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007342	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	200	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Pro160Arg	VAR_007344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007344	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	207	COG3119	4557659,NP_000193
3423	124174	Disease	p.Pro160Arg	VAR_007344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007344	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	201	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Asn181Ile	VAR_026933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026933	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	228	COG3119	4557659,NP_000193
3423	124174	Disease	p.Asn181Ile	VAR_026933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026933	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	223	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Leu182Pro	VAR_026934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026934	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	229	COG3119	4557659,NP_000193
3423	124174	Disease	p.Leu182Pro	VAR_026934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026934	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	224	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Cys184Phe	VAR_007345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007345	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	231	COG3119	4557659,NP_000193
3423	124174	Disease	p.Cys184Phe	VAR_007345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007345	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	226	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Cys184Trp	VAR_007346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007346	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	231	COG3119	4557659,NP_000193
3423	124174	Disease	p.Cys184Trp	VAR_007346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007346	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	226	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Leu196Ser	VAR_007347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007347	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	245	COG3119	4557659,NP_000193
3423	124174	Disease	p.Leu196Ser	VAR_007347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007347	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	296	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Asp198Gly	VAR_007348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007348	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	247	COG3119	4557659,NP_000193
3423	124174	Disease	p.Asp198Gly	VAR_007348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007348	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	298	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Ala205Pro	VAR_026935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026935	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	254	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ala205Pro	VAR_026935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026935	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	305	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Leu221Pro	VAR_007349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007349	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	270	COG3119	4557659,NP_000193
3423	124174	Disease	p.Leu221Pro	VAR_007349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007349	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	324	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Gly224Glu	VAR_007350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007350	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	273	COG3119	4557659,NP_000193
3423	124174	Disease	p.Gly224Glu	VAR_007350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007350	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	327	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Tyr225Asp	VAR_007351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007351	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	274	COG3119	4557659,NP_000193
3423	124174	Disease	p.Tyr225Asp	VAR_007351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007351	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	328	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Lys227Met	VAR_026936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026936	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	276	COG3119	4557659,NP_000193
3423	124174	Disease	p.Lys227Met	VAR_026936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026936	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	330	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Lys227Gln	VAR_007352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007352	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	276	COG3119	4557659,NP_000193
3423	124174	Disease	p.Lys227Gln	VAR_007352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007352	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	330	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Pro228Leu	VAR_007353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007353	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	277	COG3119	4557659,NP_000193
3423	124174	Disease	p.Pro228Leu	VAR_007353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007353	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	331	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Pro228Thr	VAR_026937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026937	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	277	COG3119	4557659,NP_000193
3423	124174	Disease	p.Pro228Thr	VAR_026937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026937	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	331	pfam00884	4557659,NP_000193
3423	124174	Disease	p.His229Arg	VAR_026938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026938	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	278	COG3119	4557659,NP_000193
3423	124174	Disease	p.His229Arg	VAR_026938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026938	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	332	pfam00884	4557659,NP_000193
3423	124174	Disease	p.His229Tyr	VAR_007354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007354	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	278	COG3119	4557659,NP_000193
3423	124174	Disease	p.His229Tyr	VAR_007354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007354	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	332	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Pro231Leu	VAR_026939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026939	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	280	COG3119	4557659,NP_000193
3423	124174	Disease	p.Pro231Leu	VAR_026939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026939	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	345	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Asp252Asn	VAR_007355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007355	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	296	COG3119	4557659,NP_000193
3423	124174	Disease	p.Asp252Asn	VAR_007355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007355	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	378	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Leu259Pro	VAR_026940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026940	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	303	COG3119	4557659,NP_000193
3423	124174	Disease	p.Leu259Pro	VAR_026940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026940	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	411	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Tyr264Asn	VAR_009001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009001	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	308	COG3119	4557659,NP_000193
3423	124174	Disease	p.Tyr264Asn	VAR_009001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009001	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	416	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Asn265Ile	VAR_026941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026941	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	309	COG3119	4557659,NP_000193
3423	124174	Disease	p.Asn265Ile	VAR_026941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026941	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	417	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Pro266His	VAR_007356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007356	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	310	COG3119	4557659,NP_000193
3423	124174	Disease	p.Pro266His	VAR_007356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007356	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	418	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Pro266Arg	VAR_007357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007357	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	310	COG3119	4557659,NP_000193
3423	124174	Disease	p.Pro266Arg	VAR_007357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007357	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	418	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Asp269Val	VAR_007358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007358	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	313	COG3119	4557659,NP_000193
3423	124174	Disease	p.Asp269Val	VAR_007358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007358	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	421	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Gln293His	VAR_007359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007359	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	359	COG3119	4557659,NP_000193
3423	124174	Disease	p.Gln293His	VAR_007359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007359	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	437	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Ser299Ile	VAR_026942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026942	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	365	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ser299Ile	VAR_026942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026942	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	443	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Asp308Glu	VAR_026943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026943	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	374	COG3119	4557659,NP_000193
3423	124174	Disease	p.Asp308Glu	VAR_026943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026943	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	452	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Asp308Asn	VAR_026944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026944	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	374	COG3119	4557659,NP_000193
3423	124174	Disease	p.Asp308Asn	VAR_026944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026944	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	452	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Thr309Ala	VAR_026945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026945	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	375	COG3119	4557659,NP_000193
3423	124174	Disease	p.Thr309Ala	VAR_026945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026945	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	453	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Arg313Cys	VAR_026946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026946	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	379	COG3119	4557659,NP_000193
3423	124174	Disease	p.Arg313Cys	VAR_026946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026946	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	457	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Leu314Pro	VAR_026947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026947	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	380	COG3119	4557659,NP_000193
3423	124174	Disease	p.Leu314Pro	VAR_026947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026947	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	458	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Ser333Leu	VAR_007360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007360	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	403	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ser333Leu	VAR_007360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007360	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	478	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Asp334Gly	VAR_009002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009002	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	404	COG3119	4557659,NP_000193
3423	124174	Disease	p.Asp334Gly	VAR_009002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009002	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	479	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Asp334Asn	VAR_026948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026948	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	404	COG3119	4557659,NP_000193
3423	124174	Disease	p.Asp334Asn	VAR_026948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026948	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	479	pfam00884	4557659,NP_000193
3423	124174	Disease	p.His335Arg	VAR_026949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026949	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	405	COG3119	4557659,NP_000193
3423	124174	Disease	p.His335Arg	VAR_026949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026949	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	480	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Gly336Glu	VAR_026950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026950	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	406	COG3119	4557659,NP_000193
3423	124174	Disease	p.Gly336Glu	VAR_026950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026950	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	481	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Gly336Arg	VAR_026951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026951	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	406	COG3119	4557659,NP_000193
3423	124174	Disease	p.Gly336Arg	VAR_026951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026951	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	481	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Trp337Arg	VAR_007361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007361	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	461	COG3119	4557659,NP_000193
3423	124174	Disease	p.Trp337Arg	VAR_007361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007361	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	482	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Leu339Arg	VAR_026952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026952	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	463	COG3119	4557659,NP_000193
3423	124174	Disease	p.Leu339Arg	VAR_026952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026952	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	484	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Gly340Asp	VAR_007362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007362	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	464	COG3119	4557659,NP_000193
3423	124174	Disease	p.Gly340Asp	VAR_007362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007362	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	485	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Glu341Lys	VAR_008134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008134	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	465	COG3119	4557659,NP_000193
3423	124174	Disease	p.Glu341Lys	VAR_008134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008134	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	486	pfam00884	4557659,NP_000193
3423	124174	Disease	p.His342Tyr	VAR_008135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008135	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	466	COG3119	4557659,NP_000193
3423	124174	Disease	p.His342Tyr	VAR_008135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008135	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	487	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Trp345Cys	VAR_007363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007363	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	469	COG3119	4557659,NP_000193
3423	124174	Disease	p.Trp345Cys	VAR_007363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007363	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	544	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Ala346Asp	VAR_007364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007364	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	470	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ala346Asp	VAR_007364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007364	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	545	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Ala346Val	VAR_007365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007365	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	470	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ala346Val	VAR_007365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007365	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	545	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Lys347Ile	VAR_007366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007366	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	471	COG3119	4557659,NP_000193
3423	124174	Disease	p.Lys347Ile	VAR_007366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007366	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	546	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Lys347Gln	VAR_026953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026953	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	471	COG3119	4557659,NP_000193
3423	124174	Disease	p.Lys347Gln	VAR_026953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026953	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	546	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Lys347Thr	VAR_007367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007367	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	471	COG3119	4557659,NP_000193
3423	124174	Disease	p.Lys347Thr	VAR_007367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007367	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	546	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Tyr348His	VAR_007368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007368	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	472	COG3119	4557659,NP_000193
3423	124174	Disease	p.Tyr348His	VAR_007368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007368	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	547	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Ser349Ile	VAR_007369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007369	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	474	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ser349Ile	VAR_007369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007369	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	549	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Pro358Arg	VAR_007370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007370	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	483	COG3119	4557659,NP_000193
3423	124174	Disease	p.Pro358Arg	VAR_007370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007370	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	558	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Leu403Arg	VAR_007371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007371	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	545	COG3119	4557659,NP_000193
3423	124174	Disease	p.Leu403Arg	VAR_007371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007371	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	809	pfam00884	4557659,NP_000193
3423	124174	Disease	p.Leu410Pro	VAR_026954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026954	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	552	COG3119	4557659,NP_000193
3423	124174	Disease	p.Cys422Gly	VAR_007372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007372	rs28937310 Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	564	COG3119	4557659,NP_000193
3423	124174	Disease	p.Cys422Arg	VAR_026955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026955	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	564	COG3119	4557659,NP_000193
3423	124174	Disease	p.Cys432Tyr	VAR_007373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007373	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	574	COG3119	4557659,NP_000193
3423	124174	Disease	p.Glu434Lys	VAR_007374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007374	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	576	COG3119	4557659,NP_000193
3423	124174	Disease	p.Gln465Pro	VAR_009003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009003	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	629	COG3119	4557659,NP_000193
3423	124174	Disease	p.Pro467Leu	VAR_026956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026956	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	634	COG3119	4557659,NP_000193
3423	124174	Disease	p.Arg468Gly	VAR_007375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007375	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	635	COG3119	4557659,NP_000193
3423	124174	Disease	p.Arg468Leu	VAR_007376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007376	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	635	COG3119	4557659,NP_000193
3423	124174	Disease	p.Arg468Gln	VAR_007377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007377	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	635	COG3119	4557659,NP_000193
3423	124174	Disease	p.Arg468Trp	VAR_007378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007378	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	635	COG3119	4557659,NP_000193
3423	124174	Disease	p.Pro469His	VAR_007379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007379	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	636	COG3119	4557659,NP_000193
3423	124174	Disease	p.Asp478Gly	VAR_007380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007380	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	645	COG3119	4557659,NP_000193
3423	124174	Disease	p.Asp478Tyr	VAR_007381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007381	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	645	COG3119	4557659,NP_000193
3423	124174	Disease	p.Pro480Leu	VAR_026957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026957	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	677	COG3119	4557659,NP_000193
3423	124174	Disease	p.Pro480Gln	VAR_026958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026958	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	677	COG3119	4557659,NP_000193
3423	124174	Disease	p.Pro480Arg	VAR_026959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026959	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	677	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ile485Lys	VAR_007382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007382	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	682	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ile485Arg	VAR_007383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007383	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	682	COG3119	4557659,NP_000193
3423	124174	Disease	p.Tyr490Ser	VAR_026961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026961	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	687	COG3119	4557659,NP_000193
3423	124174	Disease	p.Ser491Phe	VAR_008136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008136	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	688	COG3119	4557659,NP_000193
3423	124174	Disease	p.Trp502Cys	VAR_007384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007384	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	No Domain	N/A	4557659,NP_000193
3423	124174	Disease	p.Trp502Ser	VAR_007385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007385	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	No Domain	N/A	4557659,NP_000193
3423	124174	Disease	p.Glu521Lys	VAR_026962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026962	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	No Domain	N/A	4557659,NP_000193
3423	124174	Disease	p.Glu521Val	VAR_007386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007386	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	No Domain	N/A	4557659,NP_000193
3423	124174	Disease	p.Tyr523Cys	VAR_007387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007387	- Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]	SWISS	No Domain	N/A	4557659,NP_000193
3425	92090608	Disease	p.Gly51Asp	VAR_003351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003351	- Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]	SWISS	29	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Ala75Thr	VAR_003352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003352	- Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]	SWISS	53	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Ala79Val	VAR_020975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020975	- Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]	SWISS	57	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.His82Pro	VAR_003353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003353	- Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]	SWISS	60	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Arg89Gln	VAR_003354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003354	- Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]	SWISS	67	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Arg89Trp	VAR_003355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003355	- Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]	SWISS	67	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Met133Ile	VAR_020977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020977	- Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]	SWISS	120	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Glu182Lys	VAR_020978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020978	- Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]	SWISS	175	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Gly208Asp	VAR_020979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020979	- Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]	SWISS	201	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Leu218Pro	VAR_003358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003358	- Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]	SWISS	211	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Leu238Gln	VAR_020980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020980	- Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]	SWISS	231	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Ser260Phe	VAR_020981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020981	- Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]	SWISS	253	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Ala327Pro	VAR_003361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003361	- Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]	SWISS	321	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Ala327Pro	VAR_003361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003361	- Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]	SWISS	321	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Leu346Arg	VAR_017436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017436	- Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]	SWISS	340	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Asp349Asn	VAR_003362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003362	- Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]	SWISS	343	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Asp349Tyr	VAR_020982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020982	- Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]	SWISS	343	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Asn350Ile	VAR_020983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020983	- Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]	SWISS	344	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Arg363Cys	VAR_020984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020984	- Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]	SWISS	357	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Thr366Pro	VAR_003365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003365	- Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]	SWISS	360	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Gln380Arg	VAR_003366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003366	- Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]	SWISS	374	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Arg383His	VAR_003367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003367	- Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]	SWISS	377	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Thr388Arg	VAR_003368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003368	- Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]	SWISS	382	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Gly409Arg	VAR_003370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003370	rs11934801 Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]	SWISS	403	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Ser423Arg	VAR_020985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020985	- Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]	SWISS	420	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Arg489Pro	VAR_003373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003373	rs4690226 Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]	SWISS	492	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Leu490Pro	VAR_003374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003374	- Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]	SWISS	493	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Arg492Pro	VAR_003375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003375	- Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]	SWISS	495	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Pro496Leu	VAR_003376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003376	- Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]	SWISS	499	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Met504Thr	VAR_003377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003377	- Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]	SWISS	507	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Pro533Arg	VAR_003378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003378	- Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]	SWISS	537	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Pro533Arg	VAR_003378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003378	- Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]	SWISS	537	pfam01229	110611239,NP_000194
3425	92090608	Disease	p.Phe602Ile	VAR_020986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020986	- Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]	SWISS	No Domain	N/A	110611239,NP_000194
3425	92090608	Disease	p.Arg619Gly	VAR_017437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017437	- Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]	SWISS	No Domain	N/A	110611239,NP_000194
3425	92090608	Disease	p.Trp626Arg	VAR_003379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003379	- Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]	SWISS	No Domain	N/A	110611239,NP_000194
3425	92090608	Disease	p.Arg628Pro	VAR_020987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020987	- Mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]	SWISS	No Domain	N/A	110611239,NP_000194
3459	124474	Disease	p.Cys77Tyr	VAR_017577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017577	- Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]	SWISS	83	pfam01108	4557880,NP_000407
3459	124474	Disease	p.Ile87Thr	VAR_017578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017578	- Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]	SWISS	94	pfam01108	4557880,NP_000407
3460	145559548	Disease	p.Thr168Asn	VAR_023281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023281	- Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]	SWISS	50	pfam09294	47419934,NP_005525
3460	145559548	Disease	p.Thr168Asn	VAR_023281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023281	- Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]	SWISS	55	cd00063	47419934,NP_005525
3460	145559548	Disease	p.Thr168Asn	VAR_023281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023281	- Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]	SWISS	44	smart00060	47419934,NP_005525
55764	212276436	Disease	p.Trp7Cys	VAR_063584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063584	- Cranioectodermal dysplasia (CED) [MIM:218330]	SWISS	No Domain	N/A	16554623,NP_443715
55764	212276436	Disease	p.Ser322Phe	VAR_063585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063585	- Cranioectodermal dysplasia (CED) [MIM:218330]	SWISS	25	smart00320	16554623,NP_443715
55764	212276436	Disease	p.Ser322Phe	VAR_063585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063585	- Cranioectodermal dysplasia (CED) [MIM:218330]	SWISS	782	cd00200	16554623,NP_443715
55764	212276436	Disease	p.Val502Gly	VAR_063586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063586	- Cranioectodermal dysplasia (CED) [MIM:218330]	SWISS	No Domain	N/A	16554623,NP_443715
57560	294862504	Disease	p.His105Gln	VAR_035006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035006	- Asphyxiating thoracic dystrophy 2 (ATD2) [MIM:611263]	SWISS	32	COG2319	46409657,NP_065851
57560	294862504	Disease	p.His105Gln	VAR_035006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035006	- Asphyxiating thoracic dystrophy 2 (ATD2) [MIM:611263]	SWISS	23	smart00320	46409657,NP_065851
57560	294862504	Disease	p.His105Gln	VAR_035006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035006	- Asphyxiating thoracic dystrophy 2 (ATD2) [MIM:611263]	SWISS	247	cd00200	46409657,NP_065851
57560	294862504	Disease	p.His105Gln	VAR_035006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035006	- Asphyxiating thoracic dystrophy 2 (ATD2) [MIM:611263]	SWISS	11	pfam00400	46409657,NP_065851
57560	294862504	Disease	p.Ala701Pro	VAR_035009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035009	- Asphyxiating thoracic dystrophy 2 (ATD2) [MIM:611263]	SWISS	No Domain	N/A	46409657,NP_065851
3480	124240	Disease	p.Arg138Gln	VAR_034891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034891	- Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]	SWISS	135	pfam01030	4557665,NP_000866
3480	124240	Disease	p.Lys145Asn	VAR_034892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034892	- Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]	SWISS	146	pfam01030	4557665,NP_000866
3480	124240	Disease	p.Arg739Gln	VAR_034895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034895	- Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]	SWISS	No Domain	N/A	4557665,NP_000866
3508	229462778	Disease	p.Leu17Pro	VAR_058497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058497	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	28	COG1112	NULL
3508	229462778	Disease	p.Leu192Pro	VAR_022321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022321	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	9	smart00487	NULL
3508	229462778	Disease	p.Leu192Pro	VAR_022321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022321	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	391	COG1112	NULL
3508	229462778	Disease	p.Gln196Arg	VAR_058498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058498	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	14	smart00487	NULL
3508	229462778	Disease	p.Gln196Arg	VAR_058498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058498	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	395	COG1112	NULL
3508	229462778	Disease	p.His213Arg	VAR_022322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022322	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	8	smart00382	NULL
3508	229462778	Disease	p.His213Arg	VAR_022322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022322	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	6	cd00046	NULL
3508	229462778	Disease	p.His213Arg	VAR_022322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022322	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	128	smart00487	NULL
3508	229462778	Disease	p.His213Arg	VAR_022322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022322	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	413	COG1112	NULL
3508	229462778	Disease	p.Pro216Leu	VAR_058499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058499	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	12	smart00382	NULL
3508	229462778	Disease	p.Pro216Leu	VAR_058499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058499	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	9	cd00046	NULL
3508	229462778	Disease	p.Pro216Leu	VAR_058499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058499	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	131	smart00487	NULL
3508	229462778	Disease	p.Pro216Leu	VAR_058499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058499	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	417	COG1112	NULL
3508	229462778	Disease	p.Thr221Ala	VAR_022323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022323	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	18	smart00382	NULL
3508	229462778	Disease	p.Thr221Ala	VAR_022323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022323	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	14	cd00046	NULL
3508	229462778	Disease	p.Thr221Ala	VAR_022323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022323	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	136	smart00487	NULL
3508	229462778	Disease	p.Thr221Ala	VAR_022323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022323	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	422	COG1112	NULL
3508	229462778	Disease	p.Cys241Arg	VAR_022324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022324	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	77	smart00382	NULL
3508	229462778	Disease	p.Cys241Arg	VAR_022324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022324	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	72	cd00046	NULL
3508	229462778	Disease	p.Cys241Arg	VAR_022324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022324	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	462	smart00487	NULL
3508	229462778	Disease	p.Cys241Arg	VAR_022324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022324	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	469	COG1112	NULL
3508	229462778	Disease	p.Leu251Pro	VAR_058500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058500	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	87	smart00382	NULL
3508	229462778	Disease	p.Leu251Pro	VAR_058500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058500	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	82	cd00046	NULL
3508	229462778	Disease	p.Leu251Pro	VAR_058500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058500	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	473	smart00487	NULL
3508	229462778	Disease	p.Leu251Pro	VAR_058500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058500	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	479	COG1112	NULL
3508	229462778	Disease	p.Glu334Lys	VAR_022325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022325	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	230	smart00382	NULL
3508	229462778	Disease	p.Glu334Lys	VAR_022325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022325	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	203	cd00046	NULL
3508	229462778	Disease	p.Glu334Lys	VAR_022325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022325	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	686	smart00487	NULL
3508	229462778	Disease	p.Glu334Lys	VAR_022325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022325	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	608	COG1112	NULL
3508	229462778	Disease	p.Leu361Pro	VAR_022326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022326	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	258	smart00382	NULL
3508	229462778	Disease	p.Leu361Pro	VAR_022326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022326	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	397	cd00046	NULL
3508	229462778	Disease	p.Leu361Pro	VAR_022326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022326	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	919	smart00487	NULL
3508	229462778	Disease	p.Leu361Pro	VAR_022326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022326	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	658	COG1112	NULL
3508	229462778	Disease	p.Leu364Pro	VAR_022327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022327	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	261	smart00382	NULL
3508	229462778	Disease	p.Leu364Pro	VAR_022327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022327	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	400	cd00046	NULL
3508	229462778	Disease	p.Leu364Pro	VAR_022327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022327	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	954	smart00487	NULL
3508	229462778	Disease	p.Leu364Pro	VAR_022327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022327	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	661	COG1112	NULL
3508	229462778	Disease	p.Glu382Lys	VAR_022328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022328	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	322	smart00382	NULL
3508	229462778	Disease	p.Glu382Lys	VAR_022328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022328	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	418	cd00046	NULL
3508	229462778	Disease	p.Glu382Lys	VAR_022328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022328	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	973	smart00487	NULL
3508	229462778	Disease	p.Glu382Lys	VAR_022328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022328	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	682	COG1112	NULL
3508	229462778	Disease	p.Trp386Arg	VAR_058501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058501	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	339	smart00382	NULL
3508	229462778	Disease	p.Trp386Arg	VAR_058501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058501	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	422	cd00046	NULL
3508	229462778	Disease	p.Trp386Arg	VAR_058501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058501	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	997	smart00487	NULL
3508	229462778	Disease	p.Trp386Arg	VAR_058501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058501	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	686	COG1112	NULL
3508	229462778	Disease	p.Leu426Pro	VAR_022329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022329	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	675	smart00382	NULL
3508	229462778	Disease	p.Leu426Pro	VAR_022329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022329	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	1219	smart00487	NULL
3508	229462778	Disease	p.Leu426Pro	VAR_022329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022329	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	744	COG1112	NULL
3508	229462778	Disease	p.His445Pro	VAR_058502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058502	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	1277	smart00487	NULL
3508	229462778	Disease	p.His445Pro	VAR_058502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058502	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	769	COG1112	NULL
3508	229462778	Disease	p.Leu472Pro	VAR_058503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058503	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	796	COG1112	NULL
3508	229462778	Disease	p.Thr493Ile	VAR_058504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058504	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	831	COG1112	NULL
3508	229462778	Disease	p.Glu514Lys	VAR_022330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022330	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	857	COG1112	NULL
3508	229462778	Disease	p.Asp565Asn	VAR_022331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022331	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	928	COG1112	NULL
3508	229462778	Disease	p.Leu577Pro	VAR_022333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022333	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	957	COG1112	NULL
3508	229462778	Disease	p.Val580Ile	VAR_022334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022334	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	960	COG1112	NULL
3508	229462778	Disease	p.Arg581Ser	VAR_058505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058505	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	961	COG1112	NULL
3508	229462778	Disease	p.Asn583Ile	VAR_022335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022335	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	963	COG1112	NULL
3508	229462778	Disease	p.Gly586Cys	VAR_022336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022336	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	974	COG1112	NULL
3508	229462778	Disease	p.Arg603Cys	VAR_058506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058506	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	1005	COG1112	NULL
3508	229462778	Disease	p.Arg603His	VAR_022337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022337	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	1005	COG1112	NULL
3508	229462778	Disease	p.Arg637Cys	VAR_022338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022338	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	1049	COG1112	NULL
3508	229462778	Disease	p.Thr879Lys	VAR_022339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022339	rs17612126 Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	No Domain	N/A	NULL
3508	229462778	Disease	p.Asp974Glu	VAR_022340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022340	- Distal hereditary motor neuronopathy type 6 (HMN6) [MIM:604320]	SWISS	No Domain	N/A	NULL
3543	123944	Disease	p.Pro142Leu	VAR_034869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034869	rs1064422 Autosomal recessive non-Bruton type agammaglobulinemia [MIM:601495]	SWISS	13	smart00407	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	VAR_034869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034869	rs1064422 Autosomal recessive non-Bruton type agammaglobulinemia [MIM:601495]	SWISS	24	cd00096	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	VAR_034869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034869	rs1064422 Autosomal recessive non-Bruton type agammaglobulinemia [MIM:601495]	SWISS	27	pfam07654	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	VAR_034869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034869	rs1064422 Autosomal recessive non-Bruton type agammaglobulinemia [MIM:601495]	SWISS	30	cd07697	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	VAR_034869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034869	rs1064422 Autosomal recessive non-Bruton type agammaglobulinemia [MIM:601495]	SWISS	30	cd05768	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	VAR_034869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034869	rs1064422 Autosomal recessive non-Bruton type agammaglobulinemia [MIM:601495]	SWISS	28	cd05766	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	VAR_034869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034869	rs1064422 Autosomal recessive non-Bruton type agammaglobulinemia [MIM:601495]	SWISS	34	cd04986	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	VAR_034869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034869	rs1064422 Autosomal recessive non-Bruton type agammaglobulinemia [MIM:601495]	SWISS	36	cd05769	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	VAR_034869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034869	rs1064422 Autosomal recessive non-Bruton type agammaglobulinemia [MIM:601495]	SWISS	31	cd07698	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	VAR_034869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034869	rs1064422 Autosomal recessive non-Bruton type agammaglobulinemia [MIM:601495]	SWISS	32	cd07696	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	VAR_034869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034869	rs1064422 Autosomal recessive non-Bruton type agammaglobulinemia [MIM:601495]	SWISS	43	cd00098	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	VAR_034869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034869	rs1064422 Autosomal recessive non-Bruton type agammaglobulinemia [MIM:601495]	SWISS	29	cd05847	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	VAR_034869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034869	rs1064422 Autosomal recessive non-Bruton type agammaglobulinemia [MIM:601495]	SWISS	32	cd04985	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	VAR_034869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034869	rs1064422 Autosomal recessive non-Bruton type agammaglobulinemia [MIM:601495]	SWISS	31	cd07699	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	VAR_034869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034869	rs1064422 Autosomal recessive non-Bruton type agammaglobulinemia [MIM:601495]	SWISS	29	cd05770	13399298,NP_064455
3543	123944	Disease	p.Pro142Leu	VAR_034869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034869	rs1064422 Autosomal recessive non-Bruton type agammaglobulinemia [MIM:601495]	SWISS	29	cd05767	13399298,NP_064455
3549	33112634	Disease	p.Pro46Leu	VAR_015981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015981	- Acrocapitofemoral dysplasia (ACFD) [MIM:607778]	SWISS	3	pfam01085	119392086,NP_002172
3549	33112634	Disease	p.Glu95Lys	VAR_015982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015982	- Brachydactyly type A1 (BDA1) [MIM:112500]	SWISS	52	pfam01085	119392086,NP_002172
3549	33112634	Disease	p.Asp100Glu	VAR_015983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015983	- Brachydactyly type A1 (BDA1) [MIM:112500]	SWISS	57	pfam01085	119392086,NP_002172
3549	33112634	Disease	p.Asp100Asn	VAR_015984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015984	rs28936377 Brachydactyly type A1 (BDA1) [MIM:112500]	SWISS	57	pfam01085	119392086,NP_002172
3549	33112634	Disease	p.Glu131Lys	VAR_015985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015985	- Brachydactyly type A1 (BDA1) [MIM:112500]	SWISS	88	pfam01085	119392086,NP_002172
3549	33112634	Disease	p.Val190Ala	VAR_015986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015986	- Acrocapitofemoral dysplasia (ACFD) [MIM:607778]	SWISS	No Domain	N/A	119392086,NP_002172
8518	215274166	Disease	p.Arg696Pro	VAR_011327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011327	- Hereditary sensory and autonomic neuropathy type 3 (HSAN3) [MIM:223900]	SWISS	1325	pfam04762	38569394,NP_003631
8518	215274166	Disease	p.Arg696Pro	VAR_011327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011327	- Hereditary sensory and autonomic neuropathy type 3 (HSAN3) [MIM:223900]	SWISS	712	COG5290	38569394,NP_003631
8517	6685695	Disease	p.Glu57Lys	VAR_026491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026491	- Incontinentia pigmenti (IP) [MIM:308300]	SWISS	14	pfam11577	4504631,NP_003630|153792133,NP_001093327
8517	6685695	Disease	p.Asp113Asn	VAR_026493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026493	- Incontinentia pigmenti (IP) [MIM:308300]	SWISS	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	6685695	Disease	p.Arg123Trp	VAR_026494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026494	- Incontinentia pigmenti (IP) [MIM:308300]	SWISS	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	6685695	Disease	p.Leu153Arg	VAR_026495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026495	- Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291]	SWISS	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	6685695	Disease	p.Arg173Gly	VAR_031958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031958	- Recurrent isolated invasive pneumococcal disease type 2 (IPD2) [MIM:300640]	SWISS	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	6685695	Disease	p.Arg175Pro	VAR_011320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011320	- Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291]	SWISS	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	6685695	Disease	p.Leu227Pro	VAR_011321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011321	- Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291]	SWISS	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	6685695	Disease	p.Ala288Gly	VAR_011322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011322	- Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291]	SWISS	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	6685695	Disease	p.Asp311Asn	VAR_011323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011323	- Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291]	SWISS	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	6685695	Disease	p.Glu315Ala	VAR_031959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031959	- X-linked familial atypical micobacteriosis type 1 (AMCBX1) [MIM:300636]	SWISS	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	6685695	Disease	p.Arg319Gln	VAR_031960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031960	- X-linked familial atypical micobacteriosis type 1 (AMCBX1) [MIM:300636]	SWISS	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	6685695	Disease	p.Ala323Pro	VAR_042666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042666	- Incontinentia pigmenti (IP) [MIM:308300]	SWISS	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	6685695	Disease	p.Asp406Val	VAR_011324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011324	- Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291]	SWISS	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	6685695	Disease	p.Met407Val	VAR_009182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009182	- Incontinentia pigmenti (IP) [MIM:308300]	SWISS	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	6685695	Disease	p.Cys417Phe	VAR_011325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011325	- Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291]	SWISS	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	6685695	Disease	p.Cys417Arg	VAR_011326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011326	- Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291]	SWISS	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
8517	6685695	Disease	p.Cys417Tyr	VAR_026496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026496	- Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAID) [MIM:300291]	SWISS	No Domain	N/A	4504631,NP_003630|153792133,NP_001093327
3587	3024000	Disease	p.Thr84Ile	VAR_063542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063542	- Inflammatory bowel disease type 28 (IBD28) [MIM:613148]	SWISS	95	pfam01108	NULL
3587	3024000	Disease	p.Gly141Arg	VAR_063543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063543	- Inflammatory bowel disease type 28 (IBD28) [MIM:613148]	SWISS	No Domain	N/A	NULL
3594	1170462	Disease	p.Arg213Trp	VAR_015577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015577	- Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]	SWISS	No Domain	N/A	5031785,NP_005526
3561	400048	Disease	p.Asp39Asn	VAR_002668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002668	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	No Domain	N/A	4557882,NP_000197
3561	400048	Disease	p.Cys62Gly	VAR_002669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002669	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	7	pfam09240	4557882,NP_000197
3561	400048	Disease	p.Glu68Gly	VAR_002670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002670	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	24	pfam09240	4557882,NP_000197
3561	400048	Disease	p.Glu68Lys	VAR_002671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002671	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	24	pfam09240	4557882,NP_000197
3561	400048	Disease	p.Asn84Lys	VAR_002672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002672	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	41	pfam09240	4557882,NP_000197
3561	400048	Disease	p.Tyr89Cys	VAR_002673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002673	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	46	pfam09240	4557882,NP_000197
3561	400048	Disease	p.Tyr105Cys	VAR_002674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002674	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	65	pfam09240	4557882,NP_000197
3561	400048	Disease	p.Gly114Asp	VAR_002675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002675	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	83	pfam09240	4557882,NP_000197
3561	400048	Disease	p.Cys115Phe	VAR_002676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002676	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	84	pfam09240	4557882,NP_000197
3561	400048	Disease	p.Cys115Arg	VAR_002677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002677	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	84	pfam09240	4557882,NP_000197
3561	400048	Disease	p.His123Pro	VAR_002678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002678	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	94	pfam09240	4557882,NP_000197
3561	400048	Disease	p.Tyr125Asn	VAR_002679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002679	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	96	pfam09240	4557882,NP_000197
3561	400048	Disease	p.Gln144Pro	VAR_002680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002680	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	123	pfam09240	4557882,NP_000197
3561	400048	Disease	p.Ile153Asn	VAR_002681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002681	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	No Domain	N/A	4557882,NP_000197
3561	400048	Disease	p.Ala156Val	VAR_002682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002682	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	3	smart00060	4557882,NP_000197
3561	400048	Disease	p.Ala156Val	VAR_002682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002682	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	4	cd00063	4557882,NP_000197
3561	400048	Disease	p.Leu162His	VAR_002683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002683	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	12	smart00060	4557882,NP_000197
3561	400048	Disease	p.Leu162His	VAR_002683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002683	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	13	cd00063	4557882,NP_000197
3561	400048	Disease	p.Leu172Pro	VAR_002684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002684	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	28	smart00060	4557882,NP_000197
3561	400048	Disease	p.Leu172Pro	VAR_002684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002684	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	41	cd00063	4557882,NP_000197
3561	400048	Disease	p.Leu172Gln	VAR_002685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002685	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	28	smart00060	4557882,NP_000197
3561	400048	Disease	p.Leu172Gln	VAR_002685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002685	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	41	cd00063	4557882,NP_000197
3561	400048	Disease	p.Cys182Arg	VAR_002686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002686	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	43	smart00060	4557882,NP_000197
3561	400048	Disease	p.Cys182Arg	VAR_002686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002686	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	58	cd00063	4557882,NP_000197
3561	400048	Disease	p.Leu183Ser	VAR_002687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002687	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	60	smart00060	4557882,NP_000197
3561	400048	Disease	p.Leu183Ser	VAR_002687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002687	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	59	cd00063	4557882,NP_000197
3561	400048	Disease	p.Arg222Cys	VAR_002688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002688	- X-linked combined immunodeficiency (XCID) [MIM:312863]	SWISS	178	smart00060	4557882,NP_000197
3561	400048	Disease	p.Arg222Cys	VAR_002688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002688	- X-linked combined immunodeficiency (XCID) [MIM:312863]	SWISS	158	cd00063	4557882,NP_000197
3561	400048	Disease	p.Arg224Trp	VAR_002689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002689	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	180	smart00060	4557882,NP_000197
3561	400048	Disease	p.Arg224Trp	VAR_002689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002689	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	160	cd00063	4557882,NP_000197
3561	400048	Disease	p.Arg226Cys	VAR_002690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002690	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	182	smart00060	4557882,NP_000197
3561	400048	Disease	p.Arg226Cys	VAR_002690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002690	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	162	cd00063	4557882,NP_000197
3561	400048	Disease	p.Arg226His	VAR_002691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002691	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	182	smart00060	4557882,NP_000197
3561	400048	Disease	p.Arg226His	VAR_002691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002691	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	162	cd00063	4557882,NP_000197
3561	400048	Disease	p.Phe227Cys	VAR_002692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002692	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	183	smart00060	4557882,NP_000197
3561	400048	Disease	p.Phe227Cys	VAR_002692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002692	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	163	cd00063	4557882,NP_000197
3561	400048	Disease	p.Leu230Pro	VAR_002693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002693	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	188	smart00060	4557882,NP_000197
3561	400048	Disease	p.Leu230Pro	VAR_002693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002693	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	166	cd00063	4557882,NP_000197
3561	400048	Disease	p.Cys231Tyr	VAR_002694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002694	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	189	smart00060	4557882,NP_000197
3561	400048	Disease	p.Cys231Tyr	VAR_002694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002694	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	167	cd00063	4557882,NP_000197
3561	400048	Disease	p.Gly232Arg	VAR_002695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002695	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	168	cd00063	4557882,NP_000197
3561	400048	Disease	p.Trp240Cys	VAR_002697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002697	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	178	cd00063	4557882,NP_000197
3561	400048	Disease	p.Ser241Ile	VAR_002698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002698	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	179	cd00063	4557882,NP_000197
3561	400048	Disease	p.Met270Arg	VAR_002699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002699	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	No Domain	N/A	4557882,NP_000197
3561	400048	Disease	p.Arg285Gln	VAR_002701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002701	- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]	SWISS	No Domain	N/A	4557882,NP_000197
3561	400048	Disease	p.Leu293Gln	VAR_002702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002702	- X-linked combined immunodeficiency (XCID) [MIM:312863]	SWISS	No Domain	N/A	4557882,NP_000197
3575	215274000	Disease	p.Thr66Ile	VAR_021286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021286	rs1494558 Autosomal recessive severe combined immunodeficiency T-cell-negative/B-cell-positive/NK cell-positive (T(-)/B(+)/NK(+) SCID) [MIM:608971]	SWISS	No Domain	N/A	NULL
3575	215274000	Disease	p.Pro132Ser	VAR_034870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034870	- Autosomal recessive severe combined immunodeficiency T-cell-negative/B-cell-positive/NK cell-positive (T(-)/B(+)/NK(+) SCID) [MIM:608971]	SWISS	3	pfam00041	NULL
3575	215274000	Disease	p.Ile138Val	VAR_021288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021288	rs1494555 Autosomal recessive severe combined immunodeficiency T-cell-negative/B-cell-positive/NK cell-positive (T(-)/B(+)/NK(+) SCID) [MIM:608971]	SWISS	10	pfam00041	NULL
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	480	COG0517	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	227	pfam00478	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	106	cd04605	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	123	cd04602	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	118	cd04601	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	141	cd04586	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	69	smart00116	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	106	cd04588	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	115	cd04611	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	130	cd04600	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	221	cd02205	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	114	cd04595	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	152	cd04612	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	130	cd04585	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	135	cd04621	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	139	cd04636	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	132	cd04631	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	119	cd04622	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	123	cd04633	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	146	cd04613	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	142	cd04803	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	122	cd04609	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	104	cd04610	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	150	cd04623	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	145	cd04800	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	100	cd04599	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	134	cd04587	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	104	cd04638	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	120	cd04802	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	123	cd04801	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	118	cd04584	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	128	cd04635	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	139	cd04634	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	114	pfam00571	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	253	COG0516	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	232	cd00381	217035146,NP_001136045
3614	25014074	Disease	p.Arg224Pro	VAR_017031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017031	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	192	cd04722	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	482	COG0517	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	229	pfam00478	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	108	cd04605	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	125	cd04602	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	120	cd04601	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	143	cd04586	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	71	smart00116	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	108	cd04588	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	117	cd04611	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	132	cd04600	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	228	cd02205	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	116	cd04595	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	154	cd04612	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	132	cd04585	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	137	cd04621	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	141	cd04636	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	134	cd04631	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	121	cd04622	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	125	cd04633	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	148	cd04613	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	144	cd04803	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	124	cd04609	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	106	cd04610	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	152	cd04623	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	147	cd04800	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	102	cd04599	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	136	cd04587	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	106	cd04638	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	122	cd04802	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	125	cd04801	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	120	cd04584	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	130	cd04635	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	141	cd04634	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	116	pfam00571	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	255	COG0516	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	234	cd00381	217035146,NP_001136045
3614	25014074	Disease	p.Asp226Asn	VAR_017032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017032	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	194	cd04722	217035146,NP_001136045
3614	25014074	Disease	p.Val268Ile	VAR_017033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017033	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	281	pfam00478	217035146,NP_001136045
3614	25014074	Disease	p.Val268Ile	VAR_017033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017033	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	284	cd00381	217035146,NP_001136045
3614	25014074	Disease	p.Val268Ile	VAR_017033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017033	- Retinitis pigmentosa type 10 (RP10) [MIM:180105]	SWISS	288	cd04722	217035146,NP_001136045
64423	166215588	Disease	p.Ala13Thr	VAR_063075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063075	- Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]	SWISS	49	pfam06371	149999380,NP_071934
64423	166215588	Disease	p.Leu42Pro	VAR_063076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063076	- Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]	SWISS	117	pfam06371	149999380,NP_071934
64423	166215588	Disease	p.Glu184Lys	VAR_063077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063077	- Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]	SWISS	31	pfam06367	149999380,NP_071934
64423	166215588	Disease	p.Ser186Pro	VAR_063078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063078	- Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]	SWISS	33	pfam06367	149999380,NP_071934
64423	166215588	Disease	p.Leu198Arg	VAR_063079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063079	- Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]	SWISS	65	pfam06367	149999380,NP_071934
64423	166215588	Disease	p.Arg214His	VAR_063080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063080	- Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]	SWISS	94	pfam06367	149999380,NP_071934
64423	166215588	Disease	p.Arg218Gln	VAR_063081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063081	- Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]	SWISS	98	pfam06367	149999380,NP_071934
64423	166215588	Disease	p.Arg218Trp	VAR_063082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063082	- Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]	SWISS	98	pfam06367	149999380,NP_071934
64423	166215588	Disease	p.Glu220Lys	VAR_063083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063083	- Focal segmental glomerulosclerosis type 5 (FSGS5) [MIM:613237]	SWISS	100	pfam06367	149999380,NP_071934
56623	212276439	Disease	p.Arg378Cys	VAR_063012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063012	- Joubert syndrome type 1 (JBTS1) [MIM:213300]	SWISS	138	COG5411	38327539,NP_063945
56623	212276439	Disease	p.Arg378Cys	VAR_063012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063012	- Joubert syndrome type 1 (JBTS1) [MIM:213300]	SWISS	303	smart00128	38327539,NP_063945
56623	212276439	Disease	p.Arg378Cys	VAR_063012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063012	- Joubert syndrome type 1 (JBTS1) [MIM:213300]	SWISS	141	pfam03372	38327539,NP_063945
56623	212276439	Disease	p.Arg435Gln	VAR_063013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063013	- Joubert syndrome type 1 (JBTS1) [MIM:213300]	SWISS	203	COG5411	38327539,NP_063945
56623	212276439	Disease	p.Arg435Gln	VAR_063013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063013	- Joubert syndrome type 1 (JBTS1) [MIM:213300]	SWISS	379	smart00128	38327539,NP_063945
56623	212276439	Disease	p.Arg435Gln	VAR_063013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063013	- Joubert syndrome type 1 (JBTS1) [MIM:213300]	SWISS	291	pfam03372	38327539,NP_063945
56623	212276439	Disease	p.Arg512Trp	VAR_063014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063014	- Joubert syndrome type 1 (JBTS1) [MIM:213300]	SWISS	271	COG5411	38327539,NP_063945
56623	212276439	Disease	p.Arg512Trp	VAR_063014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063014	- Joubert syndrome type 1 (JBTS1) [MIM:213300]	SWISS	545	smart00128	38327539,NP_063945
56623	212276439	Disease	p.Arg512Trp	VAR_063014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063014	- Joubert syndrome type 1 (JBTS1) [MIM:213300]	SWISS	386	pfam03372	38327539,NP_063945
56623	212276439	Disease	p.Arg515Trp	VAR_063015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063015	- Joubert syndrome type 1 (JBTS1) [MIM:213300]	SWISS	274	COG5411	38327539,NP_063945
56623	212276439	Disease	p.Arg515Trp	VAR_063015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063015	- Joubert syndrome type 1 (JBTS1) [MIM:213300]	SWISS	548	smart00128	38327539,NP_063945
56623	212276439	Disease	p.Arg515Trp	VAR_063015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063015	- Joubert syndrome type 1 (JBTS1) [MIM:213300]	SWISS	482	pfam03372	38327539,NP_063945
56623	212276439	Disease	p.Arg563His	VAR_063016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063016	- Joubert syndrome type 1 (JBTS1) [MIM:213300]	SWISS	323	COG5411	38327539,NP_063945
56623	212276439	Disease	p.Arg563His	VAR_063016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063016	- Joubert syndrome type 1 (JBTS1) [MIM:213300]	SWISS	625	smart00128	38327539,NP_063945
56623	212276439	Disease	p.Arg563His	VAR_063016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063016	- Joubert syndrome type 1 (JBTS1) [MIM:213300]	SWISS	569	pfam03372	38327539,NP_063945
56623	212276439	Disease	p.Lys580Glu	VAR_063017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063017	- Joubert syndrome type 1 (JBTS1) [MIM:213300]	SWISS	344	COG5411	38327539,NP_063945
56623	212276439	Disease	p.Lys580Glu	VAR_063017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063017	- Joubert syndrome type 1 (JBTS1) [MIM:213300]	SWISS	663	smart00128	38327539,NP_063945
56623	212276439	Disease	p.Lys580Glu	VAR_063017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063017	- Joubert syndrome type 1 (JBTS1) [MIM:213300]	SWISS	620	pfam03372	38327539,NP_063945
3630	124617	Disease	p.Arg6Cys	VAR_063721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063721	- Maturity-onset diabetes of the young type 10 (MODY10) [MIM:613370]	SWISS	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg6His	VAR_063722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063722	- Maturity-onset diabetes of the young type 10 (MODY10) [MIM:613370]	SWISS	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Ala24Asp	VAR_063723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063723	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	No Domain	N/A	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.His29Asp	VAR_063724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063724	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	2	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.His29Asp	VAR_063724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063724	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	2	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.His29Asp	VAR_063724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063724	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	4	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.His29Asp	VAR_063724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063724	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	4	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Arg	VAR_063725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063725	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	5	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Arg	VAR_063725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063725	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	5	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Arg	VAR_063725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063725	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	3	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Arg	VAR_063725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063725	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	3	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Arg	VAR_063725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063725	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	7	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Arg	VAR_063725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063725	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	7	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	VAR_063726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063726	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	5	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	VAR_063726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063726	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	5	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	VAR_063726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063726	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	3	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	VAR_063726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063726	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	3	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	VAR_063726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063726	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	7	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly32Ser	VAR_063726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063726	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	7	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.His34Asp	VAR_003971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003971	- Familial hyperproinsulinemia [MIM:176730]	SWISS	7	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.His34Asp	VAR_003971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003971	- Familial hyperproinsulinemia [MIM:176730]	SWISS	7	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.His34Asp	VAR_003971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003971	- Familial hyperproinsulinemia [MIM:176730]	SWISS	5	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.His34Asp	VAR_003971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003971	- Familial hyperproinsulinemia [MIM:176730]	SWISS	5	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.His34Asp	VAR_003971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003971	- Familial hyperproinsulinemia [MIM:176730]	SWISS	9	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.His34Asp	VAR_003971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003971	- Familial hyperproinsulinemia [MIM:176730]	SWISS	9	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Leu35Pro	VAR_063727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063727	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	8	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Leu35Pro	VAR_063727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063727	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	8	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Leu35Pro	VAR_063727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063727	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	6	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Leu35Pro	VAR_063727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063727	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	6	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Leu35Pro	VAR_063727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063727	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	10	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Leu35Pro	VAR_063727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063727	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	10	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	VAR_063728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063728	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	17	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	VAR_063728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063728	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	17	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	VAR_063728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063728	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	15	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	VAR_063728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063728	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	14	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	VAR_063728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063728	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	18	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys43Gly	VAR_063728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063728	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	19	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	VAR_063729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063729	- Maturity-onset diabetes of the young type 10 (MODY10) [MIM:613370]	SWISS	20	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	VAR_063729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063729	- Maturity-onset diabetes of the young type 10 (MODY10) [MIM:613370]	SWISS	29	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	VAR_063729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063729	- Maturity-onset diabetes of the young type 10 (MODY10) [MIM:613370]	SWISS	18	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	VAR_063729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063729	- Maturity-onset diabetes of the young type 10 (MODY10) [MIM:613370]	SWISS	17	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	VAR_063729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063729	- Maturity-onset diabetes of the young type 10 (MODY10) [MIM:613370]	SWISS	21	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg46Gln	VAR_063729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063729	- Maturity-onset diabetes of the young type 10 (MODY10) [MIM:613370]	SWISS	22	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly47Val	VAR_063730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063730	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	21	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly47Val	VAR_063730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063730	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	31	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly47Val	VAR_063730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063730	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	19	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly47Val	VAR_063730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063730	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	18	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly47Val	VAR_063730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063730	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	22	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly47Val	VAR_063730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063730	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	23	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	VAR_063731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063731	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	22	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	VAR_063731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063731	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	32	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	VAR_063731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063731	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	20	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	VAR_063731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063731	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	19	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	VAR_063731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063731	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	23	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Phe48Cys	VAR_063731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063731	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	24	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	VAR_063732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063732	- Diabetes mellitus insulin-dependent type 2 (IDDM2) [MIM:125852]	SWISS	29	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	VAR_063732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063732	- Diabetes mellitus insulin-dependent type 2 (IDDM2) [MIM:125852]	SWISS	40	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	VAR_063732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063732	- Diabetes mellitus insulin-dependent type 2 (IDDM2) [MIM:125852]	SWISS	27	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	VAR_063732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063732	- Diabetes mellitus insulin-dependent type 2 (IDDM2) [MIM:125852]	SWISS	26	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	VAR_063732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063732	- Diabetes mellitus insulin-dependent type 2 (IDDM2) [MIM:125852]	SWISS	30	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg55Cys	VAR_063732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063732	- Diabetes mellitus insulin-dependent type 2 (IDDM2) [MIM:125852]	SWISS	31	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly84Arg	VAR_063734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063734	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	130	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly84Arg	VAR_063734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063734	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	137	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly84Arg	VAR_063734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063734	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	142	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly84Arg	VAR_063734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063734	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	102	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly84Arg	VAR_063734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063734	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	39	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly84Arg	VAR_063734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063734	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	65	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	VAR_063735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063735	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	135	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	VAR_063735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063735	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	149	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	VAR_063735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063735	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	147	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	VAR_063735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063735	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	105	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	VAR_063735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063735	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	44	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Cys	VAR_063735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063735	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	70	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89His	VAR_003974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003974	rs28933985 Familial hyperproinsulinemia [MIM:176730]	SWISS	135	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89His	VAR_003974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003974	rs28933985 Familial hyperproinsulinemia [MIM:176730]	SWISS	149	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89His	VAR_003974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003974	rs28933985 Familial hyperproinsulinemia [MIM:176730]	SWISS	147	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89His	VAR_003974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003974	rs28933985 Familial hyperproinsulinemia [MIM:176730]	SWISS	105	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89His	VAR_003974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003974	rs28933985 Familial hyperproinsulinemia [MIM:176730]	SWISS	44	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89His	VAR_003974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003974	rs28933985 Familial hyperproinsulinemia [MIM:176730]	SWISS	70	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Leu	VAR_003975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003975	- Familial hyperproinsulinemia [MIM:176730]	SWISS	135	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Leu	VAR_003975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003975	- Familial hyperproinsulinemia [MIM:176730]	SWISS	149	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Leu	VAR_003975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003975	- Familial hyperproinsulinemia [MIM:176730]	SWISS	147	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Leu	VAR_003975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003975	- Familial hyperproinsulinemia [MIM:176730]	SWISS	105	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Leu	VAR_003975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003975	- Familial hyperproinsulinemia [MIM:176730]	SWISS	44	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Arg89Leu	VAR_003975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003975	- Familial hyperproinsulinemia [MIM:176730]	SWISS	70	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly90Cys	VAR_063736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063736	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	136	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly90Cys	VAR_063736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063736	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	150	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly90Cys	VAR_063736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063736	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	148	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly90Cys	VAR_063736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063736	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	106	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly90Cys	VAR_063736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063736	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	45	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Gly90Cys	VAR_063736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063736	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	71	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Ser	VAR_063737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063737	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	142	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Ser	VAR_063737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063737	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	158	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Ser	VAR_063737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063737	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	154	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Ser	VAR_063737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063737	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	112	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Ser	VAR_063737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063737	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	51	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Ser	VAR_063737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063737	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	77	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	VAR_063738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063738	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	142	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	VAR_063738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063738	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	158	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	VAR_063738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063738	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	154	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	VAR_063738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063738	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	112	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	VAR_063738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063738	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	51	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Cys96Tyr	VAR_063738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063738	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	77	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Ser101Cys	VAR_063739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063739	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	147	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Ser101Cys	VAR_063739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063739	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	163	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Ser101Cys	VAR_063739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063739	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	160	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Ser101Cys	VAR_063739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063739	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	117	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Ser101Cys	VAR_063739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063739	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	56	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Ser101Cys	VAR_063739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063739	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	82	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Tyr103Cys	VAR_063740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063740	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	149	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Tyr103Cys	VAR_063740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063740	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	165	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Tyr103Cys	VAR_063740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063740	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	162	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Tyr103Cys	VAR_063740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063740	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	119	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Tyr103Cys	VAR_063740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063740	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	58	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Tyr103Cys	VAR_063740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063740	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	84	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Tyr108Cys	VAR_063741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063741	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	154	smart00078	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Tyr108Cys	VAR_063741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063741	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	170	pfam00049	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Tyr108Cys	VAR_063741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063741	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	168	cd00101	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Tyr108Cys	VAR_063741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063741	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	125	cd04366	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Tyr108Cys	VAR_063741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063741	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	63	cd04368	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3630	124617	Disease	p.Tyr108Cys	VAR_063741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063741	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	89	cd04367	4557671,NP_000198|297374821,NP_001172026|297374823,NP_001172027
3640	1708497	Disease	p.Pro93Leu	VAR_013235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013235	- Cryptorchidism [MIM:219050]	SWISS	131	cd00101	NULL
3640	1708497	Disease	p.Pro93Leu	VAR_013235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013235	- Cryptorchidism [MIM:219050]	SWISS	133	cd04365	NULL
3640	1708497	Disease	p.Pro93Leu	VAR_013235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013235	- Cryptorchidism [MIM:219050]	SWISS	130	pfam00049	NULL
3640	1708497	Disease	p.Pro93Leu	VAR_013235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013235	- Cryptorchidism [MIM:219050]	SWISS	78	smart00078	NULL
3640	1708497	Disease	p.Arg102Cys	VAR_013236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013236	- Cryptorchidism [MIM:219050]	SWISS	140	cd00101	NULL
3640	1708497	Disease	p.Arg102Cys	VAR_013236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013236	- Cryptorchidism [MIM:219050]	SWISS	142	cd04365	NULL
3640	1708497	Disease	p.Arg102Cys	VAR_013236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013236	- Cryptorchidism [MIM:219050]	SWISS	140	pfam00049	NULL
3640	1708497	Disease	p.Arg102Cys	VAR_013236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013236	- Cryptorchidism [MIM:219050]	SWISS	128	smart00078	NULL
3640	1708497	Disease	p.Asn110Lys	VAR_017122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017122	- Cryptorchidism [MIM:219050]	SWISS	148	cd00101	NULL
3640	1708497	Disease	p.Asn110Lys	VAR_017122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017122	- Cryptorchidism [MIM:219050]	SWISS	151	cd04365	NULL
3640	1708497	Disease	p.Asn110Lys	VAR_017122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017122	- Cryptorchidism [MIM:219050]	SWISS	150	pfam00049	NULL
3640	1708497	Disease	p.Asn110Lys	VAR_017122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017122	- Cryptorchidism [MIM:219050]	SWISS	136	smart00078	NULL
3643	308153655	Disease	p.Asn42Lys	VAR_004079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004079	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	No Domain	N/A	119395736,NP_000199
3643	308153655	Disease	p.Val55Ala	VAR_004080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004080	- Leprechaunism [MIM:246200]	SWISS	4	pfam01030	119395736,NP_000199
3643	308153655	Disease	p.Gly58Arg	VAR_004081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004081	rs52836744 Leprechaunism [MIM:246200]	SWISS	7	pfam01030	119395736,NP_000199
3643	308153655	Disease	p.Asp86Gly	VAR_015907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015907	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	57	pfam01030	119395736,NP_000199
3643	308153655	Disease	p.Leu89Pro	VAR_015908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015908	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	60	pfam01030	119395736,NP_000199
3643	308153655	Disease	p.Arg113Pro	VAR_004082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004082	- Leprechaunism [MIM:246200]	SWISS	84	pfam01030	119395736,NP_000199
3643	308153655	Disease	p.Ala119Val	VAR_015909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015909	- Leprechaunism [MIM:246200]	SWISS	96	pfam01030	119395736,NP_000199
3643	308153655	Disease	p.Leu120Gln	VAR_031518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031518	- Leprechaunism [MIM:246200]	SWISS	97	pfam01030	119395736,NP_000199
3643	308153655	Disease	p.Ile146Met	VAR_015539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015539	- Leprechaunism [MIM:246200]	SWISS	144	pfam01030	119395736,NP_000199
3643	308153655	Disease	p.Val167Leu	VAR_015910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015910	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	No Domain	N/A	119395736,NP_000199
3643	308153655	Disease	p.Pro220Leu	VAR_004083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004083	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	84	pfam00757	119395736,NP_000199
3643	308153655	Disease	p.His236Arg	VAR_004084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004084	- Leprechaunism [MIM:246200]	SWISS	107	pfam00757	119395736,NP_000199
3643	308153655	Disease	p.His236Arg	VAR_004084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004084	- Leprechaunism [MIM:246200]	SWISS	14	smart00261	119395736,NP_000199
3643	308153655	Disease	p.His236Arg	VAR_004084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004084	- Leprechaunism [MIM:246200]	SWISS	3	cd00064	119395736,NP_000199
3643	308153655	Disease	p.Leu260Pro	VAR_004085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004085	- Leprechaunism [MIM:246200]	SWISS	139	pfam00757	119395736,NP_000199
3643	308153655	Disease	p.Leu260Pro	VAR_004085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004085	- Leprechaunism [MIM:246200]	SWISS	71	smart00261	119395736,NP_000199
3643	308153655	Disease	p.Leu260Pro	VAR_004085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004085	- Leprechaunism [MIM:246200]	SWISS	62	cd00064	119395736,NP_000199
3643	308153655	Disease	p.Arg279Cys	VAR_015540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015540	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	pfam00757	119395736,NP_000199
3643	308153655	Disease	p.Arg279Cys	VAR_015540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015540	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	117	cd00064	119395736,NP_000199
3643	308153655	Disease	p.Arg279His	VAR_031519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031519	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	179	pfam00757	119395736,NP_000199
3643	308153655	Disease	p.Arg279His	VAR_031519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031519	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	117	cd00064	119395736,NP_000199
3643	308153655	Disease	p.Cys280Tyr	VAR_015911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015911	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	pfam00757	119395736,NP_000199
3643	308153655	Disease	p.Cys280Tyr	VAR_015911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015911	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	118	cd00064	119395736,NP_000199
3643	308153655	Disease	p.Cys301Tyr	VAR_015912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015912	- Leprechaunism [MIM:246200]	SWISS	216	pfam00757	119395736,NP_000199
3643	308153655	Disease	p.Ser350Leu	VAR_015914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015914	- Leprechaunism [MIM:246200]	SWISS	No Domain	N/A	119395736,NP_000199
3643	308153655	Disease	p.Ser350Leu	VAR_015914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015914	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	No Domain	N/A	119395736,NP_000199
3643	308153655	Disease	p.Gly386Ser	VAR_031520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031520	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	50	pfam01030	119395736,NP_000199
3643	308153655	Disease	p.Gly393Arg	VAR_004086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004086	- Leprechaunism [MIM:246200]	SWISS	57	pfam01030	119395736,NP_000199
3643	308153655	Disease	p.Phe409Val	VAR_004087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004087	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	74	pfam01030	119395736,NP_000199
3643	308153655	Disease	p.Trp439Ser	VAR_015542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015542	- Leprechaunism [MIM:246200]	SWISS	124	pfam01030	119395736,NP_000199
3643	308153655	Disease	p.Asn458Asp	VAR_031521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031521	- Leprechaunism [MIM:246200]	SWISS	147	pfam01030	119395736,NP_000199
3643	308153655	Disease	p.Lys487Glu	VAR_004088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004088	rs28933083 Leprechaunism [MIM:246200]	SWISS	No Domain	N/A	119395736,NP_000199
3643	308153655	Disease	p.Asn489Ser	VAR_004089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004089	rs28933085 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	No Domain	N/A	119395736,NP_000199
3643	308153655	Disease	p.Arg762Ser	VAR_004090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004090	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	No Domain	N/A	119395736,NP_000199
3643	308153655	Disease	p.Thr858Ala	VAR_015917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015917	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	12	smart00060	119395736,NP_000199
3643	308153655	Disease	p.Thr858Ala	VAR_015917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015917	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	13	cd00063	119395736,NP_000199
3643	308153655	Disease	p.Ile925Thr	VAR_015918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015918	- Leprechaunism [MIM:246200]	SWISS	179	smart00060	119395736,NP_000199
3643	308153655	Disease	p.Ile925Thr	VAR_015918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015918	- Leprechaunism [MIM:246200]	SWISS	159	cd00063	119395736,NP_000199
3643	308153655	Disease	p.Arg926Trp	VAR_015919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015919	- Leprechaunism [MIM:246200]	SWISS	180	smart00060	119395736,NP_000199
3643	308153655	Disease	p.Arg926Trp	VAR_015919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015919	- Leprechaunism [MIM:246200]	SWISS	160	cd00063	119395736,NP_000199
3643	308153655	Disease	p.Thr937Met	VAR_015920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015920	- Leprechaunism [MIM:246200]	SWISS	179	cd00063	119395736,NP_000199
3643	308153655	Disease	p.Pro997Thr	VAR_015921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015921	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	16	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Pro997Thr	VAR_015921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015921	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	6	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Pro997Thr	VAR_015921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015921	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	13	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Pro997Thr	VAR_015921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015921	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	9	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Pro997Thr	VAR_015921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015921	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	14	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Pro997Thr	VAR_015921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015921	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	3	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Pro997Thr	VAR_015921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015921	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	2	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Pro997Thr	VAR_015921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015921	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	2	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	23	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	21	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14_G	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	3	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	3	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	6	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	6	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	3	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	3	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	3	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	3	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	3	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	3	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	3	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	6	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	8	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	36	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	36	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	11	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	17	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	10	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	6_G	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	18	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	3	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	2	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	3	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	3	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	2	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	3	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	2	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	36	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	34	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	37	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	11	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	11	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	11	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	11	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	6	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4_G	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	17	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	18_G	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	18	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	18	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	6	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	6	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	6	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	6	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	7	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	5	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Arg1020Gln	VAR_004092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004092	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	4	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	34	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	39	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	36	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	10	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	29	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	29	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	21	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	18	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	21	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	21	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	23	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	18	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	18	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	18	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	18	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	18	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	18	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	16	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	17	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	16	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	16	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	16	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	34	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	51	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	51	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	22	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	26	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	32	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	35	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	26	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	21	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	16	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	16	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	16	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	18	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	57	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	16	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	33	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	29	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	13	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	13	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	12	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	18	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	32	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	18	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	18	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	17	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	18	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	51	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	49	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	21	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	16	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	16	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	21	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	52	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	26	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	21	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	21	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	26	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	21	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	22	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	36	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	21	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	20	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	34	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	29	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	32	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	33	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	33	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	33	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	13	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	22	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	13	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	17	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	15	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	29	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	21	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	21	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	21	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	21	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	13	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	13	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	13	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	13	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	13	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	13	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	17	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	13	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	13	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	18	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	27	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	23	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	23	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	18	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	19	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	10	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	7	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	9	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	14	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	7	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	7	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	8	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	7	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	7	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	7	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Gly1035Val	VAR_004093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004093	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	3	smart00220	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	49	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	54	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	51	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	30	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	26	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	28	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	51	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	44	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	36	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	60	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	53	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	40	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	43	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	32	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	32	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	32	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	32	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	37	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	36	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	39	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	36	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	39	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	39	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	32	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	31	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	54	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	71	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	71	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	37	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	48	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	54	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	29	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	29	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	26	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	24	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	30	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	26	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	24	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	28	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	29	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	24	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	36	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	48	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	35	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	71	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	31	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	31	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	26	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	24	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	24	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	24	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	24	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	24	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	28	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	41	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	38	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	30	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	30	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	30	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	55	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	43	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	31	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	31	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	30	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	77	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	30	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	37	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	32	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	37	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	196	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	36	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	55	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	30	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	33	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	38	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	30	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	37_G	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	32	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	31	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	48	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	44	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	61	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	29	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	28	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	31	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	31	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	30	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	33	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	60	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	33	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	33	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	32	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	33	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	39	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	71	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	69	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	31	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	29	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	39	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	32	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	29	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	29	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	30	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	42	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	31	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	28	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	47	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	31	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	44	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	29	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	32	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	29	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	29	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	29	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	29	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	29	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	29	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	39	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	73	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	48	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	40	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	40	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	48	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	39	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	40	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	40	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	71	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	33	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	51	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	35	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	35	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	35	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	62	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	33	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	33	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	40	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	40	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	49	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	51	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	47	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	48	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	48	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	48	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	31	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	75	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	30	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	29	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	28	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	30	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	44	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	41	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	41	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	41	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	37	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	41	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	31	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	30	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	31	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	38	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	100	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	38	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	103	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	37	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	34	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	70	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	39	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	53	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	99	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	39	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	39	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	38	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	38	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	38	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	37	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	36	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	33	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	39	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	39	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	38	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	39	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	40	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	24	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	62	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	71	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	26	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	33	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	32	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	27	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	28	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	27	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	65	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	22	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Ala1055Val	VAR_015923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015923	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	59	smart00220	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	68	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	76	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	70	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	59	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	46	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	49	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	56	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	71	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	66	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	62_G	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	80	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	73	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	60	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	62_G	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	56	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	56	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	61	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	55	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	60	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	54	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	54	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	55	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	55	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	79	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	91	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	91	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	56	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	68	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	74	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	54	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	49	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	46	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	44	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	46	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	45	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	60	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	46	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	54	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	55	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	67	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	67	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	101	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	47	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	42_G	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	46	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	45	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	46	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	47	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	46	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	69	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	60	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	58	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	51	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	78	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	63	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	53	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	53	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	99	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	51	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	57	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	53	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	280	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	55	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	83	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	53	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	60	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	51	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	71	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	67	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	64	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	83	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	51	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	61_G	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	54	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	54	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	60	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	109	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	53	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	53	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	53	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	54	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	53	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	59	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	91	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	89	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	51	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	51	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	68	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	68	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	55	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	112	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	51	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	69_G	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	59	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	54	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	82_G	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	58	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	55	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	66	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	51	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	53	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	49	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	49	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	59	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	54	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	93	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	68	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	60	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	60	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	68	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	57	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	60	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	60	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	91	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	54	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	54	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	85	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	53	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	54	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	56	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	87	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	50	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	60	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	60	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	68	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	72	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	65	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	67	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	67	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	67	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	55	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	98	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	51	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	54	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	48	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	76	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	53	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	66	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	61	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	61	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	61	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	63_G	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	62	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	51	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	52	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	79	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	85	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	57	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	245	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	57	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	54	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	92	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	59	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	70	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	73	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	70	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	119	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	59	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	58	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	57	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	57	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	58	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	57	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	56	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	53	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	58	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	58	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	58	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	59	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	60	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	44	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	139	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	93	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	46	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	53	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	44	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	44	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	49	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	44	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	97	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	45	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Ala1075Asp	VAR_004094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004094	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	163	smart00220	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	112	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	115_G	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	114	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	100_G	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	89	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	90	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	118_G	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	116	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	105_G	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	102	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	124	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	128	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	103	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	121_G	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	94	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	94	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	93	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	94	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	102	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	98	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	113	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	101	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	106	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	98_G	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	98	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	102	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	101	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	125	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	136	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	148	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	105	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	113	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	119	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	98	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	93	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	90	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	88	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	94	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	90	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	87	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	95	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	114	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	90	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	97_G	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	99	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	111	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	111	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	157	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	94	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	95	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	90	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	93	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	91	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	91	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	91	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	91	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	90	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	113	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	103_G	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	103	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	96	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	107	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	95_G	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	134	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	110	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	97	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	97	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	99	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	146	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	91	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	101	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	99	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	95	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	447	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	99_G	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	146_G	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	95	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	98	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	119	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	104	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	95	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	109	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	96	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	109_G	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	109	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	135	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	96	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	99_G	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	121	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	96	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	100_G	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	97	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	105	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	153	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	94	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	96	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	98	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	93_G	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	94	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	104	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	143	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	134	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	95	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	95	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	107	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	96	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	113	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	121	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	94	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	94_G	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	93	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	170	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	94_G	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	110	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	96	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	99_G	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	98	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	94	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	135_G	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	104	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	101	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	120	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	95	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	92_G	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	93	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	104	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	88_G	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	93	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	94	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	97_G	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	94	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	93	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	101	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	98	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	187	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	113	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	100_G	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	100_G	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	113	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	111	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	104	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	104	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	137	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	98	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	104_G	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	95	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	122	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	97	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	96_G	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	104	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	130	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	92_G	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	95	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	94_G	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	92_G	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	94_G	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	94_G	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	96	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	92_G	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	94_G	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	100_G	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	104	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	110_G	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	124	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	115	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	108_G	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	109_G	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	112	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	118	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	147	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	97	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	101	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	94	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	135_G	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	97	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	110	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	107	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	107	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	107	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	102_G	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	112	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	100	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	101	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	100	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	165	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	260	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	149	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	97	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	398	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	99_G	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	100	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	137	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	103	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	114	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	117	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	116	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	163	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	105	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	102	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	101	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	101	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	102	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	99	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	97_G	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	98	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	102	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	102	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	102	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	103	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	104	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	88	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	293	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	137	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	91	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	99	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	90_G	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	87_G	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	93	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	87_G	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	131	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	90	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Arg1119Trp	VAR_015925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015925	- Leprechaunism [MIM:246200]	SWISS	335	smart00220	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	125	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	134	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	127	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	119	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	104	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	107	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	135	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	146	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	124	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	130	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	142	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	151	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	118	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	140_G	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	109	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	110	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	111	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	109	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	117	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	115	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	137	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	115	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	124	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	114	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	116	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	139	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	115	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	159	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	238	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	251	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	122	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	143	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	149	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	112	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	112	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	109	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	103	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	119	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	114	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	105	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	113	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	128	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	104	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	114	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	114	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	128	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	316	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	111	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	111	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	104	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	107	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	105	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	105	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	105	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	105	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	104	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	122	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	133	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	110	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	129_G	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	110	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	152	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	132	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	115	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	115	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	110	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	162	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	115	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	118	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	119	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	123	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	479	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	119	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	165	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	113	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	128	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	144	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	110	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	131	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	121	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	124	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	127	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	161	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	110	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	118	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	149	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	112	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	119	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	113	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	123	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	170	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	110	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	110	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	112	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	112	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	110	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	120	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	249	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	233	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	111	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	111	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	124	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	114	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	131	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	147	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	110	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	115	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	116	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	189	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	111	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	128_G	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	121	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	117	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	116	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	110	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	152	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	118	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	115	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	142	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	111	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	111	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	110_G	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	120	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	112	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	109	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	111	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	113	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	115	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	109	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	115	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	136	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	231	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	143	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	118	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	118	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	159	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	127	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	128	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	127	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	173	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	115	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	119	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	111	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	137	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	113	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	114	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	118	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	145	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	111	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	111	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	112	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	111	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	112	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	112	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	114	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	109	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	111	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	118	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	129	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	125	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	143	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	133	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	124	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	124	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	125	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	135	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	225	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	111	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	115	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	110	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	158	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	111	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	124	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	189	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	237	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	187	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	118	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	132	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	122	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	136	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	135	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	189	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	393	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	263	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	110	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	470	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	116	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	114	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	170	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	142	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	165	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	150	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	140	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	195	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	136	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	129	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	115	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	115	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	117	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	116	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	115	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	115	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	131	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	132	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	133	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	133	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	136	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	103	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	339	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	176	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	121	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	113	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	109	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	104	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	107	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	106	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	624	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	105	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Ile1143Thr	VAR_015926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015926	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	377	smart00220	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	140	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	149	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	142	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	134	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	119	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	122	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	150	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	161	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	139	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	145	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	162	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	166	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	133	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	155	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	124	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	125	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	126	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	124	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	132	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	130	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	152	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	130	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	139	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	129	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	131	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	154	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	130	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	176	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	263	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	266	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	137	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	158	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	164	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	127	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	127	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	124	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	118	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	134	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	129	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	120	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	128	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	143	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	120	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	129	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	129	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	143	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	141	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	333	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	126	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	126	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	119	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	122	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	120	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	120	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	120	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	135	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	119	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	141	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	134	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	148	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	125	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	142	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	125	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	167	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	147	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	130	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	130	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	125	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	178	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	130	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	133	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	134	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	139	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	556	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	134	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	129	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	143	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	172	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	142	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	126	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	146	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	136	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	139	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	143	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	176	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	125	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	133	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	164	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	127	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	134	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	128	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	139	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	186	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	125	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	125	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	127	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	127	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	125	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	135	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	264	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	248	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	126	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	126	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	139	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	156	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	147	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	167	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	125	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	130	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	131	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	205	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	126	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	141	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	134	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	132	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	131	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	125	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	167	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	133	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	130	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	158	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	126	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	126	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	123	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	135	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	127	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	124	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	126	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	128	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	126	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	124	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	130	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	151	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	246	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	158	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	133	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	133	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	174	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	142	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	143	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	142	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	188	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	130	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	134	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	126	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	152	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	128	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	129	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	133	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	160	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	126	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	126	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	127	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	126	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	127	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	127	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	129	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	124	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	126	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	133	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	144	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	140	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	158	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	148	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	139	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	139	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	140	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	150	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	240	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	126	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	130	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	125	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	126	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	139	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	204	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	252	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	202	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	133	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	147	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	137	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	151	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	150	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	215	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	421	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	280	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	125	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	536	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	131	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	130	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	157	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	165	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	155	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	210	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	151	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	144	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	130	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	130	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	132	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	131	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	130	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	127	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	146	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	147	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	148	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	148	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	151	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	118	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	365	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	192	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	136	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	128	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	124	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	119	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	122	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	121	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	640	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	120	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Gln	VAR_015927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015927	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	426	smart00220	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	140	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	149	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	142	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	134	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	119	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	122	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	150	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	161	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	139	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	145	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	162	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	166	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	133	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	155	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	124	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	125	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	124	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	132	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	130	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	152	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	130	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	139	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	129	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	131	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	154	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	130	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	176	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	263	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	266	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	137	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	158	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	164	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	127	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	127	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	124	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	118	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	134	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	129	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	120	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	128	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	143	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	120	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	129	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	129	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	143	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	141	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	333	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	119	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	122	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	120	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	120	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	120	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	135	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	119	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	141	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	134	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	148	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	125	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	142	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	125	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	167	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	147	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	130	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	130	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	125	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	178	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	130	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	133	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	134	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	139	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	556	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	134	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	181	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	129	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	143	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	172	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	142	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	146	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	136	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	139	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	143	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	176	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	125	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	133	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	164	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	127	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	134	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	128	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	139	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	186	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	125	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	125	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	127	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	127	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	125	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	135	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	264	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	248	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	139	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	156	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	147	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	167	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	125	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	130	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	131	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	205	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	141	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	134	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	132	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	131	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	125	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	167	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	133	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	130	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	158	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	123	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	135	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	127	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	124	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	128	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	124	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	130	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	151	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	246	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	158	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	133	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	133	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	174	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	142	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	143	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	142	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	188	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	130	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	134	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	152	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	128	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	129	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	133	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	160	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	127	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	127	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	127	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	129	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	124	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	133	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	144	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	140	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	158	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	148	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	139	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	139	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	140	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	150	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	240	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	130	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	125	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	173	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	126	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	139	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	204	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	252	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	202	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	133	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	147	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	137	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	151	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	150	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	215	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	421	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	280	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	125	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	536	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	131	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	130	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	185	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	157	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	180	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	165	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	155	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	210	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	151	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	144	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	130	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	130	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	132	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	131	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	130	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	127	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	146	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	147	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	148	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	148	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	151	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	118	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	365	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	192	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	136	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	128	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	124	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	119	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	122	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	121	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	640	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	120	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Arg1158Trp	VAR_015928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015928	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	426	smart00220	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	143	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	152	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	145	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	137	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	122	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	125	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	153	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	164	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	142	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	148	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	165	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	169	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	136	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	158	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	127	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	128	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	127	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	135	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	155	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	142	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	132	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	134	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	157	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	179	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	266	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	269	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	140	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	161	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	167	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	127	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	121	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	137	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	132	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	123	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	131	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	146	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	123	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	132	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	132	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	146	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	144	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	336	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	122	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	125	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	123	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	123	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	123	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	138	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	122	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	144	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	137	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	151	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	128	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	145	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	128	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	170	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	150	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	128	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	181	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	136	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	137	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	142	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	559	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	137	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	184	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	132	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	146	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	175	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	145	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	149	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	139	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	142	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	146	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	179	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	128	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	136	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	167	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	137	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	131	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	142	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	189	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	128	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	128	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	128	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	138	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	267	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	251	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	142	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	166	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	150	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	170	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	128	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	134	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	208	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	144	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	137	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	135	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	134	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	128	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	170	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	136	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	161	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	126	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	138	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	127	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	131	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	127	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	154	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	249	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	161	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	136	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	136	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	177	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	145	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	146	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	145	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	191	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	137	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	155	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	131	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	132	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	136	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	163	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	132	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	127	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	136	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	147	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	143	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	161	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	151	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	142	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	142	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	143	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	153	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	243	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	128	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	176	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	142	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	207	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	255	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	205	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	136	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	150	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	140	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	154	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	153	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	218	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	424	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	283	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	128	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	539	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	134	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	188	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	160	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	183	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	168	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	158	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	213	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	154	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	147	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	135	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	134	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	149	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	150	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	151	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	151	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	154	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	121	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	368	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	195	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	139	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	131	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	127	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	122	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	125	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	124	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	643	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	123	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Ala1161Thr	VAR_004095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004095	rs28933084 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	429	smart00220	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	144	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	153	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	146	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	138	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	123	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	126	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	154	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	165	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	143	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	149	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	166	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	170	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	137	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	159	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	128	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	128	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	136	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	134	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	156	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	134	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	143	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	135	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	158	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	134	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	180	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	267	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	270	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	141	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	162	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	168	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	131	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	131	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	128	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	122	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	138	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	124	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	132	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	147	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	124	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	147	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	145	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	337	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	123	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	126	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	124	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	124	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	124	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	139	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	123	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	145	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	138	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	152	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	146	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	171	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	151	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	134	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	134	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	182	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	134	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	137	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	138	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	143	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	585	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	138	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	185	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	147	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	176	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	146	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	150	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	140	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	143	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	147	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	180	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	137	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	168	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	131	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	138	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	132	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	143	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	190	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	131	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	131	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	139	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	268	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	252	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	143	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	167	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	151	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	171	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	134	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	135	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	209	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	145	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	138	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	136	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	135	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	171	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	137	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	134	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	162	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	127	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	139	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	131	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	128	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	132	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	128	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	134	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	155	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	250	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	162	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	137	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	137	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	178	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	146	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	147	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	146	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	192	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	134	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	138	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	156	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	132	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	137	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	164	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	131	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	131	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	131	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	133	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	128	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	137	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	148	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	144	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	162	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	152	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	143	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	143	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	144	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	154	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	244	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	134	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	177	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	130	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	143	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	208	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	256	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	206	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	137	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	151	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	141	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	155	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	154	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	219	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	425	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	284	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	129	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	540	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	135	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	134	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	189	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	161	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	184	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	169	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	159	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	214	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	155	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	148	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	134	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	134	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	136	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	135	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	134	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	131	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	150	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	151	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	152	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	152	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	155	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	122	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	369	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	196	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	140	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	132	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	128	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	123	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	126	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	125	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	644	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	124	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Ala1162Glu	VAR_004096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004096	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	430	smart00220	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	162	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	171	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	164	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	156	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	141	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	144	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	183	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	161	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	167	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	184	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	191	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	155	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	177	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	146	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	147	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	148	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	146	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	154	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	152	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	178	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	152	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	161	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	151	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	153	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	176	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	152	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	198	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	285	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	288	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	160	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	186	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	154	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	149	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	146	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	140	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	163	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	151	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	142	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	154	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	165	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	142	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	151	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	152	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	366	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	156	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	148	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	141	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	144	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	142	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	142	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	142	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	157	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	141	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	163	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	156	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	147	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	165	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	155	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	189	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	152	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	152	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	147	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	200	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	152	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	155	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	160	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	162	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	666	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	156	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	203	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	151	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	165	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	195	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	169	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	148	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	158	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	161	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	165	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	222	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	147	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	155	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	196	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	149	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	157	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	150	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	161	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	208	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	147	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	147	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	149	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	149	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	147	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	157	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	286	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	270	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	148	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	148	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	166	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	217	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	169	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	206	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	147	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	155	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	156	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	236	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	148	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	163	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	157	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	154	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	152	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	148	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	192	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	155	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	152	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	148	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	148	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	145	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	157	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	149	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	146	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	148	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	150	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	148	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	146	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	152	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	268	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	155	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	155	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	196	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	164	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	165	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	167	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	210	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	152	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	156	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	148	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	174	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	150	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	151	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	155	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	182	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	148	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	148	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	149	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	148	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	153	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	149	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	151	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	146	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	148	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	155	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	166	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	162	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	161	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	161	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	162	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	262	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	152	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	162	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	153	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	196	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	149	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	161	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	226	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	274	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	224	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	155	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	169	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	159	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	257	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	459	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	321	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	147	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	624	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	153	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	152	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	211	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	213	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	187	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	177	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	232	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	178	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	166	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	152	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	152	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	154	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	154	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	152	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	149	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	168	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	169	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	140	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	446	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	214	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	158	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	150	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	146	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	141	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	144	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	143	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	662	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	147	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Met1180Ile	VAR_004097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004097	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	531	smart00220	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	173	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	181_G	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	175	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	173	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	153	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	155	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	183	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	194	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	171_G	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	178	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	201	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	209	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	166	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	188	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	157	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	158	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	159	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	157	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	166	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	166	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	190	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	163	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	173	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	162	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	166	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	185_G	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	162	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	198_G	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	296	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	299	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	171	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	191	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	197	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	166	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	160	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	157	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	151	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	174	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	162	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	153	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	166	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	179	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	151	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	162	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	165	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	185_G	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	177	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	386	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	166_G	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	160	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	153	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	147_G	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	153	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	153	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	153	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	168	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	152	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	174	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	167	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	178	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	158	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	174	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	166	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	200	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	181	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	163	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	163	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	162_G	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	227_G	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	165	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	165	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	175_G	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	171	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	728	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	166	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	217	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	160	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	173	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	206	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	185_G	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	166_G	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	215	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	169	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	172	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	177	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	242	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	163	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	179	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	200_G	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	168	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	168	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	162	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	175_G	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	222	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	158	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	158	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	160	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	162	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	158	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	168	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	297	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	281	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	159	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	158	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	181	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	237_G	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	180	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	234_G	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	158	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	167	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	168	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	252	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	159	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	174	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	167	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	165	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	163	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	159	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	254	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	167	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	160	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	200	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	158	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	159	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	149_G	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	165	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	158	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	155	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	157	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	160	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	158	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	157	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	163	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	184	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	279	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	191	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	168	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	168	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	207	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	175	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	176	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	179	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	221	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	163	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	170	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	160	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	190	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	161	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	166	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	166	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	194	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	160	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	159	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	161	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	160	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	171	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	161	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	164	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	152	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	159	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	168	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	177	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	171	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	188_G	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	181	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	170	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	172	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	173	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	200	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	388	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	155_G	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	172_G	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	173	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	207	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	161	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	171_G	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	238	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	286	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	236	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	166	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	180	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	170	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	184	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	182	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	286	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	527	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	335	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	156	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	696	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	165	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	170_G	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	222	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	190	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	224	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	198	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	188	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	242_G	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	189	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	177	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	163	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	163	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	168	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	165	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	166	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	160	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	179	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	180	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	181	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	181	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	184	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	151	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	615	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	219_G	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	166	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	161	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	160	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	154	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	151	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	154	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	712	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	242	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Arg1191Gln	VAR_004098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004098	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	633	smart00220	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	181	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	186	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	183	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	178	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	163	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	163	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	195	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	204	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	176	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	188	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	210	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	212	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	176	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	213	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	166	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	167	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	168	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	166	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	176	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	174	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	200	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	173	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	181_G	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	170_G	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	172_G	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	194	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	174	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	207	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	306	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	309	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	179	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	201	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	207	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	174	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	171	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	167	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	161	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	184	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	172	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	163	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	178	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	187	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	161	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	174	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	173_G	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	190	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	185_G	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	396	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	171	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	170	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	163	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	153	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	161	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	161	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	161	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	177	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	160	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	182	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	175	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	188	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	163	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	184	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	176	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	208_G	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	194	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	171	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	171	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	166	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	227_G	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	171	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	177	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	175_G	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	179	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	802	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	175	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	294	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	169_G	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	183	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	219	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	185_G	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	166_G	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	215_G	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	179	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	180	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	183_G	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	242_G	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	171_G	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	179_G	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	205	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	176_G	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	170	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	168_G	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	179_G	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	230	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	166_G	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	166_G	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	168	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	168	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	166_G	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	176	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	307	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	291	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	166	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	166	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	186	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	237_G	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	188	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	234_G	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	166	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	173_G	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	178	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	277	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	166	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	192	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	175_G	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	181	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	171	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	167	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	254_G	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	181	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	170	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	205_G	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	167_G	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	166	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	154	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	175	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	168	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	165	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	167	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	170	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	169_G	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	165	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	171	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	194	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	289	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	201	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	176	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	176	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	217	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	185	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	186	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	189	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	231	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	171	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	188	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	168	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	192	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	170	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	171	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	176	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	204	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	168	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	168	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	169	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	168	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	179	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	169	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	174	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	162	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	164	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	176	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	187	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	181	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	198	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	189_G	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	180	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	180	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	181_G	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	216	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	402	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	169	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	172_G	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	173_G	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	217	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	196	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	176	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	247	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	296	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	245	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	192	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	190	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	180	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	194	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	192	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	294	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	552	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	347	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	166	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	768	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	175	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	170_G	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	237	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	200	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	234	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	208	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	198	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	252	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	199	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	187	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	171	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	171	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	176	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	174	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	176	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	168	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	189	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	197	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	191	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	191	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	194	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	160	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	625	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	228	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	176	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	171	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	165_G	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	159_G	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	161	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	162	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	722	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	259	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Familial hyperinsulinemic hypoglycemia type 5 (HHF5) [MIM:609968]	SWISS	705	smart00220	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	181	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	186	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	183	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	178	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	163	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	163	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	195	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	204	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	176	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	188	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	210	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	212	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	176	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	213	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	166	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	167	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	168	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	166	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	176	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	174	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	200	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	173	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	181_G	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	170_G	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	172_G	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	194	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	174	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	207	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	306	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	309	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	179	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	201	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	207	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	174	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	171	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	167	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	161	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	184	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	172	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	163	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	178	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	187	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	161	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	174	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	173_G	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	190	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	185_G	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	396	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	171	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	170	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	163	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	153	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	161	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	161	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	161	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	177	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	160	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	182	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	175	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	188	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	163	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	184	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	176	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	208_G	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	194	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	171	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	171	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	166	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	227_G	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	171	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	177	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	175_G	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	179	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	802	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	175	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	294	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	169_G	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	183	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	219	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	185_G	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	166_G	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	215_G	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	179	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	180	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	183_G	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	242_G	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	171_G	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	179_G	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	205	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	176_G	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	170	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	168_G	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	179_G	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	230	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	166_G	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	166_G	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	168	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	168	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	166_G	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	176	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	307	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	291	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	166	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	166	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	186	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	237_G	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	188	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	234_G	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	166	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	173_G	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	178	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	277	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	166	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	192	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	175_G	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	181	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	171	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	167	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	254_G	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	181	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	170	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	205_G	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	167_G	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	166	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	154	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	175	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	168	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	165	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	167	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	170	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	169_G	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	165	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	171	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	194	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	289	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	201	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	176	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	176	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	217	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	185	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	186	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	189	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	231	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	171	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	188	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	168	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	192	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	170	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	171	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	176	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	204	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	168	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	168	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	169	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	168	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	179	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	169	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	174	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	162	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	164	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	176	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	187	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	181	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	198	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	189_G	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	180	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	180	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	181_G	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	216	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	402	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	169	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	172_G	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	173_G	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	217	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	196	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	176	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	247	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	296	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	245	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	192	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	190	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	180	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	194	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	192	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	294	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	552	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	347	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	166	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	768	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	175	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	170_G	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	237	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	200	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	234	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	208	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	198	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	252	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	199	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	187	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	171	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	171	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	176	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	174	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	176	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	168	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	189	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	197	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	191	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	191	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	194	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	160	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	625	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	228	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	176	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	171	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	165_G	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	159_G	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	161	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	162	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	722	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	259	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Gln	VAR_015929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015929	rs28933086 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	705	smart00220	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	181	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	186	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	183	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	178	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	163	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	163	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	195	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	204	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	176	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	188	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	210	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	212	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	176	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	213	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	166	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	167	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	168	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	166	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	176	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	174	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	200	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	173	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	181_G	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	170_G	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	172_G	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	194	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	174	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	207	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	306	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	309	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	179	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	201	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	207	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	174	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	171	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	167	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	161	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	184	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	172	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	163	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	178	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	187	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	161	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	174	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	173_G	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	190	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	185_G	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	396	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	171	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	170	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	163	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	153	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	161	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	161	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	161	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	177	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	160	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	182	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	175	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	188	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	163	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	184	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	176	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	208_G	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	194	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	171	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	171	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	166	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	227_G	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	171	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	177	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	175_G	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	179	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	802	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	175	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	294	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	169_G	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	183	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	219	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	185_G	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	166_G	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	215_G	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	179	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	180	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	183_G	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	242_G	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	171_G	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	179_G	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	205	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	176_G	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	170	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	168_G	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	179_G	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	230	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	166_G	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	166_G	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	168	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	168	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	166_G	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	176	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	307	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	291	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	166	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	166	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	186	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	237_G	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	188	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	234_G	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	166	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	173_G	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	178	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	277	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	166	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	192	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	175_G	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	181	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	171	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	167	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	254_G	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	181	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	170	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	205_G	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	167_G	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	166	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	154	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	175	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	168	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	165	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	167	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	170	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	169_G	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	165	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	171	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	194	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	289	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	201	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	176	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	176	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	217	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	185	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	186	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	189	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	231	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	171	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	188	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	168	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	192	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	170	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	171	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	176	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	204	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	168	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	168	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	169	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	168	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	179	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	169	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	174	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	162	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	164	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	176	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	187	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	181	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	198	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	189_G	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	180	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	180	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	181_G	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	216	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	402	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	169	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	172_G	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	173_G	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	217	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	196	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	176	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	247	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	296	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	245	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	192	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	190	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	180	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	194	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	192	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	294	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	552	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	347	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	166	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	768	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	175	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	170_G	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	237	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	200	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	234	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	208	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	198	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	252	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	199	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	187	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	171	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	171	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	176	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	174	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	176	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	168	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	189	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	197	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	191	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	191	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	194	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	160	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	625	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	228	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	176	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	171	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	165_G	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	159_G	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	161	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	162	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	722	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	259	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Leprechaunism [MIM:246200]	SWISS	705	smart00220	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	181	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	186	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	183	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	178	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	163	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	163	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	195	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	204	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	176	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	188	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	210	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	212	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	176	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	213	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	166	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	167	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	168	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	166	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	176	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	174	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	200	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	173	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	181_G	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	170_G	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	172_G	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	194	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	174	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	207	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	306	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	309	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	179	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	201	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	207	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	174	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	171	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	167	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	161	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	184	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	172	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	163	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	178	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	187	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	161	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	174	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	173_G	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	190	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	185_G	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	396	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	171	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	170	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	163	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	153	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	161	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	161	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	161	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	177	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	160	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	182	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	175	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	188	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	163	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	184	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	176	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	208_G	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	194	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	171	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	171	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	166	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	227_G	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	171	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	177	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	175_G	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	179	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	802	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	175	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	294	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	169_G	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	183	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	219	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	185_G	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	166_G	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	215_G	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	179	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	180	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	183_G	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	242_G	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	171_G	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	179_G	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	205	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	176_G	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	170	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	168_G	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	179_G	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	230	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	166_G	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	166_G	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	168	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	168	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	166_G	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	176	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	307	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	291	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	166	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	166	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	186	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	237_G	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	188	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	234_G	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	166	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	173_G	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	178	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	277	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	166	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	192	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	175_G	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	181	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	171	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	167	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	254_G	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	181	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	170	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	205_G	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	167_G	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	166	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	154	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	175	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	168	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	165	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	167	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	170	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	169_G	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	165	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	171	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	194	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	289	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	201	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	176	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	176	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	217	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	185	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	186	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	189	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	231	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	171	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	188	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	168	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	192	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	170	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	171	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	176	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	204	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	168	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	168	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	169	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	168	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	179	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	169	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	174	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	162	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	164	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	176	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	187	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	181	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	198	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	189_G	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	180	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	180	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	181_G	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	216	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	402	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	169	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	172_G	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	173_G	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	217	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	196	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	176	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	247	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	296	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	245	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	192	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	190	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	180	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	194	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	192	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	294	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	552	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	347	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	166	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	768	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	175	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	170_G	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	237	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	200	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	234	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	208	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	198	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	252	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	199	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	187	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	171	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	171	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	176	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	174	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	176	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	168	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	189	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	197	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	191	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	191	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	194	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	160	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	625	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	228	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	176	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	171	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	165_G	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	159_G	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	161	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	162	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	722	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	259	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Arg1201Trp	VAR_015930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015930	- Rabson-Mendenhall syndrome (RMS) [MIM:262190]	SWISS	705	smart00220	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	190	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	187	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	182	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	167	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	167	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	199	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	208	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	192	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	214	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	216	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	218	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	171	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	172	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	178	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	204	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	178	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	174	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	176	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	202	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	178	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	223	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	310	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	313	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	183	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	205	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	211	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	178	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	175	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	171	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	165	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	188	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	176	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	167	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	182	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	191	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	165	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	178	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	177	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	194	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	189	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	400	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	175	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	174	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	167	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	167	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	165	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	165	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	165	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	164	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	186	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	192	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	167	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	188	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	186	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	212	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	198	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	175	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	175	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	171	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	230	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	176	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	178	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	183	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	806	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	307	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	187	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	223	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	188	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	169	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	217	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	191	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	184	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	187	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	244	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	175	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	213	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	182	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	172	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	183	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	234	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	172	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	172	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	311	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	295	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	191	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	240	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	192	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	237	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	177	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	212	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	285	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	196	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	175	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	171	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	256	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	186	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	178	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	209	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	171	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	158	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	172	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	169	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	171	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	174	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	169	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	175	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	198	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	293	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	205	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	221	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	189	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	190	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	193	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	235	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	175	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	193	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	172	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	206	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	174	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	175	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	208	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	172	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	172	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	172	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	183	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	178	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	166	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	168	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	191	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	203	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	193	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	184	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	184	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	218	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	406	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	175	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	175	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	230	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	204	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	251	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	300	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	249	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	197	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	194	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	184	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	198	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	196	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	298	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	556	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	354	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	772	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	241	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	204	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	238	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	212	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	202	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	256	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	203	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	191	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	175	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	175	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	178	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	172	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	193	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	201	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	195	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	195	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	198	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	164	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	629	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	240	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	169	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	163	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	165	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	166	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	738	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	712	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Pro1205Leu	VAR_004099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004099	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	709	smart00220	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	186	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	191	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	188	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	183	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	168	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	168	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	200	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	209	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	193	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	215	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	217	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	219	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	171	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	172	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	171	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	205	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	186	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	177	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	203	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	224	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	311	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	314	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	184	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	206	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	212	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	176	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	172	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	166	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	189	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	177	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	168	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	183	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	192	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	166	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	178	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	195	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	190	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	401	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	176	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	175	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	168	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	168	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	166	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	166	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	166	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	182	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	165	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	187	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	193	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	168	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	189	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	187	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	213	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	199	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	176	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	176	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	172	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	231	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	177	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	182	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	184	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	807	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	308	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	174	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	188	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	224	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	189	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	218	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	192	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	188	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	245	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	176	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	182	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	214	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	183	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	184	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	235	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	171	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	171	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	171	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	312	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	296	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	171	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	171	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	192	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	241	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	193	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	238	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	171	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	178	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	213	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	286	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	171	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	197	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	186	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	176	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	172	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	257	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	187	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	210	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	172	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	171	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	159	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	172	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	175	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	174	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	176	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	199	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	294	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	206	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	222	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	190	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	191	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	194	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	236	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	176	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	194	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	207	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	175	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	176	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	182	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	209	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	174	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	184	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	174	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	167	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	169	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	192	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	186	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	204	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	194	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	186	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	219	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	407	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	174	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	176	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	176	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	231	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	205	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	252	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	301	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	250	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	198	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	195	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	199	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	197	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	303	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	557	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	355	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	171	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	773	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	174	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	242	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	205	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	239	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	213	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	203	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	257	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	204	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	192	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	176	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	176	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	173	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	194	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	202	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	196	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	196	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	199	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	165	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	630	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	241	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	170	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	164	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	166	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	167	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	739	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	713	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Asp	VAR_015931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015931	- Insulin resistance (Ins resistance) [MIM:125853]	SWISS	710	smart00220	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	186	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	191	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	188	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	183	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	168	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	168	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	200	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	209	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	181	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	193	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	215	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	217	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	181	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	219	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	171	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	172	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	173	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	171	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	181	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	179	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	205	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	179	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	186	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	180	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	177	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	203	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	179	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	224	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	311	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	314	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	184	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	206	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	212	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	179	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	176	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	172	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	166	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	189	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	177	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	168	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	183	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	192	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	166	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	179	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	178	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	195	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	190	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	401	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	176	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	175	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	168	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	168	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	166	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	166	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	166	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	182	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	165	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	187	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	185	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	193	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	168	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	189	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	187	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	213	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	199	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	176	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	176	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	172	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	231	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	177	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	182	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	179	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	184	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	807	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	180	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	308	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	174	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	188	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	224	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	189	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	170	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	218	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	192	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	185	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	188	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	245	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	176	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	182	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	214	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	181	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	183	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	173	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	184	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	235	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	171	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	171	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	173	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	173	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	171	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	181	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	312	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	296	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	171	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	171	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	192	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	241	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	193	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	238	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	171	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	178	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	213	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	286	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	171	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	197	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	180	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	186	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	176	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	172	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	257	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	187	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	179	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	210	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	172	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	171	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	159	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	180	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	173	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	170	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	172	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	175	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	174	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	170	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	176	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	199	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	294	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	206	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	181	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	181	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	222	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	190	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	191	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	194	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	236	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	176	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	194	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	173	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	207	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	175	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	176	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	182	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	209	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	173	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	173	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	174	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	173	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	184	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	174	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	179	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	167	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	169	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	181	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	192	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	186	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	204	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	194	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	185	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	185	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	186	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	219	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	407	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	174	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	176	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	176	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	231	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	205	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	181	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	252	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	301	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	250	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	198	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	195	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	185	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	199	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	197	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	303	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	557	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	355	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	171	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	773	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	180	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	174	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	242	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	205	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	239	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	213	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	203	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	257	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	204	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	192	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	176	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	176	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	181	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	179	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	181	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	173	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	194	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	202	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	196	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	196	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	199	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	165	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	630	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	241	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	181	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	180	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	170	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	164	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	166	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	167	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	739	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	713	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Glu1206Lys	VAR_015932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015932	- Leprechaunism [MIM:246200]	SWISS	710	smart00220	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	200	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	208	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	202	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	200	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	182	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	182	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	215	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	223	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	198	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	208	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	229	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	231	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	195	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	234	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	186	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	187	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	195	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	193	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	222	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	193	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	204	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	194	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	191	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	217	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	194	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	238	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	325	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	328	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	200	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	220	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	226	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	193	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	197	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	193	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	203	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	198	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	182	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	197	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	210	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	193	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	193	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	215	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	206	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	422	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	191	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	189	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	182	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	182	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	180	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	196	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	201	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	199	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	207	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	182	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	204	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	201	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	237	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	215	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	190	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	190	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	187	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	247	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	192	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	196	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	193	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	209	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	876	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	194	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	329	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	192	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	202	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	243	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	208	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	184	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	244	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	208	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	199	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	207	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	260	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	195	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	197	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	239	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	197	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	198	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	189	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	202	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	249	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	193	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	188	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	200	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	326	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	310	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	207	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	257	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	207	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	253	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	192	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	229	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	330	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	222	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	194	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	200	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	190	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	186	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	273	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	202	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	193	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	229	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	186	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	184	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	194	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	188	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	187	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	190	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	188	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	184	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	190	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	213	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	308	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	220	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	195	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	195	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	236	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	205	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	205	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	208	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	250	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	190	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	209	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	187	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	222	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	189	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	190	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	198	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	223	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	187	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	187	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	188	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	187	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	198	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	188	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	193	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	183	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	195	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	206	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	200	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	220	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	213	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	199	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	199	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	200	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	233	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	435	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	196	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	190	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	191	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	284	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	231	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	198	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	266	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	315	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	264	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	213	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	209	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	199	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	213	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	212	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	336	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	573	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	381	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	839	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	194	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	190	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	256	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	219	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	253	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	227	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	217	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	271	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	218	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	206	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	193	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	193	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	195	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	193	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	195	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	192	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	208	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	216	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	210	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	210	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	213	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	669	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	255	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	195	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	194	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	185	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	179	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	181	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	796	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	728	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Trp1220Leu	VAR_004100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004100	rs52800171 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	778	smart00220	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	207	cd06657	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	215	cd06635	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	209	cd06658	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	207	cd06629	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	189	cd05115	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	189	cd05582	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	222	cd07854	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	230	cd05101	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	205	cd06634	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	215	cd07845	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	236	cd05033	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	238	cd05043	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	202	cd05111	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	241	cd07866	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	192	cd05114	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	193	cd05113	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	194	cd05059	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	192	cd05112	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	202	cd05081	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	200	cd05066	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	229	cd05038	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	200	cd06653	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	211	cd06612	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	201	cd06611	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	198	cd08224	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	224	cd06652	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	201	cd06625	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	245	cd06614	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	332	cd05055	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	335	cd05107	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	207	cd06624	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	227	cd05100	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	233	cd05098	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	200	cd06630	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	204	cd05042	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	200	cd05086	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	187	cd05084	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	210	cd05044	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	205	cd05087	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	189	cd05041	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	204	cd05040	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	218	cd06632	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	187	cd05571	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	200	cd05058	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	200	cd05077	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	222	cd05037	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	213	cd05076	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	429	cd00192	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	198	cd05078	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	196	cd05060	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	189	cd05116	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	189	cd05570	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	187	cd05591	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	187	cd05590	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	187	cd05619	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	203	cd05592	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	186	cd05593	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	208	cd06659	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	206	cd06644	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	214	cd05088	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	189	cd05612	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	211	cd07837	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	208	cd05609	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	240_G	cd06608	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	222	cd06609	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	197	cd08228	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	197	cd08229	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	194	cd07846	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	254	cd05580	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	199	cd07847	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	203	cd05079	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	200	cd06621	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	216	cd06622	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	917	COG0515	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	201	cd07862	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	336	cd05573	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	199	cd06617	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	209	cd05089	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	250	cd06623	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	215	cd06605	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	191	cd06615	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	251	cd07833	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	215	cd06610	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	206	cd06655	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	214	cd06618	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	267	cd07830	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	202	cd05578	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	204	cd05118	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	246	cd07829	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	200_G	cd08216	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	205	cd06917	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	196	cd07844	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	209	cd06616	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	256	cd05057	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	192	cd06641	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	192	cd06640	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	200	cd06613	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	195	cd07870	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	192	cd06642	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	207	cd06637	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	333	cd05105	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	317	cd05104	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	192	cd05605	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	192	cd05630	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	214	cd07832	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	264	cd08217	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	214	cd08528	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	260	cd08215	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	192	cd08218	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	199	cd08530	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	236	cd06627	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	337	cd06606	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	192	cd05631	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	229	cd07841	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	201	cd08220	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	207	cd06628	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	197	cd08222	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	193	cd08225	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	280	cd07834	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	209	cd07857	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	200	cd06651	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	236	cd05122	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	193	cd08223	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	192	cd05632	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	191	cd07839	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	201	cd07863	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	195	cd07836	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	192	cd07860	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	194	cd07861	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	197	cd07853	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	195	cd08221	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	191	cd08219	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	197	cd05587	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	220	cd05045	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	315	cd05106	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	227	cd05099	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	202	cd05108	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	202	cd05110	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	243	cd05053	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	212	cd07864	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	212	cd05062	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	215	cd05036	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	257	cd05032	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	197	cd05039	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	216	cd07849	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	194	cd05071	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	263	cd07855	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	196	cd05052	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	197	cd05148	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	205	cd07858	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	230	cd05056	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	194	cd05069	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	194	cd05067	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	195	cd05073	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	194	cd05070	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	205	cd05034	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	195	cd05072	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	200	cd05068	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	188	cd05083	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	190	cd05082	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	202	cd05109	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	213	cd05061	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	207	cd06654	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	227	cd07851	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	220	cd06638	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	206	cd06647	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	206	cd06656	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	207	cd06648	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	240	cd07838	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	442	cd05581	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	203	cd05601	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	197	cd08529	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	198	cd07831	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	291	cd07840	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	238	cd06626	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	205	cd06607	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	273	cd05103	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	322	cd05054	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	271	cd05102	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	220	cd07852	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	216	cd05035	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	206	cd05074	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	220	cd05075	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	219	cd07835	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	343	pfam00069	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	581	smart00219	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	388	pfam07714	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	192	cd05589	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	857	smart00221	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	201	cd05080	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	197	cd06620	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	263	cd05051	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	226	cd05050	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	260	cd05096	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	234	cd05095	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	224	cd05097	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	278	cd05046	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	225	cd05049	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	213	cd05093	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	200	cd06646	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	200	cd06645	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	202	cd05063	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	200	cd05064	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	202	cd05065	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	199	cd06643	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	215	cd05092	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	223	cd05094	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	217	cd05090	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	217	cd05091	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	220	cd05048	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	186	cd05085	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	676	cd00180	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	262	cd05572	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	202	cd05047	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	201	cd06631	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	192	cd05577	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	186	cd05607	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	188	cd05606	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	188	cd05608	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	803	cd05123	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	735	cd05579	119395736,NP_000199
3643	308153655	Disease	p.Trp1227Ser	VAR_004101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004101	- Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]	SWISS	785	smart00220	119395736,NP_000199
3643	308153655	Disease	p.Arg1378Gln	VAR_015934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015934	rs52826008 Insulin resistance (Ins resistance) [MIM:125853]	SWISS	1403	COG0515	119395736,NP_000199
27130	68565551	Disease	p.Pro482Arg	VAR_022822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022822	- Nephronophthisis type 2 (NPHP2) [MIM:602088]	SWISS	51	smart00248	34304381,NP_055240
27130	68565551	Disease	p.Pro482Arg	VAR_022822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022822	- Nephronophthisis type 2 (NPHP2) [MIM:602088]	SWISS	54	pfam00023	34304381,NP_055240
27130	68565551	Disease	p.Pro482Arg	VAR_022822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022822	- Nephronophthisis type 2 (NPHP2) [MIM:602088]	SWISS	198	cd00204	34304381,NP_055240
27130	68565551	Disease	p.Pro482Arg	VAR_022822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022822	- Nephronophthisis type 2 (NPHP2) [MIM:602088]	SWISS	392	COG0666	34304381,NP_055240
27130	68565551	Disease	p.Leu493Ser	VAR_022823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022823	- Nephronophthisis type 2 (NPHP2) [MIM:602088]	SWISS	6	smart00248	34304381,NP_055240
27130	68565551	Disease	p.Leu493Ser	VAR_022823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022823	- Nephronophthisis type 2 (NPHP2) [MIM:602088]	SWISS	6	pfam00023	34304381,NP_055240
27130	68565551	Disease	p.Leu493Ser	VAR_022823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022823	- Nephronophthisis type 2 (NPHP2) [MIM:602088]	SWISS	258	cd00204	34304381,NP_055240
27130	68565551	Disease	p.Leu493Ser	VAR_022823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022823	- Nephronophthisis type 2 (NPHP2) [MIM:602088]	SWISS	425	COG0666	34304381,NP_055240
23096	74742276	Disease	p.Arg349Cys	VAR_063742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063742	- Mental retardation X-linked type 1 (MRX1) [MIM:309530]	SWISS	No Domain	N/A	NULL
23096	74742276	Disease	p.Arg748Gln	VAR_063743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063743	- Mental retardation X-linked type 1 (MRX1) [MIM:309530]	SWISS	6	cd00171	NULL
23096	74742276	Disease	p.Arg748Gln	VAR_063743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063743	- Mental retardation X-linked type 1 (MRX1) [MIM:309530]	SWISS	36	pfam01369	NULL
23096	74742276	Disease	p.Arg748Gln	VAR_063743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063743	- Mental retardation X-linked type 1 (MRX1) [MIM:309530]	SWISS	7	smart00222	NULL
23096	74742276	Disease	p.Gln791Pro	VAR_063744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063744	- Mental retardation X-linked type 1 (MRX1) [MIM:309530]	SWISS	76	cd00171	NULL
23096	74742276	Disease	p.Gln791Pro	VAR_063744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063744	- Mental retardation X-linked type 1 (MRX1) [MIM:309530]	SWISS	234	pfam01369	NULL
23096	74742276	Disease	p.Gln791Pro	VAR_063744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063744	- Mental retardation X-linked type 1 (MRX1) [MIM:309530]	SWISS	106	smart00222	NULL
23096	74742276	Disease	p.Arg853Trp	VAR_063745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063745	- Mental retardation X-linked type 1 (MRX1) [MIM:309530]	SWISS	139	cd00171	NULL
23096	74742276	Disease	p.Arg853Trp	VAR_063745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063745	- Mental retardation X-linked type 1 (MRX1) [MIM:309530]	SWISS	396	pfam01369	NULL
23096	74742276	Disease	p.Arg853Trp	VAR_063745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063745	- Mental retardation X-linked type 1 (MRX1) [MIM:309530]	SWISS	171	smart00222	NULL
3664	3122293	Disease	p.Ala2Val	VAR_014961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014961	rs28942093 Van der Woude syndrome (VWS) [MIM:119300]	SWISS	No Domain	N/A	5453700,NP_006138
3664	3122293	Disease	p.Arg6Cys	VAR_030046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030046	rs28942094 Van der Woude syndrome (VWS) [MIM:119300]	SWISS	No Domain	N/A	5453700,NP_006138
3664	3122293	Disease	p.Ala16Val	VAR_030047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030047	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	10	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Ala16Val	VAR_030047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030047	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	10	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Ala16Val	VAR_030047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030047	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	8	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Val18Ala	VAR_014962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014962	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	12	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Val18Ala	VAR_014962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014962	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	12	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Val18Ala	VAR_014962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014962	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	10	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Val18Met	VAR_014963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014963	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	12	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Val18Met	VAR_014963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014963	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	12	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Val18Met	VAR_014963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014963	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	10	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Leu22Pro	VAR_030048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030048	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	16	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Leu22Pro	VAR_030048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030048	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	16	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Leu22Pro	VAR_030048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030048	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	14	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Leu22Pro	VAR_030048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030048	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	16	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Leu22Pro	VAR_030048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030048	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	16	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Leu22Pro	VAR_030048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030048	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	14	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Pro39Ala	VAR_014964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014964	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	33	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Pro39Ala	VAR_014964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014964	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	38	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Pro39Ala	VAR_014964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014964	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	32	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Arg45Gln	VAR_030049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030049	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	39	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Arg45Gln	VAR_030049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030049	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	44	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Arg45Gln	VAR_030049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030049	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	38	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Trp60Gly	VAR_014965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014965	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	56	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Trp60Gly	VAR_014965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014965	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	59	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Trp60Gly	VAR_014965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014965	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	53	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Ala61Gly	VAR_014966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014966	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	57	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Ala61Gly	VAR_014966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014966	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	60	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Ala61Gly	VAR_014966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014966	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	54	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Thr64Ile	VAR_030050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030050	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	60	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Thr64Ile	VAR_030050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030050	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	63	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Thr64Ile	VAR_030050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030050	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	57	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Lys66Thr	VAR_014967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014967	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	62	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Lys66Thr	VAR_014967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014967	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	65	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Lys66Thr	VAR_014967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014967	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	59	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Gly70Arg	VAR_014968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014968	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	69	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Gly70Arg	VAR_014968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014968	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	69	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Gly70Arg	VAR_014968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014968	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	63	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Pro76Ser	VAR_014969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014969	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	86	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Pro76Ser	VAR_014969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014969	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	84	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Pro76Ser	VAR_014969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014969	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	80	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Gln82Lys	VAR_014970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014970	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	92	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Gln82Lys	VAR_014970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014970	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	90	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Gln82Lys	VAR_014970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014970	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	95	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Arg84Cys	VAR_014971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014971	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	94	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Arg84Cys	VAR_014971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014971	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	92	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Arg84Cys	VAR_014971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014971	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	97	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Arg84Gly	VAR_030051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030051	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	94	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Arg84Gly	VAR_030051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030051	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	92	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Arg84Gly	VAR_030051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030051	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	97	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Arg84His	VAR_014972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014972	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	94	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Arg84His	VAR_014972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014972	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	92	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Arg84His	VAR_014972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014972	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	97	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Asn88His	VAR_014973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014973	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	98	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Asn88His	VAR_014973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014973	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	96	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Asn88His	VAR_014973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014973	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	101	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Lys89Glu	VAR_014974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014974	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	99	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Lys89Glu	VAR_014974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014974	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	97	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Lys89Glu	VAR_014974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014974	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	102	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Ser90Gly	VAR_014975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014975	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	100	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Ser90Gly	VAR_014975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014975	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	98	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Ser90Gly	VAR_014975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014975	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	103	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Asp98His	VAR_014976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014976	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	108	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Asp98His	VAR_014976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014976	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	109	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Asp98His	VAR_014976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014976	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	111	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Thr100Ala	VAR_030052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030052	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	110	pfam00605	5453700,NP_006138
3664	3122293	Disease	p.Thr100Ala	VAR_030052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030052	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	111	cd00103	5453700,NP_006138
3664	3122293	Disease	p.Thr100Ala	VAR_030052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030052	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	113	smart00348	5453700,NP_006138
3664	3122293	Disease	p.Arg250Gln	VAR_014977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014977	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	28	pfam10401	5453700,NP_006138
3664	3122293	Disease	p.Leu251Pro	VAR_030053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030053	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	29	pfam10401	5453700,NP_006138
3664	3122293	Disease	p.Gln273Arg	VAR_014978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014978	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	78	pfam10401	5453700,NP_006138
3664	3122293	Disease	p.Leu294Pro	VAR_014981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014981	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	107	pfam10401	5453700,NP_006138
3664	3122293	Disease	p.Val297Ile	VAR_014982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014982	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	110	pfam10401	5453700,NP_006138
3664	3122293	Disease	p.Lys320Glu	VAR_014983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014983	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	134	pfam10401	5453700,NP_006138
3664	3122293	Disease	p.Val321Met	VAR_014984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014984	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	135	pfam10401	5453700,NP_006138
3664	3122293	Disease	p.Gly325Glu	VAR_014985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014985	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	139	pfam10401	5453700,NP_006138
3664	3122293	Disease	p.Arg339Ile	VAR_059080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059080	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	164	pfam10401	5453700,NP_006138
3664	3122293	Disease	p.Leu345Pro	VAR_014986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014986	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	171	pfam10401	5453700,NP_006138
3664	3122293	Disease	p.Cys347Phe	VAR_014987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014987	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	173	pfam10401	5453700,NP_006138
3664	3122293	Disease	p.Glu349Val	VAR_030054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030054	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	175	pfam10401	5453700,NP_006138
3664	3122293	Disease	p.Phe369Ser	VAR_014988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014988	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	222	pfam10401	5453700,NP_006138
3664	3122293	Disease	p.Cys374Trp	VAR_014989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014989	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	228	pfam10401	5453700,NP_006138
3664	3122293	Disease	p.Lys388Glu	VAR_014990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014990	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	244	pfam10401	5453700,NP_006138
3664	3122293	Disease	p.Pro396Ser	VAR_030055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030055	- Van der Woude syndrome (VWS) [MIM:119300]	SWISS	252	pfam10401	5453700,NP_006138
3664	3122293	Disease	p.Arg400Trp	VAR_030056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030056	rs28942095 Van der Woude syndrome (VWS) [MIM:119300]	SWISS	256	pfam10401	5453700,NP_006138
3664	3122293	Disease	p.Asp430Asn	VAR_014991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014991	- Popliteal pterygium syndrome (PPS) [MIM:119500]	SWISS	No Domain	N/A	5453700,NP_006138
3667	547738	Disease	p.Ser1043Tyr	VAR_005302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005302	- The etiology of non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	No Domain	N/A	5031805,NP_005535
3667	547738	Disease	p.Cys1095Tyr	VAR_005303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005303	- The etiology of non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	No Domain	N/A	5031805,NP_005535
3674	226694183	Disease	p.Leu86Pro	VAR_030445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030445	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	70	smart00191	88758615,NP_000410
3674	226694183	Disease	p.Ala139Val	VAR_030446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030446	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	No Domain	N/A	88758615,NP_000410
3674	226694183	Disease	p.Cys161Trp	VAR_030447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030447	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	No Domain	N/A	88758615,NP_000410
3674	226694183	Disease	p.Tyr174His	VAR_030448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030448	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	No Domain	N/A	88758615,NP_000410
3674	226694183	Disease	p.Pro176Ala	VAR_009885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009885	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	No Domain	N/A	88758615,NP_000410
3674	226694183	Disease	p.Pro176Leu	VAR_009886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009886	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	No Domain	N/A	88758615,NP_000410
3674	226694183	Disease	p.Phe202Cys	VAR_030449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030449	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	No Domain	N/A	88758615,NP_000410
3674	226694183	Disease	p.Thr207Ile	VAR_030450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030450	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	No Domain	N/A	88758615,NP_000410
3674	226694183	Disease	p.Leu214Pro	VAR_030451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030451	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	No Domain	N/A	88758615,NP_000410
3674	226694183	Disease	p.Phe222Leu	VAR_030452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030452	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	No Domain	N/A	88758615,NP_000410
3674	226694183	Disease	p.Gly267Glu	VAR_030453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030453	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	6	smart00191	88758615,NP_000410
3674	226694183	Disease	p.Gly273Asp	VAR_003979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003979	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	15	smart00191	88758615,NP_000410
3674	226694183	Disease	p.Phe320Ser	VAR_009887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009887	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	5	smart00191	88758615,NP_000410
3674	226694183	Disease	p.Val329Phe	VAR_030454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030454	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	17	smart00191	88758615,NP_000410
3674	226694183	Disease	p.Val329Phe	VAR_030454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030454	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	12	pfam01839	88758615,NP_000410
3674	226694183	Disease	p.Glu355Lys	VAR_009888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009888	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	64	smart00191	88758615,NP_000410
3674	226694183	Disease	p.Glu355Lys	VAR_009888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009888	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	52	pfam01839	88758615,NP_000410
3674	226694183	Disease	p.Arg358His	VAR_003980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003980	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	67	smart00191	88758615,NP_000410
3674	226694183	Disease	p.Arg358His	VAR_003980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003980	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	58	pfam01839	88758615,NP_000410
3674	226694183	Disease	p.Gly380Asp	VAR_030455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030455	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	No Domain	N/A	88758615,NP_000410
3674	226694183	Disease	p.Ile405Thr	VAR_030456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030456	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	20	pfam01839	88758615,NP_000410
3674	226694183	Disease	p.Ile405Thr	VAR_030456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030456	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	30	smart00191	88758615,NP_000410
3674	226694183	Disease	p.Gly412Arg	VAR_030457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030457	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	48	pfam01839	88758615,NP_000410
3674	226694183	Disease	p.Gly412Arg	VAR_030457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030457	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	42	smart00191	88758615,NP_000410
3674	226694183	Disease	p.Gly449Asp	VAR_003981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003981	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	2	pfam01839	88758615,NP_000410
3674	226694183	Disease	p.Gly449Asp	VAR_003981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003981	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	6	smart00191	88758615,NP_000410
3674	226694183	Disease	p.Ala581Asp	VAR_030459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030459	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	153	pfam08441	88758615,NP_000410
3674	226694183	Disease	p.Ile596Thr	VAR_030460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030460	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	173	pfam08441	88758615,NP_000410
3674	226694183	Disease	p.Cys705Arg	VAR_030461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030461	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	535	pfam08441	88758615,NP_000410
3674	226694183	Disease	p.Leu752Val	VAR_030462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030462	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	601	pfam08441	88758615,NP_000410
3674	226694183	Disease	p.Arg755Pro	VAR_030463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030463	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	607	pfam08441	88758615,NP_000410
3674	226694183	Disease	p.Gln778Pro	VAR_003982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003982	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	635	pfam08441	88758615,NP_000410
3674	226694183	Disease	p.Leu847Pro	VAR_030464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030464	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	743	pfam08441	88758615,NP_000410
3674	226694183	Disease	p.Pro943Leu	VAR_030465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030465	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	No Domain	N/A	88758615,NP_000410
3674	226694183	Disease	p.Val982Met	VAR_030466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030466	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	No Domain	N/A	88758615,NP_000410
3674	226694183	Disease	p.Arg1026Gln	VAR_030468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030468	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	7	pfam00357	88758615,NP_000410
3689	124056465	Disease	p.Asp128Asn	VAR_003984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003984	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	179	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Asp128Asn	VAR_003984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003984	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	235	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Asp128Asn	VAR_003984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003984	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	3	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Ser138Pro	VAR_013402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013402	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	189	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Ser138Pro	VAR_013402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013402	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	245	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Ser138Pro	VAR_013402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013402	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	16	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Leu149Pro	VAR_003985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003985	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	200	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Leu149Pro	VAR_003985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003985	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	256	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Leu149Pro	VAR_003985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003985	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	72	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly169Arg	VAR_003986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003986	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	220	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly169Arg	VAR_003986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003986	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	277	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly169Arg	VAR_003986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003986	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	138	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Pro178Leu	VAR_003987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003987	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	229	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Pro178Leu	VAR_003987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003987	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	286	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Pro178Leu	VAR_003987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003987	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	164	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Lys196Thr	VAR_003988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003988	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	250	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Lys196Thr	VAR_003988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003988	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	308	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Lys196Thr	VAR_003988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003988	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	187	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly273Arg	VAR_013403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013403	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	330	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly273Arg	VAR_013403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013403	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	422	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly273Arg	VAR_013403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013403	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	446	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly284Ser	VAR_003989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003989	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	343	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly284Ser	VAR_003989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003989	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	435	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Gly284Ser	VAR_003989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003989	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	457	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Asn351Ser	VAR_003990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003990	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	422	smart00187	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Asn351Ser	VAR_003990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003990	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	580	pfam00362	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Asn351Ser	VAR_003990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003990	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	670	smart00327	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Arg586Trp	VAR_003991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003991	rs5030672 Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	5	pfam07974	188595677,NP_001120963|89191865,NP_000202
3689	124056465	Disease	p.Arg593Cys	VAR_003992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003992	- Leukocyte adhesion deficiency type 1 (LAD1) [MIM:116920]	SWISS	19	pfam07974	188595677,NP_001120963|89191865,NP_000202
3690	125987835	Disease	p.Arg119Trp	VAR_030473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030473	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	180	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Arg119Trp	VAR_030473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030473	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	159	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Tyr141Cys	VAR_030474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030474	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	6	smart00327	47078292,NP_000203
3690	125987835	Disease	p.Tyr141Cys	VAR_030474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030474	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	237	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Tyr141Cys	VAR_030474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030474	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	181	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Leu143Trp	VAR_010649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010649	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	8	smart00327	47078292,NP_000203
3690	125987835	Disease	p.Leu143Trp	VAR_010649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010649	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	239	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Leu143Trp	VAR_010649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010649	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	183	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Asp145Asn	VAR_030475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030475	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	10	smart00327	47078292,NP_000203
3690	125987835	Disease	p.Asp145Asn	VAR_030475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030475	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	241	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Asp145Asn	VAR_030475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030475	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	185	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Asp145Tyr	VAR_003998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003998	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	10	smart00327	47078292,NP_000203
3690	125987835	Disease	p.Asp145Tyr	VAR_003998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003998	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	241	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Asp145Tyr	VAR_003998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003998	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	185	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Met150Val	VAR_030476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030476	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	17	smart00327	47078292,NP_000203
3690	125987835	Disease	p.Met150Val	VAR_030476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030476	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	246	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Met150Val	VAR_030476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030476	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	190	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Ser188Leu	VAR_010651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010651	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	158	smart00327	47078292,NP_000203
3690	125987835	Disease	p.Ser188Leu	VAR_010651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010651	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	285	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Ser188Leu	VAR_010651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010651	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	228	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Leu222Pro	VAR_030478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030478	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	201	smart00327	47078292,NP_000203
3690	125987835	Disease	p.Leu222Pro	VAR_030478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030478	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	322	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Leu222Pro	VAR_030478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030478	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	264	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Arg240Gln	VAR_003999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003999	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	272	smart00327	47078292,NP_000203
3690	125987835	Disease	p.Arg240Gln	VAR_003999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003999	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	340	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Arg240Gln	VAR_003999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003999	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	282	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Arg240Trp	VAR_004000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004000	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	272	smart00327	47078292,NP_000203
3690	125987835	Disease	p.Arg240Trp	VAR_004000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004000	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	340	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Arg240Trp	VAR_004000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004000	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	282	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Arg242Gln	VAR_030479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030479	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	279	smart00327	47078292,NP_000203
3690	125987835	Disease	p.Arg242Gln	VAR_030479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030479	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	342	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Arg242Gln	VAR_030479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030479	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	284	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Asp243Val	VAR_030480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030480	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	281	smart00327	47078292,NP_000203
3690	125987835	Disease	p.Asp243Val	VAR_030480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030480	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	343	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Asp243Val	VAR_030480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030480	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	285	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Leu288Pro	VAR_030481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030481	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	448	smart00327	47078292,NP_000203
3690	125987835	Disease	p.Leu288Pro	VAR_030481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030481	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	426	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Leu288Pro	VAR_030481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030481	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	334	smart00187	47078292,NP_000203
3690	125987835	Disease	p.His306Pro	VAR_004001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004001	rs13306476 Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	466	smart00327	47078292,NP_000203
3690	125987835	Disease	p.His306Pro	VAR_004001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004001	rs13306476 Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	453	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.His306Pro	VAR_004001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004001	rs13306476 Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	360	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Met321Leu	VAR_030482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030482	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	478	smart00327	47078292,NP_000203
3690	125987835	Disease	p.Met321Leu	VAR_030482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030482	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	472	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Met321Leu	VAR_030482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030482	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	375	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Ile330Asn	VAR_030483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030483	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	487	smart00327	47078292,NP_000203
3690	125987835	Disease	p.Ile330Asn	VAR_030483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030483	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	481	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Ile330Asn	VAR_030483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030483	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	384	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Cys400Tyr	VAR_004002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004002	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	616	pfam00362	47078292,NP_000203
3690	125987835	Disease	p.Cys400Tyr	VAR_004002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004002	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	459	smart00187	47078292,NP_000203
3690	125987835	Disease	p.Cys532Tyr	VAR_030484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030484	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	35	pfam07974	47078292,NP_000203
3690	125987835	Disease	p.Cys568Arg	VAR_010671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010671	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	No Domain	N/A	47078292,NP_000203
3690	125987835	Disease	p.Cys586Phe	VAR_004003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004003	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	No Domain	N/A	47078292,NP_000203
3690	125987835	Disease	p.Cys586Arg	VAR_030485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030485	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	No Domain	N/A	47078292,NP_000203
3690	125987835	Disease	p.Gly598Ser	VAR_004004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004004	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	6	pfam07974	47078292,NP_000203
3690	125987835	Disease	p.Cys601Arg	VAR_030486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030486	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	13	pfam07974	47078292,NP_000203
3690	125987835	Disease	p.Gly605Ser	VAR_010672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010672	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	20	pfam07974	47078292,NP_000203
3690	125987835	Disease	p.Ser778Pro	VAR_004005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004005	- Glanzmann thrombasthenia (GT) [MIM:273800]	SWISS	37	pfam08725	47078292,NP_000203
3691	13638154	Disease	p.Cys38Arg	VAR_010652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010652	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	13	smart00423	NULL
3691	13638154	Disease	p.Cys38Arg	VAR_010652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010652	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	2	pfam00362	NULL
3691	13638154	Disease	p.Cys38Arg	VAR_010652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010652	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	2	smart00187	NULL
3691	13638154	Disease	p.Cys61Tyr	VAR_004006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004006	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	86	smart00423	NULL
3691	13638154	Disease	p.Cys61Tyr	VAR_004006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004006	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	70	pfam00362	NULL
3691	13638154	Disease	p.Cys61Tyr	VAR_004006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004006	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	39	smart00187	NULL
3691	13638154	Disease	p.Asp131Tyr	VAR_011293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011293	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	235	pfam00362	NULL
3691	13638154	Disease	p.Asp131Tyr	VAR_011293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011293	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	179	smart00187	NULL
3691	13638154	Disease	p.Leu156Pro	VAR_004007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004007	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	260	pfam00362	NULL
3691	13638154	Disease	p.Leu156Pro	VAR_004007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004007	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	204	smart00187	NULL
3691	13638154	Disease	p.Cys245Gly	VAR_004008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004008	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	358	pfam00362	NULL
3691	13638154	Disease	p.Cys245Gly	VAR_004008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004008	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	300	smart00187	NULL
3691	13638154	Disease	p.Arg252Cys	VAR_004009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004009	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	395	pfam00362	NULL
3691	13638154	Disease	p.Arg252Cys	VAR_004009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004009	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	307	smart00187	NULL
3691	13638154	Disease	p.Gly273Asp	VAR_011294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011294	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	422	pfam00362	NULL
3691	13638154	Disease	p.Gly273Asp	VAR_011294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011294	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	330	smart00187	NULL
3691	13638154	Disease	p.Arg283Cys	VAR_011295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011295	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	432	pfam00362	NULL
3691	13638154	Disease	p.Arg283Cys	VAR_011295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011295	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	340	smart00187	NULL
3691	13638154	Disease	p.Val325Asp	VAR_011296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011296	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	525	pfam00362	NULL
3691	13638154	Disease	p.Val325Asp	VAR_011296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011296	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	390	smart00187	NULL
3691	13638154	Disease	p.Leu336Pro	VAR_011297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011297	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	557	pfam00362	NULL
3691	13638154	Disease	p.Leu336Pro	VAR_011297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011297	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	401	smart00187	NULL
3691	13638154	Disease	p.Cys562Arg	VAR_004010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004010	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	35	pfam07974	NULL
3691	13638154	Disease	p.Gly931Asp	VAR_011299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011299	- Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]	SWISS	No Domain	N/A	NULL
3691	13638154	Disease	p.Arg1225His	VAR_011301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011301	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	7	cd00063	NULL
3691	13638154	Disease	p.Arg1225His	VAR_011301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011301	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	6	smart00060	NULL
3691	13638154	Disease	p.Arg1225His	VAR_011301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011301	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	6	pfam00041	NULL
3691	13638154	Disease	p.Arg1281Trp	VAR_004011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004011	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	135	cd00063	NULL
3691	13638154	Disease	p.Arg1281Trp	VAR_004011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004011	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	154	smart00060	NULL
3691	13638154	Disease	p.Arg1281Trp	VAR_004011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004011	- Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]	SWISS	83	pfam00041	NULL
3702	585361	Disease	p.Arg335Trp	VAR_063424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063424	- Lymphoproliferative syndrome EBV-associated autosomal type 1 (LPSA1) [MIM:613011]	SWISS	108	cd05107	15718680,NP_005537
3702	585361	Disease	p.Arg335Trp	VAR_063424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063424	- Lymphoproliferative syndrome EBV-associated autosomal type 1 (LPSA1) [MIM:613011]	SWISS	90	cd05104	15718680,NP_005537
3702	585361	Disease	p.Arg335Trp	VAR_063424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063424	- Lymphoproliferative syndrome EBV-associated autosomal type 1 (LPSA1) [MIM:613011]	SWISS	104	cd05054	15718680,NP_005537
3702	585361	Disease	p.Arg335Trp	VAR_063424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063424	- Lymphoproliferative syndrome EBV-associated autosomal type 1 (LPSA1) [MIM:613011]	SWISS	3	cd05106	15718680,NP_005537
3702	585361	Disease	p.Arg335Trp	VAR_063424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063424	- Lymphoproliferative syndrome EBV-associated autosomal type 1 (LPSA1) [MIM:613011]	SWISS	157	cd00173	15718680,NP_005537
3704	30173120	Disease	p.Pro32Thr	VAR_015576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015576	rs1127354 Inosine triphosphate pyrophosphohydrolase deficiency (ITPA deficiency) [MIM:147520]	SWISS	26	COG0127	15626999,NP_258412
3704	30173120	Disease	p.Pro32Thr	VAR_015576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015576	rs1127354 Inosine triphosphate pyrophosphohydrolase deficiency (ITPA deficiency) [MIM:147520]	SWISS	41	pfam01725	15626999,NP_258412
3704	30173120	Disease	p.Pro32Thr	VAR_015576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015576	rs1127354 Inosine triphosphate pyrophosphohydrolase deficiency (ITPA deficiency) [MIM:147520]	SWISS	28	cd00515	15626999,NP_258412
3704	30173120	Disease	p.Pro32Thr	VAR_015576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015576	rs1127354 Inosine triphosphate pyrophosphohydrolase deficiency (ITPA deficiency) [MIM:147520]	SWISS	49	cd00985	15626999,NP_258412
3712	125051	Disease	p.Leu42Pro	VAR_000423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000423	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	13	cd01151	NULL
3712	125051	Disease	p.Leu42Pro	VAR_000423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000423	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	32	cd01161	NULL
3712	125051	Disease	p.Leu42Pro	VAR_000423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000423	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	2	cd01156	NULL
3712	125051	Disease	p.Leu42Pro	VAR_000423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000423	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	5	COG1960	NULL
3712	125051	Disease	p.Arg50Pro	VAR_015960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015960	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	21	cd01151	NULL
3712	125051	Disease	p.Arg50Pro	VAR_015960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015960	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	40	cd01161	NULL
3712	125051	Disease	p.Arg50Pro	VAR_015960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015960	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	10	cd01156	NULL
3712	125051	Disease	p.Arg50Pro	VAR_015960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015960	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	33	COG1960	NULL
3712	125051	Disease	p.Arg50Pro	VAR_015960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015960	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	9	cd01162	NULL
3712	125051	Disease	p.Arg50Pro	VAR_015960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015960	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	9	cd01157	NULL
3712	125051	Disease	p.Arg50Pro	VAR_015960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015960	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	8	cd01154	NULL
3712	125051	Disease	p.Arg50Pro	VAR_015960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015960	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	19	pfam02771	NULL
3712	125051	Disease	p.Arg50Pro	VAR_015960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015960	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	7	cd01152	NULL
3712	125051	Disease	p.Arg50Pro	VAR_015960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015960	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	7	cd01160	NULL
3712	125051	Disease	p.Arg50Pro	VAR_015960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015960	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	7	cd00567	NULL
3712	125051	Disease	p.Arg50Pro	VAR_015960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015960	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	7	cd01155	NULL
3712	125051	Disease	p.Arg50Pro	VAR_015960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015960	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	7	cd01158	NULL
3712	125051	Disease	p.Asp69Asn	VAR_015961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015961	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	40	cd01151	NULL
3712	125051	Disease	p.Asp69Asn	VAR_015961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015961	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	60	cd01161	NULL
3712	125051	Disease	p.Asp69Asn	VAR_015961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015961	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	21	cd01153	NULL
3712	125051	Disease	p.Asp69Asn	VAR_015961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015961	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	29	cd01156	NULL
3712	125051	Disease	p.Asp69Asn	VAR_015961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015961	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	59	COG1960	NULL
3712	125051	Disease	p.Asp69Asn	VAR_015961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015961	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	28	cd01162	NULL
3712	125051	Disease	p.Asp69Asn	VAR_015961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015961	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	28	cd01157	NULL
3712	125051	Disease	p.Asp69Asn	VAR_015961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015961	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	18	cd01163	NULL
3712	125051	Disease	p.Asp69Asn	VAR_015961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015961	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	40	cd01154	NULL
3712	125051	Disease	p.Asp69Asn	VAR_015961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015961	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	58	pfam02771	NULL
3712	125051	Disease	p.Asp69Asn	VAR_015961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015961	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	26	cd01152	NULL
3712	125051	Disease	p.Asp69Asn	VAR_015961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015961	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	26	cd01160	NULL
3712	125051	Disease	p.Asp69Asn	VAR_015961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015961	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	40	cd00567	NULL
3712	125051	Disease	p.Asp69Asn	VAR_015961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015961	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	26	cd01155	NULL
3712	125051	Disease	p.Asp69Asn	VAR_015961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015961	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	26	cd01158	NULL
3712	125051	Disease	p.Gly199Val	VAR_000424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000424	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	61	pfam02770	NULL
3712	125051	Disease	p.Gly199Val	VAR_000424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000424	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	173	cd01151	NULL
3712	125051	Disease	p.Gly199Val	VAR_000424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000424	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	191	cd01161	NULL
3712	125051	Disease	p.Gly199Val	VAR_000424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000424	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	167	cd01153	NULL
3712	125051	Disease	p.Gly199Val	VAR_000424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000424	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	159	cd01156	NULL
3712	125051	Disease	p.Gly199Val	VAR_000424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000424	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	289	COG1960	NULL
3712	125051	Disease	p.Gly199Val	VAR_000424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000424	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	159	cd01162	NULL
3712	125051	Disease	p.Gly199Val	VAR_000424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000424	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	155	cd01157	NULL
3712	125051	Disease	p.Gly199Val	VAR_000424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000424	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	150	cd01163	NULL
3712	125051	Disease	p.Gly199Val	VAR_000424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000424	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	213	cd01154	NULL
3712	125051	Disease	p.Gly199Val	VAR_000424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000424	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	169	cd01152	NULL
3712	125051	Disease	p.Gly199Val	VAR_000424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000424	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	156	cd01160	NULL
3712	125051	Disease	p.Gly199Val	VAR_000424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000424	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	199	cd00567	NULL
3712	125051	Disease	p.Gly199Val	VAR_000424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000424	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	198	cd01155	NULL
3712	125051	Disease	p.Gly199Val	VAR_000424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000424	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	158	cd01158	NULL
3712	125051	Disease	p.Ala311Val	VAR_015962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015962	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	288	cd01151	NULL
3712	125051	Disease	p.Ala311Val	VAR_015962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015962	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	306	cd01161	NULL
3712	125051	Disease	p.Ala311Val	VAR_015962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015962	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	312	cd01153	NULL
3712	125051	Disease	p.Ala311Val	VAR_015962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015962	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	271	cd01156	NULL
3712	125051	Disease	p.Ala311Val	VAR_015962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015962	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	467	COG1960	NULL
3712	125051	Disease	p.Ala311Val	VAR_015962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015962	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	273	cd01162	NULL
3712	125051	Disease	p.Ala311Val	VAR_015962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015962	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	268	cd01157	NULL
3712	125051	Disease	p.Ala311Val	VAR_015962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015962	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	270	cd01163	NULL
3712	125051	Disease	p.Ala311Val	VAR_015962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015962	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	340	cd01154	NULL
3712	125051	Disease	p.Ala311Val	VAR_015962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015962	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	34	pfam08028	NULL
3712	125051	Disease	p.Ala311Val	VAR_015962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015962	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	45	pfam00441	NULL
3712	125051	Disease	p.Ala311Val	VAR_015962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015962	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	279	cd01152	NULL
3712	125051	Disease	p.Ala311Val	VAR_015962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015962	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	268	cd01160	NULL
3712	125051	Disease	p.Ala311Val	VAR_015962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015962	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	350	cd00567	NULL
3712	125051	Disease	p.Ala311Val	VAR_015962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015962	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	328	cd01155	NULL
3712	125051	Disease	p.Ala311Val	VAR_015962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015962	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	270	cd01158	NULL
3712	125051	Disease	p.Cys357Arg	VAR_015963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015963	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	334	cd01151	NULL
3712	125051	Disease	p.Cys357Arg	VAR_015963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015963	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	371	cd01161	NULL
3712	125051	Disease	p.Cys357Arg	VAR_015963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015963	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	385	cd01153	NULL
3712	125051	Disease	p.Cys357Arg	VAR_015963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015963	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	322	cd01156	NULL
3712	125051	Disease	p.Cys357Arg	VAR_015963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015963	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	555	COG1960	NULL
3712	125051	Disease	p.Cys357Arg	VAR_015963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015963	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	320	cd01162	NULL
3712	125051	Disease	p.Cys357Arg	VAR_015963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015963	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	314	cd01157	NULL
3712	125051	Disease	p.Cys357Arg	VAR_015963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015963	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	346	cd01163	NULL
3712	125051	Disease	p.Cys357Arg	VAR_015963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015963	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	391	cd01154	NULL
3712	125051	Disease	p.Cys357Arg	VAR_015963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015963	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	93	pfam08028	NULL
3712	125051	Disease	p.Cys357Arg	VAR_015963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015963	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	104	pfam00441	NULL
3712	125051	Disease	p.Cys357Arg	VAR_015963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015963	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	334	cd01152	NULL
3712	125051	Disease	p.Cys357Arg	VAR_015963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015963	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	314	cd01160	NULL
3712	125051	Disease	p.Cys357Arg	VAR_015963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015963	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	416	cd00567	NULL
3712	125051	Disease	p.Cys357Arg	VAR_015963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015963	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	372	cd01155	NULL
3712	125051	Disease	p.Cys357Arg	VAR_015963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015963	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	317	cd01158	NULL
3712	125051	Disease	p.Val371Ala	VAR_015964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015964	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	349	cd01151	NULL
3712	125051	Disease	p.Val371Ala	VAR_015964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015964	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	385	cd01161	NULL
3712	125051	Disease	p.Val371Ala	VAR_015964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015964	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	404	cd01153	NULL
3712	125051	Disease	p.Val371Ala	VAR_015964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015964	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	336	cd01156	NULL
3712	125051	Disease	p.Val371Ala	VAR_015964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015964	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	569	COG1960	NULL
3712	125051	Disease	p.Val371Ala	VAR_015964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015964	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	334	cd01162	NULL
3712	125051	Disease	p.Val371Ala	VAR_015964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015964	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	328	cd01157	NULL
3712	125051	Disease	p.Val371Ala	VAR_015964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015964	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	363	cd01163	NULL
3712	125051	Disease	p.Val371Ala	VAR_015964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015964	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	412	cd01154	NULL
3712	125051	Disease	p.Val371Ala	VAR_015964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015964	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	111	pfam08028	NULL
3712	125051	Disease	p.Val371Ala	VAR_015964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015964	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	119	pfam00441	NULL
3712	125051	Disease	p.Val371Ala	VAR_015964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015964	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	348	cd01152	NULL
3712	125051	Disease	p.Val371Ala	VAR_015964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015964	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	328	cd01160	NULL
3712	125051	Disease	p.Val371Ala	VAR_015964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015964	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	430	cd00567	NULL
3712	125051	Disease	p.Val371Ala	VAR_015964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015964	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	386	cd01155	NULL
3712	125051	Disease	p.Val371Ala	VAR_015964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015964	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	331	cd01158	NULL
3712	125051	Disease	p.Arg392Cys	VAR_015965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015965	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	370	cd01151	NULL
3712	125051	Disease	p.Arg392Cys	VAR_015965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015965	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	406	cd01161	NULL
3712	125051	Disease	p.Arg392Cys	VAR_015965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015965	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	425	cd01153	NULL
3712	125051	Disease	p.Arg392Cys	VAR_015965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015965	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	357	cd01156	NULL
3712	125051	Disease	p.Arg392Cys	VAR_015965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015965	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	640	COG1960	NULL
3712	125051	Disease	p.Arg392Cys	VAR_015965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015965	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	355	cd01162	NULL
3712	125051	Disease	p.Arg392Cys	VAR_015965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015965	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	349	cd01157	NULL
3712	125051	Disease	p.Arg392Cys	VAR_015965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015965	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	388	cd01163	NULL
3712	125051	Disease	p.Arg392Cys	VAR_015965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015965	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	433	cd01154	NULL
3712	125051	Disease	p.Arg392Cys	VAR_015965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015965	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	132	pfam08028	NULL
3712	125051	Disease	p.Arg392Cys	VAR_015965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015965	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	150	pfam00441	NULL
3712	125051	Disease	p.Arg392Cys	VAR_015965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015965	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	388	cd01152	NULL
3712	125051	Disease	p.Arg392Cys	VAR_015965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015965	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	349	cd01160	NULL
3712	125051	Disease	p.Arg392Cys	VAR_015965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015965	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	470	cd00567	NULL
3712	125051	Disease	p.Arg392Cys	VAR_015965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015965	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	411	cd01155	NULL
3712	125051	Disease	p.Arg392Cys	VAR_015965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015965	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	352	cd01158	NULL
3712	125051	Disease	p.Arg411Leu	VAR_015966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015966	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	389	cd01151	NULL
3712	125051	Disease	p.Arg411Leu	VAR_015966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015966	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	425	cd01161	NULL
3712	125051	Disease	p.Arg411Leu	VAR_015966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015966	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	451	cd01153	NULL
3712	125051	Disease	p.Arg411Leu	VAR_015966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015966	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	376	cd01156	NULL
3712	125051	Disease	p.Arg411Leu	VAR_015966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015966	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	674	COG1960	NULL
3712	125051	Disease	p.Arg411Leu	VAR_015966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015966	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	374	cd01162	NULL
3712	125051	Disease	p.Arg411Leu	VAR_015966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015966	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	368	cd01157	NULL
3712	125051	Disease	p.Arg411Leu	VAR_015966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015966	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	452	cd01154	NULL
3712	125051	Disease	p.Arg411Leu	VAR_015966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015966	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	171	pfam00441	NULL
3712	125051	Disease	p.Arg411Leu	VAR_015966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015966	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	407	cd01152	NULL
3712	125051	Disease	p.Arg411Leu	VAR_015966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015966	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	368	cd01160	NULL
3712	125051	Disease	p.Arg411Leu	VAR_015966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015966	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	497	cd00567	NULL
3712	125051	Disease	p.Arg411Leu	VAR_015966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015966	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	430	cd01155	NULL
3712	125051	Disease	p.Arg411Leu	VAR_015966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015966	- Isovaleric acidemia (IVA) [MIM:243500]	SWISS	371	cd01158	NULL
389434	91207083	Disease	p.Arg101Trp	VAR_045963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045963	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	9	cd02136	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	VAR_045963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045963	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	9	cd02139	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	VAR_045963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045963	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	9	cd03370	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	VAR_045963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045963	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	9	cd02144	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	VAR_045963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045963	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	9	cd02151	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	VAR_045963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045963	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	5	cd02062	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	VAR_045963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045963	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	5	pfam00881	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	VAR_045963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045963	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	8	cd02145	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	VAR_045963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045963	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	8	cd02135	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	VAR_045963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045963	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	8	cd02137	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	VAR_045963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045963	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	8	cd02150	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	VAR_045963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045963	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	13	COG0778	42794271,NP_981932
389434	91207083	Disease	p.Arg101Trp	VAR_045963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045963	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	6	cd02143	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	VAR_045965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045965	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	25	cd02136	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	VAR_045965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045965	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	25	cd02139	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	VAR_045965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045965	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	25	cd03370	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	VAR_045965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045965	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	25	cd02144	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	VAR_045965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045965	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	24	cd02151	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	VAR_045965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045965	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	25	cd02062	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	VAR_045965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045965	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	51	pfam00881	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	VAR_045965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045965	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	24	cd02145	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	VAR_045965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045965	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	25	cd02135	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	VAR_045965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045965	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	24	cd02137	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	VAR_045965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045965	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	23	cd02150	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	VAR_045965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045965	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	39	COG0778	42794271,NP_981932
389434	91207083	Disease	p.Ile116Thr	VAR_045965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045965	- Congenital hypothyroidism due to dyshormonogenesis type 4 (CHDH4) [MIM:274800]	SWISS	21	cd02143	42794271,NP_981932
182	20455033	Disease	p.Ala31Val	VAR_026297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026297	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	No Domain	N/A	4557679,NP_000205
182	20455033	Disease	p.Gly33Asp	VAR_026298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026298	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	3	pfam07657	4557679,NP_000205
182	20455033	Disease	p.Gly33Ser	VAR_026299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026299	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	3	pfam07657	4557679,NP_000205
182	20455033	Disease	p.Gly33Val	VAR_026300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026300	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	3	pfam07657	4557679,NP_000205
182	20455033	Disease	p.Leu37Ser	VAR_013186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013186	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	7	pfam07657	4557679,NP_000205
182	20455033	Disease	p.Ile39Ser	VAR_026301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026301	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	9	pfam07657	4557679,NP_000205
182	20455033	Disease	p.Leu40Pro	VAR_026302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026302	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	10	pfam07657	4557679,NP_000205
182	20455033	Disease	p.Phe75Ser	VAR_026306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026306	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	49	pfam07657	4557679,NP_000205
182	20455033	Disease	p.Cys78Ser	VAR_026307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026307	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	52	pfam07657	4557679,NP_000205
182	20455033	Disease	p.Leu79His	VAR_013187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013187	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	53	pfam07657	4557679,NP_000205
182	20455033	Disease	p.Cys92Arg	VAR_026308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026308	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	69	pfam07657	4557679,NP_000205
182	20455033	Disease	p.Cys92Tyr	VAR_026309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026309	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	69	pfam07657	4557679,NP_000205
182	20455033	Disease	p.Ile120Asn	VAR_026310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026310	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	No Domain	N/A	4557679,NP_000205
182	20455033	Disease	p.Pro123Ser	VAR_026311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026311	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	No Domain	N/A	4557679,NP_000205
182	20455033	Disease	p.Ala127Thr	VAR_013188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013188	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	No Domain	N/A	4557679,NP_000205
182	20455033	Disease	p.Pro129Arg	VAR_013189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013189	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	No Domain	N/A	4557679,NP_000205
182	20455033	Disease	p.Ile152Thr	VAR_013190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013190	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	No Domain	N/A	4557679,NP_000205
182	20455033	Disease	p.Ala155Pro	VAR_026312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026312	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	No Domain	N/A	4557679,NP_000205
182	20455033	Disease	p.Pro163Leu	VAR_013191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013191	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	No Domain	N/A	4557679,NP_000205
182	20455033	Disease	p.Pro163Arg	VAR_026313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026313	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	No Domain	N/A	4557679,NP_000205
182	20455033	Disease	p.Tyr181Asn	VAR_026314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026314	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	19	smart00051	4557679,NP_000205
182	20455033	Disease	p.Tyr181Asn	VAR_026314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026314	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	19	pfam01414	4557679,NP_000205
182	20455033	Disease	p.Arg184Cys	VAR_013192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013192	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	22	smart00051	4557679,NP_000205
182	20455033	Disease	p.Arg184Cys	VAR_013192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013192	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	22	pfam01414	4557679,NP_000205
182	20455033	Disease	p.Arg184Gly	VAR_013193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013193	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	22	smart00051	4557679,NP_000205
182	20455033	Disease	p.Arg184Gly	VAR_013193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013193	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	22	pfam01414	4557679,NP_000205
182	20455033	Disease	p.Arg184His	VAR_013194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013194	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	22	smart00051	4557679,NP_000205
182	20455033	Disease	p.Arg184His	VAR_013194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013194	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	22	pfam01414	4557679,NP_000205
182	20455033	Disease	p.Arg184Leu	VAR_013195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013195	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	22	smart00051	4557679,NP_000205
182	20455033	Disease	p.Arg184Leu	VAR_013195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013195	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	22	pfam01414	4557679,NP_000205
182	20455033	Disease	p.Cys187Ser	VAR_013196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013196	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	25	smart00051	4557679,NP_000205
182	20455033	Disease	p.Cys187Ser	VAR_013196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013196	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	25	pfam01414	4557679,NP_000205
182	20455033	Disease	p.Cys187Tyr	VAR_026315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026315	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	25	smart00051	4557679,NP_000205
182	20455033	Disease	p.Cys187Tyr	VAR_026315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026315	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	25	pfam01414	4557679,NP_000205
182	20455033	Disease	p.Cys220Phe	VAR_013197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013197	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	58	smart00051	4557679,NP_000205
182	20455033	Disease	p.Cys220Phe	VAR_013197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013197	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	58	pfam01414	4557679,NP_000205
182	20455033	Disease	p.Trp224Cys	VAR_026317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026317	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	62	smart00051	4557679,NP_000205
182	20455033	Disease	p.Trp224Cys	VAR_026317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026317	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	62	pfam01414	4557679,NP_000205
182	20455033	Disease	p.Cys229Gly	VAR_013198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013198	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	No Domain	N/A	4557679,NP_000205
182	20455033	Disease	p.Cys229Tyr	VAR_013199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013199	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	No Domain	N/A	4557679,NP_000205
182	20455033	Disease	p.Arg252Gly	VAR_026319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026319	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	No Domain	N/A	4557679,NP_000205
182	20455033	Disease	p.Gly256Ser	VAR_026320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026320	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	No Domain	N/A	4557679,NP_000205
182	20455033	Disease	p.Pro269Leu	VAR_026321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026321	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	No Domain	N/A	4557679,NP_000205
182	20455033	Disease	p.Cys271Arg	VAR_026322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026322	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	No Domain	N/A	4557679,NP_000205
182	20455033	Disease	p.Gly274Asp	VAR_013200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013200	rs28939668 Tetralogy of Fallot (TOF) [MIM:187500]	SWISS	No Domain	N/A	4557679,NP_000205
182	20455033	Disease	p.Cys284Phe	VAR_013201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013201	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	No Domain	N/A	4557679,NP_000205
182	20455033	Disease	p.Trp288Cys	VAR_013202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013202	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	No Domain	N/A	4557679,NP_000205
182	20455033	Disease	p.Gly386Arg	VAR_013203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013203	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	20	smart00181	4557679,NP_000205
182	20455033	Disease	p.Gly386Arg	VAR_013203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013203	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	25	cd00053	4557679,NP_000205
182	20455033	Disease	p.Gly386Arg	VAR_013203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013203	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	13	pfam00008	4557679,NP_000205
182	20455033	Disease	p.Gly386Arg	VAR_013203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013203	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	28	smart00179	4557679,NP_000205
182	20455033	Disease	p.Gly386Arg	VAR_013203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013203	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	33	cd00054	4557679,NP_000205
182	20455033	Disease	p.Cys438Phe	VAR_013204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013204	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	57	smart00181	4557679,NP_000205
182	20455033	Disease	p.Cys438Phe	VAR_013204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013204	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	58	cd00053	4557679,NP_000205
182	20455033	Disease	p.Cys438Phe	VAR_013204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013204	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	55	smart00179	4557679,NP_000205
182	20455033	Disease	p.Cys438Phe	VAR_013204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013204	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	60	cd00054	4557679,NP_000205
182	20455033	Disease	p.Asn504Ser	VAR_026323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026323	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	29	smart00181	4557679,NP_000205
182	20455033	Disease	p.Asn504Ser	VAR_026323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026323	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	30	cd00053	4557679,NP_000205
182	20455033	Disease	p.Asn504Ser	VAR_026323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026323	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	20	pfam00008	4557679,NP_000205
182	20455033	Disease	p.Asn504Ser	VAR_026323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026323	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	25	pfam07645	4557679,NP_000205
182	20455033	Disease	p.Asn504Ser	VAR_026323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026323	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	38	cd00054	4557679,NP_000205
182	20455033	Disease	p.Asn504Ser	VAR_026323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026323	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	36	smart00179	4557679,NP_000205
182	20455033	Disease	p.Cys693Tyr	VAR_026325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026325	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	60	cd00054	4557679,NP_000205
182	20455033	Disease	p.Cys693Tyr	VAR_026325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026325	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	55	smart00179	4557679,NP_000205
182	20455033	Disease	p.Cys693Tyr	VAR_026325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026325	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	37	pfam00008	4557679,NP_000205
182	20455033	Disease	p.Cys693Tyr	VAR_026325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026325	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	57	smart00181	4557679,NP_000205
182	20455033	Disease	p.Cys693Tyr	VAR_026325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026325	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	58	cd00053	4557679,NP_000205
182	20455033	Disease	p.Cys714Tyr	VAR_026326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026326	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	19	cd00053	4557679,NP_000205
182	20455033	Disease	p.Cys714Tyr	VAR_026326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026326	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	17	smart00181	4557679,NP_000205
182	20455033	Disease	p.Cys731Ser	VAR_013205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013205	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	58	cd00053	4557679,NP_000205
182	20455033	Disease	p.Cys731Ser	VAR_013205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013205	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	57	smart00181	4557679,NP_000205
182	20455033	Disease	p.Cys740Arg	VAR_013206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013206	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	85	cd00053	4557679,NP_000205
182	20455033	Disease	p.Cys740Arg	VAR_013206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013206	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	82	smart00181	4557679,NP_000205
182	20455033	Disease	p.Cys753Arg	VAR_013207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013207	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	25	cd00054	4557679,NP_000205
182	20455033	Disease	p.Cys753Arg	VAR_013207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013207	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	17	smart00181	4557679,NP_000205
182	20455033	Disease	p.Cys753Arg	VAR_013207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013207	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	19	cd00053	4557679,NP_000205
182	20455033	Disease	p.Cys753Arg	VAR_013207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013207	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	10	pfam00008	4557679,NP_000205
182	20455033	Disease	p.Arg889Gln	VAR_026329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026329	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	45	smart00215	4557679,NP_000205
182	20455033	Disease	p.Arg889Gln	VAR_026329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026329	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	46	smart00214	4557679,NP_000205
182	20455033	Disease	p.Cys902Ser	VAR_026330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026330	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	60	smart00215	4557679,NP_000205
182	20455033	Disease	p.Cys902Ser	VAR_026330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026330	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	80	smart00214	4557679,NP_000205
182	20455033	Disease	p.Cys911Tyr	VAR_026332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026332	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	76	smart00215	4557679,NP_000205
182	20455033	Disease	p.Cys911Tyr	VAR_026332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026332	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	89	smart00214	4557679,NP_000205
182	20455033	Disease	p.Ser913Arg	VAR_026333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026333	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	78	smart00215	4557679,NP_000205
182	20455033	Disease	p.Ser913Arg	VAR_026333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026333	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	91	smart00214	4557679,NP_000205
182	20455033	Disease	p.Arg937Gln	VAR_026335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026335	- Alagille syndrome type 1 (ALGS1) [MIM:118450]	SWISS	No Domain	N/A	4557679,NP_000205
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	71	cd05072	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	70	cd05069	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	71	cd05068	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	69	cd05082	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	69	cd05083	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	71	cd05073	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	70	cd05070	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	70	cd05067	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	72	cd05052	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	70	cd05071	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	79	cd05062	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	79	cd05061	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	78_G	cd05111	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	106	cd05056	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	71	cd05060	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	73	cd05058	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	65_G	cd05116	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	69	cd05040	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	63	cd05084	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	63	cd05085	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	121	cd00192	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	86	cd05076	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	86	cd05037	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	69	cd05078	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	74	cd05077	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	79	cd05109	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	76	cd05079	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	303	smart00221	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	105	pfam07714	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	106	pfam00069	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	224	smart00219	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	182	cd00180	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	128	cd05057	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	65	cd05115	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	75	cd05066	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	75	cd05065	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	69	cd05112	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	69	cd05114	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	69	cd05113	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	225	smart00220	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	77	cd05092	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	77	cd05090	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	77	cd05093	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	77	cd05063	4826776,NP_004963
3717	12643404	Disease	p.Val617Phe	VAR_032697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032697	- Polycythemia vera (PV) [MIM:263300]	SWISS	76	cd05064	4826776,NP_004963
3718	50403745	Disease	p.Tyr100Cys	VAR_006284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006284	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	369	smart00295	47157315,NP_000206
3718	50403745	Disease	p.Pro151Arg	VAR_010492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010492	rs55778349 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	473	smart00295	47157315,NP_000206
3718	50403745	Disease	p.Asp169Glu	VAR_019338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019338	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	503	smart00295	47157315,NP_000206
3718	50403745	Disease	p.Glu481Gly	VAR_010493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010493	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	No Domain	N/A	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	59	cd05083	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	59	cd05082	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	291	smart00221	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	214	smart00219	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	95	pfam07714	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	55	cd05115	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	56	cd05116	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	111	cd00192	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	64	cd05077	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	76	cd05037	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	76	cd05076	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	59	cd05078	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	59	cd05040	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	53	cd05085	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	63	cd05058	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	53	cd05084	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	190	smart00220	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	59	cd05114	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	59	cd05113	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	59	cd05112	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	65	cd05065	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	70	cd05038	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	65	cd05066	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	69	cd05061	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	67	cd05092	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	61	cd05067	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	69	cd05062	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	96	cd05056	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	61	cd05068	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	118	cd05057	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	62	cd05052	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	66	cd05064	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	67	cd05063	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	69	cd05109	47157315,NP_000206
3718	50403745	Disease	p.Arg582Trp	VAR_010494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010494	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	172	cd00180	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	66	cd05083	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	66	cd05082	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	299	smart00221	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	221	smart00219	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	102	pfam07714	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	62	cd05115	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	63	cd05116	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	118	cd00192	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	71	cd05077	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	83	cd05037	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	83	cd05076	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	66	cd05078	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	66	cd05040	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	60	cd05085	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	70	cd05058	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	60	cd05084	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	202	smart00220	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	66	cd05114	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	66	cd05113	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	66	cd05112	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	72	cd05065	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	77	cd05038	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	72	cd05066	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	76	cd05061	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	74	cd05092	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	68	cd05067	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	76	cd05062	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	103	cd05056	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	68	cd05068	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	125	cd05057	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	69	cd05052	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	73	cd05064	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	74	cd05063	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	76	cd05109	47157315,NP_000206
3718	50403745	Disease	p.Gly589Ser	VAR_019339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019339	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	179	cd00180	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	233	cd05083	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	235	cd05082	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	988	smart00221	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	682	smart00219	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	464	pfam07714	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	234	cd05115	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	234	cd05116	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	502	cd00192	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	243	cd05077	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	276	cd05037	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	256	cd05076	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	241	cd05078	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	251	cd05040	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	231	cd05085	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	245	cd05058	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	232	cd05084	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	14	cd05106	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	1189	smart00220	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	237	cd05114	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	238	cd05113	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	237	cd05112	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	247	cd05065	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	308	cd05038	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	245	cd05066	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	258	cd05061	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	260	cd05092	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	265	cd05067	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	257	cd05062	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	276	cd05056	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	245	cd05068	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	301	cd05057	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	241	cd05052	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	245	cd05064	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	247	cd05063	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	247	cd05109	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	68	cd05054	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	14	cd05102	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	47	cd05105	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	37	cd05104	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	839	cd00180	47157315,NP_000206
3718	50403745	Disease	p.Cys759Arg	VAR_010497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010497	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	110	cd05107	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	114	cd07854	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	80	cd05585	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	285	cd00180	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	106	cd06632	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	91	cd06631	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	85	cd05606	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	80	cd05607	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	84	cd05633	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	123	cd05123	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	82	cd05579	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	129	cd05572	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	83	cd05602	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	80	cd05608	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	83	cd05577	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	91	cd06611	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	104	cd06654	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	107	cd07865	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	105	cd05053	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	91	cd05584	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	117	cd07866	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	85	cd05582	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	225	cd05055	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	145	cd05057	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	95	cd05111	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	93	cd06625	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	96	cd05036	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	117	cd06652	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	116	cd07851	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	107	cd06638	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	86	cd08225	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	113	cd08215	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	88	cd08217	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	87	cd05605	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	91	cd07859	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	92	cd05613	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	92	cd05583	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	87	cd05578	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	87	cd05632	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	87	cd05631	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	87	cd05630	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	105	cd08528	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	111	cd05122	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	87	cd08223	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	86	cd08218	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	85	cd08219	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	179	cd07842	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	86	cd07860	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	92	cd05614	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	162	cd06606	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	86	cd08221	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	88	cd05615	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	130	cd07834	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	92	cd07853	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	93	cd05587	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	88	cd05616	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	84	cd07836	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	100	cd07857	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	90	cd05045	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	90	cd06630	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	99	cd07832	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	93	cd06651	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	89	cd08530	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	96	cd07863	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	86	cd07861	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	103	cd06648	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	106	cd06658	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	104	cd06657	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	96	cd06637	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	126	cd06608	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	111	cd05098	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	108	cd07850	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	117	cd06614	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	110_G	cd07876	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	101	cd06634	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	101	cd06607	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	208	cd05106	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	93	cd05599	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	94	cd05118	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	141	pfam07714	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	252	smart00219	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	148	pfam00069	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	382	smart00221	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	110	cd07838	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	89	cd05589	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	95	cd06629	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	102	cd06609	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	104	cd05035	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	93	cd05075	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	94	cd05074	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	131_G	cd07840	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	127	cd07830	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	86	cd07831	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	92	cd07835	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	113	cd07829	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	435	COG0515	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	97	cd07858	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	93	cd06653	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	94	cd05063	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	91	cd05039	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	93	cd06645	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	87	cd07847	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	89	cd07871	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	90	cd07872	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	90	cd07873	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	89	cd06642	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	89	cd06641	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	111	cd06635	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	100	cd07843	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	89	cd06613	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	89	cd07844	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	90	cd05148	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	98	cd06612	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	95	cd05108	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	87	cd05069	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	122	cd05056	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	95	cd05109	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	95	cd05088	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	96	cd07856	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	95	cd05110	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	93	cd06646	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	89	cd06626	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	81	cd05115	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	118	cd06639	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	103	cd06655	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	103	cd06656	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	103	cd06647	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	89	cd06640	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	83	cd05619	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	83	cd05592	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	83	cd05591	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	91	cd05058	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	103	cd05037	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	83	cd05603	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	82	cd05594	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	82	cd05593	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	83	cd05575	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	88	cd05601	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	82	cd05571	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	83	cd05590	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	82	cd05595	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	82	cd05086	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	85	cd05042	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	80	cd05085	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	81	cd05041	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	80	cd05084	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	86	cd05044	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	87	cd05040	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	82	cd05087	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	85	cd05570	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	149	cd00192	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	95	cd06917	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	82	cd05116	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	83	cd05047	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	87	cd05060	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	88	cd05612	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	111	cd06623	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	142	cd05573	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	88	cd05609	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	108	cd05574	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	86	cd06617	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	91	cd06605	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	91	cd06621	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	95	cd07862	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	86	cd06615	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	88	cd06610	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	90	cd08224	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	89	cd08228	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	107	cd06619	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	136	cd05580	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	99	cd07837	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	102	cd07841	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	86	cd06622	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	90	cd05089	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	89	cd08229	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	106	cd06636	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	90	cd06649	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	121	cd07855	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	96	cd06616	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	112	cd07864	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	99	cd07849	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	99	cd05103	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	94	cd05093	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	94	cd05094	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	90	cd06650	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	94	cd05092	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	95	cd05091	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	94	cd05090	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	88	cd05073	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	88	cd05068	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	87	cd05067	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	88	cd05034	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	88	cd05072	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	87	cd05070	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	92	cd05065	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	116	cd05033	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	93	cd05064	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	105	cd05038	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	95	cd05079	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	92	cd05066	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	89	cd05052	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	94	cd05081	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	92	cd06620	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	106	cd05096	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	109	cd05095	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	97	cd06624	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	95	cd05050	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	106	cd05097	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	96	cd05062	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	86	cd05114	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	86	cd05059	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	86	cd05112	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	86	cd05113	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	96	cd05061	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	87	cd05071	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	95	cd05080	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	213	cd05054	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	106	cd07880	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	96	cd06644	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	120	cd05043	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	155	cd05046	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	129	cd05051	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	97	cd05049	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	129	cd05032	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	89	cd07870	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	89	cd06643	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	87	cd05082	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	100	cd07852	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	85	cd05083	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	96	cd05048	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	159	cd05102	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	225	cd05105	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	210	cd05104	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	105	cd06659	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	315	smart00220	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	228	cd05107	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	108	cd05101	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	100	cd06618	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	105	cd05100	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	105	cd05099	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	91	cd07845	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	90	cd08222	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	109	cd07833	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	88	cd08220	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	95	cd06628	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	92	cd06627	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	85	cd07839	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	88	cd07846	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	139	cd05581	47157315,NP_000206
3718	50403745	Disease	p.Leu910Ser	VAR_010498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010498	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]	SWISS	91	cd08529	47157315,NP_000206
3730	134048661	Disease	p.Cys163Tyr	VAR_031012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031012	- Kallmann syndrome type 1 (KAL1) [MIM:308700]	SWISS	49	pfam00095	119395746,NP_000207
3730	134048661	Disease	p.Cys163Tyr	VAR_031012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031012	- Kallmann syndrome type 1 (KAL1) [MIM:308700]	SWISS	37	smart00217	119395746,NP_000207
3730	134048661	Disease	p.Cys163Tyr	VAR_031012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031012	- Kallmann syndrome type 1 (KAL1) [MIM:308700]	SWISS	64	cd00199	119395746,NP_000207
3730	134048661	Disease	p.Cys172Arg	VAR_031013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031013	- Kallmann syndrome type 1 (KAL1) [MIM:308700]	SWISS	68	pfam00095	119395746,NP_000207
3730	134048661	Disease	p.Cys172Arg	VAR_031013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031013	- Kallmann syndrome type 1 (KAL1) [MIM:308700]	SWISS	48	smart00217	119395746,NP_000207
3730	134048661	Disease	p.Cys172Arg	VAR_031013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031013	- Kallmann syndrome type 1 (KAL1) [MIM:308700]	SWISS	74	cd00199	119395746,NP_000207
3730	134048661	Disease	p.Arg262Pro	VAR_031014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031014	- Kallmann syndrome type 1 (KAL1) [MIM:308700]	SWISS	178	smart00060	119395746,NP_000207
3730	134048661	Disease	p.Arg262Pro	VAR_031014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031014	- Kallmann syndrome type 1 (KAL1) [MIM:308700]	SWISS	158	cd00063	119395746,NP_000207
3730	134048661	Disease	p.Arg262Pro	VAR_031014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031014	- Kallmann syndrome type 1 (KAL1) [MIM:308700]	SWISS	101	pfam00041	119395746,NP_000207
3730	134048661	Disease	p.Asn267Lys	VAR_007720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007720	- Kallmann syndrome type 1 (KAL1) [MIM:308700]	SWISS	183	smart00060	119395746,NP_000207
3730	134048661	Disease	p.Asn267Lys	VAR_007720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007720	- Kallmann syndrome type 1 (KAL1) [MIM:308700]	SWISS	163	cd00063	119395746,NP_000207
3730	134048661	Disease	p.Asn267Lys	VAR_007720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007720	- Kallmann syndrome type 1 (KAL1) [MIM:308700]	SWISS	107	pfam00041	119395746,NP_000207
3730	134048661	Disease	p.Asn304Ser	VAR_031015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031015	- Kallmann syndrome type 1 (KAL1) [MIM:308700]	SWISS	18	smart00060	119395746,NP_000207
3730	134048661	Disease	p.Asn304Ser	VAR_031015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031015	- Kallmann syndrome type 1 (KAL1) [MIM:308700]	SWISS	32	cd00063	119395746,NP_000207
3730	134048661	Disease	p.Ser396Leu	VAR_031016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031016	- Kallmann syndrome type 1 (KAL1) [MIM:308700]	SWISS	No Domain	N/A	119395746,NP_000207
3730	134048661	Disease	p.Glu514Lys	VAR_012742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012742	rs28937309 Kallmann syndrome type 1 (KAL1) [MIM:308700]	SWISS	No Domain	N/A	119395746,NP_000207
3730	134048661	Disease	p.Phe517Leu	VAR_031017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031017	- Kallmann syndrome type 1 (KAL1) [MIM:308700]	SWISS	No Domain	N/A	119395746,NP_000207
3730	134048661	Disease	p.Trp571Arg	VAR_031018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031018	- Kallmann syndrome type 1 (KAL1) [MIM:308700]	SWISS	24	pfam00041	119395746,NP_000207
3736	223590092	Disease	p.Val174Phe	VAR_001508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001508	- Episodic ataxia type 1 (EA1) [MIM:160120]	SWISS	No Domain	N/A	119395748,NP_000208
3736	223590092	Disease	p.Ile177Arg	VAR_001509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001509	- Episodic ataxia type 1 (EA1) [MIM:160120]	SWISS	No Domain	N/A	119395748,NP_000208
3736	223590092	Disease	p.Phe184Cys	VAR_020830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020830	- Episodic ataxia type 1 (EA1) [MIM:160120]	SWISS	No Domain	N/A	119395748,NP_000208
3736	223590092	Disease	p.Thr226Ala	VAR_001510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001510	- Episodic ataxia type 1 (EA1) [MIM:160120]	SWISS	4	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Thr226Lys	VAR_037100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037100	rs28933383 Myokymia isolated type 1 (MK1) [MIM:160120]	SWISS	4	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Thr226Met	VAR_020831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020831	- Episodic ataxia type 1 (EA1) [MIM:160120]	SWISS	4	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Thr226Arg	VAR_037101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037101	rs28933383 Episodic ataxia type 1 (EA1) [MIM:160120]	SWISS	4	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Arg239Ser	VAR_001511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001511	- Episodic ataxia type 1 (EA1) [MIM:160120]	SWISS	17	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Ala242Pro	VAR_037102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037102	rs28933381 Myokymia isolated type 1 (MK1) [MIM:160120]	SWISS	20	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Pro244His	VAR_037103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037103	rs28933382 Myokymia isolated type 1 (MK1) [MIM:160120]	SWISS	22	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Phe249Ile	VAR_001512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001512	- Episodic ataxia type 1 (EA1) [MIM:160120]	SWISS	48	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Glu325Asp	VAR_020832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020832	- Episodic ataxia type 1 (EA1) [MIM:160120]	SWISS	179	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Leu329Ile	VAR_020833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020833	- Episodic ataxia type 1 (EA1) [MIM:160120]	SWISS	183	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Ser342Ile	VAR_020834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020834	- Episodic ataxia type 1 (EA1) [MIM:160120]	SWISS	11	pfam07885	119395748,NP_000208
3736	223590092	Disease	p.Ser342Ile	VAR_020834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020834	- Episodic ataxia type 1 (EA1) [MIM:160120]	SWISS	196	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Val404Ile	VAR_001513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001513	- Episodic ataxia type 1 (EA1) [MIM:160120]	SWISS	97	pfam07885	119395748,NP_000208
3736	223590092	Disease	p.Val404Ile	VAR_001513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001513	- Episodic ataxia type 1 (EA1) [MIM:160120]	SWISS	404	pfam00520	119395748,NP_000208
3736	223590092	Disease	p.Val408Ala	VAR_001514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001514	- Episodic ataxia type 1 (EA1) [MIM:160120]	SWISS	No Domain	N/A	119395748,NP_000208
3748	212276500	Disease	p.Arg420His	VAR_029530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029530	- Spinocerebellar ataxia type 13 (SCA13) [MIM:605259]	SWISS	139	pfam00520	24497460,NP_004968
3748	212276500	Disease	p.Phe448Leu	VAR_029531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029531	- Spinocerebellar ataxia type 13 (SCA13) [MIM:605259]	SWISS	180	pfam00520	24497460,NP_004968
3753	116416	Disease	p.Thr7Ile	VAR_008897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008897	rs28933384 Jervell and Lange-Nielsen syndrome type 2 (JLNS2) [MIM:612347]	SWISS	7	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Arg32His	VAR_009906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009906	rs17857111 Long QT syndrome type 5 (LQT5) [MIM:176261]	SWISS	33	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Val47Phe	VAR_008898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008898	- Jervell and Lange-Nielsen syndrome type 2 (JLNS2) [MIM:612347]	SWISS	48	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Leu51His	VAR_008899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008899	- Jervell and Lange-Nielsen syndrome type 2 (JLNS2) [MIM:612347]	SWISS	52	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Ser74Leu	VAR_008900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008900	- Long QT syndrome type 5 (LQT5) [MIM:176261]	SWISS	75	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Asp76Asn	VAR_008901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008901	- Jervell and Lange-Nielsen syndrome type 2 (JLNS2) [MIM:612347]	SWISS	77	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Asp76Asn	VAR_008901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008901	- Long QT syndrome type 5 (LQT5) [MIM:176261]	SWISS	77	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Trp87Arg	VAR_008903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008903	- Long QT syndrome type 5 (LQT5) [MIM:176261]	SWISS	88	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Arg98Trp	VAR_009907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009907	- Long QT syndrome type 5 (LQT5) [MIM:176261]	SWISS	99	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Val109Ile	VAR_012802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012802	- Long QT syndrome type 5 (LQT5) [MIM:176261]	SWISS	110	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
3753	116416	Disease	p.Pro127Thr	VAR_009908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009908	- Long QT syndrome type 5 (LQT5) [MIM:176261]	SWISS	128	pfam02060	189095241,NP_001121142|189095239,NP_001121141|60218915,NP_000210|189095237,NP_001121140
9992	6685661	Disease	p.Gln9Glu	VAR_008376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008376	rs16991652 Long QT syndrome type 6 (LQT6) [MIM:603796]	SWISS	No Domain	N/A	27436978,NP_751951
9992	6685661	Disease	p.Arg27Cys	VAR_037795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037795	- Atrial fibrillation familial type 4 (ATFB4) [MIM:611493]	SWISS	No Domain	N/A	27436978,NP_751951
9992	6685661	Disease	p.Met54Thr	VAR_008377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008377	- Long QT syndrome type 6 (LQT6) [MIM:603796]	SWISS	No Domain	N/A	27436978,NP_751951
9992	6685661	Disease	p.Ile57Thr	VAR_008378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008378	- Long QT syndrome type 6 (LQT6) [MIM:603796]	SWISS	No Domain	N/A	27436978,NP_751951
9992	6685661	Disease	p.Phe60Leu	VAR_029334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029334	rs16991654 Long QT syndrome type 6 (LQT6) [MIM:603796]	SWISS	No Domain	N/A	27436978,NP_751951
9992	6685661	Disease	p.Val65Met	VAR_015063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015063	- Long QT syndrome type 6 (LQT6) [MIM:603796]	SWISS	No Domain	N/A	27436978,NP_751951
9992	6685661	Disease	p.Arg77Trp	VAR_035386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035386	- Long QT syndrome type 6 (LQT6) [MIM:603796]	SWISS	No Domain	N/A	27436978,NP_751951
10008	7387903	Disease	p.Arg99His	VAR_058637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058637	- Brugada syndrome type 6 (BRS6) [MIM:613119]	SWISS	No Domain	N/A	4885443,NP_005463
3757	7531135	Disease	p.Phe29Leu	VAR_008907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008907	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	2	cd00130	4557729,NP_000229
3757	7531135	Disease	p.Asn33Thr	VAR_008908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008908	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	6	cd00130	4557729,NP_000229
3757	7531135	Disease	p.Gly47Val	VAR_009909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009909	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	20	cd00130	4557729,NP_000229
3757	7531135	Disease	p.Gly53Arg	VAR_008909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008909	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	29	cd00130	4557729,NP_000229
3757	7531135	Disease	p.Arg56Gln	VAR_008910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008910	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	32	cd00130	4557729,NP_000229
3757	7531135	Disease	p.Thr65Pro	VAR_014371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014371	rs28933095 Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	41	cd00130	4557729,NP_000229
3757	7531135	Disease	p.Cys66Gly	VAR_008911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008911	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	43	cd00130	4557729,NP_000229
3757	7531135	Disease	p.His70Arg	VAR_008912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008912	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	47	cd00130	4557729,NP_000229
3757	7531135	Disease	p.Pro72Gln	VAR_009910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009910	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	49	cd00130	4557729,NP_000229
3757	7531135	Disease	p.Ala78Pro	VAR_008913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008913	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	57	cd00130	4557729,NP_000229
3757	7531135	Disease	p.Leu86Arg	VAR_008914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008914	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	65	cd00130	4557729,NP_000229
3757	7531135	Disease	p.Arg100Gly	VAR_036669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036669	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	8	smart00086	4557729,NP_000229
3757	7531135	Disease	p.Arg100Gly	VAR_036669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036669	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	95	cd00130	4557729,NP_000229
3757	7531135	Disease	p.Arg176Trp	VAR_008915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008915	rs36210422 Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	No Domain	N/A	4557729,NP_000229
3757	7531135	Disease	p.Arg312Cys	VAR_009911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009911	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	No Domain	N/A	4557729,NP_000229
3757	7531135	Disease	p.Pro347Ser	VAR_009912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009912	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	No Domain	N/A	4557729,NP_000229
3757	7531135	Disease	p.Thr436Met	VAR_008916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008916	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	No Domain	N/A	4557729,NP_000229
3757	7531135	Disease	p.Pro451Leu	VAR_014373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014373	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	No Domain	N/A	4557729,NP_000229
3757	7531135	Disease	p.Asn470Asp	VAR_008578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008578	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	17	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Thr474Ile	VAR_008917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008917	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	21	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Arg531Gln	VAR_009913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009913	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	139	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Arg534Cys	VAR_008579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008579	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	145	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Leu552Ser	VAR_008918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008918	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	174	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Ala558Pro	VAR_008919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008919	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	180	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Ala561Thr	VAR_014374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014374	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	183	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Ala561Val	VAR_008580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008580	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	183	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Leu564Pro	VAR_008920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008920	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	186	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Tyr569His	VAR_008921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008921	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	191	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Gly572Cys	VAR_008923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008923	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	194	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Gly572Arg	VAR_008922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008922	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	194	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Arg582Cys	VAR_008581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008581	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	204	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Gly584Ser	VAR_008924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008924	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	3	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Gly584Ser	VAR_008924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008924	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	206	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Trp585Cys	VAR_009914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009914	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	4	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Trp585Cys	VAR_009914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009914	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	207	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Asn588Asp	VAR_008925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008925	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	7	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Asn588Asp	VAR_008925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008925	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	305	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Asn588Lys	VAR_023840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023840	- Short QT syndrome type 1 (SQT1) [MIM:609620]	SWISS	7	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Asn588Lys	VAR_023840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023840	- Short QT syndrome type 1 (SQT1) [MIM:609620]	SWISS	305	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Ile593Arg	VAR_008582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008582	rs28928904 Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	12	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Ile593Arg	VAR_008582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008582	rs28928904 Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	310	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Ile593Thr	VAR_009915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009915	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	12	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Ile593Thr	VAR_009915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009915	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	310	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Gly601Ser	VAR_008926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008926	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	20	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Gly601Ser	VAR_008926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008926	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	318	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Gly604Ser	VAR_008927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008927	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	28	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Gly604Ser	VAR_008927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008927	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	321	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Asp609Asn	VAR_009916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009916	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	33	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Asp609Asn	VAR_009916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009916	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	326	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Tyr611His	VAR_008928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008928	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	39	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Tyr611His	VAR_008928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008928	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	328	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Val612Leu	VAR_008929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008929	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	40	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Val612Leu	VAR_008929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008929	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	329	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Thr613Met	VAR_008930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008930	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	41	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Thr613Met	VAR_008930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008930	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	330	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Ala614Val	VAR_008931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008931	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	43	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Ala614Val	VAR_008931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008931	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	331	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Leu615Val	VAR_014375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014375	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	44	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Leu615Val	VAR_014375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014375	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	332	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Gly626Ser	VAR_014376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014376	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	55	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Gly626Ser	VAR_014376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014376	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	343	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Phe627Leu	VAR_014377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014377	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	56	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Phe627Leu	VAR_014377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014377	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	344	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Gly628Ser	VAR_008583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008583	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	57	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Gly628Ser	VAR_008583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008583	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	345	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Asn629Asp	VAR_008932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008932	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	58	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Asn629Asp	VAR_008932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008932	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	346	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Asn629Lys	VAR_008933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008933	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	58	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Asn629Lys	VAR_008933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008933	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	346	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Asn629Ser	VAR_009179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009179	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	58	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Asn629Ser	VAR_009179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009179	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	346	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Val630Ala	VAR_008935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008935	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	59	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Val630Ala	VAR_008935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008935	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	347	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Val630Leu	VAR_008934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008934	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	59	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Val630Leu	VAR_008934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008934	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	347	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Pro632Ser	VAR_014378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014378	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	64	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Pro632Ser	VAR_014378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014378	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	349	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Asn633Ser	VAR_008936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008936	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	65	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Asn633Ser	VAR_008936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008936	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	350	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Glu637Lys	VAR_014379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014379	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	70	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Glu637Lys	VAR_014379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014379	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	384	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Lys638Glu	VAR_014380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014380	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	78	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Lys638Glu	VAR_014380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014380	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	385	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Phe640Leu	VAR_008937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008937	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	80	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Phe640Leu	VAR_008937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008937	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	387	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Met645Leu	VAR_014382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014382	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	86	pfam07885	4557729,NP_000229
3757	7531135	Disease	p.Met645Leu	VAR_014382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014382	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	392	pfam00520	4557729,NP_000229
3757	7531135	Disease	p.Arg752Gln	VAR_036675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036675	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	11	smart00100	4557729,NP_000229
3757	7531135	Disease	p.Arg752Gln	VAR_036675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036675	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	16	cd00038	4557729,NP_000229
3757	7531135	Disease	p.Arg752Trp	VAR_014383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014383	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	11	smart00100	4557729,NP_000229
3757	7531135	Disease	p.Arg752Trp	VAR_014383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014383	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	16	cd00038	4557729,NP_000229
3757	7531135	Disease	p.Phe805Cys	VAR_014384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014384	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	87	pfam00027	4557729,NP_000229
3757	7531135	Disease	p.Phe805Cys	VAR_014384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014384	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	129	smart00100	4557729,NP_000229
3757	7531135	Disease	p.Phe805Cys	VAR_014384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014384	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	101	cd00038	4557729,NP_000229
3757	7531135	Disease	p.Phe805Ser	VAR_014385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014385	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	87	pfam00027	4557729,NP_000229
3757	7531135	Disease	p.Phe805Ser	VAR_014385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014385	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	129	smart00100	4557729,NP_000229
3757	7531135	Disease	p.Phe805Ser	VAR_014385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014385	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	101	cd00038	4557729,NP_000229
3757	7531135	Disease	p.Ser818Leu	VAR_008938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008938	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	105	pfam00027	4557729,NP_000229
3757	7531135	Disease	p.Ser818Leu	VAR_008938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008938	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	169	smart00100	4557729,NP_000229
3757	7531135	Disease	p.Ser818Leu	VAR_008938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008938	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	132	cd00038	4557729,NP_000229
3757	7531135	Disease	p.Val822Met	VAR_008584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008584	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	109	pfam00027	4557729,NP_000229
3757	7531135	Disease	p.Val822Met	VAR_008584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008584	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	173	smart00100	4557729,NP_000229
3757	7531135	Disease	p.Val822Met	VAR_008584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008584	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	136	cd00038	4557729,NP_000229
3757	7531135	Disease	p.Arg823Trp	VAR_014386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014386	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	110	pfam00027	4557729,NP_000229
3757	7531135	Disease	p.Arg823Trp	VAR_014386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014386	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	177	smart00100	4557729,NP_000229
3757	7531135	Disease	p.Arg823Trp	VAR_014386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014386	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	137	cd00038	4557729,NP_000229
3757	7531135	Disease	p.Asn861Ile	VAR_014387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014387	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	No Domain	N/A	4557729,NP_000229
3757	7531135	Disease	p.Pro917Leu	VAR_014389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014389	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	No Domain	N/A	4557729,NP_000229
3757	7531135	Disease	p.Arg922Trp	VAR_014390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014390	- Long QT syndrome type 2 (LQT2) [MIM:152427]	SWISS	No Domain	N/A	4557729,NP_000229
3758	1352479	Disease	p.Val72Glu	VAR_001548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001548	- Bartter syndrome type 2 (BS2) [MIM:241200]	SWISS	30	pfam01007	4504837,NP_000211
3758	1352479	Disease	p.Asp74Tyr	VAR_001549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001549	- Bartter syndrome type 2 (BS2) [MIM:241200]	SWISS	32	pfam01007	4504837,NP_000211
3758	1352479	Disease	p.Trp99Cys	VAR_001550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001550	- Bartter syndrome type 2 (BS2) [MIM:241200]	SWISS	57	pfam01007	4504837,NP_000211
3758	1352479	Disease	p.Asp108His	VAR_001551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001551	- Bartter syndrome type 2 (BS2) [MIM:241200]	SWISS	66	pfam01007	4504837,NP_000211
3758	1352479	Disease	p.Pro110Leu	VAR_001552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001552	- Bartter syndrome type 2 (BS2) [MIM:241200]	SWISS	68	pfam01007	4504837,NP_000211
3758	1352479	Disease	p.Val122Glu	VAR_001553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001553	- Bartter syndrome type 2 (BS2) [MIM:241200]	SWISS	101	pfam01007	4504837,NP_000211
3758	1352479	Disease	p.Asn124Lys	VAR_019724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019724	- Bartter syndrome type 2 (BS2) [MIM:241200]	SWISS	103	pfam01007	4504837,NP_000211
3758	1352479	Disease	p.Gly167Glu	VAR_001554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001554	- Bartter syndrome type 2 (BS2) [MIM:241200]	SWISS	146	pfam01007	4504837,NP_000211
3758	1352479	Disease	p.Ala198Thr	VAR_001555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001555	- Bartter syndrome type 2 (BS2) [MIM:241200]	SWISS	177	pfam01007	4504837,NP_000211
3758	1352479	Disease	p.Ala214Val	VAR_019725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019725	- Bartter syndrome type 2 (BS2) [MIM:241200]	SWISS	193	pfam01007	4504837,NP_000211
3758	1352479	Disease	p.Ser219Arg	VAR_019726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019726	- Bartter syndrome type 2 (BS2) [MIM:241200]	SWISS	198	pfam01007	4504837,NP_000211
3758	1352479	Disease	p.Val315Gly	VAR_001556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001556	- Bartter syndrome type 2 (BS2) [MIM:241200]	SWISS	296	pfam01007	4504837,NP_000211
3758	1352479	Disease	p.Met357Thr	VAR_019727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019727	rs59172778 Bartter syndrome type 2 (BS2) [MIM:241200]	SWISS	344	pfam01007	4504837,NP_000211
3766	2493605	Disease	p.Arg65Pro	VAR_063059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063059	- Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) [MIM:612780]	SWISS	36	pfam01007	25121966,NP_002232
3766	2493605	Disease	p.Gly77Arg	VAR_063060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063060	- Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) [MIM:612780]	SWISS	48	pfam01007	25121966,NP_002232
3766	2493605	Disease	p.Cys140Arg	VAR_063061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063061	- Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) [MIM:612780]	SWISS	132	pfam01007	25121966,NP_002232
3766	2493605	Disease	p.Thr164Ile	VAR_063062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063062	- Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) [MIM:612780]	SWISS	156	pfam01007	25121966,NP_002232
3766	2493605	Disease	p.Ala167Val	VAR_063063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063063	- Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) [MIM:612780]	SWISS	159	pfam01007	25121966,NP_002232
3766	2493605	Disease	p.Arg297Cys	VAR_063064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063064	- Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) [MIM:612780]	SWISS	292	pfam01007	25121966,NP_002232
3767	76803775	Disease	p.Arg34His	VAR_031329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031329	- Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820]	SWISS	No Domain	N/A	NULL
3767	76803775	Disease	p.Phe35Leu	VAR_026498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026498	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	No Domain	N/A	NULL
3767	76803775	Disease	p.Phe35Val	VAR_026499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026499	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	No Domain	N/A	NULL
3767	76803775	Disease	p.Gly40Asp	VAR_031330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031330	- Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820]	SWISS	5	pfam01007	NULL
3767	76803775	Disease	p.Cys42Arg	VAR_031331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031331	- Transient neonatal diabetes mellitus type 3 (TNDM3) [MIM:610582]	SWISS	7	pfam01007	NULL
3767	76803775	Disease	p.His46Tyr	VAR_031332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031332	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	11	pfam01007	NULL
3767	76803775	Disease	p.Arg50Pro	VAR_026500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026500	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	15	pfam01007	NULL
3767	76803775	Disease	p.Arg50Gln	VAR_031333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031333	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	15	pfam01007	NULL
3767	76803775	Disease	p.Gln52Arg	VAR_026501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026501	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	19	pfam01007	NULL
3767	76803775	Disease	p.Gly53Asp	VAR_031334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031334	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	20	pfam01007	NULL
3767	76803775	Disease	p.Gly53Arg	VAR_026502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026502	- Transient neonatal diabetes mellitus type 3 (TNDM3) [MIM:610582]	SWISS	20	pfam01007	NULL
3767	76803775	Disease	p.Gly53Ser	VAR_026503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026503	- Transient neonatal diabetes mellitus type 3 (TNDM3) [MIM:610582]	SWISS	20	pfam01007	NULL
3767	76803775	Disease	p.Phe55Leu	VAR_031335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031335	- Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820]	SWISS	22	pfam01007	NULL
3767	76803775	Disease	p.Val59Gly	VAR_026504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026504	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	26	pfam01007	NULL
3767	76803775	Disease	p.Val59Met	VAR_026505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026505	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	26	pfam01007	NULL
3767	76803775	Disease	p.Lys67Asn	VAR_026506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026506	- Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820]	SWISS	34	pfam01007	NULL
3767	76803775	Disease	p.Trp91Arg	VAR_026507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026507	- Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820]	SWISS	58	pfam01007	NULL
3767	76803775	Disease	p.Ala101Asp	VAR_031336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031336	- Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820]	SWISS	68	pfam01007	NULL
3767	76803775	Disease	p.Ser116Pro	VAR_031337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031337	- Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820]	SWISS	106	pfam01007	NULL
3767	76803775	Disease	p.Gly134Ala	VAR_031338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031338	- Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820]	SWISS	124	pfam01007	NULL
3767	76803775	Disease	p.Arg136Leu	VAR_031339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031339	- Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820]	SWISS	126	pfam01007	NULL
3767	76803775	Disease	p.Leu147Pro	VAR_001557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001557	rs28936678 Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820]	SWISS	137	pfam01007	NULL
3767	76803775	Disease	p.Leu164Pro	VAR_031341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031341	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	154	pfam01007	NULL
3767	76803775	Disease	p.Cys166Tyr	VAR_031342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031342	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	156	pfam01007	NULL
3767	76803775	Disease	p.Lys170Asn	VAR_026508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026508	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	160	pfam01007	NULL
3767	76803775	Disease	p.Lys170Arg	VAR_026509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026509	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	160	pfam01007	NULL
3767	76803775	Disease	p.Lys170Thr	VAR_031343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031343	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	160	pfam01007	NULL
3767	76803775	Disease	p.Ile182Val	VAR_026510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026510	- Transient neonatal diabetes mellitus type 3 (TNDM3) [MIM:610582]	SWISS	172	pfam01007	NULL
3767	76803775	Disease	p.Arg201Cys	VAR_026511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026511	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	191	pfam01007	NULL
3767	76803775	Disease	p.Arg201His	VAR_026512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026512	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	191	pfam01007	NULL
3767	76803775	Disease	p.Arg201Leu	VAR_031344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031344	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	191	pfam01007	NULL
3767	76803775	Disease	p.Pro254Leu	VAR_026513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026513	- Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820]	SWISS	245	pfam01007	NULL
3767	76803775	Disease	p.His259Arg	VAR_031345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031345	- Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820]	SWISS	250	pfam01007	NULL
3767	76803775	Disease	p.Pro266Leu	VAR_031346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031346	- Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820]	SWISS	257	pfam01007	NULL
3767	76803775	Disease	p.Ile296Leu	VAR_026514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026514	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	287	pfam01007	NULL
3767	76803775	Disease	p.Arg301His	VAR_031347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031347	- Familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820]	SWISS	292	pfam01007	NULL
3767	76803775	Disease	p.Glu322Lys	VAR_026515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026515	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	315	pfam01007	NULL
3767	76803775	Disease	p.Tyr330Cys	VAR_026516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026516	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	323	pfam01007	NULL
3767	76803775	Disease	p.Tyr330Ser	VAR_031348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031348	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	323	pfam01007	NULL
3767	76803775	Disease	p.Phe333Ile	VAR_026517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026517	- Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]	SWISS	326	pfam01007	NULL
3767	76803775	Disease	p.Leu355Pro	VAR_008663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008663	- Non-insulin-dependent diabetes mellitus (NIDDM)	SWISS	357	pfam01007	NULL
3769	13878543	Disease	p.Arg162Trp	VAR_043509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043509	- Snowflake vitreoretinal degeneration (SVD) [MIM:193230]	SWISS	163	pfam01007	156119627,NP_002233
NULL	300680976	Disease	p.Thr140Met	VAR_063286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063286	- Thyrotoxic hypokalemic periodic paralysis (TTPP2) [MIM:613239]	SWISS	No Domain	N/A	303227939,NP_001181887
NULL	300680976	Disease	p.Arg205His	VAR_063287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063287	- Thyrotoxic hypokalemic periodic paralysis (TTPP2) [MIM:613239]	SWISS	No Domain	N/A	303227939,NP_001181887
NULL	300680976	Disease	p.Thr354Met	VAR_063288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063288	- Thyrotoxic hypokalemic periodic paralysis (TTPP2) [MIM:613239]	SWISS	No Domain	N/A	303227939,NP_001181887
NULL	300680976	Disease	p.Lys366Arg	VAR_063289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063289	- Thyrotoxic hypokalemic periodic paralysis (TTPP2) [MIM:613239]	SWISS	No Domain	N/A	303227939,NP_001181887
3759	54037433	Disease	p.Arg67Trp	VAR_017851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017851	- Long QT syndrome type 7 (LQT7) [MIM:170390]	SWISS	21	pfam01007	4504835,NP_000882
3759	54037433	Disease	p.Asp71Val	VAR_017852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017852	- Long QT syndrome type 7 (LQT7) [MIM:170390]	SWISS	25	pfam01007	4504835,NP_000882
3759	54037433	Disease	p.Asp172Asn	VAR_023842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023842	- Short QT syndrome type 3 (SQT3) [MIM:609622]	SWISS	150	pfam01007	4504835,NP_000882
3759	54037433	Disease	p.Pro186Leu	VAR_017854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017854	- Long QT syndrome type 7 (LQT7) [MIM:170390]	SWISS	164	pfam01007	4504835,NP_000882
3759	54037433	Disease	p.Asn216His	VAR_017855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017855	- Long QT syndrome type 7 (LQT7) [MIM:170390]	SWISS	194	pfam01007	4504835,NP_000882
3759	54037433	Disease	p.Arg218Trp	VAR_017856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017856	- Long QT syndrome type 7 (LQT7) [MIM:170390]	SWISS	196	pfam01007	4504835,NP_000882
3759	54037433	Disease	p.Gly300Val	VAR_017857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017857	- Long QT syndrome type 7 (LQT7) [MIM:170390]	SWISS	280	pfam01007	4504835,NP_000882
3759	54037433	Disease	p.Val302Met	VAR_017858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017858	- Long QT syndrome type 7 (LQT7) [MIM:170390]	SWISS	282	pfam01007	4504835,NP_000882
3762	296434543	Disease	p.Gly387Arg	VAR_063766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063766	- Long QT syndrome type 13 (LQT13) [MIM:613485]	SWISS	375	pfam01007	24797141,NP_000881
51305	13431426	Disease	p.Gly236Arg	VAR_054373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054373	- Birk-Barel syndrome (BIBAS) [MIM:612292]	SWISS	94	pfam07885	7706135,NP_057685
3778	46396283	Disease	p.Asp434Gly	VAR_023821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023821	- Generalized epilepsy and paroxysmal dyskinesia (GEPD) [MIM:609446]	SWISS	No Domain	N/A	238624130,NP_001154824
3784	6166005	Disease	p.Tyr111Cys	VAR_009918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009918	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	No Domain	N/A	32479527,NP_000209
3784	6166005	Disease	p.Ser140Gly	VAR_015742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015742	- Atrial fibrillation familial type 3 (ATFB3) [MIM:607554]	SWISS	No Domain	N/A	32479527,NP_000209
3784	6166005	Disease	p.Phe157Cys	VAR_008124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008124	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	No Domain	N/A	32479527,NP_000209
3784	6166005	Disease	p.Glu160Lys	VAR_009919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009919	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	3	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Gly168Arg	VAR_001516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001516	rs179489 Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	11	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Arg174Cys	VAR_001517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001517	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	17	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Arg174His	VAR_008939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008939	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	17	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Ala178Pro	VAR_001518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001518	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	21	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Ala178Thr	VAR_009920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009920	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	21	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Gly179Ser	VAR_009921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009921	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	22	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Tyr184Ser	VAR_008125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008125	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	27	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Gly189Arg	VAR_001519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001519	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	32	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Arg190Gln	VAR_001520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001520	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	45	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Ala194Pro	VAR_009922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009922	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	49	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Gly216Arg	VAR_001521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001521	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	71	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Ser225Leu	VAR_009923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009923	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	130	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Asp242Asn	VAR_008940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008940	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	157	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Arg243Cys	VAR_010933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010933	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	158	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Arg243His	VAR_008941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008941	- Jervell and Lange-Nielsen syndrome type 1 (JLNS1) [MIM:220400]	SWISS	158	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Trp248Arg	VAR_008942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008942	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	163	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Leu250His	VAR_008943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008943	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	165	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Val254Met	VAR_001522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001522	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	169	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Glu261Asp	VAR_008944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008944	- Jervell and Lange-Nielsen syndrome type 1 (JLNS1) [MIM:220400]	SWISS	177	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Glu261Lys	VAR_001523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001523	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	177	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Leu266Pro	VAR_009924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009924	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	182	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Gly269Asp	VAR_001524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001524	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	185	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Gly269Asp	VAR_001524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001524	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	3	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Gly269Ser	VAR_009925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009925	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	185	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Gly269Ser	VAR_009925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009925	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	3	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Leu273Phe	VAR_001525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001525	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	189	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Leu273Phe	VAR_001525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001525	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	7	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Tyr281Cys	VAR_008945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008945	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	197	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Tyr281Cys	VAR_008945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008945	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	15	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Ala300Thr	VAR_001526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001526	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	329	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Ala300Thr	VAR_001526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001526	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	40	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Trp305Ser	VAR_001527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001527	- Jervell and Lange-Nielsen syndrome type 1 (JLNS1) [MIM:220400]	SWISS	334	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Trp305Ser	VAR_001527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001527	- Jervell and Lange-Nielsen syndrome type 1 (JLNS1) [MIM:220400]	SWISS	46	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Gly306Arg	VAR_001528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001528	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	335	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Gly306Arg	VAR_001528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001528	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	47	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Val307Leu	VAR_023841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023841	- Short QT syndrome type 2 (SQT2) [MIM:609621]	SWISS	336	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Val307Leu	VAR_023841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023841	- Short QT syndrome type 2 (SQT2) [MIM:609621]	SWISS	48	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Thr309Arg	VAR_001529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001529	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	338	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Thr309Arg	VAR_001529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001529	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	50	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Val310Ile	VAR_009926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009926	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	339	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Val310Ile	VAR_009926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009926	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	51	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Thr311Ile	VAR_009927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009927	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	340	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Thr311Ile	VAR_009927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009927	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	52	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Thr312Ile	VAR_001530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001530	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	341	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Thr312Ile	VAR_001530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001530	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	53	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Ile313Met	VAR_001531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001531	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	342	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Ile313Met	VAR_001531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001531	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	54	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Gly314Ser	VAR_001532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001532	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	343	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Gly314Ser	VAR_001532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001532	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	55	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Tyr315Cys	VAR_008946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008946	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	344	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Tyr315Cys	VAR_008946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008946	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	56	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Tyr315Ser	VAR_001533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001533	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	344	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Tyr315Ser	VAR_001533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001533	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	56	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Asp317Asn	VAR_001534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001534	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	346	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Asp317Asn	VAR_001534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001534	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	58	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Lys318Asn	VAR_008947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008947	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	347	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Lys318Asn	VAR_008947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008947	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	59	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Pro320Ala	VAR_001535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001535	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	349	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Pro320Ala	VAR_001535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001535	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	64	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Gly325Arg	VAR_001536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001536	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	384	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Gly325Arg	VAR_001536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001536	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	70	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Ala341Glu	VAR_001538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001538	rs12720459 Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	401	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Ala341Glu	VAR_001538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001538	rs12720459 Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	94	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Ala341Val	VAR_001539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001539	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	401	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Ala341Val	VAR_001539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001539	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	94	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Leu342Phe	VAR_001540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001540	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	402	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Leu342Phe	VAR_001540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001540	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	95	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Ala344Val	VAR_001541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001541	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	404	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Ala344Val	VAR_001541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001541	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	97	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Gly345Glu	VAR_001542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001542	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	405	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Gly345Glu	VAR_001542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001542	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	101	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Gly345Arg	VAR_008126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008126	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	405	pfam00520	32479527,NP_000209
3784	6166005	Disease	p.Gly345Arg	VAR_008126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008126	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	101	pfam07885	32479527,NP_000209
3784	6166005	Disease	p.Ser349Trp	VAR_009928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009928	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	No Domain	N/A	32479527,NP_000209
3784	6166005	Disease	p.Leu353Pro	VAR_009180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009180	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	No Domain	N/A	32479527,NP_000209
3784	6166005	Disease	p.Arg366Pro	VAR_001543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001543	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	No Domain	N/A	32479527,NP_000209
3784	6166005	Disease	p.Arg366Gln	VAR_009929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009929	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	No Domain	N/A	32479527,NP_000209
3784	6166005	Disease	p.Arg366Trp	VAR_008948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008948	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	No Domain	N/A	32479527,NP_000209
3784	6166005	Disease	p.Ala371Thr	VAR_001544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001544	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	No Domain	N/A	32479527,NP_000209
3784	6166005	Disease	p.Ser373Pro	VAR_008127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008127	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	No Domain	N/A	32479527,NP_000209
3784	6166005	Disease	p.Thr391Ile	VAR_009930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009930	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	No Domain	N/A	32479527,NP_000209
3784	6166005	Disease	p.Trp392Arg	VAR_008128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008128	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	No Domain	N/A	32479527,NP_000209
3784	6166005	Disease	p.Val417Met	VAR_010934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010934	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	No Domain	N/A	32479527,NP_000209
3784	6166005	Disease	p.Pro448Arg	VAR_009931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009931	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	No Domain	N/A	32479527,NP_000209
3784	6166005	Disease	p.Ala525Thr	VAR_009181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009181	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	108	pfam03520	32479527,NP_000209
3784	6166005	Disease	p.Arg533Trp	VAR_008949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008949	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	116	pfam03520	32479527,NP_000209
3784	6166005	Disease	p.Arg539Trp	VAR_008950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008950	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	122	pfam03520	32479527,NP_000209
3784	6166005	Disease	p.Arg555Cys	VAR_001545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001545	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	138	pfam03520	32479527,NP_000209
3784	6166005	Disease	p.Ser566Phe	VAR_009932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009932	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	149	pfam03520	32479527,NP_000209
3784	6166005	Disease	p.Arg583Cys	VAR_009933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009933	rs17221854 Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	178	pfam03520	32479527,NP_000209
3784	6166005	Disease	p.Thr587Met	VAR_008951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008951	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	182	pfam03520	32479527,NP_000209
3784	6166005	Disease	p.Gly589Asp	VAR_008952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008952	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	184	pfam03520	32479527,NP_000209
3784	6166005	Disease	p.Arg591His	VAR_008953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008953	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	186	pfam03520	32479527,NP_000209
3784	6166005	Disease	p.Arg594Gln	VAR_009934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009934	- Long QT syndrome type 1 (LQT1) [MIM:192500]	SWISS	189	pfam03520	32479527,NP_000209
3785	14285389	Disease	p.Arg207Trp	VAR_026987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026987	- Benign neonatal epilepsy type 1 (EBN1) [MIM:121200]	SWISS	148	pfam00520	26051264,NP_742105
3785	14285389	Disease	p.Met208Val	VAR_026988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026988	- Benign neonatal epilepsy type 1 (EBN1) [MIM:121200]	SWISS	149	pfam00520	26051264,NP_742105
3785	14285389	Disease	p.Arg214Trp	VAR_010929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010929	rs28939684 Benign neonatal epilepsy type 1 (EBN1) [MIM:121200]	SWISS	159	pfam00520	26051264,NP_742105
3785	14285389	Disease	p.His228Gln	VAR_026989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026989	- Benign neonatal epilepsy type 1 (EBN1) [MIM:121200]	SWISS	174	pfam00520	26051264,NP_742105
3785	14285389	Disease	p.Leu243Phe	VAR_026990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026990	- Benign neonatal epilepsy type 1 (EBN1) [MIM:121200]	SWISS	7	pfam07885	26051264,NP_742105
3785	14285389	Disease	p.Leu243Phe	VAR_026990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026990	- Benign neonatal epilepsy type 1 (EBN1) [MIM:121200]	SWISS	189	pfam00520	26051264,NP_742105
3785	14285389	Disease	p.Ser247Trp	VAR_026991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026991	- Benign neonatal epilepsy type 1 (EBN1) [MIM:121200]	SWISS	11	pfam07885	26051264,NP_742105
3785	14285389	Disease	p.Ser247Trp	VAR_026991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026991	- Benign neonatal epilepsy type 1 (EBN1) [MIM:121200]	SWISS	193	pfam00520	26051264,NP_742105
3785	14285389	Disease	p.Tyr284Cys	VAR_010930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010930	rs28939683 Benign neonatal epilepsy type 1 (EBN1) [MIM:121200]	SWISS	63	pfam07885	26051264,NP_742105
3785	14285389	Disease	p.Tyr284Cys	VAR_010930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010930	rs28939683 Benign neonatal epilepsy type 1 (EBN1) [MIM:121200]	SWISS	348	pfam00520	26051264,NP_742105
3785	14285389	Disease	p.Ala306Thr	VAR_010931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010931	- Benign neonatal epilepsy type 1 (EBN1) [MIM:121200]	SWISS	94	pfam07885	26051264,NP_742105
3785	14285389	Disease	p.Ala306Thr	VAR_010931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010931	- Benign neonatal epilepsy type 1 (EBN1) [MIM:121200]	SWISS	401	pfam00520	26051264,NP_742105
3785	14285389	Disease	p.Arg333Gln	VAR_026992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026992	- Benign neonatal epilepsy type 1 (EBN1) [MIM:121200]	SWISS	No Domain	N/A	26051264,NP_742105
3785	14285389	Disease	p.Lys554Asn	VAR_026993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026993	- Benign neonatal epilepsy type 1 (EBN1) [MIM:121200]	SWISS	111	pfam03520	26051264,NP_742105
3786	5921785	Disease	p.Asp305Gly	VAR_026994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026994	- Benign neonatal epilepsy type 2 (EBN2) [MIM:121201]	SWISS	330	pfam00520	4758630,NP_004510
3786	5921785	Disease	p.Asp305Gly	VAR_026994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026994	- Benign neonatal epilepsy type 2 (EBN2) [MIM:121201]	SWISS	41	pfam07885	4758630,NP_004510
3786	5921785	Disease	p.Trp309Arg	VAR_010935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010935	- Benign neonatal epilepsy type 2 (EBN2) [MIM:121201]	SWISS	334	pfam00520	4758630,NP_004510
3786	5921785	Disease	p.Trp309Arg	VAR_010935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010935	- Benign neonatal epilepsy type 2 (EBN2) [MIM:121201]	SWISS	46	pfam07885	4758630,NP_004510
3786	5921785	Disease	p.Gly310Val	VAR_001546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001546	- Benign neonatal epilepsy type 2 (EBN2) [MIM:121201]	SWISS	335	pfam00520	4758630,NP_004510
3786	5921785	Disease	p.Gly310Val	VAR_001546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001546	- Benign neonatal epilepsy type 2 (EBN2) [MIM:121201]	SWISS	47	pfam07885	4758630,NP_004510
9132	259016259	Disease	p.Leu274His	VAR_010936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010936	- Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101]	SWISS	44	pfam07885	26638653,NP_004691
9132	259016259	Disease	p.Leu274His	VAR_010936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010936	- Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101]	SWISS	332	pfam00520	26638653,NP_004691
9132	259016259	Disease	p.Trp276Ser	VAR_008726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008726	- Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101]	SWISS	46	pfam07885	26638653,NP_004691
9132	259016259	Disease	p.Trp276Ser	VAR_008726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008726	- Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101]	SWISS	334	pfam00520	26638653,NP_004691
9132	259016259	Disease	p.Leu281Ser	VAR_010937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010937	- Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101]	SWISS	51	pfam07885	26638653,NP_004691
9132	259016259	Disease	p.Leu281Ser	VAR_010937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010937	- Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101]	SWISS	339	pfam00520	26638653,NP_004691
9132	259016259	Disease	p.Gly285Cys	VAR_008727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008727	- Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101]	SWISS	55	pfam07885	26638653,NP_004691
9132	259016259	Disease	p.Gly285Cys	VAR_008727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008727	- Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101]	SWISS	343	pfam00520	26638653,NP_004691
9132	259016259	Disease	p.Gly285Ser	VAR_001547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001547	rs28937588 Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101]	SWISS	55	pfam07885	26638653,NP_004691
9132	259016259	Disease	p.Gly285Ser	VAR_001547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001547	rs28937588 Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101]	SWISS	343	pfam00520	26638653,NP_004691
9132	259016259	Disease	p.Gly321Ser	VAR_008728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008728	rs28939710 Deafness autosomal dominant type 2A (DFNA2A) [MIM:600101]	SWISS	No Domain	N/A	26638653,NP_004691
169522	26006804	Disease	p.Leu126Gln	VAR_027632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027632	- Cone dystrophy retinal type 3B (RCD3B) [MIM:610356]	SWISS	29	pfam02214	19424136,NP_598004
169522	26006804	Disease	p.Trp188Cys	VAR_027633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027633	- Cone dystrophy retinal type 3B (RCD3B) [MIM:610356]	SWISS	104	pfam02214	19424136,NP_598004
169522	26006804	Disease	p.Ser256Trp	VAR_027634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027634	- Cone dystrophy retinal type 3B (RCD3B) [MIM:610356]	SWISS	No Domain	N/A	19424136,NP_598004
169522	26006804	Disease	p.Ala259Val	VAR_027635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027635	- Cone dystrophy retinal type 3B (RCD3B) [MIM:610356]	SWISS	No Domain	N/A	19424136,NP_598004
169522	26006804	Disease	p.Gly459Asp	VAR_027637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027637	- Cone dystrophy retinal type 3B (RCD3B) [MIM:610356]	SWISS	343	pfam00520	19424136,NP_598004
169522	26006804	Disease	p.Gly459Asp	VAR_027637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027637	- Cone dystrophy retinal type 3B (RCD3B) [MIM:610356]	SWISS	55	pfam07885	19424136,NP_598004
8242	117949812	Disease	p.Asp87Gly	VAR_032986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032986	- Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]	SWISS	8	smart00501	109255243,NP_004178
8242	117949812	Disease	p.Asp87Gly	VAR_032986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032986	- Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]	SWISS	12	pfam01388	109255243,NP_004178
8242	117949812	Disease	p.Ala388Pro	VAR_022730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022730	- Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]	SWISS	No Domain	N/A	109255243,NP_004178
8242	117949812	Disease	p.Asp402Tyr	VAR_022731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022731	- Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]	SWISS	No Domain	N/A	109255243,NP_004178
8242	117949812	Disease	p.Ser451Arg	VAR_032987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032987	- Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]	SWISS	No Domain	N/A	109255243,NP_004178
8242	117949812	Disease	p.Phe642Leu	VAR_032988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032988	- Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]	SWISS	No Domain	N/A	109255243,NP_004178
8242	117949812	Disease	p.Glu698Lys	VAR_022732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022732	- Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]	SWISS	No Domain	N/A	109255243,NP_004178
8242	117949812	Disease	p.Leu731Phe	VAR_022733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022733	- Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]	SWISS	27	pfam02928	109255243,NP_004178
8242	117949812	Disease	p.Arg750Trp	VAR_032989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032989	- Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]	SWISS	61	pfam02928	109255243,NP_004178
8242	117949812	Disease	p.Tyr751Cys	VAR_032990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032990	- Mental retardation syndromic X-linked JARID1C-related (MRXSJ) [MIM:300534]	SWISS	62	pfam02928	109255243,NP_004178
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	267	cd05091	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	270	cd05048	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	267	cd05090	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	265	cd05092	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	270	cd06611	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	282	cd05097	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	318	cd05096	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	276	cd05050	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	330	cd05046	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	278	cd05049	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	293	cd05095	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	337	cd05051	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	263	cd05093	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	326	cd05094	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	250	cd05064	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	252	cd05063	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	245	cd05577	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	240	cd05608	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	288	cd05043	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	384	cd05105	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	386	cd05107	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	368	cd05104	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	244	cd05605	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	240	cd05589	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	1194	smart00220	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	249	cd08229	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	338	cd07866	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	366	cd05106	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	296	cd05118	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	356	cd07833	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	515	cd05581	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	387	cd07840	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	292	cd07846	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	251	cd06625	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	272	cd07835	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	264	cd05088	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	241	cd06642	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	241	cd06640	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	241	cd06641	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	257	cd06644	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	250	cd08529	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	249	cd08530	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	254	cd08221	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	238	cd05083	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	244	cd05070	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	248	cd05039	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	245	cd05072	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	280	cd05148	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	240	cd05082	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	257	cd05034	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	245	cd05073	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	270	cd05067	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	250	cd05068	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	244	cd05069	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	291	cd07864	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	263	cd05061	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	281	cd05056	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	259	cd05089	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	244	cd05071	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	265	cd05036	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	262	cd05062	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	311	cd05032	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	246	cd05052	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	303	cd07852	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	253	cd07839	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	278	cd05100	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	294	cd05053	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	277	cd05099	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	257	cd06628	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	270	cd06618	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	311	cd07851	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	249	cd06651	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	277	cd06610	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	383	cd05055	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	252	cd05110	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	252	cd05109	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	446	cd07834	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	252	cd06631	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	323	cd08215	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	268	cd06632	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	288	cd06627	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	415	cd06606	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	299	cd07832	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	339	cd05122	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	315	cd07857	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	322	cd07841	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	253	cd06630	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	250	cd08220	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	270	cd05045	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	249	cd07871	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	325	cd07845	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	257	cd06637	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	240	cd08219	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	296	cd06614	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	281	cd05037	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	293	cd06626	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	251	cd08224	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	314	cd08217	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	250	cd05058	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	507	cd00192	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	239	cd05116	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	246	cd05060	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	239	cd05041	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	259	cd05087	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	254	cd05086	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	260	cd05044	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	258	cd05042	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	236	cd05085	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	237	cd05084	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	256	cd05040	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	235	cd05619	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	251	cd05592	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	269	cd06622	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	259	cd06648	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	246	cd08222	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	249	cd08228	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	243	cd05113	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	242	cd05112	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	242	cd05114	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	252	cd05108	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	265	cd05080	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	252	cd05111	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	250	cd05066	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	313	cd05038	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	286	cd05033	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	267	cd05079	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	267	cd05081	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	252	cd05065	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	280	cd05101	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	271	cd06619	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	259	cd06659	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	273	cd07854	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	454	pfam00069	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	381	cd07830	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	469	pfam07714	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	687	smart00219	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	350	cd07829	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	244	cd05059	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	270	cd05075	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	256	cd05074	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	267	cd05035	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	283	cd05098	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	306	cd05057	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	322	cd05102	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	324	cd05103	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	373	cd05054	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	246	cd05078	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	267	cd06616	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	246	cd05570	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	295	cd06608	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	264	cd06612	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	253	cd06613	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	248	cd05077	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	258	cd06917	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	848	cd00180	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	909	cd05123	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	239	cd05115	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	252	cd05047	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	268	cd05578	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	254	cd06617	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	326	cd06605	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	1170	COG0515	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	326	cd06623	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	280	cd06609	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	253	smart00750	11321597,NP_002244
3791	9087218	Disease	p.Pro1147Ser	VAR_063147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063147	- Hemangioma capillary infantile (HCI) [MIM:602089]	SWISS	262	cd06629	11321597,NP_002244
11081	20138539	Disease	p.Thr215Lys	VAR_012753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012753	- The autosomal recessive cornea plana 2 (CNA2) [MIM:217300]	SWISS	No Domain	N/A	5901992,NP_008966
11081	20138539	Disease	p.Asn247Ser	VAR_012754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012754	- The autosomal recessive cornea plana 2 (CNA2) [MIM:217300]	SWISS	No Domain	N/A	5901992,NP_008966
3795	1730044	Disease	p.Gly40Arg	VAR_006072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006072	- Fructosuria [MIM:229800]	SWISS	46	pfam00294	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	VAR_006072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006072	- Fructosuria [MIM:229800]	SWISS	99	cd01168	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	VAR_006072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006072	- Fructosuria [MIM:229800]	SWISS	39	cd01164	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	VAR_006072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006072	- Fructosuria [MIM:229800]	SWISS	88	cd00287	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	VAR_006072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006072	- Fructosuria [MIM:229800]	SWISS	24	cd01940	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	VAR_006072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006072	- Fructosuria [MIM:229800]	SWISS	35	cd01174	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	VAR_006072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006072	- Fructosuria [MIM:229800]	SWISS	37	cd01945	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	VAR_006072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006072	- Fructosuria [MIM:229800]	SWISS	63	COG0524	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	VAR_006072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006072	- Fructosuria [MIM:229800]	SWISS	51	cd01939	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	VAR_006072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006072	- Fructosuria [MIM:229800]	SWISS	36	cd01947	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	VAR_006072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006072	- Fructosuria [MIM:229800]	SWISS	52	cd01942	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	VAR_006072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006072	- Fructosuria [MIM:229800]	SWISS	46	cd01167	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	VAR_006072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006072	- Fructosuria [MIM:229800]	SWISS	41	cd01166	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	VAR_006072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006072	- Fructosuria [MIM:229800]	SWISS	36	cd01944	4557693,NP_000212
3795	1730044	Disease	p.Gly40Arg	VAR_006072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006072	- Fructosuria [MIM:229800]	SWISS	24	cd01937	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	VAR_006073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006073	- Fructosuria [MIM:229800]	SWISS	49	pfam00294	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	VAR_006073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006073	- Fructosuria [MIM:229800]	SWISS	102	cd01168	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	VAR_006073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006073	- Fructosuria [MIM:229800]	SWISS	45	cd01164	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	VAR_006073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006073	- Fructosuria [MIM:229800]	SWISS	91	cd00287	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	VAR_006073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006073	- Fructosuria [MIM:229800]	SWISS	27	cd01940	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	VAR_006073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006073	- Fructosuria [MIM:229800]	SWISS	38	cd01174	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	VAR_006073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006073	- Fructosuria [MIM:229800]	SWISS	40	cd01945	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	VAR_006073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006073	- Fructosuria [MIM:229800]	SWISS	67	COG0524	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	VAR_006073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006073	- Fructosuria [MIM:229800]	SWISS	57	cd01939	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	VAR_006073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006073	- Fructosuria [MIM:229800]	SWISS	39	cd01947	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	VAR_006073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006073	- Fructosuria [MIM:229800]	SWISS	55	cd01942	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	VAR_006073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006073	- Fructosuria [MIM:229800]	SWISS	49	cd01167	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	VAR_006073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006073	- Fructosuria [MIM:229800]	SWISS	44	cd01166	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	VAR_006073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006073	- Fructosuria [MIM:229800]	SWISS	39	cd01944	4557693,NP_000212
3795	1730044	Disease	p.Ala43Thr	VAR_006073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006073	- Fructosuria [MIM:229800]	SWISS	32	cd01937	4557693,NP_000212
9897	2495719	Disease	p.Asn471Asp	VAR_031955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031955	- Spastic paraplegia autosomal dominant type 8 (SPG8) [MIM:603563]	SWISS	498	pfam10266	120952851,NP_055661
9897	2495719	Disease	p.Leu619Phe	VAR_031956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031956	- Spastic paraplegia autosomal dominant type 8 (SPG8) [MIM:603563]	SWISS	665	pfam10266	120952851,NP_055661
9897	2495719	Disease	p.Val626Phe	VAR_031957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031957	- Spastic paraplegia autosomal dominant type 8 (SPG8) [MIM:603563]	SWISS	672	pfam10266	120952851,NP_055661
9856	74747200	Disease	p.Ala311Thr	VAR_023838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023838	rs4504469 Dyslexia type 2 (DYX2) [MIM:600202]	SWISS	No Domain	N/A	270265855,NP_001161847|134304840,NP_055624
23095	116242605	Disease	p.Gln98Leu	VAR_011515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011515	- Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]	SWISS	157	pfam00225	NULL
23095	116242605	Disease	p.Gln98Leu	VAR_011515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011515	- Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]	SWISS	129	cd01364	NULL
23095	116242605	Disease	p.Gln98Leu	VAR_011515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011515	- Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]	SWISS	123	cd01369	NULL
23095	116242605	Disease	p.Gln98Leu	VAR_011515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011515	- Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]	SWISS	92	cd01363	NULL
23095	116242605	Disease	p.Gln98Leu	VAR_011515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011515	- Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]	SWISS	114	cd01366	NULL
23095	116242605	Disease	p.Gln98Leu	VAR_011515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011515	- Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]	SWISS	129	cd01371	NULL
23095	116242605	Disease	p.Gln98Leu	VAR_011515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011515	- Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]	SWISS	87	cd01373	NULL
23095	116242605	Disease	p.Gln98Leu	VAR_011515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011515	- Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]	SWISS	108	cd01367	NULL
23095	116242605	Disease	p.Gln98Leu	VAR_011515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011515	- Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]	SWISS	114	cd01368	NULL
23095	116242605	Disease	p.Gln98Leu	VAR_011515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011515	- Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]	SWISS	129	cd01365	NULL
23095	116242605	Disease	p.Gln98Leu	VAR_011515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011515	- Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]	SWISS	112	cd01372	NULL
23095	116242605	Disease	p.Gln98Leu	VAR_011515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011515	- Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]	SWISS	164	COG5059	NULL
23095	116242605	Disease	p.Gln98Leu	VAR_011515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011515	- Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]	SWISS	182	cd01374	NULL
23095	116242605	Disease	p.Gln98Leu	VAR_011515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011515	- Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]	SWISS	169	cd01370	NULL
23095	116242605	Disease	p.Gln98Leu	VAR_011515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011515	- Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]	SWISS	98	cd01376	NULL
23095	116242605	Disease	p.Gln98Leu	VAR_011515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011515	- Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]	SWISS	166	cd01375	NULL
23095	116242605	Disease	p.Gln98Leu	VAR_011515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011515	- Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]	SWISS	265	cd00106	NULL
23095	116242605	Disease	p.Gln98Leu	VAR_011515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011515	- Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]	SWISS	312	smart00129	NULL
55605	50400977	Disease	p.Met356Thr	VAR_019399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019399	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	400	cd01366	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	VAR_019399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019399	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	421	cd01369	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	VAR_019399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019399	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	498	cd01364	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	VAR_019399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019399	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	584	COG5059	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	VAR_019399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019399	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	442	cd01370	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	VAR_019399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019399	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	496	cd01374	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	VAR_019399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019399	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	385	cd01376	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	VAR_019399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019399	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	993	cd00106	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	VAR_019399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019399	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	443	cd01375	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	VAR_019399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019399	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	1139	smart00129	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	VAR_019399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019399	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	625	pfam00225	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	VAR_019399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019399	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	359	cd01373	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	VAR_019399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019399	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	369	cd01371	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	VAR_019399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019399	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	529	cd01367	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	VAR_019399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019399	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	507	cd01368	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	VAR_019399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019399	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	503	cd01372	291167762,NP_001166935
55605	50400977	Disease	p.Met356Thr	VAR_019399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019399	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	438	cd01365	291167762,NP_001166935
55605	50400977	Disease	p.Met947Arg	VAR_019400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019400	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	No Domain	N/A	291167762,NP_001166935
55605	50400977	Disease	p.Met947Thr	VAR_027021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027021	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	No Domain	N/A	291167762,NP_001166935
55605	50400977	Disease	p.Met947Val	VAR_019401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019401	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	No Domain	N/A	291167762,NP_001166935
55605	50400977	Disease	p.Arg954Gln	VAR_019402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019402	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	No Domain	N/A	291167762,NP_001166935
55605	50400977	Disease	p.Arg954Trp	VAR_019403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019403	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	No Domain	N/A	291167762,NP_001166935
55605	50400977	Disease	p.Ile1010Thr	VAR_019404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019404	- Congenital fibrosis of extraocular muscles type 1 (CFEOM1) [MIM:135700]	SWISS	No Domain	N/A	291167762,NP_001166935
3798	143811412	Disease	p.Tyr63Cys	VAR_058741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058741	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	63	cd01373	45446749,NP_004975
3798	143811412	Disease	p.Tyr63Cys	VAR_058741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058741	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	105	cd01365	45446749,NP_004975
3798	143811412	Disease	p.Tyr63Cys	VAR_058741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058741	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	87	cd01372	45446749,NP_004975
3798	143811412	Disease	p.Tyr63Cys	VAR_058741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058741	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	83	cd01367	45446749,NP_004975
3798	143811412	Disease	p.Tyr63Cys	VAR_058741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058741	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	105	cd01371	45446749,NP_004975
3798	143811412	Disease	p.Tyr63Cys	VAR_058741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058741	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	99	cd01369	45446749,NP_004975
3798	143811412	Disease	p.Tyr63Cys	VAR_058741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058741	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	105	cd01364	45446749,NP_004975
3798	143811412	Disease	p.Tyr63Cys	VAR_058741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058741	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	145	cd01370	45446749,NP_004975
3798	143811412	Disease	p.Tyr63Cys	VAR_058741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058741	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	157	cd01374	45446749,NP_004975
3798	143811412	Disease	p.Tyr63Cys	VAR_058741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058741	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	286	smart00129	45446749,NP_004975
3798	143811412	Disease	p.Tyr63Cys	VAR_058741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058741	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	91	cd01366	45446749,NP_004975
3798	143811412	Disease	p.Tyr63Cys	VAR_058741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058741	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	90	cd01368	45446749,NP_004975
3798	143811412	Disease	p.Tyr63Cys	VAR_058741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058741	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	236	cd00106	45446749,NP_004975
3798	143811412	Disease	p.Tyr63Cys	VAR_058741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058741	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	142	cd01375	45446749,NP_004975
3798	143811412	Disease	p.Tyr63Cys	VAR_058741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058741	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	73	cd01376	45446749,NP_004975
3798	143811412	Disease	p.Tyr63Cys	VAR_058741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058741	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	140	COG5059	45446749,NP_004975
3798	143811412	Disease	p.Tyr63Cys	VAR_058741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058741	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	67	cd01363	45446749,NP_004975
3798	143811412	Disease	p.Tyr63Cys	VAR_058741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058741	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	130	pfam00225	45446749,NP_004975
3798	143811412	Disease	p.Met198Thr	VAR_058742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058742	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	210	cd01373	45446749,NP_004975
3798	143811412	Disease	p.Met198Thr	VAR_058742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058742	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	274	cd01365	45446749,NP_004975
3798	143811412	Disease	p.Met198Thr	VAR_058742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058742	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	286	cd01372	45446749,NP_004975
3798	143811412	Disease	p.Met198Thr	VAR_058742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058742	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	290	cd01367	45446749,NP_004975
3798	143811412	Disease	p.Met198Thr	VAR_058742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058742	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	241	cd01371	45446749,NP_004975
3798	143811412	Disease	p.Met198Thr	VAR_058742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058742	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	304	cd01369	45446749,NP_004975
3798	143811412	Disease	p.Met198Thr	VAR_058742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058742	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	367	cd01364	45446749,NP_004975
3798	143811412	Disease	p.Met198Thr	VAR_058742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058742	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	311	cd01370	45446749,NP_004975
3798	143811412	Disease	p.Met198Thr	VAR_058742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058742	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	331	cd01374	45446749,NP_004975
3798	143811412	Disease	p.Met198Thr	VAR_058742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058742	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	726	smart00129	45446749,NP_004975
3798	143811412	Disease	p.Met198Thr	VAR_058742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058742	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	260	cd01366	45446749,NP_004975
3798	143811412	Disease	p.Met198Thr	VAR_058742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058742	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	362	cd01368	45446749,NP_004975
3798	143811412	Disease	p.Met198Thr	VAR_058742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058742	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	648	cd00106	45446749,NP_004975
3798	143811412	Disease	p.Met198Thr	VAR_058742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058742	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	324	cd01375	45446749,NP_004975
3798	143811412	Disease	p.Met198Thr	VAR_058742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058742	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	226	cd01376	45446749,NP_004975
3798	143811412	Disease	p.Met198Thr	VAR_058742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058742	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	411	COG5059	45446749,NP_004975
3798	143811412	Disease	p.Met198Thr	VAR_058742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058742	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	222	cd01363	45446749,NP_004975
3798	143811412	Disease	p.Met198Thr	VAR_058742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058742	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	442	pfam00225	45446749,NP_004975
3798	143811412	Disease	p.Arg204Gln	VAR_058743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058743	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	216	cd01373	45446749,NP_004975
3798	143811412	Disease	p.Arg204Gln	VAR_058743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058743	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	280	cd01365	45446749,NP_004975
3798	143811412	Disease	p.Arg204Gln	VAR_058743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058743	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	292	cd01372	45446749,NP_004975
3798	143811412	Disease	p.Arg204Gln	VAR_058743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058743	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	296	cd01367	45446749,NP_004975
3798	143811412	Disease	p.Arg204Gln	VAR_058743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058743	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	247	cd01371	45446749,NP_004975
3798	143811412	Disease	p.Arg204Gln	VAR_058743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058743	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	310	cd01369	45446749,NP_004975
3798	143811412	Disease	p.Arg204Gln	VAR_058743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058743	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	373	cd01364	45446749,NP_004975
3798	143811412	Disease	p.Arg204Gln	VAR_058743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058743	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	317	cd01370	45446749,NP_004975
3798	143811412	Disease	p.Arg204Gln	VAR_058743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058743	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	337	cd01374	45446749,NP_004975
3798	143811412	Disease	p.Arg204Gln	VAR_058743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058743	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	732	smart00129	45446749,NP_004975
3798	143811412	Disease	p.Arg204Gln	VAR_058743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058743	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	266	cd01366	45446749,NP_004975
3798	143811412	Disease	p.Arg204Gln	VAR_058743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058743	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	368	cd01368	45446749,NP_004975
3798	143811412	Disease	p.Arg204Gln	VAR_058743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058743	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	655	cd00106	45446749,NP_004975
3798	143811412	Disease	p.Arg204Gln	VAR_058743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058743	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	330	cd01375	45446749,NP_004975
3798	143811412	Disease	p.Arg204Gln	VAR_058743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058743	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	232	cd01376	45446749,NP_004975
3798	143811412	Disease	p.Arg204Gln	VAR_058743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058743	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	422	COG5059	45446749,NP_004975
3798	143811412	Disease	p.Arg204Gln	VAR_058743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058743	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	228	cd01363	45446749,NP_004975
3798	143811412	Disease	p.Arg204Gln	VAR_058743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058743	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	448	pfam00225	45446749,NP_004975
3798	143811412	Disease	p.Glu251Lys	VAR_058744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	268	cd01373	45446749,NP_004975
3798	143811412	Disease	p.Glu251Lys	VAR_058744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	346	cd01365	45446749,NP_004975
3798	143811412	Disease	p.Glu251Lys	VAR_058744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	425	cd01372	45446749,NP_004975
3798	143811412	Disease	p.Glu251Lys	VAR_058744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	438	cd01367	45446749,NP_004975
3798	143811412	Disease	p.Glu251Lys	VAR_058744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	308	cd01371	45446749,NP_004975
3798	143811412	Disease	p.Glu251Lys	VAR_058744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	357	cd01369	45446749,NP_004975
3798	143811412	Disease	p.Glu251Lys	VAR_058744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	437	cd01364	45446749,NP_004975
3798	143811412	Disease	p.Glu251Lys	VAR_058744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	367	cd01370	45446749,NP_004975
3798	143811412	Disease	p.Glu251Lys	VAR_058744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	399	cd01374	45446749,NP_004975
3798	143811412	Disease	p.Glu251Lys	VAR_058744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	968	smart00129	45446749,NP_004975
3798	143811412	Disease	p.Glu251Lys	VAR_058744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	324	cd01366	45446749,NP_004975
3798	143811412	Disease	p.Glu251Lys	VAR_058744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	427	cd01368	45446749,NP_004975
3798	143811412	Disease	p.Glu251Lys	VAR_058744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	797	cd00106	45446749,NP_004975
3798	143811412	Disease	p.Glu251Lys	VAR_058744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	379	cd01375	45446749,NP_004975
3798	143811412	Disease	p.Glu251Lys	VAR_058744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	310	cd01376	45446749,NP_004975
3798	143811412	Disease	p.Glu251Lys	VAR_058744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	485	COG5059	45446749,NP_004975
3798	143811412	Disease	p.Glu251Lys	VAR_058744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	632	cd01363	45446749,NP_004975
3798	143811412	Disease	p.Glu251Lys	VAR_058744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	525	pfam00225	45446749,NP_004975
3798	143811412	Disease	p.Lys253Asn	VAR_046744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	270	cd01373	45446749,NP_004975
3798	143811412	Disease	p.Lys253Asn	VAR_046744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	348	cd01365	45446749,NP_004975
3798	143811412	Disease	p.Lys253Asn	VAR_046744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	427	cd01372	45446749,NP_004975
3798	143811412	Disease	p.Lys253Asn	VAR_046744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	440	cd01367	45446749,NP_004975
3798	143811412	Disease	p.Lys253Asn	VAR_046744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	310	cd01371	45446749,NP_004975
3798	143811412	Disease	p.Lys253Asn	VAR_046744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	359	cd01369	45446749,NP_004975
3798	143811412	Disease	p.Lys253Asn	VAR_046744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	439	cd01364	45446749,NP_004975
3798	143811412	Disease	p.Lys253Asn	VAR_046744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	369	cd01370	45446749,NP_004975
3798	143811412	Disease	p.Lys253Asn	VAR_046744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	401	cd01374	45446749,NP_004975
3798	143811412	Disease	p.Lys253Asn	VAR_046744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	970	smart00129	45446749,NP_004975
3798	143811412	Disease	p.Lys253Asn	VAR_046744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	326	cd01366	45446749,NP_004975
3798	143811412	Disease	p.Lys253Asn	VAR_046744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	429	cd01368	45446749,NP_004975
3798	143811412	Disease	p.Lys253Asn	VAR_046744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	799	cd00106	45446749,NP_004975
3798	143811412	Disease	p.Lys253Asn	VAR_046744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	381	cd01375	45446749,NP_004975
3798	143811412	Disease	p.Lys253Asn	VAR_046744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	312	cd01376	45446749,NP_004975
3798	143811412	Disease	p.Lys253Asn	VAR_046744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	487	COG5059	45446749,NP_004975
3798	143811412	Disease	p.Lys253Asn	VAR_046744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	634	cd01363	45446749,NP_004975
3798	143811412	Disease	p.Lys253Asn	VAR_046744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046744	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	527	pfam00225	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	VAR_032842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032842	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	273	cd01373	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	VAR_032842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032842	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	351	cd01365	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	VAR_032842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032842	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	430	cd01372	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	VAR_032842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032842	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	443	cd01367	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	VAR_032842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032842	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	313	cd01371	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	VAR_032842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032842	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	362	cd01369	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	VAR_032842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032842	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	442	cd01364	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	VAR_032842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032842	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	372	cd01370	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	VAR_032842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032842	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	404	cd01374	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	VAR_032842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032842	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	973	smart00129	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	VAR_032842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032842	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	329	cd01366	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	VAR_032842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032842	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	432	cd01368	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	VAR_032842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032842	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	802	cd00106	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	VAR_032842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032842	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	384	cd01375	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	VAR_032842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032842	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	315	cd01376	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	VAR_032842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032842	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	493	COG5059	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	VAR_032842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032842	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	637	cd01363	45446749,NP_004975
3798	143811412	Disease	p.Asn256Ser	VAR_032842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032842	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	530	pfam00225	45446749,NP_004975
3798	143811412	Disease	p.Lys257Asn	VAR_058746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058746	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	274	cd01373	45446749,NP_004975
3798	143811412	Disease	p.Lys257Asn	VAR_058746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058746	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	352	cd01365	45446749,NP_004975
3798	143811412	Disease	p.Lys257Asn	VAR_058746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058746	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	431	cd01372	45446749,NP_004975
3798	143811412	Disease	p.Lys257Asn	VAR_058746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058746	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	444	cd01367	45446749,NP_004975
3798	143811412	Disease	p.Lys257Asn	VAR_058746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058746	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	314	cd01371	45446749,NP_004975
3798	143811412	Disease	p.Lys257Asn	VAR_058746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058746	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	363	cd01369	45446749,NP_004975
3798	143811412	Disease	p.Lys257Asn	VAR_058746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058746	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	443	cd01364	45446749,NP_004975
3798	143811412	Disease	p.Lys257Asn	VAR_058746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058746	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	373	cd01370	45446749,NP_004975
3798	143811412	Disease	p.Lys257Asn	VAR_058746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058746	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	405	cd01374	45446749,NP_004975
3798	143811412	Disease	p.Lys257Asn	VAR_058746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058746	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	974	smart00129	45446749,NP_004975
3798	143811412	Disease	p.Lys257Asn	VAR_058746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058746	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	330	cd01366	45446749,NP_004975
3798	143811412	Disease	p.Lys257Asn	VAR_058746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058746	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	433	cd01368	45446749,NP_004975
3798	143811412	Disease	p.Lys257Asn	VAR_058746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058746	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	803	cd00106	45446749,NP_004975
3798	143811412	Disease	p.Lys257Asn	VAR_058746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058746	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	385	cd01375	45446749,NP_004975
3798	143811412	Disease	p.Lys257Asn	VAR_058746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058746	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	316	cd01376	45446749,NP_004975
3798	143811412	Disease	p.Lys257Asn	VAR_058746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058746	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	494	COG5059	45446749,NP_004975
3798	143811412	Disease	p.Lys257Asn	VAR_058746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058746	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	638	cd01363	45446749,NP_004975
3798	143811412	Disease	p.Lys257Asn	VAR_058746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058746	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	531	pfam00225	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	VAR_033108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033108	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	293	cd01373	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	VAR_033108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033108	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	402	cd01365	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	VAR_033108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033108	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	467	cd01372	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	VAR_033108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033108	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	473	cd01367	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	VAR_033108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033108	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	333	cd01371	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	VAR_033108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033108	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	385	cd01369	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	VAR_033108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033108	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	462	cd01364	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	VAR_033108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033108	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	406	cd01370	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	VAR_033108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033108	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	454	cd01374	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	VAR_033108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033108	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	1101	smart00129	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	VAR_033108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033108	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	355	cd01366	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	VAR_033108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033108	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	471	cd01368	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	VAR_033108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033108	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	944	cd00106	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	VAR_033108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033108	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	407	cd01375	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	VAR_033108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033108	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	340	cd01376	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	VAR_033108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033108	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	543	COG5059	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	VAR_033108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033108	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	656	cd01363	45446749,NP_004975
3798	143811412	Disease	p.Tyr276Cys	VAR_033108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033108	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	581	pfam00225	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	VAR_032843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032843	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	301	cd01373	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	VAR_032843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032843	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	406	cd01365	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	VAR_032843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032843	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	471	cd01372	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	VAR_032843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032843	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	477	cd01367	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	VAR_032843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032843	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	337	cd01371	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	VAR_032843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032843	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	389	cd01369	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	VAR_032843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032843	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	466	cd01364	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	VAR_032843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032843	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	410	cd01370	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	VAR_032843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032843	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	458	cd01374	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	VAR_032843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032843	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	1105	smart00129	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	VAR_032843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032843	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	359	cd01366	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	VAR_032843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032843	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	475	cd01368	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	VAR_032843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032843	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	948	cd00106	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	VAR_032843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032843	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	411	cd01375	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	VAR_032843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032843	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	344	cd01376	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	VAR_032843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032843	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	547	COG5059	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	VAR_032843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032843	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	660	cd01363	45446749,NP_004975
3798	143811412	Disease	p.Arg280Cys	VAR_032843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032843	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	585	pfam00225	45446749,NP_004975
3798	143811412	Disease	p.Arg280His	VAR_058747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058747	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	301	cd01373	45446749,NP_004975
3798	143811412	Disease	p.Arg280His	VAR_058747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058747	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	406	cd01365	45446749,NP_004975
3798	143811412	Disease	p.Arg280His	VAR_058747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058747	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	471	cd01372	45446749,NP_004975
3798	143811412	Disease	p.Arg280His	VAR_058747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058747	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	477	cd01367	45446749,NP_004975
3798	143811412	Disease	p.Arg280His	VAR_058747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058747	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	337	cd01371	45446749,NP_004975
3798	143811412	Disease	p.Arg280His	VAR_058747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058747	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	389	cd01369	45446749,NP_004975
3798	143811412	Disease	p.Arg280His	VAR_058747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058747	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	466	cd01364	45446749,NP_004975
3798	143811412	Disease	p.Arg280His	VAR_058747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058747	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	410	cd01370	45446749,NP_004975
3798	143811412	Disease	p.Arg280His	VAR_058747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058747	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	458	cd01374	45446749,NP_004975
3798	143811412	Disease	p.Arg280His	VAR_058747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058747	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	1105	smart00129	45446749,NP_004975
3798	143811412	Disease	p.Arg280His	VAR_058747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058747	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	359	cd01366	45446749,NP_004975
3798	143811412	Disease	p.Arg280His	VAR_058747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058747	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	475	cd01368	45446749,NP_004975
3798	143811412	Disease	p.Arg280His	VAR_058747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058747	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	948	cd00106	45446749,NP_004975
3798	143811412	Disease	p.Arg280His	VAR_058747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058747	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	411	cd01375	45446749,NP_004975
3798	143811412	Disease	p.Arg280His	VAR_058747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058747	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	344	cd01376	45446749,NP_004975
3798	143811412	Disease	p.Arg280His	VAR_058747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058747	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	547	COG5059	45446749,NP_004975
3798	143811412	Disease	p.Arg280His	VAR_058747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058747	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	660	cd01363	45446749,NP_004975
3798	143811412	Disease	p.Arg280His	VAR_058747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058747	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	585	pfam00225	45446749,NP_004975
3798	143811412	Disease	p.Arg280Leu	VAR_058748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058748	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	301	cd01373	45446749,NP_004975
3798	143811412	Disease	p.Arg280Leu	VAR_058748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058748	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	406	cd01365	45446749,NP_004975
3798	143811412	Disease	p.Arg280Leu	VAR_058748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058748	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	471	cd01372	45446749,NP_004975
3798	143811412	Disease	p.Arg280Leu	VAR_058748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058748	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	477	cd01367	45446749,NP_004975
3798	143811412	Disease	p.Arg280Leu	VAR_058748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058748	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	337	cd01371	45446749,NP_004975
3798	143811412	Disease	p.Arg280Leu	VAR_058748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058748	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	389	cd01369	45446749,NP_004975
3798	143811412	Disease	p.Arg280Leu	VAR_058748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058748	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	466	cd01364	45446749,NP_004975
3798	143811412	Disease	p.Arg280Leu	VAR_058748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058748	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	410	cd01370	45446749,NP_004975
3798	143811412	Disease	p.Arg280Leu	VAR_058748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058748	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	458	cd01374	45446749,NP_004975
3798	143811412	Disease	p.Arg280Leu	VAR_058748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058748	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	1105	smart00129	45446749,NP_004975
3798	143811412	Disease	p.Arg280Leu	VAR_058748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058748	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	359	cd01366	45446749,NP_004975
3798	143811412	Disease	p.Arg280Leu	VAR_058748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058748	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	475	cd01368	45446749,NP_004975
3798	143811412	Disease	p.Arg280Leu	VAR_058748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058748	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	948	cd00106	45446749,NP_004975
3798	143811412	Disease	p.Arg280Leu	VAR_058748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058748	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	411	cd01375	45446749,NP_004975
3798	143811412	Disease	p.Arg280Leu	VAR_058748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058748	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	344	cd01376	45446749,NP_004975
3798	143811412	Disease	p.Arg280Leu	VAR_058748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058748	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	547	COG5059	45446749,NP_004975
3798	143811412	Disease	p.Arg280Leu	VAR_058748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058748	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	660	cd01363	45446749,NP_004975
3798	143811412	Disease	p.Arg280Leu	VAR_058748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058748	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	585	pfam00225	45446749,NP_004975
3798	143811412	Disease	p.Ala361Val	VAR_032844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032844	- Spastic paraplegia type 10 (SPG10) [MIM:604187]	SWISS	644	COG5059	45446749,NP_004975
84623	55736065	Disease	p.Arg40Trp	VAR_054828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054828	- Mental retardation autosomal dominant type 4 (MRD4) [MIM:612581]	SWISS	No Domain	N/A	26006461,NP_115920
84623	55736065	Disease	p.Arg336Gln	VAR_054829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054829	- Mental retardation autosomal dominant type 4 (MRD4) [MIM:612581]	SWISS	3	cd07693	26006461,NP_115920
84623	55736065	Disease	p.Arg336Gln	VAR_054829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054829	- Mental retardation autosomal dominant type 4 (MRD4) [MIM:612581]	SWISS	2	pfam07679	26006461,NP_115920
84623	55736065	Disease	p.Val731Phe	VAR_054830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054830	- Mental retardation autosomal dominant type 4 (MRD4) [MIM:612581]	SWISS	No Domain	N/A	26006461,NP_115920
84634	125987836	Disease	p.Leu102Pro	VAR_043906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043906	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	42	pfam00001	62865887,NP_115940
84634	125987836	Disease	p.Leu148Ser	VAR_021392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021392	rs28939719 Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	100	pfam00001	62865887,NP_115940
84634	125987836	Disease	p.Cys223Arg	VAR_021393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021393	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	200	pfam00001	62865887,NP_115940
84634	125987836	Disease	p.Arg297Leu	VAR_021394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021394	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	400	pfam00001	62865887,NP_115940
84634	125987836	Disease	p.Arg386Pro	VAR_043907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043907	- Central precocious puberty [MIM:176400]	SWISS	No Domain	N/A	62865887,NP_115940
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	2	cd05036	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	2	cd05062	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	2	cd05032	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	2	cd05089	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	2	cd05071	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	2	cd05056	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	2	cd05061	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	2	cd05148	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	2	cd05068	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	2	cd05070	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	2	cd05083	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	2	cd05073	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	2	cd05082	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	2	cd05069	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	2	cd05072	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	2	cd05034	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	2	cd05067	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	2	cd05039	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	2	cd05052	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	34	cd05106	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	14	cd05098	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	11	cd05101	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	8	cd05053	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	8	cd05108	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	8	cd05100	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	8	cd05099	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	3	cd05057	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	3	cd05054	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	3	cd05103	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	3	cd05102	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	33	cd05107	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	33	cd05105	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	33	cd05055	4557695,NP_000213
3815	125472	Disease	p.Glu583Lys	VAR_004104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004104	- Piebaldism [MIM:172800]	SWISS	31	cd05104	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	3	cd05036	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	3	cd05062	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	3	cd05032	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	2_G	cd05089	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	3	cd05071	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	3	cd05056	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	3	cd05061	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	3	cd05148	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	3	cd05068	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	3	cd05070	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	3	cd05083	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	3	cd05073	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	3	cd05082	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	3	cd05069	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	3	cd05072	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	3	cd05034	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	3	cd05067	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	3	cd05039	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	3	cd05052	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	35	cd05106	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	15	cd05098	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	12	cd05101	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	9	cd05053	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	9	cd05108	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	9	cd05100	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	9	cd05099	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	4	cd05057	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	4	cd05054	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	4	cd05103	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	4	cd05102	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	2	cd05046	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	2	cd05049	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	2	cd05096	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	2	cd05095	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	2	cd05097	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	2	cd05051	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	2	cd05050	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	2	cd05092	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	2	cd05094	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	2	cd05093	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	2	cd05090	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	2	cd05048	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	2	cd05091	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	2	cd05063	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	2	cd05064	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	34	cd05107	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	34	cd05105	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	34	cd05055	4557695,NP_000213
3815	125472	Disease	p.Phe584Cys	VAR_033129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033129	rs28933371 Piebaldism [MIM:172800]	SWISS	32	cd05104	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	3	cd05036	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	3	cd05062	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	3	cd05032	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	2_G	cd05089	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	3	cd05071	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	3	cd05056	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	3	cd05061	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	3	cd05148	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	3	cd05068	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	3	cd05070	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	3	cd05083	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	3	cd05073	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	3	cd05082	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	3	cd05069	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	3	cd05072	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	3	cd05034	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	3	cd05067	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	3	cd05039	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	3	cd05052	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	35	cd05106	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	15	cd05098	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	12	cd05101	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	9	cd05053	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	9	cd05108	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	9	cd05100	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	9	cd05099	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	4	cd05057	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	4	cd05054	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	4	cd05103	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	4	cd05102	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	2	cd05046	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	2	cd05049	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	2	cd05096	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	2	cd05095	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	2	cd05097	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	2	cd05051	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	2	cd05050	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	2	cd05092	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	2	cd05094	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	2	cd05093	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	2	cd05090	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	2	cd05048	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	2	cd05091	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	2	cd05063	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	2	cd05064	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	34	cd05107	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	34	cd05105	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	34	cd05055	4557695,NP_000213
3815	125472	Disease	p.Phe584Leu	VAR_004105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004105	- Piebaldism [MIM:172800]	SWISS	32	cd05104	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	3	smart00220	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	15	cd06605	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	22	cd05581	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	15	cd07833	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	15	cd06617	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	7	cd05123	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	10	cd00180	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	20	cd05036	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	20	cd05062	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	22	cd05032	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	16	cd05089	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	20	cd05071	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	20	cd05056	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	20	cd05061	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	20	cd05148	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	20	cd05068	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	20	cd05070	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	20	cd05083	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	20	cd05073	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	20	cd05082	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	20	cd05069	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	20	cd05072	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	20	cd05034	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	20	cd05067	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	20	cd05039	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	20	cd05052	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	52	cd05106	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	18	cd05114	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	18	cd05113	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	18	cd05080	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	21	cd05109	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	21	cd05088	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	18	cd05033	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	18	cd05079	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	19	cd05038	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	18	cd05066	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	14	cd06631	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	32	cd05098	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	14	cd08217	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	9	cd05044	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	9	cd05087	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	9	cd05041	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	9	cd05042	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	9	cd05085	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	9	cd05086	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	14	cd08215	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	9	cd05084	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	9	cd05040	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	9	cd00192	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	9	cd05047	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	9	cd05060	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	20	cd06608	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	29	cd05101	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	26	cd05053	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	21	cd05108	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	26	cd05100	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	26	cd05099	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	18	cd05059	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	13	smart00221	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	17	pfam07714	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	13	smart00219	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	13	pfam00069	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	14	cd07829	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	13	cd05075	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	13	cd05074	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	13	cd05035	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	32	cd05057	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	21	cd05054	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	21	cd05103	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	21	cd05102	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	15	cd06627	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	21	cd06606	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	14	cd07857	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	21	cd05122	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	14	cd05045	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	9	cd05115	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	19	cd05046	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	19	cd05049	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	19	cd05096	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	19	cd05095	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	19	cd05097	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	27	cd05051	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	19	cd05050	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	19	cd05092	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	19	cd05094	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	19	cd05093	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	19	cd05090	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	19	cd05048	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	19	cd05091	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	19	cd05063	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	19	cd05064	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	51	cd05107	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	51	cd05105	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	51	cd05055	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	49	cd05104	4557695,NP_000213
3815	125472	Disease	p.Gly601Arg	VAR_033130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033130	- Piebaldism [MIM:172800]	SWISS	13	cd07830	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	200	smart00220	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	10	cd06659	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	66	cd06605	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	117	cd05581	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	86	cd07833	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	65	cd06617	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	99	cd05123	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	177	cd00180	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	74	cd05036	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	74	cd05062	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	105	cd05032	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	68	cd05089	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	66	cd05071	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	101	cd05056	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	74	cd05061	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	68	cd05148	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	66	cd05068	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	66	cd05070	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	64	cd05083	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	66	cd05073	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	64	cd05082	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	66	cd05069	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	66	cd05072	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	66	cd05034	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	66	cd05067	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	68	cd05039	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	67	cd05052	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	24	cd06654	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	108	cd05106	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	64	cd05114	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	64	cd05113	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	71	cd05080	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	74	cd05109	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	73	cd05088	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	94	cd05033	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	71	cd05079	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	75	cd05038	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	70	cd05066	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	67	cd06631	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	11	cd05112	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	9	cd06652	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	89	cd05098	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	64	cd08217	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	64	cd05044	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	60	cd05087	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	59	cd05041	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	63	cd05042	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	58	cd05085	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	60	cd05086	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	83	cd08215	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	58	cd05084	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	64	cd05040	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	116	cd00192	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	61	cd05047	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	66	cd05060	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	93	cd06608	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	86	cd05101	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	14	cd05110	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	83	cd05053	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	74	cd05108	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	83	cd05100	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	83	cd05099	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	7	cd08219	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	7	cd06628	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	7	cd08223	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	7	cd05605	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	64	cd05059	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	297	smart00221	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	100	pfam07714	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	219	smart00219	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	101	pfam00069	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	73	cd07829	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	65	cd05075	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	66	cd05074	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	76	cd05035	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	123	cd05057	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	76	cd05054	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	76	cd05103	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	76	cd05102	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	69	cd06627	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	129	cd06606	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	67	cd07857	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	81	cd05122	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	68	cd05045	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	11	cd06639	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	14	cd05111	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	11	cd05081	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	60	cd05115	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	20	cd06622	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	133	cd05046	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	73	cd05049	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	84	cd05096	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	87	cd05095	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	84	cd05097	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	106	cd05051	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	73	cd05050	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	72	cd05092	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	72	cd05094	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	72	cd05093	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	72	cd05090	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	74	cd05048	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	73	cd05091	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	72	cd05063	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	71	cd05064	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	106	cd05107	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	106	cd05105	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	106	cd05055	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	104	cd05104	4557695,NP_000213
3815	125472	Disease	p.Leu656Pro	VAR_033131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033131	- Piebaldism [MIM:172800]	SWISS	98	cd07830	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	290	smart00220	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	18	cd06659	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	77	cd06605	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	123	cd05581	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	95	cd07833	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	68_G	cd06617	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	107	cd05123	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	240	cd00180	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	82	cd05036	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	82	cd05062	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	115	cd05032	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	76	cd05089	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	73	cd05071	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	108	cd05056	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	82	cd05061	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	76	cd05148	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	74	cd05068	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	73	cd05070	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	72	cd05083	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	74	cd05073	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	72	cd05082	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	73	cd05069	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	74	cd05072	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	74	cd05034	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	73	cd05067	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	77	cd05039	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	75	cd05052	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	32	cd06654	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	116	cd05106	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	72	cd05114	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	72	cd05113	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	79	cd05080	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	82	cd05109	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	81	cd05088	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	102	cd05033	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	79	cd05079	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	83	cd05038	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	78	cd05066	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	71_G	cd06631	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	7_G	cd05608	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	18_G	cd05112	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	17	cd06652	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	9	cd07864	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	97	cd05098	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	72	cd08217	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	72	cd05044	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	68	cd05087	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	67	cd05041	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	71	cd05042	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	66	cd05085	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	68	cd05086	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	91	cd08215	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	66	cd05084	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	73	cd05040	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	135	cd00192	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	69	cd05047	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	74	cd05060	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	101	cd06608	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	94	cd05101	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	21_G	cd05110	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	91	cd05053	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	82	cd05108	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	91	cd05100	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	91	cd05099	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	15	cd08219	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	15	cd06628	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	15	cd08223	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	15	cd05605	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	3	cd05065	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	72	cd05059	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	363	smart00221	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	119	pfam07714	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	233	smart00219	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	127	pfam00069	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	100	cd07829	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	69_G	cd05075	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	74	cd05074	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	84	cd05035	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	131	cd05057	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	85	cd05054	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	85	cd05103	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	85	cd05102	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	78	cd06627	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	148	cd06606	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	69_G	cd07857	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	97	cd05122	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	76	cd05045	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	19	cd06639	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	21_G	cd05111	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	19	cd05081	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	68	cd05115	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	26	cd06622	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	141	cd05046	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	83	cd05049	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	92	cd05096	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	95	cd05095	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	92	cd05097	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	115	cd05051	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	81	cd05050	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	80	cd05092	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	80	cd05094	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	80	cd05093	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	80	cd05090	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	82	cd05048	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	81	cd05091	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	80	cd05063	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	79	cd05064	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	114	cd05107	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	114	cd05105	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	114	cd05055	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	112	cd05104	4557695,NP_000213
3815	125472	Disease	p.Gly664Arg	VAR_004106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004106	- Piebaldism [MIM:172800]	SWISS	100_G	cd07830	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	130	cd06625	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	134	cd06644	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	167	cd07834	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	172	cd06623	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	125	cd07846	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	130	cd08529	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	130	cd06620	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	125	cd05578	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	426	smart00220	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	141	cd06659	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	142	cd06605	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	240	cd05581	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	146	cd07833	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	129	cd06617	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	640	cd05123	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	365	cd00180	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	142	cd05036	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	143	cd05062	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	188	cd05032	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	143	cd05089	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	126	cd05071	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	160	cd05056	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	144	cd05061	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	129	cd05148	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	129	cd05068	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	126	cd05070	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	124	cd05083	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	127	cd05073	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	126	cd05082	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	126	cd05069	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	127	cd05072	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	127	cd05034	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	126	cd05067	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	130	cd05039	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	128	cd05052	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	119	cd05116	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	143	cd06618	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	134	cd06621	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	155	cd07866	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	140	cd06654	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	127	cd06613	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	246	cd05106	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	124	cd05114	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	125	cd05113	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	131	cd05080	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	133	cd05109	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	148	cd05088	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	162	cd05033	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	133	cd05079	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	152	cd05038	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	130	cd05066	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	136	cd06610	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	126	cd05078	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	129	cd05077	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	140	cd06648	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	125	cd08225	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	47	smart00750	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	134	cd06629	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	128	cd06631	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	143	cd05037	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	127	cd06630	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	145	cd07845	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	129	cd06611	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	127	cd06643	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	129	cd05058	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	139	cd06616	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	133	cd05118	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	121	cd05608	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	139	cd06612	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	124	cd05112	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	154	cd06652	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	130	cd07847	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	142	cd07864	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	164	cd05098	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	142	cd07837	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	156	cd08217	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	134	cd05044	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	129	cd05087	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	120	cd05041	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	127	cd05042	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	118	cd05085	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	124	cd05086	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	167	cd08215	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	118	cd05084	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	128	cd05040	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	333	cd00192	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	136	cd05047	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	126	cd05060	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	141	cd07841	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	167	cd06608	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	166	cd05043	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	130	cd08530	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	161	cd05101	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	133	cd05110	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	134	cd06917	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	174	cd05053	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	133	cd05108	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	158	cd05100	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	158	cd05099	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	124	cd08219	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	132	cd06628	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	126	cd08223	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	126	cd05605	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	126	cd06626	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	130	cd05065	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	126	cd05059	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	636	smart00221	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	280	pfam07714	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	421	smart00219	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	215	pfam00069	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	164	cd07829	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	151	cd05075	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	137	cd05074	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	147	cd05035	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	186	cd05057	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	252	cd05054	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	204	cd05103	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	202	cd05102	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	125	cd06642	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	125	cd06640	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	126	cd08221	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	130	cd08229	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	130	cd08228	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	131	cd08224	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	133	cd07852	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	131	cd06627	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	205	cd06606	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	133	cd07857	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	158	cd05122	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	151	cd05045	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	143	cd06632	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	159	cd06639	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	133	cd05111	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	132	cd05081	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	119	cd05115	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	139	cd06634	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	176	cd06614	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	173	cd07840	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	139	cd06622	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	210	cd05046	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	151	cd05049	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	180	cd05096	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	165	cd05095	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	155	cd05097	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	185	cd05051	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	157	cd05050	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	146	cd05092	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	147	cd05094	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	144	cd05093	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	148	cd05090	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	151	cd05048	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	148	cd05091	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	132	cd05063	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	131	cd05064	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	266	cd05107	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	264	cd05105	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	263	cd05055	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	248	cd05104	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	176	cd07830	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	120	cd05579	4557695,NP_000213
3815	125472	Disease	p.Arg791Gly	VAR_004107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004107	- Piebaldism [MIM:172800]	SWISS	147	cd06609	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	135	cd06625	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	139	cd06644	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	172	cd07834	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	177	cd06623	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	130	cd07846	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	135	cd08529	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	135	cd06620	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	130	cd05578	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	431	smart00220	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	146	cd06659	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	147	cd06605	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	245	cd05581	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	151	cd07833	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	134	cd06617	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	645	cd05123	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	370	cd00180	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	147	cd05036	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	148	cd05062	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	193	cd05032	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	148	cd05089	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	131	cd05071	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	165	cd05056	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	149	cd05061	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	134	cd05148	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	134	cd05068	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	131	cd05070	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	129	cd05083	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	132	cd05073	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	131	cd05082	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	131	cd05069	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	132	cd05072	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	132	cd05034	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	131	cd05067	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	135	cd05039	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	133	cd05052	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	124	cd05116	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	148	cd06618	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	139	cd06621	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	160	cd07866	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	145	cd06654	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	132	cd06613	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	251	cd05106	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	129	cd05114	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	130	cd05113	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	136	cd05080	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	138	cd05109	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	153	cd05088	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	167	cd05033	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	138	cd05079	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	157	cd05038	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	135	cd05066	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	141	cd06610	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	131	cd05078	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	134	cd05077	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	145	cd06648	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	130	cd08225	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	58	smart00750	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	139	cd06629	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	133	cd06631	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	148	cd05037	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	132	cd06630	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	150	cd07845	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	134	cd06611	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	132	cd06643	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	134	cd05058	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	144	cd06616	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	138	cd05118	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	126	cd05608	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	144	cd06612	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	129	cd05112	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	159	cd06652	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	135	cd07847	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	147	cd07864	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	169	cd05098	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	147	cd07837	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	161	cd08217	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	139	cd05044	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	134	cd05087	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	125	cd05041	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	132	cd05042	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	123	cd05085	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	129	cd05086	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	172	cd08215	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	123	cd05084	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	133	cd05040	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	338	cd00192	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	141	cd05047	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	131	cd05060	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	146	cd07841	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	172	cd06608	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	171	cd05043	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	135	cd08530	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	166	cd05101	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	138	cd05110	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	139	cd06917	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	179	cd05053	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	138	cd05108	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	163	cd05100	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	163	cd05099	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	129	cd08219	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	137	cd06628	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	131	cd08223	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	131	cd05605	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	131	cd06626	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	135	cd05065	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	131	cd05059	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	641	smart00221	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	285	pfam07714	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	426	smart00219	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	220	pfam00069	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	169	cd07829	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	156	cd05075	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	142	cd05074	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	152	cd05035	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	191	cd05057	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	257	cd05054	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	209	cd05103	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	207	cd05102	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	130	cd06642	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	130	cd06640	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	131	cd08221	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	135	cd08229	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	135	cd08228	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	136	cd08224	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	138	cd07852	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	136	cd06627	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	210	cd06606	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	138	cd07857	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	163	cd05122	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	156	cd05045	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	148	cd06632	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	164	cd06639	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	138	cd05111	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	137	cd05081	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	124	cd05115	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	144	cd06634	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	181	cd06614	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	178	cd07840	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	144	cd06622	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	215	cd05046	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	156	cd05049	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	185	cd05096	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	170	cd05095	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	160	cd05097	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	190	cd05051	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	162	cd05050	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	151	cd05092	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	152	cd05094	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	149	cd05093	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	153	cd05090	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	156	cd05048	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	153	cd05091	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	137	cd05063	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	136	cd05064	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	271	cd05107	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	269	cd05105	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	268	cd05055	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	253	cd05104	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	181	cd07830	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	125	cd05579	4557695,NP_000213
3815	125472	Disease	p.Arg796Gly	VAR_033132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033132	- Piebaldism [MIM:172800]	SWISS	152	cd06609	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	151	cd06625	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	155	cd06644	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	191	cd07834	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	194	cd06623	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	146	cd07846	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	151	cd08529	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	151	cd06620	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	146	cd05578	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	530	smart00220	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	162	cd06659	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	164	cd06605	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	261	cd05581	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	172	cd07833	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	150	cd06617	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	661	cd05123	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	445	cd00180	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	166	cd05036	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	164	cd05062	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	209	cd05032	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	164	cd05089	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	147	cd05071	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	181	cd05056	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	165	cd05061	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	150	cd05148	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	150	cd05068	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	147	cd05070	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	145	cd05083	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	148	cd05073	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	147	cd05082	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	147	cd05069	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	148	cd05072	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	152	cd05034	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	147	cd05067	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	151	cd05039	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	149	cd05052	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	140	cd05116	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	164	cd06618	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	155	cd06621	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	176	cd07866	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	161	cd06654	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	148	cd06613	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	267	cd05106	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	145	cd05114	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	146	cd05113	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	152	cd05080	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	154	cd05109	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	169	cd05088	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	183	cd05033	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	154	cd05079	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	177	cd05038	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	151	cd05066	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	157	cd06610	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	155	cd05078	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	157	cd05077	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	161	cd06648	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	147	cd08225	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	75	smart00750	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	155	cd06629	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	149	cd06631	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	172	cd05037	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	149	cd06630	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	166	cd07845	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	150	cd06611	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	148	cd06643	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	150	cd05058	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	160	cd06616	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	154	cd05118	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	142	cd05608	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	160	cd06612	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	145	cd05112	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	175	cd06652	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	151	cd07847	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	163	cd07864	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	185	cd05098	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	164	cd07837	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	216	cd08217	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	162	cd05044	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	150	cd05087	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	141	cd05041	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	148	cd05042	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	139	cd05085	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	145	cd05086	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	205	cd08215	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	139	cd05084	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	153	cd05040	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	365	cd00192	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	157	cd05047	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	147	cd05060	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	162	cd07841	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	188	cd06608	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	190	cd05043	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	154	cd08530	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	182	cd05101	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	154	cd05110	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	156	cd06917	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	195	cd05053	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	154	cd05108	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	179	cd05100	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	179	cd05099	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	145	cd08219	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	153	cd06628	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	147	cd08223	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	147	cd05605	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	148	cd06626	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	151	cd05065	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	147	cd05059	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	769	smart00221	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	320	pfam07714	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	458	smart00219	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	256	pfam00069	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	195	cd07829	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	172	cd05075	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	158	cd05074	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	168	cd05035	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	207	cd05057	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	273	cd05054	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	225	cd05103	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	223	cd05102	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	146	cd06642	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	146	cd06640	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	147	cd08221	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	151	cd08229	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	151	cd08228	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	152	cd08224	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	154	cd07852	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	155	cd06627	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	235	cd06606	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	154	cd07857	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	180	cd05122	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	172	cd05045	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	164	cd06632	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	180	cd06639	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	154	cd05111	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	153	cd05081	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	140	cd05115	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	160	cd06634	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	197	cd06614	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	195	cd07840	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	161	cd06622	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	231	cd05046	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	177	cd05049	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	212	cd05096	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	186	cd05095	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	176	cd05097	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	210	cd05051	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	178	cd05050	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	167	cd05092	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	168	cd05094	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	165	cd05093	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	169	cd05090	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	172	cd05048	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	169	cd05091	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	153	cd05063	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	152	cd05064	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	287	cd05107	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	285	cd05105	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	284	cd05055	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	269	cd05104	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	221	cd07830	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	141	cd05579	4557695,NP_000213
3815	125472	Disease	p.Gly812Val	VAR_004108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004108	- Piebaldism [MIM:172800]	SWISS	169	cd06609	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	188	cd06625	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	193	cd06644	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	267	cd07834	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	237	cd06623	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	181	cd07846	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	184	cd08529	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	184	cd06620	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	189	cd05578	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	760	smart00220	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	195	cd06659	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	202	cd06605	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	429	cd05581	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	238	cd07833	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	186	cd06617	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	790	cd05123	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	663	cd00180	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	202	cd05036	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	199	cd05062	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	244	cd05032	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	196	cd05089	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	181	cd05071	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	217	cd05056	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	200	cd05061	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	184	cd05148	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	187	cd05068	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	181	cd05070	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	175	cd05083	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	182	cd05073	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	177	cd05082	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	181	cd05069	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	182	cd05072	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	192	cd05034	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	181	cd05067	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	184	cd05039	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	183	cd05052	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	176	cd05116	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	201	cd06618	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	187	cd06621	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	228	cd07866	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	194	cd06654	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	187	cd06613	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	302	cd05106	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	179	cd05114	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	180	cd05113	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	188	cd05080	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	189	cd05109	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	201	cd05088	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	223	cd05033	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	190	cd05079	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	216	cd05038	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	187	cd05066	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	202	cd06610	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	185	cd05078	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	187	cd05077	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	194	cd06648	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	180	cd08225	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	125	smart00750	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	194	cd06629	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	188	cd06631	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	209	cd05037	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	187	cd06630	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	202	cd07845	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	188	cd06611	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	186	cd06643	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	187	cd05058	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	196	cd06616	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	191	cd05118	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	175	cd05608	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	198	cd06612	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	179	cd05112	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	211	cd06652	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	186	cd07847	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	199	cd07864	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	220	cd05098	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	198	cd07837	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	251	cd08217	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	197	cd05044	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	192	cd05087	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	176	cd05041	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	191	cd05042	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	173	cd05085	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	183	cd05086	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	247	cd08215	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	174	cd05084	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	191	cd05040	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	416	cd00192	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	189	cd05047	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	183	cd05060	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	216	cd07841	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	231	cd06608	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	225	cd05043	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	186	cd08530	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	217	cd05101	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	189	cd05110	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	192	cd06917	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	230	cd05053	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	189	cd05108	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	214	cd05100	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	214	cd05099	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	178	cd08219	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	194	cd06628	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	180	cd08223	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	179	cd05605	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	225	cd06626	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	189	cd05065	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	181	cd05059	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	937	smart00221	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	375	pfam07714	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	567	smart00219	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	330	pfam00069	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	233	cd07829	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	207	cd05075	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	193	cd05074	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	203	cd05035	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	243	cd05057	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	309	cd05054	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	260	cd05103	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	258	cd05102	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	179	cd06642	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	179	cd06640	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	182	cd08221	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	184	cd08229	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	184	cd08228	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	185	cd08224	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	207	cd07852	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	223	cd06627	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	324	cd06606	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	196	cd07857	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	223	cd05122	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	207	cd05045	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	204	cd06632	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	218	cd06639	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	189	cd05111	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	189	cd05081	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	176	cd05115	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	192	cd06634	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	232	cd06614	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	278	cd07840	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	203	cd06622	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	265	cd05046	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	212	cd05049	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	247	cd05096	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	221	cd05095	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	211	cd05097	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	250	cd05051	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	213	cd05050	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	202	cd05092	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	210	cd05094	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	200	cd05093	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	204	cd05090	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	207	cd05048	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	204	cd05091	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	189	cd05063	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	187	cd05064	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	322	cd05107	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	320	cd05105	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	319	cd05055	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	304	cd05104	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	271	cd07830	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	722	cd05579	4557695,NP_000213
3815	125472	Disease	p.Thr847Pro	VAR_033137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033137	- Piebaldism [MIM:172800]	SWISS	209	cd06609	4557695,NP_000213
4254	134289	Disease	p.Asn36Ser	VAR_063237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063237	- Familial progressive hyperpigmentation (FPH) [MIM:145250]	SWISS	36	pfam02404	4505175,NP_000890
8462	11387048	Disease	p.Thr220Met	VAR_031523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031523	rs34336420 Maturity-onset diabetes of the young type 7 (MODY7) [MIM:610508]	SWISS	No Domain	N/A	4507503,NP_003588
8462	11387048	Disease	p.Ala347Ser	VAR_031524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031524	- Maturity-onset diabetes of the young type 7 (MODY7) [MIM:610508]	SWISS	No Domain	N/A	4507503,NP_003588
55975	116242609	Disease	p.Ser150Asn	VAR_060672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060672	- Retinitis pigmentosa type 42 (RP42) [MIM:612943]	SWISS	5	pfam07707	170784846,NP_001026880
55975	116242609	Disease	p.Ser150Asn	VAR_060672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060672	- Retinitis pigmentosa type 42 (RP42) [MIM:612943]	SWISS	5	smart00875	170784846,NP_001026880
55975	116242609	Disease	p.Ala153Thr	VAR_060673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060673	- Retinitis pigmentosa type 42 (RP42) [MIM:612943]	SWISS	8	pfam07707	170784846,NP_001026880
55975	116242609	Disease	p.Ala153Thr	VAR_060673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060673	- Retinitis pigmentosa type 42 (RP42) [MIM:612943]	SWISS	9	smart00875	170784846,NP_001026880
55975	116242609	Disease	p.Ala153Val	VAR_060674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060674	- Retinitis pigmentosa type 42 (RP42) [MIM:612943]	SWISS	8	pfam07707	170784846,NP_001026880
55975	116242609	Disease	p.Ala153Val	VAR_060674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060674	- Retinitis pigmentosa type 42 (RP42) [MIM:612943]	SWISS	9	smart00875	170784846,NP_001026880
3818	125184	Disease	p.Gly123Arg	VAR_054907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054907	- Prekallikrein deficiency (PKK deficiency) [MIM:612423]	SWISS	19	pfam00024	NULL
3818	125184	Disease	p.Gly123Arg	VAR_054907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054907	- Prekallikrein deficiency (PKK deficiency) [MIM:612423]	SWISS	14	smart00223	NULL
3818	125184	Disease	p.Gly123Arg	VAR_054907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054907	- Prekallikrein deficiency (PKK deficiency) [MIM:612423]	SWISS	17	cd01100	NULL
3818	125184	Disease	p.Asn143Ser	VAR_013598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013598	rs3733402 Prekallikrein deficiency (PKK deficiency) [MIM:612423]	SWISS	51	pfam00024	NULL
3818	125184	Disease	p.Asn143Ser	VAR_013598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013598	rs3733402 Prekallikrein deficiency (PKK deficiency) [MIM:612423]	SWISS	34	smart00223	NULL
3818	125184	Disease	p.Asn143Ser	VAR_013598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013598	rs3733402 Prekallikrein deficiency (PKK deficiency) [MIM:612423]	SWISS	42	cd01100	NULL
3818	125184	Disease	p.Cys548Tyr	VAR_054908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054908	- Prekallikrein deficiency (PKK deficiency) [MIM:612423]	SWISS	231	pfam00089	NULL
3818	125184	Disease	p.Cys548Tyr	VAR_054908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054908	- Prekallikrein deficiency (PKK deficiency) [MIM:612423]	SWISS	273	cd00190	NULL
3818	125184	Disease	p.Cys548Tyr	VAR_054908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054908	- Prekallikrein deficiency (PKK deficiency) [MIM:612423]	SWISS	411	smart00020	NULL
3818	125184	Disease	p.Cys548Tyr	VAR_054908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054908	- Prekallikrein deficiency (PKK deficiency) [MIM:612423]	SWISS	223	COG5640	NULL
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	9	smart00174	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	7	cd00882	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	7	cd00880	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04142	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04132	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04109	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04143	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04125	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd00154	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04108	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	13	cd04115	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04119	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04135	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04148	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	17	cd04110	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04124	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd01863	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04106	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04103	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04130	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04113	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	16	cd04116	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04117	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd01861	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	14	cd01864	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	smart00173	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	13	cd04122	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	smart00175	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	13	cd01869	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04139	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	13	cd04111	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04107	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd00157	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04118	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04120	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04112	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd01862	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04123	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04101	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	14	cd01868	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd00877	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	15	cd01866	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	18	cd04114	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	14	cd01875	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	37	COG1100	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	16	smart00010	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	12	cd04177	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	12	cd04137	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	12	cd04175	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	12	cd04131	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	12	cd04129	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	12	cd04133	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	12	cd01874	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	12	cd01865	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	12	cd01871	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	12	cd01870	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	12	cd04176	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	12	cd04136	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	12	cd01860	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	12	cd04140	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	12	cd04138	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	6	smart00176	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	13	cd01873	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	13	cd04141	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	14	cd01867	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	13	cd04145	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	10	cd04144	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	10	cd04147	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	10	pfam00071	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	10	cd04146	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd04134	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	15	cd04127	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	10	cd00876	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	11	cd01893	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	10	pfam08477	15718763,NP_203524
3845	131875	Disease	p.Val14Ile	VAR_026109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026109	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	10	cd00878	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	29	smart00174	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd00882	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd00880	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd04142	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd04132	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd04109	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd04143	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	55	cd04125	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	128	cd00154	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd04108	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd04115	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd04119	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd04135	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	cd04148	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	37	cd04110	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd04124	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd01863	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd04106	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd04103	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd04130	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd04113	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd04116	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd04117	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd01861	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd01864	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	smart00173	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd04122	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	smart00175	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd01869	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	54	cd04139	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	37	cd04111	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd04107	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	37	cd00157	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd04118	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd04120	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	118	cd04112	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd01862	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd04123	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd04101	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd01868	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd00877	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd01866	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	38	cd04114	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd01875	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	109	COG1100	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	smart00010	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd04177	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd04137	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd04175	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd04131	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd04129	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd04133	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd01874	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd01865	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd01871	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd01870	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd04176	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd04136	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	36	cd01860	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd04140	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd04138	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	26	smart00176	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	50	cd01873	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd04141	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd01867	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	33	cd04145	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	30	cd04144	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	30	cd04147	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	30	pfam00071	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	30	cd04146	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	31	cd04134	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	35	cd04127	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	32	cd00876	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	34	cd01893	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	40	pfam08477	15718763,NP_203524
3845	131875	Disease	p.Pro34Arg	VAR_026110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026110	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	37	cd00878	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	84	smart00174	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	304	cd00882	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	122	cd00880	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	56	cd04142	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	58	cd04132	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	58	cd04109	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	57	cd04143	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	81	cd04125	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	191	cd00154	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	56	cd04108	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	58	cd04115	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	86	cd04119	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	55	cd04135	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	82	cd04148	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	62	cd04110	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	57	cd04124	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	66	cd01863	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	58	cd04106	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	54	cd04103	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	55	cd04130	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	60	cd04113	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	61	cd04116	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	56	cd04117	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	59	cd01861	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	106	cd01864	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	56	smart00173	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	58	cd04122	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	77	smart00175	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	59	cd01869	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	78	cd04139	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	63	cd04111	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	114	cd04107	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	127	cd00157	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	57	cd04118	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	56	cd04120	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	143	cd04112	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	57	cd01862	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	66	cd04123	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	60	cd04101	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	63	cd01868	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	62	cd00877	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	60	cd01866	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	63	cd04114	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	58	cd01875	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	170	COG1100	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	99	smart00010	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	56	cd04177	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	62	cd04137	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	56	cd04175	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	56	cd04131	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	56	cd04129	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	58	cd04133	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	56	cd01874	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	57	cd01865	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	56	cd01871	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	56	cd01870	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	56	cd04176	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	56	cd04136	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	101	cd01860	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	57	cd04140	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	56	cd04138	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	51	smart00176	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	74	cd01873	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	57	cd04141	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	59	cd01867	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	57	cd04145	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	54	cd04144	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	55	cd04147	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	70	pfam00071	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	100	cd04146	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	56	cd04134	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	70	cd04127	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	58	cd00876	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	58	cd01893	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	79	pfam08477	15718763,NP_203524
3845	131875	Disease	p.Thr58Ile	VAR_026111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026111	- Noonan syndrome type 3 (NS3) [MIM:609942]	SWISS	119	cd00878	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	86	smart00174	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	306	cd00882	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	124	cd00880	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd04142	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd04132	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd04109	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd04143	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	83	cd04125	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	193	cd00154	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd04108	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd04115	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	88	cd04119	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd04135	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	84	cd04148	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd04110	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd04124	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd01863	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd04106	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd04103	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd04130	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd04113	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	63	cd04116	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd04117	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	61	cd01861	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	108	cd01864	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	smart00173	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd04122	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	79	smart00175	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	61	cd01869	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	80	cd04139	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd04111	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	116	cd04107	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	129	cd00157	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd04118	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd04120	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	145	cd04112	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd01862	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd04123	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd04101	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd01868	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd00877	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd01866	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd04114	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd01875	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	172	COG1100	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	101	smart00010	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd04177	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd04137	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd04175	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd04131	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd04129	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd04133	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd01874	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd01865	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd01871	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd01870	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd04176	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd04136	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	103	cd01860	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd04140	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd04138	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	53	smart00176	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd01873	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd04141	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	61	cd01867	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd04145	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	56	cd04144	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	57	cd04147	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	72	pfam00071	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	102	cd04146	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	58	cd04134	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	72	cd04127	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd00876	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd01893	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	81	pfam08477	15718763,NP_203524
3845	131875	Disease	p.Gly60Arg	VAR_026112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026112	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	121	cd00878	15718763,NP_203524
889	77432385	Disease	p.Phe97Ser	VAR_023573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023573	- Cerebral cavernous malformations type 1 (CCM1) [MIM:116860]	SWISS	No Domain	N/A	37221182,NP_919437|37221187,NP_919436|31581522,NP_004903|37221184,NP_919438
889	77432385	Disease	p.Lys569Glu	VAR_023574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023574	- Cerebral cavernous malformations type 1 (CCM1) [MIM:116860]	SWISS	65	pfam00373	37221182,NP_919437|37221187,NP_919436|31581522,NP_004903|37221184,NP_919438
889	77432385	Disease	p.Lys569Glu	VAR_023574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023574	- Cerebral cavernous malformations type 1 (CCM1) [MIM:116860]	SWISS	521	smart00295	37221182,NP_919437|37221187,NP_919436|31581522,NP_004903|37221184,NP_919438
3848	238054406	Disease	p.Lys74Ile	VAR_017819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017819	rs57977969 Palmoplantar keratoderma non-epidermolytic (NEPPK) [MIM:600962]	SWISS	No Domain	N/A	119395750,NP_006112
3848	238054406	Disease	p.Val155Asp	VAR_017820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017820	- Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	No Domain	N/A	119395750,NP_006112
3848	238054406	Disease	p.Val155Gly	VAR_003853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003853	rs57959072 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	No Domain	N/A	119395750,NP_006112
3848	238054406	Disease	p.Leu161Pro	VAR_003854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003854	rs57695159 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	No Domain	N/A	119395750,NP_006112
3848	238054406	Disease	p.Ser186Pro	VAR_003855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003855	rs60022878 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	8	pfam00038	119395750,NP_006112
3848	238054406	Disease	p.Asn188Lys	VAR_017821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017821	rs59429455 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	10	pfam00038	119395750,NP_006112
3848	238054406	Disease	p.Asn188Ser	VAR_003856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003856	rs58928370 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	10	pfam00038	119395750,NP_006112
3848	238054406	Disease	p.Asn188Thr	VAR_017822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017822	- Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	10	pfam00038	119395750,NP_006112
3848	238054406	Disease	p.Ser193Pro	VAR_003857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003857	rs60937700 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	15	pfam00038	119395750,NP_006112
3848	238054406	Disease	p.Leu214Pro	VAR_017823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017823	rs61549035 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	36	pfam00038	119395750,NP_006112
3848	238054406	Disease	p.Asp340Val	VAR_017824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017824	rs58062863 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	219	pfam00038	119395750,NP_006112
3848	238054406	Disease	p.Ile479Phe	VAR_017825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017825	rs61218439 Ichthyosis annular epidermolytic (AEI) [MIM:607602]	SWISS	370	pfam00038	119395750,NP_006112
3848	238054406	Disease	p.Ile479Thr	VAR_017826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017826	rs57837128 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	370	pfam00038	119395750,NP_006112
3848	238054406	Disease	p.Ile479Thr	VAR_017826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017826	rs57837128 Ichthyosis annular epidermolytic (AEI) [MIM:607602]	SWISS	370	pfam00038	119395750,NP_006112
3848	238054406	Disease	p.Tyr482Cys	VAR_017827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017827	rs58420087 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	373	pfam00038	119395750,NP_006112
3848	238054406	Disease	p.Leu486Pro	VAR_017828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017828	rs56914602 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	377	pfam00038	119395750,NP_006112
3848	238054406	Disease	p.Glu490Gln	VAR_003861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003861	rs60279707 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	382	pfam00038	119395750,NP_006112
3858	269849769	Disease	p.Met150Arg	VAR_010506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010506	rs58901407 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	No Domain	N/A	NULL
3858	269849769	Disease	p.Asn154His	VAR_003826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003826	rs57784225 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	No Domain	N/A	NULL
3858	269849769	Disease	p.Arg156Cys	VAR_003828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003828	- Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	No Domain	N/A	NULL
3858	269849769	Disease	p.Arg156His	VAR_003827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003827	rs58075662 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	No Domain	N/A	NULL
3858	269849769	Disease	p.Arg156Pro	VAR_003829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003829	- Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	No Domain	N/A	NULL
3858	269849769	Disease	p.Arg156Ser	VAR_003830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003830	rs58852768 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	No Domain	N/A	NULL
3858	269849769	Disease	p.Tyr160Asp	VAR_003831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003831	rs58414354 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	No Domain	N/A	NULL
3858	269849769	Disease	p.Tyr160Asn	VAR_010508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010508	- Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	No Domain	N/A	NULL
3858	269849769	Disease	p.Tyr160Ser	VAR_010509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010509	rs58735429 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	No Domain	N/A	NULL
3858	269849769	Disease	p.Leu161Ser	VAR_003832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003832	rs60118264 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	No Domain	N/A	NULL
3858	269849769	Disease	p.Arg422Glu	VAR_033145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033145	rs59075499 Ichthyosis annular epidermolytic (AEI) [MIM:607602]	SWISS	No Domain	N/A	NULL
3858	269849769	Disease	p.Lys439Glu	VAR_010510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010510	rs61434181 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	No Domain	N/A	NULL
3858	269849769	Disease	p.Leu442Gln	VAR_003833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003833	rs58026994 Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]	SWISS	No Domain	N/A	NULL
3858	269849769	Disease	p.Ile446Thr	VAR_010511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010511	- Ichthyosis annular epidermolytic (AEI) [MIM:607602]	SWISS	No Domain	N/A	NULL
3859	2497269	Disease	p.Met129Thr	VAR_013126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013126	rs28936695 Meesmann corneal dystrophy (MECD) [MIM:122100]	SWISS	6	pfam00038	4557699,NP_000214
3859	2497269	Disease	p.Gln130Pro	VAR_013127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013127	rs58864803 Meesmann corneal dystrophy (MECD) [MIM:122100]	SWISS	7	pfam00038	4557699,NP_000214
3859	2497269	Disease	p.Arg135Gly	VAR_008526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008526	rs58410481 Meesmann corneal dystrophy (MECD) [MIM:122100]	SWISS	12	pfam00038	4557699,NP_000214
3859	2497269	Disease	p.Arg135Ile	VAR_008525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008525	- Meesmann corneal dystrophy (MECD) [MIM:122100]	SWISS	12	pfam00038	4557699,NP_000214
3859	2497269	Disease	p.Arg135Ser	VAR_031394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031394	rs61282718 Meesmann corneal dystrophy (MECD) [MIM:122100]	SWISS	12	pfam00038	4557699,NP_000214
3859	2497269	Disease	p.Arg135Thr	VAR_003834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003834	rs57218384 Meesmann corneal dystrophy (MECD) [MIM:122100]	SWISS	12	pfam00038	4557699,NP_000214
3859	2497269	Disease	p.Ala137Pro	VAR_031395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031395	rs58038639 Meesmann corneal dystrophy (MECD) [MIM:122100]	SWISS	14	pfam00038	4557699,NP_000214
3859	2497269	Disease	p.Leu140Arg	VAR_008527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008527	rs58918655 Meesmann corneal dystrophy (MECD) [MIM:122100]	SWISS	17	pfam00038	4557699,NP_000214
3859	2497269	Disease	p.Val143Leu	VAR_003835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003835	rs58343600 Meesmann corneal dystrophy (MECD) [MIM:122100]	SWISS	20	pfam00038	4557699,NP_000214
3859	2497269	Disease	p.Ile426Ser	VAR_031397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031397	rs59350319 Meesmann corneal dystrophy (MECD) [MIM:122100]	SWISS	370	pfam00038	4557699,NP_000214
3859	2497269	Disease	p.Tyr429Cys	VAR_031398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031398	rs59202432 Meesmann corneal dystrophy (MECD) [MIM:122100]	SWISS	373	pfam00038	4557699,NP_000214
3859	2497269	Disease	p.Tyr429Asp	VAR_008528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008528	rs58162394 Meesmann corneal dystrophy (MECD) [MIM:122100]	SWISS	373	pfam00038	4557699,NP_000214
3860	269849755	Disease	p.Met108Thr	VAR_016035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016035	- White sponge nevus of cannon (WSN) [MIM:193900]	SWISS	6	pfam00038	NULL
3860	269849755	Disease	p.Leu111Pro	VAR_023924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023924	- White sponge nevus of cannon (WSN) [MIM:193900]	SWISS	9	pfam00038	NULL
3860	269849755	Disease	p.Asn112Ser	VAR_016036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016036	- White sponge nevus of cannon (WSN) [MIM:193900]	SWISS	10	pfam00038	NULL
3860	269849755	Disease	p.Leu115Pro	VAR_016037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016037	- White sponge nevus of cannon (WSN) [MIM:193900]	SWISS	13	pfam00038	NULL
3860	269849755	Disease	p.Leu119Pro	VAR_003836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003836	- White sponge nevus of cannon (WSN) [MIM:193900]	SWISS	17	pfam00038	NULL
3861	229463044	Disease	p.Lys116Asn	VAR_010438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010438	rs59271739 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	3	pfam00038	NULL
3861	229463044	Disease	p.Met119Thr	VAR_010440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010440	rs28928893 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	6	pfam00038	NULL
3861	229463044	Disease	p.Met119Val	VAR_023719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023719	rs61263401 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	6	pfam00038	NULL
3861	229463044	Disease	p.Met119Val	VAR_023719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023719	rs61263401 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	6	pfam00038	NULL
3861	229463044	Disease	p.Gln120Arg	VAR_010441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010441	rs60993843 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	7	pfam00038	NULL
3861	229463044	Disease	p.Leu122Phe	VAR_010442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010442	rs59110575 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	9	pfam00038	NULL
3861	229463044	Disease	p.Leu122Phe	VAR_010442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010442	rs59110575 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	9	pfam00038	NULL
3861	229463044	Disease	p.Asn123Lys	VAR_023720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023720	- Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	10	pfam00038	NULL
3861	229463044	Disease	p.Asn123Ser	VAR_010443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010443	rs60171927 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	10	pfam00038	NULL
3861	229463044	Disease	p.Arg125Cys	VAR_003837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003837	rs60399023 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	12	pfam00038	NULL
3861	229463044	Disease	p.Arg125Gly	VAR_023721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023721	- Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	12	pfam00038	NULL
3861	229463044	Disease	p.Arg125His	VAR_003838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003838	rs58330629 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	12	pfam00038	NULL
3861	229463044	Disease	p.Arg125Ser	VAR_010444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010444	- Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	12	pfam00038	NULL
3861	229463044	Disease	p.Tyr129Asp	VAR_010445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010445	rs60470268 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	16	pfam00038	NULL
3861	229463044	Disease	p.Leu130Pro	VAR_023722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023722	rs57522245 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	17	pfam00038	NULL
3861	229463044	Disease	p.Val133Leu	VAR_023723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023723	rs61027685 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	20	pfam00038	NULL
3861	229463044	Disease	p.Val133Leu	VAR_023723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023723	rs61027685 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	20	pfam00038	NULL
3861	229463044	Disease	p.Arg134Pro	VAR_031635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031635	rs61540016 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	21	pfam00038	NULL
3861	229463044	Disease	p.Leu143Pro	VAR_010446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010446	rs61326242 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	30	pfam00038	NULL
3861	229463044	Disease	p.Glu144Ala	VAR_003839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003839	rs57121345 Epidermolysis bullosa simplex autosomal recessive (AREBS) [MIM:601001]	SWISS	31	pfam00038	NULL
3861	229463044	Disease	p.Arg148Cys	VAR_031636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031636	rs58378809 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	35	pfam00038	NULL
3861	229463044	Disease	p.Arg211Pro	VAR_027718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027718	rs60589227 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	133	pfam00038	NULL
3861	229463044	Disease	p.Ala247Asp	VAR_010447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010447	- Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	183	pfam00038	NULL
3861	229463044	Disease	p.Val270Met	VAR_003840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003840	rs58560979 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	216	pfam00038	NULL
3861	229463044	Disease	p.Met272Arg	VAR_003841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003841	rs61371557 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	218	pfam00038	NULL
3861	229463044	Disease	p.Met272Thr	VAR_027719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027719	- Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	218	pfam00038	NULL
3861	229463044	Disease	p.Asp273Gly	VAR_010448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010448	rs59375065 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	219	pfam00038	NULL
3861	229463044	Disease	p.Ala274Asp	VAR_010449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010449	rs58785777 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	220	pfam00038	NULL
3861	229463044	Disease	p.Ile377Asn	VAR_010450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010450	rs61536893 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	335	pfam00038	NULL
3861	229463044	Disease	p.Leu384Pro	VAR_003843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003843	rs59629244 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	342	pfam00038	NULL
3861	229463044	Disease	p.Arg388Cys	VAR_010451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010451	rs59966597 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	346	pfam00038	NULL
3861	229463044	Disease	p.Arg388His	VAR_031637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031637	rs58645163 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	346	pfam00038	NULL
3861	229463044	Disease	p.Leu408Met	VAR_023724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023724	rs57200223 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	366	pfam00038	NULL
3861	229463044	Disease	p.Ala413Thr	VAR_023725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023725	rs59780231 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	371	pfam00038	NULL
3861	229463044	Disease	p.Tyr415Cys	VAR_031638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031638	- Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	373	pfam00038	NULL
3861	229463044	Disease	p.Tyr415His	VAR_003844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003844	- Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	373	pfam00038	NULL
3861	229463044	Disease	p.Arg416Pro	VAR_031639	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031639	- Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	374	pfam00038	NULL
3861	229463044	Disease	p.Arg417Pro	VAR_027721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027721	- Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	375	pfam00038	NULL
3861	229463044	Disease	p.Leu419Gln	VAR_003845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003845	- Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	377	pfam00038	NULL
3861	229463044	Disease	p.Glu422Lys	VAR_010452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010452	- Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	381	pfam00038	NULL
3868	23503075	Disease	p.Met121Thr	VAR_017065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017065	rs28928894 Pachyonychia congenita type 1 (PC1) [MIM:167200]	SWISS	6	pfam00038	24430192,NP_005548
3868	23503075	Disease	p.Gln122Pro	VAR_012855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012855	rs59349773 Pachyonychia congenita type 1 (PC1) [MIM:167200]	SWISS	7	pfam00038	24430192,NP_005548
3868	23503075	Disease	p.Leu124Arg	VAR_013837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013837	rs58293603 Pachyonychia congenita type 1 (PC1) [MIM:167200]	SWISS	9	pfam00038	24430192,NP_005548
3868	23503075	Disease	p.Asn125Ser	VAR_009183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009183	rs60723330 Palmoplantar keratoderma non-epidermolytic focal (FNEPPK) [MIM:613000]	SWISS	10	pfam00038	24430192,NP_005548
3868	23503075	Disease	p.Arg127Cys	VAR_009184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009184	rs59856285 Palmoplantar keratoderma non-epidermolytic focal (FNEPPK) [MIM:613000]	SWISS	12	pfam00038	24430192,NP_005548
3868	23503075	Disease	p.Arg127Pro	VAR_012856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012856	rs57424749 Pachyonychia congenita type 1 (PC1) [MIM:167200]	SWISS	12	pfam00038	24430192,NP_005548
3868	23503075	Disease	p.Leu128Gln	VAR_017066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017066	rs28928895 Pachyonychia congenita type 1 (PC1) [MIM:167200]	SWISS	13	pfam00038	24430192,NP_005548
3868	23503075	Disease	p.Leu132Pro	VAR_003846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003846	rs60944949 Pachyonychia congenita type 1 (PC1) [MIM:167200]	SWISS	17	pfam00038	24430192,NP_005548
3868	23503075	Disease	p.Lys354Asn	VAR_017067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017067	rs59328451 Pachyonychia congenita type 1 (PC1) [MIM:167200]	SWISS	310	pfam00038	24430192,NP_005548
3872	547751	Disease	p.Met88Thr	VAR_010512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010512	- Pachyonychia congenita type 2 (PC2) [MIM:167210]	SWISS	6	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Met88Thr	VAR_010512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010512	- Steatocystoma multiplex (SM) [MIM:184500]	SWISS	6	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Asn92Asp	VAR_003847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003847	- Pachyonychia congenita type 2 (PC2) [MIM:167210]	SWISS	10	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Asn92His	VAR_003848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003848	- Steatocystoma multiplex (SM) [MIM:184500]	SWISS	10	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Asn92Ser	VAR_003849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003849	- Pachyonychia congenita type 2 (PC2) [MIM:167210]	SWISS	10	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Arg94Cys	VAR_010513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010513	- Pachyonychia congenita type 2 (PC2) [MIM:167210]	SWISS	12	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Arg94Cys	VAR_010513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010513	- Steatocystoma multiplex (SM) [MIM:184500]	SWISS	12	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Arg94His	VAR_003850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003850	- Steatocystoma multiplex (SM) [MIM:184500]	SWISS	12	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Arg94Pro	VAR_017068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017068	- Pachyonychia congenita type 2 (PC2) [MIM:167210]	SWISS	12	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Leu95Pro	VAR_017071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017071	- Pachyonychia congenita type 2 (PC2) [MIM:167210]	SWISS	13	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Leu95Gln	VAR_017070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017070	- Pachyonychia congenita type 2 (PC2) [MIM:167210]	SWISS	13	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Tyr98Asp	VAR_003851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003851	- Pachyonychia congenita type 2 (PC2) [MIM:167210]	SWISS	16	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Leu99Pro	VAR_017073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017073	- Pachyonychia congenita type 2 (PC2) [MIM:167210]	SWISS	17	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Val102Met	VAR_017074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017074	- Pachyonychia congenita type 2 (PC2) [MIM:167210]	SWISS	20	pfam00038	4557701,NP_000413
3872	547751	Disease	p.Asn109Asp	VAR_037083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037083	- Pachyonychia congenita type 2 (PC2) [MIM:167210]	SWISS	27	pfam00038	4557701,NP_000413
3875	125083	Disease	p.Thr103Ala	VAR_023054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023054	rs61136606 Cryptogenic cirrhosis [MIM:215600]	SWISS	25	pfam00038	4557888,NP_000215|40354195,NP_954657
3875	125083	Disease	p.His128Leu	VAR_003852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003852	rs57758506 Cryptogenic cirrhosis [MIM:215600]	SWISS	58	pfam00038	4557888,NP_000215|40354195,NP_954657
3875	125083	Disease	p.Arg261Gln	VAR_023056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023056	- Cryptogenic cirrhosis [MIM:215600]	SWISS	247	pfam00038	4557888,NP_000215|40354195,NP_954657
3875	125083	Disease	p.Gly340Arg	VAR_023057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023057	- Cryptogenic cirrhosis [MIM:215600]	SWISS	333	pfam00038	4557888,NP_000215|40354195,NP_954657
3849	239938650	Disease	p.Gln181Pro	VAR_003865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003865	- Ichthyosis bullosa of Siemens (IBS) [MIM:146800]	SWISS	5	pfam00038	47132620,NP_000414
3849	239938650	Disease	p.Ile182Asn	VAR_010514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010514	rs61622714 Ichthyosis bullosa of Siemens (IBS) [MIM:146800]	SWISS	6	pfam00038	47132620,NP_000414
3849	239938650	Disease	p.Asn186Asp	VAR_010515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010515	- Ichthyosis bullosa of Siemens (IBS) [MIM:146800]	SWISS	10	pfam00038	47132620,NP_000414
3849	239938650	Disease	p.Asn186Lys	VAR_017829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017829	rs61726457 Ichthyosis bullosa of Siemens (IBS) [MIM:146800]	SWISS	10	pfam00038	47132620,NP_000414
3849	239938650	Disease	p.Asn186Tyr	VAR_009185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009185	rs61726454 Ichthyosis bullosa of Siemens (IBS) [MIM:146800]	SWISS	10	pfam00038	47132620,NP_000414
3849	239938650	Disease	p.Glu465Asp	VAR_031082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031082	- Ichthyosis bullosa of Siemens (IBS) [MIM:146800]	SWISS	358	pfam00038	47132620,NP_000414
3849	239938650	Disease	p.Glu465Lys	VAR_031083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031083	- Ichthyosis bullosa of Siemens (IBS) [MIM:146800]	SWISS	358	pfam00038	47132620,NP_000414
3849	239938650	Disease	p.Glu476Lys	VAR_009186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009186	rs56829062 Ichthyosis bullosa of Siemens (IBS) [MIM:146800]	SWISS	369	pfam00038	47132620,NP_000414
3849	239938650	Disease	p.Glu476Val	VAR_031084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031084	rs60537449 Ichthyosis bullosa of Siemens (IBS) [MIM:146800]	SWISS	369	pfam00038	47132620,NP_000414
3849	239938650	Disease	p.Ile477Asn	VAR_031085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031085	- Ichthyosis bullosa of Siemens (IBS) [MIM:146800]	SWISS	370	pfam00038	47132620,NP_000414
3849	239938650	Disease	p.Thr479Pro	VAR_009187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009187	rs61726453 Ichthyosis bullosa of Siemens (IBS) [MIM:146800]	SWISS	372	pfam00038	47132620,NP_000414
3849	239938650	Disease	p.Leu484Pro	VAR_010516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010516	rs61726451 Ichthyosis bullosa of Siemens (IBS) [MIM:146800]	SWISS	377	pfam00038	47132620,NP_000414
3849	239938650	Disease	p.Glu487Asp	VAR_003866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003866	rs61726450 Ichthyosis bullosa of Siemens (IBS) [MIM:146800]	SWISS	381	pfam00038	47132620,NP_000414
3849	239938650	Disease	p.Glu487Lys	VAR_003867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003867	rs61726449 Ichthyosis bullosa of Siemens (IBS) [MIM:146800]	SWISS	381	pfam00038	47132620,NP_000414
3849	239938650	Disease	p.Glu488Lys	VAR_031086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031086	rs61726452 Ichthyosis bullosa of Siemens (IBS) [MIM:146800]	SWISS	382	pfam00038	47132620,NP_000414
3850	81175179	Disease	p.Arg503Pro	VAR_031327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031327	rs60410063 Meesmann corneal dystrophy (MECD) [MIM:122100]	SWISS	374	pfam00038	NULL
3850	81175179	Disease	p.Glu509Lys	VAR_003868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003868	rs57872071 Meesmann corneal dystrophy (MECD) [MIM:122100]	SWISS	381	pfam00038	NULL
3851	82654947	Disease	p.Glu449Lys	VAR_016038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016038	- White sponge nevus of cannon (WSN) [MIM:193900]	SWISS	369	pfam00038	NULL
3852	143811411	Disease	p.Pro25Leu	VAR_010453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010453	rs57499817 Epidermolysis bullosa simplex with mottled pigmentation (MP-EBS) [MIM:131960]	SWISS	No Domain	N/A	119395754,NP_000415
3852	143811411	Disease	p.Val143Asp	VAR_031640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031640	rs59851104 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	No Domain	N/A	119395754,NP_000415
3852	143811411	Disease	p.Pro152Leu	VAR_010454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010454	rs60617604 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	No Domain	N/A	119395754,NP_000415
3852	143811411	Disease	p.Asp158Val	VAR_031641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031641	rs61222761 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	No Domain	N/A	119395754,NP_000415
3852	143811411	Disease	p.Ile161Ser	VAR_003872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003872	rs58058996 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	No Domain	N/A	119395754,NP_000415
3852	143811411	Disease	p.Glu167Lys	VAR_026536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026536	rs57378129 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	No Domain	N/A	119395754,NP_000415
3852	143811411	Disease	p.Glu168Lys	VAR_027722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027722	rs58619430 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	2	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Arg169Pro	VAR_027723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027723	rs60720877 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	3	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Glu170Lys	VAR_026537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026537	rs59115483 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	4	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Lys173Asn	VAR_010455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010455	rs58163069 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	7	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Leu175Phe	VAR_010456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010456	rs57890479 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	9	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Asn176Ser	VAR_010457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010457	rs59092197 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	10	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Asn177Ser	VAR_026538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026538	rs61495052 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	11	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Phe179Ser	VAR_010458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010458	rs57781042 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	13	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Ser181Pro	VAR_010459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010459	rs60715293 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	15	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Val186Leu	VAR_013829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013829	rs61305583 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	20	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Val186Met	VAR_031642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031642	- Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	20	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Glu190Lys	VAR_027724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027724	rs58976397 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	24	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Gln191Pro	VAR_031643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031643	rs57751134 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	25	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Asn193Lys	VAR_003873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003873	rs60586163 Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	27	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Asn193Lys	VAR_003873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003873	rs60586163 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	27	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Lys199Thr	VAR_026539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026539	rs58766676 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	33	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Leu311Pro	VAR_026540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026540	- Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	193	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Val323Ala	VAR_010460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010460	rs59840738 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	214	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Val324Asp	VAR_026541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026541	rs59335325 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	215	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Leu325Pro	VAR_010461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010461	rs58107458 Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	216	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Met327Lys	VAR_010462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010462	- Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	218	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Met327Thr	VAR_003874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003874	rs58072617 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	218	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Asp328Glu	VAR_026542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026542	rs59464425 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	219	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Asp328Gly	VAR_026543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026543	- Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	219	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Asp328His	VAR_010463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010463	rs56790237 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	219	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Asp328Val	VAR_010464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010464	rs57142010 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	219	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Asn329Lys	VAR_010465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010465	rs59730172 Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	220	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Arg331Cys	VAR_003875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003875	- Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	223	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Arg331His	VAR_027725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027725	- Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	223	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Arg352Ser	VAR_031644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031644	- Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	248	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Lys404Glu	VAR_023726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023726	- Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	307	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Glu418Lys	VAR_026544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026544	- Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	321	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Ala438Asp	VAR_023727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023727	- Epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]	SWISS	341	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Leu463Pro	VAR_003876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003876	- Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	366	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Ile467Thr	VAR_010466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010466	- Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	370	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Thr469Pro	VAR_027726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027726	- Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	372	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Glu475Gly	VAR_003877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003877	- Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	378	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Glu475Lys	VAR_023728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023728	- Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	378	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Glu477Lys	VAR_010467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010467	- Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]	SWISS	381	pfam00038	119395754,NP_000415
3852	143811411	Disease	p.Gly517Asp	VAR_031645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031645	- Epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]	SWISS	No Domain	N/A	119395754,NP_000415
3853	1346344	Disease	p.Phe174Val	VAR_017075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017075	rs28933087 Pachyonychia congenita type 1 (PC1) [MIM:167200]	SWISS	13	pfam00038	5031839,NP_005545
3853	1346344	Disease	p.Leu469Arg	VAR_017076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017076	rs57052654 Pachyonychia congenita type 1 (PC1) [MIM:167200]	SWISS	377	pfam00038	5031839,NP_005545
3853	1346344	Disease	p.Glu472Lys	VAR_017077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017077	rs60554162 Pachyonychia congenita type 1 (PC1) [MIM:167200]	SWISS	381	pfam00038	5031839,NP_005545
3854	238054404	Disease	p.Glu472Lys	VAR_023062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023062	rs60627726 Pachyonychia congenita type 2 (PC2) [MIM:167210]	SWISS	381	pfam00038	119703753,NP_005546
121391	166218812	Disease	p.Asn148Lys	VAR_063587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063587	- Woolly hair autosomal dominant (ADWH) [MIM:194300]	SWISS	10	pfam00038	148612803,NP_778223
9119	239938651	Disease	p.Glu337Lys	VAR_038104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038104	rs2232398 Loose anagen hair syndrome (LAHS) [MIM:600628]	SWISS	252	pfam00038	153791158,NP_004684
3856	90110027	Disease	p.Gly53Val	VAR_023058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023058	rs61710484 Cryptogenic cirrhosis [MIM:215600]	SWISS	No Domain	N/A	4504919,NP_002264
3856	90110027	Disease	p.Tyr54Cys	VAR_023059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023059	- Cryptogenic cirrhosis [MIM:215600]	SWISS	No Domain	N/A	4504919,NP_002264
3856	90110027	Disease	p.Gly62Cys	VAR_023060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023060	rs11554495 Cryptogenic cirrhosis [MIM:215600]	SWISS	No Domain	N/A	4504919,NP_002264
3887	311033435	Disease	p.Glu402Lys	VAR_018116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018116	- Monilethrix [MIM:158000]	SWISS	369	pfam00038	169790853,NP_002272
3887	311033435	Disease	p.Glu413Lys	VAR_018117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018117	rs57419521 Monilethrix [MIM:158000]	SWISS	381	pfam00038	169790853,NP_002272
3889	218511666	Disease	p.Glu407Lys	VAR_023052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023052	- Monilethrix [MIM:158000]	SWISS	369	pfam00038	169790841,NP_002273
3891	48474780	Disease	p.Arg78His	VAR_029657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029657	rs61630004 Ectodermal dysplasia pure hair-nail type (EDPHN) [MIM:602032]	SWISS	No Domain	N/A	4504935,NP_002274
3892	48474260	Disease	p.Asn114Asp	VAR_018125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018125	- Monilethrix [MIM:158000]	SWISS	10	pfam00038	14318422,NP_002275
3892	48474260	Disease	p.Asn114His	VAR_023053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023053	- Monilethrix [MIM:158000]	SWISS	10	pfam00038	14318422,NP_002275
3892	48474260	Disease	p.Glu402Lys	VAR_018127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018127	- Monilethrix [MIM:158000]	SWISS	369	pfam00038	14318422,NP_002275
3892	48474260	Disease	p.Glu402Gln	VAR_018126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018126	rs28939669 Monilethrix [MIM:158000]	SWISS	369	pfam00038	14318422,NP_002275
3892	48474260	Disease	p.Glu413Asp	VAR_018129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018129	- Monilethrix [MIM:158000]	SWISS	381	pfam00038	14318422,NP_002275
3892	48474260	Disease	p.Glu413Lys	VAR_018128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018128	- Monilethrix [MIM:158000]	SWISS	381	pfam00038	14318422,NP_002275
3857	239938886	Disease	p.Met157Arg	VAR_036805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036805	- EPPK [MIM:149100]	SWISS	6	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Met157Arg	VAR_036805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036805	- Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]	SWISS	6	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Met157Thr	VAR_010499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010499	rs59510579 EPPK [MIM:149100]	SWISS	6	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Met157Thr	VAR_010499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010499	rs59510579 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]	SWISS	6	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Met157Val	VAR_010500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010500	rs58597584 EPPK [MIM:149100]	SWISS	6	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Met157Val	VAR_010500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010500	rs58597584 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]	SWISS	6	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Leu160Phe	VAR_035438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035438	rs28940896 EPPK [MIM:149100]	SWISS	9	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Leu160Phe	VAR_035438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035438	rs28940896 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]	SWISS	9	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Leu160Val	VAR_010501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010501	- EPPK [MIM:149100]	SWISS	9	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Leu160Val	VAR_010501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010501	- Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]	SWISS	9	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Asn161His	VAR_036806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036806	- EPPK [MIM:149100]	SWISS	10	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Asn161His	VAR_036806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036806	- Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]	SWISS	10	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Asn161Ile	VAR_036807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036807	- EPPK [MIM:149100]	SWISS	10	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Asn161Ile	VAR_036807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036807	- Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]	SWISS	10	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Asn161Lys	VAR_003822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003822	rs57536312 EPPK [MIM:149100]	SWISS	10	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Asn161Lys	VAR_003822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003822	rs57536312 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]	SWISS	10	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Asn161Ser	VAR_010502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010502	rs56707768 EPPK [MIM:149100]	SWISS	10	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Asn161Ser	VAR_010502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010502	rs56707768 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]	SWISS	10	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Asn161Tyr	VAR_010503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010503	rs59296273 EPPK [MIM:149100]	SWISS	10	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Asn161Tyr	VAR_010503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010503	rs59296273 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]	SWISS	10	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Arg163Pro	VAR_036808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036808	- EPPK [MIM:149100]	SWISS	12	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Arg163Pro	VAR_036808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036808	- Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]	SWISS	12	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Arg163Gln	VAR_003823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003823	rs57758262 EPPK [MIM:149100]	SWISS	12	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Arg163Gln	VAR_003823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003823	rs57758262 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]	SWISS	12	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Arg163Trp	VAR_003824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003824	rs59616921 EPPK [MIM:149100]	SWISS	12	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Arg163Trp	VAR_003824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003824	rs59616921 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]	SWISS	12	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Leu168Ser	VAR_003825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003825	rs61157095 EPPK [MIM:149100]	SWISS	17	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Leu168Ser	VAR_003825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003825	rs61157095 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]	SWISS	17	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Val171Met	VAR_035439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035439	rs57019720 EPPK [MIM:149100]	SWISS	20	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Val171Met	VAR_035439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035439	rs57019720 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]	SWISS	20	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Gln172Pro	VAR_010504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010504	rs59878153 EPPK [MIM:149100]	SWISS	21	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Gln172Pro	VAR_010504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010504	rs59878153 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]	SWISS	21	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Leu458Phe	VAR_036810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036810	rs58120120 EPPK [MIM:149100]	SWISS	377	pfam00038	55956899,NP_000217
3857	239938886	Disease	p.Leu458Phe	VAR_036810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036810	rs58120120 Palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]	SWISS	377	pfam00038	55956899,NP_000217
8942	3913982	Disease	p.Thr198Ala	VAR_054401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054401	- Hydroxykynureninuria [MIM:236800]	SWISS	137	pfam00266	4504937,NP_003928
8942	3913982	Disease	p.Thr198Ala	VAR_054401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054401	- Hydroxykynureninuria [MIM:236800]	SWISS	174	COG3844	4504937,NP_003928
8942	3913982	Disease	p.Thr198Ala	VAR_054401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054401	- Hydroxykynureninuria [MIM:236800]	SWISS	196	COG0520	4504937,NP_003928
3897	1705571	Disease	p.Trp9Ser	VAR_003921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003921	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	No Domain	N/A	4557707,NP_000416
3897	1705571	Disease	p.Gly121Ser	VAR_003922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003922	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	103	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Gly121Ser	VAR_003922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003922	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	69	cd05733	4557707,NP_000416
3897	1705571	Disease	p.Gly121Ser	VAR_003922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003922	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	67	cd05875	4557707,NP_000416
3897	1705571	Disease	p.Gly121Ser	VAR_003922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003922	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	67	cd05874	4557707,NP_000416
3897	1705571	Disease	p.Gly121Ser	VAR_003922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003922	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	227	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Gly121Ser	VAR_003922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003922	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	227	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Ile179Ser	VAR_003923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003923	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	46	cd05845	4557707,NP_000416
3897	1705571	Disease	p.Ile179Ser	VAR_003923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003923	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	116	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Ile179Ser	VAR_003923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003923	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	116	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Ile179Ser	VAR_003923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003923	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	48	cd05727	4557707,NP_000416
3897	1705571	Disease	p.Ile179Ser	VAR_003923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003923	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	46	cd05845	4557707,NP_000416
3897	1705571	Disease	p.Ile179Ser	VAR_003923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003923	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	116	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Ile179Ser	VAR_003923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003923	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	116	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Ile179Ser	VAR_003923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003923	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	48	cd05727	4557707,NP_000416
3897	1705571	Disease	p.Ile179Ser	VAR_003923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003923	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	46	cd05845	4557707,NP_000416
3897	1705571	Disease	p.Ile179Ser	VAR_003923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003923	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	116	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Ile179Ser	VAR_003923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003923	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	116	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Ile179Ser	VAR_003923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003923	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	48	cd05727	4557707,NP_000416
3897	1705571	Disease	p.Arg184Gln	VAR_003924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003924	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	51	cd05845	4557707,NP_000416
3897	1705571	Disease	p.Arg184Gln	VAR_003924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003924	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	123	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Arg184Gln	VAR_003924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003924	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	123	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Arg184Gln	VAR_003924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003924	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	53	cd05727	4557707,NP_000416
3897	1705571	Disease	p.Arg184Trp	VAR_030404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030404	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	51	cd05845	4557707,NP_000416
3897	1705571	Disease	p.Arg184Trp	VAR_030404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030404	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	123	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Arg184Trp	VAR_030404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030404	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	123	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Arg184Trp	VAR_030404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030404	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	53	cd05727	4557707,NP_000416
3897	1705571	Disease	p.Tyr194Cys	VAR_003925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003925	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	61	cd05845	4557707,NP_000416
3897	1705571	Disease	p.Tyr194Cys	VAR_003925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003925	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	178	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Tyr194Cys	VAR_003925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003925	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	178	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Tyr194Cys	VAR_003925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003925	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	64	cd05727	4557707,NP_000416
3897	1705571	Disease	p.Asp202Tyr	VAR_030405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030405	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	69	cd05845	4557707,NP_000416
3897	1705571	Disease	p.Asp202Tyr	VAR_030405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030405	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	189	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Asp202Tyr	VAR_030405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030405	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	189	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Asp202Tyr	VAR_030405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030405	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	72	cd05727	4557707,NP_000416
3897	1705571	Disease	p.His210Gln	VAR_003926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003926	rs28933683 Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	77	cd05845	4557707,NP_000416
3897	1705571	Disease	p.His210Gln	VAR_003926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003926	rs28933683 Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	201	smart00409	4557707,NP_000416
3897	1705571	Disease	p.His210Gln	VAR_003926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003926	rs28933683 Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	201	smart00410	4557707,NP_000416
3897	1705571	Disease	p.His210Gln	VAR_003926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003926	rs28933683 Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	79	cd05727	4557707,NP_000416
3897	1705571	Disease	p.Ile219Thr	VAR_003927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003927	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	86	cd05845	4557707,NP_000416
3897	1705571	Disease	p.Ile219Thr	VAR_003927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003927	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	230	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Ile219Thr	VAR_003927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003927	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	230	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Ile219Thr	VAR_003927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003927	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	90	cd05727	4557707,NP_000416
3897	1705571	Disease	p.Pro240Leu	VAR_003928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003928	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	8	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Pro240Leu	VAR_003928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003928	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	2	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Pro240Leu	VAR_003928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003928	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	2	cd05856	4557707,NP_000416
3897	1705571	Disease	p.Pro240Leu	VAR_003928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003928	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	2	cd07693	4557707,NP_000416
3897	1705571	Disease	p.Pro240Leu	VAR_003928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003928	- Partial agenesis of the corpus callosum [MIM:304100]	SWISS	8	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Pro240Leu	VAR_003928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003928	- Partial agenesis of the corpus callosum [MIM:304100]	SWISS	2	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Pro240Leu	VAR_003928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003928	- Partial agenesis of the corpus callosum [MIM:304100]	SWISS	2	cd05856	4557707,NP_000416
3897	1705571	Disease	p.Pro240Leu	VAR_003928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003928	- Partial agenesis of the corpus callosum [MIM:304100]	SWISS	2	cd07693	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	21	cd05722	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	25	cd05730	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	23	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	6	cd05723	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	18	cd05724	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	16	cd05857	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	18	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	18	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	16	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	16	cd05856	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	23	cd07693	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	23	cd05851	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	25	cd05740	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	8	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	8	pfam00047	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	8	cd05764	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	8	cd04969	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	8	cd05743	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	9	smart00408	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	9	cd05745	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	5	cd05750	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	5	cd05760	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	5	cd05746	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	5	cd05731	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	5	cd05876	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	5	cd00096	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	5	cd05725	4557707,NP_000416
3897	1705571	Disease	p.Cys264Tyr	VAR_003929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003929	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	23	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	25	cd05722	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	29	cd05730	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	27	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	10	cd05723	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	23	cd05724	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	20	cd05857	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	23	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	23	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	20	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	20	cd05856	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	27	cd07693	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	27	cd05851	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	29	cd05740	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	12	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	17	pfam00047	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	12	cd05764	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	12	cd04969	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	12	cd05743	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	14	smart00408	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	13	cd05745	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	9	cd05750	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	9	cd05760	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	9	cd05746	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	9	cd05731	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	9	cd05876	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	9	cd00096	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	9	cd05725	4557707,NP_000416
3897	1705571	Disease	p.Gly268Asp	VAR_030406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030406	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	27	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	75	cd05722	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	75	cd05730	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	68	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	54	cd05723	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	73	cd05724	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	65	cd05857	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	197	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	197	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	65	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	62	cd05856	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	78	cd07693	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	67	cd05851	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	71	cd05740	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	58	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	87	pfam00047	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	54	cd05764	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	67	cd04969	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	56	cd05743	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	117	smart00408	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	54	cd05745	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	61	cd05750	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	52	cd05760	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	50	cd05746	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	50	cd05731	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	50	cd05876	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	122	cd00096	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	52	cd05725	4557707,NP_000416
3897	1705571	Disease	p.Glu309Lys	VAR_003930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003930	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	92	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Trp335Cys	VAR_030407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030407	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	3	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Trp335Cys	VAR_030407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030407	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	2	cd05722	4557707,NP_000416
3897	1705571	Disease	p.Trp335Cys	VAR_030407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030407	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	2	cd05728	4557707,NP_000416
3897	1705571	Disease	p.Trp335Cys	VAR_030407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030407	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	4	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Trp335Arg	VAR_003931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003931	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	3	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Trp335Arg	VAR_003931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003931	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	2	cd05722	4557707,NP_000416
3897	1705571	Disease	p.Trp335Arg	VAR_003931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003931	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	2	cd05728	4557707,NP_000416
3897	1705571	Disease	p.Trp335Arg	VAR_003931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003931	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	4	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Trp335Arg	VAR_003931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003931	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	3	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Trp335Arg	VAR_003931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003931	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	2	cd05722	4557707,NP_000416
3897	1705571	Disease	p.Trp335Arg	VAR_003931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003931	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	2	cd05728	4557707,NP_000416
3897	1705571	Disease	p.Trp335Arg	VAR_003931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003931	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	4	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Trp335Arg	VAR_003931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003931	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	3	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Trp335Arg	VAR_003931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003931	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	2	cd05722	4557707,NP_000416
3897	1705571	Disease	p.Trp335Arg	VAR_003931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003931	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	2	cd05728	4557707,NP_000416
3897	1705571	Disease	p.Trp335Arg	VAR_003931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003931	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	4	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	50	smart00408	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	42	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	38	cd05722	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	37	cd05728	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	32	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	76	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	76	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	32	cd05857	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	23_G	cd05765	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	24	cd05743	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	24	cd05867	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	24	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	24	cd05868	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	35	cd00096	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	21	cd05763	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	40	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	35	cd05724	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	32	cd05856	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	50	smart00408	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	42	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	38	cd05722	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	37	cd05728	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	32	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	76	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	76	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	32	cd05857	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	23_G	cd05765	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	24	cd05743	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	24	cd05867	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	24	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	24	cd05868	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	35	cd00096	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	21	cd05763	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	40	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	35	cd05724	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	32	cd05856	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	50	smart00408	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	42	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	38	cd05722	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	37	cd05728	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	32	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	76	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	76	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	32	cd05857	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	23_G	cd05765	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	24	cd05743	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	24	cd05867	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	24	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	24	cd05868	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	35	cd00096	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	21	cd05763	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	40	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	35	cd05724	4557707,NP_000416
3897	1705571	Disease	p.Gly370Arg	VAR_003932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003932	- Spastic paraplegia X-linked type 1 (SPG1) [MIM:303350]	SWISS	32	cd05856	4557707,NP_000416
3897	1705571	Disease	p.Arg386Cys	VAR_003933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003933	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	101	smart00408	4557707,NP_000416
3897	1705571	Disease	p.Arg386Cys	VAR_003933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003933	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	70	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Arg386Cys	VAR_003933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003933	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	54	cd05722	4557707,NP_000416
3897	1705571	Disease	p.Arg386Cys	VAR_003933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003933	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	50	cd05728	4557707,NP_000416
3897	1705571	Disease	p.Arg386Cys	VAR_003933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003933	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	50	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Arg386Cys	VAR_003933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003933	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	152	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Arg386Cys	VAR_003933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003933	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	152	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Arg386Cys	VAR_003933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003933	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	50	cd05857	4557707,NP_000416
3897	1705571	Disease	p.Arg386Cys	VAR_003933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003933	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	47	cd05765	4557707,NP_000416
3897	1705571	Disease	p.Arg386Cys	VAR_003933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003933	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	41	cd05743	4557707,NP_000416
3897	1705571	Disease	p.Arg386Cys	VAR_003933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003933	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	40	cd05867	4557707,NP_000416
3897	1705571	Disease	p.Arg386Cys	VAR_003933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003933	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	42	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Arg386Cys	VAR_003933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003933	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	40	cd05868	4557707,NP_000416
3897	1705571	Disease	p.Arg386Cys	VAR_003933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003933	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	91	cd00096	4557707,NP_000416
3897	1705571	Disease	p.Arg386Cys	VAR_003933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003933	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	39	cd05763	4557707,NP_000416
3897	1705571	Disease	p.Arg386Cys	VAR_003933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003933	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	53	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Arg386Cys	VAR_003933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003933	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	56	cd05724	4557707,NP_000416
3897	1705571	Disease	p.Arg386Cys	VAR_003933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003933	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	48_G	cd05856	4557707,NP_000416
3897	1705571	Disease	p.Asn408Ile	VAR_030408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030408	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	124	smart00408	4557707,NP_000416
3897	1705571	Disease	p.Asn408Ile	VAR_030408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030408	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	99	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Asn408Ile	VAR_030408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030408	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	82	cd05722	4557707,NP_000416
3897	1705571	Disease	p.Asn408Ile	VAR_030408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030408	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	72	cd05728	4557707,NP_000416
3897	1705571	Disease	p.Asn408Ile	VAR_030408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030408	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	72	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Asn408Ile	VAR_030408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030408	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	219	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Asn408Ile	VAR_030408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030408	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	219	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Asn408Ile	VAR_030408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030408	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	72	cd05857	4557707,NP_000416
3897	1705571	Disease	p.Asn408Ile	VAR_030408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030408	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	69	cd05765	4557707,NP_000416
3897	1705571	Disease	p.Asn408Ile	VAR_030408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030408	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	63	cd05743	4557707,NP_000416
3897	1705571	Disease	p.Asn408Ile	VAR_030408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030408	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	62	cd05867	4557707,NP_000416
3897	1705571	Disease	p.Asn408Ile	VAR_030408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030408	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	65	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Asn408Ile	VAR_030408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030408	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	62	cd05868	4557707,NP_000416
3897	1705571	Disease	p.Asn408Ile	VAR_030408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030408	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	129	cd00096	4557707,NP_000416
3897	1705571	Disease	p.Asn408Ile	VAR_030408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030408	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	61	cd05763	4557707,NP_000416
3897	1705571	Disease	p.Asn408Ile	VAR_030408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030408	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	75	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Asn408Ile	VAR_030408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030408	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	80	cd05724	4557707,NP_000416
3897	1705571	Disease	p.Asn408Ile	VAR_030408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030408	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	69	cd05856	4557707,NP_000416
3897	1705571	Disease	p.Ala415Pro	VAR_027512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027512	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	107	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Ala415Pro	VAR_027512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027512	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	90	cd05722	4557707,NP_000416
3897	1705571	Disease	p.Ala415Pro	VAR_027512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027512	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	79	cd05728	4557707,NP_000416
3897	1705571	Disease	p.Ala415Pro	VAR_027512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027512	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	79	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Ala415Pro	VAR_027512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027512	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	237	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Ala415Pro	VAR_027512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027512	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	237	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Ala415Pro	VAR_027512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027512	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	79	cd05857	4557707,NP_000416
3897	1705571	Disease	p.Ala415Pro	VAR_027512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027512	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	76	cd05765	4557707,NP_000416
3897	1705571	Disease	p.Ala415Pro	VAR_027512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027512	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	70	cd05743	4557707,NP_000416
3897	1705571	Disease	p.Ala415Pro	VAR_027512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027512	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	69	cd05867	4557707,NP_000416
3897	1705571	Disease	p.Ala415Pro	VAR_027512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027512	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	73	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Ala415Pro	VAR_027512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027512	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	69	cd05868	4557707,NP_000416
3897	1705571	Disease	p.Ala415Pro	VAR_027512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027512	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	167	cd00096	4557707,NP_000416
3897	1705571	Disease	p.Ala415Pro	VAR_027512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027512	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	68	cd05763	4557707,NP_000416
3897	1705571	Disease	p.Ala415Pro	VAR_027512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027512	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	82	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Ala415Pro	VAR_027512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027512	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	88	cd05724	4557707,NP_000416
3897	1705571	Disease	p.Ala415Pro	VAR_027512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027512	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	76	cd05856	4557707,NP_000416
3897	1705571	Disease	p.Val421Asp	VAR_030409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030409	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	250	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Val421Asp	VAR_030409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030409	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	250	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Val421Asp	VAR_030409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030409	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	75	cd05867	4557707,NP_000416
3897	1705571	Disease	p.Val421Asp	VAR_030409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030409	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	79	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Val421Asp	VAR_030409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030409	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	75	cd05868	4557707,NP_000416
3897	1705571	Disease	p.Val421Asp	VAR_030409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030409	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	74	cd05763	4557707,NP_000416
3897	1705571	Disease	p.Val421Asp	VAR_030409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030409	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	88	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Ala426Asp	VAR_030410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030410	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	No Domain	N/A	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	VAR_003935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003935	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	20	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	VAR_003935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003935	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	23	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	VAR_003935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003935	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	23	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	VAR_003935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003935	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	13	cd05745	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	VAR_003935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003935	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	14	smart00408	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	VAR_003935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003935	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	12	cd05764	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	VAR_003935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003935	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	12	cd04969	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	VAR_003935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003935	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	12	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	VAR_003935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003935	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	9	cd05725	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	VAR_003935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003935	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	9	cd05736	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	VAR_003935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003935	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	9	cd00096	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	VAR_003935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003935	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	9	cd05746	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	VAR_003935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003935	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	27	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	VAR_003935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003935	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	27	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Gly452Arg	VAR_003935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003935	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	25	cd05728	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	40	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	121	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	121	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	33	cd05745	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	86	smart00408	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	33	cd05764	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	46	cd04969	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	42	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	30	cd05725	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	31	cd05736	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	85	cd00096	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	29	cd05746	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	62	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	48	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	45	cd05728	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	40	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	121	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	121	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	33	cd05745	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	86	smart00408	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	33	cd05764	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	46	cd04969	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	42	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	30	cd05725	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	31	cd05736	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	85	cd00096	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	29	cd05746	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	62	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	48	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Arg473Cys	VAR_003936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003936	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	45	cd05728	4557707,NP_000416
3897	1705571	Disease	p.Leu482Pro	VAR_030411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030411	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	53	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Leu482Pro	VAR_030411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030411	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	175	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Leu482Pro	VAR_030411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030411	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	175	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Leu482Pro	VAR_030411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030411	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	42	cd05745	4557707,NP_000416
3897	1705571	Disease	p.Leu482Pro	VAR_030411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030411	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	104	smart00408	4557707,NP_000416
3897	1705571	Disease	p.Leu482Pro	VAR_030411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030411	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	42	cd05764	4557707,NP_000416
3897	1705571	Disease	p.Leu482Pro	VAR_030411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030411	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	55	cd04969	4557707,NP_000416
3897	1705571	Disease	p.Leu482Pro	VAR_030411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030411	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	45	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Leu482Pro	VAR_030411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030411	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	40	cd05725	4557707,NP_000416
3897	1705571	Disease	p.Leu482Pro	VAR_030411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030411	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	41	cd05736	4557707,NP_000416
3897	1705571	Disease	p.Leu482Pro	VAR_030411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030411	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	94	cd00096	4557707,NP_000416
3897	1705571	Disease	p.Leu482Pro	VAR_030411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030411	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	38	cd05746	4557707,NP_000416
3897	1705571	Disease	p.Leu482Pro	VAR_030411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030411	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	80	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Leu482Pro	VAR_030411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030411	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	56	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Leu482Pro	VAR_030411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030411	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	53	cd05728	4557707,NP_000416
3897	1705571	Disease	p.Cys497Tyr	VAR_030412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030412	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	68	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Cys497Tyr	VAR_030412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030412	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	200	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Cys497Tyr	VAR_030412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030412	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	200	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Cys497Tyr	VAR_030412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030412	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	57	cd05745	4557707,NP_000416
3897	1705571	Disease	p.Cys497Tyr	VAR_030412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030412	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	120	smart00408	4557707,NP_000416
3897	1705571	Disease	p.Cys497Tyr	VAR_030412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030412	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	57	cd05764	4557707,NP_000416
3897	1705571	Disease	p.Cys497Tyr	VAR_030412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030412	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	70	cd04969	4557707,NP_000416
3897	1705571	Disease	p.Cys497Tyr	VAR_030412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030412	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	61	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Cys497Tyr	VAR_030412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030412	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	55	cd05725	4557707,NP_000416
3897	1705571	Disease	p.Cys497Tyr	VAR_030412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030412	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	56	cd05736	4557707,NP_000416
3897	1705571	Disease	p.Cys497Tyr	VAR_030412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030412	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	125	cd00096	4557707,NP_000416
3897	1705571	Disease	p.Cys497Tyr	VAR_030412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030412	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	53	cd05746	4557707,NP_000416
3897	1705571	Disease	p.Cys497Tyr	VAR_030412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030412	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	95	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Cys497Tyr	VAR_030412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030412	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	71	cd04968	4557707,NP_000416
3897	1705571	Disease	p.Cys497Tyr	VAR_030412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030412	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	68	cd05728	4557707,NP_000416
3897	1705571	Disease	p.Ser542Pro	VAR_030414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030414	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	24	cd05728	4557707,NP_000416
3897	1705571	Disease	p.Ser542Pro	VAR_030414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030414	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	19	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Ser542Pro	VAR_030414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030414	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	21	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Ser542Pro	VAR_030414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030414	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	21	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Ser542Pro	VAR_030414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030414	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	24	cd05722	4557707,NP_000416
3897	1705571	Disease	p.Ser542Pro	VAR_030414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030414	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	29	cd04967	4557707,NP_000416
3897	1705571	Disease	p.Ser542Pro	VAR_030414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030414	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	11	cd04969	4557707,NP_000416
3897	1705571	Disease	p.Ser542Pro	VAR_030414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030414	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	11	pfam00047	4557707,NP_000416
3897	1705571	Disease	p.Ser542Pro	VAR_030414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030414	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	11	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Ser542Pro	VAR_030414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030414	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	20_G	cd05724	4557707,NP_000416
3897	1705571	Disease	p.Ser542Pro	VAR_030414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030414	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	10	cd05853	4557707,NP_000416
3897	1705571	Disease	p.Ser542Pro	VAR_030414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030414	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	10	cd04970	4557707,NP_000416
3897	1705571	Disease	p.Ser542Pro	VAR_030414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030414	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	26	cd07693	4557707,NP_000416
3897	1705571	Disease	p.Ser542Pro	VAR_030414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030414	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	13	smart00408	4557707,NP_000416
3897	1705571	Disease	p.Ser542Pro	VAR_030414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030414	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	12	cd05745	4557707,NP_000416
3897	1705571	Disease	p.Ser542Pro	VAR_030414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030414	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	8	cd00096	4557707,NP_000416
3897	1705571	Disease	p.Ser542Pro	VAR_030414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030414	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	8	cd05746	4557707,NP_000416
3897	1705571	Disease	p.Ser542Pro	VAR_030414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030414	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	26	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	VAR_003937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003937	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	75	cd05728	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	VAR_003937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003937	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	84	cd05729	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	VAR_003937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003937	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	227	smart00409	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	VAR_003937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003937	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	227	smart00410	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	VAR_003937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003937	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	86	cd05722	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	VAR_003937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003937	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	83	cd04967	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	VAR_003937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003937	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	77	cd04969	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	VAR_003937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003937	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	78	cd04978	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	VAR_003937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003937	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	83	cd05724	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	VAR_003937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003937	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	71	cd05853	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	VAR_003937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003937	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	71	cd04970	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	VAR_003937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003937	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	88	cd07693	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	VAR_003937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003937	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	64	cd05745	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	VAR_003937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003937	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	165	cd00096	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	VAR_003937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003937	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	60	cd05746	4557707,NP_000416
3897	1705571	Disease	p.Asp598Asn	VAR_003937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003937	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	103	pfam07679	4557707,NP_000416
3897	1705571	Disease	p.Arg632Pro	VAR_003938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003938	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	21	pfam00041	4557707,NP_000416
3897	1705571	Disease	p.Arg632Pro	VAR_003938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003938	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	40	cd00063	4557707,NP_000416
3897	1705571	Disease	p.Arg632Pro	VAR_003938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003938	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	27	smart00060	4557707,NP_000416
3897	1705571	Disease	p.Lys655Glu	VAR_030415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030415	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	49	pfam00041	4557707,NP_000416
3897	1705571	Disease	p.Lys655Glu	VAR_030415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030415	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	69	cd00063	4557707,NP_000416
3897	1705571	Disease	p.Lys655Glu	VAR_030415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030415	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	69	smart00060	4557707,NP_000416
3897	1705571	Disease	p.Ser674Cys	VAR_027513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027513	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	85	pfam00041	4557707,NP_000416
3897	1705571	Disease	p.Ser674Cys	VAR_027513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027513	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	136	cd00063	4557707,NP_000416
3897	1705571	Disease	p.Ser674Cys	VAR_027513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027513	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	156	smart00060	4557707,NP_000416
3897	1705571	Disease	p.Ala691Asp	VAR_003939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003939	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	105	pfam00041	4557707,NP_000416
3897	1705571	Disease	p.Ala691Asp	VAR_003939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003939	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	161	cd00063	4557707,NP_000416
3897	1705571	Disease	p.Ala691Asp	VAR_003939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003939	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	181	smart00060	4557707,NP_000416
3897	1705571	Disease	p.Ala691Thr	VAR_030416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030416	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	105	pfam00041	4557707,NP_000416
3897	1705571	Disease	p.Ala691Thr	VAR_030416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030416	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	161	cd00063	4557707,NP_000416
3897	1705571	Disease	p.Ala691Thr	VAR_030416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030416	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	181	smart00060	4557707,NP_000416
3897	1705571	Disease	p.Gly698Arg	VAR_003940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003940	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	114	pfam00041	4557707,NP_000416
3897	1705571	Disease	p.Gly698Arg	VAR_003940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003940	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	174	cd00063	4557707,NP_000416
3897	1705571	Disease	p.Gly698Arg	VAR_003940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003940	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	114	pfam00041	4557707,NP_000416
3897	1705571	Disease	p.Gly698Arg	VAR_003940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003940	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	174	cd00063	4557707,NP_000416
3897	1705571	Disease	p.Met741Thr	VAR_030418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030418	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	49	cd00063	4557707,NP_000416
3897	1705571	Disease	p.Met741Thr	VAR_030418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030418	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	41	smart00060	4557707,NP_000416
3897	1705571	Disease	p.Met741Thr	VAR_030418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030418	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	30	pfam00041	4557707,NP_000416
3897	1705571	Disease	p.Arg751Pro	VAR_030419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030419	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	63	cd00063	4557707,NP_000416
3897	1705571	Disease	p.Arg751Pro	VAR_030419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030419	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	67	smart00060	4557707,NP_000416
3897	1705571	Disease	p.Arg751Pro	VAR_030419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030419	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	40	pfam00041	4557707,NP_000416
3897	1705571	Disease	p.Val752Met	VAR_014421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014421	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	64	cd00063	4557707,NP_000416
3897	1705571	Disease	p.Val752Met	VAR_014421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014421	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	68	smart00060	4557707,NP_000416
3897	1705571	Disease	p.Val752Met	VAR_014421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014421	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	pfam00041	4557707,NP_000416
3897	1705571	Disease	p.Val752Met	VAR_014421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014421	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	64	cd00063	4557707,NP_000416
3897	1705571	Disease	p.Val752Met	VAR_014421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014421	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	68	smart00060	4557707,NP_000416
3897	1705571	Disease	p.Val752Met	VAR_014421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014421	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	41	pfam00041	4557707,NP_000416
3897	1705571	Disease	p.Val752Met	VAR_014421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014421	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	64	cd00063	4557707,NP_000416
3897	1705571	Disease	p.Val752Met	VAR_014421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014421	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	68	smart00060	4557707,NP_000416
3897	1705571	Disease	p.Val752Met	VAR_014421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014421	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	41	pfam00041	4557707,NP_000416
3897	1705571	Disease	p.Val768Phe	VAR_003941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003941	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	100	cd00063	4557707,NP_000416
3897	1705571	Disease	p.Val768Phe	VAR_003941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003941	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	121	smart00060	4557707,NP_000416
3897	1705571	Disease	p.Val768Phe	VAR_003941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003941	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	73	pfam00041	4557707,NP_000416
3897	1705571	Disease	p.Asp770Asn	VAR_027514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027514	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	134	cd00063	4557707,NP_000416
3897	1705571	Disease	p.Asp770Asn	VAR_027514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027514	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	153	smart00060	4557707,NP_000416
3897	1705571	Disease	p.Asp770Asn	VAR_027514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027514	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	75	pfam00041	4557707,NP_000416
3897	1705571	Disease	p.Tyr784Cys	VAR_003942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003942	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	155	cd00063	4557707,NP_000416
3897	1705571	Disease	p.Tyr784Cys	VAR_003942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003942	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	175	smart00060	4557707,NP_000416
3897	1705571	Disease	p.Tyr784Cys	VAR_003942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003942	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	98	pfam00041	4557707,NP_000416
3897	1705571	Disease	p.Leu935Pro	VAR_003943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003943	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	27	smart00060	4557707,NP_000416
3897	1705571	Disease	p.Leu935Pro	VAR_003943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003943	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	40	cd00063	4557707,NP_000416
3897	1705571	Disease	p.Leu935Pro	VAR_003943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003943	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	21	pfam00041	4557707,NP_000416
3897	1705571	Disease	p.Pro941Leu	VAR_003945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003945	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	35	smart00060	4557707,NP_000416
3897	1705571	Disease	p.Pro941Leu	VAR_003945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003945	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	46	cd00063	4557707,NP_000416
3897	1705571	Disease	p.Pro941Leu	VAR_003945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003945	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	27	pfam00041	4557707,NP_000416
3897	1705571	Disease	p.Pro941Leu	VAR_003945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003945	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	35	smart00060	4557707,NP_000416
3897	1705571	Disease	p.Pro941Leu	VAR_003945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003945	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	46	cd00063	4557707,NP_000416
3897	1705571	Disease	p.Pro941Leu	VAR_003945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003945	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	27	pfam00041	4557707,NP_000416
3897	1705571	Disease	p.Tyr1070Cys	VAR_003946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003946	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	No Domain	N/A	4557707,NP_000416
3897	1705571	Disease	p.Ser1194Leu	VAR_003947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003947	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	No Domain	N/A	4557707,NP_000416
3897	1705571	Disease	p.Ser1194Leu	VAR_003947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003947	- Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]	SWISS	No Domain	N/A	4557707,NP_000416
3897	1705571	Disease	p.Ser1224Leu	VAR_003948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003948	- Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]	SWISS	No Domain	N/A	4557707,NP_000416
79944	90101396	Disease	p.Gly55Asp	VAR_025682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025682	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	6	pfam01266	NULL
79944	90101396	Disease	p.Gly55Asp	VAR_025682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025682	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	10	COG0579	NULL
79944	90101396	Disease	p.Gly55Asp	VAR_025682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025682	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	11	COG0665	NULL
79944	90101396	Disease	p.Gly57Arg	VAR_025683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025683	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	9	pfam01266	NULL
79944	90101396	Disease	p.Gly57Arg	VAR_025683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025683	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	12	COG0579	NULL
79944	90101396	Disease	p.Gly57Arg	VAR_025683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025683	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	14	COG0665	NULL
79944	90101396	Disease	p.Lys81Glu	VAR_025684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025684	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	43	pfam01266	NULL
79944	90101396	Disease	p.Lys81Glu	VAR_025684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025684	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	36	COG0579	NULL
79944	90101396	Disease	p.Lys81Glu	VAR_025684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025684	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	44	COG0665	NULL
79944	90101396	Disease	p.His98Arg	VAR_025685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025685	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	102	pfam01266	NULL
79944	90101396	Disease	p.His98Arg	VAR_025685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025685	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	55	COG0579	NULL
79944	90101396	Disease	p.His98Arg	VAR_025685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025685	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	68	COG0665	NULL
79944	90101396	Disease	p.His98Tyr	VAR_025686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025686	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	102	pfam01266	NULL
79944	90101396	Disease	p.His98Tyr	VAR_025686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025686	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	55	COG0579	NULL
79944	90101396	Disease	p.His98Tyr	VAR_025686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025686	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	68	COG0665	NULL
79944	90101396	Disease	p.Glu176Asp	VAR_025687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025687	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	412	pfam01266	NULL
79944	90101396	Disease	p.Glu176Asp	VAR_025687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025687	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	163	COG0579	NULL
79944	90101396	Disease	p.Glu176Asp	VAR_025687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025687	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	202	COG0665	NULL
79944	90101396	Disease	p.Pro302Leu	VAR_025689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025689	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	812	pfam01266	NULL
79944	90101396	Disease	p.Pro302Leu	VAR_025689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025689	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	314	COG0579	NULL
79944	90101396	Disease	p.Pro302Leu	VAR_025689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025689	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	358	COG0665	NULL
79944	90101396	Disease	p.His434Pro	VAR_025690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025690	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	1511	pfam01266	NULL
79944	90101396	Disease	p.His434Pro	VAR_025690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025690	- L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]	SWISS	468	COG0579	NULL
3908	215274259	Disease	p.Cys527Tyr	VAR_015743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015743	- Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) [MIM:607855]	SWISS	No Domain	N/A	NULL
3908	215274259	Disease	p.Cys862Arg	VAR_015744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015744	- Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) [MIM:607855]	SWISS	94	cd00055	NULL
3908	215274259	Disease	p.Leu2564Pro	VAR_015745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015745	- Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) [MIM:607855]	SWISS	58	cd00110	NULL
3908	215274259	Disease	p.Leu2564Pro	VAR_015745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015745	- Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) [MIM:607855]	SWISS	43	smart00282	NULL
3908	215274259	Disease	p.Leu2564Pro	VAR_015745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015745	- Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) [MIM:607855]	SWISS	14	pfam02210	NULL
3908	215274259	Disease	p.Leu2564Pro	VAR_015745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015745	- Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) [MIM:607855]	SWISS	11	pfam00054	NULL
3913	156630892	Disease	p.Arg246Gln	VAR_031968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031968	- Congenital nephrotic syndrome [MIM:609049]	SWISS	284	smart00136	119703755,NP_002283
3913	156630892	Disease	p.Arg246Gln	VAR_031968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031968	- Congenital nephrotic syndrome [MIM:609049]	SWISS	221	pfam00055	119703755,NP_002283
3913	156630892	Disease	p.Arg246Trp	VAR_031969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031969	- Pierson syndrome [MIM:609049]	SWISS	284	smart00136	119703755,NP_002283
3913	156630892	Disease	p.Arg246Trp	VAR_031969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031969	- Pierson syndrome [MIM:609049]	SWISS	221	pfam00055	119703755,NP_002283
3913	156630892	Disease	p.Cys321Arg	VAR_031970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031970	- Congenital nephrotic syndrome [MIM:609049]	SWISS	61	cd00055	119703755,NP_002283
3913	156630892	Disease	p.Cys321Arg	VAR_031970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031970	- Congenital nephrotic syndrome [MIM:609049]	SWISS	48	pfam00053	119703755,NP_002283
3913	156630892	Disease	p.Cys321Arg	VAR_031970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031970	- Congenital nephrotic syndrome [MIM:609049]	SWISS	74	smart00180	119703755,NP_002283
3913	156630892	Disease	p.Asn1380Lys	VAR_031972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031972	- Congenital nephrotic syndrome [MIM:609049]	SWISS	No Domain	N/A	119703755,NP_002283
3913	156630892	Disease	p.Leu1393Phe	VAR_031973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031973	- Congenital nephrotic syndrome [MIM:609049]	SWISS	No Domain	N/A	119703755,NP_002283
3914	2497600	Disease	p.Gly199Ala	VAR_037310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037310	- Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]	SWISS	197	pfam00055	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Gly199Ala	VAR_037310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037310	- Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]	SWISS	264	smart00136	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Lys207Gln	VAR_037311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037311	- Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]	SWISS	210	pfam00055	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Lys207Gln	VAR_037311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037311	- Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]	SWISS	273	smart00136	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Glu210Lys	VAR_004170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004170	- Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]	SWISS	213	pfam00055	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Glu210Lys	VAR_004170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004170	- Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]	SWISS	276	smart00136	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3914	2497600	Disease	p.Pro679Leu	VAR_004171	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004171	- Epidermolysis bullosa junctional Herlitz type (H-JEB) [MIM:226700]	SWISS	No Domain	N/A	189083719,NP_001121113|62868217,NP_001017402|62868215,NP_000219
3920	1708854	Disease	p.Trp321Arg	VAR_026230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026230	- Danon disease (DAND) [MIM:300257]	SWISS	277	pfam01299	4504957,NP_002285
9215	22001684	Disease	p.Glu509Lys	VAR_019811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019811	- Congenital muscular dystrophy type 1D (MDC1D) [MIM:608840]	SWISS	No Domain	N/A	4758664,NP_004728|19924141,NP_598397
3930	20141468	Disease	p.Pro119Leu	VAR_017841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017841	- Pelger-Huet anomaly (PHA) [MIM:169400]	SWISS	No Domain	N/A	37595752,NP_919424|37595750,NP_002287
3930	20141468	Disease	p.Pro569Arg	VAR_017842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017842	- Pelger-Huet anomaly (PHA) [MIM:169400]	SWISS	461	pfam01222	37595752,NP_919424|37595750,NP_002287
3931	125993	Disease	p.Asn29Ile	VAR_039020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039020	- Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	No Domain	N/A	4557892,NP_000220
3931	125993	Disease	p.Pro34Leu	VAR_004252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004252	- Fish-eye disease (FED) [MIM:136120]	SWISS	No Domain	N/A	4557892,NP_000220
3931	125993	Disease	p.Pro34Gln	VAR_039021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039021	- Fish-eye disease (FED) [MIM:136120]	SWISS	No Domain	N/A	4557892,NP_000220
3931	125993	Disease	p.Thr37Met	VAR_039022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039022	- Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	No Domain	N/A	4557892,NP_000220
3931	125993	Disease	p.Gly54Ser	VAR_004253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004253	- Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	No Domain	N/A	4557892,NP_000220
3931	125993	Disease	p.Gly57Arg	VAR_004254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004254	- Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	No Domain	N/A	4557892,NP_000220
3931	125993	Disease	p.Val70Glu	VAR_039023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039023	- Fish-eye disease (FED) [MIM:136120]	SWISS	No Domain	N/A	4557892,NP_000220
3931	125993	Disease	p.Ala117Thr	VAR_004255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004255	rs28940886 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	47	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Arg123Cys	VAR_039026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039026	- Fish-eye disease (FED) [MIM:136120]	SWISS	53	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Thr147Ile	VAR_004256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004256	- Fish-eye disease (FED) [MIM:136120]	SWISS	87	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Arg159Gln	VAR_039027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039027	- Fish-eye disease (FED) [MIM:136120]	SWISS	99	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Arg159Trp	VAR_004257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004257	rs28940887 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	99	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Arg164Cys	VAR_039028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039028	- Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	104	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Arg164His	VAR_004258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004258	- Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	104	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Arg171Trp	VAR_004259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004259	- Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	111	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Tyr180Asn	VAR_004260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004260	- Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	123	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Ser205Asn	VAR_039030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039030	- Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	149	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Leu233Pro	VAR_004262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004262	rs28942087 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	187	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Lys242Asn	VAR_039031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039031	- Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	196	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Asn252Lys	VAR_004263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004263	- Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	212	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Arg268His	VAR_039032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039032	- Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	236	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Met276Lys	VAR_004264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004264	- Fish-eye disease (FED) [MIM:136120]	SWISS	249	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Thr298Ala	VAR_039033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039033	- Fish-eye disease (FED) [MIM:136120]	SWISS	295	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Thr298Ala	VAR_039033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039033	- Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	295	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Thr298Ile	VAR_039034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039034	- Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	295	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Met317Ile	VAR_004265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004265	- Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	324	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Pro331Ser	VAR_039035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039035	- Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	360	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Val333Met	VAR_039036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039036	- Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	362	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Thr345Met	VAR_004266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004266	rs28940888 Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	374	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Thr371Met	VAR_004267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004267	- Fish-eye disease (FED) [MIM:136120]	SWISS	425	pfam02450	4557892,NP_000220
3931	125993	Disease	p.Phe406Val	VAR_039038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039038	- Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]	SWISS	494	pfam02450	4557892,NP_000220
3938	311033425	Disease	p.Gln268His	VAR_026706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026706	- Congenital lactase deficiency [MIM:223000]	SWISS	No Domain	N/A	32481206,NP_002290
3938	311033425	Disease	p.Gly1363Ser	VAR_026708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026708	- Congenital lactase deficiency [MIM:223000]	SWISS	577	COG2723	32481206,NP_002290
3938	311033425	Disease	p.Gly1363Ser	VAR_026708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026708	- Congenital lactase deficiency [MIM:223000]	SWISS	522	pfam00232	32481206,NP_002290
11155	83288256	Disease	p.Ser189Leu	VAR_024009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024009	rs45487699 Cardiomyopathy dilated type 1C (CMD1C) [MIM:601493]	SWISS	No Domain	N/A	45592959,NP_009009
11155	83288256	Disease	p.Thr206Ile	VAR_024010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024010	- Cardiomyopathy dilated type 1C (CMD1C) [MIM:601493]	SWISS	18	smart00735	45592959,NP_009009
11155	83288256	Disease	p.Ile345Met	VAR_024011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024011	- Cardiomyopathy dilated type 1C (CMD1C) [MIM:601493]	SWISS	No Domain	N/A	45592959,NP_009009
11155	83288256	Disease	p.Asp673Asn	VAR_024013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024013	rs45514002 Cardiomyopathy dilated type 1C (CMD1C) [MIM:601493]	SWISS	5	pfam00412	45592959,NP_009009
11155	83288256	Disease	p.Asp673Asn	VAR_024013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024013	rs45514002 Cardiomyopathy dilated type 1C (CMD1C) [MIM:601493]	SWISS	6	smart00132	45592959,NP_009009
3949	126073	Disease	p.Cys46Ser	VAR_013949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013949	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	39	smart00192	4504975,NP_000518
3949	126073	Disease	p.Cys46Ser	VAR_013949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013949	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	48	cd00112	4504975,NP_000518
3949	126073	Disease	p.Cys46Ser	VAR_013949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013949	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	35	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Ala50Ser	VAR_007979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007979	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	46	smart00192	4504975,NP_000518
3949	126073	Disease	p.Ala50Ser	VAR_007979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007979	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	55	cd00112	4504975,NP_000518
3949	126073	Disease	p.Ala50Ser	VAR_007979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007979	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	42	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Ser56Pro	VAR_007980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007980	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	59	smart00192	4504975,NP_000518
3949	126073	Disease	p.Ser56Pro	VAR_007980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007980	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	68	cd00112	4504975,NP_000518
3949	126073	Disease	p.Ser56Pro	VAR_007980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007980	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	53	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Arg78Cys	VAR_005307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005307	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	24	smart00192	4504975,NP_000518
3949	126073	Disease	p.Arg78Cys	VAR_005307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005307	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	27	cd00112	4504975,NP_000518
3949	126073	Disease	p.Arg78Cys	VAR_005307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005307	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	18	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Trp87Gly	VAR_005308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005308	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	35	smart00192	4504975,NP_000518
3949	126073	Disease	p.Trp87Gly	VAR_005308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005308	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	46	cd00112	4504975,NP_000518
3949	126073	Disease	p.Trp87Gly	VAR_005308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005308	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	33	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Cys89Tyr	VAR_005309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005309	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	39	smart00192	4504975,NP_000518
3949	126073	Disease	p.Cys89Tyr	VAR_005309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005309	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	48	cd00112	4504975,NP_000518
3949	126073	Disease	p.Cys89Tyr	VAR_005309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005309	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	35	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Asp90Asn	VAR_005311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005311	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	40	smart00192	4504975,NP_000518
3949	126073	Disease	p.Asp90Asn	VAR_005311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005311	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	49	cd00112	4504975,NP_000518
3949	126073	Disease	p.Asp90Asn	VAR_005311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005311	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	39	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Asp90Tyr	VAR_005312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005312	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	40	smart00192	4504975,NP_000518
3949	126073	Disease	p.Asp90Tyr	VAR_005312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005312	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	49	cd00112	4504975,NP_000518
3949	126073	Disease	p.Asp90Tyr	VAR_005312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005312	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	39	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Gln92Glu	VAR_005313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005313	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	45	smart00192	4504975,NP_000518
3949	126073	Disease	p.Gln92Glu	VAR_005313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005313	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	54	cd00112	4504975,NP_000518
3949	126073	Disease	p.Gln92Glu	VAR_005313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005313	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	41	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Cys95Gly	VAR_005314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005314	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	48	smart00192	4504975,NP_000518
3949	126073	Disease	p.Cys95Gly	VAR_005314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005314	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	57	cd00112	4504975,NP_000518
3949	126073	Disease	p.Cys95Gly	VAR_005314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005314	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	44	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Glu101Lys	VAR_005315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005315	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	70	cd00112	4504975,NP_000518
3949	126073	Disease	p.Glu101Lys	VAR_005315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005315	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	55	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Cys116Arg	VAR_005317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005317	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	13	smart00192	4504975,NP_000518
3949	126073	Disease	p.Cys116Arg	VAR_005317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005317	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	24	cd00112	4504975,NP_000518
3949	126073	Disease	p.Cys116Arg	VAR_005317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005317	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	15	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Cys134Phe	VAR_062371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062371	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	48	smart00192	4504975,NP_000518
3949	126073	Disease	p.Cys134Phe	VAR_062371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062371	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	57	cd00112	4504975,NP_000518
3949	126073	Disease	p.Cys134Phe	VAR_062371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062371	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	44	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Cys134Trp	VAR_062372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062372	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	48	smart00192	4504975,NP_000518
3949	126073	Disease	p.Cys134Trp	VAR_062372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062372	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	57	cd00112	4504975,NP_000518
3949	126073	Disease	p.Cys134Trp	VAR_062372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062372	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	44	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Glu140Lys	VAR_005318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005318	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	70	cd00112	4504975,NP_000518
3949	126073	Disease	p.Glu140Lys	VAR_005318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005318	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	55	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Cys160Tyr	VAR_005320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005320	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	30	smart00192	4504975,NP_000518
3949	126073	Disease	p.Cys160Tyr	VAR_005320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005320	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	40	cd00112	4504975,NP_000518
3949	126073	Disease	p.Cys160Tyr	VAR_005320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005320	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	27	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Asp168His	VAR_005321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005321	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	40	smart00192	4504975,NP_000518
3949	126073	Disease	p.Asp168His	VAR_005321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005321	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	49	cd00112	4504975,NP_000518
3949	126073	Disease	p.Asp168His	VAR_005321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005321	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	39	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Asp168Asn	VAR_005322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005322	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	40	smart00192	4504975,NP_000518
3949	126073	Disease	p.Asp168Asn	VAR_005322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005322	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	49	cd00112	4504975,NP_000518
3949	126073	Disease	p.Asp168Asn	VAR_005322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005322	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	39	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Asp168Tyr	VAR_005323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005323	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	40	smart00192	4504975,NP_000518
3949	126073	Disease	p.Asp168Tyr	VAR_005323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005323	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	49	cd00112	4504975,NP_000518
3949	126073	Disease	p.Asp168Tyr	VAR_005323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005323	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	39	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Cys173Trp	VAR_005325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005325	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	48	smart00192	4504975,NP_000518
3949	126073	Disease	p.Cys173Trp	VAR_005325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005325	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	57	cd00112	4504975,NP_000518
3949	126073	Disease	p.Cys173Trp	VAR_005325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005325	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	44	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Asp175Asn	VAR_005326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005326	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	57	smart00192	4504975,NP_000518
3949	126073	Disease	p.Asp175Asn	VAR_005326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005326	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	66	cd00112	4504975,NP_000518
3949	126073	Disease	p.Asp175Asn	VAR_005326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005326	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	51	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Asp175Tyr	VAR_007981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007981	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	57	smart00192	4504975,NP_000518
3949	126073	Disease	p.Asp175Tyr	VAR_007981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007981	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	66	cd00112	4504975,NP_000518
3949	126073	Disease	p.Asp175Tyr	VAR_007981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007981	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	51	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Ser177Leu	VAR_005327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005327	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	59	smart00192	4504975,NP_000518
3949	126073	Disease	p.Ser177Leu	VAR_005327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005327	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	68	cd00112	4504975,NP_000518
3949	126073	Disease	p.Ser177Leu	VAR_005327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005327	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	53	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Cys184Tyr	VAR_013951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013951	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Cys197Arg	VAR_005330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005330	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	2	smart00192	4504975,NP_000518
3949	126073	Disease	p.Cys197Arg	VAR_005330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005330	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	3	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Asp221Gly	VAR_005332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005332	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	56	cd00112	4504975,NP_000518
3949	126073	Disease	p.Asp221Gly	VAR_005332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005332	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	47	smart00192	4504975,NP_000518
3949	126073	Disease	p.Asp221Gly	VAR_005332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005332	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	43	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Asp221Asn	VAR_007982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007982	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	56	cd00112	4504975,NP_000518
3949	126073	Disease	p.Asp221Asn	VAR_007982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007982	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	47	smart00192	4504975,NP_000518
3949	126073	Disease	p.Asp221Asn	VAR_007982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007982	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	43	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Asp221Tyr	VAR_005333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005333	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	56	cd00112	4504975,NP_000518
3949	126073	Disease	p.Asp221Tyr	VAR_005333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005333	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	47	smart00192	4504975,NP_000518
3949	126073	Disease	p.Asp221Tyr	VAR_005333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005333	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	43	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Cys222Tyr	VAR_062373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062373	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	57	cd00112	4504975,NP_000518
3949	126073	Disease	p.Cys222Tyr	VAR_062373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062373	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	48	smart00192	4504975,NP_000518
3949	126073	Disease	p.Cys222Tyr	VAR_062373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062373	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	44	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Asp224Val	VAR_005336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005336	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	66	cd00112	4504975,NP_000518
3949	126073	Disease	p.Asp224Val	VAR_005336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005336	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	57	smart00192	4504975,NP_000518
3949	126073	Disease	p.Asp224Val	VAR_005336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005336	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	51	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Asp227Glu	VAR_005338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005338	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	69	cd00112	4504975,NP_000518
3949	126073	Disease	p.Asp227Glu	VAR_005338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005338	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	60	smart00192	4504975,NP_000518
3949	126073	Disease	p.Asp227Glu	VAR_005338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005338	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	54	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Glu228Lys	VAR_005341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005341	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	70	cd00112	4504975,NP_000518
3949	126073	Disease	p.Glu228Lys	VAR_005341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005341	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	55	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Cys231Gly	VAR_005342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005342	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Cys248Tyr	VAR_005345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005345	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	40	cd00112	4504975,NP_000518
3949	126073	Disease	p.Cys248Tyr	VAR_005345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005345	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	27	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Cys248Tyr	VAR_005345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005345	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	30	smart00192	4504975,NP_000518
3949	126073	Disease	p.Gln254Pro	VAR_062374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062374	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	47	cd00112	4504975,NP_000518
3949	126073	Disease	p.Gln254Pro	VAR_062374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062374	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	34	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Gln254Pro	VAR_062374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062374	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	38	smart00192	4504975,NP_000518
3949	126073	Disease	p.Cys261Phe	VAR_013953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013953	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	57	cd00112	4504975,NP_000518
3949	126073	Disease	p.Cys261Phe	VAR_013953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013953	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	44	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Cys261Phe	VAR_013953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013953	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	48	smart00192	4504975,NP_000518
3949	126073	Disease	p.Cys276Arg	VAR_062375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062375	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	3	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Cys276Arg	VAR_062375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062375	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	2	smart00192	4504975,NP_000518
3949	126073	Disease	p.Cys276Tyr	VAR_005349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005349	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	3	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Cys276Tyr	VAR_005349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005349	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	2	smart00192	4504975,NP_000518
3949	126073	Disease	p.Glu277Lys	VAR_005350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005350	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	4	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Glu277Lys	VAR_005350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005350	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	2	cd00112	4504975,NP_000518
3949	126073	Disease	p.Glu277Lys	VAR_005350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005350	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	3	smart00192	4504975,NP_000518
3949	126073	Disease	p.Glu288Lys	VAR_007983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007983	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	21	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Glu288Lys	VAR_007983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007983	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	39	cd00112	4504975,NP_000518
3949	126073	Disease	p.Glu288Lys	VAR_007983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007983	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	27	smart00192	4504975,NP_000518
3949	126073	Disease	p.Asp301Ala	VAR_005352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005352	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	43	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Asp301Ala	VAR_005352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005352	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	56	cd00112	4504975,NP_000518
3949	126073	Disease	p.Asp301Ala	VAR_005352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005352	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	47	smart00192	4504975,NP_000518
3949	126073	Disease	p.Cys302Trp	VAR_005354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005354	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	44	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Cys302Trp	VAR_005354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005354	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	57	cd00112	4504975,NP_000518
3949	126073	Disease	p.Cys302Trp	VAR_005354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005354	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	48	smart00192	4504975,NP_000518
3949	126073	Disease	p.Cys302Tyr	VAR_005353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005353	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	44	pfam00057	4504975,NP_000518
3949	126073	Disease	p.Cys302Tyr	VAR_005353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005353	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	57	cd00112	4504975,NP_000518
3949	126073	Disease	p.Cys302Tyr	VAR_005353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005353	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	48	smart00192	4504975,NP_000518
3949	126073	Disease	p.Cys313Tyr	VAR_005358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005358	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	5	cd00054	4504975,NP_000518
3949	126073	Disease	p.Cys318Phe	VAR_005360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005360	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	25	cd00054	4504975,NP_000518
3949	126073	Disease	p.Cys318Phe	VAR_005360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005360	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	5	smart00179	4504975,NP_000518
3949	126073	Disease	p.Cys318Phe	VAR_005360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005360	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	2	smart00181	4504975,NP_000518
3949	126073	Disease	p.Cys318Phe	VAR_005360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005360	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	2	cd00053	4504975,NP_000518
3949	126073	Disease	p.Cys318Arg	VAR_062376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062376	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	25	cd00054	4504975,NP_000518
3949	126073	Disease	p.Cys318Arg	VAR_062376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062376	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	5	smart00179	4504975,NP_000518
3949	126073	Disease	p.Cys318Arg	VAR_062376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062376	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	2	smart00181	4504975,NP_000518
3949	126073	Disease	p.Cys318Arg	VAR_062376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062376	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	2	cd00053	4504975,NP_000518
3949	126073	Disease	p.His327Tyr	VAR_005361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005361	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	34	cd00054	4504975,NP_000518
3949	126073	Disease	p.His327Tyr	VAR_005361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005361	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	27	smart00179	4504975,NP_000518
3949	126073	Disease	p.His327Tyr	VAR_005361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005361	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	12	pfam00008	4504975,NP_000518
3949	126073	Disease	p.His327Tyr	VAR_005361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005361	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	19	smart00181	4504975,NP_000518
3949	126073	Disease	p.His327Tyr	VAR_005361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005361	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	26	cd00053	4504975,NP_000518
3949	126073	Disease	p.Cys329Tyr	VAR_005362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005362	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	36	cd00054	4504975,NP_000518
3949	126073	Disease	p.Cys329Tyr	VAR_005362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005362	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	34	smart00179	4504975,NP_000518
3949	126073	Disease	p.Cys329Tyr	VAR_005362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005362	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	18	pfam00008	4504975,NP_000518
3949	126073	Disease	p.Cys329Tyr	VAR_005362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005362	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	27	smart00181	4504975,NP_000518
3949	126073	Disease	p.Cys329Tyr	VAR_005362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005362	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	28	cd00053	4504975,NP_000518
3949	126073	Disease	p.Cys338Ser	VAR_005364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005364	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	53	cd00054	4504975,NP_000518
3949	126073	Disease	p.Cys338Ser	VAR_005364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005364	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	48	smart00179	4504975,NP_000518
3949	126073	Disease	p.Cys338Ser	VAR_005364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005364	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	35	pfam00008	4504975,NP_000518
3949	126073	Disease	p.Cys338Ser	VAR_005364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005364	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	50	smart00181	4504975,NP_000518
3949	126073	Disease	p.Cys338Ser	VAR_005364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005364	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	51	cd00053	4504975,NP_000518
3949	126073	Disease	p.Asp342Asn	VAR_005366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005366	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	62	cd00054	4504975,NP_000518
3949	126073	Disease	p.Asp342Asn	VAR_005366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005366	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	57	smart00179	4504975,NP_000518
3949	126073	Disease	p.Asp342Asn	VAR_005366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005366	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	39	pfam00008	4504975,NP_000518
3949	126073	Disease	p.Asp342Asn	VAR_005366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005366	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	63	smart00181	4504975,NP_000518
3949	126073	Disease	p.Asp342Asn	VAR_005366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005366	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	63	cd00053	4504975,NP_000518
3949	126073	Disease	p.Arg350Pro	VAR_005368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005368	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	87	cd00054	4504975,NP_000518
3949	126073	Disease	p.Arg350Pro	VAR_005368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005368	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	81	smart00179	4504975,NP_000518
3949	126073	Disease	p.Arg350Pro	VAR_005368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005368	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	49	pfam00008	4504975,NP_000518
3949	126073	Disease	p.Arg350Pro	VAR_005368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005368	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	80	smart00181	4504975,NP_000518
3949	126073	Disease	p.Arg350Pro	VAR_005368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005368	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	83	cd00053	4504975,NP_000518
3949	126073	Disease	p.Asp356Tyr	VAR_007984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007984	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	3	pfam07645	4504975,NP_000518
3949	126073	Disease	p.Asp356Tyr	VAR_007984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007984	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	3	cd00054	4504975,NP_000518
3949	126073	Disease	p.Asp356Tyr	VAR_007984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007984	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	3	smart00179	4504975,NP_000518
3949	126073	Disease	p.Cys358Tyr	VAR_062377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062377	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	5	pfam07645	4504975,NP_000518
3949	126073	Disease	p.Cys358Tyr	VAR_062377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062377	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	5	cd00054	4504975,NP_000518
3949	126073	Disease	p.Cys358Tyr	VAR_062377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062377	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	5	smart00179	4504975,NP_000518
3949	126073	Disease	p.Cys358Tyr	VAR_062377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062377	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	2	smart00181	4504975,NP_000518
3949	126073	Disease	p.Cys358Tyr	VAR_062377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062377	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	2	cd00053	4504975,NP_000518
3949	126073	Disease	p.Gln366Arg	VAR_007985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007985	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	21	pfam07645	4504975,NP_000518
3949	126073	Disease	p.Gln366Arg	VAR_007985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007985	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	34	cd00054	4504975,NP_000518
3949	126073	Disease	p.Gln366Arg	VAR_007985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007985	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	27	smart00179	4504975,NP_000518
3949	126073	Disease	p.Gln366Arg	VAR_007985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007985	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	19	smart00181	4504975,NP_000518
3949	126073	Disease	p.Gln366Arg	VAR_007985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007985	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	26	cd00053	4504975,NP_000518
3949	126073	Disease	p.Cys368Arg	VAR_005374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005374	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	23	pfam07645	4504975,NP_000518
3949	126073	Disease	p.Cys368Arg	VAR_005374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005374	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	36	cd00054	4504975,NP_000518
3949	126073	Disease	p.Cys368Arg	VAR_005374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005374	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	34	smart00179	4504975,NP_000518
3949	126073	Disease	p.Cys368Arg	VAR_005374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005374	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	27	smart00181	4504975,NP_000518
3949	126073	Disease	p.Cys368Arg	VAR_005374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005374	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	28	cd00053	4504975,NP_000518
3949	126073	Disease	p.Asn370Thr	VAR_062378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062378	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	25	pfam07645	4504975,NP_000518
3949	126073	Disease	p.Asn370Thr	VAR_062378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062378	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	38	cd00054	4504975,NP_000518
3949	126073	Disease	p.Asn370Thr	VAR_062378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062378	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	36	smart00179	4504975,NP_000518
3949	126073	Disease	p.Asn370Thr	VAR_062378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062378	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	29	smart00181	4504975,NP_000518
3949	126073	Disease	p.Asn370Thr	VAR_062378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062378	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	30	cd00053	4504975,NP_000518
3949	126073	Disease	p.Cys379Tyr	VAR_007986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007986	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	38	pfam07645	4504975,NP_000518
3949	126073	Disease	p.Cys379Tyr	VAR_007986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007986	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	60	cd00054	4504975,NP_000518
3949	126073	Disease	p.Cys379Tyr	VAR_007986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007986	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	55	smart00179	4504975,NP_000518
3949	126073	Disease	p.Cys379Tyr	VAR_007986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007986	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	57	smart00181	4504975,NP_000518
3949	126073	Disease	p.Cys379Tyr	VAR_007986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007986	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	58	cd00053	4504975,NP_000518
3949	126073	Disease	p.Ala399Asp	VAR_005376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005376	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Leu401Val	VAR_007987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007987	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Phe403Leu	VAR_008995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008995	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Leu414Arg	VAR_005379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005379	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Asp415Gly	VAR_062379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062379	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Arg416Gln	VAR_005380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005380	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Arg416Trp	VAR_005381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005381	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Ile423Thr	VAR_005382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005382	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Val429Met	VAR_005383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005383	rs28942078 Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Ala431Thr	VAR_005384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005384	rs28942079 Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Leu432Val	VAR_007988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007988	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Asp433His	VAR_005385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005385	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Ile451Thr	VAR_062380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062380	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	13	pfam00058	4504975,NP_000518
3949	126073	Disease	p.Leu479Pro	VAR_062381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062381	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	16	smart00135	4504975,NP_000518
3949	126073	Disease	p.Leu479Pro	VAR_062381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062381	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	53	pfam00058	4504975,NP_000518
3949	126073	Disease	p.Asp482His	VAR_005391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005391	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	19	smart00135	4504975,NP_000518
3949	126073	Disease	p.Trp483Arg	VAR_005392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005392	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	20	smart00135	4504975,NP_000518
3949	126073	Disease	p.Asn564His	VAR_005399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005399	rs28942086 Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	51	pfam00058	4504975,NP_000518
3949	126073	Disease	p.Asn564His	VAR_005399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005399	rs28942086 Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	14	smart00135	4504975,NP_000518
3949	126073	Disease	p.Asn564Ser	VAR_005400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005400	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	51	pfam00058	4504975,NP_000518
3949	126073	Disease	p.Asn564Ser	VAR_005400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005400	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	14	smart00135	4504975,NP_000518
3949	126073	Disease	p.Leu568Val	VAR_008996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008996	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	55	pfam00058	4504975,NP_000518
3949	126073	Disease	p.Leu568Val	VAR_008996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008996	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	18	smart00135	4504975,NP_000518
3949	126073	Disease	p.Asp579Asn	VAR_005402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005402	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	31	smart00135	4504975,NP_000518
3949	126073	Disease	p.Asp579Asn	VAR_005402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005402	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	7	pfam00058	4504975,NP_000518
3949	126073	Disease	p.Asp579Tyr	VAR_062382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062382	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	31	smart00135	4504975,NP_000518
3949	126073	Disease	p.Asp579Tyr	VAR_062382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062382	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	7	pfam00058	4504975,NP_000518
3949	126073	Disease	p.Gly592Glu	VAR_005403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005403	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	59	smart00135	4504975,NP_000518
3949	126073	Disease	p.Gly592Glu	VAR_005403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005403	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	25	pfam00058	4504975,NP_000518
3949	126073	Disease	p.Pro608Ser	VAR_007989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007989	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	13	smart00135	4504975,NP_000518
3949	126073	Disease	p.Pro608Ser	VAR_007989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007989	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	50	pfam00058	4504975,NP_000518
3949	126073	Disease	p.Arg633Cys	VAR_005405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005405	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	22	pfam00058	4504975,NP_000518
3949	126073	Disease	p.Arg633Cys	VAR_005405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005405	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	55	smart00135	4504975,NP_000518
3949	126073	Disease	p.Pro649Leu	VAR_005406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005406	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	50	pfam00058	4504975,NP_000518
3949	126073	Disease	p.Cys667Tyr	VAR_005407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005407	rs28942083 Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Cys677Arg	VAR_005408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005408	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Pro685Leu	VAR_005410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005410	rs28942084 Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Asp700Glu	VAR_005412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005412	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Glu714Lys	VAR_008997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008997	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Val797Met	VAR_005415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005415	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Pro826Ser	VAR_062383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062383	- Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
3949	126073	Disease	p.Tyr828Cys	VAR_005419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005419	rs28942085 Familial hypercholesterolemia (FH) [MIM:143890]	SWISS	No Domain	N/A	4504975,NP_000518
26119	116241254	Disease	p.Ser202His	VAR_023320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023320	- Autosomal recessive hypercholesterolemia (ARH) [MIM:603813]	SWISS	No Domain	N/A	132626790,NP_056442
3955	27734417	Disease	p.Phe188Leu	VAR_025850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025850	- Spondylocostal dysostosis type 3 (SCDO3) [MIM:609813]	SWISS	96	pfam02434	93140999,NP_001035257
9211	32469669	Disease	p.Leu26Arg	VAR_015771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015771	- Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	No Domain	N/A	4826816,NP_005088
9211	32469669	Disease	p.Cys42Gly	VAR_023008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023008	- Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	No Domain	N/A	4826816,NP_005088
9211	32469669	Disease	p.Cys42Arg	VAR_058538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058538	- Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	No Domain	N/A	4826816,NP_005088
9211	32469669	Disease	p.Cys46Arg	VAR_015772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015772	- Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	No Domain	N/A	4826816,NP_005088
9211	32469669	Disease	p.Ala110Asp	VAR_058539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058539	- Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	No Domain	N/A	4826816,NP_005088
9211	32469669	Disease	p.Ile122Lys	VAR_058540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058540	- Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	10	smart00370	4826816,NP_005088
9211	32469669	Disease	p.Ile122Lys	VAR_058540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058540	- Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	10	smart00369	4826816,NP_005088
9211	32469669	Disease	p.Glu123Lys	VAR_058541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058541	- Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	11	smart00370	4826816,NP_005088
9211	32469669	Disease	p.Glu123Lys	VAR_058541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058541	- Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	11	smart00369	4826816,NP_005088
9211	32469669	Disease	p.Arg136Trp	VAR_058542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058542	- Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	28	smart00370	4826816,NP_005088
9211	32469669	Disease	p.Arg136Trp	VAR_058542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058542	- Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	28	smart00369	4826816,NP_005088
9211	32469669	Disease	p.Ser145Arg	VAR_058543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058543	- Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	9	smart00370	4826816,NP_005088
9211	32469669	Disease	p.Ser145Arg	VAR_058543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058543	- Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	9	smart00369	4826816,NP_005088
9211	32469669	Disease	p.Leu154Pro	VAR_058544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058544	- Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	20	smart00370	4826816,NP_005088
9211	32469669	Disease	p.Leu154Pro	VAR_058544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058544	- Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	20	smart00369	4826816,NP_005088
9211	32469669	Disease	p.Cys200Arg	VAR_058545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058545	- Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	46	smart00082	4826816,NP_005088
9211	32469669	Disease	p.Leu232Pro	VAR_058546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058546	- Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	9	pfam03736	4826816,NP_005088
9211	32469669	Disease	p.Ile298Thr	VAR_058547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058547	- Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	33	pfam03736	4826816,NP_005088
9211	32469669	Disease	p.Phe318Cys	VAR_015774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015774	rs28939075 Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	3	pfam03736	4826816,NP_005088
9211	32469669	Disease	p.Glu383Ala	VAR_015773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015773	rs28937874 Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	21	pfam03736	4826816,NP_005088
9211	32469669	Disease	p.Val432Glu	VAR_058548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058548	- Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	17	pfam03736	4826816,NP_005088
9211	32469669	Disease	p.Ser473Leu	VAR_023009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023009	- Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]	SWISS	14	pfam03736	4826816,NP_005088
3972	1170834	Disease	p.Gln74Arg	VAR_003189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003189	rs5030773 Hypogonadism [MIM:152780]	SWISS	56	smart00068	4504989,NP_000885
3972	1170834	Disease	p.Gln74Arg	VAR_003189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003189	rs5030773 Hypogonadism [MIM:152780]	SWISS	54	pfam00007	4504989,NP_000885
3972	1170834	Disease	p.Gln74Arg	VAR_003189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003189	rs5030773 Hypogonadism [MIM:152780]	SWISS	48	cd00069	4504989,NP_000885
3973	281185513	Disease	p.Cys131Arg	VAR_010154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010154	- Luteinizing hormone resistance (LHR) [MIM:238320]	SWISS	No Domain	N/A	106067657,NP_000224
3973	281185513	Disease	p.Val144Phe	VAR_062336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062336	- Luteinizing hormone resistance (LHR) [MIM:238320]	SWISS	No Domain	N/A	106067657,NP_000224
3973	281185513	Disease	p.Ile152Thr	VAR_062337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062337	- Luteinizing hormone resistance (LHR) [MIM:238320]	SWISS	No Domain	N/A	106067657,NP_000224
3973	281185513	Disease	p.Cys343Ser	VAR_010155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010155	- Luteinizing hormone resistance (LHR) [MIM:238320]	SWISS	No Domain	N/A	106067657,NP_000224
3973	281185513	Disease	p.Glu354Lys	VAR_003552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003552	- Luteinizing hormone resistance (LHR) [MIM:238320]	SWISS	No Domain	N/A	106067657,NP_000224
3973	281185513	Disease	p.Leu368Pro	VAR_062338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062338	- Familial male precocious puberty (FMPP) [MIM:176410]	SWISS	No Domain	N/A	106067657,NP_000224
3973	281185513	Disease	p.Ala373Val	VAR_003553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003553	- Familial male precocious puberty (FMPP) [MIM:176410]	SWISS	No Domain	N/A	106067657,NP_000224
3973	281185513	Disease	p.Met398Thr	VAR_003554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003554	- Familial male precocious puberty (FMPP) [MIM:176410]	SWISS	21	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Leu457Arg	VAR_010156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010156	- Familial male precocious puberty (FMPP) [MIM:176410]	SWISS	85	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Leu502Pro	VAR_062339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062339	- Luteinizing hormone resistance (LHR) [MIM:238320]	SWISS	132	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Ile542Leu	VAR_010157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010157	- Familial male precocious puberty (FMPP) [MIM:176410]	SWISS	197	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Cys543Arg	VAR_010158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010158	- Luteinizing hormone resistance (LHR) [MIM:238320]	SWISS	198	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Asp564Gly	VAR_010159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010159	- Familial male precocious puberty (FMPP) [MIM:176410]	SWISS	361	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Ala568Val	VAR_003555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003555	- Familial male precocious puberty (FMPP) [MIM:176410]	SWISS	365	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Met571Ile	VAR_003556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003556	- Familial male precocious puberty (FMPP) [MIM:176410]	SWISS	368	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Ala572Val	VAR_003557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003557	- Familial male precocious puberty (FMPP) [MIM:176410]	SWISS	369	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Ile575Leu	VAR_010160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010160	- Familial male precocious puberty (FMPP) [MIM:176410]	SWISS	372	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Thr577Ile	VAR_003558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003558	- Familial male precocious puberty (FMPP) [MIM:176410]	SWISS	374	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Asp578Glu	VAR_010161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010161	- Familial male precocious puberty (FMPP) [MIM:176410]	SWISS	375	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Asp578Gly	VAR_003559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003559	- Familial male precocious puberty (FMPP) [MIM:176410]	SWISS	375	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Asp578Tyr	VAR_010163	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010163	- Familial male precocious puberty (FMPP) [MIM:176410]	SWISS	375	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Cys581Arg	VAR_010164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010164	- Familial male precocious puberty (FMPP) [MIM:176410]	SWISS	378	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Ala593Pro	VAR_003560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003560	- Luteinizing hormone resistance (LHR) [MIM:238320]	SWISS	390	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Ser616Tyr	VAR_003562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003562	- Luteinizing hormone resistance (LHR) [MIM:238320]	SWISS	423	pfam00001	106067657,NP_000224
3973	281185513	Disease	p.Ile625Lys	VAR_003563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003563	- Luteinizing hormone resistance (LHR) [MIM:238320]	SWISS	No Domain	N/A	106067657,NP_000224
222662	74751349	Disease	p.Tyr127Cys	VAR_032055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032055	- Deafness autosomal recessive type 67 (DFNB67) [MIM:610265]	SWISS	139	pfam10242	32698930,NP_872354
222662	74751349	Disease	p.Thr165Met	VAR_032056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032056	- Deafness autosomal recessive type 67 (DFNB67) [MIM:610265]	SWISS	177	pfam10242	32698930,NP_872354
222662	74751349	Disease	p.Arg176Leu	VAR_032057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032057	- Deafness autosomal recessive type 67 (DFNB67) [MIM:610265]	SWISS	188	pfam10242	32698930,NP_872354
8022	12643415	Disease	p.Tyr111Cys	VAR_010713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010713	- Pituitary hormone deficiency combined type 3 (CPHD3) [MIM:221750]	SWISS	26	pfam00412	30023847,NP_835258
8022	12643415	Disease	p.Tyr111Cys	VAR_010713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010713	- Pituitary hormone deficiency combined type 3 (CPHD3) [MIM:221750]	SWISS	33	smart00132	30023847,NP_835258
8022	12643415	Disease	p.Tyr111Cys	VAR_010713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010713	- Pituitary hormone deficiency combined type 3 (CPHD3) [MIM:221750]	SWISS	7	COG5576	30023847,NP_835258
8022	12643415	Disease	p.Ala210Val	VAR_063240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063240	- Pituitary hormone deficiency combined type 3 (CPHD3) [MIM:221750]	SWISS	93	smart00389	30023847,NP_835258
8022	12643415	Disease	p.Ala210Val	VAR_063240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063240	- Pituitary hormone deficiency combined type 3 (CPHD3) [MIM:221750]	SWISS	63	pfam00046	30023847,NP_835258
8022	12643415	Disease	p.Ala210Val	VAR_063240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063240	- Pituitary hormone deficiency combined type 3 (CPHD3) [MIM:221750]	SWISS	85	cd00086	30023847,NP_835258
8022	12643415	Disease	p.Ala210Val	VAR_063240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063240	- Pituitary hormone deficiency combined type 3 (CPHD3) [MIM:221750]	SWISS	106	COG5576	30023847,NP_835258
89884	209572644	Disease	p.Arg84Cys	VAR_058715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058715	- Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700]	SWISS	70	pfam00412	15375314,NP_203129
89884	209572644	Disease	p.Leu190Arg	VAR_058716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058716	- Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700]	SWISS	84	COG5576	15375314,NP_203129
89884	209572644	Disease	p.Leu190Arg	VAR_058716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058716	- Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700]	SWISS	52	smart00389	15375314,NP_203129
89884	209572644	Disease	p.Leu190Arg	VAR_058716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058716	- Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700]	SWISS	38	pfam00046	15375314,NP_203129
89884	209572644	Disease	p.Leu190Arg	VAR_058716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058716	- Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700]	SWISS	44	cd00086	15375314,NP_203129
89884	209572644	Disease	p.Ala210Pro	VAR_058717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058717	- Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700]	SWISS	106	COG5576	15375314,NP_203129
89884	209572644	Disease	p.Ala210Pro	VAR_058717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058717	- Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700]	SWISS	93	smart00389	15375314,NP_203129
89884	209572644	Disease	p.Ala210Pro	VAR_058717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058717	- Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700]	SWISS	63	pfam00046	15375314,NP_203129
89884	209572644	Disease	p.Ala210Pro	VAR_058717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058717	- Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700]	SWISS	85	cd00086	15375314,NP_203129
89884	209572644	Disease	p.Pro389Thr	VAR_063241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063241	- Pituitary hormone deficiency combined type 4 (CPHD4) [MIM:262700]	SWISS	No Domain	N/A	15375314,NP_203129
3977	1170784	Disease	p.Ser279Pro	VAR_025666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025666	- Stueve-Wiedemann syndrome (SWS) [MIM:601559]	SWISS	No Domain	N/A	189083786,NP_001121143|4504993,NP_002301
3981	88911290	Disease	p.Arg278His	VAR_012774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012774	- LIG4 syndrome [MIM:606593]	SWISS	52	cd07900	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	VAR_012774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012774	- LIG4 syndrome [MIM:606593]	SWISS	238	COG1793	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	VAR_012774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012774	- LIG4 syndrome [MIM:606593]	SWISS	69	cd07903	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	VAR_012774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012774	- LIG4 syndrome [MIM:606593]	SWISS	47	cd07898	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	VAR_012774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012774	- LIG4 syndrome [MIM:606593]	SWISS	38	cd07906	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	VAR_012774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012774	- LIG4 syndrome [MIM:606593]	SWISS	41	cd07896	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	VAR_012774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012774	- LIG4 syndrome [MIM:606593]	SWISS	35	cd06846	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	VAR_012774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012774	- LIG4 syndrome [MIM:606593]	SWISS	66	cd07907	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	VAR_012774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012774	- LIG4 syndrome [MIM:606593]	SWISS	46	cd07902	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	VAR_012774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012774	- LIG4 syndrome [MIM:606593]	SWISS	39	cd08039	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	VAR_012774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012774	- LIG4 syndrome [MIM:606593]	SWISS	52	pfam01068	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Arg278His	VAR_012774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012774	- LIG4 syndrome [MIM:606593]	SWISS	54	cd07901	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	VAR_012775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012775	- LIG4 syndrome [MIM:606593]	SWISS	10	cd07893	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	VAR_012775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012775	- LIG4 syndrome [MIM:606593]	SWISS	10	cd07972	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	VAR_012775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012775	- LIG4 syndrome [MIM:606593]	SWISS	478	COG1793	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	VAR_012775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012775	- LIG4 syndrome [MIM:606593]	SWISS	11	cd07969	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	VAR_012775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012775	- LIG4 syndrome [MIM:606593]	SWISS	11	cd07968	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3981	88911290	Disease	p.Gly469Glu	VAR_012775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012775	- LIG4 syndrome [MIM:606593]	SWISS	12	cd07967	148539894,NP_001091738|46255052,NP_996820|23199993,NP_002303
3988	68067636	Disease	p.His129Pro	VAR_004248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004248	- Cholesteryl ester storage disease (CESD) [MIM:278000]	SWISS	150	COG0596	51317399,NP_000226|189083851,NP_001121077
3988	68067636	Disease	p.His129Pro	VAR_004248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004248	- Cholesteryl ester storage disease (CESD) [MIM:278000]	SWISS	18	pfam00561	51317399,NP_000226|189083851,NP_001121077
3988	68067636	Disease	p.His129Arg	VAR_004249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004249	- Cholesteryl ester storage disease (CESD) [MIM:278000]	SWISS	150	COG0596	51317399,NP_000226|189083851,NP_001121077
3988	68067636	Disease	p.His129Arg	VAR_004249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004249	- Cholesteryl ester storage disease (CESD) [MIM:278000]	SWISS	18	pfam00561	51317399,NP_000226|189083851,NP_001121077
3988	68067636	Disease	p.Leu200Pro	VAR_004250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004250	- Cholesteryl ester storage disease (CESD) [MIM:278000]	SWISS	289	COG0596	51317399,NP_000226|189083851,NP_001121077
3988	68067636	Disease	p.Leu200Pro	VAR_004250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004250	- Cholesteryl ester storage disease (CESD) [MIM:278000]	SWISS	131	pfam00561	51317399,NP_000226|189083851,NP_001121077
3988	68067636	Disease	p.Leu200Pro	VAR_004250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004250	- Wolman disease (WOD) [MIM:278000]	SWISS	289	COG0596	51317399,NP_000226|189083851,NP_001121077
3988	68067636	Disease	p.Leu200Pro	VAR_004250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004250	- Wolman disease (WOD) [MIM:278000]	SWISS	131	pfam00561	51317399,NP_000226|189083851,NP_001121077
3990	126308	Disease	p.Ser289Phe	VAR_004209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004209	- Hepatic lipase deficiency (HL deficiency) [MIM:151670]	SWISS	310	pfam00151	NULL
3990	126308	Disease	p.Ser289Phe	VAR_004209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004209	- Hepatic lipase deficiency (HL deficiency) [MIM:151670]	SWISS	297	cd00707	NULL
3990	126308	Disease	p.Thr405Met	VAR_004210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004210	rs28933094 Hepatic lipase deficiency (HL deficiency) [MIM:151670]	SWISS	60	cd01755	NULL
3990	126308	Disease	p.Thr405Met	VAR_004210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004210	rs28933094 Hepatic lipase deficiency (HL deficiency) [MIM:151670]	SWISS	64	pfam01477	NULL
3990	126308	Disease	p.Thr405Met	VAR_004210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004210	rs28933094 Hepatic lipase deficiency (HL deficiency) [MIM:151670]	SWISS	55	cd01758	NULL
3990	126308	Disease	p.Thr405Met	VAR_004210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004210	rs28933094 Hepatic lipase deficiency (HL deficiency) [MIM:151670]	SWISS	152	smart00308	NULL
3990	126308	Disease	p.Thr405Met	VAR_004210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004210	rs28933094 Hepatic lipase deficiency (HL deficiency) [MIM:151670]	SWISS	83	cd00113	NULL
200879	74762634	Disease	p.Trp108Arg	VAR_059050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059050	- Hypotrichosis localized autosomal recessive type 2 (LAH2) [MIM:604379]	SWISS	96	cd00707	21245106,NP_640341
200879	74762634	Disease	p.Trp108Arg	VAR_059050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059050	- Hypotrichosis localized autosomal recessive type 2 (LAH2) [MIM:604379]	SWISS	138	pfam00151	21245106,NP_640341
200879	74762634	Disease	p.Trp108Arg	VAR_059050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059050	- Woolly hair autosomal recessive type 2 (ARWH2) [MIM:604379]	SWISS	96	cd00707	21245106,NP_640341
200879	74762634	Disease	p.Trp108Arg	VAR_059050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059050	- Woolly hair autosomal recessive type 2 (ARWH2) [MIM:604379]	SWISS	138	pfam00151	21245106,NP_640341
9516	83304387	Disease	p.Thr49Met	VAR_024015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024015	- Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098]	SWISS	No Domain	N/A	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Gly112Ser	VAR_024017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024017	- Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098]	SWISS	26	pfam10601	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Gly112Ser	VAR_024017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024017	- Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098]	SWISS	28	smart00714	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Thr115Asn	VAR_024018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024018	- Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098]	SWISS	29	pfam10601	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Thr115Asn	VAR_024018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024018	- Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098]	SWISS	31	smart00714	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Trp116Gly	VAR_024019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024019	- Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098]	SWISS	30	pfam10601	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Trp116Gly	VAR_024019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024019	- Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098]	SWISS	32	smart00714	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Leu122Val	VAR_024020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024020	- Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098]	SWISS	50	pfam10601	210147505,NP_001129944|65787265,NP_004853
9516	83304387	Disease	p.Leu122Val	VAR_024020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024020	- Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098]	SWISS	40	smart00714	210147505,NP_001129944|65787265,NP_004853
4000	125962	Disease	p.Arg25Gly	VAR_039746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039746	rs58327533 Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	No Domain	N/A	27436946,NP_733821
4000	125962	Disease	p.Arg25Pro	VAR_039747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039747	rs61578124 Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	No Domain	N/A	27436946,NP_733821
4000	125962	Disease	p.Arg28Trp	VAR_039748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039748	rs59914820 Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]	SWISS	No Domain	N/A	27436946,NP_733821
4000	125962	Disease	p.Glu33Gly	VAR_039751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039751	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	4	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Leu35Val	VAR_039752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039752	rs56694480 Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	6	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Asn39Ser	VAR_063588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063588	- Congenital muscular dystrophy LMNA-related (CMD-LMNA) [MIM:613205]	SWISS	10	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Ala43Thr	VAR_039753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039753	rs60446065 Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	14	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Tyr45Cys	VAR_009971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009971	rs58436778 Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	16	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg50Pro	VAR_009972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009972	rs60695352 Congenital muscular dystrophy LMNA-related (CMD-LMNA) [MIM:613205]	SWISS	21	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg50Pro	VAR_009972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009972	rs60695352 Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	21	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg50Ser	VAR_039754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039754	rs59931416 Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	21	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Ala57Pro	VAR_017656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017656	rs28928903 Werner syndrome (WRN) [MIM:277700]	SWISS	28	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg60Gly	VAR_034706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034706	rs28928900 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]	SWISS	31	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg60Gly	VAR_034706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034706	rs28928900 Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]	SWISS	31	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg62Gly	VAR_039755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039755	rs56793579 Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]	SWISS	33	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Ile63Asn	VAR_039756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039756	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	34	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Ile63Ser	VAR_009974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009974	rs57793737 Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	34	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Glu65Gly	VAR_039757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039757	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	36	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Leu85Arg	VAR_009975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009975	rs28933090 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]	SWISS	63	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg89Leu	VAR_039758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039758	rs59040894 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]	SWISS	67	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Lys97Glu	VAR_039759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039759	rs59065411 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]	SWISS	75	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg133Leu	VAR_016913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016913	- Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]	SWISS	111	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg133Pro	VAR_017657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017657	rs60864230 Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	111	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Leu140Pro	VAR_039760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039760	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	118	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Leu140Arg	VAR_017658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017658	rs60652225 Werner syndrome (WRN) [MIM:277700]	SWISS	118	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Ser143Phe	VAR_034707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034707	rs58912633 Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]	SWISS	121	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Ser143Pro	VAR_039761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039761	rs61661343 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]	SWISS	121	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Glu145Lys	VAR_017659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017659	rs60310264 Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]	SWISS	123	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Thr150Pro	VAR_039762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039762	rs58917027 Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	128	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Glu161Lys	VAR_017660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017660	rs28933093 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]	SWISS	139	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg190Gln	VAR_039763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039763	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	168	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg190Trp	VAR_039764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039764	rs59026483 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]	SWISS	168	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Asp192Gly	VAR_039765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039765	rs57045855 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]	SWISS	170	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Asn195Lys	VAR_009977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009977	rs28933091 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]	SWISS	173	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Glu203Gly	VAR_009978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009978	rs28933092 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]	SWISS	181	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Glu203Lys	VAR_039767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039767	rs61195471 Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]	SWISS	181	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Leu215Pro	VAR_039768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039768	- Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]	SWISS	193	pfam00038	27436946,NP_733821
4000	125962	Disease	p.His222Pro	VAR_039769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039769	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	204	pfam00038	27436946,NP_733821
4000	125962	Disease	p.His222Tyr	VAR_009979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009979	rs28928901 Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	204	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Asp230Asn	VAR_039770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039770	- Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]	SWISS	219	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Gly232Glu	VAR_039771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039771	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	222	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Leu248Pro	VAR_039772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039772	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	238	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg249Gln	VAR_009980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009980	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	239	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg249Trp	VAR_063589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063589	- Congenital muscular dystrophy LMNA-related (CMD-LMNA) [MIM:613205]	SWISS	239	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Tyr267Cys	VAR_039774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039774	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	257	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Gln294Pro	VAR_009982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009982	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	284	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg298Cys	VAR_017661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017661	- Charcot-Marie-Tooth disease type 2B1 (CMT2B1) [MIM:605588]	SWISS	288	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Leu302Pro	VAR_063590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063590	- Congenital muscular dystrophy LMNA-related (CMD-LMNA) [MIM:613205]	SWISS	295	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Glu317Lys	VAR_039775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039775	- Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]	SWISS	314	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg336Gln	VAR_009983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009983	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	333	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg343Gln	VAR_009984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009984	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	340	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg349Leu	VAR_039776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039776	- Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]	SWISS	346	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Glu358Lys	VAR_009985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009985	- Congenital muscular dystrophy LMNA-related (CMD-LMNA) [MIM:613205]	SWISS	355	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Glu358Lys	VAR_009985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009985	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	355	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Met371Lys	VAR_009986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009986	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	368	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg377His	VAR_016205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016205	- Limb-girdle muscular dystrophy type 1B (LGMD1B) [MIM:159001]	SWISS	374	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg377Leu	VAR_039777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039777	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	374	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg377Leu	VAR_039777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039777	- Limb-girdle muscular dystrophy type 1B (LGMD1B) [MIM:159001]	SWISS	374	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Leu380Ser	VAR_063591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063591	- Congenital muscular dystrophy LMNA-related (CMD-LMNA) [MIM:613205]	SWISS	377	pfam00038	27436946,NP_733821
4000	125962	Disease	p.Arg386Lys	VAR_009987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009987	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	No Domain	N/A	27436946,NP_733821
4000	125962	Disease	p.Arg399Cys	VAR_039778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039778	- Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]	SWISS	No Domain	N/A	27436946,NP_733821
4000	125962	Disease	p.Arg435Cys	VAR_039779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039779	- Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]	SWISS	4	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Asp446Val	VAR_039780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039780	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	16	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Arg453Pro	VAR_063592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063592	- Congenital muscular dystrophy LMNA-related (CMD-LMNA) [MIM:613205]	SWISS	23	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Arg453Trp	VAR_009988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009988	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	23	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Arg455Pro	VAR_063593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063593	- Congenital muscular dystrophy LMNA-related (CMD-LMNA) [MIM:613205]	SWISS	25	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Asn456Asp	VAR_063594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063594	- Congenital muscular dystrophy LMNA-related (CMD-LMNA) [MIM:613205]	SWISS	26	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Asn456Ile	VAR_039781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039781	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	26	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Asn456Lys	VAR_039782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039782	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	26	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Gly465Asp	VAR_009989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009989	- Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]	SWISS	60	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Ile469Thr	VAR_009990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009990	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	64	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Arg471Cys	VAR_017662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017662	rs28928902 Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]	SWISS	67	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Tyr481His	VAR_039783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039783	- Limb-girdle muscular dystrophy type 1B (LGMD1B) [MIM:159001]	SWISS	82	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Arg482Leu	VAR_009991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009991	- Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]	SWISS	83	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Arg482Gln	VAR_009992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009992	rs11575937 Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]	SWISS	83	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Arg482Trp	VAR_009993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009993	- Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]	SWISS	83	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Lys486Asn	VAR_009994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009994	- Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]	SWISS	87	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Trp520Ser	VAR_039784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039784	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	132	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Arg527Cys	VAR_017663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017663	- Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]	SWISS	140	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Arg527His	VAR_018727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018727	- Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]	SWISS	140	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Arg527Pro	VAR_009995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009995	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	140	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Arg527Pro	VAR_009995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009995	- Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]	SWISS	140	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Thr528Lys	VAR_009996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009996	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	141	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Thr528Arg	VAR_039785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039785	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	141	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Ala529Val	VAR_034709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034709	- Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]	SWISS	142	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Leu530Pro	VAR_009997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009997	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	143	pfam00932	27436946,NP_733821
4000	125962	Disease	p.Arg541His	VAR_039787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039787	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	No Domain	N/A	27436946,NP_733821
4000	125962	Disease	p.Arg541Ser	VAR_039788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039788	- Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]	SWISS	No Domain	N/A	27436946,NP_733821
4000	125962	Disease	p.Lys542Asn	VAR_034710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034710	- Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]	SWISS	No Domain	N/A	27436946,NP_733821
4000	125962	Disease	p.Ser573Leu	VAR_039789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039789	- Cardiomyopathy dilated type 1A (CMD1A) [MIM:115200]	SWISS	No Domain	N/A	27436946,NP_733821
4000	125962	Disease	p.Ser573Leu	VAR_039789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039789	- Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]	SWISS	No Domain	N/A	27436946,NP_733821
4000	125962	Disease	p.Ser573Leu	VAR_039789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039789	- Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]	SWISS	No Domain	N/A	27436946,NP_733821
4000	125962	Disease	p.Arg582His	VAR_009998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009998	- Familial partial lipodystrophy type 2 (FPLD2) [MIM:151660]	SWISS	No Domain	N/A	27436946,NP_733821
4000	125962	Disease	p.Gly608Ser	VAR_017664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017664	- Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]	SWISS	No Domain	N/A	27436946,NP_733821
4000	125962	Disease	p.Arg624His	VAR_039791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039791	- Emery-Dreifuss muscular dystrophy type 2 (EDMD2) [MIM:181350]	SWISS	No Domain	N/A	27436946,NP_733821
84823	23503078	Disease	p.Arg215Gln	VAR_031063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031063	rs61726481 Barraquer-Simons syndrome (BaSiS) [MIM:608709]	SWISS	198	pfam00038	27436951,NP_116126
84823	23503078	Disease	p.Ala407Thr	VAR_031064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031064	rs57521499 Barraquer-Simons syndrome (BaSiS) [MIM:608709]	SWISS	No Domain	N/A	27436951,NP_116126
4010	8247930	Disease	p.Cys36Arg	VAR_015201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015201	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	5	smart00132	NULL
4010	8247930	Disease	p.Cys36Arg	VAR_015201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015201	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	4	pfam00412	NULL
4010	8247930	Disease	p.Cys36Ser	VAR_015202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015202	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	5	smart00132	NULL
4010	8247930	Disease	p.Cys36Ser	VAR_015202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015202	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	4	pfam00412	NULL
4010	8247930	Disease	p.His54Asn	VAR_015190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015190	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	34	smart00132	NULL
4010	8247930	Disease	p.His54Asn	VAR_015190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015190	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	27	pfam00412	NULL
4010	8247930	Disease	p.His54Gln	VAR_015203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015203	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	34	smart00132	NULL
4010	8247930	Disease	p.His54Gln	VAR_015203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015203	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	27	pfam00412	NULL
4010	8247930	Disease	p.His54Tyr	VAR_015204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015204	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	34	smart00132	NULL
4010	8247930	Disease	p.His54Tyr	VAR_015204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015204	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	27	pfam00412	NULL
4010	8247930	Disease	p.Cys57Arg	VAR_015205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015205	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	39	smart00132	NULL
4010	8247930	Disease	p.Cys57Arg	VAR_015205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015205	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	30	pfam00412	NULL
4010	8247930	Disease	p.Leu58Trp	VAR_015191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015191	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	40	smart00132	NULL
4010	8247930	Disease	p.Leu58Trp	VAR_015191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015191	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	31	pfam00412	NULL
4010	8247930	Disease	p.Cys60Phe	VAR_015192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015192	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	42	smart00132	NULL
4010	8247930	Disease	p.Cys60Phe	VAR_015192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015192	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	33	pfam00412	NULL
4010	8247930	Disease	p.Cys60Gly	VAR_015206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015206	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	42	smart00132	NULL
4010	8247930	Disease	p.Cys60Gly	VAR_015206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015206	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	33	pfam00412	NULL
4010	8247930	Disease	p.Cys60Trp	VAR_015193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015193	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	42	smart00132	NULL
4010	8247930	Disease	p.Cys60Trp	VAR_015193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015193	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	33	pfam00412	NULL
4010	8247930	Disease	p.Cys60Tyr	VAR_015207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015207	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	42	smart00132	NULL
4010	8247930	Disease	p.Cys60Tyr	VAR_015207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015207	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	33	pfam00412	NULL
4010	8247930	Disease	p.Cys63Arg	VAR_015208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015208	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	45	smart00132	NULL
4010	8247930	Disease	p.Cys63Arg	VAR_015208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015208	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	36	pfam00412	NULL
4010	8247930	Disease	p.Cys80Trp	VAR_015194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015194	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	62	pfam00412	NULL
4010	8247930	Disease	p.Asp83Gly	VAR_015209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015209	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	66	pfam00412	NULL
4010	8247930	Disease	p.Cys95Phe	VAR_004198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004198	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	4	pfam00412	NULL
4010	8247930	Disease	p.Cys95Phe	VAR_004198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004198	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	5	smart00132	NULL
4010	8247930	Disease	p.Cys95Tyr	VAR_015195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015195	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	4	pfam00412	NULL
4010	8247930	Disease	p.Cys95Tyr	VAR_015195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015195	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	5	smart00132	NULL
4010	8247930	Disease	p.His114Tyr	VAR_015196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015196	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	27	pfam00412	NULL
4010	8247930	Disease	p.His114Tyr	VAR_015196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015196	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	34	smart00132	NULL
4010	8247930	Disease	p.Cys117Tyr	VAR_015197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015197	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	30	pfam00412	NULL
4010	8247930	Disease	p.Cys117Tyr	VAR_015197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015197	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	39	smart00132	NULL
4010	8247930	Disease	p.Cys120Ser	VAR_015210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015210	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	33	pfam00412	NULL
4010	8247930	Disease	p.Cys120Ser	VAR_015210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015210	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	42	smart00132	NULL
4010	8247930	Disease	p.Cys123Phe	VAR_015211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015211	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	36	pfam00412	NULL
4010	8247930	Disease	p.Cys123Phe	VAR_015211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015211	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	45	smart00132	NULL
4010	8247930	Disease	p.Cys123Tyr	VAR_015212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015212	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	36	pfam00412	NULL
4010	8247930	Disease	p.Cys123Tyr	VAR_015212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015212	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	45	smart00132	NULL
4010	8247930	Disease	p.Cys142Trp	VAR_004199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004199	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	62	pfam00412	NULL
4010	8247930	Disease	p.Arg200Gln	VAR_004200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004200	rs28939692 Nail-patella syndrome (NPS) [MIM:161200]	SWISS	4	smart00389	NULL
4010	8247930	Disease	p.Arg200Gln	VAR_004200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004200	rs28939692 Nail-patella syndrome (NPS) [MIM:161200]	SWISS	4	pfam00046	NULL
4010	8247930	Disease	p.Arg200Gln	VAR_004200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004200	rs28939692 Nail-patella syndrome (NPS) [MIM:161200]	SWISS	4	cd00086	NULL
4010	8247930	Disease	p.Arg200Gln	VAR_004200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004200	rs28939692 Nail-patella syndrome (NPS) [MIM:161200]	SWISS	55	COG5576	NULL
4010	8247930	Disease	p.Ala213Pro	VAR_004201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004201	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	22	smart00389	NULL
4010	8247930	Disease	p.Ala213Pro	VAR_004201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004201	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	17	pfam00046	NULL
4010	8247930	Disease	p.Ala213Pro	VAR_004201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004201	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	17	cd00086	NULL
4010	8247930	Disease	p.Ala213Pro	VAR_004201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004201	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	68	COG5576	NULL
4010	8247930	Disease	p.Ser218Pro	VAR_004202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004202	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	30	smart00389	NULL
4010	8247930	Disease	p.Ser218Pro	VAR_004202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004202	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	27	pfam00046	NULL
4010	8247930	Disease	p.Ser218Pro	VAR_004202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004202	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	33	cd00086	NULL
4010	8247930	Disease	p.Ser218Pro	VAR_004202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004202	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	73	COG5576	NULL
4010	8247930	Disease	p.Arg226Pro	VAR_004203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004203	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	49	smart00389	NULL
4010	8247930	Disease	p.Arg226Pro	VAR_004203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004203	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	35	pfam00046	NULL
4010	8247930	Disease	p.Arg226Pro	VAR_004203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004203	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	41	cd00086	NULL
4010	8247930	Disease	p.Arg226Pro	VAR_004203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004203	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	81	COG5576	NULL
4010	8247930	Disease	p.Leu229Pro	VAR_015213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015213	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	52	smart00389	NULL
4010	8247930	Disease	p.Leu229Pro	VAR_015213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015213	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	38	pfam00046	NULL
4010	8247930	Disease	p.Leu229Pro	VAR_015213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015213	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	44	cd00086	NULL
4010	8247930	Disease	p.Leu229Pro	VAR_015213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015213	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	84	COG5576	NULL
4010	8247930	Disease	p.Ala230Val	VAR_004204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004204	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	53	smart00389	NULL
4010	8247930	Disease	p.Ala230Val	VAR_004204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004204	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	39	pfam00046	NULL
4010	8247930	Disease	p.Ala230Val	VAR_004204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004204	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	45	cd00086	NULL
4010	8247930	Disease	p.Ala230Val	VAR_004204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004204	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	85	COG5576	NULL
4010	8247930	Disease	p.Trp243Cys	VAR_015198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015198	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	87	smart00389	NULL
4010	8247930	Disease	p.Trp243Cys	VAR_015198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015198	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	57	pfam00046	NULL
4010	8247930	Disease	p.Trp243Cys	VAR_015198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015198	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	79	cd00086	NULL
4010	8247930	Disease	p.Trp243Cys	VAR_015198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015198	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	100	COG5576	NULL
4010	8247930	Disease	p.Asn246Lys	VAR_004205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004205	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	90	smart00389	NULL
4010	8247930	Disease	p.Asn246Lys	VAR_004205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004205	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	60	pfam00046	NULL
4010	8247930	Disease	p.Asn246Lys	VAR_004205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004205	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	82	cd00086	NULL
4010	8247930	Disease	p.Asn246Lys	VAR_004205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004205	- Nail-patella syndrome (NPS) [MIM:161200]	SWISS	103	COG5576	NULL
10161	34223726	Disease	p.Asp63Val	VAR_044326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044326	- Woolly hair autosomal recessive type 1 (ARWH1) [MIM:278150]	SWISS	28	pfam00001	241982708,NP_001155970|241982706,NP_001155969|33695113,NP_005758
10161	34223726	Disease	p.Ile188Phe	VAR_044327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044327	- Woolly hair autosomal recessive type 1 (ARWH1) [MIM:278150]	SWISS	184	pfam00001	241982708,NP_001155970|241982706,NP_001155969|33695113,NP_005758
10161	34223726	Disease	p.Glu189Lys	VAR_044328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044328	- Woolly hair autosomal recessive type 1 (ARWH1) [MIM:278150]	SWISS	185	pfam00001	241982708,NP_001155970|241982706,NP_001155969|33695113,NP_005758
9663	2495724	Disease	p.Ser734Leu	VAR_023817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023817	- Majeed syndrome (MAJEEDS) [MIM:609628]	SWISS	60	smart00775	7662022,NP_055461
9663	2495724	Disease	p.Ser734Leu	VAR_023817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023817	- Majeed syndrome (MAJEEDS) [MIM:609628]	SWISS	51	pfam08235	7662022,NP_055461
9663	2495724	Disease	p.Ser734Leu	VAR_023817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023817	- Majeed syndrome (MAJEEDS) [MIM:609628]	SWISS	454	COG5083	7662022,NP_055461
4023	126314	Disease	p.Asp36Asn	VAR_011948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011948	rs1801177 Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	36	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Asn70Ser	VAR_057914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057914	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	41	cd00707	4557727,NP_000228
4023	126314	Disease	p.Asn70Ser	VAR_057914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057914	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	73	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Val96Leu	VAR_057915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057915	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	68	cd00707	4557727,NP_000228
4023	126314	Disease	p.Val96Leu	VAR_057915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057915	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	120	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Ala98Thr	VAR_057916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057916	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	70	cd00707	4557727,NP_000228
4023	126314	Disease	p.Ala98Thr	VAR_057916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057916	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	122	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Arg102Ser	VAR_004211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004211	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	74	cd00707	4557727,NP_000228
4023	126314	Disease	p.Arg102Ser	VAR_004211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004211	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	126	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Trp113Gly	VAR_004212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004212	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	96	cd00707	4557727,NP_000228
4023	126314	Disease	p.Trp113Gly	VAR_004212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004212	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	138	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Trp113Arg	VAR_004213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004213	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	96	cd00707	4557727,NP_000228
4023	126314	Disease	p.Trp113Arg	VAR_004213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004213	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	138	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Thr128Ala	VAR_057917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057917	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	120	cd00707	4557727,NP_000228
4023	126314	Disease	p.Thr128Ala	VAR_057917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057917	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	153	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Thr128Ala	VAR_057917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057917	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	3	cd00741	4557727,NP_000228
4023	126314	Disease	p.Gly132Arg	VAR_057918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057918	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	124	cd00707	4557727,NP_000228
4023	126314	Disease	p.Gly132Arg	VAR_057918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057918	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	157	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Gly132Arg	VAR_057918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057918	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	7	cd00741	4557727,NP_000228
4023	126314	Disease	p.His163Arg	VAR_004214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004214	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	161	cd00707	4557727,NP_000228
4023	126314	Disease	p.His163Arg	VAR_004214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004214	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	188	pfam00151	4557727,NP_000228
4023	126314	Disease	p.His163Arg	VAR_004214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004214	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	75	cd00741	4557727,NP_000228
4023	126314	Disease	p.Gly169Glu	VAR_004215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004215	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	167	cd00707	4557727,NP_000228
4023	126314	Disease	p.Gly169Glu	VAR_004215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004215	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	194	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Gly169Glu	VAR_004215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004215	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	81	cd00741	4557727,NP_000228
4023	126314	Disease	p.Gly181Ser	VAR_004216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004216	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	185	cd00707	4557727,NP_000228
4023	126314	Disease	p.Gly181Ser	VAR_004216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004216	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	210	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Gly181Ser	VAR_004216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004216	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	136	cd00741	4557727,NP_000228
4023	126314	Disease	p.Gly181Val	VAR_057919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057919	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	185	cd00707	4557727,NP_000228
4023	126314	Disease	p.Gly181Val	VAR_057919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057919	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	210	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Gly181Val	VAR_057919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057919	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	136	cd00741	4557727,NP_000228
4023	126314	Disease	p.Asp183Gly	VAR_004217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004217	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	187	cd00707	4557727,NP_000228
4023	126314	Disease	p.Asp183Gly	VAR_004217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004217	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	212	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Asp183Gly	VAR_004217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004217	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	138	cd00741	4557727,NP_000228
4023	126314	Disease	p.Asp183His	VAR_057920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057920	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	187	cd00707	4557727,NP_000228
4023	126314	Disease	p.Asp183His	VAR_057920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057920	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	212	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Asp183His	VAR_057920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057920	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	138	cd00741	4557727,NP_000228
4023	126314	Disease	p.Asp183Asn	VAR_004218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004218	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	187	cd00707	4557727,NP_000228
4023	126314	Disease	p.Asp183Asn	VAR_004218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004218	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	212	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Asp183Asn	VAR_004218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004218	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	138	cd00741	4557727,NP_000228
4023	126314	Disease	p.Pro184Arg	VAR_004219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004219	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	188	cd00707	4557727,NP_000228
4023	126314	Disease	p.Pro184Arg	VAR_004219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004219	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	213	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Pro184Arg	VAR_004219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004219	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	139	cd00741	4557727,NP_000228
4023	126314	Disease	p.Ala185Thr	VAR_004220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004220	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	189	cd00707	4557727,NP_000228
4023	126314	Disease	p.Ala185Thr	VAR_004220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004220	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	214	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Ala185Thr	VAR_004220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004220	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	140	cd00741	4557727,NP_000228
4023	126314	Disease	p.Gly186Glu	VAR_057921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057921	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	190	cd00707	4557727,NP_000228
4023	126314	Disease	p.Gly186Glu	VAR_057921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057921	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	215	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Gly186Glu	VAR_057921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057921	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	141	cd00741	4557727,NP_000228
4023	126314	Disease	p.Glu190Gly	VAR_057922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057922	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	194	cd00707	4557727,NP_000228
4023	126314	Disease	p.Glu190Gly	VAR_057922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057922	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	219	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Glu190Gly	VAR_057922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057922	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	145	cd00741	4557727,NP_000228
4023	126314	Disease	p.Ser199Cys	VAR_004221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004221	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	207	cd00707	4557727,NP_000228
4023	126314	Disease	p.Ser199Cys	VAR_004221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004221	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	228	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Ser199Cys	VAR_004221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004221	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	169	cd00741	4557727,NP_000228
4023	126314	Disease	p.Asp201Val	VAR_057923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057923	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	209	cd00707	4557727,NP_000228
4023	126314	Disease	p.Asp201Val	VAR_057923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057923	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	230	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Asp201Val	VAR_057923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057923	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	171	cd00741	4557727,NP_000228
4023	126314	Disease	p.Ala203Thr	VAR_004222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004222	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	211	cd00707	4557727,NP_000228
4023	126314	Disease	p.Ala203Thr	VAR_004222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004222	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	232	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Ala203Thr	VAR_004222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004222	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	173	cd00741	4557727,NP_000228
4023	126314	Disease	p.Asp207Glu	VAR_004223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004223	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	215	cd00707	4557727,NP_000228
4023	126314	Disease	p.Asp207Glu	VAR_004223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004223	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	236	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Asp207Glu	VAR_004223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004223	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	177	cd00741	4557727,NP_000228
4023	126314	Disease	p.Val208Ile	VAR_057924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057924	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	216	cd00707	4557727,NP_000228
4023	126314	Disease	p.Val208Ile	VAR_057924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057924	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	237	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Val208Ile	VAR_057924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057924	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	178	cd00741	4557727,NP_000228
4023	126314	Disease	p.His210Asp	VAR_057925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057925	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	218	cd00707	4557727,NP_000228
4023	126314	Disease	p.His210Asp	VAR_057925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057925	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	239	pfam00151	4557727,NP_000228
4023	126314	Disease	p.His210Asp	VAR_057925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057925	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	180	cd00741	4557727,NP_000228
4023	126314	Disease	p.His210Gln	VAR_004224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004224	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	218	cd00707	4557727,NP_000228
4023	126314	Disease	p.His210Gln	VAR_004224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004224	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	239	pfam00151	4557727,NP_000228
4023	126314	Disease	p.His210Gln	VAR_004224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004224	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	180	cd00741	4557727,NP_000228
4023	126314	Disease	p.Gly215Glu	VAR_004225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004225	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	223	cd00707	4557727,NP_000228
4023	126314	Disease	p.Gly215Glu	VAR_004225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004225	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	244	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Gly215Glu	VAR_004225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004225	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	185	cd00741	4557727,NP_000228
4023	126314	Disease	p.Gly215Arg	VAR_057926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057926	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	223	cd00707	4557727,NP_000228
4023	126314	Disease	p.Gly215Arg	VAR_057926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057926	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	244	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Gly215Arg	VAR_057926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057926	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	185	cd00741	4557727,NP_000228
4023	126314	Disease	p.Ser220Arg	VAR_004226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004226	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	229	cd00707	4557727,NP_000228
4023	126314	Disease	p.Ser220Arg	VAR_004226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004226	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	250	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Ser220Arg	VAR_004226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004226	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	190	cd00741	4557727,NP_000228
4023	126314	Disease	p.Ile221Thr	VAR_004227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004227	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	230	cd00707	4557727,NP_000228
4023	126314	Disease	p.Ile221Thr	VAR_004227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004227	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	251	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Ile221Thr	VAR_004227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004227	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	191	cd00741	4557727,NP_000228
4023	126314	Disease	p.Gly222Glu	VAR_004228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004228	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	231	cd00707	4557727,NP_000228
4023	126314	Disease	p.Gly222Glu	VAR_004228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004228	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	252	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Gly222Glu	VAR_004228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004228	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	321	cd00741	4557727,NP_000228
4023	126314	Disease	p.Lys225Arg	VAR_057927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057927	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	234	cd00707	4557727,NP_000228
4023	126314	Disease	p.Lys225Arg	VAR_057927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057927	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	255	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Lys225Arg	VAR_057927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057927	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	324	cd00741	4557727,NP_000228
4023	126314	Disease	p.Val227Ala	VAR_057928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057928	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	236	cd00707	4557727,NP_000228
4023	126314	Disease	p.Val227Ala	VAR_057928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057928	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	257	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Val227Ala	VAR_057928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057928	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	326	cd00741	4557727,NP_000228
4023	126314	Disease	p.Asp231Glu	VAR_004229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004229	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	240	cd00707	4557727,NP_000228
4023	126314	Disease	p.Asp231Glu	VAR_004229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004229	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	261	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Asp231Glu	VAR_004229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004229	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	330	cd00741	4557727,NP_000228
4023	126314	Disease	p.Ile232Ser	VAR_004230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004230	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	241	cd00707	4557727,NP_000228
4023	126314	Disease	p.Ile232Ser	VAR_004230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004230	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	262	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Ile232Ser	VAR_004230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004230	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	331	cd00741	4557727,NP_000228
4023	126314	Disease	p.Pro234Leu	VAR_004231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004231	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	243	cd00707	4557727,NP_000228
4023	126314	Disease	p.Pro234Leu	VAR_004231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004231	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	264	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Pro234Leu	VAR_004231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004231	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	333	cd00741	4557727,NP_000228
4023	126314	Disease	p.Cys243Ser	VAR_004232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004232	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	253	cd00707	4557727,NP_000228
4023	126314	Disease	p.Cys243Ser	VAR_004232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004232	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	274	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Cys243Ser	VAR_004232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004232	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	342	cd00741	4557727,NP_000228
4023	126314	Disease	p.Ile252Thr	VAR_057929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057929	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	262	cd00707	4557727,NP_000228
4023	126314	Disease	p.Ile252Thr	VAR_057929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057929	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	283	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Ile252Thr	VAR_057929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057929	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	649	cd00741	4557727,NP_000228
4023	126314	Disease	p.Cys266Trp	VAR_057930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057930	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	285	cd00707	4557727,NP_000228
4023	126314	Disease	p.Cys266Trp	VAR_057930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057930	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	298	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Cys266Trp	VAR_057930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057930	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	663	cd00741	4557727,NP_000228
4023	126314	Disease	p.Arg270Cys	VAR_057931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057931	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	289	cd00707	4557727,NP_000228
4023	126314	Disease	p.Arg270Cys	VAR_057931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057931	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	302	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Arg270Cys	VAR_057931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057931	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	667	cd00741	4557727,NP_000228
4023	126314	Disease	p.Arg270His	VAR_004233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004233	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	289	cd00707	4557727,NP_000228
4023	126314	Disease	p.Arg270His	VAR_004233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004233	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	302	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Arg270His	VAR_004233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004233	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	667	cd00741	4557727,NP_000228
4023	126314	Disease	p.Ser271Thr	VAR_004234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004234	rs28934893 Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	290	cd00707	4557727,NP_000228
4023	126314	Disease	p.Ser271Thr	VAR_004234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004234	rs28934893 Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	303	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Ser271Thr	VAR_004234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004234	rs28934893 Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	668	cd00741	4557727,NP_000228
4023	126314	Disease	p.Asp277Asn	VAR_004235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004235	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	296	cd00707	4557727,NP_000228
4023	126314	Disease	p.Asp277Asn	VAR_004235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004235	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	309	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Ser278Cys	VAR_004236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004236	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	297	cd00707	4557727,NP_000228
4023	126314	Disease	p.Ser278Cys	VAR_004236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004236	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	310	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Leu279Arg	VAR_057932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057932	rs35414700 Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	298	cd00707	4557727,NP_000228
4023	126314	Disease	p.Leu279Arg	VAR_057932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057932	rs35414700 Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	311	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Leu279Val	VAR_057933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057933	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	298	cd00707	4557727,NP_000228
4023	126314	Disease	p.Leu279Val	VAR_057933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057933	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	311	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Ser286Gly	VAR_004237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004237	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	308	cd00707	4557727,NP_000228
4023	126314	Disease	p.Ser286Gly	VAR_004237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004237	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	320	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Ser286Arg	VAR_004238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004238	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	308	cd00707	4557727,NP_000228
4023	126314	Disease	p.Ser286Arg	VAR_004238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004238	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	320	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Tyr289His	VAR_057934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057934	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	311	cd00707	4557727,NP_000228
4023	126314	Disease	p.Tyr289His	VAR_057934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057934	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	323	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Phe297Leu	VAR_057935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057935	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	323	cd00707	4557727,NP_000228
4023	126314	Disease	p.Phe297Leu	VAR_057935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057935	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	331	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Leu303Phe	VAR_057936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057936	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	329	cd00707	4557727,NP_000228
4023	126314	Disease	p.Leu303Phe	VAR_057936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057936	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	337	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Cys305Arg	VAR_057937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057937	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	331	cd00707	4557727,NP_000228
4023	126314	Disease	p.Cys305Arg	VAR_057937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057937	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	339	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Cys310Tyr	VAR_057938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057938	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	346	cd00707	4557727,NP_000228
4023	126314	Disease	p.Cys310Tyr	VAR_057938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057938	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	347	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Leu313Pro	VAR_057939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057939	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	349	cd00707	4557727,NP_000228
4023	126314	Disease	p.Leu313Pro	VAR_057939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057939	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	350	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Asn318Ser	VAR_004239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004239	rs268 Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	354	cd00707	4557727,NP_000228
4023	126314	Disease	p.Asn318Ser	VAR_004239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004239	rs268 Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	356	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Ser325Arg	VAR_057940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057940	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	375	cd00707	4557727,NP_000228
4023	126314	Disease	p.Ser325Arg	VAR_057940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057940	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	363	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Met328Arg	VAR_057941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057941	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	378	cd00707	4557727,NP_000228
4023	126314	Disease	p.Met328Arg	VAR_057941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057941	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	369	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Met328Thr	VAR_004240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004240	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	378	cd00707	4557727,NP_000228
4023	126314	Disease	p.Met328Thr	VAR_004240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004240	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	369	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Leu330Phe	VAR_057942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057942	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	380	cd00707	4557727,NP_000228
4023	126314	Disease	p.Leu330Phe	VAR_057942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057942	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	371	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Leu330Pro	VAR_004241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004241	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	380	cd00707	4557727,NP_000228
4023	126314	Disease	p.Leu330Pro	VAR_004241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004241	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	371	pfam00151	4557727,NP_000228
4023	126314	Disease	p.Ala361Thr	VAR_004242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004242	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	58	smart00308	4557727,NP_000228
4023	126314	Disease	p.Ala361Thr	VAR_004242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004242	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	34	cd00113	4557727,NP_000228
4023	126314	Disease	p.Ala361Thr	VAR_004242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004242	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	21	cd01755	4557727,NP_000228
4023	126314	Disease	p.Ala361Thr	VAR_004242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004242	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	21	pfam01477	4557727,NP_000228
4023	126314	Disease	p.Ala361Thr	VAR_004242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004242	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	21	cd01758	4557727,NP_000228
4023	126314	Disease	p.Ser365Phe	VAR_057943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057943	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	95	smart00308	4557727,NP_000228
4023	126314	Disease	p.Ser365Phe	VAR_057943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057943	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	38	cd00113	4557727,NP_000228
4023	126314	Disease	p.Ser365Phe	VAR_057943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057943	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	25	cd01755	4557727,NP_000228
4023	126314	Disease	p.Ser365Phe	VAR_057943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057943	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	25	pfam01477	4557727,NP_000228
4023	126314	Disease	p.Ser365Phe	VAR_057943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057943	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	25	cd01758	4557727,NP_000228
4023	126314	Disease	p.Leu392Val	VAR_004243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004243	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	150	smart00308	4557727,NP_000228
4023	126314	Disease	p.Leu392Val	VAR_004243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004243	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	81	cd00113	4557727,NP_000228
4023	126314	Disease	p.Leu392Val	VAR_004243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004243	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	58	cd01755	4557727,NP_000228
4023	126314	Disease	p.Leu392Val	VAR_004243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004243	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	62	pfam01477	4557727,NP_000228
4023	126314	Disease	p.Leu392Val	VAR_004243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004243	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	53	cd01758	4557727,NP_000228
4023	126314	Disease	p.Glu437Lys	VAR_004245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004245	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	216	smart00308	4557727,NP_000228
4023	126314	Disease	p.Glu437Lys	VAR_004245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004245	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	140	cd00113	4557727,NP_000228
4023	126314	Disease	p.Glu437Lys	VAR_004245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004245	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	123	cd01755	4557727,NP_000228
4023	126314	Disease	p.Glu437Lys	VAR_004245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004245	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	122	pfam01477	4557727,NP_000228
4023	126314	Disease	p.Glu437Lys	VAR_004245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004245	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	111	cd01758	4557727,NP_000228
4023	126314	Disease	p.Glu437Val	VAR_004246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004246	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	216	smart00308	4557727,NP_000228
4023	126314	Disease	p.Glu437Val	VAR_004246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004246	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	140	cd00113	4557727,NP_000228
4023	126314	Disease	p.Glu437Val	VAR_004246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004246	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	123	cd01755	4557727,NP_000228
4023	126314	Disease	p.Glu437Val	VAR_004246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004246	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	122	pfam01477	4557727,NP_000228
4023	126314	Disease	p.Glu437Val	VAR_004246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004246	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	111	cd01758	4557727,NP_000228
4023	126314	Disease	p.Cys445Tyr	VAR_057944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057944	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	226	smart00308	4557727,NP_000228
4023	126314	Disease	p.Cys445Tyr	VAR_057944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057944	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	151	cd00113	4557727,NP_000228
4023	126314	Disease	p.Cys445Tyr	VAR_057944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057944	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	160	cd01755	4557727,NP_000228
4023	126314	Disease	p.Cys445Tyr	VAR_057944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057944	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	138	pfam01477	4557727,NP_000228
4023	126314	Disease	p.Cys445Tyr	VAR_057944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057944	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	119	cd01758	4557727,NP_000228
4023	126314	Disease	p.Glu448Lys	VAR_057945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057945	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	229	smart00308	4557727,NP_000228
4023	126314	Disease	p.Glu448Lys	VAR_057945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057945	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	154	cd00113	4557727,NP_000228
4023	126314	Disease	p.Glu448Lys	VAR_057945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057945	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	163	cd01755	4557727,NP_000228
4023	126314	Disease	p.Glu448Lys	VAR_057945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057945	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	141	pfam01477	4557727,NP_000228
4023	126314	Disease	p.Glu448Lys	VAR_057945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057945	- Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600]	SWISS	122	cd01758	4557727,NP_000228
9227	46576867	Disease	p.Ser175Arg	VAR_018386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018386	- Leber congenital amaurosis type 14 (LCA14) [MIM:613341]	SWISS	97	pfam04970	46249410,NP_004735
4036	160332309	Disease	p.Tyr2522His	VAR_037013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037013	- Donnai-Barrow syndrome (DBS) [MIM:222448]	SWISS	4	pfam00058	126012573,NP_004516
4036	160332309	Disease	p.Tyr2522His	VAR_037013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037013	- Donnai-Barrow syndrome (DBS) [MIM:222448]	SWISS	28	smart00135	126012573,NP_004516
4041	62512139	Disease	p.Asp111Tyr	VAR_021807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021807	- Osteopetrosis autosomal dominant type 1 (OPTA1) [MIM:607634]	SWISS	14	smart00135	119709832,NP_002326
4041	62512139	Disease	p.Gly171Arg	VAR_021808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021808	- Osteopetrosis autosomal dominant type 1 (OPTA1) [MIM:607634]	SWISS	9	pfam00058	119709832,NP_002326
4041	62512139	Disease	p.Gly171Arg	VAR_021808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021808	- Osteopetrosis autosomal dominant type 1 (OPTA1) [MIM:607634]	SWISS	37	smart00135	119709832,NP_002326
4041	62512139	Disease	p.Gly171Val	VAR_021809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021809	- High bone mass trait (HBM) [MIM:601884]	SWISS	9	pfam00058	119709832,NP_002326
4041	62512139	Disease	p.Gly171Val	VAR_021809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021809	- High bone mass trait (HBM) [MIM:601884]	SWISS	37	smart00135	119709832,NP_002326
4041	62512139	Disease	p.Ala214Thr	VAR_021810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021810	- Endosteal hyperostosis Worth type (WENHY) [MIM:144750]	SWISS	32	smart00135	119709832,NP_002326
4041	62512139	Disease	p.Ala214Thr	VAR_021810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021810	- Endosteal hyperostosis Worth type (WENHY) [MIM:144750]	SWISS	8	pfam00058	119709832,NP_002326
4041	62512139	Disease	p.Ala214Val	VAR_021811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021811	- Endosteal hyperostosis Worth type (WENHY) [MIM:144750]	SWISS	32	smart00135	119709832,NP_002326
4041	62512139	Disease	p.Ala214Val	VAR_021811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021811	- Endosteal hyperostosis Worth type (WENHY) [MIM:144750]	SWISS	8	pfam00058	119709832,NP_002326
4041	62512139	Disease	p.Ala242Thr	VAR_021812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021812	- Endosteal hyperostosis Worth type (WENHY) [MIM:144750]	SWISS	17	smart00135	119709832,NP_002326
4041	62512139	Disease	p.Ala242Thr	VAR_021812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021812	- Endosteal hyperostosis Worth type (WENHY) [MIM:144750]	SWISS	52	pfam00058	119709832,NP_002326
4041	62512139	Disease	p.Ala242Thr	VAR_021812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021812	- Osteopetrosis autosomal dominant type 1 (OPTA1) [MIM:607634]	SWISS	17	smart00135	119709832,NP_002326
4041	62512139	Disease	p.Ala242Thr	VAR_021812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021812	- Osteopetrosis autosomal dominant type 1 (OPTA1) [MIM:607634]	SWISS	52	pfam00058	119709832,NP_002326
4041	62512139	Disease	p.Ala242Thr	VAR_021812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021812	- Van Buchem disease type 2 (VBCH2) [MIM:607636]	SWISS	17	smart00135	119709832,NP_002326
4041	62512139	Disease	p.Ala242Thr	VAR_021812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021812	- Van Buchem disease type 2 (VBCH2) [MIM:607636]	SWISS	52	pfam00058	119709832,NP_002326
4041	62512139	Disease	p.Thr253Ile	VAR_021813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021813	- Osteopetrosis autosomal dominant type 1 (OPTA1) [MIM:607634]	SWISS	30	smart00135	119709832,NP_002326
4041	62512139	Disease	p.Met282Val	VAR_063412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063412	- High bone mass trait (HBM) [MIM:601884]	SWISS	No Domain	N/A	119709832,NP_002326
4041	62512139	Disease	p.Arg570Gln	VAR_021222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021222	- Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]	SWISS	53	smart00135	119709832,NP_002326
4041	62512139	Disease	p.Arg752Cys	VAR_021223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021223	- Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]	SWISS	31	pfam00058	119709832,NP_002326
4041	62512139	Disease	p.Cys1361Gly	VAR_018467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018467	- Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]	SWISS	44	pfam00057	119709832,NP_002326
4041	62512139	Disease	p.Cys1361Gly	VAR_018467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018467	- Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]	SWISS	57	cd00112	119709832,NP_002326
4041	62512139	Disease	p.Cys1361Gly	VAR_018467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018467	- Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]	SWISS	48	smart00192	119709832,NP_002326
4041	62512139	Disease	p.Glu1367Lys	VAR_021224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021224	rs28939709 Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]	SWISS	55	pfam00057	119709832,NP_002326
4041	62512139	Disease	p.Glu1367Lys	VAR_021224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021224	rs28939709 Vitreoretinopathy exudative type 4 (EVR4) [MIM:601813]	SWISS	70	cd00112	119709832,NP_002326
4040	47117044	Disease	p.Arg611Cys	VAR_034701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034701	- Autosomal dominant coronary artery disease type 2 (ADCAD2) [MIM:610947]	SWISS	34	pfam00008	NULL
4040	47117044	Disease	p.Arg611Cys	VAR_034701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034701	- Autosomal dominant coronary artery disease type 2 (ADCAD2) [MIM:610947]	SWISS	49	smart00181	NULL
4040	47117044	Disease	p.Arg611Cys	VAR_034701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034701	- Autosomal dominant coronary artery disease type 2 (ADCAD2) [MIM:610947]	SWISS	50	cd00053	NULL
10128	156632706	Disease	p.Ala354Val	VAR_018656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018656	- Leigh syndrome French-Canadian type (LSFC) [MIM:220111]	SWISS	No Domain	N/A	31621305,NP_573566
123872	215274261	Disease	p.Leu175Arg	VAR_063098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063098	- Primary ciliary dyskinesia type 13 (CILD13) [MIM:613193]	SWISS	No Domain	N/A	157674358,NP_848547
120892	294862450	Disease	p.Met712Val	VAR_054741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054741	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	No Domain	N/A	NULL
120892	294862450	Disease	p.Arg793Met	VAR_024935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024935	rs35173587 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	No Domain	N/A	NULL
120892	294862450	Disease	p.Gln930Arg	VAR_024936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024936	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	No Domain	N/A	NULL
120892	294862450	Disease	p.Arg1067Gln	VAR_024938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024938	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	161	COG4886	NULL
120892	294862450	Disease	p.Ser1096Cys	VAR_024939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024939	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	199	COG4886	NULL
120892	294862450	Disease	p.Ile1122Val	VAR_024940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024940	rs34805604 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	316	COG4886	NULL
120892	294862450	Disease	p.Ser1228Thr	VAR_024941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024941	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	677	COG4886	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	117	COG1100	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	38	cd01867	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	39	cd01866	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	42	cd04114	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	150	cd00882	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	35	cd01871	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	36	cd01865	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	37	cd04115	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	35	cd01870	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	41	cd04110	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	34	pfam00071	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	122	cd04112	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	35	cd00877	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	38	cd01869	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	37	cd04122	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	39	cd04127	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	37	cd01861	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	35	cd01862	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	39	cd01863	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	35	cd04113	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	132	cd00154	NULL
120892	294862450	Disease	p.Ile1371Val	VAR_024943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024943	rs17466213 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	35	cd04117	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	277	COG1100	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	104	cd01867	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	106	cd01866	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	108	cd04114	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	504	cd00882	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	102	cd01871	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	102	cd01865	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	104	cd04115	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	102	cd01870	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	107	cd04110	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	116	pfam00071	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	190	cd04112	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	108	cd00877	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	105	cd01869	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	103	cd04122	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	115	cd04127	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	104	cd01861	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	104	cd01862	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	112	cd01863	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	105	cd04113	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	264	cd00154	NULL
120892	294862450	Disease	p.Arg1441Gly	VAR_024946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024946	rs33939927 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	101	cd04117	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	277	COG1100	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	104	cd01867	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	106	cd01866	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	108	cd04114	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	504	cd00882	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	102	cd01871	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	102	cd01865	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	104	cd04115	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	102	cd01870	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	107	cd04110	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	116	pfam00071	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	190	cd04112	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	108	cd00877	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	105	cd01869	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	103	cd04122	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	115	cd04127	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	104	cd01861	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	104	cd01862	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	112	cd01863	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	105	cd04113	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	264	cd00154	NULL
120892	294862450	Disease	p.Arg1441His	VAR_024947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024947	rs34995376 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	101	cd04117	NULL
120892	294862450	Disease	p.Arg1514Gln	VAR_024948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024948	rs35507033 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	437	COG1100	NULL
120892	294862450	Disease	p.Arg1514Gln	VAR_024948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024948	rs35507033 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	194	cd04115	NULL
120892	294862450	Disease	p.Arg1514Gln	VAR_024948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024948	rs35507033 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	173	cd01870	NULL
120892	294862450	Disease	p.Arg1514Gln	VAR_024948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024948	rs35507033 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	186	cd04110	NULL
120892	294862450	Disease	p.Arg1514Gln	VAR_024948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024948	rs35507033 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	195	cd04113	NULL
120892	294862450	Disease	p.Pro1542Ser	VAR_024949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024949	rs33958906 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	481	COG1100	NULL
120892	294862450	Disease	p.Val1598Glu	VAR_024950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024950	rs721710 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	No Domain	N/A	NULL
120892	294862450	Disease	p.Tyr1699Cys	VAR_024954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024954	rs35801418 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	No Domain	N/A	NULL
120892	294862450	Disease	p.Arg1728His	VAR_054744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054744	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	No Domain	N/A	NULL
120892	294862450	Disease	p.Arg1728Leu	VAR_054745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054745	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	No Domain	N/A	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	20	cd05055	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	3	cd05111	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	6	cd06618	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	5	cd07851	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	5	cd07878	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	3	cd05057	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	3	cd06645	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	3	cd06646	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	3	cd05092	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	6	cd07850	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	7	cd07880	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	2	cd05056	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	2	cd05083	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	2	cd05082	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	2	cd05039	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	14	cd05098	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	9	cd06638	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	132	cd05105	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	13	cd06647	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	9	cd05101	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	7	cd05095	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	7	cd07877	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	19	cd06635	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	11	cd06639	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	14	cd06659	NULL
120892	294862450	Disease	p.Met1869Thr	VAR_024955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024955	rs35602796 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	5	cd06614	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	91	cd05038	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	73	cd05052	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	73	cd07868	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	84	cd06609	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72	cd05612	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	90	cd06623	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	70	cd06615	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72	cd05609	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	94	cd05574	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	73	cd07867	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	80	cd05048	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	112	cd05055	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	87	cd07843	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	80	cd05111	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	85	cd06618	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	92	cd07851	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	84	cd07878	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	129	cd05057	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	77	cd06645	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	77	cd06646	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	80	cd05092	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	374	COG0515	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	82	cd05062	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	82	cd05036	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	81	cd05079	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	82	cd05061	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	73	cd07870	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	75_G	cd07866	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	93_G	cd07840	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	80	cd07838	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	99	cd06608	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	81	cd06616	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	79	cd07854	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	80	cd07856	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	76	cd07844	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	76	cd07835	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	73	cd05069	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72	cd05073	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	73	cd05070	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72	cd05072	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72	cd05034	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	77	cd07849	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	113	cd05572	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	66	cd05579	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	66	cd05607	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	66	cd05084	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	71	cd05042	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	77	cd07832	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	73	cd05060	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	75	cd06611	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	68	cd05116	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	104	cd07830	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	105	cd05123	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72	cd05118	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	69	cd07831	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	66	cd05608	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	67	cd05577	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72	cd07839	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	64	cd05585	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	240	cd00180	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	77	cd07852	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	70	cd05078	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	87	cd05037	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	73	cd06642	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	73	cd06641	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	73	cd06640	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	95	cd07850	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	93	cd07880	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72	cd06605	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	123	cd05581	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	74	cd05089	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	96	cd07865	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	73	cd06613	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	92	cd07855	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	87	cd06648	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	91	cd06619	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	70	cd06622	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	120	cd05580	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	71	cd06617	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	108	cd05056	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	70	cd05083	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	70	cd05082	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	77	cd05039	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	80	cd06632	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	67	cd05619	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72	cd05074	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	82	cd05035	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	79	cd06629	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	74	cd06630	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	79	cd06652	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	74	cd05058	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	67	cd05603	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	70	cd08217	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	67	cd05047	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	67	cd05593	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	67	cd05592	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	100	cd07829	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	66	cd05571	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	100	cd07834	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	80_G	cd06917	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	67	cd05590	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	73	cd06631	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	67	cd05595	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	67	cd05591	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	70	cd08221	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	75	cd06625	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	89	cd08215	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	66	cd05085	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	69	cd05606	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	67	cd05588	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	67	cd05594	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	69	cd05582	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	67	cd05575	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	67	cd05602	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	68	cd05633	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	81	cd06612	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	79	cd06653	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	73	cd06621	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72	cd07846	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	71	cd05615	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	70	cd07859	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	89	cd08528	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	79	cd06628	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	70	cd08218	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	73	cd08228	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72_G	cd08219	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	73	cd08229	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	69	cd07853	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	76	cd07863	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	95	cd05098	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	74	cd08529	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	79	cd06651	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	135	cd06606	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	85	cd07841	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	73	cd05605	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72	cd08220	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	70	cd08225	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	87	cd05122	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72_G	cd07857	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	73	cd05630	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	79	cd07845	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	71	cd07847	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72	cd07860	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	71	cd07836	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	86	cd06638	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	74	cd06626	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	75	cd06627	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	75	cd05589	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	71	cd05616	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	78	cd05583	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	74	cd08222	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	74	cd05045	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	75	cd05584	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	64	cd05587	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	73	cd05578	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	71	cd08530	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72	cd08223	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	165	cd07842	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	67	cd05041	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	70	cd05044	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	70	cd05040	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	69	cd05570	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	67	cd05115	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	81	cd05080	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	122	cd00192	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	73	cd06643	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	86	cd06634	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	76	cd06624	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	211	cd05105	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	87	cd06647	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	92	cd05101	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	93	cd05095	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	86	cd07877	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	96	cd06635	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	80	cd06644	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72	cd07837	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	92	cd07833	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72	cd06610	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	107	pfam00069	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	94	cd05043	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	97	cd06639	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	78	cd05065	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	76	cd07858	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	82	cd05102	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	82	cd05103	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	139	cd05046	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	80	cd05063	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	73	cd05071	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	79	cd05091	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	76	cd05148	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	80	cd05090	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	77	cd05064	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	80	cd05108	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	79	cd05088	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	80	cd05110	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	89	cd05100	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	89	cd05099	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	80	cd05109	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	79	cd05049	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	77	cd07864	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	89	cd06659	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	78	cd05066	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	80	cd05081	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	102	cd05033	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	115	cd05032	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	81	cd05050	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	74	cd08224	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	91	cd05053	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	86	cd06607	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	74	cd06637	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72	cd05059	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72	cd05114	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72	cd05113	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	70	cd05112	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72	cd05068	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	74	cd06620	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	72	cd05067	NULL
120892	294862450	Disease	p.Arg1941His	VAR_024956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024956	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	99	cd06614	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	171	cd05038	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	142	cd05052	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd07868	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	162	cd06609	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	139	cd05612	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	187	cd06623	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	140	cd06615	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	156	cd05609	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	180	cd05574	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd07867	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	166_G	cd05048	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	277	cd05055	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	157	cd07843	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd05111	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	157	cd06618	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	172	cd07851	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	156	cd07878	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	200	cd05057	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	145_G	cd06645	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	145_G	cd06646	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	160	cd05092	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	658	COG0515	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	157	cd05062	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	159	cd05036	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd05079	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	158	cd05061	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd07870	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	169	cd07866	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	188	cd07840	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	165	cd07838	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	182_G	cd06608	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	154_G	cd06616	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	165	cd07854	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd07856	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	142	cd07844	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	165	cd07835	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	140	cd05069	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd05073	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	140	cd05070	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd05072	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	145	cd05034	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd07849	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	206	cd05572	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	134	cd05579	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	133	cd05607	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	132	cd05084	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd05042	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	158	cd07832	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	140	cd05060	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	143_G	cd06611	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	133	cd05116	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	214	cd07830	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	654	cd05123	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd05118	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	145	cd07831	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	135	cd05608	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	139	cd05577	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	137	cd07839	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	132	cd05585	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	438	cd00180	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd07852	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd05078	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	165	cd05037	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	139	cd06642	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	139	cd06641	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	139	cd06640	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	158	cd07850	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	156	cd07880	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	158_G	cd06605	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	254	cd05581	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	157	cd05089	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	162	cd07865	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd06613	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	166	cd07855	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	154	cd06648	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	154	cd06619	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	154	cd06622	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	192_G	cd05580	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	143	cd06617	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	174	cd05056	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	138	cd05083	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	140	cd05082	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	144	cd05039	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	158_G	cd06632	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	135_G	cd05619	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd05074	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	161	cd05035	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd06629	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	142	cd06630	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	168	cd06652	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	143	cd05058	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	134	cd05603	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	209	cd08217	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	150	cd05047	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	133	cd05593	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	149	cd05592	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	188	cd07829	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	134	cd05571	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	184	cd07834	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	149_G	cd06917	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	134	cd05590	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	143_G	cd06631	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	133	cd05595	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	134	cd05591	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	140	cd08221	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	144_G	cd06625	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	198	cd08215	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	132	cd05085	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	136	cd05606	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	134	cd05588	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	134	cd05594	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	136	cd05582	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	134	cd05575	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	136	cd05602	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	135	cd05633	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	153	cd06612	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	144	cd06653	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd06621	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	139	cd07846	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	139	cd05615	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd07859	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	163	cd08528	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd06628	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	139	cd08218	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	144	cd08228	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	139_G	cd08219	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	144	cd08229	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	142	cd07853	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	149	cd07863	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	178	cd05098	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	144	cd08529	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	144	cd06651	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	228	cd06606	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	155	cd07841	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	140	cd05605	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	149	cd08220	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	140	cd08225	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	173	cd05122	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd07857	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	140	cd05630	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	159	cd07845	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	144	cd07847	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	138	cd07860	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd07836	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	163_G	cd06638	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd06626	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd06627	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	139	cd05589	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	139	cd05616	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	143	cd05583	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	144	cd08222	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	165	cd05045	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	142	cd05584	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	144	cd05587	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	139	cd05578	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd08530	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	140	cd08223	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	248	cd07842	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	134	cd05041	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	155	cd05044	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd05040	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	136	cd05570	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	133	cd05115	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	145	cd05080	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	358	cd00192	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	142_G	cd06643	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	153	cd06634	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152	cd06624	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	278	cd05105	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	153	cd06647	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	175	cd05101	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	179	cd05095	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	158	cd07877	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	163	cd06635	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	149_G	cd06644	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	157	cd07837	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	165	cd07833	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	150	cd06610	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	249	pfam00069	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	183	cd05043	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	173	cd06639	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	144	cd05065	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd07858	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	216	cd05102	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	218	cd05103	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	224	cd05046	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd05063	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	140	cd05071	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	162	cd05091	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	143	cd05148	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	162	cd05090	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	145	cd05064	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147_G	cd05108	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	162	cd05088	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147_G	cd05110	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	172	cd05100	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	172	cd05099	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147_G	cd05109	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	170	cd05049	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	156	cd07864	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	155	cd06659	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	144	cd05066	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd05081	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	176	cd05033	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	202	cd05032	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	171	cd05050	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	145	cd08224	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	188	cd05053	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	153	cd06607	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	150_G	cd06637	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	140	cd05059	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	138	cd05114	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	139	cd05113	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	138	cd05112	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	143	cd05068	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	144	cd06620	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	140	cd05067	NULL
120892	294862450	Disease	p.Ile2012Thr	VAR_024957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024957	rs34015634 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	190	cd06614	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	177	cd05038	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	149	cd05052	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	157	cd07868	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	169	cd06609	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd05612	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	194	cd06623	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd06615	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	163	cd05609	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	187	cd05574	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	157	cd07867	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	172	cd05048	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	284	cd05055	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	164	cd07843	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	154	cd05111	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	164	cd06618	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	179	cd07851	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	163	cd07878	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	207	cd05057	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd06645	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd06646	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	167	cd05092	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	665	COG0515	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	164	cd05062	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	166	cd05036	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	154	cd05079	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	165	cd05061	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd07870	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	176	cd07866	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	195	cd07840	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	172	cd07838	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	188	cd06608	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	160	cd06616	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	172	cd07854	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	153	cd07856	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	149	cd07844	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	172	cd07835	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd05069	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd05073	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd05070	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd05072	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152	cd05034	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	155	cd07849	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	213	cd05572	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd05579	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	140	cd05607	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	139	cd05084	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd05042	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	165	cd07832	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd05060	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	150	cd06611	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	140	cd05116	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	221	cd07830	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	661	cd05123	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	154	cd05118	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152	cd07831	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	142	cd05608	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	145	cd05577	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	144	cd07839	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	138	cd05585	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	445	cd00180	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	154	cd07852	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	155	cd05078	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	172	cd05037	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd06642	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd06641	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd06640	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	165	cd07850	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	163	cd07880	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	164	cd06605	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	261	cd05581	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	164	cd05089	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	169	cd07865	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd06613	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	173	cd07855	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	161	cd06648	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	161	cd06619	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	161	cd06622	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	199	cd05580	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	150	cd06617	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	181	cd05056	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	145	cd05083	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd05082	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd05039	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	164	cd06632	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd05619	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	158	cd05074	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	168	cd05035	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	155	cd06629	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	149	cd06630	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	175	cd06652	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	150	cd05058	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd05603	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	216	cd08217	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	157	cd05047	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	140	cd05593	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	156	cd05592	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	195	cd07829	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd05571	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	191	cd07834	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	156	cd06917	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd05590	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	149	cd06631	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	140	cd05595	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd05591	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd08221	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd06625	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	205	cd08215	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	139	cd05085	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	143	cd05606	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd05588	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd05594	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	143	cd05582	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd05575	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd05602	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	142	cd05633	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	160	cd06612	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd06653	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	155	cd06621	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd07846	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd05615	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd07859	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	168	cd08528	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	153	cd06628	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd08218	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd08228	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	145	cd08219	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd08229	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	149	cd07853	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	156	cd07863	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	185	cd05098	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd08529	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd06651	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	235	cd06606	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	162	cd07841	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd05605	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	156	cd08220	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd08225	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	180	cd05122	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	154	cd07857	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd05630	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	166	cd07845	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd07847	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	145	cd07860	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd07836	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	169	cd06638	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd06626	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	155	cd06627	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd05589	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd05616	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	150	cd05583	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd08222	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	172	cd05045	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	149	cd05584	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd05587	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd05578	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	154	cd08530	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd08223	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	255	cd07842	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd05041	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	162	cd05044	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	153	cd05040	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	143	cd05570	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	140	cd05115	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152	cd05080	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	365	cd00192	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd06643	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	160	cd06634	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	159	cd06624	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	285	cd05105	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	160	cd06647	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	182	cd05101	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	186	cd05095	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	165	cd07877	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	170	cd06635	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	155	cd06644	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	164	cd07837	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	172	cd07833	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	157	cd06610	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	256	pfam00069	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	190	cd05043	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	180	cd06639	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd05065	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	154	cd07858	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	223	cd05102	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	225	cd05103	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	231	cd05046	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	153	cd05063	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd05071	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	169	cd05091	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	150	cd05148	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	169	cd05090	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152	cd05064	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	154	cd05108	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	169	cd05088	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	154	cd05110	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	179	cd05100	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	179	cd05099	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	154	cd05109	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	177	cd05049	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	163	cd07864	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	162	cd06659	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd05066	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	153	cd05081	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	183	cd05033	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	209	cd05032	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	178	cd05050	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152	cd08224	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	195	cd05053	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	160	cd06607	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	156	cd06637	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd05059	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	145	cd05114	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd05113	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	145	cd05112	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	150	cd05068	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd06620	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd05067	NULL
120892	294862450	Disease	p.Gly2019Ser	VAR_024958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024958	rs34637584 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	197	cd06614	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	178	cd05038	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	150	cd05052	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	158	cd07868	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	170	cd06609	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd05612	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	195	cd06623	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd06615	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	164	cd05609	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	207	cd05574	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	158	cd07867	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	173	cd05048	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	285	cd05055	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	165	cd07843	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	155	cd05111	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	165	cd06618	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	180	cd07851	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	164	cd07878	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	208	cd05057	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152	cd06645	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152	cd06646	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	168	cd05092	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	666	COG0515	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	165	cd05062	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	167	cd05036	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	159	cd05079	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	166	cd05061	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	149	cd07870	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	177	cd07866	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	196	cd07840	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	173	cd07838	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	189	cd06608	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	161	cd06616	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	173	cd07854	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	154	cd07856	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	150	cd07844	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	173	cd07835	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd05069	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	149	cd05073	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd05070	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	149	cd05072	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	153	cd05034	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	156	cd07849	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	214	cd05572	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	142	cd05579	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd05607	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	140	cd05084	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	149	cd05042	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	166	cd07832	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd05060	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd06611	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd05116	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	222	cd07830	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	662	cd05123	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	155	cd05118	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152_G	cd07831	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	143	cd05608	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd05577	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	145	cd07839	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	139	cd05585	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	446	cd00180	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	155	cd07852	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	156	cd05078	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	173	cd05037	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd06642	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd06641	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd06640	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	166	cd07850	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	164	cd07880	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	165	cd06605	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	262	cd05581	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	165	cd05089	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	170	cd07865	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	149	cd06613	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	174	cd07855	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	162	cd06648	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	162	cd06619	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	162	cd06622	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	200	cd05580	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd06617	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	182	cd05056	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd05083	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd05082	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152	cd05039	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	165	cd06632	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	142	cd05619	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	159	cd05074	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	169	cd05035	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	156	cd06629	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	150	cd06630	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	176	cd06652	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd05058	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	142	cd05603	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	217	cd08217	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	158	cd05047	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd05593	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	157	cd05592	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	196	cd07829	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	142	cd05571	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	192	cd07834	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	157	cd06917	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	142	cd05590	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	150	cd06631	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd05595	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	142	cd05591	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd08221	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152	cd06625	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	206	cd08215	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	140	cd05085	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	144	cd05606	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	142	cd05588	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	142	cd05594	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	144	cd05582	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	142	cd05575	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	142	cd05602	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	143	cd05633	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	161	cd06612	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152	cd06653	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	156	cd06621	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd07846	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd05615	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	149	cd07859	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	169	cd08528	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	154	cd06628	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd08218	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152	cd08228	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd08219	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152	cd08229	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	150	cd07853	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	157	cd07863	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	186	cd05098	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152	cd08529	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152	cd06651	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	240	cd06606	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	163	cd07841	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd05605	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	157	cd08220	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd08225	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	181	cd05122	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	155	cd07857	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd05630	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	167	cd07845	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152	cd07847	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd07860	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	149	cd07836	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	170	cd06638	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	149	cd06626	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	156	cd06627	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd05589	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd05616	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd05583	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152	cd08222	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	173	cd05045	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	150	cd05584	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152	cd05587	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd05578	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	155	cd08530	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd08223	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	256	cd07842	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	142	cd05041	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	163	cd05044	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	154	cd05040	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	144	cd05570	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	141	cd05115	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	153	cd05080	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	366	cd00192	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	149	cd06643	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	161	cd06634	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	160	cd06624	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	286	cd05105	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	161	cd06647	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	183	cd05101	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	187	cd05095	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	166	cd07877	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	171	cd06635	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	156	cd06644	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	165	cd07837	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	173	cd07833	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	158	cd06610	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	257	pfam00069	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	191	cd05043	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	181	cd06639	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152	cd05065	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	155	cd07858	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	224	cd05102	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	226	cd05103	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	232	cd05046	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	154	cd05063	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd05071	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	170	cd05091	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd05148	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	170	cd05090	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	153	cd05064	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	155	cd05108	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	170	cd05088	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	155	cd05110	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	180	cd05100	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	180	cd05099	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	155	cd05109	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	178	cd05049	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	164	cd07864	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	163	cd06659	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	152	cd05066	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	154	cd05081	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	184	cd05033	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	210	cd05032	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	179	cd05050	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	153	cd08224	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	196	cd05053	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	161	cd06607	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	157	cd06637	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd05059	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd05114	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	147	cd05113	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	146	cd05112	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	151	cd05068	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	160	cd06620	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	148	cd05067	NULL
120892	294862450	Disease	p.Ile2020Thr	VAR_024959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024959	rs35870237 Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	197_G	cd06614	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	309	cd06609	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	325	cd06615	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	282	cd05609	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	303	cd07867	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	316	cd06618	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	303	cd07851	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	287	cd07878	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	326	cd05057	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	287	cd05092	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	1203	COG0515	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	272	cd07870	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	299	cd06616	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	359	cd07854	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	320	cd07856	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	275	cd07844	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	294	cd07835	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	363	cd07849	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	271	cd05607	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	263	cd05608	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	264	cd07839	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	286	cd05585	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	333	cd07852	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	270	cd06642	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	267	cd06641	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	267	cd06640	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	307	cd07850	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	279	cd07880	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	282	cd05089	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	355	cd07855	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	284	cd06648	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	301	cd06619	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	288	cd06622	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	285	cd06617	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	289	cd05619	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	258	cd05603	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	292	cd05593	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	280	cd05592	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	297	cd05571	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	475	cd07834	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	288	cd06917	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	261	cd05590	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	263	cd05595	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	267	cd05591	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	273	cd05606	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	277	cd05588	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	264	cd05594	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	261	cd05582	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	260	cd05575	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	264	cd05602	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	271	cd05633	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	270	cd05615	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	310	cd07859	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	280	cd07853	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	270	cd07863	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	303	cd05098	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	344	cd07841	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	263_G	cd05605	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	332	cd07857	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	277	cd05630	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	323	cd07845	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	282	cd07847	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	262	cd07860	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	273	cd07836	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	272	cd05589	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	269	cd05616	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	284	cd05583	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	273	cd05584	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	277	cd05587	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	281	cd06643	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	275	cd06634	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	282	cd06647	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	302	cd05101	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	288	cd07877	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	290	cd06635	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	281	cd06644	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	280	cd07837	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	278	cd07858	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	281	cd05108	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	288	cd05088	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	287	cd05110	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	300	cd05100	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	307	cd05099	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	272	cd05109	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	284	cd07864	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	284	cd06659	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	286	cd06607	NULL
120892	294862450	Disease	p.Thr2141Met	VAR_054747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054747	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	323	cd06614	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	311	cd06609	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	284	cd05609	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	305	cd07867	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	305	cd07851	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	289	cd07878	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	328	cd05057	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	1205	COG0515	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	274	cd07870	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	301	cd06616	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	361	cd07854	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	322	cd07856	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	277	cd07844	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	296	cd07835	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	365	cd07849	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	273	cd05607	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	265	cd05608	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	266	cd07839	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	288	cd05585	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	335	cd07852	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	272	cd06642	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	269	cd06641	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	269	cd06640	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	309	cd07850	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	281	cd07880	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	284	cd05089	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	357	cd07855	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	286	cd06648	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	303	cd06619	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	290	cd06622	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	287	cd06617	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	291	cd05619	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	266	cd05603	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	294	cd05593	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	282	cd05592	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	299	cd05571	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	477	cd07834	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	290	cd06917	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	263	cd05590	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	265	cd05595	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	269	cd05591	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	275	cd05606	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	279	cd05588	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	266	cd05594	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	263	cd05582	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	262	cd05575	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	266	cd05602	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	273	cd05633	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	272	cd05615	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	313	cd07859	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	282	cd07853	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	272	cd07863	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	305	cd05098	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	346	cd07841	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	265	cd05605	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	334	cd07857	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	279	cd05630	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	325	cd07845	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	284	cd07847	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	264	cd07860	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	275	cd07836	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	274	cd05589	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	271	cd05616	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	286	cd05583	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	275	cd05584	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	279	cd05587	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	276_G	cd06634	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	284	cd06647	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	290	cd07877	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	292	cd06635	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	283	cd06644	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	282	cd07837	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	280	cd07858	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	283	cd05108	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	290	cd05088	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	291	cd05110	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	302	cd05100	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	309	cd05099	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	274	cd05109	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	286	cd07864	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	286	cd06659	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	288	cd06607	NULL
120892	294862450	Disease	p.Arg2143His	VAR_054748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054748	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	325	cd06614	NULL
120892	294862450	Disease	p.Thr2356Ile	VAR_024963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024963	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	No Domain	N/A	NULL
120892	294862450	Disease	p.Leu2466His	VAR_054750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054750	- Parkinson disease type 8 (PARK8) [MIM:607060]	SWISS	No Domain	N/A	NULL
220074	226693615	Disease	p.Leu16Pro	VAR_047554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047554	- Deafness autosomal recessive type 63 (DFNB63) [MIM:611451]	SWISS	No Domain	N/A	223718164,NP_001138781|223718159,NP_001138780
220074	226693615	Disease	p.Arg81Gln	VAR_054955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054955	- Deafness autosomal recessive type 63 (DFNB63) [MIM:611451]	SWISS	11	COG4122	223718164,NP_001138781|223718159,NP_001138780
220074	226693615	Disease	p.Trp105Arg	VAR_054956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054956	- Deafness autosomal recessive type 63 (DFNB63) [MIM:611451]	SWISS	20	pfam01596	223718164,NP_001138781|223718159,NP_001138780
220074	226693615	Disease	p.Trp105Arg	VAR_054956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054956	- Deafness autosomal recessive type 63 (DFNB63) [MIM:611451]	SWISS	35	COG4122	223718164,NP_001138781|223718159,NP_001138780
220074	226693615	Disease	p.Glu110Lys	VAR_054957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054957	- Deafness autosomal recessive type 63 (DFNB63) [MIM:611451]	SWISS	25	pfam01596	223718164,NP_001138781|223718159,NP_001138780
220074	226693615	Disease	p.Glu110Lys	VAR_054957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054957	- Deafness autosomal recessive type 63 (DFNB63) [MIM:611451]	SWISS	40	COG4122	223718164,NP_001138781|223718159,NP_001138780
220074	226693615	Disease	p.Arg158His	VAR_047555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047555	- Deafness autosomal recessive type 63 (DFNB63) [MIM:611451]	SWISS	75	pfam01596	223718164,NP_001138781|223718159,NP_001138780
220074	226693615	Disease	p.Arg158His	VAR_047555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047555	- Deafness autosomal recessive type 63 (DFNB63) [MIM:611451]	SWISS	32	cd02440	223718164,NP_001138781|223718159,NP_001138780
220074	226693615	Disease	p.Arg158His	VAR_047555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047555	- Deafness autosomal recessive type 63 (DFNB63) [MIM:611451]	SWISS	110	COG4122	223718164,NP_001138781|223718159,NP_001138780
220074	226693615	Disease	p.Arg208Gln	VAR_047556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047556	- Deafness autosomal recessive type 63 (DFNB63) [MIM:611451]	SWISS	126	pfam01596	223718164,NP_001138781|223718159,NP_001138780
220074	226693615	Disease	p.Arg208Gln	VAR_047556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047556	- Deafness autosomal recessive type 63 (DFNB63) [MIM:611451]	SWISS	203	cd02440	223718164,NP_001138781|223718159,NP_001138780
220074	226693615	Disease	p.Arg208Gln	VAR_047556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047556	- Deafness autosomal recessive type 63 (DFNB63) [MIM:611451]	SWISS	154	COG4122	223718164,NP_001138781|223718159,NP_001138780
1130	76803797	Disease	p.Arg1563His	VAR_013556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013556	- Chediak-Higashi syndrome (CHS) [MIM:214500]	SWISS	No Domain	N/A	54292123,NP_000072
1130	76803797	Disease	p.Val1999Asp	VAR_013557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013557	rs28942077 Chediak-Higashi syndrome (CHS) [MIM:214500]	SWISS	No Domain	N/A	54292123,NP_000072
4069	48428995	Disease	p.Ile74Thr	VAR_004280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004280	- Amyloidosis type 8 (AMYL8) [MIM:105200]	SWISS	58	smart00263	4557894,NP_000230
4069	48428995	Disease	p.Ile74Thr	VAR_004280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004280	- Amyloidosis type 8 (AMYL8) [MIM:105200]	SWISS	56	pfam00062	4557894,NP_000230
4069	48428995	Disease	p.Ile74Thr	VAR_004280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004280	- Amyloidosis type 8 (AMYL8) [MIM:105200]	SWISS	57	cd00119	4557894,NP_000230
4069	48428995	Disease	p.Asp85His	VAR_004281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004281	- Amyloidosis type 8 (AMYL8) [MIM:105200]	SWISS	69	smart00263	4557894,NP_000230
4069	48428995	Disease	p.Asp85His	VAR_004281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004281	- Amyloidosis type 8 (AMYL8) [MIM:105200]	SWISS	67	pfam00062	4557894,NP_000230
4069	48428995	Disease	p.Asp85His	VAR_004281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004281	- Amyloidosis type 8 (AMYL8) [MIM:105200]	SWISS	68	cd00119	4557894,NP_000230
4094	223590080	Disease	p.Arg288Pro	VAR_029369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029369	- Cataract pulverulent juvenile-onset MAF-related (CAPJOM) [MIM:610202]	SWISS	32	pfam03131	73427806,NP_001026974
4094	223590080	Disease	p.Arg288Pro	VAR_029369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029369	- Cataract pulverulent juvenile-onset MAF-related (CAPJOM) [MIM:610202]	SWISS	5	smart00338	73427806,NP_001026974
4094	223590080	Disease	p.Lys297Arg	VAR_029370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029370	- Cataract congenital cerulean type 4 (CCA4) [MIM:610202]	SWISS	41	pfam03131	73427806,NP_001026974
4094	223590080	Disease	p.Lys297Arg	VAR_029370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029370	- Cataract congenital cerulean type 4 (CCA4) [MIM:610202]	SWISS	24	smart00338	73427806,NP_001026974
84061	74761391	Disease	p.Val311Gly	VAR_045837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045837	- Mental retardation X-linked type 95 (MRX95) [MIM:300716]	SWISS	178	pfam04756	NULL
4125	118574274	Disease	p.His72Leu	VAR_003338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003338	- Lysosomal alpha-mannosidosis (AM) [MIM:248500]	SWISS	9	pfam01074	51873064,NP_000519
4125	118574274	Disease	p.His200Leu	VAR_026412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026412	- Lysosomal alpha-mannosidosis (AM) [MIM:248500]	SWISS	145	pfam01074	51873064,NP_000519
4125	118574274	Disease	p.Thr355Pro	VAR_003342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003342	- Lysosomal alpha-mannosidosis (AM) [MIM:248500]	SWISS	349	pfam01074	51873064,NP_000519
4125	118574274	Disease	p.Pro356Arg	VAR_003343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003343	- Lysosomal alpha-mannosidosis (AM) [MIM:248500]	SWISS	350	pfam01074	51873064,NP_000519
4125	118574274	Disease	p.Glu402Lys	VAR_003344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003344	- Lysosomal alpha-mannosidosis (AM) [MIM:248500]	SWISS	25	smart00872	51873064,NP_000519
4125	118574274	Disease	p.Glu402Lys	VAR_003344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003344	- Lysosomal alpha-mannosidosis (AM) [MIM:248500]	SWISS	22	pfam09261	51873064,NP_000519
4125	118574274	Disease	p.Ser453Tyr	VAR_026413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026413	- Lysosomal alpha-mannosidosis (AM) [MIM:248500]	SWISS	154	smart00872	51873064,NP_000519
4125	118574274	Disease	p.Ser453Tyr	VAR_026413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026413	- Lysosomal alpha-mannosidosis (AM) [MIM:248500]	SWISS	121	pfam09261	51873064,NP_000519
4125	118574274	Disease	p.Trp714Arg	VAR_003346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003346	- Lysosomal alpha-mannosidosis (AM) [MIM:248500]	SWISS	327	pfam07748	51873064,NP_000519
4125	118574274	Disease	p.Arg750Trp	VAR_003347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003347	- Lysosomal alpha-mannosidosis (AM) [MIM:248500]	SWISS	387	pfam07748	51873064,NP_000519
4125	118574274	Disease	p.Gly801Asp	VAR_026414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026414	- Lysosomal alpha-mannosidosis (AM) [MIM:248500]	SWISS	460	pfam07748	51873064,NP_000519
4125	118574274	Disease	p.Leu809Pro	VAR_003348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003348	- Lysosomal alpha-mannosidosis (AM) [MIM:248500]	SWISS	479	pfam07748	51873064,NP_000519
5604	400274	Disease	p.Phe53Ser	VAR_035093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035093	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd05095	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	VAR_035093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035093	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	10	cd07876	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	VAR_035093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035093	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	24	cd05622	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	VAR_035093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035093	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	24	cd05596	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	VAR_035093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035093	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	24	cd05621	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	VAR_035093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035093	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd06639	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	VAR_035093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035093	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	3	cd07877	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	VAR_035093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035093	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	3	cd05091	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	VAR_035093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035093	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd06658	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	VAR_035093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035093	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd05097	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	VAR_035093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035093	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	10	cd07875	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	VAR_035093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035093	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	13	cd06659	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	VAR_035093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035093	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	cd06655	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	VAR_035093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035093	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	cd06656	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	VAR_035093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035093	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd06654	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	VAR_035093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035093	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	cd06614	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	VAR_035093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035093	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	cd06647	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	VAR_035093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035093	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	cd06648	5579478,NP_002746
5604	400274	Disease	p.Phe53Ser	VAR_035093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035093	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd06657	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd07859	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd05605	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05615	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05616	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	72	cd05587	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05583	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd05631	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd05630	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd07857	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	95	cd07834	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	77	cd07853	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd05632	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd05045	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	82	cd05122	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd06651	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05613	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	84	cd08528	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd06630	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd08223	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd08222	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd08219	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd08227	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd08221	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	80	cd07841	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd08529	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd07860	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd06627	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd07861	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd08530	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd06631	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	130	cd06606	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd08217	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd07839	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd05578	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd08220	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	84	cd08215	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd07836	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd08225	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05614	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	72	cd07832	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd08218	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd06628	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	160	cd07842	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd07863	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd05113	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd06643	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd06637	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	94	cd06608	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd05038	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd08229	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd08228	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd05083	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd05089	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05111	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd06616	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd05059	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd05114	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd05112	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	95	cd05033	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd05584	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd05582	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd05602	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	77	cd07838	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd07831	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	102	pfam00069	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd07829	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	298	smart00221	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd05118	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd07867	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	99	cd07830	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	72	cd05079	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd07835	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	92	cd07840	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	72	cd05080	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05081	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	220	smart00219	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	101	pfam07714	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd05589	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd07852	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05625	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	97	cd07854	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd05619	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd05588	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05084	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd05603	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05060	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd05592	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd05575	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	60	cd05041	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd05590	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	117	cd00192	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd05040	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd05058	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd05116	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	88	cd05095	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	86	cd07876	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	84	cd05053	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	82	cd07874	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	91	cd06635	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd05617	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd05618	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	63	cd05633	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd05586	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd05577	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05607	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd05606	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05608	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05585	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd05604	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	61	cd05579	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	64	cd05570	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	178	cd00180	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	61	cd05594	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	61	cd05571	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	61	cd05595	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd05620	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	108	cd05572	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd05044	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	100	cd05123	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd06632	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd06626	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	59	cd05085	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd05591	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	62	cd05047	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	61	cd05593	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	109	cd05622	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	109	cd05596	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	81	cd06634	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	81	cd06607	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd07873	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	72	cd07845	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd07872	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	72	cd07864	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05036	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd08216	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd08226	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	87	cd06633	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd06624	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	63	cd05611	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	109	cd05621	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	80	cd07880	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	80	cd07878	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	87	cd07851	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	80	cd06618	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	201	smart00220	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd07849	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd06652	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd06641	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd06640	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd06642	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05065	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd06653	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd06611	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	92	cd06639	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd07869	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd06613	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd07870	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd07871	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd07844	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	76	cd06612	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	82	cd07877	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd05091	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	72	cd06646	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	72	cd06645	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	85	cd06658	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05109	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd07866	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05110	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd05088	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd07856	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05108	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	124	cd05057	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd06644	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	79	cd06636	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	77_G	cd07865	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	85	cd05097	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	89	cd07875	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	366	COG0515	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05628	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd05600	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05609	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	79	cd06609	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd05598	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05626	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd06605	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	85	cd06623	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd08224	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	86	cd06619	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05627	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05612	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	88	cd07855	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05629	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd06917	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd06617	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05623	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	87	cd05574	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05624	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	87	cd07833	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	66	cd07847	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd06610	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd06625	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	118	cd05581	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd07843	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd07846	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	95	cd07848	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05597	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05601	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd07837	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	70	cd07862	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd06622	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd06621	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd06615	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	115	cd05580	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	121	cd05573	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	72	cd05599	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd06629	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	61	cd05115	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	84	cd06659	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	82	cd06655	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	82	cd06656	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	83	cd06654	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	94	cd06614	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	82	cd06647	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	82	cd06648	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	83	cd06657	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05061	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	102	cd05056	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd05148	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd06620	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05071	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	68	cd05052	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd05066	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	72	cd05064	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd05063	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd06649	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05048	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd05039	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd05093	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd05092	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd05050	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	74	cd05049	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05069	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	75	cd05062	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	69	cd06650	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05034	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd05090	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	65	cd05082	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	71	cd07858	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05067	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05072	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05068	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05070	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	67	cd05073	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	73	cd05094	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	106	cd05032	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	82	cd07850	5579478,NP_002746
5604	400274	Disease	p.Tyr130Cys	VAR_035094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035094	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	81	cd06638	5579478,NP_002746
5605	547915	Disease	p.Phe57Cys	VAR_035095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035095	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	24	cd05596	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	VAR_035095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035095	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	3	cd07877	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	VAR_035095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035095	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd05097	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	VAR_035095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035095	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd06652	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	VAR_035095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035095	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	10	cd07875	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	VAR_035095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035095	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	9	cd06659	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	VAR_035095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035095	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd07876	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	VAR_035095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035095	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	8	cd06657	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	VAR_035095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035095	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	24	cd05621	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	VAR_035095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035095	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	24	cd05622	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	VAR_035095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035095	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd06658	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	VAR_035095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035095	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	cd06656	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	VAR_035095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035095	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	cd06655	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	VAR_035095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035095	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	cd06647	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	VAR_035095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035095	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	12	cd06654	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	VAR_035095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035095	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	cd06648	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	VAR_035095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035095	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	11	cd06614	13489054,NP_109587
5605	547915	Disease	p.Phe57Cys	VAR_035095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035095	- Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]	SWISS	7	cd06639	13489054,NP_109587
9479	17433093	Disease	p.Ser59Asn	VAR_012243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012243	- Non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	No Domain	N/A	4885433,NP_005447
4137	13124806	Disease	p.Arg5His	VAR_019660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019660	- Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP17) [MIM:600274, 172700]	SWISS	No Domain	N/A	NULL
4137	13124806	Disease	p.Arg5Leu	VAR_019661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019661	- Progressive supranuclear palsy type 1 (PSNP1) [MIM:601104, 260540]	SWISS	No Domain	N/A	NULL
4137	13124806	Disease	p.Leu583Val	VAR_019662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019662	- Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP17) [MIM:600274, 172700]	SWISS	25	pfam00418	NULL
4137	13124806	Disease	p.Gly589Val	VAR_010345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010345	- Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP17) [MIM:600274, 172700]	SWISS	31	pfam00418	NULL
4137	13124806	Disease	p.Asn613His	VAR_019663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019663	- Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP17) [MIM:600274, 172700]	SWISS	24	pfam00418	NULL
4137	13124806	Disease	p.Pro618Leu	VAR_010348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010348	- Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP17) [MIM:600274, 172700]	SWISS	29	pfam00418	NULL
4137	13124806	Disease	p.Pro618Ser	VAR_010349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010349	- Corticobasal degeneration (CBD)	SWISS	29	pfam00418	NULL
4137	13124806	Disease	p.Pro618Ser	VAR_010349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010349	- Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP17) [MIM:600274, 172700]	SWISS	29	pfam00418	NULL
4137	13124806	Disease	p.Gly620Val	VAR_037439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037439	- Progressive supranuclear palsy type 1 (PSNP1) [MIM:601104, 260540]	SWISS	31	pfam00418	NULL
4137	13124806	Disease	p.Ser622Asn	VAR_010350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010350	- Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP17) [MIM:600274, 172700]	SWISS	No Domain	N/A	NULL
4137	13124806	Disease	p.Lys634Met	VAR_037440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037440	- Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP17) [MIM:600274, 172700]	SWISS	14	pfam00418	NULL
4137	13124806	Disease	p.Val654Met	VAR_010351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010351	- Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP17) [MIM:600274, 172700]	SWISS	No Domain	N/A	NULL
4137	13124806	Disease	p.Glu659Val	VAR_019666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019666	- Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP17) [MIM:600274, 172700]	SWISS	6	pfam00418	NULL
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	162	cd07838	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	212	cd07830	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	228	pfam00069	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	186	cd07840	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	163	cd07835	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	146	cd06629	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	562	smart00221	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	441	smart00219	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	310	pfam07714	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	137	cd05625	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	143	cd07831	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	137	cd05589	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	186	cd07829	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	145	cd05118	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	145	cd07858	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	169	cd05050	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	166	cd06652	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	147	cd06917	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	138	cd05598	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	138	cd05597	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	137	cd05612	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	159	cd05574	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	152	cd06622	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	193	cd05573	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	137	cd05628	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	137	cd05627	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	148	cd06610	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	190	cd05580	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	142	cd07847	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	142	cd06620	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	164	cd05038	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	163	cd07833	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	160	cd06609	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	304	cd05599	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	137	cd05609	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	137	cd05626	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	155	cd06605	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	138	cd05623	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	137	cd05629	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	138	cd06615	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	140	cd06650	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	252	cd05581	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	138	cd05600	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	138	cd05624	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	141	cd06617	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	141	cd05148	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	164	cd07855	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	137	cd07846	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	185	cd06623	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	139	cd05034	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	151	cd06612	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	152	cd06619	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	593	COG0515	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	137	cd06641	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	137	cd06640	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	137	cd06642	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	139	cd06643	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	140	cd06649	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	138	cd05601	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	142	cd06653	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	155	cd07837	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	144	cd05081	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	143	cd08224	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	142	cd08228	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	142	cd08229	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	147	cd06637	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	152	cd06648	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	151	cd06647	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	151	cd06655	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	178	cd05596	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	160	cd07865	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	151	cd06656	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	178	cd05621	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	178	cd05622	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	156	cd07850	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	154	cd07880	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	151	cd06634	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	141	cd05610	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	154	cd05036	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	154	cd06658	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	152	cd06657	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	170	cd07851	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	157	cd06636	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	160	cd06638	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	188	cd06614	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	153	cd06659	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	179	cd06608	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	160	cd05090	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	136	cd05114	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	142	cd06646	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	142	cd06645	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	157	cd07845	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	139	cd06630	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	131	cd05593	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	132	cd05603	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	132	cd05594	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	134	cd05570	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	132	cd05571	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	132	cd05602	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	131	cd05595	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	132	cd05617	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	132	cd05588	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	132	cd05591	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	132	cd05604	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	139	cd06626	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	140	cd05040	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	132	cd05618	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	142	cd06625	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	132	cd05590	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	345	cd00192	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	147	cd05620	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	132	cd05619	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	147	cd05592	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	132	cd05575	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	155	cd06632	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	146	cd05044	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	130	cd05084	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	131	cd05116	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	132	cd05041	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	146	cd06621	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	436	cd00180	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	132	cd05579	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	652	cd05123	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	133	cd05633	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	132	cd05586	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	133	cd05608	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	134	cd05606	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	129	cd05585	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	131	cd05607	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	204	cd05572	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	136	cd05577	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	171	cd06639	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	155	cd06618	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	134	cd05582	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	141	cd06611	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	133	cd05611	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	140	cd05584	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	207	cd08217	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	137	cd05615	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	226	cd06606	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	146	cd06627	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	137	cd08218	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	156	cd07832	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	179	cd07834	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	138	cd05630	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	141	cd05614	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	138	cd05605	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	153	cd07841	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	145	cd07857	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	142	cd06651	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	137	cd05578	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	141	cd05583	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	142	cd05587	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	137	cd05616	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	137	cd08225	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	136	cd08219	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	140	cd06631	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	138	cd05059	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	138	cd08223	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	138	cd08221	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	146	cd08220	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	143	cd08222	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	139	cd07836	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	138	cd07861	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	135	cd07839	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	147	cd07863	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	136	cd07860	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	196	cd08215	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	145	cd08530	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	144	cd06628	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	246	cd07842	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	159	cd08528	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	140	cd07853	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	142	cd08529	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	154	cd05613	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	138	cd05631	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	138	cd05632	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	171	cd05122	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	469	smart00220	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	150	cd06624	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	146	cd06644	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	161	cd06635	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	145	cd07852	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	136	cd05112	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	137	cd05113	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	139	cd07871	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	140	cd07844	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	154	cd07864	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	151	cd06616	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	142	cd05039	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	174	cd05033	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	163	cd05049	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	140	cd07873	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	139	cd06613	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	158	cd05092	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	154	cd07843	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	152	cd06654	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	139	cd07870	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	141	cd05068	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	136	cd05083	288806587,NP_001165774
84930	68565604	Disease	p.Glu167Asp	VAR_022838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022838	rs28941470 Thrombocytopenia type 2 (THC2) [MIM:188000]	SWISS	200	cd05032	288806587,NP_001165774
4143	417297	Disease	p.Ser38Asn	VAR_031242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031242	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	21	pfam00438	4557737,NP_000420
4143	417297	Disease	p.Ser38Asn	VAR_031242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031242	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	25	COG0192	4557737,NP_000420
4143	417297	Disease	p.Ala55Asp	VAR_006935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006935	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	63	pfam00438	4557737,NP_000420
4143	417297	Disease	p.Ala55Asp	VAR_006935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006935	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	49	COG0192	4557737,NP_000420
4143	417297	Disease	p.Arg199Cys	VAR_006936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006936	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	111	pfam02772	4557737,NP_000420
4143	417297	Disease	p.Arg199Cys	VAR_006936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006936	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	240	COG0192	4557737,NP_000420
4143	417297	Disease	p.Arg264Cys	VAR_031243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031243	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	13	pfam02773	4557737,NP_000420
4143	417297	Disease	p.Arg264Cys	VAR_031243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031243	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	317	COG0192	4557737,NP_000420
4143	417297	Disease	p.Arg264His	VAR_006937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006937	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	13	pfam02773	4557737,NP_000420
4143	417297	Disease	p.Arg264His	VAR_006937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006937	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	317	COG0192	4557737,NP_000420
4143	417297	Disease	p.Leu305Pro	VAR_006938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006938	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	54	pfam02773	4557737,NP_000420
4143	417297	Disease	p.Leu305Pro	VAR_006938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006938	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	358	COG0192	4557737,NP_000420
4143	417297	Disease	p.Ile322Met	VAR_006939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006939	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	71	pfam02773	4557737,NP_000420
4143	417297	Disease	p.Ile322Met	VAR_006939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006939	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	375	COG0192	4557737,NP_000420
4143	417297	Disease	p.Gly336Arg	VAR_031244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031244	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	85	pfam02773	4557737,NP_000420
4143	417297	Disease	p.Gly336Arg	VAR_031244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031244	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	389	COG0192	4557737,NP_000420
4143	417297	Disease	p.Glu344Ala	VAR_031245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031245	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	95	pfam02773	4557737,NP_000420
4143	417297	Disease	p.Glu344Ala	VAR_031245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031245	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	399	COG0192	4557737,NP_000420
4143	417297	Disease	p.Arg356Gln	VAR_006940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006940	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	107	pfam02773	4557737,NP_000420
4143	417297	Disease	p.Arg356Gln	VAR_006940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006940	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	412	COG0192	4557737,NP_000420
4143	417297	Disease	p.Pro357Leu	VAR_006941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006941	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	108	pfam02773	4557737,NP_000420
4143	417297	Disease	p.Pro357Leu	VAR_006941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006941	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	413	COG0192	4557737,NP_000420
4143	417297	Disease	p.Gly378Ser	VAR_006942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006942	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	132	pfam02773	4557737,NP_000420
4143	417297	Disease	p.Gly378Ser	VAR_006942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006942	- Methionine adenosyltransferase deficiency (MATD) [MIM:250850]	SWISS	441	COG0192	4557737,NP_000420
4148	14548113	Disease	p.Arg70His	VAR_054807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054807	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	No Domain	N/A	11321565,NP_002372
4148	14548113	Disease	p.Phe105Ser	VAR_020844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020844	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	26	cd01475	11321565,NP_002372
4148	14548113	Disease	p.Phe105Ser	VAR_020844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020844	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	32	cd01480	11321565,NP_002372
4148	14548113	Disease	p.Phe105Ser	VAR_020844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020844	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	31	cd01474	11321565,NP_002372
4148	14548113	Disease	p.Phe105Ser	VAR_020844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020844	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	25	cd01471	11321565,NP_002372
4148	14548113	Disease	p.Phe105Ser	VAR_020844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020844	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	35	cd00198	11321565,NP_002372
4148	14548113	Disease	p.Phe105Ser	VAR_020844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020844	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	36	cd01450	11321565,NP_002372
4148	14548113	Disease	p.Phe105Ser	VAR_020844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020844	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	24	cd01469	11321565,NP_002372
4148	14548113	Disease	p.Phe105Ser	VAR_020844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020844	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	23	cd01476	11321565,NP_002372
4148	14548113	Disease	p.Phe105Ser	VAR_020844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020844	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	30	cd01472	11321565,NP_002372
4148	14548113	Disease	p.Phe105Ser	VAR_020844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020844	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	24	cd01481	11321565,NP_002372
4148	14548113	Disease	p.Phe105Ser	VAR_020844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020844	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	25	cd01473	11321565,NP_002372
4148	14548113	Disease	p.Phe105Ser	VAR_020844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020844	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	25	cd01465	11321565,NP_002372
4148	14548113	Disease	p.Phe105Ser	VAR_020844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020844	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	25	cd01482	11321565,NP_002372
4148	14548113	Disease	p.Phe105Ser	VAR_020844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020844	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	34	pfam00092	11321565,NP_002372
4148	14548113	Disease	p.Phe105Ser	VAR_020844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020844	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	72	smart00327	11321565,NP_002372
4148	14548113	Disease	p.Thr120Met	VAR_019882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019882	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	41	cd01475	11321565,NP_002372
4148	14548113	Disease	p.Thr120Met	VAR_019882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019882	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	60	cd01480	11321565,NP_002372
4148	14548113	Disease	p.Thr120Met	VAR_019882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019882	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	47	cd01474	11321565,NP_002372
4148	14548113	Disease	p.Thr120Met	VAR_019882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019882	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	40	cd01471	11321565,NP_002372
4148	14548113	Disease	p.Thr120Met	VAR_019882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019882	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	63	cd00198	11321565,NP_002372
4148	14548113	Disease	p.Thr120Met	VAR_019882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019882	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	64	cd01450	11321565,NP_002372
4148	14548113	Disease	p.Thr120Met	VAR_019882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019882	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	39	cd01469	11321565,NP_002372
4148	14548113	Disease	p.Thr120Met	VAR_019882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019882	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	39	cd01476	11321565,NP_002372
4148	14548113	Disease	p.Thr120Met	VAR_019882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019882	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	58	cd01472	11321565,NP_002372
4148	14548113	Disease	p.Thr120Met	VAR_019882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019882	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	39	cd01481	11321565,NP_002372
4148	14548113	Disease	p.Thr120Met	VAR_019882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019882	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	40	cd01473	11321565,NP_002372
4148	14548113	Disease	p.Thr120Met	VAR_019882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019882	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	37	cd01465	11321565,NP_002372
4148	14548113	Disease	p.Thr120Met	VAR_019882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019882	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	42	cd01482	11321565,NP_002372
4148	14548113	Disease	p.Thr120Met	VAR_019882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019882	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	57	pfam00092	11321565,NP_002372
4148	14548113	Disease	p.Thr120Met	VAR_019882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019882	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	127	smart00327	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	VAR_013691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013691	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	42	cd01475	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	VAR_013691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013691	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	61	cd01480	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	VAR_013691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013691	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	48	cd01474	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	VAR_013691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013691	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	41	cd01471	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	VAR_013691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013691	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	64	cd00198	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	VAR_013691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013691	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	65	cd01450	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	VAR_013691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013691	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	40	cd01469	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	VAR_013691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013691	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	40	cd01476	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	VAR_013691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013691	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	59	cd01472	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	VAR_013691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013691	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	40	cd01481	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	VAR_013691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013691	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	41	cd01473	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	VAR_013691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013691	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	38	cd01465	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	VAR_013691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013691	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	43	cd01482	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	VAR_013691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013691	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	58	pfam00092	11321565,NP_002372
4148	14548113	Disease	p.Arg121Trp	VAR_013691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013691	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	128	smart00327	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	VAR_019883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019883	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	49	cd01475	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	VAR_019883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019883	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	68	cd01480	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	VAR_019883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019883	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	55	cd01474	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	VAR_019883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019883	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	48	cd01471	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	VAR_019883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019883	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	71	cd00198	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	VAR_019883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019883	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	72	cd01450	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	VAR_019883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019883	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	47	cd01469	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	VAR_019883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019883	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	47	cd01476	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	VAR_019883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019883	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	66	cd01472	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	VAR_019883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019883	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	47	cd01481	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	VAR_019883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019883	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	48	cd01473	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	VAR_019883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019883	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	45	cd01465	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	VAR_019883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019883	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	50	cd01482	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	VAR_019883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019883	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	65	pfam00092	11321565,NP_002372
4148	14548113	Disease	p.Ala128Pro	VAR_019883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019883	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	142	smart00327	11321565,NP_002372
4148	14548113	Disease	p.Glu134Lys	VAR_019884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019884	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	55	cd01475	11321565,NP_002372
4148	14548113	Disease	p.Glu134Lys	VAR_019884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019884	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	76	cd01480	11321565,NP_002372
4148	14548113	Disease	p.Glu134Lys	VAR_019884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019884	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	61	cd01474	11321565,NP_002372
4148	14548113	Disease	p.Glu134Lys	VAR_019884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019884	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	54	cd01471	11321565,NP_002372
4148	14548113	Disease	p.Glu134Lys	VAR_019884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019884	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	88	cd00198	11321565,NP_002372
4148	14548113	Disease	p.Glu134Lys	VAR_019884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019884	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	88	cd01450	11321565,NP_002372
4148	14548113	Disease	p.Glu134Lys	VAR_019884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019884	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	53	cd01469	11321565,NP_002372
4148	14548113	Disease	p.Glu134Lys	VAR_019884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019884	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	57	cd01476	11321565,NP_002372
4148	14548113	Disease	p.Glu134Lys	VAR_019884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019884	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	74	cd01472	11321565,NP_002372
4148	14548113	Disease	p.Glu134Lys	VAR_019884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019884	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	53	cd01481	11321565,NP_002372
4148	14548113	Disease	p.Glu134Lys	VAR_019884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019884	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	56	cd01473	11321565,NP_002372
4148	14548113	Disease	p.Glu134Lys	VAR_019884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019884	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	51	cd01465	11321565,NP_002372
4148	14548113	Disease	p.Glu134Lys	VAR_019884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019884	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	56	cd01482	11321565,NP_002372
4148	14548113	Disease	p.Glu134Lys	VAR_019884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019884	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	83	pfam00092	11321565,NP_002372
4148	14548113	Disease	p.Glu134Lys	VAR_019884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019884	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	165	smart00327	11321565,NP_002372
4148	14548113	Disease	p.Ile192Asn	VAR_019885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019885	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	113	cd01475	11321565,NP_002372
4148	14548113	Disease	p.Ile192Asn	VAR_019885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019885	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	146	cd01480	11321565,NP_002372
4148	14548113	Disease	p.Ile192Asn	VAR_019885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019885	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	120	cd01474	11321565,NP_002372
4148	14548113	Disease	p.Ile192Asn	VAR_019885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019885	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	114	cd01471	11321565,NP_002372
4148	14548113	Disease	p.Ile192Asn	VAR_019885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019885	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	219	cd00198	11321565,NP_002372
4148	14548113	Disease	p.Ile192Asn	VAR_019885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019885	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	181	cd01450	11321565,NP_002372
4148	14548113	Disease	p.Ile192Asn	VAR_019885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019885	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	109	cd01469	11321565,NP_002372
4148	14548113	Disease	p.Ile192Asn	VAR_019885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019885	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	117	cd01476	11321565,NP_002372
4148	14548113	Disease	p.Ile192Asn	VAR_019885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019885	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	145	cd01472	11321565,NP_002372
4148	14548113	Disease	p.Ile192Asn	VAR_019885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019885	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	111	cd01481	11321565,NP_002372
4148	14548113	Disease	p.Ile192Asn	VAR_019885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019885	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	113	cd01473	11321565,NP_002372
4148	14548113	Disease	p.Ile192Asn	VAR_019885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019885	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	106	cd01465	11321565,NP_002372
4148	14548113	Disease	p.Ile192Asn	VAR_019885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019885	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	114	cd01482	11321565,NP_002372
4148	14548113	Disease	p.Ile192Asn	VAR_019885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019885	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	164	pfam00092	11321565,NP_002372
4148	14548113	Disease	p.Ile192Asn	VAR_019885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019885	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	391	smart00327	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	VAR_013692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013692	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	115	cd01475	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	VAR_013692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013692	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	148	cd01480	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	VAR_013692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013692	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	122	cd01474	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	VAR_013692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013692	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	116	cd01471	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	VAR_013692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013692	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	221	cd00198	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	VAR_013692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013692	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	183	cd01450	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	VAR_013692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013692	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	111	cd01469	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	VAR_013692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013692	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	119	cd01476	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	VAR_013692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013692	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	147	cd01472	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	VAR_013692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013692	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	113	cd01481	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	VAR_013692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013692	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	115	cd01473	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	VAR_013692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013692	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	108	cd01465	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	VAR_013692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013692	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	116	cd01482	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	VAR_013692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013692	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	166	pfam00092	11321565,NP_002372
4148	14548113	Disease	p.Val194Asp	VAR_013692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013692	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	395	smart00327	11321565,NP_002372
4148	14548113	Disease	p.Thr195Lys	VAR_054808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054808	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	116	cd01475	11321565,NP_002372
4148	14548113	Disease	p.Thr195Lys	VAR_054808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054808	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	149	cd01480	11321565,NP_002372
4148	14548113	Disease	p.Thr195Lys	VAR_054808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054808	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	123	cd01474	11321565,NP_002372
4148	14548113	Disease	p.Thr195Lys	VAR_054808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054808	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	117	cd01471	11321565,NP_002372
4148	14548113	Disease	p.Thr195Lys	VAR_054808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054808	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	222	cd00198	11321565,NP_002372
4148	14548113	Disease	p.Thr195Lys	VAR_054808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054808	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	184	cd01450	11321565,NP_002372
4148	14548113	Disease	p.Thr195Lys	VAR_054808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054808	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	112	cd01469	11321565,NP_002372
4148	14548113	Disease	p.Thr195Lys	VAR_054808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054808	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	120	cd01476	11321565,NP_002372
4148	14548113	Disease	p.Thr195Lys	VAR_054808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054808	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	148	cd01472	11321565,NP_002372
4148	14548113	Disease	p.Thr195Lys	VAR_054808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054808	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	114	cd01481	11321565,NP_002372
4148	14548113	Disease	p.Thr195Lys	VAR_054808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054808	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	116	cd01473	11321565,NP_002372
4148	14548113	Disease	p.Thr195Lys	VAR_054808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054808	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	109	cd01465	11321565,NP_002372
4148	14548113	Disease	p.Thr195Lys	VAR_054808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054808	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	117	cd01482	11321565,NP_002372
4148	14548113	Disease	p.Thr195Lys	VAR_054808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054808	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	167	pfam00092	11321565,NP_002372
4148	14548113	Disease	p.Thr195Lys	VAR_054808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054808	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	396	smart00327	11321565,NP_002372
4148	14548113	Disease	p.Tyr218Asn	VAR_054809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054809	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	139	cd01475	11321565,NP_002372
4148	14548113	Disease	p.Tyr218Asn	VAR_054809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054809	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	183	cd01480	11321565,NP_002372
4148	14548113	Disease	p.Tyr218Asn	VAR_054809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054809	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	150	cd01474	11321565,NP_002372
4148	14548113	Disease	p.Tyr218Asn	VAR_054809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054809	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	144	cd01471	11321565,NP_002372
4148	14548113	Disease	p.Tyr218Asn	VAR_054809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054809	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	287	cd00198	11321565,NP_002372
4148	14548113	Disease	p.Tyr218Asn	VAR_054809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054809	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	240	cd01450	11321565,NP_002372
4148	14548113	Disease	p.Tyr218Asn	VAR_054809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054809	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	138	cd01469	11321565,NP_002372
4148	14548113	Disease	p.Tyr218Asn	VAR_054809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054809	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	147	cd01476	11321565,NP_002372
4148	14548113	Disease	p.Tyr218Asn	VAR_054809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054809	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	182	cd01472	11321565,NP_002372
4148	14548113	Disease	p.Tyr218Asn	VAR_054809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054809	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	137	cd01481	11321565,NP_002372
4148	14548113	Disease	p.Tyr218Asn	VAR_054809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054809	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	143	cd01473	11321565,NP_002372
4148	14548113	Disease	p.Tyr218Asn	VAR_054809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054809	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	139	cd01465	11321565,NP_002372
4148	14548113	Disease	p.Tyr218Asn	VAR_054809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054809	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	140	cd01482	11321565,NP_002372
4148	14548113	Disease	p.Tyr218Asn	VAR_054809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054809	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	213	pfam00092	11321565,NP_002372
4148	14548113	Disease	p.Tyr218Asn	VAR_054809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054809	- Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	529	smart00327	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	VAR_019886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019886	rs28939677 Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	140	cd01475	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	VAR_019886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019886	rs28939677 Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	184	cd01480	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	VAR_019886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019886	rs28939677 Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	151	cd01474	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	VAR_019886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019886	rs28939677 Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	145	cd01471	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	VAR_019886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019886	rs28939677 Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	288	cd00198	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	VAR_019886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019886	rs28939677 Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	241	cd01450	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	VAR_019886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019886	rs28939677 Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	139	cd01469	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	VAR_019886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019886	rs28939677 Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	148	cd01476	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	VAR_019886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019886	rs28939677 Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	183	cd01472	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	VAR_019886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019886	rs28939677 Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	138	cd01481	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	VAR_019886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019886	rs28939677 Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	144	cd01473	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	VAR_019886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019886	rs28939677 Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	140	cd01465	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	VAR_019886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019886	rs28939677 Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	141	cd01482	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	VAR_019886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019886	rs28939677 Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	214	pfam00092	11321565,NP_002372
4148	14548113	Disease	p.Ala219Asp	VAR_019886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019886	rs28939677 Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]	SWISS	530	smart00327	11321565,NP_002372
4148	14548113	Disease	p.Cys304Ser	VAR_019888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019888	- Spondyloepimetaphyseal dysplasia MATN3-related (SEMD-MATN3) [MIM:608728]	SWISS	82	smart00181	11321565,NP_002372
4148	14548113	Disease	p.Cys304Ser	VAR_019888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019888	- Spondyloepimetaphyseal dysplasia MATN3-related (SEMD-MATN3) [MIM:608728]	SWISS	85	cd00053	11321565,NP_002372
4148	14548113	Disease	p.Cys304Ser	VAR_019888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019888	- Spondyloepimetaphyseal dysplasia MATN3-related (SEMD-MATN3) [MIM:608728]	SWISS	83	smart00179	11321565,NP_002372
4148	14548113	Disease	p.Cys304Ser	VAR_019888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019888	- Spondyloepimetaphyseal dysplasia MATN3-related (SEMD-MATN3) [MIM:608728]	SWISS	89	cd00054	11321565,NP_002372
9782	12643409	Disease	p.Ser85Cys	VAR_063421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063421	- Myopathy distal type 2 (MPD2) [MIM:606070]	SWISS	No Domain	N/A	62750354,NP_954659|21626466,NP_061322|303227926,NP_001181884|303227924,NP_001181883
51360	6016601	Disease	p.Met87Ile	VAR_063054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063054	- Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]	SWISS	82	cd06162	7706693,NP_056968
51360	6016601	Disease	p.Met87Ile	VAR_063054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063054	- Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]	SWISS	80	cd06159	7706693,NP_056968
51360	6016601	Disease	p.Trp226Leu	VAR_063055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063055	- Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]	SWISS	188	pfam02163	7706693,NP_056968
51360	6016601	Disease	p.Trp226Leu	VAR_063055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063055	- Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]	SWISS	204	cd05709	7706693,NP_056968
51360	6016601	Disease	p.Trp226Leu	VAR_063055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063055	- Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]	SWISS	223	cd06162	7706693,NP_056968
51360	6016601	Disease	p.Trp226Leu	VAR_063055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063055	- Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]	SWISS	255	cd06159	7706693,NP_056968
51360	6016601	Disease	p.His227Leu	VAR_063056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063056	- Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]	SWISS	189	pfam02163	7706693,NP_056968
51360	6016601	Disease	p.His227Leu	VAR_063056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063056	- Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]	SWISS	205	cd05709	7706693,NP_056968
51360	6016601	Disease	p.His227Leu	VAR_063056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063056	- Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]	SWISS	224	cd06162	7706693,NP_056968
51360	6016601	Disease	p.His227Leu	VAR_063056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063056	- Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]	SWISS	256	cd06159	7706693,NP_056968
51360	6016601	Disease	p.Arg429His	VAR_063057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063057	- Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]	SWISS	613	pfam02163	7706693,NP_056968
51360	6016601	Disease	p.Arg429His	VAR_063057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063057	- Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]	SWISS	664	cd05709	7706693,NP_056968
51360	6016601	Disease	p.Arg429His	VAR_063057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063057	- Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]	SWISS	433	cd06162	7706693,NP_056968
51360	6016601	Disease	p.Arg429His	VAR_063057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063057	- Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]	SWISS	583	cd06159	7706693,NP_056968
51360	6016601	Disease	p.Phe475Ser	VAR_063058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063058	- Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]	SWISS	659	pfam02163	7706693,NP_056968
51360	6016601	Disease	p.Phe475Ser	VAR_063058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063058	- Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]	SWISS	710	cd05709	7706693,NP_056968
51360	6016601	Disease	p.Phe475Ser	VAR_063058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063058	- Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]	SWISS	479	cd06162	7706693,NP_056968
51360	6016601	Disease	p.Phe475Ser	VAR_063058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063058	- Ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]	SWISS	628	cd06159	7706693,NP_056968
4158	399002	Disease	p.Ser74Ile	VAR_003510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003510	- Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]	SWISS	40	pfam10320	4505127,NP_000520
4158	399002	Disease	p.Ser74Ile	VAR_003510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003510	- Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]	SWISS	32	pfam00001	4505127,NP_000520
4158	399002	Disease	p.Asp103Asn	VAR_010702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010702	- Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]	SWISS	59_G	pfam10320	4505127,NP_000520
4158	399002	Disease	p.Asp103Asn	VAR_010702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010702	- Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]	SWISS	67	pfam00001	4505127,NP_000520
4158	399002	Disease	p.Asp107Asn	VAR_015095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015095	- Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]	SWISS	60	pfam10320	4505127,NP_000520
4158	399002	Disease	p.Asp107Asn	VAR_015095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015095	- Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]	SWISS	71	pfam00001	4505127,NP_000520
4158	399002	Disease	p.Ser120Arg	VAR_003511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003511	- Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]	SWISS	73	pfam10320	4505127,NP_000520
4158	399002	Disease	p.Ser120Arg	VAR_003511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003511	- Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]	SWISS	84	pfam00001	4505127,NP_000520
4158	399002	Disease	p.Arg128Cys	VAR_003512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003512	- Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]	SWISS	87	pfam10320	4505127,NP_000520
4158	399002	Disease	p.Arg128Cys	VAR_003512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003512	- Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]	SWISS	92	pfam00001	4505127,NP_000520
4158	399002	Disease	p.Arg137Trp	VAR_010703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010703	- Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]	SWISS	96	pfam10320	4505127,NP_000520
4158	399002	Disease	p.Arg137Trp	VAR_010703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010703	- Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]	SWISS	101	pfam00001	4505127,NP_000520
4158	399002	Disease	p.Arg146His	VAR_003513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003513	- Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]	SWISS	109	pfam10320	4505127,NP_000520
4158	399002	Disease	p.Arg146His	VAR_003513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003513	- Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]	SWISS	112	pfam00001	4505127,NP_000520
4158	399002	Disease	p.Cys251Phe	VAR_015096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015096	- Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]	SWISS	246	pfam10320	4505127,NP_000520
4158	399002	Disease	p.Cys251Phe	VAR_015096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015096	- Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]	SWISS	405	pfam00001	4505127,NP_000520
4158	399002	Disease	p.Tyr254Cys	VAR_015295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015295	rs28940892 Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]	SWISS	249	pfam10320	4505127,NP_000520
4158	399002	Disease	p.Tyr254Cys	VAR_015295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015295	rs28940892 Glucocorticoid deficiency type 1 (GCCD1) [MIM:202200]	SWISS	408	pfam00001	4505127,NP_000520
56922	108861983	Disease	p.Ala289Val	VAR_012785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012785	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	128	pfam02222	116805327,NP_064551
56922	108861983	Disease	p.Ala289Val	VAR_012785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012785	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	243	COG4770	116805327,NP_064551
56922	108861983	Disease	p.Ala289Val	VAR_012785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012785	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	311	COG0439	116805327,NP_064551
56922	108861983	Disease	p.Ala289Val	VAR_012785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012785	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	131	pfam02786	116805327,NP_064551
56922	108861983	Disease	p.Ala289Val	VAR_012785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012785	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	146_G	pfam08443	116805327,NP_064551
56922	108861983	Disease	p.Ala289Val	VAR_012785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012785	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	331	COG1181	116805327,NP_064551
56922	108861983	Disease	p.Ala289Val	VAR_012785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012785	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	137	pfam07478	116805327,NP_064551
56922	108861983	Disease	p.Ala289Val	VAR_012785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012785	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	305	COG0458	116805327,NP_064551
56922	108861983	Disease	p.Ala289Val	VAR_012785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012785	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	254	COG1038	116805327,NP_064551
56922	108861983	Disease	p.Met325Arg	VAR_012786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012786	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	168	pfam02222	116805327,NP_064551
56922	108861983	Disease	p.Met325Arg	VAR_012786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012786	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	279	COG4770	116805327,NP_064551
56922	108861983	Disease	p.Met325Arg	VAR_012786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012786	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	352	COG0439	116805327,NP_064551
56922	108861983	Disease	p.Met325Arg	VAR_012786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012786	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	168	pfam02786	116805327,NP_064551
56922	108861983	Disease	p.Met325Arg	VAR_012786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012786	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	173	pfam08443	116805327,NP_064551
56922	108861983	Disease	p.Met325Arg	VAR_012786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012786	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	367	COG1181	116805327,NP_064551
56922	108861983	Disease	p.Met325Arg	VAR_012786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012786	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	177	pfam07478	116805327,NP_064551
56922	108861983	Disease	p.Met325Arg	VAR_012786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012786	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	345	COG0458	116805327,NP_064551
56922	108861983	Disease	p.Met325Arg	VAR_012786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012786	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	290	COG1038	116805327,NP_064551
56922	108861983	Disease	p.Arg385Ser	VAR_012787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012787	rs28934881 Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	351	COG4770	116805327,NP_064551
56922	108861983	Disease	p.Arg385Ser	VAR_012787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012787	rs28934881 Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	461	COG0439	116805327,NP_064551
56922	108861983	Disease	p.Arg385Ser	VAR_012787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012787	rs28934881 Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	3	pfam02785	116805327,NP_064551
56922	108861983	Disease	p.Arg385Ser	VAR_012787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012787	rs28934881 Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	3	smart00878	116805327,NP_064551
56922	108861983	Disease	p.Arg385Ser	VAR_012787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012787	rs28934881 Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	428	COG0458	116805327,NP_064551
56922	108861983	Disease	p.Arg385Ser	VAR_012787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012787	rs28934881 Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	357	COG1038	116805327,NP_064551
56922	108861983	Disease	p.Leu437Pro	VAR_012788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012788	rs28934882 Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	417	COG4770	116805327,NP_064551
56922	108861983	Disease	p.Leu437Pro	VAR_012788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012788	rs28934882 Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	526	COG0439	116805327,NP_064551
56922	108861983	Disease	p.Leu437Pro	VAR_012788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012788	rs28934882 Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	105	pfam02785	116805327,NP_064551
56922	108861983	Disease	p.Leu437Pro	VAR_012788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012788	rs28934882 Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	194	smart00878	116805327,NP_064551
56922	108861983	Disease	p.Leu437Pro	VAR_012788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012788	rs28934882 Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	484	COG0458	116805327,NP_064551
56922	108861983	Disease	p.Leu437Pro	VAR_012788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012788	rs28934882 Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	409	COG1038	116805327,NP_064551
56922	108861983	Disease	p.Asp532His	VAR_012790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012790	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	511	COG4770	116805327,NP_064551
56922	108861983	Disease	p.Asp532His	VAR_012790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012790	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	650	COG1038	116805327,NP_064551
56922	108861983	Disease	p.Ser535Phe	VAR_012791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012791	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	514	COG4770	116805327,NP_064551
56922	108861983	Disease	p.Ser535Phe	VAR_012791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012791	- Methylcrotonoyl-CoA carboxylase deficiency type 1 (MCC1 deficiency) [MIM:210200]	SWISS	653	COG1038	116805327,NP_064551
64087	20138731	Disease	p.Glu99Gln	VAR_012792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012792	rs28934883 Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	SWISS	26	pfam01039	11545863,NP_071415
64087	20138731	Disease	p.Glu99Gln	VAR_012792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012792	rs28934883 Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	SWISS	69	COG4799	11545863,NP_071415
64087	20138731	Disease	p.Arg155Gln	VAR_012793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012793	- Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	SWISS	91	pfam01039	11545863,NP_071415
64087	20138731	Disease	p.Arg155Gln	VAR_012793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012793	- Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	SWISS	143	COG4799	11545863,NP_071415
64087	20138731	Disease	p.Cys167Arg	VAR_012794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012794	rs28934884 Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	SWISS	118	pfam01039	11545863,NP_071415
64087	20138731	Disease	p.Cys167Arg	VAR_012794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012794	rs28934884 Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	SWISS	155	COG4799	11545863,NP_071415
64087	20138731	Disease	p.Ser173Leu	VAR_012795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012795	- Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	SWISS	124	pfam01039	11545863,NP_071415
64087	20138731	Disease	p.Ser173Leu	VAR_012795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012795	- Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	SWISS	161	COG4799	11545863,NP_071415
64087	20138731	Disease	p.Arg193Cys	VAR_012796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012796	- Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	SWISS	144	pfam01039	11545863,NP_071415
64087	20138731	Disease	p.Arg193Cys	VAR_012796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012796	- Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	SWISS	182	COG4799	11545863,NP_071415
64087	20138731	Disease	p.Ala218Thr	VAR_012797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012797	- Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	SWISS	169	pfam01039	11545863,NP_071415
64087	20138731	Disease	p.Ala218Thr	VAR_012797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012797	- Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	SWISS	207	COG4799	11545863,NP_071415
64087	20138731	Disease	p.Arg268Thr	VAR_012798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012798	- Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	SWISS	236	pfam01039	11545863,NP_071415
64087	20138731	Disease	p.Arg268Thr	VAR_012798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012798	- Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	SWISS	273	COG4799	11545863,NP_071415
64087	20138731	Disease	p.Pro310Arg	VAR_012799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012799	- Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	SWISS	286	pfam01039	11545863,NP_071415
64087	20138731	Disease	p.Pro310Arg	VAR_012799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012799	- Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	SWISS	325	COG4799	11545863,NP_071415
64087	20138731	Disease	p.Val339Met	VAR_012800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012800	- Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	SWISS	323	pfam01039	11545863,NP_071415
64087	20138731	Disease	p.Val339Met	VAR_012800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012800	- Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	SWISS	355	COG4799	11545863,NP_071415
64087	20138731	Disease	p.Ile437Val	VAR_012801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012801	- Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	SWISS	461	pfam01039	11545863,NP_071415
64087	20138731	Disease	p.Ile437Val	VAR_012801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012801	- Methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]	SWISS	485	COG4799	11545863,NP_071415
90411	49036425	Disease	p.Asp129Glu	VAR_019076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019076	rs28942113 Factor V and factor VIII combined deficiency (F5F8D) [MIM:227300]	SWISS	64	cd00051	284005455,NP_001164978|284005451,NP_001164977|21281683,NP_644808|284005457,NP_001164979
90411	49036425	Disease	p.Ile136Thr	VAR_019077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019077	rs28942114 Factor V and factor VIII combined deficiency (F5F8D) [MIM:227300]	SWISS	71	cd00051	284005455,NP_001164978|284005451,NP_001164977|21281683,NP_644808|284005457,NP_001164979
57192	50401163	Disease	p.Leu106Pro	VAR_019369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019369	- Mucolipidosis type IV (MLIV) [MIM:252650]	SWISS	No Domain	N/A	10092597,NP_065394
57192	50401163	Disease	p.Thr232Pro	VAR_019370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019370	- Mucolipidosis type IV (MLIV) [MIM:252650]	SWISS	No Domain	N/A	10092597,NP_065394
57192	50401163	Disease	p.Asp362Tyr	VAR_019371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019371	- Mucolipidosis type IV (MLIV) [MIM:252650]	SWISS	No Domain	N/A	10092597,NP_065394
57192	50401163	Disease	p.Arg403Cys	VAR_038380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038380	- Mucolipidosis type IV (MLIV) [MIM:252650]	SWISS	No Domain	N/A	10092597,NP_065394
57192	50401163	Disease	p.Val446Leu	VAR_019373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019373	- Mucolipidosis type IV (MLIV) [MIM:252650]	SWISS	No Domain	N/A	10092597,NP_065394
57192	50401163	Disease	p.Leu447Pro	VAR_019374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019374	- Mucolipidosis type IV (MLIV) [MIM:252650]	SWISS	No Domain	N/A	10092597,NP_065394
57192	50401163	Disease	p.Phe465Leu	VAR_019375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019375	- Mucolipidosis type IV (MLIV) [MIM:252650]	SWISS	No Domain	N/A	10092597,NP_065394
79648	296439305	Disease	p.Thr27Arg	VAR_046745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046745	- Microcephaly primary type 1 (MCPH1) [MIM:251200]	SWISS	43	smart00292	NULL
79648	296439305	Disease	p.Thr27Arg	VAR_046745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046745	- Microcephaly primary type 1 (MCPH1) [MIM:251200]	SWISS	30	pfam00533	NULL
4204	1708973	Disease	p.Glu10Gln	VAR_018180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018180	- Rett syndrome (RTT) [MIM:312750]	SWISS	No Domain	N/A	4826830,NP_004983
4204	1708973	Disease	p.Asp97Glu	VAR_023552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023552	- Rett syndrome (RTT) [MIM:312750]	SWISS	6	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Asp97Glu	VAR_023552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023552	- Rett syndrome (RTT) [MIM:312750]	SWISS	4	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Asp97Glu	VAR_023552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023552	- Rett syndrome (RTT) [MIM:312750]	SWISS	4	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Asp97Glu	VAR_023552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023552	- Rett syndrome (RTT) [MIM:312750]	SWISS	7	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Asp97Tyr	VAR_018182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018182	- Rett syndrome (RTT) [MIM:312750]	SWISS	6	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Asp97Tyr	VAR_018182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018182	- Rett syndrome (RTT) [MIM:312750]	SWISS	4	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Asp97Tyr	VAR_018182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018182	- Rett syndrome (RTT) [MIM:312750]	SWISS	4	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Asp97Tyr	VAR_018182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018182	- Rett syndrome (RTT) [MIM:312750]	SWISS	7	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Leu100Arg	VAR_023553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023553	- Rett syndrome (RTT) [MIM:312750]	SWISS	9	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Leu100Arg	VAR_023553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023553	- Rett syndrome (RTT) [MIM:312750]	SWISS	9	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Leu100Arg	VAR_023553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023553	- Rett syndrome (RTT) [MIM:312750]	SWISS	9	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Leu100Arg	VAR_023553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023553	- Rett syndrome (RTT) [MIM:312750]	SWISS	10	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Leu100Val	VAR_017462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017462	rs28935168 Rett syndrome (RTT) [MIM:312750]	SWISS	9	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Leu100Val	VAR_017462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017462	rs28935168 Rett syndrome (RTT) [MIM:312750]	SWISS	9	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Leu100Val	VAR_017462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017462	rs28935168 Rett syndrome (RTT) [MIM:312750]	SWISS	9	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Leu100Val	VAR_017462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017462	rs28935168 Rett syndrome (RTT) [MIM:312750]	SWISS	10	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Pro101His	VAR_018183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018183	- Rett syndrome (RTT) [MIM:312750]	SWISS	10	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Pro101His	VAR_018183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018183	- Rett syndrome (RTT) [MIM:312750]	SWISS	10	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Pro101His	VAR_018183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018183	- Rett syndrome (RTT) [MIM:312750]	SWISS	10	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Pro101His	VAR_018183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018183	- Rett syndrome (RTT) [MIM:312750]	SWISS	11	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Pro101Leu	VAR_018184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018184	- Rett syndrome (RTT) [MIM:312750]	SWISS	10	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Pro101Leu	VAR_018184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018184	- Rett syndrome (RTT) [MIM:312750]	SWISS	10	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Pro101Leu	VAR_018184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018184	- Rett syndrome (RTT) [MIM:312750]	SWISS	10	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Pro101Leu	VAR_018184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018184	- Rett syndrome (RTT) [MIM:312750]	SWISS	11	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Pro101Arg	VAR_010276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010276	- Rett syndrome (RTT) [MIM:312750]	SWISS	10	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Pro101Arg	VAR_010276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010276	- Rett syndrome (RTT) [MIM:312750]	SWISS	10	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Pro101Arg	VAR_010276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010276	- Rett syndrome (RTT) [MIM:312750]	SWISS	10	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Pro101Arg	VAR_010276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010276	- Rett syndrome (RTT) [MIM:312750]	SWISS	11	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Pro101Ser	VAR_023554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023554	- Rett syndrome (RTT) [MIM:312750]	SWISS	10	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Pro101Ser	VAR_023554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023554	- Rett syndrome (RTT) [MIM:312750]	SWISS	10	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Pro101Ser	VAR_023554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023554	- Rett syndrome (RTT) [MIM:312750]	SWISS	10	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Pro101Ser	VAR_023554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023554	- Rett syndrome (RTT) [MIM:312750]	SWISS	11	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Pro101Thr	VAR_018185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018185	- Rett syndrome (RTT) [MIM:312750]	SWISS	10	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Pro101Thr	VAR_018185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018185	- Rett syndrome (RTT) [MIM:312750]	SWISS	10	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Pro101Thr	VAR_018185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018185	- Rett syndrome (RTT) [MIM:312750]	SWISS	10	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Pro101Thr	VAR_018185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018185	- Rett syndrome (RTT) [MIM:312750]	SWISS	11	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Arg106Gln	VAR_018186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018186	- Rett syndrome (RTT) [MIM:312750]	SWISS	15	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Arg106Gln	VAR_018186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018186	- Rett syndrome (RTT) [MIM:312750]	SWISS	15	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Arg106Gln	VAR_018186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018186	- Rett syndrome (RTT) [MIM:312750]	SWISS	15	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Arg106Gln	VAR_018186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018186	- Rett syndrome (RTT) [MIM:312750]	SWISS	16	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Arg106Trp	VAR_010272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010272	rs28934907 Rett syndrome (RTT) [MIM:312750]	SWISS	15	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Arg106Trp	VAR_010272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010272	rs28934907 Rett syndrome (RTT) [MIM:312750]	SWISS	15	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Arg106Trp	VAR_010272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010272	rs28934907 Rett syndrome (RTT) [MIM:312750]	SWISS	15	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Arg106Trp	VAR_010272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010272	rs28934907 Rett syndrome (RTT) [MIM:312750]	SWISS	16	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Arg111Gly	VAR_018187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018187	- Rett syndrome (RTT) [MIM:312750]	SWISS	20	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Arg111Gly	VAR_018187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018187	- Rett syndrome (RTT) [MIM:312750]	SWISS	20	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Arg111Gly	VAR_018187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018187	- Rett syndrome (RTT) [MIM:312750]	SWISS	20	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Arg111Gly	VAR_018187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018187	- Rett syndrome (RTT) [MIM:312750]	SWISS	21	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Tyr120Asp	VAR_023555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023555	- Rett syndrome (RTT) [MIM:312750]	SWISS	31	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Tyr120Asp	VAR_023555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023555	- Rett syndrome (RTT) [MIM:312750]	SWISS	34	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Tyr120Asp	VAR_023555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023555	- Rett syndrome (RTT) [MIM:312750]	SWISS	34	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Tyr120Asp	VAR_023555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023555	- Rett syndrome (RTT) [MIM:312750]	SWISS	50	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Leu124Phe	VAR_010277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010277	- Rett syndrome (RTT) [MIM:312750]	SWISS	35	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Leu124Phe	VAR_010277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010277	- Rett syndrome (RTT) [MIM:312750]	SWISS	38	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Leu124Phe	VAR_010277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010277	- Rett syndrome (RTT) [MIM:312750]	SWISS	38	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Leu124Phe	VAR_010277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010277	- Rett syndrome (RTT) [MIM:312750]	SWISS	54	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Gln128Pro	VAR_018188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018188	- Rett syndrome (RTT) [MIM:312750]	SWISS	39	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Gln128Pro	VAR_018188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018188	- Rett syndrome (RTT) [MIM:312750]	SWISS	42	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Gln128Pro	VAR_018188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018188	- Rett syndrome (RTT) [MIM:312750]	SWISS	42	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Gln128Pro	VAR_018188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018188	- Rett syndrome (RTT) [MIM:312750]	SWISS	70	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Arg133Cys	VAR_010273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010273	rs28934904 Rett syndrome (RTT) [MIM:312750]	SWISS	44	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Arg133Cys	VAR_010273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010273	rs28934904 Rett syndrome (RTT) [MIM:312750]	SWISS	49	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Arg133Cys	VAR_010273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010273	rs28934904 Rett syndrome (RTT) [MIM:312750]	SWISS	49	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Arg133Cys	VAR_010273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010273	rs28934904 Rett syndrome (RTT) [MIM:312750]	SWISS	75	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Arg133His	VAR_018189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018189	- Rett syndrome (RTT) [MIM:312750]	SWISS	44	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Arg133His	VAR_018189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018189	- Rett syndrome (RTT) [MIM:312750]	SWISS	49	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Arg133His	VAR_018189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018189	- Rett syndrome (RTT) [MIM:312750]	SWISS	49	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Arg133His	VAR_018189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018189	- Rett syndrome (RTT) [MIM:312750]	SWISS	75	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Ser134Cys	VAR_010278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010278	- Rett syndrome (RTT) [MIM:312750]	SWISS	45	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Ser134Cys	VAR_010278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010278	- Rett syndrome (RTT) [MIM:312750]	SWISS	50	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Ser134Cys	VAR_010278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010278	- Rett syndrome (RTT) [MIM:312750]	SWISS	50	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Ser134Cys	VAR_010278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010278	- Rett syndrome (RTT) [MIM:312750]	SWISS	76	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Lys135Glu	VAR_018190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018190	- Rett syndrome (RTT) [MIM:312750]	SWISS	46	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Lys135Glu	VAR_018190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018190	- Rett syndrome (RTT) [MIM:312750]	SWISS	51	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Lys135Glu	VAR_018190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018190	- Rett syndrome (RTT) [MIM:312750]	SWISS	51	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Lys135Glu	VAR_018190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018190	- Rett syndrome (RTT) [MIM:312750]	SWISS	77	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Glu137Gly	VAR_017581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017581	- Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]	SWISS	48	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Glu137Gly	VAR_017581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017581	- Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]	SWISS	53	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Glu137Gly	VAR_017581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017581	- Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]	SWISS	53	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Glu137Gly	VAR_017581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017581	- Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]	SWISS	79	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Ala140Val	VAR_010279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010279	rs28934908 Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]	SWISS	51	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Ala140Val	VAR_010279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010279	rs28934908 Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]	SWISS	56	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Ala140Val	VAR_010279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010279	rs28934908 Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]	SWISS	56	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Ala140Val	VAR_010279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010279	rs28934908 Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]	SWISS	82	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Pro152Arg	VAR_010280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010280	- Rett syndrome (RTT) [MIM:312750]	SWISS	63	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Pro152Arg	VAR_010280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010280	- Rett syndrome (RTT) [MIM:312750]	SWISS	71	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Pro152Arg	VAR_010280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010280	- Rett syndrome (RTT) [MIM:312750]	SWISS	71	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Pro152Arg	VAR_010280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010280	- Rett syndrome (RTT) [MIM:312750]	SWISS	138	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Phe155Ile	VAR_023556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023556	- Rett syndrome (RTT) [MIM:312750]	SWISS	73	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Phe155Ile	VAR_023556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023556	- Rett syndrome (RTT) [MIM:312750]	SWISS	74	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Phe155Ile	VAR_023556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023556	- Rett syndrome (RTT) [MIM:312750]	SWISS	74	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Phe155Ile	VAR_023556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023556	- Rett syndrome (RTT) [MIM:312750]	SWISS	141	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Phe155Ser	VAR_010274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010274	rs28934905 Rett syndrome (RTT) [MIM:312750]	SWISS	73	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Phe155Ser	VAR_010274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010274	rs28934905 Rett syndrome (RTT) [MIM:312750]	SWISS	74	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Phe155Ser	VAR_010274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010274	rs28934905 Rett syndrome (RTT) [MIM:312750]	SWISS	74	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Phe155Ser	VAR_010274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010274	rs28934905 Rett syndrome (RTT) [MIM:312750]	SWISS	141	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Asp156Gly	VAR_018191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018191	- Rett syndrome (RTT) [MIM:312750]	SWISS	74	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Asp156Gly	VAR_018191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018191	- Rett syndrome (RTT) [MIM:312750]	SWISS	75	cd00122	4826830,NP_004983
4204	1708973	Disease	p.Asp156Gly	VAR_018191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018191	- Rett syndrome (RTT) [MIM:312750]	SWISS	75	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Asp156Gly	VAR_018191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018191	- Rett syndrome (RTT) [MIM:312750]	SWISS	142	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Thr158Ala	VAR_023557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023557	- Rett syndrome (RTT) [MIM:312750]	SWISS	76	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Thr158Ala	VAR_023557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023557	- Rett syndrome (RTT) [MIM:312750]	SWISS	77	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Thr158Ala	VAR_023557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023557	- Rett syndrome (RTT) [MIM:312750]	SWISS	144	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Thr158Met	VAR_010275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010275	rs28934906 Rett syndrome (RTT) [MIM:312750]	SWISS	76	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Thr158Met	VAR_010275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010275	rs28934906 Rett syndrome (RTT) [MIM:312750]	SWISS	77	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Thr158Met	VAR_010275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010275	rs28934906 Rett syndrome (RTT) [MIM:312750]	SWISS	144	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Gly161Val	VAR_023558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023558	- Rett syndrome (RTT) [MIM:312750]	SWISS	79	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Gly161Val	VAR_023558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023558	- Rett syndrome (RTT) [MIM:312750]	SWISS	85	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Gly161Val	VAR_023558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023558	- Rett syndrome (RTT) [MIM:312750]	SWISS	147	pfam01429	4826830,NP_004983
4204	1708973	Disease	p.Arg167Trp	VAR_018192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018192	- Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]	SWISS	85	smart00391	4826830,NP_004983
4204	1708973	Disease	p.Arg167Trp	VAR_018192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018192	- Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]	SWISS	91	cd01396	4826830,NP_004983
4204	1708973	Disease	p.Lys210Ile	VAR_018197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018197	- Rett syndrome (RTT) [MIM:312750]	SWISS	No Domain	N/A	4826830,NP_004983
4204	1708973	Disease	p.Pro225Leu	VAR_037664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037664	- Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]	SWISS	No Domain	N/A	4826830,NP_004983
4204	1708973	Disease	p.Pro225Arg	VAR_018198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018198	- Rett syndrome (RTT) [MIM:312750]	SWISS	No Domain	N/A	4826830,NP_004983
4204	1708973	Disease	p.Lys284Glu	VAR_018203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018203	- Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]	SWISS	No Domain	N/A	4826830,NP_004983
4204	1708973	Disease	p.Pro302Ala	VAR_018206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018206	- Rett syndrome (RTT) [MIM:312750]	SWISS	No Domain	N/A	4826830,NP_004983
4204	1708973	Disease	p.Pro302His	VAR_018207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018207	- Rett syndrome (RTT) [MIM:312750]	SWISS	No Domain	N/A	4826830,NP_004983
4204	1708973	Disease	p.Pro302Leu	VAR_018208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018208	- Rett syndrome (RTT) [MIM:312750]	SWISS	No Domain	N/A	4826830,NP_004983
4204	1708973	Disease	p.Pro302Arg	VAR_018209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018209	- Rett syndrome (RTT) [MIM:312750]	SWISS	No Domain	N/A	4826830,NP_004983
4204	1708973	Disease	p.Lys305Arg	VAR_018210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018210	- Rett syndrome (RTT) [MIM:312750]	SWISS	No Domain	N/A	4826830,NP_004983
4204	1708973	Disease	p.Arg306Cys	VAR_010282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010282	rs28935468 Rett syndrome (RTT) [MIM:312750]	SWISS	No Domain	N/A	4826830,NP_004983
4204	1708973	Disease	p.Arg306His	VAR_018211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018211	- Rett syndrome (RTT) [MIM:312750]	SWISS	No Domain	N/A	4826830,NP_004983
4204	1708973	Disease	p.Pro322Ala	VAR_018212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018212	- Rett syndrome (RTT) [MIM:312750]	SWISS	No Domain	N/A	4826830,NP_004983
4204	1708973	Disease	p.Pro322Leu	VAR_018213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018213	- Rett syndrome (RTT) [MIM:312750]	SWISS	No Domain	N/A	4826830,NP_004983
4204	1708973	Disease	p.Pro322Ser	VAR_037665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037665	- Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]	SWISS	No Domain	N/A	4826830,NP_004983
4204	1708973	Disease	p.Arg344Trp	VAR_018214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018214	- Rett syndrome (RTT) [MIM:312750]	SWISS	No Domain	N/A	4826830,NP_004983
4204	1708973	Disease	p.Pro399Leu	VAR_018220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018220	- Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]	SWISS	No Domain	N/A	4826830,NP_004983
4204	1708973	Disease	p.Gly428Ser	VAR_017463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017463	- Neonatal severe encephalopathy due to MECP2 mutations [MIM:300673]	SWISS	No Domain	N/A	4826830,NP_004983
4204	1708973	Disease	p.Arg453Gln	VAR_018225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018225	- Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]	SWISS	No Domain	N/A	4826830,NP_004983
9968	209572775	Disease	p.Arg961Trp	VAR_033112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033112	- Opitz-Kaveggia syndrome (OKS) [MIM:305450]	SWISS	No Domain	N/A	110347429,NP_005111
9968	209572775	Disease	p.Asn1007Ser	VAR_037534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037534	- Lujan-Fryns syndrome [MIM:309520]	SWISS	No Domain	N/A	110347429,NP_005111
23389	74749769	Disease	p.Glu251Gly	VAR_024024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024024	rs28940309 Transposition of the great arteries, dextro-looped (DTGA) [MIM:608808]	SWISS	523	pfam11597	44771211,NP_056150
23389	74749769	Disease	p.Arg1872His	VAR_024025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024025	rs28940310 Transposition of the great arteries, dextro-looped (DTGA) [MIM:608808]	SWISS	246	pfam06333	44771211,NP_056150
23389	74749769	Disease	p.Asp2023Gly	VAR_024026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024026	- Transposition of the great arteries, dextro-looped (DTGA) [MIM:608808]	SWISS	495	pfam06333	44771211,NP_056150
81857	158706143	Disease	p.Ala335Val	VAR_063521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063521	- Charcot-Marie-Tooth disease type 2B2 (CMT2B2) [MIM:605589]	SWISS	119	pfam11235	50428940,NP_112235
4210	8928170	Disease	p.Arg42Trp	VAR_028326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028326	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	43	cd08320	4557743,NP_000234
4210	8928170	Disease	p.Arg42Trp	VAR_028326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028326	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	43	cd08321	4557743,NP_000234
4210	8928170	Disease	p.Arg42Trp	VAR_028326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028326	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	34	cd08305	4557743,NP_000234
4210	8928170	Disease	p.Arg42Trp	VAR_028326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028326	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	45	pfam02758	4557743,NP_000234
4210	8928170	Disease	p.Ser108Arg	VAR_028327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028327	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	No Domain	N/A	4557743,NP_000234
4210	8928170	Disease	p.Leu110Pro	VAR_016824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016824	rs11466018 Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	No Domain	N/A	4557743,NP_000234
4210	8928170	Disease	p.Glu148Gln	VAR_009051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009051	rs3743930 Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610]	SWISS	No Domain	N/A	4557743,NP_000234
4210	8928170	Disease	p.Glu148Gln	VAR_009051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009051	rs3743930 Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	No Domain	N/A	4557743,NP_000234
4210	8928170	Disease	p.Glu148Val	VAR_028328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028328	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	No Domain	N/A	4557743,NP_000234
4210	8928170	Disease	p.Glu163Ala	VAR_028329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028329	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	No Domain	N/A	4557743,NP_000234
4210	8928170	Disease	p.Glu167Asp	VAR_009052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009052	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	No Domain	N/A	4557743,NP_000234
4210	8928170	Disease	p.Thr177Ile	VAR_028330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028330	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	No Domain	N/A	4557743,NP_000234
4210	8928170	Disease	p.Glu230Lys	VAR_016826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016826	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	No Domain	N/A	4557743,NP_000234
4210	8928170	Disease	p.Thr267Ile	VAR_009054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009054	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	No Domain	N/A	4557743,NP_000234
4210	8928170	Disease	p.Glu319Lys	VAR_028331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028331	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	No Domain	N/A	4557743,NP_000234
4210	8928170	Disease	p.Pro369Ser	VAR_009055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009055	rs11466023 Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	No Domain	N/A	4557743,NP_000234
4210	8928170	Disease	p.Arg408Gln	VAR_009056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009056	rs11466024 Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	44	cd00021	4557743,NP_000234
4210	8928170	Disease	p.Arg408Gln	VAR_009056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009056	rs11466024 Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	54	smart00336	4557743,NP_000234
4210	8928170	Disease	p.Arg408Gln	VAR_009056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009056	rs11466024 Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	64	pfam00643	4557743,NP_000234
4210	8928170	Disease	p.Glu474Lys	VAR_028332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028332	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	No Domain	N/A	4557743,NP_000234
4210	8928170	Disease	p.His478Tyr	VAR_028333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028333	- Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610]	SWISS	No Domain	N/A	4557743,NP_000234
4210	8928170	Disease	p.Phe479Leu	VAR_009057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009057	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	No Domain	N/A	4557743,NP_000234
4210	8928170	Disease	p.Ile591Thr	VAR_016827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016827	rs11466045 Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	No Domain	N/A	4557743,NP_000234
4210	8928170	Disease	p.Gly632Ser	VAR_028335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028335	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	43	smart00589	4557743,NP_000234
4210	8928170	Disease	p.Ile640Met	VAR_028336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028336	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	51	smart00589	4557743,NP_000234
4210	8928170	Disease	p.Ile641Phe	VAR_028337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028337	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	52	smart00589	4557743,NP_000234
4210	8928170	Disease	p.Pro646Leu	VAR_028338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028338	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	57	smart00589	4557743,NP_000234
4210	8928170	Disease	p.Leu649Pro	VAR_028339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028339	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	No Domain	N/A	4557743,NP_000234
4210	8928170	Disease	p.Arg653His	VAR_016828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016828	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	4	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Arg653His	VAR_016828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016828	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	4	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Glu656Ala	VAR_028340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028340	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	7	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Glu656Ala	VAR_028340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028340	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	7	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Asp661Asn	VAR_028341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028341	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	28	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Asp661Asn	VAR_028341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028341	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	12	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Ser675Asn	VAR_016829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016829	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	129	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Ser675Asn	VAR_016829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016829	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	34	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Gly678Glu	VAR_028342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028342	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	188	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Gly678Glu	VAR_028342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028342	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	100	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Met680Ile	VAR_028343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028343	rs28940580 Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610]	SWISS	198	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Met680Ile	VAR_028343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028343	rs28940580 Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610]	SWISS	102	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Met680Ile	VAR_028343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028343	rs28940580 Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	198	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Met680Ile	VAR_028343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028343	rs28940580 Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	102	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Met680Leu	VAR_016830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016830	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	198	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Met680Leu	VAR_016830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016830	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	102	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Thr681Ile	VAR_009059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009059	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	199	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Thr681Ile	VAR_009059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009059	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	103	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Tyr688Cys	VAR_028344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028344	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	230	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Tyr688Cys	VAR_028344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028344	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	114	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Met694Ile	VAR_009061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009061	rs28940578 Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610]	SWISS	236	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Met694Ile	VAR_009061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009061	rs28940578 Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610]	SWISS	120	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Met694Ile	VAR_009061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009061	rs28940578 Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	236	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Met694Ile	VAR_009061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009061	rs28940578 Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	120	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Met694Leu	VAR_028345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028345	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	236	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Met694Leu	VAR_028345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028345	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	120	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Met694Val	VAR_009062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009062	- Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610]	SWISS	236	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Met694Val	VAR_009062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009062	- Familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610]	SWISS	120	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Met694Val	VAR_009062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009062	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	236	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Met694Val	VAR_009062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009062	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	120	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Lys695Met	VAR_028346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028346	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	237	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Lys695Met	VAR_028346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028346	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	121	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Lys695Arg	VAR_009064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009064	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	237	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Lys695Arg	VAR_009064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009064	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	121	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Val704Ile	VAR_028348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028348	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	255	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Val704Ile	VAR_028348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028348	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	130	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Pro705Ser	VAR_028349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028349	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	260	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Pro705Ser	VAR_028349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028349	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	139	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Ile720Met	VAR_028350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028350	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	307	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Ile720Met	VAR_028350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028350	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	162	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Val726Ala	VAR_009065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009065	rs28940579 Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	313	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Val726Ala	VAR_009065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009065	rs28940579 Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	168	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Phe743Leu	VAR_028351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028351	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	490	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Phe743Leu	VAR_028351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028351	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	195	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Ala744Ser	VAR_009066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009066	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	494	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Ala744Ser	VAR_009066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009066	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	196	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Pro758Ser	VAR_028352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028352	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	523	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Pro758Ser	VAR_028352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028352	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	214	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Arg761His	VAR_009067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009067	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	532	smart00449	4557743,NP_000234
4210	8928170	Disease	p.Arg761His	VAR_009067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009067	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	217	pfam00622	4557743,NP_000234
4210	8928170	Disease	p.Pro780Thr	VAR_028353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028353	- Familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]	SWISS	No Domain	N/A	4557743,NP_000234
4221	93141285	Disease	p.Asp158Val	VAR_039592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039592	- Familial isolated hyperparathyroidism (FIHP) [MIM:145000]	SWISS	169	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Val189Glu	VAR_005445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005445	- Familial isolated hyperparathyroidism (FIHP) [MIM:145000]	SWISS	200	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Glu260Lys	VAR_005448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005448	- Familial isolated hyperparathyroidism (FIHP) [MIM:145000]	SWISS	271	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Gln265Pro	VAR_039612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039612	- Familial isolated hyperparathyroidism (FIHP) [MIM:145000]	SWISS	276	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Leu272Pro	VAR_005450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005450	- Familial isolated hyperparathyroidism (FIHP) [MIM:145000]	SWISS	283	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Pro282His	VAR_039615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039615	- Familial isolated hyperparathyroidism (FIHP) [MIM:145000]	SWISS	293	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Gly310Asp	VAR_039618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039618	- Familial isolated hyperparathyroidism (FIHP) [MIM:145000]	SWISS	321	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
4221	93141285	Disease	p.Ala416Pro	VAR_039634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039634	- Familial isolated hyperparathyroidism (FIHP) [MIM:145000]	SWISS	430	pfam05053	18860839,NP_000235|18860855,NP_570715|18860857,NP_570716|18860853,NP_570714|18860851,NP_570713|18860849,NP_570712
10461	160332297	Disease	p.Glu540Lys	VAR_021046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021046	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	63	cd05107	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	91_G	cd05101	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	90	cd05076	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	107_G	cd05123	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	76_G	cd06611	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	79	cd07863	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	194	cd00180	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	65	cd05586	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	65	cd05577	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	75_G	cd05579	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	62	cd05608	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	62	cd05585	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	69	cd05115	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	114	cd05572	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	91_G	cd08528	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	82	cd06612	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	74_G	cd08529	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	73_G	cd07861	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	72_G	cd07860	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	71	cd07836	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	73	cd05612	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	80	cd07832	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	89	cd06609	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	67	cd08219	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	77	cd05089	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	89_G	cd05574	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	73	cd08218	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	68	cd08225	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	123	cd05580	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	77	cd06627	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	83	cd05108	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	89	cd07835	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	90	cd05122	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	73	cd05045	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	82	cd06628	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	138	cd06606	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	104	cd07840	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	74	cd05605	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	68	cd08223	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	76	cd06631	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	111	cd05055	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	126	cd05106	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	79	cd06624	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	109_G	cd05104	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	101	cd05043	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	70_G	cd05083	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	77	cd06637	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	73	cd05082	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	76	cd05039	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	81_G	cd05036	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	108_G	cd05056	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	76	cd06643	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	79	cd07858	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	91_G	cd06647	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	91_G	cd06648	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	99	cd06635	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	102	cd06614	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	90	cd06656	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	79_G	cd06645	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	82	cd07829	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	359	smart00221	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	120	pfam07714	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	231	smart00219	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	123	pfam00069	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	78_G	cd06629	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	77_G	cd05090	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	71_G	cd05589	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	75	cd05075	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	75	cd05074	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	85	cd05035	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	77	cd08222	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	79	cd05062	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	80_G	cd05050	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	114	cd05032	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	92_G	cd05097	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	95_G	cd05095	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	78_G	cd05092	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	73_G	cd05073	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	73_G	cd05072	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	72_G	cd05067	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	72_G	cd05069	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	80	cd05091	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	73_G	cd05034	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	73_G	cd05068	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	72	cd05070	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	78_G	cd05094	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	72_G	cd05071	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	80	cd05080	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	81	cd05063	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	74_G	cd05052	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	77_G	cd05066	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	79	cd05065	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	101	cd05033	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	80	cd05064	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	80	cd05079	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	71_G	cd05113	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	71_G	cd05059	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	73	cd05112	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	71_G	cd05114	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	78_G	cd05093	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	79	cd05061	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	78	cd06651	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	88	cd06632	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	77	cd06630	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	81	cd07838	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	112	cd07830	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	77	cd07844	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	72_G	cd07839	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	77	cd07871	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	103	cd07834	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	77	cd06653	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	102	cd06608	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	78	cd06625	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	79	cd07854	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	76	cd06626	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	83	cd05110	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	83	cd05109	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	81_G	cd05048	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	82	cd05088	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	87	cd05038	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	114_G	cd05051	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	84	cd05049	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	92_G	cd05096	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	141_G	cd05046	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	76	cd08228	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	72	cd06605	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	76	cd08229	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	98	cd06623	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	75_G	cd07845	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	93	cd06616	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	78	cd07862	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	73_G	cd07847	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	75_G	cd06642	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	73	cd05148	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	77	cd08224	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	71	cd06617	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	73	cd06622	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	76	cd06621	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	75_G	cd06640	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	374	COG0515	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	81	cd07864	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	89	cd05053	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	130	cd05057	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	69	cd05578	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	168	cd07842	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	82_G	cd08530	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	72_G	cd07846	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	75	cd06610	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	80	cd05118	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	75	cd08216	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	89	cd07841	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	72	cd07831	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	121	cd05581	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	82_G	cd05103	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	82_G	cd05054	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	83_G	cd05102	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	83	cd05111	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	70_G	cd05616	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	76	cd06613	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	76	cd05081	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	75_G	cd06641	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	75_G	cd05587	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	70_G	cd05615	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	67	cd05606	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	78_G	cd06917	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	71_G	cd08221	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	88	cd06618	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	100	cd06639	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	141	cd05105	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	188	cd05107	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	82	cd07866	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	234	smart00220	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	92	cd06659	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	95	cd07851	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	75_G	cd05058	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	64	cd05595	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	75	cd07837	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	73	cd08217	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	95	cd08215	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	65	cd05603	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	70	cd05047	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	72_G	cd05060	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	70	cd05116	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	65	cd05591	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	64	cd05593	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	64	cd05594	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	86_G	cd05037	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	68	cd05592	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	65	cd05575	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	67	cd05582	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	68	cd05619	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	66	cd05041	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	75	cd08220	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	65_G	cd05084	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	70_G	cd05042	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	67_G	cd05087	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	65_G	cd05085	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	73	cd05044	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	74	cd05040	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	64	cd05571	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	78	cd05077	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	73	cd05078	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	125	cd00192	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	67_G	cd05086	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	67_G	cd05570	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	69	cd05588	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	94_G	cd05098	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	89	cd06638	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	82_G	cd06644	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	88_G	cd05099	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	88_G	cd05100	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	86	cd07865	66932918,NP_006334
10461	160332297	Disease	p.Ser661Cys	VAR_021047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021047	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	85_G	cd06634	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	285	cd07863	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	284	cd05586	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	273	cd05608	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	279	cd05585	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	287	cd07861	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	278	cd07860	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	289	cd07836	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	286	cd05612	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	309	cd06609	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	281	cd05089	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	387	cd05580	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	279	cd05108	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	310	cd07835	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	270	cd05605	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	294	cd07858	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	291	cd06647	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	302	cd06635	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	286	cd06656	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	1077	smart00221	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	290	cd05589	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	348	cd05094	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	278	cd07844	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	284	cd07839	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	282	cd07871	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	516	cd07834	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	299_G	cd07854	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	293	cd05110	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	276	cd05109	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	286	cd05088	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	302	cd06616	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	284	cd07862	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	279	cd07847	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	270	cd06642	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	282	cd06617	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	333	cd06622	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	1242	COG0515	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	300	cd07864	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	436	cd07842	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	261	cd05616	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	264	cd06641	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	269	cd05587	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	261	cd05615	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	270	cd05606	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	316	cd06618	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	285	cd06659	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	324	cd07851	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	282	cd05595	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	296	cd07837	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	262	cd05603	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	264	cd05591	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	282	cd05593	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	283	cd05594	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	299	cd05592	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	284	cd05575	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	258	cd05582	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	252	cd05619	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	283	cd05571	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	269	cd05570	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	269	cd05588	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	305	cd05099	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	307	cd05100	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	352	cd07865	66932918,NP_006334
10461	160332297	Disease	p.Ile871Thr	VAR_021048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021048	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	293	cd06634	66932918,NP_006334
9927	47605777	Disease	p.Val69Phe	VAR_018607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018607	rs28940296 Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]	SWISS	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Leu76Pro	VAR_018608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018608	rs28940293 Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]	SWISS	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Arg94Gln	VAR_018609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018609	rs28940291 Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]	SWISS	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Arg94Trp	VAR_029876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029876	- Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152]	SWISS	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Thr206Ile	VAR_029877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029877	- Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152]	SWISS	233	pfam00350	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Thr206Ile	VAR_029877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029877	- Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152]	SWISS	128	cd00880	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Pro251Ala	VAR_018610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018610	rs28940295 Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]	SWISS	301	pfam00350	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Pro251Ala	VAR_018610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018610	rs28940295 Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]	SWISS	301	cd00880	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Gln276Arg	VAR_029878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029878	- Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152]	SWISS	328	cd00880	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Arg280His	VAR_018611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018611	rs28940294 Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]	SWISS	349	cd00880	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Lys357Asn	VAR_022464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022464	- Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]	SWISS	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.His361Tyr	VAR_029879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029879	- Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152]	SWISS	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Arg364Trp	VAR_029880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029880	- Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152]	SWISS	No Domain	N/A	189083768,NP_001121132|7662004,NP_055689
9927	47605777	Disease	p.Trp740Ser	VAR_018612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018612	rs28940292 Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]	SWISS	155	pfam04799	189083768,NP_001121132|7662004,NP_055689
83552	74717666	Disease	p.Ile182Thr	VAR_025694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025694	- Nanophthalmos 2 (NNO2) [MIM:609549]	SWISS	68	smart00042	13899255,NP_113621
83552	74717666	Disease	p.Ile182Thr	VAR_025694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025694	- Nanophthalmos 2 (NNO2) [MIM:609549]	SWISS	77	cd00041	13899255,NP_113621
83552	74717666	Disease	p.Ile182Thr	VAR_025694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025694	- Nanophthalmos 2 (NNO2) [MIM:609549]	SWISS	47	pfam00431	13899255,NP_113621
256471	74730313	Disease	p.Gly52Arg	VAR_058427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058427	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	14	pfam00083	22749525,NP_689991
256471	74730313	Disease	p.Gly52Arg	VAR_058427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058427	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	11	pfam07690	22749525,NP_689991
256471	74730313	Disease	p.Gly52Arg	VAR_058427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058427	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	14	cd06174	22749525,NP_689991
256471	74730313	Disease	p.Gly52Arg	VAR_058427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058427	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	30	COG0477	22749525,NP_689991
256471	74730313	Disease	p.Tyr121Cys	VAR_058428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058428	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	160	pfam00083	22749525,NP_689991
256471	74730313	Disease	p.Tyr121Cys	VAR_058428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058428	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	196	pfam07690	22749525,NP_689991
256471	74730313	Disease	p.Tyr121Cys	VAR_058428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058428	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	158	cd06174	22749525,NP_689991
256471	74730313	Disease	p.Tyr121Cys	VAR_058428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058428	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	205	COG0477	22749525,NP_689991
256471	74730313	Disease	p.Arg139His	VAR_058429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058429	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	191	pfam00083	22749525,NP_689991
256471	74730313	Disease	p.Arg139His	VAR_058429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058429	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	230	pfam07690	22749525,NP_689991
256471	74730313	Disease	p.Arg139His	VAR_058429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058429	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	209	cd06174	22749525,NP_689991
256471	74730313	Disease	p.Arg139His	VAR_058429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058429	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	251	COG0477	22749525,NP_689991
256471	74730313	Disease	p.Ala157Pro	VAR_058430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058430	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	209	pfam00083	22749525,NP_689991
256471	74730313	Disease	p.Ala157Pro	VAR_058430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058430	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	253	pfam07690	22749525,NP_689991
256471	74730313	Disease	p.Ala157Pro	VAR_058430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058430	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	227	cd06174	22749525,NP_689991
256471	74730313	Disease	p.Ala157Pro	VAR_058430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058430	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	308	COG0477	22749525,NP_689991
256471	74730313	Disease	p.Thr294Lys	VAR_058431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058431	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	393	pfam00083	22749525,NP_689991
256471	74730313	Disease	p.Thr294Lys	VAR_058431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058431	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	538	pfam07690	22749525,NP_689991
256471	74730313	Disease	p.Thr294Lys	VAR_058431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058431	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	520	cd06174	22749525,NP_689991
256471	74730313	Disease	p.Thr294Lys	VAR_058431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058431	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	589	COG0477	22749525,NP_689991
256471	74730313	Disease	p.Gly310Asp	VAR_037177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037177	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	409	pfam00083	22749525,NP_689991
256471	74730313	Disease	p.Gly310Asp	VAR_037177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037177	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	570	pfam07690	22749525,NP_689991
256471	74730313	Disease	p.Gly310Asp	VAR_037177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037177	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	558	cd06174	22749525,NP_689991
256471	74730313	Disease	p.Gly310Asp	VAR_037177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037177	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	627	COG0477	22749525,NP_689991
256471	74730313	Disease	p.Gly429Asp	VAR_037180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037180	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	589	pfam00083	22749525,NP_689991
256471	74730313	Disease	p.Gly429Asp	VAR_037180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037180	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	686	pfam07690	22749525,NP_689991
256471	74730313	Disease	p.Gly429Asp	VAR_037180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037180	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	762	cd06174	22749525,NP_689991
256471	74730313	Disease	p.Gly429Asp	VAR_037180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037180	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	800	COG0477	22749525,NP_689991
256471	74730313	Disease	p.Pro447Leu	VAR_058432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058432	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	712	pfam07690	22749525,NP_689991
256471	74730313	Disease	p.Pro447Leu	VAR_058432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058432	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	780	cd06174	22749525,NP_689991
256471	74730313	Disease	p.Pro447Leu	VAR_058432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058432	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	818	COG0477	22749525,NP_689991
256471	74730313	Disease	p.Arg465Trp	VAR_058433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058433	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	746	pfam07690	22749525,NP_689991
256471	74730313	Disease	p.Arg465Trp	VAR_058433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058433	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	812	cd06174	22749525,NP_689991
256471	74730313	Disease	p.Arg465Trp	VAR_058433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058433	- Neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]	SWISS	836	COG0477	22749525,NP_689991
4247	1708004	Disease	p.His262Arg	VAR_003415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003415	- Congenital disorder of glycosylation type 2A (CDG2A) [MIM:212066]	SWISS	195	pfam05060	4505163,NP_002399
4247	1708004	Disease	p.Ser290Phe	VAR_003416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003416	- Congenital disorder of glycosylation type 2A (CDG2A) [MIM:212066]	SWISS	223	pfam05060	4505163,NP_002399
4247	1708004	Disease	p.Asn318Asp	VAR_012343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012343	- Congenital disorder of glycosylation type 2A (CDG2A) [MIM:212066]	SWISS	252	pfam05060	4505163,NP_002399
4281	22653810	Disease	p.Cys266Arg	VAR_013758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013758	- Opitz syndrome type I (OS-I) [MIM:300000]	SWISS	72	smart00502	148833499,NP_001092094|300797132,NP_001180206|4557753,NP_000372|15451852,NP_150632
4281	22653810	Disease	p.Leu295Pro	VAR_025495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025495	- Opitz syndrome type I (OS-I) [MIM:300000]	SWISS	101	smart00502	148833499,NP_001092094|300797132,NP_001180206|4557753,NP_000372|15451852,NP_150632
4281	22653810	Disease	p.Ile536Thr	VAR_013761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013761	- Opitz syndrome type I (OS-I) [MIM:300000]	SWISS	No Domain	N/A	148833499,NP_001092094|300797132,NP_001180206|4557753,NP_000372|15451852,NP_150632
4281	22653810	Disease	p.Leu626Pro	VAR_013762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013762	rs28934611 Opitz syndrome type I (OS-I) [MIM:300000]	SWISS	488	smart00449	148833499,NP_001092094|300797132,NP_001180206|4557753,NP_000372|15451852,NP_150632
4281	22653810	Disease	p.Leu626Pro	VAR_013762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013762	rs28934611 Opitz syndrome type I (OS-I) [MIM:300000]	SWISS	192	pfam00622	148833499,NP_001092094|300797132,NP_001180206|4557753,NP_000372|15451852,NP_150632
4286	13124344	Disease	p.Arg310Lys	VAR_010297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010297	- Waardenburg syndrome type 2A (WS2A) [MIM:193510]	SWISS	2	cd00083	NULL
4286	13124344	Disease	p.Asn317Lys	VAR_010298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010298	- Tietz syndrome [MIM:103500]	SWISS	6	pfam00010	NULL
4286	13124344	Disease	p.Asn317Lys	VAR_010298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010298	- Tietz syndrome [MIM:103500]	SWISS	9	cd00083	NULL
4286	13124344	Disease	p.Ser357Pro	VAR_010300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010300	- Waardenburg syndrome type 2A (WS2A) [MIM:193510]	SWISS	119	smart00353	NULL
4286	13124344	Disease	p.Ser357Pro	VAR_010300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010300	- Waardenburg syndrome type 2A (WS2A) [MIM:193510]	SWISS	85	pfam00010	NULL
4286	13124344	Disease	p.Ser357Pro	VAR_010300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010300	- Waardenburg syndrome type 2A (WS2A) [MIM:193510]	SWISS	81	cd00083	NULL
4286	13124344	Disease	p.Asn385Asp	VAR_010301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010301	- Waardenburg syndrome type 2A (WS2A) [MIM:193510]	SWISS	No Domain	N/A	NULL
4286	13124344	Disease	p.Ser405Pro	VAR_010302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010302	- Waardenburg syndrome type 2A (WS2A) [MIM:193510]	SWISS	10	pfam11851	NULL
8195	11133565	Disease	p.Ile32Met	VAR_017035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017035	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	29	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ile32Met	VAR_017035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017035	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	30	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ile32Met	VAR_017035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017035	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	10	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ile32Met	VAR_017035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017035	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	23	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ile32Met	VAR_017035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017035	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	23	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ile32Met	VAR_017035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017035	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	24	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Tyr37Cys	VAR_009864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009864	- McKusick-Kaufman syndrome (MKKS) [MIM:236700]	SWISS	34	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Tyr37Cys	VAR_009864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009864	- McKusick-Kaufman syndrome (MKKS) [MIM:236700]	SWISS	35	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Tyr37Cys	VAR_009864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009864	- McKusick-Kaufman syndrome (MKKS) [MIM:236700]	SWISS	15	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Tyr37Cys	VAR_009864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009864	- McKusick-Kaufman syndrome (MKKS) [MIM:236700]	SWISS	28	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Tyr37Cys	VAR_009864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009864	- McKusick-Kaufman syndrome (MKKS) [MIM:236700]	SWISS	28	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Tyr37Cys	VAR_009864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009864	- McKusick-Kaufman syndrome (MKKS) [MIM:236700]	SWISS	28	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly52Asp	VAR_009882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009882	rs28937875 Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	49	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly52Asp	VAR_009882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009882	rs28937875 Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	50	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly52Asp	VAR_009882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009882	rs28937875 Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	37	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly52Asp	VAR_009882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009882	rs28937875 Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	43	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly52Asp	VAR_009882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009882	rs28937875 Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	49	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly52Asp	VAR_009882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009882	rs28937875 Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	43	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr57Ala	VAR_009883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009883	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	54	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr57Ala	VAR_009883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009883	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	59	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr57Ala	VAR_009883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009883	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	42	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr57Ala	VAR_009883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009883	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	47	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr57Ala	VAR_009883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009883	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	53	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr57Ala	VAR_009883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009883	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	52	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.His84Tyr	VAR_009866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009866	- McKusick-Kaufman syndrome (MKKS) [MIM:236700]	SWISS	95	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.His84Tyr	VAR_009866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009866	- McKusick-Kaufman syndrome (MKKS) [MIM:236700]	SWISS	84	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.His84Tyr	VAR_009866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009866	- McKusick-Kaufman syndrome (MKKS) [MIM:236700]	SWISS	74	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.His84Tyr	VAR_009866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009866	- McKusick-Kaufman syndrome (MKKS) [MIM:236700]	SWISS	74	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.His84Tyr	VAR_009866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009866	- McKusick-Kaufman syndrome (MKKS) [MIM:236700]	SWISS	84	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.His84Tyr	VAR_009866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009866	- McKusick-Kaufman syndrome (MKKS) [MIM:236700]	SWISS	67_G	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Arg155Leu	VAR_017040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017040	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	9	cd03333	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Arg155Leu	VAR_017040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017040	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	202	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Arg155Leu	VAR_017040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017040	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	157	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Arg155Leu	VAR_017040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017040	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	181	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Arg155Leu	VAR_017040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017040	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	158	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Arg155Leu	VAR_017040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017040	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	169	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Arg155Leu	VAR_017040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017040	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	152	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala181Pro	VAR_038898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038898	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	41	cd03333	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala181Pro	VAR_038898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038898	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	226	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala181Pro	VAR_038898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038898	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	181	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala181Pro	VAR_038898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038898	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	207	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala181Pro	VAR_038898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038898	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	180	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala181Pro	VAR_038898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038898	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	201	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala181Pro	VAR_038898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038898	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	174	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ser236Pro	VAR_017036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017036	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	131	cd03333	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ser236Pro	VAR_017036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017036	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	301	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ser236Pro	VAR_017036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017036	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	236	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ser236Pro	VAR_017036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017036	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	300	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ser236Pro	VAR_017036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017036	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	237	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ser236Pro	VAR_017036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017036	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	290	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ser236Pro	VAR_017036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017036	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	236	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr237Ala	VAR_038899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038899	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	132	cd03333	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr237Ala	VAR_038899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038899	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	302	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr237Ala	VAR_038899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038899	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	237	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr237Ala	VAR_038899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038899	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	301	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr237Ala	VAR_038899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038899	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	238	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr237Ala	VAR_038899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038899	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	291	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr237Ala	VAR_038899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038899	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	237	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr237Pro	VAR_038900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038900	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	132	cd03333	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr237Pro	VAR_038900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038900	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	302	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr237Pro	VAR_038900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038900	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	237	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr237Pro	VAR_038900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038900	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	301	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr237Pro	VAR_038900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038900	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	238	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr237Pro	VAR_038900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038900	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	291	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Thr237Pro	VAR_038900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038900	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	237	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala242Ser	VAR_009867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009867	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	137	cd03333	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala242Ser	VAR_009867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009867	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	313	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala242Ser	VAR_009867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009867	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	241	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala242Ser	VAR_009867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009867	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	317	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala242Ser	VAR_009867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009867	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	243	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala242Ser	VAR_009867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009867	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	296	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala242Ser	VAR_009867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009867	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	251	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala242Ser	VAR_009867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009867	- McKusick-Kaufman syndrome (MKKS) [MIM:236700]	SWISS	137	cd03333	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala242Ser	VAR_009867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009867	- McKusick-Kaufman syndrome (MKKS) [MIM:236700]	SWISS	313	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala242Ser	VAR_009867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009867	- McKusick-Kaufman syndrome (MKKS) [MIM:236700]	SWISS	241	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala242Ser	VAR_009867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009867	- McKusick-Kaufman syndrome (MKKS) [MIM:236700]	SWISS	317	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala242Ser	VAR_009867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009867	- McKusick-Kaufman syndrome (MKKS) [MIM:236700]	SWISS	243	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala242Ser	VAR_009867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009867	- McKusick-Kaufman syndrome (MKKS) [MIM:236700]	SWISS	296	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ala242Ser	VAR_009867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009867	- McKusick-Kaufman syndrome (MKKS) [MIM:236700]	SWISS	251	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	VAR_009884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009884	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	191	cd03333	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	VAR_009884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009884	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	372	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	VAR_009884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009884	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	281	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	VAR_009884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009884	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	357	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	VAR_009884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009884	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	269	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	VAR_009884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009884	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	350	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Leu277Pro	VAR_009884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009884	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	288	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Asp286Ala	VAR_017037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017037	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	200	cd03333	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Asp286Ala	VAR_017037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017037	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	381	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Asp286Ala	VAR_017037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017037	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	287	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Asp286Ala	VAR_017037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017037	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	366	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Asp286Ala	VAR_017037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017037	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	289	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Asp286Ala	VAR_017037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017037	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	359	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Asp286Ala	VAR_017037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017037	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	297	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ile339Val	VAR_017041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017041	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	313	cd03333	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ile339Val	VAR_017041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017041	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	463	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ile339Val	VAR_017041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017041	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	340	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ile339Val	VAR_017041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017041	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	494	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ile339Val	VAR_017041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017041	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	357	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ile339Val	VAR_017041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017041	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	444	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ile339Val	VAR_017041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017041	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	355	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly345Glu	VAR_017042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017042	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	319	cd03333	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly345Glu	VAR_017042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017042	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	469	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly345Glu	VAR_017042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017042	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	346	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly345Glu	VAR_017042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017042	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	509	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly345Glu	VAR_017042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017042	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	363	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly345Glu	VAR_017042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017042	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	450	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Gly345Glu	VAR_017042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017042	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	361	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ser460Pro	VAR_038902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038902	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	636	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ser460Pro	VAR_038902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038902	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	452	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ser460Pro	VAR_038902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038902	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	703	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ser460Pro	VAR_038902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038902	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	500	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ser460Pro	VAR_038902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038902	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	651	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ser460Pro	VAR_038902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038902	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	493	cd03338	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Asp492Asn	VAR_038903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038903	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	687	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Asp492Asn	VAR_038903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038903	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	473	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Asp492Asn	VAR_038903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038903	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	756	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Asp492Asn	VAR_038903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038903	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	538	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Asp492Asn	VAR_038903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038903	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	693	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Cys499Ser	VAR_013161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013161	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	697	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Cys499Ser	VAR_013161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013161	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	482	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Cys499Ser	VAR_013161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013161	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	763	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Cys499Ser	VAR_013161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013161	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	546	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Cys499Ser	VAR_013161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013161	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	700	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ser511Ala	VAR_017038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017038	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	711	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ser511Ala	VAR_017038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017038	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	488_G	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ser511Ala	VAR_017038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017038	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	782	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ser511Ala	VAR_017038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017038	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	556_G	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Ser511Ala	VAR_017038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017038	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	710	cd00309	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Arg518His	VAR_017039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017039	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	717_G	COG0459	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Arg518His	VAR_017039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017039	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	488_G	cd03343	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Arg518His	VAR_017039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017039	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	792	pfam00118	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Arg518His	VAR_017039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017039	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	556_G	cd03341	9055272,NP_061336|25914754,NP_740754
8195	11133565	Disease	p.Arg518His	VAR_017039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017039	- Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]	SWISS	712_G	cd00309	9055272,NP_061336|25914754,NP_740754
54903	92087008	Disease	p.Arg166Trp	VAR_062288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062288	- Meckel syndrome type 1 (MKS1) [MIM:249000]	SWISS	No Domain	N/A	89242137,NP_060247
54903	92087008	Disease	p.Cys492Trp	VAR_062292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062292	- Bardet-Biedl syndrome type 13 (BBS13) [MIM:209900]	SWISS	375	pfam07162	89242137,NP_060247
23209	20141590	Disease	p.Gly59Glu	VAR_017438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017438	- Leukoencephalopathy megalencephalic with subcortical cysts (MLC) [MIM:604004]	SWISS	No Domain	N/A	21237732,NP_631941|14589896,NP_055981
23209	20141590	Disease	p.Pro92Ser	VAR_017439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017439	- Leukoencephalopathy megalencephalic with subcortical cysts (MLC) [MIM:604004]	SWISS	No Domain	N/A	21237732,NP_631941|14589896,NP_055981
23209	20141590	Disease	p.Ser93Leu	VAR_011699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011699	- Leukoencephalopathy megalencephalic with subcortical cysts (MLC) [MIM:604004]	SWISS	No Domain	N/A	21237732,NP_631941|14589896,NP_055981
23209	20141590	Disease	p.Thr118Arg	VAR_011700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011700	- Leukoencephalopathy megalencephalic with subcortical cysts (MLC) [MIM:604004]	SWISS	No Domain	N/A	21237732,NP_631941|14589896,NP_055981
23209	20141590	Disease	p.Asn141Lys	VAR_017440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017440	- Leukoencephalopathy megalencephalic with subcortical cysts (MLC) [MIM:604004]	SWISS	No Domain	N/A	21237732,NP_631941|14589896,NP_055981
23209	20141590	Disease	p.Asn141Ser	VAR_017441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017441	- Leukoencephalopathy megalencephalic with subcortical cysts (MLC) [MIM:604004]	SWISS	No Domain	N/A	21237732,NP_631941|14589896,NP_055981
23209	20141590	Disease	p.Gly212Arg	VAR_011701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011701	- Leukoencephalopathy megalencephalic with subcortical cysts (MLC) [MIM:604004]	SWISS	No Domain	N/A	21237732,NP_631941|14589896,NP_055981
23209	20141590	Disease	p.Ser280Leu	VAR_011702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011702	- Leukoencephalopathy megalencephalic with subcortical cysts (MLC) [MIM:604004]	SWISS	No Domain	N/A	21237732,NP_631941|14589896,NP_055981
79083	32129730	Disease	p.Arg35Trp	VAR_018724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018724	- Griscelli syndrome type 3 (GS3) [MIM:609227]	SWISS	No Domain	N/A	13129108,NP_077006
166785	38258173	Disease	p.Leu89Pro	VAR_020835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020835	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	7	COG1703	26892295,NP_758454
166785	38258173	Disease	p.Arg145Gln	VAR_020836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020836	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	25	COG0378	26892295,NP_758454
166785	38258173	Disease	p.Arg145Gln	VAR_020836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020836	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	56	COG1703	26892295,NP_758454
166785	38258173	Disease	p.Arg145Gln	VAR_020836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020836	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	2	pfam02492	26892295,NP_758454
166785	38258173	Disease	p.Arg145Gln	VAR_020836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020836	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	35	pfam03308	26892295,NP_758454
166785	38258173	Disease	p.Tyr207Cys	VAR_017202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017202	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	80	COG0378	26892295,NP_758454
166785	38258173	Disease	p.Tyr207Cys	VAR_017202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017202	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	109	cd01983	26892295,NP_758454
166785	38258173	Disease	p.Tyr207Cys	VAR_017202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017202	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	101	cd03114	26892295,NP_758454
166785	38258173	Disease	p.Tyr207Cys	VAR_017202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017202	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	127	COG1703	26892295,NP_758454
166785	38258173	Disease	p.Tyr207Cys	VAR_017202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017202	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	109	pfam02492	26892295,NP_758454
166785	38258173	Disease	p.Tyr207Cys	VAR_017202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017202	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	103	pfam03308	26892295,NP_758454
166785	38258173	Disease	p.Gly218Glu	VAR_020837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020837	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	85	COG0378	26892295,NP_758454
166785	38258173	Disease	p.Gly218Glu	VAR_020837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020837	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	324	cd01983	26892295,NP_758454
166785	38258173	Disease	p.Gly218Glu	VAR_020837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020837	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	112	cd03114	26892295,NP_758454
166785	38258173	Disease	p.Gly218Glu	VAR_020837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020837	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	138	COG1703	26892295,NP_758454
166785	38258173	Disease	p.Gly218Glu	VAR_020837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020837	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	136	pfam02492	26892295,NP_758454
166785	38258173	Disease	p.Gly218Glu	VAR_020837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020837	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	114	pfam03308	26892295,NP_758454
166785	38258173	Disease	p.Arg359Gly	VAR_038804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038804	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	319	COG1703	26892295,NP_758454
166785	38258173	Disease	p.Arg359Gly	VAR_038804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038804	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	278	pfam03308	26892295,NP_758454
166785	38258173	Disease	p.Arg359Gln	VAR_020838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020838	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	319	COG1703	26892295,NP_758454
166785	38258173	Disease	p.Arg359Gln	VAR_020838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020838	- Methylmalonic aciduria type cblA (MMAA) [MIM:251100]	SWISS	278	pfam03308	26892295,NP_758454
326625	38258221	Disease	p.Ile96Thr	VAR_023471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023471	- Methylmalonic aciduria type cblB (MMAB) [MIM:251110]	SWISS	51	COG2096	16418349,NP_443077
326625	38258221	Disease	p.Ile96Thr	VAR_023471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023471	- Methylmalonic aciduria type cblB (MMAB) [MIM:251110]	SWISS	46	pfam01923	16418349,NP_443077
326625	38258221	Disease	p.Ala135Thr	VAR_017204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017204	rs35648932 Methylmalonic aciduria type cblB (MMAB) [MIM:251110]	SWISS	97	COG2096	16418349,NP_443077
326625	38258221	Disease	p.Ala135Thr	VAR_017204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017204	rs35648932 Methylmalonic aciduria type cblB (MMAB) [MIM:251110]	SWISS	142	pfam01923	16418349,NP_443077
326625	38258221	Disease	p.Arg191Trp	VAR_017206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017206	- Methylmalonic aciduria type cblB (MMAB) [MIM:251110]	SWISS	153	COG2096	16418349,NP_443077
326625	38258221	Disease	p.Arg191Trp	VAR_017206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017206	- Methylmalonic aciduria type cblB (MMAB) [MIM:251110]	SWISS	259	pfam01923	16418349,NP_443077
326625	38258221	Disease	p.Glu193Lys	VAR_017207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017207	- Methylmalonic aciduria type cblB (MMAB) [MIM:251110]	SWISS	155	COG2096	16418349,NP_443077
326625	38258221	Disease	p.Glu193Lys	VAR_017207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017207	- Methylmalonic aciduria type cblB (MMAB) [MIM:251110]	SWISS	261	pfam01923	16418349,NP_443077
25974	85681045	Disease	p.Gln27Arg	VAR_024770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024770	- Methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]	SWISS	No Domain	N/A	153070822,NP_056321
25974	85681045	Disease	p.Leu116Pro	VAR_024771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024771	- Methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]	SWISS	No Domain	N/A	153070822,NP_056321
25974	85681045	Disease	p.His122Arg	VAR_024772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024772	- Methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]	SWISS	No Domain	N/A	153070822,NP_056321
25974	85681045	Disease	p.Tyr130His	VAR_024773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024773	- Methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]	SWISS	No Domain	N/A	153070822,NP_056321
25974	85681045	Disease	p.Gly147Ala	VAR_024774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024774	- Methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]	SWISS	No Domain	N/A	153070822,NP_056321
25974	85681045	Disease	p.Gly147Asp	VAR_024775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024775	- Methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]	SWISS	No Domain	N/A	153070822,NP_056321
25974	85681045	Disease	p.Gly156Asp	VAR_024776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024776	- Methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]	SWISS	No Domain	N/A	153070822,NP_056321
25974	85681045	Disease	p.Trp157Cys	VAR_024777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024777	- Methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]	SWISS	No Domain	N/A	153070822,NP_056321
25974	85681045	Disease	p.Arg161Gly	VAR_024778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024778	- Methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]	SWISS	No Domain	N/A	153070822,NP_056321
25974	85681045	Disease	p.Arg161Gln	VAR_024779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024779	- Methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]	SWISS	No Domain	N/A	153070822,NP_056321
25974	85681045	Disease	p.Arg189Ser	VAR_024780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024780	- Methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]	SWISS	No Domain	N/A	153070822,NP_056321
25974	85681045	Disease	p.Leu193Pro	VAR_024781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024781	- Methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]	SWISS	No Domain	N/A	153070822,NP_056321
25974	85681045	Disease	p.Arg206Pro	VAR_024782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024782	- Methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]	SWISS	No Domain	N/A	153070822,NP_056321
25974	85681045	Disease	p.Arg206Trp	VAR_024783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024783	- Methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]	SWISS	No Domain	N/A	153070822,NP_056321
27249	68565296	Disease	p.Thr182Asn	VAR_043844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043844	- Methylmalonic aciduria and homocystinuria type cblD (MMADHC) [MIM:277410]	SWISS	176	pfam10229	7661548,NP_056517
27249	68565296	Disease	p.Tyr249Cys	VAR_043846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043846	- Methylmalonic aciduria and homocystinuria type cblD (MMADHC) [MIM:277410]	SWISS	244	pfam10229	7661548,NP_056517
27249	68565296	Disease	p.Leu259Pro	VAR_043847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043847	- Methylmalonic aciduria and homocystinuria type cblD (MMADHC) [MIM:277410]	SWISS	254	pfam10229	7661548,NP_056517
4322	1168998	Disease	p.Phe74Ser	VAR_063432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063432	- Metaphyseal anadysplasia type 1 (MANDP1) [MIM:602111]	SWISS	57	pfam01471	4505209,NP_002418
4322	1168998	Disease	p.Phe75Ser	VAR_032753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032753	- Spondyloepimetaphyseal dysplasia Missouri type (SEMD-MO) [MIM:602111]	SWISS	58	pfam01471	4505209,NP_002418
4322	1168998	Disease	p.Met91Thr	VAR_063433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063433	- Metaphyseal anadysplasia type 1 (MANDP1) [MIM:602111]	SWISS	No Domain	N/A	4505209,NP_002418
4322	1168998	Disease	p.His232Asn	VAR_063434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063434	- Metaphyseal anadysplasia type 1 (MANDP1) [MIM:602111]	SWISS	218	cd04279	4505209,NP_002418
4322	1168998	Disease	p.His232Asn	VAR_063434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063434	- Metaphyseal anadysplasia type 1 (MANDP1) [MIM:602111]	SWISS	239	cd04277	4505209,NP_002418
4322	1168998	Disease	p.His232Asn	VAR_063434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063434	- Metaphyseal anadysplasia type 1 (MANDP1) [MIM:602111]	SWISS	380	cd04268	4505209,NP_002418
4322	1168998	Disease	p.His232Asn	VAR_063434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063434	- Metaphyseal anadysplasia type 1 (MANDP1) [MIM:602111]	SWISS	331	smart00235	4505209,NP_002418
4322	1168998	Disease	p.His232Asn	VAR_063434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063434	- Metaphyseal anadysplasia type 1 (MANDP1) [MIM:602111]	SWISS	354	pfam00413	4505209,NP_002418
4322	1168998	Disease	p.His232Asn	VAR_063434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063434	- Metaphyseal anadysplasia type 1 (MANDP1) [MIM:602111]	SWISS	352	cd04278	4505209,NP_002418
4322	1168998	Disease	p.His232Asn	VAR_063434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063434	- Metaphyseal anadysplasia type 1 (MANDP1) [MIM:602111]	SWISS	260	cd00203	4505209,NP_002418
4313	116856	Disease	p.Arg101His	VAR_032423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032423	- Torg-Winchester syndrome (TWS) [MIM:259600]	SWISS	No Domain	N/A	11342666,NP_004521
4313	116856	Disease	p.Glu404Lys	VAR_032425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032425	- Torg-Winchester syndrome (TWS) [MIM:259600]	SWISS	343	cd04278	11342666,NP_004521
4313	116856	Disease	p.Glu404Lys	VAR_032425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032425	- Torg-Winchester syndrome (TWS) [MIM:259600]	SWISS	345	pfam00413	11342666,NP_004521
4313	116856	Disease	p.Glu404Lys	VAR_032425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032425	- Torg-Winchester syndrome (TWS) [MIM:259600]	SWISS	209	cd04279	11342666,NP_004521
3110	259016336	Disease	p.Arg245Gly	VAR_017874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017874	- Currarino syndrome [MIM:176450]	SWISS	4	pfam00046	89257348,NP_005506
3110	259016336	Disease	p.Arg245Gly	VAR_017874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017874	- Currarino syndrome [MIM:176450]	SWISS	4	smart00389	89257348,NP_005506
3110	259016336	Disease	p.Arg245Gly	VAR_017874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017874	- Currarino syndrome [MIM:176450]	SWISS	4	cd00086	89257348,NP_005506
3110	259016336	Disease	p.Arg245His	VAR_017875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017875	- Currarino syndrome [MIM:176450]	SWISS	4	pfam00046	89257348,NP_005506
3110	259016336	Disease	p.Arg245His	VAR_017875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017875	- Currarino syndrome [MIM:176450]	SWISS	4	smart00389	89257348,NP_005506
3110	259016336	Disease	p.Arg245His	VAR_017875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017875	- Currarino syndrome [MIM:176450]	SWISS	4	cd00086	89257348,NP_005506
3110	259016336	Disease	p.Thr246Ser	VAR_017876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017876	- Currarino syndrome [MIM:176450]	SWISS	5	pfam00046	89257348,NP_005506
3110	259016336	Disease	p.Thr246Ser	VAR_017876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017876	- Currarino syndrome [MIM:176450]	SWISS	5	smart00389	89257348,NP_005506
3110	259016336	Disease	p.Thr246Ser	VAR_017876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017876	- Currarino syndrome [MIM:176450]	SWISS	5	cd00086	89257348,NP_005506
3110	259016336	Disease	p.Trp288Gly	VAR_017877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017877	- Currarino syndrome [MIM:176450]	SWISS	57	pfam00046	89257348,NP_005506
3110	259016336	Disease	p.Trp288Gly	VAR_017877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017877	- Currarino syndrome [MIM:176450]	SWISS	87	smart00389	89257348,NP_005506
3110	259016336	Disease	p.Trp288Gly	VAR_017877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017877	- Currarino syndrome [MIM:176450]	SWISS	79	cd00086	89257348,NP_005506
3110	259016336	Disease	p.Trp288Leu	VAR_017878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017878	- Currarino syndrome [MIM:176450]	SWISS	57	pfam00046	89257348,NP_005506
3110	259016336	Disease	p.Trp288Leu	VAR_017878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017878	- Currarino syndrome [MIM:176450]	SWISS	87	smart00389	89257348,NP_005506
3110	259016336	Disease	p.Trp288Leu	VAR_017878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017878	- Currarino syndrome [MIM:176450]	SWISS	79	cd00086	89257348,NP_005506
3110	259016336	Disease	p.Gln290Pro	VAR_017879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017879	- Currarino syndrome [MIM:176450]	SWISS	59	pfam00046	89257348,NP_005506
3110	259016336	Disease	p.Gln290Pro	VAR_017879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017879	- Currarino syndrome [MIM:176450]	SWISS	89	smart00389	89257348,NP_005506
3110	259016336	Disease	p.Gln290Pro	VAR_017879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017879	- Currarino syndrome [MIM:176450]	SWISS	81	cd00086	89257348,NP_005506
3110	259016336	Disease	p.Arg292Trp	VAR_017880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017880	- Currarino syndrome [MIM:176450]	SWISS	61	pfam00046	89257348,NP_005506
3110	259016336	Disease	p.Arg292Trp	VAR_017880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017880	- Currarino syndrome [MIM:176450]	SWISS	91	smart00389	89257348,NP_005506
3110	259016336	Disease	p.Arg292Trp	VAR_017880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017880	- Currarino syndrome [MIM:176450]	SWISS	83	cd00086	89257348,NP_005506
3110	259016336	Disease	p.Arg293Gln	VAR_017881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017881	- Currarino syndrome [MIM:176450]	SWISS	62	pfam00046	89257348,NP_005506
3110	259016336	Disease	p.Arg293Gln	VAR_017881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017881	- Currarino syndrome [MIM:176450]	SWISS	92	smart00389	89257348,NP_005506
3110	259016336	Disease	p.Arg293Gln	VAR_017881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017881	- Currarino syndrome [MIM:176450]	SWISS	84	cd00086	89257348,NP_005506
3110	259016336	Disease	p.Arg293Trp	VAR_017882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017882	- Currarino syndrome [MIM:176450]	SWISS	62	pfam00046	89257348,NP_005506
3110	259016336	Disease	p.Arg293Trp	VAR_017882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017882	- Currarino syndrome [MIM:176450]	SWISS	92	smart00389	89257348,NP_005506
3110	259016336	Disease	p.Arg293Trp	VAR_017882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017882	- Currarino syndrome [MIM:176450]	SWISS	84	cd00086	89257348,NP_005506
55034	296438294	Disease	p.Ala57Pro	VAR_027528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027528	- Xanthinuria type 2 (XU2) [MIM:603592]	SWISS	8	pfam00266	157388923,NP_060417
55034	296438294	Disease	p.Ala57Pro	VAR_027528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027528	- Xanthinuria type 2 (XU2) [MIM:603592]	SWISS	8	cd06453	157388923,NP_060417
55034	296438294	Disease	p.Ala57Pro	VAR_027528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027528	- Xanthinuria type 2 (XU2) [MIM:603592]	SWISS	58	COG0520	157388923,NP_060417
55034	296438294	Disease	p.Thr294Ile	VAR_027533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027533	- Xanthinuria type 2 (XU2) [MIM:603592]	SWISS	254	pfam00266	157388923,NP_060417
55034	296438294	Disease	p.Thr294Ile	VAR_027533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027533	- Xanthinuria type 2 (XU2) [MIM:603592]	SWISS	249	cd06453	157388923,NP_060417
55034	296438294	Disease	p.Thr294Ile	VAR_027533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027533	- Xanthinuria type 2 (XU2) [MIM:603592]	SWISS	327	COG0520	157388923,NP_060417
55034	296438294	Disease	p.Arg776Cys	VAR_045899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045899	- Xanthinuria type 2 (XU2) [MIM:603592]	SWISS	185	COG3217	157388923,NP_060417
55034	296438294	Disease	p.Arg776Cys	VAR_045899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045899	- Xanthinuria type 2 (XU2) [MIM:603592]	SWISS	81	pfam03473	157388923,NP_060417
4337	30913216	Disease	p.Arg67Trp	VAR_054823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054823	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	80_G	COG5014	NULL
4337	30913216	Disease	p.Arg67Trp	VAR_054823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054823	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	19	COG0535	NULL
4337	30913216	Disease	p.Arg67Trp	VAR_054823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054823	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	8	COG2896	NULL
4337	30913216	Disease	p.Arg67Trp	VAR_054823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054823	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	29	COG0641	NULL
4337	30913216	Disease	p.Arg73Trp	VAR_015658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015658	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	4	smart00729	NULL
4337	30913216	Disease	p.Arg73Trp	VAR_015658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015658	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	80_G	COG5014	NULL
4337	30913216	Disease	p.Arg73Trp	VAR_015658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015658	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	25	COG0535	NULL
4337	30913216	Disease	p.Arg73Trp	VAR_015658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015658	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	14	COG2896	NULL
4337	30913216	Disease	p.Arg73Trp	VAR_015658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015658	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	35	COG0641	NULL
4337	30913216	Disease	p.Cys80Gly	VAR_054824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054824	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	7	pfam04055	NULL
4337	30913216	Disease	p.Cys80Gly	VAR_054824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054824	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	8	cd01335	NULL
4337	30913216	Disease	p.Cys80Gly	VAR_054824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054824	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	14	smart00729	NULL
4337	30913216	Disease	p.Cys80Gly	VAR_054824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054824	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	81	COG5014	NULL
4337	30913216	Disease	p.Cys80Gly	VAR_054824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054824	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	32	COG0535	NULL
4337	30913216	Disease	p.Cys80Gly	VAR_054824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054824	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	21	COG2896	NULL
4337	30913216	Disease	p.Cys80Gly	VAR_054824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054824	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	83	COG0641	NULL
4337	30913216	Disease	p.Cys84Phe	VAR_054825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054825	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	16	pfam04055	NULL
4337	30913216	Disease	p.Cys84Phe	VAR_054825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054825	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	18	cd01335	NULL
4337	30913216	Disease	p.Cys84Phe	VAR_054825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054825	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	48	smart00729	NULL
4337	30913216	Disease	p.Cys84Phe	VAR_054825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054825	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	85	COG5014	NULL
4337	30913216	Disease	p.Cys84Phe	VAR_054825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054825	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	36	COG0535	NULL
4337	30913216	Disease	p.Cys84Phe	VAR_054825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054825	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	25	COG2896	NULL
4337	30913216	Disease	p.Cys84Phe	VAR_054825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054825	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	87	COG0641	NULL
4337	30913216	Disease	p.Arg123Trp	VAR_054826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054826	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	120	pfam04055	NULL
4337	30913216	Disease	p.Arg123Trp	VAR_054826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054826	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	108	cd01335	NULL
4337	30913216	Disease	p.Arg123Trp	VAR_054826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054826	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	192	smart00729	NULL
4337	30913216	Disease	p.Arg123Trp	VAR_054826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054826	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	127	COG5014	NULL
4337	30913216	Disease	p.Arg123Trp	VAR_054826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054826	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	94	COG0535	NULL
4337	30913216	Disease	p.Arg123Trp	VAR_054826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054826	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	71	COG2896	NULL
4337	30913216	Disease	p.Arg123Trp	VAR_054826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054826	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	136	COG0641	NULL
4337	30913216	Disease	p.Gly126Asp	VAR_015659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015659	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	144	pfam04055	NULL
4337	30913216	Disease	p.Gly126Asp	VAR_015659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015659	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	112	cd01335	NULL
4337	30913216	Disease	p.Gly126Asp	VAR_015659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015659	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	208	smart00729	NULL
4337	30913216	Disease	p.Gly126Asp	VAR_015659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015659	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	130	COG5014	NULL
4337	30913216	Disease	p.Gly126Asp	VAR_015659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015659	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	97	COG0535	NULL
4337	30913216	Disease	p.Gly126Asp	VAR_015659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015659	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	74	COG2896	NULL
4337	30913216	Disease	p.Gly126Asp	VAR_015659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015659	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	139	COG0641	NULL
4337	30913216	Disease	p.Gly127Asp	VAR_015660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015660	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	145	pfam04055	NULL
4337	30913216	Disease	p.Gly127Asp	VAR_015660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015660	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	113	cd01335	NULL
4337	30913216	Disease	p.Gly127Asp	VAR_015660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015660	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	230	smart00729	NULL
4337	30913216	Disease	p.Gly127Asp	VAR_015660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015660	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	131	COG5014	NULL
4337	30913216	Disease	p.Gly127Asp	VAR_015660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015660	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	98	COG0535	NULL
4337	30913216	Disease	p.Gly127Asp	VAR_015660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015660	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	75	COG2896	NULL
4337	30913216	Disease	p.Gly127Asp	VAR_015660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015660	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	140	COG0641	NULL
4337	30913216	Disease	p.Arg319Gln	VAR_015661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015661	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	123	pfam06463	NULL
4337	30913216	Disease	p.Arg319Gln	VAR_015661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015661	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	383	COG0535	NULL
4337	30913216	Disease	p.Arg319Gln	VAR_015661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015661	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	299	COG2896	NULL
4337	30913216	Disease	p.Arg319Gln	VAR_015661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015661	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	450	COG0641	NULL
4337	30913216	Disease	p.Gly324Glu	VAR_015662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015662	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	128	pfam06463	NULL
4337	30913216	Disease	p.Gly324Glu	VAR_015662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015662	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	388	COG0535	NULL
4337	30913216	Disease	p.Gly324Glu	VAR_015662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015662	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	304	COG2896	NULL
4337	30913216	Disease	p.Gly324Glu	VAR_015662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015662	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	455	COG0641	NULL
4337	30913216	Disease	p.Gly324Arg	VAR_054827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054827	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	128	pfam06463	NULL
4337	30913216	Disease	p.Gly324Arg	VAR_054827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054827	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	388	COG0535	NULL
4337	30913216	Disease	p.Gly324Arg	VAR_054827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054827	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	304	COG2896	NULL
4337	30913216	Disease	p.Gly324Arg	VAR_054827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054827	- Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]	SWISS	455	COG0641	NULL
4338	20138900	Disease	p.Val7Phe	VAR_054854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054854	- Molybdenum cofactor deficiency type B (MOCOD type B) [MIM:252150]	SWISS	2	COG1977	28631173,NP_789776
4338	20138899	Disease	p.Glu168Lys	VAR_012765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012765	- Molybdenum cofactor deficiency type B (MOCOD type B) [MIM:252150]	SWISS	144	COG0314	4758732,NP_004522
4338	20138899	Disease	p.Glu168Lys	VAR_012765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012765	- Molybdenum cofactor deficiency type B (MOCOD type B) [MIM:252150]	SWISS	158	cd00756	4758732,NP_004522
7841	116242490	Disease	p.Arg486Thr	VAR_018966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018966	- Type IIb congenital disorder of glycosylation (CDGIIb) [MIM:606056]	SWISS	624	pfam03200	149999606,NP_006293
7841	116242490	Disease	p.Phe652Leu	VAR_018967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018967	- Type IIb congenital disorder of glycosylation (CDGIIb) [MIM:606056]	SWISS	853	pfam03200	149999606,NP_006293
9526	215274025	Disease	p.Gly73Glu	VAR_021388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021388	- Congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180]	SWISS	33	pfam04193	116517313,NP_004861
9526	215274025	Disease	p.Gly73Glu	VAR_021388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021388	- Congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180]	SWISS	19	smart00679	116517313,NP_004861
9526	215274025	Disease	p.Leu74Ser	VAR_021389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021389	- Congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180]	SWISS	35	pfam04193	116517313,NP_004861
9526	215274025	Disease	p.Leu74Ser	VAR_021389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021389	- Congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180]	SWISS	20	smart00679	116517313,NP_004861
9526	215274025	Disease	p.Leu119Pro	VAR_021390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021390	- Congenital disorder of glycosylation type 1F (CDG1F) [MIM:609180]	SWISS	No Domain	N/A	116517313,NP_004861
4351	462567	Disease	p.Met51Thr	VAR_022516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022516	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	50	pfam01238	4505235,NP_002426
4351	462567	Disease	p.Met51Thr	VAR_022516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022516	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	48	COG1482	4505235,NP_002426
4351	462567	Disease	p.Ser102Leu	VAR_012338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012338	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	113	pfam01238	4505235,NP_002426
4351	462567	Disease	p.Ser102Leu	VAR_012338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012338	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	105	COG1482	4505235,NP_002426
4351	462567	Disease	p.Tyr129Cys	VAR_022517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022517	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	150	pfam01238	4505235,NP_002426
4351	462567	Disease	p.Tyr129Cys	VAR_022517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022517	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	142	COG1482	4505235,NP_002426
4351	462567	Disease	p.Asp131Asn	VAR_022518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022518	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	152	pfam01238	4505235,NP_002426
4351	462567	Disease	p.Asp131Asn	VAR_022518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022518	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	144	COG1482	4505235,NP_002426
4351	462567	Disease	p.Met138Thr	VAR_012339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012339	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	159	pfam01238	4505235,NP_002426
4351	462567	Disease	p.Met138Thr	VAR_012339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012339	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	151	COG1482	4505235,NP_002426
4351	462567	Disease	p.Ile140Thr	VAR_012345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012345	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	161	pfam01238	4505235,NP_002426
4351	462567	Disease	p.Ile140Thr	VAR_012345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012345	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	153	COG1482	4505235,NP_002426
4351	462567	Disease	p.Arg152Gln	VAR_022519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022519	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	173	pfam01238	4505235,NP_002426
4351	462567	Disease	p.Arg152Gln	VAR_022519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022519	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	165	COG1482	4505235,NP_002426
4351	462567	Disease	p.Arg219Gln	VAR_012340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012340	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	248	pfam01238	4505235,NP_002426
4351	462567	Disease	p.Arg219Gln	VAR_012340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012340	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	237	COG1482	4505235,NP_002426
4351	462567	Disease	p.Gly250Ser	VAR_022520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022520	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	289	pfam01238	4505235,NP_002426
4351	462567	Disease	p.Gly250Ser	VAR_022520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022520	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	270	COG1482	4505235,NP_002426
4351	462567	Disease	p.Tyr255Cys	VAR_022521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022521	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	295	pfam01238	4505235,NP_002426
4351	462567	Disease	p.Tyr255Cys	VAR_022521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022521	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	276	COG1482	4505235,NP_002426
4351	462567	Disease	p.Arg295His	VAR_022522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022522	rs28928906 Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	345	pfam01238	4505235,NP_002426
4351	462567	Disease	p.Arg295His	VAR_022522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022522	rs28928906 Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	317	COG1482	4505235,NP_002426
4351	462567	Disease	p.Ile398Thr	VAR_022523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022523	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	433	COG1482	4505235,NP_002426
4351	462567	Disease	p.Arg418His	VAR_022524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022524	- Congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]	SWISS	453	COG1482	4505235,NP_002426
4353	129825	Disease	p.Tyr173Cys	VAR_015377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015377	- Myeloperoxidase deficiency (MPD) [MIM:254600]	SWISS	No Domain	N/A	4557759,NP_000241
4353	129825	Disease	p.Met251Thr	VAR_015378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015378	rs56378716 Myeloperoxidase deficiency (MPD) [MIM:254600]	SWISS	152	pfam03098	4557759,NP_000241
4353	129825	Disease	p.Arg569Trp	VAR_015379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015379	- Myeloperoxidase deficiency (MPD) [MIM:254600]	SWISS	1286	pfam03098	4557759,NP_000241
4358	730059	Disease	p.Arg50Gln	VAR_026217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026217	- Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]	SWISS	No Domain	N/A	4505241,NP_002428
4358	730059	Disease	p.Arg50Gln	VAR_026217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026217	- Navajo neurohepatopathy (NN) [MIM:256810]	SWISS	No Domain	N/A	4505241,NP_002428
4358	730059	Disease	p.Arg50Trp	VAR_026218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026218	- Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]	SWISS	No Domain	N/A	4505241,NP_002428
4358	730059	Disease	p.Asn166Lys	VAR_026219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026219	- Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]	SWISS	76	pfam04117	4505241,NP_002428
4359	127721	Disease	p.Ile30Met	VAR_004500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004500	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	No Domain	N/A	295391071,NP_000521
4359	127721	Disease	p.Val32Phe	VAR_004501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004501	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	2	cd05715	295391071,NP_000521
4359	127721	Disease	p.Val32Phe	VAR_004501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004501	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	2	cd05879	295391071,NP_000521
4359	127721	Disease	p.Thr34Ile	VAR_004502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004502	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	4	cd05880	295391071,NP_000521
4359	127721	Disease	p.Thr34Ile	VAR_004502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004502	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	4	cd05715	295391071,NP_000521
4359	127721	Disease	p.Thr34Ile	VAR_004502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004502	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	4	cd05879	295391071,NP_000521
4359	127721	Disease	p.Asp35Tyr	VAR_015971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015971	- Charcot-Marie-Tooth disease dominant intermediate type D (CMTDID) [MIM:607791]	SWISS	5	cd05880	295391071,NP_000521
4359	127721	Disease	p.Asp35Tyr	VAR_015971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015971	- Charcot-Marie-Tooth disease dominant intermediate type D (CMTDID) [MIM:607791]	SWISS	5	cd05715	295391071,NP_000521
4359	127721	Disease	p.Asp35Tyr	VAR_015971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015971	- Charcot-Marie-Tooth disease dominant intermediate type D (CMTDID) [MIM:607791]	SWISS	5	cd05879	295391071,NP_000521
4359	127721	Disease	p.His39Pro	VAR_054393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054393	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	5	smart00409	295391071,NP_000521
4359	127721	Disease	p.His39Pro	VAR_054393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054393	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	5	smart00410	295391071,NP_000521
4359	127721	Disease	p.His39Pro	VAR_054393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054393	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	9	cd05880	295391071,NP_000521
4359	127721	Disease	p.His39Pro	VAR_054393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054393	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	3	pfam07686	295391071,NP_000521
4359	127721	Disease	p.His39Pro	VAR_054393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054393	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	9	cd05715	295391071,NP_000521
4359	127721	Disease	p.His39Pro	VAR_054393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054393	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	9	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ser44Phe	VAR_004503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004503	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	12	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ser44Phe	VAR_004503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004503	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	12	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ser44Phe	VAR_004503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004503	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	14	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ser44Phe	VAR_004503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004503	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	8	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ser44Phe	VAR_004503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004503	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	14	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ser44Phe	VAR_004503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004503	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	14	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ser44Phe	VAR_004503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004503	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	12	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ser44Phe	VAR_004503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004503	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	12	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ser44Phe	VAR_004503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004503	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	14	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ser44Phe	VAR_004503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004503	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	8	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ser44Phe	VAR_004503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004503	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	14	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ser44Phe	VAR_004503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004503	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	14	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ser51Phe	VAR_029971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029971	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	19	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ser51Phe	VAR_029971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029971	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	19	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ser51Phe	VAR_029971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029971	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	21	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ser51Phe	VAR_029971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029971	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	6	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ser51Phe	VAR_029971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029971	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	15	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ser51Phe	VAR_029971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029971	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	7	smart00406	295391071,NP_000521
4359	127721	Disease	p.Ser51Phe	VAR_029971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029971	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	21	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ser51Phe	VAR_029971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029971	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	21	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ser51Phe	VAR_029971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029971	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	8	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ser51Phe	VAR_029971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029971	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	8	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ser54Cys	VAR_004504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004504	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	23	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ser54Cys	VAR_004504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004504	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	23	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ser54Cys	VAR_004504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004504	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	24	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ser54Cys	VAR_004504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004504	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	9	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ser54Cys	VAR_004504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004504	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	18	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ser54Cys	VAR_004504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004504	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	10	smart00406	295391071,NP_000521
4359	127721	Disease	p.Ser54Cys	VAR_004504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004504	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	24	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ser54Cys	VAR_004504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004504	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	24	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ser54Cys	VAR_004504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004504	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	11	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ser54Cys	VAR_004504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004504	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	11	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ser54Pro	VAR_004505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004505	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	23	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ser54Pro	VAR_004505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004505	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	23	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ser54Pro	VAR_004505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004505	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	24	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ser54Pro	VAR_004505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004505	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	9	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ser54Pro	VAR_004505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004505	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	18	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ser54Pro	VAR_004505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004505	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	10	smart00406	295391071,NP_000521
4359	127721	Disease	p.Ser54Pro	VAR_004505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004505	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	24	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ser54Pro	VAR_004505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004505	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	24	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ser54Pro	VAR_004505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004505	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	11	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ser54Pro	VAR_004505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004505	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	11	cd05886	295391071,NP_000521
4359	127721	Disease	p.Val58Phe	VAR_004506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004506	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	35	smart00409	295391071,NP_000521
4359	127721	Disease	p.Val58Phe	VAR_004506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004506	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	35	smart00410	295391071,NP_000521
4359	127721	Disease	p.Val58Phe	VAR_004506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004506	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	28	cd05880	295391071,NP_000521
4359	127721	Disease	p.Val58Phe	VAR_004506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004506	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	23	cd00096	295391071,NP_000521
4359	127721	Disease	p.Val58Phe	VAR_004506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004506	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	27	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Val58Phe	VAR_004506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004506	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	16	smart00406	295391071,NP_000521
4359	127721	Disease	p.Val58Phe	VAR_004506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004506	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	28	cd05715	295391071,NP_000521
4359	127721	Disease	p.Val58Phe	VAR_004506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004506	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	28	cd05879	295391071,NP_000521
4359	127721	Disease	p.Val58Phe	VAR_004506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004506	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	16	cd05718	295391071,NP_000521
4359	127721	Disease	p.Val58Phe	VAR_004506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004506	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	15	cd05886	295391071,NP_000521
4359	127721	Disease	p.Asp60His	VAR_029972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029972	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	37	smart00409	295391071,NP_000521
4359	127721	Disease	p.Asp60His	VAR_029972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029972	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	37	smart00410	295391071,NP_000521
4359	127721	Disease	p.Asp60His	VAR_029972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029972	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	31	cd05880	295391071,NP_000521
4359	127721	Disease	p.Asp60His	VAR_029972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029972	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	25	cd00096	295391071,NP_000521
4359	127721	Disease	p.Asp60His	VAR_029972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029972	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	29	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Asp60His	VAR_029972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029972	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	23	smart00406	295391071,NP_000521
4359	127721	Disease	p.Asp60His	VAR_029972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029972	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	31	cd05715	295391071,NP_000521
4359	127721	Disease	p.Asp60His	VAR_029972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029972	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	30	cd05879	295391071,NP_000521
4359	127721	Disease	p.Asp60His	VAR_029972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029972	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	18	cd05718	295391071,NP_000521
4359	127721	Disease	p.Asp60His	VAR_029972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029972	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	17	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ile62Phe	VAR_015972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015972	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	39	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ile62Phe	VAR_015972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015972	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	39	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ile62Phe	VAR_015972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015972	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	33	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ile62Phe	VAR_015972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015972	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	27	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ile62Phe	VAR_015972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015972	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	31	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ile62Phe	VAR_015972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015972	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	25	smart00406	295391071,NP_000521
4359	127721	Disease	p.Ile62Phe	VAR_015972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015972	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	33	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ile62Phe	VAR_015972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015972	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	32	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ile62Phe	VAR_015972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015972	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	20	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ile62Phe	VAR_015972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015972	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	19	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ile62Met	VAR_029973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029973	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	39	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ile62Met	VAR_029973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029973	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	39	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ile62Met	VAR_029973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029973	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	33	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ile62Met	VAR_029973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029973	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	27	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ile62Met	VAR_029973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029973	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	31	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ile62Met	VAR_029973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029973	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	25	smart00406	295391071,NP_000521
4359	127721	Disease	p.Ile62Met	VAR_029973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029973	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	33	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ile62Met	VAR_029973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029973	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	32	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ile62Met	VAR_029973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029973	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	20	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ile62Met	VAR_029973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029973	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	19	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ser63Cys	VAR_004508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004508	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	44	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ser63Cys	VAR_004508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004508	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	44	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ser63Cys	VAR_004508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004508	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	34	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ser63Cys	VAR_004508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004508	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	28	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ser63Cys	VAR_004508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004508	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	33	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ser63Cys	VAR_004508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004508	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	27	smart00406	295391071,NP_000521
4359	127721	Disease	p.Ser63Cys	VAR_004508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004508	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	34	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ser63Cys	VAR_004508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004508	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	33	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ser63Cys	VAR_004508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004508	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	21	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ser63Cys	VAR_004508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004508	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	20	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ser63Phe	VAR_004509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004509	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	44	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ser63Phe	VAR_004509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004509	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	44	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ser63Phe	VAR_004509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004509	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	34	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ser63Phe	VAR_004509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004509	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	28	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ser63Phe	VAR_004509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004509	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	33	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ser63Phe	VAR_004509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004509	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	27	smart00406	295391071,NP_000521
4359	127721	Disease	p.Ser63Phe	VAR_004509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004509	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	34	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ser63Phe	VAR_004509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004509	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	33	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ser63Phe	VAR_004509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004509	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	21	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ser63Phe	VAR_004509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004509	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	20	cd05886	295391071,NP_000521
4359	127721	Disease	p.Thr65Ala	VAR_031886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031886	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	46	smart00409	295391071,NP_000521
4359	127721	Disease	p.Thr65Ala	VAR_031886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031886	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	46	smart00410	295391071,NP_000521
4359	127721	Disease	p.Thr65Ala	VAR_031886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031886	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	36	cd05880	295391071,NP_000521
4359	127721	Disease	p.Thr65Ala	VAR_031886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031886	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	30	cd00096	295391071,NP_000521
4359	127721	Disease	p.Thr65Ala	VAR_031886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031886	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	35	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Thr65Ala	VAR_031886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031886	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	29	smart00406	295391071,NP_000521
4359	127721	Disease	p.Thr65Ala	VAR_031886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031886	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	36	cd05715	295391071,NP_000521
4359	127721	Disease	p.Thr65Ala	VAR_031886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031886	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	35	cd05879	295391071,NP_000521
4359	127721	Disease	p.Thr65Ala	VAR_031886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031886	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	23	cd05718	295391071,NP_000521
4359	127721	Disease	p.Thr65Ala	VAR_031886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031886	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	22	cd05886	295391071,NP_000521
4359	127721	Disease	p.Thr65Ile	VAR_029974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029974	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	46	smart00409	295391071,NP_000521
4359	127721	Disease	p.Thr65Ile	VAR_029974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029974	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	46	smart00410	295391071,NP_000521
4359	127721	Disease	p.Thr65Ile	VAR_029974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029974	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	36	cd05880	295391071,NP_000521
4359	127721	Disease	p.Thr65Ile	VAR_029974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029974	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	30	cd00096	295391071,NP_000521
4359	127721	Disease	p.Thr65Ile	VAR_029974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029974	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	35	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Thr65Ile	VAR_029974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029974	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	29	smart00406	295391071,NP_000521
4359	127721	Disease	p.Thr65Ile	VAR_029974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029974	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	36	cd05715	295391071,NP_000521
4359	127721	Disease	p.Thr65Ile	VAR_029974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029974	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	35	cd05879	295391071,NP_000521
4359	127721	Disease	p.Thr65Ile	VAR_029974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029974	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	23	cd05718	295391071,NP_000521
4359	127721	Disease	p.Thr65Ile	VAR_029974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029974	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	22	cd05886	295391071,NP_000521
4359	127721	Disease	p.Tyr68Cys	VAR_004511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004511	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	54	smart00409	295391071,NP_000521
4359	127721	Disease	p.Tyr68Cys	VAR_004511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004511	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	54	smart00410	295391071,NP_000521
4359	127721	Disease	p.Tyr68Cys	VAR_004511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004511	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	39	cd05880	295391071,NP_000521
4359	127721	Disease	p.Tyr68Cys	VAR_004511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004511	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	33	cd00096	295391071,NP_000521
4359	127721	Disease	p.Tyr68Cys	VAR_004511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004511	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	38	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Tyr68Cys	VAR_004511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004511	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	32	smart00406	295391071,NP_000521
4359	127721	Disease	p.Tyr68Cys	VAR_004511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004511	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	39	cd05715	295391071,NP_000521
4359	127721	Disease	p.Tyr68Cys	VAR_004511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004511	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	38	cd05879	295391071,NP_000521
4359	127721	Disease	p.Tyr68Cys	VAR_004511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004511	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	26	cd05718	295391071,NP_000521
4359	127721	Disease	p.Tyr68Cys	VAR_004511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004511	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	25	cd05886	295391071,NP_000521
4359	127721	Disease	p.Asp75Val	VAR_015973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015973	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	78	smart00409	295391071,NP_000521
4359	127721	Disease	p.Asp75Val	VAR_015973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015973	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	78	smart00410	295391071,NP_000521
4359	127721	Disease	p.Asp75Val	VAR_015973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015973	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	46	cd05880	295391071,NP_000521
4359	127721	Disease	p.Asp75Val	VAR_015973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015973	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	40	cd00096	295391071,NP_000521
4359	127721	Disease	p.Asp75Val	VAR_015973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015973	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	45	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Asp75Val	VAR_015973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015973	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	42	smart00406	295391071,NP_000521
4359	127721	Disease	p.Asp75Val	VAR_015973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015973	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	46	cd05715	295391071,NP_000521
4359	127721	Disease	p.Asp75Val	VAR_015973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015973	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	45	cd05879	295391071,NP_000521
4359	127721	Disease	p.Asp75Val	VAR_015973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015973	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	34	cd05718	295391071,NP_000521
4359	127721	Disease	p.Asp75Val	VAR_015973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015973	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	32	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ser78Leu	VAR_004512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004512	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	94	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ser78Leu	VAR_004512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004512	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	94	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ser78Leu	VAR_004512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004512	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	49	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ser78Leu	VAR_004512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004512	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	43	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ser78Leu	VAR_004512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004512	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	48	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ser78Leu	VAR_004512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004512	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	45	smart00406	295391071,NP_000521
4359	127721	Disease	p.Ser78Leu	VAR_004512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004512	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	49	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ser78Leu	VAR_004512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004512	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	48	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ser78Leu	VAR_004512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004512	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	37	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ser78Leu	VAR_004512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004512	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	35	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ser78Trp	VAR_031887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031887	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	94	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ser78Trp	VAR_031887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031887	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	94	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ser78Trp	VAR_031887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031887	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	49	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ser78Trp	VAR_031887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031887	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	43	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ser78Trp	VAR_031887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031887	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	48	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ser78Trp	VAR_031887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031887	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	45	smart00406	295391071,NP_000521
4359	127721	Disease	p.Ser78Trp	VAR_031887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031887	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	49	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ser78Trp	VAR_031887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031887	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	48	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ser78Trp	VAR_031887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031887	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	37	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ser78Trp	VAR_031887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031887	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	35	cd05886	295391071,NP_000521
4359	127721	Disease	p.His81Arg	VAR_004513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004513	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	97	smart00409	295391071,NP_000521
4359	127721	Disease	p.His81Arg	VAR_004513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004513	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	97	smart00410	295391071,NP_000521
4359	127721	Disease	p.His81Arg	VAR_004513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004513	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	52	cd05880	295391071,NP_000521
4359	127721	Disease	p.His81Arg	VAR_004513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004513	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	46	cd00096	295391071,NP_000521
4359	127721	Disease	p.His81Arg	VAR_004513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004513	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	51	pfam07686	295391071,NP_000521
4359	127721	Disease	p.His81Arg	VAR_004513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004513	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	48	smart00406	295391071,NP_000521
4359	127721	Disease	p.His81Arg	VAR_004513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004513	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	52	cd05715	295391071,NP_000521
4359	127721	Disease	p.His81Arg	VAR_004513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004513	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	51	cd05879	295391071,NP_000521
4359	127721	Disease	p.His81Arg	VAR_004513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004513	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	40	cd05718	295391071,NP_000521
4359	127721	Disease	p.His81Arg	VAR_004513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004513	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	38	cd05886	295391071,NP_000521
4359	127721	Disease	p.Tyr82Cys	VAR_004514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004514	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	98	smart00409	295391071,NP_000521
4359	127721	Disease	p.Tyr82Cys	VAR_004514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004514	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	98	smart00410	295391071,NP_000521
4359	127721	Disease	p.Tyr82Cys	VAR_004514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004514	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	53	cd05880	295391071,NP_000521
4359	127721	Disease	p.Tyr82Cys	VAR_004514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004514	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	47	cd00096	295391071,NP_000521
4359	127721	Disease	p.Tyr82Cys	VAR_004514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004514	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	52	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Tyr82Cys	VAR_004514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004514	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	49	smart00406	295391071,NP_000521
4359	127721	Disease	p.Tyr82Cys	VAR_004514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004514	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	53	cd05715	295391071,NP_000521
4359	127721	Disease	p.Tyr82Cys	VAR_004514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004514	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	52	cd05879	295391071,NP_000521
4359	127721	Disease	p.Tyr82Cys	VAR_004514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004514	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	41	cd05718	295391071,NP_000521
4359	127721	Disease	p.Tyr82Cys	VAR_004514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004514	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	39	cd05886	295391071,NP_000521
4359	127721	Disease	p.Tyr82Cys	VAR_004514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004514	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	98	smart00409	295391071,NP_000521
4359	127721	Disease	p.Tyr82Cys	VAR_004514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004514	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	98	smart00410	295391071,NP_000521
4359	127721	Disease	p.Tyr82Cys	VAR_004514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004514	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	53	cd05880	295391071,NP_000521
4359	127721	Disease	p.Tyr82Cys	VAR_004514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004514	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	47	cd00096	295391071,NP_000521
4359	127721	Disease	p.Tyr82Cys	VAR_004514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004514	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	52	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Tyr82Cys	VAR_004514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004514	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	49	smart00406	295391071,NP_000521
4359	127721	Disease	p.Tyr82Cys	VAR_004514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004514	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	53	cd05715	295391071,NP_000521
4359	127721	Disease	p.Tyr82Cys	VAR_004514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004514	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	52	cd05879	295391071,NP_000521
4359	127721	Disease	p.Tyr82Cys	VAR_004514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004514	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	41	cd05718	295391071,NP_000521
4359	127721	Disease	p.Tyr82Cys	VAR_004514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004514	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	39	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ile89Asn	VAR_015974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015974	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	110	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ile89Asn	VAR_015974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015974	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	110	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ile89Asn	VAR_015974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015974	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	59	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ile89Asn	VAR_015974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015974	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	71	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ile89Asn	VAR_015974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015974	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	59	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ile89Asn	VAR_015974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015974	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	65	smart00406	295391071,NP_000521
4359	127721	Disease	p.Ile89Asn	VAR_015974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015974	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	60	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ile89Asn	VAR_015974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015974	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	59	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ile89Asn	VAR_015974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015974	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	47	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ile89Asn	VAR_015974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015974	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	50	cd05886	295391071,NP_000521
4359	127721	Disease	p.Asp90Glu	VAR_004515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004515	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	111	smart00409	295391071,NP_000521
4359	127721	Disease	p.Asp90Glu	VAR_004515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004515	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	111	smart00410	295391071,NP_000521
4359	127721	Disease	p.Asp90Glu	VAR_004515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004515	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	60	cd05880	295391071,NP_000521
4359	127721	Disease	p.Asp90Glu	VAR_004515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004515	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	72	cd00096	295391071,NP_000521
4359	127721	Disease	p.Asp90Glu	VAR_004515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004515	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	60	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Asp90Glu	VAR_004515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004515	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	66	smart00406	295391071,NP_000521
4359	127721	Disease	p.Asp90Glu	VAR_004515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004515	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	63	cd05715	295391071,NP_000521
4359	127721	Disease	p.Asp90Glu	VAR_004515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004515	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	60	cd05879	295391071,NP_000521
4359	127721	Disease	p.Asp90Glu	VAR_004515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004515	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	48	cd05718	295391071,NP_000521
4359	127721	Disease	p.Asp90Glu	VAR_004515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004515	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	51	cd05886	295391071,NP_000521
4359	127721	Disease	p.Val92Met	VAR_015975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015975	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	113	smart00409	295391071,NP_000521
4359	127721	Disease	p.Val92Met	VAR_015975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015975	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	113	smart00410	295391071,NP_000521
4359	127721	Disease	p.Val92Met	VAR_015975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015975	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	62	cd05880	295391071,NP_000521
4359	127721	Disease	p.Val92Met	VAR_015975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015975	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	74	cd00096	295391071,NP_000521
4359	127721	Disease	p.Val92Met	VAR_015975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015975	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	76	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Val92Met	VAR_015975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015975	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	68	smart00406	295391071,NP_000521
4359	127721	Disease	p.Val92Met	VAR_015975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015975	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	65	cd05715	295391071,NP_000521
4359	127721	Disease	p.Val92Met	VAR_015975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015975	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	62	cd05879	295391071,NP_000521
4359	127721	Disease	p.Val92Met	VAR_015975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015975	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	50	cd05718	295391071,NP_000521
4359	127721	Disease	p.Val92Met	VAR_015975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015975	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	53	cd05886	295391071,NP_000521
4359	127721	Disease	p.Gly93Glu	VAR_004516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004516	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	114	smart00409	295391071,NP_000521
4359	127721	Disease	p.Gly93Glu	VAR_004516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004516	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	114	smart00410	295391071,NP_000521
4359	127721	Disease	p.Gly93Glu	VAR_004516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004516	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	63	cd05880	295391071,NP_000521
4359	127721	Disease	p.Gly93Glu	VAR_004516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004516	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	75	cd00096	295391071,NP_000521
4359	127721	Disease	p.Gly93Glu	VAR_004516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004516	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	77	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Gly93Glu	VAR_004516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004516	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	81	smart00406	295391071,NP_000521
4359	127721	Disease	p.Gly93Glu	VAR_004516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004516	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	66	cd05715	295391071,NP_000521
4359	127721	Disease	p.Gly93Glu	VAR_004516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004516	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	63	cd05879	295391071,NP_000521
4359	127721	Disease	p.Gly93Glu	VAR_004516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004516	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	51	cd05718	295391071,NP_000521
4359	127721	Disease	p.Gly93Glu	VAR_004516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004516	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	53_G	cd05886	295391071,NP_000521
4359	127721	Disease	p.Lys96Glu	VAR_004517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004517	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	117	smart00409	295391071,NP_000521
4359	127721	Disease	p.Lys96Glu	VAR_004517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004517	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	117	smart00410	295391071,NP_000521
4359	127721	Disease	p.Lys96Glu	VAR_004517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004517	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	66	cd05880	295391071,NP_000521
4359	127721	Disease	p.Lys96Glu	VAR_004517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004517	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	78	cd00096	295391071,NP_000521
4359	127721	Disease	p.Lys96Glu	VAR_004517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004517	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	80	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Lys96Glu	VAR_004517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004517	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	85	smart00406	295391071,NP_000521
4359	127721	Disease	p.Lys96Glu	VAR_004517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004517	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	69	cd05715	295391071,NP_000521
4359	127721	Disease	p.Lys96Glu	VAR_004517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004517	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	66	cd05879	295391071,NP_000521
4359	127721	Disease	p.Lys96Glu	VAR_004517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004517	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	54	cd05718	295391071,NP_000521
4359	127721	Disease	p.Lys96Glu	VAR_004517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004517	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	56	cd05886	295391071,NP_000521
4359	127721	Disease	p.Glu97Val	VAR_029975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029975	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	118	smart00409	295391071,NP_000521
4359	127721	Disease	p.Glu97Val	VAR_029975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029975	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	118	smart00410	295391071,NP_000521
4359	127721	Disease	p.Glu97Val	VAR_029975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029975	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	67	cd05880	295391071,NP_000521
4359	127721	Disease	p.Glu97Val	VAR_029975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029975	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	79	cd00096	295391071,NP_000521
4359	127721	Disease	p.Glu97Val	VAR_029975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029975	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	81	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Glu97Val	VAR_029975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029975	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	86	smart00406	295391071,NP_000521
4359	127721	Disease	p.Glu97Val	VAR_029975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029975	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	70	cd05715	295391071,NP_000521
4359	127721	Disease	p.Glu97Val	VAR_029975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029975	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	67	cd05879	295391071,NP_000521
4359	127721	Disease	p.Glu97Val	VAR_029975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029975	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	55	cd05718	295391071,NP_000521
4359	127721	Disease	p.Glu97Val	VAR_029975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029975	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	57	cd05886	295391071,NP_000521
4359	127721	Disease	p.Arg98Cys	VAR_004518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004518	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	121	smart00409	295391071,NP_000521
4359	127721	Disease	p.Arg98Cys	VAR_004518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004518	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	121	smart00410	295391071,NP_000521
4359	127721	Disease	p.Arg98Cys	VAR_004518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004518	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	68	cd05880	295391071,NP_000521
4359	127721	Disease	p.Arg98Cys	VAR_004518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004518	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	80	cd00096	295391071,NP_000521
4359	127721	Disease	p.Arg98Cys	VAR_004518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004518	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	82	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Arg98Cys	VAR_004518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004518	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	87	smart00406	295391071,NP_000521
4359	127721	Disease	p.Arg98Cys	VAR_004518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004518	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	71	cd05715	295391071,NP_000521
4359	127721	Disease	p.Arg98Cys	VAR_004518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004518	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	68	cd05879	295391071,NP_000521
4359	127721	Disease	p.Arg98Cys	VAR_004518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004518	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	56	cd05718	295391071,NP_000521
4359	127721	Disease	p.Arg98Cys	VAR_004518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004518	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	58	cd05886	295391071,NP_000521
4359	127721	Disease	p.Arg98His	VAR_004519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004519	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	121	smart00409	295391071,NP_000521
4359	127721	Disease	p.Arg98His	VAR_004519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004519	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	121	smart00410	295391071,NP_000521
4359	127721	Disease	p.Arg98His	VAR_004519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004519	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	68	cd05880	295391071,NP_000521
4359	127721	Disease	p.Arg98His	VAR_004519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004519	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	80	cd00096	295391071,NP_000521
4359	127721	Disease	p.Arg98His	VAR_004519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004519	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	82	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Arg98His	VAR_004519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004519	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	87	smart00406	295391071,NP_000521
4359	127721	Disease	p.Arg98His	VAR_004519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004519	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	71	cd05715	295391071,NP_000521
4359	127721	Disease	p.Arg98His	VAR_004519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004519	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	68	cd05879	295391071,NP_000521
4359	127721	Disease	p.Arg98His	VAR_004519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004519	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	56	cd05718	295391071,NP_000521
4359	127721	Disease	p.Arg98His	VAR_004519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004519	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	58	cd05886	295391071,NP_000521
4359	127721	Disease	p.Arg98Pro	VAR_004520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004520	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	121	smart00409	295391071,NP_000521
4359	127721	Disease	p.Arg98Pro	VAR_004520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004520	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	121	smart00410	295391071,NP_000521
4359	127721	Disease	p.Arg98Pro	VAR_004520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004520	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	68	cd05880	295391071,NP_000521
4359	127721	Disease	p.Arg98Pro	VAR_004520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004520	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	80	cd00096	295391071,NP_000521
4359	127721	Disease	p.Arg98Pro	VAR_004520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004520	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	82	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Arg98Pro	VAR_004520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004520	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	87	smart00406	295391071,NP_000521
4359	127721	Disease	p.Arg98Pro	VAR_004520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004520	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	71	cd05715	295391071,NP_000521
4359	127721	Disease	p.Arg98Pro	VAR_004520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004520	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	68	cd05879	295391071,NP_000521
4359	127721	Disease	p.Arg98Pro	VAR_004520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004520	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	56	cd05718	295391071,NP_000521
4359	127721	Disease	p.Arg98Pro	VAR_004520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004520	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	58	cd05886	295391071,NP_000521
4359	127721	Disease	p.Arg98Ser	VAR_004521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004521	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	121	smart00409	295391071,NP_000521
4359	127721	Disease	p.Arg98Ser	VAR_004521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004521	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	121	smart00410	295391071,NP_000521
4359	127721	Disease	p.Arg98Ser	VAR_004521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004521	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	68	cd05880	295391071,NP_000521
4359	127721	Disease	p.Arg98Ser	VAR_004521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004521	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	80	cd00096	295391071,NP_000521
4359	127721	Disease	p.Arg98Ser	VAR_004521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004521	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	82	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Arg98Ser	VAR_004521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004521	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	87	smart00406	295391071,NP_000521
4359	127721	Disease	p.Arg98Ser	VAR_004521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004521	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	71	cd05715	295391071,NP_000521
4359	127721	Disease	p.Arg98Ser	VAR_004521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004521	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	68	cd05879	295391071,NP_000521
4359	127721	Disease	p.Arg98Ser	VAR_004521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004521	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	56	cd05718	295391071,NP_000521
4359	127721	Disease	p.Arg98Ser	VAR_004521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004521	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	58	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ile99Thr	VAR_004522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004522	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	122	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ile99Thr	VAR_004522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004522	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	122	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ile99Thr	VAR_004522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004522	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	69	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ile99Thr	VAR_004522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004522	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	81	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ile99Thr	VAR_004522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004522	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	83	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ile99Thr	VAR_004522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004522	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	88	smart00406	295391071,NP_000521
4359	127721	Disease	p.Ile99Thr	VAR_004522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004522	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	72	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ile99Thr	VAR_004522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004522	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	69	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ile99Thr	VAR_004522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004522	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	57	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ile99Thr	VAR_004522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004522	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	59	cd05886	295391071,NP_000521
4359	127721	Disease	p.Trp101Cys	VAR_004523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004523	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	126	smart00409	295391071,NP_000521
4359	127721	Disease	p.Trp101Cys	VAR_004523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004523	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	126	smart00410	295391071,NP_000521
4359	127721	Disease	p.Trp101Cys	VAR_004523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004523	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	71	cd05880	295391071,NP_000521
4359	127721	Disease	p.Trp101Cys	VAR_004523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004523	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	83	cd00096	295391071,NP_000521
4359	127721	Disease	p.Trp101Cys	VAR_004523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004523	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	85	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Trp101Cys	VAR_004523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004523	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	90	smart00406	295391071,NP_000521
4359	127721	Disease	p.Trp101Cys	VAR_004523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004523	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	74	cd05715	295391071,NP_000521
4359	127721	Disease	p.Trp101Cys	VAR_004523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004523	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	71	cd05879	295391071,NP_000521
4359	127721	Disease	p.Trp101Cys	VAR_004523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004523	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	59	cd05718	295391071,NP_000521
4359	127721	Disease	p.Trp101Cys	VAR_004523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004523	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	61	cd05886	295391071,NP_000521
4359	127721	Disease	p.Gly103Glu	VAR_015976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015976	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	152	smart00409	295391071,NP_000521
4359	127721	Disease	p.Gly103Glu	VAR_015976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015976	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	152	smart00410	295391071,NP_000521
4359	127721	Disease	p.Gly103Glu	VAR_015976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015976	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	73	cd05880	295391071,NP_000521
4359	127721	Disease	p.Gly103Glu	VAR_015976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015976	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	85	cd00096	295391071,NP_000521
4359	127721	Disease	p.Gly103Glu	VAR_015976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015976	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	87	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Gly103Glu	VAR_015976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015976	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	92	smart00406	295391071,NP_000521
4359	127721	Disease	p.Gly103Glu	VAR_015976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015976	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	76	cd05715	295391071,NP_000521
4359	127721	Disease	p.Gly103Glu	VAR_015976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015976	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	73	cd05879	295391071,NP_000521
4359	127721	Disease	p.Gly103Glu	VAR_015976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015976	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	61	cd05718	295391071,NP_000521
4359	127721	Disease	p.Gly103Glu	VAR_015976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015976	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	63	cd05886	295391071,NP_000521
4359	127721	Disease	p.Asp109Asn	VAR_031889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031889	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	172	smart00409	295391071,NP_000521
4359	127721	Disease	p.Asp109Asn	VAR_031889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031889	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	172	smart00410	295391071,NP_000521
4359	127721	Disease	p.Asp109Asn	VAR_031889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031889	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	79	cd05880	295391071,NP_000521
4359	127721	Disease	p.Asp109Asn	VAR_031889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031889	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	91	cd00096	295391071,NP_000521
4359	127721	Disease	p.Asp109Asn	VAR_031889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031889	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	93	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Asp109Asn	VAR_031889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031889	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	110	smart00406	295391071,NP_000521
4359	127721	Disease	p.Asp109Asn	VAR_031889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031889	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	82	cd05715	295391071,NP_000521
4359	127721	Disease	p.Asp109Asn	VAR_031889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031889	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	79	cd05879	295391071,NP_000521
4359	127721	Disease	p.Asp109Asn	VAR_031889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031889	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	73	cd05718	295391071,NP_000521
4359	127721	Disease	p.Asp109Asn	VAR_031889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031889	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	69	cd05886	295391071,NP_000521
4359	127721	Disease	p.Gly110Asp	VAR_029976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029976	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	173	smart00409	295391071,NP_000521
4359	127721	Disease	p.Gly110Asp	VAR_029976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029976	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	173	smart00410	295391071,NP_000521
4359	127721	Disease	p.Gly110Asp	VAR_029976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029976	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	80	cd05880	295391071,NP_000521
4359	127721	Disease	p.Gly110Asp	VAR_029976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029976	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	92	cd00096	295391071,NP_000521
4359	127721	Disease	p.Gly110Asp	VAR_029976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029976	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	94	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Gly110Asp	VAR_029976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029976	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	111	smart00406	295391071,NP_000521
4359	127721	Disease	p.Gly110Asp	VAR_029976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029976	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	83	cd05715	295391071,NP_000521
4359	127721	Disease	p.Gly110Asp	VAR_029976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029976	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	80	cd05879	295391071,NP_000521
4359	127721	Disease	p.Gly110Asp	VAR_029976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029976	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	74	cd05718	295391071,NP_000521
4359	127721	Disease	p.Gly110Asp	VAR_029976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029976	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	70	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ile112Thr	VAR_004524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004524	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	175	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ile112Thr	VAR_004524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004524	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	175	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ile112Thr	VAR_004524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004524	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	82	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ile112Thr	VAR_004524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004524	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	94	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ile112Thr	VAR_004524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004524	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	96	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ile112Thr	VAR_004524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004524	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	113	smart00406	295391071,NP_000521
4359	127721	Disease	p.Ile112Thr	VAR_004524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004524	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	85	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ile112Thr	VAR_004524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004524	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	82	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ile112Thr	VAR_004524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004524	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	76	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ile112Thr	VAR_004524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004524	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	72	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ile114Thr	VAR_004525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004525	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	179	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ile114Thr	VAR_004525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004525	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	179	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ile114Thr	VAR_004525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004525	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	84	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ile114Thr	VAR_004525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004525	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	96	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ile114Thr	VAR_004525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004525	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	98	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ile114Thr	VAR_004525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004525	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	115	smart00406	295391071,NP_000521
4359	127721	Disease	p.Ile114Thr	VAR_004525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004525	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	87	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ile114Thr	VAR_004525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004525	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	84	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ile114Thr	VAR_004525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004525	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	78	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ile114Thr	VAR_004525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004525	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	74	cd05886	295391071,NP_000521
4359	127721	Disease	p.Asn116His	VAR_004526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004526	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	181	smart00409	295391071,NP_000521
4359	127721	Disease	p.Asn116His	VAR_004526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004526	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	181	smart00410	295391071,NP_000521
4359	127721	Disease	p.Asn116His	VAR_004526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004526	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	86	cd05880	295391071,NP_000521
4359	127721	Disease	p.Asn116His	VAR_004526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004526	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	98	cd00096	295391071,NP_000521
4359	127721	Disease	p.Asn116His	VAR_004526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004526	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	100	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Asn116His	VAR_004526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004526	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	117	smart00406	295391071,NP_000521
4359	127721	Disease	p.Asn116His	VAR_004526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004526	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	89	cd05715	295391071,NP_000521
4359	127721	Disease	p.Asn116His	VAR_004526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004526	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	86	cd05879	295391071,NP_000521
4359	127721	Disease	p.Asn116His	VAR_004526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004526	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	80	cd05718	295391071,NP_000521
4359	127721	Disease	p.Asn116His	VAR_004526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004526	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	76	cd05886	295391071,NP_000521
4359	127721	Disease	p.Asp118Asn	VAR_021609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021609	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	183	smart00409	295391071,NP_000521
4359	127721	Disease	p.Asp118Asn	VAR_021609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021609	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	183	smart00410	295391071,NP_000521
4359	127721	Disease	p.Asp118Asn	VAR_021609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021609	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	88	cd05880	295391071,NP_000521
4359	127721	Disease	p.Asp118Asn	VAR_021609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021609	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	100	cd00096	295391071,NP_000521
4359	127721	Disease	p.Asp118Asn	VAR_021609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021609	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	103	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Asp118Asn	VAR_021609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021609	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	119	smart00406	295391071,NP_000521
4359	127721	Disease	p.Asp118Asn	VAR_021609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021609	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	91	cd05715	295391071,NP_000521
4359	127721	Disease	p.Asp118Asn	VAR_021609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021609	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	88	cd05879	295391071,NP_000521
4359	127721	Disease	p.Asp118Asn	VAR_021609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021609	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	82	cd05718	295391071,NP_000521
4359	127721	Disease	p.Asp118Asn	VAR_021609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021609	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	78	cd05886	295391071,NP_000521
4359	127721	Disease	p.Asn122Ser	VAR_004528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004528	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	190	smart00409	295391071,NP_000521
4359	127721	Disease	p.Asn122Ser	VAR_004528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004528	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	190	smart00410	295391071,NP_000521
4359	127721	Disease	p.Asn122Ser	VAR_004528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004528	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	92	cd05880	295391071,NP_000521
4359	127721	Disease	p.Asn122Ser	VAR_004528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004528	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	120	cd00096	295391071,NP_000521
4359	127721	Disease	p.Asn122Ser	VAR_004528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004528	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	107	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Asn122Ser	VAR_004528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004528	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	123	smart00406	295391071,NP_000521
4359	127721	Disease	p.Asn122Ser	VAR_004528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004528	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	95	cd05715	295391071,NP_000521
4359	127721	Disease	p.Asn122Ser	VAR_004528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004528	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	92	cd05879	295391071,NP_000521
4359	127721	Disease	p.Asn122Ser	VAR_004528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004528	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	86	cd05718	295391071,NP_000521
4359	127721	Disease	p.Asn122Ser	VAR_004528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004528	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	82	cd05886	295391071,NP_000521
4359	127721	Disease	p.Gly123Cys	VAR_015977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015977	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	196	smart00409	295391071,NP_000521
4359	127721	Disease	p.Gly123Cys	VAR_015977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015977	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	196	smart00410	295391071,NP_000521
4359	127721	Disease	p.Gly123Cys	VAR_015977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015977	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	93	cd05880	295391071,NP_000521
4359	127721	Disease	p.Gly123Cys	VAR_015977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015977	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	121	cd00096	295391071,NP_000521
4359	127721	Disease	p.Gly123Cys	VAR_015977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015977	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	108	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Gly123Cys	VAR_015977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015977	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	124	smart00406	295391071,NP_000521
4359	127721	Disease	p.Gly123Cys	VAR_015977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015977	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	96	cd05715	295391071,NP_000521
4359	127721	Disease	p.Gly123Cys	VAR_015977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015977	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	93	cd05879	295391071,NP_000521
4359	127721	Disease	p.Gly123Cys	VAR_015977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015977	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	87	cd05718	295391071,NP_000521
4359	127721	Disease	p.Gly123Cys	VAR_015977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015977	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	83	cd05886	295391071,NP_000521
4359	127721	Disease	p.Gly123Cys	VAR_015977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015977	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	196	smart00409	295391071,NP_000521
4359	127721	Disease	p.Gly123Cys	VAR_015977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015977	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	196	smart00410	295391071,NP_000521
4359	127721	Disease	p.Gly123Cys	VAR_015977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015977	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	93	cd05880	295391071,NP_000521
4359	127721	Disease	p.Gly123Cys	VAR_015977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015977	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	121	cd00096	295391071,NP_000521
4359	127721	Disease	p.Gly123Cys	VAR_015977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015977	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	108	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Gly123Cys	VAR_015977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015977	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	124	smart00406	295391071,NP_000521
4359	127721	Disease	p.Gly123Cys	VAR_015977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015977	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	96	cd05715	295391071,NP_000521
4359	127721	Disease	p.Gly123Cys	VAR_015977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015977	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	93	cd05879	295391071,NP_000521
4359	127721	Disease	p.Gly123Cys	VAR_015977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015977	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	87	cd05718	295391071,NP_000521
4359	127721	Disease	p.Gly123Cys	VAR_015977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015977	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	83	cd05886	295391071,NP_000521
4359	127721	Disease	p.Thr124Lys	VAR_029978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029978	- Congenital hypomyelination neuropathy (CHN) [MIM:605253]	SWISS	197	smart00409	295391071,NP_000521
4359	127721	Disease	p.Thr124Lys	VAR_029978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029978	- Congenital hypomyelination neuropathy (CHN) [MIM:605253]	SWISS	197	smart00410	295391071,NP_000521
4359	127721	Disease	p.Thr124Lys	VAR_029978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029978	- Congenital hypomyelination neuropathy (CHN) [MIM:605253]	SWISS	94	cd05880	295391071,NP_000521
4359	127721	Disease	p.Thr124Lys	VAR_029978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029978	- Congenital hypomyelination neuropathy (CHN) [MIM:605253]	SWISS	122	cd00096	295391071,NP_000521
4359	127721	Disease	p.Thr124Lys	VAR_029978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029978	- Congenital hypomyelination neuropathy (CHN) [MIM:605253]	SWISS	109	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Thr124Lys	VAR_029978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029978	- Congenital hypomyelination neuropathy (CHN) [MIM:605253]	SWISS	125	smart00406	295391071,NP_000521
4359	127721	Disease	p.Thr124Lys	VAR_029978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029978	- Congenital hypomyelination neuropathy (CHN) [MIM:605253]	SWISS	97	cd05715	295391071,NP_000521
4359	127721	Disease	p.Thr124Lys	VAR_029978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029978	- Congenital hypomyelination neuropathy (CHN) [MIM:605253]	SWISS	94	cd05879	295391071,NP_000521
4359	127721	Disease	p.Thr124Lys	VAR_029978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029978	- Congenital hypomyelination neuropathy (CHN) [MIM:605253]	SWISS	88	cd05718	295391071,NP_000521
4359	127721	Disease	p.Thr124Lys	VAR_029978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029978	- Congenital hypomyelination neuropathy (CHN) [MIM:605253]	SWISS	84	cd05886	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	VAR_004529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004529	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	197	smart00409	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	VAR_004529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004529	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	197	smart00410	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	VAR_004529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004529	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	94	cd05880	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	VAR_004529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004529	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	122	cd00096	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	VAR_004529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004529	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	109	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	VAR_004529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004529	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	125	smart00406	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	VAR_004529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004529	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	97	cd05715	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	VAR_004529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004529	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	94	cd05879	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	VAR_004529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004529	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	88	cd05718	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	VAR_004529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004529	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	84	cd05886	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	VAR_004529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004529	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	197	smart00409	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	VAR_004529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004529	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	197	smart00410	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	VAR_004529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004529	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	94	cd05880	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	VAR_004529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004529	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	122	cd00096	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	VAR_004529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004529	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	109	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	VAR_004529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004529	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	125	smart00406	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	VAR_004529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004529	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	97	cd05715	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	VAR_004529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004529	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	94	cd05879	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	VAR_004529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004529	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	88	cd05718	295391071,NP_000521
4359	127721	Disease	p.Thr124Met	VAR_004529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004529	- Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]	SWISS	84	cd05886	295391071,NP_000521
4359	127721	Disease	p.Cys127Tyr	VAR_004531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004531	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	200	smart00409	295391071,NP_000521
4359	127721	Disease	p.Cys127Tyr	VAR_004531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004531	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	200	smart00410	295391071,NP_000521
4359	127721	Disease	p.Cys127Tyr	VAR_004531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004531	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	97	cd05880	295391071,NP_000521
4359	127721	Disease	p.Cys127Tyr	VAR_004531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004531	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	125	cd00096	295391071,NP_000521
4359	127721	Disease	p.Cys127Tyr	VAR_004531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004531	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	112	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Cys127Tyr	VAR_004531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004531	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	128	smart00406	295391071,NP_000521
4359	127721	Disease	p.Cys127Tyr	VAR_004531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004531	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	100	cd05715	295391071,NP_000521
4359	127721	Disease	p.Cys127Tyr	VAR_004531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004531	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	97	cd05879	295391071,NP_000521
4359	127721	Disease	p.Cys127Tyr	VAR_004531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004531	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	91	cd05718	295391071,NP_000521
4359	127721	Disease	p.Cys127Tyr	VAR_004531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004531	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	87	cd05886	295391071,NP_000521
4359	127721	Disease	p.Asp128Glu	VAR_004532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004532	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	201	smart00409	295391071,NP_000521
4359	127721	Disease	p.Asp128Glu	VAR_004532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004532	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	201	smart00410	295391071,NP_000521
4359	127721	Disease	p.Asp128Glu	VAR_004532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004532	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	98	cd05880	295391071,NP_000521
4359	127721	Disease	p.Asp128Glu	VAR_004532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004532	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	126	cd00096	295391071,NP_000521
4359	127721	Disease	p.Asp128Glu	VAR_004532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004532	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	113	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Asp128Glu	VAR_004532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004532	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	129	smart00406	295391071,NP_000521
4359	127721	Disease	p.Asp128Glu	VAR_004532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004532	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	101	cd05715	295391071,NP_000521
4359	127721	Disease	p.Asp128Glu	VAR_004532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004532	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	98	cd05879	295391071,NP_000521
4359	127721	Disease	p.Asp128Glu	VAR_004532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004532	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	92	cd05718	295391071,NP_000521
4359	127721	Disease	p.Asp128Glu	VAR_004532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004532	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	88	cd05886	295391071,NP_000521
4359	127721	Disease	p.Asp128Asn	VAR_004533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004533	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	201	smart00409	295391071,NP_000521
4359	127721	Disease	p.Asp128Asn	VAR_004533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004533	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	201	smart00410	295391071,NP_000521
4359	127721	Disease	p.Asp128Asn	VAR_004533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004533	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	98	cd05880	295391071,NP_000521
4359	127721	Disease	p.Asp128Asn	VAR_004533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004533	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	126	cd00096	295391071,NP_000521
4359	127721	Disease	p.Asp128Asn	VAR_004533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004533	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	113	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Asp128Asn	VAR_004533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004533	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	129	smart00406	295391071,NP_000521
4359	127721	Disease	p.Asp128Asn	VAR_004533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004533	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	101	cd05715	295391071,NP_000521
4359	127721	Disease	p.Asp128Asn	VAR_004533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004533	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	98	cd05879	295391071,NP_000521
4359	127721	Disease	p.Asp128Asn	VAR_004533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004533	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	92	cd05718	295391071,NP_000521
4359	127721	Disease	p.Asp128Asn	VAR_004533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004533	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	88	cd05886	295391071,NP_000521
4359	127721	Disease	p.Lys130Arg	VAR_004534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004534	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	206	smart00409	295391071,NP_000521
4359	127721	Disease	p.Lys130Arg	VAR_004534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004534	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	206	smart00410	295391071,NP_000521
4359	127721	Disease	p.Lys130Arg	VAR_004534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004534	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	100	cd05880	295391071,NP_000521
4359	127721	Disease	p.Lys130Arg	VAR_004534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004534	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	128	cd00096	295391071,NP_000521
4359	127721	Disease	p.Lys130Arg	VAR_004534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004534	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	115	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Lys130Arg	VAR_004534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004534	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	103	cd05715	295391071,NP_000521
4359	127721	Disease	p.Lys130Arg	VAR_004534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004534	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	100	cd05879	295391071,NP_000521
4359	127721	Disease	p.Lys130Arg	VAR_004534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004534	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	94	cd05718	295391071,NP_000521
4359	127721	Disease	p.Lys130Arg	VAR_004534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004534	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	90	cd05886	295391071,NP_000521
4359	127721	Disease	p.Lys130Arg	VAR_004534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004534	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	206	smart00409	295391071,NP_000521
4359	127721	Disease	p.Lys130Arg	VAR_004534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004534	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	206	smart00410	295391071,NP_000521
4359	127721	Disease	p.Lys130Arg	VAR_004534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004534	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	100	cd05880	295391071,NP_000521
4359	127721	Disease	p.Lys130Arg	VAR_004534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004534	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	128	cd00096	295391071,NP_000521
4359	127721	Disease	p.Lys130Arg	VAR_004534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004534	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	115	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Lys130Arg	VAR_004534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004534	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	103	cd05715	295391071,NP_000521
4359	127721	Disease	p.Lys130Arg	VAR_004534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004534	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	100	cd05879	295391071,NP_000521
4359	127721	Disease	p.Lys130Arg	VAR_004534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004534	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	94	cd05718	295391071,NP_000521
4359	127721	Disease	p.Lys130Arg	VAR_004534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004534	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	90	cd05886	295391071,NP_000521
4359	127721	Disease	p.Asn131Lys	VAR_015978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015978	- Roussy-Levy syndrome [MIM:180800]	SWISS	207	smart00409	295391071,NP_000521
4359	127721	Disease	p.Asn131Lys	VAR_015978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015978	- Roussy-Levy syndrome [MIM:180800]	SWISS	207	smart00410	295391071,NP_000521
4359	127721	Disease	p.Asn131Lys	VAR_015978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015978	- Roussy-Levy syndrome [MIM:180800]	SWISS	101	cd05880	295391071,NP_000521
4359	127721	Disease	p.Asn131Lys	VAR_015978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015978	- Roussy-Levy syndrome [MIM:180800]	SWISS	129	cd00096	295391071,NP_000521
4359	127721	Disease	p.Asn131Lys	VAR_015978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015978	- Roussy-Levy syndrome [MIM:180800]	SWISS	118	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Asn131Lys	VAR_015978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015978	- Roussy-Levy syndrome [MIM:180800]	SWISS	104	cd05715	295391071,NP_000521
4359	127721	Disease	p.Asn131Lys	VAR_015978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015978	- Roussy-Levy syndrome [MIM:180800]	SWISS	101	cd05879	295391071,NP_000521
4359	127721	Disease	p.Asn131Lys	VAR_015978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015978	- Roussy-Levy syndrome [MIM:180800]	SWISS	95	cd05718	295391071,NP_000521
4359	127721	Disease	p.Asn131Lys	VAR_015978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015978	- Roussy-Levy syndrome [MIM:180800]	SWISS	91	cd05886	295391071,NP_000521
4359	127721	Disease	p.Pro132Leu	VAR_004535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004535	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	208	smart00409	295391071,NP_000521
4359	127721	Disease	p.Pro132Leu	VAR_004535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004535	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	208	smart00410	295391071,NP_000521
4359	127721	Disease	p.Pro132Leu	VAR_004535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004535	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	102	cd05880	295391071,NP_000521
4359	127721	Disease	p.Pro132Leu	VAR_004535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004535	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	130	cd00096	295391071,NP_000521
4359	127721	Disease	p.Pro132Leu	VAR_004535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004535	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	119	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Pro132Leu	VAR_004535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004535	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	105	cd05715	295391071,NP_000521
4359	127721	Disease	p.Pro132Leu	VAR_004535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004535	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	102	cd05879	295391071,NP_000521
4359	127721	Disease	p.Pro132Leu	VAR_004535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004535	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	96	cd05718	295391071,NP_000521
4359	127721	Disease	p.Pro132Leu	VAR_004535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004535	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	92	cd05886	295391071,NP_000521
4359	127721	Disease	p.Asp134Glu	VAR_004536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004536	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	224	smart00409	295391071,NP_000521
4359	127721	Disease	p.Asp134Glu	VAR_004536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004536	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	224	smart00410	295391071,NP_000521
4359	127721	Disease	p.Asp134Glu	VAR_004536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004536	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	104	cd05880	295391071,NP_000521
4359	127721	Disease	p.Asp134Glu	VAR_004536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004536	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	132	cd00096	295391071,NP_000521
4359	127721	Disease	p.Asp134Glu	VAR_004536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004536	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	133	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Asp134Glu	VAR_004536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004536	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	107	cd05715	295391071,NP_000521
4359	127721	Disease	p.Asp134Glu	VAR_004536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004536	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	104	cd05879	295391071,NP_000521
4359	127721	Disease	p.Asp134Glu	VAR_004536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004536	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	98	cd05718	295391071,NP_000521
4359	127721	Disease	p.Asp134Glu	VAR_004536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004536	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	93_G	cd05886	295391071,NP_000521
4359	127721	Disease	p.Asp134Gly	VAR_029979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029979	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	224	smart00409	295391071,NP_000521
4359	127721	Disease	p.Asp134Gly	VAR_029979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029979	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	224	smart00410	295391071,NP_000521
4359	127721	Disease	p.Asp134Gly	VAR_029979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029979	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	104	cd05880	295391071,NP_000521
4359	127721	Disease	p.Asp134Gly	VAR_029979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029979	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	132	cd00096	295391071,NP_000521
4359	127721	Disease	p.Asp134Gly	VAR_029979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029979	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	133	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Asp134Gly	VAR_029979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029979	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	107	cd05715	295391071,NP_000521
4359	127721	Disease	p.Asp134Gly	VAR_029979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029979	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	104	cd05879	295391071,NP_000521
4359	127721	Disease	p.Asp134Gly	VAR_029979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029979	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	98	cd05718	295391071,NP_000521
4359	127721	Disease	p.Asp134Gly	VAR_029979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029979	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	93_G	cd05886	295391071,NP_000521
4359	127721	Disease	p.Asp134Asn	VAR_004537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004537	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	224	smart00409	295391071,NP_000521
4359	127721	Disease	p.Asp134Asn	VAR_004537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004537	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	224	smart00410	295391071,NP_000521
4359	127721	Disease	p.Asp134Asn	VAR_004537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004537	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	104	cd05880	295391071,NP_000521
4359	127721	Disease	p.Asp134Asn	VAR_004537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004537	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	132	cd00096	295391071,NP_000521
4359	127721	Disease	p.Asp134Asn	VAR_004537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004537	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	133	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Asp134Asn	VAR_004537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004537	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	107	cd05715	295391071,NP_000521
4359	127721	Disease	p.Asp134Asn	VAR_004537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004537	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	104	cd05879	295391071,NP_000521
4359	127721	Disease	p.Asp134Asn	VAR_004537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004537	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	98	cd05718	295391071,NP_000521
4359	127721	Disease	p.Asp134Asn	VAR_004537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004537	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	93_G	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ile135Leu	VAR_004538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004538	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	226	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ile135Leu	VAR_004538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004538	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	226	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ile135Leu	VAR_004538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004538	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	105	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ile135Leu	VAR_004538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004538	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	163	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ile135Leu	VAR_004538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004538	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	134	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ile135Leu	VAR_004538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004538	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	108	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ile135Leu	VAR_004538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004538	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	105	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ile135Leu	VAR_004538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004538	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	99	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ile135Leu	VAR_004538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004538	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	94	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ile135Leu	VAR_004538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004538	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	226	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ile135Leu	VAR_004538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004538	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	226	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ile135Leu	VAR_004538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004538	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	105	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ile135Leu	VAR_004538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004538	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	163	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ile135Leu	VAR_004538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004538	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	134	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ile135Leu	VAR_004538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004538	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	108	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ile135Leu	VAR_004538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004538	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	105	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ile135Leu	VAR_004538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004538	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	99	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ile135Leu	VAR_004538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004538	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	94	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ile135Thr	VAR_004539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004539	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	226	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ile135Thr	VAR_004539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004539	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	226	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ile135Thr	VAR_004539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004539	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	105	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ile135Thr	VAR_004539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004539	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	163	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ile135Thr	VAR_004539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004539	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	134	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ile135Thr	VAR_004539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004539	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	108	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ile135Thr	VAR_004539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004539	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	105	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ile135Thr	VAR_004539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004539	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	99	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ile135Thr	VAR_004539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004539	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	94	cd05886	295391071,NP_000521
4359	127721	Disease	p.Val136Glu	VAR_015979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015979	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	227	smart00409	295391071,NP_000521
4359	127721	Disease	p.Val136Glu	VAR_015979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015979	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	227	smart00410	295391071,NP_000521
4359	127721	Disease	p.Val136Glu	VAR_015979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015979	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	106	cd05880	295391071,NP_000521
4359	127721	Disease	p.Val136Glu	VAR_015979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015979	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	164	cd00096	295391071,NP_000521
4359	127721	Disease	p.Val136Glu	VAR_015979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015979	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	135	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Val136Glu	VAR_015979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015979	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	109	cd05715	295391071,NP_000521
4359	127721	Disease	p.Val136Glu	VAR_015979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015979	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	106	cd05879	295391071,NP_000521
4359	127721	Disease	p.Val136Glu	VAR_015979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015979	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	100	cd05718	295391071,NP_000521
4359	127721	Disease	p.Val136Glu	VAR_015979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015979	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	95	cd05886	295391071,NP_000521
4359	127721	Disease	p.Gly137Ser	VAR_004540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004540	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	230	smart00409	295391071,NP_000521
4359	127721	Disease	p.Gly137Ser	VAR_004540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004540	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	230	smart00410	295391071,NP_000521
4359	127721	Disease	p.Gly137Ser	VAR_004540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004540	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	107	cd05880	295391071,NP_000521
4359	127721	Disease	p.Gly137Ser	VAR_004540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004540	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	165	cd00096	295391071,NP_000521
4359	127721	Disease	p.Gly137Ser	VAR_004540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004540	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	136	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Gly137Ser	VAR_004540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004540	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	110	cd05715	295391071,NP_000521
4359	127721	Disease	p.Gly137Ser	VAR_004540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004540	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	107	cd05879	295391071,NP_000521
4359	127721	Disease	p.Gly137Ser	VAR_004540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004540	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	100_G	cd05718	295391071,NP_000521
4359	127721	Disease	p.Gly137Ser	VAR_004540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004540	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	96	cd05886	295391071,NP_000521
4359	127721	Disease	p.Lys138Asn	VAR_029980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029980	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	231	smart00409	295391071,NP_000521
4359	127721	Disease	p.Lys138Asn	VAR_029980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029980	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	231	smart00410	295391071,NP_000521
4359	127721	Disease	p.Lys138Asn	VAR_029980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029980	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	108	cd05880	295391071,NP_000521
4359	127721	Disease	p.Lys138Asn	VAR_029980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029980	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	166	cd00096	295391071,NP_000521
4359	127721	Disease	p.Lys138Asn	VAR_029980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029980	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	137	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Lys138Asn	VAR_029980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029980	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	111	cd05715	295391071,NP_000521
4359	127721	Disease	p.Lys138Asn	VAR_029980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029980	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	108	cd05879	295391071,NP_000521
4359	127721	Disease	p.Lys138Asn	VAR_029980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029980	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	101	cd05718	295391071,NP_000521
4359	127721	Disease	p.Lys138Asn	VAR_029980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029980	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	97	cd05886	295391071,NP_000521
4359	127721	Disease	p.Thr139Asn	VAR_029981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029981	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	233	smart00409	295391071,NP_000521
4359	127721	Disease	p.Thr139Asn	VAR_029981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029981	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	233	smart00410	295391071,NP_000521
4359	127721	Disease	p.Thr139Asn	VAR_029981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029981	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	109	cd05880	295391071,NP_000521
4359	127721	Disease	p.Thr139Asn	VAR_029981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029981	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	167	cd00096	295391071,NP_000521
4359	127721	Disease	p.Thr139Asn	VAR_029981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029981	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	138	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Thr139Asn	VAR_029981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029981	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	112	cd05715	295391071,NP_000521
4359	127721	Disease	p.Thr139Asn	VAR_029981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029981	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	109	cd05879	295391071,NP_000521
4359	127721	Disease	p.Thr139Asn	VAR_029981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029981	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	102	cd05718	295391071,NP_000521
4359	127721	Disease	p.Thr139Asn	VAR_029981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029981	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	98	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ser140Thr	VAR_029982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029982	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	237	smart00409	295391071,NP_000521
4359	127721	Disease	p.Ser140Thr	VAR_029982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029982	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	237	smart00410	295391071,NP_000521
4359	127721	Disease	p.Ser140Thr	VAR_029982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029982	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	110	cd05880	295391071,NP_000521
4359	127721	Disease	p.Ser140Thr	VAR_029982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029982	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	168	cd00096	295391071,NP_000521
4359	127721	Disease	p.Ser140Thr	VAR_029982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029982	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	139	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Ser140Thr	VAR_029982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029982	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	113	cd05715	295391071,NP_000521
4359	127721	Disease	p.Ser140Thr	VAR_029982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029982	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	110	cd05879	295391071,NP_000521
4359	127721	Disease	p.Ser140Thr	VAR_029982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029982	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	103	cd05718	295391071,NP_000521
4359	127721	Disease	p.Ser140Thr	VAR_029982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029982	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	99	cd05886	295391071,NP_000521
4359	127721	Disease	p.Thr143Met	VAR_004541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004541	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	247	smart00409	295391071,NP_000521
4359	127721	Disease	p.Thr143Met	VAR_004541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004541	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	247	smart00410	295391071,NP_000521
4359	127721	Disease	p.Thr143Met	VAR_004541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004541	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	113	cd05880	295391071,NP_000521
4359	127721	Disease	p.Thr143Met	VAR_004541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004541	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	171	cd00096	295391071,NP_000521
4359	127721	Disease	p.Thr143Met	VAR_004541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004541	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	142	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Thr143Met	VAR_004541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004541	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	116	cd05715	295391071,NP_000521
4359	127721	Disease	p.Thr143Met	VAR_004541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004541	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	113	cd05879	295391071,NP_000521
4359	127721	Disease	p.Thr143Met	VAR_004541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004541	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	106	cd05718	295391071,NP_000521
4359	127721	Disease	p.Thr143Met	VAR_004541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004541	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	102	cd05886	295391071,NP_000521
4359	127721	Disease	p.Tyr145Ser	VAR_029983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029983	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	249	smart00409	295391071,NP_000521
4359	127721	Disease	p.Tyr145Ser	VAR_029983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029983	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	249	smart00410	295391071,NP_000521
4359	127721	Disease	p.Tyr145Ser	VAR_029983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029983	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	115	cd05880	295391071,NP_000521
4359	127721	Disease	p.Tyr145Ser	VAR_029983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029983	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	144	pfam07686	295391071,NP_000521
4359	127721	Disease	p.Tyr145Ser	VAR_029983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029983	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	118	cd05715	295391071,NP_000521
4359	127721	Disease	p.Tyr145Ser	VAR_029983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029983	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	115	cd05879	295391071,NP_000521
4359	127721	Disease	p.Tyr145Ser	VAR_029983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029983	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	108	cd05718	295391071,NP_000521
4359	127721	Disease	p.Tyr145Ser	VAR_029983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029983	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	104	cd05886	295391071,NP_000521
4359	127721	Disease	p.Val146Phe	VAR_029984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029984	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	250	smart00409	295391071,NP_000521
4359	127721	Disease	p.Val146Phe	VAR_029984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029984	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	250	smart00410	295391071,NP_000521
4359	127721	Disease	p.Val146Phe	VAR_029984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029984	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	109	cd05718	295391071,NP_000521
4359	127721	Disease	p.Val146Phe	VAR_029984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029984	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	105	cd05886	295391071,NP_000521
4359	127721	Disease	p.Ile162Met	VAR_015980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015980	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	No Domain	N/A	295391071,NP_000521
4359	127721	Disease	p.Gly163Arg	VAR_004542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004542	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	No Domain	N/A	295391071,NP_000521
4359	127721	Disease	p.Gly167Ala	VAR_004543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004543	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	No Domain	N/A	295391071,NP_000521
4359	127721	Disease	p.Gly167Ala	VAR_004543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004543	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	No Domain	N/A	295391071,NP_000521
4359	127721	Disease	p.Gly167Arg	VAR_004544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004544	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	No Domain	N/A	295391071,NP_000521
4359	127721	Disease	p.Leu170Arg	VAR_029985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029985	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	No Domain	N/A	295391071,NP_000521
4359	127721	Disease	p.Ala221Thr	VAR_031892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031892	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	44	pfam10570	295391071,NP_000521
4359	127721	Disease	p.Asp224Tyr	VAR_054397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054397	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	47	pfam10570	295391071,NP_000521
4359	127721	Disease	p.Arg227Ser	VAR_054398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054398	- Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]	SWISS	50	pfam10570	295391071,NP_000521
4359	127721	Disease	p.Lys236Glu	VAR_021610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021610	- Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]	SWISS	59	pfam10570	295391071,NP_000521
4361	17380137	Disease	p.Asn117Ser	VAR_008513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008513	- Ataxia telangiectasia-like disorder (ATLD) [MIM:604391]	SWISS	115	COG0420	5031923,NP_005582
4361	17380137	Disease	p.Asn117Ser	VAR_008513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008513	- Ataxia telangiectasia-like disorder (ATLD) [MIM:604391]	SWISS	172	pfam00149	5031923,NP_005582
4361	17380137	Disease	p.Asn117Ser	VAR_008513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008513	- Ataxia telangiectasia-like disorder (ATLD) [MIM:604391]	SWISS	145	cd00840	5031923,NP_005582
56945	13633893	Disease	p.Arg170His	VAR_042733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042733	- Combined oxidative phosphorylation deficiency type 5 (COXPD5) [MIM:611719]	SWISS	109	pfam10245	9910244,NP_064576
4487	23503066	Disease	p.Met61Lys	VAR_015712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015712	- Tooth agenesis selective type 1 (STHAG1) [MIM:106600]	SWISS	No Domain	N/A	NULL
4487	23503066	Disease	p.Glu78Val	VAR_018391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018391	- Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874]	SWISS	No Domain	N/A	NULL
4487	23503066	Disease	p.Gly91Asp	VAR_018392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018392	- Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874]	SWISS	No Domain	N/A	NULL
4487	23503066	Disease	p.Val114Gly	VAR_018393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018393	- Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874]	SWISS	No Domain	N/A	NULL
4487	23503066	Disease	p.Gly116Glu	VAR_018394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018394	rs28933081 Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874]	SWISS	No Domain	N/A	NULL
4487	23503066	Disease	p.Arg151Ser	VAR_018395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018395	- Non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874]	SWISS	No Domain	N/A	NULL
4487	23503066	Disease	p.Arg196Pro	VAR_003754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003754	- Tooth agenesis selective type 1 (STHAG1) [MIM:106600]	SWISS	41	cd00086	NULL
4487	23503066	Disease	p.Arg196Pro	VAR_003754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003754	- Tooth agenesis selective type 1 (STHAG1) [MIM:106600]	SWISS	49	smart00389	NULL
4487	23503066	Disease	p.Arg196Pro	VAR_003754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003754	- Tooth agenesis selective type 1 (STHAG1) [MIM:106600]	SWISS	35	pfam00046	NULL
4488	311033429	Disease	p.Pro148His	VAR_003755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003755	- Craniosynostosis type 2 (CRS2) [MIM:604757]	SWISS	57	COG5576	27886557,NP_002440
4488	311033429	Disease	p.Pro148His	VAR_003755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003755	- Craniosynostosis type 2 (CRS2) [MIM:604757]	SWISS	6	cd00086	27886557,NP_002440
4488	311033429	Disease	p.Pro148His	VAR_003755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003755	- Craniosynostosis type 2 (CRS2) [MIM:604757]	SWISS	6	smart00389	27886557,NP_002440
4488	311033429	Disease	p.Pro148His	VAR_003755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003755	- Craniosynostosis type 2 (CRS2) [MIM:604757]	SWISS	6	pfam00046	27886557,NP_002440
4488	311033429	Disease	p.Leu154Pro	VAR_010786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010786	- Parietal foramina 1 (PFM1) [MIM:168500]	SWISS	63	COG5576	27886557,NP_002440
4488	311033429	Disease	p.Leu154Pro	VAR_010786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010786	- Parietal foramina 1 (PFM1) [MIM:168500]	SWISS	12	cd00086	27886557,NP_002440
4488	311033429	Disease	p.Leu154Pro	VAR_010786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010786	- Parietal foramina 1 (PFM1) [MIM:168500]	SWISS	17	smart00389	27886557,NP_002440
4488	311033429	Disease	p.Leu154Pro	VAR_010786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010786	- Parietal foramina 1 (PFM1) [MIM:168500]	SWISS	12	pfam00046	27886557,NP_002440
4488	311033429	Disease	p.Arg172His	VAR_010201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010201	- Parietal foramina 1 (PFM1) [MIM:168500]	SWISS	81	COG5576	27886557,NP_002440
4488	311033429	Disease	p.Arg172His	VAR_010201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010201	- Parietal foramina 1 (PFM1) [MIM:168500]	SWISS	41	cd00086	27886557,NP_002440
4488	311033429	Disease	p.Arg172His	VAR_010201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010201	- Parietal foramina 1 (PFM1) [MIM:168500]	SWISS	49	smart00389	27886557,NP_002440
4488	311033429	Disease	p.Arg172His	VAR_010201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010201	- Parietal foramina 1 (PFM1) [MIM:168500]	SWISS	35	pfam00046	27886557,NP_002440
4508	114443	Disease	p.Leu156Pro	VAR_000794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000794	- Leigh syndrome (LS) [MIM:256000]	SWISS	229	COG0356	251831112,YP_003024031
4508	114443	Disease	p.Leu156Pro	VAR_000794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000794	- Leigh syndrome (LS) [MIM:256000]	SWISS	176	pfam00119	251831112,YP_003024031
4508	114443	Disease	p.Leu156Arg	VAR_000793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000793	- Leigh syndrome (LS) [MIM:256000]	SWISS	229	COG0356	251831112,YP_003024031
4508	114443	Disease	p.Leu156Arg	VAR_000793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000793	- Leigh syndrome (LS) [MIM:256000]	SWISS	176	pfam00119	251831112,YP_003024031
4508	114443	Disease	p.Leu156Arg	VAR_000793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000793	- Neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) [MIM:551500]	SWISS	229	COG0356	251831112,YP_003024031
4508	114443	Disease	p.Leu156Arg	VAR_000793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000793	- Neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) [MIM:551500]	SWISS	176	pfam00119	251831112,YP_003024031
4508	114443	Disease	p.Ile192Thr	VAR_000795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000795	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	271	COG0356	251831112,YP_003024031
4508	114443	Disease	p.Ile192Thr	VAR_000795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000795	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	219	pfam00119	251831112,YP_003024031
4508	114443	Disease	p.Leu217Pro	VAR_000797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000797	- Leigh syndrome (LS) [MIM:256000]	SWISS	298	COG0356	251831112,YP_003024031
4508	114443	Disease	p.Leu217Pro	VAR_000797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000797	- Leigh syndrome (LS) [MIM:256000]	SWISS	253	pfam00119	251831112,YP_003024031
4508	114443	Disease	p.Leu217Pro	VAR_000797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000797	- Mitochondrial infantile bilateral striatal necrosis (MIBSN) [MIM:500003]	SWISS	298	COG0356	251831112,YP_003024031
4508	114443	Disease	p.Leu217Pro	VAR_000797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000797	- Mitochondrial infantile bilateral striatal necrosis (MIBSN) [MIM:500003]	SWISS	253	pfam00119	251831112,YP_003024031
4512	116977	Disease	p.Ser142Phe	VAR_033055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033055	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	147	cd01662	251831109,YP_003024028
4512	116977	Disease	p.Ser142Phe	VAR_033055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033055	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	181	COG0843	251831109,YP_003024028
4512	116977	Disease	p.Ser142Phe	VAR_033055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033055	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	149	cd01660	251831109,YP_003024028
4512	116977	Disease	p.Ser142Phe	VAR_033055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033055	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	166	cd01663	251831109,YP_003024028
4512	116977	Disease	p.Ser142Phe	VAR_033055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033055	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	287	cd00919	251831109,YP_003024028
4512	116977	Disease	p.Ser142Phe	VAR_033055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033055	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	187	pfam00115	251831109,YP_003024028
4512	116977	Disease	p.Leu196Ile	VAR_033056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033056	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	201	cd01662	251831109,YP_003024028
4512	116977	Disease	p.Leu196Ile	VAR_033056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033056	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	236	COG0843	251831109,YP_003024028
4512	116977	Disease	p.Leu196Ile	VAR_033056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033056	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	199	cd01660	251831109,YP_003024028
4512	116977	Disease	p.Leu196Ile	VAR_033056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033056	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	221	cd01663	251831109,YP_003024028
4512	116977	Disease	p.Leu196Ile	VAR_033056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033056	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	355	cd00919	251831109,YP_003024028
4512	116977	Disease	p.Leu196Ile	VAR_033056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033056	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	245	pfam00115	251831109,YP_003024028
4512	116977	Disease	p.Met273Thr	VAR_008385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008385	- Anemia sideroblastic acquired idiopathic (AISA) [MIM:516030]	SWISS	278	cd01662	251831109,YP_003024028
4512	116977	Disease	p.Met273Thr	VAR_008385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008385	- Anemia sideroblastic acquired idiopathic (AISA) [MIM:516030]	SWISS	324	COG0843	251831109,YP_003024028
4512	116977	Disease	p.Met273Thr	VAR_008385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008385	- Anemia sideroblastic acquired idiopathic (AISA) [MIM:516030]	SWISS	264	cd01660	251831109,YP_003024028
4512	116977	Disease	p.Met273Thr	VAR_008385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008385	- Anemia sideroblastic acquired idiopathic (AISA) [MIM:516030]	SWISS	298	cd01663	251831109,YP_003024028
4512	116977	Disease	p.Met273Thr	VAR_008385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008385	- Anemia sideroblastic acquired idiopathic (AISA) [MIM:516030]	SWISS	450	cd00919	251831109,YP_003024028
4512	116977	Disease	p.Met273Thr	VAR_008385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008385	- Anemia sideroblastic acquired idiopathic (AISA) [MIM:516030]	SWISS	331	pfam00115	251831109,YP_003024028
4512	116977	Disease	p.Ile280Thr	VAR_008386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008386	- Anemia sideroblastic acquired idiopathic (AISA) [MIM:516030]	SWISS	285	cd01662	251831109,YP_003024028
4512	116977	Disease	p.Ile280Thr	VAR_008386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008386	- Anemia sideroblastic acquired idiopathic (AISA) [MIM:516030]	SWISS	331	COG0843	251831109,YP_003024028
4512	116977	Disease	p.Ile280Thr	VAR_008386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008386	- Anemia sideroblastic acquired idiopathic (AISA) [MIM:516030]	SWISS	273	cd01660	251831109,YP_003024028
4512	116977	Disease	p.Ile280Thr	VAR_008386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008386	- Anemia sideroblastic acquired idiopathic (AISA) [MIM:516030]	SWISS	305	cd01663	251831109,YP_003024028
4512	116977	Disease	p.Ile280Thr	VAR_008386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008386	- Anemia sideroblastic acquired idiopathic (AISA) [MIM:516030]	SWISS	457	cd00919	251831109,YP_003024028
4512	116977	Disease	p.Ile280Thr	VAR_008386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008386	- Anemia sideroblastic acquired idiopathic (AISA) [MIM:516030]	SWISS	339	pfam00115	251831109,YP_003024028
4513	117020	Disease	p.Met29Lys	VAR_035085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035085	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	32	pfam02790	251831110,YP_003024029
4513	117020	Disease	p.Met29Lys	VAR_035085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035085	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	48	COG1622	251831110,YP_003024029
4514	6648058	Disease	p.Gly78Ser	VAR_002167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002167	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	75	pfam00510	251831113,YP_003024032
4514	6648058	Disease	p.Gly78Ser	VAR_002167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002167	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	34	COG1845	251831113,YP_003024032
4514	6648058	Disease	p.Gly78Ser	VAR_002167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002167	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	75	cd01665	251831113,YP_003024032
4514	6648058	Disease	p.Gly78Ser	VAR_002167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002167	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	8	cd02865	251831113,YP_003024032
4514	6648058	Disease	p.Gly78Ser	VAR_002167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002167	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	8	cd02864	251831113,YP_003024032
4514	6648058	Disease	p.Gly78Ser	VAR_002167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002167	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	8	cd02862	251831113,YP_003024032
4514	6648058	Disease	p.Gly78Ser	VAR_002167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002167	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	8	cd00386	251831113,YP_003024032
4514	6648058	Disease	p.Gly78Ser	VAR_002167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002167	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	9	cd02863	251831113,YP_003024032
4514	6648058	Disease	p.Ala200Thr	VAR_002168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002168	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	200	pfam00510	251831113,YP_003024032
4514	6648058	Disease	p.Ala200Thr	VAR_002168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002168	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	192	COG1845	251831113,YP_003024032
4514	6648058	Disease	p.Ala200Thr	VAR_002168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002168	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	348	cd01665	251831113,YP_003024032
4514	6648058	Disease	p.Ala200Thr	VAR_002168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002168	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	131	cd02865	251831113,YP_003024032
4514	6648058	Disease	p.Ala200Thr	VAR_002168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002168	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	173	cd02864	251831113,YP_003024032
4514	6648058	Disease	p.Ala200Thr	VAR_002168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002168	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	148	cd02862	251831113,YP_003024032
4514	6648058	Disease	p.Ala200Thr	VAR_002168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002168	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	301	cd00386	251831113,YP_003024032
4514	6648058	Disease	p.Ala200Thr	VAR_002168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002168	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	148	cd02863	251831113,YP_003024032
NULL	117863	Disease	p.Asp171Asn	VAR_002197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002197	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	248	COG1290	NULL
NULL	117863	Disease	p.Asp171Asn	VAR_002197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002197	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	406	pfam00033	NULL
NULL	117863	Disease	p.Asp171Asn	VAR_002197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002197	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	165	cd00284	NULL
NULL	117863	Disease	p.Gly251Asp	VAR_013656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013656	- Cardiomyopathy infantile histiocytoid (CMIH) [MIM:500000]	SWISS	364	COG1290	NULL
NULL	117863	Disease	p.Gly251Asp	VAR_013656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013656	- Cardiomyopathy infantile histiocytoid (CMIH) [MIM:500000]	SWISS	45	cd00290	NULL
NULL	117863	Disease	p.Val356Met	VAR_002199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002199	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	568	COG1290	NULL
NULL	117863	Disease	p.Val356Met	VAR_002199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002199	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	145	pfam00032	NULL
4535	128641	Disease	p.Ala4Thr	VAR_004747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004747	- Non-insulin-dependent diabetes mellitus (NIDDM)	SWISS	4	pfam00146	251831107,YP_003024026
4535	128641	Disease	p.Ala4Thr	VAR_004747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004747	- Non-insulin-dependent diabetes mellitus (NIDDM)	SWISS	4	COG0650	251831107,YP_003024026
4535	128641	Disease	p.Ala4Thr	VAR_004747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004747	- Non-insulin-dependent diabetes mellitus (NIDDM)	SWISS	2	COG1005	251831107,YP_003024026
4535	128641	Disease	p.Tyr30His	VAR_004748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004748	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	30	pfam00146	251831107,YP_003024026
4535	128641	Disease	p.Tyr30His	VAR_004748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004748	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	35	COG0650	251831107,YP_003024026
4535	128641	Disease	p.Tyr30His	VAR_004748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004748	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	71	COG1005	251831107,YP_003024026
4535	128641	Disease	p.Met31Thr	VAR_004749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004749	- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]	SWISS	31	pfam00146	251831107,YP_003024026
4535	128641	Disease	p.Met31Thr	VAR_004749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004749	- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]	SWISS	36	COG0650	251831107,YP_003024026
4535	128641	Disease	p.Met31Thr	VAR_004749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004749	- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]	SWISS	72	COG1005	251831107,YP_003024026
4535	128641	Disease	p.Met31Val	VAR_004750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004750	- Alzheimer disease mitochondrial (AD-MT) [MIM:502500]	SWISS	31	pfam00146	251831107,YP_003024026
4535	128641	Disease	p.Met31Val	VAR_004750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004750	- Alzheimer disease mitochondrial (AD-MT) [MIM:502500]	SWISS	36	COG0650	251831107,YP_003024026
4535	128641	Disease	p.Met31Val	VAR_004750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004750	- Alzheimer disease mitochondrial (AD-MT) [MIM:502500]	SWISS	72	COG1005	251831107,YP_003024026
4535	128641	Disease	p.Ala52Thr	VAR_004751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004751	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	52	pfam00146	251831107,YP_003024026
4535	128641	Disease	p.Ala52Thr	VAR_004751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004751	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	52	COG0650	251831107,YP_003024026
4535	128641	Disease	p.Ala52Thr	VAR_004751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004751	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	95	COG1005	251831107,YP_003024026
4535	128641	Disease	p.Leu285Pro	VAR_004753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004753	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	317	pfam00146	251831107,YP_003024026
4535	128641	Disease	p.Leu285Pro	VAR_004753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004753	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	326	COG0650	251831107,YP_003024026
4535	128641	Disease	p.Leu285Pro	VAR_004753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004753	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	390	COG1005	251831107,YP_003024026
4535	128641	Disease	p.Tyr304His	VAR_004754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004754	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	336	pfam00146	251831107,YP_003024026
4535	128641	Disease	p.Tyr304His	VAR_004754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004754	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	345	COG0650	251831107,YP_003024026
4535	128641	Disease	p.Tyr304His	VAR_004754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004754	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	409	COG1005	251831107,YP_003024026
4536	128676	Disease	p.Asn150Asp	VAR_004755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004755	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	165	pfam00361	251831108,YP_003024027
4536	128676	Disease	p.Asn150Asp	VAR_004755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004755	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	283	COG1007	251831108,YP_003024027
4536	128676	Disease	p.Gly259Ser	VAR_004756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004756	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	310	pfam00361	251831108,YP_003024027
4536	128676	Disease	p.Gly259Ser	VAR_004756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004756	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	432	COG1007	251831108,YP_003024027
4536	128676	Disease	p.Ala331Ser	VAR_004758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004758	- Alzheimer disease mitochondrial (AD-MT) [MIM:502500]	SWISS	513	COG1007	251831108,YP_003024027
4536	128676	Disease	p.Ala331Ser	VAR_004758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004758	- Alzheimer disease mitochondrial (AD-MT) [MIM:502500]	SWISS	50	pfam06444	251831108,YP_003024027
4537	128710	Disease	p.Ser45Pro	VAR_035091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035091	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	78	COG0838	251831114,YP_003024033
4537	128710	Disease	p.Ser45Pro	VAR_035091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035091	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	66	pfam00507	251831114,YP_003024033
4537	128710	Disease	p.Ala47Thr	VAR_035092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035092	- Leigh syndrome (LS) [MIM:256000]	SWISS	80	COG0838	251831114,YP_003024033
4537	128710	Disease	p.Ala47Thr	VAR_035092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035092	- Leigh syndrome (LS) [MIM:256000]	SWISS	68	pfam00507	251831114,YP_003024033
4538	128748	Disease	p.Thr109Ala	VAR_004759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004759	- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]	SWISS	136	COG1007	251831116,YP_003024035
4538	128748	Disease	p.Thr109Ala	VAR_004759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004759	- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]	SWISS	156	COG0651	251831116,YP_003024035
4538	128748	Disease	p.Thr109Ala	VAR_004759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004759	- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]	SWISS	176	COG1008	251831116,YP_003024035
4538	128748	Disease	p.Val313Ile	VAR_008393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008393	- Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]	SWISS	231	pfam00361	251831116,YP_003024035
4538	128748	Disease	p.Val313Ile	VAR_008393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008393	- Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]	SWISS	362	COG1007	251831116,YP_003024035
4538	128748	Disease	p.Val313Ile	VAR_008393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008393	- Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]	SWISS	407	COG0651	251831116,YP_003024035
4538	128748	Disease	p.Val313Ile	VAR_008393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008393	- Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]	SWISS	416	COG1008	251831116,YP_003024035
4538	128748	Disease	p.Arg340His	VAR_004760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004760	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	269	pfam00361	251831116,YP_003024035
4538	128748	Disease	p.Arg340His	VAR_004760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004760	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	398	COG1007	251831116,YP_003024035
4538	128748	Disease	p.Arg340His	VAR_004760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004760	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	440	COG0651	251831116,YP_003024035
4538	128748	Disease	p.Arg340His	VAR_004760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004760	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	443	COG1008	251831116,YP_003024035
4539	128888	Disease	p.Val65Ala	VAR_008397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008397	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	106	pfam00420	251831115,YP_003024034
4539	128888	Disease	p.Val65Ala	VAR_008397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008397	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	72	COG0713	251831115,YP_003024034
4540	6648059	Disease	p.Phe124Leu	VAR_035424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035424	- Leigh syndrome (LS) [MIM:256000]	SWISS	168	COG1008	251831117,YP_003024036
4540	6648059	Disease	p.Phe124Leu	VAR_035424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035424	- Leigh syndrome (LS) [MIM:256000]	SWISS	140	COG1009	251831117,YP_003024036
4540	6648059	Disease	p.Phe124Leu	VAR_035424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035424	- Leigh syndrome (LS) [MIM:256000]	SWISS	149	COG0651	251831117,YP_003024036
4540	6648059	Disease	p.Phe124Leu	VAR_035424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035424	- Leigh syndrome (LS) [MIM:256000]	SWISS	129	COG1007	251831117,YP_003024036
4540	6648059	Disease	p.Glu145Gly	VAR_035425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035425	- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]	SWISS	190	COG1008	251831117,YP_003024036
4540	6648059	Disease	p.Glu145Gly	VAR_035425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035425	- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]	SWISS	12	pfam00361	251831117,YP_003024036
4540	6648059	Disease	p.Glu145Gly	VAR_035425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035425	- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]	SWISS	161	COG1009	251831117,YP_003024036
4540	6648059	Disease	p.Glu145Gly	VAR_035425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035425	- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]	SWISS	170	COG0651	251831117,YP_003024036
4540	6648059	Disease	p.Glu145Gly	VAR_035425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035425	- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]	SWISS	150	COG1007	251831117,YP_003024036
4540	6648059	Disease	p.Ala171Val	VAR_035426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035426	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	221	COG1008	251831117,YP_003024036
4540	6648059	Disease	p.Ala171Val	VAR_035426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035426	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	41	pfam00361	251831117,YP_003024036
4540	6648059	Disease	p.Ala171Val	VAR_035426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035426	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	207	COG1009	251831117,YP_003024036
4540	6648059	Disease	p.Ala171Val	VAR_035426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035426	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	201	COG0651	251831117,YP_003024036
4540	6648059	Disease	p.Ala171Val	VAR_035426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035426	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	174	COG1007	251831117,YP_003024036
4540	6648059	Disease	p.Asp393Asn	VAR_035430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035430	- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]	SWISS	485	COG1008	251831117,YP_003024036
4540	6648059	Disease	p.Asp393Asn	VAR_035430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035430	- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]	SWISS	315	pfam00361	251831117,YP_003024036
4540	6648059	Disease	p.Asp393Asn	VAR_035430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035430	- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]	SWISS	517	COG1009	251831117,YP_003024036
4540	6648059	Disease	p.Asp393Asn	VAR_035430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035430	- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]	SWISS	492	COG0651	251831117,YP_003024036
4540	6648059	Disease	p.Asp393Asn	VAR_035430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035430	- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]	SWISS	437	COG1007	251831117,YP_003024036
4540	6648059	Disease	p.Ala458Thr	VAR_004761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004761	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	582	COG1008	251831117,YP_003024036
4540	6648059	Disease	p.Ala458Thr	VAR_004761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004761	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	654	COG1009	251831117,YP_003024036
4540	6648059	Disease	p.Ala458Thr	VAR_004761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004761	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	596	COG0651	251831117,YP_003024036
4540	6648059	Disease	p.Ala458Thr	VAR_004761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004761	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	506	COG1007	251831117,YP_003024036
4540	6648059	Disease	p.Ala458Thr	VAR_004761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004761	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	37	pfam06455	251831117,YP_003024036
4540	6648059	Disease	p.Gly465Glu	VAR_004762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004762	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	589	COG1008	251831117,YP_003024036
4540	6648059	Disease	p.Gly465Glu	VAR_004762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004762	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	661	COG1009	251831117,YP_003024036
4540	6648059	Disease	p.Gly465Glu	VAR_004762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004762	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	603	COG0651	251831117,YP_003024036
4540	6648059	Disease	p.Gly465Glu	VAR_004762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004762	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	513	COG1007	251831117,YP_003024036
4540	6648059	Disease	p.Gly465Glu	VAR_004762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004762	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	44	pfam06455	251831117,YP_003024036
4541	6648060	Disease	p.Ile26Met	VAR_008394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008394	- Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]	SWISS	17	pfam00499	251831118,YP_003024037
4541	6648060	Disease	p.Gly36Ser	VAR_008395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008395	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	27	pfam00499	251831118,YP_003024037
4541	6648060	Disease	p.Tyr59Cys	VAR_008396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008396	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	55	pfam00499	251831118,YP_003024037
4541	6648060	Disease	p.Leu60Ser	VAR_014396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014396	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	56	pfam00499	251831118,YP_003024037
4541	6648060	Disease	p.Met64Ile	VAR_008512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008512	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	60	pfam00499	251831118,YP_003024037
4541	6648060	Disease	p.Met64Val	VAR_004763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004763	- Leber hereditary optic neuropathy (LHON) [MIM:535000]	SWISS	60	pfam00499	251831118,YP_003024037
4541	6648060	Disease	p.Ala72Val	VAR_004764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004764	- Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]	SWISS	68	pfam00499	251831118,YP_003024037
4541	6648060	Disease	p.Ala74Val	VAR_014397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014397	- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]	SWISS	70	pfam00499	251831118,YP_003024037
4524	56405339	Disease	p.Arg51Pro	VAR_009530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009530	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	3	pfam02219	87240000,NP_005948
4524	56405339	Disease	p.Arg51Pro	VAR_009530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009530	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	7	COG0685	87240000,NP_005948
4524	56405339	Disease	p.Arg52Gln	VAR_004319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004319	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	4	pfam02219	87240000,NP_005948
4524	56405339	Disease	p.Arg52Gln	VAR_004319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004319	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	8	COG0685	87240000,NP_005948
4524	56405339	Disease	p.Arg157Gln	VAR_004320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004320	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	121	cd00537	87240000,NP_005948
4524	56405339	Disease	p.Arg157Gln	VAR_004320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004320	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	114	pfam02219	87240000,NP_005948
4524	56405339	Disease	p.Arg157Gln	VAR_004320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004320	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	127	COG0685	87240000,NP_005948
4524	56405339	Disease	p.Thr227Met	VAR_004321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004321	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	236	cd00537	87240000,NP_005948
4524	56405339	Disease	p.Thr227Met	VAR_004321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004321	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	204	pfam02219	87240000,NP_005948
4524	56405339	Disease	p.Thr227Met	VAR_004321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004321	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	225	COG0685	87240000,NP_005948
4524	56405339	Disease	p.Pro251Leu	VAR_004322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004322	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	267	cd00537	87240000,NP_005948
4524	56405339	Disease	p.Pro251Leu	VAR_004322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004322	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	232	pfam02219	87240000,NP_005948
4524	56405339	Disease	p.Pro251Leu	VAR_004322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004322	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	253	COG0685	87240000,NP_005948
4524	56405339	Disease	p.Leu323Pro	VAR_009531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009531	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	352	cd00537	87240000,NP_005948
4524	56405339	Disease	p.Leu323Pro	VAR_009531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009531	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	308	pfam02219	87240000,NP_005948
4524	56405339	Disease	p.Leu323Pro	VAR_009531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009531	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	333	COG0685	87240000,NP_005948
4524	56405339	Disease	p.Asn324Ser	VAR_009532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009532	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	353	cd00537	87240000,NP_005948
4524	56405339	Disease	p.Asn324Ser	VAR_009532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009532	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	309	pfam02219	87240000,NP_005948
4524	56405339	Disease	p.Asn324Ser	VAR_009532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009532	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	334	COG0685	87240000,NP_005948
4524	56405339	Disease	p.Arg325Cys	VAR_004323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004323	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	354	cd00537	87240000,NP_005948
4524	56405339	Disease	p.Arg325Cys	VAR_004323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004323	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	310	pfam02219	87240000,NP_005948
4524	56405339	Disease	p.Arg325Cys	VAR_004323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004323	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	335	COG0685	87240000,NP_005948
4524	56405339	Disease	p.Arg335Cys	VAR_004324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004324	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	374	cd00537	87240000,NP_005948
4524	56405339	Disease	p.Arg335Cys	VAR_004324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004324	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	320	pfam02219	87240000,NP_005948
4524	56405339	Disease	p.Arg335Cys	VAR_004324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004324	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	345	COG0685	87240000,NP_005948
4524	56405339	Disease	p.Trp339Gly	VAR_009533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009533	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	349	COG0685	87240000,NP_005948
4524	56405339	Disease	p.Arg357Cys	VAR_004325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004325	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	No Domain	N/A	87240000,NP_005948
4524	56405339	Disease	p.Arg377Cys	VAR_009534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009534	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	No Domain	N/A	87240000,NP_005948
4524	56405339	Disease	p.Gly387Asp	VAR_009535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009535	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	No Domain	N/A	87240000,NP_005948
4524	56405339	Disease	p.Pro572Leu	VAR_009536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009536	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	No Domain	N/A	87240000,NP_005948
4524	56405339	Disease	p.Glu586Lys	VAR_009537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009537	- Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	SWISS	No Domain	N/A	87240000,NP_005948
4534	2851537	Disease	p.Val49Phe	VAR_018227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018227	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	25	smart00568	4557896,NP_000243
4534	2851537	Disease	p.Val49Phe	VAR_018227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018227	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	15	pfam02893	4557896,NP_000243
4534	2851537	Disease	p.Tyr68Asp	VAR_018228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018228	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	63	smart00568	4557896,NP_000243
4534	2851537	Disease	p.Tyr68Asp	VAR_018228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018228	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	52	pfam02893	4557896,NP_000243
4534	2851537	Disease	p.Arg69Cys	VAR_006387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006387	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	64	smart00568	4557896,NP_000243
4534	2851537	Disease	p.Arg69Cys	VAR_006387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006387	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	53	pfam02893	4557896,NP_000243
4534	2851537	Disease	p.Arg69Pro	VAR_018229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018229	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	64	smart00568	4557896,NP_000243
4534	2851537	Disease	p.Arg69Pro	VAR_018229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018229	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	53	pfam02893	4557896,NP_000243
4534	2851537	Disease	p.Arg69Ser	VAR_018230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018230	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	64	smart00568	4557896,NP_000243
4534	2851537	Disease	p.Arg69Ser	VAR_018230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018230	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	53	pfam02893	4557896,NP_000243
4534	2851537	Disease	p.Leu70Phe	VAR_006388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006388	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	65	smart00568	4557896,NP_000243
4534	2851537	Disease	p.Leu70Phe	VAR_006388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006388	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	54	pfam02893	4557896,NP_000243
4534	2851537	Disease	p.Leu87Pro	VAR_006389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006389	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	122	smart00568	4557896,NP_000243
4534	2851537	Disease	p.Leu87Pro	VAR_006389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006389	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	82	pfam02893	4557896,NP_000243
4534	2851537	Disease	p.Glu157Lys	VAR_018231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018231	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	No Domain	N/A	4557896,NP_000243
4534	2851537	Disease	p.Pro179Ser	VAR_009217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009217	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	No Domain	N/A	4557896,NP_000243
4534	2851537	Disease	p.Asn180Lys	VAR_018232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018232	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	No Domain	N/A	4557896,NP_000243
4534	2851537	Disease	p.Arg184Gly	VAR_006390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006390	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	No Domain	N/A	4557896,NP_000243
4534	2851537	Disease	p.Arg184Leu	VAR_018233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018233	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	No Domain	N/A	4557896,NP_000243
4534	2851537	Disease	p.Thr186Ile	VAR_018234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018234	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	No Domain	N/A	4557896,NP_000243
4534	2851537	Disease	p.Asn189Ser	VAR_006391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006391	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	No Domain	N/A	4557896,NP_000243
4534	2851537	Disease	p.Thr197Ile	VAR_018235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018235	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	6	pfam06602	4557896,NP_000243
4534	2851537	Disease	p.Tyr198Asn	VAR_006392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006392	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	7	pfam06602	4557896,NP_000243
4534	2851537	Disease	p.Pro199Ser	VAR_018236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018236	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	8	pfam06602	4557896,NP_000243
4534	2851537	Disease	p.Leu202Ser	VAR_018237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018237	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	11	pfam06602	4557896,NP_000243
4534	2851537	Disease	p.Pro205Leu	VAR_006393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006393	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	14	pfam06602	4557896,NP_000243
4534	2851537	Disease	p.Ile225Thr	VAR_009218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009218	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	37	pfam06602	4557896,NP_000243
4534	2851537	Disease	p.Pro226Thr	VAR_018238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018238	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	38	pfam06602	4557896,NP_000243
4534	2851537	Disease	p.Val227Met	VAR_018239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018239	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	39	pfam06602	4557896,NP_000243
4534	2851537	Disease	p.Leu228Pro	VAR_018240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018240	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	40	pfam06602	4557896,NP_000243
4534	2851537	Disease	p.Ser229Pro	VAR_006394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006394	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	41	pfam06602	4557896,NP_000243
4534	2851537	Disease	p.Trp230Cys	VAR_018241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018241	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	42	pfam06602	4557896,NP_000243
4534	2851537	Disease	p.His232Arg	VAR_018242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018242	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	44	pfam06602	4557896,NP_000243
4534	2851537	Disease	p.Arg241Cys	VAR_006395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006395	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	53	pfam06602	4557896,NP_000243
4534	2851537	Disease	p.Arg241Leu	VAR_006396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006396	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	53	pfam06602	4557896,NP_000243
4534	2851537	Disease	p.Ile264Ser	VAR_009219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009219	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	77	pfam06602	4557896,NP_000243
4534	2851537	Disease	p.Ala279Gly	VAR_018243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018243	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	137	pfam06602	4557896,NP_000243
4534	2851537	Disease	p.Met317Arg	VAR_006397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006397	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	No Domain	N/A	4557896,NP_000243
4534	2851537	Disease	p.Trp346Cys	VAR_018244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018244	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	91	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Trp346Cys	VAR_018244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018244	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	91	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Trp346Ser	VAR_018245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018245	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	91	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Trp346Ser	VAR_018245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018245	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	91	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Val364Gly	VAR_018246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018246	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	218	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Val364Gly	VAR_018246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018246	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	218	smart00012	4557896,NP_000243
4534	2851537	Disease	p.His374Asp	VAR_018247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018247	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	235	smart00404	4557896,NP_000243
4534	2851537	Disease	p.His374Asp	VAR_018247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018247	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	235	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Ser376Asn	VAR_006398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006398	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	237	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Ser376Asn	VAR_006398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006398	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	237	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Gly378Glu	VAR_018248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018248	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	239	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Gly378Glu	VAR_018248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018248	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	239	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Gly378Arg	VAR_006399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006399	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	239	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Gly378Arg	VAR_006399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006399	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	239	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Ala389Asp	VAR_018249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018249	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	250	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Ala389Asp	VAR_018249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018249	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	250	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Leu391Pro	VAR_018250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018250	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	252	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Leu391Pro	VAR_018250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018250	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	252	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Tyr397Cys	VAR_006400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006400	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	280	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Tyr397Cys	VAR_006400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006400	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	280	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Gly402Ala	VAR_006401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006401	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	293	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Gly402Ala	VAR_006401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006401	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	293	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Gly402Arg	VAR_018251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018251	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	293	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Gly402Arg	VAR_018251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018251	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	293	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Gly402Val	VAR_018252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018252	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	293	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Gly402Val	VAR_018252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018252	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	293	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Glu404Lys	VAR_006402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006402	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	295	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Glu404Lys	VAR_006402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006402	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	295	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Leu406Pro	VAR_006403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006403	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	297	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Leu406Pro	VAR_006403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006403	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	297	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Trp411Cys	VAR_018253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018253	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	302	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Trp411Cys	VAR_018253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018253	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	302	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Arg421Gln	VAR_006404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006404	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	314	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Arg421Gln	VAR_006404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006404	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	314	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Asp431Asn	VAR_006406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006406	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	324	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Asp431Asn	VAR_006406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006406	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	324	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Asp433Asn	VAR_006407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006407	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	326	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Asp433Asn	VAR_006407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006407	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	326	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Cys444Tyr	VAR_018254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018254	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	341	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Cys444Tyr	VAR_018254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018254	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	341	smart00012	4557896,NP_000243
4534	2851537	Disease	p.His469Pro	VAR_006408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006408	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	370	smart00404	4557896,NP_000243
4534	2851537	Disease	p.His469Pro	VAR_006408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006408	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	370	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Leu470Pro	VAR_018255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018255	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	371	smart00404	4557896,NP_000243
4534	2851537	Disease	p.Leu470Pro	VAR_018255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018255	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	371	smart00012	4557896,NP_000243
4534	2851537	Disease	p.Asn481Tyr	VAR_018256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018256	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	No Domain	N/A	4557896,NP_000243
4534	2851537	Disease	p.Trp499Arg	VAR_006409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006409	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	No Domain	N/A	4557896,NP_000243
4534	2851537	Disease	p.Lys510Asn	VAR_009222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009222	- Centronuclear myopathy X-linked (XCNM) [MIM:310400]	SWISS	No Domain	N/A	4557896,NP_000243
8898	212276520	Disease	p.Arg283Trp	VAR_047947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047947	- Charcot-Marie-Tooth disease type 4B1 (CMT4B1) [MIM:601382]	SWISS	53	pfam06602	44680154,NP_057240
4548	2842762	Disease	p.His920Asp	VAR_004330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004330	rs28933097 Methylcobalamin deficiency type G (cblG) [MIM:250940]	SWISS	602	COG1410	169790923,NP_000245
4548	2842762	Disease	p.Pro1173Leu	VAR_004331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004331	- Methylcobalamin deficiency type G (cblG) [MIM:250940]	SWISS	895	COG1410	169790923,NP_000245
4548	2842762	Disease	p.Pro1173Leu	VAR_004331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004331	- Methylcobalamin deficiency type G (cblG) [MIM:250940]	SWISS	86	pfam02965	169790923,NP_000245
4552	296439300	Disease	p.Val83Met	VAR_012838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012838	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	59	pfam00258	169790956,NP_076915
4552	296439300	Disease	p.Val83Met	VAR_012838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012838	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	83	COG0716	169790956,NP_076915
4552	296439300	Disease	p.Val83Met	VAR_012838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012838	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	149	COG0369	169790956,NP_076915
4552	296439300	Disease	p.Ala156Thr	VAR_012839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012839	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	225	pfam00258	169790956,NP_076915
4552	296439300	Disease	p.Ala156Thr	VAR_012839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012839	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	174	COG0716	169790956,NP_076915
4552	296439300	Disease	p.Ala156Thr	VAR_012839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012839	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	239	COG0369	169790956,NP_076915
4552	296439300	Disease	p.Cys432Arg	VAR_012841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012841	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	14	cd06201	169790956,NP_076915
4552	296439300	Disease	p.Cys432Arg	VAR_012841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012841	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	173	cd00322	169790956,NP_076915
4552	296439300	Disease	p.Cys432Arg	VAR_012841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012841	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	146	cd06203	169790956,NP_076915
4552	296439300	Disease	p.Cys432Arg	VAR_012841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012841	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	129	cd06199	169790956,NP_076915
4552	296439300	Disease	p.Cys432Arg	VAR_012841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012841	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	171	cd06182	169790956,NP_076915
4552	296439300	Disease	p.Cys432Arg	VAR_012841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012841	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	188	cd06207	169790956,NP_076915
4552	296439300	Disease	p.Cys432Arg	VAR_012841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012841	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	140	cd06202	169790956,NP_076915
4552	296439300	Disease	p.Cys432Arg	VAR_012841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012841	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	161	cd06206	169790956,NP_076915
4552	296439300	Disease	p.Cys432Arg	VAR_012841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012841	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	149	pfam00667	169790956,NP_076915
4552	296439300	Disease	p.Cys432Arg	VAR_012841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012841	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	501	COG0369	169790956,NP_076915
4552	296439300	Disease	p.Cys432Arg	VAR_012841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012841	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	143	cd06204	169790956,NP_076915
4552	296439300	Disease	p.Gly514Arg	VAR_012842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012842	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	157	cd06201	169790956,NP_076915
4552	296439300	Disease	p.Gly514Arg	VAR_012842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012842	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	291	cd00322	169790956,NP_076915
4552	296439300	Disease	p.Gly514Arg	VAR_012842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012842	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	234	cd06203	169790956,NP_076915
4552	296439300	Disease	p.Gly514Arg	VAR_012842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012842	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	240	cd06199	169790956,NP_076915
4552	296439300	Disease	p.Gly514Arg	VAR_012842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012842	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	288	cd06182	169790956,NP_076915
4552	296439300	Disease	p.Gly514Arg	VAR_012842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012842	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	275	cd06207	169790956,NP_076915
4552	296439300	Disease	p.Gly514Arg	VAR_012842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012842	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	142	cd06200	169790956,NP_076915
4552	296439300	Disease	p.Gly514Arg	VAR_012842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012842	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	220	cd06202	169790956,NP_076915
4552	296439300	Disease	p.Gly514Arg	VAR_012842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012842	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	285	cd06206	169790956,NP_076915
4552	296439300	Disease	p.Gly514Arg	VAR_012842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012842	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	235	pfam00667	169790956,NP_076915
4552	296439300	Disease	p.Gly514Arg	VAR_012842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012842	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	591	COG0369	169790956,NP_076915
4552	296439300	Disease	p.Gly514Arg	VAR_012842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012842	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	17	cd06208	169790956,NP_076915
4552	296439300	Disease	p.Gly514Arg	VAR_012842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012842	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	114	cd06195	169790956,NP_076915
4552	296439300	Disease	p.Gly514Arg	VAR_012842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012842	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	250	cd06204	169790956,NP_076915
4552	296439300	Disease	p.Gly581Arg	VAR_015731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015731	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	205	cd06201	169790956,NP_076915
4552	296439300	Disease	p.Gly581Arg	VAR_015731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015731	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	382	cd00322	169790956,NP_076915
4552	296439300	Disease	p.Gly581Arg	VAR_015731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015731	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	331	cd06203	169790956,NP_076915
4552	296439300	Disease	p.Gly581Arg	VAR_015731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015731	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	297	cd06199	169790956,NP_076915
4552	296439300	Disease	p.Gly581Arg	VAR_015731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015731	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	368	cd06182	169790956,NP_076915
4552	296439300	Disease	p.Gly581Arg	VAR_015731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015731	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	333	cd06207	169790956,NP_076915
4552	296439300	Disease	p.Gly581Arg	VAR_015731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015731	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	196	cd06200	169790956,NP_076915
4552	296439300	Disease	p.Gly581Arg	VAR_015731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015731	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	269	cd06202	169790956,NP_076915
4552	296439300	Disease	p.Gly581Arg	VAR_015731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015731	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	341	cd06206	169790956,NP_076915
4552	296439300	Disease	p.Gly581Arg	VAR_015731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015731	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	14	pfam00175	169790956,NP_076915
4552	296439300	Disease	p.Gly581Arg	VAR_015731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015731	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	684	COG0369	169790956,NP_076915
4552	296439300	Disease	p.Gly581Arg	VAR_015731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015731	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	213	cd06208	169790956,NP_076915
4552	296439300	Disease	p.Gly581Arg	VAR_015731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015731	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	169	cd06195	169790956,NP_076915
4552	296439300	Disease	p.Gly581Arg	VAR_015731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015731	- Methylcobalamin deficiency type E (cblE) [MIM:236270]	SWISS	343	cd06204	169790956,NP_076915
4547	1709167	Disease	p.Arg540His	VAR_010642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010642	- Abetalipoproteinemia (ABL) [MIM:200100]	SWISS	1031	smart00638	153285408,NP_000244
4547	1709167	Disease	p.Arg540His	VAR_010642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010642	- Abetalipoproteinemia (ABL) [MIM:200100]	SWISS	835	pfam01347	153285408,NP_000244
4547	1709167	Disease	p.Ser590Ile	VAR_010643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010643	- Abetalipoproteinemia (ABL) [MIM:200100]	SWISS	No Domain	N/A	153285408,NP_000244
4547	1709167	Disease	p.Gly746Glu	VAR_010644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010644	- Abetalipoproteinemia (ABL) [MIM:200100]	SWISS	No Domain	N/A	153285408,NP_000244
4547	1709167	Disease	p.Asn780Tyr	VAR_014019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014019	- Abetalipoproteinemia (ABL) [MIM:200100]	SWISS	No Domain	N/A	153285408,NP_000244
4594	67469281	Disease	p.Pro86Leu	VAR_026592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026592	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	67	cd03677	NULL
4594	67469281	Disease	p.Pro86Leu	VAR_026592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026592	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	62	cd03680	NULL
4594	67469281	Disease	p.Pro86Leu	VAR_026592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026592	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	56	cd03679	NULL
4594	67469281	Disease	p.Pro86Leu	VAR_026592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026592	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	32	pfam01642	NULL
4594	67469281	Disease	p.Pro86Leu	VAR_026592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026592	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	64	cd03678	NULL
4594	67469281	Disease	p.Pro86Leu	VAR_026592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026592	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	65	COG1884	NULL
4594	67469281	Disease	p.Gly87Glu	VAR_026593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026593	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	68	cd03677	NULL
4594	67469281	Disease	p.Gly87Glu	VAR_026593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026593	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	63	cd03680	NULL
4594	67469281	Disease	p.Gly87Glu	VAR_026593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026593	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	57	cd03679	NULL
4594	67469281	Disease	p.Gly87Glu	VAR_026593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026593	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	33	pfam01642	NULL
4594	67469281	Disease	p.Gly87Glu	VAR_026593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026593	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	65	cd03678	NULL
4594	67469281	Disease	p.Gly87Glu	VAR_026593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026593	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	66	COG1884	NULL
4594	67469281	Disease	p.Arg93His	VAR_004409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004409	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	74	cd03677	NULL
4594	67469281	Disease	p.Arg93His	VAR_004409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004409	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	69	cd03680	NULL
4594	67469281	Disease	p.Arg93His	VAR_004409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004409	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	63	cd03679	NULL
4594	67469281	Disease	p.Arg93His	VAR_004409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004409	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	39	pfam01642	NULL
4594	67469281	Disease	p.Arg93His	VAR_004409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004409	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	71	cd03678	NULL
4594	67469281	Disease	p.Arg93His	VAR_004409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004409	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	72	COG1884	NULL
4594	67469281	Disease	p.Gly94Arg	VAR_026594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026594	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	75	cd03677	NULL
4594	67469281	Disease	p.Gly94Arg	VAR_026594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026594	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	70	cd03680	NULL
4594	67469281	Disease	p.Gly94Arg	VAR_026594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026594	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	64	cd03679	NULL
4594	67469281	Disease	p.Gly94Arg	VAR_026594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026594	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	40	pfam01642	NULL
4594	67469281	Disease	p.Gly94Arg	VAR_026594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026594	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	72	cd03678	NULL
4594	67469281	Disease	p.Gly94Arg	VAR_026594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026594	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	73	COG1884	NULL
4594	67469281	Disease	p.Gly94Val	VAR_022393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022393	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	75	cd03677	NULL
4594	67469281	Disease	p.Gly94Val	VAR_022393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022393	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	70	cd03680	NULL
4594	67469281	Disease	p.Gly94Val	VAR_022393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022393	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	64	cd03679	NULL
4594	67469281	Disease	p.Gly94Val	VAR_022393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022393	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	40	pfam01642	NULL
4594	67469281	Disease	p.Gly94Val	VAR_022393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022393	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	72	cd03678	NULL
4594	67469281	Disease	p.Gly94Val	VAR_022393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022393	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	73	COG1884	NULL
4594	67469281	Disease	p.Pro95Arg	VAR_026595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026595	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	76	cd03677	NULL
4594	67469281	Disease	p.Pro95Arg	VAR_026595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026595	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	71	cd03680	NULL
4594	67469281	Disease	p.Pro95Arg	VAR_026595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026595	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	65	cd03679	NULL
4594	67469281	Disease	p.Pro95Arg	VAR_026595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026595	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	41	pfam01642	NULL
4594	67469281	Disease	p.Pro95Arg	VAR_026595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026595	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	73	cd03678	NULL
4594	67469281	Disease	p.Pro95Arg	VAR_026595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026595	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	74	COG1884	NULL
4594	67469281	Disease	p.Trp105Arg	VAR_004410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004410	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	2	cd00512	NULL
4594	67469281	Disease	p.Trp105Arg	VAR_004410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004410	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	2	cd03681	NULL
4594	67469281	Disease	p.Trp105Arg	VAR_004410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004410	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	86	cd03677	NULL
4594	67469281	Disease	p.Trp105Arg	VAR_004410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004410	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	81	cd03680	NULL
4594	67469281	Disease	p.Trp105Arg	VAR_004410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004410	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	75	cd03679	NULL
4594	67469281	Disease	p.Trp105Arg	VAR_004410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004410	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	51	pfam01642	NULL
4594	67469281	Disease	p.Trp105Arg	VAR_004410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004410	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	83	cd03678	NULL
4594	67469281	Disease	p.Trp105Arg	VAR_004410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004410	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	87	COG1884	NULL
4594	67469281	Disease	p.Arg108Cys	VAR_026596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026596	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	5	cd00512	NULL
4594	67469281	Disease	p.Arg108Cys	VAR_026596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026596	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	5	cd03681	NULL
4594	67469281	Disease	p.Arg108Cys	VAR_026596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026596	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	89	cd03677	NULL
4594	67469281	Disease	p.Arg108Cys	VAR_026596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026596	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	84	cd03680	NULL
4594	67469281	Disease	p.Arg108Cys	VAR_026596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026596	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	78	cd03679	NULL
4594	67469281	Disease	p.Arg108Cys	VAR_026596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026596	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	54	pfam01642	NULL
4594	67469281	Disease	p.Arg108Cys	VAR_026596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026596	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	85	cd03678	NULL
4594	67469281	Disease	p.Arg108Cys	VAR_026596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026596	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	90	COG1884	NULL
4594	67469281	Disease	p.Arg108Gly	VAR_026597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026597	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	5	cd00512	NULL
4594	67469281	Disease	p.Arg108Gly	VAR_026597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026597	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	5	cd03681	NULL
4594	67469281	Disease	p.Arg108Gly	VAR_026597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026597	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	89	cd03677	NULL
4594	67469281	Disease	p.Arg108Gly	VAR_026597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026597	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	84	cd03680	NULL
4594	67469281	Disease	p.Arg108Gly	VAR_026597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026597	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	78	cd03679	NULL
4594	67469281	Disease	p.Arg108Gly	VAR_026597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026597	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	54	pfam01642	NULL
4594	67469281	Disease	p.Arg108Gly	VAR_026597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026597	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	85	cd03678	NULL
4594	67469281	Disease	p.Arg108Gly	VAR_026597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026597	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	90	COG1884	NULL
4594	67469281	Disease	p.Arg108His	VAR_022394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022394	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	5	cd00512	NULL
4594	67469281	Disease	p.Arg108His	VAR_022394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022394	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	5	cd03681	NULL
4594	67469281	Disease	p.Arg108His	VAR_022394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022394	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	89	cd03677	NULL
4594	67469281	Disease	p.Arg108His	VAR_022394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022394	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	84	cd03680	NULL
4594	67469281	Disease	p.Arg108His	VAR_022394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022394	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	78	cd03679	NULL
4594	67469281	Disease	p.Arg108His	VAR_022394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022394	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	54	pfam01642	NULL
4594	67469281	Disease	p.Arg108His	VAR_022394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022394	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	85	cd03678	NULL
4594	67469281	Disease	p.Arg108His	VAR_022394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022394	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	90	COG1884	NULL
4594	67469281	Disease	p.Gln109Arg	VAR_023473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023473	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	6	cd00512	NULL
4594	67469281	Disease	p.Gln109Arg	VAR_023473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023473	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	6	cd03681	NULL
4594	67469281	Disease	p.Gln109Arg	VAR_023473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023473	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	90	cd03677	NULL
4594	67469281	Disease	p.Gln109Arg	VAR_023473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023473	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	85	cd03680	NULL
4594	67469281	Disease	p.Gln109Arg	VAR_023473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023473	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	79	cd03679	NULL
4594	67469281	Disease	p.Gln109Arg	VAR_023473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023473	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	55	pfam01642	NULL
4594	67469281	Disease	p.Gln109Arg	VAR_023473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023473	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	86	cd03678	NULL
4594	67469281	Disease	p.Gln109Arg	VAR_023473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023473	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	91	COG1884	NULL
4594	67469281	Disease	p.Ala137Val	VAR_022395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022395	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	35	cd00512	NULL
4594	67469281	Disease	p.Ala137Val	VAR_022395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022395	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	34	cd03681	NULL
4594	67469281	Disease	p.Ala137Val	VAR_022395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022395	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	121	cd03677	NULL
4594	67469281	Disease	p.Ala137Val	VAR_022395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022395	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	113	cd03680	NULL
4594	67469281	Disease	p.Ala137Val	VAR_022395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022395	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	107	cd03679	NULL
4594	67469281	Disease	p.Ala137Val	VAR_022395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022395	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	83	pfam01642	NULL
4594	67469281	Disease	p.Ala137Val	VAR_022395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022395	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	115	cd03678	NULL
4594	67469281	Disease	p.Ala137Val	VAR_022395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022395	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	125	COG1884	NULL
4594	67469281	Disease	p.Gly145Ser	VAR_026598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026598	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	43	cd00512	NULL
4594	67469281	Disease	p.Gly145Ser	VAR_026598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026598	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	42	cd03681	NULL
4594	67469281	Disease	p.Gly145Ser	VAR_026598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026598	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	129	cd03677	NULL
4594	67469281	Disease	p.Gly145Ser	VAR_026598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026598	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	121	cd03680	NULL
4594	67469281	Disease	p.Gly145Ser	VAR_026598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026598	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	115	cd03679	NULL
4594	67469281	Disease	p.Gly145Ser	VAR_026598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026598	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	91	pfam01642	NULL
4594	67469281	Disease	p.Gly145Ser	VAR_026598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026598	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	123	cd03678	NULL
4594	67469281	Disease	p.Gly145Ser	VAR_026598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026598	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	133	COG1884	NULL
4594	67469281	Disease	p.Ser148Leu	VAR_022396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022396	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	46	cd00512	NULL
4594	67469281	Disease	p.Ser148Leu	VAR_022396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022396	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	45	cd03681	NULL
4594	67469281	Disease	p.Ser148Leu	VAR_022396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022396	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	132	cd03677	NULL
4594	67469281	Disease	p.Ser148Leu	VAR_022396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022396	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	124	cd03680	NULL
4594	67469281	Disease	p.Ser148Leu	VAR_022396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022396	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	118	cd03679	NULL
4594	67469281	Disease	p.Ser148Leu	VAR_022396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022396	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	94	pfam01642	NULL
4594	67469281	Disease	p.Ser148Leu	VAR_022396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022396	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	126	cd03678	NULL
4594	67469281	Disease	p.Ser148Leu	VAR_022396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022396	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	136	COG1884	NULL
4594	67469281	Disease	p.Asp156Asn	VAR_022397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022397	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	60	cd00512	NULL
4594	67469281	Disease	p.Asp156Asn	VAR_022397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022397	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	53	cd03681	NULL
4594	67469281	Disease	p.Asp156Asn	VAR_022397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022397	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	140	cd03677	NULL
4594	67469281	Disease	p.Asp156Asn	VAR_022397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022397	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	132	cd03680	NULL
4594	67469281	Disease	p.Asp156Asn	VAR_022397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022397	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	126	cd03679	NULL
4594	67469281	Disease	p.Asp156Asn	VAR_022397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022397	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	102	pfam01642	NULL
4594	67469281	Disease	p.Asp156Asn	VAR_022397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022397	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	135	cd03678	NULL
4594	67469281	Disease	p.Asp156Asn	VAR_022397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022397	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	145	COG1884	NULL
4594	67469281	Disease	p.Gly158Val	VAR_022398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022398	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	62	cd00512	NULL
4594	67469281	Disease	p.Gly158Val	VAR_022398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022398	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	55	cd03681	NULL
4594	67469281	Disease	p.Gly158Val	VAR_022398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022398	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	142	cd03677	NULL
4594	67469281	Disease	p.Gly158Val	VAR_022398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022398	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	134	cd03680	NULL
4594	67469281	Disease	p.Gly158Val	VAR_022398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022398	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	128	cd03679	NULL
4594	67469281	Disease	p.Gly158Val	VAR_022398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022398	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	104	pfam01642	NULL
4594	67469281	Disease	p.Gly158Val	VAR_022398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022398	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	137	cd03678	NULL
4594	67469281	Disease	p.Gly158Val	VAR_022398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022398	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	147	COG1884	NULL
4594	67469281	Disease	p.Phe174Ser	VAR_022399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022399	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	78	cd00512	NULL
4594	67469281	Disease	p.Phe174Ser	VAR_022399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022399	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	71	cd03681	NULL
4594	67469281	Disease	p.Phe174Ser	VAR_022399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022399	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	158	cd03677	NULL
4594	67469281	Disease	p.Phe174Ser	VAR_022399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022399	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	150	cd03680	NULL
4594	67469281	Disease	p.Phe174Ser	VAR_022399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022399	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	144	cd03679	NULL
4594	67469281	Disease	p.Phe174Ser	VAR_022399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022399	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	120	pfam01642	NULL
4594	67469281	Disease	p.Phe174Ser	VAR_022399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022399	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	153	cd03678	NULL
4594	67469281	Disease	p.Phe174Ser	VAR_022399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022399	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	172	COG1884	NULL
4594	67469281	Disease	p.Met186Val	VAR_026599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026599	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	92	cd00512	NULL
4594	67469281	Disease	p.Met186Val	VAR_026599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026599	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	83	cd03681	NULL
4594	67469281	Disease	p.Met186Val	VAR_026599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026599	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	175	cd03677	NULL
4594	67469281	Disease	p.Met186Val	VAR_026599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026599	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	162	cd03680	NULL
4594	67469281	Disease	p.Met186Val	VAR_026599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026599	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	156	cd03679	NULL
4594	67469281	Disease	p.Met186Val	VAR_026599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026599	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	136	pfam01642	NULL
4594	67469281	Disease	p.Met186Val	VAR_026599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026599	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	167	cd03678	NULL
4594	67469281	Disease	p.Met186Val	VAR_026599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026599	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	186	COG1884	NULL
4594	67469281	Disease	p.Asn189Lys	VAR_026600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026600	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	95	cd00512	NULL
4594	67469281	Disease	p.Asn189Lys	VAR_026600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026600	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	86	cd03681	NULL
4594	67469281	Disease	p.Asn189Lys	VAR_026600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026600	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	178	cd03677	NULL
4594	67469281	Disease	p.Asn189Lys	VAR_026600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026600	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	165	cd03680	NULL
4594	67469281	Disease	p.Asn189Lys	VAR_026600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026600	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	159	cd03679	NULL
4594	67469281	Disease	p.Asn189Lys	VAR_026600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026600	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	139	pfam01642	NULL
4594	67469281	Disease	p.Asn189Lys	VAR_026600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026600	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	170	cd03678	NULL
4594	67469281	Disease	p.Asn189Lys	VAR_026600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026600	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	189	COG1884	NULL
4594	67469281	Disease	p.Ala191Glu	VAR_004411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004411	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	97	cd00512	NULL
4594	67469281	Disease	p.Ala191Glu	VAR_004411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004411	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	88	cd03681	NULL
4594	67469281	Disease	p.Ala191Glu	VAR_004411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004411	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	180	cd03677	NULL
4594	67469281	Disease	p.Ala191Glu	VAR_004411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004411	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	167	cd03680	NULL
4594	67469281	Disease	p.Ala191Glu	VAR_004411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004411	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	161	cd03679	NULL
4594	67469281	Disease	p.Ala191Glu	VAR_004411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004411	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	141	pfam01642	NULL
4594	67469281	Disease	p.Ala191Glu	VAR_004411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004411	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	172	cd03678	NULL
4594	67469281	Disease	p.Ala191Glu	VAR_004411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004411	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	191	COG1884	NULL
4594	67469281	Disease	p.Ala197Glu	VAR_026601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026601	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	104	cd00512	NULL
4594	67469281	Disease	p.Ala197Glu	VAR_026601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026601	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	94	cd03681	NULL
4594	67469281	Disease	p.Ala197Glu	VAR_026601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026601	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	189	cd03677	NULL
4594	67469281	Disease	p.Ala197Glu	VAR_026601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026601	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	173	cd03680	NULL
4594	67469281	Disease	p.Ala197Glu	VAR_026601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026601	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	167	cd03679	NULL
4594	67469281	Disease	p.Ala197Glu	VAR_026601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026601	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	147	pfam01642	NULL
4594	67469281	Disease	p.Ala197Glu	VAR_026601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026601	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	178	cd03678	NULL
4594	67469281	Disease	p.Ala197Glu	VAR_026601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026601	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	197	COG1884	NULL
4594	67469281	Disease	p.Gly203Arg	VAR_022400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022400	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	110	cd00512	NULL
4594	67469281	Disease	p.Gly203Arg	VAR_022400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022400	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	100	cd03681	NULL
4594	67469281	Disease	p.Gly203Arg	VAR_022400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022400	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	195	cd03677	NULL
4594	67469281	Disease	p.Gly203Arg	VAR_022400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022400	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	179	cd03680	NULL
4594	67469281	Disease	p.Gly203Arg	VAR_022400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022400	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	173	cd03679	NULL
4594	67469281	Disease	p.Gly203Arg	VAR_022400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022400	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	153	pfam01642	NULL
4594	67469281	Disease	p.Gly203Arg	VAR_022400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022400	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	184	cd03678	NULL
4594	67469281	Disease	p.Gly203Arg	VAR_022400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022400	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	211	COG1884	NULL
4594	67469281	Disease	p.Gly215Cys	VAR_026602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026602	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	144	cd00512	NULL
4594	67469281	Disease	p.Gly215Cys	VAR_026602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026602	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	112	cd03681	NULL
4594	67469281	Disease	p.Gly215Cys	VAR_026602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026602	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	208	cd03677	NULL
4594	67469281	Disease	p.Gly215Cys	VAR_026602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026602	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	191	cd03680	NULL
4594	67469281	Disease	p.Gly215Cys	VAR_026602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026602	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	185	cd03679	NULL
4594	67469281	Disease	p.Gly215Cys	VAR_026602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026602	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	165	pfam01642	NULL
4594	67469281	Disease	p.Gly215Cys	VAR_026602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026602	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	262	cd03678	NULL
4594	67469281	Disease	p.Gly215Cys	VAR_026602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026602	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	238	COG1884	NULL
4594	67469281	Disease	p.Gly215Ser	VAR_022401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022401	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	144	cd00512	NULL
4594	67469281	Disease	p.Gly215Ser	VAR_022401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022401	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	112	cd03681	NULL
4594	67469281	Disease	p.Gly215Ser	VAR_022401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022401	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	208	cd03677	NULL
4594	67469281	Disease	p.Gly215Ser	VAR_022401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022401	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	191	cd03680	NULL
4594	67469281	Disease	p.Gly215Ser	VAR_022401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022401	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	185	cd03679	NULL
4594	67469281	Disease	p.Gly215Ser	VAR_022401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022401	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	165	pfam01642	NULL
4594	67469281	Disease	p.Gly215Ser	VAR_022401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022401	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	262	cd03678	NULL
4594	67469281	Disease	p.Gly215Ser	VAR_022401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022401	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	238	COG1884	NULL
4594	67469281	Disease	p.Gln218His	VAR_022402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022402	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	147	cd00512	NULL
4594	67469281	Disease	p.Gln218His	VAR_022402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022402	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	115	cd03681	NULL
4594	67469281	Disease	p.Gln218His	VAR_022402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022402	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	211	cd03677	NULL
4594	67469281	Disease	p.Gln218His	VAR_022402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022402	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	194	cd03680	NULL
4594	67469281	Disease	p.Gln218His	VAR_022402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022402	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	188	cd03679	NULL
4594	67469281	Disease	p.Gln218His	VAR_022402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022402	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	168	pfam01642	NULL
4594	67469281	Disease	p.Gln218His	VAR_022402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022402	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	265	cd03678	NULL
4594	67469281	Disease	p.Gln218His	VAR_022402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022402	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	241	COG1884	NULL
4594	67469281	Disease	p.Asn219Tyr	VAR_022403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022403	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	148	cd00512	NULL
4594	67469281	Disease	p.Asn219Tyr	VAR_022403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022403	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	116	cd03681	NULL
4594	67469281	Disease	p.Asn219Tyr	VAR_022403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022403	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	212	cd03677	NULL
4594	67469281	Disease	p.Asn219Tyr	VAR_022403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022403	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	195	cd03680	NULL
4594	67469281	Disease	p.Asn219Tyr	VAR_022403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022403	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	189	cd03679	NULL
4594	67469281	Disease	p.Asn219Tyr	VAR_022403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022403	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	169	pfam01642	NULL
4594	67469281	Disease	p.Asn219Tyr	VAR_022403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022403	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	266	cd03678	NULL
4594	67469281	Disease	p.Asn219Tyr	VAR_022403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022403	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	242	COG1884	NULL
4594	67469281	Disease	p.Arg228Gln	VAR_004412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004412	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	157	cd00512	NULL
4594	67469281	Disease	p.Arg228Gln	VAR_004412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004412	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	125	cd03681	NULL
4594	67469281	Disease	p.Arg228Gln	VAR_004412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004412	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	221	cd03677	NULL
4594	67469281	Disease	p.Arg228Gln	VAR_004412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004412	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	204	cd03680	NULL
4594	67469281	Disease	p.Arg228Gln	VAR_004412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004412	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	198	cd03679	NULL
4594	67469281	Disease	p.Arg228Gln	VAR_004412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004412	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	178	pfam01642	NULL
4594	67469281	Disease	p.Arg228Gln	VAR_004412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004412	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	275	cd03678	NULL
4594	67469281	Disease	p.Arg228Gln	VAR_004412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004412	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	251	COG1884	NULL
4594	67469281	Disease	p.Thr230Ile	VAR_026603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026603	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	159	cd00512	NULL
4594	67469281	Disease	p.Thr230Ile	VAR_026603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026603	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	127	cd03681	NULL
4594	67469281	Disease	p.Thr230Ile	VAR_026603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026603	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	223	cd03677	NULL
4594	67469281	Disease	p.Thr230Ile	VAR_026603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026603	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	206	cd03680	NULL
4594	67469281	Disease	p.Thr230Ile	VAR_026603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026603	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	200	cd03679	NULL
4594	67469281	Disease	p.Thr230Ile	VAR_026603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026603	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	180	pfam01642	NULL
4594	67469281	Disease	p.Thr230Ile	VAR_026603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026603	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	277	cd03678	NULL
4594	67469281	Disease	p.Thr230Ile	VAR_026603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026603	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	253	COG1884	NULL
4594	67469281	Disease	p.Tyr231Asn	VAR_004413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004413	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	160	cd00512	NULL
4594	67469281	Disease	p.Tyr231Asn	VAR_004413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004413	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	128	cd03681	NULL
4594	67469281	Disease	p.Tyr231Asn	VAR_004413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004413	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	224	cd03677	NULL
4594	67469281	Disease	p.Tyr231Asn	VAR_004413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004413	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	207	cd03680	NULL
4594	67469281	Disease	p.Tyr231Asn	VAR_004413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004413	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	201	cd03679	NULL
4594	67469281	Disease	p.Tyr231Asn	VAR_004413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004413	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	181	pfam01642	NULL
4594	67469281	Disease	p.Tyr231Asn	VAR_004413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004413	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	278	cd03678	NULL
4594	67469281	Disease	p.Tyr231Asn	VAR_004413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004413	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	254	COG1884	NULL
4594	67469281	Disease	p.Ser262Asn	VAR_022404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022404	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	195	cd00512	NULL
4594	67469281	Disease	p.Ser262Asn	VAR_022404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022404	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	159	cd03681	NULL
4594	67469281	Disease	p.Ser262Asn	VAR_022404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022404	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	267	cd03677	NULL
4594	67469281	Disease	p.Ser262Asn	VAR_022404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022404	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	238	cd03680	NULL
4594	67469281	Disease	p.Ser262Asn	VAR_022404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022404	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	232	cd03679	NULL
4594	67469281	Disease	p.Ser262Asn	VAR_022404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022404	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	212	pfam01642	NULL
4594	67469281	Disease	p.Ser262Asn	VAR_022404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022404	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	310	cd03678	NULL
4594	67469281	Disease	p.Ser262Asn	VAR_022404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022404	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	286	COG1884	NULL
4594	67469281	Disease	p.His265Tyr	VAR_026604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026604	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	198	cd00512	NULL
4594	67469281	Disease	p.His265Tyr	VAR_026604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026604	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	162	cd03681	NULL
4594	67469281	Disease	p.His265Tyr	VAR_026604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026604	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	270	cd03677	NULL
4594	67469281	Disease	p.His265Tyr	VAR_026604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026604	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	241	cd03680	NULL
4594	67469281	Disease	p.His265Tyr	VAR_026604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026604	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	235	cd03679	NULL
4594	67469281	Disease	p.His265Tyr	VAR_026604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026604	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	215	pfam01642	NULL
4594	67469281	Disease	p.His265Tyr	VAR_026604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026604	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	313	cd03678	NULL
4594	67469281	Disease	p.His265Tyr	VAR_026604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026604	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	289	COG1884	NULL
4594	67469281	Disease	p.Leu281Ser	VAR_026605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026605	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	214	cd00512	NULL
4594	67469281	Disease	p.Leu281Ser	VAR_026605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026605	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	178	cd03681	NULL
4594	67469281	Disease	p.Leu281Ser	VAR_026605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026605	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	286	cd03677	NULL
4594	67469281	Disease	p.Leu281Ser	VAR_026605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026605	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	257	cd03680	NULL
4594	67469281	Disease	p.Leu281Ser	VAR_026605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026605	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	251	cd03679	NULL
4594	67469281	Disease	p.Leu281Ser	VAR_026605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026605	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	231	pfam01642	NULL
4594	67469281	Disease	p.Leu281Ser	VAR_026605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026605	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	329	cd03678	NULL
4594	67469281	Disease	p.Leu281Ser	VAR_026605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026605	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	305	COG1884	NULL
4594	67469281	Disease	p.Gly291Glu	VAR_026606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026606	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	224	cd00512	NULL
4594	67469281	Disease	p.Gly291Glu	VAR_026606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026606	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	192	cd03681	NULL
4594	67469281	Disease	p.Gly291Glu	VAR_026606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026606	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	296	cd03677	NULL
4594	67469281	Disease	p.Gly291Glu	VAR_026606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026606	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	268	cd03680	NULL
4594	67469281	Disease	p.Gly291Glu	VAR_026606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026606	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	261	cd03679	NULL
4594	67469281	Disease	p.Gly291Glu	VAR_026606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026606	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	241	pfam01642	NULL
4594	67469281	Disease	p.Gly291Glu	VAR_026606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026606	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	339	cd03678	NULL
4594	67469281	Disease	p.Gly291Glu	VAR_026606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026606	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	315	COG1884	NULL
4594	67469281	Disease	p.Gln293Pro	VAR_022405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022405	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	226	cd00512	NULL
4594	67469281	Disease	p.Gln293Pro	VAR_022405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022405	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	194	cd03681	NULL
4594	67469281	Disease	p.Gln293Pro	VAR_022405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022405	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	308	cd03677	NULL
4594	67469281	Disease	p.Gln293Pro	VAR_022405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022405	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	270	cd03680	NULL
4594	67469281	Disease	p.Gln293Pro	VAR_022405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022405	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	263	cd03679	NULL
4594	67469281	Disease	p.Gln293Pro	VAR_022405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022405	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	243	pfam01642	NULL
4594	67469281	Disease	p.Gln293Pro	VAR_022405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022405	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	341	cd03678	NULL
4594	67469281	Disease	p.Gln293Pro	VAR_022405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022405	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	317	COG1884	NULL
4594	67469281	Disease	p.Leu305Ser	VAR_026607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026607	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	242	cd00512	NULL
4594	67469281	Disease	p.Leu305Ser	VAR_026607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026607	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	206	cd03681	NULL
4594	67469281	Disease	p.Leu305Ser	VAR_026607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026607	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	321	cd03677	NULL
4594	67469281	Disease	p.Leu305Ser	VAR_026607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026607	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	282	cd03680	NULL
4594	67469281	Disease	p.Leu305Ser	VAR_026607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026607	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	275	cd03679	NULL
4594	67469281	Disease	p.Leu305Ser	VAR_026607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026607	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	255	pfam01642	NULL
4594	67469281	Disease	p.Leu305Ser	VAR_026607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026607	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	353	cd03678	NULL
4594	67469281	Disease	p.Leu305Ser	VAR_026607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026607	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	333	COG1884	NULL
4594	67469281	Disease	p.Ser306Phe	VAR_026608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026608	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	243	cd00512	NULL
4594	67469281	Disease	p.Ser306Phe	VAR_026608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026608	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	207	cd03681	NULL
4594	67469281	Disease	p.Ser306Phe	VAR_026608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026608	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	322	cd03677	NULL
4594	67469281	Disease	p.Ser306Phe	VAR_026608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026608	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	283	cd03680	NULL
4594	67469281	Disease	p.Ser306Phe	VAR_026608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026608	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	276	cd03679	NULL
4594	67469281	Disease	p.Ser306Phe	VAR_026608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026608	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	256	pfam01642	NULL
4594	67469281	Disease	p.Ser306Phe	VAR_026608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026608	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	354	cd03678	NULL
4594	67469281	Disease	p.Ser306Phe	VAR_026608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026608	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	334	COG1884	NULL
4594	67469281	Disease	p.Gly312Val	VAR_004414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004414	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	249	cd00512	NULL
4594	67469281	Disease	p.Gly312Val	VAR_004414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004414	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	213	cd03681	NULL
4594	67469281	Disease	p.Gly312Val	VAR_004414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004414	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	328	cd03677	NULL
4594	67469281	Disease	p.Gly312Val	VAR_004414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004414	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	289	cd03680	NULL
4594	67469281	Disease	p.Gly312Val	VAR_004414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004414	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	282	cd03679	NULL
4594	67469281	Disease	p.Gly312Val	VAR_004414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004414	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	262	pfam01642	NULL
4594	67469281	Disease	p.Gly312Val	VAR_004414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004414	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	360	cd03678	NULL
4594	67469281	Disease	p.Gly312Val	VAR_004414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004414	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	340	COG1884	NULL
4594	67469281	Disease	p.Tyr316Cys	VAR_026609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026609	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	253	cd00512	NULL
4594	67469281	Disease	p.Tyr316Cys	VAR_026609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026609	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	217	cd03681	NULL
4594	67469281	Disease	p.Tyr316Cys	VAR_026609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026609	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	332	cd03677	NULL
4594	67469281	Disease	p.Tyr316Cys	VAR_026609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026609	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	293	cd03680	NULL
4594	67469281	Disease	p.Tyr316Cys	VAR_026609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026609	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	286	cd03679	NULL
4594	67469281	Disease	p.Tyr316Cys	VAR_026609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026609	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	266	pfam01642	NULL
4594	67469281	Disease	p.Tyr316Cys	VAR_026609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026609	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	364	cd03678	NULL
4594	67469281	Disease	p.Tyr316Cys	VAR_026609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026609	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	344	COG1884	NULL
4594	67469281	Disease	p.Ala324Thr	VAR_023474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023474	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	261	cd00512	NULL
4594	67469281	Disease	p.Ala324Thr	VAR_023474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023474	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	225	cd03681	NULL
4594	67469281	Disease	p.Ala324Thr	VAR_023474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023474	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	340	cd03677	NULL
4594	67469281	Disease	p.Ala324Thr	VAR_023474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023474	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	301	cd03680	NULL
4594	67469281	Disease	p.Ala324Thr	VAR_023474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023474	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	294	cd03679	NULL
4594	67469281	Disease	p.Ala324Thr	VAR_023474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023474	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	274	pfam01642	NULL
4594	67469281	Disease	p.Ala324Thr	VAR_023474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023474	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	371	cd03678	NULL
4594	67469281	Disease	p.Ala324Thr	VAR_023474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023474	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	352	COG1884	NULL
4594	67469281	Disease	p.Leu328Phe	VAR_022406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022406	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	265	cd00512	NULL
4594	67469281	Disease	p.Leu328Phe	VAR_022406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022406	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	229	cd03681	NULL
4594	67469281	Disease	p.Leu328Phe	VAR_022406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022406	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	344	cd03677	NULL
4594	67469281	Disease	p.Leu328Phe	VAR_022406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022406	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	305	cd03680	NULL
4594	67469281	Disease	p.Leu328Phe	VAR_022406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022406	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	298	cd03679	NULL
4594	67469281	Disease	p.Leu328Phe	VAR_022406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022406	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	278	pfam01642	NULL
4594	67469281	Disease	p.Leu328Phe	VAR_022406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022406	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	375	cd03678	NULL
4594	67469281	Disease	p.Leu328Phe	VAR_022406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022406	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	356	COG1884	NULL
4594	67469281	Disease	p.Leu328Pro	VAR_023475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023475	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	265	cd00512	NULL
4594	67469281	Disease	p.Leu328Pro	VAR_023475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023475	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	229	cd03681	NULL
4594	67469281	Disease	p.Leu328Pro	VAR_023475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023475	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	344	cd03677	NULL
4594	67469281	Disease	p.Leu328Pro	VAR_023475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023475	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	305	cd03680	NULL
4594	67469281	Disease	p.Leu328Pro	VAR_023475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023475	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	298	cd03679	NULL
4594	67469281	Disease	p.Leu328Pro	VAR_023475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023475	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	278	pfam01642	NULL
4594	67469281	Disease	p.Leu328Pro	VAR_023475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023475	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	375	cd03678	NULL
4594	67469281	Disease	p.Leu328Pro	VAR_023475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023475	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	356	COG1884	NULL
4594	67469281	Disease	p.Leu347Arg	VAR_026610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026610	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	284	cd00512	NULL
4594	67469281	Disease	p.Leu347Arg	VAR_026610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026610	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	248	cd03681	NULL
4594	67469281	Disease	p.Leu347Arg	VAR_026610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026610	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	364	cd03677	NULL
4594	67469281	Disease	p.Leu347Arg	VAR_026610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026610	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	324	cd03680	NULL
4594	67469281	Disease	p.Leu347Arg	VAR_026610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026610	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	317	cd03679	NULL
4594	67469281	Disease	p.Leu347Arg	VAR_026610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026610	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	299	pfam01642	NULL
4594	67469281	Disease	p.Leu347Arg	VAR_026610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026610	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	393	cd03678	NULL
4594	67469281	Disease	p.Leu347Arg	VAR_026610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026610	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	375	COG1884	NULL
4594	67469281	Disease	p.His350Tyr	VAR_026611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026611	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	287	cd00512	NULL
4594	67469281	Disease	p.His350Tyr	VAR_026611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026611	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	251	cd03681	NULL
4594	67469281	Disease	p.His350Tyr	VAR_026611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026611	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	367	cd03677	NULL
4594	67469281	Disease	p.His350Tyr	VAR_026611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026611	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	327	cd03680	NULL
4594	67469281	Disease	p.His350Tyr	VAR_026611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026611	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	320	cd03679	NULL
4594	67469281	Disease	p.His350Tyr	VAR_026611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026611	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	302	pfam01642	NULL
4594	67469281	Disease	p.His350Tyr	VAR_026611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026611	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	396	cd03678	NULL
4594	67469281	Disease	p.His350Tyr	VAR_026611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026611	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	378	COG1884	NULL
4594	67469281	Disease	p.Val368Asp	VAR_004416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004416	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	305	cd00512	NULL
4594	67469281	Disease	p.Val368Asp	VAR_004416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004416	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	269	cd03681	NULL
4594	67469281	Disease	p.Val368Asp	VAR_004416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004416	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	385	cd03677	NULL
4594	67469281	Disease	p.Val368Asp	VAR_004416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004416	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	345	cd03680	NULL
4594	67469281	Disease	p.Val368Asp	VAR_004416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004416	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	338	cd03679	NULL
4594	67469281	Disease	p.Val368Asp	VAR_004416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004416	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	320	pfam01642	NULL
4594	67469281	Disease	p.Val368Asp	VAR_004416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004416	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	414	cd03678	NULL
4594	67469281	Disease	p.Val368Asp	VAR_004416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004416	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	396	COG1884	NULL
4594	67469281	Disease	p.Arg369Cys	VAR_026612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026612	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	306	cd00512	NULL
4594	67469281	Disease	p.Arg369Cys	VAR_026612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026612	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	270	cd03681	NULL
4594	67469281	Disease	p.Arg369Cys	VAR_026612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026612	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	386	cd03677	NULL
4594	67469281	Disease	p.Arg369Cys	VAR_026612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026612	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	346	cd03680	NULL
4594	67469281	Disease	p.Arg369Cys	VAR_026612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026612	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	339	cd03679	NULL
4594	67469281	Disease	p.Arg369Cys	VAR_026612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026612	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	321	pfam01642	NULL
4594	67469281	Disease	p.Arg369Cys	VAR_026612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026612	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	415	cd03678	NULL
4594	67469281	Disease	p.Arg369Cys	VAR_026612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026612	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	397	COG1884	NULL
4594	67469281	Disease	p.Arg369His	VAR_004417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004417	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	306	cd00512	NULL
4594	67469281	Disease	p.Arg369His	VAR_004417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004417	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	270	cd03681	NULL
4594	67469281	Disease	p.Arg369His	VAR_004417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004417	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	386	cd03677	NULL
4594	67469281	Disease	p.Arg369His	VAR_004417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004417	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	346	cd03680	NULL
4594	67469281	Disease	p.Arg369His	VAR_004417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004417	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	339	cd03679	NULL
4594	67469281	Disease	p.Arg369His	VAR_004417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004417	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	321	pfam01642	NULL
4594	67469281	Disease	p.Arg369His	VAR_004417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004417	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	415	cd03678	NULL
4594	67469281	Disease	p.Arg369His	VAR_004417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004417	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	397	COG1884	NULL
4594	67469281	Disease	p.Thr370Pro	VAR_026613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026613	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	307	cd00512	NULL
4594	67469281	Disease	p.Thr370Pro	VAR_026613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026613	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	271	cd03681	NULL
4594	67469281	Disease	p.Thr370Pro	VAR_026613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026613	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	387	cd03677	NULL
4594	67469281	Disease	p.Thr370Pro	VAR_026613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026613	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	347	cd03680	NULL
4594	67469281	Disease	p.Thr370Pro	VAR_026613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026613	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	340	cd03679	NULL
4594	67469281	Disease	p.Thr370Pro	VAR_026613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026613	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	322	pfam01642	NULL
4594	67469281	Disease	p.Thr370Pro	VAR_026613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026613	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	416	cd03678	NULL
4594	67469281	Disease	p.Thr370Pro	VAR_026613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026613	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	398	COG1884	NULL
4594	67469281	Disease	p.Ala377Glu	VAR_004418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004418	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	314	cd00512	NULL
4594	67469281	Disease	p.Ala377Glu	VAR_004418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004418	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	278	cd03681	NULL
4594	67469281	Disease	p.Ala377Glu	VAR_004418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004418	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	394	cd03677	NULL
4594	67469281	Disease	p.Ala377Glu	VAR_004418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004418	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	354	cd03680	NULL
4594	67469281	Disease	p.Ala377Glu	VAR_004418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004418	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	347	cd03679	NULL
4594	67469281	Disease	p.Ala377Glu	VAR_004418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004418	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	329	pfam01642	NULL
4594	67469281	Disease	p.Ala377Glu	VAR_004418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004418	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	423	cd03678	NULL
4594	67469281	Disease	p.Ala377Glu	VAR_004418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004418	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	405	COG1884	NULL
4594	67469281	Disease	p.Gln383His	VAR_026614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026614	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	323	cd00512	NULL
4594	67469281	Disease	p.Gln383His	VAR_026614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026614	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	287	cd03681	NULL
4594	67469281	Disease	p.Gln383His	VAR_026614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026614	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	400	cd03677	NULL
4594	67469281	Disease	p.Gln383His	VAR_026614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026614	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	360	cd03680	NULL
4594	67469281	Disease	p.Gln383His	VAR_026614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026614	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	353	cd03679	NULL
4594	67469281	Disease	p.Gln383His	VAR_026614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026614	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	335	pfam01642	NULL
4594	67469281	Disease	p.Gln383His	VAR_026614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026614	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	429	cd03678	NULL
4594	67469281	Disease	p.Gln383His	VAR_026614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026614	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	414	COG1884	NULL
4594	67469281	Disease	p.Gln383Pro	VAR_026615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026615	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	323	cd00512	NULL
4594	67469281	Disease	p.Gln383Pro	VAR_026615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026615	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	287	cd03681	NULL
4594	67469281	Disease	p.Gln383Pro	VAR_026615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026615	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	400	cd03677	NULL
4594	67469281	Disease	p.Gln383Pro	VAR_026615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026615	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	360	cd03680	NULL
4594	67469281	Disease	p.Gln383Pro	VAR_026615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026615	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	353	cd03679	NULL
4594	67469281	Disease	p.Gln383Pro	VAR_026615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026615	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	335	pfam01642	NULL
4594	67469281	Disease	p.Gln383Pro	VAR_026615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026615	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	429	cd03678	NULL
4594	67469281	Disease	p.Gln383Pro	VAR_026615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026615	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	414	COG1884	NULL
4594	67469281	Disease	p.His386Asn	VAR_026616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026616	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	326	cd00512	NULL
4594	67469281	Disease	p.His386Asn	VAR_026616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026616	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	290	cd03681	NULL
4594	67469281	Disease	p.His386Asn	VAR_026616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026616	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	403	cd03677	NULL
4594	67469281	Disease	p.His386Asn	VAR_026616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026616	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	363	cd03680	NULL
4594	67469281	Disease	p.His386Asn	VAR_026616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026616	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	356	cd03679	NULL
4594	67469281	Disease	p.His386Asn	VAR_026616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026616	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	338	pfam01642	NULL
4594	67469281	Disease	p.His386Asn	VAR_026616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026616	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	432	cd03678	NULL
4594	67469281	Disease	p.His386Asn	VAR_026616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026616	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	417	COG1884	NULL
4594	67469281	Disease	p.Asn388His	VAR_026617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026617	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	328	cd00512	NULL
4594	67469281	Disease	p.Asn388His	VAR_026617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026617	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	292	cd03681	NULL
4594	67469281	Disease	p.Asn388His	VAR_026617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026617	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	405	cd03677	NULL
4594	67469281	Disease	p.Asn388His	VAR_026617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026617	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	365	cd03680	NULL
4594	67469281	Disease	p.Asn388His	VAR_026617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026617	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	358	cd03679	NULL
4594	67469281	Disease	p.Asn388His	VAR_026617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026617	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	340	pfam01642	NULL
4594	67469281	Disease	p.Asn388His	VAR_026617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026617	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	434	cd03678	NULL
4594	67469281	Disease	p.Asn388His	VAR_026617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026617	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	419	COG1884	NULL
4594	67469281	Disease	p.Gly426Arg	VAR_026620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026620	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	367	cd00512	NULL
4594	67469281	Disease	p.Gly426Arg	VAR_026620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026620	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	330	cd03681	NULL
4594	67469281	Disease	p.Gly426Arg	VAR_026620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026620	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	449	cd03677	NULL
4594	67469281	Disease	p.Gly426Arg	VAR_026620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026620	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	403	cd03680	NULL
4594	67469281	Disease	p.Gly426Arg	VAR_026620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026620	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	396	cd03679	NULL
4594	67469281	Disease	p.Gly426Arg	VAR_026620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026620	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	383	pfam01642	NULL
4594	67469281	Disease	p.Gly426Arg	VAR_026620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026620	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	472	cd03678	NULL
4594	67469281	Disease	p.Gly426Arg	VAR_026620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026620	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	462	COG1884	NULL
4594	67469281	Disease	p.Gly427Asp	VAR_026621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026621	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	368	cd00512	NULL
4594	67469281	Disease	p.Gly427Asp	VAR_026621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026621	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	331	cd03681	NULL
4594	67469281	Disease	p.Gly427Asp	VAR_026621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026621	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	450	cd03677	NULL
4594	67469281	Disease	p.Gly427Asp	VAR_026621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026621	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	404	cd03680	NULL
4594	67469281	Disease	p.Gly427Asp	VAR_026621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026621	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	397	cd03679	NULL
4594	67469281	Disease	p.Gly427Asp	VAR_026621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026621	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	384	pfam01642	NULL
4594	67469281	Disease	p.Gly427Asp	VAR_026621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026621	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	473	cd03678	NULL
4594	67469281	Disease	p.Gly427Asp	VAR_026621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026621	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	463	COG1884	NULL
4594	67469281	Disease	p.Leu518Pro	VAR_026622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026622	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	514	cd03680	NULL
4594	67469281	Disease	p.Leu518Pro	VAR_026622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026622	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	489	cd03679	NULL
4594	67469281	Disease	p.Leu518Pro	VAR_026622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026622	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	495	pfam01642	NULL
4594	67469281	Disease	p.Leu518Pro	VAR_026622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026622	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	565	COG1884	NULL
4594	67469281	Disease	p.Ala535Pro	VAR_022408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022408	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	531	cd03680	NULL
4594	67469281	Disease	p.Ala535Pro	VAR_022408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022408	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	506	cd03679	NULL
4594	67469281	Disease	p.Ala535Pro	VAR_022408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022408	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	512	pfam01642	NULL
4594	67469281	Disease	p.Ala535Pro	VAR_022408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022408	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	582	COG1884	NULL
4594	67469281	Disease	p.Cys560Tyr	VAR_026623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026623	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	566	cd03680	NULL
4594	67469281	Disease	p.Cys560Tyr	VAR_026623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026623	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	539	cd03679	NULL
4594	67469281	Disease	p.Cys560Tyr	VAR_026623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026623	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	545	pfam01642	NULL
4594	67469281	Disease	p.Cys560Tyr	VAR_026623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026623	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	615	COG1884	NULL
4594	67469281	Disease	p.Thr566Arg	VAR_026624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026624	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	572	cd03680	NULL
4594	67469281	Disease	p.Thr566Arg	VAR_026624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026624	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	545	cd03679	NULL
4594	67469281	Disease	p.Thr566Arg	VAR_026624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026624	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	551	pfam01642	NULL
4594	67469281	Disease	p.Thr566Arg	VAR_026624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026624	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	621	COG1884	NULL
4594	67469281	Disease	p.Phe573Ser	VAR_026625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026625	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	579	cd03680	NULL
4594	67469281	Disease	p.Phe573Ser	VAR_026625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026625	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	552	cd03679	NULL
4594	67469281	Disease	p.Phe573Ser	VAR_026625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026625	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	558	pfam01642	NULL
4594	67469281	Disease	p.Phe573Ser	VAR_026625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026625	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	628	COG1884	NULL
4594	67469281	Disease	p.Tyr587Cys	VAR_022409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022409	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	No Domain	N/A	NULL
4594	67469281	Disease	p.Pro615Arg	VAR_026626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026626	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	21	COG2185	NULL
4594	67469281	Disease	p.Pro615Thr	VAR_022410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022410	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	21	COG2185	NULL
4594	67469281	Disease	p.Arg616Cys	VAR_023476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023476	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	2	pfam02310	NULL
4594	67469281	Disease	p.Arg616Cys	VAR_023476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023476	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	22	COG2185	NULL
4594	67469281	Disease	p.Leu617Arg	VAR_023477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023477	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	3	pfam02310	NULL
4594	67469281	Disease	p.Leu617Arg	VAR_023477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023477	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	23	COG2185	NULL
4594	67469281	Disease	p.Leu617Arg	VAR_023477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023477	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	2	cd02067	NULL
4594	67469281	Disease	p.Leu617Arg	VAR_023477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023477	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	2	cd02071	NULL
4594	67469281	Disease	p.Leu617Arg	VAR_023477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023477	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	2	cd02065	NULL
4594	67469281	Disease	p.Lys621Asn	VAR_022411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022411	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	9	pfam02310	NULL
4594	67469281	Disease	p.Lys621Asn	VAR_022411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022411	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	27	COG2185	NULL
4594	67469281	Disease	p.Lys621Asn	VAR_022411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022411	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	6	cd02067	NULL
4594	67469281	Disease	p.Lys621Asn	VAR_022411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022411	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	6	cd02071	NULL
4594	67469281	Disease	p.Lys621Asn	VAR_022411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022411	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	6	cd02065	NULL
4594	67469281	Disease	p.Gly623Arg	VAR_004420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004420	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	13	pfam02310	NULL
4594	67469281	Disease	p.Gly623Arg	VAR_004420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004420	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	29	COG2185	NULL
4594	67469281	Disease	p.Gly623Arg	VAR_004420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004420	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	8	cd02067	NULL
4594	67469281	Disease	p.Gly623Arg	VAR_004420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004420	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	8	cd02071	NULL
4594	67469281	Disease	p.Gly623Arg	VAR_004420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004420	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	8	cd02065	NULL
4594	67469281	Disease	p.Gln624Arg	VAR_022412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022412	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	14	pfam02310	NULL
4594	67469281	Disease	p.Gln624Arg	VAR_022412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022412	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	31	COG2185	NULL
4594	67469281	Disease	p.Gln624Arg	VAR_022412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022412	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	9	cd02067	NULL
4594	67469281	Disease	p.Gln624Arg	VAR_022412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022412	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	9	cd02071	NULL
4594	67469281	Disease	p.Gln624Arg	VAR_022412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022412	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	9	cd02065	NULL
4594	67469281	Disease	p.Gly626Cys	VAR_004421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004421	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	16	pfam02310	NULL
4594	67469281	Disease	p.Gly626Cys	VAR_004421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004421	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	33	COG2185	NULL
4594	67469281	Disease	p.Gly626Cys	VAR_004421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004421	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	11	cd02067	NULL
4594	67469281	Disease	p.Gly626Cys	VAR_004421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004421	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	11	cd02071	NULL
4594	67469281	Disease	p.Gly626Cys	VAR_004421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004421	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	11	cd02065	NULL
4594	67469281	Disease	p.His627Arg	VAR_022413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022413	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	17	pfam02310	NULL
4594	67469281	Disease	p.His627Arg	VAR_022413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022413	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	34	COG2185	NULL
4594	67469281	Disease	p.His627Arg	VAR_022413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022413	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	12	cd02067	NULL
4594	67469281	Disease	p.His627Arg	VAR_022413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022413	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	12	cd02071	NULL
4594	67469281	Disease	p.His627Arg	VAR_022413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022413	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	12	cd02065	NULL
4594	67469281	Disease	p.Gly630Glu	VAR_004422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004422	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	20	pfam02310	NULL
4594	67469281	Disease	p.Gly630Glu	VAR_004422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004422	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	37	COG2185	NULL
4594	67469281	Disease	p.Gly630Glu	VAR_004422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004422	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	15	cd02067	NULL
4594	67469281	Disease	p.Gly630Glu	VAR_004422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004422	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	15	cd02071	NULL
4594	67469281	Disease	p.Gly630Glu	VAR_004422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004422	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	15	cd02065	NULL
4594	67469281	Disease	p.Val633Gly	VAR_004423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004423	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	24	pfam02310	NULL
4594	67469281	Disease	p.Val633Gly	VAR_004423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004423	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	40	COG2185	NULL
4594	67469281	Disease	p.Val633Gly	VAR_004423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004423	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	18	cd02067	NULL
4594	67469281	Disease	p.Val633Gly	VAR_004423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004423	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	18	cd02071	NULL
4594	67469281	Disease	p.Val633Gly	VAR_004423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004423	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	18	cd02065	NULL
4594	67469281	Disease	p.Gly637Glu	VAR_022414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022414	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	28	pfam02310	NULL
4594	67469281	Disease	p.Gly637Glu	VAR_022414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022414	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	44	COG2185	NULL
4594	67469281	Disease	p.Gly637Glu	VAR_022414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022414	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	22	cd02067	NULL
4594	67469281	Disease	p.Gly637Glu	VAR_022414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022414	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	22	cd02071	NULL
4594	67469281	Disease	p.Gly637Glu	VAR_022414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022414	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	22	cd02065	NULL
4594	67469281	Disease	p.Gly637Arg	VAR_026627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026627	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	28	pfam02310	NULL
4594	67469281	Disease	p.Gly637Arg	VAR_026627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026627	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	44	COG2185	NULL
4594	67469281	Disease	p.Gly637Arg	VAR_026627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026627	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	22	cd02067	NULL
4594	67469281	Disease	p.Gly637Arg	VAR_026627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026627	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	22	cd02071	NULL
4594	67469281	Disease	p.Gly637Arg	VAR_026627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026627	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	22	cd02065	NULL
4594	67469281	Disease	p.Phe638Ile	VAR_022415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022415	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	29	pfam02310	NULL
4594	67469281	Disease	p.Phe638Ile	VAR_022415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022415	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	45	COG2185	NULL
4594	67469281	Disease	p.Phe638Ile	VAR_022415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022415	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	23	cd02067	NULL
4594	67469281	Disease	p.Phe638Ile	VAR_022415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022415	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	23	cd02071	NULL
4594	67469281	Disease	p.Phe638Ile	VAR_022415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022415	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	60	cd02065	NULL
4594	67469281	Disease	p.Asp640Tyr	VAR_022416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022416	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	31	pfam02310	NULL
4594	67469281	Disease	p.Asp640Tyr	VAR_022416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022416	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	47	COG2185	NULL
4594	67469281	Disease	p.Asp640Tyr	VAR_022416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022416	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	25	cd02067	NULL
4594	67469281	Disease	p.Asp640Tyr	VAR_022416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022416	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	25	cd02071	NULL
4594	67469281	Disease	p.Asp640Tyr	VAR_022416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022416	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	62	cd02065	NULL
4594	67469281	Disease	p.Gly642Arg	VAR_022417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022417	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	35	pfam02310	NULL
4594	67469281	Disease	p.Gly642Arg	VAR_022417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022417	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	49	COG2185	NULL
4594	67469281	Disease	p.Gly642Arg	VAR_022417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022417	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	27	cd02067	NULL
4594	67469281	Disease	p.Gly642Arg	VAR_022417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022417	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	27	cd02071	NULL
4594	67469281	Disease	p.Gly642Arg	VAR_022417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022417	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	64	cd02065	NULL
4594	67469281	Disease	p.Gly648Asp	VAR_004424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004424	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	55	pfam02310	NULL
4594	67469281	Disease	p.Gly648Asp	VAR_004424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004424	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	55	COG2185	NULL
4594	67469281	Disease	p.Gly648Asp	VAR_004424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004424	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	42	cd02067	NULL
4594	67469281	Disease	p.Gly648Asp	VAR_004424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004424	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	33	cd02071	NULL
4594	67469281	Disease	p.Gly648Asp	VAR_004424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004424	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	70	cd02065	NULL
4594	67469281	Disease	p.Val669Glu	VAR_004425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004425	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	153	pfam02310	NULL
4594	67469281	Disease	p.Val669Glu	VAR_004425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004425	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	80	COG2185	NULL
4594	67469281	Disease	p.Val669Glu	VAR_004425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004425	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	65	cd02067	NULL
4594	67469281	Disease	p.Val669Glu	VAR_004425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004425	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	54	cd02071	NULL
4594	67469281	Disease	p.Val669Glu	VAR_004425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004425	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	101	cd02065	NULL
4594	67469281	Disease	p.His678Arg	VAR_004427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004427	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	173	pfam02310	NULL
4594	67469281	Disease	p.His678Arg	VAR_004427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004427	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	89	COG2185	NULL
4594	67469281	Disease	p.His678Arg	VAR_004427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004427	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	74	cd02067	NULL
4594	67469281	Disease	p.His678Arg	VAR_004427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004427	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	63	cd02071	NULL
4594	67469281	Disease	p.His678Arg	VAR_004427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004427	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	110	cd02065	NULL
4594	67469281	Disease	p.Leu685Arg	VAR_004429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004429	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	184	pfam02310	NULL
4594	67469281	Disease	p.Leu685Arg	VAR_004429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004429	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	96	COG2185	NULL
4594	67469281	Disease	p.Leu685Arg	VAR_004429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004429	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	81	cd02067	NULL
4594	67469281	Disease	p.Leu685Arg	VAR_004429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004429	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	70	cd02071	NULL
4594	67469281	Disease	p.Leu685Arg	VAR_004429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004429	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	120	cd02065	NULL
4594	67469281	Disease	p.Arg694Trp	VAR_004430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004430	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	205	pfam02310	NULL
4594	67469281	Disease	p.Arg694Trp	VAR_004430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004430	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	105	COG2185	NULL
4594	67469281	Disease	p.Arg694Trp	VAR_004430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004430	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	90	cd02067	NULL
4594	67469281	Disease	p.Arg694Trp	VAR_004430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004430	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	79	cd02071	NULL
4594	67469281	Disease	p.Arg694Trp	VAR_004430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004430	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	129	cd02065	NULL
4594	67469281	Disease	p.Met700Lys	VAR_022418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022418	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	212	pfam02310	NULL
4594	67469281	Disease	p.Met700Lys	VAR_022418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022418	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	114	COG2185	NULL
4594	67469281	Disease	p.Met700Lys	VAR_022418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022418	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	100	cd02067	NULL
4594	67469281	Disease	p.Met700Lys	VAR_022418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022418	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	88	cd02071	NULL
4594	67469281	Disease	p.Met700Lys	VAR_022418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022418	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	139	cd02065	NULL
4594	67469281	Disease	p.Gly703Arg	VAR_004431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004431	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	215	pfam02310	NULL
4594	67469281	Disease	p.Gly703Arg	VAR_004431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004431	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	117	COG2185	NULL
4594	67469281	Disease	p.Gly703Arg	VAR_004431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004431	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	103	cd02067	NULL
4594	67469281	Disease	p.Gly703Arg	VAR_004431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004431	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	91	cd02071	NULL
4594	67469281	Disease	p.Gly703Arg	VAR_004431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004431	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	142	cd02065	NULL
4594	67469281	Disease	p.Gly717Val	VAR_004432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004432	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	238	pfam02310	NULL
4594	67469281	Disease	p.Gly717Val	VAR_004432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004432	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	137	COG2185	NULL
4594	67469281	Disease	p.Gly717Val	VAR_004432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004432	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	128	cd02067	NULL
4594	67469281	Disease	p.Gly717Val	VAR_004432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004432	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	119	cd02071	NULL
4594	67469281	Disease	p.Gly717Val	VAR_004432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004432	- Methylmalonic aciduria type mut (MMAM) [MIM:251000]	SWISS	167	cd02065	NULL
4595	48428272	Disease	p.Tyr125His	VAR_026045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026045	- Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	61	COG1194	6912520,NP_036354
4595	48428272	Disease	p.Tyr125His	VAR_026045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026045	- Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	54	COG0177	6912520,NP_036354
4595	48428272	Disease	p.Trp128Arg	VAR_026046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026046	- Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	64	COG1194	6912520,NP_036354
4595	48428272	Disease	p.Trp128Arg	VAR_026046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026046	- Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	57	COG0177	6912520,NP_036354
4595	48428272	Disease	p.Trp128Arg	VAR_026046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026046	- Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	4	cd00056	6912520,NP_036354
4595	48428272	Disease	p.Tyr176Cys	VAR_018873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018873	rs34612342 Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	116	COG1194	6912520,NP_036354
4595	48428272	Disease	p.Tyr176Cys	VAR_018873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018873	rs34612342 Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	80	pfam00730	6912520,NP_036354
4595	48428272	Disease	p.Tyr176Cys	VAR_018873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018873	rs34612342 Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	120	COG0177	6912520,NP_036354
4595	48428272	Disease	p.Tyr176Cys	VAR_018873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018873	rs34612342 Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	86	cd00056	6912520,NP_036354
4595	48428272	Disease	p.Tyr176Cys	VAR_018873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018873	rs34612342 Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	116	smart00478	6912520,NP_036354
4595	48428272	Disease	p.Arg179His	VAR_026047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026047	- Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	119	COG1194	6912520,NP_036354
4595	48428272	Disease	p.Arg179His	VAR_026047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026047	- Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	84	pfam00730	6912520,NP_036354
4595	48428272	Disease	p.Arg179His	VAR_026047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026047	- Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	124	COG0177	6912520,NP_036354
4595	48428272	Disease	p.Arg179His	VAR_026047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026047	- Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	89	cd00056	6912520,NP_036354
4595	48428272	Disease	p.Arg179His	VAR_026047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026047	- Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	119	smart00478	6912520,NP_036354
4595	48428272	Disease	p.Arg238Trp	VAR_026048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026048	rs34126013 Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	178	COG1194	6912520,NP_036354
4595	48428272	Disease	p.Arg238Trp	VAR_026048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026048	rs34126013 Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	182	pfam00730	6912520,NP_036354
4595	48428272	Disease	p.Arg238Trp	VAR_026048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026048	rs34126013 Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	199	COG0177	6912520,NP_036354
4595	48428272	Disease	p.Arg238Trp	VAR_026048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026048	rs34126013 Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	179	cd00056	6912520,NP_036354
4595	48428272	Disease	p.Arg238Trp	VAR_026048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026048	rs34126013 Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	263	smart00478	6912520,NP_036354
4595	48428272	Disease	p.Gly393Asp	VAR_018875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018875	rs36053993 Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	39	cd03431	6912520,NP_036354
4595	48428272	Disease	p.Gly393Asp	VAR_018875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018875	rs36053993 Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	338	COG1194	6912520,NP_036354
4595	48428272	Disease	p.Gly393Asp	VAR_018875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018875	rs36053993 Colorectal adenomatous polyposis autosomal recessive (CAPAR) [MIM:608456]	SWISS	43	pfam00293	6912520,NP_036354
4598	417215	Disease	p.His20Asn	VAR_010956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010956	rs11544299 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	15	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.His20Asn	VAR_010956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010956	rs11544299 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	40	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.His20Pro	VAR_004022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004022	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	15	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.His20Pro	VAR_004022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004022	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	40	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.His20Pro	VAR_004022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004022	- Mevalonic aciduria [MIM:610377]	SWISS	15	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.His20Pro	VAR_004022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004022	- Mevalonic aciduria [MIM:610377]	SWISS	40	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.His20Gln	VAR_029519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029519	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	15	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.His20Gln	VAR_029519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029519	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	40	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Leu39Pro	VAR_010957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010957	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	35	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Leu39Pro	VAR_010957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010957	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	59	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Val132Ile	VAR_029520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029520	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	132	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Val132Ile	VAR_029520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029520	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	3	pfam00288	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Val132Ile	VAR_029520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029520	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	144	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ser135Leu	VAR_010959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010959	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	135	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ser135Leu	VAR_010959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010959	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	7	pfam00288	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ser135Leu	VAR_010959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010959	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	147	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ala148Thr	VAR_010960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010960	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	152	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ala148Thr	VAR_010960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010960	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	25	pfam00288	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ala148Thr	VAR_010960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010960	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	160	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ser150Leu	VAR_010961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010961	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	154	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ser150Leu	VAR_010961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010961	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	27	pfam00288	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ser150Leu	VAR_010961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010961	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	162	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Pro167Leu	VAR_004023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004023	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	171	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Pro167Leu	VAR_004023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004023	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	59	pfam00288	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Pro167Leu	VAR_004023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004023	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	170_G	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Gly171Arg	VAR_029521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029521	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	175	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Gly171Arg	VAR_029521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029521	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	63	pfam00288	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Gly171Arg	VAR_029521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029521	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	170_G	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Gly202Arg	VAR_010962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010962	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	202	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Gly202Arg	VAR_010962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010962	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	116	pfam00288	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Gly202Arg	VAR_010962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010962	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	202	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Gly211Glu	VAR_029522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029522	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	211	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Gly211Glu	VAR_029522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029522	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	129	pfam00288	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Gly211Glu	VAR_029522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029522	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	212	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Arg215Gln	VAR_010963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010963	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	215	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Arg215Gln	VAR_010963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010963	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	219	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Thr243Ile	VAR_010964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010964	- Mevalonic aciduria [MIM:610377]	SWISS	268	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Thr243Ile	VAR_010964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010964	- Mevalonic aciduria [MIM:610377]	SWISS	254	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Val250Ile	VAR_029523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029523	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	288	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Val250Ile	VAR_029523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029523	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	261	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Leu264Phe	VAR_010965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010965	- Mevalonic aciduria [MIM:610377]	SWISS	302	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Leu264Phe	VAR_010965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010965	- Mevalonic aciduria [MIM:610377]	SWISS	275	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Leu265Pro	VAR_010966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010966	- Mevalonic aciduria [MIM:610377]	SWISS	303	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Leu265Pro	VAR_010966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010966	- Mevalonic aciduria [MIM:610377]	SWISS	276	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Leu265Arg	VAR_029524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029524	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	303	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Leu265Arg	VAR_029524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029524	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	276	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ile268Thr	VAR_004024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004024	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	306	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ile268Thr	VAR_004024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004024	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	282	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ile268Thr	VAR_004024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004024	- Mevalonic aciduria [MIM:610377]	SWISS	306	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ile268Thr	VAR_004024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004024	- Mevalonic aciduria [MIM:610377]	SWISS	282	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Asn301Thr	VAR_004025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004025	rs28934896 Mevalonic aciduria [MIM:610377]	SWISS	348	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Asn301Thr	VAR_004025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004025	rs28934896 Mevalonic aciduria [MIM:610377]	SWISS	409	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Gly309Ser	VAR_010967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010967	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	356	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Gly309Ser	VAR_010967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010967	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	418	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Val310Met	VAR_009068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009068	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	360	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Val310Met	VAR_009068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009068	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	423	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Val310Met	VAR_009068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009068	- Mevalonic aciduria [MIM:610377]	SWISS	360	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Val310Met	VAR_009068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009068	- Mevalonic aciduria [MIM:610377]	SWISS	423	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Gly326Arg	VAR_010968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010968	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	376	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Gly326Arg	VAR_010968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010968	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	451	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ala334Thr	VAR_004026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004026	- Mevalonic aciduria [MIM:610377]	SWISS	385	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Ala334Thr	VAR_004026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004026	- Mevalonic aciduria [MIM:610377]	SWISS	465	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Gly376Val	VAR_029527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029527	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	440	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Gly376Val	VAR_029527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029527	- Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	522	COG0153	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Val377Ile	VAR_004027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004027	rs28934897 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	441	COG1577	167001643,NP_001107657|4557769,NP_000422
4598	417215	Disease	p.Val377Ile	VAR_004027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004027	rs28934897 Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]	SWISS	523	COG0153	167001643,NP_001107657|4557769,NP_000422
4607	116242668	Disease	p.Gly5Arg	VAR_029390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029390	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	No Domain	N/A	NULL
4607	116242668	Disease	p.Thr59Ala	VAR_029391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029391	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	67	pfam07679	NULL
4607	116242668	Disease	p.Pro161Ser	VAR_029392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029392	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	7	pfam07679	NULL
4607	116242668	Disease	p.Val219Leu	VAR_029393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029393	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	170	smart00409	NULL
4607	116242668	Disease	p.Val219Leu	VAR_029393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029393	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	170	smart00410	NULL
4607	116242668	Disease	p.Val219Leu	VAR_029393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029393	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	75	pfam07679	NULL
4607	116242668	Disease	p.Asp228Asn	VAR_029394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029394	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	181	smart00409	NULL
4607	116242668	Disease	p.Asp228Asn	VAR_029394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029394	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	181	smart00410	NULL
4607	116242668	Disease	p.Asp228Asn	VAR_029394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029394	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	84	pfam07679	NULL
4607	116242668	Disease	p.Tyr237Ser	VAR_029395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029395	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	198	smart00409	NULL
4607	116242668	Disease	p.Tyr237Ser	VAR_029395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029395	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	198	smart00410	NULL
4607	116242668	Disease	p.Tyr237Ser	VAR_029395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029395	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	93	pfam07679	NULL
4607	116242668	Disease	p.Val256Ile	VAR_029396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029396	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	250	smart00409	NULL
4607	116242668	Disease	p.Val256Ile	VAR_029396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029396	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	250	smart00410	NULL
4607	116242668	Disease	p.His257Pro	VAR_019889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019889	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	No Domain	N/A	NULL
4607	116242668	Disease	p.Glu258Lys	VAR_019890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019890	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	No Domain	N/A	NULL
4607	116242668	Disease	p.Gly263Arg	VAR_042740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042740	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	No Domain	N/A	NULL
4607	116242668	Disease	p.Arg273His	VAR_042741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042741	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	No Domain	N/A	NULL
4607	116242668	Disease	p.Gly278Glu	VAR_019891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019891	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	No Domain	N/A	NULL
4607	116242668	Disease	p.Gly279Ala	VAR_019892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019892	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	No Domain	N/A	NULL
4607	116242668	Disease	p.Arg282Trp	VAR_029397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029397	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	No Domain	N/A	NULL
4607	116242668	Disease	p.Leu352Pro	VAR_019894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019894	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	No Domain	N/A	NULL
4607	116242668	Disease	p.Ala416Ser	VAR_042742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042742	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	155	smart00409	NULL
4607	116242668	Disease	p.Ala416Ser	VAR_042742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042742	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	155	smart00410	NULL
4607	116242668	Disease	p.Ala416Ser	VAR_042742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042742	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	70	pfam07679	NULL
4607	116242668	Disease	p.Glu450Gln	VAR_027879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027879	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	No Domain	N/A	NULL
4607	116242668	Disease	p.Arg457His	VAR_029399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029399	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	6	pfam07679	NULL
4607	116242668	Disease	p.Gly489Arg	VAR_029400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029400	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	50	smart00408	NULL
4607	116242668	Disease	p.Gly489Arg	VAR_029400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029400	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	42	pfam07679	NULL
4607	116242668	Disease	p.Gly489Arg	VAR_029400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029400	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	79	smart00409	NULL
4607	116242668	Disease	p.Gly489Arg	VAR_029400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029400	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	79	smart00410	NULL
4607	116242668	Disease	p.Arg494Gly	VAR_045929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045929	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	61	smart00408	NULL
4607	116242668	Disease	p.Arg494Gly	VAR_045929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045929	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	47	pfam07679	NULL
4607	116242668	Disease	p.Arg494Gly	VAR_045929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045929	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	116	smart00409	NULL
4607	116242668	Disease	p.Arg494Gly	VAR_045929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045929	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	116	smart00410	NULL
4607	116242668	Disease	p.Arg494Gln	VAR_027880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027880	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	61	smart00408	NULL
4607	116242668	Disease	p.Arg494Gln	VAR_027880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027880	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	47	pfam07679	NULL
4607	116242668	Disease	p.Arg494Gln	VAR_027880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027880	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	116	smart00409	NULL
4607	116242668	Disease	p.Arg494Gln	VAR_027880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027880	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	116	smart00410	NULL
4607	116242668	Disease	p.Arg501Gln	VAR_027881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027881	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	86	smart00408	NULL
4607	116242668	Disease	p.Arg501Gln	VAR_027881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027881	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	66	pfam07679	NULL
4607	116242668	Disease	p.Arg501Gln	VAR_027881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027881	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	151	smart00409	NULL
4607	116242668	Disease	p.Arg501Gln	VAR_027881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027881	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	151	smart00410	NULL
4607	116242668	Disease	p.Arg501Trp	VAR_019895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019895	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	86	smart00408	NULL
4607	116242668	Disease	p.Arg501Trp	VAR_019895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019895	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	66	pfam07679	NULL
4607	116242668	Disease	p.Arg501Trp	VAR_019895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019895	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	151	smart00409	NULL
4607	116242668	Disease	p.Arg501Trp	VAR_019895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019895	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	151	smart00410	NULL
4607	116242668	Disease	p.Gly506Arg	VAR_029401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029401	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	98	smart00408	NULL
4607	116242668	Disease	p.Gly506Arg	VAR_029401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029401	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	71	pfam07679	NULL
4607	116242668	Disease	p.Gly506Arg	VAR_029401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029401	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	156	smart00409	NULL
4607	116242668	Disease	p.Gly506Arg	VAR_029401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029401	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	156	smart00410	NULL
4607	116242668	Disease	p.Gly522Trp	VAR_029402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029402	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	116	smart00408	NULL
4607	116242668	Disease	p.Gly522Trp	VAR_029402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029402	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	91	pfam07679	NULL
4607	116242668	Disease	p.Gly522Trp	VAR_029402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029402	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	196	smart00409	NULL
4607	116242668	Disease	p.Gly522Trp	VAR_029402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029402	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	196	smart00410	NULL
4607	116242668	Disease	p.Glu541Gln	VAR_003917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003917	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	243	smart00409	NULL
4607	116242668	Disease	p.Glu541Gln	VAR_003917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003917	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	243	smart00410	NULL
4607	116242668	Disease	p.Cys565Arg	VAR_029404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029404	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	23	pfam07679	NULL
4607	116242668	Disease	p.Cys565Arg	VAR_029404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029404	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	18	smart00409	NULL
4607	116242668	Disease	p.Cys565Arg	VAR_029404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029404	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	18	smart00410	NULL
4607	116242668	Disease	p.Asp603Val	VAR_029405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029405	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	83	pfam07679	NULL
4607	116242668	Disease	p.Asp603Val	VAR_029405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029405	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	180	smart00409	NULL
4607	116242668	Disease	p.Asp603Val	VAR_029405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029405	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	180	smart00410	NULL
4607	116242668	Disease	p.Asp604Asn	VAR_029406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029406	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	84	pfam07679	NULL
4607	116242668	Disease	p.Asp604Asn	VAR_029406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029406	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	181	smart00409	NULL
4607	116242668	Disease	p.Asp604Asn	VAR_029406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029406	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	181	smart00410	NULL
4607	116242668	Disease	p.Pro607Leu	VAR_029407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029407	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	87	pfam07679	NULL
4607	116242668	Disease	p.Pro607Leu	VAR_029407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029407	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	184	smart00409	NULL
4607	116242668	Disease	p.Pro607Leu	VAR_029407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029407	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	184	smart00410	NULL
4607	116242668	Disease	p.Arg653His	VAR_003918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003918	rs1800565 Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	5	pfam07679	NULL
4607	116242668	Disease	p.Arg653His	VAR_003918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003918	rs1800565 Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	6	cd05891	NULL
4607	116242668	Disease	p.Arg653His	VAR_003918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003918	rs1800565 Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	2	cd05737	NULL
4607	116242668	Disease	p.Arg667His	VAR_029408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029408	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	14	cd05894	NULL
4607	116242668	Disease	p.Arg667His	VAR_029408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029408	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	15	smart00409	NULL
4607	116242668	Disease	p.Arg667His	VAR_029408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029408	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	15	smart00410	NULL
4607	116242668	Disease	p.Arg667His	VAR_029408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029408	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	3	cd05748	NULL
4607	116242668	Disease	p.Arg667His	VAR_029408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029408	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	20	pfam07679	NULL
4607	116242668	Disease	p.Arg667His	VAR_029408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029408	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	20	cd05891	NULL
4607	116242668	Disease	p.Arg667His	VAR_029408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029408	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	20	cd05737	NULL
4607	116242668	Disease	p.Arg667His	VAR_029408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029408	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	2	cd00096	NULL
4607	116242668	Disease	p.Arg667Pro	VAR_029409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029409	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	14	cd05894	NULL
4607	116242668	Disease	p.Arg667Pro	VAR_029409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029409	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	15	smart00409	NULL
4607	116242668	Disease	p.Arg667Pro	VAR_029409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029409	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	15	smart00410	NULL
4607	116242668	Disease	p.Arg667Pro	VAR_029409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029409	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	3	cd05748	NULL
4607	116242668	Disease	p.Arg667Pro	VAR_029409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029409	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	20	pfam07679	NULL
4607	116242668	Disease	p.Arg667Pro	VAR_029409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029409	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	20	cd05891	NULL
4607	116242668	Disease	p.Arg667Pro	VAR_029409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029409	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	20	cd05737	NULL
4607	116242668	Disease	p.Arg667Pro	VAR_029409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029409	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	2	cd00096	NULL
4607	116242668	Disease	p.Leu668His	VAR_042743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042743	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	15	cd05894	NULL
4607	116242668	Disease	p.Leu668His	VAR_042743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042743	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	16	smart00409	NULL
4607	116242668	Disease	p.Leu668His	VAR_042743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042743	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	16	smart00410	NULL
4607	116242668	Disease	p.Leu668His	VAR_042743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042743	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	4	cd05748	NULL
4607	116242668	Disease	p.Leu668His	VAR_042743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042743	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	21	pfam07679	NULL
4607	116242668	Disease	p.Leu668His	VAR_042743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042743	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	21	cd05891	NULL
4607	116242668	Disease	p.Leu668His	VAR_042743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042743	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	21	cd05737	NULL
4607	116242668	Disease	p.Leu668His	VAR_042743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042743	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	3	cd00096	NULL
4607	116242668	Disease	p.Arg732Cys	VAR_029410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029410	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	79	cd05894	NULL
4607	116242668	Disease	p.Arg732Cys	VAR_029410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029410	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	172	smart00409	NULL
4607	116242668	Disease	p.Arg732Cys	VAR_029410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029410	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	172	smart00410	NULL
4607	116242668	Disease	p.Arg732Cys	VAR_029410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029410	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	68	cd05748	NULL
4607	116242668	Disease	p.Arg732Cys	VAR_029410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029410	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	71	pfam07679	NULL
4607	116242668	Disease	p.Arg732Cys	VAR_029410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029410	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	58	cd05891	NULL
4607	116242668	Disease	p.Arg732Cys	VAR_029410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029410	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	58	cd05737	NULL
4607	116242668	Disease	p.Arg732Cys	VAR_029410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029410	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	91	cd00096	NULL
4607	116242668	Disease	p.Asn754Lys	VAR_003919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003919	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	101	cd05894	NULL
4607	116242668	Disease	p.Asn754Lys	VAR_003919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003919	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	219	smart00409	NULL
4607	116242668	Disease	p.Asn754Lys	VAR_003919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003919	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	219	smart00410	NULL
4607	116242668	Disease	p.Asn754Lys	VAR_003919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003919	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	91	cd05748	NULL
4607	116242668	Disease	p.Asn754Lys	VAR_003919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003919	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	99	pfam07679	NULL
4607	116242668	Disease	p.Asn754Lys	VAR_003919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003919	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	79	cd05891	NULL
4607	116242668	Disease	p.Asn754Lys	VAR_003919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003919	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	79	cd05737	NULL
4607	116242668	Disease	p.Asn754Lys	VAR_003919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003919	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	129	cd00096	NULL
4607	116242668	Disease	p.Glu758Asp	VAR_042744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042744	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	105	cd05894	NULL
4607	116242668	Disease	p.Glu758Asp	VAR_042744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042744	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	230	smart00409	NULL
4607	116242668	Disease	p.Glu758Asp	VAR_042744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042744	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	230	smart00410	NULL
4607	116242668	Disease	p.Glu758Asp	VAR_042744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042744	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	97	cd05748	NULL
4607	116242668	Disease	p.Glu758Asp	VAR_042744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042744	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	104	pfam07679	NULL
4607	116242668	Disease	p.Glu758Asp	VAR_042744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042744	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	83	cd05891	NULL
4607	116242668	Disease	p.Glu758Asp	VAR_042744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042744	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	83	cd05737	NULL
4607	116242668	Disease	p.Glu758Asp	VAR_042744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042744	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	166	cd00096	NULL
4607	116242668	Disease	p.Asp769Asn	VAR_029411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029411	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	No Domain	N/A	NULL
4607	116242668	Disease	p.Trp791Arg	VAR_029412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029412	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	43	cd00063	NULL
4607	116242668	Disease	p.Trp791Arg	VAR_029412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029412	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	30	smart00060	NULL
4607	116242668	Disease	p.Trp791Arg	VAR_029412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029412	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	24	pfam00041	NULL
4607	116242668	Disease	p.Arg809His	VAR_029413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029413	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	66	cd00063	NULL
4607	116242668	Disease	p.Arg809His	VAR_029413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029413	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	70	smart00060	NULL
4607	116242668	Disease	p.Arg809His	VAR_029413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029413	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	43	pfam00041	NULL
4607	116242668	Disease	p.Lys810Arg	VAR_019897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019897	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	67	cd00063	NULL
4607	116242668	Disease	p.Lys810Arg	VAR_019897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019897	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	71	smart00060	NULL
4607	116242668	Disease	p.Lys810Arg	VAR_019897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019897	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	47	pfam00041	NULL
4607	116242668	Disease	p.Arg819Gln	VAR_029416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029416	rs2856655 Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	97	cd00063	NULL
4607	116242668	Disease	p.Arg819Gln	VAR_029416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029416	rs2856655 Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	116	smart00060	NULL
4607	116242668	Disease	p.Arg819Gln	VAR_029416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029416	rs2856655 Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	67	pfam00041	NULL
4607	116242668	Disease	p.Ala832Thr	VAR_029417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029417	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	139	cd00063	NULL
4607	116242668	Disease	p.Ala832Thr	VAR_029417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029417	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	160	smart00060	NULL
4607	116242668	Disease	p.Ala832Thr	VAR_029417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029417	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	88	pfam00041	NULL
4607	116242668	Disease	p.Ala832Val	VAR_019898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019898	rs3729952 Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	139	cd00063	NULL
4607	116242668	Disease	p.Ala832Val	VAR_019898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019898	rs3729952 Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	160	smart00060	NULL
4607	116242668	Disease	p.Ala832Val	VAR_019898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019898	rs3729952 Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	88	pfam00041	NULL
4607	116242668	Disease	p.Arg833Thr	VAR_029418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029418	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	140	cd00063	NULL
4607	116242668	Disease	p.Arg833Thr	VAR_029418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029418	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	161	smart00060	NULL
4607	116242668	Disease	p.Arg833Thr	VAR_029418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029418	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	89	pfam00041	NULL
4607	116242668	Disease	p.Arg833Trp	VAR_029419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029419	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	140	cd00063	NULL
4607	116242668	Disease	p.Arg833Trp	VAR_029419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029419	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	161	smart00060	NULL
4607	116242668	Disease	p.Arg833Trp	VAR_029419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029419	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	89	pfam00041	NULL
4607	116242668	Disease	p.Pro872His	VAR_029420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029420	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	4	smart00060	NULL
4607	116242668	Disease	p.Pro872His	VAR_029420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029420	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	5	cd00063	NULL
4607	116242668	Disease	p.Pro872His	VAR_029420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029420	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	3	pfam00041	NULL
4607	116242668	Disease	p.Asn947Thr	VAR_029421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029421	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	183	smart00060	NULL
4607	116242668	Disease	p.Asn947Thr	VAR_029421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029421	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	163	cd00063	NULL
4607	116242668	Disease	p.Asn947Thr	VAR_029421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029421	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	107	pfam00041	NULL
4607	116242668	Disease	p.Gln997Glu	VAR_020574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020574	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	21	smart00409	NULL
4607	116242668	Disease	p.Gln997Glu	VAR_020574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020574	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	21	smart00410	NULL
4607	116242668	Disease	p.Gln997Glu	VAR_020574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020574	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	19	cd05856	NULL
4607	116242668	Disease	p.Gln997Glu	VAR_020574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020574	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	25	cd05762	NULL
4607	116242668	Disease	p.Gln997Glu	VAR_020574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020574	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	8	cd00096	NULL
4607	116242668	Disease	p.Gln997Glu	VAR_020574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020574	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	9	cd05748	NULL
4607	116242668	Disease	p.Gln997Glu	VAR_020574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020574	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	26	pfam07679	NULL
4607	116242668	Disease	p.Gln997Arg	VAR_029422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029422	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	21	smart00409	NULL
4607	116242668	Disease	p.Gln997Arg	VAR_029422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029422	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	21	smart00410	NULL
4607	116242668	Disease	p.Gln997Arg	VAR_029422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029422	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	19	cd05856	NULL
4607	116242668	Disease	p.Gln997Arg	VAR_029422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029422	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	25	cd05762	NULL
4607	116242668	Disease	p.Gln997Arg	VAR_029422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029422	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	8	cd00096	NULL
4607	116242668	Disease	p.Gln997Arg	VAR_029422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029422	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	9	cd05748	NULL
4607	116242668	Disease	p.Gln997Arg	VAR_029422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029422	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	26	pfam07679	NULL
4607	116242668	Disease	p.Arg1001Gln	VAR_029423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029423	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	38	smart00409	NULL
4607	116242668	Disease	p.Arg1001Gln	VAR_029423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029423	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	38	smart00410	NULL
4607	116242668	Disease	p.Arg1001Gln	VAR_029423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029423	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	23	cd05856	NULL
4607	116242668	Disease	p.Arg1001Gln	VAR_029423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029423	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	29	cd05762	NULL
4607	116242668	Disease	p.Arg1001Gln	VAR_029423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029423	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	26	cd00096	NULL
4607	116242668	Disease	p.Arg1001Gln	VAR_029423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029423	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	13	cd05748	NULL
4607	116242668	Disease	p.Arg1001Gln	VAR_029423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029423	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	31	pfam07679	NULL
4607	116242668	Disease	p.Pro1002Gln	VAR_029425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029425	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	39	smart00409	NULL
4607	116242668	Disease	p.Pro1002Gln	VAR_029425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029425	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	39	smart00410	NULL
4607	116242668	Disease	p.Pro1002Gln	VAR_029425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029425	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	24	cd05856	NULL
4607	116242668	Disease	p.Pro1002Gln	VAR_029425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029425	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	30	cd05762	NULL
4607	116242668	Disease	p.Pro1002Gln	VAR_029425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029425	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	27	cd00096	NULL
4607	116242668	Disease	p.Pro1002Gln	VAR_029425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029425	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	14	cd05748	NULL
4607	116242668	Disease	p.Pro1002Gln	VAR_029425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029425	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	32	pfam07679	NULL
4607	116242668	Disease	p.Thr1027Ser	VAR_045930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045930	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	173	smart00409	NULL
4607	116242668	Disease	p.Thr1027Ser	VAR_045930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045930	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	173	smart00410	NULL
4607	116242668	Disease	p.Thr1027Ser	VAR_045930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045930	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	49	cd05856	NULL
4607	116242668	Disease	p.Thr1027Ser	VAR_045930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045930	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	56	cd05762	NULL
4607	116242668	Disease	p.Thr1027Ser	VAR_045930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045930	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	92	cd00096	NULL
4607	116242668	Disease	p.Thr1027Ser	VAR_045930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045930	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	69	cd05748	NULL
4607	116242668	Disease	p.Thr1027Ser	VAR_045930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045930	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	78	pfam07679	NULL
4607	116242668	Disease	p.Phe1112Ile	VAR_029426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029426	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	115	smart00060	NULL
4607	116242668	Disease	p.Phe1112Ile	VAR_029426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029426	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	96	cd00063	NULL
4607	116242668	Disease	p.Phe1112Ile	VAR_029426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029426	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	66	pfam00041	NULL
4607	116242668	Disease	p.Val1114Ile	VAR_029427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029427	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	117	smart00060	NULL
4607	116242668	Disease	p.Val1114Ile	VAR_029427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029427	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	98	cd00063	NULL
4607	116242668	Disease	p.Val1114Ile	VAR_029427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029427	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	68	pfam00041	NULL
4607	116242668	Disease	p.Ile1130Thr	VAR_029428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029428	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	167	smart00060	NULL
4607	116242668	Disease	p.Ile1130Thr	VAR_029428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029428	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	146	cd00063	NULL
4607	116242668	Disease	p.Ile1130Thr	VAR_029428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029428	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	94	pfam00041	NULL
4607	116242668	Disease	p.Ala1193Thr	VAR_019900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019900	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	8	smart00409	NULL
4607	116242668	Disease	p.Ala1193Thr	VAR_019900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019900	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	8	smart00410	NULL
4607	116242668	Disease	p.Ala1193Thr	VAR_019900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019900	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	15	pfam07679	NULL
4607	116242668	Disease	p.Ala1193Thr	VAR_019900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019900	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	8	cd05857	NULL
4607	116242668	Disease	p.Ala1193Thr	VAR_019900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019900	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	5	cd05856	NULL
4607	116242668	Disease	p.Ala1193Thr	VAR_019900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019900	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	17	cd05730	NULL
4607	116242668	Disease	p.Ala1193Thr	VAR_019900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019900	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	10	cd05724	NULL
4607	116242668	Disease	p.Ala1193Thr	VAR_019900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019900	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	8_G	cd05729	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	120	cd00096	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	53	cd05744	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	50	cd05725	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	52	cd05763	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	48	cd05746	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	52	cd05745	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	115	smart00408	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	190	smart00409	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	190	smart00410	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	90	pfam07679	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	63	cd05857	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	60	cd05856	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	73	cd05730	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	82	cd05748	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	52	cd05723	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	71	cd05724	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	63	cd05729	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	65	cd04969	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	54	cd05743	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	85	pfam00047	NULL
4607	116242668	Disease	p.Gly1247Arg	VAR_045931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045931	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	56	cd04978	NULL
4607	116242668	Disease	p.Ala1254Thr	VAR_019901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019901	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	127	cd00096	NULL
4607	116242668	Disease	p.Ala1254Thr	VAR_019901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019901	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	60	cd05744	NULL
4607	116242668	Disease	p.Ala1254Thr	VAR_019901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019901	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	57	cd05725	NULL
4607	116242668	Disease	p.Ala1254Thr	VAR_019901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019901	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	59	cd05763	NULL
4607	116242668	Disease	p.Ala1254Thr	VAR_019901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019901	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	55	cd05746	NULL
4607	116242668	Disease	p.Ala1254Thr	VAR_019901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019901	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	59	cd05745	NULL
4607	116242668	Disease	p.Ala1254Thr	VAR_019901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019901	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	122	smart00408	NULL
4607	116242668	Disease	p.Ala1254Thr	VAR_019901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019901	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	205	smart00409	NULL
4607	116242668	Disease	p.Ala1254Thr	VAR_019901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019901	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	205	smart00410	NULL
4607	116242668	Disease	p.Ala1254Thr	VAR_019901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019901	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	97	pfam07679	NULL
4607	116242668	Disease	p.Ala1254Thr	VAR_019901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019901	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	70	cd05857	NULL
4607	116242668	Disease	p.Ala1254Thr	VAR_019901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019901	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	67	cd05856	NULL
4607	116242668	Disease	p.Ala1254Thr	VAR_019901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019901	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	80	cd05730	NULL
4607	116242668	Disease	p.Ala1254Thr	VAR_019901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019901	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	89	cd05748	NULL
4607	116242668	Disease	p.Ala1254Thr	VAR_019901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019901	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	59	cd05723	NULL
4607	116242668	Disease	p.Ala1254Thr	VAR_019901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019901	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	78	cd05724	NULL
4607	116242668	Disease	p.Ala1254Thr	VAR_019901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019901	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	70	cd05729	NULL
4607	116242668	Disease	p.Ala1254Thr	VAR_019901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019901	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	72	cd04969	NULL
4607	116242668	Disease	p.Ala1254Thr	VAR_019901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019901	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	61	cd05743	NULL
4607	116242668	Disease	p.Ala1254Thr	VAR_019901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019901	- Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]	SWISS	63	cd04978	NULL
4613	127604	Disease	p.Arg393His	VAR_031952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031952	- Feingold syndrome [MIM:164280]	SWISS	10	smart00353	19923312,NP_005369
4613	127604	Disease	p.Arg393His	VAR_031952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031952	- Feingold syndrome [MIM:164280]	SWISS	12	pfam00010	19923312,NP_005369
4613	127604	Disease	p.Arg393His	VAR_031952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031952	- Feingold syndrome [MIM:164280]	SWISS	15	cd00083	19923312,NP_005369
4613	127604	Disease	p.Arg393Ser	VAR_031953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031953	- Feingold syndrome [MIM:164280]	SWISS	10	smart00353	19923312,NP_005369
4613	127604	Disease	p.Arg393Ser	VAR_031953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031953	- Feingold syndrome [MIM:164280]	SWISS	12	pfam00010	19923312,NP_005369
4613	127604	Disease	p.Arg393Ser	VAR_031953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031953	- Feingold syndrome [MIM:164280]	SWISS	15	cd00083	19923312,NP_005369
4613	127604	Disease	p.Arg394His	VAR_031954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031954	- Feingold syndrome [MIM:164280]	SWISS	11	smart00353	19923312,NP_005369
4613	127604	Disease	p.Arg394His	VAR_031954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031954	- Feingold syndrome [MIM:164280]	SWISS	13	pfam00010	19923312,NP_005369
4613	127604	Disease	p.Arg394His	VAR_031954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031954	- Feingold syndrome [MIM:164280]	SWISS	16	cd00083	19923312,NP_005369
4615	18202671	Disease	p.Leu93Pro	VAR_047953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047953	- MYD88 deficiency (MYD88D) [MIM:612260]	SWISS	153	smart00005	NULL
4615	18202671	Disease	p.Leu93Pro	VAR_047953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047953	- MYD88 deficiency (MYD88D) [MIM:612260]	SWISS	80	pfam00531	NULL
4615	18202671	Disease	p.Leu93Pro	VAR_047953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047953	- MYD88 deficiency (MYD88D) [MIM:612260]	SWISS	69	cd08310	NULL
4615	18202671	Disease	p.Leu93Pro	VAR_047953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047953	- MYD88 deficiency (MYD88D) [MIM:612260]	SWISS	77	cd08311	NULL
4615	18202671	Disease	p.Leu93Pro	VAR_047953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047953	- MYD88 deficiency (MYD88D) [MIM:612260]	SWISS	81	cd08312	NULL
4615	18202671	Disease	p.Leu93Pro	VAR_047953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047953	- MYD88 deficiency (MYD88D) [MIM:612260]	SWISS	90	cd01670	NULL
4615	18202671	Disease	p.Arg196Cys	VAR_047954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047954	- MYD88 deficiency (MYD88D) [MIM:612260]	SWISS	50	pfam01582	NULL
4615	18202671	Disease	p.Arg196Cys	VAR_047954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047954	- MYD88 deficiency (MYD88D) [MIM:612260]	SWISS	55	smart00255	NULL
4618	127630	Disease	p.Ala90Asp	VAR_004493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004493	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	128	smart00520	4505299,NP_002460
4618	127630	Disease	p.Ala90Asp	VAR_004493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004493	- Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	115	pfam01586	4505299,NP_002460
4618	127630	Disease	p.Ala112Ser	VAR_004494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004494	rs28928909 Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	18	smart00353	4505299,NP_002460
4618	127630	Disease	p.Ala112Ser	VAR_004494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004494	rs28928909 Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	19	pfam00010	4505299,NP_002460
4618	127630	Disease	p.Ala112Ser	VAR_004494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004494	rs28928909 Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]	SWISS	22	cd00083	4505299,NP_002460
4629	13432177	Disease	p.Arg1758Gln	VAR_031735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031735	- Aortic aneurysm familial thoracic type 4 (AAT4) [MIM:132900]	SWISS	688	pfam01576	13124879,NP_002465
79784	71151982	Disease	p.Ser120Leu	VAR_037302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037302	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	105	COG5022	NULL
79784	71151982	Disease	p.Ser120Leu	VAR_037302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037302	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	19	cd01382	NULL
79784	71151982	Disease	p.Ser120Leu	VAR_037302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037302	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	16	cd01378	NULL
79784	71151982	Disease	p.Ser120Leu	VAR_037302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037302	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	14	pfam00063	NULL
79784	71151982	Disease	p.Ser120Leu	VAR_037302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037302	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	22	cd01385	NULL
79784	71151982	Disease	p.Ser120Leu	VAR_037302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037302	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	25	cd00124	NULL
79784	71151982	Disease	p.Ser120Leu	VAR_037302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037302	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	15	cd01386	NULL
79784	71151982	Disease	p.Ser120Leu	VAR_037302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037302	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	21	cd01380	NULL
79784	71151982	Disease	p.Ser120Leu	VAR_037302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037302	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	15	cd01381	NULL
79784	71151982	Disease	p.Ser120Leu	VAR_037302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037302	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	15	cd01379	NULL
79784	71151982	Disease	p.Ser120Leu	VAR_037302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037302	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	20	cd01377	NULL
79784	71151982	Disease	p.Ser120Leu	VAR_037302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037302	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	32	smart00242	NULL
79784	71151982	Disease	p.Ser120Leu	VAR_037302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037302	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	23	cd01383	NULL
79784	71151982	Disease	p.Ser120Leu	VAR_037302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037302	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	16	cd01384	NULL
79784	71151982	Disease	p.Ser120Leu	VAR_037302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037302	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	16	cd01387	NULL
79784	71151982	Disease	p.Gly376Cys	VAR_022867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022867	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	382	COG5022	NULL
79784	71151982	Disease	p.Gly376Cys	VAR_022867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022867	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	355	cd01382	NULL
79784	71151982	Disease	p.Gly376Cys	VAR_022867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022867	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	417	cd01378	NULL
79784	71151982	Disease	p.Gly376Cys	VAR_022867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022867	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	383	pfam00063	NULL
79784	71151982	Disease	p.Gly376Cys	VAR_022867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022867	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	276	cd01385	NULL
79784	71151982	Disease	p.Gly376Cys	VAR_022867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022867	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	414	cd00124	NULL
79784	71151982	Disease	p.Gly376Cys	VAR_022867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022867	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	275	cd01386	NULL
79784	71151982	Disease	p.Gly376Cys	VAR_022867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022867	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	313	cd01380	NULL
79784	71151982	Disease	p.Gly376Cys	VAR_022867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022867	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	266	cd01381	NULL
79784	71151982	Disease	p.Gly376Cys	VAR_022867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022867	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	272	cd01379	NULL
79784	71151982	Disease	p.Gly376Cys	VAR_022867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022867	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	336	cd01377	NULL
79784	71151982	Disease	p.Gly376Cys	VAR_022867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022867	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	345	cd01363	NULL
79784	71151982	Disease	p.Gly376Cys	VAR_022867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022867	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	519	smart00242	NULL
79784	71151982	Disease	p.Gly376Cys	VAR_022867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022867	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	271	cd01383	NULL
79784	71151982	Disease	p.Gly376Cys	VAR_022867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022867	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	301	cd01384	NULL
79784	71151982	Disease	p.Gly376Cys	VAR_022867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022867	- Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	269	cd01387	NULL
79784	71151982	Disease	p.Arg726Ser	VAR_022868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022868	rs28940307 Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	747	COG5022	NULL
79784	71151982	Disease	p.Arg726Ser	VAR_022868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022868	rs28940307 Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	869	cd01382	NULL
79784	71151982	Disease	p.Arg726Ser	VAR_022868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022868	rs28940307 Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	809	cd01378	NULL
79784	71151982	Disease	p.Arg726Ser	VAR_022868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022868	rs28940307 Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	878	pfam00063	NULL
79784	71151982	Disease	p.Arg726Ser	VAR_022868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022868	rs28940307 Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	759	cd01385	NULL
79784	71151982	Disease	p.Arg726Ser	VAR_022868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022868	rs28940307 Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	1064	cd00124	NULL
79784	71151982	Disease	p.Arg726Ser	VAR_022868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022868	rs28940307 Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	761	cd01386	NULL
79784	71151982	Disease	p.Arg726Ser	VAR_022868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022868	rs28940307 Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	695	cd01380	NULL
79784	71151982	Disease	p.Arg726Ser	VAR_022868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022868	rs28940307 Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	608	cd01381	NULL
79784	71151982	Disease	p.Arg726Ser	VAR_022868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022868	rs28940307 Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	948	cd01379	NULL
79784	71151982	Disease	p.Arg726Ser	VAR_022868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022868	rs28940307 Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	735	cd01377	NULL
79784	71151982	Disease	p.Arg726Ser	VAR_022868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022868	rs28940307 Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	1377	smart00242	NULL
79784	71151982	Disease	p.Arg726Ser	VAR_022868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022868	rs28940307 Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	610	cd01383	NULL
79784	71151982	Disease	p.Arg726Ser	VAR_022868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022868	rs28940307 Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	695	cd01384	NULL
79784	71151982	Disease	p.Arg726Ser	VAR_022868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022868	rs28940307 Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	616	cd01387	NULL
79784	71151982	Disease	p.Leu976Phe	VAR_022869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022869	rs28940306 Deafness autosomal dominant type 4 (DFNA4) [MIM:600652]	SWISS	1015	COG5022	NULL
4620	13431716	Disease	p.Glu706Lys	VAR_032630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032630	- Inclusion body myopathy type 3 (IBM3) [MIM:605637]	SWISS	707	cd01382	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	VAR_032630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032630	- Inclusion body myopathy type 3 (IBM3) [MIM:605637]	SWISS	756	cd01385	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	VAR_032630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032630	- Inclusion body myopathy type 3 (IBM3) [MIM:605637]	SWISS	607	cd01383	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	VAR_032630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032630	- Inclusion body myopathy type 3 (IBM3) [MIM:605637]	SWISS	1373	smart00242	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	VAR_032630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032630	- Inclusion body myopathy type 3 (IBM3) [MIM:605637]	SWISS	945	cd01379	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	VAR_032630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032630	- Inclusion body myopathy type 3 (IBM3) [MIM:605637]	SWISS	605	cd01381	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	VAR_032630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032630	- Inclusion body myopathy type 3 (IBM3) [MIM:605637]	SWISS	692	cd01380	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	VAR_032630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032630	- Inclusion body myopathy type 3 (IBM3) [MIM:605637]	SWISS	758	cd01386	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	VAR_032630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032630	- Inclusion body myopathy type 3 (IBM3) [MIM:605637]	SWISS	1056	cd00124	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	VAR_032630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032630	- Inclusion body myopathy type 3 (IBM3) [MIM:605637]	SWISS	744	COG5022	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	VAR_032630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032630	- Inclusion body myopathy type 3 (IBM3) [MIM:605637]	SWISS	873	pfam00063	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	VAR_032630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032630	- Inclusion body myopathy type 3 (IBM3) [MIM:605637]	SWISS	806	cd01378	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	VAR_032630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032630	- Inclusion body myopathy type 3 (IBM3) [MIM:605637]	SWISS	692	cd01384	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	VAR_032630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032630	- Inclusion body myopathy type 3 (IBM3) [MIM:605637]	SWISS	613	cd01387	153791586,NP_001093582|153792663,NP_060004
4620	13431716	Disease	p.Glu706Lys	VAR_032630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032630	- Inclusion body myopathy type 3 (IBM3) [MIM:605637]	SWISS	732	cd01377	153791586,NP_001093582|153792663,NP_060004
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	100	cd01385	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	90	cd01363	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	98	cd01383	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	131	smart00242	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	115	cd01380	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	131	cd00124	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	97	cd01382	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	93	cd01386	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	92	cd01381	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	92	cd01379	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	94	cd01378	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	105	pfam00063	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	94	cd01387	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	94	cd01384	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	195	COG5022	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	121	cd01377	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	100	cd01385	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	90	cd01363	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	98	cd01383	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	131	smart00242	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	115	cd01380	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	131	cd00124	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	97	cd01382	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	93	cd01386	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	92	cd01381	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	92	cd01379	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	94	cd01378	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	105	pfam00063	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	94	cd01387	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	94	cd01384	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	195	COG5022	98986453,NP_002461
4621	251757455	Disease	p.Thr178Ile	VAR_030370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030370	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	121	cd01377	98986453,NP_002461
4621	251757455	Disease	p.Ser261Phe	VAR_030371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030371	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	175	cd01385	98986453,NP_002461
4621	251757455	Disease	p.Ser261Phe	VAR_030371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030371	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	245	cd01363	98986453,NP_002461
4621	251757455	Disease	p.Ser261Phe	VAR_030371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030371	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	170	cd01383	98986453,NP_002461
4621	251757455	Disease	p.Ser261Phe	VAR_030371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030371	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	340	smart00242	98986453,NP_002461
4621	251757455	Disease	p.Ser261Phe	VAR_030371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030371	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	210	cd01380	98986453,NP_002461
4621	251757455	Disease	p.Ser261Phe	VAR_030371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030371	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	265	cd00124	98986453,NP_002461
4621	251757455	Disease	p.Ser261Phe	VAR_030371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030371	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	188	cd01382	98986453,NP_002461
4621	251757455	Disease	p.Ser261Phe	VAR_030371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030371	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	172	cd01386	98986453,NP_002461
4621	251757455	Disease	p.Ser261Phe	VAR_030371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030371	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	164	cd01381	98986453,NP_002461
4621	251757455	Disease	p.Ser261Phe	VAR_030371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030371	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	165	cd01379	98986453,NP_002461
4621	251757455	Disease	p.Ser261Phe	VAR_030371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030371	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	310	cd01378	98986453,NP_002461
4621	251757455	Disease	p.Ser261Phe	VAR_030371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030371	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	235	pfam00063	98986453,NP_002461
4621	251757455	Disease	p.Ser261Phe	VAR_030371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030371	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	169	cd01387	98986453,NP_002461
4621	251757455	Disease	p.Ser261Phe	VAR_030371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030371	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	200	cd01384	98986453,NP_002461
4621	251757455	Disease	p.Ser261Phe	VAR_030371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030371	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	280	COG5022	98986453,NP_002461
4621	251757455	Disease	p.Ser261Phe	VAR_030371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030371	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	229	cd01377	98986453,NP_002461
4621	251757455	Disease	p.Ser292Cys	VAR_030372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030372	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	206	cd01385	98986453,NP_002461
4621	251757455	Disease	p.Ser292Cys	VAR_030372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030372	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	276	cd01363	98986453,NP_002461
4621	251757455	Disease	p.Ser292Cys	VAR_030372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030372	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	201	cd01383	98986453,NP_002461
4621	251757455	Disease	p.Ser292Cys	VAR_030372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030372	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	371	smart00242	98986453,NP_002461
4621	251757455	Disease	p.Ser292Cys	VAR_030372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030372	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	241	cd01380	98986453,NP_002461
4621	251757455	Disease	p.Ser292Cys	VAR_030372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030372	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	299	cd00124	98986453,NP_002461
4621	251757455	Disease	p.Ser292Cys	VAR_030372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030372	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	219	cd01382	98986453,NP_002461
4621	251757455	Disease	p.Ser292Cys	VAR_030372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030372	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	203	cd01386	98986453,NP_002461
4621	251757455	Disease	p.Ser292Cys	VAR_030372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030372	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	195	cd01381	98986453,NP_002461
4621	251757455	Disease	p.Ser292Cys	VAR_030372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030372	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	199	cd01379	98986453,NP_002461
4621	251757455	Disease	p.Ser292Cys	VAR_030372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030372	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	341	cd01378	98986453,NP_002461
4621	251757455	Disease	p.Ser292Cys	VAR_030372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030372	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	269	pfam00063	98986453,NP_002461
4621	251757455	Disease	p.Ser292Cys	VAR_030372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030372	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	203	cd01387	98986453,NP_002461
4621	251757455	Disease	p.Ser292Cys	VAR_030372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030372	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	231	cd01384	98986453,NP_002461
4621	251757455	Disease	p.Ser292Cys	VAR_030372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030372	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	311	COG5022	98986453,NP_002461
4621	251757455	Disease	p.Ser292Cys	VAR_030372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030372	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	260	cd01377	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	VAR_030373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030373	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	294	cd01385	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	VAR_030373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030373	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	359	cd01363	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	VAR_030373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030373	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	285	cd01383	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	VAR_030373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030373	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	558	smart00242	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	VAR_030373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030373	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	336	cd01380	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	VAR_030373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030373	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	444	cd00124	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	VAR_030373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030373	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	373	cd01382	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	VAR_030373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030373	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	294	cd01386	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	VAR_030373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030373	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	280	cd01381	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	VAR_030373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030373	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	290	cd01379	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	VAR_030373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030373	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	435	cd01378	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	VAR_030373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030373	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	414	pfam00063	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	VAR_030373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030373	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	282_G	cd01387	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	VAR_030373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030373	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	317	cd01384	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	VAR_030373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030373	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	395	COG5022	98986453,NP_002461
4621	251757455	Disease	p.Glu375Lys	VAR_030373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030373	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	351	cd01377	98986453,NP_002461
4621	251757455	Disease	p.Glu498Gly	VAR_030374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030374	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	424	cd01385	98986453,NP_002461
4621	251757455	Disease	p.Glu498Gly	VAR_030374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030374	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	482	cd01363	98986453,NP_002461
4621	251757455	Disease	p.Glu498Gly	VAR_030374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030374	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	409	cd01383	98986453,NP_002461
4621	251757455	Disease	p.Glu498Gly	VAR_030374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030374	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	790	smart00242	98986453,NP_002461
4621	251757455	Disease	p.Glu498Gly	VAR_030374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030374	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	467	cd01380	98986453,NP_002461
4621	251757455	Disease	p.Glu498Gly	VAR_030374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030374	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	636	cd00124	98986453,NP_002461
4621	251757455	Disease	p.Glu498Gly	VAR_030374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030374	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	500	cd01382	98986453,NP_002461
4621	251757455	Disease	p.Glu498Gly	VAR_030374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030374	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	437	cd01386	98986453,NP_002461
4621	251757455	Disease	p.Glu498Gly	VAR_030374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030374	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	411	cd01381	98986453,NP_002461
4621	251757455	Disease	p.Glu498Gly	VAR_030374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030374	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	458	cd01379	98986453,NP_002461
4621	251757455	Disease	p.Glu498Gly	VAR_030374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030374	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	572	cd01378	98986453,NP_002461
4621	251757455	Disease	p.Glu498Gly	VAR_030374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030374	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	587	pfam00063	98986453,NP_002461
4621	251757455	Disease	p.Glu498Gly	VAR_030374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030374	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	410	cd01387	98986453,NP_002461
4621	251757455	Disease	p.Glu498Gly	VAR_030374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030374	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	474	cd01384	98986453,NP_002461
4621	251757455	Disease	p.Glu498Gly	VAR_030374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030374	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	528	COG5022	98986453,NP_002461
4621	251757455	Disease	p.Glu498Gly	VAR_030374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030374	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	495	cd01377	98986453,NP_002461
4621	251757455	Disease	p.Asp517Tyr	VAR_030375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030375	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	442	cd01385	98986453,NP_002461
4621	251757455	Disease	p.Asp517Tyr	VAR_030375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030375	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	501	cd01363	98986453,NP_002461
4621	251757455	Disease	p.Asp517Tyr	VAR_030375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030375	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	427	cd01383	98986453,NP_002461
4621	251757455	Disease	p.Asp517Tyr	VAR_030375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030375	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	810	smart00242	98986453,NP_002461
4621	251757455	Disease	p.Asp517Tyr	VAR_030375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030375	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	485	cd01380	98986453,NP_002461
4621	251757455	Disease	p.Asp517Tyr	VAR_030375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030375	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	657	cd00124	98986453,NP_002461
4621	251757455	Disease	p.Asp517Tyr	VAR_030375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030375	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	518	cd01382	98986453,NP_002461
4621	251757455	Disease	p.Asp517Tyr	VAR_030375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030375	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	466	cd01386	98986453,NP_002461
4621	251757455	Disease	p.Asp517Tyr	VAR_030375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030375	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	429	cd01381	98986453,NP_002461
4621	251757455	Disease	p.Asp517Tyr	VAR_030375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030375	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	477	cd01379	98986453,NP_002461
4621	251757455	Disease	p.Asp517Tyr	VAR_030375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030375	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	590	cd01378	98986453,NP_002461
4621	251757455	Disease	p.Asp517Tyr	VAR_030375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030375	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	606	pfam00063	98986453,NP_002461
4621	251757455	Disease	p.Asp517Tyr	VAR_030375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030375	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	428	cd01387	98986453,NP_002461
4621	251757455	Disease	p.Asp517Tyr	VAR_030375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030375	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	492	cd01384	98986453,NP_002461
4621	251757455	Disease	p.Asp517Tyr	VAR_030375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030375	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	547	COG5022	98986453,NP_002461
4621	251757455	Disease	p.Asp517Tyr	VAR_030375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030375	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	514	cd01377	98986453,NP_002461
4621	251757455	Disease	p.Tyr583Ser	VAR_030376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030376	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	512	cd01385	98986453,NP_002461
4621	251757455	Disease	p.Tyr583Ser	VAR_030376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030376	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	567	cd01363	98986453,NP_002461
4621	251757455	Disease	p.Tyr583Ser	VAR_030376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030376	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	487	cd01383	98986453,NP_002461
4621	251757455	Disease	p.Tyr583Ser	VAR_030376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030376	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	999	smart00242	98986453,NP_002461
4621	251757455	Disease	p.Tyr583Ser	VAR_030376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030376	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	550	cd01380	98986453,NP_002461
4621	251757455	Disease	p.Tyr583Ser	VAR_030376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030376	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	773	cd00124	98986453,NP_002461
4621	251757455	Disease	p.Tyr583Ser	VAR_030376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030376	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	590	cd01382	98986453,NP_002461
4621	251757455	Disease	p.Tyr583Ser	VAR_030376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030376	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	581	cd01386	98986453,NP_002461
4621	251757455	Disease	p.Tyr583Ser	VAR_030376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030376	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	492	cd01381	98986453,NP_002461
4621	251757455	Disease	p.Tyr583Ser	VAR_030376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030376	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	537	cd01379	98986453,NP_002461
4621	251757455	Disease	p.Tyr583Ser	VAR_030376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030376	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	670	cd01378	98986453,NP_002461
4621	251757455	Disease	p.Tyr583Ser	VAR_030376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030376	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	691	pfam00063	98986453,NP_002461
4621	251757455	Disease	p.Tyr583Ser	VAR_030376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030376	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	490	cd01387	98986453,NP_002461
4621	251757455	Disease	p.Tyr583Ser	VAR_030376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030376	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	560	cd01384	98986453,NP_002461
4621	251757455	Disease	p.Tyr583Ser	VAR_030376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030376	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	614	COG5022	98986453,NP_002461
4621	251757455	Disease	p.Tyr583Ser	VAR_030376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030376	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	600	cd01377	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	VAR_030377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030377	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	727	cd01385	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	VAR_030377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030377	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	694	cd01363	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	VAR_030377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030377	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	578	cd01383	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	VAR_030377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030377	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	1344	smart00242	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	VAR_030377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030377	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	663	cd01380	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	VAR_030377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030377	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	1005	cd00124	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	VAR_030377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030377	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	678	cd01382	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	VAR_030377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030377	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	698	cd01386	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	VAR_030377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030377	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	576	cd01381	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	VAR_030377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030377	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	916	cd01379	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	VAR_030377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030377	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	777	cd01378	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	VAR_030377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030377	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	841	pfam00063	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	VAR_030377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030377	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	584	cd01387	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	VAR_030377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030377	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	663	cd01384	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	VAR_030377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030377	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	715	COG5022	98986453,NP_002461
4621	251757455	Disease	p.Arg672Cys	VAR_030377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030377	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	703	cd01377	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	VAR_030378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030378	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	727	cd01385	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	VAR_030378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030378	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	694	cd01363	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	VAR_030378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030378	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	578	cd01383	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	VAR_030378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030378	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	1344	smart00242	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	VAR_030378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030378	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	663	cd01380	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	VAR_030378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030378	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	1005	cd00124	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	VAR_030378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030378	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	678	cd01382	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	VAR_030378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030378	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	698	cd01386	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	VAR_030378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030378	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	576	cd01381	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	VAR_030378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030378	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	916	cd01379	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	VAR_030378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030378	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	777	cd01378	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	VAR_030378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030378	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	841	pfam00063	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	VAR_030378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030378	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	584	cd01387	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	VAR_030378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030378	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	663	cd01384	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	VAR_030378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030378	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	715	COG5022	98986453,NP_002461
4621	251757455	Disease	p.Arg672His	VAR_030378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030378	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	703	cd01377	98986453,NP_002461
4621	251757455	Disease	p.Gly769Val	VAR_030379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030379	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	820	cd01385	98986453,NP_002461
4621	251757455	Disease	p.Gly769Val	VAR_030379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030379	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	672	cd01383	98986453,NP_002461
4621	251757455	Disease	p.Gly769Val	VAR_030379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030379	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	1510	smart00242	98986453,NP_002461
4621	251757455	Disease	p.Gly769Val	VAR_030379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030379	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	772	cd01380	98986453,NP_002461
4621	251757455	Disease	p.Gly769Val	VAR_030379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030379	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	1157	cd00124	98986453,NP_002461
4621	251757455	Disease	p.Gly769Val	VAR_030379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030379	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	931	cd01382	98986453,NP_002461
4621	251757455	Disease	p.Gly769Val	VAR_030379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030379	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	836	cd01386	98986453,NP_002461
4621	251757455	Disease	p.Gly769Val	VAR_030379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030379	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	673	cd01381	98986453,NP_002461
4621	251757455	Disease	p.Gly769Val	VAR_030379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030379	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	1089	cd01379	98986453,NP_002461
4621	251757455	Disease	p.Gly769Val	VAR_030379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030379	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	881	cd01378	98986453,NP_002461
4621	251757455	Disease	p.Gly769Val	VAR_030379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030379	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	682	cd01387	98986453,NP_002461
4621	251757455	Disease	p.Gly769Val	VAR_030379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030379	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	801	cd01384	98986453,NP_002461
4621	251757455	Disease	p.Gly769Val	VAR_030379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030379	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	819	COG5022	98986453,NP_002461
4621	251757455	Disease	p.Gly769Val	VAR_030379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030379	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	817	cd01377	98986453,NP_002461
4621	251757455	Disease	p.Val825Asp	VAR_030380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030380	- Distal arthrogryposis type 2A (DA2A) [MIM:193700]	SWISS	877	COG5022	98986453,NP_002461
4621	251757455	Disease	p.Lys838Glu	VAR_030381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030381	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	890	COG5022	98986453,NP_002461
4621	251757455	Disease	p.Asp1622Ala	VAR_030383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030383	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	555	pfam01576	98986453,NP_002461
4621	251757455	Disease	p.Ala1637Val	VAR_030384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030384	rs34165480 Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	570	pfam01576	98986453,NP_002461
4624	215274256	Disease	p.Arg795Gln	VAR_031882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031882	- Cardiomyopathy familial hypertrophic type 14 (CMH14) [MIM:613251]	SWISS	845	COG5022	NULL
4624	215274256	Disease	p.Arg795Gln	VAR_031882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031882	- Cardiomyopathy familial hypertrophic type 14 (CMH14) [MIM:613251]	SWISS	1113	cd01379	NULL
4624	215274256	Disease	p.Ile820Asn	VAR_031883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031883	- Atrial septal defect type 3 (ASD3) [MIM:160710]	SWISS	870	COG5022	NULL
4624	215274256	Disease	p.Pro830Leu	VAR_063552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063552	- Cardiomyopathy dilated type 1EE (CMD1EE) [MIM:613252]	SWISS	881	COG5022	NULL
4624	215274256	Disease	p.Ala1004Ser	VAR_063553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063553	- Cardiomyopathy dilated type 1EE (CMD1EE) [MIM:613252]	SWISS	1091	COG5022	NULL
4624	215274256	Disease	p.Gln1065His	VAR_063554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063554	- Cardiomyopathy familial hypertrophic type 14 (CMH14) [MIM:613251]	SWISS	1163	COG5022	NULL
4624	215274256	Disease	p.Glu1457Lys	VAR_063557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063557	- Cardiomyopathy dilated type 1EE (CMD1EE) [MIM:613252]	SWISS	388	pfam01576	NULL
4624	215274256	Disease	p.Glu1457Lys	VAR_063557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063557	- Cardiomyopathy dilated type 1EE (CMD1EE) [MIM:613252]	SWISS	1602	COG5022	NULL
4625	83304912	Disease	p.Ala26Val	VAR_004566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004566	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	No Domain	N/A	115496169,NP_000248
4625	83304912	Disease	p.Val39Met	VAR_019845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019845	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	14	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Val39Met	VAR_019845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019845	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	6	pfam02736	115496169,NP_000248
4625	83304912	Disease	p.Val59Ile	VAR_004567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004567	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	50	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Val59Ile	VAR_004567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004567	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	31	pfam02736	115496169,NP_000248
4625	83304912	Disease	p.Tyr115His	VAR_042762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042762	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	31	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Tyr115His	VAR_042762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042762	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	31	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Tyr115His	VAR_042762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042762	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	120	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Tyr115His	VAR_042762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042762	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	48	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Tyr115His	VAR_042762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042762	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	38	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Tyr115His	VAR_042762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042762	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	35	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Tyr115His	VAR_042762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042762	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	30	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Tyr115His	VAR_042762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042762	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	31	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Tyr115His	VAR_042762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042762	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	37	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Tyr115His	VAR_042762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042762	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	30	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Tyr115His	VAR_042762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042762	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	30	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Tyr115His	VAR_042762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042762	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	34	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Tyr115His	VAR_042762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042762	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	30	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Tyr115His	VAR_042762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042762	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	41	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Tyr115His	VAR_042762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042762	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	37	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Thr124Ile	VAR_020797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	40	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Thr124Ile	VAR_020797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	40	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Thr124Ile	VAR_020797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	129	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Thr124Ile	VAR_020797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	57	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Thr124Ile	VAR_020797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	47	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Thr124Ile	VAR_020797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	4	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Thr124Ile	VAR_020797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	44	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Thr124Ile	VAR_020797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	39	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Thr124Ile	VAR_020797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	40	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Thr124Ile	VAR_020797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	46	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Thr124Ile	VAR_020797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	39	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Thr124Ile	VAR_020797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	39	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Thr124Ile	VAR_020797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	43	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Thr124Ile	VAR_020797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	39	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Thr124Ile	VAR_020797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	58	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Thr124Ile	VAR_020797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	49	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gly	VAR_042763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042763	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	60	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gly	VAR_042763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042763	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	60	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gly	VAR_042763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042763	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	149	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gly	VAR_042763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042763	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	77	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gly	VAR_042763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042763	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	66	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gly	VAR_042763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042763	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	55	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gly	VAR_042763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042763	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	63	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gly	VAR_042763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042763	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	59	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gly	VAR_042763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042763	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	60	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gly	VAR_042763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042763	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	65	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gly	VAR_042763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042763	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	58	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gly	VAR_042763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042763	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	58	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gly	VAR_042763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042763	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	63	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gly	VAR_042763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042763	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	58	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gly	VAR_042763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042763	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	78	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gly	VAR_042763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042763	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	69	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gln	VAR_004568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004568	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	60	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gln	VAR_004568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004568	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	60	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gln	VAR_004568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004568	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	149	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gln	VAR_004568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004568	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	77	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gln	VAR_004568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004568	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	66	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gln	VAR_004568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004568	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	55	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gln	VAR_004568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004568	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	63	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gln	VAR_004568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004568	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	59	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gln	VAR_004568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004568	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	60	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gln	VAR_004568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004568	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	65	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gln	VAR_004568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004568	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	58	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gln	VAR_004568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004568	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	58	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gln	VAR_004568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004568	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	63	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gln	VAR_004568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004568	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	58	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gln	VAR_004568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004568	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	78	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg143Gln	VAR_004568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004568	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	69	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg143Trp	VAR_029431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029431	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	60	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg143Trp	VAR_029431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029431	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	60	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg143Trp	VAR_029431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029431	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	149	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg143Trp	VAR_029431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029431	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	77	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg143Trp	VAR_029431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029431	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	66	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg143Trp	VAR_029431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029431	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	55	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg143Trp	VAR_029431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029431	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	63	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg143Trp	VAR_029431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029431	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	59	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg143Trp	VAR_029431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029431	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	60	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg143Trp	VAR_029431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029431	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	65	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg143Trp	VAR_029431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029431	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	58	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg143Trp	VAR_029431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029431	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	58	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg143Trp	VAR_029431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029431	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	63	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg143Trp	VAR_029431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029431	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	58	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg143Trp	VAR_029431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029431	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	78	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg143Trp	VAR_029431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029431	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	69	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Lys146Asn	VAR_042764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042764	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	63	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Lys146Asn	VAR_042764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042764	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	63	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Lys146Asn	VAR_042764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042764	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	152	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Lys146Asn	VAR_042764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042764	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	80	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Lys146Asn	VAR_042764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042764	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	67	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Lys146Asn	VAR_042764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042764	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	58	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Lys146Asn	VAR_042764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042764	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	66	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Lys146Asn	VAR_042764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042764	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	62	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Lys146Asn	VAR_042764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042764	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	63	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Lys146Asn	VAR_042764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042764	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	68	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Lys146Asn	VAR_042764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042764	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	61	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Lys146Asn	VAR_042764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042764	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	61	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Lys146Asn	VAR_042764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042764	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	66	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Lys146Asn	VAR_042764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042764	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	61	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Lys146Asn	VAR_042764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042764	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	81	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Lys146Asn	VAR_042764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042764	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	72	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ser148Ile	VAR_042765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042765	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	65	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ser148Ile	VAR_042765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042765	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	65	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ser148Ile	VAR_042765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042765	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	166	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ser148Ile	VAR_042765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042765	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	99	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ser148Ile	VAR_042765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042765	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	69	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ser148Ile	VAR_042765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042765	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	60	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Ser148Ile	VAR_042765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042765	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	89	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ser148Ile	VAR_042765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042765	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	76	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ser148Ile	VAR_042765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042765	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	65	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ser148Ile	VAR_042765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042765	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	71	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ser148Ile	VAR_042765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042765	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	63	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ser148Ile	VAR_042765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042765	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	64	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ser148Ile	VAR_042765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042765	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	68	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ser148Ile	VAR_042765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042765	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	63	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ser148Ile	VAR_042765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042765	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	102	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ser148Ile	VAR_042765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042765	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	76	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Tyr162Cys	VAR_020798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	79	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Tyr162Cys	VAR_020798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	79	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Tyr162Cys	VAR_020798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	180	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Tyr162Cys	VAR_020798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	113	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Tyr162Cys	VAR_020798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	83	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Tyr162Cys	VAR_020798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	75	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Tyr162Cys	VAR_020798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	103	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Tyr162Cys	VAR_020798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	90	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Tyr162Cys	VAR_020798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	79	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Tyr162Cys	VAR_020798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	85	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Tyr162Cys	VAR_020798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	77	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Tyr162Cys	VAR_020798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	78	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Tyr162Cys	VAR_020798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	82	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Tyr162Cys	VAR_020798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	77	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Tyr162Cys	VAR_020798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	116	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Tyr162Cys	VAR_020798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	90	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Val186Leu	VAR_042766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042766	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	103	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Val186Leu	VAR_042766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042766	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	103	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Val186Leu	VAR_042766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042766	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	204	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Val186Leu	VAR_042766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042766	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	140	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Val186Leu	VAR_042766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042766	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	107	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Val186Leu	VAR_042766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042766	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	99	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Val186Leu	VAR_042766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042766	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	130	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Val186Leu	VAR_042766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042766	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	114	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Val186Leu	VAR_042766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042766	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	103	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Val186Leu	VAR_042766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042766	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	109	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Val186Leu	VAR_042766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042766	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	101	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Val186Leu	VAR_042766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042766	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	102	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Val186Leu	VAR_042766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042766	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	106	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Val186Leu	VAR_042766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042766	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	101	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Val186Leu	VAR_042766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042766	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	140	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Val186Leu	VAR_042766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042766	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	124	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Asn187Lys	VAR_020799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	104	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Asn187Lys	VAR_020799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	104	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Asn187Lys	VAR_020799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	205	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Asn187Lys	VAR_020799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	141	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Asn187Lys	VAR_020799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	108	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Asn187Lys	VAR_020799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	100	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Asn187Lys	VAR_020799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	131	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Asn187Lys	VAR_020799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	115	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Asn187Lys	VAR_020799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	104	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Asn187Lys	VAR_020799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	110	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Asn187Lys	VAR_020799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	102	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Asn187Lys	VAR_020799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	103	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Asn187Lys	VAR_020799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	107	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Asn187Lys	VAR_020799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	102	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Asn187Lys	VAR_020799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	141	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Asn187Lys	VAR_020799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	125	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Thr188Asn	VAR_019846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019846	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	105	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Thr188Asn	VAR_019846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019846	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	105	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Thr188Asn	VAR_019846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019846	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	206	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Thr188Asn	VAR_019846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019846	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	142	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Thr188Asn	VAR_019846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019846	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	109	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Thr188Asn	VAR_019846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019846	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	101	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Thr188Asn	VAR_019846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019846	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	132	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Thr188Asn	VAR_019846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019846	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	116	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Thr188Asn	VAR_019846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019846	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	105	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Thr188Asn	VAR_019846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019846	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	111	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Thr188Asn	VAR_019846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019846	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	103	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Thr188Asn	VAR_019846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019846	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	104	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Thr188Asn	VAR_019846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019846	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	108	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Thr188Asn	VAR_019846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019846	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	103	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Thr188Asn	VAR_019846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019846	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	142	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Thr188Asn	VAR_019846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019846	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	126	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg190Thr	VAR_020800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	107	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg190Thr	VAR_020800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	107	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg190Thr	VAR_020800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	208	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg190Thr	VAR_020800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	144	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg190Thr	VAR_020800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	111	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg190Thr	VAR_020800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	120	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg190Thr	VAR_020800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	134	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg190Thr	VAR_020800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	118	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg190Thr	VAR_020800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	107	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg190Thr	VAR_020800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	113	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg190Thr	VAR_020800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	105	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg190Thr	VAR_020800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	106	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg190Thr	VAR_020800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	110	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg190Thr	VAR_020800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	105	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg190Thr	VAR_020800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	144	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg190Thr	VAR_020800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	128	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ala196Thr	VAR_042767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042767	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	113	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ala196Thr	VAR_042767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042767	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	113	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ala196Thr	VAR_042767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042767	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	214	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ala196Thr	VAR_042767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042767	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	150	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ala196Thr	VAR_042767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042767	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	115_G	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ala196Thr	VAR_042767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042767	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	126	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Ala196Thr	VAR_042767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042767	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	140	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ala196Thr	VAR_042767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042767	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	124	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ala196Thr	VAR_042767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042767	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	113	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ala196Thr	VAR_042767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042767	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	119	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ala196Thr	VAR_042767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042767	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	111	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ala196Thr	VAR_042767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042767	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	112	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ala196Thr	VAR_042767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042767	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	116	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ala196Thr	VAR_042767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042767	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	111	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ala196Thr	VAR_042767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042767	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	150	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ala196Thr	VAR_042767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042767	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	134	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ile201Thr	VAR_042768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042768	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	118	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ile201Thr	VAR_042768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042768	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	118	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ile201Thr	VAR_042768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042768	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	219	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ile201Thr	VAR_042768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042768	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	195	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ile201Thr	VAR_042768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042768	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	119	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ile201Thr	VAR_042768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042768	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	131	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Ile201Thr	VAR_042768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042768	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	145	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ile201Thr	VAR_042768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042768	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	129	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ile201Thr	VAR_042768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042768	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	118	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ile201Thr	VAR_042768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042768	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	124	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ile201Thr	VAR_042768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042768	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	116	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ile201Thr	VAR_042768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042768	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	117	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ile201Thr	VAR_042768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042768	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	121	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ile201Thr	VAR_042768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042768	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	114_G	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ile201Thr	VAR_042768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042768	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	155	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ile201Thr	VAR_042768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042768	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	139	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg204His	VAR_019847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019847	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	121	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg204His	VAR_019847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019847	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	121	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg204His	VAR_019847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019847	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	222	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg204His	VAR_019847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019847	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	198	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg204His	VAR_019847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019847	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	122	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg204His	VAR_019847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019847	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	134	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg204His	VAR_019847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019847	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	148	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg204His	VAR_019847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019847	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	132	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg204His	VAR_019847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019847	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	121	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg204His	VAR_019847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019847	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	125_G	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg204His	VAR_019847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019847	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	119	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg204His	VAR_019847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019847	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	117_G	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg204His	VAR_019847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019847	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	132	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg204His	VAR_019847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019847	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	117	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg204His	VAR_019847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019847	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	169	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg204His	VAR_019847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019847	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	150	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Lys207Gln	VAR_042769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042769	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	124	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Lys207Gln	VAR_042769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042769	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	147	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Lys207Gln	VAR_042769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042769	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	227	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Lys207Gln	VAR_042769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042769	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	201	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Lys207Gln	VAR_042769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042769	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	124_G	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Lys207Gln	VAR_042769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042769	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	137	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Lys207Gln	VAR_042769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042769	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	175	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Lys207Gln	VAR_042769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042769	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	135	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Lys207Gln	VAR_042769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042769	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	144	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Lys207Gln	VAR_042769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042769	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	125_G	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Lys207Gln	VAR_042769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042769	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	119_G	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Lys207Gln	VAR_042769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042769	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	118	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Lys207Gln	VAR_042769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042769	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	135	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Lys207Gln	VAR_042769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042769	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	119_G	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Lys207Gln	VAR_042769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042769	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	172	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Lys207Gln	VAR_042769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042769	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	153	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Pro211Leu	VAR_042770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042770	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	126_G	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Pro211Leu	VAR_042770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042770	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	151	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Pro211Leu	VAR_042770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042770	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	231	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Pro211Leu	VAR_042770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042770	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	215	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Pro211Leu	VAR_042770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042770	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	124_G	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Pro211Leu	VAR_042770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042770	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	195	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Pro211Leu	VAR_042770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042770	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	179	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Pro211Leu	VAR_042770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042770	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	182	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Pro211Leu	VAR_042770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042770	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	148	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Pro211Leu	VAR_042770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042770	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	127	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Pro211Leu	VAR_042770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042770	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	119_G	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Pro211Leu	VAR_042770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042770	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	122	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Pro211Leu	VAR_042770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042770	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	139	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Pro211Leu	VAR_042770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042770	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	119_G	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Pro211Leu	VAR_042770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042770	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	203	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Pro211Leu	VAR_042770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042770	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	157	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Gln222Lys	VAR_020801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	132	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Gln222Lys	VAR_020801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	162	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Gln222Lys	VAR_020801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	242	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gln222Lys	VAR_020801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	281	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Gln222Lys	VAR_020801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	132	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Gln222Lys	VAR_020801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	206	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Gln222Lys	VAR_020801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	190	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Gln222Lys	VAR_020801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	193	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Gln222Lys	VAR_020801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	272	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Gln222Lys	VAR_020801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	137	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Gln222Lys	VAR_020801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	127	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Gln222Lys	VAR_020801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	133	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Gln222Lys	VAR_020801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	150	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Gln222Lys	VAR_020801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	126	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Gln222Lys	VAR_020801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	214	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Gln222Lys	VAR_020801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	168	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	VAR_017746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017746	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	133	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	VAR_017746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017746	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	163	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	VAR_017746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017746	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	243	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	VAR_017746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017746	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	284	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	VAR_017746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017746	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	133	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	VAR_017746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017746	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	207	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	VAR_017746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017746	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	191	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	VAR_017746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017746	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	194	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	VAR_017746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017746	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	273	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	VAR_017746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017746	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	138	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	VAR_017746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017746	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	128	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	VAR_017746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017746	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	134	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	VAR_017746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017746	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	151	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	VAR_017746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017746	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	127	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	VAR_017746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017746	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	215	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ala223Thr	VAR_017746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017746	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	169	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Leu227Val	VAR_042771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042771	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	137	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Leu227Val	VAR_042771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042771	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	167	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Leu227Val	VAR_042771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042771	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	247	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Leu227Val	VAR_042771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042771	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	288	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Leu227Val	VAR_042771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042771	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	137	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Leu227Val	VAR_042771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042771	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	211	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Leu227Val	VAR_042771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042771	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	195	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Leu227Val	VAR_042771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042771	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	198	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Leu227Val	VAR_042771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042771	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	277	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Leu227Val	VAR_042771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042771	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	142	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Leu227Val	VAR_042771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042771	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	132	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Leu227Val	VAR_042771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042771	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	139	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Leu227Val	VAR_042771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042771	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	155	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Leu227Val	VAR_042771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042771	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	131	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Leu227Val	VAR_042771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042771	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	219	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Leu227Val	VAR_042771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042771	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	173	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Asn232Ser	VAR_019848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019848	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	142	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Asn232Ser	VAR_019848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019848	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	172	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Asn232Ser	VAR_019848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019848	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	252	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Asn232Ser	VAR_019848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019848	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	305	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Asn232Ser	VAR_019848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019848	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	142	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Asn232Ser	VAR_019848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019848	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	217	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Asn232Ser	VAR_019848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019848	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	200	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Asn232Ser	VAR_019848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019848	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	203	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Asn232Ser	VAR_019848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019848	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	282	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Asn232Ser	VAR_019848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019848	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	147	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Asn232Ser	VAR_019848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019848	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	137	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Asn232Ser	VAR_019848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019848	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	144	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Asn232Ser	VAR_019848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019848	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	160	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Asn232Ser	VAR_019848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019848	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	136	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Asn232Ser	VAR_019848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019848	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	224	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Asn232Ser	VAR_019848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019848	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	178	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Phe244Leu	VAR_020802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	154	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Phe244Leu	VAR_020802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	184	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Phe244Leu	VAR_020802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	264	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Phe244Leu	VAR_020802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	317	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Phe244Leu	VAR_020802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	154	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Phe244Leu	VAR_020802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	229	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Phe244Leu	VAR_020802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	212	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Phe244Leu	VAR_020802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	215	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Phe244Leu	VAR_020802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	294	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Phe244Leu	VAR_020802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	159	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Phe244Leu	VAR_020802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	149	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Phe244Leu	VAR_020802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	156	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Phe244Leu	VAR_020802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	172	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Phe244Leu	VAR_020802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	148	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Phe244Leu	VAR_020802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	236	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Phe244Leu	VAR_020802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	190	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	VAR_004569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004569	rs3218713 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	159	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	VAR_004569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004569	rs3218713 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	189	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	VAR_004569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004569	rs3218713 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	269	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	VAR_004569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004569	rs3218713 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	322	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	VAR_004569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004569	rs3218713 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	159	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	VAR_004569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004569	rs3218713 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	234	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	VAR_004569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004569	rs3218713 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	217	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	VAR_004569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004569	rs3218713 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	220	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	VAR_004569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004569	rs3218713 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	299	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	VAR_004569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004569	rs3218713 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	164	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	VAR_004569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004569	rs3218713 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	154	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	VAR_004569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004569	rs3218713 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	161	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	VAR_004569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004569	rs3218713 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	177	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	VAR_004569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004569	rs3218713 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	153	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	VAR_004569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004569	rs3218713 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	241	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg249Gln	VAR_004569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004569	rs3218713 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	195	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	VAR_004570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004570	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	165	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	VAR_004570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004570	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	196	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	VAR_004570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004570	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	276	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	VAR_004570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004570	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	329	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	VAR_004570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004570	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	166	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	VAR_004570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004570	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	241	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	VAR_004570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004570	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	224	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	VAR_004570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004570	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	227	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	VAR_004570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004570	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	306	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	VAR_004570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004570	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	171	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	VAR_004570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004570	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	161	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	VAR_004570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004570	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	168	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	VAR_004570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004570	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	184	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	VAR_004570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004570	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	160	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	VAR_004570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004570	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	252	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Gly256Glu	VAR_004570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004570	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	203	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ile263Met	VAR_042772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042772	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	172	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ile263Met	VAR_042772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042772	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	203	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ile263Met	VAR_042772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042772	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	283	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ile263Met	VAR_042772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042772	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	343	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ile263Met	VAR_042772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042772	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	173	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ile263Met	VAR_042772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042772	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	248	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Ile263Met	VAR_042772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042772	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	232	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ile263Met	VAR_042772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042772	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	238	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ile263Met	VAR_042772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042772	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	313	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ile263Met	VAR_042772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042772	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	178	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ile263Met	VAR_042772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042772	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	168	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ile263Met	VAR_042772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042772	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	175	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ile263Met	VAR_042772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042772	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	191	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ile263Met	VAR_042772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042772	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	167	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ile263Met	VAR_042772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042772	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	268	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ile263Met	VAR_042772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042772	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	213	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ile263Thr	VAR_004571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004571	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	172	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ile263Thr	VAR_004571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004571	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	203	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ile263Thr	VAR_004571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004571	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	283	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ile263Thr	VAR_004571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004571	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	343	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ile263Thr	VAR_004571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004571	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	173	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ile263Thr	VAR_004571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004571	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	248	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Ile263Thr	VAR_004571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004571	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	232	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ile263Thr	VAR_004571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004571	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	238	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ile263Thr	VAR_004571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004571	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	313	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ile263Thr	VAR_004571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004571	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	178	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ile263Thr	VAR_004571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004571	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	168	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ile263Thr	VAR_004571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004571	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	175	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ile263Thr	VAR_004571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004571	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	191	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ile263Thr	VAR_004571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004571	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	167	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ile263Thr	VAR_004571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004571	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	268	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ile263Thr	VAR_004571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004571	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	213	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Phe312Cys	VAR_042773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042773	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	220	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Phe312Cys	VAR_042773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042773	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	252	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Phe312Cys	VAR_042773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042773	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	333	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Phe312Cys	VAR_042773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042773	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	414	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Phe312Cys	VAR_042773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042773	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	222	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Phe312Cys	VAR_042773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042773	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	297	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Phe312Cys	VAR_042773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042773	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	283	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Phe312Cys	VAR_042773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042773	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	305	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Phe312Cys	VAR_042773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042773	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	363	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Phe312Cys	VAR_042773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042773	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	227	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Phe312Cys	VAR_042773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042773	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	219_G	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Phe312Cys	VAR_042773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042773	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	229	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Phe312Cys	VAR_042773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042773	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	239	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Phe312Cys	VAR_042773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042773	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	217	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Phe312Cys	VAR_042773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042773	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	339	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Phe312Cys	VAR_042773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042773	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	262	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Val320Met	VAR_020803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	229	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Val320Met	VAR_020803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	261	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Val320Met	VAR_020803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	342	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Val320Met	VAR_020803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	473	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Val320Met	VAR_020803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	230	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Val320Met	VAR_020803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	305	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Val320Met	VAR_020803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	291	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Val320Met	VAR_020803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	318	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Val320Met	VAR_020803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	376	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Val320Met	VAR_020803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	235	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Val320Met	VAR_020803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	232	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Val320Met	VAR_020803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	239	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Val320Met	VAR_020803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	258	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Val320Met	VAR_020803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	225	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Val320Met	VAR_020803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	347	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Val320Met	VAR_020803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	273	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Glu328Gly	VAR_042774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042774	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	237	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Glu328Gly	VAR_042774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042774	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	269	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Glu328Gly	VAR_042774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042774	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	350	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu328Gly	VAR_042774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042774	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	482	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Glu328Gly	VAR_042774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042774	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	239	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Glu328Gly	VAR_042774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042774	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	313	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Glu328Gly	VAR_042774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042774	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	304	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Glu328Gly	VAR_042774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042774	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	351	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Glu328Gly	VAR_042774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042774	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	384	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Glu328Gly	VAR_042774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042774	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	244	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Glu328Gly	VAR_042774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042774	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	240	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Glu328Gly	VAR_042774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042774	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	243_G	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Glu328Gly	VAR_042774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042774	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	282	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Glu328Gly	VAR_042774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042774	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	234	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Glu328Gly	VAR_042774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042774	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	382	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Glu328Gly	VAR_042774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042774	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	281	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	VAR_004572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004572	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	258	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	VAR_004572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004572	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	290	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	VAR_004572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004572	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	371	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	VAR_004572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004572	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	508	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	VAR_004572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004572	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	260	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	VAR_004572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004572	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	334	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	VAR_004572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004572	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	325	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	VAR_004572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004572	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	372	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	VAR_004572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004572	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	406	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	VAR_004572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004572	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	265	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	VAR_004572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004572	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	261	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	VAR_004572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004572	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	264	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	VAR_004572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004572	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	344	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	VAR_004572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004572	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	255	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	VAR_004572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004572	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	403	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Met349Thr	VAR_004572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004572	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	302	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Lys351Glu	VAR_042775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042775	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	260	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Lys351Glu	VAR_042775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042775	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	292	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Lys351Glu	VAR_042775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042775	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	373	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Lys351Glu	VAR_042775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042775	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	510	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Lys351Glu	VAR_042775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042775	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	262	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Lys351Glu	VAR_042775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042775	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	336	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Lys351Glu	VAR_042775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042775	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	327	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Lys351Glu	VAR_042775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042775	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	374	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Lys351Glu	VAR_042775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042775	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	408	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Lys351Glu	VAR_042775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042775	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	267	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Lys351Glu	VAR_042775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042775	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	263	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Lys351Glu	VAR_042775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042775	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	266	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Lys351Glu	VAR_042775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042775	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	346	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Lys351Glu	VAR_042775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042775	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	257	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Lys351Glu	VAR_042775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042775	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	405	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Lys351Glu	VAR_042775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042775	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	304	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ala355Thr	VAR_019849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019849	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	264	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ala355Thr	VAR_019849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019849	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	296	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ala355Thr	VAR_019849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019849	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	377	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ala355Thr	VAR_019849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019849	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	514	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ala355Thr	VAR_019849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019849	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	266	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ala355Thr	VAR_019849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019849	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	340	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Ala355Thr	VAR_019849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019849	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	331	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ala355Thr	VAR_019849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019849	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	378	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ala355Thr	VAR_019849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019849	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	412	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ala355Thr	VAR_019849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019849	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	271	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ala355Thr	VAR_019849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019849	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	267	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ala355Thr	VAR_019849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019849	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	270	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ala355Thr	VAR_019849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019849	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	350	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ala355Thr	VAR_019849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019849	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	261	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ala355Thr	VAR_019849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019849	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	409	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ala355Thr	VAR_019849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019849	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	308	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Lys383Asn	VAR_042776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042776	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	295	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Lys383Asn	VAR_042776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042776	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	332	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Lys383Asn	VAR_042776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042776	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	404	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Lys383Asn	VAR_042776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042776	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	568	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Lys383Asn	VAR_042776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042776	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	294	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Lys383Asn	VAR_042776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042776	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	368	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Lys383Asn	VAR_042776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042776	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	362	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Lys383Asn	VAR_042776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042776	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	424	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Lys383Asn	VAR_042776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042776	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	445_G	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Lys383Asn	VAR_042776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042776	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	303	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Lys383Asn	VAR_042776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042776	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	299	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Lys383Asn	VAR_042776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042776	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	300	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Lys383Asn	VAR_042776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042776	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	382	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Lys383Asn	VAR_042776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042776	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	292	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Lys383Asn	VAR_042776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042776	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	453	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Lys383Asn	VAR_042776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042776	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	344	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ala385Val	VAR_042777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042777	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	297	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ala385Val	VAR_042777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042777	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	334	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ala385Val	VAR_042777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042777	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	406	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ala385Val	VAR_042777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042777	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	570	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ala385Val	VAR_042777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042777	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	296	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ala385Val	VAR_042777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042777	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	370	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Ala385Val	VAR_042777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042777	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	364	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ala385Val	VAR_042777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042777	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	426	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ala385Val	VAR_042777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042777	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	446	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ala385Val	VAR_042777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042777	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	305	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ala385Val	VAR_042777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042777	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	301	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ala385Val	VAR_042777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042777	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	302	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ala385Val	VAR_042777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042777	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	384	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ala385Val	VAR_042777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042777	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	294	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ala385Val	VAR_042777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042777	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	455	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ala385Val	VAR_042777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042777	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	346	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Leu390Val	VAR_020804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020804	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	302	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Leu390Val	VAR_020804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020804	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	339	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Leu390Val	VAR_020804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020804	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	411	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Leu390Val	VAR_020804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020804	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	575	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Leu390Val	VAR_020804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020804	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	301	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Leu390Val	VAR_020804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020804	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	375	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Leu390Val	VAR_020804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020804	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	369	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Leu390Val	VAR_020804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020804	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	431	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Leu390Val	VAR_020804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020804	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	451	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Leu390Val	VAR_020804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020804	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	310	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Leu390Val	VAR_020804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020804	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	306	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Leu390Val	VAR_020804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020804	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	307	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Leu390Val	VAR_020804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020804	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	389	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Leu390Val	VAR_020804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020804	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	299	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Leu390Val	VAR_020804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020804	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	460	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Leu390Val	VAR_020804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020804	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	351	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	VAR_004573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004573	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	315	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	VAR_004573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004573	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	353	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	VAR_004573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004573	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	424	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	VAR_004573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004573	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	591	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	VAR_004573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004573	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	314	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	VAR_004573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004573	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	388	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	VAR_004573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004573	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	382	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	VAR_004573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004573	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	444	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	VAR_004573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004573	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	464	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	VAR_004573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004573	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	323	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	VAR_004573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004573	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	319	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	VAR_004573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004573	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	320	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	VAR_004573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004573	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	401	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	VAR_004573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004573	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	312	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	VAR_004573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004573	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	480	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg403Leu	VAR_004573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004573	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	364	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	VAR_004574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004574	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	315	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	VAR_004574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004574	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	353	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	VAR_004574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004574	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	424	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	VAR_004574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004574	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	591	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	VAR_004574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004574	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	314	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	VAR_004574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004574	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	388	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	VAR_004574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004574	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	382	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	VAR_004574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004574	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	444	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	VAR_004574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004574	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	464	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	VAR_004574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004574	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	323	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	VAR_004574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004574	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	319	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	VAR_004574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004574	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	320	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	VAR_004574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004574	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	401	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	VAR_004574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004574	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	312	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	VAR_004574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004574	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	480	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg403Gln	VAR_004574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004574	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	364	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	VAR_004575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004575	rs3218714 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	315	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	VAR_004575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004575	rs3218714 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	353	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	VAR_004575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004575	rs3218714 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	424	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	VAR_004575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004575	rs3218714 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	591	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	VAR_004575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004575	rs3218714 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	314	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	VAR_004575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004575	rs3218714 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	388	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	VAR_004575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004575	rs3218714 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	382	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	VAR_004575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004575	rs3218714 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	444	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	VAR_004575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004575	rs3218714 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	464	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	VAR_004575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004575	rs3218714 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	323	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	VAR_004575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004575	rs3218714 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	319	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	VAR_004575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004575	rs3218714 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	320	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	VAR_004575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004575	rs3218714 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	401	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	VAR_004575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004575	rs3218714 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	312	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	VAR_004575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004575	rs3218714 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	480	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg403Trp	VAR_004575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004575	rs3218714 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	364	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Val404Leu	VAR_042778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042778	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	316	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Val404Leu	VAR_042778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042778	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	354	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Val404Leu	VAR_042778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042778	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	425	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Val404Leu	VAR_042778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042778	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	592	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Val404Leu	VAR_042778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042778	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	315	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Val404Leu	VAR_042778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042778	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	389	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Val404Leu	VAR_042778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042778	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	383	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Val404Leu	VAR_042778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042778	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	445	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Val404Leu	VAR_042778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042778	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	465	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Val404Leu	VAR_042778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042778	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	324	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Val404Leu	VAR_042778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042778	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	320	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Val404Leu	VAR_042778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042778	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	321	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Val404Leu	VAR_042778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042778	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	402	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Val404Leu	VAR_042778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042778	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	313	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Val404Leu	VAR_042778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042778	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	481	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Val404Leu	VAR_042778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042778	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	365	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Val404Met	VAR_042779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042779	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	316	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Val404Met	VAR_042779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042779	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	354	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Val404Met	VAR_042779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042779	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	425	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Val404Met	VAR_042779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042779	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	592	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Val404Met	VAR_042779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042779	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	315	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Val404Met	VAR_042779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042779	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	389	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Val404Met	VAR_042779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042779	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	383	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Val404Met	VAR_042779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042779	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	445	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Val404Met	VAR_042779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042779	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	465	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Val404Met	VAR_042779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042779	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	324	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Val404Met	VAR_042779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042779	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	320	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Val404Met	VAR_042779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042779	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	321	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Val404Met	VAR_042779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042779	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	402	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Val404Met	VAR_042779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042779	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	313	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Val404Met	VAR_042779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042779	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	481	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Val404Met	VAR_042779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042779	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	365	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Val406Met	VAR_020805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020805	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	318	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Val406Met	VAR_020805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020805	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	356	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Val406Met	VAR_020805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020805	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	427	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Val406Met	VAR_020805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020805	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	598	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Val406Met	VAR_020805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020805	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	317	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Val406Met	VAR_020805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020805	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	391	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Val406Met	VAR_020805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020805	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	385	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Val406Met	VAR_020805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020805	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	448	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Val406Met	VAR_020805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020805	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	467	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Val406Met	VAR_020805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020805	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	326	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Val406Met	VAR_020805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020805	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	322	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Val406Met	VAR_020805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020805	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	323	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Val406Met	VAR_020805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020805	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	404	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Val406Met	VAR_020805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020805	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	315	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Val406Met	VAR_020805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020805	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	483	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Val406Met	VAR_020805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020805	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	367	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Gly407Val	VAR_042780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042780	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	319	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Gly407Val	VAR_042780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042780	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	357	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Gly407Val	VAR_042780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042780	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	428	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gly407Val	VAR_042780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042780	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	599	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Gly407Val	VAR_042780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042780	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	318	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Gly407Val	VAR_042780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042780	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	392	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Gly407Val	VAR_042780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042780	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	386	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Gly407Val	VAR_042780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042780	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	449	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Gly407Val	VAR_042780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042780	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	468	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Gly407Val	VAR_042780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042780	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	327	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Gly407Val	VAR_042780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042780	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	323	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Gly407Val	VAR_042780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042780	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	324	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Gly407Val	VAR_042780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042780	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	405	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Gly407Val	VAR_042780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042780	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	316	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Gly407Val	VAR_042780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042780	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	484	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Gly407Val	VAR_042780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042780	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	368	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Val411Ile	VAR_029432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029432	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	323	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Val411Ile	VAR_029432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029432	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	361	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Val411Ile	VAR_029432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029432	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	437	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Val411Ile	VAR_029432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029432	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	615	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Val411Ile	VAR_029432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029432	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	322	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Val411Ile	VAR_029432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029432	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	396	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Val411Ile	VAR_029432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029432	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	398	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Val411Ile	VAR_029432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029432	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	461	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Val411Ile	VAR_029432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029432	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	480	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Val411Ile	VAR_029432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029432	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	331	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Val411Ile	VAR_029432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029432	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	327	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Val411Ile	VAR_029432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029432	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	328	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Val411Ile	VAR_029432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029432	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	409	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Val411Ile	VAR_029432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029432	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	320	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Val411Ile	VAR_029432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029432	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	501	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Val411Ile	VAR_029432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029432	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	372	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Thr412Asn	VAR_042781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042781	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	324	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Thr412Asn	VAR_042781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042781	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	362	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Thr412Asn	VAR_042781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042781	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	438	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Thr412Asn	VAR_042781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042781	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	616	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Thr412Asn	VAR_042781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042781	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	323	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Thr412Asn	VAR_042781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042781	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	397	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Thr412Asn	VAR_042781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042781	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	399	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Thr412Asn	VAR_042781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042781	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	462	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Thr412Asn	VAR_042781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042781	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	481	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Thr412Asn	VAR_042781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042781	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	332	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Thr412Asn	VAR_042781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042781	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	328	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Thr412Asn	VAR_042781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042781	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	329	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Thr412Asn	VAR_042781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042781	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	410	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Thr412Asn	VAR_042781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042781	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	321	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Thr412Asn	VAR_042781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042781	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	502	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Thr412Asn	VAR_042781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042781	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	373	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Gly425Arg	VAR_042782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042782	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	337	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Gly425Arg	VAR_042782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042782	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	375	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Gly425Arg	VAR_042782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042782	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	451	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gly425Arg	VAR_042782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042782	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	629	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Gly425Arg	VAR_042782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042782	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	336	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Gly425Arg	VAR_042782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042782	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	410	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Gly425Arg	VAR_042782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042782	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	412	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Gly425Arg	VAR_042782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042782	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	475	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Gly425Arg	VAR_042782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042782	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	494	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Gly425Arg	VAR_042782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042782	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	345	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Gly425Arg	VAR_042782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042782	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	341	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Gly425Arg	VAR_042782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042782	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	346	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Gly425Arg	VAR_042782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042782	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	429	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Gly425Arg	VAR_042782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042782	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	334	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Gly425Arg	VAR_042782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042782	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	515	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Gly425Arg	VAR_042782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042782	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	386	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ala428Val	VAR_019850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019850	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	340	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ala428Val	VAR_019850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019850	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	378	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ala428Val	VAR_019850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019850	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	454	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ala428Val	VAR_019850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019850	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	632	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ala428Val	VAR_019850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019850	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	339	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ala428Val	VAR_019850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019850	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	413	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Ala428Val	VAR_019850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019850	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	415	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ala428Val	VAR_019850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019850	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	478	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ala428Val	VAR_019850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019850	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	497	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ala428Val	VAR_019850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019850	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	348	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ala428Val	VAR_019850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019850	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	344	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ala428Val	VAR_019850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019850	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	359	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ala428Val	VAR_019850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019850	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	432	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ala428Val	VAR_019850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019850	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	337	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ala428Val	VAR_019850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019850	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	518	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ala428Val	VAR_019850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019850	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	389	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ala430Glu	VAR_029433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029433	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	342	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ala430Glu	VAR_029433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029433	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	380	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ala430Glu	VAR_029433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029433	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	456	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ala430Glu	VAR_029433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029433	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	634	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ala430Glu	VAR_029433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029433	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	341	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ala430Glu	VAR_029433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029433	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	415	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Ala430Glu	VAR_029433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029433	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	417	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ala430Glu	VAR_029433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029433	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	480	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ala430Glu	VAR_029433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029433	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	499	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ala430Glu	VAR_029433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029433	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	350	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ala430Glu	VAR_029433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029433	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	346	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ala430Glu	VAR_029433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029433	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	361	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ala430Glu	VAR_029433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029433	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	434	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ala430Glu	VAR_029433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029433	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	339	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ala430Glu	VAR_029433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029433	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	520	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ala430Glu	VAR_029433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029433	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	391	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Met435Thr	VAR_042783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042783	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	347	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Met435Thr	VAR_042783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042783	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	385	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Met435Thr	VAR_042783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042783	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	461	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Met435Thr	VAR_042783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042783	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	639	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Met435Thr	VAR_042783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042783	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	346	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Met435Thr	VAR_042783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042783	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	420	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Met435Thr	VAR_042783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042783	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	422	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Met435Thr	VAR_042783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042783	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	485	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Met435Thr	VAR_042783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042783	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	504	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Met435Thr	VAR_042783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042783	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	355	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Met435Thr	VAR_042783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042783	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	351	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Met435Thr	VAR_042783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042783	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	366	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Met435Thr	VAR_042783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042783	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	439	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Met435Thr	VAR_042783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042783	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	344	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Met435Thr	VAR_042783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042783	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	525	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Met435Thr	VAR_042783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042783	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	396	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Val440Met	VAR_042784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042784	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	352	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Val440Met	VAR_042784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042784	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	390	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Val440Met	VAR_042784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042784	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	466	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Val440Met	VAR_042784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042784	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	644	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Val440Met	VAR_042784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042784	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	351	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Val440Met	VAR_042784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042784	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	425	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Val440Met	VAR_042784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042784	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	427	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Val440Met	VAR_042784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042784	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	490	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Val440Met	VAR_042784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042784	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	509	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Val440Met	VAR_042784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042784	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	360	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Val440Met	VAR_042784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042784	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	356	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Val440Met	VAR_042784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042784	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	371	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Val440Met	VAR_042784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042784	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	444	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Val440Met	VAR_042784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042784	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	349	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Val440Met	VAR_042784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042784	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	530	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Val440Met	VAR_042784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042784	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	401	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	VAR_042785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042785	- Myopathy distal type 1 (MPD1) [MIM:160500]	SWISS	353	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	VAR_042785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042785	- Myopathy distal type 1 (MPD1) [MIM:160500]	SWISS	391	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	VAR_042785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042785	- Myopathy distal type 1 (MPD1) [MIM:160500]	SWISS	467	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	VAR_042785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042785	- Myopathy distal type 1 (MPD1) [MIM:160500]	SWISS	645	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	VAR_042785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042785	- Myopathy distal type 1 (MPD1) [MIM:160500]	SWISS	352	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	VAR_042785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042785	- Myopathy distal type 1 (MPD1) [MIM:160500]	SWISS	426	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	VAR_042785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042785	- Myopathy distal type 1 (MPD1) [MIM:160500]	SWISS	428	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	VAR_042785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042785	- Myopathy distal type 1 (MPD1) [MIM:160500]	SWISS	491	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	VAR_042785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042785	- Myopathy distal type 1 (MPD1) [MIM:160500]	SWISS	510	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	VAR_042785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042785	- Myopathy distal type 1 (MPD1) [MIM:160500]	SWISS	361	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	VAR_042785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042785	- Myopathy distal type 1 (MPD1) [MIM:160500]	SWISS	357	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	VAR_042785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042785	- Myopathy distal type 1 (MPD1) [MIM:160500]	SWISS	372	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	VAR_042785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042785	- Myopathy distal type 1 (MPD1) [MIM:160500]	SWISS	445	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	VAR_042785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042785	- Myopathy distal type 1 (MPD1) [MIM:160500]	SWISS	350	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	VAR_042785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042785	- Myopathy distal type 1 (MPD1) [MIM:160500]	SWISS	531	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Thr441Met	VAR_042785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042785	- Myopathy distal type 1 (MPD1) [MIM:160500]	SWISS	402	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ile443Thr	VAR_019851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019851	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	355	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ile443Thr	VAR_019851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019851	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	393	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ile443Thr	VAR_019851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019851	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	469	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ile443Thr	VAR_019851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019851	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	647	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ile443Thr	VAR_019851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019851	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	354	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ile443Thr	VAR_019851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019851	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	428	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Ile443Thr	VAR_019851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019851	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	430	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ile443Thr	VAR_019851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019851	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	493	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ile443Thr	VAR_019851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019851	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	512	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ile443Thr	VAR_019851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019851	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	363	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ile443Thr	VAR_019851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019851	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	359	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ile443Thr	VAR_019851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019851	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	374	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ile443Thr	VAR_019851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019851	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	447	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ile443Thr	VAR_019851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019851	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	352	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ile443Thr	VAR_019851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019851	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	533	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ile443Thr	VAR_019851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019851	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	404	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Lys450Glu	VAR_042786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042786	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	364	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Lys450Glu	VAR_042786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042786	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	400	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Lys450Glu	VAR_042786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042786	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	476	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Lys450Glu	VAR_042786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042786	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	665	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Lys450Glu	VAR_042786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042786	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	361	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Lys450Glu	VAR_042786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042786	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	435	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Lys450Glu	VAR_042786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042786	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	437	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Lys450Glu	VAR_042786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042786	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	500	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Lys450Glu	VAR_042786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042786	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	519	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Lys450Glu	VAR_042786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042786	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	371	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Lys450Glu	VAR_042786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042786	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	366	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Lys450Glu	VAR_042786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042786	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	381	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Lys450Glu	VAR_042786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042786	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	454	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Lys450Glu	VAR_042786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042786	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	359	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Lys450Glu	VAR_042786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042786	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	540	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Lys450Glu	VAR_042786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042786	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	411	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Lys450Thr	VAR_042787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042787	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	364	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Lys450Thr	VAR_042787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042787	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	400	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Lys450Thr	VAR_042787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042787	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	476	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Lys450Thr	VAR_042787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042787	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	665	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Lys450Thr	VAR_042787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042787	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	361	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Lys450Thr	VAR_042787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042787	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	435	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Lys450Thr	VAR_042787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042787	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	437	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Lys450Thr	VAR_042787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042787	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	500	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Lys450Thr	VAR_042787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042787	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	519	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Lys450Thr	VAR_042787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042787	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	371	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Lys450Thr	VAR_042787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042787	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	366	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Lys450Thr	VAR_042787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042787	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	381	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Lys450Thr	VAR_042787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042787	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	454	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Lys450Thr	VAR_042787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042787	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	359	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Lys450Thr	VAR_042787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042787	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	540	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Lys450Thr	VAR_042787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042787	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	411	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	VAR_004576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004576	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	366	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	VAR_004576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004576	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	430	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	VAR_004576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004576	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	484	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	VAR_004576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004576	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	678	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	VAR_004576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004576	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	364	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	VAR_004576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004576	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	438	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	VAR_004576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004576	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	451	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	VAR_004576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004576	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	541	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	VAR_004576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004576	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	528	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	VAR_004576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004576	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	378	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	VAR_004576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004576	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	414	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	VAR_004576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004576	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	384	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	VAR_004576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004576	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	456_G	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	VAR_004576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004576	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	367	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	VAR_004576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004576	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	590	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg453Cys	VAR_004576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004576	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	423	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg453His	VAR_042788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042788	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	366	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg453His	VAR_042788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042788	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	430	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg453His	VAR_042788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042788	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	484	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg453His	VAR_042788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042788	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	678	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg453His	VAR_042788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042788	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	364	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg453His	VAR_042788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042788	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	438	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg453His	VAR_042788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042788	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	451	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg453His	VAR_042788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042788	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	541	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg453His	VAR_042788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042788	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	528	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg453His	VAR_042788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042788	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	378	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg453His	VAR_042788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042788	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	414	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg453His	VAR_042788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042788	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	384	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg453His	VAR_042788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042788	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	456_G	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg453His	VAR_042788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042788	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	367	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg453His	VAR_042788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042788	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	590	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg453His	VAR_042788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042788	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	423	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Asn479Ser	VAR_019852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019852	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	392	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Asn479Ser	VAR_019852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019852	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	456	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Asn479Ser	VAR_019852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019852	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	510	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Asn479Ser	VAR_019852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019852	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	772	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Asn479Ser	VAR_019852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019852	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	391	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Asn479Ser	VAR_019852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019852	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	464	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Asn479Ser	VAR_019852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019852	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	477	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Asn479Ser	VAR_019852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019852	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	569	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Asn479Ser	VAR_019852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019852	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	554	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Asn479Ser	VAR_019852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019852	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	406	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Asn479Ser	VAR_019852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019852	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	440	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Asn479Ser	VAR_019852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019852	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	419	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Asn479Ser	VAR_019852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019852	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	482	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Asn479Ser	VAR_019852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019852	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	393	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Asn479Ser	VAR_019852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019852	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	618	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Asn479Ser	VAR_019852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019852	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	449	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	VAR_019853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019853	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	396	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	VAR_019853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019853	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	460	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	VAR_019853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019853	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	514	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	VAR_019853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019853	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	776	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	VAR_019853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019853	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	395	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	VAR_019853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019853	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	468	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	VAR_019853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019853	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	481	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	VAR_019853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019853	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	573	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	VAR_019853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019853	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	558	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	VAR_019853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019853	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	410	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	VAR_019853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019853	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	444	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	VAR_019853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019853	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	423	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	VAR_019853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019853	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	486	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	VAR_019853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019853	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	397	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	VAR_019853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019853	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	622	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Glu483Lys	VAR_019853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019853	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	453	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Glu499Lys	VAR_020806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020806	rs3218715 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	412	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Glu499Lys	VAR_020806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020806	rs3218715 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	476	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Glu499Lys	VAR_020806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020806	rs3218715 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	530	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu499Lys	VAR_020806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020806	rs3218715 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	792	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Glu499Lys	VAR_020806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020806	rs3218715 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	411	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Glu499Lys	VAR_020806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020806	rs3218715 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	484	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Glu499Lys	VAR_020806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020806	rs3218715 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	497	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Glu499Lys	VAR_020806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020806	rs3218715 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	589	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Glu499Lys	VAR_020806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020806	rs3218715 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	574	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Glu499Lys	VAR_020806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020806	rs3218715 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	426	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Glu499Lys	VAR_020806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020806	rs3218715 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	460	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Glu499Lys	VAR_020806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020806	rs3218715 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	439	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Glu499Lys	VAR_020806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020806	rs3218715 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	502	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Glu499Lys	VAR_020806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020806	rs3218715 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	413	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Glu499Lys	VAR_020806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020806	rs3218715 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	638	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Glu499Lys	VAR_020806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020806	rs3218715 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	469	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Glu500Ala	VAR_042789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042789	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	413	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Glu500Ala	VAR_042789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042789	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	477	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Glu500Ala	VAR_042789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042789	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	531	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu500Ala	VAR_042789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042789	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	793	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Glu500Ala	VAR_042789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042789	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	412	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Glu500Ala	VAR_042789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042789	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	485	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Glu500Ala	VAR_042789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042789	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	498	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Glu500Ala	VAR_042789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042789	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	590	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Glu500Ala	VAR_042789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042789	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	575	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Glu500Ala	VAR_042789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042789	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	427	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Glu500Ala	VAR_042789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042789	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	461	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Glu500Ala	VAR_042789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042789	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	440	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Glu500Ala	VAR_042789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042789	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	503	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Glu500Ala	VAR_042789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042789	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	414	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Glu500Ala	VAR_042789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042789	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	639	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Glu500Ala	VAR_042789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042789	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	470	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Tyr501Cys	VAR_042790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042790	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	414	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Tyr501Cys	VAR_042790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042790	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	478	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Tyr501Cys	VAR_042790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042790	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	532	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Tyr501Cys	VAR_042790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042790	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	794	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Tyr501Cys	VAR_042790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042790	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	413	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Tyr501Cys	VAR_042790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042790	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	486	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Tyr501Cys	VAR_042790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042790	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	499	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Tyr501Cys	VAR_042790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042790	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	591	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Tyr501Cys	VAR_042790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042790	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	576	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Tyr501Cys	VAR_042790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042790	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	428	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Tyr501Cys	VAR_042790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042790	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	462	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Tyr501Cys	VAR_042790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042790	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	441	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Tyr501Cys	VAR_042790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042790	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	504	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Tyr501Cys	VAR_042790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042790	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	415	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Tyr501Cys	VAR_042790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042790	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	640	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Tyr501Cys	VAR_042790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042790	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	471	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ile511Phe	VAR_042791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042791	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	424	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ile511Phe	VAR_042791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042791	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	488	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ile511Phe	VAR_042791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042791	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	542	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ile511Phe	VAR_042791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042791	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	804	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ile511Phe	VAR_042791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042791	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	423	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ile511Phe	VAR_042791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042791	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	496	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Ile511Phe	VAR_042791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042791	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	509	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ile511Phe	VAR_042791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042791	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	601	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ile511Phe	VAR_042791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042791	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	586	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ile511Phe	VAR_042791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042791	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	438	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ile511Phe	VAR_042791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042791	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	472	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ile511Phe	VAR_042791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042791	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	451	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ile511Phe	VAR_042791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042791	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	514	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ile511Phe	VAR_042791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042791	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	425	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ile511Phe	VAR_042791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042791	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	651	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ile511Phe	VAR_042791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042791	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	481	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ile511Thr	VAR_042792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042792	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	424	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ile511Thr	VAR_042792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042792	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	488	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ile511Thr	VAR_042792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042792	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	542	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ile511Thr	VAR_042792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042792	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	804	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ile511Thr	VAR_042792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042792	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	423	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ile511Thr	VAR_042792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042792	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	496	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Ile511Thr	VAR_042792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042792	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	509	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ile511Thr	VAR_042792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042792	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	601	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ile511Thr	VAR_042792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042792	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	586	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ile511Thr	VAR_042792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042792	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	438	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ile511Thr	VAR_042792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042792	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	472	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ile511Thr	VAR_042792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042792	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	451	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ile511Thr	VAR_042792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042792	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	514	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ile511Thr	VAR_042792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042792	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	425	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ile511Thr	VAR_042792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042792	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	651	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ile511Thr	VAR_042792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042792	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	481	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	VAR_004577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004577	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	426	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	VAR_004577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004577	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	490	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	VAR_004577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004577	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	544	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	VAR_004577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004577	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	806	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	VAR_004577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004577	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	425	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	VAR_004577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004577	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	498	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	VAR_004577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004577	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	511	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	VAR_004577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004577	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	603	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	VAR_004577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004577	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	588	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	VAR_004577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004577	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	440	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	VAR_004577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004577	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	474	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	VAR_004577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004577	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	453	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	VAR_004577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004577	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	516	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	VAR_004577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004577	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	427	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	VAR_004577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004577	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	653	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Phe513Cys	VAR_004577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004577	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	483	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Met515Arg	VAR_042793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042793	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	427	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Met515Arg	VAR_042793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042793	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	491	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Met515Arg	VAR_042793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042793	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	546	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Met515Arg	VAR_042793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042793	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	809	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Met515Arg	VAR_042793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042793	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	426	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Met515Arg	VAR_042793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042793	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	500	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Met515Arg	VAR_042793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042793	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	513	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Met515Arg	VAR_042793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042793	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	605	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Met515Arg	VAR_042793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042793	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	589	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Met515Arg	VAR_042793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042793	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	441	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Met515Arg	VAR_042793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042793	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	475	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Met515Arg	VAR_042793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042793	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	455	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Met515Arg	VAR_042793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042793	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	517	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Met515Arg	VAR_042793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042793	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	428	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Met515Arg	VAR_042793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042793	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	655	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Met515Arg	VAR_042793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042793	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	484	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Met515Val	VAR_039562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039562	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	427	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Met515Val	VAR_039562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039562	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	491	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Met515Val	VAR_039562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039562	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	546	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Met515Val	VAR_039562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039562	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	809	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Met515Val	VAR_039562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039562	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	426	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Met515Val	VAR_039562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039562	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	500	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Met515Val	VAR_039562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039562	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	513	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Met515Val	VAR_039562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039562	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	605	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Met515Val	VAR_039562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039562	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	589	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Met515Val	VAR_039562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039562	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	441	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Met515Val	VAR_039562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039562	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	475	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Met515Val	VAR_039562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039562	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	455	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Met515Val	VAR_039562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039562	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	517	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Met515Val	VAR_039562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039562	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	428	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Met515Val	VAR_039562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039562	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	655	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Met515Val	VAR_039562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039562	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	484	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Leu517Met	VAR_029435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029435	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	429	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Leu517Met	VAR_029435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029435	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	493	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Leu517Met	VAR_029435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029435	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	548	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Leu517Met	VAR_029435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029435	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	811	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Leu517Met	VAR_029435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029435	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	428	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Leu517Met	VAR_029435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029435	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	502	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Leu517Met	VAR_029435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029435	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	515	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Leu517Met	VAR_029435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029435	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	607	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Leu517Met	VAR_029435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029435	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	591	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Leu517Met	VAR_029435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029435	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	443	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Leu517Met	VAR_029435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029435	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	477	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Leu517Met	VAR_029435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029435	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	470	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Leu517Met	VAR_029435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029435	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	519	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Leu517Met	VAR_029435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029435	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	430	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Leu517Met	VAR_029435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029435	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	658	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Leu517Met	VAR_029435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029435	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	486	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	VAR_017747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017747	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	445	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	VAR_017747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017747	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	513	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	VAR_017747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017747	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	566	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	VAR_017747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017747	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	879	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	VAR_017747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017747	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	444	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	VAR_017747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017747	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	517	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	VAR_017747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017747	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	533	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	VAR_017747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017747	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	626	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	VAR_017747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017747	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	609	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	VAR_017747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017747	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	467	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	VAR_017747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017747	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	493	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	VAR_017747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017747	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	500	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	VAR_017747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017747	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	535	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	VAR_017747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017747	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	446	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	VAR_017747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017747	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	688	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ser532Pro	VAR_017747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017747	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	501	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ala550Val	VAR_042794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042794	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	463	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ala550Val	VAR_042794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042794	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	531	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ala550Val	VAR_042794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042794	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	584	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ala550Val	VAR_042794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042794	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	917	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ala550Val	VAR_042794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042794	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	462	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ala550Val	VAR_042794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042794	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	535	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Ala550Val	VAR_042794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042794	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	551	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ala550Val	VAR_042794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042794	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	648	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ala550Val	VAR_042794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042794	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	632	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ala550Val	VAR_042794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042794	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	485	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ala550Val	VAR_042794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042794	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	511	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ala550Val	VAR_042794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042794	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	547	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ala550Val	VAR_042794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042794	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	553	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ala550Val	VAR_042794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042794	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	464	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ala550Val	VAR_042794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042794	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	710	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ala550Val	VAR_042794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042794	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	519	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Gly571Arg	VAR_042795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042795	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	481	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Gly571Arg	VAR_042795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042795	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	549_G	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Gly571Arg	VAR_042795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042795	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	607	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gly571Arg	VAR_042795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042795	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	963	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Gly571Arg	VAR_042795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042795	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	476	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Gly571Arg	VAR_042795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042795	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	556	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Gly571Arg	VAR_042795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042795	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	589	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Gly571Arg	VAR_042795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042795	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	674	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Gly571Arg	VAR_042795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042795	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	659	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Gly571Arg	VAR_042795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042795	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	501_G	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Gly571Arg	VAR_042795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042795	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	528_G	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Gly571Arg	VAR_042795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042795	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	570	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Gly571Arg	VAR_042795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042795	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	571	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Gly571Arg	VAR_042795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042795	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	483_G	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Gly571Arg	VAR_042795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042795	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	762	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Gly571Arg	VAR_042795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042795	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	543	cd01380	115496169,NP_000248
4625	83304912	Disease	p.His576Arg	VAR_042796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042796	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	484_G	cd01387	115496169,NP_000248
4625	83304912	Disease	p.His576Arg	VAR_042796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042796	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	554	cd01384	115496169,NP_000248
4625	83304912	Disease	p.His576Arg	VAR_042796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042796	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	608_G	COG5022	115496169,NP_000248
4625	83304912	Disease	p.His576Arg	VAR_042796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042796	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	993	smart00242	115496169,NP_000248
4625	83304912	Disease	p.His576Arg	VAR_042796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042796	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	481	cd01383	115496169,NP_000248
4625	83304912	Disease	p.His576Arg	VAR_042796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042796	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	561	cd01363	115496169,NP_000248
4625	83304912	Disease	p.His576Arg	VAR_042796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042796	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	594	cd01377	115496169,NP_000248
4625	83304912	Disease	p.His576Arg	VAR_042796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042796	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	685	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.His576Arg	VAR_042796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042796	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	664	cd01378	115496169,NP_000248
4625	83304912	Disease	p.His576Arg	VAR_042796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042796	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	506	cd01385	115496169,NP_000248
4625	83304912	Disease	p.His576Arg	VAR_042796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042796	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	531	cd01379	115496169,NP_000248
4625	83304912	Disease	p.His576Arg	VAR_042796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042796	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	575	cd01386	115496169,NP_000248
4625	83304912	Disease	p.His576Arg	VAR_042796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042796	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	576	cd01382	115496169,NP_000248
4625	83304912	Disease	p.His576Arg	VAR_042796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042796	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	486	cd01381	115496169,NP_000248
4625	83304912	Disease	p.His576Arg	VAR_042796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042796	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	767	cd00124	115496169,NP_000248
4625	83304912	Disease	p.His576Arg	VAR_042796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042796	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	544_G	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	VAR_004578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004578	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	492	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	VAR_004578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004578	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	562	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	VAR_004578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004578	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	616	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	VAR_004578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004578	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1001	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	VAR_004578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004578	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	489	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	VAR_004578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004578	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	569	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	VAR_004578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004578	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	602	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	VAR_004578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004578	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	693	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	VAR_004578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004578	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	672	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	VAR_004578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004578	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	514	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	VAR_004578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004578	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	539	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	VAR_004578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004578	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	583	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	VAR_004578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004578	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	592	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	VAR_004578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004578	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	494	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	VAR_004578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004578	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	775	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Gly584Arg	VAR_004578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004578	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	552	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Gly584Ser	VAR_029436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029436	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	492	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Gly584Ser	VAR_029436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029436	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	562	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Gly584Ser	VAR_029436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029436	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	616	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gly584Ser	VAR_029436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029436	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1001	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Gly584Ser	VAR_029436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029436	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	489	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Gly584Ser	VAR_029436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029436	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	569	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Gly584Ser	VAR_029436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029436	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	602	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Gly584Ser	VAR_029436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029436	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	693	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Gly584Ser	VAR_029436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029436	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	672	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Gly584Ser	VAR_029436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029436	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	514	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Gly584Ser	VAR_029436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029436	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	539	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Gly584Ser	VAR_029436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029436	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	583	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Gly584Ser	VAR_029436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029436	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	592	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Gly584Ser	VAR_029436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029436	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	494	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Gly584Ser	VAR_029436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029436	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	775	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Gly584Ser	VAR_029436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029436	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	552	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Asp587Val	VAR_004579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004579	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	495	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Asp587Val	VAR_004579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004579	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	565	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Asp587Val	VAR_004579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004579	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	619	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Asp587Val	VAR_004579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004579	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1004	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Asp587Val	VAR_004579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004579	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	492	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Asp587Val	VAR_004579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004579	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	572	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Asp587Val	VAR_004579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004579	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	605	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Asp587Val	VAR_004579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004579	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	696	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Asp587Val	VAR_004579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004579	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	675	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Asp587Val	VAR_004579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004579	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	517	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Asp587Val	VAR_004579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004579	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	542	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Asp587Val	VAR_004579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004579	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	588	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Asp587Val	VAR_004579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004579	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	595	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Asp587Val	VAR_004579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004579	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	497	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Asp587Val	VAR_004579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004579	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	780	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Asp587Val	VAR_004579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004579	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	555	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Gln595Arg	VAR_020807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020807	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	503	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Gln595Arg	VAR_020807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020807	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	573	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Gln595Arg	VAR_020807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020807	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	627	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gln595Arg	VAR_020807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020807	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1012	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Gln595Arg	VAR_020807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020807	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	500	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Gln595Arg	VAR_020807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020807	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	580	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Gln595Arg	VAR_020807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020807	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	613	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Gln595Arg	VAR_020807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020807	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	704	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Gln595Arg	VAR_020807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020807	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	683	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Gln595Arg	VAR_020807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020807	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	525	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Gln595Arg	VAR_020807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020807	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	550	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Gln595Arg	VAR_020807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020807	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	596	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Gln595Arg	VAR_020807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020807	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	603	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Gln595Arg	VAR_020807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020807	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	505	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Gln595Arg	VAR_020807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020807	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	788	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Gln595Arg	VAR_020807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020807	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	563	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Leu601Val	VAR_020808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020808	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	509	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Leu601Val	VAR_020808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020808	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	579	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Leu601Val	VAR_020808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020808	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	633	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Leu601Val	VAR_020808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020808	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1018	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Leu601Val	VAR_020808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020808	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	506	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Leu601Val	VAR_020808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020808	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	586	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Leu601Val	VAR_020808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020808	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	619	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Leu601Val	VAR_020808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020808	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	710	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Leu601Val	VAR_020808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020808	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	689	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Leu601Val	VAR_020808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020808	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	531	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Leu601Val	VAR_020808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020808	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	556	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Leu601Val	VAR_020808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020808	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	603	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Leu601Val	VAR_020808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020808	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	609	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Leu601Val	VAR_020808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020808	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	511	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Leu601Val	VAR_020808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020808	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	794	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Leu601Val	VAR_020808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020808	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	569	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Asn602Ser	VAR_004580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004580	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	510	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Asn602Ser	VAR_004580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004580	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	580	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Asn602Ser	VAR_004580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004580	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	634	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Asn602Ser	VAR_004580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004580	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1019	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Asn602Ser	VAR_004580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004580	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	507	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Asn602Ser	VAR_004580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004580	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	587	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Asn602Ser	VAR_004580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004580	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	620	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Asn602Ser	VAR_004580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004580	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	711	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Asn602Ser	VAR_004580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004580	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	690	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Asn602Ser	VAR_004580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004580	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	532	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Asn602Ser	VAR_004580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004580	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	557	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Asn602Ser	VAR_004580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004580	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	604	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Asn602Ser	VAR_004580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004580	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	610	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Asn602Ser	VAR_004580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004580	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	512	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Asn602Ser	VAR_004580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004580	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	795	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Asn602Ser	VAR_004580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004580	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	570	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	VAR_004581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004581	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	514	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	VAR_004581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004581	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	584	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	VAR_004581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004581	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	638	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	VAR_004581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004581	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1023	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	VAR_004581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004581	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	511	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	VAR_004581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004581	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	591	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	VAR_004581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004581	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	624	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	VAR_004581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004581	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	715	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	VAR_004581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004581	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	694	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	VAR_004581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004581	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	536	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	VAR_004581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004581	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	561	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	VAR_004581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004581	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	608	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	VAR_004581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004581	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	614	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	VAR_004581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004581	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	516	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	VAR_004581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004581	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	799	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Val606Met	VAR_004581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004581	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	574	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Lys615Asn	VAR_004582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004582	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	523	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Lys615Asn	VAR_004582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004582	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	593	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Lys615Asn	VAR_004582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004582	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	647	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Lys615Asn	VAR_004582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004582	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1034	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Lys615Asn	VAR_004582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004582	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	520	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Lys615Asn	VAR_004582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004582	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	600	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Lys615Asn	VAR_004582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004582	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	633	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Lys615Asn	VAR_004582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004582	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	725	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Lys615Asn	VAR_004582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004582	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	703	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Lys615Asn	VAR_004582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004582	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	613	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Lys615Asn	VAR_004582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004582	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	570	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Lys615Asn	VAR_004582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004582	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	619	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Lys615Asn	VAR_004582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004582	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	623	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Lys615Asn	VAR_004582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004582	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	525	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Lys615Asn	VAR_004582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004582	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	808	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Lys615Asn	VAR_004582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004582	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	584	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Lys615Gln	VAR_042797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	523	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Lys615Gln	VAR_042797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	593	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Lys615Gln	VAR_042797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	647	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Lys615Gln	VAR_042797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1034	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Lys615Gln	VAR_042797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	520	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Lys615Gln	VAR_042797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	600	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Lys615Gln	VAR_042797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	633	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Lys615Gln	VAR_042797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	725	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Lys615Gln	VAR_042797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	703	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Lys615Gln	VAR_042797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	613	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Lys615Gln	VAR_042797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	570	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Lys615Gln	VAR_042797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	619	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Lys615Gln	VAR_042797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	623	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Lys615Gln	VAR_042797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	525	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Lys615Gln	VAR_042797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	808	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Lys615Gln	VAR_042797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042797	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	584	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	VAR_017748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017748	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	555	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	VAR_017748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017748	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	633	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	VAR_017748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017748	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	686	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	VAR_017748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017748	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	1265	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	VAR_017748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017748	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	549	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	VAR_017748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017748	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	627	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	VAR_017748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017748	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	674	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	VAR_017748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017748	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	808	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	VAR_017748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017748	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	748	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	VAR_017748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017748	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	676	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	VAR_017748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017748	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	887	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	VAR_017748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017748	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	648	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	VAR_017748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017748	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	647	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	VAR_017748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017748	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	550_G	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	VAR_017748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017748	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	961	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ser642Leu	VAR_017748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017748	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	634	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Met659Ile	VAR_019854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019854	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	572	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Met659Ile	VAR_019854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019854	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	651	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Met659Ile	VAR_019854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019854	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	703	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Met659Ile	VAR_019854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019854	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1312	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Met659Ile	VAR_019854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019854	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	566	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Met659Ile	VAR_019854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019854	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	644	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Met659Ile	VAR_019854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019854	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	691	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Met659Ile	VAR_019854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019854	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	826	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Met659Ile	VAR_019854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019854	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	765	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Met659Ile	VAR_019854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019854	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	715	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Met659Ile	VAR_019854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019854	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	904	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Met659Ile	VAR_019854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019854	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	686	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Met659Ile	VAR_019854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019854	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	665	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Met659Ile	VAR_019854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019854	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	564	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Met659Ile	VAR_019854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019854	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	981	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Met659Ile	VAR_019854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019854	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	651	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg663Cys	VAR_042798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	576	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg663Cys	VAR_042798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	655	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg663Cys	VAR_042798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	707	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg663Cys	VAR_042798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1336	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg663Cys	VAR_042798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	570	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg663Cys	VAR_042798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	648	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg663Cys	VAR_042798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	695	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg663Cys	VAR_042798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	830	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg663Cys	VAR_042798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	769	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg663Cys	VAR_042798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	719	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg663Cys	VAR_042798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	908	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg663Cys	VAR_042798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	690	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg663Cys	VAR_042798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	669	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg663Cys	VAR_042798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	568	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg663Cys	VAR_042798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	985	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg663Cys	VAR_042798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042798	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	655	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg663His	VAR_019855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019855	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	576	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg663His	VAR_019855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019855	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	655	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg663His	VAR_019855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019855	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	707	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg663His	VAR_019855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019855	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1336	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg663His	VAR_019855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019855	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	570	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg663His	VAR_019855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019855	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	648	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg663His	VAR_019855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019855	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	695	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg663His	VAR_019855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019855	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	830	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg663His	VAR_019855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019855	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	769	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg663His	VAR_019855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019855	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	719	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg663His	VAR_019855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019855	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	908	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg663His	VAR_019855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019855	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	690	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg663His	VAR_019855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019855	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	669	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg663His	VAR_019855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019855	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	568	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg663His	VAR_019855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019855	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	985	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg663His	VAR_019855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019855	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	655	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg663Ser	VAR_019856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019856	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	576	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg663Ser	VAR_019856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019856	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	655	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg663Ser	VAR_019856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019856	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	707	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg663Ser	VAR_019856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019856	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1336	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg663Ser	VAR_019856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019856	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	570	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg663Ser	VAR_019856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019856	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	648	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg663Ser	VAR_019856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019856	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	695	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg663Ser	VAR_019856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019856	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	830	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg663Ser	VAR_019856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019856	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	769	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg663Ser	VAR_019856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019856	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	719	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg663Ser	VAR_019856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019856	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	908	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg663Ser	VAR_019856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019856	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	690	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg663Ser	VAR_019856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019856	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	669	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg663Ser	VAR_019856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019856	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	568	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg663Ser	VAR_019856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019856	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	985	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg663Ser	VAR_019856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019856	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	655	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg671Cys	VAR_019857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019857	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	584	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg671Cys	VAR_019857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019857	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	663	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg671Cys	VAR_019857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019857	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	715	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg671Cys	VAR_019857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019857	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1344	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg671Cys	VAR_019857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019857	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	578	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg671Cys	VAR_019857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019857	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	694	cd01363	115496169,NP_000248
4625	83304912	Disease	p.Arg671Cys	VAR_019857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019857	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	703	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg671Cys	VAR_019857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019857	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	841	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg671Cys	VAR_019857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019857	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	777	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg671Cys	VAR_019857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019857	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	727	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg671Cys	VAR_019857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019857	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	916	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg671Cys	VAR_019857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019857	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	698	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg671Cys	VAR_019857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019857	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	678	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg671Cys	VAR_019857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019857	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	576	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg671Cys	VAR_019857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019857	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1005	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg671Cys	VAR_019857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019857	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	663	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg694Cys	VAR_020809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020809	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	607	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg694Cys	VAR_020809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020809	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	686	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg694Cys	VAR_020809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020809	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	738	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg694Cys	VAR_020809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020809	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1367	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg694Cys	VAR_020809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020809	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	601	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg694Cys	VAR_020809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020809	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	726	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg694Cys	VAR_020809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020809	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	864	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg694Cys	VAR_020809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020809	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	800	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg694Cys	VAR_020809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020809	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	750	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg694Cys	VAR_020809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020809	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	939	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg694Cys	VAR_020809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020809	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	752	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg694Cys	VAR_020809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020809	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	701	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg694Cys	VAR_020809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020809	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	599	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg694Cys	VAR_020809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020809	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1050	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg694Cys	VAR_020809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020809	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	686	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg694His	VAR_029437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029437	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	607	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg694His	VAR_029437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029437	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	686	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg694His	VAR_029437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029437	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	738	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg694His	VAR_029437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029437	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1367	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg694His	VAR_029437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029437	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	601	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg694His	VAR_029437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029437	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	726	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg694His	VAR_029437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029437	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	864	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg694His	VAR_029437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029437	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	800	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg694His	VAR_029437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029437	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	750	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg694His	VAR_029437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029437	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	939	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg694His	VAR_029437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029437	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	752	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg694His	VAR_029437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029437	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	701	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg694His	VAR_029437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029437	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	599	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg694His	VAR_029437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029437	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1050	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg694His	VAR_029437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029437	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	686	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Asn696Ser	VAR_020810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020810	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	609	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Asn696Ser	VAR_020810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020810	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	688	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Asn696Ser	VAR_020810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020810	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	740	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Asn696Ser	VAR_020810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020810	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1369	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Asn696Ser	VAR_020810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020810	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	603	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Asn696Ser	VAR_020810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020810	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	728	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Asn696Ser	VAR_020810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020810	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	866	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Asn696Ser	VAR_020810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020810	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	802	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Asn696Ser	VAR_020810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020810	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	752	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Asn696Ser	VAR_020810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020810	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	941	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Asn696Ser	VAR_020810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020810	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	754	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Asn696Ser	VAR_020810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020810	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	703	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Asn696Ser	VAR_020810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020810	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	601	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Asn696Ser	VAR_020810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020810	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1052	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Asn696Ser	VAR_020810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020810	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	688	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Val698Ala	VAR_042799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	611	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Val698Ala	VAR_042799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	690	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Val698Ala	VAR_042799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	742	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Val698Ala	VAR_042799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1371	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Val698Ala	VAR_042799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	605	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Val698Ala	VAR_042799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	730	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Val698Ala	VAR_042799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	871	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Val698Ala	VAR_042799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	804	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Val698Ala	VAR_042799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	754	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Val698Ala	VAR_042799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	943	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Val698Ala	VAR_042799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	756	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Val698Ala	VAR_042799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	705	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Val698Ala	VAR_042799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	603	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Val698Ala	VAR_042799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1054	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Val698Ala	VAR_042799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042799	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	690	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg712Leu	VAR_020811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020811	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	625	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg712Leu	VAR_020811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020811	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	704	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg712Leu	VAR_020811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020811	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	756	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg712Leu	VAR_020811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020811	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1386	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg712Leu	VAR_020811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020811	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	619	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg712Leu	VAR_020811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020811	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	744	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg712Leu	VAR_020811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020811	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	887	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg712Leu	VAR_020811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020811	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	818	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg712Leu	VAR_020811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020811	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	768	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg712Leu	VAR_020811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020811	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	957	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg712Leu	VAR_020811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020811	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	770	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg712Leu	VAR_020811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020811	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	878	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg712Leu	VAR_020811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020811	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	617	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg712Leu	VAR_020811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020811	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1074	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg712Leu	VAR_020811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020811	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	704	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	VAR_004583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004583	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	629	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	VAR_004583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004583	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	708	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	VAR_004583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004583	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	760	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	VAR_004583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004583	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1390	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	VAR_004583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004583	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	623	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	VAR_004583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004583	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	748	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	VAR_004583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004583	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	891	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	VAR_004583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004583	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	822	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	VAR_004583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004583	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	772	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	VAR_004583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004583	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	961	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	VAR_004583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004583	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	774	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	VAR_004583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004583	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	882	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	VAR_004583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004583	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	621	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	VAR_004583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004583	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1083	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Gly716Arg	VAR_004583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004583	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	708	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	VAR_017749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017749	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	632	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	VAR_017749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017749	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	711	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	VAR_017749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017749	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	763	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	VAR_017749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017749	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1393	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	VAR_017749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017749	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	626	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	VAR_017749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017749	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	751	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	VAR_017749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017749	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	894	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	VAR_017749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017749	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	825	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	VAR_017749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017749	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	775	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	VAR_017749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017749	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	964	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	VAR_017749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017749	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	777	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	VAR_017749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017749	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	885	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	VAR_017749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017749	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	624	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	VAR_017749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017749	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1086	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg719Gln	VAR_017749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017749	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	711	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	VAR_004584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004584	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	632	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	VAR_004584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004584	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	711	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	VAR_004584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004584	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	763	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	VAR_004584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004584	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1393	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	VAR_004584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004584	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	626	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	VAR_004584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004584	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	751	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	VAR_004584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004584	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	894	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	VAR_004584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004584	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	825	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	VAR_004584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004584	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	775	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	VAR_004584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004584	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	964	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	VAR_004584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004584	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	777	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	VAR_004584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004584	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	885	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	VAR_004584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004584	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	624	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	VAR_004584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004584	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1086	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg719Trp	VAR_004584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004584	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	711	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	VAR_004585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004585	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	636	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	VAR_004585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004585	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	715	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	VAR_004585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004585	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	767	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	VAR_004585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004585	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1397	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	VAR_004585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004585	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	630	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	VAR_004585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004585	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	755	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	VAR_004585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004585	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	898	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	VAR_004585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004585	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	829	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	VAR_004585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004585	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	779	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	VAR_004585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004585	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	968	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	VAR_004585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004585	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	781	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	VAR_004585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004585	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	889	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	VAR_004585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004585	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	628	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	VAR_004585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004585	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1090	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg723Cys	VAR_004585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004585	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	715	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Arg723Gly	VAR_020812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020812	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	636	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Arg723Gly	VAR_020812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020812	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	715	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Arg723Gly	VAR_020812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020812	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	767	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg723Gly	VAR_020812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020812	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1397	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Arg723Gly	VAR_020812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020812	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	630	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Arg723Gly	VAR_020812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020812	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	755	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Arg723Gly	VAR_020812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020812	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	898	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Arg723Gly	VAR_020812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020812	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	829	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Arg723Gly	VAR_020812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020812	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	779	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Arg723Gly	VAR_020812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020812	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	968	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg723Gly	VAR_020812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020812	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	781	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Arg723Gly	VAR_020812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020812	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	889	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Arg723Gly	VAR_020812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020812	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	628	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Arg723Gly	VAR_020812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020812	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1090	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Arg723Gly	VAR_020812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020812	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	715	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	VAR_017750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017750	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	641	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	VAR_017750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017750	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	720	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	VAR_017750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017750	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	772	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	VAR_017750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017750	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1416	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	VAR_017750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017750	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	635	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	VAR_017750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017750	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	760	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	VAR_017750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017750	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	903	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	VAR_017750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017750	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	834	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	VAR_017750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017750	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	781_G	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	VAR_017750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017750	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1038	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	VAR_017750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017750	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	788	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	VAR_017750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017750	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	893_G	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	VAR_017750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017750	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	633	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	VAR_017750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017750	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1099	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ala728Val	VAR_017750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017750	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	720	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Pro731Leu	VAR_004586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004586	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	644	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Pro731Leu	VAR_004586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004586	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	722_G	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Pro731Leu	VAR_004586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004586	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	775	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Pro731Leu	VAR_004586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004586	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1429	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Pro731Leu	VAR_004586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004586	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	637_G	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Pro731Leu	VAR_004586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004586	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	770	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Pro731Leu	VAR_004586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004586	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	906	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Pro731Leu	VAR_004586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004586	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	840	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Pro731Leu	VAR_004586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004586	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	783	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Pro731Leu	VAR_004586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004586	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1041	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Pro731Leu	VAR_004586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004586	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	795	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Pro731Leu	VAR_004586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004586	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	894	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Pro731Leu	VAR_004586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004586	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	636	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Pro731Leu	VAR_004586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004586	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1102	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Pro731Leu	VAR_004586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004586	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	730	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Gly733Glu	VAR_019858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019858	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	646	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Gly733Glu	VAR_019858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019858	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	724	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Gly733Glu	VAR_019858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019858	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	777	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gly733Glu	VAR_019858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019858	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1431	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Gly733Glu	VAR_019858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019858	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	637_G	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Gly733Glu	VAR_019858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019858	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	772	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Gly733Glu	VAR_019858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019858	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	908	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Gly733Glu	VAR_019858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019858	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	842	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Gly733Glu	VAR_019858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019858	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	785	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Gly733Glu	VAR_019858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019858	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1043	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Gly733Glu	VAR_019858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019858	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	797	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Gly733Glu	VAR_019858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019858	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	896	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Gly733Glu	VAR_019858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019858	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	638	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Gly733Glu	VAR_019858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019858	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1104	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Gly733Glu	VAR_019858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019858	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	732	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Gln734Glu	VAR_029438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029438	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	647	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Gln734Glu	VAR_029438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029438	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	725	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Gln734Glu	VAR_029438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029438	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	778	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gln734Glu	VAR_029438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029438	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1432	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Gln734Glu	VAR_029438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029438	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	637_G	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Gln734Glu	VAR_029438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029438	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	773	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Gln734Glu	VAR_029438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029438	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	916	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Gln734Glu	VAR_029438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029438	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	843	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Gln734Glu	VAR_029438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029438	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	786	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Gln734Glu	VAR_029438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029438	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1044	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Gln734Glu	VAR_029438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029438	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	798	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Gln734Glu	VAR_029438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029438	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	897	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Gln734Glu	VAR_029438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029438	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	639	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Gln734Glu	VAR_029438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029438	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1105	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Gln734Glu	VAR_029438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029438	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	733	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Gln734Pro	VAR_042800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	647	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Gln734Pro	VAR_042800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	725	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Gln734Pro	VAR_042800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	778	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gln734Pro	VAR_042800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1432	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Gln734Pro	VAR_042800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	637_G	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Gln734Pro	VAR_042800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	773	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Gln734Pro	VAR_042800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	916	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Gln734Pro	VAR_042800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	843	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Gln734Pro	VAR_042800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	786	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Gln734Pro	VAR_042800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1044	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Gln734Pro	VAR_042800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	798	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Gln734Pro	VAR_042800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	897	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Gln734Pro	VAR_042800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	639	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Gln734Pro	VAR_042800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1105	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Gln734Pro	VAR_042800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042800	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	733	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ile736Met	VAR_004587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004587	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	649	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ile736Met	VAR_004587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004587	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	727	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ile736Met	VAR_004587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004587	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	787	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ile736Met	VAR_004587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004587	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1434	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ile736Met	VAR_004587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004587	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	637_G	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ile736Met	VAR_004587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004587	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	775	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ile736Met	VAR_004587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004587	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	918	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ile736Met	VAR_004587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004587	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	845	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ile736Met	VAR_004587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004587	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	787	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ile736Met	VAR_004587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004587	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1046	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ile736Met	VAR_004587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004587	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	800	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ile736Met	VAR_004587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004587	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	899	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ile736Met	VAR_004587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004587	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	641	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ile736Met	VAR_004587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004587	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1107	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ile736Met	VAR_004587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004587	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	735	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ile736Thr	VAR_029439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029439	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	649	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ile736Thr	VAR_029439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029439	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	727	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ile736Thr	VAR_029439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029439	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	787	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ile736Thr	VAR_029439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029439	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1434	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ile736Thr	VAR_029439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029439	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	637_G	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ile736Thr	VAR_029439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029439	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	775	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ile736Thr	VAR_029439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029439	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	918	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ile736Thr	VAR_029439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029439	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	845	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ile736Thr	VAR_029439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029439	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	787	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ile736Thr	VAR_029439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029439	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1046	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ile736Thr	VAR_029439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029439	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	800	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ile736Thr	VAR_029439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029439	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	899	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ile736Thr	VAR_029439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029439	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	641	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ile736Thr	VAR_029439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029439	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1107	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ile736Thr	VAR_029439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029439	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	735	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	VAR_004588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004588	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	654	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	VAR_004588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004588	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	732	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	VAR_004588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004588	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	792	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	VAR_004588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004588	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1452	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	VAR_004588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004588	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	638	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	VAR_004588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004588	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	780	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	VAR_004588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004588	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	923	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	VAR_004588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004588	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	850	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	VAR_004588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004588	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	792	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	VAR_004588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004588	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1064	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	VAR_004588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004588	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	809	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	VAR_004588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004588	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	904	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	VAR_004588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004588	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	646	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	VAR_004588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004588	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1122	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Gly741Arg	VAR_004588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004588	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	740	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Gly741Trp	VAR_004589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004589	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	654	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Gly741Trp	VAR_004589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004589	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	732	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Gly741Trp	VAR_004589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004589	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	792	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gly741Trp	VAR_004589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004589	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1452	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Gly741Trp	VAR_004589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004589	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	638	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Gly741Trp	VAR_004589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004589	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	780	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Gly741Trp	VAR_004589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004589	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	923	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Gly741Trp	VAR_004589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004589	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	850	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Gly741Trp	VAR_004589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004589	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	792	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Gly741Trp	VAR_004589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004589	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1064	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Gly741Trp	VAR_004589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004589	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	809	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Gly741Trp	VAR_004589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004589	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	904	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Gly741Trp	VAR_004589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004589	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	646	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Gly741Trp	VAR_004589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004589	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1122	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Gly741Trp	VAR_004589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004589	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	740	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Ala742Glu	VAR_042801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	655	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Ala742Glu	VAR_042801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	777	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Ala742Glu	VAR_042801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	793	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ala742Glu	VAR_042801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1457	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Ala742Glu	VAR_042801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	639	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Ala742Glu	VAR_042801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	781	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Ala742Glu	VAR_042801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	924	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Ala742Glu	VAR_042801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	851	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Ala742Glu	VAR_042801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	794	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ala742Glu	VAR_042801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1065	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ala742Glu	VAR_042801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	810	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Ala742Glu	VAR_042801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	905	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Ala742Glu	VAR_042801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	647	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Ala742Glu	VAR_042801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1123	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Ala742Glu	VAR_042801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042801	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	741	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	VAR_014199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014199	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	656	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	VAR_014199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014199	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	778	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	VAR_014199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014199	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	794	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	VAR_014199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014199	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1467	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	VAR_014199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014199	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	640	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	VAR_014199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014199	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	782	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	VAR_014199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014199	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	925	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	VAR_014199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014199	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	852	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	VAR_014199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014199	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	795	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	VAR_014199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014199	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1066	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	VAR_014199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014199	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	811	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	VAR_014199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014199	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	906	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	VAR_014199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014199	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	648	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	VAR_014199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014199	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1124	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Glu743Asp	VAR_014199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014199	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	742	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Val763Gly	VAR_042802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	677	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Val763Gly	VAR_042802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	796	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Val763Gly	VAR_042802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	814	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Val763Gly	VAR_042802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1504	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Val763Gly	VAR_042802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	667	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Val763Gly	VAR_042802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	812	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Val763Gly	VAR_042802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	951	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Val763Gly	VAR_042802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	875	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Val763Gly	VAR_042802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	815	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Val763Gly	VAR_042802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1084	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Val763Gly	VAR_042802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	831	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Val763Gly	VAR_042802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	926	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Val763Gly	VAR_042802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	668	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Val763Gly	VAR_042802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1144	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Val763Gly	VAR_042802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042802	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	767	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Val763Met	VAR_045926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045926	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	677	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Val763Met	VAR_045926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045926	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	796	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Val763Met	VAR_045926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045926	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	814	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Val763Met	VAR_045926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045926	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1504	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Val763Met	VAR_045926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045926	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	667	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Val763Met	VAR_045926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045926	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	812	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Val763Met	VAR_045926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045926	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	951	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Val763Met	VAR_045926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045926	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	875	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Val763Met	VAR_045926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045926	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	815	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Val763Met	VAR_045926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045926	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1084	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Val763Met	VAR_045926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045926	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	831	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Val763Met	VAR_045926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045926	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	926	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Val763Met	VAR_045926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045926	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	668	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Val763Met	VAR_045926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045926	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1144	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Val763Met	VAR_045926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045926	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	767	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	VAR_017751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017751	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	678	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	VAR_017751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017751	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	797	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	VAR_017751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017751	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	815	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	VAR_017751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017751	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	1505	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	VAR_017751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017751	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	668	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	VAR_017751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017751	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	813	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	VAR_017751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017751	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	952	pfam00063	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	VAR_017751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017751	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	876	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	VAR_017751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017751	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	816	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	VAR_017751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017751	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	1085	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	VAR_017751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017751	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	832	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	VAR_017751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017751	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	927	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	VAR_017751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017751	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	669	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	VAR_017751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017751	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	1145	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Phe764Leu	VAR_017751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017751	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	768	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Gly768Arg	VAR_019859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019859	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	682	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Gly768Arg	VAR_019859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019859	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	801	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Gly768Arg	VAR_019859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019859	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	819	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gly768Arg	VAR_019859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019859	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1510	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Gly768Arg	VAR_019859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019859	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	672	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Gly768Arg	VAR_019859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019859	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	817	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Gly768Arg	VAR_019859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019859	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	881	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Gly768Arg	VAR_019859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019859	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	820	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Gly768Arg	VAR_019859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019859	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1089	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Gly768Arg	VAR_019859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019859	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	836	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Gly768Arg	VAR_019859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019859	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	931	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Gly768Arg	VAR_019859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019859	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	673	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Gly768Arg	VAR_019859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019859	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1157	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Gly768Arg	VAR_019859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019859	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	772	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Glu774Val	VAR_042803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	688	cd01387	115496169,NP_000248
4625	83304912	Disease	p.Glu774Val	VAR_042803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	807	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Glu774Val	VAR_042803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	826	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu774Val	VAR_042803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1516	smart00242	115496169,NP_000248
4625	83304912	Disease	p.Glu774Val	VAR_042803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	678	cd01383	115496169,NP_000248
4625	83304912	Disease	p.Glu774Val	VAR_042803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	823	cd01377	115496169,NP_000248
4625	83304912	Disease	p.Glu774Val	VAR_042803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	887	cd01378	115496169,NP_000248
4625	83304912	Disease	p.Glu774Val	VAR_042803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	821	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Glu774Val	VAR_042803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1095	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Glu774Val	VAR_042803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	842	cd01386	115496169,NP_000248
4625	83304912	Disease	p.Glu774Val	VAR_042803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	937	cd01382	115496169,NP_000248
4625	83304912	Disease	p.Glu774Val	VAR_042803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	679	cd01381	115496169,NP_000248
4625	83304912	Disease	p.Glu774Val	VAR_042803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1163	cd00124	115496169,NP_000248
4625	83304912	Disease	p.Glu774Val	VAR_042803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042803	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	778	cd01380	115496169,NP_000248
4625	83304912	Disease	p.Asp778Glu	VAR_019860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019860	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	811	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Asp778Glu	VAR_019860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019860	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	830	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Asp778Glu	VAR_019860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019860	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	826	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Asp778Glu	VAR_019860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019860	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1099	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Asp778Gly	VAR_004590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004590	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	811	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Asp778Gly	VAR_004590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004590	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	830	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Asp778Gly	VAR_004590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004590	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	826	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Asp778Gly	VAR_004590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004590	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1099	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Asp778Val	VAR_042804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042804	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	811	cd01384	115496169,NP_000248
4625	83304912	Disease	p.Asp778Val	VAR_042804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042804	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	830	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Asp778Val	VAR_042804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042804	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	826	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Asp778Val	VAR_042804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042804	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1099	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ser782Asn	VAR_020813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020813	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	834	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ser782Asn	VAR_020813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020813	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	3	smart00015	115496169,NP_000248
4625	83304912	Disease	p.Ser782Asn	VAR_020813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020813	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	830	cd01385	115496169,NP_000248
4625	83304912	Disease	p.Ser782Asn	VAR_020813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020813	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1103	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg787Cys	VAR_045927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045927	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	839	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg787Cys	VAR_045927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045927	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	8	smart00015	115496169,NP_000248
4625	83304912	Disease	p.Arg787Cys	VAR_045927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045927	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1107_G	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Arg787His	VAR_019861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019861	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	839	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg787His	VAR_019861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019861	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	8	smart00015	115496169,NP_000248
4625	83304912	Disease	p.Arg787His	VAR_019861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019861	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1107_G	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Leu796Phe	VAR_029440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029440	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	848	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Leu796Phe	VAR_029440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029440	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	17	smart00015	115496169,NP_000248
4625	83304912	Disease	p.Leu796Phe	VAR_029440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029440	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1116	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Ala797Thr	VAR_004591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004591	rs3218716 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	849	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ala797Thr	VAR_004591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004591	rs3218716 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	18	smart00015	115496169,NP_000248
4625	83304912	Disease	p.Ala797Thr	VAR_004591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004591	rs3218716 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1117	cd01379	115496169,NP_000248
4625	83304912	Disease	p.Met822Leu	VAR_042805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042805	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	875	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Met822Thr	VAR_042806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042806	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	875	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gly823Glu	VAR_042807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042807	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	876	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Val824Ile	VAR_029441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029441	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	877	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu846Gln	VAR_020814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020814	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	899	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Met852Thr	VAR_019862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019862	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	905	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg858Cys	VAR_039563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039563	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	911	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg858His	VAR_042809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042809	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	911	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg869Cys	VAR_020815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020815	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	922	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg869Gly	VAR_019863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019863	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	922	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg869His	VAR_042810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042810	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	922	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg870Cys	VAR_020816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020816	rs36211715 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	923	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg870His	VAR_004592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004592	rs36211715 Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	923	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Met877Lys	VAR_020817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020817	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	930	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gln882Glu	VAR_042811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042811	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	935	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu894Gly	VAR_042812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042812	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	947	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ala901Gly	VAR_042813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042813	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	954	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Cys905Phe	VAR_029442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029442	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	955_G	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Asp906Gly	VAR_042814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042814	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	955_G	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Leu908Val	VAR_004593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004593	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	956	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu921Lys	VAR_042815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042815	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	970	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu924Lys	VAR_004594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004594	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	973	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu924Gln	VAR_029443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029443	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	973	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu927Lys	VAR_042816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042816	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	976	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Asp928Asn	VAR_029444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029444	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	979	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu930Lys	VAR_004595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004595	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	981	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu931Lys	VAR_042817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042817	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	982	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu935Lys	VAR_004597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004597	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	991	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu949Lys	VAR_004598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004598	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1005	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Asp953His	VAR_042818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042818	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1009	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Thr1019Asn	VAR_042819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042819	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	1115	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gly1057Asp	VAR_042820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042820	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1157	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Gly1057Ser	VAR_042821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042821	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1157	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Leu1135Arg	VAR_019865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019865	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1232	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Leu1135Arg	VAR_019865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019865	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	68	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Arg1193Ser	VAR_042822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042822	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	1302	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg1193Ser	VAR_042822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042822	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	126	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Glu1218Gln	VAR_019866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019866	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1322	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu1218Gln	VAR_019866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019866	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	151	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Asn1327Lys	VAR_042823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042823	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1448	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Asn1327Lys	VAR_042823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042823	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	260	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Glu1356Lys	VAR_042824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042824	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1477	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu1356Lys	VAR_042824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042824	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	289	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Thr1377Met	VAR_019867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019867	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1504	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Thr1377Met	VAR_019867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019867	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	310	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Ala1379Thr	VAR_019868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019868	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1506	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ala1379Thr	VAR_019868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019868	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	312	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Arg1382Trp	VAR_019869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019869	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1509	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg1382Trp	VAR_019869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019869	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	315	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Leu1414Met	VAR_045928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045928	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1549	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Leu1414Met	VAR_045928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045928	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	347	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Arg1420Trp	VAR_042825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042825	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1557	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg1420Trp	VAR_042825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042825	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	353	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Glu1426Lys	VAR_042826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042826	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	1563	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu1426Lys	VAR_042826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042826	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	359	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Ala1454Thr	VAR_042827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042827	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1601	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Ala1454Thr	VAR_042827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042827	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	387	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Lys1459Asn	VAR_042828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042828	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1606	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Lys1459Asn	VAR_042828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042828	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	392	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Arg1500Pro	VAR_022369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022369	- Myopathy distal type 1 (MPD1) [MIM:160500]	SWISS	1657	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Arg1500Pro	VAR_022369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022369	- Myopathy distal type 1 (MPD1) [MIM:160500]	SWISS	433	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Thr1513Ser	VAR_042830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042830	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1673	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Thr1513Ser	VAR_042830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042830	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	446	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Glu1555Lys	VAR_020820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020820	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	1718	COG5022	115496169,NP_000248
4625	83304912	Disease	p.Glu1555Lys	VAR_020820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020820	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	488	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Arg1634Cys	VAR_042833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042833	- Cardiomyopathy dilated type 1S (CMD1S) [MIM:613426]	SWISS	568	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Ala1663Pro	VAR_022370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022370	- Myopathy distal type 1 (MPD1) [MIM:160500]	SWISS	597	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Leu1706Pro	VAR_022371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022371	- Myopathy distal type 1 (MPD1) [MIM:160500]	SWISS	640	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Arg1712Trp	VAR_042834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042834	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	646	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Glu1753Lys	VAR_042836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042836	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	687	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Glu1768Lys	VAR_042837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042837	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	702	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Ser1776Gly	VAR_020821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020821	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	710	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Ala1777Thr	VAR_019871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019871	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	711	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Arg1845Trp	VAR_017754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017754	rs28933098 Myosin storage myopathy [MIM:608358]	SWISS	779	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Arg1845Trp	VAR_017754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017754	rs28933098 Scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430]	SWISS	779	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Thr1854Met	VAR_042838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042838	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	788	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Glu1883Lys	VAR_042839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042839	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	817	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.His1901Leu	VAR_042840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042840	- Myosin storage myopathy [MIM:608358]	SWISS	835	pfam01576	115496169,NP_000248
4625	83304912	Disease	p.Thr1929Met	VAR_042842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042842	- Cardiomyopathy familial hypertrophic type 1 (CMH1) [MIM:192600]	SWISS	No Domain	N/A	115496169,NP_000248
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Carney complex variant [MIM:608837]	SWISS	694	cd01363	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Carney complex variant [MIM:608837]	SWISS	703	cd01377	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Carney complex variant [MIM:608837]	SWISS	715	COG5022	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Carney complex variant [MIM:608837]	SWISS	841	pfam00063	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Carney complex variant [MIM:608837]	SWISS	777	cd01378	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Carney complex variant [MIM:608837]	SWISS	678	cd01382	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Carney complex variant [MIM:608837]	SWISS	1344	smart00242	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Carney complex variant [MIM:608837]	SWISS	578	cd01383	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Carney complex variant [MIM:608837]	SWISS	663	cd01384	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Carney complex variant [MIM:608837]	SWISS	584	cd01387	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Carney complex variant [MIM:608837]	SWISS	576	cd01381	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Carney complex variant [MIM:608837]	SWISS	663	cd01380	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Carney complex variant [MIM:608837]	SWISS	1005	cd00124	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Carney complex variant [MIM:608837]	SWISS	698	cd01386	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Carney complex variant [MIM:608837]	SWISS	916	cd01379	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Carney complex variant [MIM:608837]	SWISS	727	cd01385	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Trismus-pseudocamptodactyly syndrome [MIM:158300]	SWISS	694	cd01363	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Trismus-pseudocamptodactyly syndrome [MIM:158300]	SWISS	703	cd01377	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Trismus-pseudocamptodactyly syndrome [MIM:158300]	SWISS	715	COG5022	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Trismus-pseudocamptodactyly syndrome [MIM:158300]	SWISS	841	pfam00063	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Trismus-pseudocamptodactyly syndrome [MIM:158300]	SWISS	777	cd01378	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Trismus-pseudocamptodactyly syndrome [MIM:158300]	SWISS	678	cd01382	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Trismus-pseudocamptodactyly syndrome [MIM:158300]	SWISS	1344	smart00242	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Trismus-pseudocamptodactyly syndrome [MIM:158300]	SWISS	578	cd01383	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Trismus-pseudocamptodactyly syndrome [MIM:158300]	SWISS	663	cd01384	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Trismus-pseudocamptodactyly syndrome [MIM:158300]	SWISS	584	cd01387	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Trismus-pseudocamptodactyly syndrome [MIM:158300]	SWISS	576	cd01381	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Trismus-pseudocamptodactyly syndrome [MIM:158300]	SWISS	663	cd01380	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Trismus-pseudocamptodactyly syndrome [MIM:158300]	SWISS	1005	cd00124	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Trismus-pseudocamptodactyly syndrome [MIM:158300]	SWISS	698	cd01386	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Trismus-pseudocamptodactyly syndrome [MIM:158300]	SWISS	916	cd01379	153945790,NP_002463
4626	3041707	Disease	p.Arg674Gln	VAR_019810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019810	rs28932773 Trismus-pseudocamptodactyly syndrome [MIM:158300]	SWISS	727	cd01385	153945790,NP_002463
4627	6166599	Disease	p.Asn93Lys	VAR_010791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010791	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	11	pfam00063	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	VAR_010791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010791	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	13	cd01378	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	VAR_010791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010791	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	19	cd01385	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	VAR_010791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010791	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	16	cd01382	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	VAR_010791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010791	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	13	cd01387	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	VAR_010791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010791	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	13	cd01384	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	VAR_010791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010791	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	17	cd01377	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	VAR_010791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010791	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	24	smart00242	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	VAR_010791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010791	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	20	cd01383	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	VAR_010791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010791	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	102	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	VAR_010791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010791	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	12	cd01381	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	VAR_010791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010791	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	12	cd01386	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	VAR_010791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010791	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	22	cd00124	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	VAR_010791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010791	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	18	cd01380	12667788,NP_002464
4627	6166599	Disease	p.Asn93Lys	VAR_010791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010791	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	12	cd01379	12667788,NP_002464
4627	6166599	Disease	p.Ala95Thr	VAR_018308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018308	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	13	pfam00063	12667788,NP_002464
4627	6166599	Disease	p.Ala95Thr	VAR_018308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018308	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	15	cd01378	12667788,NP_002464
4627	6166599	Disease	p.Ala95Thr	VAR_018308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018308	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	21	cd01385	12667788,NP_002464
4627	6166599	Disease	p.Ala95Thr	VAR_018308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018308	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	18	cd01382	12667788,NP_002464
4627	6166599	Disease	p.Ala95Thr	VAR_018308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018308	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	15	cd01387	12667788,NP_002464
4627	6166599	Disease	p.Ala95Thr	VAR_018308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018308	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	15	cd01384	12667788,NP_002464
4627	6166599	Disease	p.Ala95Thr	VAR_018308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018308	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	19	cd01377	12667788,NP_002464
4627	6166599	Disease	p.Ala95Thr	VAR_018308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018308	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	31	smart00242	12667788,NP_002464
4627	6166599	Disease	p.Ala95Thr	VAR_018308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018308	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	22	cd01383	12667788,NP_002464
4627	6166599	Disease	p.Ala95Thr	VAR_018308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018308	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	104	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Ala95Thr	VAR_018308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018308	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	14	cd01381	12667788,NP_002464
4627	6166599	Disease	p.Ala95Thr	VAR_018308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018308	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	14	cd01386	12667788,NP_002464
4627	6166599	Disease	p.Ala95Thr	VAR_018308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018308	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	24	cd00124	12667788,NP_002464
4627	6166599	Disease	p.Ala95Thr	VAR_018308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018308	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	20	cd01380	12667788,NP_002464
4627	6166599	Disease	p.Ala95Thr	VAR_018308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018308	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	14	cd01379	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	VAR_018309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018309	- Epstein syndrome (EPS) [MIM:153650]	SWISS	14	pfam00063	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	VAR_018309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018309	- Epstein syndrome (EPS) [MIM:153650]	SWISS	16	cd01378	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	VAR_018309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018309	- Epstein syndrome (EPS) [MIM:153650]	SWISS	22	cd01385	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	VAR_018309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018309	- Epstein syndrome (EPS) [MIM:153650]	SWISS	19	cd01382	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	VAR_018309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018309	- Epstein syndrome (EPS) [MIM:153650]	SWISS	16	cd01387	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	VAR_018309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018309	- Epstein syndrome (EPS) [MIM:153650]	SWISS	16	cd01384	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	VAR_018309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018309	- Epstein syndrome (EPS) [MIM:153650]	SWISS	20	cd01377	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	VAR_018309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018309	- Epstein syndrome (EPS) [MIM:153650]	SWISS	32	smart00242	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	VAR_018309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018309	- Epstein syndrome (EPS) [MIM:153650]	SWISS	23	cd01383	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	VAR_018309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018309	- Epstein syndrome (EPS) [MIM:153650]	SWISS	105	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	VAR_018309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018309	- Epstein syndrome (EPS) [MIM:153650]	SWISS	15	cd01381	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	VAR_018309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018309	- Epstein syndrome (EPS) [MIM:153650]	SWISS	15	cd01386	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	VAR_018309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018309	- Epstein syndrome (EPS) [MIM:153650]	SWISS	25	cd00124	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	VAR_018309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018309	- Epstein syndrome (EPS) [MIM:153650]	SWISS	21	cd01380	12667788,NP_002464
4627	6166599	Disease	p.Ser96Leu	VAR_018309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018309	- Epstein syndrome (EPS) [MIM:153650]	SWISS	15	cd01379	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	424	pfam00063	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	444	cd01378	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	303	cd01385	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	379	cd01382	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	295	cd01387	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	332	cd01384	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	362	cd01377	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	568	smart00242	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	294	cd01383	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	368	cd01363	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	404	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	292	cd01381	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	300	cd01386	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	453	cd00124	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	344	cd01380	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	299	cd01379	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	424	pfam00063	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	444	cd01378	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	303	cd01385	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	379	cd01382	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	295	cd01387	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	332	cd01384	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	362	cd01377	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	568	smart00242	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	294	cd01383	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	368	cd01363	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	404	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	292	cd01381	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	300	cd01386	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	453	cd00124	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	344	cd01380	12667788,NP_002464
4627	6166599	Disease	p.Lys373Asn	VAR_018310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018310	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	299	cd01379	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	878	pfam00063	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	809	cd01378	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	759	cd01385	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	869	cd01382	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	616	cd01387	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	695	cd01384	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	735	cd01377	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	1377	smart00242	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	610	cd01383	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	747	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	608	cd01381	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	761	cd01386	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	1064	cd00124	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	695	cd01380	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	948	cd01379	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Epstein syndrome (EPS) [MIM:153650]	SWISS	878	pfam00063	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Epstein syndrome (EPS) [MIM:153650]	SWISS	809	cd01378	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Epstein syndrome (EPS) [MIM:153650]	SWISS	759	cd01385	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Epstein syndrome (EPS) [MIM:153650]	SWISS	869	cd01382	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Epstein syndrome (EPS) [MIM:153650]	SWISS	616	cd01387	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Epstein syndrome (EPS) [MIM:153650]	SWISS	695	cd01384	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Epstein syndrome (EPS) [MIM:153650]	SWISS	735	cd01377	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Epstein syndrome (EPS) [MIM:153650]	SWISS	1377	smart00242	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Epstein syndrome (EPS) [MIM:153650]	SWISS	610	cd01383	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Epstein syndrome (EPS) [MIM:153650]	SWISS	747	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Epstein syndrome (EPS) [MIM:153650]	SWISS	608	cd01381	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Epstein syndrome (EPS) [MIM:153650]	SWISS	761	cd01386	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Epstein syndrome (EPS) [MIM:153650]	SWISS	1064	cd00124	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Epstein syndrome (EPS) [MIM:153650]	SWISS	695	cd01380	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Epstein syndrome (EPS) [MIM:153650]	SWISS	948	cd01379	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	878	pfam00063	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	809	cd01378	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	759	cd01385	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	869	cd01382	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	616	cd01387	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	695	cd01384	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	735	cd01377	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	1377	smart00242	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	610	cd01383	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	747	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	608	cd01381	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	761	cd01386	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	1064	cd00124	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	695	cd01380	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	948	cd01379	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	878	pfam00063	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	809	cd01378	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	759	cd01385	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	869	cd01382	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	616	cd01387	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	695	cd01384	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	735	cd01377	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	1377	smart00242	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	610	cd01383	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	747	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	608	cd01381	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	761	cd01386	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	1064	cd00124	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	695	cd01380	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	948	cd01379	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	878	pfam00063	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	809	cd01378	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	759	cd01385	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	869	cd01382	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	616	cd01387	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	695	cd01384	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	735	cd01377	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	1377	smart00242	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	610	cd01383	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	747	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	608	cd01381	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	761	cd01386	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	1064	cd00124	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	695	cd01380	12667788,NP_002464
4627	6166599	Disease	p.Arg702Cys	VAR_010792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010792	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	948	cd01379	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	878	pfam00063	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	809	cd01378	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	759	cd01385	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	869	cd01382	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	616	cd01387	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	695	cd01384	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	735	cd01377	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	1377	smart00242	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	610	cd01383	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	747	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	608	cd01381	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	761	cd01386	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	1064	cd00124	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	695	cd01380	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	948	cd01379	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Epstein syndrome (EPS) [MIM:153650]	SWISS	878	pfam00063	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Epstein syndrome (EPS) [MIM:153650]	SWISS	809	cd01378	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Epstein syndrome (EPS) [MIM:153650]	SWISS	759	cd01385	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Epstein syndrome (EPS) [MIM:153650]	SWISS	869	cd01382	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Epstein syndrome (EPS) [MIM:153650]	SWISS	616	cd01387	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Epstein syndrome (EPS) [MIM:153650]	SWISS	695	cd01384	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Epstein syndrome (EPS) [MIM:153650]	SWISS	735	cd01377	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Epstein syndrome (EPS) [MIM:153650]	SWISS	1377	smart00242	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Epstein syndrome (EPS) [MIM:153650]	SWISS	610	cd01383	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Epstein syndrome (EPS) [MIM:153650]	SWISS	747	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Epstein syndrome (EPS) [MIM:153650]	SWISS	608	cd01381	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Epstein syndrome (EPS) [MIM:153650]	SWISS	761	cd01386	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Epstein syndrome (EPS) [MIM:153650]	SWISS	1064	cd00124	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Epstein syndrome (EPS) [MIM:153650]	SWISS	695	cd01380	12667788,NP_002464
4627	6166599	Disease	p.Arg702His	VAR_018311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018311	- Epstein syndrome (EPS) [MIM:153650]	SWISS	948	cd01379	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	VAR_010793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010793	- Deafness autosomal dominant type 17 (DFNA17) [MIM:603622]	SWISS	881	pfam00063	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	VAR_010793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010793	- Deafness autosomal dominant type 17 (DFNA17) [MIM:603622]	SWISS	812	cd01378	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	VAR_010793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010793	- Deafness autosomal dominant type 17 (DFNA17) [MIM:603622]	SWISS	762	cd01385	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	VAR_010793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010793	- Deafness autosomal dominant type 17 (DFNA17) [MIM:603622]	SWISS	872	cd01382	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	VAR_010793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010793	- Deafness autosomal dominant type 17 (DFNA17) [MIM:603622]	SWISS	619	cd01387	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	VAR_010793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010793	- Deafness autosomal dominant type 17 (DFNA17) [MIM:603622]	SWISS	698	cd01384	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	VAR_010793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010793	- Deafness autosomal dominant type 17 (DFNA17) [MIM:603622]	SWISS	738	cd01377	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	VAR_010793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010793	- Deafness autosomal dominant type 17 (DFNA17) [MIM:603622]	SWISS	1380	smart00242	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	VAR_010793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010793	- Deafness autosomal dominant type 17 (DFNA17) [MIM:603622]	SWISS	613	cd01383	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	VAR_010793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010793	- Deafness autosomal dominant type 17 (DFNA17) [MIM:603622]	SWISS	750	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	VAR_010793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010793	- Deafness autosomal dominant type 17 (DFNA17) [MIM:603622]	SWISS	611	cd01381	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	VAR_010793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010793	- Deafness autosomal dominant type 17 (DFNA17) [MIM:603622]	SWISS	764	cd01386	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	VAR_010793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010793	- Deafness autosomal dominant type 17 (DFNA17) [MIM:603622]	SWISS	1067	cd00124	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	VAR_010793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010793	- Deafness autosomal dominant type 17 (DFNA17) [MIM:603622]	SWISS	698	cd01380	12667788,NP_002464
4627	6166599	Disease	p.Arg705His	VAR_010793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010793	- Deafness autosomal dominant type 17 (DFNA17) [MIM:603622]	SWISS	951	cd01379	12667788,NP_002464
4627	6166599	Disease	p.Lys910Gln	VAR_044226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044226	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	971	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Ser1114Pro	VAR_018312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018312	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	49	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Ser1114Pro	VAR_018312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018312	- Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]	SWISS	1208	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Thr1155Ile	VAR_010794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010794	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	90	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Thr1155Ile	VAR_010794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010794	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	1290	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Thr1155Ile	VAR_010794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010794	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	90	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Thr1155Ile	VAR_010794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010794	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	1290	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Arg1165Cys	VAR_010795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010795	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	100	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Arg1165Cys	VAR_010795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010795	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	1300	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Arg1165Cys	VAR_010795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010795	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	100	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Arg1165Cys	VAR_010795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010795	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	1300	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Arg1165Leu	VAR_018313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018313	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	100	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Arg1165Leu	VAR_018313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018313	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	1300	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Arg1165Leu	VAR_018313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018313	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	100	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Arg1165Leu	VAR_018313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018313	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	1300	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Arg1165Leu	VAR_018313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018313	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	100	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Arg1165Leu	VAR_018313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018313	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	1300	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Asp1424His	VAR_010796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010796	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	360	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Asp1424His	VAR_010796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010796	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	1638	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Asp1424His	VAR_010796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010796	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	360	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Asp1424His	VAR_010796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010796	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	1638	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Asp1424Asn	VAR_018316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018316	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	360	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Asp1424Asn	VAR_018316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018316	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	1638	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Asp1424Asn	VAR_018316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018316	- Macrothrombocytopenia with progressive sensorineural deafness (MPSD) [MIM:600208]	SWISS	360	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Asp1424Asn	VAR_018316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018316	- Macrothrombocytopenia with progressive sensorineural deafness (MPSD) [MIM:600208]	SWISS	1638	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Asp1424Asn	VAR_018316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018316	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	360	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Asp1424Asn	VAR_018316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018316	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	1638	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Asp1424Asn	VAR_018316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018316	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	360	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Asp1424Asn	VAR_018316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018316	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	1638	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Asp1424Tyr	VAR_018317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018317	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	360	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Asp1424Tyr	VAR_018317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018317	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	1638	COG5022	12667788,NP_002464
4627	6166599	Disease	p.Ile1816Val	VAR_030385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030385	- Epstein syndrome (EPS) [MIM:153650]	SWISS	753	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Glu1841Lys	VAR_010797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010797	- Epstein syndrome (EPS) [MIM:153650]	SWISS	778	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Glu1841Lys	VAR_010797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010797	- Fechtner syndrome (FTNS) [MIM:153640]	SWISS	778	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Glu1841Lys	VAR_010797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010797	- May-Hegglin anomaly (MHA) [MIM:155100]	SWISS	778	pfam01576	12667788,NP_002464
4627	6166599	Disease	p.Glu1841Lys	VAR_010797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010797	- Sebastian syndrome (SBS) [MIM:605249]	SWISS	778	pfam01576	12667788,NP_002464
4633	6166556	Disease	p.Ala13Thr	VAR_004601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004601	- Cardiomyopathy familial hypertrophic with mid-left ventricular chamber type 2 (MVC2) [MIM:608758]	SWISS	15	COG5126	94981553,NP_000423
4633	6166556	Disease	p.Phe18Leu	VAR_004602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004602	rs28932774 Cardiomyopathy familial hypertrophic type 10 (CMH10) [MIM:608758]	SWISS	20	COG5126	94981553,NP_000423
4633	6166556	Disease	p.Glu22Lys	VAR_004603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004603	- Cardiomyopathy familial hypertrophic type 10 (CMH10) [MIM:608758]	SWISS	24	COG5126	94981553,NP_000423
4633	6166556	Disease	p.Glu22Lys	VAR_004603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004603	- Cardiomyopathy familial hypertrophic with mid-left ventricular chamber type 2 (MVC2) [MIM:608758]	SWISS	24	COG5126	94981553,NP_000423
4633	6166556	Disease	p.Arg58Gln	VAR_004604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004604	rs28933099 Cardiomyopathy familial hypertrophic type 10 (CMH10) [MIM:608758]	SWISS	32	cd00051	94981553,NP_000423
4633	6166556	Disease	p.Arg58Gln	VAR_004604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004604	rs28933099 Cardiomyopathy familial hypertrophic type 10 (CMH10) [MIM:608758]	SWISS	60_G	COG5126	94981553,NP_000423
4633	6166556	Disease	p.Pro95Ala	VAR_004605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004605	- Cardiomyopathy familial hypertrophic with mid-left ventricular chamber type 2 (MVC2) [MIM:608758]	SWISS	110	COG5126	94981553,NP_000423
4633	6166556	Disease	p.Asp166Val	VAR_019844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019844	- Cardiomyopathy familial hypertrophic type 10 (CMH10) [MIM:608758]	SWISS	No Domain	N/A	94981553,NP_000423
4634	127149	Disease	p.Glu56Gly	VAR_019842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019842	- Cardiomyopathy familial hypertrophic type 8 (CMH8) [MIM:608751]	SWISS	33	COG5126	4557777,NP_000249
4634	127149	Disease	p.Glu143Lys	VAR_019843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019843	- Cardiomyopathy familial hypertrophic type 8 (CMH8) [MIM:608751]	SWISS	124	COG5126	4557777,NP_000249
4634	127149	Disease	p.Glu143Lys	VAR_019843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019843	- Cardiomyopathy familial hypertrophic type 8 (CMH8) [MIM:608751]	SWISS	12	cd00051	4557777,NP_000249
4634	127149	Disease	p.Met149Val	VAR_004599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004599	- Cardiomyopathy familial hypertrophic with mid-left ventricular chamber type 1 (MVC1) [MIM:608751]	SWISS	130	COG5126	4557777,NP_000249
4634	127149	Disease	p.Met149Val	VAR_004599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004599	- Cardiomyopathy familial hypertrophic with mid-left ventricular chamber type 1 (MVC1) [MIM:608751]	SWISS	19	cd00051	4557777,NP_000249
4634	127149	Disease	p.Arg154His	VAR_004600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004600	- Cardiomyopathy familial hypertrophic with mid-left ventricular chamber type 1 (MVC1) [MIM:608751]	SWISS	135	COG5126	4557777,NP_000249
4634	127149	Disease	p.Arg154His	VAR_004600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004600	- Cardiomyopathy familial hypertrophic with mid-left ventricular chamber type 1 (MVC1) [MIM:608751]	SWISS	24	cd00051	4557777,NP_000249
85366	24211884	Disease	p.Ala87Val	VAR_014197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014197	- Cardiomyopathy familial hypertrophic (CMH) [MIM:192600]	SWISS	No Domain	N/A	14993776,NP_149109
85366	24211884	Disease	p.Ala95Glu	VAR_014198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014198	- Cardiomyopathy familial hypertrophic (CMH) [MIM:192600]	SWISS	No Domain	N/A	14993776,NP_149109
51168	296439233	Disease	p.Asn2111Tyr	VAR_010303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010303	- Deafness autosomal recessive type 3 (DFNB3) [MIM:600316]	SWISS	8	pfam00784	118402590,NP_057323
51168	296439233	Disease	p.Asn2111Tyr	VAR_010303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010303	- Deafness autosomal recessive type 3 (DFNB3) [MIM:600316]	SWISS	1136	COG5022	118402590,NP_057323
51168	296439233	Disease	p.Asn2111Tyr	VAR_010303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010303	- Deafness autosomal recessive type 3 (DFNB3) [MIM:600316]	SWISS	270	smart00139	118402590,NP_057323
51168	296439233	Disease	p.Ile2113Phe	VAR_010304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010304	- Deafness autosomal recessive type 3 (DFNB3) [MIM:600316]	SWISS	10	pfam00784	118402590,NP_057323
51168	296439233	Disease	p.Ile2113Phe	VAR_010304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010304	- Deafness autosomal recessive type 3 (DFNB3) [MIM:600316]	SWISS	1138	COG5022	118402590,NP_057323
51168	296439233	Disease	p.Ile2113Phe	VAR_010304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010304	- Deafness autosomal recessive type 3 (DFNB3) [MIM:600316]	SWISS	272	smart00139	118402590,NP_057323
51168	296439233	Disease	p.Gln2716His	VAR_037964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037964	- Deafness autosomal recessive type 3 (DFNB3) [MIM:600316]	SWISS	No Domain	N/A	118402590,NP_057323
4640	13431715	Disease	p.Val306Met	VAR_015946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015946	rs55679042 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	573	smart00242	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	VAR_015946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015946	rs55679042 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	308	cd01385	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	VAR_015946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015946	rs55679042 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	304	cd01379	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	VAR_015946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015946	rs55679042 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	299	cd01383	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	VAR_015946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015946	rs55679042 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	297	cd01381	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	VAR_015946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015946	rs55679042 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	349	cd01380	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	VAR_015946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015946	rs55679042 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	449	cd01378	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	VAR_015946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015946	rs55679042 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	458	cd00124	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	VAR_015946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015946	rs55679042 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	305	cd01386	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	VAR_015946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015946	rs55679042 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	367	cd01377	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	VAR_015946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015946	rs55679042 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	337	cd01384	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	VAR_015946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015946	rs55679042 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	300	cd01387	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	VAR_015946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015946	rs55679042 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	409	COG5022	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	VAR_015946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015946	rs55679042 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	429	pfam00063	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	VAR_015946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015946	rs55679042 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	373	cd01363	4885503,NP_005370
4640	13431715	Disease	p.Val306Met	VAR_015946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015946	rs55679042 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	387	cd01382	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	VAR_015947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015947	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	700	smart00242	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	VAR_015947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015947	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	391	cd01385	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	VAR_015947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015947	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	427	cd01379	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	VAR_015947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015947	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	378	cd01383	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	VAR_015947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015947	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	380	cd01381	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	VAR_015947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015947	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	436	cd01380	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	VAR_015947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015947	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	541	cd01378	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	VAR_015947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015947	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	603	cd00124	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	VAR_015947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015947	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	399	cd01386	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	VAR_015947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015947	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	464	cd01377	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	VAR_015947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015947	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	443	cd01384	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	VAR_015947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015947	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	379	cd01387	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	VAR_015947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015947	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	497	COG5022	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	VAR_015947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015947	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	554	pfam00063	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	VAR_015947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015947	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	451	cd01363	4885503,NP_005370
4640	13431715	Disease	p.Glu385Asp	VAR_015947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015947	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	469	cd01382	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	VAR_015948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015948	rs33962952 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	1476	smart00242	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	VAR_015948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015948	rs33962952 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	799	cd01385	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	VAR_015948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015948	rs33962952 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	983	cd01379	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	VAR_015948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015948	rs33962952 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	651	cd01383	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	VAR_015948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015948	rs33962952 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	652	cd01381	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	VAR_015948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015948	rs33962952 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	746	cd01380	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	VAR_015948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015948	rs33962952 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	856	cd01378	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	VAR_015948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015948	rs33962952 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	1128	cd00124	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	VAR_015948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015948	rs33962952 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	815	cd01386	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	VAR_015948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015948	rs33962952 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	786	cd01377	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	VAR_015948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015948	rs33962952 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	782	cd01384	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	VAR_015948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015948	rs33962952 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	657	cd01387	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	VAR_015948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015948	rs33962952 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	798	COG5022	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	VAR_015948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015948	rs33962952 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	929	pfam00063	4885503,NP_005370
4640	13431715	Disease	p.Gly662Glu	VAR_015948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015948	rs33962952 Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	909	cd01382	4885503,NP_005370
4640	13431715	Disease	p.Gly674Asp	VAR_015949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015949	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	1500	smart00242	4885503,NP_005370
4640	13431715	Disease	p.Gly674Asp	VAR_015949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015949	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	811	cd01385	4885503,NP_005370
4640	13431715	Disease	p.Gly674Asp	VAR_015949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015949	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	995	cd01379	4885503,NP_005370
4640	13431715	Disease	p.Gly674Asp	VAR_015949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015949	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	663	cd01383	4885503,NP_005370
4640	13431715	Disease	p.Gly674Asp	VAR_015949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015949	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	664	cd01381	4885503,NP_005370
4640	13431715	Disease	p.Gly674Asp	VAR_015949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015949	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	763	cd01380	4885503,NP_005370
4640	13431715	Disease	p.Gly674Asp	VAR_015949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015949	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	871	cd01378	4885503,NP_005370
4640	13431715	Disease	p.Gly674Asp	VAR_015949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015949	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	1140	cd00124	4885503,NP_005370
4640	13431715	Disease	p.Gly674Asp	VAR_015949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015949	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	827	cd01386	4885503,NP_005370
4640	13431715	Disease	p.Gly674Asp	VAR_015949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015949	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	808	cd01377	4885503,NP_005370
4640	13431715	Disease	p.Gly674Asp	VAR_015949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015949	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	792	cd01384	4885503,NP_005370
4640	13431715	Disease	p.Gly674Asp	VAR_015949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015949	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	673	cd01387	4885503,NP_005370
4640	13431715	Disease	p.Gly674Asp	VAR_015949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015949	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	810	COG5022	4885503,NP_005370
4640	13431715	Disease	p.Gly674Asp	VAR_015949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015949	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	947	pfam00063	4885503,NP_005370
4640	13431715	Disease	p.Gly674Asp	VAR_015949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015949	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	922	cd01382	4885503,NP_005370
4640	13431715	Disease	p.Ser797Phe	VAR_015950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015950	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	1056	COG5022	4885503,NP_005370
4640	13431715	Disease	p.Ser910Pro	VAR_015951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015951	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	1339	COG5022	4885503,NP_005370
4640	13431715	Disease	p.Ser910Pro	VAR_015951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015951	- Deafness autosomal dominant type 48 (DFNA48) [MIM:607841]	SWISS	92	pfam06017	4885503,NP_005370
4645	296439293	Disease	p.Val108Gly	VAR_054993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054993	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	45	cd01385	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	VAR_054993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054993	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	38	pfam00063	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	VAR_054993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054993	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	43	cd01377	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	VAR_054993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054993	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	57	cd00124	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	VAR_054993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054993	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	48	cd01380	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	VAR_054993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054993	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	39	cd01378	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	VAR_054993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054993	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	38	cd01381	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	VAR_054993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054993	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	38	cd01379	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	VAR_054993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054993	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	46	cd01383	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	VAR_054993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054993	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	56	smart00242	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	VAR_054993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054993	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	39	cd01384	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	VAR_054993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054993	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	39	cd01387	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	VAR_054993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054993	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	128	COG5022	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	VAR_054993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054993	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	3	cd01363	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	VAR_054993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054993	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	42	cd01382	122937345,NP_001073936
4645	296439293	Disease	p.Val108Gly	VAR_054993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054993	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	38	cd01386	122937345,NP_001073936
4645	296439293	Disease	p.Arg219His	VAR_054994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054994	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	158	cd01385	122937345,NP_001073936
4645	296439293	Disease	p.Arg219His	VAR_054994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054994	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	214	pfam00063	122937345,NP_001073936
4645	296439293	Disease	p.Arg219His	VAR_054994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054994	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	211	cd01377	122937345,NP_001073936
4645	296439293	Disease	p.Arg219His	VAR_054994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054994	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	235	cd00124	122937345,NP_001073936
4645	296439293	Disease	p.Arg219His	VAR_054994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054994	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	189	cd01380	122937345,NP_001073936
4645	296439293	Disease	p.Arg219His	VAR_054994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054994	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	293	cd01378	122937345,NP_001073936
4645	296439293	Disease	p.Arg219His	VAR_054994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054994	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	147	cd01381	122937345,NP_001073936
4645	296439293	Disease	p.Arg219His	VAR_054994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054994	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	148	cd01379	122937345,NP_001073936
4645	296439293	Disease	p.Arg219His	VAR_054994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054994	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	153	cd01383	122937345,NP_001073936
4645	296439293	Disease	p.Arg219His	VAR_054994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054994	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	316	smart00242	122937345,NP_001073936
4645	296439293	Disease	p.Arg219His	VAR_054994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054994	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	183	cd01384	122937345,NP_001073936
4645	296439293	Disease	p.Arg219His	VAR_054994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054994	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	153	cd01387	122937345,NP_001073936
4645	296439293	Disease	p.Arg219His	VAR_054994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054994	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	263	COG5022	122937345,NP_001073936
4645	296439293	Disease	p.Arg219His	VAR_054994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054994	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	228	cd01363	122937345,NP_001073936
4645	296439293	Disease	p.Arg219His	VAR_054994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054994	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	171	cd01382	122937345,NP_001073936
4645	296439293	Disease	p.Arg219His	VAR_054994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054994	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	155	cd01386	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	VAR_054995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054995	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	727	cd01385	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	VAR_054995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054995	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	841	pfam00063	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	VAR_054995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054995	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	703	cd01377	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	VAR_054995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054995	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	1005	cd00124	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	VAR_054995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054995	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	663	cd01380	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	VAR_054995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054995	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	777	cd01378	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	VAR_054995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054995	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	576	cd01381	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	VAR_054995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054995	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	916	cd01379	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	VAR_054995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054995	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	578	cd01383	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	VAR_054995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054995	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	1344	smart00242	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	VAR_054995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054995	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	663	cd01384	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	VAR_054995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054995	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	584	cd01387	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	VAR_054995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054995	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	715	COG5022	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	VAR_054995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054995	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	694	cd01363	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	VAR_054995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054995	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	678	cd01382	122937345,NP_001073936
4645	296439293	Disease	p.Arg656Cys	VAR_054995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054995	- Microvillus inclusion disease (MVID) [MIM:251850]	SWISS	698	cd01386	122937345,NP_001073936
4646	122065628	Disease	p.Glu216Val	VAR_016209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016209	rs28936390 Deafness autosomal recessive type 37 (DFNB37) [MIM:607821]	SWISS	164	cd01383	NULL
4646	122065628	Disease	p.Glu216Val	VAR_016209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016209	rs28936390 Deafness autosomal recessive type 37 (DFNB37) [MIM:607821]	SWISS	169	cd01385	NULL
4646	122065628	Disease	p.Glu216Val	VAR_016209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016209	rs28936390 Deafness autosomal recessive type 37 (DFNB37) [MIM:607821]	SWISS	163	cd01387	NULL
4646	122065628	Disease	p.Glu216Val	VAR_016209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016209	rs28936390 Deafness autosomal recessive type 37 (DFNB37) [MIM:607821]	SWISS	194	cd01384	NULL
4646	122065628	Disease	p.Glu216Val	VAR_016209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016209	rs28936390 Deafness autosomal recessive type 37 (DFNB37) [MIM:607821]	SWISS	159	cd01379	NULL
4646	122065628	Disease	p.Glu216Val	VAR_016209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016209	rs28936390 Deafness autosomal recessive type 37 (DFNB37) [MIM:607821]	SWISS	166	cd01386	NULL
4646	122065628	Disease	p.Glu216Val	VAR_016209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016209	rs28936390 Deafness autosomal recessive type 37 (DFNB37) [MIM:607821]	SWISS	201	cd01380	NULL
4646	122065628	Disease	p.Glu216Val	VAR_016209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016209	rs28936390 Deafness autosomal recessive type 37 (DFNB37) [MIM:607821]	SWISS	158	cd01381	NULL
4646	122065628	Disease	p.Glu216Val	VAR_016209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016209	rs28936390 Deafness autosomal recessive type 37 (DFNB37) [MIM:607821]	SWISS	250	cd00124	NULL
4646	122065628	Disease	p.Glu216Val	VAR_016209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016209	rs28936390 Deafness autosomal recessive type 37 (DFNB37) [MIM:607821]	SWISS	327	smart00242	NULL
4646	122065628	Disease	p.Glu216Val	VAR_016209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016209	rs28936390 Deafness autosomal recessive type 37 (DFNB37) [MIM:607821]	SWISS	225	pfam00063	NULL
4646	122065628	Disease	p.Glu216Val	VAR_016209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016209	rs28936390 Deafness autosomal recessive type 37 (DFNB37) [MIM:607821]	SWISS	304	cd01378	NULL
4646	122065628	Disease	p.Glu216Val	VAR_016209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016209	rs28936390 Deafness autosomal recessive type 37 (DFNB37) [MIM:607821]	SWISS	222	cd01377	NULL
4646	122065628	Disease	p.Glu216Val	VAR_016209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016209	rs28936390 Deafness autosomal recessive type 37 (DFNB37) [MIM:607821]	SWISS	274	COG5022	NULL
4646	122065628	Disease	p.Glu216Val	VAR_016209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016209	rs28936390 Deafness autosomal recessive type 37 (DFNB37) [MIM:607821]	SWISS	239	cd01363	NULL
4646	122065628	Disease	p.Glu216Val	VAR_016209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016209	rs28936390 Deafness autosomal recessive type 37 (DFNB37) [MIM:607821]	SWISS	182	cd01382	NULL
4646	122065628	Disease	p.His246Arg	VAR_029988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029988	rs28936391 Deafness sensorineural with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]	SWISS	194	cd01383	NULL
4646	122065628	Disease	p.His246Arg	VAR_029988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029988	rs28936391 Deafness sensorineural with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]	SWISS	199	cd01385	NULL
4646	122065628	Disease	p.His246Arg	VAR_029988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029988	rs28936391 Deafness sensorineural with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]	SWISS	193	cd01387	NULL
4646	122065628	Disease	p.His246Arg	VAR_029988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029988	rs28936391 Deafness sensorineural with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]	SWISS	224	cd01384	NULL
4646	122065628	Disease	p.His246Arg	VAR_029988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029988	rs28936391 Deafness sensorineural with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]	SWISS	189	cd01379	NULL
4646	122065628	Disease	p.His246Arg	VAR_029988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029988	rs28936391 Deafness sensorineural with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]	SWISS	196	cd01386	NULL
4646	122065628	Disease	p.His246Arg	VAR_029988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029988	rs28936391 Deafness sensorineural with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]	SWISS	234	cd01380	NULL
4646	122065628	Disease	p.His246Arg	VAR_029988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029988	rs28936391 Deafness sensorineural with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]	SWISS	188	cd01381	NULL
4646	122065628	Disease	p.His246Arg	VAR_029988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029988	rs28936391 Deafness sensorineural with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]	SWISS	292	cd00124	NULL
4646	122065628	Disease	p.His246Arg	VAR_029988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029988	rs28936391 Deafness sensorineural with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]	SWISS	364	smart00242	NULL
4646	122065628	Disease	p.His246Arg	VAR_029988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029988	rs28936391 Deafness sensorineural with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]	SWISS	262	pfam00063	NULL
4646	122065628	Disease	p.His246Arg	VAR_029988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029988	rs28936391 Deafness sensorineural with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]	SWISS	334	cd01378	NULL
4646	122065628	Disease	p.His246Arg	VAR_029988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029988	rs28936391 Deafness sensorineural with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]	SWISS	253	cd01377	NULL
4646	122065628	Disease	p.His246Arg	VAR_029988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029988	rs28936391 Deafness sensorineural with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]	SWISS	304	COG5022	NULL
4646	122065628	Disease	p.His246Arg	VAR_029988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029988	rs28936391 Deafness sensorineural with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]	SWISS	269	cd01363	NULL
4646	122065628	Disease	p.His246Arg	VAR_029988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029988	rs28936391 Deafness sensorineural with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]	SWISS	212	cd01382	NULL
4646	122065628	Disease	p.Cys442Tyr	VAR_012110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012110	- Deafness autosomal dominant type 22 (DFNA22) [MIM:606346]	SWISS	357	cd01383	NULL
4646	122065628	Disease	p.Cys442Tyr	VAR_012110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012110	- Deafness autosomal dominant type 22 (DFNA22) [MIM:606346]	SWISS	366	cd01385	NULL
4646	122065628	Disease	p.Cys442Tyr	VAR_012110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012110	- Deafness autosomal dominant type 22 (DFNA22) [MIM:606346]	SWISS	358	cd01387	NULL
4646	122065628	Disease	p.Cys442Tyr	VAR_012110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012110	- Deafness autosomal dominant type 22 (DFNA22) [MIM:606346]	SWISS	396	cd01384	NULL
4646	122065628	Disease	p.Cys442Tyr	VAR_012110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012110	- Deafness autosomal dominant type 22 (DFNA22) [MIM:606346]	SWISS	362	cd01379	NULL
4646	122065628	Disease	p.Cys442Tyr	VAR_012110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012110	- Deafness autosomal dominant type 22 (DFNA22) [MIM:606346]	SWISS	377	cd01386	NULL
4646	122065628	Disease	p.Cys442Tyr	VAR_012110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012110	- Deafness autosomal dominant type 22 (DFNA22) [MIM:606346]	SWISS	407	cd01380	NULL
4646	122065628	Disease	p.Cys442Tyr	VAR_012110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012110	- Deafness autosomal dominant type 22 (DFNA22) [MIM:606346]	SWISS	355	cd01381	NULL
4646	122065628	Disease	p.Cys442Tyr	VAR_012110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012110	- Deafness autosomal dominant type 22 (DFNA22) [MIM:606346]	SWISS	536	cd00124	NULL
4646	122065628	Disease	p.Cys442Tyr	VAR_012110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012110	- Deafness autosomal dominant type 22 (DFNA22) [MIM:606346]	SWISS	652	smart00242	NULL
4646	122065628	Disease	p.Cys442Tyr	VAR_012110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012110	- Deafness autosomal dominant type 22 (DFNA22) [MIM:606346]	SWISS	496	pfam00063	NULL
4646	122065628	Disease	p.Cys442Tyr	VAR_012110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012110	- Deafness autosomal dominant type 22 (DFNA22) [MIM:606346]	SWISS	515	cd01378	NULL
4646	122065628	Disease	p.Cys442Tyr	VAR_012110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012110	- Deafness autosomal dominant type 22 (DFNA22) [MIM:606346]	SWISS	433	cd01377	NULL
4646	122065628	Disease	p.Cys442Tyr	VAR_012110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012110	- Deafness autosomal dominant type 22 (DFNA22) [MIM:606346]	SWISS	472	COG5022	NULL
4646	122065628	Disease	p.Cys442Tyr	VAR_012110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012110	- Deafness autosomal dominant type 22 (DFNA22) [MIM:606346]	SWISS	431	cd01363	NULL
4646	122065628	Disease	p.Cys442Tyr	VAR_012110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012110	- Deafness autosomal dominant type 22 (DFNA22) [MIM:606346]	SWISS	450	cd01382	NULL
4647	9297020	Disease	p.Leu16Ser	VAR_009315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009315	rs1052030 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	29	COG5022	NULL
4647	9297020	Disease	p.Gly25Arg	VAR_009316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009316	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	37_G	COG5022	NULL
4647	9297020	Disease	p.Ala26Glu	VAR_024039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024039	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	38	COG5022	NULL
4647	9297020	Disease	p.Val67Met	VAR_024040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024040	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	92	COG5022	NULL
4647	9297020	Disease	p.Val67Met	VAR_024040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024040	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	3	cd01384	NULL
4647	9297020	Disease	p.Val67Met	VAR_024040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024040	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	3	cd01387	NULL
4647	9297020	Disease	p.Val67Met	VAR_024040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024040	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	7	cd01377	NULL
4647	9297020	Disease	p.Val67Met	VAR_024040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024040	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	10	cd01383	NULL
4647	9297020	Disease	p.Val67Met	VAR_024040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024040	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	9	cd01385	NULL
4647	9297020	Disease	p.Val67Met	VAR_024040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024040	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	8	smart00242	NULL
4647	9297020	Disease	p.Val67Met	VAR_024040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024040	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	2	cd01379	NULL
4647	9297020	Disease	p.Val67Met	VAR_024040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024040	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	2	cd01386	NULL
4647	9297020	Disease	p.Val67Met	VAR_024040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024040	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	2	cd00124	NULL
4647	9297020	Disease	p.Val67Met	VAR_024040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024040	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	2	cd01381	NULL
4647	9297020	Disease	p.Val67Met	VAR_024040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024040	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	2	cd01380	NULL
4647	9297020	Disease	p.Val67Met	VAR_024040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024040	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	2	cd01378	NULL
4647	9297020	Disease	p.Val67Met	VAR_024040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024040	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	6	cd01382	NULL
4647	9297020	Disease	p.Arg90Pro	VAR_024041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024041	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	24	pfam00063	NULL
4647	9297020	Disease	p.Arg90Pro	VAR_024041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024041	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	115	COG5022	NULL
4647	9297020	Disease	p.Arg90Pro	VAR_024041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024041	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	26	cd01384	NULL
4647	9297020	Disease	p.Arg90Pro	VAR_024041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024041	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	26	cd01387	NULL
4647	9297020	Disease	p.Arg90Pro	VAR_024041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024041	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	30	cd01377	NULL
4647	9297020	Disease	p.Arg90Pro	VAR_024041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024041	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	33	cd01383	NULL
4647	9297020	Disease	p.Arg90Pro	VAR_024041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024041	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	32	cd01385	NULL
4647	9297020	Disease	p.Arg90Pro	VAR_024041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024041	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	42	smart00242	NULL
4647	9297020	Disease	p.Arg90Pro	VAR_024041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024041	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	25	cd01379	NULL
4647	9297020	Disease	p.Arg90Pro	VAR_024041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024041	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	25	cd01386	NULL
4647	9297020	Disease	p.Arg90Pro	VAR_024041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024041	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	35	cd00124	NULL
4647	9297020	Disease	p.Arg90Pro	VAR_024041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024041	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	25	cd01381	NULL
4647	9297020	Disease	p.Arg90Pro	VAR_024041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024041	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	31	cd01380	NULL
4647	9297020	Disease	p.Arg90Pro	VAR_024041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024041	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	26	cd01378	NULL
4647	9297020	Disease	p.Arg90Pro	VAR_024041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024041	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	29	cd01382	NULL
4647	9297020	Disease	p.His133Asp	VAR_027301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027301	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	81	pfam00063	NULL
4647	9297020	Disease	p.His133Asp	VAR_027301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027301	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	171	COG5022	NULL
4647	9297020	Disease	p.His133Asp	VAR_027301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027301	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	70	cd01384	NULL
4647	9297020	Disease	p.His133Asp	VAR_027301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027301	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	70	cd01387	NULL
4647	9297020	Disease	p.His133Asp	VAR_027301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027301	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	94	cd01377	NULL
4647	9297020	Disease	p.His133Asp	VAR_027301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027301	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	74	cd01383	NULL
4647	9297020	Disease	p.His133Asp	VAR_027301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027301	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	76	cd01385	NULL
4647	9297020	Disease	p.His133Asp	VAR_027301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027301	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	104	smart00242	NULL
4647	9297020	Disease	p.His133Asp	VAR_027301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027301	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	65	cd01363	NULL
4647	9297020	Disease	p.His133Asp	VAR_027301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027301	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	68	cd01379	NULL
4647	9297020	Disease	p.His133Asp	VAR_027301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027301	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	69	cd01386	NULL
4647	9297020	Disease	p.His133Asp	VAR_027301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027301	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	107	cd00124	NULL
4647	9297020	Disease	p.His133Asp	VAR_027301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027301	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	68	cd01381	NULL
4647	9297020	Disease	p.His133Asp	VAR_027301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027301	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	81	cd01380	NULL
4647	9297020	Disease	p.His133Asp	VAR_027301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027301	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	70	cd01378	NULL
4647	9297020	Disease	p.His133Asp	VAR_027301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027301	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	73	cd01382	NULL
4647	9297020	Disease	p.Ile134Asn	VAR_024042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024042	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	82	pfam00063	NULL
4647	9297020	Disease	p.Ile134Asn	VAR_024042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024042	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	172	COG5022	NULL
4647	9297020	Disease	p.Ile134Asn	VAR_024042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024042	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	71	cd01384	NULL
4647	9297020	Disease	p.Ile134Asn	VAR_024042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024042	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	71	cd01387	NULL
4647	9297020	Disease	p.Ile134Asn	VAR_024042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024042	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	95	cd01377	NULL
4647	9297020	Disease	p.Ile134Asn	VAR_024042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024042	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	75	cd01383	NULL
4647	9297020	Disease	p.Ile134Asn	VAR_024042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024042	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	77	cd01385	NULL
4647	9297020	Disease	p.Ile134Asn	VAR_024042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024042	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	105	smart00242	NULL
4647	9297020	Disease	p.Ile134Asn	VAR_024042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024042	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	66	cd01363	NULL
4647	9297020	Disease	p.Ile134Asn	VAR_024042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024042	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	69	cd01379	NULL
4647	9297020	Disease	p.Ile134Asn	VAR_024042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024042	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	70	cd01386	NULL
4647	9297020	Disease	p.Ile134Asn	VAR_024042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024042	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	108	cd00124	NULL
4647	9297020	Disease	p.Ile134Asn	VAR_024042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024042	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	69	cd01381	NULL
4647	9297020	Disease	p.Ile134Asn	VAR_024042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024042	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	82	cd01380	NULL
4647	9297020	Disease	p.Ile134Asn	VAR_024042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024042	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	71	cd01378	NULL
4647	9297020	Disease	p.Ile134Asn	VAR_024042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024042	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	74	cd01382	NULL
4647	9297020	Disease	p.Gly163Arg	VAR_027302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027302	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	111	pfam00063	NULL
4647	9297020	Disease	p.Gly163Arg	VAR_027302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027302	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	201	COG5022	NULL
4647	9297020	Disease	p.Gly163Arg	VAR_027302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027302	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	100	cd01384	NULL
4647	9297020	Disease	p.Gly163Arg	VAR_027302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027302	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	100	cd01387	NULL
4647	9297020	Disease	p.Gly163Arg	VAR_027302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027302	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	127	cd01377	NULL
4647	9297020	Disease	p.Gly163Arg	VAR_027302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027302	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	104	cd01383	NULL
4647	9297020	Disease	p.Gly163Arg	VAR_027302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027302	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	106	cd01385	NULL
4647	9297020	Disease	p.Gly163Arg	VAR_027302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027302	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	137	smart00242	NULL
4647	9297020	Disease	p.Gly163Arg	VAR_027302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027302	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	96	cd01363	NULL
4647	9297020	Disease	p.Gly163Arg	VAR_027302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027302	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	98	cd01379	NULL
4647	9297020	Disease	p.Gly163Arg	VAR_027302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027302	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	99	cd01386	NULL
4647	9297020	Disease	p.Gly163Arg	VAR_027302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027302	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	137	cd00124	NULL
4647	9297020	Disease	p.Gly163Arg	VAR_027302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027302	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	98	cd01381	NULL
4647	9297020	Disease	p.Gly163Arg	VAR_027302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027302	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	121	cd01380	NULL
4647	9297020	Disease	p.Gly163Arg	VAR_027302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027302	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	100	cd01378	NULL
4647	9297020	Disease	p.Gly163Arg	VAR_027302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027302	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	103	cd01382	NULL
4647	9297020	Disease	p.Lys164Arg	VAR_027303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027303	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	112	pfam00063	NULL
4647	9297020	Disease	p.Lys164Arg	VAR_027303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027303	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	202	COG5022	NULL
4647	9297020	Disease	p.Lys164Arg	VAR_027303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027303	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	101	cd01384	NULL
4647	9297020	Disease	p.Lys164Arg	VAR_027303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027303	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	101	cd01387	NULL
4647	9297020	Disease	p.Lys164Arg	VAR_027303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027303	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	128	cd01377	NULL
4647	9297020	Disease	p.Lys164Arg	VAR_027303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027303	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	105	cd01383	NULL
4647	9297020	Disease	p.Lys164Arg	VAR_027303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027303	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	107	cd01385	NULL
4647	9297020	Disease	p.Lys164Arg	VAR_027303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027303	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	138	smart00242	NULL
4647	9297020	Disease	p.Lys164Arg	VAR_027303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027303	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	97	cd01363	NULL
4647	9297020	Disease	p.Lys164Arg	VAR_027303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027303	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	99	cd01379	NULL
4647	9297020	Disease	p.Lys164Arg	VAR_027303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027303	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	100	cd01386	NULL
4647	9297020	Disease	p.Lys164Arg	VAR_027303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027303	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	138	cd00124	NULL
4647	9297020	Disease	p.Lys164Arg	VAR_027303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027303	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	99	cd01381	NULL
4647	9297020	Disease	p.Lys164Arg	VAR_027303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027303	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	122	cd01380	NULL
4647	9297020	Disease	p.Lys164Arg	VAR_027303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027303	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	101	cd01378	NULL
4647	9297020	Disease	p.Lys164Arg	VAR_027303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027303	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	104	cd01382	NULL
4647	9297020	Disease	p.Thr165Met	VAR_024043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024043	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	113	pfam00063	NULL
4647	9297020	Disease	p.Thr165Met	VAR_024043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024043	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	203	COG5022	NULL
4647	9297020	Disease	p.Thr165Met	VAR_024043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024043	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	102	cd01384	NULL
4647	9297020	Disease	p.Thr165Met	VAR_024043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024043	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	102	cd01387	NULL
4647	9297020	Disease	p.Thr165Met	VAR_024043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024043	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	129	cd01377	NULL
4647	9297020	Disease	p.Thr165Met	VAR_024043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024043	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	106	cd01383	NULL
4647	9297020	Disease	p.Thr165Met	VAR_024043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024043	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	108	cd01385	NULL
4647	9297020	Disease	p.Thr165Met	VAR_024043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024043	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	139	smart00242	NULL
4647	9297020	Disease	p.Thr165Met	VAR_024043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024043	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	98	cd01363	NULL
4647	9297020	Disease	p.Thr165Met	VAR_024043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024043	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	100	cd01379	NULL
4647	9297020	Disease	p.Thr165Met	VAR_024043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024043	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	101	cd01386	NULL
4647	9297020	Disease	p.Thr165Met	VAR_024043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024043	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	139	cd00124	NULL
4647	9297020	Disease	p.Thr165Met	VAR_024043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024043	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	100	cd01381	NULL
4647	9297020	Disease	p.Thr165Met	VAR_024043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024043	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	123	cd01380	NULL
4647	9297020	Disease	p.Thr165Met	VAR_024043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024043	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	102	cd01378	NULL
4647	9297020	Disease	p.Thr165Met	VAR_024043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024043	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	105	cd01382	NULL
4647	9297020	Disease	p.Ala198Thr	VAR_027304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027304	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	200	pfam00063	NULL
4647	9297020	Disease	p.Ala198Thr	VAR_027304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027304	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	249	COG5022	NULL
4647	9297020	Disease	p.Ala198Thr	VAR_027304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027304	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	169	cd01384	NULL
4647	9297020	Disease	p.Ala198Thr	VAR_027304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027304	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	139	cd01387	NULL
4647	9297020	Disease	p.Ala198Thr	VAR_027304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027304	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	197	cd01377	NULL
4647	9297020	Disease	p.Ala198Thr	VAR_027304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027304	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	139	cd01383	NULL
4647	9297020	Disease	p.Ala198Thr	VAR_027304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027304	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	144	cd01385	NULL
4647	9297020	Disease	p.Ala198Thr	VAR_027304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027304	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	302	smart00242	NULL
4647	9297020	Disease	p.Ala198Thr	VAR_027304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027304	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	213	cd01363	NULL
4647	9297020	Disease	p.Ala198Thr	VAR_027304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027304	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	134	cd01379	NULL
4647	9297020	Disease	p.Ala198Thr	VAR_027304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027304	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	141	cd01386	NULL
4647	9297020	Disease	p.Ala198Thr	VAR_027304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027304	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	221	cd00124	NULL
4647	9297020	Disease	p.Ala198Thr	VAR_027304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027304	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	133	cd01381	NULL
4647	9297020	Disease	p.Ala198Thr	VAR_027304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027304	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	175	cd01380	NULL
4647	9297020	Disease	p.Ala198Thr	VAR_027304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027304	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	279	cd01378	NULL
4647	9297020	Disease	p.Ala198Thr	VAR_027304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027304	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	157	cd01382	NULL
4647	9297020	Disease	p.Thr204Ala	VAR_027305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027305	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	206	pfam00063	NULL
4647	9297020	Disease	p.Thr204Ala	VAR_027305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027305	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	255	COG5022	NULL
4647	9297020	Disease	p.Thr204Ala	VAR_027305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027305	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	175	cd01384	NULL
4647	9297020	Disease	p.Thr204Ala	VAR_027305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027305	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	145	cd01387	NULL
4647	9297020	Disease	p.Thr204Ala	VAR_027305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027305	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	203	cd01377	NULL
4647	9297020	Disease	p.Thr204Ala	VAR_027305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027305	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	145	cd01383	NULL
4647	9297020	Disease	p.Thr204Ala	VAR_027305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027305	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	150	cd01385	NULL
4647	9297020	Disease	p.Thr204Ala	VAR_027305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027305	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	308	smart00242	NULL
4647	9297020	Disease	p.Thr204Ala	VAR_027305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027305	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	220	cd01363	NULL
4647	9297020	Disease	p.Thr204Ala	VAR_027305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027305	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	140	cd01379	NULL
4647	9297020	Disease	p.Thr204Ala	VAR_027305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027305	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	147	cd01386	NULL
4647	9297020	Disease	p.Thr204Ala	VAR_027305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027305	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	227	cd00124	NULL
4647	9297020	Disease	p.Thr204Ala	VAR_027305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027305	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	139	cd01381	NULL
4647	9297020	Disease	p.Thr204Ala	VAR_027305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027305	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	181	cd01380	NULL
4647	9297020	Disease	p.Thr204Ala	VAR_027305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027305	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	285	cd01378	NULL
4647	9297020	Disease	p.Thr204Ala	VAR_027305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027305	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	163	cd01382	NULL
4647	9297020	Disease	p.Arg212Cys	VAR_009318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009318	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	214	pfam00063	NULL
4647	9297020	Disease	p.Arg212Cys	VAR_009318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009318	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	263	COG5022	NULL
4647	9297020	Disease	p.Arg212Cys	VAR_009318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009318	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	183	cd01384	NULL
4647	9297020	Disease	p.Arg212Cys	VAR_009318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009318	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	153	cd01387	NULL
4647	9297020	Disease	p.Arg212Cys	VAR_009318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009318	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	211	cd01377	NULL
4647	9297020	Disease	p.Arg212Cys	VAR_009318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009318	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	153	cd01383	NULL
4647	9297020	Disease	p.Arg212Cys	VAR_009318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009318	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	158	cd01385	NULL
4647	9297020	Disease	p.Arg212Cys	VAR_009318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009318	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	316	smart00242	NULL
4647	9297020	Disease	p.Arg212Cys	VAR_009318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009318	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	228	cd01363	NULL
4647	9297020	Disease	p.Arg212Cys	VAR_009318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009318	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	148	cd01379	NULL
4647	9297020	Disease	p.Arg212Cys	VAR_009318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009318	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	155	cd01386	NULL
4647	9297020	Disease	p.Arg212Cys	VAR_009318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009318	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	235	cd00124	NULL
4647	9297020	Disease	p.Arg212Cys	VAR_009318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009318	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	147	cd01381	NULL
4647	9297020	Disease	p.Arg212Cys	VAR_009318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009318	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	189	cd01380	NULL
4647	9297020	Disease	p.Arg212Cys	VAR_009318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009318	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	293	cd01378	NULL
4647	9297020	Disease	p.Arg212Cys	VAR_009318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009318	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	171	cd01382	NULL
4647	9297020	Disease	p.Arg212His	VAR_009319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009319	rs28934610 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	214	pfam00063	NULL
4647	9297020	Disease	p.Arg212His	VAR_009319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009319	rs28934610 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	263	COG5022	NULL
4647	9297020	Disease	p.Arg212His	VAR_009319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009319	rs28934610 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	183	cd01384	NULL
4647	9297020	Disease	p.Arg212His	VAR_009319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009319	rs28934610 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	153	cd01387	NULL
4647	9297020	Disease	p.Arg212His	VAR_009319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009319	rs28934610 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	211	cd01377	NULL
4647	9297020	Disease	p.Arg212His	VAR_009319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009319	rs28934610 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	153	cd01383	NULL
4647	9297020	Disease	p.Arg212His	VAR_009319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009319	rs28934610 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	158	cd01385	NULL
4647	9297020	Disease	p.Arg212His	VAR_009319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009319	rs28934610 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	316	smart00242	NULL
4647	9297020	Disease	p.Arg212His	VAR_009319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009319	rs28934610 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	228	cd01363	NULL
4647	9297020	Disease	p.Arg212His	VAR_009319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009319	rs28934610 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	148	cd01379	NULL
4647	9297020	Disease	p.Arg212His	VAR_009319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009319	rs28934610 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	155	cd01386	NULL
4647	9297020	Disease	p.Arg212His	VAR_009319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009319	rs28934610 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	235	cd00124	NULL
4647	9297020	Disease	p.Arg212His	VAR_009319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009319	rs28934610 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	147	cd01381	NULL
4647	9297020	Disease	p.Arg212His	VAR_009319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009319	rs28934610 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	189	cd01380	NULL
4647	9297020	Disease	p.Arg212His	VAR_009319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009319	rs28934610 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	293	cd01378	NULL
4647	9297020	Disease	p.Arg212His	VAR_009319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009319	rs28934610 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	171	cd01382	NULL
4647	9297020	Disease	p.Gly214Arg	VAR_009320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009320	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	216	pfam00063	NULL
4647	9297020	Disease	p.Gly214Arg	VAR_009320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009320	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	265	COG5022	NULL
4647	9297020	Disease	p.Gly214Arg	VAR_009320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009320	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	185	cd01384	NULL
4647	9297020	Disease	p.Gly214Arg	VAR_009320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009320	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	155	cd01387	NULL
4647	9297020	Disease	p.Gly214Arg	VAR_009320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009320	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	213	cd01377	NULL
4647	9297020	Disease	p.Gly214Arg	VAR_009320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009320	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	155	cd01383	NULL
4647	9297020	Disease	p.Gly214Arg	VAR_009320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009320	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	160	cd01385	NULL
4647	9297020	Disease	p.Gly214Arg	VAR_009320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009320	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	318	smart00242	NULL
4647	9297020	Disease	p.Gly214Arg	VAR_009320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009320	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	230	cd01363	NULL
4647	9297020	Disease	p.Gly214Arg	VAR_009320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009320	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	150	cd01379	NULL
4647	9297020	Disease	p.Gly214Arg	VAR_009320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009320	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	157	cd01386	NULL
4647	9297020	Disease	p.Gly214Arg	VAR_009320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009320	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	237	cd00124	NULL
4647	9297020	Disease	p.Gly214Arg	VAR_009320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009320	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	149	cd01381	NULL
4647	9297020	Disease	p.Gly214Arg	VAR_009320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009320	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	191	cd01380	NULL
4647	9297020	Disease	p.Gly214Arg	VAR_009320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009320	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	295	cd01378	NULL
4647	9297020	Disease	p.Gly214Arg	VAR_009320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009320	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	173	cd01382	NULL
4647	9297020	Disease	p.Arg241Cys	VAR_024044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024044	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	247	pfam00063	NULL
4647	9297020	Disease	p.Arg241Cys	VAR_024044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024044	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	292	COG5022	NULL
4647	9297020	Disease	p.Arg241Cys	VAR_024044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024044	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	212	cd01384	NULL
4647	9297020	Disease	p.Arg241Cys	VAR_024044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024044	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	181	cd01387	NULL
4647	9297020	Disease	p.Arg241Cys	VAR_024044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024044	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	241	cd01377	NULL
4647	9297020	Disease	p.Arg241Cys	VAR_024044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024044	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	182	cd01383	NULL
4647	9297020	Disease	p.Arg241Cys	VAR_024044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024044	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	187	cd01385	NULL
4647	9297020	Disease	p.Arg241Cys	VAR_024044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024044	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	352	smart00242	NULL
4647	9297020	Disease	p.Arg241Cys	VAR_024044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024044	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	257	cd01363	NULL
4647	9297020	Disease	p.Arg241Cys	VAR_024044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024044	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	177	cd01379	NULL
4647	9297020	Disease	p.Arg241Cys	VAR_024044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024044	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	184	cd01386	NULL
4647	9297020	Disease	p.Arg241Cys	VAR_024044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024044	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	277	cd00124	NULL
4647	9297020	Disease	p.Arg241Cys	VAR_024044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024044	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	176	cd01381	NULL
4647	9297020	Disease	p.Arg241Cys	VAR_024044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024044	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	222	cd01380	NULL
4647	9297020	Disease	p.Arg241Cys	VAR_024044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024044	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	322	cd01378	NULL
4647	9297020	Disease	p.Arg241Cys	VAR_024044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024044	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	200	cd01382	NULL
4647	9297020	Disease	p.Arg241Ser	VAR_009322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009322	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	247	pfam00063	NULL
4647	9297020	Disease	p.Arg241Ser	VAR_009322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009322	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	292	COG5022	NULL
4647	9297020	Disease	p.Arg241Ser	VAR_009322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009322	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	212	cd01384	NULL
4647	9297020	Disease	p.Arg241Ser	VAR_009322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009322	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	181	cd01387	NULL
4647	9297020	Disease	p.Arg241Ser	VAR_009322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009322	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	241	cd01377	NULL
4647	9297020	Disease	p.Arg241Ser	VAR_009322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009322	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	182	cd01383	NULL
4647	9297020	Disease	p.Arg241Ser	VAR_009322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009322	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	187	cd01385	NULL
4647	9297020	Disease	p.Arg241Ser	VAR_009322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009322	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	352	smart00242	NULL
4647	9297020	Disease	p.Arg241Ser	VAR_009322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009322	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	257	cd01363	NULL
4647	9297020	Disease	p.Arg241Ser	VAR_009322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009322	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	177	cd01379	NULL
4647	9297020	Disease	p.Arg241Ser	VAR_009322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009322	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	184	cd01386	NULL
4647	9297020	Disease	p.Arg241Ser	VAR_009322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009322	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	277	cd00124	NULL
4647	9297020	Disease	p.Arg241Ser	VAR_009322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009322	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	176	cd01381	NULL
4647	9297020	Disease	p.Arg241Ser	VAR_009322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009322	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	222	cd01380	NULL
4647	9297020	Disease	p.Arg241Ser	VAR_009322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009322	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	322	cd01378	NULL
4647	9297020	Disease	p.Arg241Ser	VAR_009322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009322	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	200	cd01382	NULL
4647	9297020	Disease	p.Arg244Pro	VAR_009323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009323	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	253	pfam00063	NULL
4647	9297020	Disease	p.Arg244Pro	VAR_009323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009323	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	295	COG5022	NULL
4647	9297020	Disease	p.Arg244Pro	VAR_009323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009323	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	215	cd01384	NULL
4647	9297020	Disease	p.Arg244Pro	VAR_009323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009323	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	184	cd01387	NULL
4647	9297020	Disease	p.Arg244Pro	VAR_009323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009323	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	244	cd01377	NULL
4647	9297020	Disease	p.Arg244Pro	VAR_009323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009323	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	185	cd01383	NULL
4647	9297020	Disease	p.Arg244Pro	VAR_009323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009323	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	190	cd01385	NULL
4647	9297020	Disease	p.Arg244Pro	VAR_009323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009323	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	355	smart00242	NULL
4647	9297020	Disease	p.Arg244Pro	VAR_009323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009323	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	260	cd01363	NULL
4647	9297020	Disease	p.Arg244Pro	VAR_009323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009323	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	180	cd01379	NULL
4647	9297020	Disease	p.Arg244Pro	VAR_009323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009323	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	187	cd01386	NULL
4647	9297020	Disease	p.Arg244Pro	VAR_009323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009323	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	283	cd00124	NULL
4647	9297020	Disease	p.Arg244Pro	VAR_009323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009323	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	179	cd01381	NULL
4647	9297020	Disease	p.Arg244Pro	VAR_009323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009323	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	225	cd01380	NULL
4647	9297020	Disease	p.Arg244Pro	VAR_009323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009323	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	325	cd01378	NULL
4647	9297020	Disease	p.Arg244Pro	VAR_009323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009323	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	203	cd01382	NULL
4647	9297020	Disease	p.Arg302His	VAR_009324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009324	rs41298135 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	356	pfam00063	NULL
4647	9297020	Disease	p.Arg302His	VAR_009324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009324	rs41298135 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	355	COG5022	NULL
4647	9297020	Disease	p.Arg302His	VAR_009324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009324	rs41298135 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	274	cd01384	NULL
4647	9297020	Disease	p.Arg302His	VAR_009324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009324	rs41298135 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	242	cd01387	NULL
4647	9297020	Disease	p.Arg302His	VAR_009324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009324	rs41298135 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	309	cd01377	NULL
4647	9297020	Disease	p.Arg302His	VAR_009324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009324	rs41298135 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	244	cd01383	NULL
4647	9297020	Disease	p.Arg302His	VAR_009324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009324	rs41298135 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	249	cd01385	NULL
4647	9297020	Disease	p.Arg302His	VAR_009324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009324	rs41298135 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	487	smart00242	NULL
4647	9297020	Disease	p.Arg302His	VAR_009324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009324	rs41298135 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	318	cd01363	NULL
4647	9297020	Disease	p.Arg302His	VAR_009324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009324	rs41298135 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	245	cd01379	NULL
4647	9297020	Disease	p.Arg302His	VAR_009324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009324	rs41298135 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	248	cd01386	NULL
4647	9297020	Disease	p.Arg302His	VAR_009324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009324	rs41298135 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	387	cd00124	NULL
4647	9297020	Disease	p.Arg302His	VAR_009324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009324	rs41298135 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	239	cd01381	NULL
4647	9297020	Disease	p.Arg302His	VAR_009324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009324	rs41298135 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	286	cd01380	NULL
4647	9297020	Disease	p.Arg302His	VAR_009324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009324	rs41298135 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	389	cd01378	NULL
4647	9297020	Disease	p.Arg302His	VAR_009324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009324	rs41298135 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	287	cd01382	NULL
4647	9297020	Disease	p.Ala397Asp	VAR_009325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009325	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	476	pfam00063	NULL
4647	9297020	Disease	p.Ala397Asp	VAR_009325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009325	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	452	COG5022	NULL
4647	9297020	Disease	p.Ala397Asp	VAR_009325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009325	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	376	cd01384	NULL
4647	9297020	Disease	p.Ala397Asp	VAR_009325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009325	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	338	cd01387	NULL
4647	9297020	Disease	p.Ala397Asp	VAR_009325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009325	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	413	cd01377	NULL
4647	9297020	Disease	p.Ala397Asp	VAR_009325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009325	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	337	cd01383	NULL
4647	9297020	Disease	p.Ala397Asp	VAR_009325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009325	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	346	cd01385	NULL
4647	9297020	Disease	p.Ala397Asp	VAR_009325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009325	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	630	smart00242	NULL
4647	9297020	Disease	p.Ala397Asp	VAR_009325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009325	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	411	cd01363	NULL
4647	9297020	Disease	p.Ala397Asp	VAR_009325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009325	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	342	cd01379	NULL
4647	9297020	Disease	p.Ala397Asp	VAR_009325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009325	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	357	cd01386	NULL
4647	9297020	Disease	p.Ala397Asp	VAR_009325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009325	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	516	cd00124	NULL
4647	9297020	Disease	p.Ala397Asp	VAR_009325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009325	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	335	cd01381	NULL
4647	9297020	Disease	p.Ala397Asp	VAR_009325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009325	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	387	cd01380	NULL
4647	9297020	Disease	p.Ala397Asp	VAR_009325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009325	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	495	cd01378	NULL
4647	9297020	Disease	p.Ala397Asp	VAR_009325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009325	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	430	cd01382	NULL
4647	9297020	Disease	p.Glu450Gln	VAR_009326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009326	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	564	pfam00063	NULL
4647	9297020	Disease	p.Glu450Gln	VAR_009326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009326	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	505	COG5022	NULL
4647	9297020	Disease	p.Glu450Gln	VAR_009326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009326	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	451	cd01384	NULL
4647	9297020	Disease	p.Glu450Gln	VAR_009326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009326	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	387	cd01387	NULL
4647	9297020	Disease	p.Glu450Gln	VAR_009326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009326	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	472	cd01377	NULL
4647	9297020	Disease	p.Glu450Gln	VAR_009326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009326	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	386	cd01383	NULL
4647	9297020	Disease	p.Glu450Gln	VAR_009326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009326	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	401	cd01385	NULL
4647	9297020	Disease	p.Glu450Gln	VAR_009326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009326	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	767	smart00242	NULL
4647	9297020	Disease	p.Glu450Gln	VAR_009326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009326	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	459	cd01363	NULL
4647	9297020	Disease	p.Glu450Gln	VAR_009326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009326	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	435	cd01379	NULL
4647	9297020	Disease	p.Glu450Gln	VAR_009326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009326	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	414	cd01386	NULL
4647	9297020	Disease	p.Glu450Gln	VAR_009326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009326	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	613	cd00124	NULL
4647	9297020	Disease	p.Glu450Gln	VAR_009326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009326	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	388	cd01381	NULL
4647	9297020	Disease	p.Glu450Gln	VAR_009326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009326	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	444	cd01380	NULL
4647	9297020	Disease	p.Glu450Gln	VAR_009326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009326	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	549	cd01378	NULL
4647	9297020	Disease	p.Glu450Gln	VAR_009326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009326	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	477	cd01382	NULL
4647	9297020	Disease	p.Ala457Val	VAR_024046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024046	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	571	pfam00063	NULL
4647	9297020	Disease	p.Ala457Val	VAR_024046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024046	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	512	COG5022	NULL
4647	9297020	Disease	p.Ala457Val	VAR_024046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024046	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	458	cd01384	NULL
4647	9297020	Disease	p.Ala457Val	VAR_024046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024046	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	394	cd01387	NULL
4647	9297020	Disease	p.Ala457Val	VAR_024046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024046	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	479	cd01377	NULL
4647	9297020	Disease	p.Ala457Val	VAR_024046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024046	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	393	cd01383	NULL
4647	9297020	Disease	p.Ala457Val	VAR_024046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024046	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	408	cd01385	NULL
4647	9297020	Disease	p.Ala457Val	VAR_024046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024046	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	774	smart00242	NULL
4647	9297020	Disease	p.Ala457Val	VAR_024046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024046	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	466	cd01363	NULL
4647	9297020	Disease	p.Ala457Val	VAR_024046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024046	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	442	cd01379	NULL
4647	9297020	Disease	p.Ala457Val	VAR_024046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024046	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	421	cd01386	NULL
4647	9297020	Disease	p.Ala457Val	VAR_024046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024046	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	620	cd00124	NULL
4647	9297020	Disease	p.Ala457Val	VAR_024046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024046	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	395	cd01381	NULL
4647	9297020	Disease	p.Ala457Val	VAR_024046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024046	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	451	cd01380	NULL
4647	9297020	Disease	p.Ala457Val	VAR_024046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024046	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	556	cd01378	NULL
4647	9297020	Disease	p.Ala457Val	VAR_024046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024046	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	484	cd01382	NULL
4647	9297020	Disease	p.Asn458Ile	VAR_027306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027306	rs28934903 Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	572	pfam00063	NULL
4647	9297020	Disease	p.Asn458Ile	VAR_027306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027306	rs28934903 Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	513	COG5022	NULL
4647	9297020	Disease	p.Asn458Ile	VAR_027306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027306	rs28934903 Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	459	cd01384	NULL
4647	9297020	Disease	p.Asn458Ile	VAR_027306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027306	rs28934903 Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	395	cd01387	NULL
4647	9297020	Disease	p.Asn458Ile	VAR_027306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027306	rs28934903 Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	480	cd01377	NULL
4647	9297020	Disease	p.Asn458Ile	VAR_027306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027306	rs28934903 Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	394	cd01383	NULL
4647	9297020	Disease	p.Asn458Ile	VAR_027306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027306	rs28934903 Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	409	cd01385	NULL
4647	9297020	Disease	p.Asn458Ile	VAR_027306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027306	rs28934903 Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	775	smart00242	NULL
4647	9297020	Disease	p.Asn458Ile	VAR_027306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027306	rs28934903 Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	467	cd01363	NULL
4647	9297020	Disease	p.Asn458Ile	VAR_027306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027306	rs28934903 Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	443	cd01379	NULL
4647	9297020	Disease	p.Asn458Ile	VAR_027306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027306	rs28934903 Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	422	cd01386	NULL
4647	9297020	Disease	p.Asn458Ile	VAR_027306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027306	rs28934903 Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	621	cd00124	NULL
4647	9297020	Disease	p.Asn458Ile	VAR_027306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027306	rs28934903 Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	396	cd01381	NULL
4647	9297020	Disease	p.Asn458Ile	VAR_027306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027306	rs28934903 Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	452	cd01380	NULL
4647	9297020	Disease	p.Asn458Ile	VAR_027306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027306	rs28934903 Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	557	cd01378	NULL
4647	9297020	Disease	p.Asn458Ile	VAR_027306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027306	rs28934903 Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	485	cd01382	NULL
4647	9297020	Disease	p.Pro503Leu	VAR_009328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009328	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	621	pfam00063	NULL
4647	9297020	Disease	p.Pro503Leu	VAR_009328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009328	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	561	COG5022	NULL
4647	9297020	Disease	p.Pro503Leu	VAR_009328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009328	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	508	cd01384	NULL
4647	9297020	Disease	p.Pro503Leu	VAR_009328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009328	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	440	cd01387	NULL
4647	9297020	Disease	p.Pro503Leu	VAR_009328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009328	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	528	cd01377	NULL
4647	9297020	Disease	p.Pro503Leu	VAR_009328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009328	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	439	cd01383	NULL
4647	9297020	Disease	p.Pro503Leu	VAR_009328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009328	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	462	cd01385	NULL
4647	9297020	Disease	p.Pro503Leu	VAR_009328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009328	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	856	smart00242	NULL
4647	9297020	Disease	p.Pro503Leu	VAR_009328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009328	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	512	cd01363	NULL
4647	9297020	Disease	p.Pro503Leu	VAR_009328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009328	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	488	cd01379	NULL
4647	9297020	Disease	p.Pro503Leu	VAR_009328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009328	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	478	cd01386	NULL
4647	9297020	Disease	p.Pro503Leu	VAR_009328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009328	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	683	cd00124	NULL
4647	9297020	Disease	p.Pro503Leu	VAR_009328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009328	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	441	cd01381	NULL
4647	9297020	Disease	p.Pro503Leu	VAR_009328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009328	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	496_G	cd01380	NULL
4647	9297020	Disease	p.Pro503Leu	VAR_009328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009328	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	604	cd01378	NULL
4647	9297020	Disease	p.Pro503Leu	VAR_009328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009328	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	530	cd01382	NULL
4647	9297020	Disease	p.Gly519Asp	VAR_024047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024047	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	637	pfam00063	NULL
4647	9297020	Disease	p.Gly519Asp	VAR_024047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024047	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	577	COG5022	NULL
4647	9297020	Disease	p.Gly519Asp	VAR_024047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024047	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	524	cd01384	NULL
4647	9297020	Disease	p.Gly519Asp	VAR_024047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024047	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	456	cd01387	NULL
4647	9297020	Disease	p.Gly519Asp	VAR_024047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024047	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	544	cd01377	NULL
4647	9297020	Disease	p.Gly519Asp	VAR_024047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024047	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	455	cd01383	NULL
4647	9297020	Disease	p.Gly519Asp	VAR_024047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024047	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	478	cd01385	NULL
4647	9297020	Disease	p.Gly519Asp	VAR_024047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024047	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	906	smart00242	NULL
4647	9297020	Disease	p.Gly519Asp	VAR_024047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024047	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	528	cd01363	NULL
4647	9297020	Disease	p.Gly519Asp	VAR_024047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024047	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	504	cd01379	NULL
4647	9297020	Disease	p.Gly519Asp	VAR_024047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024047	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	540	cd01386	NULL
4647	9297020	Disease	p.Gly519Asp	VAR_024047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024047	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	703	cd00124	NULL
4647	9297020	Disease	p.Gly519Asp	VAR_024047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024047	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	457	cd01381	NULL
4647	9297020	Disease	p.Gly519Asp	VAR_024047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024047	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	512	cd01380	NULL
4647	9297020	Disease	p.Gly519Asp	VAR_024047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024047	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	625	cd01378	NULL
4647	9297020	Disease	p.Gly519Asp	VAR_024047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024047	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	546	cd01382	NULL
4647	9297020	Disease	p.Met599Ile	VAR_009330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009330	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	801	pfam00063	NULL
4647	9297020	Disease	p.Met599Ile	VAR_009330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009330	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	672	COG5022	NULL
4647	9297020	Disease	p.Met599Ile	VAR_009330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009330	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	605	cd01384	NULL
4647	9297020	Disease	p.Met599Ile	VAR_009330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009330	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	535	cd01387	NULL
4647	9297020	Disease	p.Met599Ile	VAR_009330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009330	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	665	cd01377	NULL
4647	9297020	Disease	p.Met599Ile	VAR_009330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009330	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	545	cd01383	NULL
4647	9297020	Disease	p.Met599Ile	VAR_009330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009330	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	692	cd01385	NULL
4647	9297020	Disease	p.Met599Ile	VAR_009330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009330	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	1085	smart00242	NULL
4647	9297020	Disease	p.Met599Ile	VAR_009330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009330	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	609	cd01363	NULL
4647	9297020	Disease	p.Met599Ile	VAR_009330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009330	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	593	cd01379	NULL
4647	9297020	Disease	p.Met599Ile	VAR_009330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009330	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	636	cd01386	NULL
4647	9297020	Disease	p.Met599Ile	VAR_009330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009330	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	955	cd00124	NULL
4647	9297020	Disease	p.Met599Ile	VAR_009330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009330	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	541	cd01381	NULL
4647	9297020	Disease	p.Met599Ile	VAR_009330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009330	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	628	cd01380	NULL
4647	9297020	Disease	p.Met599Ile	VAR_009330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009330	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	742	cd01378	NULL
4647	9297020	Disease	p.Met599Ile	VAR_009330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009330	- Deafness autosomal recessive type 2 (DFNB2) [MIM:600060]	SWISS	640	cd01382	NULL
4647	9297020	Disease	p.Leu651Pro	VAR_009331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009331	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	858	pfam00063	NULL
4647	9297020	Disease	p.Leu651Pro	VAR_009331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009331	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	732	COG5022	NULL
4647	9297020	Disease	p.Leu651Pro	VAR_009331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009331	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	680	cd01384	NULL
4647	9297020	Disease	p.Leu651Pro	VAR_009331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009331	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	601	cd01387	NULL
4647	9297020	Disease	p.Leu651Pro	VAR_009331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009331	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	720	cd01377	NULL
4647	9297020	Disease	p.Leu651Pro	VAR_009331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009331	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	595	cd01383	NULL
4647	9297020	Disease	p.Leu651Pro	VAR_009331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009331	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	744	cd01385	NULL
4647	9297020	Disease	p.Leu651Pro	VAR_009331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009331	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	1361	smart00242	NULL
4647	9297020	Disease	p.Leu651Pro	VAR_009331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009331	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	933	cd01379	NULL
4647	9297020	Disease	p.Leu651Pro	VAR_009331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009331	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	727	cd01386	NULL
4647	9297020	Disease	p.Leu651Pro	VAR_009331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009331	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	1044	cd00124	NULL
4647	9297020	Disease	p.Leu651Pro	VAR_009331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009331	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	593	cd01381	NULL
4647	9297020	Disease	p.Leu651Pro	VAR_009331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009331	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	680	cd01380	NULL
4647	9297020	Disease	p.Leu651Pro	VAR_009331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009331	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	794	cd01378	NULL
4647	9297020	Disease	p.Leu651Pro	VAR_009331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009331	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	695	cd01382	NULL
4647	9297020	Disease	p.Gly722Arg	VAR_027307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027307	- Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	947	pfam00063	NULL
4647	9297020	Disease	p.Gly722Arg	VAR_027307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027307	- Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	810	COG5022	NULL
4647	9297020	Disease	p.Gly722Arg	VAR_027307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027307	- Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	792	cd01384	NULL
4647	9297020	Disease	p.Gly722Arg	VAR_027307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027307	- Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	673	cd01387	NULL
4647	9297020	Disease	p.Gly722Arg	VAR_027307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027307	- Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	808	cd01377	NULL
4647	9297020	Disease	p.Gly722Arg	VAR_027307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027307	- Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	663	cd01383	NULL
4647	9297020	Disease	p.Gly722Arg	VAR_027307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027307	- Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	811	cd01385	NULL
4647	9297020	Disease	p.Gly722Arg	VAR_027307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027307	- Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	1500	smart00242	NULL
4647	9297020	Disease	p.Gly722Arg	VAR_027307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027307	- Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	1080	cd01379	NULL
4647	9297020	Disease	p.Gly722Arg	VAR_027307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027307	- Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	827	cd01386	NULL
4647	9297020	Disease	p.Gly722Arg	VAR_027307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027307	- Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	1140	cd00124	NULL
4647	9297020	Disease	p.Gly722Arg	VAR_027307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027307	- Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	664	cd01381	NULL
4647	9297020	Disease	p.Gly722Arg	VAR_027307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027307	- Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	763	cd01380	NULL
4647	9297020	Disease	p.Gly722Arg	VAR_027307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027307	- Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	871	cd01378	NULL
4647	9297020	Disease	p.Gly722Arg	VAR_027307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027307	- Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	922	cd01382	NULL
4647	9297020	Disease	p.Arg756Trp	VAR_024048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024048	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	845	COG5022	NULL
4647	9297020	Disease	p.Arg756Trp	VAR_024048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024048	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	1113	cd01379	NULL
4647	9297020	Disease	p.Ala826Thr	VAR_009332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009332	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	930	COG5022	NULL
4647	9297020	Disease	p.Arg853Cys	VAR_027308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027308	- Deafness autosomal dominant type 11 (DFNA11) [MIM:601317]	SWISS	969	COG5022	NULL
4647	9297020	Disease	p.Gly955Ser	VAR_009334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009334	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	1142	COG5022	NULL
4647	9297020	Disease	p.Glu968Asp	VAR_024049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024049	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	1153	COG5022	NULL
4647	9297020	Disease	p.Leu1087Pro	VAR_009335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009335	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	1310	COG5022	NULL
4647	9297020	Disease	p.Leu1087Pro	VAR_009335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009335	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	197	smart00139	NULL
4647	9297020	Disease	p.Glu1170Lys	VAR_009336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009336	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	1413	COG5022	NULL
4647	9297020	Disease	p.Glu1170Lys	VAR_009336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009336	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	23	pfam00784	NULL
4647	9297020	Disease	p.Glu1170Lys	VAR_009336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009336	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	285	smart00139	NULL
4647	9297020	Disease	p.Arg1240Gln	VAR_009337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009337	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	1483	COG5022	NULL
4647	9297020	Disease	p.Arg1240Gln	VAR_009337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009337	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	109	pfam00784	NULL
4647	9297020	Disease	p.Arg1240Gln	VAR_009337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009337	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	476	smart00139	NULL
4647	9297020	Disease	p.Ala1288Pro	VAR_009338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009338	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	75	smart00295	NULL
4647	9297020	Disease	p.Ala1288Pro	VAR_009338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009338	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	1546	COG5022	NULL
4647	9297020	Disease	p.Glu1327Lys	VAR_027309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027309	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	297	smart00295	NULL
4647	9297020	Disease	p.Glu1327Lys	VAR_027309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027309	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	1588	COG5022	NULL
4647	9297020	Disease	p.Arg1343Ser	VAR_009339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009339	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	365	smart00295	NULL
4647	9297020	Disease	p.Arg1343Ser	VAR_009339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009339	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	1604	COG5022	NULL
4647	9297020	Disease	p.Thr1566Met	VAR_027311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027311	rs41298747 Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	No Domain	N/A	NULL
4647	9297020	Disease	p.Arg1602Gln	VAR_009340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009340	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	No Domain	N/A	NULL
4647	9297020	Disease	p.Ala1628Ser	VAR_009341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009341	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	39	smart00326	NULL
4647	9297020	Disease	p.Ala1628Ser	VAR_009341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009341	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	32	cd00174	NULL
4647	9297020	Disease	p.Tyr1719Cys	VAR_009344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009344	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	No Domain	N/A	NULL
4647	9297020	Disease	p.Arg1743Trp	VAR_024051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024051	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	No Domain	N/A	NULL
4647	9297020	Disease	p.Leu1858Pro	VAR_024052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024052	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	391	smart00139	NULL
4647	9297020	Disease	p.Leu1858Pro	VAR_024052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024052	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	72	pfam00784	NULL
4647	9297020	Disease	p.Arg1873Trp	VAR_027314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027314	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	453	smart00139	NULL
4647	9297020	Disease	p.Arg1873Trp	VAR_027314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027314	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	95	pfam00784	NULL
4647	9297020	Disease	p.Arg1883Gln	VAR_024053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024053	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	476	smart00139	NULL
4647	9297020	Disease	p.Arg1883Gln	VAR_024053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024053	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	109	pfam00784	NULL
4647	9297020	Disease	p.Pro1887Leu	VAR_024054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024054	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	480	smart00139	NULL
4647	9297020	Disease	p.Pro1887Leu	VAR_024054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024054	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	113	pfam00784	NULL
4647	9297020	Disease	p.Gly2137Glu	VAR_009347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009347	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	No Domain	N/A	NULL
4647	9297020	Disease	p.Gly2163Ser	VAR_009348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009348	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	No Domain	N/A	NULL
4647	9297020	Disease	p.Gly2187Asp	VAR_024055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024055	- Usher syndrome type 1B (USH1B) [MIM:276900]	SWISS	No Domain	N/A	NULL
4653	3024209	Disease	p.Cys25Arg	VAR_054271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054271	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	No Domain	N/A	4557779,NP_000252
4653	3024209	Disease	p.Gln48His	VAR_054272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054272	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	No Domain	N/A	4557779,NP_000252
4653	3024209	Disease	p.Val53Ala	VAR_008969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008969	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	No Domain	N/A	4557779,NP_000252
4653	3024209	Disease	p.Arg82Cys	VAR_009671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009671	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	No Domain	N/A	4557779,NP_000252
4653	3024209	Disease	p.Arg126Trp	VAR_054277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054277	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	No Domain	N/A	4557779,NP_000252
4653	3024209	Disease	p.Arg158Gln	VAR_054278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054278	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	No Domain	N/A	4557779,NP_000252
4653	3024209	Disease	p.Asp208Glu	VAR_014943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014943	rs2234927 Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	No Domain	N/A	4557779,NP_000252
4653	3024209	Disease	p.Gly244Val	VAR_054280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054280	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	No Domain	N/A	4557779,NP_000252
4653	3024209	Disease	p.Cys245Tyr	VAR_054281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054281	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	No Domain	N/A	4557779,NP_000252
4653	3024209	Disease	p.Gly246Arg	VAR_005468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005468	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	No Domain	N/A	4557779,NP_000252
4653	3024209	Disease	p.Val251Ala	VAR_054282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054282	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	6	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Val251Ala	VAR_054282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054282	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	5	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Gly252Arg	VAR_054283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054283	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	7	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Gly252Arg	VAR_054283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054283	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	6	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Glu261Lys	VAR_054284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054284	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	16	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Glu261Lys	VAR_054284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054284	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	20	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Arg272Gly	VAR_054285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054285	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	30	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Arg272Gly	VAR_054285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054285	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	31	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Pro274Arg	VAR_054286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054286	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	32	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Pro274Arg	VAR_054286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054286	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	33	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Trp286Arg	VAR_009675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009675	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	44	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Trp286Arg	VAR_009675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009675	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	47	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Thr293Lys	VAR_009676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009676	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	53	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Thr293Lys	VAR_009676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009676	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	56	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Glu300Lys	VAR_054287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054287	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	60	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Glu300Lys	VAR_054287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054287	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	66	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Glu323Lys	VAR_054288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054288	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	93	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Glu323Lys	VAR_054288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054288	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	115	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Gln337Glu	VAR_054289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054289	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	107	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Gln337Glu	VAR_054289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054289	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	131	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Gln337Arg	VAR_005469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005469	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	107	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Gln337Arg	VAR_005469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005469	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	131	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Ser341Pro	VAR_054290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054290	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	111	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Ser341Pro	VAR_054290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054290	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	147	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Arg342Lys	VAR_054291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054291	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	112	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Arg342Lys	VAR_054291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054291	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	148	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Ile345Met	VAR_054292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054292	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	115	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Ile345Met	VAR_054292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054292	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	151	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Glu352Lys	VAR_009678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009678	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	122	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Glu352Lys	VAR_009678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009678	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	158	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Thr353Ile	VAR_009679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009679	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	123	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Thr353Ile	VAR_009679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009679	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	159	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Ile360Asn	VAR_054293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054293	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	130	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Ile360Asn	VAR_054293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054293	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	166	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Pro361Ser	VAR_009680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009680	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	131	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Pro361Ser	VAR_009680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009680	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	167	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Ala363Thr	VAR_054294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054294	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	133	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Ala363Thr	VAR_054294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054294	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	169	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Gly364Val	VAR_005470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005470	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	134	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Gly364Val	VAR_005470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005470	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	171	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Gly367Arg	VAR_005471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005471	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	137	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Gly367Arg	VAR_005471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005471	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	176	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Phe369Leu	VAR_054295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054295	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	139	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Phe369Leu	VAR_054295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054295	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	178	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Pro370Leu	VAR_005472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005472	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	140	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Pro370Leu	VAR_005472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005472	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	179	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Thr377Lys	VAR_054296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054296	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	147	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Thr377Lys	VAR_054296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054296	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	186	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Thr377Met	VAR_009681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009681	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	147	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Thr377Met	VAR_009681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009681	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	186	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Asp380Ala	VAR_009682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009682	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	150	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Asp380Ala	VAR_009682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009682	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	189	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Asp380Gly	VAR_009683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009683	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	150	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Asp380Gly	VAR_009683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009683	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	189	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Asp380His	VAR_054297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054297	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	150	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Asp380His	VAR_054297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054297	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	189	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Asp380Asn	VAR_054298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054298	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	150	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Asp380Asn	VAR_054298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054298	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	189	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Ser393Asn	VAR_054299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054299	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	163	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Ser393Asn	VAR_054299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054299	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	202	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Ser393Arg	VAR_009684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009684	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	163	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Ser393Arg	VAR_009684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009684	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	202	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Gly399Val	VAR_054300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054300	rs28936694 Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	169	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Gly399Val	VAR_054300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054300	rs28936694 Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	208	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Arg422His	VAR_009688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009688	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	192	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Arg422His	VAR_009688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009688	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	239	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Lys423Glu	VAR_009689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009689	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	193	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Lys423Glu	VAR_009689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009689	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	240	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Val426Phe	VAR_005473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005473	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	196	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Val426Phe	VAR_005473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005473	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	243	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Ala427Thr	VAR_054302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054302	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	197	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Ala427Thr	VAR_054302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054302	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	244	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Cys433Arg	VAR_008970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008970	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	203	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Cys433Arg	VAR_008970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008970	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	250	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Gly434Ser	VAR_054303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054303	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	204	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Gly434Ser	VAR_054303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054303	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	251	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Tyr437His	VAR_005474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005474	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	207	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Tyr437His	VAR_005474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005474	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	254	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Thr438Ile	VAR_054304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054304	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	208	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Thr438Ile	VAR_054304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054304	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	255	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Ala445Val	VAR_009691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009691	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	221	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Ala445Val	VAR_009691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009691	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	262	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Thr448Pro	VAR_054305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054305	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	224	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Thr448Pro	VAR_054305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054305	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	275	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Asn450Asp	VAR_054306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054306	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	226	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Asn450Asp	VAR_054306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054306	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	277	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Ile465Met	VAR_009692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009692	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	241	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Ile465Met	VAR_009692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009692	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	295	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Arg470Cys	VAR_009693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009693	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	246	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Arg470Cys	VAR_009693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009693	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	300	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Tyr471Cys	VAR_054308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054308	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	247	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Tyr471Cys	VAR_054308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054308	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	301	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Ile477Asn	VAR_009695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009695	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	253	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Ile477Asn	VAR_009695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009695	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	307	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Ile477Ser	VAR_005475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005475	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	253	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Ile477Ser	VAR_005475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005475	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	307	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Asn480Lys	VAR_005476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005476	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	256	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Asn480Lys	VAR_005476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005476	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	310	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Pro481Leu	VAR_009696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009696	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	257	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Pro481Leu	VAR_009696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009696	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	311	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Pro481Thr	VAR_009697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009697	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	257	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Pro481Thr	VAR_009697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009697	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	311	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Ile499Phe	VAR_005477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005477	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	275	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Ile499Phe	VAR_005477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005477	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	329	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Ile499Ser	VAR_054309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054309	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	275	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Ile499Ser	VAR_054309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054309	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	329	pfam02191	4557779,NP_000252
4653	3024209	Disease	p.Ser502Pro	VAR_009700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009700	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	278	smart00284	4557779,NP_000252
4653	3024209	Disease	p.Ser502Pro	VAR_009700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009700	- Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]	SWISS	332	pfam02191	4557779,NP_000252
9499	311033402	Disease	p.Ser39Phe	VAR_029532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029532	- Spheroid body myopathy (SBM) [MIM:182920]	SWISS	No Domain	N/A	NULL
9499	311033402	Disease	p.Ser55Phe	VAR_021569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021569	- Limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:159000]	SWISS	No Domain	N/A	NULL
9499	311033402	Disease	p.Ser55Phe	VAR_021569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021569	- Myopathy myofibrillar myotylin-related (MFM-MYOT) [MIM:609200]	SWISS	No Domain	N/A	NULL
9499	311033402	Disease	p.Thr57Ile	VAR_021570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021570	rs28937597 Limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:159000]	SWISS	No Domain	N/A	NULL
9499	311033402	Disease	p.Ser60Cys	VAR_021571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021571	- Myopathy myofibrillar myotylin-related (MFM-MYOT) [MIM:609200]	SWISS	No Domain	N/A	NULL
9499	311033402	Disease	p.Ser60Phe	VAR_021572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021572	- Myopathy myofibrillar myotylin-related (MFM-MYOT) [MIM:609200]	SWISS	No Domain	N/A	NULL
9499	311033402	Disease	p.Ser95Ile	VAR_021573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021573	- Myopathy myofibrillar myotylin-related (MFM-MYOT) [MIM:609200]	SWISS	No Domain	N/A	NULL
4668	127801	Disease	p.Ser160Cys	VAR_000496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000496	- Schindler disease [MIM:609241]	SWISS	226	pfam02065	4557781,NP_000253
4668	127801	Disease	p.Glu325Lys	VAR_000497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000497	- Schindler disease [MIM:609241]	SWISS	406	pfam02065	4557781,NP_000253
4668	127801	Disease	p.Arg329Gln	VAR_022525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022525	- Kanzaki disease [MIM:609242]	SWISS	411	pfam02065	4557781,NP_000253
4668	127801	Disease	p.Arg329Trp	VAR_000498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000498	- Kanzaki disease [MIM:609242]	SWISS	411	pfam02065	4557781,NP_000253
4669	1703303	Disease	p.Leu35Phe	VAR_054699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054699	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	No Domain	N/A	NULL
4669	1703303	Disease	p.Arg38Trp	VAR_054700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054700	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	No Domain	N/A	NULL
4669	1703303	Disease	p.Phe48Cys	VAR_054701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054701	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	No Domain	N/A	NULL
4669	1703303	Disease	p.Phe48Leu	VAR_025489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025489	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	No Domain	N/A	NULL
4669	1703303	Disease	p.Gly69Ser	VAR_054702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054702	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	No Domain	N/A	NULL
4669	1703303	Disease	p.Val77Gly	VAR_054703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054703	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	9	pfam05089	NULL
4669	1703303	Disease	p.Gly79Cys	VAR_008979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008979	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	11	pfam05089	NULL
4669	1703303	Disease	p.Gly79Ser	VAR_054704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054704	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	11	pfam05089	NULL
4669	1703303	Disease	p.Gly82Asp	VAR_054705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054705	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	14	pfam05089	NULL
4669	1703303	Disease	p.Tyr92His	VAR_005007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005007	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	24	pfam05089	NULL
4669	1703303	Disease	p.His100Arg	VAR_008980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008980	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	32	pfam05089	NULL
4669	1703303	Disease	p.Pro115Ser	VAR_005008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005008	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	59	pfam05089	NULL
4669	1703303	Disease	p.Arg130Cys	VAR_054706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054706	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	77	pfam05089	NULL
4669	1703303	Disease	p.Tyr140Cys	VAR_005009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005009	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	87	pfam05089	NULL
4669	1703303	Disease	p.Glu153Lys	VAR_005010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005010	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	100	pfam05089	NULL
4669	1703303	Disease	p.Ile154Arg	VAR_054707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054707	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	101	pfam05089	NULL
4669	1703303	Disease	p.Trp156Cys	VAR_054708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054708	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	103	pfam05089	NULL
4669	1703303	Disease	p.His227Pro	VAR_054709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054709	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	175	pfam05089	NULL
4669	1703303	Disease	p.Arg234Cys	VAR_054710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054710	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	182	pfam05089	NULL
4669	1703303	Disease	p.Val241Met	VAR_054711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054711	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	189	pfam05089	NULL
4669	1703303	Disease	p.Leu242Pro	VAR_054712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054712	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	190	pfam05089	NULL
4669	1703303	Disease	p.Pro243Leu	VAR_008982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008982	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	191	pfam05089	NULL
4669	1703303	Disease	p.Ala246Pro	VAR_054713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054713	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	194	pfam05089	NULL
4669	1703303	Disease	p.His248Arg	VAR_054714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054714	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	196	pfam05089	NULL
4669	1703303	Disease	p.Trp268Arg	VAR_054715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054715	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	217	pfam05089	NULL
4669	1703303	Disease	p.Cys277Phe	VAR_008983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008983	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	228	pfam05089	NULL
4669	1703303	Disease	p.Leu280Pro	VAR_008984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008984	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	231	pfam05089	NULL
4669	1703303	Disease	p.Gly292Arg	VAR_008985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008985	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	248	pfam05089	NULL
4669	1703303	Disease	p.Tyr309Cys	VAR_054716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054716	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	268	pfam05089	NULL
4669	1703303	Disease	p.Phe314Leu	VAR_025490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025490	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	273	pfam05089	NULL
4669	1703303	Disease	p.Val334Phe	VAR_054717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054717	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	324	pfam05089	NULL
4669	1703303	Disease	p.Tyr335Cys	VAR_054718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054718	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	325	pfam05089	NULL
4669	1703303	Disease	p.Pro358Leu	VAR_005011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005011	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	349	pfam05089	NULL
4669	1703303	Disease	p.Phe410Ser	VAR_054719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054719	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	433	pfam05089	NULL
4669	1703303	Disease	p.Gly412Glu	VAR_054720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054720	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	435	pfam05089	NULL
4669	1703303	Disease	p.His414Arg	VAR_054721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054721	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	437	pfam05089	NULL
4669	1703303	Disease	p.Thr437Ile	VAR_054722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054722	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	464	pfam05089	NULL
4669	1703303	Disease	p.Glu446Lys	VAR_054723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054723	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	473	pfam05089	NULL
4669	1703303	Disease	p.Glu452Lys	VAR_008986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008986	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	479	pfam05089	NULL
4669	1703303	Disease	p.Tyr455Cys	VAR_054724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054724	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	482	pfam05089	NULL
4669	1703303	Disease	p.Trp474Gly	VAR_054725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054725	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	508	pfam05089	NULL
4669	1703303	Disease	p.Arg482Gln	VAR_054726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054726	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	516	pfam05089	NULL
4669	1703303	Disease	p.Arg482Trp	VAR_008987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008987	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	516	pfam05089	NULL
4669	1703303	Disease	p.Val501Gly	VAR_054727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054727	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	549	pfam05089	NULL
4669	1703303	Disease	p.Pro516Leu	VAR_054728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054728	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	569	pfam05089	NULL
4669	1703303	Disease	p.Arg520Trp	VAR_054729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054729	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	573	pfam05089	NULL
4669	1703303	Disease	p.Pro521Leu	VAR_025491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025491	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	574	pfam05089	NULL
4669	1703303	Disease	p.Ser534Tyr	VAR_054730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054730	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	629	pfam05089	NULL
4669	1703303	Disease	p.Leu560Pro	VAR_054731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054731	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	662	pfam05089	NULL
4669	1703303	Disease	p.Leu561Arg	VAR_008988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008988	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	663	pfam05089	NULL
4669	1703303	Disease	p.Arg565Pro	VAR_025492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025492	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	667	pfam05089	NULL
4669	1703303	Disease	p.Arg565Gln	VAR_008989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008989	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	667	pfam05089	NULL
4669	1703303	Disease	p.Arg565Trp	VAR_025493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025493	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	667	pfam05089	NULL
4669	1703303	Disease	p.Leu591Pro	VAR_054732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054732	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	694	pfam05089	NULL
4669	1703303	Disease	p.Ser612Gly	VAR_054733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054733	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	715	pfam05089	NULL
4669	1703303	Disease	p.Leu617Phe	VAR_054734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054734	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	720	pfam05089	NULL
4669	1703303	Disease	p.Arg643Cys	VAR_025494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025494	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	804	pfam05089	NULL
4669	1703303	Disease	p.Arg643His	VAR_005012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005012	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	804	pfam05089	NULL
4669	1703303	Disease	p.Trp649Cys	VAR_054735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054735	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	810	pfam05089	NULL
4669	1703303	Disease	p.Gly650Glu	VAR_054736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054736	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	816	pfam05089	NULL
4669	1703303	Disease	p.Tyr658Phe	VAR_054737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054737	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	832	pfam05089	NULL
4669	1703303	Disease	p.Ala664Val	VAR_005013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005013	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	838	pfam05089	NULL
4669	1703303	Disease	p.Arg674Cys	VAR_054738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054738	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	848	pfam05089	NULL
4669	1703303	Disease	p.Arg674His	VAR_005014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005014	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	848	pfam05089	NULL
4669	1703303	Disease	p.Arg676Pro	VAR_054739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054739	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	850	pfam05089	NULL
4669	1703303	Disease	p.Leu682Arg	VAR_005015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005015	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	856	pfam05089	NULL
4669	1703303	Disease	p.Glu705Lys	VAR_008990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008990	- Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]	SWISS	908	pfam05089	NULL
162417	74714699	Disease	p.Cys200Arg	VAR_023505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023505	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	86	cd04238	23308587,NP_694551
162417	74714699	Disease	p.Cys200Arg	VAR_023505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023505	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	96	cd04250	23308587,NP_694551
162417	74714699	Disease	p.Cys200Arg	VAR_023505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023505	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	77	cd04252	23308587,NP_694551
162417	74714699	Disease	p.Cys200Arg	VAR_023505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023505	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	103	cd04236	23308587,NP_694551
162417	74714699	Disease	p.Cys200Arg	VAR_023505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023505	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	90	COG0548	23308587,NP_694551
162417	74714699	Disease	p.Cys200Arg	VAR_023505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023505	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	224	COG5630	23308587,NP_694551
162417	74714699	Disease	p.Cys200Arg	VAR_023505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023505	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	158	cd02115	23308587,NP_694551
162417	74714699	Disease	p.Ala279Pro	VAR_023506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023506	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	193	cd04238	23308587,NP_694551
162417	74714699	Disease	p.Ala279Pro	VAR_023506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023506	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	203	cd04250	23308587,NP_694551
162417	74714699	Disease	p.Ala279Pro	VAR_023506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023506	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	161	cd04252	23308587,NP_694551
162417	74714699	Disease	p.Ala279Pro	VAR_023506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023506	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	183	cd04236	23308587,NP_694551
162417	74714699	Disease	p.Ala279Pro	VAR_023506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023506	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	194	COG0548	23308587,NP_694551
162417	74714699	Disease	p.Ala279Pro	VAR_023506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023506	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	303	COG5630	23308587,NP_694551
162417	74714699	Disease	p.Ala279Pro	VAR_023506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023506	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	305	cd02115	23308587,NP_694551
162417	74714699	Disease	p.Ser410Pro	VAR_023507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023507	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	89	pfam04768	23308587,NP_694551
162417	74714699	Disease	p.Ser410Pro	VAR_023507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023507	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	435	COG5630	23308587,NP_694551
162417	74714699	Disease	p.Ser410Pro	VAR_023507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023507	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	6	cd04263	23308587,NP_694551
162417	74714699	Disease	p.Ser410Pro	VAR_023507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023507	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	6	cd04266	23308587,NP_694551
162417	74714699	Disease	p.Ser410Pro	VAR_023507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023507	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	6	cd04265	23308587,NP_694551
162417	74714699	Disease	p.Ser410Pro	VAR_023507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023507	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	6	cd03173	23308587,NP_694551
162417	74714699	Disease	p.Ser410Pro	VAR_023507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023507	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	6	cd04264	23308587,NP_694551
162417	74714699	Disease	p.Leu430Pro	VAR_023508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023508	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	113	pfam04768	23308587,NP_694551
162417	74714699	Disease	p.Leu430Pro	VAR_023508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023508	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	455	COG5630	23308587,NP_694551
162417	74714699	Disease	p.Leu430Pro	VAR_023508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023508	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	29	cd04263	23308587,NP_694551
162417	74714699	Disease	p.Leu430Pro	VAR_023508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023508	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	26	cd04266	23308587,NP_694551
162417	74714699	Disease	p.Leu430Pro	VAR_023508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023508	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	30	cd04265	23308587,NP_694551
162417	74714699	Disease	p.Leu430Pro	VAR_023508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023508	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	34	cd03173	23308587,NP_694551
162417	74714699	Disease	p.Leu430Pro	VAR_023508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023508	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	30	cd04264	23308587,NP_694551
162417	74714699	Disease	p.Trp484Arg	VAR_023509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023509	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	216	pfam04768	23308587,NP_694551
162417	74714699	Disease	p.Trp484Arg	VAR_023509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023509	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	515	COG5630	23308587,NP_694551
162417	74714699	Disease	p.Trp484Arg	VAR_023509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023509	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	94	cd04263	23308587,NP_694551
162417	74714699	Disease	p.Trp484Arg	VAR_023509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023509	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	115	cd04266	23308587,NP_694551
162417	74714699	Disease	p.Trp484Arg	VAR_023509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023509	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	103	cd04265	23308587,NP_694551
162417	74714699	Disease	p.Trp484Arg	VAR_023509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023509	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	91	cd03173	23308587,NP_694551
162417	74714699	Disease	p.Trp484Arg	VAR_023509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023509	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	108	cd04264	23308587,NP_694551
162417	74714699	Disease	p.Ala518Thr	VAR_023510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023510	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	279	pfam04768	23308587,NP_694551
162417	74714699	Disease	p.Ala518Thr	VAR_023510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023510	- N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]	SWISS	570	COG5630	23308587,NP_694551
653361	127946	Disease	p.Arg42Gln	VAR_012476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012476	- Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 1 (CGD1) [MIM:233700]	SWISS	37	cd06887	NULL
653361	127946	Disease	p.Arg42Gln	VAR_012476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012476	- Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 1 (CGD1) [MIM:233700]	SWISS	38	cd06884	NULL
653361	127946	Disease	p.Arg42Gln	VAR_012476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012476	- Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 1 (CGD1) [MIM:233700]	SWISS	52	cd06888	NULL
653361	127946	Disease	p.Arg42Gln	VAR_012476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012476	- Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 1 (CGD1) [MIM:233700]	SWISS	96	smart00312	NULL
653361	127946	Disease	p.Arg42Gln	VAR_012476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012476	- Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 1 (CGD1) [MIM:233700]	SWISS	41	cd06889	NULL
653361	127946	Disease	p.Arg42Gln	VAR_012476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012476	- Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 1 (CGD1) [MIM:233700]	SWISS	51	cd06890	NULL
653361	127946	Disease	p.Arg42Gln	VAR_012476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012476	- Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 1 (CGD1) [MIM:233700]	SWISS	71	cd06093	NULL
653361	127946	Disease	p.Arg42Gln	VAR_012476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012476	- Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 1 (CGD1) [MIM:233700]	SWISS	36	cd07289	NULL
653361	127946	Disease	p.Arg42Gln	VAR_012476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012476	- Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 1 (CGD1) [MIM:233700]	SWISS	38	cd06883	NULL
653361	127946	Disease	p.Arg42Gln	VAR_012476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012476	- Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 1 (CGD1) [MIM:233700]	SWISS	40	cd06882	NULL
653361	127946	Disease	p.Arg42Gln	VAR_012476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012476	- Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 1 (CGD1) [MIM:233700]	SWISS	58	pfam00787	NULL
4688	1346669	Disease	p.Arg77Gln	VAR_017388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017388	- Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]	SWISS	7	pfam00515	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Arg77Gln	VAR_017388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017388	- Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]	SWISS	7	pfam07719	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Arg77Gln	VAR_017388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017388	- Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]	SWISS	8	smart00028	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Arg77Gln	VAR_017388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017388	- Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]	SWISS	68	cd00189	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Gly78Glu	VAR_008904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008904	- Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]	SWISS	8	pfam00515	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Gly78Glu	VAR_008904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008904	- Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]	SWISS	8	pfam07719	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Gly78Glu	VAR_008904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008904	- Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]	SWISS	9	smart00028	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Gly78Glu	VAR_008904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008904	- Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]	SWISS	69	cd00189	189083742,NP_001121123|67189970,NP_000424
4688	1346669	Disease	p.Ala128Val	VAR_017389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017389	- Chronic granulomatous disease autosomal recessive cytochrome-b-positive type 2 (CGD2) [MIM:233710]	SWISS	156	cd00189	189083742,NP_001121123|67189970,NP_000424
4693	548342	Disease	p.Leu13Arg	VAR_005478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005478	- Norrie disease (ND) [MIM:310600]	SWISS	No Domain	N/A	4557789,NP_000257
4693	548342	Disease	p.Leu16Pro	VAR_016048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016048	- Norrie disease (ND) [MIM:310600]	SWISS	No Domain	N/A	4557789,NP_000257
4693	548342	Disease	p.Cys39Arg	VAR_005479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005479	- Norrie disease (ND) [MIM:310600]	SWISS	No Domain	N/A	4557789,NP_000257
4693	548342	Disease	p.Arg41Lys	VAR_005480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005480	- Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]	SWISS	No Domain	N/A	4557789,NP_000257
4693	548342	Disease	p.His42Arg	VAR_005481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005481	- Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]	SWISS	No Domain	N/A	4557789,NP_000257
4693	548342	Disease	p.Tyr44Cys	VAR_005482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005482	- Norrie disease (ND) [MIM:310600]	SWISS	2	smart00041	4557789,NP_000257
4693	548342	Disease	p.Lys58Asn	VAR_005483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005483	- Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]	SWISS	16	smart00041	4557789,NP_000257
4693	548342	Disease	p.Val60Glu	VAR_005484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005484	- Norrie disease (ND) [MIM:310600]	SWISS	19	smart00041	4557789,NP_000257
4693	548342	Disease	p.Leu61Phe	VAR_005485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005485	- Norrie disease (ND) [MIM:310600]	SWISS	20	smart00041	4557789,NP_000257
4693	548342	Disease	p.Leu61Pro	VAR_005486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005486	- Norrie disease (ND) [MIM:310600]	SWISS	20	smart00041	4557789,NP_000257
4693	548342	Disease	p.Ala63Asp	VAR_005487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005487	- Norrie disease (ND) [MIM:310600]	SWISS	22	smart00041	4557789,NP_000257
4693	548342	Disease	p.Cys65Trp	VAR_005490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005490	- Norrie disease (ND) [MIM:310600]	SWISS	24	smart00041	4557789,NP_000257
4693	548342	Disease	p.Cys65Tyr	VAR_005488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005488	- Norrie disease (ND) [MIM:310600]	SWISS	24	smart00041	4557789,NP_000257
4693	548342	Disease	p.Cys69Ser	VAR_005489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005489	- Norrie disease (ND) [MIM:310600]	SWISS	28	smart00041	4557789,NP_000257
4693	548342	Disease	p.Arg74Cys	VAR_005491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005491	- Norrie disease (ND) [MIM:310600]	SWISS	33	smart00041	4557789,NP_000257
4693	548342	Disease	p.Ser75Cys	VAR_005492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005492	- Norrie disease (ND) [MIM:310600]	SWISS	34	smart00041	4557789,NP_000257
4693	548342	Disease	p.Ser75Pro	VAR_016049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016049	- Norrie disease (ND) [MIM:310600]	SWISS	34	smart00041	4557789,NP_000257
4693	548342	Disease	p.Arg90Pro	VAR_005494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005494	- Norrie disease (ND) [MIM:310600]	SWISS	94	smart00041	4557789,NP_000257
4693	548342	Disease	p.Cys96Trp	VAR_009275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009275	- Norrie disease (ND) [MIM:310600]	SWISS	100	smart00041	4557789,NP_000257
4693	548342	Disease	p.Cys96Tyr	VAR_005496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005496	- Norrie disease (ND) [MIM:310600]	SWISS	100	smart00041	4557789,NP_000257
4693	548342	Disease	p.Ser101Phe	VAR_005497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005497	- Norrie disease (ND) [MIM:310600]	SWISS	105	smart00041	4557789,NP_000257
4693	548342	Disease	p.Lys104Gln	VAR_005498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005498	- Norrie disease (ND) [MIM:310600]	SWISS	108	smart00041	4557789,NP_000257
4693	548342	Disease	p.Ala105Thr	VAR_016050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016050	- Norrie disease (ND) [MIM:310600]	SWISS	109	smart00041	4557789,NP_000257
4693	548342	Disease	p.Cys110Gly	VAR_016051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016051	- Norrie disease (ND) [MIM:310600]	SWISS	114	smart00041	4557789,NP_000257
4693	548342	Disease	p.Tyr120Cys	VAR_005499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005499	- Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]	SWISS	130	smart00041	4557789,NP_000257
4693	548342	Disease	p.Arg121Gly	VAR_005500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005500	- Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]	SWISS	131	smart00041	4557789,NP_000257
4693	548342	Disease	p.Arg121Gln	VAR_005501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005501	- Norrie disease (ND) [MIM:310600]	SWISS	131	smart00041	4557789,NP_000257
4693	548342	Disease	p.Arg121Trp	VAR_005502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005502	- Norrie disease (ND) [MIM:310600]	SWISS	131	smart00041	4557789,NP_000257
4693	548342	Disease	p.Ile123Asn	VAR_005504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005504	- Norrie disease (ND) [MIM:310600]	SWISS	133	smart00041	4557789,NP_000257
4693	548342	Disease	p.Leu124Phe	VAR_005505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005505	rs28933684 Vitreoretinopathy exudative type 2 (EVR2) [MIM:305390]	SWISS	134	smart00041	4557789,NP_000257
4694	3334271	Disease	p.Gly8Arg	VAR_035099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035099	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	No Domain	N/A	4758770,NP_004532
4694	3334271	Disease	p.Arg37Ser	VAR_035100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035100	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	No Domain	N/A	4758770,NP_004532
25915	74733183	Disease	p.Gly77Arg	VAR_058491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058491	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	41	cd05560	41327781,NP_951032
25915	74733183	Disease	p.Gly77Arg	VAR_058491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058491	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	20	cd00248	41327781,NP_951032
25915	74733183	Disease	p.Gly77Arg	VAR_058491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058491	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	39	pfam04430	41327781,NP_951032
25915	74733183	Disease	p.Gly77Arg	VAR_058491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058491	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	37	COG3737	41327781,NP_951032
25915	74733183	Disease	p.Gly77Arg	VAR_058491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058491	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	39	cd05125	41327781,NP_951032
25915	74733183	Disease	p.Arg122Pro	VAR_058492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058492	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	111	cd05560	41327781,NP_951032
25915	74733183	Disease	p.Arg122Pro	VAR_058492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058492	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	77	cd00248	41327781,NP_951032
25915	74733183	Disease	p.Arg122Pro	VAR_058492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058492	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	148	pfam04430	41327781,NP_951032
25915	74733183	Disease	p.Arg122Pro	VAR_058492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058492	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	83	COG3737	41327781,NP_951032
25915	74733183	Disease	p.Arg122Pro	VAR_058492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058492	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	102	cd05125	41327781,NP_951032
29078	30912745	Disease	p.Leu65Pro	VAR_044329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044329	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	68	pfam06784	7661786,NP_054884
4719	92090799	Disease	p.Arg241Trp	VAR_019532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019532	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	239	COG3383	33519475,NP_004997
4719	92090799	Disease	p.Arg241Trp	VAR_019532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019532	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	269	COG1034	33519475,NP_004997
4719	92090799	Disease	p.Asp252Gly	VAR_019533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019533	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	290	COG3383	33519475,NP_004997
4719	92090799	Disease	p.Asp252Gly	VAR_019533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019533	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	4	cd02771	33519475,NP_004997
4719	92090799	Disease	p.Asp252Gly	VAR_019533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019533	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	4	cd02772	33519475,NP_004997
4719	92090799	Disease	p.Asp252Gly	VAR_019533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019533	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	4	cd02773	33519475,NP_004997
4719	92090799	Disease	p.Asp252Gly	VAR_019533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019533	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	4	cd02768	33519475,NP_004997
4719	92090799	Disease	p.Asp252Gly	VAR_019533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019533	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	4	cd00368	33519475,NP_004997
4719	92090799	Disease	p.Asp252Gly	VAR_019533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019533	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	4	cd02774	33519475,NP_004997
4719	92090799	Disease	p.Asp252Gly	VAR_019533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019533	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	280	COG1034	33519475,NP_004997
4720	20178314	Disease	p.Arg228Gln	VAR_019535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019535	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	176	COG0649	4758786,NP_004541
4720	20178314	Disease	p.Arg228Gln	VAR_019535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019535	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	37	pfam00346	4758786,NP_004541
4720	20178314	Disease	p.Arg228Gln	VAR_019535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019535	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	158	COG3261	4758786,NP_004541
4720	20178314	Disease	p.Pro229Gln	VAR_019536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019536	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	177	COG0649	4758786,NP_004541
4720	20178314	Disease	p.Pro229Gln	VAR_019536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019536	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	38	pfam00346	4758786,NP_004541
4720	20178314	Disease	p.Pro229Gln	VAR_019536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019536	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	159	COG3261	4758786,NP_004541
4720	20178314	Disease	p.Ser413Pro	VAR_019537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019537	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	409	COG0649	4758786,NP_004541
4720	20178314	Disease	p.Ser413Pro	VAR_019537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019537	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	225	pfam00346	4758786,NP_004541
4720	20178314	Disease	p.Ser413Pro	VAR_019537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019537	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	344	COG3261	4758786,NP_004541
374291	90110040	Disease	p.Val122Met	VAR_008848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008848	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	96	pfam01058	187281616,NP_077718
374291	90110040	Disease	p.Val122Met	VAR_008848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008848	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	59	COG3260	187281616,NP_077718
374291	90110040	Disease	p.Val122Met	VAR_008848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008848	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	88	COG0377	187281616,NP_077718
4728	2499325	Disease	p.Pro79Leu	VAR_019538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019538	rs28939679 Leigh syndrome (LS) [MIM:256000]	SWISS	8	COG1145	4505371,NP_002487
4728	2499325	Disease	p.Pro79Leu	VAR_019538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019538	rs28939679 Leigh syndrome (LS) [MIM:256000]	SWISS	35	COG1143	4505371,NP_002487
4728	2499325	Disease	p.Arg102His	VAR_019539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019539	- Leigh syndrome (LS) [MIM:256000]	SWISS	18	COG1144	4505371,NP_002487
4728	2499325	Disease	p.Arg102His	VAR_019539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019539	- Leigh syndrome (LS) [MIM:256000]	SWISS	41	COG1145	4505371,NP_002487
4728	2499325	Disease	p.Arg102His	VAR_019539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019539	- Leigh syndrome (LS) [MIM:256000]	SWISS	59	COG1143	4505371,NP_002487
4723	20455501	Disease	p.Glu214Lys	VAR_019534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019534	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	206	COG1894	20149568,NP_009034
4723	20455501	Disease	p.Glu214Lys	VAR_019534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019534	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	199	pfam01512	20149568,NP_009034
4723	20455501	Disease	p.Ala341Val	VAR_008846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008846	- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]	SWISS	336	COG1894	20149568,NP_009034
4723	20455501	Disease	p.Thr423Met	VAR_008847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008847	- Leigh syndrome (LS) [MIM:256000]	SWISS	420	COG1894	20149568,NP_009034
4747	62511894	Disease	p.Pro8Leu	VAR_016018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016018	- Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734]	SWISS	No Domain	N/A	105990539,NP_006149
4747	62511894	Disease	p.Pro8Gln	VAR_016019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016019	- Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734]	SWISS	No Domain	N/A	105990539,NP_006149
4747	62511894	Disease	p.Pro8Arg	VAR_016020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016020	rs60261494 Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734]	SWISS	No Domain	N/A	105990539,NP_006149
4747	62511894	Disease	p.Pro8Arg	VAR_016020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016020	rs60261494 Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684]	SWISS	No Domain	N/A	105990539,NP_006149
4747	62511894	Disease	p.Pro22Ser	VAR_016021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016021	rs28928910 Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684]	SWISS	26	pfam04732	105990539,NP_006149
4747	62511894	Disease	p.Glu90Lys	VAR_016022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016022	rs58332872 Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734]	SWISS	2	pfam00038	105990539,NP_006149
4747	62511894	Disease	p.Asn98Ser	VAR_016023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016023	rs58982919 Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734]	SWISS	10	pfam00038	105990539,NP_006149
4747	62511894	Disease	p.Gln332Pro	VAR_009703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009703	rs59443585 Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684]	SWISS	316	pfam00038	105990539,NP_006149
4747	62511894	Disease	p.Leu336Pro	VAR_021613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021613	- Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684]	SWISS	320	pfam00038	105990539,NP_006149
4747	62511894	Disease	p.Glu396Lys	VAR_021614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021614	- Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734]	SWISS	381	pfam00038	105990539,NP_006149
26012	71152011	Disease	p.Thr480Ala	VAR_023003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023003	- Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]	SWISS	No Domain	N/A	195972909,NP_001124441
4758	17368612	Disease	p.Val54Met	VAR_012207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012207	- Sialidosis [MIM:256550]	SWISS	No Domain	N/A	4557791,NP_000425
4758	17368612	Disease	p.Gly68Val	VAR_012208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012208	- Sialidosis [MIM:256550]	SWISS	7	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Pro80Leu	VAR_017460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017460	- Sialidosis [MIM:256550]	SWISS	34	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Leu91Arg	VAR_012209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012209	- Sialidosis [MIM:256550]	SWISS	47	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Ser182Gly	VAR_012210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012210	- Sialidosis [MIM:256550]	SWISS	317	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Val217Met	VAR_012211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012211	rs28940583 Sialidosis [MIM:256550]	SWISS	544	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Gly219Ala	VAR_012212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012212	- Sialidosis [MIM:256550]	SWISS	546	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Arg225Pro	VAR_018076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018076	rs28940584 Sialidosis [MIM:256550]	SWISS	598	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Gly227Arg	VAR_012213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012213	- Sialidosis [MIM:256550]	SWISS	600	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Leu231His	VAR_012214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012214	- Sialidosis [MIM:256550]	SWISS	604	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Trp240Arg	VAR_012215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012215	- Sialidosis [MIM:256550]	SWISS	618	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Gly243Arg	VAR_012216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012216	- Sialidosis [MIM:256550]	SWISS	622	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Phe260Tyr	VAR_012217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012217	- Sialidosis [MIM:256550]	SWISS	704	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Leu270Phe	VAR_012219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012219	- Sialidosis [MIM:256550]	SWISS	714	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Leu270Pro	VAR_012218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012218	- Sialidosis [MIM:256550]	SWISS	714	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Arg294Ser	VAR_012220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012220	- Sialidosis [MIM:256550]	SWISS	747	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Ala298Val	VAR_012221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012221	- Sialidosis [MIM:256550]	SWISS	751	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Pro316Ser	VAR_017461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017461	- Sialidosis [MIM:256550]	SWISS	796	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Gly328Ser	VAR_012222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012222	- Sialidosis [MIM:256550]	SWISS	897	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Pro335Gln	VAR_012223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012223	- Sialidosis [MIM:256550]	SWISS	904	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Arg341Gly	VAR_018077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018077	- Sialidosis [MIM:256550]	SWISS	918	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Leu363Pro	VAR_012224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012224	- Sialidosis [MIM:256550]	SWISS	951	cd00260	4557791,NP_000425
4758	17368612	Disease	p.Tyr370Cys	VAR_012225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012225	- Sialidosis [MIM:256550]	SWISS	993	cd00260	4557791,NP_000425
4760	311033428	Disease	p.Arg111Leu	VAR_012487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012487	- Maturity-onset diabetes of the young type 6 (MODY6) [MIM:606394]	SWISS	13	cd00083	NULL
4760	311033428	Disease	p.Arg111Leu	VAR_012487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012487	- Maturity-onset diabetes of the young type 6 (MODY6) [MIM:606394]	SWISS	10	pfam00010	NULL
4760	311033428	Disease	p.Arg111Leu	VAR_012487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012487	- Maturity-onset diabetes of the young type 6 (MODY6) [MIM:606394]	SWISS	5	smart00353	NULL
50674	229462908	Disease	p.Arg93Leu	VAR_029003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029003	- Congenital malabsorptive diarrhea 4 (DIAR4) [MIM:610370]	SWISS	10	pfam00010	68989258,NP_066279
50674	229462908	Disease	p.Arg93Leu	VAR_029003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029003	- Congenital malabsorptive diarrhea 4 (DIAR4) [MIM:610370]	SWISS	13	cd00083	68989258,NP_066279
50674	229462908	Disease	p.Arg93Leu	VAR_029003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029003	- Congenital malabsorptive diarrhea 4 (DIAR4) [MIM:610370]	SWISS	5	smart00353	68989258,NP_066279
50674	229462908	Disease	p.Arg107Ser	VAR_029004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029004	- Congenital malabsorptive diarrhea 4 (DIAR4) [MIM:610370]	SWISS	25	pfam00010	68989258,NP_066279
50674	229462908	Disease	p.Arg107Ser	VAR_029004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029004	- Congenital malabsorptive diarrhea 4 (DIAR4) [MIM:610370]	SWISS	27	cd00083	68989258,NP_066279
50674	229462908	Disease	p.Arg107Ser	VAR_029004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029004	- Congenital malabsorptive diarrhea 4 (DIAR4) [MIM:610370]	SWISS	23	smart00353	68989258,NP_066279
91624	121945484	Disease	p.Pro611Thr	VAR_063009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063009	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	39	smart00409	148839339,NP_653174
91624	121945484	Disease	p.Pro611Thr	VAR_063009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063009	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	39	smart00410	148839339,NP_653174
91624	121945484	Disease	p.Pro611Thr	VAR_063009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063009	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	21	pfam00047	148839339,NP_653174
91624	121945484	Disease	p.Pro611Thr	VAR_063009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063009	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	16	cd04969	148839339,NP_653174
91624	121945484	Disease	p.Pro611Thr	VAR_063009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063009	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	24	cd05729	148839339,NP_653174
91624	121945484	Disease	p.Pro611Thr	VAR_063009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063009	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	14	cd05748	148839339,NP_653174
91624	121945484	Disease	p.Pro611Thr	VAR_063009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063009	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	14	cd05723	148839339,NP_653174
91624	121945484	Disease	p.Pro611Thr	VAR_063009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063009	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	32	pfam07679	148839339,NP_653174
91624	121945484	Disease	p.Pro611Thr	VAR_063009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063009	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	24	cd05857	148839339,NP_653174
91624	121945484	Disease	p.Pro611Thr	VAR_063009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063009	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	27	cd00096	148839339,NP_653174
91624	121945484	Disease	p.Pro611Thr	VAR_063009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063009	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	24	cd05856	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	VAR_063011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063011	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	198	smart00409	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	VAR_063011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063011	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	198	smart00410	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	VAR_063011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063011	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	88	pfam00047	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	VAR_063011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063011	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	68	cd04969	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	VAR_063011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063011	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	66	cd05729	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	VAR_063011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063011	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	85	cd05748	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	VAR_063011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063011	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	55	cd05723	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	VAR_063011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063011	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	93	pfam07679	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	VAR_063011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063011	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	66	cd05857	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	VAR_063011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063011	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	123	cd00096	148839339,NP_653174
91624	121945484	Disease	p.Tyr652Cys	VAR_063011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063011	- Cardiomyopathy dilated type 1CC (CMD1CC) [MIM:613122]	SWISS	63	cd05856	148839339,NP_653174
4792	126682	Disease	p.Ser32Ile	VAR_034871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034871	rs28933100 Ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant (ADEDAID) [MIM:612132]	SWISS	14	COG0666	10092619,NP_065390
4803	90110037	Disease	p.Arg221Trp	VAR_030659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030659	rs11466112 Hereditary sensory and autonomic neuropathy type 5 (HSAN5) [MIM:608654]	SWISS	127	smart00140	70995319,NP_002497
4803	90110037	Disease	p.Arg221Trp	VAR_030659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030659	rs11466112 Hereditary sensory and autonomic neuropathy type 5 (HSAN5) [MIM:608654]	SWISS	108	pfam00243	70995319,NP_002497
79840	74734059	Disease	p.Arg57Gly	VAR_025704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025704	- Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291]	SWISS	72	pfam09302	13376142,NP_079058
79840	74734059	Disease	p.Cys123Arg	VAR_025705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025705	- Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291]	SWISS	166	pfam09302	13376142,NP_079058
378884	50400890	Disease	p.Ser22Arg	VAR_046387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046387	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	No Domain	N/A	40255283,NP_940988
378884	50400890	Disease	p.Cys26Ser	VAR_019482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019482	rs28940575 Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	2	cd00162	40255283,NP_940988
378884	50400890	Disease	p.Phe33Ser	VAR_019483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019483	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	9	cd00162	40255283,NP_940988
378884	50400890	Disease	p.Phe33Ser	VAR_019483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019483	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	8	smart00184	40255283,NP_940988
378884	50400890	Disease	p.Glu67Gln	VAR_046388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046388	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	96	cd00162	40255283,NP_940988
378884	50400890	Disease	p.Glu67Gln	VAR_046388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046388	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	103	smart00184	40255283,NP_940988
378884	50400890	Disease	p.Cys68Tyr	VAR_046389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046389	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	97	cd00162	40255283,NP_940988
378884	50400890	Disease	p.Cys68Tyr	VAR_046389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046389	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	106	smart00184	40255283,NP_940988
378884	50400890	Disease	p.Pro69Ala	VAR_019484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019484	rs28940576 Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	98	cd00162	40255283,NP_940988
378884	50400890	Disease	p.Pro69Ala	VAR_019484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019484	rs28940576 Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	107	smart00184	40255283,NP_940988
378884	50400890	Disease	p.Leu87Pro	VAR_019485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019485	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	No Domain	N/A	40255283,NP_940988
378884	50400890	Disease	p.Leu126Pro	VAR_046390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046390	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	No Domain	N/A	40255283,NP_940988
378884	50400890	Disease	p.Asp146Asn	VAR_019487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019487	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	No Domain	N/A	40255283,NP_940988
378884	50400890	Disease	p.Ile153Met	VAR_046391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046391	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	No Domain	N/A	40255283,NP_940988
378884	50400890	Disease	p.Cys160Arg	VAR_046392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046392	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	No Domain	N/A	40255283,NP_940988
378884	50400890	Disease	p.Ile198Asn	VAR_046393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046393	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	No Domain	N/A	40255283,NP_940988
378884	50400890	Disease	p.Trp219Arg	VAR_046394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046394	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	No Domain	N/A	40255283,NP_940988
378884	50400890	Disease	p.Asp233Ala	VAR_046395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046395	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	No Domain	N/A	40255283,NP_940988
378884	50400890	Disease	p.Asp245Asn	VAR_046396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046396	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	No Domain	N/A	40255283,NP_940988
378884	50400890	Disease	p.Arg253Lys	VAR_046397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046397	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	No Domain	N/A	40255283,NP_940988
378884	50400890	Disease	p.Pro264His	VAR_046398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046398	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	No Domain	N/A	40255283,NP_940988
378884	50400890	Disease	p.Leu279Pro	VAR_046399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046399	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	No Domain	N/A	40255283,NP_940988
378884	50400890	Disease	p.Gln302Pro	VAR_019488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019488	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	No Domain	N/A	40255283,NP_940988
378884	50400890	Disease	p.Asp308Ala	VAR_046401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046401	- Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]	SWISS	No Domain	N/A	40255283,NP_940988
123606	73921215	Disease	p.Thr45Arg	VAR_023440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023440	- Spastic paraplegia autosomal dominant type 6 (SPG6) [MIM:600363]	SWISS	22	pfam05653	41406091,NP_653200
123606	73921215	Disease	p.Gly106Arg	VAR_023441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023441	- Spastic paraplegia autosomal dominant type 6 (SPG6) [MIM:600363]	SWISS	91	pfam05653	41406091,NP_653200
348938	221222524	Disease	p.Gly142Val	VAR_031736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031736	- Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281]	SWISS	29	pfam05653	149944536,NP_001092757
348938	221222524	Disease	p.Ala176Asp	VAR_031737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031737	- Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281]	SWISS	63	pfam05653	149944536,NP_001092757
348938	221222524	Disease	p.Ser208Phe	VAR_031738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031738	- Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281]	SWISS	95	pfam05653	149944536,NP_001092757
348938	221222524	Disease	p.Gly230Arg	VAR_054120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054120	- Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281]	SWISS	117	pfam05653	149944536,NP_001092757
348938	221222524	Disease	p.His237Asn	VAR_031739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031739	- Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281]	SWISS	124	pfam05653	149944536,NP_001092757
348938	221222524	Disease	p.Gly297Arg	VAR_031740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031740	- Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281]	SWISS	184	pfam05653	149944536,NP_001092757
25836	50400865	Disease	p.Ala1246Gly	VAR_021598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021598	- Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]	SWISS	No Domain	N/A	47578105,NP_597677
25836	50400865	Disease	p.Cys1311Arg	VAR_019519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019519	- Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]	SWISS	No Domain	N/A	47578105,NP_597677
25836	50400865	Disease	p.Leu1312Pro	VAR_021599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021599	- Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]	SWISS	No Domain	N/A	47578105,NP_597677
25836	50400865	Disease	p.Leu1348Arg	VAR_019520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019520	- Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]	SWISS	No Domain	N/A	47578105,NP_597677
25836	50400865	Disease	p.Arg1789Leu	VAR_021600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021600	- Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]	SWISS	No Domain	N/A	47578105,NP_597677
25836	50400865	Disease	p.Asp1803Val	VAR_021601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021601	- Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]	SWISS	No Domain	N/A	47578105,NP_597677
25836	50400865	Disease	p.Arg1856Thr	VAR_021602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021602	- Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]	SWISS	No Domain	N/A	47578105,NP_597677
25836	50400865	Disease	p.Arg2298Cys	VAR_021603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021603	- Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]	SWISS	No Domain	N/A	47578105,NP_597677
25836	50400865	Disease	p.Arg2298His	VAR_021604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021604	- Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]	SWISS	No Domain	N/A	47578105,NP_597677
25836	50400865	Disease	p.Gly2312Arg	VAR_021605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021605	- Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]	SWISS	No Domain	N/A	47578105,NP_597677
25836	50400865	Disease	p.Gly2381Ala	VAR_021606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021606	- Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]	SWISS	No Domain	N/A	47578105,NP_597677
25836	50400865	Disease	p.Ala2390Thr	VAR_021607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021607	- Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]	SWISS	No Domain	N/A	47578105,NP_597677
25836	50400865	Disease	p.Tyr2430Cys	VAR_019521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019521	- Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]	SWISS	No Domain	N/A	47578105,NP_597677
25836	50400865	Disease	p.Tyr2440His	VAR_021608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021608	- Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]	SWISS	No Domain	N/A	47578105,NP_597677
7080	1174819	Disease	p.Val205Phe	VAR_034906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034906	- Choreoathetosis, hypothyroidism, and neonatal respiratory distress (CHNRD) [MIM:610978]	SWISS	84	smart00389	4507715,NP_003308
7080	1174819	Disease	p.Val205Phe	VAR_034906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034906	- Choreoathetosis, hypothyroidism, and neonatal respiratory distress (CHNRD) [MIM:610978]	SWISS	54	pfam00046	4507715,NP_003308
7080	1174819	Disease	p.Val205Phe	VAR_034906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034906	- Choreoathetosis, hypothyroidism, and neonatal respiratory distress (CHNRD) [MIM:610978]	SWISS	76	cd00086	4507715,NP_003308
7080	1174819	Disease	p.Trp208Leu	VAR_015188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015188	rs28936672 Benign hereditary chorea (BHC) [MIM:118700]	SWISS	87	smart00389	4507715,NP_003308
7080	1174819	Disease	p.Trp208Leu	VAR_015188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015188	rs28936672 Benign hereditary chorea (BHC) [MIM:118700]	SWISS	57	pfam00046	4507715,NP_003308
7080	1174819	Disease	p.Trp208Leu	VAR_015188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015188	rs28936672 Benign hereditary chorea (BHC) [MIM:118700]	SWISS	79	cd00086	4507715,NP_003308
7080	1174819	Disease	p.Arg213Ser	VAR_015189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015189	rs28936671 Benign hereditary chorea (BHC) [MIM:118700]	SWISS	92	smart00389	4507715,NP_003308
7080	1174819	Disease	p.Arg213Ser	VAR_015189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015189	rs28936671 Benign hereditary chorea (BHC) [MIM:118700]	SWISS	62	pfam00046	4507715,NP_003308
7080	1174819	Disease	p.Arg213Ser	VAR_015189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015189	rs28936671 Benign hereditary chorea (BHC) [MIM:118700]	SWISS	84	cd00086	4507715,NP_003308
1482	1708211	Disease	p.Leu7Pro	VAR_038212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038212	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Lys15Ile	VAR_038213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038213	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Asn19Ser	VAR_038214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038214	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Glu21Gln	VAR_038215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038215	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Glu21Gln	VAR_038215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038215	- Tetralogy of Fallot (TOF) [MIM:187500]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Gln22Pro	VAR_038216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038216	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Arg25Cys	VAR_010116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010116	rs28936670 Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Arg25Cys	VAR_010116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010116	rs28936670 Congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Arg25Cys	VAR_010116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010116	rs28936670 Tetralogy of Fallot (TOF) [MIM:187500]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Ser45Pro	VAR_038217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038217	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Phe51Leu	VAR_038218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038218	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Ala63Val	VAR_038219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038219	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Leu69Pro	VAR_038220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038220	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Pro77Leu	VAR_038221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038221	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Cys114Arg	VAR_038222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038222	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Cys114Ser	VAR_038223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038223	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Lys118Arg	VAR_038224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038224	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Ala119Ser	VAR_047869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047869	- Congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Lys124Arg	VAR_038225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038225	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Glu126Val	VAR_038226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038226	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Ala127Glu	VAR_038227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038227	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Pro133Ser	VAR_038228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038228	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Ala135Thr	VAR_038229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038229	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Arg142Cys	VAR_038230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038230	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	4	cd00086	4758090,NP_004378
1482	1708211	Disease	p.Arg142Cys	VAR_038230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038230	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	4	smart00389	4758090,NP_004378
1482	1708211	Disease	p.Arg142Cys	VAR_038230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038230	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	4	pfam00046	4758090,NP_004378
1482	1708211	Disease	p.Leu144Pro	VAR_038231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038231	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	6	cd00086	4758090,NP_004378
1482	1708211	Disease	p.Leu144Pro	VAR_038231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038231	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	6	smart00389	4758090,NP_004378
1482	1708211	Disease	p.Leu144Pro	VAR_038231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038231	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	6	pfam00046	4758090,NP_004378
1482	1708211	Disease	p.Arg161Pro	VAR_047870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047870	- Congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250]	SWISS	34	cd00086	4758090,NP_004378
1482	1708211	Disease	p.Arg161Pro	VAR_047870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047870	- Congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250]	SWISS	31	smart00389	4758090,NP_004378
1482	1708211	Disease	p.Arg161Pro	VAR_047870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047870	- Congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250]	SWISS	28	pfam00046	4758090,NP_004378
1482	1708211	Disease	p.Thr178Met	VAR_003752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003752	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	72	cd00086	4758090,NP_004378
1482	1708211	Disease	p.Thr178Met	VAR_003752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003752	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	59	smart00389	4758090,NP_004378
1482	1708211	Disease	p.Thr178Met	VAR_003752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003752	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	50	pfam00046	4758090,NP_004378
1482	1708211	Disease	p.Lys183Glu	VAR_038232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038232	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	77	cd00086	4758090,NP_004378
1482	1708211	Disease	p.Lys183Glu	VAR_038232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038232	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	85	smart00389	4758090,NP_004378
1482	1708211	Disease	p.Lys183Glu	VAR_038232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038232	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	55	pfam00046	4758090,NP_004378
1482	1708211	Disease	p.Gln187His	VAR_038233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038233	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	81	cd00086	4758090,NP_004378
1482	1708211	Disease	p.Gln187His	VAR_038233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038233	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	89	smart00389	4758090,NP_004378
1482	1708211	Disease	p.Gln187His	VAR_038233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038233	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	59	pfam00046	4758090,NP_004378
1482	1708211	Disease	p.Asn188Lys	VAR_010117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010117	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	82	cd00086	4758090,NP_004378
1482	1708211	Disease	p.Asn188Lys	VAR_010117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010117	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	90	smart00389	4758090,NP_004378
1482	1708211	Disease	p.Asn188Lys	VAR_010117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010117	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	60	pfam00046	4758090,NP_004378
1482	1708211	Disease	p.Arg189Gly	VAR_010118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010118	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	83	cd00086	4758090,NP_004378
1482	1708211	Disease	p.Arg189Gly	VAR_010118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010118	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	91	smart00389	4758090,NP_004378
1482	1708211	Disease	p.Arg189Gly	VAR_010118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010118	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	61	pfam00046	4758090,NP_004378
1482	1708211	Disease	p.Arg190Cys	VAR_038234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038234	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	84	cd00086	4758090,NP_004378
1482	1708211	Disease	p.Arg190Cys	VAR_038234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038234	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	92	smart00389	4758090,NP_004378
1482	1708211	Disease	p.Arg190Cys	VAR_038234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038234	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	62	pfam00046	4758090,NP_004378
1482	1708211	Disease	p.Tyr191Cys	VAR_010119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010119	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	85	cd00086	4758090,NP_004378
1482	1708211	Disease	p.Tyr191Cys	VAR_010119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010119	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	93	smart00389	4758090,NP_004378
1482	1708211	Disease	p.Tyr191Cys	VAR_010119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010119	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	63	pfam00046	4758090,NP_004378
1482	1708211	Disease	p.Lys192Arg	VAR_038235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038235	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	86	cd00086	4758090,NP_004378
1482	1708211	Disease	p.Lys192Arg	VAR_038235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038235	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	94	smart00389	4758090,NP_004378
1482	1708211	Disease	p.Lys192Arg	VAR_038235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038235	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	64	pfam00046	4758090,NP_004378
1482	1708211	Disease	p.Lys192Thr	VAR_038236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038236	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	86	cd00086	4758090,NP_004378
1482	1708211	Disease	p.Lys192Thr	VAR_038236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038236	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	94	smart00389	4758090,NP_004378
1482	1708211	Disease	p.Lys192Thr	VAR_038236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038236	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	64	pfam00046	4758090,NP_004378
1482	1708211	Disease	p.Lys194Arg	VAR_038237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038237	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	88	cd00086	4758090,NP_004378
1482	1708211	Disease	p.Lys194Arg	VAR_038237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038237	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	66	pfam00046	4758090,NP_004378
1482	1708211	Disease	p.Val205Glu	VAR_038238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038238	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Arg216Cys	VAR_038239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038239	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Arg216Cys	VAR_038239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038239	- Tetralogy of Fallot (TOF) [MIM:187500]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Ala219Val	VAR_038240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038240	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Ala219Val	VAR_038240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038240	- Tetralogy of Fallot (TOF) [MIM:187500]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Asp226Asn	VAR_038241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038241	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Tyr248His	VAR_038242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038242	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Pro275Thr	VAR_038243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038243	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Ser279Phe	VAR_038244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038244	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Ser279Pro	VAR_038245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038245	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Ala281Val	VAR_038246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038246	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Ala286Val	VAR_038247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038247	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Asn294His	VAR_038248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038248	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Asp299Gly	VAR_038249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038249	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Ser305Gly	VAR_038250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038250	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Gly320Ser	VAR_038251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038251	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Arg322Gln	VAR_038252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038252	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
1482	1708211	Disease	p.Ala323Thr	VAR_038253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038253	- Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]	SWISS	No Domain	N/A	4758090,NP_004378
137814	158513800	Disease	p.Phe151Leu	VAR_063278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063278	- Conotruncal heart malformations (CTHM) [MIM:217095]	SWISS	70	COG5576	NULL
137814	158513800	Disease	p.Phe151Leu	VAR_063278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063278	- Conotruncal heart malformations (CTHM) [MIM:217095]	SWISS	19	pfam00046	NULL
137814	158513800	Disease	p.Phe151Leu	VAR_063278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063278	- Conotruncal heart malformations (CTHM) [MIM:217095]	SWISS	19	cd00086	NULL
137814	158513800	Disease	p.Phe151Leu	VAR_063278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063278	- Conotruncal heart malformations (CTHM) [MIM:217095]	SWISS	24	smart00389	NULL
54413	31076855	Disease	p.Arg451Cys	VAR_015668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015668	- Autism X-linked type 1 (AUTSX1) [MIM:300425]	SWISS	398	COG2272	262359971,NP_851820
54413	31076855	Disease	p.Arg451Cys	VAR_015668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015668	- Autism X-linked type 1 (AUTSX1) [MIM:300425]	SWISS	678	pfam00135	262359971,NP_851820
54413	31076855	Disease	p.Arg451Cys	VAR_015668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015668	- Autism X-linked type 1 (AUTSX1) [MIM:300425]	SWISS	452	cd00312	262359971,NP_851820
54413	31076855	Disease	p.Arg451Cys	VAR_015668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015668	- X-linked Asperger syndrome 1 (ASPGX1) [MIM:300494]	SWISS	398	COG2272	262359971,NP_851820
54413	31076855	Disease	p.Arg451Cys	VAR_015668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015668	- X-linked Asperger syndrome 1 (ASPGX1) [MIM:300494]	SWISS	678	pfam00135	262359971,NP_851820
54413	31076855	Disease	p.Arg451Cys	VAR_015668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015668	- X-linked Asperger syndrome 1 (ASPGX1) [MIM:300494]	SWISS	452	cd00312	262359971,NP_851820
114548	262527566	Disease	p.Ile174Thr	VAR_043679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043679	- Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]	SWISS	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Val200Met	VAR_013227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013227	- Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100]	SWISS	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Val200Met	VAR_013227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013227	- Muckle-Wells syndrome (MWS) [MIM:191900]	SWISS	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Arg262Leu	VAR_043680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043680	- Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]	SWISS	47	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Arg262Pro	VAR_043681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043681	- Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]	SWISS	47	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Arg262Trp	VAR_014104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014104	- Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100]	SWISS	47	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Arg262Trp	VAR_014104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014104	- Muckle-Wells syndrome (MWS) [MIM:191900]	SWISS	47	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Leu266His	VAR_043682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043682	- Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]	SWISS	51	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Asp305Gly	VAR_043683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043683	- Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]	SWISS	127	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Asp305Asn	VAR_014105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014105	- Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]	SWISS	127	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Asp305Asn	VAR_014105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014105	- Muckle-Wells syndrome (MWS) [MIM:191900]	SWISS	127	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Leu307Pro	VAR_014124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014124	- Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100]	SWISS	129	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Leu307Pro	VAR_014124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014124	- Muckle-Wells syndrome (MWS) [MIM:191900]	SWISS	129	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Gln308Leu	VAR_043684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043684	- Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]	SWISS	130	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Phe311Ser	VAR_014106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014106	- Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]	SWISS	133	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Thr350Met	VAR_014366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014366	- Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]	SWISS	172	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Thr350Met	VAR_014366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014366	- Muckle-Wells syndrome (MWS) [MIM:191900]	SWISS	172	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Ala354Val	VAR_013228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013228	- Muckle-Wells syndrome (MWS) [MIM:191900]	SWISS	176	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Leu355Pro	VAR_043685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043685	rs28937896 Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100]	SWISS	177	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Glu356Asp	VAR_043686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043686	- Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]	SWISS	178	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.His360Arg	VAR_014367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014367	- Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]	SWISS	185	pfam05729	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Thr407Pro	VAR_043687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043687	- Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]	SWISS	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Thr438Ile	VAR_043688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043688	- Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]	SWISS	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Thr438Asn	VAR_014368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014368	- Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]	SWISS	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Ala441Thr	VAR_014369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014369	- Muckle-Wells syndrome (MWS) [MIM:191900]	SWISS	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Ala441Val	VAR_013229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013229	- Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100]	SWISS	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Arg490Lys	VAR_043689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043689	- Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100]	SWISS	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Phe525Cys	VAR_031853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031853	- Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100]	SWISS	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Phe525Leu	VAR_043690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043690	- Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]	SWISS	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Gly571Arg	VAR_014107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014107	- Muckle-Wells syndrome (MWS) [MIM:191900]	SWISS	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Tyr572Cys	VAR_043691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043691	- Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]	SWISS	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Phe575Ser	VAR_014108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014108	- Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]	SWISS	No Domain	N/A	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Glu629Gly	VAR_013230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013230	- Familial cold autoinflammatory syndrome type 1 (FCAS1) [MIM:120100]	SWISS	65	cd00116	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Leu634Phe	VAR_043692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043692	- Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]	SWISS	70	cd00116	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Met664Thr	VAR_014370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014370	- Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]	SWISS	106	cd00116	34878693,NP_004886|119395764,NP_001073289
114548	262527566	Disease	p.Tyr861Cys	VAR_023551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023551	- Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]	SWISS	248_G	cd00116	34878693,NP_004886|119395764,NP_001073289
199713	24212128	Disease	p.Leu398Arg	VAR_059035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059035	- Hydatidiform mole (HYDM) [MIM:231090]	SWISS	No Domain	N/A	75709196,NP_996611
199713	24212128	Disease	p.Pro651Ser	VAR_059036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059036	- Hydatidiform mole (HYDM) [MIM:231090]	SWISS	28	cd00116	75709196,NP_996611
199713	24212128	Disease	p.Arg693Pro	VAR_026711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026711	- Hydatidiform mole (HYDM) [MIM:231090]	SWISS	86	cd00116	75709196,NP_996611
199713	24212128	Disease	p.Arg693Gln	VAR_059037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059037	- Hydatidiform mole (HYDM) [MIM:231090]	SWISS	86	cd00116	75709196,NP_996611
199713	24212128	Disease	p.Arg693Trp	VAR_026712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026712	- Hydatidiform mole (HYDM) [MIM:231090]	SWISS	86	cd00116	75709196,NP_996611
199713	24212128	Disease	p.Pro716Ala	VAR_059038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059038	- Hydatidiform mole (HYDM) [MIM:231090]	SWISS	110	cd00116	75709196,NP_996611
199713	24212128	Disease	p.Arg721Trp	VAR_059039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059039	- Hydatidiform mole (HYDM) [MIM:231090]	SWISS	116	cd00116	75709196,NP_996611
199713	24212128	Disease	p.Cys761Tyr	VAR_059040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059040	- Hydatidiform mole (HYDM) [MIM:231090]	SWISS	169	cd00116	75709196,NP_996611
199713	24212128	Disease	p.Asn913Ser	VAR_026713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026713	- Hydatidiform mole (HYDM) [MIM:231090]	SWISS	363	cd00116	75709196,NP_996611
135935	229463046	Disease	p.Arg355His	VAR_036636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036636	- Premature ovarian failure type 5 (POF5) [MIM:611548]	SWISS	91	smart00389	NULL
135935	229463046	Disease	p.Arg355His	VAR_036636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036636	- Premature ovarian failure type 5 (POF5) [MIM:611548]	SWISS	83	cd00086	NULL
135935	229463046	Disease	p.Arg355His	VAR_036636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036636	- Premature ovarian failure type 5 (POF5) [MIM:611548]	SWISS	61	pfam00046	NULL
64127	20137973	Disease	p.Arg334Gln	VAR_012676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012676	- Blau syndrome (BS) [MIM:186580]	SWISS	47	pfam05729	11545912,NP_071445
64127	20137973	Disease	p.Arg334Trp	VAR_012677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012677	- Blau syndrome (BS) [MIM:186580]	SWISS	47	pfam05729	11545912,NP_071445
64127	20137973	Disease	p.Asp382Glu	VAR_023822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023822	- Sarcoidosis early-onset (EOS) [MIM:609464]	SWISS	127	pfam05729	11545912,NP_071445
64127	20137973	Disease	p.Glu383Lys	VAR_023823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023823	- Blau syndrome (BS) [MIM:186580]	SWISS	128	pfam05729	11545912,NP_071445
64127	20137973	Disease	p.Leu469Phe	VAR_012685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012685	- Blau syndrome (BS) [MIM:186580]	SWISS	No Domain	N/A	11545912,NP_071445
64127	20137973	Disease	p.His496Leu	VAR_023824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023824	- Sarcoidosis early-onset (EOS) [MIM:609464]	SWISS	No Domain	N/A	11545912,NP_071445
64127	20137973	Disease	p.Ala612Thr	VAR_012686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012686	- Sarcoidosis early-onset (EOS) [MIM:609464]	SWISS	No Domain	N/A	11545912,NP_071445
4838	166214958	Disease	p.Arg183Gln	VAR_015111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015111	- Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100]	SWISS	No Domain	N/A	222352098,NP_060525
4838	166214958	Disease	p.Glu203Lys	VAR_038194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038194	rs10999334 Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100]	SWISS	No Domain	N/A	222352098,NP_060525
4838	166214958	Disease	p.Gly260Arg	VAR_062281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062281	- Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100]	SWISS	18	pfam00019	222352098,NP_060525
4838	166214958	Disease	p.Gly260Arg	VAR_062281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062281	- Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100]	SWISS	15	smart00204	222352098,NP_060525
4838	166214958	Disease	p.Arg275Cys	VAR_062282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062282	- Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100]	SWISS	33	pfam00019	222352098,NP_060525
4838	166214958	Disease	p.Arg275Cys	VAR_062282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062282	- Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100]	SWISS	30	smart00204	222352098,NP_060525
4838	166214958	Disease	p.Val284Phe	VAR_062283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062283	- Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100]	SWISS	42	pfam00019	222352098,NP_060525
4838	166214958	Disease	p.Val284Phe	VAR_062283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062283	- Visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100]	SWISS	39	smart00204	222352098,NP_060525
9241	15214099	Disease	p.Pro35Ala	VAR_036997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036997	- Brachydactyly type B2 (BDB2) [MIM:611377]	SWISS	29	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Pro35Arg	VAR_011361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011361	- Symphalangism proximal syndrome (SYM1) [MIM:185800]	SWISS	29	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Pro35Arg	VAR_011361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011361	- Tarsal-carpal coalition syndrome (TCC) [MIM:186570]	SWISS	29	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Pro35Ser	VAR_018324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018324	rs28937580 Brachydactyly type B2 (BDB2) [MIM:611377]	SWISS	29	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Pro35Ser	VAR_018324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018324	rs28937580 Symphalangism proximal syndrome (SYM1) [MIM:185800]	SWISS	29	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Ala36Pro	VAR_036998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036998	- Brachydactyly type B2 (BDB2) [MIM:611377]	SWISS	30	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Glu48Lys	VAR_036999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036999	- Brachydactyly type B2 (BDB2) [MIM:611377]	SWISS	42	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Arg167Gly	VAR_037000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037000	- Brachydactyly type B2 (BDB2) [MIM:611377]	SWISS	156	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Cys184Tyr	VAR_018325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018325	- Symphalangism proximal syndrome (SYM1) [MIM:185800]	SWISS	173	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Pro187Ser	VAR_037001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037001	- Brachydactyly type B2 (BDB2) [MIM:611377]	SWISS	176	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Gly189Cys	VAR_011362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011362	- Symphalangism proximal syndrome (SYM1) [MIM:185800]	SWISS	178	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Arg204Leu	VAR_018326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018326	- Tarsal-carpal coalition syndrome (TCC) [MIM:186570]	SWISS	193	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Trp205Cys	VAR_037605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037605	- Symphalangism proximal syndrome (SYM1) [MIM:185800]	SWISS	194	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Trp217Gly	VAR_011363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011363	- Multiple synostoses syndrome type 1 (SYNS1) [MIM:186500]	SWISS	267	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Ile220Asn	VAR_011364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011364	- Symphalangism proximal syndrome (SYM1) [MIM:185800]	SWISS	270	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Tyr222Cys	VAR_011365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011365	- Symphalangism proximal syndrome (SYM1) [MIM:185800]	SWISS	272	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Tyr222Cys	VAR_011365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011365	- Tarsal-carpal coalition syndrome (TCC) [MIM:186570]	SWISS	272	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Tyr222Asp	VAR_011366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011366	- Symphalangism proximal syndrome (SYM1) [MIM:185800]	SWISS	272	pfam05806	4885523,NP_005441
9241	15214099	Disease	p.Pro223Leu	VAR_011367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011367	- Symphalangism proximal syndrome (SYM1) [MIM:185800]	SWISS	273	pfam05806	4885523,NP_005441
55505	54036209	Disease	p.Arg34Trp	VAR_043725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043725	- Dyskeratosis congenita autosomal recessive (ARDKC) [MIM:224230]	SWISS	41	COG2260	8923942,NP_061118
55505	54036209	Disease	p.Arg34Trp	VAR_043725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043725	- Dyskeratosis congenita autosomal recessive (ARDKC) [MIM:224230]	SWISS	42	pfam04135	8923942,NP_061118
4853	143811429	Disease	p.Cys444Tyr	VAR_029361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029361	- Alagille syndrome type 2 (ALGS2) [MIM:610205]	SWISS	38	pfam07645	24041035,NP_077719
4853	143811429	Disease	p.Cys444Tyr	VAR_029361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029361	- Alagille syndrome type 2 (ALGS2) [MIM:610205]	SWISS	60	cd00054	24041035,NP_077719
4853	143811429	Disease	p.Cys444Tyr	VAR_029361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029361	- Alagille syndrome type 2 (ALGS2) [MIM:610205]	SWISS	55	smart00179	24041035,NP_077719
4853	143811429	Disease	p.Cys444Tyr	VAR_029361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029361	- Alagille syndrome type 2 (ALGS2) [MIM:610205]	SWISS	37	pfam00008	24041035,NP_077719
4853	143811429	Disease	p.Cys444Tyr	VAR_029361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029361	- Alagille syndrome type 2 (ALGS2) [MIM:610205]	SWISS	57	smart00181	24041035,NP_077719
4853	143811429	Disease	p.Cys444Tyr	VAR_029361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029361	- Alagille syndrome type 2 (ALGS2) [MIM:610205]	SWISS	58	cd00053	24041035,NP_077719
4854	20139284	Disease	p.Cys43Gly	VAR_044230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044230	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	5	cd00054	NULL
4854	20139284	Disease	p.Cys43Gly	VAR_044230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044230	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	cd00053	NULL
4854	20139284	Disease	p.Cys43Gly	VAR_044230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044230	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	smart00181	NULL
4854	20139284	Disease	p.Cys49Phe	VAR_044231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044231	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	25	cd00054	NULL
4854	20139284	Disease	p.Cys49Phe	VAR_044231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044231	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	19	cd00053	NULL
4854	20139284	Disease	p.Cys49Phe	VAR_044231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044231	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	17	smart00181	NULL
4854	20139284	Disease	p.Cys49Phe	VAR_044231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044231	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	10	pfam00008	NULL
4854	20139284	Disease	p.Cys49Tyr	VAR_012871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012871	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	25	cd00054	NULL
4854	20139284	Disease	p.Cys49Tyr	VAR_012871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012871	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	19	cd00053	NULL
4854	20139284	Disease	p.Cys49Tyr	VAR_012871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012871	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	17	smart00181	NULL
4854	20139284	Disease	p.Cys49Tyr	VAR_012871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012871	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	10	pfam00008	NULL
4854	20139284	Disease	p.Arg54Cys	VAR_044232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044232	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	35	cd00054	NULL
4854	20139284	Disease	p.Arg54Cys	VAR_044232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044232	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	27	cd00053	NULL
4854	20139284	Disease	p.Arg54Cys	VAR_044232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044232	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	26	smart00181	NULL
4854	20139284	Disease	p.Arg54Cys	VAR_044232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044232	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	17	pfam00008	NULL
4854	20139284	Disease	p.Ser60Cys	VAR_044233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044233	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	41	cd00054	NULL
4854	20139284	Disease	p.Ser60Cys	VAR_044233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044233	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	46	cd00053	NULL
4854	20139284	Disease	p.Ser60Cys	VAR_044233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044233	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	45	smart00181	NULL
4854	20139284	Disease	p.Ser60Cys	VAR_044233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044233	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	23	pfam00008	NULL
4854	20139284	Disease	p.Cys65Ser	VAR_044234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044234	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	53	cd00054	NULL
4854	20139284	Disease	p.Cys65Ser	VAR_044234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044234	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	51	cd00053	NULL
4854	20139284	Disease	p.Cys65Ser	VAR_044234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044234	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	50	smart00181	NULL
4854	20139284	Disease	p.Cys65Ser	VAR_044234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044234	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	35	pfam00008	NULL
4854	20139284	Disease	p.Cys67Tyr	VAR_044235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044235	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	60	cd00054	NULL
4854	20139284	Disease	p.Cys67Tyr	VAR_044235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044235	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	58	cd00053	NULL
4854	20139284	Disease	p.Cys67Tyr	VAR_044235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044235	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	57	smart00181	NULL
4854	20139284	Disease	p.Cys67Tyr	VAR_044235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044235	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	37	pfam00008	NULL
4854	20139284	Disease	p.Trp71Cys	VAR_012872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012872	rs28937321 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	69	cd00054	NULL
4854	20139284	Disease	p.Trp71Cys	VAR_012872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012872	rs28937321 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	65	cd00053	NULL
4854	20139284	Disease	p.Trp71Cys	VAR_012872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012872	rs28937321 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	66	smart00181	NULL
4854	20139284	Disease	p.Trp71Cys	VAR_012872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012872	rs28937321 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	46	pfam00008	NULL
4854	20139284	Disease	p.Cys76Arg	VAR_044236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044236	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	89	cd00054	NULL
4854	20139284	Disease	p.Cys76Arg	VAR_044236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044236	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	85	cd00053	NULL
4854	20139284	Disease	p.Cys76Arg	VAR_044236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044236	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	82	smart00181	NULL
4854	20139284	Disease	p.Cys76Trp	VAR_044237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044237	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	89	cd00054	NULL
4854	20139284	Disease	p.Cys76Trp	VAR_044237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044237	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	85	cd00053	NULL
4854	20139284	Disease	p.Cys76Trp	VAR_044237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044237	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	82	smart00181	NULL
4854	20139284	Disease	p.Cys87Arg	VAR_044240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044240	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	No Domain	N/A	NULL
4854	20139284	Disease	p.Cys87Tyr	VAR_044241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044241	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	No Domain	N/A	NULL
4854	20139284	Disease	p.Arg90Cys	VAR_012873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012873	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	No Domain	N/A	NULL
4854	20139284	Disease	p.Cys93Phe	VAR_044242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044242	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	No Domain	N/A	NULL
4854	20139284	Disease	p.Cys93Tyr	VAR_044243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044243	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	No Domain	N/A	NULL
4854	20139284	Disease	p.Cys106Trp	VAR_044244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044244	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	No Domain	N/A	NULL
4854	20139284	Disease	p.Cys108Trp	VAR_044245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044245	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	No Domain	N/A	NULL
4854	20139284	Disease	p.Cys108Tyr	VAR_044246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044246	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	No Domain	N/A	NULL
4854	20139284	Disease	p.Arg110Cys	VAR_012874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012874	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	No Domain	N/A	NULL
4854	20139284	Disease	p.Cys117Phe	VAR_044247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044247	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	No Domain	N/A	NULL
4854	20139284	Disease	p.Ser118Cys	VAR_044248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044248	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	No Domain	N/A	NULL
4854	20139284	Disease	p.Cys123Phe	VAR_044249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044249	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	5	cd00054	NULL
4854	20139284	Disease	p.Cys123Phe	VAR_044249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044249	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	cd00053	NULL
4854	20139284	Disease	p.Cys123Phe	VAR_044249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044249	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	smart00181	NULL
4854	20139284	Disease	p.Cys123Phe	VAR_044249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044249	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	5	smart00179	NULL
4854	20139284	Disease	p.Cys123Tyr	VAR_044250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044250	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	5	cd00054	NULL
4854	20139284	Disease	p.Cys123Tyr	VAR_044250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044250	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	cd00053	NULL
4854	20139284	Disease	p.Cys123Tyr	VAR_044250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044250	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	smart00181	NULL
4854	20139284	Disease	p.Cys123Tyr	VAR_044250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044250	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	5	smart00179	NULL
4854	20139284	Disease	p.Cys128Tyr	VAR_044251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044251	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	25	cd00054	NULL
4854	20139284	Disease	p.Cys128Tyr	VAR_044251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044251	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	10	pfam00008	NULL
4854	20139284	Disease	p.Cys128Tyr	VAR_044251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044251	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	19	cd00053	NULL
4854	20139284	Disease	p.Cys128Tyr	VAR_044251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044251	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	17	smart00181	NULL
4854	20139284	Disease	p.Cys128Tyr	VAR_044251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044251	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	25	smart00179	NULL
4854	20139284	Disease	p.Arg133Cys	VAR_012876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012876	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	35	cd00054	NULL
4854	20139284	Disease	p.Arg133Cys	VAR_012876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012876	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	17	pfam00008	NULL
4854	20139284	Disease	p.Arg133Cys	VAR_012876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012876	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	27	cd00053	NULL
4854	20139284	Disease	p.Arg133Cys	VAR_012876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012876	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	26	smart00181	NULL
4854	20139284	Disease	p.Arg133Cys	VAR_012876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012876	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	33	smart00179	NULL
4854	20139284	Disease	p.Cys134Trp	VAR_044252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044252	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	36	cd00054	NULL
4854	20139284	Disease	p.Cys134Trp	VAR_044252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044252	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	18	pfam00008	NULL
4854	20139284	Disease	p.Cys134Trp	VAR_044252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044252	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	28	cd00053	NULL
4854	20139284	Disease	p.Cys134Trp	VAR_044252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044252	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	27	smart00181	NULL
4854	20139284	Disease	p.Cys134Trp	VAR_044252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044252	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	34	smart00179	NULL
4854	20139284	Disease	p.Arg141Cys	VAR_012877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012877	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	50	cd00054	NULL
4854	20139284	Disease	p.Arg141Cys	VAR_012877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012877	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	32	pfam00008	NULL
4854	20139284	Disease	p.Arg141Cys	VAR_012877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012877	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	48	cd00053	NULL
4854	20139284	Disease	p.Arg141Cys	VAR_012877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012877	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	47	smart00181	NULL
4854	20139284	Disease	p.Arg141Cys	VAR_012877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012877	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	45	smart00179	NULL
4854	20139284	Disease	p.Phe142Cys	VAR_044253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044253	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	51	cd00054	NULL
4854	20139284	Disease	p.Phe142Cys	VAR_044253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044253	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	33	pfam00008	NULL
4854	20139284	Disease	p.Phe142Cys	VAR_044253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044253	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	49	cd00053	NULL
4854	20139284	Disease	p.Phe142Cys	VAR_044253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044253	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	48	smart00181	NULL
4854	20139284	Disease	p.Phe142Cys	VAR_044253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044253	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	46	smart00179	NULL
4854	20139284	Disease	p.Cys144Phe	VAR_044254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044254	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	53	cd00054	NULL
4854	20139284	Disease	p.Cys144Phe	VAR_044254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044254	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	35	pfam00008	NULL
4854	20139284	Disease	p.Cys144Phe	VAR_044254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044254	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	51	cd00053	NULL
4854	20139284	Disease	p.Cys144Phe	VAR_044254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044254	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	50	smart00181	NULL
4854	20139284	Disease	p.Cys144Phe	VAR_044254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044254	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	48	smart00179	NULL
4854	20139284	Disease	p.Cys144Ser	VAR_044255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044255	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	53	cd00054	NULL
4854	20139284	Disease	p.Cys144Ser	VAR_044255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044255	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	35	pfam00008	NULL
4854	20139284	Disease	p.Cys144Ser	VAR_044255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044255	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	51	cd00053	NULL
4854	20139284	Disease	p.Cys144Ser	VAR_044255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044255	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	50	smart00181	NULL
4854	20139284	Disease	p.Cys144Ser	VAR_044255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044255	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	48	smart00179	NULL
4854	20139284	Disease	p.Cys144Tyr	VAR_044256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044256	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	53	cd00054	NULL
4854	20139284	Disease	p.Cys144Tyr	VAR_044256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044256	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	35	pfam00008	NULL
4854	20139284	Disease	p.Cys144Tyr	VAR_044256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044256	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	51	cd00053	NULL
4854	20139284	Disease	p.Cys144Tyr	VAR_044256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044256	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	50	smart00181	NULL
4854	20139284	Disease	p.Cys144Tyr	VAR_044256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044256	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	48	smart00179	NULL
4854	20139284	Disease	p.Ser145Cys	VAR_044257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044257	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	54	cd00054	NULL
4854	20139284	Disease	p.Ser145Cys	VAR_044257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044257	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	36	pfam00008	NULL
4854	20139284	Disease	p.Ser145Cys	VAR_044257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044257	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	52	cd00053	NULL
4854	20139284	Disease	p.Ser145Cys	VAR_044257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044257	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	56	smart00181	NULL
4854	20139284	Disease	p.Ser145Cys	VAR_044257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044257	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	49	smart00179	NULL
4854	20139284	Disease	p.Cys146Arg	VAR_012878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012878	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	60	cd00054	NULL
4854	20139284	Disease	p.Cys146Arg	VAR_012878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012878	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	37	pfam00008	NULL
4854	20139284	Disease	p.Cys146Arg	VAR_012878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012878	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	58	cd00053	NULL
4854	20139284	Disease	p.Cys146Arg	VAR_012878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012878	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	57	smart00181	NULL
4854	20139284	Disease	p.Cys146Arg	VAR_012878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012878	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	55	smart00179	NULL
4854	20139284	Disease	p.Gly149Cys	VAR_044258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044258	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	68	cd00054	NULL
4854	20139284	Disease	p.Gly149Cys	VAR_044258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044258	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	40	pfam00008	NULL
4854	20139284	Disease	p.Gly149Cys	VAR_044258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044258	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	64	cd00053	NULL
4854	20139284	Disease	p.Gly149Cys	VAR_044258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044258	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	64	smart00181	NULL
4854	20139284	Disease	p.Gly149Cys	VAR_044258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044258	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	60	smart00179	NULL
4854	20139284	Disease	p.Tyr150Cys	VAR_044259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044259	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	69	cd00054	NULL
4854	20139284	Disease	p.Tyr150Cys	VAR_044259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044259	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	46	pfam00008	NULL
4854	20139284	Disease	p.Tyr150Cys	VAR_044259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044259	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	65	cd00053	NULL
4854	20139284	Disease	p.Tyr150Cys	VAR_044259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044259	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	66	smart00181	NULL
4854	20139284	Disease	p.Tyr150Cys	VAR_044259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044259	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	62	smart00179	NULL
4854	20139284	Disease	p.Arg153Cys	VAR_012879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012879	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	87	cd00054	NULL
4854	20139284	Disease	p.Arg153Cys	VAR_012879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012879	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	49	pfam00008	NULL
4854	20139284	Disease	p.Arg153Cys	VAR_012879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012879	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	68	cd00053	NULL
4854	20139284	Disease	p.Arg153Cys	VAR_012879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012879	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	80	smart00181	NULL
4854	20139284	Disease	p.Arg153Cys	VAR_012879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012879	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	81	smart00179	NULL
4854	20139284	Disease	p.Cys155Ser	VAR_044261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044261	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	89	cd00054	NULL
4854	20139284	Disease	p.Cys155Ser	VAR_044261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044261	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	85	cd00053	NULL
4854	20139284	Disease	p.Cys155Ser	VAR_044261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044261	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	82	smart00181	NULL
4854	20139284	Disease	p.Cys155Ser	VAR_044261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044261	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	83	smart00179	NULL
4854	20139284	Disease	p.Cys162Ser	VAR_044262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044262	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	cd00053	NULL
4854	20139284	Disease	p.Cys162Ser	VAR_044262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044262	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	smart00181	NULL
4854	20139284	Disease	p.Cys162Ser	VAR_044262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044262	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	5	pfam07645	NULL
4854	20139284	Disease	p.Cys162Ser	VAR_044262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044262	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	5	smart00179	NULL
4854	20139284	Disease	p.Cys162Ser	VAR_044262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044262	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	5	cd00054	NULL
4854	20139284	Disease	p.Arg169Cys	VAR_012880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012880	rs28933696 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	11	pfam00008	NULL
4854	20139284	Disease	p.Arg169Cys	VAR_012880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012880	rs28933696 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	20	cd00053	NULL
4854	20139284	Disease	p.Arg169Cys	VAR_012880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012880	rs28933696 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	18	smart00181	NULL
4854	20139284	Disease	p.Arg169Cys	VAR_012880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012880	rs28933696 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	18	pfam07645	NULL
4854	20139284	Disease	p.Arg169Cys	VAR_012880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012880	rs28933696 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	26	smart00179	NULL
4854	20139284	Disease	p.Arg169Cys	VAR_012880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012880	rs28933696 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	26	cd00054	NULL
4854	20139284	Disease	p.Gly171Cys	VAR_012882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012882	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	13	pfam00008	NULL
4854	20139284	Disease	p.Gly171Cys	VAR_012882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012882	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	25	cd00053	NULL
4854	20139284	Disease	p.Gly171Cys	VAR_012882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012882	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	20	smart00181	NULL
4854	20139284	Disease	p.Gly171Cys	VAR_012882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012882	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	20	pfam07645	NULL
4854	20139284	Disease	p.Gly171Cys	VAR_012882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012882	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	28	smart00179	NULL
4854	20139284	Disease	p.Gly171Cys	VAR_012882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012882	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	33	cd00054	NULL
4854	20139284	Disease	p.Cys174Phe	VAR_044263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044263	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	18	pfam00008	NULL
4854	20139284	Disease	p.Cys174Phe	VAR_044263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044263	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	28	cd00053	NULL
4854	20139284	Disease	p.Cys174Phe	VAR_044263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044263	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	27	smart00181	NULL
4854	20139284	Disease	p.Cys174Phe	VAR_044263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044263	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	23	pfam07645	NULL
4854	20139284	Disease	p.Cys174Phe	VAR_044263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044263	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	34	smart00179	NULL
4854	20139284	Disease	p.Cys174Phe	VAR_044263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044263	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	36	cd00054	NULL
4854	20139284	Disease	p.Cys174Arg	VAR_044264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044264	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	18	pfam00008	NULL
4854	20139284	Disease	p.Cys174Arg	VAR_044264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044264	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	28	cd00053	NULL
4854	20139284	Disease	p.Cys174Arg	VAR_044264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044264	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	27	smart00181	NULL
4854	20139284	Disease	p.Cys174Arg	VAR_044264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044264	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	23	pfam07645	NULL
4854	20139284	Disease	p.Cys174Arg	VAR_044264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044264	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	34	smart00179	NULL
4854	20139284	Disease	p.Cys174Arg	VAR_044264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044264	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	36	cd00054	NULL
4854	20139284	Disease	p.Cys174Tyr	VAR_044265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044265	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	18	pfam00008	NULL
4854	20139284	Disease	p.Cys174Tyr	VAR_044265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044265	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	28	cd00053	NULL
4854	20139284	Disease	p.Cys174Tyr	VAR_044265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044265	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	27	smart00181	NULL
4854	20139284	Disease	p.Cys174Tyr	VAR_044265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044265	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	23	pfam07645	NULL
4854	20139284	Disease	p.Cys174Tyr	VAR_044265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044265	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	34	smart00179	NULL
4854	20139284	Disease	p.Cys174Tyr	VAR_044265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044265	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	36	cd00054	NULL
4854	20139284	Disease	p.Ser180Cys	VAR_044266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044266	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	32	pfam00008	NULL
4854	20139284	Disease	p.Ser180Cys	VAR_044266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044266	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	48	cd00053	NULL
4854	20139284	Disease	p.Ser180Cys	VAR_044266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044266	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	47	smart00181	NULL
4854	20139284	Disease	p.Ser180Cys	VAR_044266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044266	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	29	pfam07645	NULL
4854	20139284	Disease	p.Ser180Cys	VAR_044266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044266	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	45	smart00179	NULL
4854	20139284	Disease	p.Ser180Cys	VAR_044266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044266	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	50	cd00054	NULL
4854	20139284	Disease	p.Arg182Cys	VAR_012883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012883	rs28933697 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	34	pfam00008	NULL
4854	20139284	Disease	p.Arg182Cys	VAR_012883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012883	rs28933697 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	50	cd00053	NULL
4854	20139284	Disease	p.Arg182Cys	VAR_012883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012883	rs28933697 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	49	smart00181	NULL
4854	20139284	Disease	p.Arg182Cys	VAR_012883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012883	rs28933697 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	31	pfam07645	NULL
4854	20139284	Disease	p.Arg182Cys	VAR_012883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012883	rs28933697 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	47	smart00179	NULL
4854	20139284	Disease	p.Arg182Cys	VAR_012883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012883	rs28933697 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	52	cd00054	NULL
4854	20139284	Disease	p.Cys183Phe	VAR_044267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044267	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	35	pfam00008	NULL
4854	20139284	Disease	p.Cys183Phe	VAR_044267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044267	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	51	cd00053	NULL
4854	20139284	Disease	p.Cys183Phe	VAR_044267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044267	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	50	smart00181	NULL
4854	20139284	Disease	p.Cys183Phe	VAR_044267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044267	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	32	pfam07645	NULL
4854	20139284	Disease	p.Cys183Phe	VAR_044267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044267	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	48	smart00179	NULL
4854	20139284	Disease	p.Cys183Phe	VAR_044267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044267	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	53	cd00054	NULL
4854	20139284	Disease	p.Cys183Arg	VAR_044268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044268	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	35	pfam00008	NULL
4854	20139284	Disease	p.Cys183Arg	VAR_044268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044268	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	51	cd00053	NULL
4854	20139284	Disease	p.Cys183Arg	VAR_044268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044268	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	50	smart00181	NULL
4854	20139284	Disease	p.Cys183Arg	VAR_044268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044268	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	32	pfam07645	NULL
4854	20139284	Disease	p.Cys183Arg	VAR_044268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044268	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	48	smart00179	NULL
4854	20139284	Disease	p.Cys183Arg	VAR_044268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044268	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	53	cd00054	NULL
4854	20139284	Disease	p.Cys183Ser	VAR_044269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044269	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	35	pfam00008	NULL
4854	20139284	Disease	p.Cys183Ser	VAR_044269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044269	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	51	cd00053	NULL
4854	20139284	Disease	p.Cys183Ser	VAR_044269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044269	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	50	smart00181	NULL
4854	20139284	Disease	p.Cys183Ser	VAR_044269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044269	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	32	pfam07645	NULL
4854	20139284	Disease	p.Cys183Ser	VAR_044269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044269	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	48	smart00179	NULL
4854	20139284	Disease	p.Cys183Ser	VAR_044269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044269	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	53	cd00054	NULL
4854	20139284	Disease	p.Cys185Gly	VAR_044270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044270	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	37	pfam00008	NULL
4854	20139284	Disease	p.Cys185Gly	VAR_044270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044270	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	58	cd00053	NULL
4854	20139284	Disease	p.Cys185Gly	VAR_044270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044270	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	57	smart00181	NULL
4854	20139284	Disease	p.Cys185Gly	VAR_044270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044270	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	38	pfam07645	NULL
4854	20139284	Disease	p.Cys185Gly	VAR_044270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044270	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	55	smart00179	NULL
4854	20139284	Disease	p.Cys185Gly	VAR_044270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044270	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	60	cd00054	NULL
4854	20139284	Disease	p.Cys185Arg	VAR_012884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012884	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	37	pfam00008	NULL
4854	20139284	Disease	p.Cys185Arg	VAR_012884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012884	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	58	cd00053	NULL
4854	20139284	Disease	p.Cys185Arg	VAR_012884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012884	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	57	smart00181	NULL
4854	20139284	Disease	p.Cys185Arg	VAR_012884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012884	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	38	pfam07645	NULL
4854	20139284	Disease	p.Cys185Arg	VAR_012884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012884	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	55	smart00179	NULL
4854	20139284	Disease	p.Cys185Arg	VAR_012884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012884	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	60	cd00054	NULL
4854	20139284	Disease	p.Tyr189Cys	VAR_044271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044271	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	46	pfam00008	NULL
4854	20139284	Disease	p.Tyr189Cys	VAR_044271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044271	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	65	cd00053	NULL
4854	20139284	Disease	p.Tyr189Cys	VAR_044271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044271	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	66	smart00181	NULL
4854	20139284	Disease	p.Tyr189Cys	VAR_044271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044271	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	42	pfam07645	NULL
4854	20139284	Disease	p.Tyr189Cys	VAR_044271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044271	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	62	smart00179	NULL
4854	20139284	Disease	p.Tyr189Cys	VAR_044271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044271	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	69	cd00054	NULL
4854	20139284	Disease	p.Cys194Phe	VAR_044272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044272	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	85	cd00053	NULL
4854	20139284	Disease	p.Cys194Phe	VAR_044272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044272	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	82	smart00181	NULL
4854	20139284	Disease	p.Cys194Phe	VAR_044272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044272	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	83	smart00179	NULL
4854	20139284	Disease	p.Cys194Phe	VAR_044272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044272	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	89	cd00054	NULL
4854	20139284	Disease	p.Cys194Arg	VAR_044273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044273	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	85	cd00053	NULL
4854	20139284	Disease	p.Cys194Arg	VAR_044273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044273	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	82	smart00181	NULL
4854	20139284	Disease	p.Cys194Arg	VAR_044273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044273	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	83	smart00179	NULL
4854	20139284	Disease	p.Cys194Arg	VAR_044273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044273	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	89	cd00054	NULL
4854	20139284	Disease	p.Cys194Ser	VAR_044274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044274	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	85	cd00053	NULL
4854	20139284	Disease	p.Cys194Ser	VAR_044274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044274	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	82	smart00181	NULL
4854	20139284	Disease	p.Cys194Ser	VAR_044274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044274	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	83	smart00179	NULL
4854	20139284	Disease	p.Cys194Ser	VAR_044274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044274	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	89	cd00054	NULL
4854	20139284	Disease	p.Cys194Tyr	VAR_044275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044275	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	85	cd00053	NULL
4854	20139284	Disease	p.Cys194Tyr	VAR_044275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044275	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	82	smart00181	NULL
4854	20139284	Disease	p.Cys194Tyr	VAR_044275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044275	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	83	smart00179	NULL
4854	20139284	Disease	p.Cys194Tyr	VAR_044275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044275	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	89	cd00054	NULL
4854	20139284	Disease	p.Cys201Tyr	VAR_044276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044276	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	smart00181	NULL
4854	20139284	Disease	p.Cys201Tyr	VAR_044276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044276	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	cd00053	NULL
4854	20139284	Disease	p.Cys201Tyr	VAR_044276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044276	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	5	cd00054	NULL
4854	20139284	Disease	p.Cys206Tyr	VAR_044277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044277	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	17	smart00181	NULL
4854	20139284	Disease	p.Cys206Tyr	VAR_044277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044277	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	19	cd00053	NULL
4854	20139284	Disease	p.Cys206Tyr	VAR_044277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044277	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	25	smart00179	NULL
4854	20139284	Disease	p.Cys206Tyr	VAR_044277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044277	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	10	pfam00008	NULL
4854	20139284	Disease	p.Cys206Tyr	VAR_044277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044277	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	25	cd00054	NULL
4854	20139284	Disease	p.Arg207Cys	VAR_044278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044278	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	18	smart00181	NULL
4854	20139284	Disease	p.Arg207Cys	VAR_044278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044278	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	20	cd00053	NULL
4854	20139284	Disease	p.Arg207Cys	VAR_044278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044278	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	26	smart00179	NULL
4854	20139284	Disease	p.Arg207Cys	VAR_044278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044278	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	11	pfam00008	NULL
4854	20139284	Disease	p.Arg207Cys	VAR_044278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044278	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	26	cd00054	NULL
4854	20139284	Disease	p.Cys212Ser	VAR_012885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012885	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	27	smart00181	NULL
4854	20139284	Disease	p.Cys212Ser	VAR_012885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012885	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	28	cd00053	NULL
4854	20139284	Disease	p.Cys212Ser	VAR_012885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012885	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	34	smart00179	NULL
4854	20139284	Disease	p.Cys212Ser	VAR_012885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012885	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	18	pfam00008	NULL
4854	20139284	Disease	p.Cys212Ser	VAR_012885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012885	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	36	cd00054	NULL
4854	20139284	Disease	p.Arg213Lys	VAR_044279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044279	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	28	smart00181	NULL
4854	20139284	Disease	p.Arg213Lys	VAR_044279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044279	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	29	cd00053	NULL
4854	20139284	Disease	p.Arg213Lys	VAR_044279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044279	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	35	smart00179	NULL
4854	20139284	Disease	p.Arg213Lys	VAR_044279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044279	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	19	pfam00008	NULL
4854	20139284	Disease	p.Arg213Lys	VAR_044279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044279	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	37	cd00054	NULL
4854	20139284	Disease	p.Cys222Gly	VAR_012886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012886	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	50	smart00181	NULL
4854	20139284	Disease	p.Cys222Gly	VAR_012886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012886	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	51	cd00053	NULL
4854	20139284	Disease	p.Cys222Gly	VAR_012886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012886	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	48	smart00179	NULL
4854	20139284	Disease	p.Cys222Gly	VAR_012886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012886	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	35	pfam00008	NULL
4854	20139284	Disease	p.Cys222Gly	VAR_012886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012886	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	53	cd00054	NULL
4854	20139284	Disease	p.Cys222Tyr	VAR_044280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044280	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	50	smart00181	NULL
4854	20139284	Disease	p.Cys222Tyr	VAR_044280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044280	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	51	cd00053	NULL
4854	20139284	Disease	p.Cys222Tyr	VAR_044280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044280	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	48	smart00179	NULL
4854	20139284	Disease	p.Cys222Tyr	VAR_044280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044280	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	35	pfam00008	NULL
4854	20139284	Disease	p.Cys222Tyr	VAR_044280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044280	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	53	cd00054	NULL
4854	20139284	Disease	p.Cys224Tyr	VAR_012887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012887	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	57	smart00181	NULL
4854	20139284	Disease	p.Cys224Tyr	VAR_012887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012887	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	58	cd00053	NULL
4854	20139284	Disease	p.Cys224Tyr	VAR_012887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012887	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	55	smart00179	NULL
4854	20139284	Disease	p.Cys224Tyr	VAR_012887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012887	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	37	pfam00008	NULL
4854	20139284	Disease	p.Cys224Tyr	VAR_012887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012887	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	60	cd00054	NULL
4854	20139284	Disease	p.Cys233Ser	VAR_044281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044281	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	82	smart00181	NULL
4854	20139284	Disease	p.Cys233Ser	VAR_044281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044281	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	85	cd00053	NULL
4854	20139284	Disease	p.Cys233Ser	VAR_044281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044281	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	83	smart00179	NULL
4854	20139284	Disease	p.Cys233Ser	VAR_044281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044281	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	89	cd00054	NULL
4854	20139284	Disease	p.Cys233Tyr	VAR_044282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044282	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	82	smart00181	NULL
4854	20139284	Disease	p.Cys233Tyr	VAR_044282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044282	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	85	cd00053	NULL
4854	20139284	Disease	p.Cys233Tyr	VAR_044282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044282	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	83	smart00179	NULL
4854	20139284	Disease	p.Cys233Tyr	VAR_044282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044282	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	89	cd00054	NULL
4854	20139284	Disease	p.Cys240Ser	VAR_044284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044284	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	5	cd00054	NULL
4854	20139284	Disease	p.Cys240Ser	VAR_044284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044284	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	5	smart00179	NULL
4854	20139284	Disease	p.Cys240Ser	VAR_044284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044284	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	smart00181	NULL
4854	20139284	Disease	p.Cys240Ser	VAR_044284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044284	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	cd00053	NULL
4854	20139284	Disease	p.Cys245Arg	VAR_044285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044285	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	10	pfam00008	NULL
4854	20139284	Disease	p.Cys245Arg	VAR_044285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044285	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	25	cd00054	NULL
4854	20139284	Disease	p.Cys245Arg	VAR_044285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044285	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	25	smart00179	NULL
4854	20139284	Disease	p.Cys245Arg	VAR_044285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044285	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	17	smart00181	NULL
4854	20139284	Disease	p.Cys245Arg	VAR_044285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044285	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	19	cd00053	NULL
4854	20139284	Disease	p.Cys251Arg	VAR_044286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044286	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	18	pfam00008	NULL
4854	20139284	Disease	p.Cys251Arg	VAR_044286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044286	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	36	cd00054	NULL
4854	20139284	Disease	p.Cys251Arg	VAR_044286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044286	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	34	smart00179	NULL
4854	20139284	Disease	p.Cys251Arg	VAR_044286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044286	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	27	smart00181	NULL
4854	20139284	Disease	p.Cys251Arg	VAR_044286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044286	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	28	cd00053	NULL
4854	20139284	Disease	p.Tyr258Cys	VAR_012888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012888	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	33	pfam00008	NULL
4854	20139284	Disease	p.Tyr258Cys	VAR_012888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012888	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	51	cd00054	NULL
4854	20139284	Disease	p.Tyr258Cys	VAR_012888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012888	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	46	smart00179	NULL
4854	20139284	Disease	p.Tyr258Cys	VAR_012888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012888	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	48	smart00181	NULL
4854	20139284	Disease	p.Tyr258Cys	VAR_012888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012888	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	49	cd00053	NULL
4854	20139284	Disease	p.Cys260Tyr	VAR_044287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044287	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	35	pfam00008	NULL
4854	20139284	Disease	p.Cys260Tyr	VAR_044287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044287	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	53	cd00054	NULL
4854	20139284	Disease	p.Cys260Tyr	VAR_044287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044287	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	48	smart00179	NULL
4854	20139284	Disease	p.Cys260Tyr	VAR_044287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044287	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	50	smart00181	NULL
4854	20139284	Disease	p.Cys260Tyr	VAR_044287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044287	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	51	cd00053	NULL
4854	20139284	Disease	p.Ala319Cys	VAR_044288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044288	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	6	smart00179	NULL
4854	20139284	Disease	p.Ala319Cys	VAR_044288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044288	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	6	cd00054	NULL
4854	20139284	Disease	p.Ala319Cys	VAR_044288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044288	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	pfam00008	NULL
4854	20139284	Disease	p.Ala319Cys	VAR_044288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044288	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	3	smart00181	NULL
4854	20139284	Disease	p.Ala319Cys	VAR_044288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044288	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	3	cd00053	NULL
4854	20139284	Disease	p.Arg332Cys	VAR_044289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044289	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	37	smart00179	NULL
4854	20139284	Disease	p.Arg332Cys	VAR_044289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044289	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	39	cd00054	NULL
4854	20139284	Disease	p.Arg332Cys	VAR_044289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044289	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	21	pfam00008	NULL
4854	20139284	Disease	p.Arg332Cys	VAR_044289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044289	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	30	smart00181	NULL
4854	20139284	Disease	p.Arg332Cys	VAR_044289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044289	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	31	cd00053	NULL
4854	20139284	Disease	p.Ser335Cys	VAR_044290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044290	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	45	smart00179	NULL
4854	20139284	Disease	p.Ser335Cys	VAR_044290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044290	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	50	cd00054	NULL
4854	20139284	Disease	p.Ser335Cys	VAR_044290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044290	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	32	pfam00008	NULL
4854	20139284	Disease	p.Ser335Cys	VAR_044290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044290	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	47	smart00181	NULL
4854	20139284	Disease	p.Ser335Cys	VAR_044290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044290	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	48	cd00053	NULL
4854	20139284	Disease	p.Tyr337Cys	VAR_044291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044291	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	47	smart00179	NULL
4854	20139284	Disease	p.Tyr337Cys	VAR_044291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044291	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	52	cd00054	NULL
4854	20139284	Disease	p.Tyr337Cys	VAR_044291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044291	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	34	pfam00008	NULL
4854	20139284	Disease	p.Tyr337Cys	VAR_044291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044291	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	49	smart00181	NULL
4854	20139284	Disease	p.Tyr337Cys	VAR_044291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044291	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	50	cd00053	NULL
4854	20139284	Disease	p.Cys379Ser	VAR_044292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044292	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	57	smart00181	NULL
4854	20139284	Disease	p.Cys379Ser	VAR_044292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044292	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	58	cd00053	NULL
4854	20139284	Disease	p.Cys379Ser	VAR_044292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044292	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	37	pfam00008	NULL
4854	20139284	Disease	p.Cys395Arg	VAR_044293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044293	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	5	pfam07645	NULL
4854	20139284	Disease	p.Cys395Arg	VAR_044293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044293	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	5	smart00179	NULL
4854	20139284	Disease	p.Cys395Arg	VAR_044293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044293	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	5	cd00054	NULL
4854	20139284	Disease	p.Cys395Arg	VAR_044293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044293	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	cd00053	NULL
4854	20139284	Disease	p.Cys395Arg	VAR_044293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044293	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	smart00181	NULL
4854	20139284	Disease	p.Gly420Cys	VAR_044294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044294	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	39	pfam07645	NULL
4854	20139284	Disease	p.Gly420Cys	VAR_044294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044294	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	56	smart00179	NULL
4854	20139284	Disease	p.Gly420Cys	VAR_044294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044294	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	61	cd00054	NULL
4854	20139284	Disease	p.Gly420Cys	VAR_044294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044294	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	38	pfam00008	NULL
4854	20139284	Disease	p.Gly420Cys	VAR_044294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044294	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	59	cd00053	NULL
4854	20139284	Disease	p.Gly420Cys	VAR_044294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044294	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	58	smart00181	NULL
4854	20139284	Disease	p.Arg421Cys	VAR_044295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044295	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	40	pfam07645	NULL
4854	20139284	Disease	p.Arg421Cys	VAR_044295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044295	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	57	smart00179	NULL
4854	20139284	Disease	p.Arg421Cys	VAR_044295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044295	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	62	cd00054	NULL
4854	20139284	Disease	p.Arg421Cys	VAR_044295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044295	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	39	pfam00008	NULL
4854	20139284	Disease	p.Arg421Cys	VAR_044295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044295	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	63	cd00053	NULL
4854	20139284	Disease	p.Arg421Cys	VAR_044295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044295	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	63	smart00181	NULL
4854	20139284	Disease	p.Cys428Ser	VAR_044296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044296	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	83	smart00179	NULL
4854	20139284	Disease	p.Cys428Ser	VAR_044296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044296	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	89	cd00054	NULL
4854	20139284	Disease	p.Cys428Ser	VAR_044296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044296	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	85	cd00053	NULL
4854	20139284	Disease	p.Cys428Ser	VAR_044296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044296	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	82	smart00181	NULL
4854	20139284	Disease	p.Cys428Tyr	VAR_044297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044297	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	83	smart00179	NULL
4854	20139284	Disease	p.Cys428Tyr	VAR_044297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044297	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	89	cd00054	NULL
4854	20139284	Disease	p.Cys428Tyr	VAR_044297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044297	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	85	cd00053	NULL
4854	20139284	Disease	p.Cys428Tyr	VAR_044297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044297	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	82	smart00181	NULL
4854	20139284	Disease	p.Cys440Gly	VAR_044298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044298	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	19	cd00053	NULL
4854	20139284	Disease	p.Cys440Gly	VAR_044298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044298	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	17	smart00181	NULL
4854	20139284	Disease	p.Cys440Gly	VAR_044298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044298	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	14	pfam07645	NULL
4854	20139284	Disease	p.Cys440Gly	VAR_044298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044298	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	25	cd00054	NULL
4854	20139284	Disease	p.Cys440Gly	VAR_044298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044298	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	25	smart00179	NULL
4854	20139284	Disease	p.Cys440Gly	VAR_044298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044298	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	10	pfam00008	NULL
4854	20139284	Disease	p.Cys440Arg	VAR_044299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044299	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	19	cd00053	NULL
4854	20139284	Disease	p.Cys440Arg	VAR_044299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044299	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	17	smart00181	NULL
4854	20139284	Disease	p.Cys440Arg	VAR_044299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044299	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	14	pfam07645	NULL
4854	20139284	Disease	p.Cys440Arg	VAR_044299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044299	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	25	cd00054	NULL
4854	20139284	Disease	p.Cys440Arg	VAR_044299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044299	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	25	smart00179	NULL
4854	20139284	Disease	p.Cys440Arg	VAR_044299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044299	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	10	pfam00008	NULL
4854	20139284	Disease	p.Cys446Ser	VAR_044300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044300	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	28	cd00053	NULL
4854	20139284	Disease	p.Cys446Ser	VAR_044300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044300	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	27	smart00181	NULL
4854	20139284	Disease	p.Cys446Ser	VAR_044300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044300	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	23	pfam07645	NULL
4854	20139284	Disease	p.Cys446Ser	VAR_044300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044300	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	36	cd00054	NULL
4854	20139284	Disease	p.Cys446Ser	VAR_044300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044300	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	34	smart00179	NULL
4854	20139284	Disease	p.Cys446Ser	VAR_044300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044300	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	18	pfam00008	NULL
4854	20139284	Disease	p.Arg449Cys	VAR_044301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044301	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	31	cd00053	NULL
4854	20139284	Disease	p.Arg449Cys	VAR_044301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044301	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	30	smart00181	NULL
4854	20139284	Disease	p.Arg449Cys	VAR_044301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044301	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	26	pfam07645	NULL
4854	20139284	Disease	p.Arg449Cys	VAR_044301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044301	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	39	cd00054	NULL
4854	20139284	Disease	p.Arg449Cys	VAR_044301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044301	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	37	smart00179	NULL
4854	20139284	Disease	p.Arg449Cys	VAR_044301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044301	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	21	pfam00008	NULL
4854	20139284	Disease	p.Cys455Arg	VAR_044302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044302	rs28933698 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	51	cd00053	NULL
4854	20139284	Disease	p.Cys455Arg	VAR_044302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044302	rs28933698 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	50	smart00181	NULL
4854	20139284	Disease	p.Cys455Arg	VAR_044302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044302	rs28933698 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	32	pfam07645	NULL
4854	20139284	Disease	p.Cys455Arg	VAR_044302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044302	rs28933698 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	53	cd00054	NULL
4854	20139284	Disease	p.Cys455Arg	VAR_044302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044302	rs28933698 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	48	smart00179	NULL
4854	20139284	Disease	p.Cys455Arg	VAR_044302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044302	rs28933698 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	35	pfam00008	NULL
4854	20139284	Disease	p.Cys484Phe	VAR_044303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044303	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	34	smart00179	NULL
4854	20139284	Disease	p.Cys484Phe	VAR_044303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044303	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	36	cd00054	NULL
4854	20139284	Disease	p.Cys484Phe	VAR_044303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044303	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	18	pfam00008	NULL
4854	20139284	Disease	p.Cys484Phe	VAR_044303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044303	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	28	cd00053	NULL
4854	20139284	Disease	p.Cys484Phe	VAR_044303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044303	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	27	smart00181	NULL
4854	20139284	Disease	p.Cys484Tyr	VAR_044304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044304	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	34	smart00179	NULL
4854	20139284	Disease	p.Cys484Tyr	VAR_044304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044304	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	36	cd00054	NULL
4854	20139284	Disease	p.Cys484Tyr	VAR_044304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044304	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	18	pfam00008	NULL
4854	20139284	Disease	p.Cys484Tyr	VAR_044304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044304	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	28	cd00053	NULL
4854	20139284	Disease	p.Cys484Tyr	VAR_044304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044304	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	27	smart00181	NULL
4854	20139284	Disease	p.Cys495Tyr	VAR_044305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044305	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	55	smart00179	NULL
4854	20139284	Disease	p.Cys495Tyr	VAR_044305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044305	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	60	cd00054	NULL
4854	20139284	Disease	p.Cys495Tyr	VAR_044305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044305	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	37	pfam00008	NULL
4854	20139284	Disease	p.Cys495Tyr	VAR_044305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044305	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	58	cd00053	NULL
4854	20139284	Disease	p.Cys495Tyr	VAR_044305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044305	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	57	smart00181	NULL
4854	20139284	Disease	p.Cys511Arg	VAR_044306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044306	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	smart00181	NULL
4854	20139284	Disease	p.Cys511Arg	VAR_044306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044306	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	cd00053	NULL
4854	20139284	Disease	p.Cys511Arg	VAR_044306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044306	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	5	pfam07645	NULL
4854	20139284	Disease	p.Cys511Arg	VAR_044306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044306	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	5	cd00054	NULL
4854	20139284	Disease	p.Cys511Arg	VAR_044306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044306	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	5	smart00179	NULL
4854	20139284	Disease	p.Cys542Tyr	VAR_012890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012890	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	82	smart00181	NULL
4854	20139284	Disease	p.Cys542Tyr	VAR_012890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012890	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	85	cd00053	NULL
4854	20139284	Disease	p.Cys542Tyr	VAR_012890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012890	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	89	cd00054	NULL
4854	20139284	Disease	p.Cys542Tyr	VAR_012890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012890	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	83	smart00179	NULL
4854	20139284	Disease	p.Arg544Cys	VAR_044307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044307	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	No Domain	N/A	NULL
4854	20139284	Disease	p.Cys549Tyr	VAR_044308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044308	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	smart00181	NULL
4854	20139284	Disease	p.Cys549Tyr	VAR_044308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044308	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	cd00053	NULL
4854	20139284	Disease	p.Cys549Tyr	VAR_044308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044308	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	5	cd00054	NULL
4854	20139284	Disease	p.Cys549Tyr	VAR_044308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044308	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	5	smart00179	NULL
4854	20139284	Disease	p.Arg558Cys	VAR_012891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012891	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	17	pfam00008	NULL
4854	20139284	Disease	p.Arg558Cys	VAR_012891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012891	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	26	smart00181	NULL
4854	20139284	Disease	p.Arg558Cys	VAR_012891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012891	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	27	cd00053	NULL
4854	20139284	Disease	p.Arg558Cys	VAR_012891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012891	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	35	cd00054	NULL
4854	20139284	Disease	p.Arg558Cys	VAR_012891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012891	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	33	smart00179	NULL
4854	20139284	Disease	p.Arg578Cys	VAR_012892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012892	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	81	smart00181	NULL
4854	20139284	Disease	p.Arg578Cys	VAR_012892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012892	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	84	cd00053	NULL
4854	20139284	Disease	p.Arg578Cys	VAR_012892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012892	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	88	cd00054	NULL
4854	20139284	Disease	p.Arg578Cys	VAR_012892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012892	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	82	smart00179	NULL
4854	20139284	Disease	p.Arg607Cys	VAR_044309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044309	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	36	pfam00008	NULL
4854	20139284	Disease	p.Arg607Cys	VAR_044309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044309	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	54	cd00054	NULL
4854	20139284	Disease	p.Arg607Cys	VAR_044309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044309	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	49	smart00179	NULL
4854	20139284	Disease	p.Arg607Cys	VAR_044309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044309	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	56	smart00181	NULL
4854	20139284	Disease	p.Arg607Cys	VAR_044309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044309	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	52	cd00053	NULL
4854	20139284	Disease	p.Arg728Cys	VAR_012893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012893	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	88	cd00054	NULL
4854	20139284	Disease	p.Arg728Cys	VAR_012893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012893	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	82	smart00179	NULL
4854	20139284	Disease	p.Arg728Cys	VAR_012893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012893	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	81	smart00181	NULL
4854	20139284	Disease	p.Arg728Cys	VAR_012893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012893	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	84	cd00053	NULL
4854	20139284	Disease	p.Cys775Ser	VAR_044310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044310	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	cd00053	NULL
4854	20139284	Disease	p.Cys775Ser	VAR_044310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044310	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	2	smart00181	NULL
4854	20139284	Disease	p.Gly953Cys	VAR_044311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044311	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	68	cd00054	NULL
4854	20139284	Disease	p.Gly953Cys	VAR_044311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044311	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	60	smart00179	NULL
4854	20139284	Disease	p.Gly953Cys	VAR_044311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044311	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	40	pfam00008	NULL
4854	20139284	Disease	p.Gly953Cys	VAR_044311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044311	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	64	smart00181	NULL
4854	20139284	Disease	p.Gly953Cys	VAR_044311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044311	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	64	cd00053	NULL
4854	20139284	Disease	p.Phe984Cys	VAR_044312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044312	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	49	cd00053	NULL
4854	20139284	Disease	p.Phe984Cys	VAR_044312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044312	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	48	smart00181	NULL
4854	20139284	Disease	p.Phe984Cys	VAR_044312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044312	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	33	pfam00008	NULL
4854	20139284	Disease	p.Phe984Cys	VAR_044312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044312	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	46	smart00179	NULL
4854	20139284	Disease	p.Phe984Cys	VAR_044312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044312	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	51	cd00054	NULL
4854	20139284	Disease	p.Arg985Cys	VAR_012894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012894	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	50	cd00053	NULL
4854	20139284	Disease	p.Arg985Cys	VAR_012894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012894	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	49	smart00181	NULL
4854	20139284	Disease	p.Arg985Cys	VAR_012894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012894	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	34	pfam00008	NULL
4854	20139284	Disease	p.Arg985Cys	VAR_012894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012894	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	47	smart00179	NULL
4854	20139284	Disease	p.Arg985Cys	VAR_012894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012894	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	52	cd00054	NULL
4854	20139284	Disease	p.Arg1006Cys	VAR_012895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012895	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	3	pfam00008	NULL
4854	20139284	Disease	p.Arg1006Cys	VAR_012895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012895	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	7	smart00179	NULL
4854	20139284	Disease	p.Arg1006Cys	VAR_012895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012895	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	4	smart00181	NULL
4854	20139284	Disease	p.Arg1006Cys	VAR_012895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012895	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	16	cd00053	NULL
4854	20139284	Disease	p.Arg1006Cys	VAR_012895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012895	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	7	cd00054	NULL
4854	20139284	Disease	p.Cys1015Arg	VAR_044313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044313	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	18	pfam00008	NULL
4854	20139284	Disease	p.Cys1015Arg	VAR_044313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044313	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	34	smart00179	NULL
4854	20139284	Disease	p.Cys1015Arg	VAR_044313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044313	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	27	smart00181	NULL
4854	20139284	Disease	p.Cys1015Arg	VAR_044313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044313	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	28	cd00053	NULL
4854	20139284	Disease	p.Cys1015Arg	VAR_044313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044313	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	36	cd00054	NULL
4854	20139284	Disease	p.Tyr1021Cys	VAR_044315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044315	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	34	pfam00008	NULL
4854	20139284	Disease	p.Tyr1021Cys	VAR_044315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044315	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	47	smart00179	NULL
4854	20139284	Disease	p.Tyr1021Cys	VAR_044315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044315	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	49	smart00181	NULL
4854	20139284	Disease	p.Tyr1021Cys	VAR_044315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044315	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	50	cd00053	NULL
4854	20139284	Disease	p.Tyr1021Cys	VAR_044315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044315	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	52	cd00054	NULL
4854	20139284	Disease	p.Arg1031Cys	VAR_012896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012896	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	49	pfam00008	NULL
4854	20139284	Disease	p.Arg1031Cys	VAR_012896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012896	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	81	smart00179	NULL
4854	20139284	Disease	p.Arg1031Cys	VAR_012896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012896	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	80	smart00181	NULL
4854	20139284	Disease	p.Arg1031Cys	VAR_012896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012896	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	68	cd00053	NULL
4854	20139284	Disease	p.Arg1031Cys	VAR_012896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012896	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	87	cd00054	NULL
4854	20139284	Disease	p.Asp1063Cys	VAR_044316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044316	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	29	smart00181	NULL
4854	20139284	Disease	p.Asp1063Cys	VAR_044316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044316	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	30	cd00053	NULL
4854	20139284	Disease	p.Asp1063Cys	VAR_044316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044316	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	36	smart00179	NULL
4854	20139284	Disease	p.Arg1231Cys	VAR_012899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012899	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	50	cd00053	NULL
4854	20139284	Disease	p.Arg1231Cys	VAR_012899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012899	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	52	cd00054	NULL
4854	20139284	Disease	p.Arg1231Cys	VAR_012899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012899	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	47	smart00179	NULL
4854	20139284	Disease	p.Cys1261Arg	VAR_012900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012900	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	18	pfam00008	NULL
4854	20139284	Disease	p.Cys1261Arg	VAR_012900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012900	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	27	smart00181	NULL
4854	20139284	Disease	p.Cys1261Arg	VAR_012900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012900	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	28	cd00053	NULL
4854	20139284	Disease	p.Cys1261Tyr	VAR_044317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044317	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	18	pfam00008	NULL
4854	20139284	Disease	p.Cys1261Tyr	VAR_044317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044317	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	27	smart00181	NULL
4854	20139284	Disease	p.Cys1261Tyr	VAR_044317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044317	- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]	SWISS	28	cd00053	NULL
4864	83305902	Disease	p.Cys63Arg	VAR_043172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043172	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	No Domain	N/A	255652944,NP_000262
4864	83305902	Disease	p.Cys74Tyr	VAR_043173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043173	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	No Domain	N/A	255652944,NP_000262
4864	83305902	Disease	p.Gln92Arg	VAR_043174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043174	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	No Domain	N/A	255652944,NP_000262
4864	83305902	Disease	p.Cys113Arg	VAR_043175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043175	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	No Domain	N/A	255652944,NP_000262
4864	83305902	Disease	p.Thr137Met	VAR_043176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043176	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	No Domain	N/A	255652944,NP_000262
4864	83305902	Disease	p.Pro166Ser	VAR_043178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043178	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	No Domain	N/A	255652944,NP_000262
4864	83305902	Disease	p.Cys177Gly	VAR_008815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008815	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	No Domain	N/A	255652944,NP_000262
4864	83305902	Disease	p.Cys177Tyr	VAR_015561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015561	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	No Domain	N/A	255652944,NP_000262
4864	83305902	Disease	p.Asn222Ser	VAR_043179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043179	rs55680026 Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	No Domain	N/A	255652944,NP_000262
4864	83305902	Disease	p.Val231Gly	VAR_043180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043180	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	No Domain	N/A	255652944,NP_000262
4864	83305902	Disease	p.Pro237Ser	VAR_008817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008817	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	No Domain	N/A	255652944,NP_000262
4864	83305902	Disease	p.Asp242His	VAR_043181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043181	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	No Domain	N/A	255652944,NP_000262
4864	83305902	Disease	p.Asp242Asn	VAR_043182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043182	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	No Domain	N/A	255652944,NP_000262
4864	83305902	Disease	p.Cys247Tyr	VAR_043183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043183	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	No Domain	N/A	255652944,NP_000262
4864	83305902	Disease	p.Gly248Val	VAR_043184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043184	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	No Domain	N/A	255652944,NP_000262
4864	83305902	Disease	p.Met272Arg	VAR_043185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043185	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	No Domain	N/A	255652944,NP_000262
4864	83305902	Disease	p.Arg372Trp	VAR_043187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043187	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	35	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Val378Ala	VAR_015562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015562	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	41	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Leu380Phe	VAR_043188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043188	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	43	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ala388Pro	VAR_043190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043190	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	51	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Arg389Cys	VAR_043191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043191	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	52	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Pro401Thr	VAR_043192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043192	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	64	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Arg404Pro	VAR_043193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043193	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	66	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Arg404Gln	VAR_043194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043194	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	66	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Arg404Trp	VAR_043195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043195	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	66	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Pro433Leu	VAR_043196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043196	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	2	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Pro433Leu	VAR_043196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043196	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	82	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Pro434Leu	VAR_043197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043197	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	3	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Pro434Leu	VAR_043197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043197	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	83	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Glu451Lys	VAR_043199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043199	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	20	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Glu451Lys	VAR_043199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043199	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	100	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ser473Pro	VAR_008820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008820	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	68	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ser473Pro	VAR_008820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008820	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	118	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Pro474Leu	VAR_043200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043200	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	69	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Pro474Leu	VAR_043200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043200	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	118_G	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Cys479Tyr	VAR_043201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043201	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	74	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Cys479Tyr	VAR_043201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043201	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	118_G	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Tyr509Ser	VAR_043202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043202	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	128	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Tyr509Ser	VAR_043202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043202	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	148	COG1033	255652944,NP_000262
4864	83305902	Disease	p.His510Pro	VAR_008821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008821	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	129	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.His510Pro	VAR_008821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008821	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	149	COG1033	255652944,NP_000262
4864	83305902	Disease	p.His512Arg	VAR_043204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043204	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	131	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.His512Arg	VAR_043204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043204	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	151	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Arg518Gln	VAR_008822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008822	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	137	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Arg518Gln	VAR_008822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008822	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	153	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Arg518Trp	VAR_043205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043205	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	137	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Arg518Trp	VAR_043205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043205	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	153	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ala521Ser	VAR_043206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043206	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	140	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ala521Ser	VAR_043206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043206	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	156	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Phe537Leu	VAR_043207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043207	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	184	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Phe537Leu	VAR_043207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043207	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	172	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Pro543Leu	VAR_043208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043208	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	190	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Pro543Leu	VAR_043208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043208	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	173_G	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Thr574Lys	VAR_043209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043209	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	253	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Thr574Lys	VAR_043209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043209	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	204	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Lys576Arg	VAR_043210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043210	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	255	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Lys576Arg	VAR_043210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043210	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	206	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ala605Val	VAR_043211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043211	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	287	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ala605Val	VAR_043211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043211	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	240	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Glu612Asp	VAR_043212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043212	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	294	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Glu612Asp	VAR_043212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043212	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	247	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Arg615Cys	VAR_043213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043213	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	297	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Arg615Cys	VAR_043213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043213	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	250	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Arg615Leu	VAR_043214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043214	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	297	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Arg615Leu	VAR_043214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043214	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	250	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Met631Arg	VAR_043215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043215	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	313	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Met631Arg	VAR_043215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043215	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	264	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Gly640Arg	VAR_043216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043216	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	326	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Gly640Arg	VAR_043216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043216	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	272_G	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ser652Trp	VAR_043217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043217	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	341	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ser652Trp	VAR_043217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043217	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	277	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ser652Trp	VAR_043217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043217	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	4	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Gly660Ser	VAR_043218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043218	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	349	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Gly660Ser	VAR_043218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043218	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	289	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Gly660Ser	VAR_043218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043218	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	12	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Val664Met	VAR_043219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043219	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	353	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Val664Met	VAR_043219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043219	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	293	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Val664Met	VAR_043219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043219	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	16	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Ser666Asn	VAR_043220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043220	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	355	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ser666Asn	VAR_043220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043220	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	295	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ser666Asn	VAR_043220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043220	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	18	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Cys670Trp	VAR_043221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043221	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	359	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Cys670Trp	VAR_043221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043221	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	299	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Cys670Trp	VAR_043221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043221	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	22	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Gly673Val	VAR_043222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043222	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	362	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Gly673Val	VAR_043222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043222	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	302	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Gly673Val	VAR_043222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043222	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	25	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Leu684Phe	VAR_043223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043223	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	373	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Leu684Phe	VAR_043223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043223	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	315	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Leu684Phe	VAR_043223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043223	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	38	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Pro691Leu	VAR_043224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043224	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	379	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Pro691Leu	VAR_043224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043224	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	322	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Pro691Leu	VAR_043224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043224	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	45	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Leu695Val	VAR_043225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043225	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	383	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Leu695Val	VAR_043225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043225	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	325	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Leu695Val	VAR_043225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043225	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	49	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Asp700Asn	VAR_043226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043226	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	388	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Asp700Asn	VAR_043226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043226	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	330	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Asp700Asn	VAR_043226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043226	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	54	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Phe703Ser	VAR_043227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043227	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	391	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Phe703Ser	VAR_043227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043227	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	333	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Phe703Ser	VAR_043227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043227	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	57	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Leu724Pro	VAR_043228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043228	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	421	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Leu724Pro	VAR_043228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043228	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	358	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Leu724Pro	VAR_043228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043228	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	96	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Val727Phe	VAR_043229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043229	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	424	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Val727Phe	VAR_043229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043229	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	361	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Val727Phe	VAR_043229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043229	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	99	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Ser734Ile	VAR_043230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043230	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	431	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ser734Ile	VAR_043230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043230	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	368	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ser734Ile	VAR_043230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043230	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	106	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Glu742Lys	VAR_043231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043231	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	439	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Glu742Lys	VAR_043231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043231	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	376	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Glu742Lys	VAR_043231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043231	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	114	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Ala745Glu	VAR_043232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043232	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	442	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ala745Glu	VAR_043232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043232	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	379	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ala745Glu	VAR_043232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043232	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	117	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Met754Lys	VAR_043233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043233	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	451	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Met754Lys	VAR_043233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043233	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	389	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Met754Lys	VAR_043233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043233	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	127	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Phe763Leu	VAR_043234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043234	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	460	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Phe763Leu	VAR_043234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043234	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	398	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Phe763Leu	VAR_043234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043234	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	136	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Ala767Val	VAR_043235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043235	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	464	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ala767Val	VAR_043235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043235	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	402	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ala767Val	VAR_043235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043235	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	140	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Gln775Pro	VAR_043236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043236	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	472	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Gln775Pro	VAR_043236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043236	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	410	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Gln775Pro	VAR_043236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043236	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	148	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Arg789Cys	VAR_043237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043237	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	486	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Arg789Cys	VAR_043237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043237	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	425	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Arg789Cys	VAR_043237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043237	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	162	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Arg789Gly	VAR_043238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043238	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	486	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Arg789Gly	VAR_043238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043238	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	425	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Arg789Gly	VAR_043238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043238	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	162	pfam12349	255652944,NP_000262
4864	83305902	Disease	p.Tyr825Cys	VAR_043239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043239	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	609	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Tyr825Cys	VAR_043239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043239	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	482	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ser849Ile	VAR_043240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043240	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	633	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ser849Ile	VAR_043240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043240	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	502	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Gln862Leu	VAR_043241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043241	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	646	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Gln862Leu	VAR_043241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043241	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	515	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ser865Leu	VAR_043242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043242	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	649	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ser865Leu	VAR_043242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043242	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	520	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Tyr871Cys	VAR_043243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043243	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	655	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Tyr871Cys	VAR_043243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043243	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	526	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Asp874Val	VAR_043245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043245	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	658	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Asp874Val	VAR_043245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043245	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	529	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Pro888Ser	VAR_043246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043246	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	673	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Pro888Ser	VAR_043246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043246	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	544	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Val889Met	VAR_008826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008826	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	674	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Val889Met	VAR_008826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008826	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	545	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Tyr890Cys	VAR_043247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043247	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	675	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Tyr890Cys	VAR_043247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043247	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	546	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Tyr899Asp	VAR_043248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043248	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	684	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Tyr899Asp	VAR_043248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043248	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	564	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Gly910Ser	VAR_043249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043249	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	694_G	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Gly910Ser	VAR_043249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043249	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	572_G	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Asp917Tyr	VAR_043250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043250	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	695	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Asp917Tyr	VAR_043250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043250	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	573	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ala926Thr	VAR_043251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043251	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	704	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ala926Thr	VAR_043251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043251	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	582	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ala927Val	VAR_043252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043252	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	704_G	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ala927Val	VAR_043252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043252	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	583	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Gln928Pro	VAR_008827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008827	rs28940897 Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	704_G	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Gln928Pro	VAR_008827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008827	rs28940897 Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	584	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Leu929Pro	VAR_043253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043253	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	704_G	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Leu929Pro	VAR_043253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043253	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	592	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Arg934Gln	VAR_008828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008828	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	708	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Arg934Gln	VAR_008828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008828	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	598	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ser940Leu	VAR_008829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008829	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	718	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ser940Leu	VAR_008829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008829	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	604	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Trp942Cys	VAR_043254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043254	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	720	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Trp942Cys	VAR_043254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043254	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	606	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ile943Met	VAR_043255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043255	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	721	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ile943Met	VAR_043255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043255	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	607	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Asp944Asn	VAR_043256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043256	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	722	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Asp944Asn	VAR_043256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043256	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	640	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Asp945Asn	VAR_043257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043257	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	723	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Asp945Asn	VAR_043257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043257	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	641	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Asp948His	VAR_043258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043258	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	726	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Asp948His	VAR_043258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043258	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	644	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Asp948Asn	VAR_008830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008830	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	726	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Asp948Asn	VAR_008830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008830	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	644	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Asp948Tyr	VAR_043259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043259	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	726	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Asp948Tyr	VAR_043259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043259	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	644	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Val950Met	VAR_015563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015563	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	728	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Val950Met	VAR_015563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015563	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	650	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ser954Leu	VAR_008831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008831	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	738	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ser954Leu	VAR_008831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008831	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	673	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Cys956Tyr	VAR_008832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008832	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	740	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Cys956Tyr	VAR_008832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008832	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	675	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Arg958Leu	VAR_043260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043260	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	742	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Arg958Leu	VAR_043260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043260	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	677	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Arg958Gln	VAR_015564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015564	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	742	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Arg958Gln	VAR_015564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015564	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	677	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Val959Glu	VAR_043261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043261	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	743	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Val959Glu	VAR_043261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043261	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	678	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Asn961Ser	VAR_043263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043263	rs34084984 Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	745	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Asn961Ser	VAR_043263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043263	rs34084984 Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	679_G	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Asn968Ser	VAR_043264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043264	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	754	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Asn968Ser	VAR_043264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043264	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	685	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Cys976Arg	VAR_043266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043266	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	762	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Cys976Arg	VAR_043266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043266	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	692	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Arg978Cys	VAR_015565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015565	rs28942108 Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	762_G	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Arg978Cys	VAR_015565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015565	rs28942108 Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	694	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Gly986Ser	VAR_043267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043267	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	762_G	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Gly986Ser	VAR_043267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043267	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	702	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Gly992Ala	VAR_043268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043268	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	767	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Gly992Ala	VAR_043268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043268	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	707	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Gly992Arg	VAR_015566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015566	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	767	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Gly992Arg	VAR_015566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015566	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	707	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Gly992Trp	VAR_008833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008833	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	767	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Gly992Trp	VAR_008833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008833	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	707	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Met996Arg	VAR_043269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043269	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	771	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Met996Arg	VAR_043269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043269	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	711	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ser1004Leu	VAR_043270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043270	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	776_G	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ser1004Leu	VAR_043270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043270	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	721	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Pro1007Ala	VAR_008834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008834	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	776_G	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Pro1007Ala	VAR_008834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008834	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	724	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Gly1012Asp	VAR_043271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043271	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	776_G	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Gly1012Asp	VAR_043271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043271	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	729	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Gly1015Val	VAR_043272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043272	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	779	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Gly1015Val	VAR_043272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043272	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	731_G	COG1033	255652944,NP_000262
4864	83305902	Disease	p.His1016Arg	VAR_043273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043273	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	780	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.His1016Arg	VAR_043273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043273	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	731_G	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Val1023Gly	VAR_043274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043274	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	787	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Val1023Gly	VAR_043274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043274	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	737	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Gly1034Arg	VAR_043275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043275	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	804	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Gly1034Arg	VAR_043275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043275	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	744	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ala1035Val	VAR_015567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015567	rs28942107 Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	805	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ala1035Val	VAR_015567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015567	rs28942107 Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	745	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Thr1036Lys	VAR_043276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043276	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	806	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Thr1036Lys	VAR_043276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043276	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	746	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Thr1036Met	VAR_008835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008835	rs28942104 Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	806	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Thr1036Met	VAR_008835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008835	rs28942104 Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	746	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ala1054Thr	VAR_043278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043278	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	826	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ala1054Thr	VAR_043278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043278	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	764	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Arg1059Gln	VAR_043279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043279	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	831	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Arg1059Gln	VAR_043279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043279	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	767_G	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ile1061Thr	VAR_008836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008836	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	833	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ile1061Thr	VAR_008836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008836	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	769	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ala1062Val	VAR_043280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043280	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	834	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ala1062Val	VAR_043280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043280	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	770	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Thr1066Asn	VAR_043281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043281	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	836_G	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Thr1066Asn	VAR_043281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043281	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	774	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Phe1087Leu	VAR_043282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043282	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	853	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Phe1087Leu	VAR_043282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043282	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	788	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Tyr1088Cys	VAR_008837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008837	rs28942106 Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	854	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Tyr1088Cys	VAR_008837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008837	rs28942106 Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	789	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Glu1089Lys	VAR_043283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043283	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	855	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Glu1089Lys	VAR_043283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043283	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	790	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ile1094Thr	VAR_043284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043284	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	860	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ile1094Thr	VAR_043284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043284	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	795	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Asp1097Asn	VAR_043285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043285	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	863	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Asp1097Asn	VAR_043285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043285	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	798	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Asn1137Ile	VAR_043286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043286	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	902_G	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Asn1137Ile	VAR_043286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043286	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	837	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Gly1140Val	VAR_043287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043287	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	905	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Gly1140Val	VAR_043287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043287	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	840	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Met1142Thr	VAR_043288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043288	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	907	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Met1142Thr	VAR_043288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043288	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	842	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Asn1150Lys	VAR_043289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043289	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	915	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Asn1150Lys	VAR_043289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043289	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	852	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Asn1156Ile	VAR_043290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043290	rs28942105 Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	921	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Asn1156Ile	VAR_043290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043290	rs28942105 Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	858	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Asn1156Ser	VAR_008838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008838	rs28942105 Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	921	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Asn1156Ser	VAR_008838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008838	rs28942105 Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	858	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Val1165Met	VAR_043291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043291	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	930	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Val1165Met	VAR_043291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043291	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	867	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Phe1167Leu	VAR_008839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008839	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	932	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Phe1167Leu	VAR_008839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008839	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	869	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Cys1168Tyr	VAR_043292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043292	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	933	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Cys1168Tyr	VAR_043292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043292	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	870	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ala1174Val	VAR_043293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043293	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	939	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ala1174Val	VAR_043293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043293	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	876	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Arg1186His	VAR_008840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008840	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	956	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Arg1186His	VAR_008840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008840	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	891	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Glu1189Gly	VAR_043294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043294	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	959	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Glu1189Gly	VAR_043294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043294	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	895	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Thr1205Lys	VAR_043295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043295	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	975	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Thr1205Lys	VAR_043295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043295	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	910	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Thr1205Arg	VAR_043296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043296	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	975	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Thr1205Arg	VAR_043296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043296	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	910	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Val1212Leu	VAR_043297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043297	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	981	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Val1212Leu	VAR_043297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043297	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	917	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Leu1213Phe	VAR_008841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008841	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	982	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Leu1213Phe	VAR_008841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008841	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	918	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Leu1213Val	VAR_008842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008842	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	982	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Leu1213Val	VAR_008842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008842	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	918	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ala1216Val	VAR_043298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043298	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	985	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ala1216Val	VAR_043298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043298	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	921	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Phe1224Leu	VAR_043299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043299	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	993	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Phe1224Leu	VAR_043299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043299	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	929	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Gly1236Glu	VAR_043300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043300	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	1004	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Gly1236Glu	VAR_043300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043300	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	940	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Gly1240Arg	VAR_043301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043301	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	1008	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Gly1240Arg	VAR_043301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043301	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	944	COG1033	255652944,NP_000262
4864	83305902	Disease	p.Ser1249Gly	VAR_043302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043302	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	1017	pfam02460	255652944,NP_000262
4864	83305902	Disease	p.Ser1249Gly	VAR_043302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043302	- Niemann-Pick disease type C1 (NPDC1) [MIM:257220]	SWISS	953	COG1033	255652944,NP_000262
10577	48429027	Disease	p.Val30Met	VAR_043303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043303	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	5_G	cd00918	5453678,NP_006423
10577	48429027	Disease	p.Val30Met	VAR_043303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043303	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	11	smart00737	5453678,NP_006423
10577	48429027	Disease	p.Val30Met	VAR_043303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043303	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	7	cd00916	5453678,NP_006423
10577	48429027	Disease	p.Val30Met	VAR_043303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043303	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	7	cd00912	5453678,NP_006423
10577	48429027	Disease	p.Val30Met	VAR_043303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043303	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	17	pfam02221	5453678,NP_006423
10577	48429027	Disease	p.Val39Met	VAR_015848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015848	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	14	cd00918	5453678,NP_006423
10577	48429027	Disease	p.Val39Met	VAR_015848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015848	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	28	smart00737	5453678,NP_006423
10577	48429027	Disease	p.Val39Met	VAR_015848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015848	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	22	cd00916	5453678,NP_006423
10577	48429027	Disease	p.Val39Met	VAR_015848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015848	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	19	cd00912	5453678,NP_006423
10577	48429027	Disease	p.Val39Met	VAR_015848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015848	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	31	pfam02221	5453678,NP_006423
10577	48429027	Disease	p.Cys47Phe	VAR_043304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043304	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	23	cd00918	5453678,NP_006423
10577	48429027	Disease	p.Cys47Phe	VAR_043304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043304	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	65	smart00737	5453678,NP_006423
10577	48429027	Disease	p.Cys47Phe	VAR_043304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043304	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	36	cd00916	5453678,NP_006423
10577	48429027	Disease	p.Cys47Phe	VAR_043304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043304	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	35	cd00912	5453678,NP_006423
10577	48429027	Disease	p.Cys47Phe	VAR_043304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043304	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	48	pfam02221	5453678,NP_006423
10577	48429027	Disease	p.Ser67Pro	VAR_015849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015849	rs11694 Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	43	cd00918	5453678,NP_006423
10577	48429027	Disease	p.Ser67Pro	VAR_015849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015849	rs11694 Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	86	smart00737	5453678,NP_006423
10577	48429027	Disease	p.Ser67Pro	VAR_015849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015849	rs11694 Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	56	cd00916	5453678,NP_006423
10577	48429027	Disease	p.Ser67Pro	VAR_015849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015849	rs11694 Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	55	cd00912	5453678,NP_006423
10577	48429027	Disease	p.Ser67Pro	VAR_015849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015849	rs11694 Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	71	pfam02221	5453678,NP_006423
10577	48429027	Disease	p.Cys93Phe	VAR_043305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043305	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	70	cd00918	5453678,NP_006423
10577	48429027	Disease	p.Cys93Phe	VAR_043305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043305	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	136	smart00737	5453678,NP_006423
10577	48429027	Disease	p.Cys93Phe	VAR_043305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043305	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	92	cd00916	5453678,NP_006423
10577	48429027	Disease	p.Cys93Phe	VAR_043305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043305	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	97	cd00912	5453678,NP_006423
10577	48429027	Disease	p.Cys93Phe	VAR_043305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043305	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	102	pfam02221	5453678,NP_006423
10577	48429027	Disease	p.Cys99Arg	VAR_043306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043306	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	75	cd00918	5453678,NP_006423
10577	48429027	Disease	p.Cys99Arg	VAR_043306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043306	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	170	smart00737	5453678,NP_006423
10577	48429027	Disease	p.Cys99Arg	VAR_043306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043306	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	106	cd00916	5453678,NP_006423
10577	48429027	Disease	p.Cys99Arg	VAR_043306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043306	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	123	cd00912	5453678,NP_006423
10577	48429027	Disease	p.Cys99Arg	VAR_043306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043306	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	121	pfam02221	5453678,NP_006423
10577	48429027	Disease	p.Pro120Ser	VAR_043307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043307	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	97	cd00918	5453678,NP_006423
10577	48429027	Disease	p.Pro120Ser	VAR_043307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043307	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	209	smart00737	5453678,NP_006423
10577	48429027	Disease	p.Pro120Ser	VAR_043307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043307	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	127	cd00916	5453678,NP_006423
10577	48429027	Disease	p.Pro120Ser	VAR_043307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043307	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	150	cd00912	5453678,NP_006423
10577	48429027	Disease	p.Pro120Ser	VAR_043307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043307	- Niemann-Pick disease type C2 (NPDC2) [MIM:607625]	SWISS	145	pfam02221	5453678,NP_006423
4867	17367909	Disease	p.Gly342Arg	VAR_012160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012160	- Nephronophthisis type 1 (NPHP1) [MIM:256100]	SWISS	No Domain	N/A	189491774,NP_997064
27031	68565783	Disease	p.Ser360Thr	VAR_022815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022815	- Nephronophthisis type 3 (NPHP3) [MIM:604387]	SWISS	No Domain	N/A	34304360,NP_694972
27031	68565783	Disease	p.Asn386Ser	VAR_022816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022816	- Nephronophthisis type 3 (NPHP3) [MIM:604387]	SWISS	No Domain	N/A	34304360,NP_694972
27031	68565783	Disease	p.Arg397His	VAR_022817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022817	- Nephronophthisis type 3 (NPHP3) [MIM:604387]	SWISS	No Domain	N/A	34304360,NP_694972
27031	68565783	Disease	p.Arg973Gln	VAR_044121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044121	- Renal-hepatic-pancreatic dysplasia (RHPD) [MIM:208540]	SWISS	36_G	cd00189	34304360,NP_694972
27031	68565783	Disease	p.Arg973Gln	VAR_044121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044121	- Renal-hepatic-pancreatic dysplasia (RHPD) [MIM:208540]	SWISS	172	COG0457	34304360,NP_694972
27031	68565783	Disease	p.Leu1141Pro	VAR_022818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022818	- Nephronophthisis type 3 (NPHP3) [MIM:604387]	SWISS	8	smart00028	34304360,NP_694972
27031	68565783	Disease	p.Leu1141Pro	VAR_022818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022818	- Nephronophthisis type 3 (NPHP3) [MIM:604387]	SWISS	7	pfam00515	34304360,NP_694972
27031	68565783	Disease	p.Leu1141Pro	VAR_022818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022818	- Nephronophthisis type 3 (NPHP3) [MIM:604387]	SWISS	155	cd00189	34304360,NP_694972
27031	68565783	Disease	p.Leu1141Pro	VAR_022818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022818	- Nephronophthisis type 3 (NPHP3) [MIM:604387]	SWISS	471	COG0457	34304360,NP_694972
27031	68565783	Disease	p.Ala1221Val	VAR_022819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022819	- Nephronophthisis type 3 (NPHP3) [MIM:604387]	SWISS	3	pfam00515	34304360,NP_694972
27031	68565783	Disease	p.Ala1221Val	VAR_022819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022819	- Nephronophthisis type 3 (NPHP3) [MIM:604387]	SWISS	3	pfam07719	34304360,NP_694972
27031	68565783	Disease	p.Ala1221Val	VAR_022819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022819	- Nephronophthisis type 3 (NPHP3) [MIM:604387]	SWISS	3	smart00028	34304360,NP_694972
27031	68565783	Disease	p.Ala1221Val	VAR_022819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022819	- Nephronophthisis type 3 (NPHP3) [MIM:604387]	SWISS	64	cd00189	34304360,NP_694972
27031	68565783	Disease	p.Ala1221Val	VAR_022819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022819	- Nephronophthisis type 3 (NPHP3) [MIM:604387]	SWISS	771	COG0457	34304360,NP_694972
27031	68565783	Disease	p.Ser1252Arg	VAR_022820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022820	- Nephronophthisis type 3 (NPHP3) [MIM:604387]	SWISS	123	cd00189	34304360,NP_694972
27031	68565783	Disease	p.Ser1252Arg	VAR_022820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022820	- Nephronophthisis type 3 (NPHP3) [MIM:604387]	SWISS	821	COG0457	34304360,NP_694972
27031	68565783	Disease	p.Ser1314Thr	VAR_022821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022821	- Nephronophthisis type 3 (NPHP3) [MIM:604387]	SWISS	No Domain	N/A	34304360,NP_694972
261734	27923813	Disease	p.Asp3Tyr	VAR_022526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022526	- Senior-Loken syndrome type 4 (SLSN4) [MIM:606996]	SWISS	No Domain	N/A	23510323,NP_055917
261734	27923813	Disease	p.Phe91Leu	VAR_022528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022528	- Senior-Loken syndrome type 4 (SLSN4) [MIM:606996]	SWISS	No Domain	N/A	23510323,NP_055917
261734	27923813	Disease	p.Arg342Cys	VAR_022529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022529	- Nephronophthisis type 4 (NPHP4) [MIM:606966]	SWISS	No Domain	N/A	23510323,NP_055917
261734	27923813	Disease	p.Arg469Trp	VAR_022530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022530	- Nephronophthisis type 4 (NPHP4) [MIM:606966]	SWISS	No Domain	N/A	23510323,NP_055917
261734	27923813	Disease	p.Thr627Met	VAR_022533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022533	- Senior-Loken syndrome type 4 (SLSN4) [MIM:606996]	SWISS	No Domain	N/A	23510323,NP_055917
261734	27923813	Disease	p.Ala654Gly	VAR_022534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022534	- Nephronophthisis type 4 (NPHP4) [MIM:606966]	SWISS	No Domain	N/A	23510323,NP_055917
261734	27923813	Disease	p.Arg735Trp	VAR_022535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022535	- Nephronophthisis type 4 (NPHP4) [MIM:606966]	SWISS	No Domain	N/A	23510323,NP_055917
261734	27923813	Disease	p.Gly754Arg	VAR_015214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015214	- Nephronophthisis type 4 (NPHP4) [MIM:606966]	SWISS	No Domain	N/A	23510323,NP_055917
261734	27923813	Disease	p.Gln766Arg	VAR_022538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022538	- Nephronophthisis type 4 (NPHP4) [MIM:606966]	SWISS	No Domain	N/A	23510323,NP_055917
261734	27923813	Disease	p.Pro776Arg	VAR_022539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022539	- Nephronophthisis type 4 (NPHP4) [MIM:606966]	SWISS	No Domain	N/A	23510323,NP_055917
261734	27923813	Disease	p.His782Gln	VAR_022540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022540	- Nephronophthisis type 4 (NPHP4) [MIM:606966]	SWISS	No Domain	N/A	23510323,NP_055917
261734	27923813	Disease	p.Thr946Ala	VAR_022542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022542	- Senior-Loken syndrome type 4 (SLSN4) [MIM:606996]	SWISS	No Domain	N/A	23510323,NP_055917
261734	27923813	Disease	p.Arg961His	VAR_022543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022543	- Nephronophthisis type 4 (NPHP4) [MIM:606966]	SWISS	No Domain	N/A	23510323,NP_055917
261734	27923813	Disease	p.Phe991Ser	VAR_015186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015186	rs28940891 Nephronophthisis type 4 (NPHP4) [MIM:606966]	SWISS	No Domain	N/A	23510323,NP_055917
261734	27923813	Disease	p.Ala1098Thr	VAR_022544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022544	rs41280798 Nephronophthisis type 4 (NPHP4) [MIM:606966]	SWISS	No Domain	N/A	23510323,NP_055917
261734	27923813	Disease	p.Arg1192Trp	VAR_022545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022545	- Nephronophthisis type 4 (NPHP4) [MIM:606966]	SWISS	No Domain	N/A	23510323,NP_055917
261734	27923813	Disease	p.Thr1225Met	VAR_022546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022546	- Senior-Loken syndrome type 4 (SLSN4) [MIM:606996]	SWISS	No Domain	N/A	23510323,NP_055917
261734	27923813	Disease	p.Arg1284Cys	VAR_022547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022547	- Nephronophthisis type 4 (NPHP4) [MIM:606966]	SWISS	No Domain	N/A	23510323,NP_055917
261734	27923813	Disease	p.Gln1287Glu	VAR_022548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022548	- Nephronophthisis type 4 (NPHP4) [MIM:606966]	SWISS	No Domain	N/A	23510323,NP_055917
4868	20177993	Disease	p.Trp64Ser	VAR_013029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013029	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	36	pfam07686	4758822,NP_004637
4868	20177993	Disease	p.Trp64Ser	VAR_013029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013029	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	48	smart00409	4758822,NP_004637
4868	20177993	Disease	p.Trp64Ser	VAR_013029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013029	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	48	smart00410	4758822,NP_004637
4868	20177993	Disease	p.Trp64Ser	VAR_013029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013029	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	31	cd00096	4758822,NP_004637
4868	20177993	Disease	p.Ile171Asn	VAR_013031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013031	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	41	pfam08205	4758822,NP_004637
4868	20177993	Disease	p.Ile173Asn	VAR_013033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013033	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	43	pfam08205	4758822,NP_004637
4868	20177993	Disease	p.Gly270Cys	VAR_013035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013035	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	27	cd07693	4758822,NP_004637
4868	20177993	Disease	p.Gly270Cys	VAR_013035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013035	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	10	cd00096	4758822,NP_004637
4868	20177993	Disease	p.Gly270Cys	VAR_013035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013035	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	11	cd05759	4758822,NP_004637
4868	20177993	Disease	p.Gly270Cys	VAR_013035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013035	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	24	smart00409	4758822,NP_004637
4868	20177993	Disease	p.Gly270Cys	VAR_013035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013035	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	24	smart00410	4758822,NP_004637
4868	20177993	Disease	p.Gly270Cys	VAR_013035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013035	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	17	pfam00047	4758822,NP_004637
4868	20177993	Disease	p.Gly270Cys	VAR_013035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013035	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	35	pfam08205	4758822,NP_004637
4868	20177993	Disease	p.Gly270Cys	VAR_013035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013035	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	28	pfam07679	4758822,NP_004637
4868	20177993	Disease	p.Gly270Cys	VAR_013035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013035	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	11	cd05761	4758822,NP_004637
4868	20177993	Disease	p.Ser350Pro	VAR_013036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013036	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	9	pfam08205	4758822,NP_004637
4868	20177993	Disease	p.Ser366Arg	VAR_013037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013037	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	35	pfam08205	4758822,NP_004637
4868	20177993	Disease	p.Arg367Cys	VAR_013038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013038	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	36	pfam08205	4758822,NP_004637
4868	20177993	Disease	p.Pro368Ser	VAR_013039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013039	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	37	pfam08205	4758822,NP_004637
4868	20177993	Disease	p.Leu376Val	VAR_013040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013040	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	45	pfam08205	4758822,NP_004637
4868	20177993	Disease	p.Arg408Gln	VAR_013041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013041	rs33950747 Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	86	pfam08205	4758822,NP_004637
4868	20177993	Disease	p.Glu447Lys	VAR_013042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013042	rs28939695 Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	4	pfam08205	4758822,NP_004637
4868	20177993	Disease	p.Cys465Tyr	VAR_013043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013043	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	27	pfam08205	4758822,NP_004637
4868	20177993	Disease	p.Cys528Phe	VAR_013044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013044	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	96	pfam08205	4758822,NP_004637
4868	20177993	Disease	p.Leu610Gln	VAR_013045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013045	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	82	pfam08205	4758822,NP_004637
4868	20177993	Disease	p.Cys623Phe	VAR_013046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013046	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	96	pfam08205	4758822,NP_004637
4868	20177993	Disease	p.Ser724Cys	VAR_013047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013047	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	100	pfam07679	4758822,NP_004637
4868	20177993	Disease	p.Ser724Cys	VAR_013047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013047	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	224	smart00409	4758822,NP_004637
4868	20177993	Disease	p.Ser724Cys	VAR_013047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013047	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	224	smart00410	4758822,NP_004637
4868	20177993	Disease	p.Arg743Cys	VAR_013048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013048	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	No Domain	N/A	4758822,NP_004637
4868	20177993	Disease	p.Arg802Pro	VAR_013050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013050	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	178	smart00409	4758822,NP_004637
4868	20177993	Disease	p.Arg802Pro	VAR_013050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013050	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	178	smart00410	4758822,NP_004637
4868	20177993	Disease	p.Arg802Trp	VAR_013049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013049	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	178	smart00409	4758822,NP_004637
4868	20177993	Disease	p.Arg802Trp	VAR_013049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013049	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	178	smart00410	4758822,NP_004637
4868	20177993	Disease	p.Ala806Asp	VAR_013051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013051	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	182	smart00409	4758822,NP_004637
4868	20177993	Disease	p.Ala806Asp	VAR_013051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013051	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	182	smart00410	4758822,NP_004637
4868	20177993	Disease	p.Asp819Val	VAR_013052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013052	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	206	smart00409	4758822,NP_004637
4868	20177993	Disease	p.Asp819Val	VAR_013052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013052	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	206	smart00410	4758822,NP_004637
4868	20177993	Disease	p.Arg831Cys	VAR_013053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013053	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	247	smart00409	4758822,NP_004637
4868	20177993	Disease	p.Arg831Cys	VAR_013053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013053	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	247	smart00410	4758822,NP_004637
4868	20177993	Disease	p.Arg1140Cys	VAR_013055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013055	- Congenital nephrotic syndrome of the Finnish type (NPHS1) [MIM:256300]	SWISS	No Domain	N/A	4758822,NP_004637
7827	12230467	Disease	p.Pro20Leu	VAR_010231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010231	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	No Domain	N/A	7657615,NP_055440
7827	12230467	Disease	p.Gly92Cys	VAR_010232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010232	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	No Domain	N/A	7657615,NP_055440
7827	12230467	Disease	p.Arg138Gln	VAR_010233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010233	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	30	smart00244	7657615,NP_055440
7827	12230467	Disease	p.Arg138Gln	VAR_010233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010233	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	11	cd03403	7657615,NP_055440
7827	12230467	Disease	p.Arg138Gln	VAR_010233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010233	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	14	cd03405	7657615,NP_055440
7827	12230467	Disease	p.Arg138Gln	VAR_010233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010233	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	34	pfam01145	7657615,NP_055440
7827	12230467	Disease	p.Arg138Gln	VAR_010233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010233	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	29	cd03404	7657615,NP_055440
7827	12230467	Disease	p.Arg138Gln	VAR_010233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010233	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	63	COG0330	7657615,NP_055440
7827	12230467	Disease	p.Asp160Gly	VAR_010234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010234	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	70	smart00244	7657615,NP_055440
7827	12230467	Disease	p.Asp160Gly	VAR_010234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010234	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	43	cd03403	7657615,NP_055440
7827	12230467	Disease	p.Asp160Gly	VAR_010234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010234	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	46	cd03405	7657615,NP_055440
7827	12230467	Disease	p.Asp160Gly	VAR_010234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010234	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	182	pfam01145	7657615,NP_055440
7827	12230467	Disease	p.Asp160Gly	VAR_010234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010234	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	50	cd03404	7657615,NP_055440
7827	12230467	Disease	p.Asp160Gly	VAR_010234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010234	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	109	COG0330	7657615,NP_055440
7827	12230467	Disease	p.Val180Met	VAR_010235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010235	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	187	smart00244	7657615,NP_055440
7827	12230467	Disease	p.Val180Met	VAR_010235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010235	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	94	cd03403	7657615,NP_055440
7827	12230467	Disease	p.Val180Met	VAR_010235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010235	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	17	cd02106	7657615,NP_055440
7827	12230467	Disease	p.Val180Met	VAR_010235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010235	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	70	cd03405	7657615,NP_055440
7827	12230467	Disease	p.Val180Met	VAR_010235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010235	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	288	pfam01145	7657615,NP_055440
7827	12230467	Disease	p.Val180Met	VAR_010235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010235	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	100	cd03404	7657615,NP_055440
7827	12230467	Disease	p.Val180Met	VAR_010235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010235	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	153	COG0330	7657615,NP_055440
7827	12230467	Disease	p.Arg291Trp	VAR_010236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010236	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	229	cd03403	7657615,NP_055440
7827	12230467	Disease	p.Arg291Trp	VAR_010236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010236	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	259	cd03405	7657615,NP_055440
7827	12230467	Disease	p.Arg291Trp	VAR_010236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010236	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	658	pfam01145	7657615,NP_055440
7827	12230467	Disease	p.Arg291Trp	VAR_010236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010236	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	277	cd03404	7657615,NP_055440
7827	12230467	Disease	p.Arg291Trp	VAR_010236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010236	- Autosomal recessive steroid-resistant nephrotic syndrome (SRN) [MIM:600995]	SWISS	360	COG0330	7657615,NP_055440
4882	113916	Disease	p.Pro32Thr	VAR_022583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022583	rs28931581 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	7	cd06350	4580422,NP_003986
4882	113916	Disease	p.Pro32Thr	VAR_022583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022583	rs28931581 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	7	cd06351	4580422,NP_003986
4882	113916	Disease	p.Pro32Thr	VAR_022583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022583	rs28931581 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	7	cd01391	4580422,NP_003986
4882	113916	Disease	p.Pro32Thr	VAR_022583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022583	rs28931581 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	7	cd06268	4580422,NP_003986
4882	113916	Disease	p.Pro32Thr	VAR_022583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022583	rs28931581 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	7	cd06352	4580422,NP_003986
4882	113916	Disease	p.Pro32Thr	VAR_022583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022583	rs28931581 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	7	cd06384	4580422,NP_003986
4882	113916	Disease	p.Pro32Thr	VAR_022583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022583	rs28931581 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	7	cd06269	4580422,NP_003986
4882	113916	Disease	p.Pro32Thr	VAR_022583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022583	rs28931581 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	7	cd06373	4580422,NP_003986
4882	113916	Disease	p.Pro32Thr	VAR_022583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022583	rs28931581 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	7	cd06385	4580422,NP_003986
4882	113916	Disease	p.Pro32Thr	VAR_022583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022583	rs28931581 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	7	cd04509	4580422,NP_003986
4882	113916	Disease	p.Pro32Thr	VAR_022583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022583	rs28931581 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	7	cd06371	4580422,NP_003986
4882	113916	Disease	p.Pro32Thr	VAR_022583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022583	rs28931581 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	7	cd06386	4580422,NP_003986
4882	113916	Disease	p.Pro32Thr	VAR_022583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022583	rs28931581 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	6	cd06366	4580422,NP_003986
4882	113916	Disease	p.Pro32Thr	VAR_022583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022583	rs28931581 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	7	cd06370	4580422,NP_003986
4882	113916	Disease	p.Trp115Gly	VAR_022584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022584	rs28931582 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	193	cd06350	4580422,NP_003986
4882	113916	Disease	p.Trp115Gly	VAR_022584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022584	rs28931582 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	294	cd06351	4580422,NP_003986
4882	113916	Disease	p.Trp115Gly	VAR_022584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022584	rs28931582 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	161	cd01391	4580422,NP_003986
4882	113916	Disease	p.Trp115Gly	VAR_022584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022584	rs28931582 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	181	cd06268	4580422,NP_003986
4882	113916	Disease	p.Trp115Gly	VAR_022584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022584	rs28931582 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	160	cd06352	4580422,NP_003986
4882	113916	Disease	p.Trp115Gly	VAR_022584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022584	rs28931582 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	99	cd06384	4580422,NP_003986
4882	113916	Disease	p.Trp115Gly	VAR_022584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022584	rs28931582 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	312	cd06269	4580422,NP_003986
4882	113916	Disease	p.Trp115Gly	VAR_022584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022584	rs28931582 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	122	cd06373	4580422,NP_003986
4882	113916	Disease	p.Trp115Gly	VAR_022584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022584	rs28931582 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	97	cd06385	4580422,NP_003986
4882	113916	Disease	p.Trp115Gly	VAR_022584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022584	rs28931582 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	161	cd04509	4580422,NP_003986
4882	113916	Disease	p.Trp115Gly	VAR_022584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022584	rs28931582 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	113	cd06371	4580422,NP_003986
4882	113916	Disease	p.Trp115Gly	VAR_022584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022584	rs28931582 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	97	cd06386	4580422,NP_003986
4882	113916	Disease	p.Trp115Gly	VAR_022584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022584	rs28931582 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	165	pfam01094	4580422,NP_003986
4882	113916	Disease	p.Trp115Gly	VAR_022584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022584	rs28931582 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	137	cd06366	4580422,NP_003986
4882	113916	Disease	p.Trp115Gly	VAR_022584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022584	rs28931582 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	100	cd06370	4580422,NP_003986
4882	113916	Disease	p.Trp115Gly	VAR_022584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022584	rs28931582 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	91	cd06372	4580422,NP_003986
4882	113916	Disease	p.Asp176Glu	VAR_022585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022585	rs28929479 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	262	cd06350	4580422,NP_003986
4882	113916	Disease	p.Asp176Glu	VAR_022585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022585	rs28929479 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	392	cd06351	4580422,NP_003986
4882	113916	Disease	p.Asp176Glu	VAR_022585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022585	rs28929479 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	248	cd01391	4580422,NP_003986
4882	113916	Disease	p.Asp176Glu	VAR_022585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022585	rs28929479 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	259	cd06268	4580422,NP_003986
4882	113916	Disease	p.Asp176Glu	VAR_022585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022585	rs28929479 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	257	cd06352	4580422,NP_003986
4882	113916	Disease	p.Asp176Glu	VAR_022585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022585	rs28929479 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	160	cd06384	4580422,NP_003986
4882	113916	Disease	p.Asp176Glu	VAR_022585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022585	rs28929479 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	418	cd06269	4580422,NP_003986
4882	113916	Disease	p.Asp176Glu	VAR_022585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022585	rs28929479 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	221	cd06373	4580422,NP_003986
4882	113916	Disease	p.Asp176Glu	VAR_022585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022585	rs28929479 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	159	cd06385	4580422,NP_003986
4882	113916	Disease	p.Asp176Glu	VAR_022585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022585	rs28929479 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	238	cd04509	4580422,NP_003986
4882	113916	Disease	p.Asp176Glu	VAR_022585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022585	rs28929479 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	171	cd06371	4580422,NP_003986
4882	113916	Disease	p.Asp176Glu	VAR_022585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022585	rs28929479 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	156	cd06386	4580422,NP_003986
4882	113916	Disease	p.Asp176Glu	VAR_022585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022585	rs28929479 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	313	pfam01094	4580422,NP_003986
4882	113916	Disease	p.Asp176Glu	VAR_022585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022585	rs28929479 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	193	cd06366	4580422,NP_003986
4882	113916	Disease	p.Asp176Glu	VAR_022585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022585	rs28929479 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	161	cd06370	4580422,NP_003986
4882	113916	Disease	p.Asp176Glu	VAR_022585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022585	rs28929479 Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	153	cd06372	4580422,NP_003986
4882	113916	Disease	p.Thr297Met	VAR_022586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022586	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	435	cd06350	4580422,NP_003986
4882	113916	Disease	p.Thr297Met	VAR_022586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022586	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	680	cd06351	4580422,NP_003986
4882	113916	Disease	p.Thr297Met	VAR_022586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022586	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	441	cd01391	4580422,NP_003986
4882	113916	Disease	p.Thr297Met	VAR_022586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022586	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	418	cd06268	4580422,NP_003986
4882	113916	Disease	p.Thr297Met	VAR_022586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022586	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	451	cd06352	4580422,NP_003986
4882	113916	Disease	p.Thr297Met	VAR_022586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022586	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	287	cd06384	4580422,NP_003986
4882	113916	Disease	p.Thr297Met	VAR_022586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022586	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	740	cd06269	4580422,NP_003986
4882	113916	Disease	p.Thr297Met	VAR_022586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022586	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	373	cd06373	4580422,NP_003986
4882	113916	Disease	p.Thr297Met	VAR_022586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022586	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	283	cd06385	4580422,NP_003986
4882	113916	Disease	p.Thr297Met	VAR_022586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022586	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	423	cd04509	4580422,NP_003986
4882	113916	Disease	p.Thr297Met	VAR_022586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022586	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	317	cd06371	4580422,NP_003986
4882	113916	Disease	p.Thr297Met	VAR_022586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022586	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	275	cd06386	4580422,NP_003986
4882	113916	Disease	p.Thr297Met	VAR_022586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022586	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	493	pfam01094	4580422,NP_003986
4882	113916	Disease	p.Thr297Met	VAR_022586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022586	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	345	cd06366	4580422,NP_003986
4882	113916	Disease	p.Thr297Met	VAR_022586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022586	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	323	cd06370	4580422,NP_003986
4882	113916	Disease	p.Thr297Met	VAR_022586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022586	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	262	cd06372	4580422,NP_003986
4882	113916	Disease	p.Tyr338Cys	VAR_022587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022587	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	560	cd06350	4580422,NP_003986
4882	113916	Disease	p.Tyr338Cys	VAR_022587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022587	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	774	cd06351	4580422,NP_003986
4882	113916	Disease	p.Tyr338Cys	VAR_022587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022587	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	543	cd01391	4580422,NP_003986
4882	113916	Disease	p.Tyr338Cys	VAR_022587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022587	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	476	cd06268	4580422,NP_003986
4882	113916	Disease	p.Tyr338Cys	VAR_022587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022587	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	533	cd06352	4580422,NP_003986
4882	113916	Disease	p.Tyr338Cys	VAR_022587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022587	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	328	cd06384	4580422,NP_003986
4882	113916	Disease	p.Tyr338Cys	VAR_022587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022587	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	847	cd06269	4580422,NP_003986
4882	113916	Disease	p.Tyr338Cys	VAR_022587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022587	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	417	cd06373	4580422,NP_003986
4882	113916	Disease	p.Tyr338Cys	VAR_022587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022587	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	324	cd06385	4580422,NP_003986
4882	113916	Disease	p.Tyr338Cys	VAR_022587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022587	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	525	cd04509	4580422,NP_003986
4882	113916	Disease	p.Tyr338Cys	VAR_022587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022587	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	363	cd06371	4580422,NP_003986
4882	113916	Disease	p.Tyr338Cys	VAR_022587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022587	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	317	cd06386	4580422,NP_003986
4882	113916	Disease	p.Tyr338Cys	VAR_022587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022587	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	670	pfam01094	4580422,NP_003986
4882	113916	Disease	p.Tyr338Cys	VAR_022587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022587	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	437	cd06366	4580422,NP_003986
4882	113916	Disease	p.Tyr338Cys	VAR_022587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022587	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	399	cd06370	4580422,NP_003986
4882	113916	Disease	p.Tyr338Cys	VAR_022587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022587	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	304	cd06372	4580422,NP_003986
4882	113916	Disease	p.Ala409Thr	VAR_022588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022588	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	716	cd06350	4580422,NP_003986
4882	113916	Disease	p.Ala409Thr	VAR_022588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022588	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	1082	cd06351	4580422,NP_003986
4882	113916	Disease	p.Ala409Thr	VAR_022588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022588	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	619	cd06352	4580422,NP_003986
4882	113916	Disease	p.Ala409Thr	VAR_022588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022588	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	399	cd06384	4580422,NP_003986
4882	113916	Disease	p.Ala409Thr	VAR_022588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022588	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	1129	cd06269	4580422,NP_003986
4882	113916	Disease	p.Ala409Thr	VAR_022588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022588	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	494	cd06373	4580422,NP_003986
4882	113916	Disease	p.Ala409Thr	VAR_022588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022588	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	401	cd06385	4580422,NP_003986
4882	113916	Disease	p.Ala409Thr	VAR_022588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022588	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	388	cd06386	4580422,NP_003986
4882	113916	Disease	p.Ala409Thr	VAR_022588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022588	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	492	cd06370	4580422,NP_003986
4882	113916	Disease	p.Ala409Thr	VAR_022588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022588	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	381	cd06372	4580422,NP_003986
4882	113916	Disease	p.Gly413Glu	VAR_022589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022589	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	723	cd06350	4580422,NP_003986
4882	113916	Disease	p.Gly413Glu	VAR_022589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022589	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	1096	cd06351	4580422,NP_003986
4882	113916	Disease	p.Gly413Glu	VAR_022589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022589	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	623	cd06352	4580422,NP_003986
4882	113916	Disease	p.Gly413Glu	VAR_022589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022589	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	403	cd06384	4580422,NP_003986
4882	113916	Disease	p.Gly413Glu	VAR_022589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022589	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	1133	cd06269	4580422,NP_003986
4882	113916	Disease	p.Gly413Glu	VAR_022589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022589	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	498	cd06373	4580422,NP_003986
4882	113916	Disease	p.Gly413Glu	VAR_022589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022589	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	405	cd06385	4580422,NP_003986
4882	113916	Disease	p.Gly413Glu	VAR_022589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022589	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	392	cd06386	4580422,NP_003986
4882	113916	Disease	p.Gly413Glu	VAR_022589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022589	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	385	cd06372	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	255	cd05572	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	210	cd06632	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	669	cd00180	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	195	cd05047	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	207	cd05088	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	190	cd08529	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	778	smart00220	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	185	cd06642	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	185	cd06641	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	185	cd06640	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	184	cd07839	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	204	cd06612	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	194	cd06625	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	876	COG0515	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	189	cd05052	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	188	cd05073	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	187	cd05070	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	187	cd05069	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	193	cd05068	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	187	cd05071	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	185	cd05112	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	185	cd05114	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	186	cd05113	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	198	cd06607	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	187	cd05067	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	195	cd05110	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	195	cd05108	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	195	cd05109	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	219	cd05050	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	187	cd05059	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	215	cd05037	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	190	cd05039	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	179	cd05085	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	435	cd05581	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	208	cd06610	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	197	cd05042	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	204	cd07837	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	215	cd07865	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	192	cd07847	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	198	cd06917	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	182	cd05116	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	198	cd06634	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	200	cd06628	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	208	cd07845	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	243	cd06623	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	330	cd06606	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	257	cd08217	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	253	cd08215	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	202	cd05089	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	222	cd07841	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	273	cd07834	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	229	cd06627	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	207	cd07832	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	194	cd05080	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	192	cd08530	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	194	cd06631	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	381	pfam07714	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	183	cd05082	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	188	cd05072	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	182	cd05115	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	193	cd05086	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	197	cd05040	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	336	pfam00069	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	239	cd07829	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	277	cd07840	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	198	cd05034	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	796	cd05123	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	197	cd05118	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	191	cd08224	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	193	cd06621	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	208	cd06605	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	190	cd06620	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	175	smart00750	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	203	cd05044	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	728	cd05579	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	190	cd07853	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	190	cd08228	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	190	cd08229	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	220	cd05100	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	238	cd06614	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	195	cd05063	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	229	cd05122	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	193	cd05058	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	207	cd06618	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	325	cd05055	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	249	cd05057	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	250	cd05032	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	195	cd05065	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	196	cd05079	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	271	cd05046	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	187	cd07846	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	195	cd05111	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	184	cd06615	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	215	cd06609	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	231	cd06626	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	218	cd05049	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	223	cd05056	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	190	cd08222	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	213	cd05048	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	213	cd05045	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	194	cd06611	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	190	cd05148	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	200	cd06648	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	193	cd05077	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	206	cd05061	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	205	cd05062	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	217	cd05097	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	573	smart00219	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	200	cd06624	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	839	smart00221	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	236	cd05053	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	207	cd08528	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	197	cd08216	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	209	cd05035	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	199	cd05074	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	181	cd05083	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	231	cd05043	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	198	cd06619	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	226	cd05098	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	191	cd05078	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	422	cd00192	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	182	cd05041	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	193	cd05064	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	210	cd05091	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	195	cd05081	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	193	cd05066	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	208	cd05036	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	193	cd06651	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	223	cd05101	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	229	cd05033	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	193	cd06613	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	189	cd05060	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	205	cd07864	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	198	cd05087	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	180	cd05084	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	220	cd05099	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	222	cd05038	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	208	cd05092	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	206	cd05093	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	208	cd06635	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	256	cd05051	4580422,NP_003986
4882	113916	Disease	p.Tyr708Cys	VAR_022590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022590	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	227	cd05095	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	325	cd05572	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	271	cd06632	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	851	cd00180	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	255	cd05047	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	267	cd05088	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	253	cd08529	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	1197	smart00220	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	244	cd06642	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	244	cd06641	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	244	cd06640	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	274	cd07839	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	267	cd06612	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	254	cd06625	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	1173	COG0515	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	249	cd05052	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	248	cd05073	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	247	cd05070	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	247	cd05069	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	253	cd05068	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	247	cd05071	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	245	cd05112	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	245	cd05114	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	246	cd05113	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	264	cd06607	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	273	cd05067	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	255	cd05110	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	255	cd05108	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	255	cd05109	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	279	cd05050	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	247	cd05059	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	284	cd05037	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	251	cd05039	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	239	cd05085	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	518	cd05581	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	280	cd06610	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	261	cd05042	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	290	cd07837	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	342	cd07865	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	292	cd07847	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	261	cd06917	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	242	cd05116	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	260	cd06634	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	260	cd06628	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	328	cd07845	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	329	cd06623	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	418	cd06606	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	317	cd08217	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	326	cd08215	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	262	cd05089	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	325	cd07841	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	449	cd07834	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	291	cd06627	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	311	cd07832	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	268	cd05080	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	252	cd08530	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	255	cd06631	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	472	pfam07714	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	243	cd05082	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	248	cd05072	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	242	cd05115	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	257	cd05086	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	259	cd05040	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	457	pfam00069	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	353	cd07829	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	408	cd07840	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	260	cd05034	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	912	cd05123	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	299	cd05118	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	254	cd08224	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	266	cd06621	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	329	cd06605	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	315	cd06620	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	276	smart00750	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	263	cd05044	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	812	cd05579	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	291	cd07853	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	252	cd08228	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	252	cd08229	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	281	cd05100	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	299	cd06614	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	255	cd05063	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	342	cd05122	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	253	cd05058	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	273	cd06618	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	386	cd05055	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	309	cd05057	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	314	cd05032	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	255	cd05065	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	270	cd05079	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	333	cd05046	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	295	cd07846	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	255	cd05111	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	293	cd06615	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	283	cd06609	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	296	cd06626	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	281	cd05049	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	284	cd05056	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	249	cd08222	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	273	cd05048	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	273	cd05045	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	255	cd06611	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	283	cd05148	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	262	cd06648	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	251	cd05077	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	266	cd05061	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	265	cd05062	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	285	cd05097	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	690	smart00219	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	261	cd06624	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	1071	smart00221	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	297	cd05053	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	267	cd08528	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	302	cd08216	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	270	cd05035	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	259	cd05074	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	241	cd05083	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	291	cd05043	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	274	cd06619	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	286	cd05098	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	249	cd05078	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	510	cd00192	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	242	cd05041	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	253	cd05064	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	270	cd05091	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	270	cd05081	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	253	cd05066	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	268	cd05036	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	260	cd06651	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	283	cd05101	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	289	cd05033	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	256	cd06613	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	249	cd05060	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	303	cd07864	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	262	cd05087	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	240	cd05084	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	280	cd05099	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	316	cd05038	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	268	cd05092	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	266	cd05093	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	268	cd06635	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	340	cd05051	4580422,NP_003986
4882	113916	Disease	p.Arg776Trp	VAR_022591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022591	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	296	cd05095	4580422,NP_003986
4882	113916	Disease	p.Arg957Cys	VAR_022592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022592	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	312	smart00044	4580422,NP_003986
4882	113916	Disease	p.Arg957Cys	VAR_022592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022592	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	150	cd07556	4580422,NP_003986
4882	113916	Disease	p.Arg957Cys	VAR_022592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022592	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	255	cd07302	4580422,NP_003986
4882	113916	Disease	p.Arg957Cys	VAR_022592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022592	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	290	COG2114	4580422,NP_003986
4882	113916	Disease	p.Arg957Cys	VAR_022592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022592	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	177	pfam00211	4580422,NP_003986
4882	113916	Disease	p.Gly959Ala	VAR_022593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022593	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	314	smart00044	4580422,NP_003986
4882	113916	Disease	p.Gly959Ala	VAR_022593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022593	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	152	cd07556	4580422,NP_003986
4882	113916	Disease	p.Gly959Ala	VAR_022593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022593	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	257	cd07302	4580422,NP_003986
4882	113916	Disease	p.Gly959Ala	VAR_022593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022593	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	292	COG2114	4580422,NP_003986
4882	113916	Disease	p.Gly959Ala	VAR_022593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022593	- Acromesomelic dysplasia Maroteaux type (AMDM) [MIM:602875]	SWISS	179	pfam00211	4580422,NP_003986
190	20532385	Disease	p.Arg267Pro	VAR_004738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004738	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	37	cd07349	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	VAR_004738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004738	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	16	cd06157	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	VAR_004738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004738	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	17	cd06930	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	VAR_004738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004738	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	59	cd06943	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	VAR_004738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004738	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	20	cd06929	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	VAR_004738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004738	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	27	cd06944	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	VAR_004738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004738	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	47	cd06950	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	VAR_004738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004738	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	10	smart00430	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	VAR_004738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004738	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	40	cd07350	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	VAR_004738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004738	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	38	cd06951	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	VAR_004738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004738	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	53	cd06931	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	VAR_004738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004738	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	49	cd06948	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	VAR_004738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004738	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	39	cd06952	5016090,NP_000466
190	20532385	Disease	p.Arg267Pro	VAR_004738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004738	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	69	cd07068	5016090,NP_000466
190	20532385	Disease	p.Leu278Pro	VAR_031079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031079	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	48	cd07349	5016090,NP_000466
190	20532385	Disease	p.Leu278Pro	VAR_031079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031079	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	30	cd06157	5016090,NP_000466
190	20532385	Disease	p.Leu278Pro	VAR_031079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031079	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	28	cd06930	5016090,NP_000466
190	20532385	Disease	p.Leu278Pro	VAR_031079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031079	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	72	cd06943	5016090,NP_000466
190	20532385	Disease	p.Leu278Pro	VAR_031079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031079	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	32	cd06929	5016090,NP_000466
190	20532385	Disease	p.Leu278Pro	VAR_031079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031079	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	70	cd06944	5016090,NP_000466
190	20532385	Disease	p.Leu278Pro	VAR_031079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031079	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	58	cd06950	5016090,NP_000466
190	20532385	Disease	p.Leu278Pro	VAR_031079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031079	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	29	smart00430	5016090,NP_000466
190	20532385	Disease	p.Leu278Pro	VAR_031079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031079	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	51	cd07350	5016090,NP_000466
190	20532385	Disease	p.Leu278Pro	VAR_031079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031079	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	49	cd06951	5016090,NP_000466
190	20532385	Disease	p.Leu278Pro	VAR_031079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031079	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	64	cd06931	5016090,NP_000466
190	20532385	Disease	p.Leu278Pro	VAR_031079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031079	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	60	cd06948	5016090,NP_000466
190	20532385	Disease	p.Leu278Pro	VAR_031079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031079	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	50	cd06952	5016090,NP_000466
190	20532385	Disease	p.Leu278Pro	VAR_031079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031079	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	95	cd07068	5016090,NP_000466
190	20532385	Disease	p.Val287Gly	VAR_004740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004740	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	57	cd07349	5016090,NP_000466
190	20532385	Disease	p.Val287Gly	VAR_004740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004740	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	39	cd06157	5016090,NP_000466
190	20532385	Disease	p.Val287Gly	VAR_004740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004740	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	37	cd06930	5016090,NP_000466
190	20532385	Disease	p.Val287Gly	VAR_004740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004740	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	81	cd06943	5016090,NP_000466
190	20532385	Disease	p.Val287Gly	VAR_004740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004740	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	6	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Val287Gly	VAR_004740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004740	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	41	cd06929	5016090,NP_000466
190	20532385	Disease	p.Val287Gly	VAR_004740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004740	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	79	cd06944	5016090,NP_000466
190	20532385	Disease	p.Val287Gly	VAR_004740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004740	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	67	cd06950	5016090,NP_000466
190	20532385	Disease	p.Val287Gly	VAR_004740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004740	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	76	smart00430	5016090,NP_000466
190	20532385	Disease	p.Val287Gly	VAR_004740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004740	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	60	cd07350	5016090,NP_000466
190	20532385	Disease	p.Val287Gly	VAR_004740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004740	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	58	cd06951	5016090,NP_000466
190	20532385	Disease	p.Val287Gly	VAR_004740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004740	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	73	cd06931	5016090,NP_000466
190	20532385	Disease	p.Val287Gly	VAR_004740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004740	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	69	cd06948	5016090,NP_000466
190	20532385	Disease	p.Val287Gly	VAR_004740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004740	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	59	cd06952	5016090,NP_000466
190	20532385	Disease	p.Val287Gly	VAR_004740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004740	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	104	cd07068	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	VAR_031080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031080	rs28935482 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	61	cd07349	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	VAR_031080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031080	rs28935482 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	43	cd06157	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	VAR_031080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031080	rs28935482 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	41	cd06930	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	VAR_031080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031080	rs28935482 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	85	cd06943	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	VAR_031080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031080	rs28935482 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	10	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	VAR_031080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031080	rs28935482 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	45	cd06929	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	VAR_031080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031080	rs28935482 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	83	cd06944	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	VAR_031080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031080	rs28935482 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	71	cd06950	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	VAR_031080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031080	rs28935482 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	173	smart00430	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	VAR_031080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031080	rs28935482 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	64	cd07350	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	VAR_031080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031080	rs28935482 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	62	cd06951	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	VAR_031080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031080	rs28935482 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	77	cd06931	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	VAR_031080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031080	rs28935482 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	73	cd06948	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	VAR_031080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031080	rs28935482 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	63	cd06952	5016090,NP_000466
190	20532385	Disease	p.Trp291Cys	VAR_031080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031080	rs28935482 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	108	cd07068	5016090,NP_000466
190	20532385	Disease	p.Leu295Pro	VAR_018303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018303	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	65	cd07349	5016090,NP_000466
190	20532385	Disease	p.Leu295Pro	VAR_018303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018303	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	48	cd06157	5016090,NP_000466
190	20532385	Disease	p.Leu295Pro	VAR_018303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018303	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	45	cd06930	5016090,NP_000466
190	20532385	Disease	p.Leu295Pro	VAR_018303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018303	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	89	cd06943	5016090,NP_000466
190	20532385	Disease	p.Leu295Pro	VAR_018303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018303	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	15	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Leu295Pro	VAR_018303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018303	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	50	cd06929	5016090,NP_000466
190	20532385	Disease	p.Leu295Pro	VAR_018303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018303	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	87	cd06944	5016090,NP_000466
190	20532385	Disease	p.Leu295Pro	VAR_018303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018303	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	75	cd06950	5016090,NP_000466
190	20532385	Disease	p.Leu295Pro	VAR_018303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018303	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	178	smart00430	5016090,NP_000466
190	20532385	Disease	p.Leu295Pro	VAR_018303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018303	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	68	cd07350	5016090,NP_000466
190	20532385	Disease	p.Leu295Pro	VAR_018303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018303	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	66	cd06951	5016090,NP_000466
190	20532385	Disease	p.Leu295Pro	VAR_018303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018303	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	81	cd06931	5016090,NP_000466
190	20532385	Disease	p.Leu295Pro	VAR_018303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018303	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	77	cd06948	5016090,NP_000466
190	20532385	Disease	p.Leu295Pro	VAR_018303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018303	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	67	cd06952	5016090,NP_000466
190	20532385	Disease	p.Leu295Pro	VAR_018303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018303	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	112	cd07068	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	VAR_031081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031081	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	67	cd07349	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	VAR_031081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031081	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	50	cd06157	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	VAR_031081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031081	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	47	cd06930	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	VAR_031081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031081	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	91	cd06943	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	VAR_031081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031081	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	17	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	VAR_031081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031081	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	52	cd06929	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	VAR_031081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031081	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	89	cd06944	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	VAR_031081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031081	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	77	cd06950	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	VAR_031081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031081	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	180	smart00430	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	VAR_031081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031081	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	70	cd07350	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	VAR_031081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031081	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	68	cd06951	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	VAR_031081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031081	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	83	cd06931	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	VAR_031081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031081	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	79	cd06948	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	VAR_031081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031081	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	69	cd06952	5016090,NP_000466
190	20532385	Disease	p.Leu297Pro	VAR_031081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031081	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	114	cd07068	5016090,NP_000466
190	20532385	Disease	p.Ala300Pro	VAR_018304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018304	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	70	cd07349	5016090,NP_000466
190	20532385	Disease	p.Ala300Pro	VAR_018304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018304	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	53	cd06157	5016090,NP_000466
190	20532385	Disease	p.Ala300Pro	VAR_018304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018304	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	50	cd06930	5016090,NP_000466
190	20532385	Disease	p.Ala300Pro	VAR_018304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018304	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	94	cd06943	5016090,NP_000466
190	20532385	Disease	p.Ala300Pro	VAR_018304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018304	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	20	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Ala300Pro	VAR_018304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018304	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	55	cd06929	5016090,NP_000466
190	20532385	Disease	p.Ala300Pro	VAR_018304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018304	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	92	cd06944	5016090,NP_000466
190	20532385	Disease	p.Ala300Pro	VAR_018304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018304	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	80	cd06950	5016090,NP_000466
190	20532385	Disease	p.Ala300Pro	VAR_018304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018304	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	183	smart00430	5016090,NP_000466
190	20532385	Disease	p.Ala300Pro	VAR_018304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018304	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	73	cd07350	5016090,NP_000466
190	20532385	Disease	p.Ala300Pro	VAR_018304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018304	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	71	cd06951	5016090,NP_000466
190	20532385	Disease	p.Ala300Pro	VAR_018304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018304	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	86	cd06931	5016090,NP_000466
190	20532385	Disease	p.Ala300Pro	VAR_018304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018304	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	82	cd06948	5016090,NP_000466
190	20532385	Disease	p.Ala300Pro	VAR_018304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018304	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	72	cd06952	5016090,NP_000466
190	20532385	Disease	p.Ala300Pro	VAR_018304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018304	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	117	cd07068	5016090,NP_000466
190	20532385	Disease	p.Ala300Val	VAR_004741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004741	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	70	cd07349	5016090,NP_000466
190	20532385	Disease	p.Ala300Val	VAR_004741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004741	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	53	cd06157	5016090,NP_000466
190	20532385	Disease	p.Ala300Val	VAR_004741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004741	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	50	cd06930	5016090,NP_000466
190	20532385	Disease	p.Ala300Val	VAR_004741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004741	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	94	cd06943	5016090,NP_000466
190	20532385	Disease	p.Ala300Val	VAR_004741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004741	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	20	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Ala300Val	VAR_004741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004741	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	55	cd06929	5016090,NP_000466
190	20532385	Disease	p.Ala300Val	VAR_004741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004741	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	92	cd06944	5016090,NP_000466
190	20532385	Disease	p.Ala300Val	VAR_004741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004741	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	80	cd06950	5016090,NP_000466
190	20532385	Disease	p.Ala300Val	VAR_004741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004741	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	183	smart00430	5016090,NP_000466
190	20532385	Disease	p.Ala300Val	VAR_004741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004741	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	73	cd07350	5016090,NP_000466
190	20532385	Disease	p.Ala300Val	VAR_004741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004741	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	71	cd06951	5016090,NP_000466
190	20532385	Disease	p.Ala300Val	VAR_004741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004741	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	86	cd06931	5016090,NP_000466
190	20532385	Disease	p.Ala300Val	VAR_004741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004741	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	82	cd06948	5016090,NP_000466
190	20532385	Disease	p.Ala300Val	VAR_004741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004741	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	72	cd06952	5016090,NP_000466
190	20532385	Disease	p.Ala300Val	VAR_004741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004741	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	117	cd07068	5016090,NP_000466
190	20532385	Disease	p.Glu377Lys	VAR_004742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004742	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	134	cd07349	5016090,NP_000466
190	20532385	Disease	p.Glu377Lys	VAR_004742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004742	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	130	cd06157	5016090,NP_000466
190	20532385	Disease	p.Glu377Lys	VAR_004742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004742	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	133	cd06930	5016090,NP_000466
190	20532385	Disease	p.Glu377Lys	VAR_004742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004742	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	173	cd06943	5016090,NP_000466
190	20532385	Disease	p.Glu377Lys	VAR_004742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004742	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	162	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Glu377Lys	VAR_004742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004742	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	140	cd06929	5016090,NP_000466
190	20532385	Disease	p.Glu377Lys	VAR_004742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004742	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	149	cd06944	5016090,NP_000466
190	20532385	Disease	p.Glu377Lys	VAR_004742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004742	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	133	cd06950	5016090,NP_000466
190	20532385	Disease	p.Glu377Lys	VAR_004742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004742	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	702	smart00430	5016090,NP_000466
190	20532385	Disease	p.Glu377Lys	VAR_004742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004742	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	154	cd07350	5016090,NP_000466
190	20532385	Disease	p.Glu377Lys	VAR_004742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004742	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	148	cd06951	5016090,NP_000466
190	20532385	Disease	p.Glu377Lys	VAR_004742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004742	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	143	cd06931	5016090,NP_000466
190	20532385	Disease	p.Glu377Lys	VAR_004742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004742	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	143	cd06948	5016090,NP_000466
190	20532385	Disease	p.Glu377Lys	VAR_004742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004742	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	131	cd06952	5016090,NP_000466
190	20532385	Disease	p.Glu377Lys	VAR_004742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004742	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	178	cd07068	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	VAR_018300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018300	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	137	cd07349	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	VAR_018300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018300	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	133	cd06157	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	VAR_018300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018300	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	136	cd06930	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	VAR_018300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018300	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	176	cd06943	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	VAR_018300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018300	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	166	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	VAR_018300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018300	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	145	cd06929	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	VAR_018300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018300	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	152	cd06944	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	VAR_018300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018300	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	136	cd06950	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	VAR_018300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018300	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	705	smart00430	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	VAR_018300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018300	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	157	cd07350	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	VAR_018300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018300	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	151	cd06951	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	VAR_018300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018300	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	146	cd06931	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	VAR_018300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018300	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	146	cd06948	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	VAR_018300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018300	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	134	cd06952	5016090,NP_000466
190	20532385	Disease	p.Tyr380Asp	VAR_018300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018300	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	181	cd07068	5016090,NP_000466
190	20532385	Disease	p.Leu381His	VAR_018301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018301	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	138	cd07349	5016090,NP_000466
190	20532385	Disease	p.Leu381His	VAR_018301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018301	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	134	cd06157	5016090,NP_000466
190	20532385	Disease	p.Leu381His	VAR_018301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018301	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	137	cd06930	5016090,NP_000466
190	20532385	Disease	p.Leu381His	VAR_018301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018301	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	177	cd06943	5016090,NP_000466
190	20532385	Disease	p.Leu381His	VAR_018301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018301	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	167	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Leu381His	VAR_018301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018301	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	146	cd06929	5016090,NP_000466
190	20532385	Disease	p.Leu381His	VAR_018301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018301	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	153	cd06944	5016090,NP_000466
190	20532385	Disease	p.Leu381His	VAR_018301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018301	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	137	cd06950	5016090,NP_000466
190	20532385	Disease	p.Leu381His	VAR_018301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018301	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	706	smart00430	5016090,NP_000466
190	20532385	Disease	p.Leu381His	VAR_018301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018301	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	158	cd07350	5016090,NP_000466
190	20532385	Disease	p.Leu381His	VAR_018301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018301	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	152	cd06951	5016090,NP_000466
190	20532385	Disease	p.Leu381His	VAR_018301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018301	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	147	cd06931	5016090,NP_000466
190	20532385	Disease	p.Leu381His	VAR_018301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018301	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	147	cd06948	5016090,NP_000466
190	20532385	Disease	p.Leu381His	VAR_018301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018301	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	135	cd06952	5016090,NP_000466
190	20532385	Disease	p.Leu381His	VAR_018301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018301	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	182	cd07068	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	VAR_004743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004743	rs28935180 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	139	cd07349	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	VAR_004743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004743	rs28935180 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	135	cd06157	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	VAR_004743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004743	rs28935180 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	138	cd06930	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	VAR_004743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004743	rs28935180 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	178	cd06943	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	VAR_004743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004743	rs28935180 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	168	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	VAR_004743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004743	rs28935180 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	147	cd06929	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	VAR_004743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004743	rs28935180 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	154	cd06944	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	VAR_004743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004743	rs28935180 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	138	cd06950	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	VAR_004743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004743	rs28935180 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	707	smart00430	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	VAR_004743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004743	rs28935180 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	159	cd07350	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	VAR_004743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004743	rs28935180 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	153	cd06951	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	VAR_004743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004743	rs28935180 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	148	cd06931	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	VAR_004743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004743	rs28935180 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	148	cd06948	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	VAR_004743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004743	rs28935180 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	136	cd06952	5016090,NP_000466
190	20532385	Disease	p.Lys382Asn	VAR_004743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004743	rs28935180 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	183	cd07068	5016090,NP_000466
190	20532385	Disease	p.Val385Gly	VAR_004744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004744	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	142	cd07349	5016090,NP_000466
190	20532385	Disease	p.Val385Gly	VAR_004744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004744	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	138	cd06157	5016090,NP_000466
190	20532385	Disease	p.Val385Gly	VAR_004744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004744	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	141	cd06930	5016090,NP_000466
190	20532385	Disease	p.Val385Gly	VAR_004744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004744	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	181	cd06943	5016090,NP_000466
190	20532385	Disease	p.Val385Gly	VAR_004744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004744	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	171	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Val385Gly	VAR_004744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004744	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	150	cd06929	5016090,NP_000466
190	20532385	Disease	p.Val385Gly	VAR_004744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004744	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	157	cd06944	5016090,NP_000466
190	20532385	Disease	p.Val385Gly	VAR_004744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004744	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	141	cd06950	5016090,NP_000466
190	20532385	Disease	p.Val385Gly	VAR_004744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004744	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	710	smart00430	5016090,NP_000466
190	20532385	Disease	p.Val385Gly	VAR_004744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004744	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	162	cd07350	5016090,NP_000466
190	20532385	Disease	p.Val385Gly	VAR_004744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004744	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	156	cd06951	5016090,NP_000466
190	20532385	Disease	p.Val385Gly	VAR_004744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004744	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	151	cd06931	5016090,NP_000466
190	20532385	Disease	p.Val385Gly	VAR_004744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004744	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	151	cd06948	5016090,NP_000466
190	20532385	Disease	p.Val385Gly	VAR_004744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004744	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	139	cd06952	5016090,NP_000466
190	20532385	Disease	p.Val385Gly	VAR_004744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004744	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	186	cd07068	5016090,NP_000466
190	20532385	Disease	p.Arg425Gly	VAR_004745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004745	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	182	cd07349	5016090,NP_000466
190	20532385	Disease	p.Arg425Gly	VAR_004745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004745	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	193	cd06157	5016090,NP_000466
190	20532385	Disease	p.Arg425Gly	VAR_004745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004745	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	214	cd06930	5016090,NP_000466
190	20532385	Disease	p.Arg425Gly	VAR_004745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004745	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	221	cd06943	5016090,NP_000466
190	20532385	Disease	p.Arg425Gly	VAR_004745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004745	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	310	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Arg425Gly	VAR_004745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004745	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	216	cd06929	5016090,NP_000466
190	20532385	Disease	p.Arg425Gly	VAR_004745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004745	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	201	cd06944	5016090,NP_000466
190	20532385	Disease	p.Arg425Gly	VAR_004745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004745	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	200	cd06950	5016090,NP_000466
190	20532385	Disease	p.Arg425Gly	VAR_004745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004745	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	867	smart00430	5016090,NP_000466
190	20532385	Disease	p.Arg425Gly	VAR_004745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004745	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	202	cd07350	5016090,NP_000466
190	20532385	Disease	p.Arg425Gly	VAR_004745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004745	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	196	cd06951	5016090,NP_000466
190	20532385	Disease	p.Arg425Gly	VAR_004745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004745	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	193	cd06931	5016090,NP_000466
190	20532385	Disease	p.Arg425Gly	VAR_004745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004745	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	194	cd06948	5016090,NP_000466
190	20532385	Disease	p.Arg425Gly	VAR_004745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004745	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	212	cd06952	5016090,NP_000466
190	20532385	Disease	p.Arg425Gly	VAR_004745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004745	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	239	cd07068	5016090,NP_000466
190	20532385	Disease	p.Arg425Thr	VAR_018305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018305	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	182	cd07349	5016090,NP_000466
190	20532385	Disease	p.Arg425Thr	VAR_018305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018305	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	193	cd06157	5016090,NP_000466
190	20532385	Disease	p.Arg425Thr	VAR_018305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018305	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	214	cd06930	5016090,NP_000466
190	20532385	Disease	p.Arg425Thr	VAR_018305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018305	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	221	cd06943	5016090,NP_000466
190	20532385	Disease	p.Arg425Thr	VAR_018305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018305	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	310	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Arg425Thr	VAR_018305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018305	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	216	cd06929	5016090,NP_000466
190	20532385	Disease	p.Arg425Thr	VAR_018305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018305	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	201	cd06944	5016090,NP_000466
190	20532385	Disease	p.Arg425Thr	VAR_018305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018305	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	200	cd06950	5016090,NP_000466
190	20532385	Disease	p.Arg425Thr	VAR_018305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018305	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	867	smart00430	5016090,NP_000466
190	20532385	Disease	p.Arg425Thr	VAR_018305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018305	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	202	cd07350	5016090,NP_000466
190	20532385	Disease	p.Arg425Thr	VAR_018305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018305	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	196	cd06951	5016090,NP_000466
190	20532385	Disease	p.Arg425Thr	VAR_018305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018305	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	193	cd06931	5016090,NP_000466
190	20532385	Disease	p.Arg425Thr	VAR_018305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018305	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	194	cd06948	5016090,NP_000466
190	20532385	Disease	p.Arg425Thr	VAR_018305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018305	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	212	cd06952	5016090,NP_000466
190	20532385	Disease	p.Arg425Thr	VAR_018305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018305	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	239	cd07068	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	VAR_018302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018302	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	196	cd07349	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	VAR_018302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018302	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	331	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	VAR_018302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018302	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	230	cd06929	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	VAR_018302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018302	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	215	cd06944	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	VAR_018302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018302	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	214	cd06950	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	VAR_018302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018302	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	216	cd07350	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	VAR_018302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018302	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	210	cd06951	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	VAR_018302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018302	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	207	cd06931	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	VAR_018302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018302	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	208	cd06948	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	VAR_018302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018302	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	226	cd06952	5016090,NP_000466
190	20532385	Disease	p.Ile439Ser	VAR_018302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018302	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	253	cd07068	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	VAR_004746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004746	rs28935481 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	197	cd07349	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	VAR_004746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004746	rs28935481 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	332	pfam00104	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	VAR_004746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004746	rs28935481 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	231	cd06929	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	VAR_004746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004746	rs28935481 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	216	cd06944	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	VAR_004746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004746	rs28935481 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	215	cd06950	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	VAR_004746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004746	rs28935481 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	217	cd07350	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	VAR_004746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004746	rs28935481 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	211	cd06951	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	VAR_004746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004746	rs28935481 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	208	cd06931	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	VAR_004746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004746	rs28935481 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	209	cd06948	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	VAR_004746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004746	rs28935481 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	227	cd06952	5016090,NP_000466
190	20532385	Disease	p.Asn440Ile	VAR_004746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004746	rs28935481 X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	254	cd07068	5016090,NP_000466
190	20532385	Disease	p.Leu466Arg	VAR_018306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018306	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	242	cd06944	5016090,NP_000466
190	20532385	Disease	p.Leu466Arg	VAR_018306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018306	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	239	cd06948	5016090,NP_000466
190	20532385	Disease	p.Leu466Arg	VAR_018306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018306	- X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]	SWISS	280	cd07068	5016090,NP_000466
8431	9978744	Disease	p.Arg57Trp	VAR_026015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026015	- Early-onset obesity [MIM:601665]	SWISS	26	cd07349	13259503,NP_068804
8431	9978744	Disease	p.Arg57Trp	VAR_026015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026015	- Early-onset obesity [MIM:601665]	SWISS	27	cd06951	13259503,NP_068804
8431	9978744	Disease	p.Arg57Trp	VAR_026015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026015	- Early-onset obesity [MIM:601665]	SWISS	29	cd07350	13259503,NP_068804
8431	9978744	Disease	p.Arg57Trp	VAR_026015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026015	- Early-onset obesity [MIM:601665]	SWISS	27	cd06944	13259503,NP_068804
8431	9978744	Disease	p.Arg57Trp	VAR_026015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026015	- Early-onset obesity [MIM:601665]	SWISS	5	cd06157	13259503,NP_068804
8431	9978744	Disease	p.Arg57Trp	VAR_026015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026015	- Early-onset obesity [MIM:601665]	SWISS	28	cd06952	13259503,NP_068804
8431	9978744	Disease	p.Arg57Trp	VAR_026015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026015	- Early-onset obesity [MIM:601665]	SWISS	38	cd06948	13259503,NP_068804
8431	9978744	Disease	p.Arg57Trp	VAR_026015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026015	- Early-onset obesity [MIM:601665]	SWISS	48	cd06943	13259503,NP_068804
8431	9978744	Disease	p.Arg57Trp	VAR_026015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026015	- Early-onset obesity [MIM:601665]	SWISS	20	cd06950	13259503,NP_068804
8431	9978744	Disease	p.Arg57Trp	VAR_026015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026015	- Early-onset obesity [MIM:601665]	SWISS	6	cd06930	13259503,NP_068804
8431	9978744	Disease	p.Arg57Trp	VAR_026015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026015	- Early-onset obesity [MIM:601665]	SWISS	9	cd06929	13259503,NP_068804
8431	9978744	Disease	p.Arg57Trp	VAR_026015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026015	- Early-onset obesity [MIM:601665]	SWISS	68	cd07068	13259503,NP_068804
8431	9978744	Disease	p.Arg57Trp	VAR_026015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026015	- Early-onset obesity [MIM:601665]	SWISS	42	cd06931	13259503,NP_068804
8431	9978744	Disease	p.Gly189Glu	VAR_026016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026016	- Early-onset obesity [MIM:601665]	SWISS	158	cd07349	13259503,NP_068804
8431	9978744	Disease	p.Gly189Glu	VAR_026016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026016	- Early-onset obesity [MIM:601665]	SWISS	172	cd06951	13259503,NP_068804
8431	9978744	Disease	p.Gly189Glu	VAR_026016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026016	- Early-onset obesity [MIM:601665]	SWISS	178	cd07350	13259503,NP_068804
8431	9978744	Disease	p.Gly189Glu	VAR_026016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026016	- Early-onset obesity [MIM:601665]	SWISS	177	cd06944	13259503,NP_068804
8431	9978744	Disease	p.Gly189Glu	VAR_026016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026016	- Early-onset obesity [MIM:601665]	SWISS	163	cd06157	13259503,NP_068804
8431	9978744	Disease	p.Gly189Glu	VAR_026016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026016	- Early-onset obesity [MIM:601665]	SWISS	159	cd06952	13259503,NP_068804
8431	9978744	Disease	p.Gly189Glu	VAR_026016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026016	- Early-onset obesity [MIM:601665]	SWISS	249	pfam00104	13259503,NP_068804
8431	9978744	Disease	p.Gly189Glu	VAR_026016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026016	- Early-onset obesity [MIM:601665]	SWISS	168	cd06948	13259503,NP_068804
8431	9978744	Disease	p.Gly189Glu	VAR_026016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026016	- Early-onset obesity [MIM:601665]	SWISS	786	smart00430	13259503,NP_068804
8431	9978744	Disease	p.Gly189Glu	VAR_026016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026016	- Early-onset obesity [MIM:601665]	SWISS	197	cd06943	13259503,NP_068804
8431	9978744	Disease	p.Gly189Glu	VAR_026016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026016	- Early-onset obesity [MIM:601665]	SWISS	176	cd06950	13259503,NP_068804
8431	9978744	Disease	p.Gly189Glu	VAR_026016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026016	- Early-onset obesity [MIM:601665]	SWISS	186	cd06930	13259503,NP_068804
8431	9978744	Disease	p.Gly189Glu	VAR_026016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026016	- Early-onset obesity [MIM:601665]	SWISS	169	cd06929	13259503,NP_068804
8431	9978744	Disease	p.Gly189Glu	VAR_026016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026016	- Early-onset obesity [MIM:601665]	SWISS	210	cd07068	13259503,NP_068804
8431	9978744	Disease	p.Gly189Glu	VAR_026016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026016	- Early-onset obesity [MIM:601665]	SWISS	169	cd06931	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	VAR_026017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026017	- Early-onset obesity [MIM:601665]	SWISS	164	cd07349	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	VAR_026017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026017	- Early-onset obesity [MIM:601665]	SWISS	178	cd06951	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	VAR_026017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026017	- Early-onset obesity [MIM:601665]	SWISS	184	cd07350	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	VAR_026017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026017	- Early-onset obesity [MIM:601665]	SWISS	183	cd06944	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	VAR_026017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026017	- Early-onset obesity [MIM:601665]	SWISS	169	cd06157	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	VAR_026017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026017	- Early-onset obesity [MIM:601665]	SWISS	165	cd06952	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	VAR_026017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026017	- Early-onset obesity [MIM:601665]	SWISS	255	pfam00104	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	VAR_026017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026017	- Early-onset obesity [MIM:601665]	SWISS	174	cd06948	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	VAR_026017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026017	- Early-onset obesity [MIM:601665]	SWISS	799	smart00430	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	VAR_026017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026017	- Early-onset obesity [MIM:601665]	SWISS	203	cd06943	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	VAR_026017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026017	- Early-onset obesity [MIM:601665]	SWISS	182	cd06950	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	VAR_026017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026017	- Early-onset obesity [MIM:601665]	SWISS	192	cd06930	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	VAR_026017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026017	- Early-onset obesity [MIM:601665]	SWISS	178	cd06929	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	VAR_026017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026017	- Early-onset obesity [MIM:601665]	SWISS	216	cd07068	13259503,NP_068804
8431	9978744	Disease	p.Ala195Ser	VAR_026017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026017	- Early-onset obesity [MIM:601665]	SWISS	175	cd06931	13259503,NP_068804
8431	9978744	Disease	p.Arg213Cys	VAR_026018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026018	- Early-onset obesity [MIM:601665]	SWISS	182	cd07349	13259503,NP_068804
8431	9978744	Disease	p.Arg213Cys	VAR_026018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026018	- Early-onset obesity [MIM:601665]	SWISS	196	cd06951	13259503,NP_068804
8431	9978744	Disease	p.Arg213Cys	VAR_026018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026018	- Early-onset obesity [MIM:601665]	SWISS	202	cd07350	13259503,NP_068804
8431	9978744	Disease	p.Arg213Cys	VAR_026018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026018	- Early-onset obesity [MIM:601665]	SWISS	201	cd06944	13259503,NP_068804
8431	9978744	Disease	p.Arg213Cys	VAR_026018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026018	- Early-onset obesity [MIM:601665]	SWISS	193	cd06157	13259503,NP_068804
8431	9978744	Disease	p.Arg213Cys	VAR_026018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026018	- Early-onset obesity [MIM:601665]	SWISS	212	cd06952	13259503,NP_068804
8431	9978744	Disease	p.Arg213Cys	VAR_026018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026018	- Early-onset obesity [MIM:601665]	SWISS	310	pfam00104	13259503,NP_068804
8431	9978744	Disease	p.Arg213Cys	VAR_026018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026018	- Early-onset obesity [MIM:601665]	SWISS	194	cd06948	13259503,NP_068804
8431	9978744	Disease	p.Arg213Cys	VAR_026018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026018	- Early-onset obesity [MIM:601665]	SWISS	867	smart00430	13259503,NP_068804
8431	9978744	Disease	p.Arg213Cys	VAR_026018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026018	- Early-onset obesity [MIM:601665]	SWISS	221	cd06943	13259503,NP_068804
8431	9978744	Disease	p.Arg213Cys	VAR_026018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026018	- Early-onset obesity [MIM:601665]	SWISS	200	cd06950	13259503,NP_068804
8431	9978744	Disease	p.Arg213Cys	VAR_026018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026018	- Early-onset obesity [MIM:601665]	SWISS	214	cd06930	13259503,NP_068804
8431	9978744	Disease	p.Arg213Cys	VAR_026018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026018	- Early-onset obesity [MIM:601665]	SWISS	216	cd06929	13259503,NP_068804
8431	9978744	Disease	p.Arg213Cys	VAR_026018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026018	- Early-onset obesity [MIM:601665]	SWISS	239	cd07068	13259503,NP_068804
8431	9978744	Disease	p.Arg213Cys	VAR_026018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026018	- Early-onset obesity [MIM:601665]	SWISS	193	cd06931	13259503,NP_068804
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	13	cd06962	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	15	cd07171	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	15	cd07166	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	15	cd07173	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	15	cd06967	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	11	cd06959	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	11	cd06965	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	11	cd06961	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	14	smart00399	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	16	cd06964	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	18	cd07168	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	18	cd06970	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	18	cd07169	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	16	cd07170	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	19	cd07163	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	10	cd06960	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	10	cd06957	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	10	cd07165	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	10	cd06963	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	10	cd06958	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	10	cd07167	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	10	cd07155	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	10	cd07179	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	13	cd07161	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	10	cd07156	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	10	cd06916	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	10	cd07158	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	10	cd07154	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	11	cd07162	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	10	cd07164	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	18	cd06955	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	12	cd07157	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	12	cd06969	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	17	cd06968	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	12	cd06966	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	12	cd06956	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	12	pfam00105	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	30	cd07160	7657395,NP_055064
10002	8928275	Disease	p.Gly56Arg	VAR_037026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037026	- Retinitis pigmentosa type 37 (RP37) [MIM:611131]	SWISS	14	cd07172	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	33	cd06962	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	35	cd07171	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	35	cd07166	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	35	cd07173	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	35	cd06967	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	31	cd06959	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	31	cd06965	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	31	cd06961	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	57	smart00399	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	36	cd06964	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	38	cd07168	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	38	cd06970	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	38	cd07169	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	36	cd07170	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	39	cd07163	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd06960	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd06957	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd07165	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd06963	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd06958	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd07167	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd07155	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd07179	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	33	cd07161	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd07156	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd06916	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd07158	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd07154	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	31	cd07162	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd07164	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	38	cd06955	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	32	cd07157	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	32	cd06969	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	37	cd06968	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	32	cd06966	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	32	cd06956	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	32	pfam00105	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	50	cd07160	7657395,NP_055064
10002	8928275	Disease	p.Arg76Gln	VAR_009266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009266	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	34	cd07172	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	33	cd06962	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	35	cd07171	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	35	cd07166	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	35	cd07173	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	35	cd06967	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	31	cd06959	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	31	cd06965	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	31	cd06961	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	57	smart00399	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	36	cd06964	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	38	cd07168	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	38	cd06970	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	38	cd07169	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	36	cd07170	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	39	cd07163	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd06960	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd06957	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd07165	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd06963	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd06958	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd07167	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd07155	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd07179	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	33	cd07161	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd07156	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd06916	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd07158	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd07154	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	31	cd07162	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	30	cd07164	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	38	cd06955	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	32	cd07157	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	32	cd06969	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	37	cd06968	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	32	cd06966	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	32	cd06956	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	32	pfam00105	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	50	cd07160	7657395,NP_055064
10002	8928275	Disease	p.Arg76Trp	VAR_009267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009267	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	34	cd07172	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	44	cd06962	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	47	cd07171	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	47	cd07166	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	46	cd07173	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	46	cd06967	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	42	cd06959	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	46	cd06965	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	48	cd06961	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	83	smart00399	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	47	cd06964	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	50	cd07168	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	50	cd06970	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	49_G	cd07169	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	47	cd07170	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	55	cd07163	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	44	cd06960	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	42	cd06957	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	41	cd07165	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	41	cd06963	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	41	cd06958	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	44	cd07167	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	41	cd07155	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	49	cd07179	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	44_G	cd07161	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	43	cd07156	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	59	cd06916	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	42	cd07158	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	43	cd07154	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	43	cd07162	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	41	cd07164	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	49	cd06955	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	53	cd07157	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	44	cd06969	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	48	cd06968	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	43	cd06966	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	43	cd06956	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	47	pfam00105	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	63	cd07160	7657395,NP_055064
10002	8928275	Disease	p.Gly88Val	VAR_020839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020839	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	54	cd07172	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	53	cd06962	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	56	cd07171	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	56	cd07166	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	55	cd07173	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	55	cd06967	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	51	cd06959	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	55	cd06965	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	57	cd06961	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	118	smart00399	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	56	cd06964	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	59	cd07168	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	59	cd06970	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	58	cd07169	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	56	cd07170	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	64	cd07163	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	53	cd06960	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	51	cd06957	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	50	cd07165	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	50	cd06963	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	50	cd06958	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	53	cd07167	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	50	cd07155	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	58	cd07179	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	53	cd07161	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	52	cd07156	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	68	cd06916	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	51	cd07158	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	52	cd07154	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	52	cd07162	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	50	cd07164	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	58	cd06955	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	62	cd07157	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	53	cd06969	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	57	cd06968	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	52	cd06966	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	52	cd06956	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	56	pfam00105	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	72	cd07160	7657395,NP_055064
10002	8928275	Disease	p.Arg97His	VAR_010025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010025	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	63	cd07172	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	60	cd06962	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	63	cd07171	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	63	cd07166	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	62	cd07173	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	62	cd06967	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	58	cd06959	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	62	cd06965	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	64	cd06961	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	125	smart00399	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	63	cd06964	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	66	cd07168	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	66	cd06970	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	65	cd07169	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	63	cd07170	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	71	cd07163	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	60	cd06960	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	58	cd06957	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	57	cd07165	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	57	cd06963	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	57	cd06958	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	60	cd07167	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	57	cd07155	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	65	cd07179	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	60	cd07161	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	59	cd07156	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	75	cd06916	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	58	cd07158	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	59	cd07154	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	59	cd07162	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	57	cd07164	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	65	cd06955	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	69	cd07157	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	60	cd06969	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	64	cd06968	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	59	cd06966	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	59	cd06956	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	63	pfam00105	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	79	cd07160	7657395,NP_055064
10002	8928275	Disease	p.Arg104Trp	VAR_010026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010026	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	70	cd07172	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	77	cd06962	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	80	cd07171	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	80	cd07166	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	80	cd07173	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	79	cd06967	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	79	cd06965	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	81	cd06961	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	80	cd06964	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	83	cd07168	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	83	cd06970	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	82	cd07169	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	80	cd07170	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	88	cd07163	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	77	cd06960	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	75	cd06957	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	74	cd07165	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	77	cd07167	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	74	cd07155	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	77	cd07161	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	77	cd07162	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	74	cd07164	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	84	cd06955	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	87	cd07157	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	81	cd06968	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	76	cd06966	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	76	cd06956	7657395,NP_055064
10002	8928275	Disease	p.Glu121Lys	VAR_010027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010027	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	96	cd07160	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	63	cd06938	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	38	cd07349	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	47	cd06947	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	58	cd07070	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	48	cd06950	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	17	cd06157	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	48	cd06953	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	58	cd06949	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	60	cd06943	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	11	smart00430	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	60	cd07071	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	164	cd06932	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	85	cd07068	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	85	cd06946	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	18	cd06930	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	41	cd07350	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	39	cd06951	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	60	cd06944	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	59	cd07069	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	60	cd07348	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	63	cd07072	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	89	cd06945	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	54	cd06931	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	40	cd06952	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	21	cd06929	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	50	cd06948	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	60	cd06937	7657395,NP_055064
10002	8928275	Disease	p.Trp234Ser	VAR_010031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010031	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	55	cd06936	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	85	cd06938	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	60	cd07349	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	69	cd06947	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	80	cd07070	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	70	cd06950	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	42	cd06157	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	70	cd06953	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	80	cd06949	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	84	cd06943	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	172	smart00430	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	82	cd07071	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	186	cd06932	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	107	cd07068	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	107	cd06946	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	40	cd06930	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	63	cd07350	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	61	cd06951	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	82	cd06944	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	81	cd07069	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	82	cd07348	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	85	cd07072	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	111	cd06945	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	76	cd06931	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	62	cd06952	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	44	cd06929	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	9	pfam00104	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	72	cd06948	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	82	cd06937	7657395,NP_055064
10002	8928275	Disease	p.Ala256Glu	VAR_020840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020840	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	77	cd06936	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	92	cd06938	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	67	cd07349	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	76	cd06947	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	87	cd07070	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	77	cd06950	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	50	cd06157	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	77	cd06953	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	87	cd06949	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	90	cd06943	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	180	smart00430	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	89	cd07071	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	192_G	cd06932	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	114	cd07068	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	114	cd06946	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	47	cd06930	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	70	cd07350	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	68	cd06951	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	89	cd06944	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	88	cd07069	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	89	cd07348	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	92	cd07072	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	118	cd06945	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	83	cd06931	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	69	cd06952	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	53	cd06929	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	17	pfam00104	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	79	cd06948	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	89	cd06937	7657395,NP_055064
10002	8928275	Disease	p.Leu263Pro	VAR_020841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020841	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	84	cd06936	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	139	cd06938	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	124	cd07349	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	121	cd06947	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	136	cd07070	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	123	cd06950	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	120	cd06157	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	177	cd06953	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	141	cd06949	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	163	cd06943	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	682	smart00430	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	132	cd07071	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	238	cd06932	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	168	cd07068	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	159	cd06946	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	122	cd06930	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	144	cd07350	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	138	cd06951	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	139	cd06944	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	137	cd07069	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	132_G	cd07348	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	136	cd07072	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	165_G	cd06945	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	133	cd06931	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	121	cd06952	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	129	cd06929	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	151	pfam00104	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	133	cd06948	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	133	cd06937	7657395,NP_055064
10002	8928275	Disease	p.Arg309Gly	VAR_010033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010033	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	178	cd06936	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	141	cd06938	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	126	cd07349	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	124	cd06947	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	138	cd07070	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	125	cd06950	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	122	cd06157	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	179	cd06953	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	143	cd06949	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	165	cd06943	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	686	smart00430	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	134	cd07071	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	240	cd06932	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	170	cd07068	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	161	cd06946	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	124	cd06930	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	146	cd07350	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	140	cd06951	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	141	cd06944	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	139	cd07069	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	134	cd07348	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	137_G	cd07072	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	166	cd06945	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	135	cd06931	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	123	cd06952	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	131	cd06929	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	154	pfam00104	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	135	cd06948	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	135	cd06937	7657395,NP_055064
10002	8928275	Disease	p.Arg311Gln	VAR_010034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010034	rs28937873 Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	180	cd06936	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	166	cd06938	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	151	cd07349	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	150	cd06947	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	163	cd07070	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	169	cd06950	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	156	cd06157	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	207	cd06953	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	176	cd06949	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	190	cd06943	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	765	smart00430	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	158	cd07071	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	265	cd06932	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	195	cd07068	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	186	cd06946	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	179	cd06930	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	171	cd07350	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	165	cd06951	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	170	cd06944	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	164	cd07069	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	158	cd07348	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	161	cd07072	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	191	cd06945	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	160	cd06931	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	148	cd06952	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	162	cd06929	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	234	pfam00104	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	161	cd06948	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	160	cd06937	7657395,NP_055064
10002	8928275	Disease	p.Leu336Pro	VAR_020842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020842	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	205	cd06936	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	183	cd06938	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	168	cd07349	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	197	cd06947	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	180	cd07070	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	186	cd06950	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	173	cd06157	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	224	cd06953	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	194	cd06949	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	207	cd06943	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	803	smart00430	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	175	cd07071	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	282	cd06932	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	220	cd07068	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	203	cd06946	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	196	cd06930	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	188	cd07350	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	182	cd06951	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	187	cd06944	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	181	cd07069	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	175	cd07348	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	178	cd07072	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	208	cd06945	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	179	cd06931	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	169	cd06952	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	179	cd06929	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	259	pfam00104	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	178	cd06948	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	177	cd06937	7657395,NP_055064
10002	8928275	Disease	p.Leu353Val	VAR_020843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020843	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	222	cd06936	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	218	cd06938	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	200	cd07349	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	227	cd06947	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	212	cd07070	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	219	cd06950	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	271	cd06953	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	228	cd06949	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	239	cd06943	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	209	cd07071	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	314	cd06932	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	257	cd07068	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	238_G	cd06946	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	220	cd07350	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	214	cd06951	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	219	cd06944	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	213	cd07069	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	211	cd07348	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	213	cd07072	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	246	cd06945	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	211	cd06931	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	231	cd06952	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	234	cd06929	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	339	pfam00104	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	212	cd06948	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	209	cd06937	7657395,NP_055064
10002	8928275	Disease	p.Arg385Pro	VAR_010035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010035	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	254	cd06936	7657395,NP_055064
10002	8928275	Disease	p.Met407Lys	VAR_010036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010036	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	222	cd07349	7657395,NP_055064
10002	8928275	Disease	p.Met407Lys	VAR_010036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010036	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	320	cd06947	7657395,NP_055064
10002	8928275	Disease	p.Met407Lys	VAR_010036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010036	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	234	cd07070	7657395,NP_055064
10002	8928275	Disease	p.Met407Lys	VAR_010036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010036	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	250	cd06949	7657395,NP_055064
10002	8928275	Disease	p.Met407Lys	VAR_010036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010036	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	235	cd07071	7657395,NP_055064
10002	8928275	Disease	p.Met407Lys	VAR_010036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010036	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	279	cd07068	7657395,NP_055064
10002	8928275	Disease	p.Met407Lys	VAR_010036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010036	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	262	cd06946	7657395,NP_055064
10002	8928275	Disease	p.Met407Lys	VAR_010036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010036	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	241	cd06944	7657395,NP_055064
10002	8928275	Disease	p.Met407Lys	VAR_010036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010036	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	235	cd07069	7657395,NP_055064
10002	8928275	Disease	p.Met407Lys	VAR_010036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010036	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	237	cd07348	7657395,NP_055064
10002	8928275	Disease	p.Met407Lys	VAR_010036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010036	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	235	cd07072	7657395,NP_055064
10002	8928275	Disease	p.Met407Lys	VAR_010036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010036	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	268	cd06945	7657395,NP_055064
10002	8928275	Disease	p.Met407Lys	VAR_010036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010036	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	234	cd06948	7657395,NP_055064
10002	8928275	Disease	p.Met407Lys	VAR_010036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010036	- Enhanced S cone syndrome (ESCS) [MIM:268100]	SWISS	232	cd06937	7657395,NP_055064
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	63	cd07166	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	59	cd07162	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	58	cd06959	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	62	cd06965	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	125	smart00399	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	71	cd07163	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	64	cd06961	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	65	cd06955	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	66	cd06970	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	65	cd07169	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	66	cd07168	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	62	cd07173	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	63	cd07171	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	62	cd06967	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	59	cd06956	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	69	cd07157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	59	cd06966	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	63	cd06964	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	63	pfam00105	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	60	cd06969	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	60	cd06962	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	60	cd07161	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	79	cd07160	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	70	cd07172	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	57	cd07155	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	58	cd06957	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	57	cd07164	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	57	cd07165	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	58	cd07158	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	59	cd07156	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	59	cd07154	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	75	cd06916	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	65	cd07179	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	60	cd06960	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	64	cd06968	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	57	cd06963	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	57	cd06958	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	60	cd07167	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Arg477His	VAR_013472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013472	- Glucocorticoid resistance [MIM:138040]	SWISS	63	cd07170	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	VAR_015632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015632	- Glucocorticoid resistance [MIM:138040]	SWISS	6	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	VAR_015632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015632	- Glucocorticoid resistance [MIM:138040]	SWISS	67	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	VAR_015632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015632	- Glucocorticoid resistance [MIM:138040]	SWISS	67	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	VAR_015632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015632	- Glucocorticoid resistance [MIM:138040]	SWISS	42	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	VAR_015632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015632	- Glucocorticoid resistance [MIM:138040]	SWISS	34	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	VAR_015632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015632	- Glucocorticoid resistance [MIM:138040]	SWISS	29	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	VAR_015632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015632	- Glucocorticoid resistance [MIM:138040]	SWISS	29	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	VAR_015632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015632	- Glucocorticoid resistance [MIM:138040]	SWISS	29	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	VAR_015632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015632	- Glucocorticoid resistance [MIM:138040]	SWISS	29	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	VAR_015632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015632	- Glucocorticoid resistance [MIM:138040]	SWISS	29	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	VAR_015632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015632	- Glucocorticoid resistance [MIM:138040]	SWISS	40	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile559Asn	VAR_015632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015632	- Glucocorticoid resistance [MIM:138040]	SWISS	39	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	VAR_004676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004676	- Glucocorticoid resistance [MIM:138040]	SWISS	118	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	VAR_004676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004676	- Glucocorticoid resistance [MIM:138040]	SWISS	652	smart00430	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	VAR_004676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004676	- Glucocorticoid resistance [MIM:138040]	SWISS	111	cd06930	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	VAR_004676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004676	- Glucocorticoid resistance [MIM:138040]	SWISS	157	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	VAR_004676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004676	- Glucocorticoid resistance [MIM:138040]	SWISS	148	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	VAR_004676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004676	- Glucocorticoid resistance [MIM:138040]	SWISS	154	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	VAR_004676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004676	- Glucocorticoid resistance [MIM:138040]	SWISS	118	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	VAR_004676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004676	- Glucocorticoid resistance [MIM:138040]	SWISS	109	cd06157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	VAR_004676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004676	- Glucocorticoid resistance [MIM:138040]	SWISS	111	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	VAR_004676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004676	- Glucocorticoid resistance [MIM:138040]	SWISS	111	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	VAR_004676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004676	- Glucocorticoid resistance [MIM:138040]	SWISS	111	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	VAR_004676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004676	- Glucocorticoid resistance [MIM:138040]	SWISS	111	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	VAR_004676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004676	- Glucocorticoid resistance [MIM:138040]	SWISS	111	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	VAR_004676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004676	- Glucocorticoid resistance [MIM:138040]	SWISS	113	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	VAR_004676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004676	- Glucocorticoid resistance [MIM:138040]	SWISS	130	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Asp641Val	VAR_004676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004676	- Glucocorticoid resistance [MIM:138040]	SWISS	119	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	VAR_013473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013473	- Glucocorticoid resistance [MIM:138040]	SWISS	161	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	VAR_013473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013473	- Glucocorticoid resistance [MIM:138040]	SWISS	766	smart00430	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	VAR_013473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013473	- Glucocorticoid resistance [MIM:138040]	SWISS	178	cd06930	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	VAR_013473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013473	- Glucocorticoid resistance [MIM:138040]	SWISS	206	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	VAR_013473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013473	- Glucocorticoid resistance [MIM:138040]	SWISS	183	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	VAR_013473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013473	- Glucocorticoid resistance [MIM:138040]	SWISS	189	cd06943	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	VAR_013473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013473	- Glucocorticoid resistance [MIM:138040]	SWISS	159	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	VAR_013473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013473	- Glucocorticoid resistance [MIM:138040]	SWISS	155	cd06157	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	VAR_013473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013473	- Glucocorticoid resistance [MIM:138040]	SWISS	149	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	VAR_013473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013473	- Glucocorticoid resistance [MIM:138040]	SWISS	149	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	VAR_013473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013473	- Glucocorticoid resistance [MIM:138040]	SWISS	149	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	VAR_013473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013473	- Glucocorticoid resistance [MIM:138040]	SWISS	149	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	VAR_013473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013473	- Glucocorticoid resistance [MIM:138040]	SWISS	149	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	VAR_013473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013473	- Glucocorticoid resistance [MIM:138040]	SWISS	204	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	VAR_013473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013473	- Glucocorticoid resistance [MIM:138040]	SWISS	179	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Gly679Ser	VAR_013473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013473	- Glucocorticoid resistance [MIM:138040]	SWISS	169	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val729Ile	VAR_004677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004677	- Glucocorticoid resistance [MIM:138040]	SWISS	231	cd06929	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val729Ile	VAR_004677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004677	- Glucocorticoid resistance [MIM:138040]	SWISS	254	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val729Ile	VAR_004677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004677	- Glucocorticoid resistance [MIM:138040]	SWISS	237	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val729Ile	VAR_004677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004677	- Glucocorticoid resistance [MIM:138040]	SWISS	208	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val729Ile	VAR_004677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004677	- Glucocorticoid resistance [MIM:138040]	SWISS	199	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val729Ile	VAR_004677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004677	- Glucocorticoid resistance [MIM:138040]	SWISS	224	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val729Ile	VAR_004677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004677	- Glucocorticoid resistance [MIM:138040]	SWISS	224	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val729Ile	VAR_004677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004677	- Glucocorticoid resistance [MIM:138040]	SWISS	199	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val729Ile	VAR_004677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004677	- Glucocorticoid resistance [MIM:138040]	SWISS	199	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val729Ile	VAR_004677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004677	- Glucocorticoid resistance [MIM:138040]	SWISS	332	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val729Ile	VAR_004677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004677	- Glucocorticoid resistance [MIM:138040]	SWISS	225	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Val729Ile	VAR_004677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004677	- Glucocorticoid resistance [MIM:138040]	SWISS	216	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	VAR_015633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015633	- Glucocorticoid resistance [MIM:138040]	SWISS	272	cd07068	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	VAR_015633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015633	- Glucocorticoid resistance [MIM:138040]	SWISS	255	cd06946	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	VAR_015633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015633	- Glucocorticoid resistance [MIM:138040]	SWISS	228	cd06931	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	VAR_015633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015633	- Glucocorticoid resistance [MIM:138040]	SWISS	220	cd07073	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	VAR_015633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015633	- Glucocorticoid resistance [MIM:138040]	SWISS	299	cd06947	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	VAR_015633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015633	- Glucocorticoid resistance [MIM:138040]	SWISS	299	cd07075	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	VAR_015633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015633	- Glucocorticoid resistance [MIM:138040]	SWISS	217	cd07076	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	VAR_015633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015633	- Glucocorticoid resistance [MIM:138040]	SWISS	218	cd07074	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	VAR_015633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015633	- Glucocorticoid resistance [MIM:138040]	SWISS	369	pfam00104	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	VAR_015633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015633	- Glucocorticoid resistance [MIM:138040]	SWISS	243	cd06949	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
2908	121069	Disease	p.Ile747Met	VAR_015633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015633	- Glucocorticoid resistance [MIM:138040]	SWISS	230	cd06944	66528530,NP_001018084|66528611,NP_001018087|66528563,NP_001018085|4504133,NP_000167|66528586,NP_001018086
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	38	cd06968	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	34	cd07161	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	34	cd06962	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	36	cd07166	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	36	cd06967	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	36	cd07171	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	36	cd07173	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	51	cd07160	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	35	cd07172	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	39	cd07168	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	39	cd07169	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	39	cd06955	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	39	cd06970	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	37	cd07170	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	37	cd06964	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	33	pfam00105	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	33	cd06956	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	33	cd06969	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	33	cd06966	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	33	cd07157	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	40	cd07163	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	32	cd07162	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	32	cd06965	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	58	smart00399	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	32	cd06961	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	32	cd06959	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	31	cd06958	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	31	cd06963	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	31	cd07167	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	31	cd07164	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	31	cd07155	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	31	cd07179	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	31	cd06957	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	31	cd07165	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	31	cd06960	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	31	cd07156	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	31	cd07158	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	31	cd06916	NULL
4306	126885	Disease	p.Gly633Arg	VAR_031268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031268	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	31	cd07154	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	50	cd06968	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	46	cd07161	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	46	cd06962	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	49	cd07166	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	48	cd06967	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	49	cd07171	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	48	cd07173	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	65	cd07160	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	56	cd07172	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	52	cd07168	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	51	cd07169	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	51	cd06955	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	52	cd06970	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	49	cd07170	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	49	cd06964	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	49	pfam00105	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	45	cd06956	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	46	cd06969	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	45	cd06966	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	55	cd07157	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	57	cd07163	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	45	cd07162	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	48	cd06965	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	89	smart00399	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	50	cd06961	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	44	cd06959	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	43	cd06958	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	43	cd06963	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	46	cd07167	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	43	cd07164	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	43	cd07155	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	51	cd07179	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	44	cd06957	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	43	cd07165	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	46	cd06960	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	45	cd07156	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	44	cd07158	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	61	cd06916	NULL
4306	126885	Disease	p.Cys645Ser	VAR_031269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031269	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	45	cd07154	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	64	cd06968	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	60	cd07161	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	60	cd06962	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	63	cd07166	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	62	cd06967	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	63	cd07171	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	62	cd07173	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	79	cd07160	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	70	cd07172	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	66	cd07168	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	65	cd07169	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	65	cd06955	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	66	cd06970	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	63	cd07170	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	63	cd06964	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	63	pfam00105	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	59	cd06956	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	60	cd06969	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	59	cd06966	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	69	cd07157	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	71	cd07163	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	59	cd07162	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	62	cd06965	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	125	smart00399	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	64	cd06961	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	58	cd06959	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	57	cd06958	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	57	cd06963	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	60	cd07167	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	57	cd07164	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	57	cd07155	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	65	cd07179	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	58	cd06957	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	57	cd07165	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	60	cd06960	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	59	cd07156	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	58	cd07158	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	75	cd06916	NULL
4306	126885	Disease	p.Arg659Ser	VAR_031270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031270	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	59	cd07154	NULL
4306	126885	Disease	p.Pro759Ser	VAR_031271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031271	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	34	cd06931	NULL
4306	126885	Disease	p.Pro759Ser	VAR_031271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031271	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	65	cd06945	NULL
4306	126885	Disease	p.Pro759Ser	VAR_031271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031271	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	34	cd06949	NULL
4306	126885	Disease	p.Pro759Ser	VAR_031271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031271	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	23	cd06947	NULL
4306	126885	Disease	p.Pro759Ser	VAR_031271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031271	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	23	cd07074	NULL
4306	126885	Disease	p.Pro759Ser	VAR_031271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031271	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	23	cd07076	NULL
4306	126885	Disease	p.Pro759Ser	VAR_031271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031271	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	23	cd07075	NULL
4306	126885	Disease	p.Pro759Ser	VAR_031271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031271	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	23	cd07073	NULL
4306	126885	Disease	p.Pro759Ser	VAR_031271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031271	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	24	cd07068	NULL
4306	126885	Disease	p.Pro759Ser	VAR_031271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031271	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	36	cd06943	NULL
4306	126885	Disease	p.Pro759Ser	VAR_031271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031271	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	61	cd06946	NULL
4306	126885	Disease	p.Pro759Ser	VAR_031271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031271	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	24	cd06953	NULL
4306	126885	Disease	p.Leu769Pro	VAR_031272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031272	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	7	cd06929	NULL
4306	126885	Disease	p.Leu769Pro	VAR_031272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031272	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	7	cd06942	NULL
4306	126885	Disease	p.Leu769Pro	VAR_031272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031272	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	44	cd06931	NULL
4306	126885	Disease	p.Leu769Pro	VAR_031272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031272	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	75	cd06945	NULL
4306	126885	Disease	p.Leu769Pro	VAR_031272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031272	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	44	cd06949	NULL
4306	126885	Disease	p.Leu769Pro	VAR_031272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031272	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	33	cd06947	NULL
4306	126885	Disease	p.Leu769Pro	VAR_031272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031272	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	33	cd07074	NULL
4306	126885	Disease	p.Leu769Pro	VAR_031272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031272	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	33	cd07076	NULL
4306	126885	Disease	p.Leu769Pro	VAR_031272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031272	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	33	cd07075	NULL
4306	126885	Disease	p.Leu769Pro	VAR_031272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031272	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	3	cd06157	NULL
4306	126885	Disease	p.Leu769Pro	VAR_031272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031272	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	33	cd07073	NULL
4306	126885	Disease	p.Leu769Pro	VAR_031272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031272	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	71	cd07068	NULL
4306	126885	Disease	p.Leu769Pro	VAR_031272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031272	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	46	cd06943	NULL
4306	126885	Disease	p.Leu769Pro	VAR_031272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031272	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	71	cd06946	NULL
4306	126885	Disease	p.Leu769Pro	VAR_031272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031272	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	34	cd06953	NULL
4306	126885	Disease	p.Leu769Pro	VAR_031272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031272	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	4	cd06930	NULL
4306	126885	Disease	p.Asn770Lys	VAR_031273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031273	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	8	cd06929	NULL
4306	126885	Disease	p.Asn770Lys	VAR_031273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031273	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	8	cd06942	NULL
4306	126885	Disease	p.Asn770Lys	VAR_031273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031273	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	45	cd06931	NULL
4306	126885	Disease	p.Asn770Lys	VAR_031273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031273	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	76	cd06945	NULL
4306	126885	Disease	p.Asn770Lys	VAR_031273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031273	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	45	cd06949	NULL
4306	126885	Disease	p.Asn770Lys	VAR_031273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031273	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	34	cd06947	NULL
4306	126885	Disease	p.Asn770Lys	VAR_031273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031273	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	34	cd07074	NULL
4306	126885	Disease	p.Asn770Lys	VAR_031273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031273	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	34	cd07076	NULL
4306	126885	Disease	p.Asn770Lys	VAR_031273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031273	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	34	cd07075	NULL
4306	126885	Disease	p.Asn770Lys	VAR_031273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031273	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	4	cd06157	NULL
4306	126885	Disease	p.Asn770Lys	VAR_031273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031273	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	34	cd07073	NULL
4306	126885	Disease	p.Asn770Lys	VAR_031273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031273	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	72	cd07068	NULL
4306	126885	Disease	p.Asn770Lys	VAR_031273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031273	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	47	cd06943	NULL
4306	126885	Disease	p.Asn770Lys	VAR_031273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031273	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	72	cd06946	NULL
4306	126885	Disease	p.Asn770Lys	VAR_031273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031273	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	35	cd06953	NULL
4306	126885	Disease	p.Asn770Lys	VAR_031273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031273	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	5	cd06930	NULL
4306	126885	Disease	p.Gln776Arg	VAR_031274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031274	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	14	cd06929	NULL
4306	126885	Disease	p.Gln776Arg	VAR_031274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031274	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	14	cd06942	NULL
4306	126885	Disease	p.Gln776Arg	VAR_031274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031274	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	47	cd06931	NULL
4306	126885	Disease	p.Gln776Arg	VAR_031274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031274	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	82	cd06945	NULL
4306	126885	Disease	p.Gln776Arg	VAR_031274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031274	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	4	smart00430	NULL
4306	126885	Disease	p.Gln776Arg	VAR_031274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031274	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	51	cd06949	NULL
4306	126885	Disease	p.Gln776Arg	VAR_031274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031274	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	40	cd06947	NULL
4306	126885	Disease	p.Gln776Arg	VAR_031274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031274	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	40	cd07074	NULL
4306	126885	Disease	p.Gln776Arg	VAR_031274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031274	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	40	cd07076	NULL
4306	126885	Disease	p.Gln776Arg	VAR_031274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031274	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	40	cd07075	NULL
4306	126885	Disease	p.Gln776Arg	VAR_031274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031274	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	10	cd06157	NULL
4306	126885	Disease	p.Gln776Arg	VAR_031274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031274	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	40	cd07073	NULL
4306	126885	Disease	p.Gln776Arg	VAR_031274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031274	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	78	cd07068	NULL
4306	126885	Disease	p.Gln776Arg	VAR_031274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031274	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	53	cd06943	NULL
4306	126885	Disease	p.Gln776Arg	VAR_031274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031274	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	78	cd06946	NULL
4306	126885	Disease	p.Gln776Arg	VAR_031274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031274	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	41	cd06953	NULL
4306	126885	Disease	p.Gln776Arg	VAR_031274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031274	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	11	cd06930	NULL
4306	126885	Disease	p.Ser805Pro	VAR_031275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031275	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	44	cd06929	NULL
4306	126885	Disease	p.Ser805Pro	VAR_031275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031275	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	43	cd06942	NULL
4306	126885	Disease	p.Ser805Pro	VAR_031275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031275	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	76	cd06931	NULL
4306	126885	Disease	p.Ser805Pro	VAR_031275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031275	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	111	cd06945	NULL
4306	126885	Disease	p.Ser805Pro	VAR_031275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031275	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	172	smart00430	NULL
4306	126885	Disease	p.Ser805Pro	VAR_031275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031275	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	80	cd06949	NULL
4306	126885	Disease	p.Ser805Pro	VAR_031275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031275	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	69	cd06947	NULL
4306	126885	Disease	p.Ser805Pro	VAR_031275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031275	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	69	cd07074	NULL
4306	126885	Disease	p.Ser805Pro	VAR_031275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031275	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	69	cd07076	NULL
4306	126885	Disease	p.Ser805Pro	VAR_031275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031275	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	69	cd07075	NULL
4306	126885	Disease	p.Ser805Pro	VAR_031275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031275	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	42	cd06157	NULL
4306	126885	Disease	p.Ser805Pro	VAR_031275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031275	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	69	cd07073	NULL
4306	126885	Disease	p.Ser805Pro	VAR_031275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031275	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	107	cd07068	NULL
4306	126885	Disease	p.Ser805Pro	VAR_031275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031275	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	84	cd06943	NULL
4306	126885	Disease	p.Ser805Pro	VAR_031275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031275	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	107	cd06946	NULL
4306	126885	Disease	p.Ser805Pro	VAR_031275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031275	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	70	cd06953	NULL
4306	126885	Disease	p.Ser805Pro	VAR_031275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031275	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	9	pfam00104	NULL
4306	126885	Disease	p.Ser805Pro	VAR_031275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031275	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	40	cd06930	NULL
4306	126885	Disease	p.Ser815Arg	VAR_031276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031276	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	55	cd06929	NULL
4306	126885	Disease	p.Ser815Arg	VAR_031276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031276	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	53	cd06942	NULL
4306	126885	Disease	p.Ser815Arg	VAR_031276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031276	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	86	cd06931	NULL
4306	126885	Disease	p.Ser815Arg	VAR_031276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031276	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	121	cd06945	NULL
4306	126885	Disease	p.Ser815Arg	VAR_031276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031276	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	183	smart00430	NULL
4306	126885	Disease	p.Ser815Arg	VAR_031276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031276	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	90	cd06949	NULL
4306	126885	Disease	p.Ser815Arg	VAR_031276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031276	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	79	cd06947	NULL
4306	126885	Disease	p.Ser815Arg	VAR_031276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031276	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	79	cd07074	NULL
4306	126885	Disease	p.Ser815Arg	VAR_031276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031276	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	79	cd07076	NULL
4306	126885	Disease	p.Ser815Arg	VAR_031276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031276	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	79	cd07075	NULL
4306	126885	Disease	p.Ser815Arg	VAR_031276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031276	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	53	cd06157	NULL
4306	126885	Disease	p.Ser815Arg	VAR_031276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031276	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	79	cd07073	NULL
4306	126885	Disease	p.Ser815Arg	VAR_031276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031276	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	117	cd07068	NULL
4306	126885	Disease	p.Ser815Arg	VAR_031276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031276	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	94	cd06943	NULL
4306	126885	Disease	p.Ser815Arg	VAR_031276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031276	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	117	cd06946	NULL
4306	126885	Disease	p.Ser815Arg	VAR_031276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031276	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	83	cd06953	NULL
4306	126885	Disease	p.Ser815Arg	VAR_031276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031276	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	20	pfam00104	NULL
4306	126885	Disease	p.Ser815Arg	VAR_031276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031276	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	50	cd06930	NULL
4306	126885	Disease	p.Ser818Leu	VAR_031277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031277	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	58	cd06929	NULL
4306	126885	Disease	p.Ser818Leu	VAR_031277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031277	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	55	cd06942	NULL
4306	126885	Disease	p.Ser818Leu	VAR_031277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031277	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	89	cd06931	NULL
4306	126885	Disease	p.Ser818Leu	VAR_031277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031277	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	124	cd06945	NULL
4306	126885	Disease	p.Ser818Leu	VAR_031277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031277	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	191	smart00430	NULL
4306	126885	Disease	p.Ser818Leu	VAR_031277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031277	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	93	cd06949	NULL
4306	126885	Disease	p.Ser818Leu	VAR_031277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031277	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	82	cd06947	NULL
4306	126885	Disease	p.Ser818Leu	VAR_031277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031277	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	82	cd07074	NULL
4306	126885	Disease	p.Ser818Leu	VAR_031277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031277	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	82	cd07076	NULL
4306	126885	Disease	p.Ser818Leu	VAR_031277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031277	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	82	cd07075	NULL
4306	126885	Disease	p.Ser818Leu	VAR_031277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031277	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	56	cd06157	NULL
4306	126885	Disease	p.Ser818Leu	VAR_031277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031277	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	82	cd07073	NULL
4306	126885	Disease	p.Ser818Leu	VAR_031277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031277	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	120	cd07068	NULL
4306	126885	Disease	p.Ser818Leu	VAR_031277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031277	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	97	cd06943	NULL
4306	126885	Disease	p.Ser818Leu	VAR_031277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031277	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	120	cd06946	NULL
4306	126885	Disease	p.Ser818Leu	VAR_031277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031277	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	132	cd06953	NULL
4306	126885	Disease	p.Ser818Leu	VAR_031277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031277	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	23	pfam00104	NULL
4306	126885	Disease	p.Ser818Leu	VAR_031277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031277	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	53	cd06930	NULL
4306	126885	Disease	p.Leu924Pro	VAR_015627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015627	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	220	cd06929	NULL
4306	126885	Disease	p.Leu924Pro	VAR_015627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015627	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	182	cd06942	NULL
4306	126885	Disease	p.Leu924Pro	VAR_015627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015627	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	217	cd06931	NULL
4306	126885	Disease	p.Leu924Pro	VAR_015627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015627	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	229	cd06945	NULL
4306	126885	Disease	p.Leu924Pro	VAR_015627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015627	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	874	smart00430	NULL
4306	126885	Disease	p.Leu924Pro	VAR_015627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015627	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	214	cd06949	NULL
4306	126885	Disease	p.Leu924Pro	VAR_015627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015627	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	213	cd06947	NULL
4306	126885	Disease	p.Leu924Pro	VAR_015627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015627	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	188	cd07074	NULL
4306	126885	Disease	p.Leu924Pro	VAR_015627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015627	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	188	cd07076	NULL
4306	126885	Disease	p.Leu924Pro	VAR_015627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015627	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	213	cd07075	NULL
4306	126885	Disease	p.Leu924Pro	VAR_015627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015627	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	197	cd06157	NULL
4306	126885	Disease	p.Leu924Pro	VAR_015627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015627	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	188	cd07073	NULL
4306	126885	Disease	p.Leu924Pro	VAR_015627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015627	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	243	cd07068	NULL
4306	126885	Disease	p.Leu924Pro	VAR_015627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015627	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	225	cd06943	NULL
4306	126885	Disease	p.Leu924Pro	VAR_015627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015627	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	226	cd06946	NULL
4306	126885	Disease	p.Leu924Pro	VAR_015627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015627	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	257	cd06953	NULL
4306	126885	Disease	p.Leu924Pro	VAR_015627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015627	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	320	pfam00104	NULL
4306	126885	Disease	p.Leu924Pro	VAR_015627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015627	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	218	cd06930	NULL
4306	126885	Disease	p.Glu972Gly	VAR_031278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031278	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	317	cd06947	NULL
4306	126885	Disease	p.Glu972Gly	VAR_031278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031278	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	236	cd07074	NULL
4306	126885	Disease	p.Glu972Gly	VAR_031278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031278	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	235	cd07076	NULL
4306	126885	Disease	p.Glu972Gly	VAR_031278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031278	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	317	cd07075	NULL
4306	126885	Disease	p.Glu972Gly	VAR_031278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031278	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	238	cd07073	NULL
4306	126885	Disease	p.Leu979Pro	VAR_031279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031279	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	324	cd06947	NULL
4306	126885	Disease	p.Leu979Pro	VAR_031279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031279	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	243	cd07074	NULL
4306	126885	Disease	p.Leu979Pro	VAR_031279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031279	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	242	cd07076	NULL
4306	126885	Disease	p.Leu979Pro	VAR_031279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031279	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	324	cd07075	NULL
4306	126885	Disease	p.Leu979Pro	VAR_031279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031279	- Autosomal dominant pseudohypoaldosteronism type I (AD-PHA1) [MIM:177735]	SWISS	245	cd07073	NULL
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	5	cd06966	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	5	cd06956	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	5	cd06969	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	5	cd07157	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	5	pfam00105	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	9	cd06964	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	9	cd07170	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	3	cd07154	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	3	cd07158	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	3	cd07156	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	3	cd06916	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	3	cd07164	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	3	cd06963	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	3	cd06958	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	3	cd06957	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	3	cd07155	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	3	cd06960	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	3	cd07165	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	3	cd07179	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	3	cd07167	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	10	cd06968	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	7	cd07172	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	4	smart00399	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	4	cd06959	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	4	cd06965	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	4	cd07162	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	4	cd06961	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	8	cd07173	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	8	cd07171	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	8	cd06967	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	8	cd07166	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	23	cd07160	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	6	cd06962	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	6	cd07161	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	11	cd06970	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	11	cd07168	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	11	cd07169	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	11	cd06955	20070193,NP_004950
2516	3121738	Disease	p.Val15Met	VAR_063255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063255	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	12	cd07163	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	23	cd06966	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	23	cd06956	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	23	cd06969	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	23	cd07157	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	23	pfam00105	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	27	cd06964	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	27	cd07170	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	21	cd07154	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	21	cd07158	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	21	cd07156	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	21	cd06916	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	21	cd07164	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	21	cd06963	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	21	cd06958	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	21	cd06957	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	21	cd07155	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	21	cd06960	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	21	cd07165	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	21	cd07179	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	21	cd07167	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	28	cd06968	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	25	cd07172	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	30	smart00399	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	22	cd06959	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	22	cd06965	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	22	cd07162	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	22	cd06961	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	26	cd07173	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	26	cd07171	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	26	cd06967	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	26	cd07166	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	41	cd07160	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	24	cd06962	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	24	cd07161	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	29	cd06970	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	29	cd07168	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	29	cd07169	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	29	cd06955	20070193,NP_004950
2516	3121738	Disease	p.Cys33Ser	VAR_039106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039106	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	30	cd07163	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	25	cd06966	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	25	cd06956	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	25	cd06969	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	25	cd07157	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	25	pfam00105	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	29	cd06964	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	29	cd07170	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	23	cd07154	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	23	cd07158	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	23	cd07156	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	23	cd06916	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	23	cd07164	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	23	cd06963	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	23	cd06958	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	23	cd06957	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	23	cd07155	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	23	cd06960	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	23	cd07165	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	23	cd07179	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	23	cd07167	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	30	cd06968	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	27	cd07172	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	35	smart00399	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	24	cd06959	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	24	cd06965	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	24	cd07162	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	24	cd06961	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	28	cd07173	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	28	cd07171	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	28	cd06967	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	28	cd07166	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	43	cd07160	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	26	cd06962	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	26	cd07161	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	31	cd06970	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	31	cd07168	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	31	cd07169	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	31	cd06955	20070193,NP_004950
2516	3121738	Disease	p.Gly35Glu	VAR_004737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004737	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	32	cd07163	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	68	cd06966	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	68	cd06956	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	69	cd06969	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	78	cd07157	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	72	pfam00105	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	72	cd06964	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	72	cd07170	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	68	cd07154	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	67	cd07158	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	68	cd07156	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	84	cd06916	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	66	cd07164	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	66	cd06963	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	66	cd06958	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	67	cd06957	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	66	cd07155	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	69	cd06960	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	66	cd07165	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	74	cd07179	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	69	cd07167	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	73	cd06968	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	79	cd07172	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	135	smart00399	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	67	cd06959	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	71	cd06965	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	68	cd07162	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	73	cd06961	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	71	cd07173	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	72	cd07171	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	71	cd06967	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	72	cd07166	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	88	cd07160	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	69	cd06962	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	69	cd07161	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	75	cd06970	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	75	cd07168	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	74	cd07169	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	74	cd06955	20070193,NP_004950
2516	3121738	Disease	p.Met78Ile	VAR_063256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063256	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	80	cd07163	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	74	cd06966	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	74	cd06956	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	75	cd06969	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	84	cd07157	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	78	cd06964	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	78	cd07170	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	72	cd07164	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	72	cd06963	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	72	cd06958	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	73	cd06957	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	72	cd07155	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	75	cd06960	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	72	cd07165	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	80	cd07179	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	75	cd07167	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	79	cd06968	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	85	cd07172	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	77	cd06965	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	74	cd07162	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	79	cd06961	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	78	cd07173	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	78	cd07171	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	77	cd06967	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	78	cd07166	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	94	cd07160	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	75	cd06962	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	75	cd07161	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	81	cd06970	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	81	cd07168	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	80	cd07169	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	80	cd06955	20070193,NP_004950
2516	3121738	Disease	p.Arg84His	VAR_039107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039107	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	86	cd07163	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	VAR_063257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063257	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	79_G	cd06966	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	VAR_063257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063257	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	91	cd07157	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	VAR_063257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063257	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	85	cd07170	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	VAR_063257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063257	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	78	cd06957	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	VAR_063257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063257	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	79	cd07165	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	VAR_063257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063257	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	82	cd07167	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	VAR_063257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063257	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	86	cd06968	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	VAR_063257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063257	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	85	cd06965	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	VAR_063257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063257	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	81	cd07162	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	VAR_063257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063257	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	86	cd06961	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	VAR_063257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063257	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	84	cd06967	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	VAR_063257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063257	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	84	cd07166	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	VAR_063257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063257	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	101	cd07160	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	VAR_063257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063257	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	82	cd06962	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	VAR_063257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063257	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	82	cd07161	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	VAR_063257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063257	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	88	cd06970	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	VAR_063257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063257	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	88	cd07168	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	VAR_063257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063257	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	87	cd07169	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	VAR_063257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063257	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	87	cd06955	20070193,NP_004950
2516	3121738	Disease	p.Gly91Ser	VAR_063257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063257	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	91	cd07163	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	VAR_016982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016982	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	79_G	cd06966	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	VAR_016982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016982	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	92	cd07157	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	VAR_016982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016982	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	86	cd07170	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	VAR_016982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016982	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	79	cd06957	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	VAR_016982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016982	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	80	cd07165	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	VAR_016982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016982	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	83	cd07167	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	VAR_016982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016982	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	87	cd06968	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	VAR_016982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016982	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	86	cd06965	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	VAR_016982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016982	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	82	cd07162	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	VAR_016982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016982	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	87	cd06961	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	VAR_016982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016982	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	85	cd06967	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	VAR_016982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016982	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	85	cd07166	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	VAR_016982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016982	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	102	cd07160	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	VAR_016982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016982	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	83	cd06962	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	VAR_016982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016982	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	83	cd07161	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	VAR_016982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016982	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	89	cd06970	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	VAR_016982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016982	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	89	cd07168	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	VAR_016982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016982	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	88	cd07169	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	VAR_016982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016982	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	88	cd06955	20070193,NP_004950
2516	3121738	Disease	p.Arg92Gln	VAR_016982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016982	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	92	cd07163	20070193,NP_004950
2516	3121738	Disease	p.Gly123Ala	VAR_062967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062967	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	No Domain	N/A	20070193,NP_004950
2516	3121738	Disease	p.Pro129Leu	VAR_062968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062968	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	No Domain	N/A	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	VAR_016983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016983	- Adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]	SWISS	67	cd06945	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	VAR_016983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016983	- Adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]	SWISS	30	cd06931	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	VAR_016983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016983	- Adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]	SWISS	30_G	cd06948	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	VAR_016983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016983	- Adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]	SWISS	36	cd06943	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	VAR_016983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016983	- Adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]	SWISS	14	cd07349	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	VAR_016983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016983	- Adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]	SWISS	17	cd07350	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	VAR_016983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016983	- Adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]	SWISS	34	cd06949	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	VAR_016983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016983	- Adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]	SWISS	30	cd06950	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	VAR_016983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016983	- Adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]	SWISS	38	cd07068	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	VAR_016983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016983	- Adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]	SWISS	62	cd06946	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	VAR_016983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016983	- Adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]	SWISS	22	cd06947	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	VAR_016983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016983	- Adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]	SWISS	24	cd06953	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	VAR_016983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016983	- Adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]	SWISS	35	cd07069	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	VAR_016983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016983	- Adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]	SWISS	33	cd06944	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	VAR_016983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016983	- Adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]	SWISS	33	cd07070	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	VAR_016983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016983	- Adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]	SWISS	39	cd06938	20070193,NP_004950
2516	3121738	Disease	p.Arg255Leu	VAR_016983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016983	- Adrenocortical insufficiency without ovarian defect (ACIWOD) [MIM:184757]	SWISS	14	cd06951	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	103	cd06945	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	34	cd06157	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	68	cd06931	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	32	cd06930	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	35	smart00430	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	64	cd06948	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	76	cd06943	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	52	cd07349	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	55	cd07350	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	72	cd06949	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	36	cd06929	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	62	cd06950	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	99	cd07068	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	99	cd06946	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	61	cd06947	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	54	cd06952	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	62	cd06953	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	73	cd07069	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	74	cd06944	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	72	cd07070	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	77	cd06938	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	53	cd06951	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	103	cd06945	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	34	cd06157	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	68	cd06931	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	32	cd06930	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	35	smart00430	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	64	cd06948	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	76	cd06943	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	52	cd07349	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	55	cd07350	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	72	cd06949	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	36	cd06929	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	62	cd06950	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	99	cd07068	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	99	cd06946	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	61	cd06947	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	54	cd06952	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	62	cd06953	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	73	cd07069	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	74	cd06944	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	72	cd07070	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	77	cd06938	20070193,NP_004950
2516	3121738	Disease	p.Asp293Asn	VAR_062970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062970	- Premature ovarian failure type 7 (POF7) [MIM:612964]	SWISS	53	cd06951	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	VAR_063258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063258	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	251	cd06945	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	VAR_063258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063258	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	215	cd06931	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	VAR_063258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063258	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	216	cd06948	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	VAR_063258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063258	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	243	cd06943	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	VAR_063258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063258	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	204	cd07349	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	VAR_063258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063258	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	224	cd07350	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	VAR_063258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063258	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	232	cd06949	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	VAR_063258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063258	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	224	cd06950	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	VAR_063258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063258	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	261	cd07068	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	VAR_063258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063258	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	244	cd06946	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	VAR_063258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063258	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	325	cd06947	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	VAR_063258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063258	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	235	cd06952	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	VAR_063258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063258	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	282	cd06953	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	VAR_063258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063258	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	344	pfam00104	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	VAR_063258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063258	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	217	cd07069	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	VAR_063258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063258	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	223	cd06944	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	VAR_063258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063258	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	216	cd07070	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	VAR_063258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063258	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	222	cd06938	20070193,NP_004950
2516	3121738	Disease	p.Leu437Gln	VAR_063258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063258	- 46,XY disorder of sex development (46,XY) [MIM:612965]	SWISS	218	cd06951	20070193,NP_004950
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	76	smart00174	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	114	cd00880	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	296	cd00882	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	50	cd04109	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	48	cd04142	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	50	cd04132	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	75	cd04148	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	49	cd04143	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	55	cd04111	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	106	cd04107	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	78	cd04119	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	50	cd04115	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	54	cd04110	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	49	cd04124	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	70	cd04139	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	68	smart00175	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	48	smart00173	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	50	cd04122	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	51	cd01869	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	119	cd00157	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	49	cd04118	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	135	cd04112	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	183	cd00154	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	47	cd04135	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	50	cd04106	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	48	cd04117	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	58	cd01863	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	51	cd01861	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	47	cd04130	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	98	cd01864	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	46	cd04103	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	52	cd04113	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	53	cd04116	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	52	cd04101	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	58	cd04123	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	55	cd01868	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	49	cd01862	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	73	cd04125	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	48	cd04108	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	48	cd04120	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	54	cd00877	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	52	cd01866	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	162	COG1100	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	55	cd04114	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	90	smart00010	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	50	cd01875	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	48	cd01874	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	48	cd01871	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	48	cd04129	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	54	cd04137	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	48	cd04177	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	49	cd01865	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	48	cd04175	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	48	cd04131	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	48	cd04138	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	93	cd01860	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	49	cd04140	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	48	cd01870	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	48	cd04176	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	48	cd04136	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	50	cd04133	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	43	smart00176	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	66	cd01873	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	49	cd04141	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	51	cd01867	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	49	cd04145	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	46	cd04144	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	48	cd04134	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	92	cd04146	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	62	pfam00071	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	52	cd04127	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	50	cd00876	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	50	cd01893	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	61	pfam08477	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	111	cd00878	4505451,NP_002515
4893	131883	Disease	p.Thr50Ile	VAR_063085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063085	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	47	cd04147	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	86	smart00174	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	124	cd00880	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	306	cd00882	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	60	cd04109	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	58	cd04142	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	60	cd04132	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	84	cd04148	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	59	cd04143	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	65	cd04111	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	116	cd04107	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	88	cd04119	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	60	cd04115	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	64	cd04110	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	59	cd04124	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	80	cd04139	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	79	smart00175	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	58	smart00173	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	60	cd04122	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	61	cd01869	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	129	cd00157	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	59	cd04118	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	145	cd04112	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	193	cd00154	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	57	cd04135	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	60	cd04106	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	58	cd04117	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	68	cd01863	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	61	cd01861	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	57	cd04130	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	108	cd01864	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	56	cd04103	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	62	cd04113	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	63	cd04116	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	62	cd04101	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	68	cd04123	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	65	cd01868	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	59	cd01862	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	83	cd04125	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	58	cd04108	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	58	cd04120	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	64	cd00877	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	62	cd01866	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	172	COG1100	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	65	cd04114	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	101	smart00010	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	60	cd01875	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	58	cd01874	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	58	cd01871	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	58	cd04129	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	64	cd04137	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	58	cd04177	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	59	cd01865	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	58	cd04175	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	58	cd04131	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	58	cd04138	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	103	cd01860	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	59	cd04140	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	58	cd01870	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	58	cd04176	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	58	cd04136	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	60	cd04133	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	53	smart00176	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	76	cd01873	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	59	cd04141	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	61	cd01867	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	59	cd04145	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	56	cd04144	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	58	cd04134	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	102	cd04146	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	72	pfam00071	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	72	cd04127	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	60	cd00876	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	60	cd01893	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	81	pfam08477	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	121	cd00878	4505451,NP_002515
4893	131883	Disease	p.Gly60Glu	VAR_063086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063086	- Noonan syndrome type 6 (NS6) [MIM:613224]	SWISS	57	cd04147	4505451,NP_002515
4901	1709348	Disease	p.Ser50Thr	VAR_009268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009268	- Retinitis pigmentosa type 27 (RP27) [MIM:162080]	SWISS	No Domain	N/A	5453802,NP_006168
4902	2501180	Disease	p.Ala96Ser	VAR_009498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009498	rs1801281 Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	4758826,NP_004549
64324	32469769	Disease	p.His1616Leu	VAR_015780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015780	- Sotos syndrome [MIM:117550]	SWISS	65	smart00249	19923586,NP_071900
64324	32469769	Disease	p.Leu1637Pro	VAR_015781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015781	- Sotos syndrome [MIM:117550]	SWISS	137	smart00249	19923586,NP_071900
64324	32469769	Disease	p.Cys1674Trp	VAR_015782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015782	- Sotos syndrome [MIM:117550]	SWISS	No Domain	N/A	19923586,NP_071900
64324	32469769	Disease	p.Ile1687Asn	VAR_015783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015783	- Sotos syndrome [MIM:117550]	SWISS	No Domain	N/A	19923586,NP_071900
64324	32469769	Disease	p.Gly1792Val	VAR_015784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015784	- Sotos syndrome [MIM:117550]	SWISS	104	cd05840	19923586,NP_071900
64324	32469769	Disease	p.Gly1792Val	VAR_015784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015784	- Sotos syndrome [MIM:117550]	SWISS	44	pfam00855	19923586,NP_071900
64324	32469769	Disease	p.Gly1792Val	VAR_015784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015784	- Sotos syndrome [MIM:117550]	SWISS	54	cd05162	19923586,NP_071900
64324	32469769	Disease	p.Gly1792Val	VAR_015784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015784	- Sotos syndrome [MIM:117550]	SWISS	109	smart00293	19923586,NP_071900
64324	32469769	Disease	p.Gly1792Val	VAR_015784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015784	- Sotos syndrome [MIM:117550]	SWISS	41	cd05838	19923586,NP_071900
64324	32469769	Disease	p.Gly1792Val	VAR_015784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015784	- Sotos syndrome [MIM:117550]	SWISS	38	cd05836	19923586,NP_071900
64324	32469769	Disease	p.Cys1925Arg	VAR_015785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015785	- Sotos syndrome [MIM:117550]	SWISS	56	smart00570	19923586,NP_071900
64324	32469769	Disease	p.Gly1955Asp	VAR_015786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015786	- Sotos syndrome [MIM:117550]	SWISS	18	smart00317	19923586,NP_071900
64324	32469769	Disease	p.Gly1955Asp	VAR_015786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015786	- Sotos syndrome [MIM:117550]	SWISS	3	pfam00856	19923586,NP_071900
64324	32469769	Disease	p.Arg1984Gln	VAR_015787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015787	- Sotos syndrome [MIM:117550]	SWISS	49	smart00317	19923586,NP_071900
64324	32469769	Disease	p.Arg1984Gln	VAR_015787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015787	- Sotos syndrome [MIM:117550]	SWISS	40	pfam00856	19923586,NP_071900
64324	32469769	Disease	p.Tyr1997Cys	VAR_015788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015788	- Weaver syndrome (WES) [MIM:277590]	SWISS	193	smart00317	19923586,NP_071900
64324	32469769	Disease	p.Tyr1997Cys	VAR_015788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015788	- Weaver syndrome (WES) [MIM:277590]	SWISS	396	pfam00856	19923586,NP_071900
64324	32469769	Disease	p.Arg2005Gln	VAR_015789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015789	- Sotos syndrome [MIM:117550]	SWISS	220	smart00317	19923586,NP_071900
64324	32469769	Disease	p.Arg2005Gln	VAR_015789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015789	- Sotos syndrome [MIM:117550]	SWISS	404	pfam00856	19923586,NP_071900
64324	32469769	Disease	p.Arg2017Gln	VAR_015790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015790	- Sotos syndrome [MIM:117550]	SWISS	240	smart00317	19923586,NP_071900
64324	32469769	Disease	p.Arg2017Gln	VAR_015790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015790	- Sotos syndrome [MIM:117550]	SWISS	416	pfam00856	19923586,NP_071900
64324	32469769	Disease	p.Arg2017Trp	VAR_015791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015791	- Sotos syndrome [MIM:117550]	SWISS	240	smart00317	19923586,NP_071900
64324	32469769	Disease	p.Arg2017Trp	VAR_015791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015791	- Sotos syndrome [MIM:117550]	SWISS	416	pfam00856	19923586,NP_071900
64324	32469769	Disease	p.His2143Gln	VAR_015792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015792	- Weaver syndrome (WES) [MIM:277590]	SWISS	65	smart00249	19923586,NP_071900
64324	32469769	Disease	p.Cys2183Ser	VAR_015793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015793	- Weaver syndrome (WES) [MIM:277590]	SWISS	No Domain	N/A	19923586,NP_071900
50814	8488997	Disease	p.Ala105Val	VAR_010207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010207	- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]	SWISS	128	pfam07993	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala105Val	VAR_010207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010207	- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]	SWISS	157	COG0451	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala105Val	VAR_010207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010207	- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]	SWISS	87	COG1087	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala105Val	VAR_010207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010207	- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]	SWISS	92	pfam02719	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala105Val	VAR_010207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010207	- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]	SWISS	107	pfam01370	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Ala105Val	VAR_010207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010207	- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]	SWISS	85	pfam01073	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Gly205Ser	VAR_010208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010208	- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]	SWISS	324	pfam07993	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Gly205Ser	VAR_010208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010208	- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]	SWISS	344	COG0451	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Gly205Ser	VAR_010208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010208	- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]	SWISS	210	COG1087	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Gly205Ser	VAR_010208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010208	- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]	SWISS	194	pfam02719	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Gly205Ser	VAR_010208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010208	- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]	SWISS	272	pfam01370	193211614,NP_001123237|8393516,NP_057006
50814	8488997	Disease	p.Gly205Ser	VAR_010208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010208	- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]	SWISS	202	pfam01073	193211614,NP_001123237|8393516,NP_057006
51251	117949804	Disease	p.Asp137Val	VAR_023511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023511	- P5N deficiency (P5ND) [MIM:266120]	SWISS	49	pfam05822	70608082,NP_001002010
51251	117949804	Disease	p.Leu181Pro	VAR_023512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023512	- P5N deficiency (P5ND) [MIM:266120]	SWISS	93	pfam05822	70608082,NP_001002010
51251	117949804	Disease	p.Asn229Ser	VAR_023513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023513	- P5N deficiency (P5ND) [MIM:266120]	SWISS	142	pfam05822	70608082,NP_001002010
51251	117949804	Disease	p.Gly280Arg	VAR_023514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023514	- P5N deficiency (P5ND) [MIM:266120]	SWISS	207	pfam05822	70608082,NP_001002010
4914	94730402	Disease	p.Leu93Pro	VAR_009624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009624	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	No Domain	N/A	4585712,NP_002520
4914	94730402	Disease	p.Leu213Pro	VAR_009625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009625	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	21	pfam07679	4585712,NP_002520
4914	94730402	Disease	p.Leu213Pro	VAR_009625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009625	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	22	cd04972	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd05578	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	20	cd05071	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	21	cd07852	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	20	cd05062	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	22	cd05032	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	20	cd05036	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	20	cd05061	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	20	cd05034	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	20	cd05083	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	20	cd05082	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	20	cd05072	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	20	cd05069	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	20	cd05068	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	20	cd05070	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	20	cd05039	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	20	cd05073	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	20	cd05067	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	20	cd05056	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	20	cd05052	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	26	cd07865	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	3	smart00220	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	35	cd06659	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	29	cd05101	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	18	cd06642	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	17	cd06613	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	18	cd06640	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	18	cd06641	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	15	cd07847	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	21	cd07845	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	26	cd05076	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	16	cd06653	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	15	cd06629	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	16	cd06651	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	16	cd06625	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	10	cd05582	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	22	cd06624	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd06620	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	23	cd06645	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	23	cd06646	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	32	cd05057	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd05096	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd05046	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd05049	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd05092	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	27	cd05051	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd05095	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd05050	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd05097	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd05094	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd05093	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd05091	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd05090	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd05048	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd05064	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd05063	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd07844	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd07871	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd07870	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	9	cd05058	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd07832	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	9	cd05047	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	9	cd05044	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd08221	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	9	cd05085	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	9	cd05619	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	7	cd05577	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	7	cd05579	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	7	cd05572	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	7	cd05123	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	9	cd05570	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	10	cd00180	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd06643	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	21	cd05108	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	21	cd05110	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	26	cd06644	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	21	cd05109	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	21	cd05111	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	21	cd05088	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	21	cd05103	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	21	cd05102	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	21	cd05054	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	13	cd07835	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	13	cd07830	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	34	cd06614	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	26	cd05053	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	18	cd05113	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	18	cd05114	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	18	cd05112	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	18	cd05059	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	18	cd05080	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	18	cd06616	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	18	cd05081	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	18	cd05065	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd05038	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	18	cd05033	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	18	cd05079	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	18	cd05066	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	21	cd05043	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	51	cd05105	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	9	cd05037	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	9	cd00192	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	9	cd05116	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	9	cd05060	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	9	cd05042	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	9	cd05041	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	9	cd05040	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	33	cd06647	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	33	cd06648	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	32	cd05098	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	16	cd08228	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	15	cd06615	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	15	cd07862	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	15	cd06622	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	15	cd06610	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	15	cd06617	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd08218	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	16	cd08229	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd08225	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd08219	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	15	cd05580	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	15	cd06605	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	16	cd05089	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	57	COG0515	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	15	cd05612	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	20	cd06623	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	15	cd06621	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	15	cd07841	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	22	cd05581	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd08530	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	20	cd06608	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	15	cd06917	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd06630	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	15	cd06626	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd08220	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd06632	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd06628	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	15	cd07846	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd06631	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd07839	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	21	cd06606	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	19	cd06611	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	9	cd05078	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	9	cd05077	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	9	cd05115	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	17	cd07840	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	9	cd05086	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	9	cd05087	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	9	cd05084	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	15	cd07842	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	13	cd07838	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	20	cd07843	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	15	cd07833	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd07829	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	13	cd05118	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	51	cd05107	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	51	cd05055	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	21	cd07864	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	23	cd07866	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	32	cd06638	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	26	cd05100	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	26	cd05099	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	15	cd07837	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd08223	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd08222	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd08215	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd08528	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd05605	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	16	cd07834	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd05583	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd08529	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	15	cd06627	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	17	cd06612	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	21	cd05122	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd07861	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	16	cd06609	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd08217	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd07836	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	13	cd07831	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd05045	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	13	cd05035	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	13	cd05075	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	13	cd05074	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	13	smart00221	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd07860	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	13	smart00219	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	17	pfam07714	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	13	pfam00069	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	29	cd06634	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	29	cd06618	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	16	cd08224	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	20	cd05148	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	16	cd06652	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	14	cd07863	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	29	cd06607	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	52	cd05106	4585712,NP_002520
4914	94730402	Disease	p.Gly522Arg	VAR_009626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009626	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	49	cd05104	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	67	cd05578	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	68	cd05071	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	75	cd07852	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd05062	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	107	cd05032	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd05036	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd05061	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	68	cd05034	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	66	cd05083	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	66	cd05082	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	68	cd05072	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	68	cd05069	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	68	cd05068	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	68	cd05070	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	70	cd05039	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	68	cd05073	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	68	cd05067	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	103	cd05056	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	69	cd05052	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	79	cd07865	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	202	smart00220	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	85	cd06659	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	88	cd05101	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	69	cd06642	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	69	cd06613	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	69	cd06640	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	69	cd06641	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	67	cd07847	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	73	cd07845	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	83	cd05076	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	71	cd06653	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	75	cd06629	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	71	cd06651	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	71	cd06625	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	66	cd05582	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	72	cd06624	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	70	cd06620	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	73	cd06645	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	73	cd06646	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	125	cd05057	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	86	cd05096	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	135	cd05046	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	75	cd05049	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	74	cd05092	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	108	cd05051	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	89	cd05095	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	75	cd05050	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	86	cd05097	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	74	cd05094	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	74	cd05093	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	75	cd05091	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	74	cd05090	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd05048	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	73	cd05064	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	74	cd05063	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	70	cd07844	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	70	cd07871	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	70	cd07870	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	70	cd05058	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	73	cd07832	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	63	cd05047	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	66	cd05044	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	66	cd08221	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	60	cd05085	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	63	cd05619	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	66	cd05577	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	62	cd05579	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	109	cd05572	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	101	cd05123	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	64_G	cd05570	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	179	cd00180	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	69	cd06643	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd05108	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd05110	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd06644	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd05109	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd05111	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	75	cd05088	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	78	cd05103	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	78	cd05102	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	78	cd05054	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	72	cd07835	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	100	cd07830	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	95	cd06614	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	85	cd05053	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	66	cd05113	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	66	cd05114	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	66	cd05112	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	66	cd05059	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	73	cd05080	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	77	cd06616	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	72	cd05081	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	72	cd05065	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	77	cd05038	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	96	cd05033	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	73	cd05079	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	72	cd05066	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	90	cd05043	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	108	cd05105	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	83	cd05037	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	118	cd00192	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	63	cd05116	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	68	cd05060	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	65	cd05042	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	61	cd05041	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	66	cd05040	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	83	cd06647	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	83	cd06648	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	91	cd05098	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	69	cd08228	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	66	cd06615	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	71	cd07862	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	66	cd06622	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	68	cd06610	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	67	cd06617	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	66	cd08218	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	69	cd08229	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	66	cd08225	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	65	cd08219	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	116	cd05580	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	68	cd06605	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	70	cd05089	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	367	COG0515	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	68	cd05612	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	86	cd06623	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	69	cd06621	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	81	cd07841	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	119	cd05581	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	67	cd08530	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	95	cd06608	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	75	cd06917	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	70	cd06630	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	69	cd06626	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	68	cd08220	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd06632	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	75	cd06628	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	68	cd07846	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	69	cd06631	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	66	cd07839	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	131	cd06606	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	71	cd06611	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	66	cd05078	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	71	cd05077	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	62	cd05115	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	93	cd07840	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	62	cd05086	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	62	cd05087	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	60	cd05084	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	161	cd07842	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	74	cd07838	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd07843	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	88	cd07833	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	75	cd07829	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	69	cd05118	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	108	cd05107	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	108	cd05055	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	73	cd07864	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	75	cd07866	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	82	cd06638	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	85	cd05100	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	85	cd05099	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	68	cd07837	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	66	cd08223	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	70	cd08222	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	85	cd08215	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	85	cd08528	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	67	cd05605	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	96	cd07834	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	73	cd05583	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	70	cd08529	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	71	cd06627	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	77	cd06612	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	83	cd05122	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	67	cd07861	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	80	cd06609	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	66	cd08217	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	65	cd07836	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	65	cd07831	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	70	cd05045	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	78	cd05035	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	67	cd05075	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	68	cd05074	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	299	smart00221	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	66	cd07860	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	221	smart00219	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	102	pfam07714	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	103	pfam00069	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	82	cd06634	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	81	cd06618	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	70	cd08224	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	70	cd05148	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	71	cd06652	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	72	cd07863	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	82	cd06607	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	110	cd05106	4585712,NP_002520
4914	94730402	Disease	p.Gly577Arg	VAR_004103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004103	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	106	cd05104	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	77	cd05578	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	77	cd05071	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	87	cd07852	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	86	cd05062	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	119	cd05032	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	86	cd05036	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	86	cd05061	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	78	cd05034	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	75	cd05083	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	77	cd05082	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	78	cd05072	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	77	cd05069	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	78	cd05068	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	77	cd05070	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	81	cd05039	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	78	cd05073	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	77	cd05067	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	112	cd05056	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	79	cd05052	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	101	cd07865	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	300	smart00220	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	95	cd06659	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	98	cd05101	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	79	cd06642	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	79	cd06613	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	79	cd06640	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	79	cd06641	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	77	cd07847	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	85	cd07845	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	93	cd05076	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	83	cd06653	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	84	cd06629	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	83	cd06651	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	83	cd06625	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	75	cd05582	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	87	cd06624	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	82	cd06620	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	83	cd06645	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	83	cd06646	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	135	cd05057	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	96	cd05096	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	145	cd05046	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	87	cd05049	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	84	cd05092	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	119	cd05051	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	99	cd05095	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	85	cd05050	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	96	cd05097	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	84	cd05094	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	84	cd05093	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	85	cd05091	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	84	cd05090	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	86	cd05048	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	83	cd05064	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	84	cd05063	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	80	cd07844	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	80	cd07871	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	80	cd07870	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	81	cd05058	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	89	cd07832	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	73	cd05047	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd05044	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd08221	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	70	cd05085	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	73	cd05619	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	73	cd05577	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	72	cd05579	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	119	cd05572	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	111	cd05123	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	75	cd05570	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	244	cd00180	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	79	cd06643	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	85	cd05108	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	85	cd05110	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	86	cd06644	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	85	cd05109	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	85	cd05111	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	85	cd05088	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	89	cd05103	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	89	cd05102	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	89	cd05054	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	83	cd07835	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	117	cd07830	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	107	cd06614	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	95	cd05053	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd05113	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd05114	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd05112	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd05059	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	85	cd05080	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	87	cd06616	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	84	cd05081	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	82	cd05065	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	95	cd05038	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	106	cd05033	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	85	cd05079	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	82	cd05066	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	109	cd05043	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	118	cd05105	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	93	cd05037	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	139	cd00192	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	72	cd05116	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	77	cd05060	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	75	cd05042	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	71	cd05041	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	77	cd05040	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	93	cd06647	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	93	cd06648	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	101	cd05098	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	79	cd08228	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd06615	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	86	cd07862	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd06622	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	78	cd06610	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	77	cd06617	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd08218	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	79	cd08229	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd08225	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	75	cd08219	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	126	cd05580	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	81	cd06605	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	80	cd05089	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	425	COG0515	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	78	cd05612	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	101	cd06623	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	81	cd06621	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	92	cd07841	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	129	cd05581	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	79	cd08530	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	116	cd06608	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	85	cd06917	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	80	cd06630	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	78	cd06626	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	78	cd08220	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	96	cd06632	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	85	cd06628	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	78	cd07846	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	80	cd06631	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd07839	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	152	cd06606	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	81	cd06611	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd05078	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	81	cd05077	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	71	cd05115	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	120	cd07840	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	72	cd05086	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	72	cd05087	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	70	cd05084	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	173	cd07842	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	101	cd07838	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	91	cd07843	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	99	cd07833	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	104	cd07829	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	85	cd05118	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	118	cd05107	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	118	cd05055	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	94	cd07864	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	108	cd07866	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	97	cd06638	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	95	cd05100	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	95	cd05099	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	90	cd07837	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	77	cd08223	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	80	cd08222	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	103	cd08215	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	95	cd08528	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	77	cd05605	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	120	cd07834	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	82	cd05583	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	81	cd08529	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	82	cd06627	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	88	cd06612	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	101	cd05122	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	77	cd07861	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	92	cd06609	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	78	cd08217	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	75	cd07836	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	77	cd07831	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	80	cd05045	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	94	cd05035	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	83	cd05075	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	83	cd05074	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	369	smart00221	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	76	cd07860	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	241	smart00219	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	128	pfam07714	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	133	pfam00069	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	92	cd06634	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	91	cd06618	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	80	cd08224	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	80	cd05148	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	83	cd06652	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	87	cd07863	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	92	cd06607	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	120	cd05106	4585712,NP_002520
4914	94730402	Disease	p.Met587Val	VAR_009627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009627	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	116	cd05104	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	125	cd05578	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	126	cd05071	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	133	cd07852	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	143	cd05062	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	188	cd05032	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	142	cd05036	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	144	cd05061	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	127	cd05034	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	124	cd05083	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	126	cd05082	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	127	cd05072	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	126	cd05069	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	129	cd05068	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	126	cd05070	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd05039	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	127	cd05073	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	126	cd05067	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	160	cd05056	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	128	cd05052	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	148	cd07865	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	426	smart00220	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	141	cd06659	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	161	cd05101	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	125	cd06642	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	127	cd06613	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	125	cd06640	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	125	cd06641	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd07847	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	145	cd07845	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	141	cd05076	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd06653	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	134	cd06629	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd06651	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd06625	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	122	cd05582	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	137	cd06624	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd06620	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd06645	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd06646	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	186	cd05057	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	180	cd05096	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	210	cd05046	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	151	cd05049	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	146	cd05092	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	185	cd05051	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	165	cd05095	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	157	cd05050	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	155	cd05097	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	147	cd05094	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	144	cd05093	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	148	cd05091	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	148	cd05090	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	151	cd05048	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	131	cd05064	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	132	cd05063	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	128	cd07844	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	127	cd07871	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	127	cd07870	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	129	cd05058	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	139	cd07832	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	136	cd05047	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	134	cd05044	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	126	cd08221	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	118	cd05085	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	120	cd05619	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	124	cd05577	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	120	cd05579	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	192	cd05572	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	640	cd05123	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	122	cd05570	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	365	cd00180	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	127	cd06643	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	133	cd05108	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	133	cd05110	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	134	cd06644	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	133	cd05109	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	133	cd05111	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	148	cd05088	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	204	cd05103	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	202	cd05102	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	252	cd05054	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	150	cd07835	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	176	cd07830	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	176	cd06614	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	174	cd05053	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	125	cd05113	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	124	cd05114	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	124	cd05112	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	126	cd05059	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	131	cd05080	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	139	cd06616	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	132	cd05081	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd05065	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	152	cd05038	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	162	cd05033	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	133	cd05079	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd05066	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	166	cd05043	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	264	cd05105	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	143	cd05037	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	333	cd00192	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	119	cd05116	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	126	cd05060	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	127	cd05042	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	120	cd05041	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	128	cd05040	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	139	cd06647	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	140	cd06648	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	164	cd05098	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd08228	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	126	cd06615	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	134	cd07862	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	139	cd06622	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	136	cd06610	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	129	cd06617	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	125	cd08218	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd08229	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	125	cd08225	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	124	cd08219	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	178	cd05580	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	142	cd06605	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	143	cd05089	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	556	COG0515	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	125	cd05612	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	172	cd06623	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	134	cd06621	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	141	cd07841	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	240	cd05581	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd08530	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	167	cd06608	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	134	cd06917	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	127	cd06630	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	126	cd06626	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	134	cd08220	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	143	cd06632	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	132	cd06628	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	125	cd07846	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	128	cd06631	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	123	cd07839	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	205	cd06606	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	129	cd06611	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	126	cd05078	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	129	cd05077	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	119	cd05115	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	173	cd07840	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	124	cd05086	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	129	cd05087	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	118	cd05084	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	228	cd07842	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	150	cd07838	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	142	cd07843	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	146	cd07833	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	164	cd07829	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	133	cd05118	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	47	smart00750	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	266	cd05107	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	263	cd05055	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	142	cd07864	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	155	cd07866	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	148	cd06638	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	158	cd05100	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	158	cd05099	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	142	cd07837	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	126	cd08223	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	131	cd08222	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	167	cd08215	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	147	cd08528	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	126	cd05605	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	167	cd07834	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	129	cd05583	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd08529	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	131	cd06627	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	139	cd06612	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	158	cd05122	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	126	cd07861	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	147	cd06609	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	156	cd08217	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	127	cd07836	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	125	cd07831	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	151	cd05045	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	147	cd05035	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	151	cd05075	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	137	cd05074	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	536	smart00221	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	124	cd07860	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	421	smart00219	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	280	pfam07714	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	215	pfam00069	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	139	cd06634	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	143	cd06618	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	131	cd08224	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	129	cd05148	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	154	cd06652	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	135	cd07863	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	139	cd06607	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	246	cd05106	4585712,NP_002520
4914	94730402	Disease	p.Arg649Trp	VAR_009630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009630	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	248	cd05104	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd05578	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	131	cd05071	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	138	cd07852	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	148	cd05062	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	193	cd05032	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	147	cd05036	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	149	cd05061	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	132	cd05034	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	129	cd05083	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	131	cd05082	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	132	cd05072	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	131	cd05069	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	134	cd05068	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	131	cd05070	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	135	cd05039	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	132	cd05073	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	131	cd05067	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	165	cd05056	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	133	cd05052	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	153	cd07865	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	431	smart00220	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	146	cd06659	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	166	cd05101	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd06642	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	132	cd06613	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd06640	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd06641	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	135	cd07847	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	150	cd07845	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	146	cd05076	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	135	cd06653	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	139	cd06629	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	135	cd06651	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	135	cd06625	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	127	cd05582	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	142	cd06624	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	135	cd06620	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	135	cd06645	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	135	cd06646	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	191	cd05057	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	185	cd05096	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	215	cd05046	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	156	cd05049	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	151	cd05092	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	190	cd05051	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	170	cd05095	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	162	cd05050	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	160	cd05097	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	152	cd05094	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	149	cd05093	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	153	cd05091	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	153	cd05090	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	156	cd05048	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	136	cd05064	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	137	cd05063	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	133	cd07844	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	132	cd07871	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	132	cd07870	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	134	cd05058	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	144	cd07832	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	141	cd05047	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	139	cd05044	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	131	cd08221	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	123	cd05085	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	125	cd05619	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	129	cd05577	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	125	cd05579	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	197	cd05572	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	645	cd05123	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	127	cd05570	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	370	cd00180	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	132	cd06643	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	138	cd05108	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	138	cd05110	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	139	cd06644	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	138	cd05109	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	138	cd05111	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	153	cd05088	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	209	cd05103	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	207	cd05102	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	257	cd05054	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	155	cd07835	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	181	cd07830	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	181	cd06614	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	179	cd05053	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd05113	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	129	cd05114	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	129	cd05112	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	131	cd05059	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	136	cd05080	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	144	cd06616	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	137	cd05081	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	135	cd05065	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	157	cd05038	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	167	cd05033	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	138	cd05079	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	135	cd05066	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	171	cd05043	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	269	cd05105	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	148	cd05037	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	338	cd00192	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	124	cd05116	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	131	cd05060	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	132	cd05042	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	125	cd05041	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	133	cd05040	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	144	cd06647	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	145	cd06648	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	169	cd05098	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	135	cd08228	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	131	cd06615	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	139	cd07862	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	144	cd06622	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	141	cd06610	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	134	cd06617	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd08218	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	135	cd08229	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd08225	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	129	cd08219	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	183	cd05580	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	147	cd06605	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	148	cd05089	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	586	COG0515	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd05612	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	177	cd06623	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	139	cd06621	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	146	cd07841	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	245	cd05581	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	135	cd08530	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	172	cd06608	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	139	cd06917	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	132	cd06630	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	131	cd06626	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	139	cd08220	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	148	cd06632	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	137	cd06628	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd07846	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	133	cd06631	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	128	cd07839	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	210	cd06606	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	134	cd06611	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	131	cd05078	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	134	cd05077	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	124	cd05115	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	178	cd07840	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	129	cd05086	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	134	cd05087	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	123	cd05084	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	233	cd07842	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	155	cd07838	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	147	cd07843	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	151	cd07833	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	169	cd07829	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	138	cd05118	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	58	smart00750	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	271	cd05107	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	268	cd05055	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	147	cd07864	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	160	cd07866	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	153	cd06638	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	163	cd05100	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	163	cd05099	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	147	cd07837	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	131	cd08223	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	136	cd08222	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	172	cd08215	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	152	cd08528	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	131	cd05605	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	172	cd07834	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	134	cd05583	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	135	cd08529	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	136	cd06627	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	144	cd06612	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	163	cd05122	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	131	cd07861	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	152	cd06609	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	161	cd08217	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	132	cd07836	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	130	cd07831	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	156	cd05045	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	152	cd05035	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	156	cd05075	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	142	cd05074	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	541	smart00221	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	129	cd07860	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	426	smart00219	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	285	pfam07714	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	220	pfam00069	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	144	cd06634	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	148	cd06618	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	136	cd08224	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	134	cd05148	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	159	cd06652	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	140	cd07863	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	144	cd06607	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	251	cd05106	4585712,NP_002520
4914	94730402	Disease	p.Arg654Cys	VAR_009631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009631	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	253	cd05104	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	150	cd05578	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	151	cd05071	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	158	cd07852	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	168	cd05062	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	213	cd05032	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	170	cd05036	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	169	cd05061	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	156	cd05034	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	148_G	cd05083	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	151	cd05082	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	152	cd05072	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	151	cd05069	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	154	cd05068	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	151	cd05070	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	155	cd05039	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	152	cd05073	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	151	cd05067	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	185	cd05056	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	152_G	cd05052	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	172_G	cd07865	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	538	smart00220	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	166	cd06659	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	186	cd05101	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	150	cd06642	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	152	cd06613	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	150	cd06640	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	150	cd06641	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	155	cd07847	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	170	cd07845	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	173	cd05076	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	155	cd06653	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	162	cd06629	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	155	cd06651	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	155	cd06625	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	147	cd05582	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	163	cd06624	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	155	cd06620	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	155	cd06645	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	155	cd06646	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	211	cd05057	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	216	cd05096	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	235	cd05046	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	181	cd05049	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	171	cd05092	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	214	cd05051	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	190	cd05095	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	182	cd05050	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	180	cd05097	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	172	cd05094	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	169	cd05093	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	173	cd05091	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	173	cd05090	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	176	cd05048	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	157	cd05064	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	160	cd05063	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	155	cd07844	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	153	cd07871	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	154	cd07870	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	154	cd05058	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	168_G	cd07832	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	160_G	cd05047	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	166	cd05044	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	150_G	cd08221	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	143	cd05085	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	145	cd05619	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	149	cd05577	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	145	cd05579	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	217	cd05572	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	665	cd05123	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	146_G	cd05570	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	449	cd00180	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	152	cd06643	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	158	cd05108	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	158	cd05110	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	159	cd06644	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	160	cd05109	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	158	cd05111	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	172_G	cd05088	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	229	cd05103	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	227	cd05102	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	277	cd05054	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	176	cd07835	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	225	cd07830	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	201	cd06614	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	199	cd05053	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	150	cd05113	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	149	cd05114	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	148_G	cd05112	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	151	cd05059	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	156	cd05080	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	164	cd06616	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	157	cd05081	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	158	cd05065	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	181	cd05038	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	187	cd05033	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	158	cd05079	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	158	cd05066	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	194	cd05043	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	289	cd05105	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	176	cd05037	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	369	cd00192	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	144	cd05116	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	151	cd05060	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	152	cd05042	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	145	cd05041	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	157	cd05040	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	164	cd06647	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	165	cd06648	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	189	cd05098	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	154_G	cd08228	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	151	cd06615	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	158_G	cd07862	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	165	cd06622	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	161	cd06610	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	158	cd06617	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	150	cd08218	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	154_G	cd08229	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	151	cd08225	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	148_G	cd08219	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	203	cd05580	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	172	cd06605	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	167_G	cd05089	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	719	COG0515	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	150	cd05612	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	198	cd06623	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	163	cd06621	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	166	cd07841	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	265	cd05581	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	158	cd08530	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	192	cd06608	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	160	cd06917	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	153	cd06630	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	152	cd06626	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	160	cd08220	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	168	cd06632	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	157	cd06628	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	157	cd07846	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	153	cd06631	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	148	cd07839	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	239	cd06606	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	154	cd06611	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	159	cd05078	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	155	cd05077	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	144	cd05115	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	199	cd07840	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	149	cd05086	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	154	cd05087	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	143	cd05084	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	259	cd07842	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	175_G	cd07838	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	167_G	cd07843	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	181	cd07833	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	199	cd07829	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	158	cd05118	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	79	smart00750	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	291	cd05107	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	288	cd05055	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	166_G	cd07864	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	179_G	cd07866	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	173	cd06638	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	183	cd05100	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	183	cd05099	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	168	cd07837	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	151	cd08223	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	155	cd08222	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	209	cd08215	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	172	cd08528	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	151	cd05605	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	195	cd07834	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	154	cd05583	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	154_G	cd08529	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	159	cd06627	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	164	cd06612	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	184	cd05122	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	151	cd07861	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	173	cd06609	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	220	cd08217	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	152	cd07836	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	156	cd07831	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	176	cd05045	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	172	cd05035	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	176	cd05075	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	162	cd05074	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	630	smart00221	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	149	cd07860	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	462	smart00219	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	324	pfam07714	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	272	pfam00069	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	163	cd06634	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	169	cd06618	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	155_G	cd08224	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	158	cd05148	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	179	cd06652	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	159_G	cd07863	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	163	cd06607	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	271	cd05106	4585712,NP_002520
4914	94730402	Disease	p.Asp674Tyr	VAR_009632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009632	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	273	cd05104	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	174	cd05578	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	171	cd05071	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	196	cd07852	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	189	cd05062	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	234	cd05032	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	192	cd05036	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	190	cd05061	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	182	cd05034	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	165	cd05083	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	167	cd05082	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	172	cd05072	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	171	cd05069	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	177	cd05068	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	171	cd05070	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	174	cd05039	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	172	cd05073	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	171	cd05067	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	207	cd05056	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	173	cd05052	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	198	cd07865	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	708	smart00220	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	185	cd06659	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	207	cd05101	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	169	cd06642	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	171	cd06613	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	169	cd06640	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	169	cd06641	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	175	cd07847	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	191	cd07845	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	188	cd05076	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	177	cd06653	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	181	cd06629	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	177	cd06651	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	177	cd06625	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	166	cd05582	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	182	cd06624	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	172	cd06620	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	174	cd06645	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	174	cd06646	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	233	cd05057	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	237	cd05096	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	255	cd05046	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	202	cd05049	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	192	cd05092	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	240	cd05051	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	211	cd05095	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	203	cd05050	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	201	cd05097	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	200	cd05094	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	190	cd05093	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	194	cd05091	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	194	cd05090	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	197	cd05048	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	177	cd05064	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	179	cd05063	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	172	cd07844	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	171	cd07871	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	171	cd07870	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	177	cd05058	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	190	cd07832	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	179	cd05047	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	187	cd05044	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	172	cd08221	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	163	cd05085	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	164	cd05619	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	168	cd05577	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	711	cd05579	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	239	cd05572	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	737	cd05123	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	166	cd05570	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	628	cd00180	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	171	cd06643	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	179	cd05108	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	179	cd05110	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	178	cd06644	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	179	cd05109	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	179	cd05111	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	191	cd05088	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	250	cd05103	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	248	cd05102	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	299	cd05054	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	195	cd07835	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	243_G	cd07830	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	222	cd06614	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	220	cd05053	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	170	cd05113	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	169	cd05114	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	169	cd05112	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	171	cd05059	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	178	cd05080	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	182	cd06616	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	179	cd05081	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	179	cd05065	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	203	cd05038	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	213	cd05033	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	180	cd05079	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	177	cd05066	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	215	cd05043	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	310	cd05105	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	193	cd05037	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	399	cd00192	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	166	cd05116	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	173	cd05060	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	174	cd05042	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	166	cd05041	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	181	cd05040	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	183	cd06647	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	184	cd06648	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	210	cd05098	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	174	cd08228	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	168	cd06615	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	178	cd07862	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	188	cd06622	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	190	cd06610	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	172	cd06617	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	169	cd08218	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	174	cd08229	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	170	cd08225	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	168	cd08219	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	229	cd05580	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	187	cd06605	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	186	cd05089	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	805	COG0515	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	166	cd05612	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	222	cd06623	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	177	cd06621	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	205	cd07841	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	405	cd05581	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	176	cd08530	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	211	cd06608	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	181	cd06917	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	177	cd06630	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	203	cd06626	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	178	cd08220	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	190	cd06632	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	184	cd06628	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	204	cd07846	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	178	cd06631	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	167	cd07839	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	284	cd06606	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	173	cd06611	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	174	cd05078	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	176	cd05077	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	166	cd05115	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	270_G	cd07840	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	170	cd05086	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	175	cd05087	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	164	cd05084	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	283	cd07842	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	217	cd07838	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	189	cd07843	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	216_G	cd07833	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	212	cd07829	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	180	cd05118	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	115	smart00750	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	312	cd05107	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	309	cd05055	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	188	cd07864	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	217	cd07866	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	192	cd06638	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	204	cd05100	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	204	cd05099	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	187	cd07837	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	170	cd08223	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	174	cd08222	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	236	cd08215	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	191	cd08528	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	169	cd05605	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	255	cd07834	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	175	cd05583	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	174	cd08529	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	211	cd06627	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	184	cd06612	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	208	cd05122	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	170	cd07861	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	197	cd06609	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	239	cd08217	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	171	cd07836	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	174	cd07831	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	197	cd05045	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	193	cd05035	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	197	cd05075	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	183	cd05074	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	771	smart00221	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	168	cd07860	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	555	smart00219	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	353	pfam07714	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	297	pfam00069	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	179	cd06634	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	192	cd06618	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	175	cd08224	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	174	cd05148	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	201	cd06652	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	178	cd07863	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	179	cd06607	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	292	cd05106	4585712,NP_002520
4914	94730402	Disease	p.Pro695Leu	VAR_009633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009633	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	294	cd05104	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	198	cd05578	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	190	cd05071	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	216	cd07852	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	208	cd05062	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	253	cd05032	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	211	cd05036	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	209	cd05061	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	201	cd05034	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	184	cd05083	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	186	cd05082	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	191	cd05072	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	190	cd05069	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	196	cd05068	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	190	cd05070	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	193	cd05039	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	191	cd05073	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	190	cd05067	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	226	cd05056	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	192	cd05052	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	218	cd07865	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	781	smart00220	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	204	cd06659	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	226	cd05101	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	188	cd06642	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	196	cd06613	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	188	cd06640	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	188	cd06641	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	195	cd07847	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	211	cd07845	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	209	cd05076	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	196	cd06653	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	203	cd06629	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	196	cd06651	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	197	cd06625	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	185	cd05582	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	203	cd06624	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	193	cd06620	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	196	cd06645	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	196	cd06646	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	252	cd05057	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	256	cd05096	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	274	cd05046	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	221	cd05049	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	211	cd05092	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	259	cd05051	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	230	cd05095	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	222	cd05050	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	220	cd05097	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	219	cd05094	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	209	cd05093	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	213	cd05091	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	213	cd05090	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	216	cd05048	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	196	cd05064	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	198	cd05063	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	192	cd07844	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	191	cd07871	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	191	cd07870	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	196	cd05058	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	210	cd07832	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	198	cd05047	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	206	cd05044	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	191	cd08221	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	182	cd05085	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	183	cd05619	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	188	cd05577	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	731	cd05579	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	258	cd05572	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	799	cd05123	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	185	cd05570	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	672	cd00180	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	195	cd06643	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	198	cd05108	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	198	cd05110	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	202	cd06644	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	198	cd05109	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	198	cd05111	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	210	cd05088	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	269	cd05103	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	267	cd05102	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	318	cd05054	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	215	cd07835	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	263	cd07830	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	241	cd06614	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	239	cd05053	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	189	cd05113	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	188	cd05114	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	188	cd05112	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	190	cd05059	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	197	cd05080	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	205	cd06616	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	198	cd05081	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	198	cd05065	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	225	cd05038	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	232	cd05033	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	199	cd05079	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	196	cd05066	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	234	cd05043	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	329	cd05105	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	218	cd05037	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	425	cd00192	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	185	cd05116	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	192	cd05060	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	200	cd05042	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	185	cd05041	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	200	cd05040	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	202	cd06647	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	203	cd06648	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	229	cd05098	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	193	cd08228	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	187	cd06615	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	197	cd07862	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	212	cd06622	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	211	cd06610	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	195	cd06617	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	188	cd08218	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	193	cd08229	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	189	cd08225	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	187	cd08219	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	250	cd05580	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	211	cd06605	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	205	cd05089	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	893	COG0515	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	185	cd05612	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	246	cd06623	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	196	cd06621	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	225	cd07841	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	438	cd05581	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	195	cd08530	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	240	cd06608	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	201	cd06917	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	196	cd06630	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	234	cd06626	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	197	cd08220	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	213	cd06632	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	203	cd06628	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	234	cd07846	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	197	cd06631	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	187	cd07839	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	333	cd06606	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	197	cd06611	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	194	cd05078	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	196	cd05077	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	185	cd05115	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	287	cd07840	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	196	cd05086	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	201	cd05087	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	183	cd05084	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	303	cd07842	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	236	cd07838	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	211	cd07843	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	247	cd07833	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	242	cd07829	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	200	cd05118	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	178	smart00750	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	331	cd05107	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	328	cd05055	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	208	cd07864	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	237	cd07866	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	216	cd06638	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	223	cd05100	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	223	cd05099	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	207	cd07837	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	189	cd08223	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	193	cd08222	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	256	cd08215	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	210	cd08528	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	188	cd05605	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	276	cd07834	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	196	cd05583	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	193	cd08529	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	232	cd06627	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	207	cd06612	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	232	cd05122	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	190	cd07861	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	218	cd06609	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	260	cd08217	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	191	cd07836	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	194	cd07831	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	216	cd05045	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	212	cd05035	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	216	cd05075	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	202	cd05074	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	842	smart00221	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	188	cd07860	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	576	smart00219	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	384	pfam07714	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	339	pfam00069	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	201	cd06634	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	210	cd06618	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	194	cd08224	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	193	cd05148	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	220	cd06652	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	197	cd07863	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	201	cd06607	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	311	cd05106	4585712,NP_002520
4914	94730402	Disease	p.Gly714Ser	VAR_009634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009634	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	313	cd05104	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	283	cd05578	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	256	cd05071	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	326	cd07852	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	274	cd05062	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	323	cd05032	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	277	cd05036	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	275	cd05061	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	269	cd05034	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	250	cd05083	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	252	cd05082	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	257	cd05072	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	256	cd05069	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	262	cd05068	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	256	cd05070	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	263	cd05039	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	257	cd05073	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	282	cd05067	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	293	cd05056	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	258	cd05052	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	342	cd07865	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	1231	smart00220	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	271	cd06659	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	295	cd05101	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	255	cd06642	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	253	cd06640	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	253	cd06641	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	301	cd07847	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	273	cd05076	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	265	cd06653	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	261	cd06651	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	263	cd06625	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	264	cd05582	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	270	cd06624	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	325	cd06620	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	265	cd06645	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	265	cd06646	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	318	cd05057	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	330	cd05096	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	342	cd05046	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	297	cd05049	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	285	cd05092	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	349	cd05051	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	305	cd05095	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	288	cd05050	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	294	cd05097	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	338	cd05094	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	275	cd05093	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	279	cd05091	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	279	cd05090	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	282	cd05048	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	262	cd05064	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	264	cd05063	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	285	cd07844	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	276	cd07871	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	283	cd07870	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	262	cd05058	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	313	cd07832	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	264	cd05047	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	272	cd05044	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	266	cd08221	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	248	cd05085	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	258	cd05619	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	272	cd05577	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	275	cd05570	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	870	cd00180	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	276	cd06643	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	264	cd05108	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	264	cd05110	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	278	cd06644	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	264	cd05109	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	264	cd05111	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	276	cd05088	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	336	cd05103	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	334	cd05102	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	385	cd05054	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	304	cd07835	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	394	cd07830	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	310	cd06614	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	310	cd05053	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	255	cd05113	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	254	cd05114	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	254	cd05112	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	256	cd05059	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	277	cd05080	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	281	cd06616	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	279	cd05081	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	264	cd05065	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	325	cd05038	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	298	cd05033	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	279	cd05079	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	262	cd05066	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	307	cd05043	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	396	cd05105	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	293	cd05037	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	522	cd00192	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	251	cd05116	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	258	cd05060	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	270	cd05042	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	251	cd05041	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	268	cd05040	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	271	cd06647	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	273	cd06648	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	298	cd05098	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	261	cd08228	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	302	cd06615	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	270	cd07862	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	283	cd06622	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	287	cd06617	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	253	cd08218	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	264	cd08229	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	254	cd08225	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	252	cd08219	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	339	cd05580	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	329	cd06605	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	271	cd05089	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	1196	COG0515	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	265	cd05612	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	345	cd07841	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	536	cd05581	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	263	cd08530	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	309	cd06608	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	290	cd06917	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	267	cd06630	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	261_G	cd08220	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	269	cd06628	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	306	cd07846	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	266	cd06631	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	285	cd07839	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	429	cd06606	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	277	cd06611	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	260	cd05077	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	251	cd05115	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	376	cd07840	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	266	cd05086	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	271	cd05087	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	249	cd05084	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	343	cd07838	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	296	cd07843	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	370	cd07833	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	364	cd07829	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	310	cd05118	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	285	smart00750	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	398	cd05107	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	395	cd05055	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	294	cd07864	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	285	cd06638	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	293	cd05100	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	289	cd05099	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	301	cd07837	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	254	cd08223	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	258	cd08222	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	335	cd08215	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	276	cd08528	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	285	cd05605	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	469	cd07834	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	271	cd05583	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	281	cd07861	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	301	cd06609	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	328	cd08217	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	294	cd07836	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	299	cd07831	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	282	cd05045	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	279	cd05035	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	282	cd05075	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	268	cd05074	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	1071	smart00221	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	272	cd07860	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	703	smart00219	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	484	pfam07714	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	471	pfam00069	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	287	cd06634	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	311	cd06618	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	266	cd08224	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	292	cd05148	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	285	cd06652	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	279	cd07863	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	291	cd06607	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	378	cd05106	4585712,NP_002520
4914	94730402	Disease	p.Arg780Pro	VAR_009635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009635	- Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]	SWISS	380	cd05104	4585712,NP_002520
23636	134047855	Disease	p.Gln391Pro	VAR_034904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034904	- Infantile striatonigral degeneration (SNDI) [MIM:271930]	SWISS	85	pfam05064	24497609,NP_714941|24497607,NP_714940|301069416,NP_001180286|24497605,NP_057637|24497603,NP_036478
60506	23396778	Disease	p.Cys31Ser	VAR_013867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013867	- Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]	SWISS	2	pfam01462	12007646,NP_072089
60506	23396778	Disease	p.Ala143Pro	VAR_013868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013868	- Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]	SWISS	No Domain	N/A	12007646,NP_072089
60506	23396778	Disease	p.Pro151Leu	VAR_013869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013869	- Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]	SWISS	No Domain	N/A	12007646,NP_072089
60506	23396778	Disease	p.Pro175Arg	VAR_013870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013870	- Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]	SWISS	No Domain	N/A	12007646,NP_072089
60506	23396778	Disease	p.Leu184Pro	VAR_013871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013871	- Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]	SWISS	No Domain	N/A	12007646,NP_072089
60506	23396778	Disease	p.Ala187Lys	VAR_013872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013872	- Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]	SWISS	No Domain	N/A	12007646,NP_072089
60506	23396778	Disease	p.Leu213Gln	VAR_013873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013873	- Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]	SWISS	No Domain	N/A	12007646,NP_072089
60506	23396778	Disease	p.Asn216Ser	VAR_013874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013874	- Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]	SWISS	No Domain	N/A	12007646,NP_072089
60506	23396778	Disease	p.Leu232Pro	VAR_013875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013875	- Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]	SWISS	No Domain	N/A	12007646,NP_072089
60506	23396778	Disease	p.Asn264Lys	VAR_013876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013876	- Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]	SWISS	No Domain	N/A	12007646,NP_072089
60506	23396778	Disease	p.Leu285Pro	VAR_013877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013877	- Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]	SWISS	10	smart00370	12007646,NP_072089
60506	23396778	Disease	p.Leu285Pro	VAR_013877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013877	- Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]	SWISS	10	smart00369	12007646,NP_072089
60506	23396778	Disease	p.Phe298Ser	VAR_013878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013878	- Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]	SWISS	27	smart00370	12007646,NP_072089
60506	23396778	Disease	p.Phe298Ser	VAR_013878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013878	- Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]	SWISS	27	smart00369	12007646,NP_072089
60506	23396778	Disease	p.Leu307Pro	VAR_013879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013879	- Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]	SWISS	No Domain	N/A	12007646,NP_072089
60506	23396778	Disease	p.Asn312Ser	VAR_013880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013880	- Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]	SWISS	No Domain	N/A	12007646,NP_072089
60506	23396778	Disease	p.Leu347Pro	VAR_013881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013881	- Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]	SWISS	12	smart00082	12007646,NP_072089
60506	23396778	Disease	p.Gly370Val	VAR_013882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013882	- Congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]	SWISS	54	smart00082	12007646,NP_072089
4942	129018	Disease	p.Asn54Lys	VAR_000565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000565	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	20	COG4992	4557809,NP_000265
4942	129018	Disease	p.Asn54Lys	VAR_000565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000565	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	22	COG0161	4557809,NP_000265
4942	129018	Disease	p.Asn54Lys	VAR_000565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000565	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	28	COG0001	4557809,NP_000265
4942	129018	Disease	p.Asn54Lys	VAR_000565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000565	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	12	cd00610	4557809,NP_000265
4942	129018	Disease	p.Asn54Lys	VAR_000565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000565	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	34	COG0160	4557809,NP_000265
4942	129018	Disease	p.Tyr55His	VAR_000566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000566	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	21	COG4992	4557809,NP_000265
4942	129018	Disease	p.Tyr55His	VAR_000566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000566	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	23	COG0161	4557809,NP_000265
4942	129018	Disease	p.Tyr55His	VAR_000566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000566	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	29	COG0001	4557809,NP_000265
4942	129018	Disease	p.Tyr55His	VAR_000566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000566	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	13	cd00610	4557809,NP_000265
4942	129018	Disease	p.Tyr55His	VAR_000566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000566	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	35	COG0160	4557809,NP_000265
4942	129018	Disease	p.Asn89Lys	VAR_000567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000567	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	70	COG4992	4557809,NP_000265
4942	129018	Disease	p.Asn89Lys	VAR_000567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000567	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	66	COG0161	4557809,NP_000265
4942	129018	Disease	p.Asn89Lys	VAR_000567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000567	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	67	COG0001	4557809,NP_000265
4942	129018	Disease	p.Asn89Lys	VAR_000567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000567	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	30	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Asn89Lys	VAR_000567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000567	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	68	cd00610	4557809,NP_000265
4942	129018	Disease	p.Asn89Lys	VAR_000567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000567	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	109	COG0160	4557809,NP_000265
4942	129018	Disease	p.Gln90Glu	VAR_015648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015648	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	71	COG4992	4557809,NP_000265
4942	129018	Disease	p.Gln90Glu	VAR_015648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015648	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	67	COG0161	4557809,NP_000265
4942	129018	Disease	p.Gln90Glu	VAR_015648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015648	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	68	COG0001	4557809,NP_000265
4942	129018	Disease	p.Gln90Glu	VAR_015648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015648	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	31	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Gln90Glu	VAR_015648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015648	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	69	cd00610	4557809,NP_000265
4942	129018	Disease	p.Gln90Glu	VAR_015648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015648	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	110	COG0160	4557809,NP_000265
4942	129018	Disease	p.Cys93Phe	VAR_000568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000568	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	74	COG4992	4557809,NP_000265
4942	129018	Disease	p.Cys93Phe	VAR_000568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000568	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	70	COG0161	4557809,NP_000265
4942	129018	Disease	p.Cys93Phe	VAR_000568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000568	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	71	COG0001	4557809,NP_000265
4942	129018	Disease	p.Cys93Phe	VAR_000568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000568	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	34	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Cys93Phe	VAR_000568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000568	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	73	cd00610	4557809,NP_000265
4942	129018	Disease	p.Cys93Phe	VAR_000568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000568	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	113	COG0160	4557809,NP_000265
4942	129018	Disease	p.Arg154Leu	VAR_000569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000569	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	145	COG4992	4557809,NP_000265
4942	129018	Disease	p.Arg154Leu	VAR_000569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000569	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	48	cd01494	4557809,NP_000265
4942	129018	Disease	p.Arg154Leu	VAR_000569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000569	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	142	COG0161	4557809,NP_000265
4942	129018	Disease	p.Arg154Leu	VAR_000569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000569	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	137	COG0001	4557809,NP_000265
4942	129018	Disease	p.Arg154Leu	VAR_000569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000569	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	103	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Arg154Leu	VAR_000569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000569	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	158	cd00610	4557809,NP_000265
4942	129018	Disease	p.Arg154Leu	VAR_000569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000569	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	190	COG0160	4557809,NP_000265
4942	129018	Disease	p.Arg180Thr	VAR_000570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000570	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	175	COG4992	4557809,NP_000265
4942	129018	Disease	p.Arg180Thr	VAR_000570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000570	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	92	cd01494	4557809,NP_000265
4942	129018	Disease	p.Arg180Thr	VAR_000570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000570	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	169	COG0161	4557809,NP_000265
4942	129018	Disease	p.Arg180Thr	VAR_000570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000570	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	155	COG0001	4557809,NP_000265
4942	129018	Disease	p.Arg180Thr	VAR_000570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000570	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	149	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Arg180Thr	VAR_000570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000570	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	204	cd00610	4557809,NP_000265
4942	129018	Disease	p.Arg180Thr	VAR_000570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000570	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	235	COG0160	4557809,NP_000265
4942	129018	Disease	p.Ala226Val	VAR_000572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000572	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	236	COG4992	4557809,NP_000265
4942	129018	Disease	p.Ala226Val	VAR_000572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000572	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	165	cd01494	4557809,NP_000265
4942	129018	Disease	p.Ala226Val	VAR_000572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000572	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	247	COG0161	4557809,NP_000265
4942	129018	Disease	p.Ala226Val	VAR_000572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000572	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	243	COG0001	4557809,NP_000265
4942	129018	Disease	p.Ala226Val	VAR_000572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000572	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	232	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Ala226Val	VAR_000572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000572	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	307	cd00610	4557809,NP_000265
4942	129018	Disease	p.Ala226Val	VAR_000572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000572	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	309	COG0160	4557809,NP_000265
4942	129018	Disease	p.Pro241Leu	VAR_000573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000573	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	251	COG4992	4557809,NP_000265
4942	129018	Disease	p.Pro241Leu	VAR_000573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000573	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	180	cd01494	4557809,NP_000265
4942	129018	Disease	p.Pro241Leu	VAR_000573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000573	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	263	COG0161	4557809,NP_000265
4942	129018	Disease	p.Pro241Leu	VAR_000573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000573	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	260	COG0001	4557809,NP_000265
4942	129018	Disease	p.Pro241Leu	VAR_000573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000573	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	248	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Pro241Leu	VAR_000573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000573	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	324	cd00610	4557809,NP_000265
4942	129018	Disease	p.Pro241Leu	VAR_000573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000573	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	324	COG0160	4557809,NP_000265
4942	129018	Disease	p.Tyr245Cys	VAR_000574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000574	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	255	COG4992	4557809,NP_000265
4942	129018	Disease	p.Tyr245Cys	VAR_000574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000574	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	184	cd01494	4557809,NP_000265
4942	129018	Disease	p.Tyr245Cys	VAR_000574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000574	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	267	COG0161	4557809,NP_000265
4942	129018	Disease	p.Tyr245Cys	VAR_000574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000574	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	264	COG0001	4557809,NP_000265
4942	129018	Disease	p.Tyr245Cys	VAR_000574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000574	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	252	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Tyr245Cys	VAR_000574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000574	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	328	cd00610	4557809,NP_000265
4942	129018	Disease	p.Tyr245Cys	VAR_000574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000574	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	328	COG0160	4557809,NP_000265
4942	129018	Disease	p.Arg250Pro	VAR_000575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000575	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	260	COG4992	4557809,NP_000265
4942	129018	Disease	p.Arg250Pro	VAR_000575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000575	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	189	cd01494	4557809,NP_000265
4942	129018	Disease	p.Arg250Pro	VAR_000575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000575	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	272	COG0161	4557809,NP_000265
4942	129018	Disease	p.Arg250Pro	VAR_000575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000575	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	269	COG0001	4557809,NP_000265
4942	129018	Disease	p.Arg250Pro	VAR_000575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000575	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	257	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Arg250Pro	VAR_000575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000575	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	333	cd00610	4557809,NP_000265
4942	129018	Disease	p.Arg250Pro	VAR_000575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000575	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	333	COG0160	4557809,NP_000265
4942	129018	Disease	p.Thr267Ile	VAR_000576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000576	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	277	COG4992	4557809,NP_000265
4942	129018	Disease	p.Thr267Ile	VAR_000576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000576	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	206	cd01494	4557809,NP_000265
4942	129018	Disease	p.Thr267Ile	VAR_000576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000576	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	289	COG0161	4557809,NP_000265
4942	129018	Disease	p.Thr267Ile	VAR_000576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000576	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	286	COG0001	4557809,NP_000265
4942	129018	Disease	p.Thr267Ile	VAR_000576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000576	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	274	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Thr267Ile	VAR_000576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000576	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	350	cd00610	4557809,NP_000265
4942	129018	Disease	p.Thr267Ile	VAR_000576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000576	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	350	COG0160	4557809,NP_000265
4942	129018	Disease	p.Ala270Pro	VAR_000577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000577	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	280	COG4992	4557809,NP_000265
4942	129018	Disease	p.Ala270Pro	VAR_000577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000577	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	209	cd01494	4557809,NP_000265
4942	129018	Disease	p.Ala270Pro	VAR_000577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000577	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	292	COG0161	4557809,NP_000265
4942	129018	Disease	p.Ala270Pro	VAR_000577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000577	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	288_G	COG0001	4557809,NP_000265
4942	129018	Disease	p.Ala270Pro	VAR_000577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000577	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	277	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Ala270Pro	VAR_000577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000577	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	353	cd00610	4557809,NP_000265
4942	129018	Disease	p.Ala270Pro	VAR_000577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000577	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	353	COG0160	4557809,NP_000265
4942	129018	Disease	p.Arg271Lys	VAR_000578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000578	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	281	COG4992	4557809,NP_000265
4942	129018	Disease	p.Arg271Lys	VAR_000578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000578	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	210	cd01494	4557809,NP_000265
4942	129018	Disease	p.Arg271Lys	VAR_000578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000578	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	293	COG0161	4557809,NP_000265
4942	129018	Disease	p.Arg271Lys	VAR_000578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000578	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	289	COG0001	4557809,NP_000265
4942	129018	Disease	p.Arg271Lys	VAR_000578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000578	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	278	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Arg271Lys	VAR_000578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000578	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	354	cd00610	4557809,NP_000265
4942	129018	Disease	p.Arg271Lys	VAR_000578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000578	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	354	COG0160	4557809,NP_000265
4942	129018	Disease	p.His319Tyr	VAR_000579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000579	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	336	COG4992	4557809,NP_000265
4942	129018	Disease	p.His319Tyr	VAR_000579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000579	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	365	COG0161	4557809,NP_000265
4942	129018	Disease	p.His319Tyr	VAR_000579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000579	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	357	COG0001	4557809,NP_000265
4942	129018	Disease	p.His319Tyr	VAR_000579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000579	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	341	pfam00202	4557809,NP_000265
4942	129018	Disease	p.His319Tyr	VAR_000579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000579	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	427	cd00610	4557809,NP_000265
4942	129018	Disease	p.His319Tyr	VAR_000579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000579	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	406	COG0160	4557809,NP_000265
4942	129018	Disease	p.Val332Met	VAR_000580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000580	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	350	COG4992	4557809,NP_000265
4942	129018	Disease	p.Val332Met	VAR_000580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000580	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	378	COG0161	4557809,NP_000265
4942	129018	Disease	p.Val332Met	VAR_000580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000580	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	370	COG0001	4557809,NP_000265
4942	129018	Disease	p.Val332Met	VAR_000580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000580	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	354	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Val332Met	VAR_000580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000580	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	440	cd00610	4557809,NP_000265
4942	129018	Disease	p.Val332Met	VAR_000580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000580	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	422	COG0160	4557809,NP_000265
4942	129018	Disease	p.Gly353Asp	VAR_000581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000581	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	372	COG4992	4557809,NP_000265
4942	129018	Disease	p.Gly353Asp	VAR_000581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000581	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	400	COG0161	4557809,NP_000265
4942	129018	Disease	p.Gly353Asp	VAR_000581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000581	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	394	COG0001	4557809,NP_000265
4942	129018	Disease	p.Gly353Asp	VAR_000581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000581	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	375	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Gly353Asp	VAR_000581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000581	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	469	cd00610	4557809,NP_000265
4942	129018	Disease	p.Gly353Asp	VAR_000581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000581	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	451	COG0160	4557809,NP_000265
4942	129018	Disease	p.Gly375Ala	VAR_000582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000582	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	397	COG4992	4557809,NP_000265
4942	129018	Disease	p.Gly375Ala	VAR_000582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000582	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	430	COG0161	4557809,NP_000265
4942	129018	Disease	p.Gly375Ala	VAR_000582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000582	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	419	COG0001	4557809,NP_000265
4942	129018	Disease	p.Gly375Ala	VAR_000582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000582	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	403	pfam00202	4557809,NP_000265
4942	129018	Disease	p.Gly375Ala	VAR_000582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000582	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	499	cd00610	4557809,NP_000265
4942	129018	Disease	p.Gly375Ala	VAR_000582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000582	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	476	COG0160	4557809,NP_000265
4942	129018	Disease	p.Cys394Arg	VAR_000583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000583	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	442	COG4992	4557809,NP_000265
4942	129018	Disease	p.Cys394Arg	VAR_000583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000583	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	460	COG0161	4557809,NP_000265
4942	129018	Disease	p.Cys394Arg	VAR_000583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000583	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	471	COG0001	4557809,NP_000265
4942	129018	Disease	p.Cys394Arg	VAR_000583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000583	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	565	cd00610	4557809,NP_000265
4942	129018	Disease	p.Cys394Arg	VAR_000583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000583	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	507	COG0160	4557809,NP_000265
4942	129018	Disease	p.Leu402Pro	VAR_000584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000584	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	471	COG4992	4557809,NP_000265
4942	129018	Disease	p.Leu402Pro	VAR_000584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000584	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	468	COG0161	4557809,NP_000265
4942	129018	Disease	p.Leu402Pro	VAR_000584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000584	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	481	COG0001	4557809,NP_000265
4942	129018	Disease	p.Leu402Pro	VAR_000584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000584	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	573	cd00610	4557809,NP_000265
4942	129018	Disease	p.Leu402Pro	VAR_000584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000584	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	515	COG0160	4557809,NP_000265
4942	129018	Disease	p.Pro417Leu	VAR_000585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000585	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	488	COG4992	4557809,NP_000265
4942	129018	Disease	p.Pro417Leu	VAR_000585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000585	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	491	COG0161	4557809,NP_000265
4942	129018	Disease	p.Pro417Leu	VAR_000585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000585	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	505_G	COG0001	4557809,NP_000265
4942	129018	Disease	p.Pro417Leu	VAR_000585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000585	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	603	cd00610	4557809,NP_000265
4942	129018	Disease	p.Pro417Leu	VAR_000585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000585	- Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]	SWISS	534	COG0160	4557809,NP_000265
4948	90110050	Disease	p.Arg10Trp	VAR_020622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020622	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	No Domain	N/A	157266326,NP_000266
4948	90110050	Disease	p.Gly27Arg	VAR_006117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006117	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	No Domain	N/A	157266326,NP_000266
4948	90110050	Disease	p.Ser86Arg	VAR_006118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006118	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	No Domain	N/A	157266326,NP_000266
4948	90110050	Disease	p.Cys112Phe	VAR_006119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006119	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	No Domain	N/A	157266326,NP_000266
4948	90110050	Disease	p.Pro198Leu	VAR_020623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020623	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	No Domain	N/A	157266326,NP_000266
4948	90110050	Disease	p.Pro211Leu	VAR_020624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020624	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	No Domain	N/A	157266326,NP_000266
4948	90110050	Disease	p.Arg290Gly	VAR_020625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020625	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	No Domain	N/A	157266326,NP_000266
4948	90110050	Disease	p.Ala334Val	VAR_020626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020626	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	8	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Ala334Val	VAR_020626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020626	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	2	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Ala334Val	VAR_020626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020626	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	60	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Ala368Val	VAR_006124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006124	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	44	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Ala368Val	VAR_006124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006124	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	32	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Ala368Val	VAR_006124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006124	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	32	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Ala368Val	VAR_006124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006124	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	34	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Ala368Val	VAR_006124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006124	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	96	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Ala368Val	VAR_006124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006124	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	33	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Ala368Val	VAR_006124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006124	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	37	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Ala368Val	VAR_006124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006124	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	37	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Phe385Ile	VAR_006125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006125	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	69	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Phe385Ile	VAR_006125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006125	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	46	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Phe385Ile	VAR_006125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006125	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	47	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Phe385Ile	VAR_006125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006125	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	68	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Phe385Ile	VAR_006125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006125	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	137	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Phe385Ile	VAR_006125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006125	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	80	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Phe385Ile	VAR_006125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006125	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	62	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Phe385Ile	VAR_006125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006125	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	67	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Met394Ile	VAR_020630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020630	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	78	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Met394Ile	VAR_020630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020630	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	62	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Met394Ile	VAR_020630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020630	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	56	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Met394Ile	VAR_020630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020630	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	77	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Met394Ile	VAR_020630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020630	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	146	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Met394Ile	VAR_020630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020630	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	89	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Met394Ile	VAR_020630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020630	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	71	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Met394Ile	VAR_020630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020630	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	76	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Met395Leu	VAR_006126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006126	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	79	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Met395Leu	VAR_006126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006126	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	63	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Met395Leu	VAR_006126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006126	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	57	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Met395Leu	VAR_006126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006126	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	78	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Met395Leu	VAR_006126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006126	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	147	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Met395Leu	VAR_006126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006126	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	90	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Met395Leu	VAR_006126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006126	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	72	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Met395Leu	VAR_006126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006126	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	77	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Thr404Met	VAR_006127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006127	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	88	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Thr404Met	VAR_006127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006127	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	72	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Thr404Met	VAR_006127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006127	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	66	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Thr404Met	VAR_006127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006127	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	87	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Thr404Met	VAR_006127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006127	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	156	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Thr404Met	VAR_006127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006127	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	99	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Thr404Met	VAR_006127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006127	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	81	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Thr404Met	VAR_006127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006127	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	86	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Arg419Trp	VAR_006129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006129	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	103	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Arg419Trp	VAR_006129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006129	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	87	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Arg419Trp	VAR_006129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006129	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	83	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Arg419Trp	VAR_006129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006129	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	103	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Arg419Trp	VAR_006129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006129	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	180	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Arg419Trp	VAR_006129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006129	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	114	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Arg419Trp	VAR_006129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006129	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	96	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Arg419Trp	VAR_006129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006129	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	101	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Val443Ile	VAR_006132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006132	rs28934272 Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	135	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Val443Ile	VAR_006132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006132	rs28934272 Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	119	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Val443Ile	VAR_006132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006132	rs28934272 Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	106	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Val443Ile	VAR_006132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006132	rs28934272 Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	136	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Val443Ile	VAR_006132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006132	rs28934272 Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	207	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Val443Ile	VAR_006132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006132	rs28934272 Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	138	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Val443Ile	VAR_006132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006132	rs28934272 Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	121	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Val443Ile	VAR_006132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006132	rs28934272 Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	126	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Met446Val	VAR_006133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006133	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	138	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Met446Val	VAR_006133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006133	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	122	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Met446Val	VAR_006133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006133	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	109	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Met446Val	VAR_006133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006133	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	139	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Met446Val	VAR_006133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006133	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	233	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Met446Val	VAR_006133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006133	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	141	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Met446Val	VAR_006133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006133	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	124	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Met446Val	VAR_006133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006133	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	129	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Ile473Ser	VAR_006134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006134	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	171	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Ile473Ser	VAR_006134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006134	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	151	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Ile473Ser	VAR_006134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006134	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	138	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Ile473Ser	VAR_006134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006134	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	220	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Ile473Ser	VAR_006134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006134	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	309	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Ile473Ser	VAR_006134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006134	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	169	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Ile473Ser	VAR_006134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006134	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	151	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Ile473Ser	VAR_006134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006134	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	211	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Asn476Asp	VAR_043700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043700	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	174	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Asn476Asp	VAR_043700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043700	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	154	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Asn476Asp	VAR_043700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043700	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	141	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Asn476Asp	VAR_043700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043700	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	223	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Asn476Asp	VAR_043700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043700	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	312	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Asn476Asp	VAR_043700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043700	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	172	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Asn476Asp	VAR_043700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043700	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	154	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Asn476Asp	VAR_043700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043700	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	214	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Ala481Thr	VAR_007940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007940	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	179	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Ala481Thr	VAR_007940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007940	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	160	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Ala481Thr	VAR_007940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007940	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	146	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Ala481Thr	VAR_007940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007940	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	228	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Ala481Thr	VAR_007940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007940	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	328	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Ala481Thr	VAR_007940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007940	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	177	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Ala481Thr	VAR_007940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007940	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	159	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Ala481Thr	VAR_007940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007940	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	219	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Asn489Asp	VAR_006135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006135	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	187	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Asn489Asp	VAR_006135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006135	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	162	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Asn489Asp	VAR_006135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006135	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	154	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Asn489Asp	VAR_006135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006135	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	236	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Asn489Asp	VAR_006135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006135	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	336	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Asn489Asp	VAR_006135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006135	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	185	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Asn489Asp	VAR_006135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006135	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	167	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Asn489Asp	VAR_006135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006135	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	227	cd01115	157266326,NP_000266
4948	90110050	Disease	p.His549Gln	VAR_006136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006136	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	250	COG1055	157266326,NP_000266
4948	90110050	Disease	p.His549Gln	VAR_006136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006136	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	215	cd01118	157266326,NP_000266
4948	90110050	Disease	p.His549Gln	VAR_006136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006136	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	215	cd01117	157266326,NP_000266
4948	90110050	Disease	p.His549Gln	VAR_006136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006136	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	318	cd00625	157266326,NP_000266
4948	90110050	Disease	p.His549Gln	VAR_006136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006136	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	401	COG0471	157266326,NP_000266
4948	90110050	Disease	p.His549Gln	VAR_006136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006136	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	255	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.His549Gln	VAR_006136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006136	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	242	cd01116	157266326,NP_000266
4948	90110050	Disease	p.His549Gln	VAR_006136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006136	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	338	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Thr592Ile	VAR_006137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006137	rs1800413 Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	258	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Thr592Ile	VAR_006137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006137	rs1800413 Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	263	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Thr592Ile	VAR_006137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006137	rs1800413 Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	277	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Thr592Ile	VAR_006137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006137	rs1800413 Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	503	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Thr592Ile	VAR_006137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006137	rs1800413 Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	433	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Thr592Ile	VAR_006137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006137	rs1800413 Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	412	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Thr592Ile	VAR_006137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006137	rs1800413 Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	285	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Thr592Ile	VAR_006137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006137	rs1800413 Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	381	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Lys614Glu	VAR_020631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020631	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	260_G	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Lys614Glu	VAR_020631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020631	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	267_G	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Lys614Glu	VAR_020631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020631	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	341	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Lys614Glu	VAR_020631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020631	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	525	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Lys614Glu	VAR_020631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020631	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	452	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Lys614Glu	VAR_020631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020631	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	434	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Lys614Glu	VAR_020631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020631	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	307	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Lys614Glu	VAR_020631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020631	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	497	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Lys614Asn	VAR_006138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006138	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	260_G	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Lys614Asn	VAR_006138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006138	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	267_G	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Lys614Asn	VAR_006138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006138	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	341	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Lys614Asn	VAR_006138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006138	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	525	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Lys614Asn	VAR_006138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006138	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	452	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Lys614Asn	VAR_006138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006138	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	434	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Lys614Asn	VAR_006138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006138	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	307	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Lys614Asn	VAR_006138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006138	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	497	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Ile617Leu	VAR_020632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020632	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	263	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Ile617Leu	VAR_020632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020632	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	267_G	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Ile617Leu	VAR_020632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020632	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	344	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Ile617Leu	VAR_020632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020632	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	528	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Ile617Leu	VAR_020632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020632	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	453_G	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Ile617Leu	VAR_020632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020632	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	437	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Ile617Leu	VAR_020632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020632	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	310	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Ile617Leu	VAR_020632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020632	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	500	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Trp652Arg	VAR_006140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006140	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	301	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Trp652Arg	VAR_006140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006140	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	296	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Trp652Arg	VAR_006140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006140	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	377	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Trp652Arg	VAR_006140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006140	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	564	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Trp652Arg	VAR_006140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006140	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	474	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Trp652Arg	VAR_006140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006140	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	507	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Trp652Arg	VAR_006140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006140	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	346	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Trp652Arg	VAR_006140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006140	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	532_G	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Trp679Cys	VAR_020634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020634	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	340	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Trp679Cys	VAR_020634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020634	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	327	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Trp679Cys	VAR_020634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020634	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	404	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Trp679Cys	VAR_020634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020634	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	624	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Trp679Cys	VAR_020634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020634	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	505	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Trp679Cys	VAR_020634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020634	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	543	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Trp679Cys	VAR_020634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020634	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	405	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Trp679Cys	VAR_020634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020634	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	581	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Trp679Arg	VAR_006141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006141	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	340	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Trp679Arg	VAR_006141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006141	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	327	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Trp679Arg	VAR_006141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006141	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	404	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Trp679Arg	VAR_006141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006141	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	624	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Trp679Arg	VAR_006141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006141	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	505	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Trp679Arg	VAR_006141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006141	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	543	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Trp679Arg	VAR_006141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006141	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	405	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Trp679Arg	VAR_006141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006141	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	581	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Arg720Cys	VAR_020636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020636	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	379	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Arg720Cys	VAR_020636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020636	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	367	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Arg720Cys	VAR_020636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020636	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	445	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Arg720Cys	VAR_020636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020636	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	670	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Arg720Cys	VAR_020636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020636	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	544	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Arg720Cys	VAR_020636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020636	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	584	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Arg720Cys	VAR_020636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020636	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	446	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Arg720Cys	VAR_020636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020636	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	619	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Ala724Pro	VAR_006143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006143	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	383	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Ala724Pro	VAR_006143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006143	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	371	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Ala724Pro	VAR_006143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006143	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	449	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Ala724Pro	VAR_006143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006143	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	674	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Ala724Pro	VAR_006143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006143	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	551	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Ala724Pro	VAR_006143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006143	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	588	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Ala724Pro	VAR_006143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006143	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	450	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Ala724Pro	VAR_006143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006143	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	623	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Ser736Leu	VAR_006144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006144	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	395	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Ser736Leu	VAR_006144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006144	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	383	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Ser736Leu	VAR_006144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006144	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	461	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Ser736Leu	VAR_006144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006144	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	686	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Ser736Leu	VAR_006144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006144	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	563	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Ser736Leu	VAR_006144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006144	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	600	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Ser736Leu	VAR_006144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006144	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	462	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Ser736Leu	VAR_006144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006144	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	635	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Pro743Leu	VAR_006145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006145	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	402	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Pro743Leu	VAR_006145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006145	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	390	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Pro743Leu	VAR_006145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006145	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	468	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Pro743Leu	VAR_006145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006145	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	693	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Pro743Leu	VAR_006145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006145	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	570	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Pro743Leu	VAR_006145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006145	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	607	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Pro743Leu	VAR_006145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006145	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	469	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Pro743Leu	VAR_006145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006145	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	642	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Gly775Arg	VAR_043701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043701	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	448	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Gly775Arg	VAR_043701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043701	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	420	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Gly775Arg	VAR_043701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043701	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	499	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Gly775Arg	VAR_043701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043701	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	739	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Gly775Arg	VAR_043701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043701	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	606	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Gly775Arg	VAR_043701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043701	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	646	pfam03600	157266326,NP_000266
4948	90110050	Disease	p.Gly775Arg	VAR_043701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043701	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	515	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Gly775Arg	VAR_043701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043701	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	678	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Ala787Val	VAR_006146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006146	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	460	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Ala787Val	VAR_006146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006146	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	432	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Ala787Val	VAR_006146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006146	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	511	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Ala787Val	VAR_006146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006146	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	751	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Ala787Val	VAR_006146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006146	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	618	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Ala787Val	VAR_006146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006146	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	527	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Ala787Val	VAR_006146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006146	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	689	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Gly795Arg	VAR_020637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020637	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	468	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Gly795Arg	VAR_020637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020637	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	440	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Gly795Arg	VAR_020637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020637	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	519	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Gly795Arg	VAR_020637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020637	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	759	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Gly795Arg	VAR_020637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020637	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	626	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Gly795Arg	VAR_020637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020637	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	535	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Gly795Arg	VAR_020637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020637	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	697	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Gln799His	VAR_020638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020638	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	472	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Gln799His	VAR_020638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020638	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	444	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Gln799His	VAR_020638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020638	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	523	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Gln799His	VAR_020638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020638	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	763	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Gln799His	VAR_020638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020638	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	628_G	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Gln799His	VAR_020638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020638	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	539	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Gln799His	VAR_020638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020638	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	701	cd01115	157266326,NP_000266
4948	90110050	Disease	p.Tyr827His	VAR_043702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043702	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	501	COG1055	157266326,NP_000266
4948	90110050	Disease	p.Tyr827His	VAR_043702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043702	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	473	cd01118	157266326,NP_000266
4948	90110050	Disease	p.Tyr827His	VAR_043702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043702	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	554	cd01117	157266326,NP_000266
4948	90110050	Disease	p.Tyr827His	VAR_043702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043702	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	804	cd00625	157266326,NP_000266
4948	90110050	Disease	p.Tyr827His	VAR_043702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043702	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	653	COG0471	157266326,NP_000266
4948	90110050	Disease	p.Tyr827His	VAR_043702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043702	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	580	cd01116	157266326,NP_000266
4948	90110050	Disease	p.Tyr827His	VAR_043702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043702	- Albinism oculocutaneous type 2 (OCA2) [MIM:203200]	SWISS	730	cd01115	157266326,NP_000266
4952	67477390	Disease	p.Arg318Cys	VAR_022698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022698	- Dent disease type 2 (DD2) [MIM:300555]	SWISS	291	smart00128	13325072,NP_000267
4952	67477390	Disease	p.Arg318Cys	VAR_022698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022698	- Dent disease type 2 (DD2) [MIM:300555]	SWISS	127	COG5411	13325072,NP_000267
4952	67477390	Disease	p.Arg318Cys	VAR_022698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022698	- Dent disease type 2 (DD2) [MIM:300555]	SWISS	107	pfam03372	13325072,NP_000267
4952	67477390	Disease	p.Arg337Pro	VAR_010169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010169	- Lowe syndrome [MIM:309000]	SWISS	312	smart00128	13325072,NP_000267
4952	67477390	Disease	p.Arg337Pro	VAR_010169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010169	- Lowe syndrome [MIM:309000]	SWISS	146	COG5411	13325072,NP_000267
4952	67477390	Disease	p.Arg337Pro	VAR_010169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010169	- Lowe syndrome [MIM:309000]	SWISS	149	pfam03372	13325072,NP_000267
4952	67477390	Disease	p.Gly357Glu	VAR_010170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010170	- Lowe syndrome [MIM:309000]	SWISS	335	smart00128	13325072,NP_000267
4952	67477390	Disease	p.Gly357Glu	VAR_010170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010170	- Lowe syndrome [MIM:309000]	SWISS	174	COG5411	13325072,NP_000267
4952	67477390	Disease	p.Gly357Glu	VAR_010170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010170	- Lowe syndrome [MIM:309000]	SWISS	169	pfam03372	13325072,NP_000267
4952	67477390	Disease	p.Val372Gly	VAR_010172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010172	- Lowe syndrome [MIM:309000]	SWISS	357	smart00128	13325072,NP_000267
4952	67477390	Disease	p.Val372Gly	VAR_010172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010172	- Lowe syndrome [MIM:309000]	SWISS	189	COG5411	13325072,NP_000267
4952	67477390	Disease	p.Val372Gly	VAR_010172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010172	- Lowe syndrome [MIM:309000]	SWISS	256	pfam03372	13325072,NP_000267
4952	67477390	Disease	p.His375Tyr	VAR_010173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010173	- Lowe syndrome [MIM:309000]	SWISS	360	smart00128	13325072,NP_000267
4952	67477390	Disease	p.His375Tyr	VAR_010173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010173	- Lowe syndrome [MIM:309000]	SWISS	192	COG5411	13325072,NP_000267
4952	67477390	Disease	p.His375Tyr	VAR_010173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010173	- Lowe syndrome [MIM:309000]	SWISS	259	pfam03372	13325072,NP_000267
4952	67477390	Disease	p.Gly421Glu	VAR_010174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010174	- Lowe syndrome [MIM:309000]	SWISS	441	smart00128	13325072,NP_000267
4952	67477390	Disease	p.Gly421Glu	VAR_010174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010174	- Lowe syndrome [MIM:309000]	SWISS	234	COG5411	13325072,NP_000267
4952	67477390	Disease	p.Gly421Glu	VAR_010174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010174	- Lowe syndrome [MIM:309000]	SWISS	353	pfam03372	13325072,NP_000267
4952	67477390	Disease	p.Asn424Asp	VAR_010175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010175	- Lowe syndrome [MIM:309000]	SWISS	444	smart00128	13325072,NP_000267
4952	67477390	Disease	p.Asn424Asp	VAR_010175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010175	- Lowe syndrome [MIM:309000]	SWISS	237	COG5411	13325072,NP_000267
4952	67477390	Disease	p.Asn424Asp	VAR_010175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010175	- Lowe syndrome [MIM:309000]	SWISS	356	pfam03372	13325072,NP_000267
4952	67477390	Disease	p.Asp451Gly	VAR_010176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010176	- Lowe syndrome [MIM:309000]	SWISS	539	smart00128	13325072,NP_000267
4952	67477390	Disease	p.Asp451Gly	VAR_010176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010176	- Lowe syndrome [MIM:309000]	SWISS	267	COG5411	13325072,NP_000267
4952	67477390	Disease	p.Asp451Gly	VAR_010176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010176	- Lowe syndrome [MIM:309000]	SWISS	383	pfam03372	13325072,NP_000267
4952	67477390	Disease	p.Phe463Ser	VAR_010177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010177	- Lowe syndrome [MIM:309000]	SWISS	553	smart00128	13325072,NP_000267
4952	67477390	Disease	p.Phe463Ser	VAR_010177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010177	- Lowe syndrome [MIM:309000]	SWISS	279	COG5411	13325072,NP_000267
4952	67477390	Disease	p.Phe463Ser	VAR_010177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010177	- Lowe syndrome [MIM:309000]	SWISS	487	pfam03372	13325072,NP_000267
4952	67477390	Disease	p.Tyr479Cys	VAR_022699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022699	- Dent disease type 2 (DD2) [MIM:300555]	SWISS	570	smart00128	13325072,NP_000267
4952	67477390	Disease	p.Tyr479Cys	VAR_022699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022699	- Dent disease type 2 (DD2) [MIM:300555]	SWISS	295	COG5411	13325072,NP_000267
4952	67477390	Disease	p.Tyr479Cys	VAR_022699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022699	- Dent disease type 2 (DD2) [MIM:300555]	SWISS	503	pfam03372	13325072,NP_000267
4952	67477390	Disease	p.Cys498Tyr	VAR_010178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010178	- Lowe syndrome [MIM:309000]	SWISS	598	smart00128	13325072,NP_000267
4952	67477390	Disease	p.Cys498Tyr	VAR_010178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010178	- Lowe syndrome [MIM:309000]	SWISS	314	COG5411	13325072,NP_000267
4952	67477390	Disease	p.Cys498Tyr	VAR_010178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010178	- Lowe syndrome [MIM:309000]	SWISS	548	pfam03372	13325072,NP_000267
4952	67477390	Disease	p.Arg500Gly	VAR_010179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010179	- Lowe syndrome [MIM:309000]	SWISS	600	smart00128	13325072,NP_000267
4952	67477390	Disease	p.Arg500Gly	VAR_010179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010179	- Lowe syndrome [MIM:309000]	SWISS	317	COG5411	13325072,NP_000267
4952	67477390	Disease	p.Arg500Gly	VAR_010179	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010179	- Lowe syndrome [MIM:309000]	SWISS	550	pfam03372	13325072,NP_000267
4952	67477390	Disease	p.Arg500Gln	VAR_010180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010180	- Lowe syndrome [MIM:309000]	SWISS	600	smart00128	13325072,NP_000267
4952	67477390	Disease	p.Arg500Gln	VAR_010180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010180	- Lowe syndrome [MIM:309000]	SWISS	317	COG5411	13325072,NP_000267
4952	67477390	Disease	p.Arg500Gln	VAR_010180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010180	- Lowe syndrome [MIM:309000]	SWISS	550	pfam03372	13325072,NP_000267
4952	67477390	Disease	p.Val508Asp	VAR_010181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010181	- Lowe syndrome [MIM:309000]	SWISS	629	smart00128	13325072,NP_000267
4952	67477390	Disease	p.Val508Asp	VAR_010181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010181	- Lowe syndrome [MIM:309000]	SWISS	329	COG5411	13325072,NP_000267
4952	67477390	Disease	p.Val508Asp	VAR_010181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010181	- Lowe syndrome [MIM:309000]	SWISS	571	pfam03372	13325072,NP_000267
4952	67477390	Disease	p.Tyr513Cys	VAR_010182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010182	- Lowe syndrome [MIM:309000]	SWISS	653	smart00128	13325072,NP_000267
4952	67477390	Disease	p.Tyr513Cys	VAR_010182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010182	- Lowe syndrome [MIM:309000]	SWISS	334	COG5411	13325072,NP_000267
4952	67477390	Disease	p.Tyr513Cys	VAR_010182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010182	- Lowe syndrome [MIM:309000]	SWISS	576	pfam03372	13325072,NP_000267
4952	67477390	Disease	p.Ser522Arg	VAR_010183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010183	- Lowe syndrome [MIM:309000]	SWISS	665	smart00128	13325072,NP_000267
4952	67477390	Disease	p.Ser522Arg	VAR_010183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010183	- Lowe syndrome [MIM:309000]	SWISS	346	COG5411	13325072,NP_000267
4952	67477390	Disease	p.Ser522Arg	VAR_010183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010183	- Lowe syndrome [MIM:309000]	SWISS	622	pfam03372	13325072,NP_000267
4952	67477390	Disease	p.His524Gln	VAR_010184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010184	- Lowe syndrome [MIM:309000]	SWISS	667	smart00128	13325072,NP_000267
4952	67477390	Disease	p.His524Gln	VAR_010184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010184	- Lowe syndrome [MIM:309000]	SWISS	348	COG5411	13325072,NP_000267
4952	67477390	Disease	p.His524Gln	VAR_010184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010184	- Lowe syndrome [MIM:309000]	SWISS	624	pfam03372	13325072,NP_000267
4952	67477390	Disease	p.His524Arg	VAR_010185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010185	- Lowe syndrome [MIM:309000]	SWISS	667	smart00128	13325072,NP_000267
4952	67477390	Disease	p.His524Arg	VAR_010185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010185	- Lowe syndrome [MIM:309000]	SWISS	348	COG5411	13325072,NP_000267
4952	67477390	Disease	p.His524Arg	VAR_010185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010185	- Lowe syndrome [MIM:309000]	SWISS	624	pfam03372	13325072,NP_000267
4952	67477390	Disease	p.Pro526Leu	VAR_023958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023958	- Lowe syndrome [MIM:309000]	SWISS	669	smart00128	13325072,NP_000267
4952	67477390	Disease	p.Pro526Leu	VAR_023958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023958	- Lowe syndrome [MIM:309000]	SWISS	350	COG5411	13325072,NP_000267
4952	67477390	Disease	p.Pro526Leu	VAR_023958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023958	- Lowe syndrome [MIM:309000]	SWISS	626	pfam03372	13325072,NP_000267
4952	67477390	Disease	p.Ile533Ser	VAR_010187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010187	- Lowe syndrome [MIM:309000]	SWISS	676	smart00128	13325072,NP_000267
4952	67477390	Disease	p.Ile533Ser	VAR_010187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010187	- Lowe syndrome [MIM:309000]	SWISS	357	COG5411	13325072,NP_000267
4952	67477390	Disease	p.Ile768Asn	VAR_010188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010188	- Lowe syndrome [MIM:309000]	SWISS	55	cd04393	13325072,NP_000267
4952	67477390	Disease	p.Ile768Asn	VAR_010188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010188	- Lowe syndrome [MIM:309000]	SWISS	61	cd04404	13325072,NP_000267
4952	67477390	Disease	p.Ile768Asn	VAR_010188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010188	- Lowe syndrome [MIM:309000]	SWISS	142	cd04380	13325072,NP_000267
4952	67477390	Disease	p.Ile768Asn	VAR_010188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010188	- Lowe syndrome [MIM:309000]	SWISS	50	cd04378	13325072,NP_000267
4952	67477390	Disease	p.Ile768Asn	VAR_010188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010188	- Lowe syndrome [MIM:309000]	SWISS	56	cd04390	13325072,NP_000267
4952	67477390	Disease	p.Ile768Asn	VAR_010188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010188	- Lowe syndrome [MIM:309000]	SWISS	54	cd04383	13325072,NP_000267
4952	67477390	Disease	p.Ile768Asn	VAR_010188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010188	- Lowe syndrome [MIM:309000]	SWISS	47	smart00324	13325072,NP_000267
4952	67477390	Disease	p.Ile768Asn	VAR_010188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010188	- Lowe syndrome [MIM:309000]	SWISS	56	cd04373	13325072,NP_000267
4952	67477390	Disease	p.Ile768Asn	VAR_010188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010188	- Lowe syndrome [MIM:309000]	SWISS	54	cd04386	13325072,NP_000267
4952	67477390	Disease	p.Ile768Asn	VAR_010188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010188	- Lowe syndrome [MIM:309000]	SWISS	37	pfam00620	13325072,NP_000267
4952	67477390	Disease	p.Ile768Asn	VAR_010188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010188	- Lowe syndrome [MIM:309000]	SWISS	46	cd00159	13325072,NP_000267
4952	67477390	Disease	p.Ala797Pro	VAR_010189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010189	- Lowe syndrome [MIM:309000]	SWISS	86	cd04393	13325072,NP_000267
4952	67477390	Disease	p.Ala797Pro	VAR_010189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010189	- Lowe syndrome [MIM:309000]	SWISS	112	cd04404	13325072,NP_000267
4952	67477390	Disease	p.Ala797Pro	VAR_010189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010189	- Lowe syndrome [MIM:309000]	SWISS	180	cd04380	13325072,NP_000267
4952	67477390	Disease	p.Ala797Pro	VAR_010189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010189	- Lowe syndrome [MIM:309000]	SWISS	81	cd04378	13325072,NP_000267
4952	67477390	Disease	p.Ala797Pro	VAR_010189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010189	- Lowe syndrome [MIM:309000]	SWISS	87	cd04390	13325072,NP_000267
4952	67477390	Disease	p.Ala797Pro	VAR_010189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010189	- Lowe syndrome [MIM:309000]	SWISS	87	cd04383	13325072,NP_000267
4952	67477390	Disease	p.Ala797Pro	VAR_010189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010189	- Lowe syndrome [MIM:309000]	SWISS	161	smart00324	13325072,NP_000267
4952	67477390	Disease	p.Ala797Pro	VAR_010189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010189	- Lowe syndrome [MIM:309000]	SWISS	88	cd04373	13325072,NP_000267
4952	67477390	Disease	p.Ala797Pro	VAR_010189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010189	- Lowe syndrome [MIM:309000]	SWISS	87	cd04386	13325072,NP_000267
4952	67477390	Disease	p.Ala797Pro	VAR_010189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010189	- Lowe syndrome [MIM:309000]	SWISS	92	pfam00620	13325072,NP_000267
4952	67477390	Disease	p.Ala797Pro	VAR_010189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010189	- Lowe syndrome [MIM:309000]	SWISS	98	cd00159	13325072,NP_000267
8481	12643319	Disease	p.Ser74Phe	VAR_015574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015574	- Oral-facial-digital syndrome type 1 (OFD1) [MIM:311200]	SWISS	6	smart00667	4503179,NP_003602
8481	12643319	Disease	p.Ala79Thr	VAR_030789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030789	- Oral-facial-digital syndrome type 1 (OFD1) [MIM:311200]	SWISS	11	smart00667	4503179,NP_003602
8481	12643319	Disease	p.Gly138Ser	VAR_058758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058758	- Oral-facial-digital syndrome type 1 (OFD1) [MIM:311200]	SWISS	No Domain	N/A	4503179,NP_003602
8481	12643319	Disease	p.Ser435Arg	VAR_013754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013754	- Oral-facial-digital syndrome type 1 (OFD1) [MIM:311200]	SWISS	No Domain	N/A	4503179,NP_003602
4976	215274226	Disease	p.Ala8Ser	VAR_060825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060825	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Tyr80Cys	VAR_060826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060826	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Thr95Met	VAR_060827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060827	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Tyr102Cys	VAR_060828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060828	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Glu270Lys	VAR_060829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060829	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	6	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Leu272Pro	VAR_060830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060830	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	8	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Asp273Ala	VAR_060831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060831	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	9	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Arg290Gln	VAR_011483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011483	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	28	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Arg290Trp	VAR_060832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060832	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	28	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Gly300Glu	VAR_011484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011484	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	38	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Gly300Glu	VAR_011484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011484	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	10	pfam00350	224831243,NP_056375
4976	215274226	Disease	p.Gln310Arg	VAR_060834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060834	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	48	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Gln310Arg	VAR_060834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060834	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	20	pfam00350	224831243,NP_056375
4976	215274226	Disease	p.Ala357Thr	VAR_060836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060836	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	94	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Ala357Thr	VAR_060836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060836	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	126	pfam00350	224831243,NP_056375
4976	215274226	Disease	p.Ile382Met	VAR_060837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060837	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	119	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Ile382Met	VAR_060837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060837	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	209	pfam00350	224831243,NP_056375
4976	215274226	Disease	p.Leu384Phe	VAR_060838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060838	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	121	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Leu384Phe	VAR_060838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060838	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	211	pfam00350	224831243,NP_056375
4976	215274226	Disease	p.Leu396Pro	VAR_060839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060839	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	133	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Leu396Pro	VAR_060839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060839	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	223	pfam00350	224831243,NP_056375
4976	215274226	Disease	p.Leu396Arg	VAR_022927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022927	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	133	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Leu396Arg	VAR_022927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022927	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	223	pfam00350	224831243,NP_056375
4976	215274226	Disease	p.Asn430Asp	VAR_060841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060841	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	167	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Asn430Asp	VAR_060841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060841	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	266	pfam00350	224831243,NP_056375
4976	215274226	Disease	p.Asp438Val	VAR_060842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060842	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	175	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Asp438Val	VAR_060842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060842	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	276	pfam00350	224831243,NP_056375
4976	215274226	Disease	p.Arg445His	VAR_015741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015741	- Optic atrophy 1 with deafness [MIM:125250]	SWISS	182	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Arg445His	VAR_015741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015741	- Optic atrophy 1 with deafness [MIM:125250]	SWISS	285	pfam00350	224831243,NP_056375
4976	215274226	Disease	p.Arg445His	VAR_015741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015741	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	182	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Arg445His	VAR_015741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015741	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	285	pfam00350	224831243,NP_056375
4976	215274226	Disease	p.Thr449Arg	VAR_060843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060843	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	186	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Thr449Arg	VAR_060843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060843	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	289	pfam00350	224831243,NP_056375
4976	215274226	Disease	p.Lys468Glu	VAR_060845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060845	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	205	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Lys468Glu	VAR_060845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060845	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	318	pfam00350	224831243,NP_056375
4976	215274226	Disease	p.Asp470Gly	VAR_060846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060846	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	207	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Glu487Lys	VAR_060847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060847	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	222	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Thr503Lys	VAR_022928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022928	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	237	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Lys505Asn	VAR_060848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060848	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	237_G	smart00053	224831243,NP_056375
4976	215274226	Disease	p.Ser545Arg	VAR_026533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026533	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Cys551Tyr	VAR_060851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060851	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Arg571His	VAR_022929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022929	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Leu574Pro	VAR_060852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060852	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Tyr582Cys	VAR_060853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060853	- Optic atrophy 1 with deafness [MIM:125250]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Arg590Gln	VAR_060854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060854	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Arg590Trp	VAR_060855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060855	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Leu593Pro	VAR_060856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060856	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Ser646Leu	VAR_060857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060857	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Asn728Lys	VAR_060859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060859	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Gly768Asp	VAR_060860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060860	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Arg781Trp	VAR_060861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060861	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Gln785Arg	VAR_060862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060862	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Ser823Tyr	VAR_060863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060863	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Tyr841Cys	VAR_060864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060864	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Arg882Leu	VAR_060865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060865	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Leu887Pro	VAR_060866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060866	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Arg932Cys	VAR_060868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060868	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Leu939Pro	VAR_028370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028370	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
4976	215274226	Disease	p.Leu949Pro	VAR_060869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060869	- Optic atrophy type 1 (OPA1) [MIM:165500]	SWISS	No Domain	N/A	224831243,NP_056375
80207	20139177	Disease	p.Gly93Ser	VAR_033103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033103	- Optic atrophy type 3 (OPA3) [MIM:165300]	SWISS	165	pfam07047	13376717,NP_079412
80207	20139177	Disease	p.Gln105Glu	VAR_033104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033104	- Optic atrophy type 3 (OPA3) [MIM:165300]	SWISS	177	pfam07047	13376717,NP_079412
5956	129219	Disease	p.Cys203Arg	VAR_009298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009298	- Partial colorblindness protan series (CBP) [MIM:303900]	SWISS	159	pfam00001	9910526,NP_064445
5956	129219	Disease	p.Cys203Arg	VAR_009298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009298	- Partial colorblindness protan series (CBP) [MIM:303900]	SWISS	220	pfam10324	9910526,NP_064445
5956	129219	Disease	p.Pro307Leu	VAR_009299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009299	- Partial colorblindness protan series (CBP) [MIM:303900]	SWISS	415	pfam00001	9910526,NP_064445
5956	129219	Disease	p.Pro307Leu	VAR_009299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009299	- Partial colorblindness protan series (CBP) [MIM:303900]	SWISS	405	pfam10324	9910526,NP_064445
2652	129215	Disease	p.Cys203Arg	VAR_004841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004841	- Partial colorblindness deutan series (CBD) [MIM:303800]	SWISS	No Domain	N/A	114687592,NP_001041646|4503965,NP_000504
611	129203	Disease	p.Gly79Arg	VAR_004838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004838	- Tritan color blindness (tritanopia) [MIM:190900]	SWISS	27	pfam00001	4502387,NP_001699
611	129203	Disease	p.Ser214Pro	VAR_004839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004839	- Tritan color blindness (tritanopia) [MIM:190900]	SWISS	195	pfam00001	4502387,NP_001699
611	129203	Disease	p.Pro264Ser	VAR_004840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004840	- Tritan color blindness (tritanopia) [MIM:190900]	SWISS	381	pfam00001	4502387,NP_001699
10133	62287118	Disease	p.His26Asp	VAR_021537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021537	- Primary open angle glaucoma type 1E (GLC1E) [MIM:137760]	SWISS	No Domain	N/A	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
10133	62287118	Disease	p.Glu50Lys	VAR_021538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021538	rs28939688 Primary open angle glaucoma type 1E (GLC1E) [MIM:137760]	SWISS	14	pfam11577	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
10133	62287118	Disease	p.Glu103Asp	VAR_021540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021540	- Primary open angle glaucoma type 1E (GLC1E) [MIM:137760]	SWISS	67	pfam11577	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
10133	62287118	Disease	p.Glu478Gly	VAR_063597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063597	- Amyotrophic lateral sclerosis type 12 (ALS12) [MIM:613435]	SWISS	No Domain	N/A	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
10133	62287118	Disease	p.His486Arg	VAR_021546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021546	- Primary open angle glaucoma type 1E (GLC1E) [MIM:137760]	SWISS	No Domain	N/A	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
10133	62287118	Disease	p.Arg545Gln	VAR_021547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021547	rs28939689 Primary open angle glaucoma type 1E (GLC1E) [MIM:137760]	SWISS	No Domain	N/A	56549107,NP_001008212|20149572,NP_068815|56549109,NP_001008213|56549111,NP_001008214
84876	97180269	Disease	p.Arg91Trp	VAR_026226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026226	- Immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1) [MIM:612782]	SWISS	29	pfam07856	38016943,NP_116179
9180	74724833	Disease	p.Gly618Ala	VAR_043513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043513	- Amyloidosis type 9 (AMYL9) [MIM:105250]	SWISS	No Domain	N/A	4557040,NP_003990
9180	74724833	Disease	p.Ile691Thr	VAR_043514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043514	- Amyloidosis type 9 (AMYL9) [MIM:105250]	SWISS	111	cd00063	4557040,NP_003990
9180	74724833	Disease	p.Ile691Thr	VAR_043514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043514	- Amyloidosis type 9 (AMYL9) [MIM:105250]	SWISS	148	smart00060	4557040,NP_003990
5009	84028235	Disease	p.Arg26Gln	VAR_004843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004843	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	No Domain	N/A	38788445,NP_000522
5009	84028235	Disease	p.Gly39Cys	VAR_004844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004844	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	7	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Gly39Cys	VAR_004844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004844	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	6	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Arg40Cys	VAR_004845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004845	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	8	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Arg40Cys	VAR_004845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004845	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	7	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Arg40His	VAR_004846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004846	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	8	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Arg40His	VAR_004846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004846	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	7	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Thr44Ile	VAR_004848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004848	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	12	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Thr44Ile	VAR_004848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004848	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	11	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Thr44Ile	VAR_004848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004848	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	6	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Leu45Pro	VAR_004849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004849	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	13	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Leu45Pro	VAR_004849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004849	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	12	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Leu45Pro	VAR_004849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004849	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	12	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Leu45Val	VAR_004850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004850	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	13	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Leu45Val	VAR_004850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004850	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	12	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Leu45Val	VAR_004850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004850	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	12	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Asn47Ile	VAR_004852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004852	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	15	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Asn47Ile	VAR_004852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004852	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	14	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Asn47Ile	VAR_004852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004852	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	15	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Gly50Arg	VAR_004853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004853	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	18	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Gly50Arg	VAR_004853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004853	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	17	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Gly50Arg	VAR_004853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004853	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	21	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Tyr55Asp	VAR_004854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004854	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	23	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Tyr55Asp	VAR_004854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004854	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	22	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Tyr55Asp	VAR_004854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004854	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	26	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Met56Thr	VAR_004855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004855	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	24	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Met56Thr	VAR_004855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004855	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	23	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Met56Thr	VAR_004855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004855	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	27	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Ser60Leu	VAR_004856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004856	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	28	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Ser60Leu	VAR_004856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004856	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	27	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Ser60Leu	VAR_004856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004856	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	31	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Leu63Pro	VAR_004857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004857	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	31	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Leu63Pro	VAR_004857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004857	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	30	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Leu63Pro	VAR_004857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004857	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	34	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Gly79Glu	VAR_004858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004858	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	50	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Gly79Glu	VAR_004858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004858	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	51	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Gly79Glu	VAR_004858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004858	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	79	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Gly83Asp	VAR_004860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004860	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	56	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Gly83Asp	VAR_004860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004860	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	55	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Gly83Asp	VAR_004860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004860	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	84	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Gly83Arg	VAR_004861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004861	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	56	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Gly83Arg	VAR_004861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004861	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	55	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Gly83Arg	VAR_004861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004861	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	84	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Glu87Lys	VAR_004862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004862	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	60	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Glu87Lys	VAR_004862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004862	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	59	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Glu87Lys	VAR_004862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004862	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	88	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Lys88Asn	VAR_004863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004863	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	61	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Lys88Asn	VAR_004863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004863	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	60	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Lys88Asn	VAR_004863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004863	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	89	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Ser90Arg	VAR_004864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004864	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	63	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Ser90Arg	VAR_004864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004864	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	62	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Ser90Arg	VAR_004864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004864	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	91	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Arg92Gln	VAR_004865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004865	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	65	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Arg92Gln	VAR_004865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004865	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	64	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Arg92Gln	VAR_004865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004865	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	93	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Thr93Ala	VAR_004866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004866	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	66	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Thr93Ala	VAR_004866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004866	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	65	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Thr93Ala	VAR_004866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004866	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	94	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Arg94Thr	VAR_004867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004867	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	67	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Arg94Thr	VAR_004867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004867	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	66	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Arg94Thr	VAR_004867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004867	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	95	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Gly100Asp	VAR_004868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004868	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	73	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Gly100Asp	VAR_004868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004868	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	72	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Gly100Asp	VAR_004868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004868	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	101	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Ala102Glu	VAR_004870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004870	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	75	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Ala102Glu	VAR_004870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004870	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	74	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Ala102Glu	VAR_004870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004870	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	103	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.His117Leu	VAR_004872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004872	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	83	COG0540	38788445,NP_000522
5009	84028235	Disease	p.His117Leu	VAR_004872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004872	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	101	COG0078	38788445,NP_000522
5009	84028235	Disease	p.His117Leu	VAR_004872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004872	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	141	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.His117Arg	VAR_004873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004873	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	83	COG0540	38788445,NP_000522
5009	84028235	Disease	p.His117Arg	VAR_004873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004873	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	101	COG0078	38788445,NP_000522
5009	84028235	Disease	p.His117Arg	VAR_004873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004873	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	141	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Thr125Met	VAR_004874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004874	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	102	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Thr125Met	VAR_004874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004874	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	109	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Thr125Met	VAR_004874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004874	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	173	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Asp126Gly	VAR_004875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004875	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	103	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Asp126Gly	VAR_004875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004875	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	110	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Asp126Gly	VAR_004875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004875	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	174	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Arg129His	VAR_004876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004876	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	106	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Arg129His	VAR_004876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004876	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	113	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Arg129His	VAR_004876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004876	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	177	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Leu139Ser	VAR_004877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004877	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	118	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Leu139Ser	VAR_004877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004877	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	123	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Leu139Ser	VAR_004877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004877	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	191	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Ala140Pro	VAR_010605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010605	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	119	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Ala140Pro	VAR_010605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010605	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	124	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Ala140Pro	VAR_010605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010605	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	192	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Arg141Pro	VAR_004878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004878	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	120	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Arg141Pro	VAR_004878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004878	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	125	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Arg141Pro	VAR_004878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004878	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	193	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Arg141Gln	VAR_004879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004879	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	120	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Arg141Gln	VAR_004879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004879	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	125	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Arg141Gln	VAR_004879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004879	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	193	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Leu148Phe	VAR_004880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004880	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	127	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Leu148Phe	VAR_004880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004880	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	144	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Leu148Phe	VAR_004880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004880	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	232	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Ile159Thr	VAR_004881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004881	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	152	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Ile159Thr	VAR_004881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004881	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	159	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Ile159Thr	VAR_004881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004881	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	269	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Ile160Ser	VAR_012651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012651	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	153	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Ile160Ser	VAR_012651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012651	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	160	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Ile160Ser	VAR_012651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012651	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	273	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Asn161Ser	VAR_004882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004882	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	154	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Asn161Ser	VAR_004882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004882	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	161	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Asn161Ser	VAR_004882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004882	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	274	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Gly162Arg	VAR_004883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004883	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	158	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Gly162Arg	VAR_004883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004883	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	162	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Gly162Arg	VAR_004883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004883	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	275	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.His168Gln	VAR_004884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004884	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	162	COG0540	38788445,NP_000522
5009	84028235	Disease	p.His168Gln	VAR_004884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004884	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	168	COG0078	38788445,NP_000522
5009	84028235	Disease	p.His168Gln	VAR_004884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004884	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	286	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.His168Arg	VAR_004885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004885	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	162	COG0540	38788445,NP_000522
5009	84028235	Disease	p.His168Arg	VAR_004885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004885	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	168	COG0078	38788445,NP_000522
5009	84028235	Disease	p.His168Arg	VAR_004885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004885	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	286	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Ile172Phe	VAR_009233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009233	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	166	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Ile172Phe	VAR_009233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009233	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	172	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Ile172Phe	VAR_009233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009233	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	290	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Ile172Met	VAR_004886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004886	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	166	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Ile172Met	VAR_004886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004886	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	172	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Ile172Met	VAR_004886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004886	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	290	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Ala174Pro	VAR_004887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004887	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	168	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Ala174Pro	VAR_004887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004887	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	174	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Ala174Pro	VAR_004887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004887	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	292	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Asp175Val	VAR_004888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004888	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	169	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Asp175Val	VAR_004888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004888	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	175	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Asp175Val	VAR_004888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004888	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	293	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Tyr176Cys	VAR_004889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004889	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	170	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Tyr176Cys	VAR_004889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004889	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	176	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Tyr176Cys	VAR_004889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004889	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	294	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Thr178Met	VAR_004890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004890	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	172	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Thr178Met	VAR_004890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004890	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	178	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Thr178Met	VAR_004890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004890	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	296	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Gln180His	VAR_004892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004892	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	174	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Gln180His	VAR_004892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004892	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	180	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Gln180His	VAR_004892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004892	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	301	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.Glu181Gly	VAR_004893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004893	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	175	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Glu181Gly	VAR_004893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004893	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	181	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Glu181Gly	VAR_004893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004893	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	302	pfam02729	38788445,NP_000522
5009	84028235	Disease	p.His182Leu	VAR_004894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004894	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	176	COG0540	38788445,NP_000522
5009	84028235	Disease	p.His182Leu	VAR_004894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004894	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	182	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Tyr183Cys	VAR_004895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004895	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	177	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Tyr183Cys	VAR_004895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004895	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	183	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Tyr183Asp	VAR_004896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004896	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	177	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Tyr183Asp	VAR_004896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004896	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	183	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Gly188Arg	VAR_004897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004897	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	189	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Gly188Arg	VAR_004897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004897	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	197	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Gly188Arg	VAR_004897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004897	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	2	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Gly188Val	VAR_009234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009234	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	189	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Gly188Val	VAR_009234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009234	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	197	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Gly188Val	VAR_009234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009234	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	2	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Leu191Phe	VAR_012652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012652	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	192	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Leu191Phe	VAR_012652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012652	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	200	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Leu191Phe	VAR_012652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012652	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	6	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Ser192Arg	VAR_004898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004898	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	193	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Ser192Arg	VAR_004898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004898	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	201	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Ser192Arg	VAR_004898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004898	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	7	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Gly195Arg	VAR_004899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004899	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	196	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Gly195Arg	VAR_004899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004899	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	204	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Gly195Arg	VAR_004899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004899	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	10	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Asp196Val	VAR_004900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004900	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	197	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Asp196Val	VAR_004900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004900	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	205	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Asp196Val	VAR_004900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004900	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	11	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Asp196Tyr	VAR_004901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004901	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	197	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Asp196Tyr	VAR_004901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004901	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	205	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Asp196Tyr	VAR_004901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004901	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	11	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Gly197Glu	VAR_004902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004902	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	197_G	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Gly197Glu	VAR_004902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004902	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	206	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Gly197Glu	VAR_004902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004902	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	12	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Gly197Arg	VAR_009235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009235	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	197_G	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Gly197Arg	VAR_009235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009235	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	206	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Gly197Arg	VAR_009235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009235	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	12	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Asn198Lys	VAR_010606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010606	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	197_G	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Asn198Lys	VAR_010606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010606	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	214	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Asn198Lys	VAR_010606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010606	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	20	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Leu201Pro	VAR_004903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004903	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	199	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Leu201Pro	VAR_004903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004903	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	217	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Leu201Pro	VAR_004903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004903	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	23	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.His202Tyr	VAR_004904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004904	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	200	COG0540	38788445,NP_000522
5009	84028235	Disease	p.His202Tyr	VAR_004904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004904	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	218	COG0078	38788445,NP_000522
5009	84028235	Disease	p.His202Tyr	VAR_004904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004904	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	24	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Ser203Cys	VAR_004905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004905	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	206	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Ser203Cys	VAR_004905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004905	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	219	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Ser203Cys	VAR_004905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004905	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	25	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Met206Ile	VAR_012653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012653	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	209	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Met206Ile	VAR_012653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012653	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	222	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Met206Ile	VAR_012653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012653	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	28	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Met206Arg	VAR_004906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004906	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	209	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Met206Arg	VAR_004906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004906	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	222	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Met206Arg	VAR_004906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004906	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	28	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Ser207Arg	VAR_004907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004907	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	210	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Ser207Arg	VAR_004907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004907	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	223	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Ser207Arg	VAR_004907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004907	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	32	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Ala208Thr	VAR_004908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004908	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	211	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Ala208Thr	VAR_004908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004908	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	224	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Ala208Thr	VAR_004908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004908	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	33	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Ala209Val	VAR_004909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004909	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	212	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Ala209Val	VAR_004909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004909	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	225	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Ala209Val	VAR_004909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004909	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	34	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Met213Lys	VAR_004910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004910	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	217	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Met213Lys	VAR_004910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004910	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	229	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Met213Lys	VAR_004910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004910	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	41	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.His214Tyr	VAR_010607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010607	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	218	COG0540	38788445,NP_000522
5009	84028235	Disease	p.His214Tyr	VAR_010607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010607	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	230	COG0078	38788445,NP_000522
5009	84028235	Disease	p.His214Tyr	VAR_010607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010607	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	43	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Gln216Glu	VAR_004911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004911	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	220	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Gln216Glu	VAR_004911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004911	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	232	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Gln216Glu	VAR_004911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004911	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	46	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Pro220Ala	VAR_004912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004912	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	224	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Pro220Ala	VAR_004912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004912	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	236	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Pro220Ala	VAR_004912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004912	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	51	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Pro225Leu	VAR_004913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004913	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	225_G	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Pro225Leu	VAR_004913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004913	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	241	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Pro225Leu	VAR_004913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004913	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	62	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Pro225Arg	VAR_004914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004914	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	225_G	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Pro225Arg	VAR_004914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004914	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	241	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Pro225Arg	VAR_004914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004914	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	62	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Pro225Thr	VAR_004915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004915	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	225_G	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Pro225Thr	VAR_004915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004915	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	241	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Pro225Thr	VAR_004915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004915	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	62	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Thr242Ile	VAR_004916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004916	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	244	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Thr242Ile	VAR_004916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004916	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	266	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Thr242Ile	VAR_004916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004916	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	86	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Leu244Gln	VAR_004917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004917	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	247	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Leu244Gln	VAR_004917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004917	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	268	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Leu244Gln	VAR_004917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004917	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	91	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Thr247Lys	VAR_004918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004918	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	250	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Thr247Lys	VAR_004918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004918	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	271	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Thr247Lys	VAR_004918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004918	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	94	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.His255Pro	VAR_004919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004919	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	259	COG0540	38788445,NP_000522
5009	84028235	Disease	p.His255Pro	VAR_004919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004919	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	279	COG0078	38788445,NP_000522
5009	84028235	Disease	p.His255Pro	VAR_004919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004919	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	108	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Thr262Lys	VAR_010608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010608	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	266_G	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Thr262Lys	VAR_010608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010608	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	286	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Thr262Lys	VAR_010608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010608	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	125	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Asp263Gly	VAR_004920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004920	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	266_G	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Asp263Gly	VAR_004920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004920	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	287	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Asp263Gly	VAR_004920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004920	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	132	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Asp263Asn	VAR_004921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004921	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	266_G	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Asp263Asn	VAR_004921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004921	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	287	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Asp263Asn	VAR_004921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004921	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	132	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Thr264Ala	VAR_004922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004922	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	266_G	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Thr264Ala	VAR_004922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004922	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	288	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Thr264Ala	VAR_004922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004922	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	133	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Thr264Ile	VAR_004923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004923	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	266_G	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Thr264Ile	VAR_004923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004923	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	288	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Thr264Ile	VAR_004923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004923	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	133	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Trp265Leu	VAR_010609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010609	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	267	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Trp265Leu	VAR_010609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010609	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	289	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Trp265Leu	VAR_010609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010609	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	134	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Ser267Arg	VAR_004924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004924	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	269	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Ser267Arg	VAR_004924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004924	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	291	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Ser267Arg	VAR_004924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004924	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	140	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Met268Thr	VAR_004925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004925	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	277	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Met268Thr	VAR_004925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004925	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	292	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Met268Thr	VAR_004925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004925	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	141	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Gly269Glu	VAR_004926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004926	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	278	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Gly269Glu	VAR_004926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004926	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	293	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Gly269Glu	VAR_004926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004926	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	142	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Arg277Gln	VAR_004929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004929	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	288	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Arg277Gln	VAR_004929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004929	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	302	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Arg277Gln	VAR_004929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004929	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	203	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Arg277Trp	VAR_004930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004930	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	288	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Arg277Trp	VAR_004930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004930	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	302	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Arg277Trp	VAR_004930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004930	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	203	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Leu301Phe	VAR_012654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012654	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	314	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Leu301Phe	VAR_012654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012654	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	348	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Leu301Phe	VAR_012654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012654	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	270	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.His302Leu	VAR_004931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004931	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	315	COG0540	38788445,NP_000522
5009	84028235	Disease	p.His302Leu	VAR_004931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004931	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	349	COG0078	38788445,NP_000522
5009	84028235	Disease	p.His302Leu	VAR_004931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004931	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	271	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.His302Gln	VAR_004932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004932	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	315	COG0540	38788445,NP_000522
5009	84028235	Disease	p.His302Gln	VAR_004932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004932	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	349	COG0078	38788445,NP_000522
5009	84028235	Disease	p.His302Gln	VAR_004932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004932	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	271	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.His302Tyr	VAR_004933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004933	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	315	COG0540	38788445,NP_000522
5009	84028235	Disease	p.His302Tyr	VAR_004933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004933	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	349	COG0078	38788445,NP_000522
5009	84028235	Disease	p.His302Tyr	VAR_004933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004933	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	271	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Cys303Arg	VAR_004934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004934	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	316	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Cys303Arg	VAR_004934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004934	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	350	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Cys303Arg	VAR_004934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004934	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	272	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Cys303Tyr	VAR_004935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004935	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	316	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Cys303Tyr	VAR_004935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004935	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	350	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Cys303Tyr	VAR_004935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004935	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	272	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Leu304Phe	VAR_004936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004936	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	317	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Leu304Phe	VAR_004936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004936	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	351	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Leu304Phe	VAR_004936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004936	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	273	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Pro305His	VAR_012655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012655	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	318	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Pro305His	VAR_012655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012655	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	352	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Pro305His	VAR_012655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012655	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	274	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Arg320Leu	VAR_004938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004938	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	334	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Arg320Leu	VAR_004938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004938	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	392	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Arg320Leu	VAR_004938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004938	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	359	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Glu326Lys	VAR_010610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010610	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	341	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Glu326Lys	VAR_010610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010610	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	398	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Glu326Lys	VAR_010610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010610	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	365	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Arg330Gly	VAR_004939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004939	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	345	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Arg330Gly	VAR_004939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004939	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	402	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Arg330Gly	VAR_004939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004939	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	369	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Ala336Ser	VAR_004940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004940	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	351	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Ala336Ser	VAR_004940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004940	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	408	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Ala336Ser	VAR_004940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004940	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	375	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Val337Leu	VAR_004941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004941	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	352	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Val337Leu	VAR_004941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004941	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	409	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Val337Leu	VAR_004941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004941	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	376	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Val339Leu	VAR_004942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004942	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	354	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Val339Leu	VAR_004942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004942	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	411	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Val339Leu	VAR_004942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004942	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	378	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Ser340Pro	VAR_004943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004943	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	355	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Ser340Pro	VAR_004943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004943	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	412	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Ser340Pro	VAR_004943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004943	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	379	pfam00185	38788445,NP_000522
5009	84028235	Disease	p.Leu341Pro	VAR_012657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012657	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	356	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Leu341Pro	VAR_012657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012657	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	413	COG0078	38788445,NP_000522
5009	84028235	Disease	p.Thr343Lys	VAR_004944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004944	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	358	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Tyr345Cys	VAR_004946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004946	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	360	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Tyr345Asp	VAR_004947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004947	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	360	COG0540	38788445,NP_000522
5009	84028235	Disease	p.Phe354Cys	VAR_004948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004948	- Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]	SWISS	No Domain	N/A	38788445,NP_000522
9381	116242695	Disease	p.Gln255His	VAR_046003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046003	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	5	cd04011	34740331,NP_919224
9381	116242695	Disease	p.Gln255His	VAR_046003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046003	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	15	cd00276	34740331,NP_919224
9381	116242695	Disease	p.Pro490Gln	VAR_032228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032228	- Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]	SWISS	142	pfam00168	34740331,NP_919224
9381	116242695	Disease	p.Pro490Gln	VAR_032228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032228	- Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]	SWISS	280	cd00030	34740331,NP_919224
9381	116242695	Disease	p.Pro490Gln	VAR_032228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032228	- Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]	SWISS	77	cd04018	34740331,NP_919224
9381	116242695	Disease	p.Pro490Gln	VAR_032228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032228	- Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]	SWISS	256	smart00239	34740331,NP_919224
9381	116242695	Disease	p.Ile515Thr	VAR_032229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032229	- Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]	SWISS	392	cd00030	34740331,NP_919224
9381	116242695	Disease	p.Ile515Thr	VAR_032229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032229	- Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]	SWISS	104	cd04018	34740331,NP_919224
9381	116242695	Disease	p.Ile515Thr	VAR_032229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032229	- Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]	SWISS	334	smart00239	34740331,NP_919224
9381	116242695	Disease	p.Ile515Thr	VAR_032229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032229	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	392	cd00030	34740331,NP_919224
9381	116242695	Disease	p.Ile515Thr	VAR_032229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032229	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	104	cd04018	34740331,NP_919224
9381	116242695	Disease	p.Ile515Thr	VAR_032229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032229	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	334	smart00239	34740331,NP_919224
9381	116242695	Disease	p.Arg794His	VAR_032232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032232	- Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]	SWISS	No Domain	N/A	34740331,NP_919224
9381	116242695	Disease	p.Arg822Trp	VAR_032233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032233	- Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]	SWISS	No Domain	N/A	34740331,NP_919224
9381	116242695	Disease	p.Ala964Glu	VAR_046004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046004	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	3	cd08675	34740331,NP_919224
9381	116242695	Disease	p.Ala964Glu	VAR_046004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046004	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	3	cd00030	34740331,NP_919224
9381	116242695	Disease	p.Ala964Glu	VAR_046004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046004	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	3	pfam00168	34740331,NP_919224
9381	116242695	Disease	p.Ala964Glu	VAR_046004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046004	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	4	cd04025	34740331,NP_919224
9381	116242695	Disease	p.Ala964Glu	VAR_046004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046004	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	4	smart00239	34740331,NP_919224
9381	116242695	Disease	p.Ala964Glu	VAR_046004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046004	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	5	cd04017	34740331,NP_919224
9381	116242695	Disease	p.Leu1011Pro	VAR_032234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032234	- Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]	SWISS	55	cd08675	34740331,NP_919224
9381	116242695	Disease	p.Leu1011Pro	VAR_032234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032234	- Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]	SWISS	206	cd00030	34740331,NP_919224
9381	116242695	Disease	p.Leu1011Pro	VAR_032234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032234	- Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]	SWISS	132	pfam00168	34740331,NP_919224
9381	116242695	Disease	p.Leu1011Pro	VAR_032234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032234	- Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]	SWISS	51	cd04025	34740331,NP_919224
9381	116242695	Disease	p.Leu1011Pro	VAR_032234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032234	- Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]	SWISS	239	smart00239	34740331,NP_919224
9381	116242695	Disease	p.Leu1011Pro	VAR_032234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032234	- Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]	SWISS	86	cd04017	34740331,NP_919224
9381	116242695	Disease	p.Leu1011Pro	VAR_032234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032234	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	55	cd08675	34740331,NP_919224
9381	116242695	Disease	p.Leu1011Pro	VAR_032234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032234	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	206	cd00030	34740331,NP_919224
9381	116242695	Disease	p.Leu1011Pro	VAR_032234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032234	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	132	pfam00168	34740331,NP_919224
9381	116242695	Disease	p.Leu1011Pro	VAR_032234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032234	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	51	cd04025	34740331,NP_919224
9381	116242695	Disease	p.Leu1011Pro	VAR_032234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032234	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	239	smart00239	34740331,NP_919224
9381	116242695	Disease	p.Leu1011Pro	VAR_032234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032234	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	86	cd04017	34740331,NP_919224
9381	116242695	Disease	p.Leu1138Pro	VAR_046005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046005	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	No Domain	N/A	34740331,NP_919224
9381	116242695	Disease	p.Phe1795Cys	VAR_046008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046008	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	239	smart00239	34740331,NP_919224
9381	116242695	Disease	p.Phe1795Cys	VAR_046008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046008	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	82	cd08374	34740331,NP_919224
9381	116242695	Disease	p.Pro1825Ala	VAR_032239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032239	rs28937591 Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]	SWISS	278	smart00239	34740331,NP_919224
9381	116242695	Disease	p.Pro1825Ala	VAR_032239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032239	rs28937591 Deafness autosomal recessive type 9 (DFNB9) [MIM:601071]	SWISS	130	cd08374	34740331,NP_919224
9381	116242695	Disease	p.Arg1939Gln	VAR_032241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032241	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	No Domain	N/A	34740331,NP_919224
9381	116242695	Disease	p.Pro1987Arg	VAR_032242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032242	- Non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]	SWISS	No Domain	N/A	34740331,NP_919224
5015	417427	Disease	p.Arg89Gly	VAR_029354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029354	- Microphthalmia syndromic type 5 (MCOPS5) [MIM:610125]	SWISS	104	COG5576	27436933,NP_758840
5015	417427	Disease	p.Arg89Gly	VAR_029354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029354	- Microphthalmia syndromic type 5 (MCOPS5) [MIM:610125]	SWISS	61	pfam00046	27436933,NP_758840
5015	417427	Disease	p.Arg89Gly	VAR_029354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029354	- Microphthalmia syndromic type 5 (MCOPS5) [MIM:610125]	SWISS	91	smart00389	27436933,NP_758840
5015	417427	Disease	p.Arg89Gly	VAR_029354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029354	- Microphthalmia syndromic type 5 (MCOPS5) [MIM:610125]	SWISS	83	cd00086	27436933,NP_758840
5015	417427	Disease	p.Pro133Thr	VAR_029355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029355	- Microphthalmia syndromic type 5 (MCOPS5) [MIM:610125]	SWISS	No Domain	N/A	27436933,NP_758840
5015	417427	Disease	p.Pro134Ala	VAR_029356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029356	- Microphthalmia syndromic type 5 (MCOPS5) [MIM:610125]	SWISS	No Domain	N/A	27436933,NP_758840
5019	2492998	Disease	p.Val133Glu	VAR_000696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000696	- Ketoacidosis [MIM:245050]	SWISS	116	pfam01144	4557817,NP_000427
5019	2492998	Disease	p.Val133Glu	VAR_000696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000696	- Ketoacidosis [MIM:245050]	SWISS	118	COG4670	4557817,NP_000427
5019	2492998	Disease	p.Val133Glu	VAR_000696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000696	- Ketoacidosis [MIM:245050]	SWISS	108	COG1788	4557817,NP_000427
5019	2492998	Disease	p.Gly219Glu	VAR_010337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010337	- Ketoacidosis [MIM:245050]	SWISS	218	pfam01144	4557817,NP_000427
5019	2492998	Disease	p.Gly219Glu	VAR_010337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010337	- Ketoacidosis [MIM:245050]	SWISS	213	COG4670	4557817,NP_000427
5019	2492998	Disease	p.Gly219Glu	VAR_010337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010337	- Ketoacidosis [MIM:245050]	SWISS	200	COG1788	4557817,NP_000427
5019	2492998	Disease	p.Val221Met	VAR_010338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010338	- Ketoacidosis [MIM:245050]	SWISS	220	pfam01144	4557817,NP_000427
5019	2492998	Disease	p.Val221Met	VAR_010338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010338	- Ketoacidosis [MIM:245050]	SWISS	215	COG4670	4557817,NP_000427
5019	2492998	Disease	p.Val221Met	VAR_010338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010338	- Ketoacidosis [MIM:245050]	SWISS	202	COG1788	4557817,NP_000427
5019	2492998	Disease	p.Gly324Glu	VAR_010339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010339	- Ketoacidosis [MIM:245050]	SWISS	357	COG4670	4557817,NP_000427
5019	2492998	Disease	p.Gly324Glu	VAR_010339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010339	- Ketoacidosis [MIM:245050]	SWISS	33	COG2057	4557817,NP_000427
5019	2492998	Disease	p.Gly324Glu	VAR_010339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010339	- Ketoacidosis [MIM:245050]	SWISS	28	pfam01144	4557817,NP_000427
5019	2492998	Disease	p.Cys456Phe	VAR_000697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000697	- Ketoacidosis [MIM:245050]	SWISS	506	COG4670	4557817,NP_000427
5019	2492998	Disease	p.Cys456Phe	VAR_000697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000697	- Ketoacidosis [MIM:245050]	SWISS	186	COG2057	4557817,NP_000427
5019	2492998	Disease	p.Cys456Phe	VAR_000697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000697	- Ketoacidosis [MIM:245050]	SWISS	224	pfam01144	4557817,NP_000427
64805	21263835	Disease	p.Arg256Gln	VAR_025383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025383	- Bleeding disorder [MIM:609821]	SWISS	386	pfam00001	29029605,NP_795345|12232483,NP_073625
64805	21263835	Disease	p.Arg265Trp	VAR_025384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025384	- Bleeding disorder [MIM:609821]	SWISS	395	pfam00001	29029605,NP_795345|12232483,NP_073625
5048	1170794	Disease	p.Phe31Ser	VAR_015398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015398	- Lissencephaly type 1 (LIS1) [MIM:607432]	SWISS	26	smart00667	4557741,NP_000421
5048	1170794	Disease	p.Phe31Ser	VAR_015398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015398	- Lissencephaly type 1 (LIS1) [MIM:607432]	SWISS	23	pfam08513	4557741,NP_000421
5048	1170794	Disease	p.Phe31Ser	VAR_015398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015398	- Lissencephaly type 1 (LIS1) [MIM:607432]	SWISS	28	COG2319	4557741,NP_000421
5048	1170794	Disease	p.His149Arg	VAR_007724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007724	- Lissencephaly type 1 (LIS1) [MIM:607432]	SWISS	23	smart00320	4557741,NP_000421
5048	1170794	Disease	p.His149Arg	VAR_007724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007724	- Lissencephaly type 1 (LIS1) [MIM:607432]	SWISS	118	cd00200	4557741,NP_000421
5048	1170794	Disease	p.His149Arg	VAR_007724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007724	- Lissencephaly type 1 (LIS1) [MIM:607432]	SWISS	426	COG2319	4557741,NP_000421
5048	1170794	Disease	p.His149Arg	VAR_007724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007724	- Lissencephaly type 1 (LIS1) [MIM:607432]	SWISS	11	pfam00400	4557741,NP_000421
5048	1170794	Disease	p.Gly162Ser	VAR_015399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015399	rs28936410 Lissencephaly type 1 (LIS1) [MIM:607432]	SWISS	52	smart00320	4557741,NP_000421
5048	1170794	Disease	p.Gly162Ser	VAR_015399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015399	rs28936410 Lissencephaly type 1 (LIS1) [MIM:607432]	SWISS	151	cd00200	4557741,NP_000421
5048	1170794	Disease	p.Gly162Ser	VAR_015399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015399	rs28936410 Lissencephaly type 1 (LIS1) [MIM:607432]	SWISS	460	COG2319	4557741,NP_000421
5048	1170794	Disease	p.Gly162Ser	VAR_015399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015399	rs28936410 Lissencephaly type 1 (LIS1) [MIM:607432]	SWISS	48	pfam00400	4557741,NP_000421
5048	1170794	Disease	p.Ser169Pro	VAR_010203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010203	- Subcortical band heterotopia (SBH) [MIM:607432]	SWISS	101	smart00320	4557741,NP_000421
5048	1170794	Disease	p.Ser169Pro	VAR_010203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010203	- Subcortical band heterotopia (SBH) [MIM:607432]	SWISS	164	cd00200	4557741,NP_000421
5048	1170794	Disease	p.Ser169Pro	VAR_010203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010203	- Subcortical band heterotopia (SBH) [MIM:607432]	SWISS	480	COG2319	4557741,NP_000421
5048	1170794	Disease	p.Ser169Pro	VAR_010203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010203	- Subcortical band heterotopia (SBH) [MIM:607432]	SWISS	55	pfam00400	4557741,NP_000421
5048	1170794	Disease	p.Arg241Pro	VAR_037300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037300	rs28936411 Subcortical band heterotopia (SBH) [MIM:607432]	SWISS	391	cd00200	4557741,NP_000421
5048	1170794	Disease	p.Arg241Pro	VAR_037300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037300	rs28936411 Subcortical band heterotopia (SBH) [MIM:607432]	SWISS	705	COG2319	4557741,NP_000421
5048	1170794	Disease	p.Arg241Pro	VAR_037300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037300	rs28936411 Subcortical band heterotopia (SBH) [MIM:607432]	SWISS	19	pfam00400	4557741,NP_000421
5048	1170794	Disease	p.Arg241Pro	VAR_037300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037300	rs28936411 Subcortical band heterotopia (SBH) [MIM:607432]	SWISS	47	smart00320	4557741,NP_000421
5048	1170794	Disease	p.His277Pro	VAR_037301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037301	- Lissencephaly type 1 (LIS1) [MIM:607432]	SWISS	13	pfam00400	4557741,NP_000421
5048	1170794	Disease	p.His277Pro	VAR_037301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037301	- Lissencephaly type 1 (LIS1) [MIM:607432]	SWISS	521	cd00200	4557741,NP_000421
5048	1170794	Disease	p.His277Pro	VAR_037301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037301	- Lissencephaly type 1 (LIS1) [MIM:607432]	SWISS	794	COG2319	4557741,NP_000421
5048	1170794	Disease	p.His277Pro	VAR_037301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037301	- Lissencephaly type 1 (LIS1) [MIM:607432]	SWISS	25	smart00320	4557741,NP_000421
5048	1170794	Disease	p.Asp317His	VAR_015400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015400	rs28936689 Lissencephaly type 1 (LIS1) [MIM:607432]	SWISS	59	pfam00400	4557741,NP_000421
5048	1170794	Disease	p.Asp317His	VAR_015400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015400	rs28936689 Lissencephaly type 1 (LIS1) [MIM:607432]	SWISS	589	cd00200	4557741,NP_000421
5048	1170794	Disease	p.Asp317His	VAR_015400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015400	rs28936689 Lissencephaly type 1 (LIS1) [MIM:607432]	SWISS	942	COG2319	4557741,NP_000421
5048	1170794	Disease	p.Asp317His	VAR_015400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015400	rs28936689 Lissencephaly type 1 (LIS1) [MIM:607432]	SWISS	105	smart00320	4557741,NP_000421
5053	129973	Disease	p.Ser16Pro	VAR_000869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000869	- Phenylketonuria (PKU) [MIM:261600]	SWISS	No Domain	N/A	4557819,NP_000268
5053	129973	Disease	p.Gln20Leu	VAR_009239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009239	- Hyperphenylalaninemia (HPA) [MIM:261600]	SWISS	No Domain	N/A	4557819,NP_000268
5053	129973	Disease	p.Phe39Leu	VAR_000870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000870	- Phenylketonuria (PKU) [MIM:261600]	SWISS	5	cd04929	4557819,NP_000268
5053	129973	Disease	p.Phe39Leu	VAR_000870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000870	- Phenylketonuria (PKU) [MIM:261600]	SWISS	5	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Phe39Leu	VAR_000870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000870	- Phenylketonuria (PKU) [MIM:261600]	SWISS	5	cd04904	4557819,NP_000268
5053	129973	Disease	p.Phe39Leu	VAR_000870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000870	- Phenylketonuria (PKU) [MIM:261600]	SWISS	19	cd04931	4557819,NP_000268
5053	129973	Disease	p.Phe39Leu	VAR_000870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000870	- Phenylketonuria (PKU) [MIM:261600]	SWISS	4	cd04880	4557819,NP_000268
5053	129973	Disease	p.Phe39Leu	VAR_000870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000870	- Phenylketonuria (PKU) [MIM:261600]	SWISS	6	cd04905	4557819,NP_000268
5053	129973	Disease	p.Phe39Leu	VAR_000870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000870	- Phenylketonuria (PKU) [MIM:261600]	SWISS	3	cd02116	4557819,NP_000268
5053	129973	Disease	p.Ser40Leu	VAR_000872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000872	- Phenylketonuria (PKU) [MIM:261600]	SWISS	6	cd04929	4557819,NP_000268
5053	129973	Disease	p.Ser40Leu	VAR_000872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000872	- Phenylketonuria (PKU) [MIM:261600]	SWISS	10	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Ser40Leu	VAR_000872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000872	- Phenylketonuria (PKU) [MIM:261600]	SWISS	6	cd04904	4557819,NP_000268
5053	129973	Disease	p.Ser40Leu	VAR_000872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000872	- Phenylketonuria (PKU) [MIM:261600]	SWISS	20	cd04931	4557819,NP_000268
5053	129973	Disease	p.Ser40Leu	VAR_000872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000872	- Phenylketonuria (PKU) [MIM:261600]	SWISS	5	cd04880	4557819,NP_000268
5053	129973	Disease	p.Ser40Leu	VAR_000872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000872	- Phenylketonuria (PKU) [MIM:261600]	SWISS	7	cd04905	4557819,NP_000268
5053	129973	Disease	p.Ser40Leu	VAR_000872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000872	- Phenylketonuria (PKU) [MIM:261600]	SWISS	4	cd02116	4557819,NP_000268
5053	129973	Disease	p.Leu41Phe	VAR_000873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000873	- Phenylketonuria (PKU) [MIM:261600]	SWISS	7	cd04929	4557819,NP_000268
5053	129973	Disease	p.Leu41Phe	VAR_000873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000873	- Phenylketonuria (PKU) [MIM:261600]	SWISS	11	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Leu41Phe	VAR_000873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000873	- Phenylketonuria (PKU) [MIM:261600]	SWISS	7	cd04904	4557819,NP_000268
5053	129973	Disease	p.Leu41Phe	VAR_000873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000873	- Phenylketonuria (PKU) [MIM:261600]	SWISS	21	cd04931	4557819,NP_000268
5053	129973	Disease	p.Leu41Phe	VAR_000873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000873	- Phenylketonuria (PKU) [MIM:261600]	SWISS	6	cd04880	4557819,NP_000268
5053	129973	Disease	p.Leu41Phe	VAR_000873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000873	- Phenylketonuria (PKU) [MIM:261600]	SWISS	8	cd04905	4557819,NP_000268
5053	129973	Disease	p.Leu41Phe	VAR_000873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000873	- Phenylketonuria (PKU) [MIM:261600]	SWISS	5	cd02116	4557819,NP_000268
5053	129973	Disease	p.Leu41Pro	VAR_009240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009240	- Phenylketonuria (PKU) [MIM:261600]	SWISS	7	cd04929	4557819,NP_000268
5053	129973	Disease	p.Leu41Pro	VAR_009240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009240	- Phenylketonuria (PKU) [MIM:261600]	SWISS	11	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Leu41Pro	VAR_009240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009240	- Phenylketonuria (PKU) [MIM:261600]	SWISS	7	cd04904	4557819,NP_000268
5053	129973	Disease	p.Leu41Pro	VAR_009240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009240	- Phenylketonuria (PKU) [MIM:261600]	SWISS	21	cd04931	4557819,NP_000268
5053	129973	Disease	p.Leu41Pro	VAR_009240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009240	- Phenylketonuria (PKU) [MIM:261600]	SWISS	6	cd04880	4557819,NP_000268
5053	129973	Disease	p.Leu41Pro	VAR_009240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009240	- Phenylketonuria (PKU) [MIM:261600]	SWISS	8	cd04905	4557819,NP_000268
5053	129973	Disease	p.Leu41Pro	VAR_009240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009240	- Phenylketonuria (PKU) [MIM:261600]	SWISS	5	cd02116	4557819,NP_000268
5053	129973	Disease	p.Lys42Ile	VAR_000874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000874	- Phenylketonuria (PKU) [MIM:261600]	SWISS	8	cd04929	4557819,NP_000268
5053	129973	Disease	p.Lys42Ile	VAR_000874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000874	- Phenylketonuria (PKU) [MIM:261600]	SWISS	12	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Lys42Ile	VAR_000874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000874	- Phenylketonuria (PKU) [MIM:261600]	SWISS	8	cd04904	4557819,NP_000268
5053	129973	Disease	p.Lys42Ile	VAR_000874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000874	- Phenylketonuria (PKU) [MIM:261600]	SWISS	22	cd04931	4557819,NP_000268
5053	129973	Disease	p.Lys42Ile	VAR_000874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000874	- Phenylketonuria (PKU) [MIM:261600]	SWISS	7	cd04880	4557819,NP_000268
5053	129973	Disease	p.Lys42Ile	VAR_000874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000874	- Phenylketonuria (PKU) [MIM:261600]	SWISS	9	cd04905	4557819,NP_000268
5053	129973	Disease	p.Lys42Ile	VAR_000874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000874	- Phenylketonuria (PKU) [MIM:261600]	SWISS	6	cd02116	4557819,NP_000268
5053	129973	Disease	p.Gly46Ser	VAR_000875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000875	- Phenylketonuria (PKU) [MIM:261600]	SWISS	12	cd04929	4557819,NP_000268
5053	129973	Disease	p.Gly46Ser	VAR_000875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000875	- Phenylketonuria (PKU) [MIM:261600]	SWISS	18	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Gly46Ser	VAR_000875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000875	- Phenylketonuria (PKU) [MIM:261600]	SWISS	15	cd04904	4557819,NP_000268
5053	129973	Disease	p.Gly46Ser	VAR_000875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000875	- Phenylketonuria (PKU) [MIM:261600]	SWISS	26	cd04931	4557819,NP_000268
5053	129973	Disease	p.Gly46Ser	VAR_000875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000875	- Phenylketonuria (PKU) [MIM:261600]	SWISS	14	cd04880	4557819,NP_000268
5053	129973	Disease	p.Gly46Ser	VAR_000875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000875	- Phenylketonuria (PKU) [MIM:261600]	SWISS	16	cd04905	4557819,NP_000268
5053	129973	Disease	p.Gly46Ser	VAR_000875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000875	- Phenylketonuria (PKU) [MIM:261600]	SWISS	14	cd02116	4557819,NP_000268
5053	129973	Disease	p.Ala47Val	VAR_000876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000876	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	13	cd04929	4557819,NP_000268
5053	129973	Disease	p.Ala47Val	VAR_000876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000876	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	19	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Ala47Val	VAR_000876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000876	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	16	cd04904	4557819,NP_000268
5053	129973	Disease	p.Ala47Val	VAR_000876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000876	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	27	cd04931	4557819,NP_000268
5053	129973	Disease	p.Ala47Val	VAR_000876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000876	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	15	cd04880	4557819,NP_000268
5053	129973	Disease	p.Ala47Val	VAR_000876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000876	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	17	cd04905	4557819,NP_000268
5053	129973	Disease	p.Ala47Val	VAR_000876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000876	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	15	cd02116	4557819,NP_000268
5053	129973	Disease	p.Leu48Ser	VAR_000877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000877	- Phenylketonuria (PKU) [MIM:261600]	SWISS	14	cd04929	4557819,NP_000268
5053	129973	Disease	p.Leu48Ser	VAR_000877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000877	- Phenylketonuria (PKU) [MIM:261600]	SWISS	20	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Leu48Ser	VAR_000877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000877	- Phenylketonuria (PKU) [MIM:261600]	SWISS	17	cd04904	4557819,NP_000268
5053	129973	Disease	p.Leu48Ser	VAR_000877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000877	- Phenylketonuria (PKU) [MIM:261600]	SWISS	28	cd04931	4557819,NP_000268
5053	129973	Disease	p.Leu48Ser	VAR_000877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000877	- Phenylketonuria (PKU) [MIM:261600]	SWISS	16	cd04880	4557819,NP_000268
5053	129973	Disease	p.Leu48Ser	VAR_000877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000877	- Phenylketonuria (PKU) [MIM:261600]	SWISS	18	cd04905	4557819,NP_000268
5053	129973	Disease	p.Leu48Ser	VAR_000877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000877	- Phenylketonuria (PKU) [MIM:261600]	SWISS	16	cd02116	4557819,NP_000268
5053	129973	Disease	p.Arg53His	VAR_000878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000878	- Phenylketonuria (PKU) [MIM:261600]	SWISS	19	cd04929	4557819,NP_000268
5053	129973	Disease	p.Arg53His	VAR_000878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000878	- Phenylketonuria (PKU) [MIM:261600]	SWISS	25	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Arg53His	VAR_000878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000878	- Phenylketonuria (PKU) [MIM:261600]	SWISS	22	cd04904	4557819,NP_000268
5053	129973	Disease	p.Arg53His	VAR_000878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000878	- Phenylketonuria (PKU) [MIM:261600]	SWISS	33	cd04931	4557819,NP_000268
5053	129973	Disease	p.Arg53His	VAR_000878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000878	- Phenylketonuria (PKU) [MIM:261600]	SWISS	21	cd04880	4557819,NP_000268
5053	129973	Disease	p.Arg53His	VAR_000878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000878	- Phenylketonuria (PKU) [MIM:261600]	SWISS	23	cd04905	4557819,NP_000268
5053	129973	Disease	p.Arg53His	VAR_000878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000878	- Phenylketonuria (PKU) [MIM:261600]	SWISS	21	cd02116	4557819,NP_000268
5053	129973	Disease	p.Phe55Leu	VAR_000879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000879	- Phenylketonuria (PKU) [MIM:261600]	SWISS	21	cd04929	4557819,NP_000268
5053	129973	Disease	p.Phe55Leu	VAR_000879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000879	- Phenylketonuria (PKU) [MIM:261600]	SWISS	27	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Phe55Leu	VAR_000879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000879	- Phenylketonuria (PKU) [MIM:261600]	SWISS	24	cd04904	4557819,NP_000268
5053	129973	Disease	p.Phe55Leu	VAR_000879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000879	- Phenylketonuria (PKU) [MIM:261600]	SWISS	35	cd04931	4557819,NP_000268
5053	129973	Disease	p.Phe55Leu	VAR_000879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000879	- Phenylketonuria (PKU) [MIM:261600]	SWISS	23	cd04880	4557819,NP_000268
5053	129973	Disease	p.Phe55Leu	VAR_000879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000879	- Phenylketonuria (PKU) [MIM:261600]	SWISS	25	cd04905	4557819,NP_000268
5053	129973	Disease	p.Phe55Leu	VAR_000879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000879	- Phenylketonuria (PKU) [MIM:261600]	SWISS	23	cd02116	4557819,NP_000268
5053	129973	Disease	p.Glu56Asp	VAR_000880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000880	- Phenylketonuria (PKU) [MIM:261600]	SWISS	22	cd04929	4557819,NP_000268
5053	129973	Disease	p.Glu56Asp	VAR_000880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000880	- Phenylketonuria (PKU) [MIM:261600]	SWISS	28	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Glu56Asp	VAR_000880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000880	- Phenylketonuria (PKU) [MIM:261600]	SWISS	25	cd04904	4557819,NP_000268
5053	129973	Disease	p.Glu56Asp	VAR_000880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000880	- Phenylketonuria (PKU) [MIM:261600]	SWISS	36	cd04931	4557819,NP_000268
5053	129973	Disease	p.Glu56Asp	VAR_000880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000880	- Phenylketonuria (PKU) [MIM:261600]	SWISS	24	cd04880	4557819,NP_000268
5053	129973	Disease	p.Glu56Asp	VAR_000880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000880	- Phenylketonuria (PKU) [MIM:261600]	SWISS	26	cd04905	4557819,NP_000268
5053	129973	Disease	p.Glu56Asp	VAR_000880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000880	- Phenylketonuria (PKU) [MIM:261600]	SWISS	24	cd02116	4557819,NP_000268
5053	129973	Disease	p.Ile65Asn	VAR_000882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000882	- Phenylketonuria (PKU) [MIM:261600]	SWISS	31	cd04929	4557819,NP_000268
5053	129973	Disease	p.Ile65Asn	VAR_000882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000882	- Phenylketonuria (PKU) [MIM:261600]	SWISS	37	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Ile65Asn	VAR_000882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000882	- Phenylketonuria (PKU) [MIM:261600]	SWISS	34	cd04904	4557819,NP_000268
5053	129973	Disease	p.Ile65Asn	VAR_000882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000882	- Phenylketonuria (PKU) [MIM:261600]	SWISS	45	cd04931	4557819,NP_000268
5053	129973	Disease	p.Ile65Asn	VAR_000882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000882	- Phenylketonuria (PKU) [MIM:261600]	SWISS	33	cd04880	4557819,NP_000268
5053	129973	Disease	p.Ile65Asn	VAR_000882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000882	- Phenylketonuria (PKU) [MIM:261600]	SWISS	35	cd04905	4557819,NP_000268
5053	129973	Disease	p.Ile65Asn	VAR_000882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000882	- Phenylketonuria (PKU) [MIM:261600]	SWISS	34	cd02116	4557819,NP_000268
5053	129973	Disease	p.Ile65Thr	VAR_000883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000883	- Phenylketonuria (PKU) [MIM:261600]	SWISS	31	cd04929	4557819,NP_000268
5053	129973	Disease	p.Ile65Thr	VAR_000883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000883	- Phenylketonuria (PKU) [MIM:261600]	SWISS	37	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Ile65Thr	VAR_000883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000883	- Phenylketonuria (PKU) [MIM:261600]	SWISS	34	cd04904	4557819,NP_000268
5053	129973	Disease	p.Ile65Thr	VAR_000883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000883	- Phenylketonuria (PKU) [MIM:261600]	SWISS	45	cd04931	4557819,NP_000268
5053	129973	Disease	p.Ile65Thr	VAR_000883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000883	- Phenylketonuria (PKU) [MIM:261600]	SWISS	33	cd04880	4557819,NP_000268
5053	129973	Disease	p.Ile65Thr	VAR_000883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000883	- Phenylketonuria (PKU) [MIM:261600]	SWISS	35	cd04905	4557819,NP_000268
5053	129973	Disease	p.Ile65Thr	VAR_000883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000883	- Phenylketonuria (PKU) [MIM:261600]	SWISS	34	cd02116	4557819,NP_000268
5053	129973	Disease	p.Ser67Pro	VAR_000884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000884	- Phenylketonuria (PKU) [MIM:261600]	SWISS	33	cd04929	4557819,NP_000268
5053	129973	Disease	p.Ser67Pro	VAR_000884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000884	- Phenylketonuria (PKU) [MIM:261600]	SWISS	39	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Ser67Pro	VAR_000884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000884	- Phenylketonuria (PKU) [MIM:261600]	SWISS	36	cd04904	4557819,NP_000268
5053	129973	Disease	p.Ser67Pro	VAR_000884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000884	- Phenylketonuria (PKU) [MIM:261600]	SWISS	47	cd04931	4557819,NP_000268
5053	129973	Disease	p.Ser67Pro	VAR_000884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000884	- Phenylketonuria (PKU) [MIM:261600]	SWISS	35	cd04880	4557819,NP_000268
5053	129973	Disease	p.Ser67Pro	VAR_000884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000884	- Phenylketonuria (PKU) [MIM:261600]	SWISS	37	cd04905	4557819,NP_000268
5053	129973	Disease	p.Ser67Pro	VAR_000884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000884	- Phenylketonuria (PKU) [MIM:261600]	SWISS	36	cd02116	4557819,NP_000268
5053	129973	Disease	p.Arg68Ser	VAR_000885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000885	- Phenylketonuria (PKU) [MIM:261600]	SWISS	34	cd04929	4557819,NP_000268
5053	129973	Disease	p.Arg68Ser	VAR_000885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000885	- Phenylketonuria (PKU) [MIM:261600]	SWISS	40	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Arg68Ser	VAR_000885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000885	- Phenylketonuria (PKU) [MIM:261600]	SWISS	37	cd04904	4557819,NP_000268
5053	129973	Disease	p.Arg68Ser	VAR_000885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000885	- Phenylketonuria (PKU) [MIM:261600]	SWISS	48	cd04931	4557819,NP_000268
5053	129973	Disease	p.Arg68Ser	VAR_000885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000885	- Phenylketonuria (PKU) [MIM:261600]	SWISS	36	cd04880	4557819,NP_000268
5053	129973	Disease	p.Arg68Ser	VAR_000885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000885	- Phenylketonuria (PKU) [MIM:261600]	SWISS	38	cd04905	4557819,NP_000268
5053	129973	Disease	p.Arg68Ser	VAR_000885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000885	- Phenylketonuria (PKU) [MIM:261600]	SWISS	37	cd02116	4557819,NP_000268
5053	129973	Disease	p.Glu76Ala	VAR_000886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000886	- Phenylketonuria (PKU) [MIM:261600]	SWISS	42	cd04929	4557819,NP_000268
5053	129973	Disease	p.Glu76Ala	VAR_000886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000886	- Phenylketonuria (PKU) [MIM:261600]	SWISS	57	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Glu76Ala	VAR_000886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000886	- Phenylketonuria (PKU) [MIM:261600]	SWISS	49	cd04904	4557819,NP_000268
5053	129973	Disease	p.Glu76Ala	VAR_000886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000886	- Phenylketonuria (PKU) [MIM:261600]	SWISS	56	cd04931	4557819,NP_000268
5053	129973	Disease	p.Glu76Ala	VAR_000886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000886	- Phenylketonuria (PKU) [MIM:261600]	SWISS	58	cd04880	4557819,NP_000268
5053	129973	Disease	p.Glu76Ala	VAR_000886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000886	- Phenylketonuria (PKU) [MIM:261600]	SWISS	60	cd04905	4557819,NP_000268
5053	129973	Disease	p.Glu76Ala	VAR_000886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000886	- Phenylketonuria (PKU) [MIM:261600]	SWISS	61	cd02116	4557819,NP_000268
5053	129973	Disease	p.Asp84Tyr	VAR_000887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000887	- Phenylketonuria (PKU) [MIM:261600]	SWISS	50	cd04929	4557819,NP_000268
5053	129973	Disease	p.Asp84Tyr	VAR_000887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000887	- Phenylketonuria (PKU) [MIM:261600]	SWISS	65	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Asp84Tyr	VAR_000887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000887	- Phenylketonuria (PKU) [MIM:261600]	SWISS	57	cd04904	4557819,NP_000268
5053	129973	Disease	p.Asp84Tyr	VAR_000887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000887	- Phenylketonuria (PKU) [MIM:261600]	SWISS	64	cd04931	4557819,NP_000268
5053	129973	Disease	p.Asp84Tyr	VAR_000887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000887	- Phenylketonuria (PKU) [MIM:261600]	SWISS	66	cd04880	4557819,NP_000268
5053	129973	Disease	p.Asp84Tyr	VAR_000887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000887	- Phenylketonuria (PKU) [MIM:261600]	SWISS	68	cd04905	4557819,NP_000268
5053	129973	Disease	p.Asp84Tyr	VAR_000887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000887	- Phenylketonuria (PKU) [MIM:261600]	SWISS	69	cd02116	4557819,NP_000268
5053	129973	Disease	p.Ser87Arg	VAR_000888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000888	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	53	cd04929	4557819,NP_000268
5053	129973	Disease	p.Ser87Arg	VAR_000888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000888	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	68	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Ser87Arg	VAR_000888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000888	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	61	cd04904	4557819,NP_000268
5053	129973	Disease	p.Ser87Arg	VAR_000888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000888	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	67	cd04931	4557819,NP_000268
5053	129973	Disease	p.Ser87Arg	VAR_000888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000888	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	73	cd04880	4557819,NP_000268
5053	129973	Disease	p.Ser87Arg	VAR_000888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000888	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	75	cd04905	4557819,NP_000268
5053	129973	Disease	p.Ser87Arg	VAR_000888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000888	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	72	cd02116	4557819,NP_000268
5053	129973	Disease	p.Thr92Ile	VAR_000889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000889	- Phenylketonuria (PKU) [MIM:261600]	SWISS	57	cd04929	4557819,NP_000268
5053	129973	Disease	p.Thr92Ile	VAR_000889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000889	- Phenylketonuria (PKU) [MIM:261600]	SWISS	73	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Thr92Ile	VAR_000889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000889	- Phenylketonuria (PKU) [MIM:261600]	SWISS	66	cd04904	4557819,NP_000268
5053	129973	Disease	p.Thr92Ile	VAR_000889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000889	- Phenylketonuria (PKU) [MIM:261600]	SWISS	72	cd04931	4557819,NP_000268
5053	129973	Disease	p.Thr92Ile	VAR_000889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000889	- Phenylketonuria (PKU) [MIM:261600]	SWISS	78	cd04880	4557819,NP_000268
5053	129973	Disease	p.Thr92Ile	VAR_000889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000889	- Phenylketonuria (PKU) [MIM:261600]	SWISS	80	cd04905	4557819,NP_000268
5053	129973	Disease	p.Thr92Ile	VAR_000889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000889	- Phenylketonuria (PKU) [MIM:261600]	SWISS	97	cd02116	4557819,NP_000268
5053	129973	Disease	p.Leu98Ser	VAR_000891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000891	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	63	cd04929	4557819,NP_000268
5053	129973	Disease	p.Leu98Ser	VAR_000891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000891	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	79	pfam01842	4557819,NP_000268
5053	129973	Disease	p.Leu98Ser	VAR_000891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000891	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	72	cd04904	4557819,NP_000268
5053	129973	Disease	p.Leu98Ser	VAR_000891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000891	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	78	cd04931	4557819,NP_000268
5053	129973	Disease	p.Leu98Ser	VAR_000891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000891	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	84	cd04880	4557819,NP_000268
5053	129973	Disease	p.Leu98Ser	VAR_000891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000891	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	86	cd04905	4557819,NP_000268
5053	129973	Disease	p.Leu98Ser	VAR_000891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000891	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	103	cd02116	4557819,NP_000268
5053	129973	Disease	p.Ala104Asp	VAR_000892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000892	- Phenylketonuria (PKU) [MIM:261600]	SWISS	69	cd04929	4557819,NP_000268
5053	129973	Disease	p.Ala104Asp	VAR_000892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000892	- Phenylketonuria (PKU) [MIM:261600]	SWISS	80	cd04904	4557819,NP_000268
5053	129973	Disease	p.Ala104Asp	VAR_000892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000892	- Phenylketonuria (PKU) [MIM:261600]	SWISS	84	cd04931	4557819,NP_000268
5053	129973	Disease	p.Ala104Asp	VAR_000892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000892	- Phenylketonuria (PKU) [MIM:261600]	SWISS	95	cd04880	4557819,NP_000268
5053	129973	Disease	p.Ala104Asp	VAR_000892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000892	- Phenylketonuria (PKU) [MIM:261600]	SWISS	97	cd04905	4557819,NP_000268
5053	129973	Disease	p.Ser110Cys	VAR_009241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009241	- Hyperphenylalaninemia (HPA) [MIM:261600]	SWISS	No Domain	N/A	4557819,NP_000268
5053	129973	Disease	p.Thr124Ile	VAR_000893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000893	- Phenylketonuria (PKU) [MIM:261600]	SWISS	5	cd03345	4557819,NP_000268
5053	129973	Disease	p.Thr124Ile	VAR_000893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000893	- Phenylketonuria (PKU) [MIM:261600]	SWISS	6	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Thr124Ile	VAR_000893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000893	- Phenylketonuria (PKU) [MIM:261600]	SWISS	6	cd03347	4557819,NP_000268
5053	129973	Disease	p.Thr124Ile	VAR_000893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000893	- Phenylketonuria (PKU) [MIM:261600]	SWISS	6	cd03346	4557819,NP_000268
5053	129973	Disease	p.Asp129Tyr	VAR_000894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000894	- Phenylketonuria (PKU) [MIM:261600]	SWISS	10	cd03345	4557819,NP_000268
5053	129973	Disease	p.Asp129Tyr	VAR_000894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000894	- Phenylketonuria (PKU) [MIM:261600]	SWISS	11	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Asp129Tyr	VAR_000894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000894	- Phenylketonuria (PKU) [MIM:261600]	SWISS	11	cd03347	4557819,NP_000268
5053	129973	Disease	p.Asp129Tyr	VAR_000894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000894	- Phenylketonuria (PKU) [MIM:261600]	SWISS	11	cd03346	4557819,NP_000268
5053	129973	Disease	p.Asp143Gly	VAR_000895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000895	- Phenylketonuria (PKU) [MIM:261600]	SWISS	24	cd03345	4557819,NP_000268
5053	129973	Disease	p.Asp143Gly	VAR_000895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000895	- Phenylketonuria (PKU) [MIM:261600]	SWISS	25	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Asp143Gly	VAR_000895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000895	- Phenylketonuria (PKU) [MIM:261600]	SWISS	25	cd03347	4557819,NP_000268
5053	129973	Disease	p.Asp143Gly	VAR_000895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000895	- Phenylketonuria (PKU) [MIM:261600]	SWISS	25	cd03346	4557819,NP_000268
5053	129973	Disease	p.Asp145Val	VAR_011566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011566	- Phenylketonuria (PKU) [MIM:261600]	SWISS	26	cd03345	4557819,NP_000268
5053	129973	Disease	p.Asp145Val	VAR_011566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011566	- Phenylketonuria (PKU) [MIM:261600]	SWISS	27	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Asp145Val	VAR_011566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011566	- Phenylketonuria (PKU) [MIM:261600]	SWISS	31	cd03347	4557819,NP_000268
5053	129973	Disease	p.Asp145Val	VAR_011566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011566	- Phenylketonuria (PKU) [MIM:261600]	SWISS	27	cd03346	4557819,NP_000268
5053	129973	Disease	p.Asp145Val	VAR_011566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011566	- Phenylketonuria (PKU) [MIM:261600]	SWISS	2	COG3186	4557819,NP_000268
5053	129973	Disease	p.His146Tyr	VAR_000896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000896	- Phenylketonuria (PKU) [MIM:261600]	SWISS	27	cd03345	4557819,NP_000268
5053	129973	Disease	p.His146Tyr	VAR_000896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000896	- Phenylketonuria (PKU) [MIM:261600]	SWISS	28	pfam00351	4557819,NP_000268
5053	129973	Disease	p.His146Tyr	VAR_000896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000896	- Phenylketonuria (PKU) [MIM:261600]	SWISS	32	cd03347	4557819,NP_000268
5053	129973	Disease	p.His146Tyr	VAR_000896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000896	- Phenylketonuria (PKU) [MIM:261600]	SWISS	28	cd03346	4557819,NP_000268
5053	129973	Disease	p.His146Tyr	VAR_000896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000896	- Phenylketonuria (PKU) [MIM:261600]	SWISS	3	COG3186	4557819,NP_000268
5053	129973	Disease	p.Gly148Ser	VAR_000897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000897	- Phenylketonuria (PKU) [MIM:261600]	SWISS	29	cd03345	4557819,NP_000268
5053	129973	Disease	p.Gly148Ser	VAR_000897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000897	- Phenylketonuria (PKU) [MIM:261600]	SWISS	30	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Gly148Ser	VAR_000897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000897	- Phenylketonuria (PKU) [MIM:261600]	SWISS	34	cd03347	4557819,NP_000268
5053	129973	Disease	p.Gly148Ser	VAR_000897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000897	- Phenylketonuria (PKU) [MIM:261600]	SWISS	30	cd03346	4557819,NP_000268
5053	129973	Disease	p.Gly148Ser	VAR_000897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000897	- Phenylketonuria (PKU) [MIM:261600]	SWISS	5	COG3186	4557819,NP_000268
5053	129973	Disease	p.Asp151His	VAR_000898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000898	- Phenylketonuria (PKU) [MIM:261600]	SWISS	32	cd03345	4557819,NP_000268
5053	129973	Disease	p.Asp151His	VAR_000898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000898	- Phenylketonuria (PKU) [MIM:261600]	SWISS	33	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Asp151His	VAR_000898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000898	- Phenylketonuria (PKU) [MIM:261600]	SWISS	37	cd03347	4557819,NP_000268
5053	129973	Disease	p.Asp151His	VAR_000898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000898	- Phenylketonuria (PKU) [MIM:261600]	SWISS	33	cd03346	4557819,NP_000268
5053	129973	Disease	p.Asp151His	VAR_000898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000898	- Phenylketonuria (PKU) [MIM:261600]	SWISS	8	COG3186	4557819,NP_000268
5053	129973	Disease	p.Tyr154Asn	VAR_000899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000899	- Phenylketonuria (PKU) [MIM:261600]	SWISS	35	cd03345	4557819,NP_000268
5053	129973	Disease	p.Tyr154Asn	VAR_000899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000899	- Phenylketonuria (PKU) [MIM:261600]	SWISS	36	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Tyr154Asn	VAR_000899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000899	- Phenylketonuria (PKU) [MIM:261600]	SWISS	40	cd03347	4557819,NP_000268
5053	129973	Disease	p.Tyr154Asn	VAR_000899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000899	- Phenylketonuria (PKU) [MIM:261600]	SWISS	36	cd03346	4557819,NP_000268
5053	129973	Disease	p.Tyr154Asn	VAR_000899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000899	- Phenylketonuria (PKU) [MIM:261600]	SWISS	11	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg155Pro	VAR_009242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009242	- Phenylketonuria (PKU) [MIM:261600]	SWISS	36	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg155Pro	VAR_009242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009242	- Phenylketonuria (PKU) [MIM:261600]	SWISS	37	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg155Pro	VAR_009242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009242	- Phenylketonuria (PKU) [MIM:261600]	SWISS	41	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg155Pro	VAR_009242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009242	- Phenylketonuria (PKU) [MIM:261600]	SWISS	37	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg155Pro	VAR_009242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009242	- Phenylketonuria (PKU) [MIM:261600]	SWISS	12	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg157Asn	VAR_000900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000900	- Phenylketonuria (PKU) [MIM:261600]	SWISS	38	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg157Asn	VAR_000900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000900	- Phenylketonuria (PKU) [MIM:261600]	SWISS	39	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg157Asn	VAR_000900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000900	- Phenylketonuria (PKU) [MIM:261600]	SWISS	43	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg157Asn	VAR_000900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000900	- Phenylketonuria (PKU) [MIM:261600]	SWISS	39	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg157Asn	VAR_000900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000900	- Phenylketonuria (PKU) [MIM:261600]	SWISS	14	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg158Gln	VAR_000901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000901	- Phenylketonuria (PKU) [MIM:261600]	SWISS	39	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg158Gln	VAR_000901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000901	- Phenylketonuria (PKU) [MIM:261600]	SWISS	40	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg158Gln	VAR_000901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000901	- Phenylketonuria (PKU) [MIM:261600]	SWISS	44	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg158Gln	VAR_000901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000901	- Phenylketonuria (PKU) [MIM:261600]	SWISS	40	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg158Gln	VAR_000901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000901	- Phenylketonuria (PKU) [MIM:261600]	SWISS	22	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg158Trp	VAR_000902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000902	- Phenylketonuria (PKU) [MIM:261600]	SWISS	39	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg158Trp	VAR_000902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000902	- Phenylketonuria (PKU) [MIM:261600]	SWISS	40	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg158Trp	VAR_000902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000902	- Phenylketonuria (PKU) [MIM:261600]	SWISS	44	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg158Trp	VAR_000902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000902	- Phenylketonuria (PKU) [MIM:261600]	SWISS	40	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg158Trp	VAR_000902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000902	- Phenylketonuria (PKU) [MIM:261600]	SWISS	22	COG3186	4557819,NP_000268
5053	129973	Disease	p.Gln160Pro	VAR_000903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000903	- Phenylketonuria (PKU) [MIM:261600]	SWISS	41	cd03345	4557819,NP_000268
5053	129973	Disease	p.Gln160Pro	VAR_000903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000903	- Phenylketonuria (PKU) [MIM:261600]	SWISS	42	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Gln160Pro	VAR_000903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000903	- Phenylketonuria (PKU) [MIM:261600]	SWISS	46	cd03347	4557819,NP_000268
5053	129973	Disease	p.Gln160Pro	VAR_000903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000903	- Phenylketonuria (PKU) [MIM:261600]	SWISS	42	cd03346	4557819,NP_000268
5053	129973	Disease	p.Gln160Pro	VAR_000903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000903	- Phenylketonuria (PKU) [MIM:261600]	SWISS	24	COG3186	4557819,NP_000268
5053	129973	Disease	p.Phe161Ser	VAR_000904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000904	- Phenylketonuria (PKU) [MIM:261600]	SWISS	42	cd03345	4557819,NP_000268
5053	129973	Disease	p.Phe161Ser	VAR_000904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000904	- Phenylketonuria (PKU) [MIM:261600]	SWISS	43	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Phe161Ser	VAR_000904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000904	- Phenylketonuria (PKU) [MIM:261600]	SWISS	47	cd03347	4557819,NP_000268
5053	129973	Disease	p.Phe161Ser	VAR_000904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000904	- Phenylketonuria (PKU) [MIM:261600]	SWISS	43	cd03346	4557819,NP_000268
5053	129973	Disease	p.Phe161Ser	VAR_000904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000904	- Phenylketonuria (PKU) [MIM:261600]	SWISS	25	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ile164Thr	VAR_000905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000905	- Phenylketonuria (PKU) [MIM:261600]	SWISS	45	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ile164Thr	VAR_000905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000905	- Phenylketonuria (PKU) [MIM:261600]	SWISS	46	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ile164Thr	VAR_000905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000905	- Phenylketonuria (PKU) [MIM:261600]	SWISS	50	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ile164Thr	VAR_000905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000905	- Phenylketonuria (PKU) [MIM:261600]	SWISS	46	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ile164Thr	VAR_000905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000905	- Phenylketonuria (PKU) [MIM:261600]	SWISS	28	COG3186	4557819,NP_000268
5053	129973	Disease	p.Asn167Ile	VAR_000906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000906	- Phenylketonuria (PKU) [MIM:261600]	SWISS	48	cd03345	4557819,NP_000268
5053	129973	Disease	p.Asn167Ile	VAR_000906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000906	- Phenylketonuria (PKU) [MIM:261600]	SWISS	49	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Asn167Ile	VAR_000906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000906	- Phenylketonuria (PKU) [MIM:261600]	SWISS	53	cd03347	4557819,NP_000268
5053	129973	Disease	p.Asn167Ile	VAR_000906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000906	- Phenylketonuria (PKU) [MIM:261600]	SWISS	49	cd03346	4557819,NP_000268
5053	129973	Disease	p.Asn167Ile	VAR_000906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000906	- Phenylketonuria (PKU) [MIM:261600]	SWISS	35	COG3186	4557819,NP_000268
5053	129973	Disease	p.Asn167Ser	VAR_011567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011567	- Hyperphenylalaninemia (HPA) [MIM:261600]	SWISS	48	cd03345	4557819,NP_000268
5053	129973	Disease	p.Asn167Ser	VAR_011567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011567	- Hyperphenylalaninemia (HPA) [MIM:261600]	SWISS	49	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Asn167Ser	VAR_011567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011567	- Hyperphenylalaninemia (HPA) [MIM:261600]	SWISS	53	cd03347	4557819,NP_000268
5053	129973	Disease	p.Asn167Ser	VAR_011567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011567	- Hyperphenylalaninemia (HPA) [MIM:261600]	SWISS	49	cd03346	4557819,NP_000268
5053	129973	Disease	p.Asn167Ser	VAR_011567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011567	- Hyperphenylalaninemia (HPA) [MIM:261600]	SWISS	35	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg169His	VAR_011568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011568	- Phenylketonuria (PKU) [MIM:261600]	SWISS	50	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg169His	VAR_011568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011568	- Phenylketonuria (PKU) [MIM:261600]	SWISS	51	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg169His	VAR_011568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011568	- Phenylketonuria (PKU) [MIM:261600]	SWISS	55	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg169His	VAR_011568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011568	- Phenylketonuria (PKU) [MIM:261600]	SWISS	51	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg169His	VAR_011568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011568	- Phenylketonuria (PKU) [MIM:261600]	SWISS	37	COG3186	4557819,NP_000268
5053	129973	Disease	p.His170Asp	VAR_011569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011569	- Hyperphenylalaninemia (HPA) [MIM:261600]	SWISS	51	cd03345	4557819,NP_000268
5053	129973	Disease	p.His170Asp	VAR_011569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011569	- Hyperphenylalaninemia (HPA) [MIM:261600]	SWISS	52	pfam00351	4557819,NP_000268
5053	129973	Disease	p.His170Asp	VAR_011569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011569	- Hyperphenylalaninemia (HPA) [MIM:261600]	SWISS	56	cd03347	4557819,NP_000268
5053	129973	Disease	p.His170Asp	VAR_011569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011569	- Hyperphenylalaninemia (HPA) [MIM:261600]	SWISS	52	cd03346	4557819,NP_000268
5053	129973	Disease	p.His170Asp	VAR_011569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011569	- Hyperphenylalaninemia (HPA) [MIM:261600]	SWISS	38	COG3186	4557819,NP_000268
5053	129973	Disease	p.His170Asp	VAR_011569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011569	- Hyperphenylalaninemia (HPA) [MIM:261600]	SWISS	2	cd03348	4557819,NP_000268
5053	129973	Disease	p.His170Arg	VAR_000907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000907	- Phenylketonuria (PKU) [MIM:261600]	SWISS	51	cd03345	4557819,NP_000268
5053	129973	Disease	p.His170Arg	VAR_000907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000907	- Phenylketonuria (PKU) [MIM:261600]	SWISS	52	pfam00351	4557819,NP_000268
5053	129973	Disease	p.His170Arg	VAR_000907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000907	- Phenylketonuria (PKU) [MIM:261600]	SWISS	56	cd03347	4557819,NP_000268
5053	129973	Disease	p.His170Arg	VAR_000907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000907	- Phenylketonuria (PKU) [MIM:261600]	SWISS	52	cd03346	4557819,NP_000268
5053	129973	Disease	p.His170Arg	VAR_000907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000907	- Phenylketonuria (PKU) [MIM:261600]	SWISS	38	COG3186	4557819,NP_000268
5053	129973	Disease	p.His170Arg	VAR_000907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000907	- Phenylketonuria (PKU) [MIM:261600]	SWISS	2	cd03348	4557819,NP_000268
5053	129973	Disease	p.Gly171Ala	VAR_000908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000908	- Phenylketonuria (PKU) [MIM:261600]	SWISS	52	cd03345	4557819,NP_000268
5053	129973	Disease	p.Gly171Ala	VAR_000908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000908	- Phenylketonuria (PKU) [MIM:261600]	SWISS	53	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Gly171Ala	VAR_000908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000908	- Phenylketonuria (PKU) [MIM:261600]	SWISS	57	cd03347	4557819,NP_000268
5053	129973	Disease	p.Gly171Ala	VAR_000908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000908	- Phenylketonuria (PKU) [MIM:261600]	SWISS	53	cd03346	4557819,NP_000268
5053	129973	Disease	p.Gly171Ala	VAR_000908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000908	- Phenylketonuria (PKU) [MIM:261600]	SWISS	39	COG3186	4557819,NP_000268
5053	129973	Disease	p.Gly171Ala	VAR_000908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000908	- Phenylketonuria (PKU) [MIM:261600]	SWISS	3	cd03348	4557819,NP_000268
5053	129973	Disease	p.Gly171Arg	VAR_000909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000909	- Phenylketonuria (PKU) [MIM:261600]	SWISS	52	cd03345	4557819,NP_000268
5053	129973	Disease	p.Gly171Arg	VAR_000909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000909	- Phenylketonuria (PKU) [MIM:261600]	SWISS	53	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Gly171Arg	VAR_000909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000909	- Phenylketonuria (PKU) [MIM:261600]	SWISS	57	cd03347	4557819,NP_000268
5053	129973	Disease	p.Gly171Arg	VAR_000909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000909	- Phenylketonuria (PKU) [MIM:261600]	SWISS	53	cd03346	4557819,NP_000268
5053	129973	Disease	p.Gly171Arg	VAR_000909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000909	- Phenylketonuria (PKU) [MIM:261600]	SWISS	39	COG3186	4557819,NP_000268
5053	129973	Disease	p.Gly171Arg	VAR_000909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000909	- Phenylketonuria (PKU) [MIM:261600]	SWISS	3	cd03348	4557819,NP_000268
5053	129973	Disease	p.Pro173Thr	VAR_000910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000910	- Phenylketonuria (PKU) [MIM:261600]	SWISS	54	cd03345	4557819,NP_000268
5053	129973	Disease	p.Pro173Thr	VAR_000910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000910	- Phenylketonuria (PKU) [MIM:261600]	SWISS	55	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Pro173Thr	VAR_000910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000910	- Phenylketonuria (PKU) [MIM:261600]	SWISS	59	cd03347	4557819,NP_000268
5053	129973	Disease	p.Pro173Thr	VAR_000910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000910	- Phenylketonuria (PKU) [MIM:261600]	SWISS	55	cd03346	4557819,NP_000268
5053	129973	Disease	p.Pro173Thr	VAR_000910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000910	- Phenylketonuria (PKU) [MIM:261600]	SWISS	41	COG3186	4557819,NP_000268
5053	129973	Disease	p.Pro173Thr	VAR_000910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000910	- Phenylketonuria (PKU) [MIM:261600]	SWISS	5	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ile174Thr	VAR_000911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000911	- Phenylketonuria (PKU) [MIM:261600]	SWISS	55	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ile174Thr	VAR_000911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000911	- Phenylketonuria (PKU) [MIM:261600]	SWISS	56	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ile174Thr	VAR_000911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000911	- Phenylketonuria (PKU) [MIM:261600]	SWISS	60	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ile174Thr	VAR_000911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000911	- Phenylketonuria (PKU) [MIM:261600]	SWISS	56	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ile174Thr	VAR_000911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000911	- Phenylketonuria (PKU) [MIM:261600]	SWISS	42	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ile174Thr	VAR_000911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000911	- Phenylketonuria (PKU) [MIM:261600]	SWISS	6	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ile174Val	VAR_011570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011570	- Phenylketonuria (PKU) [MIM:261600]	SWISS	55	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ile174Val	VAR_011570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011570	- Phenylketonuria (PKU) [MIM:261600]	SWISS	56	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ile174Val	VAR_011570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011570	- Phenylketonuria (PKU) [MIM:261600]	SWISS	60	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ile174Val	VAR_011570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011570	- Phenylketonuria (PKU) [MIM:261600]	SWISS	56	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ile174Val	VAR_011570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011570	- Phenylketonuria (PKU) [MIM:261600]	SWISS	42	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ile174Val	VAR_011570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011570	- Phenylketonuria (PKU) [MIM:261600]	SWISS	6	cd03348	4557819,NP_000268
5053	129973	Disease	p.Pro175Ala	VAR_000912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000912	- Phenylketonuria (PKU) [MIM:261600]	SWISS	56	cd03345	4557819,NP_000268
5053	129973	Disease	p.Pro175Ala	VAR_000912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000912	- Phenylketonuria (PKU) [MIM:261600]	SWISS	57	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Pro175Ala	VAR_000912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000912	- Phenylketonuria (PKU) [MIM:261600]	SWISS	61	cd03347	4557819,NP_000268
5053	129973	Disease	p.Pro175Ala	VAR_000912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000912	- Phenylketonuria (PKU) [MIM:261600]	SWISS	57	cd03346	4557819,NP_000268
5053	129973	Disease	p.Pro175Ala	VAR_000912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000912	- Phenylketonuria (PKU) [MIM:261600]	SWISS	45	COG3186	4557819,NP_000268
5053	129973	Disease	p.Pro175Ala	VAR_000912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000912	- Phenylketonuria (PKU) [MIM:261600]	SWISS	7	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg176Leu	VAR_000913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000913	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	57	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg176Leu	VAR_000913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000913	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	58	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg176Leu	VAR_000913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000913	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	62	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg176Leu	VAR_000913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000913	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	58	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg176Leu	VAR_000913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000913	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	46	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg176Leu	VAR_000913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000913	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	8	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg176Leu	VAR_000913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000913	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	2	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg176Pro	VAR_000914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000914	- Phenylketonuria (PKU) [MIM:261600]	SWISS	57	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg176Pro	VAR_000914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000914	- Phenylketonuria (PKU) [MIM:261600]	SWISS	58	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg176Pro	VAR_000914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000914	- Phenylketonuria (PKU) [MIM:261600]	SWISS	62	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg176Pro	VAR_000914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000914	- Phenylketonuria (PKU) [MIM:261600]	SWISS	58	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg176Pro	VAR_000914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000914	- Phenylketonuria (PKU) [MIM:261600]	SWISS	46	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg176Pro	VAR_000914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000914	- Phenylketonuria (PKU) [MIM:261600]	SWISS	8	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg176Pro	VAR_000914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000914	- Phenylketonuria (PKU) [MIM:261600]	SWISS	2	cd00361	4557819,NP_000268
5053	129973	Disease	p.Val177Leu	VAR_000915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000915	- Phenylketonuria (PKU) [MIM:261600]	SWISS	58	cd03345	4557819,NP_000268
5053	129973	Disease	p.Val177Leu	VAR_000915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000915	- Phenylketonuria (PKU) [MIM:261600]	SWISS	59	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Val177Leu	VAR_000915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000915	- Phenylketonuria (PKU) [MIM:261600]	SWISS	63	cd03347	4557819,NP_000268
5053	129973	Disease	p.Val177Leu	VAR_000915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000915	- Phenylketonuria (PKU) [MIM:261600]	SWISS	59	cd03346	4557819,NP_000268
5053	129973	Disease	p.Val177Leu	VAR_000915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000915	- Phenylketonuria (PKU) [MIM:261600]	SWISS	47	COG3186	4557819,NP_000268
5053	129973	Disease	p.Val177Leu	VAR_000915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000915	- Phenylketonuria (PKU) [MIM:261600]	SWISS	9	cd03348	4557819,NP_000268
5053	129973	Disease	p.Val177Leu	VAR_000915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000915	- Phenylketonuria (PKU) [MIM:261600]	SWISS	3	cd00361	4557819,NP_000268
5053	129973	Disease	p.Glu178Gly	VAR_000916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000916	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	59	cd03345	4557819,NP_000268
5053	129973	Disease	p.Glu178Gly	VAR_000916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000916	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	60	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Glu178Gly	VAR_000916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000916	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	64	cd03347	4557819,NP_000268
5053	129973	Disease	p.Glu178Gly	VAR_000916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000916	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	60	cd03346	4557819,NP_000268
5053	129973	Disease	p.Glu178Gly	VAR_000916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000916	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	48	COG3186	4557819,NP_000268
5053	129973	Disease	p.Glu178Gly	VAR_000916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000916	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	10	cd03348	4557819,NP_000268
5053	129973	Disease	p.Glu178Gly	VAR_000916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000916	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	4	cd00361	4557819,NP_000268
5053	129973	Disease	p.Glu183Gln	VAR_009243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009243	- Phenylketonuria (PKU) [MIM:261600]	SWISS	64	cd03345	4557819,NP_000268
5053	129973	Disease	p.Glu183Gln	VAR_009243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009243	- Phenylketonuria (PKU) [MIM:261600]	SWISS	65	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Glu183Gln	VAR_009243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009243	- Phenylketonuria (PKU) [MIM:261600]	SWISS	69	cd03347	4557819,NP_000268
5053	129973	Disease	p.Glu183Gln	VAR_009243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009243	- Phenylketonuria (PKU) [MIM:261600]	SWISS	65	cd03346	4557819,NP_000268
5053	129973	Disease	p.Glu183Gln	VAR_009243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009243	- Phenylketonuria (PKU) [MIM:261600]	SWISS	53	COG3186	4557819,NP_000268
5053	129973	Disease	p.Glu183Gln	VAR_009243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009243	- Phenylketonuria (PKU) [MIM:261600]	SWISS	15	cd03348	4557819,NP_000268
5053	129973	Disease	p.Glu183Gln	VAR_009243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009243	- Phenylketonuria (PKU) [MIM:261600]	SWISS	9	cd00361	4557819,NP_000268
5053	129973	Disease	p.Val190Ala	VAR_000917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000917	- Phenylketonuria (PKU) [MIM:261600]	SWISS	71	cd03345	4557819,NP_000268
5053	129973	Disease	p.Val190Ala	VAR_000917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000917	- Phenylketonuria (PKU) [MIM:261600]	SWISS	72	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Val190Ala	VAR_000917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000917	- Phenylketonuria (PKU) [MIM:261600]	SWISS	76	cd03347	4557819,NP_000268
5053	129973	Disease	p.Val190Ala	VAR_000917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000917	- Phenylketonuria (PKU) [MIM:261600]	SWISS	72	cd03346	4557819,NP_000268
5053	129973	Disease	p.Val190Ala	VAR_000917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000917	- Phenylketonuria (PKU) [MIM:261600]	SWISS	60	COG3186	4557819,NP_000268
5053	129973	Disease	p.Val190Ala	VAR_000917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000917	- Phenylketonuria (PKU) [MIM:261600]	SWISS	22	cd03348	4557819,NP_000268
5053	129973	Disease	p.Val190Ala	VAR_000917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000917	- Phenylketonuria (PKU) [MIM:261600]	SWISS	16	cd00361	4557819,NP_000268
5053	129973	Disease	p.Leu194Pro	VAR_000918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000918	- Phenylketonuria (PKU) [MIM:261600]	SWISS	75	cd03345	4557819,NP_000268
5053	129973	Disease	p.Leu194Pro	VAR_000918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000918	- Phenylketonuria (PKU) [MIM:261600]	SWISS	76	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Leu194Pro	VAR_000918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000918	- Phenylketonuria (PKU) [MIM:261600]	SWISS	80	cd03347	4557819,NP_000268
5053	129973	Disease	p.Leu194Pro	VAR_000918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000918	- Phenylketonuria (PKU) [MIM:261600]	SWISS	76	cd03346	4557819,NP_000268
5053	129973	Disease	p.Leu194Pro	VAR_000918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000918	- Phenylketonuria (PKU) [MIM:261600]	SWISS	64	COG3186	4557819,NP_000268
5053	129973	Disease	p.Leu194Pro	VAR_000918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000918	- Phenylketonuria (PKU) [MIM:261600]	SWISS	26	cd03348	4557819,NP_000268
5053	129973	Disease	p.Leu194Pro	VAR_000918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000918	- Phenylketonuria (PKU) [MIM:261600]	SWISS	20	cd00361	4557819,NP_000268
5053	129973	Disease	p.His201Arg	VAR_000922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000922	- Phenylketonuria (PKU) [MIM:261600]	SWISS	82	cd03345	4557819,NP_000268
5053	129973	Disease	p.His201Arg	VAR_000922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000922	- Phenylketonuria (PKU) [MIM:261600]	SWISS	83	pfam00351	4557819,NP_000268
5053	129973	Disease	p.His201Arg	VAR_000922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000922	- Phenylketonuria (PKU) [MIM:261600]	SWISS	87	cd03347	4557819,NP_000268
5053	129973	Disease	p.His201Arg	VAR_000922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000922	- Phenylketonuria (PKU) [MIM:261600]	SWISS	83	cd03346	4557819,NP_000268
5053	129973	Disease	p.His201Arg	VAR_000922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000922	- Phenylketonuria (PKU) [MIM:261600]	SWISS	71	COG3186	4557819,NP_000268
5053	129973	Disease	p.His201Arg	VAR_000922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000922	- Phenylketonuria (PKU) [MIM:261600]	SWISS	33	cd03348	4557819,NP_000268
5053	129973	Disease	p.His201Arg	VAR_000922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000922	- Phenylketonuria (PKU) [MIM:261600]	SWISS	27	cd00361	4557819,NP_000268
5053	129973	Disease	p.His201Tyr	VAR_000923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000923	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	82	cd03345	4557819,NP_000268
5053	129973	Disease	p.His201Tyr	VAR_000923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000923	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	83	pfam00351	4557819,NP_000268
5053	129973	Disease	p.His201Tyr	VAR_000923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000923	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	87	cd03347	4557819,NP_000268
5053	129973	Disease	p.His201Tyr	VAR_000923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000923	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	83	cd03346	4557819,NP_000268
5053	129973	Disease	p.His201Tyr	VAR_000923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000923	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	71	COG3186	4557819,NP_000268
5053	129973	Disease	p.His201Tyr	VAR_000923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000923	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	33	cd03348	4557819,NP_000268
5053	129973	Disease	p.His201Tyr	VAR_000923	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000923	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	27	cd00361	4557819,NP_000268
5053	129973	Disease	p.Tyr204Cys	VAR_000924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000924	- Phenylketonuria (PKU) [MIM:261600]	SWISS	85	cd03345	4557819,NP_000268
5053	129973	Disease	p.Tyr204Cys	VAR_000924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000924	- Phenylketonuria (PKU) [MIM:261600]	SWISS	86	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Tyr204Cys	VAR_000924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000924	- Phenylketonuria (PKU) [MIM:261600]	SWISS	90	cd03347	4557819,NP_000268
5053	129973	Disease	p.Tyr204Cys	VAR_000924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000924	- Phenylketonuria (PKU) [MIM:261600]	SWISS	86	cd03346	4557819,NP_000268
5053	129973	Disease	p.Tyr204Cys	VAR_000924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000924	- Phenylketonuria (PKU) [MIM:261600]	SWISS	74	COG3186	4557819,NP_000268
5053	129973	Disease	p.Tyr204Cys	VAR_000924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000924	- Phenylketonuria (PKU) [MIM:261600]	SWISS	36	cd03348	4557819,NP_000268
5053	129973	Disease	p.Tyr204Cys	VAR_000924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000924	- Phenylketonuria (PKU) [MIM:261600]	SWISS	30	cd00361	4557819,NP_000268
5053	129973	Disease	p.Glu205Ala	VAR_011571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011571	- Phenylketonuria (PKU) [MIM:261600]	SWISS	86	cd03345	4557819,NP_000268
5053	129973	Disease	p.Glu205Ala	VAR_011571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011571	- Phenylketonuria (PKU) [MIM:261600]	SWISS	87	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Glu205Ala	VAR_011571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011571	- Phenylketonuria (PKU) [MIM:261600]	SWISS	91	cd03347	4557819,NP_000268
5053	129973	Disease	p.Glu205Ala	VAR_011571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011571	- Phenylketonuria (PKU) [MIM:261600]	SWISS	87	cd03346	4557819,NP_000268
5053	129973	Disease	p.Glu205Ala	VAR_011571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011571	- Phenylketonuria (PKU) [MIM:261600]	SWISS	75	COG3186	4557819,NP_000268
5053	129973	Disease	p.Glu205Ala	VAR_011571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011571	- Phenylketonuria (PKU) [MIM:261600]	SWISS	37	cd03348	4557819,NP_000268
5053	129973	Disease	p.Glu205Ala	VAR_011571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011571	- Phenylketonuria (PKU) [MIM:261600]	SWISS	31	cd00361	4557819,NP_000268
5053	129973	Disease	p.Tyr206Asp	VAR_000925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000925	- Phenylketonuria (PKU) [MIM:261600]	SWISS	87	cd03345	4557819,NP_000268
5053	129973	Disease	p.Tyr206Asp	VAR_000925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000925	- Phenylketonuria (PKU) [MIM:261600]	SWISS	88	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Tyr206Asp	VAR_000925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000925	- Phenylketonuria (PKU) [MIM:261600]	SWISS	92	cd03347	4557819,NP_000268
5053	129973	Disease	p.Tyr206Asp	VAR_000925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000925	- Phenylketonuria (PKU) [MIM:261600]	SWISS	88	cd03346	4557819,NP_000268
5053	129973	Disease	p.Tyr206Asp	VAR_000925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000925	- Phenylketonuria (PKU) [MIM:261600]	SWISS	76	COG3186	4557819,NP_000268
5053	129973	Disease	p.Tyr206Asp	VAR_000925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000925	- Phenylketonuria (PKU) [MIM:261600]	SWISS	38	cd03348	4557819,NP_000268
5053	129973	Disease	p.Tyr206Asp	VAR_000925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000925	- Phenylketonuria (PKU) [MIM:261600]	SWISS	32	cd00361	4557819,NP_000268
5053	129973	Disease	p.Asn207Asp	VAR_000926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000926	- Phenylketonuria (PKU) [MIM:261600]	SWISS	88	cd03345	4557819,NP_000268
5053	129973	Disease	p.Asn207Asp	VAR_000926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000926	- Phenylketonuria (PKU) [MIM:261600]	SWISS	89	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Asn207Asp	VAR_000926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000926	- Phenylketonuria (PKU) [MIM:261600]	SWISS	93	cd03347	4557819,NP_000268
5053	129973	Disease	p.Asn207Asp	VAR_000926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000926	- Phenylketonuria (PKU) [MIM:261600]	SWISS	89	cd03346	4557819,NP_000268
5053	129973	Disease	p.Asn207Asp	VAR_000926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000926	- Phenylketonuria (PKU) [MIM:261600]	SWISS	76_G	COG3186	4557819,NP_000268
5053	129973	Disease	p.Asn207Asp	VAR_000926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000926	- Phenylketonuria (PKU) [MIM:261600]	SWISS	39	cd03348	4557819,NP_000268
5053	129973	Disease	p.Asn207Asp	VAR_000926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000926	- Phenylketonuria (PKU) [MIM:261600]	SWISS	33	cd00361	4557819,NP_000268
5053	129973	Disease	p.Asn207Ser	VAR_000927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000927	- Phenylketonuria (PKU) [MIM:261600]	SWISS	88	cd03345	4557819,NP_000268
5053	129973	Disease	p.Asn207Ser	VAR_000927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000927	- Phenylketonuria (PKU) [MIM:261600]	SWISS	89	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Asn207Ser	VAR_000927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000927	- Phenylketonuria (PKU) [MIM:261600]	SWISS	93	cd03347	4557819,NP_000268
5053	129973	Disease	p.Asn207Ser	VAR_000927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000927	- Phenylketonuria (PKU) [MIM:261600]	SWISS	89	cd03346	4557819,NP_000268
5053	129973	Disease	p.Asn207Ser	VAR_000927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000927	- Phenylketonuria (PKU) [MIM:261600]	SWISS	76_G	COG3186	4557819,NP_000268
5053	129973	Disease	p.Asn207Ser	VAR_000927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000927	- Phenylketonuria (PKU) [MIM:261600]	SWISS	39	cd03348	4557819,NP_000268
5053	129973	Disease	p.Asn207Ser	VAR_000927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000927	- Phenylketonuria (PKU) [MIM:261600]	SWISS	33	cd00361	4557819,NP_000268
5053	129973	Disease	p.Pro211Thr	VAR_000928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000928	- Phenylketonuria (PKU) [MIM:261600]	SWISS	92	cd03345	4557819,NP_000268
5053	129973	Disease	p.Pro211Thr	VAR_000928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000928	- Phenylketonuria (PKU) [MIM:261600]	SWISS	93	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Pro211Thr	VAR_000928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000928	- Phenylketonuria (PKU) [MIM:261600]	SWISS	97	cd03347	4557819,NP_000268
5053	129973	Disease	p.Pro211Thr	VAR_000928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000928	- Phenylketonuria (PKU) [MIM:261600]	SWISS	93	cd03346	4557819,NP_000268
5053	129973	Disease	p.Pro211Thr	VAR_000928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000928	- Phenylketonuria (PKU) [MIM:261600]	SWISS	78	COG3186	4557819,NP_000268
5053	129973	Disease	p.Pro211Thr	VAR_000928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000928	- Phenylketonuria (PKU) [MIM:261600]	SWISS	43	cd03348	4557819,NP_000268
5053	129973	Disease	p.Pro211Thr	VAR_000928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000928	- Phenylketonuria (PKU) [MIM:261600]	SWISS	37	cd00361	4557819,NP_000268
5053	129973	Disease	p.Leu212Pro	VAR_000929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000929	- Phenylketonuria (PKU) [MIM:261600]	SWISS	93	cd03345	4557819,NP_000268
5053	129973	Disease	p.Leu212Pro	VAR_000929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000929	- Phenylketonuria (PKU) [MIM:261600]	SWISS	94	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Leu212Pro	VAR_000929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000929	- Phenylketonuria (PKU) [MIM:261600]	SWISS	98	cd03347	4557819,NP_000268
5053	129973	Disease	p.Leu212Pro	VAR_000929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000929	- Phenylketonuria (PKU) [MIM:261600]	SWISS	94	cd03346	4557819,NP_000268
5053	129973	Disease	p.Leu212Pro	VAR_000929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000929	- Phenylketonuria (PKU) [MIM:261600]	SWISS	79	COG3186	4557819,NP_000268
5053	129973	Disease	p.Leu212Pro	VAR_000929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000929	- Phenylketonuria (PKU) [MIM:261600]	SWISS	44	cd03348	4557819,NP_000268
5053	129973	Disease	p.Leu212Pro	VAR_000929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000929	- Phenylketonuria (PKU) [MIM:261600]	SWISS	38	cd00361	4557819,NP_000268
5053	129973	Disease	p.Leu213Pro	VAR_000930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000930	- Phenylketonuria (PKU) [MIM:261600]	SWISS	94	cd03345	4557819,NP_000268
5053	129973	Disease	p.Leu213Pro	VAR_000930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000930	- Phenylketonuria (PKU) [MIM:261600]	SWISS	95	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Leu213Pro	VAR_000930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000930	- Phenylketonuria (PKU) [MIM:261600]	SWISS	99	cd03347	4557819,NP_000268
5053	129973	Disease	p.Leu213Pro	VAR_000930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000930	- Phenylketonuria (PKU) [MIM:261600]	SWISS	95	cd03346	4557819,NP_000268
5053	129973	Disease	p.Leu213Pro	VAR_000930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000930	- Phenylketonuria (PKU) [MIM:261600]	SWISS	80	COG3186	4557819,NP_000268
5053	129973	Disease	p.Leu213Pro	VAR_000930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000930	- Phenylketonuria (PKU) [MIM:261600]	SWISS	45	cd03348	4557819,NP_000268
5053	129973	Disease	p.Leu213Pro	VAR_000930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000930	- Phenylketonuria (PKU) [MIM:261600]	SWISS	39	cd00361	4557819,NP_000268
5053	129973	Disease	p.Cys217Gly	VAR_000931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000931	- Phenylketonuria (PKU) [MIM:261600]	SWISS	98	cd03345	4557819,NP_000268
5053	129973	Disease	p.Cys217Gly	VAR_000931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000931	- Phenylketonuria (PKU) [MIM:261600]	SWISS	99	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Cys217Gly	VAR_000931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000931	- Phenylketonuria (PKU) [MIM:261600]	SWISS	103	cd03347	4557819,NP_000268
5053	129973	Disease	p.Cys217Gly	VAR_000931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000931	- Phenylketonuria (PKU) [MIM:261600]	SWISS	99	cd03346	4557819,NP_000268
5053	129973	Disease	p.Cys217Gly	VAR_000931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000931	- Phenylketonuria (PKU) [MIM:261600]	SWISS	83_G	COG3186	4557819,NP_000268
5053	129973	Disease	p.Cys217Gly	VAR_000931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000931	- Phenylketonuria (PKU) [MIM:261600]	SWISS	47_G	cd03348	4557819,NP_000268
5053	129973	Disease	p.Cys217Gly	VAR_000931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000931	- Phenylketonuria (PKU) [MIM:261600]	SWISS	43	cd00361	4557819,NP_000268
5053	129973	Disease	p.Gly218Val	VAR_000932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000932	- Phenylketonuria (PKU) [MIM:261600]	SWISS	99	cd03345	4557819,NP_000268
5053	129973	Disease	p.Gly218Val	VAR_000932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000932	- Phenylketonuria (PKU) [MIM:261600]	SWISS	100	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Gly218Val	VAR_000932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000932	- Phenylketonuria (PKU) [MIM:261600]	SWISS	104	cd03347	4557819,NP_000268
5053	129973	Disease	p.Gly218Val	VAR_000932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000932	- Phenylketonuria (PKU) [MIM:261600]	SWISS	100	cd03346	4557819,NP_000268
5053	129973	Disease	p.Gly218Val	VAR_000932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000932	- Phenylketonuria (PKU) [MIM:261600]	SWISS	84	COG3186	4557819,NP_000268
5053	129973	Disease	p.Gly218Val	VAR_000932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000932	- Phenylketonuria (PKU) [MIM:261600]	SWISS	47_G	cd03348	4557819,NP_000268
5053	129973	Disease	p.Gly218Val	VAR_000932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000932	- Phenylketonuria (PKU) [MIM:261600]	SWISS	44	cd00361	4557819,NP_000268
5053	129973	Disease	p.Glu221Gly	VAR_000933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000933	- Phenylketonuria (PKU) [MIM:261600]	SWISS	102	cd03345	4557819,NP_000268
5053	129973	Disease	p.Glu221Gly	VAR_000933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000933	- Phenylketonuria (PKU) [MIM:261600]	SWISS	103	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Glu221Gly	VAR_000933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000933	- Phenylketonuria (PKU) [MIM:261600]	SWISS	107	cd03347	4557819,NP_000268
5053	129973	Disease	p.Glu221Gly	VAR_000933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000933	- Phenylketonuria (PKU) [MIM:261600]	SWISS	103	cd03346	4557819,NP_000268
5053	129973	Disease	p.Glu221Gly	VAR_000933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000933	- Phenylketonuria (PKU) [MIM:261600]	SWISS	87	COG3186	4557819,NP_000268
5053	129973	Disease	p.Glu221Gly	VAR_000933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000933	- Phenylketonuria (PKU) [MIM:261600]	SWISS	50	cd03348	4557819,NP_000268
5053	129973	Disease	p.Glu221Gly	VAR_000933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000933	- Phenylketonuria (PKU) [MIM:261600]	SWISS	47	cd00361	4557819,NP_000268
5053	129973	Disease	p.Asp222Val	VAR_000934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000934	- Phenylketonuria (PKU) [MIM:261600]	SWISS	103	cd03345	4557819,NP_000268
5053	129973	Disease	p.Asp222Val	VAR_000934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000934	- Phenylketonuria (PKU) [MIM:261600]	SWISS	104	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Asp222Val	VAR_000934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000934	- Phenylketonuria (PKU) [MIM:261600]	SWISS	108	cd03347	4557819,NP_000268
5053	129973	Disease	p.Asp222Val	VAR_000934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000934	- Phenylketonuria (PKU) [MIM:261600]	SWISS	104	cd03346	4557819,NP_000268
5053	129973	Disease	p.Asp222Val	VAR_000934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000934	- Phenylketonuria (PKU) [MIM:261600]	SWISS	88	COG3186	4557819,NP_000268
5053	129973	Disease	p.Asp222Val	VAR_000934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000934	- Phenylketonuria (PKU) [MIM:261600]	SWISS	51	cd03348	4557819,NP_000268
5053	129973	Disease	p.Asp222Val	VAR_000934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000934	- Phenylketonuria (PKU) [MIM:261600]	SWISS	48	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ile224Met	VAR_000935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000935	- Phenylketonuria (PKU) [MIM:261600]	SWISS	105	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ile224Met	VAR_000935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000935	- Phenylketonuria (PKU) [MIM:261600]	SWISS	106	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ile224Met	VAR_000935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000935	- Phenylketonuria (PKU) [MIM:261600]	SWISS	110	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ile224Met	VAR_000935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000935	- Phenylketonuria (PKU) [MIM:261600]	SWISS	106	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ile224Met	VAR_000935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000935	- Phenylketonuria (PKU) [MIM:261600]	SWISS	90	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ile224Met	VAR_000935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000935	- Phenylketonuria (PKU) [MIM:261600]	SWISS	53	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ile224Met	VAR_000935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000935	- Phenylketonuria (PKU) [MIM:261600]	SWISS	50	cd00361	4557819,NP_000268
5053	129973	Disease	p.Pro225Arg	VAR_000936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000936	- Phenylketonuria (PKU) [MIM:261600]	SWISS	106	cd03345	4557819,NP_000268
5053	129973	Disease	p.Pro225Arg	VAR_000936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000936	- Phenylketonuria (PKU) [MIM:261600]	SWISS	107	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Pro225Arg	VAR_000936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000936	- Phenylketonuria (PKU) [MIM:261600]	SWISS	111	cd03347	4557819,NP_000268
5053	129973	Disease	p.Pro225Arg	VAR_000936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000936	- Phenylketonuria (PKU) [MIM:261600]	SWISS	107	cd03346	4557819,NP_000268
5053	129973	Disease	p.Pro225Arg	VAR_000936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000936	- Phenylketonuria (PKU) [MIM:261600]	SWISS	91	COG3186	4557819,NP_000268
5053	129973	Disease	p.Pro225Arg	VAR_000936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000936	- Phenylketonuria (PKU) [MIM:261600]	SWISS	54	cd03348	4557819,NP_000268
5053	129973	Disease	p.Pro225Arg	VAR_000936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000936	- Phenylketonuria (PKU) [MIM:261600]	SWISS	51	cd00361	4557819,NP_000268
5053	129973	Disease	p.Pro225Thr	VAR_000937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000937	- Phenylketonuria (PKU) [MIM:261600]	SWISS	106	cd03345	4557819,NP_000268
5053	129973	Disease	p.Pro225Thr	VAR_000937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000937	- Phenylketonuria (PKU) [MIM:261600]	SWISS	107	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Pro225Thr	VAR_000937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000937	- Phenylketonuria (PKU) [MIM:261600]	SWISS	111	cd03347	4557819,NP_000268
5053	129973	Disease	p.Pro225Thr	VAR_000937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000937	- Phenylketonuria (PKU) [MIM:261600]	SWISS	107	cd03346	4557819,NP_000268
5053	129973	Disease	p.Pro225Thr	VAR_000937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000937	- Phenylketonuria (PKU) [MIM:261600]	SWISS	91	COG3186	4557819,NP_000268
5053	129973	Disease	p.Pro225Thr	VAR_000937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000937	- Phenylketonuria (PKU) [MIM:261600]	SWISS	54	cd03348	4557819,NP_000268
5053	129973	Disease	p.Pro225Thr	VAR_000937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000937	- Phenylketonuria (PKU) [MIM:261600]	SWISS	51	cd00361	4557819,NP_000268
5053	129973	Disease	p.Val230Ile	VAR_000938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000938	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	111	cd03345	4557819,NP_000268
5053	129973	Disease	p.Val230Ile	VAR_000938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000938	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	112	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Val230Ile	VAR_000938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000938	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	116	cd03347	4557819,NP_000268
5053	129973	Disease	p.Val230Ile	VAR_000938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000938	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	112	cd03346	4557819,NP_000268
5053	129973	Disease	p.Val230Ile	VAR_000938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000938	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	96	COG3186	4557819,NP_000268
5053	129973	Disease	p.Val230Ile	VAR_000938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000938	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	59	cd03348	4557819,NP_000268
5053	129973	Disease	p.Val230Ile	VAR_000938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000938	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	56	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ser231Phe	VAR_009244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009244	- Phenylketonuria (PKU) [MIM:261600]	SWISS	112	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ser231Phe	VAR_009244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009244	- Phenylketonuria (PKU) [MIM:261600]	SWISS	113	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ser231Phe	VAR_009244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009244	- Phenylketonuria (PKU) [MIM:261600]	SWISS	117	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ser231Phe	VAR_009244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009244	- Phenylketonuria (PKU) [MIM:261600]	SWISS	113	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ser231Phe	VAR_009244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009244	- Phenylketonuria (PKU) [MIM:261600]	SWISS	97	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ser231Phe	VAR_009244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009244	- Phenylketonuria (PKU) [MIM:261600]	SWISS	60	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ser231Phe	VAR_009244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009244	- Phenylketonuria (PKU) [MIM:261600]	SWISS	57	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ser231Pro	VAR_000939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000939	- Phenylketonuria (PKU) [MIM:261600]	SWISS	112	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ser231Pro	VAR_000939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000939	- Phenylketonuria (PKU) [MIM:261600]	SWISS	113	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ser231Pro	VAR_000939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000939	- Phenylketonuria (PKU) [MIM:261600]	SWISS	117	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ser231Pro	VAR_000939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000939	- Phenylketonuria (PKU) [MIM:261600]	SWISS	113	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ser231Pro	VAR_000939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000939	- Phenylketonuria (PKU) [MIM:261600]	SWISS	97	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ser231Pro	VAR_000939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000939	- Phenylketonuria (PKU) [MIM:261600]	SWISS	60	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ser231Pro	VAR_000939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000939	- Phenylketonuria (PKU) [MIM:261600]	SWISS	57	cd00361	4557819,NP_000268
5053	129973	Disease	p.Phe233Leu	VAR_000940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000940	- Phenylketonuria (PKU) [MIM:261600]	SWISS	114	cd03345	4557819,NP_000268
5053	129973	Disease	p.Phe233Leu	VAR_000940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000940	- Phenylketonuria (PKU) [MIM:261600]	SWISS	115	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Phe233Leu	VAR_000940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000940	- Phenylketonuria (PKU) [MIM:261600]	SWISS	119	cd03347	4557819,NP_000268
5053	129973	Disease	p.Phe233Leu	VAR_000940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000940	- Phenylketonuria (PKU) [MIM:261600]	SWISS	115	cd03346	4557819,NP_000268
5053	129973	Disease	p.Phe233Leu	VAR_000940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000940	- Phenylketonuria (PKU) [MIM:261600]	SWISS	99	COG3186	4557819,NP_000268
5053	129973	Disease	p.Phe233Leu	VAR_000940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000940	- Phenylketonuria (PKU) [MIM:261600]	SWISS	62	cd03348	4557819,NP_000268
5053	129973	Disease	p.Phe233Leu	VAR_000940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000940	- Phenylketonuria (PKU) [MIM:261600]	SWISS	59	cd00361	4557819,NP_000268
5053	129973	Disease	p.Thr238Pro	VAR_000941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000941	- Phenylketonuria (PKU) [MIM:261600]	SWISS	119	cd03345	4557819,NP_000268
5053	129973	Disease	p.Thr238Pro	VAR_000941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000941	- Phenylketonuria (PKU) [MIM:261600]	SWISS	120	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Thr238Pro	VAR_000941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000941	- Phenylketonuria (PKU) [MIM:261600]	SWISS	124	cd03347	4557819,NP_000268
5053	129973	Disease	p.Thr238Pro	VAR_000941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000941	- Phenylketonuria (PKU) [MIM:261600]	SWISS	120	cd03346	4557819,NP_000268
5053	129973	Disease	p.Thr238Pro	VAR_000941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000941	- Phenylketonuria (PKU) [MIM:261600]	SWISS	104	COG3186	4557819,NP_000268
5053	129973	Disease	p.Thr238Pro	VAR_000941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000941	- Phenylketonuria (PKU) [MIM:261600]	SWISS	67	cd03348	4557819,NP_000268
5053	129973	Disease	p.Thr238Pro	VAR_000941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000941	- Phenylketonuria (PKU) [MIM:261600]	SWISS	64	cd00361	4557819,NP_000268
5053	129973	Disease	p.Gly239Ser	VAR_000942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000942	- Phenylketonuria (PKU) [MIM:261600]	SWISS	120	cd03345	4557819,NP_000268
5053	129973	Disease	p.Gly239Ser	VAR_000942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000942	- Phenylketonuria (PKU) [MIM:261600]	SWISS	121	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Gly239Ser	VAR_000942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000942	- Phenylketonuria (PKU) [MIM:261600]	SWISS	125	cd03347	4557819,NP_000268
5053	129973	Disease	p.Gly239Ser	VAR_000942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000942	- Phenylketonuria (PKU) [MIM:261600]	SWISS	121	cd03346	4557819,NP_000268
5053	129973	Disease	p.Gly239Ser	VAR_000942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000942	- Phenylketonuria (PKU) [MIM:261600]	SWISS	105	COG3186	4557819,NP_000268
5053	129973	Disease	p.Gly239Ser	VAR_000942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000942	- Phenylketonuria (PKU) [MIM:261600]	SWISS	68	cd03348	4557819,NP_000268
5053	129973	Disease	p.Gly239Ser	VAR_000942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000942	- Phenylketonuria (PKU) [MIM:261600]	SWISS	65	cd00361	4557819,NP_000268
5053	129973	Disease	p.Phe240Ser	VAR_011572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011572	- Phenylketonuria (PKU) [MIM:261600]	SWISS	121	cd03345	4557819,NP_000268
5053	129973	Disease	p.Phe240Ser	VAR_011572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011572	- Phenylketonuria (PKU) [MIM:261600]	SWISS	122	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Phe240Ser	VAR_011572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011572	- Phenylketonuria (PKU) [MIM:261600]	SWISS	126	cd03347	4557819,NP_000268
5053	129973	Disease	p.Phe240Ser	VAR_011572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011572	- Phenylketonuria (PKU) [MIM:261600]	SWISS	122	cd03346	4557819,NP_000268
5053	129973	Disease	p.Phe240Ser	VAR_011572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011572	- Phenylketonuria (PKU) [MIM:261600]	SWISS	106	COG3186	4557819,NP_000268
5053	129973	Disease	p.Phe240Ser	VAR_011572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011572	- Phenylketonuria (PKU) [MIM:261600]	SWISS	69	cd03348	4557819,NP_000268
5053	129973	Disease	p.Phe240Ser	VAR_011572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011572	- Phenylketonuria (PKU) [MIM:261600]	SWISS	66	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg241Cys	VAR_000943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000943	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	122	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg241Cys	VAR_000943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000943	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	123	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg241Cys	VAR_000943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000943	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	127	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg241Cys	VAR_000943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000943	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	123	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg241Cys	VAR_000943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000943	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	107	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg241Cys	VAR_000943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000943	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	70	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg241Cys	VAR_000943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000943	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	67	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg241Cys	VAR_000943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000943	- Phenylketonuria (PKU) [MIM:261600]	SWISS	122	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg241Cys	VAR_000943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000943	- Phenylketonuria (PKU) [MIM:261600]	SWISS	123	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg241Cys	VAR_000943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000943	- Phenylketonuria (PKU) [MIM:261600]	SWISS	127	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg241Cys	VAR_000943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000943	- Phenylketonuria (PKU) [MIM:261600]	SWISS	123	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg241Cys	VAR_000943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000943	- Phenylketonuria (PKU) [MIM:261600]	SWISS	107	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg241Cys	VAR_000943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000943	- Phenylketonuria (PKU) [MIM:261600]	SWISS	70	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg241Cys	VAR_000943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000943	- Phenylketonuria (PKU) [MIM:261600]	SWISS	67	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg241His	VAR_000944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000944	- Phenylketonuria (PKU) [MIM:261600]	SWISS	122	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg241His	VAR_000944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000944	- Phenylketonuria (PKU) [MIM:261600]	SWISS	123	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg241His	VAR_000944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000944	- Phenylketonuria (PKU) [MIM:261600]	SWISS	127	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg241His	VAR_000944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000944	- Phenylketonuria (PKU) [MIM:261600]	SWISS	123	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg241His	VAR_000944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000944	- Phenylketonuria (PKU) [MIM:261600]	SWISS	107	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg241His	VAR_000944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000944	- Phenylketonuria (PKU) [MIM:261600]	SWISS	70	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg241His	VAR_000944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000944	- Phenylketonuria (PKU) [MIM:261600]	SWISS	67	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg241Leu	VAR_000945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000945	- Phenylketonuria (PKU) [MIM:261600]	SWISS	122	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg241Leu	VAR_000945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000945	- Phenylketonuria (PKU) [MIM:261600]	SWISS	123	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg241Leu	VAR_000945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000945	- Phenylketonuria (PKU) [MIM:261600]	SWISS	127	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg241Leu	VAR_000945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000945	- Phenylketonuria (PKU) [MIM:261600]	SWISS	123	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg241Leu	VAR_000945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000945	- Phenylketonuria (PKU) [MIM:261600]	SWISS	107	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg241Leu	VAR_000945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000945	- Phenylketonuria (PKU) [MIM:261600]	SWISS	70	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg241Leu	VAR_000945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000945	- Phenylketonuria (PKU) [MIM:261600]	SWISS	67	cd00361	4557819,NP_000268
5053	129973	Disease	p.Leu242Phe	VAR_000946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000946	- Phenylketonuria (PKU) [MIM:261600]	SWISS	123	cd03345	4557819,NP_000268
5053	129973	Disease	p.Leu242Phe	VAR_000946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000946	- Phenylketonuria (PKU) [MIM:261600]	SWISS	124	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Leu242Phe	VAR_000946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000946	- Phenylketonuria (PKU) [MIM:261600]	SWISS	128	cd03347	4557819,NP_000268
5053	129973	Disease	p.Leu242Phe	VAR_000946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000946	- Phenylketonuria (PKU) [MIM:261600]	SWISS	124	cd03346	4557819,NP_000268
5053	129973	Disease	p.Leu242Phe	VAR_000946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000946	- Phenylketonuria (PKU) [MIM:261600]	SWISS	108	COG3186	4557819,NP_000268
5053	129973	Disease	p.Leu242Phe	VAR_000946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000946	- Phenylketonuria (PKU) [MIM:261600]	SWISS	71	cd03348	4557819,NP_000268
5053	129973	Disease	p.Leu242Phe	VAR_000946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000946	- Phenylketonuria (PKU) [MIM:261600]	SWISS	68	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	VAR_000947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000947	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	124	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	VAR_000947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000947	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	125	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	VAR_000947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000947	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	129	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	VAR_000947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000947	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	125	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	VAR_000947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000947	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	109	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	VAR_000947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000947	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	72	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	VAR_000947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000947	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	69	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	VAR_000947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000947	- Phenylketonuria (PKU) [MIM:261600]	SWISS	124	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	VAR_000947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000947	- Phenylketonuria (PKU) [MIM:261600]	SWISS	125	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	VAR_000947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000947	- Phenylketonuria (PKU) [MIM:261600]	SWISS	129	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	VAR_000947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000947	- Phenylketonuria (PKU) [MIM:261600]	SWISS	125	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	VAR_000947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000947	- Phenylketonuria (PKU) [MIM:261600]	SWISS	109	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	VAR_000947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000947	- Phenylketonuria (PKU) [MIM:261600]	SWISS	72	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg243Gln	VAR_000947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000947	- Phenylketonuria (PKU) [MIM:261600]	SWISS	69	cd00361	4557819,NP_000268
5053	129973	Disease	p.Pro244Leu	VAR_000948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000948	- Phenylketonuria (PKU) [MIM:261600]	SWISS	125	cd03345	4557819,NP_000268
5053	129973	Disease	p.Pro244Leu	VAR_000948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000948	- Phenylketonuria (PKU) [MIM:261600]	SWISS	126	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Pro244Leu	VAR_000948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000948	- Phenylketonuria (PKU) [MIM:261600]	SWISS	130	cd03347	4557819,NP_000268
5053	129973	Disease	p.Pro244Leu	VAR_000948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000948	- Phenylketonuria (PKU) [MIM:261600]	SWISS	126	cd03346	4557819,NP_000268
5053	129973	Disease	p.Pro244Leu	VAR_000948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000948	- Phenylketonuria (PKU) [MIM:261600]	SWISS	110	COG3186	4557819,NP_000268
5053	129973	Disease	p.Pro244Leu	VAR_000948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000948	- Phenylketonuria (PKU) [MIM:261600]	SWISS	73	cd03348	4557819,NP_000268
5053	129973	Disease	p.Pro244Leu	VAR_000948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000948	- Phenylketonuria (PKU) [MIM:261600]	SWISS	70	cd00361	4557819,NP_000268
5053	129973	Disease	p.Val245Ala	VAR_000949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000949	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	126	cd03345	4557819,NP_000268
5053	129973	Disease	p.Val245Ala	VAR_000949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000949	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	127	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Val245Ala	VAR_000949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000949	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	131	cd03347	4557819,NP_000268
5053	129973	Disease	p.Val245Ala	VAR_000949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000949	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	127	cd03346	4557819,NP_000268
5053	129973	Disease	p.Val245Ala	VAR_000949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000949	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	111	COG3186	4557819,NP_000268
5053	129973	Disease	p.Val245Ala	VAR_000949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000949	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	74	cd03348	4557819,NP_000268
5053	129973	Disease	p.Val245Ala	VAR_000949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000949	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	71	cd00361	4557819,NP_000268
5053	129973	Disease	p.Val245Glu	VAR_000950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000950	- Phenylketonuria (PKU) [MIM:261600]	SWISS	126	cd03345	4557819,NP_000268
5053	129973	Disease	p.Val245Glu	VAR_000950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000950	- Phenylketonuria (PKU) [MIM:261600]	SWISS	127	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Val245Glu	VAR_000950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000950	- Phenylketonuria (PKU) [MIM:261600]	SWISS	131	cd03347	4557819,NP_000268
5053	129973	Disease	p.Val245Glu	VAR_000950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000950	- Phenylketonuria (PKU) [MIM:261600]	SWISS	127	cd03346	4557819,NP_000268
5053	129973	Disease	p.Val245Glu	VAR_000950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000950	- Phenylketonuria (PKU) [MIM:261600]	SWISS	111	COG3186	4557819,NP_000268
5053	129973	Disease	p.Val245Glu	VAR_000950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000950	- Phenylketonuria (PKU) [MIM:261600]	SWISS	74	cd03348	4557819,NP_000268
5053	129973	Disease	p.Val245Glu	VAR_000950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000950	- Phenylketonuria (PKU) [MIM:261600]	SWISS	71	cd00361	4557819,NP_000268
5053	129973	Disease	p.Val245Leu	VAR_000951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000951	- Phenylketonuria (PKU) [MIM:261600]	SWISS	126	cd03345	4557819,NP_000268
5053	129973	Disease	p.Val245Leu	VAR_000951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000951	- Phenylketonuria (PKU) [MIM:261600]	SWISS	127	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Val245Leu	VAR_000951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000951	- Phenylketonuria (PKU) [MIM:261600]	SWISS	131	cd03347	4557819,NP_000268
5053	129973	Disease	p.Val245Leu	VAR_000951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000951	- Phenylketonuria (PKU) [MIM:261600]	SWISS	127	cd03346	4557819,NP_000268
5053	129973	Disease	p.Val245Leu	VAR_000951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000951	- Phenylketonuria (PKU) [MIM:261600]	SWISS	111	COG3186	4557819,NP_000268
5053	129973	Disease	p.Val245Leu	VAR_000951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000951	- Phenylketonuria (PKU) [MIM:261600]	SWISS	74	cd03348	4557819,NP_000268
5053	129973	Disease	p.Val245Leu	VAR_000951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000951	- Phenylketonuria (PKU) [MIM:261600]	SWISS	71	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ala246Asp	VAR_000952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000952	- Phenylketonuria (PKU) [MIM:261600]	SWISS	127	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ala246Asp	VAR_000952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000952	- Phenylketonuria (PKU) [MIM:261600]	SWISS	128	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ala246Asp	VAR_000952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000952	- Phenylketonuria (PKU) [MIM:261600]	SWISS	132	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ala246Asp	VAR_000952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000952	- Phenylketonuria (PKU) [MIM:261600]	SWISS	128	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ala246Asp	VAR_000952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000952	- Phenylketonuria (PKU) [MIM:261600]	SWISS	112	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ala246Asp	VAR_000952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000952	- Phenylketonuria (PKU) [MIM:261600]	SWISS	75	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ala246Asp	VAR_000952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000952	- Phenylketonuria (PKU) [MIM:261600]	SWISS	72	cd00361	4557819,NP_000268
5053	129973	Disease	p.Gly247Val	VAR_000953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000953	- Phenylketonuria (PKU) [MIM:261600]	SWISS	128	cd03345	4557819,NP_000268
5053	129973	Disease	p.Gly247Val	VAR_000953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000953	- Phenylketonuria (PKU) [MIM:261600]	SWISS	129	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Gly247Val	VAR_000953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000953	- Phenylketonuria (PKU) [MIM:261600]	SWISS	133	cd03347	4557819,NP_000268
5053	129973	Disease	p.Gly247Val	VAR_000953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000953	- Phenylketonuria (PKU) [MIM:261600]	SWISS	129	cd03346	4557819,NP_000268
5053	129973	Disease	p.Gly247Val	VAR_000953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000953	- Phenylketonuria (PKU) [MIM:261600]	SWISS	113	COG3186	4557819,NP_000268
5053	129973	Disease	p.Gly247Val	VAR_000953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000953	- Phenylketonuria (PKU) [MIM:261600]	SWISS	76	cd03348	4557819,NP_000268
5053	129973	Disease	p.Gly247Val	VAR_000953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000953	- Phenylketonuria (PKU) [MIM:261600]	SWISS	73	cd00361	4557819,NP_000268
5053	129973	Disease	p.Leu248Pro	VAR_000954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000954	- Phenylketonuria (PKU) [MIM:261600]	SWISS	129	cd03345	4557819,NP_000268
5053	129973	Disease	p.Leu248Pro	VAR_000954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000954	- Phenylketonuria (PKU) [MIM:261600]	SWISS	130	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Leu248Pro	VAR_000954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000954	- Phenylketonuria (PKU) [MIM:261600]	SWISS	134	cd03347	4557819,NP_000268
5053	129973	Disease	p.Leu248Pro	VAR_000954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000954	- Phenylketonuria (PKU) [MIM:261600]	SWISS	130	cd03346	4557819,NP_000268
5053	129973	Disease	p.Leu248Pro	VAR_000954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000954	- Phenylketonuria (PKU) [MIM:261600]	SWISS	114	COG3186	4557819,NP_000268
5053	129973	Disease	p.Leu248Pro	VAR_000954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000954	- Phenylketonuria (PKU) [MIM:261600]	SWISS	77	cd03348	4557819,NP_000268
5053	129973	Disease	p.Leu248Pro	VAR_000954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000954	- Phenylketonuria (PKU) [MIM:261600]	SWISS	74	cd00361	4557819,NP_000268
5053	129973	Disease	p.Leu249Phe	VAR_000955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000955	- Phenylketonuria (PKU) [MIM:261600]	SWISS	130	cd03345	4557819,NP_000268
5053	129973	Disease	p.Leu249Phe	VAR_000955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000955	- Phenylketonuria (PKU) [MIM:261600]	SWISS	131	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Leu249Phe	VAR_000955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000955	- Phenylketonuria (PKU) [MIM:261600]	SWISS	135	cd03347	4557819,NP_000268
5053	129973	Disease	p.Leu249Phe	VAR_000955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000955	- Phenylketonuria (PKU) [MIM:261600]	SWISS	131	cd03346	4557819,NP_000268
5053	129973	Disease	p.Leu249Phe	VAR_000955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000955	- Phenylketonuria (PKU) [MIM:261600]	SWISS	115	COG3186	4557819,NP_000268
5053	129973	Disease	p.Leu249Phe	VAR_000955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000955	- Phenylketonuria (PKU) [MIM:261600]	SWISS	78	cd03348	4557819,NP_000268
5053	129973	Disease	p.Leu249Phe	VAR_000955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000955	- Phenylketonuria (PKU) [MIM:261600]	SWISS	75	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg252Gly	VAR_000956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000956	- Phenylketonuria (PKU) [MIM:261600]	SWISS	133	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg252Gly	VAR_000956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000956	- Phenylketonuria (PKU) [MIM:261600]	SWISS	134	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg252Gly	VAR_000956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000956	- Phenylketonuria (PKU) [MIM:261600]	SWISS	138	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg252Gly	VAR_000956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000956	- Phenylketonuria (PKU) [MIM:261600]	SWISS	134	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg252Gly	VAR_000956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000956	- Phenylketonuria (PKU) [MIM:261600]	SWISS	118	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg252Gly	VAR_000956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000956	- Phenylketonuria (PKU) [MIM:261600]	SWISS	82	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg252Gly	VAR_000956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000956	- Phenylketonuria (PKU) [MIM:261600]	SWISS	79	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg252Gln	VAR_000957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000957	- Phenylketonuria (PKU) [MIM:261600]	SWISS	133	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg252Gln	VAR_000957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000957	- Phenylketonuria (PKU) [MIM:261600]	SWISS	134	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg252Gln	VAR_000957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000957	- Phenylketonuria (PKU) [MIM:261600]	SWISS	138	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg252Gln	VAR_000957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000957	- Phenylketonuria (PKU) [MIM:261600]	SWISS	134	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg252Gln	VAR_000957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000957	- Phenylketonuria (PKU) [MIM:261600]	SWISS	118	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg252Gln	VAR_000957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000957	- Phenylketonuria (PKU) [MIM:261600]	SWISS	82	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg252Gln	VAR_000957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000957	- Phenylketonuria (PKU) [MIM:261600]	SWISS	79	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg252Trp	VAR_000958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000958	- Phenylketonuria (PKU) [MIM:261600]	SWISS	133	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg252Trp	VAR_000958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000958	- Phenylketonuria (PKU) [MIM:261600]	SWISS	134	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg252Trp	VAR_000958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000958	- Phenylketonuria (PKU) [MIM:261600]	SWISS	138	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg252Trp	VAR_000958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000958	- Phenylketonuria (PKU) [MIM:261600]	SWISS	134	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg252Trp	VAR_000958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000958	- Phenylketonuria (PKU) [MIM:261600]	SWISS	118	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg252Trp	VAR_000958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000958	- Phenylketonuria (PKU) [MIM:261600]	SWISS	82	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg252Trp	VAR_000958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000958	- Phenylketonuria (PKU) [MIM:261600]	SWISS	79	cd00361	4557819,NP_000268
5053	129973	Disease	p.Leu255Ser	VAR_000960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000960	- Phenylketonuria (PKU) [MIM:261600]	SWISS	136	cd03345	4557819,NP_000268
5053	129973	Disease	p.Leu255Ser	VAR_000960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000960	- Phenylketonuria (PKU) [MIM:261600]	SWISS	137	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Leu255Ser	VAR_000960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000960	- Phenylketonuria (PKU) [MIM:261600]	SWISS	141	cd03347	4557819,NP_000268
5053	129973	Disease	p.Leu255Ser	VAR_000960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000960	- Phenylketonuria (PKU) [MIM:261600]	SWISS	137	cd03346	4557819,NP_000268
5053	129973	Disease	p.Leu255Ser	VAR_000960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000960	- Phenylketonuria (PKU) [MIM:261600]	SWISS	121	COG3186	4557819,NP_000268
5053	129973	Disease	p.Leu255Ser	VAR_000960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000960	- Phenylketonuria (PKU) [MIM:261600]	SWISS	85	cd03348	4557819,NP_000268
5053	129973	Disease	p.Leu255Ser	VAR_000960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000960	- Phenylketonuria (PKU) [MIM:261600]	SWISS	82	cd00361	4557819,NP_000268
5053	129973	Disease	p.Leu255Val	VAR_000959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000959	- Phenylketonuria (PKU) [MIM:261600]	SWISS	136	cd03345	4557819,NP_000268
5053	129973	Disease	p.Leu255Val	VAR_000959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000959	- Phenylketonuria (PKU) [MIM:261600]	SWISS	137	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Leu255Val	VAR_000959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000959	- Phenylketonuria (PKU) [MIM:261600]	SWISS	141	cd03347	4557819,NP_000268
5053	129973	Disease	p.Leu255Val	VAR_000959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000959	- Phenylketonuria (PKU) [MIM:261600]	SWISS	137	cd03346	4557819,NP_000268
5053	129973	Disease	p.Leu255Val	VAR_000959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000959	- Phenylketonuria (PKU) [MIM:261600]	SWISS	121	COG3186	4557819,NP_000268
5053	129973	Disease	p.Leu255Val	VAR_000959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000959	- Phenylketonuria (PKU) [MIM:261600]	SWISS	85	cd03348	4557819,NP_000268
5053	129973	Disease	p.Leu255Val	VAR_000959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000959	- Phenylketonuria (PKU) [MIM:261600]	SWISS	82	cd00361	4557819,NP_000268
5053	129973	Disease	p.Gly257Cys	VAR_000961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000961	- Phenylketonuria (PKU) [MIM:261600]	SWISS	138	cd03345	4557819,NP_000268
5053	129973	Disease	p.Gly257Cys	VAR_000961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000961	- Phenylketonuria (PKU) [MIM:261600]	SWISS	139	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Gly257Cys	VAR_000961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000961	- Phenylketonuria (PKU) [MIM:261600]	SWISS	143	cd03347	4557819,NP_000268
5053	129973	Disease	p.Gly257Cys	VAR_000961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000961	- Phenylketonuria (PKU) [MIM:261600]	SWISS	139	cd03346	4557819,NP_000268
5053	129973	Disease	p.Gly257Cys	VAR_000961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000961	- Phenylketonuria (PKU) [MIM:261600]	SWISS	123	COG3186	4557819,NP_000268
5053	129973	Disease	p.Gly257Cys	VAR_000961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000961	- Phenylketonuria (PKU) [MIM:261600]	SWISS	87	cd03348	4557819,NP_000268
5053	129973	Disease	p.Gly257Cys	VAR_000961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000961	- Phenylketonuria (PKU) [MIM:261600]	SWISS	84	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ala259Thr	VAR_000962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000962	- Phenylketonuria (PKU) [MIM:261600]	SWISS	140	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ala259Thr	VAR_000962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000962	- Phenylketonuria (PKU) [MIM:261600]	SWISS	141	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ala259Thr	VAR_000962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000962	- Phenylketonuria (PKU) [MIM:261600]	SWISS	145	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ala259Thr	VAR_000962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000962	- Phenylketonuria (PKU) [MIM:261600]	SWISS	141	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ala259Thr	VAR_000962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000962	- Phenylketonuria (PKU) [MIM:261600]	SWISS	125	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ala259Thr	VAR_000962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000962	- Phenylketonuria (PKU) [MIM:261600]	SWISS	89	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ala259Thr	VAR_000962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000962	- Phenylketonuria (PKU) [MIM:261600]	SWISS	86	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ala259Val	VAR_000963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000963	- Phenylketonuria (PKU) [MIM:261600]	SWISS	140	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ala259Val	VAR_000963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000963	- Phenylketonuria (PKU) [MIM:261600]	SWISS	141	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ala259Val	VAR_000963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000963	- Phenylketonuria (PKU) [MIM:261600]	SWISS	145	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ala259Val	VAR_000963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000963	- Phenylketonuria (PKU) [MIM:261600]	SWISS	141	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ala259Val	VAR_000963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000963	- Phenylketonuria (PKU) [MIM:261600]	SWISS	125	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ala259Val	VAR_000963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000963	- Phenylketonuria (PKU) [MIM:261600]	SWISS	89	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ala259Val	VAR_000963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000963	- Phenylketonuria (PKU) [MIM:261600]	SWISS	86	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg261Pro	VAR_000964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000964	- Phenylketonuria (PKU) [MIM:261600]	SWISS	142	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg261Pro	VAR_000964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000964	- Phenylketonuria (PKU) [MIM:261600]	SWISS	143	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg261Pro	VAR_000964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000964	- Phenylketonuria (PKU) [MIM:261600]	SWISS	147	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg261Pro	VAR_000964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000964	- Phenylketonuria (PKU) [MIM:261600]	SWISS	143	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg261Pro	VAR_000964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000964	- Phenylketonuria (PKU) [MIM:261600]	SWISS	127	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg261Pro	VAR_000964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000964	- Phenylketonuria (PKU) [MIM:261600]	SWISS	116	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg261Pro	VAR_000964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000964	- Phenylketonuria (PKU) [MIM:261600]	SWISS	113	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg261Gln	VAR_000965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000965	rs5030849 Phenylketonuria (PKU) [MIM:261600]	SWISS	142	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg261Gln	VAR_000965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000965	rs5030849 Phenylketonuria (PKU) [MIM:261600]	SWISS	143	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg261Gln	VAR_000965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000965	rs5030849 Phenylketonuria (PKU) [MIM:261600]	SWISS	147	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg261Gln	VAR_000965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000965	rs5030849 Phenylketonuria (PKU) [MIM:261600]	SWISS	143	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg261Gln	VAR_000965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000965	rs5030849 Phenylketonuria (PKU) [MIM:261600]	SWISS	127	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg261Gln	VAR_000965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000965	rs5030849 Phenylketonuria (PKU) [MIM:261600]	SWISS	116	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg261Gln	VAR_000965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000965	rs5030849 Phenylketonuria (PKU) [MIM:261600]	SWISS	113	cd00361	4557819,NP_000268
5053	129973	Disease	p.Phe263Leu	VAR_000966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000966	- Phenylketonuria (PKU) [MIM:261600]	SWISS	144	cd03345	4557819,NP_000268
5053	129973	Disease	p.Phe263Leu	VAR_000966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000966	- Phenylketonuria (PKU) [MIM:261600]	SWISS	145	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Phe263Leu	VAR_000966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000966	- Phenylketonuria (PKU) [MIM:261600]	SWISS	149	cd03347	4557819,NP_000268
5053	129973	Disease	p.Phe263Leu	VAR_000966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000966	- Phenylketonuria (PKU) [MIM:261600]	SWISS	145	cd03346	4557819,NP_000268
5053	129973	Disease	p.Phe263Leu	VAR_000966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000966	- Phenylketonuria (PKU) [MIM:261600]	SWISS	129	COG3186	4557819,NP_000268
5053	129973	Disease	p.Phe263Leu	VAR_000966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000966	- Phenylketonuria (PKU) [MIM:261600]	SWISS	118	cd03348	4557819,NP_000268
5053	129973	Disease	p.Phe263Leu	VAR_000966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000966	- Phenylketonuria (PKU) [MIM:261600]	SWISS	115	cd00361	4557819,NP_000268
5053	129973	Disease	p.His264Leu	VAR_000967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000967	- Phenylketonuria (PKU) [MIM:261600]	SWISS	145	cd03345	4557819,NP_000268
5053	129973	Disease	p.His264Leu	VAR_000967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000967	- Phenylketonuria (PKU) [MIM:261600]	SWISS	146	pfam00351	4557819,NP_000268
5053	129973	Disease	p.His264Leu	VAR_000967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000967	- Phenylketonuria (PKU) [MIM:261600]	SWISS	150	cd03347	4557819,NP_000268
5053	129973	Disease	p.His264Leu	VAR_000967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000967	- Phenylketonuria (PKU) [MIM:261600]	SWISS	146	cd03346	4557819,NP_000268
5053	129973	Disease	p.His264Leu	VAR_000967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000967	- Phenylketonuria (PKU) [MIM:261600]	SWISS	130	COG3186	4557819,NP_000268
5053	129973	Disease	p.His264Leu	VAR_000967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000967	- Phenylketonuria (PKU) [MIM:261600]	SWISS	119	cd03348	4557819,NP_000268
5053	129973	Disease	p.His264Leu	VAR_000967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000967	- Phenylketonuria (PKU) [MIM:261600]	SWISS	116	cd00361	4557819,NP_000268
5053	129973	Disease	p.Cys265Gly	VAR_000968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000968	- Phenylketonuria (PKU) [MIM:261600]	SWISS	146	cd03345	4557819,NP_000268
5053	129973	Disease	p.Cys265Gly	VAR_000968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000968	- Phenylketonuria (PKU) [MIM:261600]	SWISS	147	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Cys265Gly	VAR_000968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000968	- Phenylketonuria (PKU) [MIM:261600]	SWISS	151	cd03347	4557819,NP_000268
5053	129973	Disease	p.Cys265Gly	VAR_000968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000968	- Phenylketonuria (PKU) [MIM:261600]	SWISS	147	cd03346	4557819,NP_000268
5053	129973	Disease	p.Cys265Gly	VAR_000968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000968	- Phenylketonuria (PKU) [MIM:261600]	SWISS	131	COG3186	4557819,NP_000268
5053	129973	Disease	p.Cys265Gly	VAR_000968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000968	- Phenylketonuria (PKU) [MIM:261600]	SWISS	120	cd03348	4557819,NP_000268
5053	129973	Disease	p.Cys265Gly	VAR_000968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000968	- Phenylketonuria (PKU) [MIM:261600]	SWISS	117	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ile269Leu	VAR_000969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000969	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	150	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ile269Leu	VAR_000969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000969	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	151	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ile269Leu	VAR_000969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000969	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	155	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ile269Leu	VAR_000969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000969	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	151	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ile269Leu	VAR_000969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000969	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	135	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ile269Leu	VAR_000969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000969	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	124	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ile269Leu	VAR_000969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000969	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	121	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg270Lys	VAR_000970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000970	- Phenylketonuria (PKU) [MIM:261600]	SWISS	151	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg270Lys	VAR_000970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000970	- Phenylketonuria (PKU) [MIM:261600]	SWISS	152	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg270Lys	VAR_000970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000970	- Phenylketonuria (PKU) [MIM:261600]	SWISS	156	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg270Lys	VAR_000970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000970	- Phenylketonuria (PKU) [MIM:261600]	SWISS	152	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg270Lys	VAR_000970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000970	- Phenylketonuria (PKU) [MIM:261600]	SWISS	136	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg270Lys	VAR_000970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000970	- Phenylketonuria (PKU) [MIM:261600]	SWISS	125	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg270Lys	VAR_000970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000970	- Phenylketonuria (PKU) [MIM:261600]	SWISS	122	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg270Ser	VAR_000971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000971	- Phenylketonuria (PKU) [MIM:261600]	SWISS	151	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg270Ser	VAR_000971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000971	- Phenylketonuria (PKU) [MIM:261600]	SWISS	152	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg270Ser	VAR_000971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000971	- Phenylketonuria (PKU) [MIM:261600]	SWISS	156	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg270Ser	VAR_000971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000971	- Phenylketonuria (PKU) [MIM:261600]	SWISS	152	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg270Ser	VAR_000971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000971	- Phenylketonuria (PKU) [MIM:261600]	SWISS	136	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg270Ser	VAR_000971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000971	- Phenylketonuria (PKU) [MIM:261600]	SWISS	125	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg270Ser	VAR_000971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000971	- Phenylketonuria (PKU) [MIM:261600]	SWISS	122	cd00361	4557819,NP_000268
5053	129973	Disease	p.His271Tyr	VAR_000972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000972	- Phenylketonuria (PKU) [MIM:261600]	SWISS	152	cd03345	4557819,NP_000268
5053	129973	Disease	p.His271Tyr	VAR_000972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000972	- Phenylketonuria (PKU) [MIM:261600]	SWISS	153	pfam00351	4557819,NP_000268
5053	129973	Disease	p.His271Tyr	VAR_000972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000972	- Phenylketonuria (PKU) [MIM:261600]	SWISS	157	cd03347	4557819,NP_000268
5053	129973	Disease	p.His271Tyr	VAR_000972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000972	- Phenylketonuria (PKU) [MIM:261600]	SWISS	153	cd03346	4557819,NP_000268
5053	129973	Disease	p.His271Tyr	VAR_000972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000972	- Phenylketonuria (PKU) [MIM:261600]	SWISS	137	COG3186	4557819,NP_000268
5053	129973	Disease	p.His271Tyr	VAR_000972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000972	- Phenylketonuria (PKU) [MIM:261600]	SWISS	126	cd03348	4557819,NP_000268
5053	129973	Disease	p.His271Tyr	VAR_000972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000972	- Phenylketonuria (PKU) [MIM:261600]	SWISS	123	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ser273Phe	VAR_000973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000973	- Phenylketonuria (PKU) [MIM:261600]	SWISS	154	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ser273Phe	VAR_000973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000973	- Phenylketonuria (PKU) [MIM:261600]	SWISS	155	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ser273Phe	VAR_000973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000973	- Phenylketonuria (PKU) [MIM:261600]	SWISS	159	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ser273Phe	VAR_000973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000973	- Phenylketonuria (PKU) [MIM:261600]	SWISS	155	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ser273Phe	VAR_000973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000973	- Phenylketonuria (PKU) [MIM:261600]	SWISS	139	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ser273Phe	VAR_000973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000973	- Phenylketonuria (PKU) [MIM:261600]	SWISS	128	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ser273Phe	VAR_000973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000973	- Phenylketonuria (PKU) [MIM:261600]	SWISS	125	cd00361	4557819,NP_000268
5053	129973	Disease	p.Met276Ile	VAR_000974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000974	- Phenylketonuria (PKU) [MIM:261600]	SWISS	157	cd03345	4557819,NP_000268
5053	129973	Disease	p.Met276Ile	VAR_000974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000974	- Phenylketonuria (PKU) [MIM:261600]	SWISS	158	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Met276Ile	VAR_000974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000974	- Phenylketonuria (PKU) [MIM:261600]	SWISS	162	cd03347	4557819,NP_000268
5053	129973	Disease	p.Met276Ile	VAR_000974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000974	- Phenylketonuria (PKU) [MIM:261600]	SWISS	158	cd03346	4557819,NP_000268
5053	129973	Disease	p.Met276Ile	VAR_000974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000974	- Phenylketonuria (PKU) [MIM:261600]	SWISS	142	COG3186	4557819,NP_000268
5053	129973	Disease	p.Met276Ile	VAR_000974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000974	- Phenylketonuria (PKU) [MIM:261600]	SWISS	131	cd03348	4557819,NP_000268
5053	129973	Disease	p.Met276Ile	VAR_000974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000974	- Phenylketonuria (PKU) [MIM:261600]	SWISS	128	cd00361	4557819,NP_000268
5053	129973	Disease	p.Met276Val	VAR_000975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000975	- Phenylketonuria (PKU) [MIM:261600]	SWISS	157	cd03345	4557819,NP_000268
5053	129973	Disease	p.Met276Val	VAR_000975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000975	- Phenylketonuria (PKU) [MIM:261600]	SWISS	158	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Met276Val	VAR_000975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000975	- Phenylketonuria (PKU) [MIM:261600]	SWISS	162	cd03347	4557819,NP_000268
5053	129973	Disease	p.Met276Val	VAR_000975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000975	- Phenylketonuria (PKU) [MIM:261600]	SWISS	158	cd03346	4557819,NP_000268
5053	129973	Disease	p.Met276Val	VAR_000975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000975	- Phenylketonuria (PKU) [MIM:261600]	SWISS	142	COG3186	4557819,NP_000268
5053	129973	Disease	p.Met276Val	VAR_000975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000975	- Phenylketonuria (PKU) [MIM:261600]	SWISS	131	cd03348	4557819,NP_000268
5053	129973	Disease	p.Met276Val	VAR_000975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000975	- Phenylketonuria (PKU) [MIM:261600]	SWISS	128	cd00361	4557819,NP_000268
5053	129973	Disease	p.Tyr277Cys	VAR_000976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000976	- Phenylketonuria (PKU) [MIM:261600]	SWISS	158	cd03345	4557819,NP_000268
5053	129973	Disease	p.Tyr277Cys	VAR_000976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000976	- Phenylketonuria (PKU) [MIM:261600]	SWISS	159	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Tyr277Cys	VAR_000976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000976	- Phenylketonuria (PKU) [MIM:261600]	SWISS	163	cd03347	4557819,NP_000268
5053	129973	Disease	p.Tyr277Cys	VAR_000976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000976	- Phenylketonuria (PKU) [MIM:261600]	SWISS	159	cd03346	4557819,NP_000268
5053	129973	Disease	p.Tyr277Cys	VAR_000976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000976	- Phenylketonuria (PKU) [MIM:261600]	SWISS	143	COG3186	4557819,NP_000268
5053	129973	Disease	p.Tyr277Cys	VAR_000976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000976	- Phenylketonuria (PKU) [MIM:261600]	SWISS	132	cd03348	4557819,NP_000268
5053	129973	Disease	p.Tyr277Cys	VAR_000976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000976	- Phenylketonuria (PKU) [MIM:261600]	SWISS	129	cd00361	4557819,NP_000268
5053	129973	Disease	p.Tyr277Asp	VAR_000977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000977	- Phenylketonuria (PKU) [MIM:261600]	SWISS	158	cd03345	4557819,NP_000268
5053	129973	Disease	p.Tyr277Asp	VAR_000977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000977	- Phenylketonuria (PKU) [MIM:261600]	SWISS	159	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Tyr277Asp	VAR_000977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000977	- Phenylketonuria (PKU) [MIM:261600]	SWISS	163	cd03347	4557819,NP_000268
5053	129973	Disease	p.Tyr277Asp	VAR_000977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000977	- Phenylketonuria (PKU) [MIM:261600]	SWISS	159	cd03346	4557819,NP_000268
5053	129973	Disease	p.Tyr277Asp	VAR_000977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000977	- Phenylketonuria (PKU) [MIM:261600]	SWISS	143	COG3186	4557819,NP_000268
5053	129973	Disease	p.Tyr277Asp	VAR_000977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000977	- Phenylketonuria (PKU) [MIM:261600]	SWISS	132	cd03348	4557819,NP_000268
5053	129973	Disease	p.Tyr277Asp	VAR_000977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000977	- Phenylketonuria (PKU) [MIM:261600]	SWISS	129	cd00361	4557819,NP_000268
5053	129973	Disease	p.Thr278Ala	VAR_000978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000978	- Phenylketonuria (PKU) [MIM:261600]	SWISS	159	cd03345	4557819,NP_000268
5053	129973	Disease	p.Thr278Ala	VAR_000978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000978	- Phenylketonuria (PKU) [MIM:261600]	SWISS	160	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Thr278Ala	VAR_000978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000978	- Phenylketonuria (PKU) [MIM:261600]	SWISS	164	cd03347	4557819,NP_000268
5053	129973	Disease	p.Thr278Ala	VAR_000978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000978	- Phenylketonuria (PKU) [MIM:261600]	SWISS	160	cd03346	4557819,NP_000268
5053	129973	Disease	p.Thr278Ala	VAR_000978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000978	- Phenylketonuria (PKU) [MIM:261600]	SWISS	144	COG3186	4557819,NP_000268
5053	129973	Disease	p.Thr278Ala	VAR_000978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000978	- Phenylketonuria (PKU) [MIM:261600]	SWISS	133	cd03348	4557819,NP_000268
5053	129973	Disease	p.Thr278Ala	VAR_000978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000978	- Phenylketonuria (PKU) [MIM:261600]	SWISS	130	cd00361	4557819,NP_000268
5053	129973	Disease	p.Thr278Asn	VAR_000979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000979	- Phenylketonuria (PKU) [MIM:261600]	SWISS	159	cd03345	4557819,NP_000268
5053	129973	Disease	p.Thr278Asn	VAR_000979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000979	- Phenylketonuria (PKU) [MIM:261600]	SWISS	160	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Thr278Asn	VAR_000979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000979	- Phenylketonuria (PKU) [MIM:261600]	SWISS	164	cd03347	4557819,NP_000268
5053	129973	Disease	p.Thr278Asn	VAR_000979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000979	- Phenylketonuria (PKU) [MIM:261600]	SWISS	160	cd03346	4557819,NP_000268
5053	129973	Disease	p.Thr278Asn	VAR_000979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000979	- Phenylketonuria (PKU) [MIM:261600]	SWISS	144	COG3186	4557819,NP_000268
5053	129973	Disease	p.Thr278Asn	VAR_000979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000979	- Phenylketonuria (PKU) [MIM:261600]	SWISS	133	cd03348	4557819,NP_000268
5053	129973	Disease	p.Thr278Asn	VAR_000979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000979	- Phenylketonuria (PKU) [MIM:261600]	SWISS	130	cd00361	4557819,NP_000268
5053	129973	Disease	p.Glu280Lys	VAR_000980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000980	- Phenylketonuria (PKU) [MIM:261600]	SWISS	161	cd03345	4557819,NP_000268
5053	129973	Disease	p.Glu280Lys	VAR_000980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000980	- Phenylketonuria (PKU) [MIM:261600]	SWISS	162	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Glu280Lys	VAR_000980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000980	- Phenylketonuria (PKU) [MIM:261600]	SWISS	166	cd03347	4557819,NP_000268
5053	129973	Disease	p.Glu280Lys	VAR_000980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000980	- Phenylketonuria (PKU) [MIM:261600]	SWISS	162	cd03346	4557819,NP_000268
5053	129973	Disease	p.Glu280Lys	VAR_000980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000980	- Phenylketonuria (PKU) [MIM:261600]	SWISS	146	COG3186	4557819,NP_000268
5053	129973	Disease	p.Glu280Lys	VAR_000980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000980	- Phenylketonuria (PKU) [MIM:261600]	SWISS	135	cd03348	4557819,NP_000268
5053	129973	Disease	p.Glu280Lys	VAR_000980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000980	- Phenylketonuria (PKU) [MIM:261600]	SWISS	132	cd00361	4557819,NP_000268
5053	129973	Disease	p.Pro281Leu	VAR_000981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000981	- Phenylketonuria (PKU) [MIM:261600]	SWISS	162	cd03345	4557819,NP_000268
5053	129973	Disease	p.Pro281Leu	VAR_000981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000981	- Phenylketonuria (PKU) [MIM:261600]	SWISS	163	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Pro281Leu	VAR_000981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000981	- Phenylketonuria (PKU) [MIM:261600]	SWISS	167	cd03347	4557819,NP_000268
5053	129973	Disease	p.Pro281Leu	VAR_000981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000981	- Phenylketonuria (PKU) [MIM:261600]	SWISS	163	cd03346	4557819,NP_000268
5053	129973	Disease	p.Pro281Leu	VAR_000981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000981	- Phenylketonuria (PKU) [MIM:261600]	SWISS	147	COG3186	4557819,NP_000268
5053	129973	Disease	p.Pro281Leu	VAR_000981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000981	- Phenylketonuria (PKU) [MIM:261600]	SWISS	136	cd03348	4557819,NP_000268
5053	129973	Disease	p.Pro281Leu	VAR_000981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000981	- Phenylketonuria (PKU) [MIM:261600]	SWISS	133	cd00361	4557819,NP_000268
5053	129973	Disease	p.Asp282Asn	VAR_000982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000982	- Phenylketonuria (PKU) [MIM:261600]	SWISS	163	cd03345	4557819,NP_000268
5053	129973	Disease	p.Asp282Asn	VAR_000982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000982	- Phenylketonuria (PKU) [MIM:261600]	SWISS	164	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Asp282Asn	VAR_000982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000982	- Phenylketonuria (PKU) [MIM:261600]	SWISS	168	cd03347	4557819,NP_000268
5053	129973	Disease	p.Asp282Asn	VAR_000982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000982	- Phenylketonuria (PKU) [MIM:261600]	SWISS	164	cd03346	4557819,NP_000268
5053	129973	Disease	p.Asp282Asn	VAR_000982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000982	- Phenylketonuria (PKU) [MIM:261600]	SWISS	148	COG3186	4557819,NP_000268
5053	129973	Disease	p.Asp282Asn	VAR_000982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000982	- Phenylketonuria (PKU) [MIM:261600]	SWISS	137	cd03348	4557819,NP_000268
5053	129973	Disease	p.Asp282Asn	VAR_000982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000982	- Phenylketonuria (PKU) [MIM:261600]	SWISS	134	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ile283Phe	VAR_000983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000983	- Phenylketonuria (PKU) [MIM:261600]	SWISS	164	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ile283Phe	VAR_000983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000983	- Phenylketonuria (PKU) [MIM:261600]	SWISS	165	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ile283Phe	VAR_000983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000983	- Phenylketonuria (PKU) [MIM:261600]	SWISS	169	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ile283Phe	VAR_000983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000983	- Phenylketonuria (PKU) [MIM:261600]	SWISS	165	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ile283Phe	VAR_000983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000983	- Phenylketonuria (PKU) [MIM:261600]	SWISS	149	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ile283Phe	VAR_000983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000983	- Phenylketonuria (PKU) [MIM:261600]	SWISS	138	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ile283Phe	VAR_000983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000983	- Phenylketonuria (PKU) [MIM:261600]	SWISS	135	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ile283Asn	VAR_000984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000984	- Phenylketonuria (PKU) [MIM:261600]	SWISS	164	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ile283Asn	VAR_000984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000984	- Phenylketonuria (PKU) [MIM:261600]	SWISS	165	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ile283Asn	VAR_000984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000984	- Phenylketonuria (PKU) [MIM:261600]	SWISS	169	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ile283Asn	VAR_000984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000984	- Phenylketonuria (PKU) [MIM:261600]	SWISS	165	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ile283Asn	VAR_000984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000984	- Phenylketonuria (PKU) [MIM:261600]	SWISS	149	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ile283Asn	VAR_000984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000984	- Phenylketonuria (PKU) [MIM:261600]	SWISS	138	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ile283Asn	VAR_000984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000984	- Phenylketonuria (PKU) [MIM:261600]	SWISS	135	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg297Cys	VAR_000985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000985	- Phenylketonuria (PKU) [MIM:261600]	SWISS	178	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg297Cys	VAR_000985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000985	- Phenylketonuria (PKU) [MIM:261600]	SWISS	179	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg297Cys	VAR_000985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000985	- Phenylketonuria (PKU) [MIM:261600]	SWISS	183	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg297Cys	VAR_000985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000985	- Phenylketonuria (PKU) [MIM:261600]	SWISS	179	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg297Cys	VAR_000985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000985	- Phenylketonuria (PKU) [MIM:261600]	SWISS	163	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg297Cys	VAR_000985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000985	- Phenylketonuria (PKU) [MIM:261600]	SWISS	152	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg297Cys	VAR_000985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000985	- Phenylketonuria (PKU) [MIM:261600]	SWISS	149	cd00361	4557819,NP_000268
5053	129973	Disease	p.Arg297His	VAR_000986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000986	- Phenylketonuria (PKU) [MIM:261600]	SWISS	178	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg297His	VAR_000986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000986	- Phenylketonuria (PKU) [MIM:261600]	SWISS	179	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg297His	VAR_000986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000986	- Phenylketonuria (PKU) [MIM:261600]	SWISS	183	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg297His	VAR_000986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000986	- Phenylketonuria (PKU) [MIM:261600]	SWISS	179	cd03346	4557819,NP_000268
5053	129973	Disease	p.Arg297His	VAR_000986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000986	- Phenylketonuria (PKU) [MIM:261600]	SWISS	163	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg297His	VAR_000986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000986	- Phenylketonuria (PKU) [MIM:261600]	SWISS	152	cd03348	4557819,NP_000268
5053	129973	Disease	p.Arg297His	VAR_000986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000986	- Phenylketonuria (PKU) [MIM:261600]	SWISS	149	cd00361	4557819,NP_000268
5053	129973	Disease	p.Phe299Cys	VAR_000987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000987	- Phenylketonuria (PKU) [MIM:261600]	SWISS	180	cd03345	4557819,NP_000268
5053	129973	Disease	p.Phe299Cys	VAR_000987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000987	- Phenylketonuria (PKU) [MIM:261600]	SWISS	181	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Phe299Cys	VAR_000987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000987	- Phenylketonuria (PKU) [MIM:261600]	SWISS	185	cd03347	4557819,NP_000268
5053	129973	Disease	p.Phe299Cys	VAR_000987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000987	- Phenylketonuria (PKU) [MIM:261600]	SWISS	181	cd03346	4557819,NP_000268
5053	129973	Disease	p.Phe299Cys	VAR_000987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000987	- Phenylketonuria (PKU) [MIM:261600]	SWISS	165	COG3186	4557819,NP_000268
5053	129973	Disease	p.Phe299Cys	VAR_000987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000987	- Phenylketonuria (PKU) [MIM:261600]	SWISS	154	cd03348	4557819,NP_000268
5053	129973	Disease	p.Phe299Cys	VAR_000987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000987	- Phenylketonuria (PKU) [MIM:261600]	SWISS	151	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ala300Ser	VAR_000988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000988	- Phenylketonuria (PKU) [MIM:261600]	SWISS	181	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ala300Ser	VAR_000988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000988	- Phenylketonuria (PKU) [MIM:261600]	SWISS	182	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ala300Ser	VAR_000988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000988	- Phenylketonuria (PKU) [MIM:261600]	SWISS	186	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ala300Ser	VAR_000988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000988	- Phenylketonuria (PKU) [MIM:261600]	SWISS	182	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ala300Ser	VAR_000988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000988	- Phenylketonuria (PKU) [MIM:261600]	SWISS	166	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ala300Ser	VAR_000988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000988	- Phenylketonuria (PKU) [MIM:261600]	SWISS	155	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ala300Ser	VAR_000988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000988	- Phenylketonuria (PKU) [MIM:261600]	SWISS	152	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ala300Val	VAR_000989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000989	- Phenylketonuria (PKU) [MIM:261600]	SWISS	181	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ala300Val	VAR_000989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000989	- Phenylketonuria (PKU) [MIM:261600]	SWISS	182	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ala300Val	VAR_000989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000989	- Phenylketonuria (PKU) [MIM:261600]	SWISS	186	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ala300Val	VAR_000989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000989	- Phenylketonuria (PKU) [MIM:261600]	SWISS	182	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ala300Val	VAR_000989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000989	- Phenylketonuria (PKU) [MIM:261600]	SWISS	166	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ala300Val	VAR_000989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000989	- Phenylketonuria (PKU) [MIM:261600]	SWISS	155	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ala300Val	VAR_000989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000989	- Phenylketonuria (PKU) [MIM:261600]	SWISS	152	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ser303Pro	VAR_000990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000990	- Phenylketonuria (PKU) [MIM:261600]	SWISS	184	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ser303Pro	VAR_000990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000990	- Phenylketonuria (PKU) [MIM:261600]	SWISS	185	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ser303Pro	VAR_000990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000990	- Phenylketonuria (PKU) [MIM:261600]	SWISS	189	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ser303Pro	VAR_000990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000990	- Phenylketonuria (PKU) [MIM:261600]	SWISS	185	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ser303Pro	VAR_000990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000990	- Phenylketonuria (PKU) [MIM:261600]	SWISS	169	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ser303Pro	VAR_000990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000990	- Phenylketonuria (PKU) [MIM:261600]	SWISS	158	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ser303Pro	VAR_000990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000990	- Phenylketonuria (PKU) [MIM:261600]	SWISS	155	cd00361	4557819,NP_000268
5053	129973	Disease	p.Gln304Arg	VAR_000991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000991	- Phenylketonuria (PKU) [MIM:261600]	SWISS	185	cd03345	4557819,NP_000268
5053	129973	Disease	p.Gln304Arg	VAR_000991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000991	- Phenylketonuria (PKU) [MIM:261600]	SWISS	186	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Gln304Arg	VAR_000991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000991	- Phenylketonuria (PKU) [MIM:261600]	SWISS	190	cd03347	4557819,NP_000268
5053	129973	Disease	p.Gln304Arg	VAR_000991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000991	- Phenylketonuria (PKU) [MIM:261600]	SWISS	186	cd03346	4557819,NP_000268
5053	129973	Disease	p.Gln304Arg	VAR_000991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000991	- Phenylketonuria (PKU) [MIM:261600]	SWISS	170	COG3186	4557819,NP_000268
5053	129973	Disease	p.Gln304Arg	VAR_000991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000991	- Phenylketonuria (PKU) [MIM:261600]	SWISS	159	cd03348	4557819,NP_000268
5053	129973	Disease	p.Gln304Arg	VAR_000991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000991	- Phenylketonuria (PKU) [MIM:261600]	SWISS	156	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ile306Val	VAR_000992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000992	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	187	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ile306Val	VAR_000992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000992	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	188	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ile306Val	VAR_000992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000992	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	192	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ile306Val	VAR_000992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000992	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	188	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ile306Val	VAR_000992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000992	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	172	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ile306Val	VAR_000992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000992	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	161	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ile306Val	VAR_000992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000992	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	158	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ala309Asp	VAR_000993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000993	- Phenylketonuria (PKU) [MIM:261600]	SWISS	190	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ala309Asp	VAR_000993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000993	- Phenylketonuria (PKU) [MIM:261600]	SWISS	191	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ala309Asp	VAR_000993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000993	- Phenylketonuria (PKU) [MIM:261600]	SWISS	195	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ala309Asp	VAR_000993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000993	- Phenylketonuria (PKU) [MIM:261600]	SWISS	191	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ala309Asp	VAR_000993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000993	- Phenylketonuria (PKU) [MIM:261600]	SWISS	176	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ala309Asp	VAR_000993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000993	- Phenylketonuria (PKU) [MIM:261600]	SWISS	164	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ala309Asp	VAR_000993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000993	- Phenylketonuria (PKU) [MIM:261600]	SWISS	161	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ala309Val	VAR_000994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000994	- Phenylketonuria (PKU) [MIM:261600]	SWISS	190	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ala309Val	VAR_000994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000994	- Phenylketonuria (PKU) [MIM:261600]	SWISS	191	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ala309Val	VAR_000994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000994	- Phenylketonuria (PKU) [MIM:261600]	SWISS	195	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ala309Val	VAR_000994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000994	- Phenylketonuria (PKU) [MIM:261600]	SWISS	191	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ala309Val	VAR_000994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000994	- Phenylketonuria (PKU) [MIM:261600]	SWISS	176	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ala309Val	VAR_000994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000994	- Phenylketonuria (PKU) [MIM:261600]	SWISS	164	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ala309Val	VAR_000994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000994	- Phenylketonuria (PKU) [MIM:261600]	SWISS	161	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ser310Phe	VAR_000995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000995	- Phenylketonuria (PKU) [MIM:261600]	SWISS	191	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ser310Phe	VAR_000995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000995	- Phenylketonuria (PKU) [MIM:261600]	SWISS	192	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ser310Phe	VAR_000995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000995	- Phenylketonuria (PKU) [MIM:261600]	SWISS	196	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ser310Phe	VAR_000995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000995	- Phenylketonuria (PKU) [MIM:261600]	SWISS	192	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ser310Phe	VAR_000995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000995	- Phenylketonuria (PKU) [MIM:261600]	SWISS	177	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ser310Phe	VAR_000995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000995	- Phenylketonuria (PKU) [MIM:261600]	SWISS	165	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ser310Phe	VAR_000995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000995	- Phenylketonuria (PKU) [MIM:261600]	SWISS	162	cd00361	4557819,NP_000268
5053	129973	Disease	p.Leu311Pro	VAR_000996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000996	- Phenylketonuria (PKU) [MIM:261600]	SWISS	192	cd03345	4557819,NP_000268
5053	129973	Disease	p.Leu311Pro	VAR_000996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000996	- Phenylketonuria (PKU) [MIM:261600]	SWISS	193	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Leu311Pro	VAR_000996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000996	- Phenylketonuria (PKU) [MIM:261600]	SWISS	197	cd03347	4557819,NP_000268
5053	129973	Disease	p.Leu311Pro	VAR_000996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000996	- Phenylketonuria (PKU) [MIM:261600]	SWISS	193	cd03346	4557819,NP_000268
5053	129973	Disease	p.Leu311Pro	VAR_000996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000996	- Phenylketonuria (PKU) [MIM:261600]	SWISS	178	COG3186	4557819,NP_000268
5053	129973	Disease	p.Leu311Pro	VAR_000996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000996	- Phenylketonuria (PKU) [MIM:261600]	SWISS	166	cd03348	4557819,NP_000268
5053	129973	Disease	p.Leu311Pro	VAR_000996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000996	- Phenylketonuria (PKU) [MIM:261600]	SWISS	163	cd00361	4557819,NP_000268
5053	129973	Disease	p.Pro314His	VAR_000997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000997	- Phenylketonuria (PKU) [MIM:261600]	SWISS	195	cd03345	4557819,NP_000268
5053	129973	Disease	p.Pro314His	VAR_000997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000997	- Phenylketonuria (PKU) [MIM:261600]	SWISS	196	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Pro314His	VAR_000997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000997	- Phenylketonuria (PKU) [MIM:261600]	SWISS	200	cd03347	4557819,NP_000268
5053	129973	Disease	p.Pro314His	VAR_000997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000997	- Phenylketonuria (PKU) [MIM:261600]	SWISS	196	cd03346	4557819,NP_000268
5053	129973	Disease	p.Pro314His	VAR_000997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000997	- Phenylketonuria (PKU) [MIM:261600]	SWISS	181	COG3186	4557819,NP_000268
5053	129973	Disease	p.Pro314His	VAR_000997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000997	- Phenylketonuria (PKU) [MIM:261600]	SWISS	169	cd03348	4557819,NP_000268
5053	129973	Disease	p.Pro314His	VAR_000997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000997	- Phenylketonuria (PKU) [MIM:261600]	SWISS	166	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ile318Thr	VAR_011574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011574	- Phenylketonuria (PKU) [MIM:261600]	SWISS	199	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ile318Thr	VAR_011574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011574	- Phenylketonuria (PKU) [MIM:261600]	SWISS	200	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ile318Thr	VAR_011574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011574	- Phenylketonuria (PKU) [MIM:261600]	SWISS	204	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ile318Thr	VAR_011574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011574	- Phenylketonuria (PKU) [MIM:261600]	SWISS	200	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ile318Thr	VAR_011574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011574	- Phenylketonuria (PKU) [MIM:261600]	SWISS	185	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ile318Thr	VAR_011574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011574	- Phenylketonuria (PKU) [MIM:261600]	SWISS	176	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ile318Thr	VAR_011574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011574	- Phenylketonuria (PKU) [MIM:261600]	SWISS	215	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ala322Gly	VAR_000998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000998	- Phenylketonuria (PKU) [MIM:261600]	SWISS	203	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ala322Gly	VAR_000998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000998	- Phenylketonuria (PKU) [MIM:261600]	SWISS	204	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ala322Gly	VAR_000998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000998	- Phenylketonuria (PKU) [MIM:261600]	SWISS	208	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ala322Gly	VAR_000998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000998	- Phenylketonuria (PKU) [MIM:261600]	SWISS	204	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ala322Gly	VAR_000998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000998	- Phenylketonuria (PKU) [MIM:261600]	SWISS	204	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ala322Gly	VAR_000998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000998	- Phenylketonuria (PKU) [MIM:261600]	SWISS	180	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ala322Gly	VAR_000998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000998	- Phenylketonuria (PKU) [MIM:261600]	SWISS	219	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ala322Thr	VAR_000999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000999	- Phenylketonuria (PKU) [MIM:261600]	SWISS	203	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ala322Thr	VAR_000999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000999	- Phenylketonuria (PKU) [MIM:261600]	SWISS	204	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ala322Thr	VAR_000999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000999	- Phenylketonuria (PKU) [MIM:261600]	SWISS	208	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ala322Thr	VAR_000999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000999	- Phenylketonuria (PKU) [MIM:261600]	SWISS	204	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ala322Thr	VAR_000999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000999	- Phenylketonuria (PKU) [MIM:261600]	SWISS	204	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ala322Thr	VAR_000999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000999	- Phenylketonuria (PKU) [MIM:261600]	SWISS	180	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ala322Thr	VAR_000999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000999	- Phenylketonuria (PKU) [MIM:261600]	SWISS	219	cd00361	4557819,NP_000268
5053	129973	Disease	p.Tyr325Cys	VAR_009245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009245	- Phenylketonuria (PKU) [MIM:261600]	SWISS	206	cd03345	4557819,NP_000268
5053	129973	Disease	p.Tyr325Cys	VAR_009245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009245	- Phenylketonuria (PKU) [MIM:261600]	SWISS	207	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Tyr325Cys	VAR_009245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009245	- Phenylketonuria (PKU) [MIM:261600]	SWISS	211	cd03347	4557819,NP_000268
5053	129973	Disease	p.Tyr325Cys	VAR_009245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009245	- Phenylketonuria (PKU) [MIM:261600]	SWISS	207	cd03346	4557819,NP_000268
5053	129973	Disease	p.Tyr325Cys	VAR_009245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009245	- Phenylketonuria (PKU) [MIM:261600]	SWISS	207	COG3186	4557819,NP_000268
5053	129973	Disease	p.Tyr325Cys	VAR_009245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009245	- Phenylketonuria (PKU) [MIM:261600]	SWISS	183	cd03348	4557819,NP_000268
5053	129973	Disease	p.Tyr325Cys	VAR_009245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009245	- Phenylketonuria (PKU) [MIM:261600]	SWISS	222	cd00361	4557819,NP_000268
5053	129973	Disease	p.Glu330Asp	VAR_009246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009246	- Phenylketonuria (PKU) [MIM:261600]	SWISS	211	cd03345	4557819,NP_000268
5053	129973	Disease	p.Glu330Asp	VAR_009246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009246	- Phenylketonuria (PKU) [MIM:261600]	SWISS	212	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Glu330Asp	VAR_009246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009246	- Phenylketonuria (PKU) [MIM:261600]	SWISS	216	cd03347	4557819,NP_000268
5053	129973	Disease	p.Glu330Asp	VAR_009246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009246	- Phenylketonuria (PKU) [MIM:261600]	SWISS	212	cd03346	4557819,NP_000268
5053	129973	Disease	p.Glu330Asp	VAR_009246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009246	- Phenylketonuria (PKU) [MIM:261600]	SWISS	212	COG3186	4557819,NP_000268
5053	129973	Disease	p.Glu330Asp	VAR_009246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009246	- Phenylketonuria (PKU) [MIM:261600]	SWISS	188	cd03348	4557819,NP_000268
5053	129973	Disease	p.Glu330Asp	VAR_009246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009246	- Phenylketonuria (PKU) [MIM:261600]	SWISS	227	cd00361	4557819,NP_000268
5053	129973	Disease	p.Phe331Leu	VAR_001000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001000	- Phenylketonuria (PKU) [MIM:261600]	SWISS	212	cd03345	4557819,NP_000268
5053	129973	Disease	p.Phe331Leu	VAR_001000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001000	- Phenylketonuria (PKU) [MIM:261600]	SWISS	213	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Phe331Leu	VAR_001000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001000	- Phenylketonuria (PKU) [MIM:261600]	SWISS	217	cd03347	4557819,NP_000268
5053	129973	Disease	p.Phe331Leu	VAR_001000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001000	- Phenylketonuria (PKU) [MIM:261600]	SWISS	213	cd03346	4557819,NP_000268
5053	129973	Disease	p.Phe331Leu	VAR_001000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001000	- Phenylketonuria (PKU) [MIM:261600]	SWISS	213	COG3186	4557819,NP_000268
5053	129973	Disease	p.Phe331Leu	VAR_001000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001000	- Phenylketonuria (PKU) [MIM:261600]	SWISS	189	cd03348	4557819,NP_000268
5053	129973	Disease	p.Phe331Leu	VAR_001000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001000	- Phenylketonuria (PKU) [MIM:261600]	SWISS	228	cd00361	4557819,NP_000268
5053	129973	Disease	p.Leu333Phe	VAR_001001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001001	- Phenylketonuria (PKU) [MIM:261600]	SWISS	214	cd03345	4557819,NP_000268
5053	129973	Disease	p.Leu333Phe	VAR_001001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001001	- Phenylketonuria (PKU) [MIM:261600]	SWISS	215	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Leu333Phe	VAR_001001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001001	- Phenylketonuria (PKU) [MIM:261600]	SWISS	219	cd03347	4557819,NP_000268
5053	129973	Disease	p.Leu333Phe	VAR_001001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001001	- Phenylketonuria (PKU) [MIM:261600]	SWISS	215	cd03346	4557819,NP_000268
5053	129973	Disease	p.Leu333Phe	VAR_001001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001001	- Phenylketonuria (PKU) [MIM:261600]	SWISS	215	COG3186	4557819,NP_000268
5053	129973	Disease	p.Leu333Phe	VAR_001001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001001	- Phenylketonuria (PKU) [MIM:261600]	SWISS	191	cd03348	4557819,NP_000268
5053	129973	Disease	p.Leu333Phe	VAR_001001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001001	- Phenylketonuria (PKU) [MIM:261600]	SWISS	230	cd00361	4557819,NP_000268
5053	129973	Disease	p.Cys334Ser	VAR_001002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001002	- Phenylketonuria (PKU) [MIM:261600]	SWISS	215	cd03345	4557819,NP_000268
5053	129973	Disease	p.Cys334Ser	VAR_001002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001002	- Phenylketonuria (PKU) [MIM:261600]	SWISS	216	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Cys334Ser	VAR_001002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001002	- Phenylketonuria (PKU) [MIM:261600]	SWISS	220	cd03347	4557819,NP_000268
5053	129973	Disease	p.Cys334Ser	VAR_001002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001002	- Phenylketonuria (PKU) [MIM:261600]	SWISS	216	cd03346	4557819,NP_000268
5053	129973	Disease	p.Cys334Ser	VAR_001002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001002	- Phenylketonuria (PKU) [MIM:261600]	SWISS	216	COG3186	4557819,NP_000268
5053	129973	Disease	p.Cys334Ser	VAR_001002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001002	- Phenylketonuria (PKU) [MIM:261600]	SWISS	192	cd03348	4557819,NP_000268
5053	129973	Disease	p.Cys334Ser	VAR_001002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001002	- Phenylketonuria (PKU) [MIM:261600]	SWISS	231	cd00361	4557819,NP_000268
5053	129973	Disease	p.Gly337Val	VAR_001003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001003	- Phenylketonuria (PKU) [MIM:261600]	SWISS	218	cd03345	4557819,NP_000268
5053	129973	Disease	p.Gly337Val	VAR_001003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001003	- Phenylketonuria (PKU) [MIM:261600]	SWISS	219	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Gly337Val	VAR_001003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001003	- Phenylketonuria (PKU) [MIM:261600]	SWISS	223	cd03347	4557819,NP_000268
5053	129973	Disease	p.Gly337Val	VAR_001003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001003	- Phenylketonuria (PKU) [MIM:261600]	SWISS	219	cd03346	4557819,NP_000268
5053	129973	Disease	p.Gly337Val	VAR_001003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001003	- Phenylketonuria (PKU) [MIM:261600]	SWISS	219	COG3186	4557819,NP_000268
5053	129973	Disease	p.Gly337Val	VAR_001003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001003	- Phenylketonuria (PKU) [MIM:261600]	SWISS	195	cd03348	4557819,NP_000268
5053	129973	Disease	p.Gly337Val	VAR_001003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001003	- Phenylketonuria (PKU) [MIM:261600]	SWISS	234	cd00361	4557819,NP_000268
5053	129973	Disease	p.Asp338Tyr	VAR_001004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001004	- Phenylketonuria (PKU) [MIM:261600]	SWISS	219	cd03345	4557819,NP_000268
5053	129973	Disease	p.Asp338Tyr	VAR_001004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001004	- Phenylketonuria (PKU) [MIM:261600]	SWISS	220	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Asp338Tyr	VAR_001004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001004	- Phenylketonuria (PKU) [MIM:261600]	SWISS	224	cd03347	4557819,NP_000268
5053	129973	Disease	p.Asp338Tyr	VAR_001004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001004	- Phenylketonuria (PKU) [MIM:261600]	SWISS	220	cd03346	4557819,NP_000268
5053	129973	Disease	p.Asp338Tyr	VAR_001004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001004	- Phenylketonuria (PKU) [MIM:261600]	SWISS	220	COG3186	4557819,NP_000268
5053	129973	Disease	p.Asp338Tyr	VAR_001004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001004	- Phenylketonuria (PKU) [MIM:261600]	SWISS	196	cd03348	4557819,NP_000268
5053	129973	Disease	p.Asp338Tyr	VAR_001004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001004	- Phenylketonuria (PKU) [MIM:261600]	SWISS	235	cd00361	4557819,NP_000268
5053	129973	Disease	p.Lys341Arg	VAR_001005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001005	- Phenylketonuria (PKU) [MIM:261600]	SWISS	222	cd03345	4557819,NP_000268
5053	129973	Disease	p.Lys341Arg	VAR_001005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001005	- Phenylketonuria (PKU) [MIM:261600]	SWISS	223	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Lys341Arg	VAR_001005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001005	- Phenylketonuria (PKU) [MIM:261600]	SWISS	227	cd03347	4557819,NP_000268
5053	129973	Disease	p.Lys341Arg	VAR_001005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001005	- Phenylketonuria (PKU) [MIM:261600]	SWISS	236	cd03346	4557819,NP_000268
5053	129973	Disease	p.Lys341Arg	VAR_001005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001005	- Phenylketonuria (PKU) [MIM:261600]	SWISS	224	COG3186	4557819,NP_000268
5053	129973	Disease	p.Lys341Arg	VAR_001005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001005	- Phenylketonuria (PKU) [MIM:261600]	SWISS	200	cd03348	4557819,NP_000268
5053	129973	Disease	p.Lys341Arg	VAR_001005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001005	- Phenylketonuria (PKU) [MIM:261600]	SWISS	251	cd00361	4557819,NP_000268
5053	129973	Disease	p.Lys341Thr	VAR_001006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001006	- Phenylketonuria (PKU) [MIM:261600]	SWISS	222	cd03345	4557819,NP_000268
5053	129973	Disease	p.Lys341Thr	VAR_001006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001006	- Phenylketonuria (PKU) [MIM:261600]	SWISS	223	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Lys341Thr	VAR_001006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001006	- Phenylketonuria (PKU) [MIM:261600]	SWISS	227	cd03347	4557819,NP_000268
5053	129973	Disease	p.Lys341Thr	VAR_001006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001006	- Phenylketonuria (PKU) [MIM:261600]	SWISS	236	cd03346	4557819,NP_000268
5053	129973	Disease	p.Lys341Thr	VAR_001006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001006	- Phenylketonuria (PKU) [MIM:261600]	SWISS	224	COG3186	4557819,NP_000268
5053	129973	Disease	p.Lys341Thr	VAR_001006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001006	- Phenylketonuria (PKU) [MIM:261600]	SWISS	200	cd03348	4557819,NP_000268
5053	129973	Disease	p.Lys341Thr	VAR_001006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001006	- Phenylketonuria (PKU) [MIM:261600]	SWISS	251	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ala342Thr	VAR_001007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001007	- Phenylketonuria (PKU) [MIM:261600]	SWISS	223	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ala342Thr	VAR_001007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001007	- Phenylketonuria (PKU) [MIM:261600]	SWISS	224	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ala342Thr	VAR_001007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001007	- Phenylketonuria (PKU) [MIM:261600]	SWISS	228	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ala342Thr	VAR_001007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001007	- Phenylketonuria (PKU) [MIM:261600]	SWISS	237	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ala342Thr	VAR_001007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001007	- Phenylketonuria (PKU) [MIM:261600]	SWISS	225	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ala342Thr	VAR_001007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001007	- Phenylketonuria (PKU) [MIM:261600]	SWISS	201	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ala342Thr	VAR_001007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001007	- Phenylketonuria (PKU) [MIM:261600]	SWISS	252	cd00361	4557819,NP_000268
5053	129973	Disease	p.Tyr343Cys	VAR_001008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001008	- Phenylketonuria (PKU) [MIM:261600]	SWISS	224	cd03345	4557819,NP_000268
5053	129973	Disease	p.Tyr343Cys	VAR_001008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001008	- Phenylketonuria (PKU) [MIM:261600]	SWISS	225	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Tyr343Cys	VAR_001008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001008	- Phenylketonuria (PKU) [MIM:261600]	SWISS	229	cd03347	4557819,NP_000268
5053	129973	Disease	p.Tyr343Cys	VAR_001008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001008	- Phenylketonuria (PKU) [MIM:261600]	SWISS	238	cd03346	4557819,NP_000268
5053	129973	Disease	p.Tyr343Cys	VAR_001008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001008	- Phenylketonuria (PKU) [MIM:261600]	SWISS	226	COG3186	4557819,NP_000268
5053	129973	Disease	p.Tyr343Cys	VAR_001008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001008	- Phenylketonuria (PKU) [MIM:261600]	SWISS	202	cd03348	4557819,NP_000268
5053	129973	Disease	p.Tyr343Cys	VAR_001008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001008	- Phenylketonuria (PKU) [MIM:261600]	SWISS	253	cd00361	4557819,NP_000268
5053	129973	Disease	p.Gly344Arg	VAR_009247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009247	- Phenylketonuria (PKU) [MIM:261600]	SWISS	225	cd03345	4557819,NP_000268
5053	129973	Disease	p.Gly344Arg	VAR_009247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009247	- Phenylketonuria (PKU) [MIM:261600]	SWISS	226	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Gly344Arg	VAR_009247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009247	- Phenylketonuria (PKU) [MIM:261600]	SWISS	230	cd03347	4557819,NP_000268
5053	129973	Disease	p.Gly344Arg	VAR_009247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009247	- Phenylketonuria (PKU) [MIM:261600]	SWISS	239	cd03346	4557819,NP_000268
5053	129973	Disease	p.Gly344Arg	VAR_009247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009247	- Phenylketonuria (PKU) [MIM:261600]	SWISS	227	COG3186	4557819,NP_000268
5053	129973	Disease	p.Gly344Arg	VAR_009247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009247	- Phenylketonuria (PKU) [MIM:261600]	SWISS	203	cd03348	4557819,NP_000268
5053	129973	Disease	p.Gly344Arg	VAR_009247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009247	- Phenylketonuria (PKU) [MIM:261600]	SWISS	254	cd00361	4557819,NP_000268
5053	129973	Disease	p.Gly344Val	VAR_009248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009248	- Phenylketonuria (PKU) [MIM:261600]	SWISS	225	cd03345	4557819,NP_000268
5053	129973	Disease	p.Gly344Val	VAR_009248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009248	- Phenylketonuria (PKU) [MIM:261600]	SWISS	226	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Gly344Val	VAR_009248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009248	- Phenylketonuria (PKU) [MIM:261600]	SWISS	230	cd03347	4557819,NP_000268
5053	129973	Disease	p.Gly344Val	VAR_009248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009248	- Phenylketonuria (PKU) [MIM:261600]	SWISS	239	cd03346	4557819,NP_000268
5053	129973	Disease	p.Gly344Val	VAR_009248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009248	- Phenylketonuria (PKU) [MIM:261600]	SWISS	227	COG3186	4557819,NP_000268
5053	129973	Disease	p.Gly344Val	VAR_009248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009248	- Phenylketonuria (PKU) [MIM:261600]	SWISS	203	cd03348	4557819,NP_000268
5053	129973	Disease	p.Gly344Val	VAR_009248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009248	- Phenylketonuria (PKU) [MIM:261600]	SWISS	254	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ala345Ser	VAR_001009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001009	- Phenylketonuria (PKU) [MIM:261600]	SWISS	226	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ala345Ser	VAR_001009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001009	- Phenylketonuria (PKU) [MIM:261600]	SWISS	227	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ala345Ser	VAR_001009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001009	- Phenylketonuria (PKU) [MIM:261600]	SWISS	231	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ala345Ser	VAR_001009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001009	- Phenylketonuria (PKU) [MIM:261600]	SWISS	240	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ala345Ser	VAR_001009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001009	- Phenylketonuria (PKU) [MIM:261600]	SWISS	228	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ala345Ser	VAR_001009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001009	- Phenylketonuria (PKU) [MIM:261600]	SWISS	204	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ala345Ser	VAR_001009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001009	- Phenylketonuria (PKU) [MIM:261600]	SWISS	255	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ala345Thr	VAR_001010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001010	- Phenylketonuria (PKU) [MIM:261600]	SWISS	226	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ala345Thr	VAR_001010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001010	- Phenylketonuria (PKU) [MIM:261600]	SWISS	227	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ala345Thr	VAR_001010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001010	- Phenylketonuria (PKU) [MIM:261600]	SWISS	231	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ala345Thr	VAR_001010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001010	- Phenylketonuria (PKU) [MIM:261600]	SWISS	240	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ala345Thr	VAR_001010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001010	- Phenylketonuria (PKU) [MIM:261600]	SWISS	228	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ala345Thr	VAR_001010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001010	- Phenylketonuria (PKU) [MIM:261600]	SWISS	204	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ala345Thr	VAR_001010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001010	- Phenylketonuria (PKU) [MIM:261600]	SWISS	255	cd00361	4557819,NP_000268
5053	129973	Disease	p.Leu347Phe	VAR_001011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001011	- Phenylketonuria (PKU) [MIM:261600]	SWISS	228	cd03345	4557819,NP_000268
5053	129973	Disease	p.Leu347Phe	VAR_001011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001011	- Phenylketonuria (PKU) [MIM:261600]	SWISS	229	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Leu347Phe	VAR_001011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001011	- Phenylketonuria (PKU) [MIM:261600]	SWISS	233	cd03347	4557819,NP_000268
5053	129973	Disease	p.Leu347Phe	VAR_001011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001011	- Phenylketonuria (PKU) [MIM:261600]	SWISS	242	cd03346	4557819,NP_000268
5053	129973	Disease	p.Leu347Phe	VAR_001011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001011	- Phenylketonuria (PKU) [MIM:261600]	SWISS	230	COG3186	4557819,NP_000268
5053	129973	Disease	p.Leu347Phe	VAR_001011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001011	- Phenylketonuria (PKU) [MIM:261600]	SWISS	206	cd03348	4557819,NP_000268
5053	129973	Disease	p.Leu347Phe	VAR_001011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001011	- Phenylketonuria (PKU) [MIM:261600]	SWISS	257	cd00361	4557819,NP_000268
5053	129973	Disease	p.Leu348Val	VAR_001012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001012	- Phenylketonuria (PKU) [MIM:261600]	SWISS	229	cd03345	4557819,NP_000268
5053	129973	Disease	p.Leu348Val	VAR_001012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001012	- Phenylketonuria (PKU) [MIM:261600]	SWISS	230	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Leu348Val	VAR_001012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001012	- Phenylketonuria (PKU) [MIM:261600]	SWISS	234	cd03347	4557819,NP_000268
5053	129973	Disease	p.Leu348Val	VAR_001012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001012	- Phenylketonuria (PKU) [MIM:261600]	SWISS	243	cd03346	4557819,NP_000268
5053	129973	Disease	p.Leu348Val	VAR_001012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001012	- Phenylketonuria (PKU) [MIM:261600]	SWISS	231	COG3186	4557819,NP_000268
5053	129973	Disease	p.Leu348Val	VAR_001012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001012	- Phenylketonuria (PKU) [MIM:261600]	SWISS	207	cd03348	4557819,NP_000268
5053	129973	Disease	p.Leu348Val	VAR_001012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001012	- Phenylketonuria (PKU) [MIM:261600]	SWISS	258	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ser349Leu	VAR_001013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001013	- Phenylketonuria (PKU) [MIM:261600]	SWISS	230	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ser349Leu	VAR_001013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001013	- Phenylketonuria (PKU) [MIM:261600]	SWISS	231	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ser349Leu	VAR_001013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001013	- Phenylketonuria (PKU) [MIM:261600]	SWISS	235	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ser349Leu	VAR_001013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001013	- Phenylketonuria (PKU) [MIM:261600]	SWISS	244	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ser349Leu	VAR_001013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001013	- Phenylketonuria (PKU) [MIM:261600]	SWISS	232	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ser349Leu	VAR_001013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001013	- Phenylketonuria (PKU) [MIM:261600]	SWISS	208	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ser349Leu	VAR_001013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001013	- Phenylketonuria (PKU) [MIM:261600]	SWISS	259	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ser349Pro	VAR_001014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001014	- Phenylketonuria (PKU) [MIM:261600]	SWISS	230	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ser349Pro	VAR_001014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001014	- Phenylketonuria (PKU) [MIM:261600]	SWISS	231	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ser349Pro	VAR_001014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001014	- Phenylketonuria (PKU) [MIM:261600]	SWISS	235	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ser349Pro	VAR_001014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001014	- Phenylketonuria (PKU) [MIM:261600]	SWISS	244	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ser349Pro	VAR_001014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001014	- Phenylketonuria (PKU) [MIM:261600]	SWISS	232	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ser349Pro	VAR_001014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001014	- Phenylketonuria (PKU) [MIM:261600]	SWISS	208	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ser349Pro	VAR_001014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001014	- Phenylketonuria (PKU) [MIM:261600]	SWISS	259	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ser350Thr	VAR_001015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001015	- Phenylketonuria (PKU) [MIM:261600]	SWISS	231	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ser350Thr	VAR_001015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001015	- Phenylketonuria (PKU) [MIM:261600]	SWISS	232	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ser350Thr	VAR_001015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001015	- Phenylketonuria (PKU) [MIM:261600]	SWISS	236	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ser350Thr	VAR_001015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001015	- Phenylketonuria (PKU) [MIM:261600]	SWISS	245	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ser350Thr	VAR_001015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001015	- Phenylketonuria (PKU) [MIM:261600]	SWISS	233	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ser350Thr	VAR_001015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001015	- Phenylketonuria (PKU) [MIM:261600]	SWISS	209	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ser350Thr	VAR_001015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001015	- Phenylketonuria (PKU) [MIM:261600]	SWISS	260	cd00361	4557819,NP_000268
5053	129973	Disease	p.Cys357Gly	VAR_011575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011575	- Phenylketonuria (PKU) [MIM:261600]	SWISS	238	cd03345	4557819,NP_000268
5053	129973	Disease	p.Cys357Gly	VAR_011575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011575	- Phenylketonuria (PKU) [MIM:261600]	SWISS	239	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Cys357Gly	VAR_011575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011575	- Phenylketonuria (PKU) [MIM:261600]	SWISS	243	cd03347	4557819,NP_000268
5053	129973	Disease	p.Cys357Gly	VAR_011575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011575	- Phenylketonuria (PKU) [MIM:261600]	SWISS	252	cd03346	4557819,NP_000268
5053	129973	Disease	p.Cys357Gly	VAR_011575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011575	- Phenylketonuria (PKU) [MIM:261600]	SWISS	240	COG3186	4557819,NP_000268
5053	129973	Disease	p.Cys357Gly	VAR_011575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011575	- Phenylketonuria (PKU) [MIM:261600]	SWISS	216	cd03348	4557819,NP_000268
5053	129973	Disease	p.Cys357Gly	VAR_011575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011575	- Phenylketonuria (PKU) [MIM:261600]	SWISS	267	cd00361	4557819,NP_000268
5053	129973	Disease	p.Pro362Thr	VAR_001016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001016	- Phenylketonuria (PKU) [MIM:261600]	SWISS	243	cd03345	4557819,NP_000268
5053	129973	Disease	p.Pro362Thr	VAR_001016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001016	- Phenylketonuria (PKU) [MIM:261600]	SWISS	244	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Pro362Thr	VAR_001016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001016	- Phenylketonuria (PKU) [MIM:261600]	SWISS	248	cd03347	4557819,NP_000268
5053	129973	Disease	p.Pro362Thr	VAR_001016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001016	- Phenylketonuria (PKU) [MIM:261600]	SWISS	257	cd03346	4557819,NP_000268
5053	129973	Disease	p.Pro362Thr	VAR_001016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001016	- Phenylketonuria (PKU) [MIM:261600]	SWISS	246	COG3186	4557819,NP_000268
5053	129973	Disease	p.Pro362Thr	VAR_001016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001016	- Phenylketonuria (PKU) [MIM:261600]	SWISS	222	cd03348	4557819,NP_000268
5053	129973	Disease	p.Pro362Thr	VAR_001016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001016	- Phenylketonuria (PKU) [MIM:261600]	SWISS	273	cd00361	4557819,NP_000268
5053	129973	Disease	p.Pro366His	VAR_001019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001019	- Phenylketonuria (PKU) [MIM:261600]	SWISS	247	cd03345	4557819,NP_000268
5053	129973	Disease	p.Pro366His	VAR_001019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001019	- Phenylketonuria (PKU) [MIM:261600]	SWISS	248	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Pro366His	VAR_001019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001019	- Phenylketonuria (PKU) [MIM:261600]	SWISS	252	cd03347	4557819,NP_000268
5053	129973	Disease	p.Pro366His	VAR_001019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001019	- Phenylketonuria (PKU) [MIM:261600]	SWISS	261	cd03346	4557819,NP_000268
5053	129973	Disease	p.Pro366His	VAR_001019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001019	- Phenylketonuria (PKU) [MIM:261600]	SWISS	250	COG3186	4557819,NP_000268
5053	129973	Disease	p.Pro366His	VAR_001019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001019	- Phenylketonuria (PKU) [MIM:261600]	SWISS	226	cd03348	4557819,NP_000268
5053	129973	Disease	p.Pro366His	VAR_001019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001019	- Phenylketonuria (PKU) [MIM:261600]	SWISS	277	cd00361	4557819,NP_000268
5053	129973	Disease	p.Thr372Ser	VAR_001020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001020	- Phenylketonuria (PKU) [MIM:261600]	SWISS	253	cd03345	4557819,NP_000268
5053	129973	Disease	p.Thr372Ser	VAR_001020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001020	- Phenylketonuria (PKU) [MIM:261600]	SWISS	254	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Thr372Ser	VAR_001020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001020	- Phenylketonuria (PKU) [MIM:261600]	SWISS	258	cd03347	4557819,NP_000268
5053	129973	Disease	p.Thr372Ser	VAR_001020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001020	- Phenylketonuria (PKU) [MIM:261600]	SWISS	267	cd03346	4557819,NP_000268
5053	129973	Disease	p.Thr372Ser	VAR_001020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001020	- Phenylketonuria (PKU) [MIM:261600]	SWISS	256	COG3186	4557819,NP_000268
5053	129973	Disease	p.Thr372Ser	VAR_001020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001020	- Phenylketonuria (PKU) [MIM:261600]	SWISS	233	cd03348	4557819,NP_000268
5053	129973	Disease	p.Thr372Ser	VAR_001020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001020	- Phenylketonuria (PKU) [MIM:261600]	SWISS	284	cd00361	4557819,NP_000268
5053	129973	Disease	p.Tyr377Cys	VAR_001021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001021	- Phenylketonuria (PKU) [MIM:261600]	SWISS	258	cd03345	4557819,NP_000268
5053	129973	Disease	p.Tyr377Cys	VAR_001021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001021	- Phenylketonuria (PKU) [MIM:261600]	SWISS	259	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Tyr377Cys	VAR_001021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001021	- Phenylketonuria (PKU) [MIM:261600]	SWISS	263	cd03347	4557819,NP_000268
5053	129973	Disease	p.Tyr377Cys	VAR_001021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001021	- Phenylketonuria (PKU) [MIM:261600]	SWISS	272	cd03346	4557819,NP_000268
5053	129973	Disease	p.Tyr377Cys	VAR_001021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001021	- Phenylketonuria (PKU) [MIM:261600]	SWISS	261	COG3186	4557819,NP_000268
5053	129973	Disease	p.Tyr377Cys	VAR_001021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001021	- Phenylketonuria (PKU) [MIM:261600]	SWISS	238	cd03348	4557819,NP_000268
5053	129973	Disease	p.Tyr377Cys	VAR_001021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001021	- Phenylketonuria (PKU) [MIM:261600]	SWISS	289	cd00361	4557819,NP_000268
5053	129973	Disease	p.Thr380Met	VAR_001022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001022	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	261	cd03345	4557819,NP_000268
5053	129973	Disease	p.Thr380Met	VAR_001022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001022	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	262	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Thr380Met	VAR_001022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001022	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	266	cd03347	4557819,NP_000268
5053	129973	Disease	p.Thr380Met	VAR_001022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001022	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	275	cd03346	4557819,NP_000268
5053	129973	Disease	p.Thr380Met	VAR_001022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001022	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	264	COG3186	4557819,NP_000268
5053	129973	Disease	p.Thr380Met	VAR_001022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001022	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	241	cd03348	4557819,NP_000268
5053	129973	Disease	p.Thr380Met	VAR_001022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001022	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	292	cd00361	4557819,NP_000268
5053	129973	Disease	p.Tyr386Cys	VAR_001023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001023	- Phenylketonuria (PKU) [MIM:261600]	SWISS	267	cd03345	4557819,NP_000268
5053	129973	Disease	p.Tyr386Cys	VAR_001023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001023	- Phenylketonuria (PKU) [MIM:261600]	SWISS	268	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Tyr386Cys	VAR_001023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001023	- Phenylketonuria (PKU) [MIM:261600]	SWISS	272	cd03347	4557819,NP_000268
5053	129973	Disease	p.Tyr386Cys	VAR_001023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001023	- Phenylketonuria (PKU) [MIM:261600]	SWISS	281	cd03346	4557819,NP_000268
5053	129973	Disease	p.Tyr386Cys	VAR_001023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001023	- Phenylketonuria (PKU) [MIM:261600]	SWISS	270	COG3186	4557819,NP_000268
5053	129973	Disease	p.Tyr386Cys	VAR_001023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001023	- Phenylketonuria (PKU) [MIM:261600]	SWISS	247	cd03348	4557819,NP_000268
5053	129973	Disease	p.Tyr386Cys	VAR_001023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001023	- Phenylketonuria (PKU) [MIM:261600]	SWISS	298	cd00361	4557819,NP_000268
5053	129973	Disease	p.Tyr387His	VAR_001024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001024	- Phenylketonuria (PKU) [MIM:261600]	SWISS	268	cd03345	4557819,NP_000268
5053	129973	Disease	p.Tyr387His	VAR_001024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001024	- Phenylketonuria (PKU) [MIM:261600]	SWISS	269	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Tyr387His	VAR_001024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001024	- Phenylketonuria (PKU) [MIM:261600]	SWISS	273	cd03347	4557819,NP_000268
5053	129973	Disease	p.Tyr387His	VAR_001024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001024	- Phenylketonuria (PKU) [MIM:261600]	SWISS	282	cd03346	4557819,NP_000268
5053	129973	Disease	p.Tyr387His	VAR_001024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001024	- Phenylketonuria (PKU) [MIM:261600]	SWISS	271	COG3186	4557819,NP_000268
5053	129973	Disease	p.Tyr387His	VAR_001024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001024	- Phenylketonuria (PKU) [MIM:261600]	SWISS	248	cd03348	4557819,NP_000268
5053	129973	Disease	p.Tyr387His	VAR_001024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001024	- Phenylketonuria (PKU) [MIM:261600]	SWISS	299	cd00361	4557819,NP_000268
5053	129973	Disease	p.Val388Leu	VAR_001025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001025	- Phenylketonuria (PKU) [MIM:261600]	SWISS	269	cd03345	4557819,NP_000268
5053	129973	Disease	p.Val388Leu	VAR_001025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001025	- Phenylketonuria (PKU) [MIM:261600]	SWISS	270	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Val388Leu	VAR_001025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001025	- Phenylketonuria (PKU) [MIM:261600]	SWISS	274	cd03347	4557819,NP_000268
5053	129973	Disease	p.Val388Leu	VAR_001025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001025	- Phenylketonuria (PKU) [MIM:261600]	SWISS	283	cd03346	4557819,NP_000268
5053	129973	Disease	p.Val388Leu	VAR_001025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001025	- Phenylketonuria (PKU) [MIM:261600]	SWISS	272	COG3186	4557819,NP_000268
5053	129973	Disease	p.Val388Leu	VAR_001025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001025	- Phenylketonuria (PKU) [MIM:261600]	SWISS	249	cd03348	4557819,NP_000268
5053	129973	Disease	p.Val388Leu	VAR_001025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001025	- Phenylketonuria (PKU) [MIM:261600]	SWISS	300	cd00361	4557819,NP_000268
5053	129973	Disease	p.Val388Met	VAR_001026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001026	- Phenylketonuria (PKU) [MIM:261600]	SWISS	269	cd03345	4557819,NP_000268
5053	129973	Disease	p.Val388Met	VAR_001026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001026	- Phenylketonuria (PKU) [MIM:261600]	SWISS	270	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Val388Met	VAR_001026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001026	- Phenylketonuria (PKU) [MIM:261600]	SWISS	274	cd03347	4557819,NP_000268
5053	129973	Disease	p.Val388Met	VAR_001026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001026	- Phenylketonuria (PKU) [MIM:261600]	SWISS	283	cd03346	4557819,NP_000268
5053	129973	Disease	p.Val388Met	VAR_001026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001026	- Phenylketonuria (PKU) [MIM:261600]	SWISS	272	COG3186	4557819,NP_000268
5053	129973	Disease	p.Val388Met	VAR_001026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001026	- Phenylketonuria (PKU) [MIM:261600]	SWISS	249	cd03348	4557819,NP_000268
5053	129973	Disease	p.Val388Met	VAR_001026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001026	- Phenylketonuria (PKU) [MIM:261600]	SWISS	300	cd00361	4557819,NP_000268
5053	129973	Disease	p.Glu390Gly	VAR_001027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001027	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	271	cd03345	4557819,NP_000268
5053	129973	Disease	p.Glu390Gly	VAR_001027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001027	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	272	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Glu390Gly	VAR_001027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001027	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	276	cd03347	4557819,NP_000268
5053	129973	Disease	p.Glu390Gly	VAR_001027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001027	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	285	cd03346	4557819,NP_000268
5053	129973	Disease	p.Glu390Gly	VAR_001027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001027	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	274	COG3186	4557819,NP_000268
5053	129973	Disease	p.Glu390Gly	VAR_001027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001027	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	251	cd03348	4557819,NP_000268
5053	129973	Disease	p.Glu390Gly	VAR_001027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001027	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	302	cd00361	4557819,NP_000268
5053	129973	Disease	p.Asp394Ala	VAR_001028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001028	- Phenylketonuria (PKU) [MIM:261600]	SWISS	275	cd03345	4557819,NP_000268
5053	129973	Disease	p.Asp394Ala	VAR_001028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001028	- Phenylketonuria (PKU) [MIM:261600]	SWISS	276	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Asp394Ala	VAR_001028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001028	- Phenylketonuria (PKU) [MIM:261600]	SWISS	280	cd03347	4557819,NP_000268
5053	129973	Disease	p.Asp394Ala	VAR_001028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001028	- Phenylketonuria (PKU) [MIM:261600]	SWISS	289	cd03346	4557819,NP_000268
5053	129973	Disease	p.Asp394Ala	VAR_001028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001028	- Phenylketonuria (PKU) [MIM:261600]	SWISS	278	COG3186	4557819,NP_000268
5053	129973	Disease	p.Asp394Ala	VAR_001028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001028	- Phenylketonuria (PKU) [MIM:261600]	SWISS	255	cd03348	4557819,NP_000268
5053	129973	Disease	p.Asp394Ala	VAR_001028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001028	- Phenylketonuria (PKU) [MIM:261600]	SWISS	306	cd00361	4557819,NP_000268
5053	129973	Disease	p.Asp394His	VAR_001029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001029	- Phenylketonuria (PKU) [MIM:261600]	SWISS	275	cd03345	4557819,NP_000268
5053	129973	Disease	p.Asp394His	VAR_001029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001029	- Phenylketonuria (PKU) [MIM:261600]	SWISS	276	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Asp394His	VAR_001029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001029	- Phenylketonuria (PKU) [MIM:261600]	SWISS	280	cd03347	4557819,NP_000268
5053	129973	Disease	p.Asp394His	VAR_001029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001029	- Phenylketonuria (PKU) [MIM:261600]	SWISS	289	cd03346	4557819,NP_000268
5053	129973	Disease	p.Asp394His	VAR_001029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001029	- Phenylketonuria (PKU) [MIM:261600]	SWISS	278	COG3186	4557819,NP_000268
5053	129973	Disease	p.Asp394His	VAR_001029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001029	- Phenylketonuria (PKU) [MIM:261600]	SWISS	255	cd03348	4557819,NP_000268
5053	129973	Disease	p.Asp394His	VAR_001029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001029	- Phenylketonuria (PKU) [MIM:261600]	SWISS	306	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ala395Gly	VAR_001030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001030	- Phenylketonuria (PKU) [MIM:261600]	SWISS	276	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ala395Gly	VAR_001030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001030	- Phenylketonuria (PKU) [MIM:261600]	SWISS	277	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ala395Gly	VAR_001030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001030	- Phenylketonuria (PKU) [MIM:261600]	SWISS	281	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ala395Gly	VAR_001030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001030	- Phenylketonuria (PKU) [MIM:261600]	SWISS	290	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ala395Gly	VAR_001030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001030	- Phenylketonuria (PKU) [MIM:261600]	SWISS	279	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ala395Gly	VAR_001030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001030	- Phenylketonuria (PKU) [MIM:261600]	SWISS	256	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ala395Gly	VAR_001030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001030	- Phenylketonuria (PKU) [MIM:261600]	SWISS	307	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ala395Pro	VAR_001031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001031	- Phenylketonuria (PKU) [MIM:261600]	SWISS	276	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ala395Pro	VAR_001031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001031	- Phenylketonuria (PKU) [MIM:261600]	SWISS	277	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ala395Pro	VAR_001031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001031	- Phenylketonuria (PKU) [MIM:261600]	SWISS	281	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ala395Pro	VAR_001031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001031	- Phenylketonuria (PKU) [MIM:261600]	SWISS	290	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ala395Pro	VAR_001031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001031	- Phenylketonuria (PKU) [MIM:261600]	SWISS	279	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ala395Pro	VAR_001031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001031	- Phenylketonuria (PKU) [MIM:261600]	SWISS	256	cd03348	4557819,NP_000268
5053	129973	Disease	p.Ala395Pro	VAR_001031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001031	- Phenylketonuria (PKU) [MIM:261600]	SWISS	307	cd00361	4557819,NP_000268
5053	129973	Disease	p.Ala403Val	VAR_001033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001033	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	284	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ala403Val	VAR_001033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001033	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	285	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ala403Val	VAR_001033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001033	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	289	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ala403Val	VAR_001033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001033	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	298	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ala403Val	VAR_001033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001033	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	289	COG3186	4557819,NP_000268
5053	129973	Disease	p.Ala403Val	VAR_001033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001033	- Phenylketonuria (PKU) [MIM:261600]	SWISS	284	cd03345	4557819,NP_000268
5053	129973	Disease	p.Ala403Val	VAR_001033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001033	- Phenylketonuria (PKU) [MIM:261600]	SWISS	285	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Ala403Val	VAR_001033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001033	- Phenylketonuria (PKU) [MIM:261600]	SWISS	289	cd03347	4557819,NP_000268
5053	129973	Disease	p.Ala403Val	VAR_001033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001033	- Phenylketonuria (PKU) [MIM:261600]	SWISS	298	cd03346	4557819,NP_000268
5053	129973	Disease	p.Ala403Val	VAR_001033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001033	- Phenylketonuria (PKU) [MIM:261600]	SWISS	289	COG3186	4557819,NP_000268
5053	129973	Disease	p.Pro407Ser	VAR_011576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011576	- Phenylketonuria (PKU) [MIM:261600]	SWISS	288	cd03345	4557819,NP_000268
5053	129973	Disease	p.Pro407Ser	VAR_011576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011576	- Phenylketonuria (PKU) [MIM:261600]	SWISS	289	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Pro407Ser	VAR_011576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011576	- Phenylketonuria (PKU) [MIM:261600]	SWISS	293	cd03347	4557819,NP_000268
5053	129973	Disease	p.Pro407Ser	VAR_011576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011576	- Phenylketonuria (PKU) [MIM:261600]	SWISS	293	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg408Gln	VAR_001034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001034	- Phenylketonuria (PKU) [MIM:261600]	SWISS	289	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg408Gln	VAR_001034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001034	- Phenylketonuria (PKU) [MIM:261600]	SWISS	290	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg408Gln	VAR_001034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001034	- Phenylketonuria (PKU) [MIM:261600]	SWISS	294	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg408Gln	VAR_001034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001034	- Phenylketonuria (PKU) [MIM:261600]	SWISS	294	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg408Trp	VAR_001035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001035	- Phenylketonuria (PKU) [MIM:261600]	SWISS	289	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg408Trp	VAR_001035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001035	- Phenylketonuria (PKU) [MIM:261600]	SWISS	290	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg408Trp	VAR_001035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001035	- Phenylketonuria (PKU) [MIM:261600]	SWISS	294	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg408Trp	VAR_001035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001035	- Phenylketonuria (PKU) [MIM:261600]	SWISS	294	COG3186	4557819,NP_000268
5053	129973	Disease	p.Phe410Ser	VAR_009249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009249	- Phenylketonuria (PKU) [MIM:261600]	SWISS	291	cd03345	4557819,NP_000268
5053	129973	Disease	p.Phe410Ser	VAR_009249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009249	- Phenylketonuria (PKU) [MIM:261600]	SWISS	292	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Phe410Ser	VAR_009249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009249	- Phenylketonuria (PKU) [MIM:261600]	SWISS	296	cd03347	4557819,NP_000268
5053	129973	Disease	p.Phe410Ser	VAR_009249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009249	- Phenylketonuria (PKU) [MIM:261600]	SWISS	296	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg413Pro	VAR_001036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001036	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	294	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg413Pro	VAR_001036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001036	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	295	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg413Pro	VAR_001036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001036	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	299	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg413Pro	VAR_001036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001036	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	299	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg413Pro	VAR_001036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001036	- Phenylketonuria (PKU) [MIM:261600]	SWISS	294	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg413Pro	VAR_001036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001036	- Phenylketonuria (PKU) [MIM:261600]	SWISS	295	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg413Pro	VAR_001036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001036	- Phenylketonuria (PKU) [MIM:261600]	SWISS	299	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg413Pro	VAR_001036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001036	- Phenylketonuria (PKU) [MIM:261600]	SWISS	299	COG3186	4557819,NP_000268
5053	129973	Disease	p.Arg413Ser	VAR_001037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001037	- Phenylketonuria (PKU) [MIM:261600]	SWISS	294	cd03345	4557819,NP_000268
5053	129973	Disease	p.Arg413Ser	VAR_001037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001037	- Phenylketonuria (PKU) [MIM:261600]	SWISS	295	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Arg413Ser	VAR_001037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001037	- Phenylketonuria (PKU) [MIM:261600]	SWISS	299	cd03347	4557819,NP_000268
5053	129973	Disease	p.Arg413Ser	VAR_001037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001037	- Phenylketonuria (PKU) [MIM:261600]	SWISS	299	COG3186	4557819,NP_000268
5053	129973	Disease	p.Tyr414Cys	VAR_001038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001038	- Phenylketonuria (PKU) [MIM:261600]	SWISS	295	cd03345	4557819,NP_000268
5053	129973	Disease	p.Tyr414Cys	VAR_001038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001038	- Phenylketonuria (PKU) [MIM:261600]	SWISS	296	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Tyr414Cys	VAR_001038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001038	- Phenylketonuria (PKU) [MIM:261600]	SWISS	300	cd03347	4557819,NP_000268
5053	129973	Disease	p.Tyr414Cys	VAR_001038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001038	- Phenylketonuria (PKU) [MIM:261600]	SWISS	301	COG3186	4557819,NP_000268
5053	129973	Disease	p.Asp415Asn	VAR_001039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001039	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	296	cd03345	4557819,NP_000268
5053	129973	Disease	p.Asp415Asn	VAR_001039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001039	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	297	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Asp415Asn	VAR_001039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001039	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	301	cd03347	4557819,NP_000268
5053	129973	Disease	p.Asp415Asn	VAR_001039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001039	- Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]	SWISS	304	COG3186	4557819,NP_000268
5053	129973	Disease	p.Thr418Pro	VAR_001040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001040	- Phenylketonuria (PKU) [MIM:261600]	SWISS	300	pfam00351	4557819,NP_000268
5053	129973	Disease	p.Thr418Pro	VAR_001040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001040	- Phenylketonuria (PKU) [MIM:261600]	SWISS	304	cd03347	4557819,NP_000268
5053	129973	Disease	p.Thr418Pro	VAR_001040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001040	- Phenylketonuria (PKU) [MIM:261600]	SWISS	307	COG3186	4557819,NP_000268
5053	129973	Disease	p.Leu430Pro	VAR_001041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001041	- Phenylketonuria (PKU) [MIM:261600]	SWISS	No Domain	N/A	4557819,NP_000268
5053	129973	Disease	p.Ala447Asp	VAR_001042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001042	- Phenylketonuria (PKU) [MIM:261600]	SWISS	No Domain	N/A	4557819,NP_000268
5063	47117818	Disease	p.Arg67Cys	VAR_023825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023825	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	No Domain	N/A	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	109	cd06645	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	109	cd06646	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	116	cd06624	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	139	cd05056	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	106	cd07870	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	134	cd07866	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	146	cd06608	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	114	cd06637	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	96	cd05585	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	99	cd05586	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	99	cd05579	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	174	cd05572	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	100	cd05633	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	333	cd00180	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	100	cd05611	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	618	cd05123	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	98	cd05607	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	101	cd05606	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	100	cd05608	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	103	cd05577	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	145	cd05621	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd08226	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	98	cd05115	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	145	cd05596	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	129	cd07875	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	107	cd05584	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	111	cd07868	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	111	cd07867	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	101	cd05582	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd05589	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	129	cd07835	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	109	cd05074	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	117	cd06616	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	257	pfam07714	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	183	pfam00069	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	387	smart00219	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd07831	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	112	cd05118	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	143	cd07829	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	129	cd07838	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	155	cd07830	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	457	smart00221	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	152	cd07840	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	114	cd05092	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	111	cd05081	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	105	cd05059	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	110	cd08224	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	106	cd06649	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	112	cd05111	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	109	cd06653	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	112	cd05079	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	109	cd05066	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	109	cd05065	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	106	cd07869	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	105	cd05082	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	110	cd05080	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	106	cd06650	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	121	cd06618	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	122	cd07874	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	107	cd07873	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	101	cd07872	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	108	cd06611	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	106	cd06643	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	132	cd05100	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	107	cd07844	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	113	cd07849	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	103	cd05112	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	103	cd05114	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd06641	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd06642	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd06640	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	130	cd05048	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	129	cd07854	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	112	cd07858	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	110	cd05064	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	153	cd05053	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	133	cd06652	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	109	cd08530	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	106	cd05044	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	124	cd06636	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	106	cd07836	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	105	cd07861	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd05616	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	109	cd05587	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	164	cd05057	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	112	cd05109	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	112	cd07857	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	118	cd07832	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	106	cd06630	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	120	cd07841	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	108	cd05583	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	136	cd05122	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	122	cd05045	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	114	cd07863	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	105	cd08221	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	111	cd06628	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	109	cd08529	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	113	cd06629	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	183	cd06606	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	203	cd07842	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	110	cd08222	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	102	cd07839	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd08225	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	141	cd08215	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	103	cd08219	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd05578	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	110	cd06627	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	105	cd06626	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	108	cd08217	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	113	cd08220	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	107	cd06631	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	105	cd08223	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	103	cd07860	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd08218	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	106	cd07859	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	107	cd07853	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	108	cd05614	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	108	cd05613	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	125	cd08528	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	122	cd05089	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	105	cd05605	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	112	cd05108	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd05615	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	109	cd06651	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	105	cd05632	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	105	cd05631	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	105	cd05630	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	111	cd06620	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	146	cd07834	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	99	cd05619	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	99	cd05603	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	98	cd05595	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	98	cd05593	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	108	cd05058	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	310	cd00192	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	100	cd05078	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	99	cd05618	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	99	cd05604	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	98	cd05594	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	99	cd05602	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	99	cd05590	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	99	cd05575	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	99	cd05588	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	94	cd05085	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	98	cd05116	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	122	cd06632	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	97	cd05084	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	106	cd05042	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	105	cd05060	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	99	cd05041	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	99	cd05617	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	99	cd05591	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	101	cd05570	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd05040	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	115	cd05047	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	98	cd05620	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	98	cd05571	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	99	cd05592	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	118	cd06656	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	118	cd06655	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	119	cd06648	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	153	cd06614	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	118	cd06634	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	118	cd06647	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	118	cd06607	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	127	cd06638	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	137	cd07851	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	121	cd07878	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	113	cd06644	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	131	cd07879	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	119	cd06657	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	119	cd06654	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	150	cd05055	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	140	cd05101	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	113	cd07862	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	105	cd05600	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	473	COG0515	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	105	cd05601	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	112	cd07852	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	105	cd05624	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	105	cd05597	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	103	cd05626	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd05629	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	159	cd05573	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd05598	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	107	cd06617	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	123	cd05093	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	106	cd08216	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	126	cd06609	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	159	cd05580	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	111	cd05063	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	121	cd07837	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	106	cd08229	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	109	cd06625	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	121	cd07843	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	121	cd07864	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	108	cd07871	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	219	cd05581	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	115	cd06610	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	121	cd07833	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd07846	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	103	cd07847	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	132	cd07848	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd05627	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	105	cd05623	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	119	cd06619	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	103	cd05612	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd05628	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	129	cd05574	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	109	cd08228	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd06615	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	107	cd06621	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	113	cd06917	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	120	cd06605	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	103	cd05083	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	103	cd05609	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	117	cd06622	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	20	smart00750	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	124	cd07845	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	111	cd07856	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	131	cd07855	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	124	cd06633	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	143	cd05098	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	120	cd06659	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	128	cd06635	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	106	cd06613	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd05113	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	102	cd05067	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	105	cd05148	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	116	cd05061	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	109_G	cd05039	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	121	cd05036	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	118	cd06612	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	110	cd05050	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	130	cd05049	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	105	cd05070	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd05052	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	127	cd05090	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	136	cd05033	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	105	cd05069	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	131	cd05038	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	127	cd05088	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	103	cd05073	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	108	cd05068	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	154	cd05032	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	126	cd05097	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	103	cd05072	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	115	cd05062	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	100	cd05034	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	105	cd05071	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	144	cd05095	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	126	cd07876	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	138	cd06639	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	123	cd07877	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	121	cd06658	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	104	cd08227	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	119	cd05035	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	138	cd06623	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	113	cd05599	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	103	cd05625	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	371	smart00220	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	112	cd05110	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	132	cd05099	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	127	cd07865	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	123	cd07850	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	121	cd07880	189491759,NP_001121645
5063	47117818	Disease	p.Ala380Glu	VAR_023826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023826	- Mental retardation X-linked type 30 (MRX30) [MIM:300558]	SWISS	145	cd05622	189491759,NP_001121645
80025	118572682	Disease	p.Glu134Gly	VAR_060934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060934	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	No Domain	N/A	85838513,NP_705902
80025	118572682	Disease	p.Gly219Val	VAR_015154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015154	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	8	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Thr234Ala	VAR_015155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015155	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	23	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Arg249Pro	VAR_060935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060935	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	38	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Arg249Pro	VAR_060935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060935	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	16	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Arg264Trp	VAR_015156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015156	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	53	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Arg264Trp	VAR_015156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015156	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	37	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Arg278Cys	VAR_015157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015157	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	67	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Arg278Cys	VAR_015157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015157	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	63_G	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Arg278Leu	VAR_060936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060936	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	67	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Arg278Leu	VAR_060936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060936	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	63_G	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Leu282Val	VAR_015158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015158	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	71	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Leu282Val	VAR_015158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015158	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	66	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Arg286Cys	VAR_015159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015159	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	75	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Arg286Cys	VAR_015159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015159	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	70	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Glu322Asp	VAR_060937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060937	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	124	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Glu322Asp	VAR_060937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060937	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	112	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Glu322Gly	VAR_060938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060938	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	124	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Glu322Gly	VAR_060938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060938	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	112	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Thr327Ile	VAR_015160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015160	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	129	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Thr327Ile	VAR_015160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015160	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	117	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Ser351Pro	VAR_015161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015161	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	155	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Ser351Pro	VAR_015161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015161	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	143	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Asn355Ser	VAR_015162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015162	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	159	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Asn355Ser	VAR_015162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015162	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	144	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Arg357Gln	VAR_060939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060939	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	161	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Arg357Gln	VAR_060939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060939	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	146	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Ala398Thr	VAR_060940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060940	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	206	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Ala398Thr	VAR_060940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060940	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	189	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Asn404Ile	VAR_015163	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015163	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	212	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Asn404Ile	VAR_015163	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015163	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	195	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Leu413Pro	VAR_015164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015164	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	221	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Leu413Pro	VAR_015164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015164	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	204	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Cys428Tyr	VAR_060942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060942	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	236	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Cys428Tyr	VAR_060942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060942	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	219	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Asp447Asn	VAR_060943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060943	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	255	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Asp447Asn	VAR_060943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060943	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	238	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Ser471Asn	VAR_015165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015165	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	281	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Ser471Asn	VAR_015165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015165	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	264	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Ile497Thr	VAR_015166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015166	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	332	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Ile497Thr	VAR_015166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015166	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	314	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Asn500Ile	VAR_015167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015167	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	335	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Asn500Ile	VAR_015167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015167	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	317	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Ile501Thr	VAR_060944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060944	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	336	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Ile501Thr	VAR_060944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060944	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	318	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Ala509Val	VAR_060945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060945	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	344	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Ala509Val	VAR_060945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060945	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	326	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Asn511Asp	VAR_060946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060946	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	346	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Asn511Asp	VAR_060946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060946	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	328	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Gly521Arg	VAR_015168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015168	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	356	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Gly521Arg	VAR_015168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015168	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	338	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Thr528Met	VAR_015169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015169	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	363	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Thr528Met	VAR_015169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015169	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	346	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Arg532Trp	VAR_060947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060947	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	367	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Arg532Trp	VAR_060947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060947	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	350	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Leu563Pro	VAR_060948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060948	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	398	pfam03630	85838513,NP_705902
80025	118572682	Disease	p.Leu563Pro	VAR_060948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060948	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	381	COG5146	85838513,NP_705902
80025	118572682	Disease	p.Pro570Leu	VAR_060949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060949	- Neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]	SWISS	No Domain	N/A	85838513,NP_705902
9060	20178315	Disease	p.Thr48Arg	VAR_063049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063049	- Spondyloepimetaphyseal dysplasia Pakistani type (SEMD-PA) [MIM:612847]	SWISS	30	COG0529	34447231,NP_004661
9060	20178315	Disease	p.Thr48Arg	VAR_063049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063049	- Spondyloepimetaphyseal dysplasia Pakistani type (SEMD-PA) [MIM:612847]	SWISS	8	pfam01583	34447231,NP_004661
9060	20178315	Disease	p.Thr48Arg	VAR_063049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063049	- Spondyloepimetaphyseal dysplasia Pakistani type (SEMD-PA) [MIM:612847]	SWISS	5	cd02027	34447231,NP_004661
9060	20178315	Disease	p.Thr48Arg	VAR_063049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063049	- Spondyloepimetaphyseal dysplasia Pakistani type (SEMD-PA) [MIM:612847]	SWISS	5	cd02019	34447231,NP_004661
5071	116242725	Disease	p.Val15Met	VAR_019733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019733	- Parkinson disease (PARK) [MIM:168600]	SWISS	18	pfam00240	169790969,NP_004553
5071	116242725	Disease	p.Val15Met	VAR_019733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019733	- Parkinson disease (PARK) [MIM:168600]	SWISS	17	cd01769	169790969,NP_004553
5071	116242725	Disease	p.Val15Met	VAR_019733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019733	- Parkinson disease (PARK) [MIM:168600]	SWISS	27	cd00196	169790969,NP_004553
5071	116242725	Disease	p.Val15Met	VAR_019733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019733	- Parkinson disease (PARK) [MIM:168600]	SWISS	15	cd01805	169790969,NP_004553
5071	116242725	Disease	p.Val15Met	VAR_019733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019733	- Parkinson disease (PARK) [MIM:168600]	SWISS	15	cd01803	169790969,NP_004553
5071	116242725	Disease	p.Val15Met	VAR_019733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019733	- Parkinson disease (PARK) [MIM:168600]	SWISS	15	cd01806	169790969,NP_004553
5071	116242725	Disease	p.Val15Met	VAR_019733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019733	- Parkinson disease (PARK) [MIM:168600]	SWISS	18	pfam11976	169790969,NP_004553
5071	116242725	Disease	p.Val15Met	VAR_019733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019733	- Parkinson disease (PARK) [MIM:168600]	SWISS	17	cd01809	169790969,NP_004553
5071	116242725	Disease	p.Val15Met	VAR_019733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019733	- Parkinson disease (PARK) [MIM:168600]	SWISS	15	cd01812	169790969,NP_004553
5071	116242725	Disease	p.Val15Met	VAR_019733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019733	- Parkinson disease (PARK) [MIM:168600]	SWISS	14	cd01808	169790969,NP_004553
5071	116242725	Disease	p.Val15Met	VAR_019733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019733	- Parkinson disease (PARK) [MIM:168600]	SWISS	22	smart00213	169790969,NP_004553
5071	116242725	Disease	p.Val15Met	VAR_019733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019733	- Parkinson disease (PARK) [MIM:168600]	SWISS	13	cd01798	169790969,NP_004553
5071	116242725	Disease	p.Arg33Gln	VAR_019734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019734	- Parkinson disease (PARK) [MIM:168600]	SWISS	36	pfam00240	169790969,NP_004553
5071	116242725	Disease	p.Arg33Gln	VAR_019734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019734	- Parkinson disease (PARK) [MIM:168600]	SWISS	42	cd01769	169790969,NP_004553
5071	116242725	Disease	p.Arg33Gln	VAR_019734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019734	- Parkinson disease (PARK) [MIM:168600]	SWISS	52	cd00196	169790969,NP_004553
5071	116242725	Disease	p.Arg33Gln	VAR_019734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019734	- Parkinson disease (PARK) [MIM:168600]	SWISS	34	cd01805	169790969,NP_004553
5071	116242725	Disease	p.Arg33Gln	VAR_019734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019734	- Parkinson disease (PARK) [MIM:168600]	SWISS	33	cd01803	169790969,NP_004553
5071	116242725	Disease	p.Arg33Gln	VAR_019734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019734	- Parkinson disease (PARK) [MIM:168600]	SWISS	33	cd01806	169790969,NP_004553
5071	116242725	Disease	p.Arg33Gln	VAR_019734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019734	- Parkinson disease (PARK) [MIM:168600]	SWISS	37	pfam11976	169790969,NP_004553
5071	116242725	Disease	p.Arg33Gln	VAR_019734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019734	- Parkinson disease (PARK) [MIM:168600]	SWISS	35	cd01809	169790969,NP_004553
5071	116242725	Disease	p.Arg33Gln	VAR_019734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019734	- Parkinson disease (PARK) [MIM:168600]	SWISS	38	cd01812	169790969,NP_004553
5071	116242725	Disease	p.Arg33Gln	VAR_019734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019734	- Parkinson disease (PARK) [MIM:168600]	SWISS	32	cd01808	169790969,NP_004553
5071	116242725	Disease	p.Arg33Gln	VAR_019734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019734	- Parkinson disease (PARK) [MIM:168600]	SWISS	47	smart00213	169790969,NP_004553
5071	116242725	Disease	p.Arg33Gln	VAR_019734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019734	- Parkinson disease (PARK) [MIM:168600]	SWISS	31	cd01798	169790969,NP_004553
5071	116242725	Disease	p.Pro37Leu	VAR_019735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019735	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	43	pfam00240	169790969,NP_004553
5071	116242725	Disease	p.Pro37Leu	VAR_019735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019735	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	53	cd01769	169790969,NP_004553
5071	116242725	Disease	p.Pro37Leu	VAR_019735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019735	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	73	cd00196	169790969,NP_004553
5071	116242725	Disease	p.Pro37Leu	VAR_019735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019735	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	41	cd01805	169790969,NP_004553
5071	116242725	Disease	p.Pro37Leu	VAR_019735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019735	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	37	cd01803	169790969,NP_004553
5071	116242725	Disease	p.Pro37Leu	VAR_019735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019735	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	37	cd01806	169790969,NP_004553
5071	116242725	Disease	p.Pro37Leu	VAR_019735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019735	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	41	pfam11976	169790969,NP_004553
5071	116242725	Disease	p.Pro37Leu	VAR_019735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019735	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	41	cd01809	169790969,NP_004553
5071	116242725	Disease	p.Pro37Leu	VAR_019735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019735	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	42	cd01812	169790969,NP_004553
5071	116242725	Disease	p.Pro37Leu	VAR_019735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019735	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	37	cd01808	169790969,NP_004553
5071	116242725	Disease	p.Pro37Leu	VAR_019735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019735	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	54	smart00213	169790969,NP_004553
5071	116242725	Disease	p.Pro37Leu	VAR_019735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019735	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	35	cd01798	169790969,NP_004553
5071	116242725	Disease	p.Arg42Pro	VAR_019736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019736	- Parkinson disease (PARK) [MIM:168600]	SWISS	48	pfam00240	169790969,NP_004553
5071	116242725	Disease	p.Arg42Pro	VAR_019736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019736	- Parkinson disease (PARK) [MIM:168600]	SWISS	58	cd01769	169790969,NP_004553
5071	116242725	Disease	p.Arg42Pro	VAR_019736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019736	- Parkinson disease (PARK) [MIM:168600]	SWISS	78	cd00196	169790969,NP_004553
5071	116242725	Disease	p.Arg42Pro	VAR_019736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019736	- Parkinson disease (PARK) [MIM:168600]	SWISS	46	cd01805	169790969,NP_004553
5071	116242725	Disease	p.Arg42Pro	VAR_019736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019736	- Parkinson disease (PARK) [MIM:168600]	SWISS	42	cd01803	169790969,NP_004553
5071	116242725	Disease	p.Arg42Pro	VAR_019736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019736	- Parkinson disease (PARK) [MIM:168600]	SWISS	42	cd01806	169790969,NP_004553
5071	116242725	Disease	p.Arg42Pro	VAR_019736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019736	- Parkinson disease (PARK) [MIM:168600]	SWISS	51	pfam11976	169790969,NP_004553
5071	116242725	Disease	p.Arg42Pro	VAR_019736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019736	- Parkinson disease (PARK) [MIM:168600]	SWISS	46	cd01809	169790969,NP_004553
5071	116242725	Disease	p.Arg42Pro	VAR_019736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019736	- Parkinson disease (PARK) [MIM:168600]	SWISS	47	cd01812	169790969,NP_004553
5071	116242725	Disease	p.Arg42Pro	VAR_019736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019736	- Parkinson disease (PARK) [MIM:168600]	SWISS	42	cd01808	169790969,NP_004553
5071	116242725	Disease	p.Arg42Pro	VAR_019736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019736	- Parkinson disease (PARK) [MIM:168600]	SWISS	61	smart00213	169790969,NP_004553
5071	116242725	Disease	p.Arg42Pro	VAR_019736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019736	- Parkinson disease (PARK) [MIM:168600]	SWISS	40	cd01798	169790969,NP_004553
5071	116242725	Disease	p.Ala46Pro	VAR_019737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019737	- Parkinson disease (PARK) [MIM:168600]	SWISS	52	pfam00240	169790969,NP_004553
5071	116242725	Disease	p.Ala46Pro	VAR_019737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019737	- Parkinson disease (PARK) [MIM:168600]	SWISS	67	cd01769	169790969,NP_004553
5071	116242725	Disease	p.Ala46Pro	VAR_019737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019737	- Parkinson disease (PARK) [MIM:168600]	SWISS	87	cd00196	169790969,NP_004553
5071	116242725	Disease	p.Ala46Pro	VAR_019737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019737	- Parkinson disease (PARK) [MIM:168600]	SWISS	50	cd01805	169790969,NP_004553
5071	116242725	Disease	p.Ala46Pro	VAR_019737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019737	- Parkinson disease (PARK) [MIM:168600]	SWISS	46	cd01803	169790969,NP_004553
5071	116242725	Disease	p.Ala46Pro	VAR_019737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019737	- Parkinson disease (PARK) [MIM:168600]	SWISS	46	cd01806	169790969,NP_004553
5071	116242725	Disease	p.Ala46Pro	VAR_019737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019737	- Parkinson disease (PARK) [MIM:168600]	SWISS	55	pfam11976	169790969,NP_004553
5071	116242725	Disease	p.Ala46Pro	VAR_019737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019737	- Parkinson disease (PARK) [MIM:168600]	SWISS	50	cd01809	169790969,NP_004553
5071	116242725	Disease	p.Ala46Pro	VAR_019737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019737	- Parkinson disease (PARK) [MIM:168600]	SWISS	51	cd01812	169790969,NP_004553
5071	116242725	Disease	p.Ala46Pro	VAR_019737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019737	- Parkinson disease (PARK) [MIM:168600]	SWISS	46	cd01808	169790969,NP_004553
5071	116242725	Disease	p.Ala46Pro	VAR_019737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019737	- Parkinson disease (PARK) [MIM:168600]	SWISS	65	smart00213	169790969,NP_004553
5071	116242725	Disease	p.Ala46Pro	VAR_019737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019737	- Parkinson disease (PARK) [MIM:168600]	SWISS	44	cd01798	169790969,NP_004553
5071	116242725	Disease	p.Ala82Glu	VAR_019738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019738	rs55774500 Parkinson disease (PARK) [MIM:168600]	SWISS	No Domain	N/A	169790969,NP_004553
5071	116242725	Disease	p.Ala82Glu	VAR_019738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019738	rs55774500 Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	No Domain	N/A	169790969,NP_004553
5071	116242725	Disease	p.Ala92Val	VAR_019739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019739	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	No Domain	N/A	169790969,NP_004553
5071	116242725	Disease	p.Lys161Asn	VAR_019741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019741	- Parkinson disease (PARK) [MIM:168600]	SWISS	No Domain	N/A	169790969,NP_004553
5071	116242725	Disease	p.Lys161Asn	VAR_019741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019741	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	No Domain	N/A	169790969,NP_004553
5071	116242725	Disease	p.Met192Val	VAR_019743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019743	rs9456735 Parkinson disease (PARK) [MIM:168600]	SWISS	No Domain	N/A	169790969,NP_004553
5071	116242725	Disease	p.Lys211Asn	VAR_019744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019744	- Parkinson disease (PARK) [MIM:168600]	SWISS	No Domain	N/A	169790969,NP_004553
5071	116242725	Disease	p.Lys211Arg	VAR_019745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019745	- Parkinson disease (PARK) [MIM:168600]	SWISS	No Domain	N/A	169790969,NP_004553
5071	116242725	Disease	p.Cys212Tyr	VAR_019746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019746	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	No Domain	N/A	169790969,NP_004553
5071	116242725	Disease	p.Thr240Met	VAR_019747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019747	- Parkinson disease (PARK) [MIM:168600]	SWISS	No Domain	N/A	169790969,NP_004553
5071	116242725	Disease	p.Thr240Arg	VAR_019748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019748	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	No Domain	N/A	169790969,NP_004553
5071	116242725	Disease	p.Cys253Tyr	VAR_019749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019749	- Parkinson disease (PARK) [MIM:168600]	SWISS	No Domain	N/A	169790969,NP_004553
5071	116242725	Disease	p.Arg256Cys	VAR_019750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019750	rs34424986 Parkinson disease (PARK) [MIM:168600]	SWISS	No Domain	N/A	169790969,NP_004553
5071	116242725	Disease	p.Arg256Cys	VAR_019750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019750	rs34424986 Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	No Domain	N/A	169790969,NP_004553
5071	116242725	Disease	p.Arg275Trp	VAR_019752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019752	rs34424986 Parkinson disease (PARK) [MIM:168600]	SWISS	No Domain	N/A	169790969,NP_004553
5071	116242725	Disease	p.Arg275Trp	VAR_019752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019752	rs34424986 Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	No Domain	N/A	169790969,NP_004553
5071	116242725	Disease	p.Asp280Asn	VAR_019753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019753	- Parkinson disease (PARK) [MIM:168600]	SWISS	No Domain	N/A	169790969,NP_004553
5071	116242725	Disease	p.Gly284Arg	VAR_019754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019754	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	No Domain	N/A	169790969,NP_004553
5071	116242725	Disease	p.Cys289Gly	VAR_019755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019755	rs55961220 Parkinson disease (PARK) [MIM:168600]	SWISS	No Domain	N/A	169790969,NP_004553
5071	116242725	Disease	p.Gly328Glu	VAR_019756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019756	- Parkinson disease (PARK) [MIM:168600]	SWISS	43	pfam01485	169790969,NP_004553
5071	116242725	Disease	p.Gly328Glu	VAR_019756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019756	- Parkinson disease (PARK) [MIM:168600]	SWISS	20	smart00647	169790969,NP_004553
5071	116242725	Disease	p.Arg334Cys	VAR_019757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019757	- Parkinson disease (PARK) [MIM:168600]	SWISS	49	pfam01485	169790969,NP_004553
5071	116242725	Disease	p.Arg334Cys	VAR_019757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019757	- Parkinson disease (PARK) [MIM:168600]	SWISS	27	smart00647	169790969,NP_004553
5071	116242725	Disease	p.Thr351Pro	VAR_019759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019759	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	118	pfam01485	169790969,NP_004553
5071	116242725	Disease	p.Thr351Pro	VAR_019759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019759	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	141	smart00647	169790969,NP_004553
5071	116242725	Disease	p.Thr415Asn	VAR_019763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019763	- Parkinson disease (PARK) [MIM:168600]	SWISS	33	pfam01485	169790969,NP_004553
5071	116242725	Disease	p.Thr415Asn	VAR_019763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019763	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	33	pfam01485	169790969,NP_004553
5071	116242725	Disease	p.Gly430Asp	VAR_019764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019764	- Parkinson disease (PARK) [MIM:168600]	SWISS	62	pfam01485	169790969,NP_004553
5071	116242725	Disease	p.Cys431Phe	VAR_019765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019765	- Parkinson disease type 2 (PARK2) [MIM:600116]	SWISS	63	pfam01485	169790969,NP_004553
5071	116242725	Disease	p.Pro437Leu	VAR_019766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019766	- Parkinson disease (PARK) [MIM:168600]	SWISS	120	pfam01485	169790969,NP_004553
5071	116242725	Disease	p.Cys441Arg	VAR_019767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019767	- Parkinson disease (PARK) [MIM:168600]	SWISS	127	pfam01485	169790969,NP_004553
11315	56404943	Disease	p.Met26Ile	VAR_020492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020492	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	64	cd03128	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	VAR_020492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020492	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	57	cd03141	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	VAR_020492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020492	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	23	cd03135	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	VAR_020492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020492	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	25	cd03137	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	VAR_020492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020492	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	64	cd01653	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	VAR_020492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020492	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	29	cd03139	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	VAR_020492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020492	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	25	cd03140	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	VAR_020492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020492	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	21	cd03136	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	VAR_020492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020492	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	35	cd03148	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	VAR_020492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020492	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	44	COG0693	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	VAR_020492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020492	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	22	cd03169	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Met26Ile	VAR_020492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020492	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	23	cd03134	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	VAR_020493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020493	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	200	cd03128	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	VAR_020493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020493	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	171	cd03141	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	VAR_020493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020493	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	92	cd03135	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	VAR_020493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020493	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	94	cd03137	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	VAR_020493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020493	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	200	cd01653	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	VAR_020493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020493	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	110_G	cd03139	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	VAR_020493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020493	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	77	cd03140	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	VAR_020493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020493	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	49	pfam01965	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	VAR_020493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020493	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	86_G	cd03136	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	VAR_020493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020493	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	91	cd03148	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	VAR_020493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020493	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	144	COG0693	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	VAR_020493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020493	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	81	cd03169	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Glu64Asp	VAR_020493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020493	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	70	cd03134	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala104Thr	VAR_020495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020495	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	313	cd03128	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala104Thr	VAR_020495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020495	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	218	cd03141	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala104Thr	VAR_020495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020495	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	143	cd03135	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala104Thr	VAR_020495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020495	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	148	cd03137	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala104Thr	VAR_020495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020495	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	313	cd01653	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala104Thr	VAR_020495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020495	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	169	cd03139	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala104Thr	VAR_020495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020495	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	117	cd03140	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala104Thr	VAR_020495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020495	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	107	pfam01965	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala104Thr	VAR_020495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020495	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	142	cd03136	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala104Thr	VAR_020495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020495	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	134	cd03148	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala104Thr	VAR_020495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020495	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	194	COG0693	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala104Thr	VAR_020495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020495	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	127	cd03169	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Ala104Thr	VAR_020495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020495	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	114	cd03134	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	VAR_020496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020496	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	345	cd03141	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	VAR_020496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020496	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	211	cd03135	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	VAR_020496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020496	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	197	cd03137	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	VAR_020496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020496	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	490	cd01653	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	VAR_020496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020496	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	234	cd03139	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	VAR_020496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020496	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	166	cd03140	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	VAR_020496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020496	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	185	pfam01965	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	VAR_020496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020496	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	193	cd03136	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	VAR_020496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020496	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	211	cd03148	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	VAR_020496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020496	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	295	COG0693	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	VAR_020496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020496	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	183	cd03169	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Asp149Ala	VAR_020496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020496	- Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	159	cd03134	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	VAR_020498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020498	rs28938172 Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	362	cd03141	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	VAR_020498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020498	rs28938172 Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	233	cd03135	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	VAR_020498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020498	rs28938172 Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	221	cd03137	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	VAR_020498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020498	rs28938172 Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	507	cd01653	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	VAR_020498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020498	rs28938172 Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	260	cd03139	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	VAR_020498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020498	rs28938172 Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	182	cd03140	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	VAR_020498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020498	rs28938172 Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	214	pfam01965	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	VAR_020498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020498	rs28938172 Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	216	cd03136	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	VAR_020498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020498	rs28938172 Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	229	cd03148	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	VAR_020498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020498	rs28938172 Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	327	COG0693	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	VAR_020498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020498	rs28938172 Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	205	cd03169	31543380,NP_009193|183227678,NP_001116849
11315	56404943	Disease	p.Leu166Pro	VAR_020498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020498	rs28938172 Parkinson disease type 7 (PARK7) [MIM:606324]	SWISS	180	cd03134	31543380,NP_009193|183227678,NP_001116849
5076	223590261	Disease	p.Gly76Ser	VAR_003789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003789	- Renal-coloboma syndrome (RCS) [MIM:120330]	SWISS	61	pfam00292	NULL
5076	223590261	Disease	p.Gly76Ser	VAR_003789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003789	- Renal-coloboma syndrome (RCS) [MIM:120330]	SWISS	61	smart00351	NULL
5076	223590261	Disease	p.Gly76Ser	VAR_003789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003789	- Renal-coloboma syndrome (RCS) [MIM:120330]	SWISS	61	cd00131	NULL
5077	1172022	Disease	p.Phe45Leu	VAR_003790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003790	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	12	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Phe45Leu	VAR_003790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003790	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	12	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Phe45Leu	VAR_003790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003790	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	12	cd00131	31563340,NP_852122
5077	1172022	Disease	p.Asn47His	VAR_003791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003791	- Waardenburg syndrome type 3 (WS3) [MIM:148820]	SWISS	14	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Asn47His	VAR_003791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003791	- Waardenburg syndrome type 3 (WS3) [MIM:148820]	SWISS	14	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Asn47His	VAR_003791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003791	- Waardenburg syndrome type 3 (WS3) [MIM:148820]	SWISS	14	cd00131	31563340,NP_852122
5077	1172022	Disease	p.Asn47Lys	VAR_003792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003792	- Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]	SWISS	14	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Asn47Lys	VAR_003792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003792	- Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]	SWISS	14	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Asn47Lys	VAR_003792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003792	- Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]	SWISS	14	cd00131	31563340,NP_852122
5077	1172022	Disease	p.Gly48Arg	VAR_017533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017533	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	15	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Gly48Arg	VAR_017533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017533	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	15	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Gly48Arg	VAR_017533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017533	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	15	cd00131	31563340,NP_852122
5077	1172022	Disease	p.Pro50Leu	VAR_003793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003793	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	17	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Pro50Leu	VAR_003793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003793	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	17	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Pro50Leu	VAR_003793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003793	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	17	cd00131	31563340,NP_852122
5077	1172022	Disease	p.Arg56Leu	VAR_003794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003794	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	23	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Arg56Leu	VAR_003794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003794	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	23	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Arg56Leu	VAR_003794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003794	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	23	cd00131	31563340,NP_852122
5077	1172022	Disease	p.Ile59Phe	VAR_003795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003795	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	26	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Ile59Phe	VAR_003795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003795	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	26	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Ile59Phe	VAR_003795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003795	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	26	cd00131	31563340,NP_852122
5077	1172022	Disease	p.Ile59Asn	VAR_003796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003796	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	26	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Ile59Asn	VAR_003796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003796	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	26	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Ile59Asn	VAR_003796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003796	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	26	cd00131	31563340,NP_852122
5077	1172022	Disease	p.Val60Met	VAR_003797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003797	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	27	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Val60Met	VAR_003797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003797	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	27	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Val60Met	VAR_003797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003797	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	27	cd00131	31563340,NP_852122
5077	1172022	Disease	p.Met62Val	VAR_003798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003798	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	29	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Met62Val	VAR_003798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003798	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	29	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Met62Val	VAR_003798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003798	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	29	cd00131	31563340,NP_852122
5077	1172022	Disease	p.Ser73Leu	VAR_013640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013640	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	40	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Ser73Leu	VAR_013640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013640	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	40	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Ser73Leu	VAR_013640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013640	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	40	cd00131	31563340,NP_852122
5077	1172022	Disease	p.Val78Met	VAR_017534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017534	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	45	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Val78Met	VAR_017534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017534	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	45	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Val78Met	VAR_017534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017534	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	45	cd00131	31563340,NP_852122
5077	1172022	Disease	p.Gly81Ala	VAR_003800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003800	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	48	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Gly81Ala	VAR_003800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003800	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	48	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Gly81Ala	VAR_003800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003800	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	48	cd00131	31563340,NP_852122
5077	1172022	Disease	p.Ser84Phe	VAR_003801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003801	- Waardenburg syndrome type 3 (WS3) [MIM:148820]	SWISS	51	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Ser84Phe	VAR_003801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003801	- Waardenburg syndrome type 3 (WS3) [MIM:148820]	SWISS	51	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Ser84Phe	VAR_003801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003801	- Waardenburg syndrome type 3 (WS3) [MIM:148820]	SWISS	51	cd00131	31563340,NP_852122
5077	1172022	Disease	p.Lys85Glu	VAR_003802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003802	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	52	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Lys85Glu	VAR_003802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003802	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	52	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Lys85Glu	VAR_003802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003802	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	52	cd00131	31563340,NP_852122
5077	1172022	Disease	p.Tyr90His	VAR_017535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017535	rs28939096 Waardenburg syndrome type 3 (WS3) [MIM:148820]	SWISS	57	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Tyr90His	VAR_017535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017535	rs28939096 Waardenburg syndrome type 3 (WS3) [MIM:148820]	SWISS	57	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Tyr90His	VAR_017535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017535	rs28939096 Waardenburg syndrome type 3 (WS3) [MIM:148820]	SWISS	57	cd00131	31563340,NP_852122
5077	1172022	Disease	p.Gly99Asp	VAR_003803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003803	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	66	smart00351	31563340,NP_852122
5077	1172022	Disease	p.Gly99Asp	VAR_003803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003803	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	66	pfam00292	31563340,NP_852122
5077	1172022	Disease	p.Gly99Asp	VAR_003803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003803	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	66	cd00131	31563340,NP_852122
5077	1172022	Disease	p.Phe238Ser	VAR_003804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003804	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	70	COG5576	31563340,NP_852122
5077	1172022	Disease	p.Phe238Ser	VAR_003804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003804	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	19	pfam00046	31563340,NP_852122
5077	1172022	Disease	p.Phe238Ser	VAR_003804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003804	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	19	cd00086	31563340,NP_852122
5077	1172022	Disease	p.Phe238Ser	VAR_003804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003804	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	24	smart00389	31563340,NP_852122
5077	1172022	Disease	p.Val265Phe	VAR_003805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003805	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	99	COG5576	31563340,NP_852122
5077	1172022	Disease	p.Val265Phe	VAR_003805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003805	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	56	pfam00046	31563340,NP_852122
5077	1172022	Disease	p.Val265Phe	VAR_003805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003805	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	78	cd00086	31563340,NP_852122
5077	1172022	Disease	p.Val265Phe	VAR_003805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003805	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	86	smart00389	31563340,NP_852122
5077	1172022	Disease	p.Trp266Cys	VAR_017536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017536	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	100	COG5576	31563340,NP_852122
5077	1172022	Disease	p.Trp266Cys	VAR_017536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017536	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	57	pfam00046	31563340,NP_852122
5077	1172022	Disease	p.Trp266Cys	VAR_017536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017536	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	79	cd00086	31563340,NP_852122
5077	1172022	Disease	p.Trp266Cys	VAR_017536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017536	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	87	smart00389	31563340,NP_852122
5077	1172022	Disease	p.Arg270Cys	VAR_013619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013619	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	104	COG5576	31563340,NP_852122
5077	1172022	Disease	p.Arg270Cys	VAR_013619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013619	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	61	pfam00046	31563340,NP_852122
5077	1172022	Disease	p.Arg270Cys	VAR_013619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013619	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	83	cd00086	31563340,NP_852122
5077	1172022	Disease	p.Arg270Cys	VAR_013619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013619	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	91	smart00389	31563340,NP_852122
5077	1172022	Disease	p.Arg270Cys	VAR_013619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013619	- Waardenburg syndrome type 3 (WS3) [MIM:148820]	SWISS	104	COG5576	31563340,NP_852122
5077	1172022	Disease	p.Arg270Cys	VAR_013619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013619	- Waardenburg syndrome type 3 (WS3) [MIM:148820]	SWISS	61	pfam00046	31563340,NP_852122
5077	1172022	Disease	p.Arg270Cys	VAR_013619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013619	- Waardenburg syndrome type 3 (WS3) [MIM:148820]	SWISS	83	cd00086	31563340,NP_852122
5077	1172022	Disease	p.Arg270Cys	VAR_013619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013619	- Waardenburg syndrome type 3 (WS3) [MIM:148820]	SWISS	91	smart00389	31563340,NP_852122
5077	1172022	Disease	p.Arg271Cys	VAR_017537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017537	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	105	COG5576	31563340,NP_852122
5077	1172022	Disease	p.Arg271Cys	VAR_017537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017537	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	62	pfam00046	31563340,NP_852122
5077	1172022	Disease	p.Arg271Cys	VAR_017537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017537	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	84	cd00086	31563340,NP_852122
5077	1172022	Disease	p.Arg271Cys	VAR_017537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017537	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	92	smart00389	31563340,NP_852122
5077	1172022	Disease	p.Arg271Gly	VAR_003806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003806	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	105	COG5576	31563340,NP_852122
5077	1172022	Disease	p.Arg271Gly	VAR_003806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003806	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	62	pfam00046	31563340,NP_852122
5077	1172022	Disease	p.Arg271Gly	VAR_003806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003806	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	84	cd00086	31563340,NP_852122
5077	1172022	Disease	p.Arg271Gly	VAR_003806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003806	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	92	smart00389	31563340,NP_852122
5077	1172022	Disease	p.Arg271His	VAR_017538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017538	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	105	COG5576	31563340,NP_852122
5077	1172022	Disease	p.Arg271His	VAR_017538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017538	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	62	pfam00046	31563340,NP_852122
5077	1172022	Disease	p.Arg271His	VAR_017538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017538	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	84	cd00086	31563340,NP_852122
5077	1172022	Disease	p.Arg271His	VAR_017538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017538	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	92	smart00389	31563340,NP_852122
5077	1172022	Disease	p.Gln391His	VAR_013641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013641	- Waardenburg syndrome type 1 (WS1) [MIM:193500]	SWISS	No Domain	N/A	31563340,NP_852122
5078	3914276	Disease	p.Arg172Trp	VAR_054883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054883	- Maturity-onset diabetes of the young type 9 (MODY9) [MIM:612225]	SWISS	53	COG5576	NULL
5078	3914276	Disease	p.Arg172Trp	VAR_054883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054883	- Maturity-onset diabetes of the young type 9 (MODY9) [MIM:612225]	SWISS	2	cd00086	NULL
5078	3914276	Disease	p.Arg172Trp	VAR_054883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054883	- Maturity-onset diabetes of the young type 9 (MODY9) [MIM:612225]	SWISS	2	pfam00046	NULL
5078	3914276	Disease	p.Arg172Trp	VAR_054883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054883	- Maturity-onset diabetes of the young type 9 (MODY9) [MIM:612225]	SWISS	2	smart00389	NULL
5080	6174889	Disease	p.Asn17Ser	VAR_003808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003808	- Aniridia (AN) [MIM:106210]	SWISS	14	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Asn17Ser	VAR_003808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003808	- Aniridia (AN) [MIM:106210]	SWISS	14	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Asn17Ser	VAR_003808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003808	- Aniridia (AN) [MIM:106210]	SWISS	14	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly18Trp	VAR_003809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003809	- Aniridia (AN) [MIM:106210]	SWISS	15	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly18Trp	VAR_003809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003809	- Aniridia (AN) [MIM:106210]	SWISS	15	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly18Trp	VAR_003809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003809	- Aniridia (AN) [MIM:106210]	SWISS	15	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly18Trp	VAR_003809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003809	- Peters anomaly [MIM:604229]	SWISS	15	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly18Trp	VAR_003809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003809	- Peters anomaly [MIM:604229]	SWISS	15	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly18Trp	VAR_003809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003809	- Peters anomaly [MIM:604229]	SWISS	15	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg19Pro	VAR_047860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047860	- Aniridia (AN) [MIM:106210]	SWISS	16	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg19Pro	VAR_047860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047860	- Aniridia (AN) [MIM:106210]	SWISS	16	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg19Pro	VAR_047860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047860	- Aniridia (AN) [MIM:106210]	SWISS	16	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg19Pro	VAR_047860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047860	- Aniridia (AN) [MIM:106210]	SWISS	2	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg26Gly	VAR_003810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003810	- Peters anomaly [MIM:604229]	SWISS	23	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg26Gly	VAR_003810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003810	- Peters anomaly [MIM:604229]	SWISS	23	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg26Gly	VAR_003810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003810	- Peters anomaly [MIM:604229]	SWISS	23	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg26Gly	VAR_003810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003810	- Peters anomaly [MIM:604229]	SWISS	10	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile29Ser	VAR_008694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008694	- Aniridia (AN) [MIM:106210]	SWISS	26	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile29Ser	VAR_008694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008694	- Aniridia (AN) [MIM:106210]	SWISS	26	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile29Ser	VAR_008694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008694	- Aniridia (AN) [MIM:106210]	SWISS	26	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile29Ser	VAR_008694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008694	- Aniridia (AN) [MIM:106210]	SWISS	13	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile29Val	VAR_003811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003811	- Aniridia (AN) [MIM:106210]	SWISS	26	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile29Val	VAR_003811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003811	- Aniridia (AN) [MIM:106210]	SWISS	26	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile29Val	VAR_003811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003811	- Aniridia (AN) [MIM:106210]	SWISS	26	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile29Val	VAR_003811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003811	- Aniridia (AN) [MIM:106210]	SWISS	13	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ala33Pro	VAR_008695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008695	- Aniridia (AN) [MIM:106210]	SWISS	30	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ala33Pro	VAR_008695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008695	- Aniridia (AN) [MIM:106210]	SWISS	30	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ala33Pro	VAR_008695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008695	- Aniridia (AN) [MIM:106210]	SWISS	30	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ala33Pro	VAR_008695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008695	- Aniridia (AN) [MIM:106210]	SWISS	17	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile42Ser	VAR_008697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008697	- Aniridia (AN) [MIM:106210]	SWISS	39	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile42Ser	VAR_008697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008697	- Aniridia (AN) [MIM:106210]	SWISS	39	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile42Ser	VAR_008697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008697	- Aniridia (AN) [MIM:106210]	SWISS	39	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile42Ser	VAR_008697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008697	- Aniridia (AN) [MIM:106210]	SWISS	32	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ser43Pro	VAR_008698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008698	- Aniridia (AN) [MIM:106210]	SWISS	40	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ser43Pro	VAR_008698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008698	- Aniridia (AN) [MIM:106210]	SWISS	40	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ser43Pro	VAR_008698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008698	- Aniridia (AN) [MIM:106210]	SWISS	40	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ser43Pro	VAR_008698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008698	- Aniridia (AN) [MIM:106210]	SWISS	33	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg44Gln	VAR_003812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003812	- Aniridia (AN) [MIM:106210]	SWISS	41	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg44Gln	VAR_003812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003812	- Aniridia (AN) [MIM:106210]	SWISS	41	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg44Gln	VAR_003812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003812	- Aniridia (AN) [MIM:106210]	SWISS	41	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg44Gln	VAR_003812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003812	- Aniridia (AN) [MIM:106210]	SWISS	34	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Leu46Arg	VAR_047861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047861	- Aniridia (AN) [MIM:106210]	SWISS	43	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Leu46Arg	VAR_047861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047861	- Aniridia (AN) [MIM:106210]	SWISS	43	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Leu46Arg	VAR_047861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047861	- Aniridia (AN) [MIM:106210]	SWISS	43	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Leu46Arg	VAR_047861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047861	- Aniridia (AN) [MIM:106210]	SWISS	36	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Cys52Arg	VAR_047862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047862	- Aniridia (AN) [MIM:106210]	SWISS	49	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Cys52Arg	VAR_047862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047862	- Aniridia (AN) [MIM:106210]	SWISS	49	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Cys52Arg	VAR_047862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047862	- Aniridia (AN) [MIM:106210]	SWISS	49	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Cys52Arg	VAR_047862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047862	- Aniridia (AN) [MIM:106210]	SWISS	43	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val53Asp	VAR_008700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008700	- Foveal hypoplasia [MIM:136520]	SWISS	50	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val53Asp	VAR_008700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008700	- Foveal hypoplasia [MIM:136520]	SWISS	50	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val53Asp	VAR_008700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008700	- Foveal hypoplasia [MIM:136520]	SWISS	50	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val53Asp	VAR_008700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008700	- Foveal hypoplasia [MIM:136520]	SWISS	44	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val53Asp	VAR_008700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008700	- Peters anomaly [MIM:604229]	SWISS	50	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val53Asp	VAR_008700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008700	- Peters anomaly [MIM:604229]	SWISS	50	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val53Asp	VAR_008700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008700	- Peters anomaly [MIM:604229]	SWISS	50	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val53Asp	VAR_008700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008700	- Peters anomaly [MIM:604229]	SWISS	44	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val53Leu	VAR_008699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008699	- Aniridia (AN) [MIM:106210]	SWISS	50	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val53Leu	VAR_008699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008699	- Aniridia (AN) [MIM:106210]	SWISS	50	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val53Leu	VAR_008699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008699	- Aniridia (AN) [MIM:106210]	SWISS	50	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val53Leu	VAR_008699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008699	- Aniridia (AN) [MIM:106210]	SWISS	44	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile56Thr	VAR_047863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047863	- Aniridia (AN) [MIM:106210]	SWISS	53	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile56Thr	VAR_047863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047863	- Aniridia (AN) [MIM:106210]	SWISS	53	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile56Thr	VAR_047863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047863	- Aniridia (AN) [MIM:106210]	SWISS	53	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile56Thr	VAR_047863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047863	- Aniridia (AN) [MIM:106210]	SWISS	47	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Thr63Pro	VAR_008701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008701	- Aniridia (AN) [MIM:106210]	SWISS	60	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Thr63Pro	VAR_008701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008701	- Aniridia (AN) [MIM:106210]	SWISS	60	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Thr63Pro	VAR_008701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008701	- Aniridia (AN) [MIM:106210]	SWISS	60	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Thr63Pro	VAR_008701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008701	- Aniridia (AN) [MIM:106210]	SWISS	54	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly64Val	VAR_008702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008702	- Foveal hypoplasia [MIM:136520]	SWISS	61	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly64Val	VAR_008702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008702	- Foveal hypoplasia [MIM:136520]	SWISS	61	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly64Val	VAR_008702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008702	- Foveal hypoplasia [MIM:136520]	SWISS	61	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly64Val	VAR_008702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008702	- Foveal hypoplasia [MIM:136520]	SWISS	55	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly73Asp	VAR_047864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047864	- Aniridia (AN) [MIM:106210]	SWISS	70	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly73Asp	VAR_047864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047864	- Aniridia (AN) [MIM:106210]	SWISS	70	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly73Asp	VAR_047864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047864	- Aniridia (AN) [MIM:106210]	SWISS	70	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gly73Asp	VAR_047864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047864	- Aniridia (AN) [MIM:106210]	SWISS	70	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ala79Glu	VAR_008703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008703	- Aniridia (AN) [MIM:106210]	SWISS	77	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ala79Glu	VAR_008703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008703	- Aniridia (AN) [MIM:106210]	SWISS	78	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ala79Glu	VAR_008703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008703	- Aniridia (AN) [MIM:106210]	SWISS	77	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ala79Glu	VAR_008703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008703	- Aniridia (AN) [MIM:106210]	SWISS	76	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile87Lys	VAR_047865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047865	- Aniridia (AN) [MIM:106210]	SWISS	85	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile87Lys	VAR_047865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047865	- Aniridia (AN) [MIM:106210]	SWISS	86	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile87Lys	VAR_047865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047865	- Aniridia (AN) [MIM:106210]	SWISS	85	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile87Lys	VAR_047865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047865	- Aniridia (AN) [MIM:106210]	SWISS	93	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile87Arg	VAR_003813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003813	- Aniridia (AN) [MIM:106210]	SWISS	85	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile87Arg	VAR_003813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003813	- Aniridia (AN) [MIM:106210]	SWISS	86	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile87Arg	VAR_003813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003813	- Aniridia (AN) [MIM:106210]	SWISS	85	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ile87Arg	VAR_003813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003813	- Aniridia (AN) [MIM:106210]	SWISS	93	cd00090	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ser119Arg	VAR_008704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008704	- Aniridia (AN) [MIM:106210]	SWISS	117	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ser119Arg	VAR_008704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008704	- Aniridia (AN) [MIM:106210]	SWISS	118	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ser119Arg	VAR_008704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008704	- Aniridia (AN) [MIM:106210]	SWISS	117	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg125Cys	VAR_017541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017541	- Foveal hypoplasia [MIM:136520]	SWISS	123	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg125Cys	VAR_017541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017541	- Foveal hypoplasia [MIM:136520]	SWISS	124	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg125Cys	VAR_017541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017541	- Foveal hypoplasia [MIM:136520]	SWISS	123	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val126Asp	VAR_008705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008705	- Ectopia pupillae [MIM:129750]	SWISS	124	pfam00292	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val126Asp	VAR_008705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008705	- Ectopia pupillae [MIM:129750]	SWISS	125	smart00351	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Val126Asp	VAR_008705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008705	- Ectopia pupillae [MIM:129750]	SWISS	124	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg128Cys	VAR_003814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003814	- Foveal hypoplasia [MIM:136520]	SWISS	126	cd00131	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gln178His	VAR_003815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003815	- Aniridia (AN) [MIM:106210]	SWISS	13	COG5576	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg208Gln	VAR_008706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008706	- Aniridia (AN) [MIM:106210]	SWISS	43	COG5576	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg208Trp	VAR_003816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003816	- Aniridia (AN) [MIM:106210]	SWISS	43	COG5576	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg242Thr	VAR_047866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047866	- Aniridia (AN) [MIM:106210]	SWISS	83	COG5576	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg242Thr	VAR_047866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047866	- Aniridia (AN) [MIM:106210]	SWISS	43	cd00086	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg242Thr	VAR_047866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047866	- Aniridia (AN) [MIM:106210]	SWISS	51	smart00389	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Arg242Thr	VAR_047866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047866	- Aniridia (AN) [MIM:106210]	SWISS	37	pfam00046	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Phe258Ser	VAR_017542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017542	- Ocular coloboma [MIM:120200]	SWISS	101	COG5576	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Phe258Ser	VAR_017542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017542	- Ocular coloboma [MIM:120200]	SWISS	80	cd00086	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Phe258Ser	VAR_017542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017542	- Ocular coloboma [MIM:120200]	SWISS	88	smart00389	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Phe258Ser	VAR_017542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017542	- Ocular coloboma [MIM:120200]	SWISS	58	pfam00046	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ser292Ile	VAR_017543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017543	- Bilateral optic nerve hypoplasia (BONH) [MIM:165550]	SWISS	137	COG5576	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ser353Ala	VAR_008707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008707	- Aniridia (AN) [MIM:106210]	SWISS	No Domain	N/A	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Ser363Pro	VAR_017544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017544	- Peters anomaly [MIM:604229]	SWISS	No Domain	N/A	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Pro375Gln	VAR_015066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015066	- Aniridia (AN) [MIM:106210]	SWISS	No Domain	N/A	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Met381Val	VAR_017546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017546	- Bilateral optic nerve hypoplasia (BONH) [MIM:165550]	SWISS	No Domain	N/A	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Thr391Ala	VAR_017547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017547	- Bilateral optic nerve hypoplasia (BONH) [MIM:165550]	SWISS	No Domain	N/A	4505615,NP_000271|189083681,NP_001121084
5080	6174889	Disease	p.Gln422Arg	VAR_008708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008708	- Aniridia (AN) [MIM:106210]	SWISS	No Domain	N/A	4505615,NP_000271|189083681,NP_001121084
7849	215273928	Disease	p.Arg31His	VAR_012769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012769	- Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]	SWISS	23	cd00131	5803117,NP_003457
7849	215273928	Disease	p.Arg31His	VAR_012769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012769	- Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]	SWISS	23	smart00351	5803117,NP_003457
7849	215273928	Disease	p.Arg31His	VAR_012769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012769	- Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]	SWISS	23	pfam00292	5803117,NP_003457
7849	215273928	Disease	p.Gln40Pro	VAR_012770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012770	- Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]	SWISS	32	cd00131	5803117,NP_003457
7849	215273928	Disease	p.Gln40Pro	VAR_012770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012770	- Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]	SWISS	32	smart00351	5803117,NP_003457
7849	215273928	Disease	p.Gln40Pro	VAR_012770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012770	- Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]	SWISS	32	pfam00292	5803117,NP_003457
7849	215273928	Disease	p.Cys57Tyr	VAR_012771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012771	- Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]	SWISS	49	cd00131	5803117,NP_003457
7849	215273928	Disease	p.Cys57Tyr	VAR_012771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012771	- Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]	SWISS	49	smart00351	5803117,NP_003457
7849	215273928	Disease	p.Cys57Tyr	VAR_012771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012771	- Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]	SWISS	49	pfam00292	5803117,NP_003457
7849	215273928	Disease	p.Leu62Arg	VAR_012772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012772	- Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]	SWISS	54	cd00131	5803117,NP_003457
7849	215273928	Disease	p.Leu62Arg	VAR_012772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012772	- Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]	SWISS	54	smart00351	5803117,NP_003457
7849	215273928	Disease	p.Leu62Arg	VAR_012772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012772	- Congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]	SWISS	54	pfam00292	5803117,NP_003457
5083	8247954	Disease	p.Gly51Ser	VAR_015698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015698	- Tooth agenesis selective type 3 (STHAG3) [MIM:604625]	SWISS	48	pfam00292	7242167,NP_006185
5083	8247954	Disease	p.Gly51Ser	VAR_015698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015698	- Tooth agenesis selective type 3 (STHAG3) [MIM:604625]	SWISS	48	smart00351	7242167,NP_006185
5083	8247954	Disease	p.Gly51Ser	VAR_015698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015698	- Tooth agenesis selective type 3 (STHAG3) [MIM:604625]	SWISS	48	cd00131	7242167,NP_006185
5091	1709947	Disease	p.Val145Ala	VAR_015199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015199	rs28940591 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	110	COG4770	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Val145Ala	VAR_015199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015199	rs28940591 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	136	COG0439	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Val145Ala	VAR_015199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015199	rs28940591 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	115	COG0458	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Val145Ala	VAR_015199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015199	rs28940591 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	202	pfam00289	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Val145Ala	VAR_015199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015199	rs28940591 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	121	COG1038	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg156Gln	VAR_058957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058957	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	121	COG4770	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg156Gln	VAR_058957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058957	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	147	COG0439	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg156Gln	VAR_058957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058957	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	126	COG0458	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg156Gln	VAR_058957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058957	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	6	pfam02786	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg156Gln	VAR_058957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058957	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	132	COG1038	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg270Trp	VAR_058958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058958	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	120	pfam02222	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg270Trp	VAR_058958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058958	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	117	pfam07478	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg270Trp	VAR_058958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058958	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	235	COG4770	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg270Trp	VAR_058958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058958	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	303	COG0439	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg270Trp	VAR_058958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058958	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	297	COG0458	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg270Trp	VAR_058958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058958	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	123	pfam02786	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg270Trp	VAR_058958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058958	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	246	COG1038	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Tyr304Cys	VAR_058959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058959	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	157	pfam02222	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Tyr304Cys	VAR_058959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058959	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	167	pfam07478	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Tyr304Cys	VAR_058959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058959	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	269	COG4770	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Tyr304Cys	VAR_058959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058959	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	342	COG0439	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Tyr304Cys	VAR_058959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058959	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	331	COG0458	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Tyr304Cys	VAR_058959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058959	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	157	pfam02786	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Tyr304Cys	VAR_058959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058959	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	280	COG1038	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg451Cys	VAR_015200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015200	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	224	smart00878	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg451Cys	VAR_015200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015200	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	130	pfam02785	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg451Cys	VAR_015200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015200	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	439	COG4770	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg451Cys	VAR_015200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015200	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	550	COG0439	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg451Cys	VAR_015200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015200	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	431	COG1038	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg583Leu	VAR_058960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058960	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	13	pfam00682	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg583Leu	VAR_058960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058960	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	19	cd07937	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg583Leu	VAR_058960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058960	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	26	COG5016	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg583Leu	VAR_058960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058960	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	22	cd03174	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg583Leu	VAR_058960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058960	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	626	COG4770	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg583Leu	VAR_058960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058960	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	573	COG1038	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Ala610Thr	VAR_008095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008095	rs28940589 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	38	pfam00682	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Ala610Thr	VAR_008095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008095	rs28940589 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	49	cd07937	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Ala610Thr	VAR_008095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008095	rs28940589 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	51	COG5016	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Ala610Thr	VAR_008095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008095	rs28940589 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	52	cd03174	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Ala610Thr	VAR_008095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008095	rs28940589 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	685	COG4770	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Ala610Thr	VAR_008095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008095	rs28940589 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	600	COG1038	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg631Gln	VAR_058961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058961	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	62	pfam00682	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg631Gln	VAR_058961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058961	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	70	cd07937	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg631Gln	VAR_058961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058961	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	72	COG5016	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg631Gln	VAR_058961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058961	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	78	cd03174	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg631Gln	VAR_058961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058961	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	709	COG4770	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Arg631Gln	VAR_058961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058961	- Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	621	COG1038	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Met743Ile	VAR_008096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008096	rs28940590 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	203	pfam00682	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Met743Ile	VAR_008096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008096	rs28940590 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	214	cd07937	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Met743Ile	VAR_008096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008096	rs28940590 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	186	COG5016	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Met743Ile	VAR_008096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008096	rs28940590 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	344	cd03174	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Met743Ile	VAR_008096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008096	rs28940590 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	286	cd07938	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5091	1709947	Disease	p.Met743Ile	VAR_008096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008096	rs28940590 Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]	SWISS	735	COG1038	106049292,NP_071504|106049528,NP_001035806|106049295,NP_000911
5092	47606444	Disease	p.Cys82Arg	VAR_005528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005528	- BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]	SWISS	84	COG2154	4557831,NP_000272
5092	47606444	Disease	p.Cys82Arg	VAR_005528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005528	- BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]	SWISS	130	pfam01329	4557831,NP_000272
5092	47606444	Disease	p.Cys82Arg	VAR_005528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005528	- BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]	SWISS	67	cd00488	4557831,NP_000272
5092	47606444	Disease	p.Cys82Arg	VAR_005528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005528	- BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]	SWISS	61	cd00914	4557831,NP_000272
5092	47606444	Disease	p.Cys82Arg	VAR_005528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005528	- BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]	SWISS	63	cd00913	4557831,NP_000272
5092	47606444	Disease	p.Arg88Gln	VAR_005529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005529	- BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]	SWISS	97	COG2154	4557831,NP_000272
5092	47606444	Disease	p.Arg88Gln	VAR_005529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005529	- BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]	SWISS	143	pfam01329	4557831,NP_000272
5092	47606444	Disease	p.Arg88Gln	VAR_005529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005529	- BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]	SWISS	77	cd00488	4557831,NP_000272
5092	47606444	Disease	p.Arg88Gln	VAR_005529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005529	- BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]	SWISS	68	cd00914	4557831,NP_000272
5092	47606444	Disease	p.Arg88Gln	VAR_005529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005529	- BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]	SWISS	73	cd00913	4557831,NP_000272
5092	47606444	Disease	p.Glu97Lys	VAR_005530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005530	- BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]	SWISS	106	COG2154	4557831,NP_000272
5092	47606444	Disease	p.Glu97Lys	VAR_005530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005530	- BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]	SWISS	152	pfam01329	4557831,NP_000272
5092	47606444	Disease	p.Glu97Lys	VAR_005530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005530	- BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]	SWISS	86	cd00488	4557831,NP_000272
5092	47606444	Disease	p.Glu97Lys	VAR_005530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005530	- BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]	SWISS	77	cd00914	4557831,NP_000272
5092	47606444	Disease	p.Glu97Lys	VAR_005530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005530	- BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]	SWISS	82	cd00913	4557831,NP_000272
5095	308153661	Disease	p.Ala75Pro	VAR_009087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009087	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	24	pfam00289	65506442,NP_000273
5095	308153661	Disease	p.Ala75Pro	VAR_009087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009087	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	19	COG1038	65506442,NP_000273
5095	308153661	Disease	p.Ala75Pro	VAR_009087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009087	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	14	COG4770	65506442,NP_000273
5095	308153661	Disease	p.Ala75Pro	VAR_009087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009087	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	18	COG0439	65506442,NP_000273
5095	308153661	Disease	p.Ala75Pro	VAR_009087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009087	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	14	COG1181	65506442,NP_000273
5095	308153661	Disease	p.Ala75Pro	VAR_009087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009087	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	17	COG0458	65506442,NP_000273
5095	308153661	Disease	p.Arg77Trp	VAR_009088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009088	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	26	pfam00289	65506442,NP_000273
5095	308153661	Disease	p.Arg77Trp	VAR_009088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009088	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	21	COG1038	65506442,NP_000273
5095	308153661	Disease	p.Arg77Trp	VAR_009088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009088	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	16	COG4770	65506442,NP_000273
5095	308153661	Disease	p.Arg77Trp	VAR_009088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009088	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	20	COG0439	65506442,NP_000273
5095	308153661	Disease	p.Arg77Trp	VAR_009088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009088	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	16	COG1181	65506442,NP_000273
5095	308153661	Disease	p.Arg77Trp	VAR_009088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009088	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	20	COG0458	65506442,NP_000273
5095	308153661	Disease	p.Ala138Thr	VAR_009089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009089	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	164	pfam00289	65506442,NP_000273
5095	308153661	Disease	p.Ala138Thr	VAR_009089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009089	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	89	COG1038	65506442,NP_000273
5095	308153661	Disease	p.Ala138Thr	VAR_009089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009089	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	77	COG4770	65506442,NP_000273
5095	308153661	Disease	p.Ala138Thr	VAR_009089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009089	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	98	COG0439	65506442,NP_000273
5095	308153661	Disease	p.Ala138Thr	VAR_009089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009089	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	136	COG1181	65506442,NP_000273
5095	308153661	Disease	p.Ala138Thr	VAR_009089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009089	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	78	COG0458	65506442,NP_000273
5095	308153661	Disease	p.Ile164Thr	VAR_009090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009090	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	196	pfam00289	65506442,NP_000273
5095	308153661	Disease	p.Ile164Thr	VAR_009090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009090	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	115	COG1038	65506442,NP_000273
5095	308153661	Disease	p.Ile164Thr	VAR_009090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009090	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	104	COG4770	65506442,NP_000273
5095	308153661	Disease	p.Ile164Thr	VAR_009090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009090	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	130	COG0439	65506442,NP_000273
5095	308153661	Disease	p.Ile164Thr	VAR_009090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009090	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	165	COG1181	65506442,NP_000273
5095	308153661	Disease	p.Ile164Thr	VAR_009090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009090	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	109	COG0458	65506442,NP_000273
5095	308153661	Disease	p.Gly197Glu	VAR_023843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023843	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	14	pfam07478	65506442,NP_000273
5095	308153661	Disease	p.Gly197Glu	VAR_023843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023843	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	22	pfam02786	65506442,NP_000273
5095	308153661	Disease	p.Gly197Glu	VAR_023843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023843	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	148	COG1038	65506442,NP_000273
5095	308153661	Disease	p.Gly197Glu	VAR_023843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023843	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	30	pfam08443	65506442,NP_000273
5095	308153661	Disease	p.Gly197Glu	VAR_023843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023843	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	137	COG4770	65506442,NP_000273
5095	308153661	Disease	p.Gly197Glu	VAR_023843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023843	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	167	COG0439	65506442,NP_000273
5095	308153661	Disease	p.Gly197Glu	VAR_023843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023843	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	197	COG1181	65506442,NP_000273
5095	308153661	Disease	p.Gly197Glu	VAR_023843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023843	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	193	COG0458	65506442,NP_000273
5095	308153661	Disease	p.Met229Lys	VAR_009091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009091	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	55	pfam07478	65506442,NP_000273
5095	308153661	Disease	p.Met229Lys	VAR_009091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009091	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	55	pfam02786	65506442,NP_000273
5095	308153661	Disease	p.Met229Lys	VAR_009091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009091	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	180	COG1038	65506442,NP_000273
5095	308153661	Disease	p.Met229Lys	VAR_009091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009091	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	66	pfam08443	65506442,NP_000273
5095	308153661	Disease	p.Met229Lys	VAR_009091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009091	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	169	COG4770	65506442,NP_000273
5095	308153661	Disease	p.Met229Lys	VAR_009091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009091	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	221	COG0439	65506442,NP_000273
5095	308153661	Disease	p.Met229Lys	VAR_009091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009091	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	238	COG1181	65506442,NP_000273
5095	308153661	Disease	p.Met229Lys	VAR_009091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009091	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	232	COG0458	65506442,NP_000273
5095	308153661	Disease	p.Gln297Arg	VAR_009092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009092	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	127	pfam07478	65506442,NP_000273
5095	308153661	Disease	p.Gln297Arg	VAR_009092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009092	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	125	pfam02786	65506442,NP_000273
5095	308153661	Disease	p.Gln297Arg	VAR_009092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009092	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	248	COG1038	65506442,NP_000273
5095	308153661	Disease	p.Gln297Arg	VAR_009092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009092	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	136	pfam08443	65506442,NP_000273
5095	308153661	Disease	p.Gln297Arg	VAR_009092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009092	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	237	COG4770	65506442,NP_000273
5095	308153661	Disease	p.Gln297Arg	VAR_009092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009092	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	305	COG0439	65506442,NP_000273
5095	308153661	Disease	p.Gln297Arg	VAR_009092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009092	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	317	COG1181	65506442,NP_000273
5095	308153661	Disease	p.Gln297Arg	VAR_009092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009092	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	301	COG0458	65506442,NP_000273
5095	308153661	Disease	p.Asp368Gly	VAR_009093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009093	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	214	pfam07478	65506442,NP_000273
5095	308153661	Disease	p.Asp368Gly	VAR_009093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009093	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	199	pfam02786	65506442,NP_000273
5095	308153661	Disease	p.Asp368Gly	VAR_009093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009093	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	320	COG1038	65506442,NP_000273
5095	308153661	Disease	p.Asp368Gly	VAR_009093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009093	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	200	pfam08443	65506442,NP_000273
5095	308153661	Disease	p.Asp368Gly	VAR_009093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009093	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	320	COG4770	65506442,NP_000273
5095	308153661	Disease	p.Asp368Gly	VAR_009093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009093	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	401	COG0439	65506442,NP_000273
5095	308153661	Disease	p.Asp368Gly	VAR_009093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009093	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	411	COG1181	65506442,NP_000273
5095	308153661	Disease	p.Asp368Gly	VAR_009093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009093	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	394	COG0458	65506442,NP_000273
5095	308153661	Disease	p.Met373Lys	VAR_009094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009094	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	219	pfam07478	65506442,NP_000273
5095	308153661	Disease	p.Met373Lys	VAR_009094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009094	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	204	pfam02786	65506442,NP_000273
5095	308153661	Disease	p.Met373Lys	VAR_009094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009094	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	325	COG1038	65506442,NP_000273
5095	308153661	Disease	p.Met373Lys	VAR_009094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009094	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	205	pfam08443	65506442,NP_000273
5095	308153661	Disease	p.Met373Lys	VAR_009094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009094	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	325	COG4770	65506442,NP_000273
5095	308153661	Disease	p.Met373Lys	VAR_009094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009094	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	406	COG0439	65506442,NP_000273
5095	308153661	Disease	p.Met373Lys	VAR_009094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009094	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	416	COG1181	65506442,NP_000273
5095	308153661	Disease	p.Met373Lys	VAR_009094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009094	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	399	COG0458	65506442,NP_000273
5095	308153661	Disease	p.Gly379Val	VAR_009095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009095	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	210	pfam02786	65506442,NP_000273
5095	308153661	Disease	p.Gly379Val	VAR_009095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009095	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	331	COG1038	65506442,NP_000273
5095	308153661	Disease	p.Gly379Val	VAR_009095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009095	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	331	COG4770	65506442,NP_000273
5095	308153661	Disease	p.Gly379Val	VAR_009095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009095	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	412	COG0439	65506442,NP_000273
5095	308153661	Disease	p.Gly379Val	VAR_009095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009095	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	405	COG0458	65506442,NP_000273
5095	308153661	Disease	p.Cys398Arg	VAR_023844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023844	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	356	COG1038	65506442,NP_000273
5095	308153661	Disease	p.Cys398Arg	VAR_023844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023844	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	2	pfam02785	65506442,NP_000273
5095	308153661	Disease	p.Cys398Arg	VAR_023844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023844	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	2	smart00878	65506442,NP_000273
5095	308153661	Disease	p.Cys398Arg	VAR_023844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023844	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	350	COG4770	65506442,NP_000273
5095	308153661	Disease	p.Cys398Arg	VAR_023844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023844	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	460	COG0439	65506442,NP_000273
5095	308153661	Disease	p.Cys398Arg	VAR_023844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023844	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	427	COG0458	65506442,NP_000273
5095	308153661	Disease	p.Arg399Gln	VAR_009096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009096	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	357	COG1038	65506442,NP_000273
5095	308153661	Disease	p.Arg399Gln	VAR_009096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009096	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	3	pfam02785	65506442,NP_000273
5095	308153661	Disease	p.Arg399Gln	VAR_009096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009096	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	3	smart00878	65506442,NP_000273
5095	308153661	Disease	p.Arg399Gln	VAR_009096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009096	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	351	COG4770	65506442,NP_000273
5095	308153661	Disease	p.Arg399Gln	VAR_009096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009096	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	461	COG0439	65506442,NP_000273
5095	308153661	Disease	p.Arg399Gln	VAR_009096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009096	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	428	COG0458	65506442,NP_000273
5095	308153661	Disease	p.Pro423Leu	VAR_009097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009097	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	380	COG1038	65506442,NP_000273
5095	308153661	Disease	p.Pro423Leu	VAR_009097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009097	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	51	pfam02785	65506442,NP_000273
5095	308153661	Disease	p.Pro423Leu	VAR_009097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009097	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	88	smart00878	65506442,NP_000273
5095	308153661	Disease	p.Pro423Leu	VAR_009097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009097	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	375	COG4770	65506442,NP_000273
5095	308153661	Disease	p.Pro423Leu	VAR_009097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009097	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	488	COG0439	65506442,NP_000273
5095	308153661	Disease	p.Pro423Leu	VAR_009097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009097	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	455	COG0458	65506442,NP_000273
5095	308153661	Disease	p.Trp559Leu	VAR_009099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009099	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	745_G	COG1038	65506442,NP_000273
5095	308153661	Disease	p.Trp559Leu	VAR_009099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009099	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	516	COG4770	65506442,NP_000273
5095	308153661	Disease	p.Gly631Arg	VAR_009100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009100	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	1014	COG1038	65506442,NP_000273
5095	308153661	Disease	p.Gly631Arg	VAR_009100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009100	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	87	COG0511	65506442,NP_000273
5095	308153661	Disease	p.Gly631Arg	VAR_009100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009100	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	615	COG4770	65506442,NP_000273
5095	308153661	Disease	p.Gly668Arg	VAR_009101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009101	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	15	cd06663	65506442,NP_000273
5095	308153661	Disease	p.Gly668Arg	VAR_009101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009101	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	9	cd06850	65506442,NP_000273
5095	308153661	Disease	p.Gly668Arg	VAR_009101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009101	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	9	pfam00364	65506442,NP_000273
5095	308153661	Disease	p.Gly668Arg	VAR_009101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009101	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	9	cd06849	65506442,NP_000273
5095	308153661	Disease	p.Gly668Arg	VAR_009101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009101	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	1115	COG1038	65506442,NP_000273
5095	308153661	Disease	p.Gly668Arg	VAR_009101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009101	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	124	COG0511	65506442,NP_000273
5095	308153661	Disease	p.Gly668Arg	VAR_009101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009101	- Propionic acidemia type I (PA-1) [MIM:606054]	SWISS	652	COG4770	65506442,NP_000273
5096	124106304	Disease	p.Leu17Met	VAR_009080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009080	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	No Domain	N/A	119943100,NP_000523
5096	124106304	Disease	p.Arg44Pro	VAR_000271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000271	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	26	COG0777	119943100,NP_000523
5096	124106304	Disease	p.Arg44Pro	VAR_000271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000271	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	23	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Arg67Ser	VAR_023847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023847	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	77	COG0777	119943100,NP_000523
5096	124106304	Disease	p.Arg67Ser	VAR_023847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023847	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	11	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Arg67Ser	VAR_023847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023847	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	48	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Ser106Arg	VAR_000272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000272	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	126	COG0777	119943100,NP_000523
5096	124106304	Disease	p.Ser106Arg	VAR_000272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000272	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	51	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Ser106Arg	VAR_000272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000272	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	99	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Val107Met	VAR_023848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023848	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	127	COG0777	119943100,NP_000523
5096	124106304	Disease	p.Val107Met	VAR_023848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023848	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	52	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Val107Met	VAR_023848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023848	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	100	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Gly112Asp	VAR_023849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023849	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	132	COG0777	119943100,NP_000523
5096	124106304	Disease	p.Gly112Asp	VAR_023849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023849	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	57	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Gly112Asp	VAR_023849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023849	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	105	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Gly131Arg	VAR_000273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000273	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	151	COG0777	119943100,NP_000523
5096	124106304	Disease	p.Gly131Arg	VAR_000273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000273	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	76	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Gly131Arg	VAR_000273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000273	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	131	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Ala153Pro	VAR_023850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023850	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	178	COG0777	119943100,NP_000523
5096	124106304	Disease	p.Ala153Pro	VAR_023850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023850	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	116	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Ala153Pro	VAR_023850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023850	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	153	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Arg165Gln	VAR_023851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023851	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	190	COG0777	119943100,NP_000523
5096	124106304	Disease	p.Arg165Gln	VAR_023851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023851	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	128	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Arg165Gln	VAR_023851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023851	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	165	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Arg165Trp	VAR_000274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000274	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	190	COG0777	119943100,NP_000523
5096	124106304	Disease	p.Arg165Trp	VAR_000274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000274	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	128	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Arg165Trp	VAR_000274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000274	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	165	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Glu168Lys	VAR_000275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000275	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	193	COG0777	119943100,NP_000523
5096	124106304	Disease	p.Glu168Lys	VAR_000275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000275	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	134	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Glu168Lys	VAR_000275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000275	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	168	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Gly188Arg	VAR_023852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023852	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	213	COG0777	119943100,NP_000523
5096	124106304	Disease	p.Gly188Arg	VAR_023852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023852	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	154	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Gly188Arg	VAR_023852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023852	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	192	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Gly198Asp	VAR_000276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000276	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	224	COG0777	119943100,NP_000523
5096	124106304	Disease	p.Gly198Asp	VAR_000276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000276	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	165	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Gly198Asp	VAR_000276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000276	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	203	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Val205Asp	VAR_009082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009082	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	233	COG0777	119943100,NP_000523
5096	124106304	Disease	p.Val205Asp	VAR_009082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009082	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	172	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Val205Asp	VAR_009082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009082	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	210	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Pro228Leu	VAR_009083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009083	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	256	COG0777	119943100,NP_000523
5096	124106304	Disease	p.Pro228Leu	VAR_009083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009083	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	196	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Pro228Leu	VAR_009083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009083	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	247	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Gly246Val	VAR_023853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023853	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	304	COG0777	119943100,NP_000523
5096	124106304	Disease	p.Gly246Val	VAR_023853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023853	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	230	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Gly246Val	VAR_023853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023853	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	267	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Arg410Trp	VAR_000278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000278	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	444	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Arg410Trp	VAR_000278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000278	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	468	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Thr428Ile	VAR_009084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009084	rs28934887 Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	462	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Thr428Ile	VAR_009084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009084	rs28934887 Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	486	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Ile430Leu	VAR_023855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023855	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	464	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Ile430Leu	VAR_023855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023855	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	488	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Tyr435Cys	VAR_023856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023856	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	471	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Tyr435Cys	VAR_023856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023856	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	495	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Tyr439Cys	VAR_023857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023857	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	475	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Tyr439Cys	VAR_023857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023857	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	499	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Met442Thr	VAR_009085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009085	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	478	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Met442Thr	VAR_009085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009085	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	502	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Ala468Thr	VAR_023858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023858	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	507	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Ala468Thr	VAR_023858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023858	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	530	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Ala497Val	VAR_000279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000279	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	573	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Ala497Val	VAR_000279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000279	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	578	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Arg512Cys	VAR_000280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000280	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	588	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Arg512Cys	VAR_000280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000280	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	593	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Leu519Pro	VAR_000281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000281	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	595	pfam01039	119943100,NP_000523
5096	124106304	Disease	p.Leu519Pro	VAR_000281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000281	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	600	COG4799	119943100,NP_000523
5096	124106304	Disease	p.Asn536Asp	VAR_009086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009086	- Propionic acidemia type II (PA-2) [MIM:606054]	SWISS	618	COG4799	119943100,NP_000523
65217	116242702	Disease	p.Arg134Gly	VAR_024035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024035	- Deafness autosomal recessive type 23 (DFNB23) [MIM:609533]	SWISS	No Domain	N/A	115387123,NP_149045
65217	116242702	Disease	p.Gly262Asp	VAR_024036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024036	- Deafness autosomal recessive type 23 (DFNB23) [MIM:609533]	SWISS	176	cd00031	115387123,NP_149045
65217	116242702	Disease	p.Gly262Asp	VAR_024036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024036	- Deafness autosomal recessive type 23 (DFNB23) [MIM:609533]	SWISS	156	smart00112	115387123,NP_149045
65217	116242702	Disease	p.Gln1342Lys	VAR_024037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024037	- Usher syndrome type 1F (USH1F) [MIM:602083]	SWISS	No Domain	N/A	115387123,NP_149045
57526	73620979	Disease	p.Val441Glu	VAR_046484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046484	- Epilepsy female-restricted with mental retardation (EFMR) [MIM:300088]	SWISS	147	smart00112	296434287,NP_001171809
57526	73620979	Disease	p.Val441Glu	VAR_046484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046484	- Epilepsy female-restricted with mental retardation (EFMR) [MIM:300088]	SWISS	126	pfam00028	296434287,NP_001171809
57526	73620979	Disease	p.Val441Glu	VAR_046484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046484	- Epilepsy female-restricted with mental retardation (EFMR) [MIM:300088]	SWISS	362	cd00031	296434287,NP_001171809
57526	73620979	Disease	p.Asn557Lys	VAR_046485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046485	- Epilepsy female-restricted with mental retardation (EFMR) [MIM:300088]	SWISS	173	cd00031	296434287,NP_001171809
57526	73620979	Disease	p.Asn557Lys	VAR_046485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046485	- Epilepsy female-restricted with mental retardation (EFMR) [MIM:300088]	SWISS	153	smart00112	296434287,NP_001171809
5122	116242674	Disease	p.Ser307Leu	VAR_055002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055002	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	194	cd04843	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	VAR_055002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055002	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	310	cd04059	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	VAR_055002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055002	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	288	cd07487	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	VAR_055002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055002	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	184	cd07481	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	VAR_055002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055002	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	244	cd07473	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	VAR_055002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055002	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	271	cd07474	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	VAR_055002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055002	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	414	pfam00082	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	VAR_055002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055002	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	285	cd04848	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	VAR_055002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055002	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	265	cd07485	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	VAR_055002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055002	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	232	cd07489	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	VAR_055002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055002	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	188	cd07498	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	VAR_055002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055002	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	733	cd00306	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	VAR_055002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055002	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	207	cd07484	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	VAR_055002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055002	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	651	COG1404	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	VAR_055002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055002	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	170	cd07493	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	VAR_055002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055002	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	247	cd07482	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	VAR_055002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055002	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	226	cd07496	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	VAR_055002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055002	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	182	cd07477	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	VAR_055002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055002	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	262	cd04842	20336242,NP_000430
5122	116242674	Disease	p.Ser307Leu	VAR_055002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055002	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	310	cd07475	20336242,NP_000430
5122	116242674	Disease	p.Gly483Arg	VAR_022778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022778	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	11	COG4935	20336242,NP_000430
5122	116242674	Disease	p.Gly483Arg	VAR_022778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022778	- Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]	SWISS	1198	COG1404	20336242,NP_000430
255738	38258175	Disease	p.Ser127Arg	VAR_017199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017199	rs28942111 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	153	cd07483	NULL
255738	38258175	Disease	p.Ser127Arg	VAR_017199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017199	rs28942111 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	126	COG1404	NULL
255738	38258175	Disease	p.Ser127Arg	VAR_017199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017199	rs28942111 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	99	pfam05922	NULL
255738	38258175	Disease	p.Asp129Gly	VAR_058524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058524	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	155	cd07483	NULL
255738	38258175	Disease	p.Asp129Gly	VAR_058524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058524	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	128	COG1404	NULL
255738	38258175	Disease	p.Asp129Gly	VAR_058524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058524	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	101	pfam05922	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	231	cd07483	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	44	cd04843	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	301	COG1404	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	189	pfam00082	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	259	cd00306	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	55	cd07498	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	37	cd07477	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	45	cd04847	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	36	cd07490	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	44	cd05561	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	52	cd07482	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	40	cd07492	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	162	cd04059	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	90	cd04077	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	94	cd07496	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	43	cd07489	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	33	cd07493	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	41	cd04848	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	41	cd07476	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	85	cd04842	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	105	cd07475	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	82	cd07485	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	109	cd07487	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	75	cd07474	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	46	cd07481	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	55	cd07473	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	52_G	cd07480	NULL
255738	38258175	Disease	p.Arg215His	VAR_058526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058526	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	93	cd07484	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	232	cd07483	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	45	cd04843	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	302	COG1404	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	190	pfam00082	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	260	cd00306	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	56	cd07498	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	46	cd07477	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	46	cd04847	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	37	cd07490	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	45	cd05561	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	52_G	cd07482	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	41	cd07492	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	163	cd04059	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	130	cd04077	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	95	cd07496	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	44	cd07489	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	35	cd07493	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	80	cd04848	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	92	cd07476	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	86	cd04842	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	106	cd07475	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	83	cd07485	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	110	cd07487	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	76	cd07474	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	47	cd07481	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	56	cd07473	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	52_G	cd07480	NULL
255738	38258175	Disease	p.Phe216Leu	VAR_017200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017200	rs28942112 Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	94	cd07484	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	239	cd07483	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	47	cd04843	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	385	COG1404	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	246	pfam00082	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	262	cd00306	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	58	cd07498	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	48	cd07477	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	48	cd04847	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	39	cd07490	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	45_G	cd05561	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	54	cd07482	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	43	cd07492	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	165	cd04059	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	132	cd04077	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	97	cd07496	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	46	cd07489	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	37	cd07493	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	82	cd04848	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	94	cd07476	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	86_G	cd04842	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	108	cd07475	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	109	cd07485	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	112	cd07487	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	78	cd07474	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	60	cd07481	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	58	cd07473	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	52_G	cd07480	NULL
255738	38258175	Disease	p.Arg218Ser	VAR_058527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058527	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	97	cd07484	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	397	cd07483	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	261	cd04843	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	899	COG1404	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	626	pfam00082	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	1154	cd00306	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	262	cd07498	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	242	cd07477	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	304	cd04847	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	201	cd07490	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	179	cd05561	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	344	cd07482	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	209	cd07492	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	398	cd04059	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	395	cd04077	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	268	cd07496	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	312	cd07489	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	217	cd07493	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	403	cd04848	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	250	cd07476	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	498	cd04842	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	564	cd07475	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	308	cd07485	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	357	cd07487	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	502	cd07474	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	242_G	cd07481	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	336	cd07473	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	232	cd07480	NULL
255738	38258175	Disease	p.Arg357His	VAR_058530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058530	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	253	cd07484	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	415	cd07483	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	280	cd04843	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	932	COG1404	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	676	pfam00082	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	1232	cd00306	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	312	cd07498	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	264	cd07477	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	357	cd04847	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	226	cd07490	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	197	cd05561	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	361	cd07482	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	226	cd07492	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	436	cd04059	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	412	cd04077	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	310	cd07496	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	437	cd07489	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	235	cd07493	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	439	cd04848	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	266	cd07476	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	537	cd04842	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	597	cd07475	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	342	cd07485	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	405	cd07487	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	539	cd07474	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	257	cd07481	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	372	cd07473	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	271	cd07480	NULL
255738	38258175	Disease	p.Asp374His	VAR_058531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058531	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	283	cd07484	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	415	cd07483	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	280	cd04843	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	932	COG1404	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	676	pfam00082	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	1232	cd00306	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	312	cd07498	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	264	cd07477	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	357	cd04847	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	226	cd07490	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	197	cd05561	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	361	cd07482	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	226	cd07492	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	436	cd04059	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	412	cd04077	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	310	cd07496	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	437	cd07489	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	235	cd07493	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	439	cd04848	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	266	cd07476	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	537	cd04842	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	597	cd07475	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	342	cd07485	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	405	cd07487	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	539	cd07474	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	257	cd07481	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	372	cd07473	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	271	cd07480	NULL
255738	38258175	Disease	p.Asp374Tyr	VAR_058532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058532	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	283	cd07484	NULL
255738	38258175	Disease	p.Arg496Trp	VAR_058534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058534	- Familial hypercholesterolemia 3 (FH3) [MIM:603776]	SWISS	1229	COG1404	NULL
5145	215274230	Disease	p.Arg102His	VAR_025460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025460	- Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	SWISS	64	smart00065	170650674,NP_000431
5145	215274230	Disease	p.Arg102His	VAR_025460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025460	- Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	SWISS	98	pfam01590	170650674,NP_000431
5145	215274230	Disease	p.Arg102Ser	VAR_025461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025461	- Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	SWISS	64	smart00065	170650674,NP_000431
5145	215274230	Disease	p.Arg102Ser	VAR_025461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025461	- Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	SWISS	98	pfam01590	170650674,NP_000431
5145	215274230	Disease	p.Ser344Arg	VAR_006049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006049	- Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	SWISS	172	pfam01590	170650674,NP_000431
5145	215274230	Disease	p.Ser344Arg	VAR_006049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006049	- Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	SWISS	226	smart00065	170650674,NP_000431
5145	215274230	Disease	p.Gln569Lys	VAR_025466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025466	- Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	SWISS	14	smart00471	170650674,NP_000431
5145	215274230	Disease	p.Gln569Lys	VAR_025466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025466	- Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	SWISS	12	cd00077	170650674,NP_000431
5145	215274230	Disease	p.Gln569Lys	VAR_025466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025466	- Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	SWISS	12	pfam00233	170650674,NP_000431
5145	215274230	Disease	p.Ser573Pro	VAR_025467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025467	- Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	SWISS	18	smart00471	170650674,NP_000431
5145	215274230	Disease	p.Ser573Pro	VAR_025467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025467	- Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	SWISS	16	cd00077	170650674,NP_000431
5145	215274230	Disease	p.Ser573Pro	VAR_025467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025467	- Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	SWISS	16	pfam00233	170650674,NP_000431
5158	226693550	Disease	p.Arg74Cys	VAR_009283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009283	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	4	smart00065	NULL
5158	226693550	Disease	p.Arg74Cys	VAR_009283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009283	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	4	pfam01590	NULL
5158	226693550	Disease	p.Tyr219His	VAR_009286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009286	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	563	smart00065	NULL
5158	226693550	Disease	p.Tyr219His	VAR_009286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009286	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	387	pfam01590	NULL
5158	226693550	Disease	p.Leu228His	VAR_009287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009287	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	572	smart00065	NULL
5158	226693550	Disease	p.His258Asn	VAR_009289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009289	- Congenital stationary night blindness autosomal dominant type 2 (CSNBAD2) [MIM:163500]	SWISS	7	smart00065	NULL
5158	226693550	Disease	p.His258Asn	VAR_009289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009289	- Congenital stationary night blindness autosomal dominant type 2 (CSNBAD2) [MIM:163500]	SWISS	7	pfam01590	NULL
5158	226693550	Disease	p.Leu527Pro	VAR_009290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009290	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	No Domain	N/A	NULL
5158	226693550	Disease	p.Ile535Asn	VAR_009291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009291	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	No Domain	N/A	NULL
5158	226693550	Disease	p.Arg552Gln	VAR_009292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009292	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	No Domain	N/A	NULL
5158	226693550	Disease	p.His557Tyr	VAR_006050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006050	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	2	cd00077	NULL
5158	226693550	Disease	p.His557Tyr	VAR_006050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006050	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	2	pfam00233	NULL
5158	226693550	Disease	p.His557Tyr	VAR_006050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006050	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	4	smart00471	NULL
5158	226693550	Disease	p.Gly576Asp	VAR_006051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006051	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	21	cd00077	NULL
5158	226693550	Disease	p.Gly576Asp	VAR_006051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006051	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	21	pfam00233	NULL
5158	226693550	Disease	p.Gly576Asp	VAR_006051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006051	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	91	smart00471	NULL
5158	226693550	Disease	p.Leu699Arg	VAR_006052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006052	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	228	cd00077	NULL
5158	226693550	Disease	p.Leu699Arg	VAR_006052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006052	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	154	pfam00233	NULL
5158	226693550	Disease	p.Leu699Arg	VAR_006052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006052	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	358	smart00471	NULL
5158	226693550	Disease	p.Leu854Arg	VAR_009293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009293	- Retinitis pigmentosa (RP) [MIM:268000]	SWISS	No Domain	N/A	NULL
5146	90111861	Disease	p.Arg29Trp	VAR_062408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062408	- Cone dystrophy type 4 (COD4) [MIM:613093]	SWISS	No Domain	N/A	157364939,NP_006195
5146	90111861	Disease	p.Tyr323Asn	VAR_062409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062409	- Cone dystrophy type 4 (COD4) [MIM:613093]	SWISS	139	smart00065	157364939,NP_006195
5146	90111861	Disease	p.Tyr323Asn	VAR_062409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062409	- Cone dystrophy type 4 (COD4) [MIM:613093]	SWISS	108	pfam01590	157364939,NP_006195
5146	90111861	Disease	p.Met455Val	VAR_062410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062410	- Cone dystrophy type 4 (COD4) [MIM:613093]	SWISS	No Domain	N/A	157364939,NP_006195
5160	129063	Disease	p.Arg10Pro	VAR_010238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010238	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	No Domain	N/A	4505685,NP_000275
5160	129063	Disease	p.Arg72Cys	VAR_004949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004949	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	9	cd02000	4505685,NP_000275
5160	129063	Disease	p.Arg72Cys	VAR_004949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004949	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	40	COG1071	4505685,NP_000275
5160	129063	Disease	p.Arg72Cys	VAR_004949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004949	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	7	pfam00676	4505685,NP_000275
5160	129063	Disease	p.His113Asp	VAR_004950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004950	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	29	cd02016	4505685,NP_000275
5160	129063	Disease	p.His113Asp	VAR_004950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004950	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	73	cd02000	4505685,NP_000275
5160	129063	Disease	p.His113Asp	VAR_004950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004950	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	91	COG1071	4505685,NP_000275
5160	129063	Disease	p.His113Asp	VAR_004950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004950	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	49	pfam00676	4505685,NP_000275
5160	129063	Disease	p.Gly162Arg	VAR_004951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004951	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	114	cd02016	4505685,NP_000275
5160	129063	Disease	p.Gly162Arg	VAR_004951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004951	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	185	cd02000	4505685,NP_000275
5160	129063	Disease	p.Gly162Arg	VAR_004951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004951	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	167	COG1071	4505685,NP_000275
5160	129063	Disease	p.Gly162Arg	VAR_004951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004951	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	110	pfam00676	4505685,NP_000275
5160	129063	Disease	p.Val167Met	VAR_004952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004952	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	119	cd02016	4505685,NP_000275
5160	129063	Disease	p.Val167Met	VAR_004952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004952	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	190	cd02000	4505685,NP_000275
5160	129063	Disease	p.Val167Met	VAR_004952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004952	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	172	COG1071	4505685,NP_000275
5160	129063	Disease	p.Val167Met	VAR_004952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004952	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	115	pfam00676	4505685,NP_000275
5160	129063	Disease	p.Ala199Thr	VAR_004953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004953	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	177	cd02016	4505685,NP_000275
5160	129063	Disease	p.Ala199Thr	VAR_004953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004953	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	256	cd02000	4505685,NP_000275
5160	129063	Disease	p.Ala199Thr	VAR_004953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004953	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	212	COG1071	4505685,NP_000275
5160	129063	Disease	p.Ala199Thr	VAR_004953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004953	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	162	pfam00676	4505685,NP_000275
5160	129063	Disease	p.Phe205Leu	VAR_004954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004954	- X-linked Leigh syndrome (X-LS) [MIM:308930]	SWISS	183	cd02016	4505685,NP_000275
5160	129063	Disease	p.Phe205Leu	VAR_004954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004954	- X-linked Leigh syndrome (X-LS) [MIM:308930]	SWISS	262	cd02000	4505685,NP_000275
5160	129063	Disease	p.Phe205Leu	VAR_004954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004954	- X-linked Leigh syndrome (X-LS) [MIM:308930]	SWISS	218	COG1071	4505685,NP_000275
5160	129063	Disease	p.Phe205Leu	VAR_004954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004954	- X-linked Leigh syndrome (X-LS) [MIM:308930]	SWISS	168	pfam00676	4505685,NP_000275
5160	129063	Disease	p.Met210Val	VAR_004955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004955	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	188	cd02016	4505685,NP_000275
5160	129063	Disease	p.Met210Val	VAR_004955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004955	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	267	cd02000	4505685,NP_000275
5160	129063	Disease	p.Met210Val	VAR_004955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004955	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	223	COG1071	4505685,NP_000275
5160	129063	Disease	p.Met210Val	VAR_004955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004955	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	173	pfam00676	4505685,NP_000275
5160	129063	Disease	p.Pro217Leu	VAR_004956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004956	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	195	cd02016	4505685,NP_000275
5160	129063	Disease	p.Pro217Leu	VAR_004956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004956	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	286	cd02000	4505685,NP_000275
5160	129063	Disease	p.Pro217Leu	VAR_004956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004956	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	230	COG1071	4505685,NP_000275
5160	129063	Disease	p.Pro217Leu	VAR_004956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004956	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	180	pfam00676	4505685,NP_000275
5160	129063	Disease	p.Thr231Ala	VAR_004957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004957	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	212	cd02016	4505685,NP_000275
5160	129063	Disease	p.Thr231Ala	VAR_004957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004957	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	300	cd02000	4505685,NP_000275
5160	129063	Disease	p.Thr231Ala	VAR_004957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004957	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	244	COG1071	4505685,NP_000275
5160	129063	Disease	p.Thr231Ala	VAR_004957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004957	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	197	pfam00676	4505685,NP_000275
5160	129063	Disease	p.Tyr243Asn	VAR_021053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021053	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	227	cd02016	4505685,NP_000275
5160	129063	Disease	p.Tyr243Asn	VAR_021053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021053	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	319	cd02000	4505685,NP_000275
5160	129063	Disease	p.Tyr243Asn	VAR_021053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021053	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	263	COG1071	4505685,NP_000275
5160	129063	Disease	p.Tyr243Asn	VAR_021053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021053	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	210	pfam00676	4505685,NP_000275
5160	129063	Disease	p.Asp258Ala	VAR_004958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004958	- X-linked Leigh syndrome (X-LS) [MIM:308930]	SWISS	242	cd02016	4505685,NP_000275
5160	129063	Disease	p.Asp258Ala	VAR_004958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004958	- X-linked Leigh syndrome (X-LS) [MIM:308930]	SWISS	348	cd02000	4505685,NP_000275
5160	129063	Disease	p.Asp258Ala	VAR_004958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004958	- X-linked Leigh syndrome (X-LS) [MIM:308930]	SWISS	282	COG1071	4505685,NP_000275
5160	129063	Disease	p.Asp258Ala	VAR_004958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004958	- X-linked Leigh syndrome (X-LS) [MIM:308930]	SWISS	227	pfam00676	4505685,NP_000275
5160	129063	Disease	p.Arg263Gly	VAR_004959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004959	rs28936081 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	247	cd02016	4505685,NP_000275
5160	129063	Disease	p.Arg263Gly	VAR_004959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004959	rs28936081 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	353	cd02000	4505685,NP_000275
5160	129063	Disease	p.Arg263Gly	VAR_004959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004959	rs28936081 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	287	COG1071	4505685,NP_000275
5160	129063	Disease	p.Arg263Gly	VAR_004959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004959	rs28936081 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	232	pfam00676	4505685,NP_000275
5160	129063	Disease	p.Arg263Gly	VAR_004959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004959	rs28936081 X-linked Leigh syndrome (X-LS) [MIM:308930]	SWISS	247	cd02016	4505685,NP_000275
5160	129063	Disease	p.Arg263Gly	VAR_004959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004959	rs28936081 X-linked Leigh syndrome (X-LS) [MIM:308930]	SWISS	353	cd02000	4505685,NP_000275
5160	129063	Disease	p.Arg263Gly	VAR_004959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004959	rs28936081 X-linked Leigh syndrome (X-LS) [MIM:308930]	SWISS	287	COG1071	4505685,NP_000275
5160	129063	Disease	p.Arg263Gly	VAR_004959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004959	rs28936081 X-linked Leigh syndrome (X-LS) [MIM:308930]	SWISS	232	pfam00676	4505685,NP_000275
5160	129063	Disease	p.Arg263Gln	VAR_004960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004960	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	247	cd02016	4505685,NP_000275
5160	129063	Disease	p.Arg263Gln	VAR_004960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004960	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	353	cd02000	4505685,NP_000275
5160	129063	Disease	p.Arg263Gln	VAR_004960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004960	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	287	COG1071	4505685,NP_000275
5160	129063	Disease	p.Arg263Gln	VAR_004960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004960	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	232	pfam00676	4505685,NP_000275
5160	129063	Disease	p.Arg288His	VAR_021055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021055	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	272	cd02016	4505685,NP_000275
5160	129063	Disease	p.Arg288His	VAR_021055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021055	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	388	cd02000	4505685,NP_000275
5160	129063	Disease	p.Arg288His	VAR_021055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021055	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	316	COG1071	4505685,NP_000275
5160	129063	Disease	p.Arg288His	VAR_021055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021055	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	257	pfam00676	4505685,NP_000275
5160	129063	Disease	p.His292Leu	VAR_004961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004961	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	276	cd02016	4505685,NP_000275
5160	129063	Disease	p.His292Leu	VAR_004961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004961	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	392	cd02000	4505685,NP_000275
5160	129063	Disease	p.His292Leu	VAR_004961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004961	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	323	COG1071	4505685,NP_000275
5160	129063	Disease	p.His292Leu	VAR_004961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004961	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	261	pfam00676	4505685,NP_000275
5160	129063	Disease	p.Arg302Cys	VAR_004962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004962	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	409	cd02000	4505685,NP_000275
5160	129063	Disease	p.Arg302Cys	VAR_004962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004962	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	335	COG1071	4505685,NP_000275
5160	129063	Disease	p.Arg302Cys	VAR_004962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004962	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	272	pfam00676	4505685,NP_000275
5160	129063	Disease	p.Arg302His	VAR_004963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004963	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	409	cd02000	4505685,NP_000275
5160	129063	Disease	p.Arg302His	VAR_004963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004963	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	335	COG1071	4505685,NP_000275
5160	129063	Disease	p.Arg302His	VAR_004963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004963	- Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	272	pfam00676	4505685,NP_000275
5160	129063	Disease	p.Asp315Asn	VAR_021056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021056	rs28935187 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	429	cd02000	4505685,NP_000275
5160	129063	Disease	p.Asp315Asn	VAR_021056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021056	rs28935187 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	349	COG1071	4505685,NP_000275
5160	129063	Disease	p.Asp315Asn	VAR_021056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021056	rs28935187 Pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	285	pfam00676	4505685,NP_000275
5160	129063	Disease	p.Arg378His	VAR_004966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004966	- X-linked Leigh syndrome (X-LS) [MIM:308930]	SWISS	427	COG1071	4505685,NP_000275
5162	134044259	Disease	p.Tyr132Cys	VAR_030954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030954	rs28935769 Pyruvate dehydrogenase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	101	COG3958	156564403,NP_000916
5162	134044259	Disease	p.Tyr132Cys	VAR_030954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030954	rs28935769 Pyruvate dehydrogenase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	114	COG0022	156564403,NP_000916
5162	134044259	Disease	p.Tyr132Cys	VAR_030954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030954	rs28935769 Pyruvate dehydrogenase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	415	smart00861	156564403,NP_000916
5162	134044259	Disease	p.Tyr132Cys	VAR_030954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030954	rs28935769 Pyruvate dehydrogenase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	106	cd06586	156564403,NP_000916
5162	134044259	Disease	p.Tyr132Cys	VAR_030954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030954	rs28935769 Pyruvate dehydrogenase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	111	cd07036	156564403,NP_000916
5162	134044259	Disease	p.Tyr132Cys	VAR_030954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030954	rs28935769 Pyruvate dehydrogenase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	127	cd07033	156564403,NP_000916
5162	134044259	Disease	p.Tyr132Cys	VAR_030954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030954	rs28935769 Pyruvate dehydrogenase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	138	pfam02779	156564403,NP_000916
5162	134044259	Disease	p.Pro344Ser	VAR_021058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021058	rs28933391 Pyruvate dehydrogenase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	307_G	COG3958	156564403,NP_000916
5162	134044259	Disease	p.Pro344Ser	VAR_021058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021058	rs28933391 Pyruvate dehydrogenase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	349	COG0022	156564403,NP_000916
5162	134044259	Disease	p.Pro344Ser	VAR_021058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021058	rs28933391 Pyruvate dehydrogenase E1 component deficiency (PDHE1 deficiency) [MIM:312170]	SWISS	139	pfam02780	156564403,NP_000916
23590	74744657	Disease	p.Asp308Glu	VAR_034879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034879	- Coenzyme Q10 deficiency [MIM:607426]	SWISS	212	pfam00348	50659086,NP_055132
23590	74744657	Disease	p.Asp308Glu	VAR_034879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034879	- Coenzyme Q10 deficiency [MIM:607426]	SWISS	380	cd00867	50659086,NP_055132
23590	74744657	Disease	p.Asp308Glu	VAR_034879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034879	- Coenzyme Q10 deficiency [MIM:607426]	SWISS	381	cd00385	50659086,NP_055132
23590	74744657	Disease	p.Asp308Glu	VAR_034879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034879	- Coenzyme Q10 deficiency [MIM:607426]	SWISS	376	cd00685	50659086,NP_055132
23590	74744657	Disease	p.Asp308Glu	VAR_034879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034879	- Coenzyme Q10 deficiency [MIM:607426]	SWISS	386	COG0142	50659086,NP_055132
57107	73620006	Disease	p.Ser382Leu	VAR_055398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055398	- Coenzyme Q10 deficiency [MIM:607426]	SWISS	499	COG0142	169808399,NP_065114
57107	73620006	Disease	p.Ser382Leu	VAR_055398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055398	- Coenzyme Q10 deficiency [MIM:607426]	SWISS	487	cd00867	169808399,NP_065114
57107	73620006	Disease	p.Ser382Leu	VAR_055398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055398	- Coenzyme Q10 deficiency [MIM:607426]	SWISS	488	cd00385	169808399,NP_065114
57107	73620006	Disease	p.Ser382Leu	VAR_055398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055398	- Coenzyme Q10 deficiency [MIM:607426]	SWISS	484	cd00685	169808399,NP_065114
3651	1708540	Disease	p.Cys18Arg	VAR_009309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009309	- Maturity-onset diabetes of the young type 4 (MODY4) [MIM:606392]	SWISS	No Domain	N/A	4557673,NP_000200
3651	1708540	Disease	p.Gln59Leu	VAR_009310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009310	- Maturity-onset diabetes of the young type 4 (MODY4) [MIM:606392]	SWISS	No Domain	N/A	4557673,NP_000200
3651	1708540	Disease	p.Asp76Asn	VAR_009311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009311	- Maturity-onset diabetes of the young type 4 (MODY4) [MIM:606392]	SWISS	No Domain	N/A	4557673,NP_000200
3651	1708540	Disease	p.Arg197His	VAR_009312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009312	- Maturity-onset diabetes of the young type 4 (MODY4) [MIM:606392]	SWISS	83	cd00086	4557673,NP_000200
3651	1708540	Disease	p.Arg197His	VAR_009312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009312	- Maturity-onset diabetes of the young type 4 (MODY4) [MIM:606392]	SWISS	61	pfam00046	4557673,NP_000200
3651	1708540	Disease	p.Arg197His	VAR_009312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009312	- Maturity-onset diabetes of the young type 4 (MODY4) [MIM:606392]	SWISS	91	smart00389	4557673,NP_000200
3651	1708540	Disease	p.Arg197His	VAR_009312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009312	- Maturity-onset diabetes of the young type 4 (MODY4) [MIM:606392]	SWISS	104	COG5576	4557673,NP_000200
56652	74752111	Disease	p.Trp315Leu	VAR_023648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023648	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]	SWISS	101	cd01029	39725942,NP_068602
56652	74752111	Disease	p.Lys319Glu	VAR_023649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023649	- Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]	SWISS	105	cd01029	39725942,NP_068602
56652	74752111	Disease	p.Lys319Thr	VAR_023650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023650	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]	SWISS	105	cd01029	39725942,NP_068602
56652	74752111	Disease	p.Pro335Leu	VAR_023652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023652	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]	SWISS	No Domain	N/A	39725942,NP_068602
56652	74752111	Disease	p.Arg354Pro	VAR_023653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023653	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]	SWISS	No Domain	N/A	39725942,NP_068602
56652	74752111	Disease	p.Ala359Thr	VAR_023654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023654	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]	SWISS	No Domain	N/A	39725942,NP_068602
56652	74752111	Disease	p.Ile367Thr	VAR_023655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023655	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]	SWISS	No Domain	N/A	39725942,NP_068602
56652	74752111	Disease	p.Val368Ile	VAR_023656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023656	rs17113613 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]	SWISS	No Domain	N/A	39725942,NP_068602
56652	74752111	Disease	p.Ser369Pro	VAR_023657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023657	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]	SWISS	No Domain	N/A	39725942,NP_068602
56652	74752111	Disease	p.Ser369Tyr	VAR_023658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023658	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]	SWISS	No Domain	N/A	39725942,NP_068602
56652	74752111	Disease	p.Arg374Gln	VAR_023659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023659	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]	SWISS	No Domain	N/A	39725942,NP_068602
56652	74752111	Disease	p.Leu381Pro	VAR_023660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023660	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]	SWISS	8	cd01122	39725942,NP_068602
56652	74752111	Disease	p.Thr457Ile	VAR_039045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039045	- Hepatocerebral mitochondrial DNA deletions syndrome autosomal recessive (ARHCMDS) [MIM:251880]	SWISS	87	cd01122	39725942,NP_068602
56652	74752111	Disease	p.Thr457Ile	VAR_039045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039045	- Hepatocerebral mitochondrial DNA deletions syndrome autosomal recessive (ARHCMDS) [MIM:251880]	SWISS	87	pfam06745	39725942,NP_068602
56652	74752111	Disease	p.Thr457Ile	VAR_039045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039045	- Hepatocerebral mitochondrial DNA deletions syndrome autosomal recessive (ARHCMDS) [MIM:251880]	SWISS	92	cd00984	39725942,NP_068602
56652	74752111	Disease	p.Trp474Cys	VAR_023661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023661	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]	SWISS	133	cd01122	39725942,NP_068602
56652	74752111	Disease	p.Trp474Cys	VAR_023661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023661	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]	SWISS	102	pfam06745	39725942,NP_068602
56652	74752111	Disease	p.Trp474Cys	VAR_023661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023661	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]	SWISS	114	cd00984	39725942,NP_068602
56652	74752111	Disease	p.Ala475Pro	VAR_023662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023662	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]	SWISS	134	cd01122	39725942,NP_068602
56652	74752111	Disease	p.Ala475Pro	VAR_023662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023662	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]	SWISS	103	pfam06745	39725942,NP_068602
56652	74752111	Disease	p.Ala475Pro	VAR_023662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023662	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]	SWISS	115	cd00984	39725942,NP_068602
56652	74752111	Disease	p.Tyr508Cys	VAR_043797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043797	- Spinocerebellar ataxia infantile-onset (IOSCA) [MIM:271245]	SWISS	169	cd01122	39725942,NP_068602
56652	74752111	Disease	p.Tyr508Cys	VAR_043797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043797	- Spinocerebellar ataxia infantile-onset (IOSCA) [MIM:271245]	SWISS	145	pfam06745	39725942,NP_068602
56652	74752111	Disease	p.Tyr508Cys	VAR_043797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043797	- Spinocerebellar ataxia infantile-onset (IOSCA) [MIM:271245]	SWISS	143	cd00984	39725942,NP_068602
5184	50403718	Disease	p.Arg184Gln	VAR_011614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011614	- Prolidase deficiency (PD) [MIM:170100]	SWISS	4	COG0024	149589008,NP_000276
5184	50403718	Disease	p.Arg184Gln	VAR_011614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011614	- Prolidase deficiency (PD) [MIM:170100]	SWISS	235	COG0006	149589008,NP_000276
5184	50403718	Disease	p.Asp276Asn	VAR_004404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004404	- Prolidase deficiency (PD) [MIM:170100]	SWISS	123	cd01085	149589008,NP_000276
5184	50403718	Disease	p.Asp276Asn	VAR_004404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004404	- Prolidase deficiency (PD) [MIM:170100]	SWISS	137	COG0024	149589008,NP_000276
5184	50403718	Disease	p.Asp276Asn	VAR_004404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004404	- Prolidase deficiency (PD) [MIM:170100]	SWISS	355	COG0006	149589008,NP_000276
5184	50403718	Disease	p.Asp276Asn	VAR_004404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004404	- Prolidase deficiency (PD) [MIM:170100]	SWISS	103	cd01086	149589008,NP_000276
5184	50403718	Disease	p.Asp276Asn	VAR_004404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004404	- Prolidase deficiency (PD) [MIM:170100]	SWISS	93	cd01087	149589008,NP_000276
5184	50403718	Disease	p.Asp276Asn	VAR_004404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004404	- Prolidase deficiency (PD) [MIM:170100]	SWISS	93	cd01092	149589008,NP_000276
5184	50403718	Disease	p.Asp276Asn	VAR_004404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004404	- Prolidase deficiency (PD) [MIM:170100]	SWISS	153	cd01066	149589008,NP_000276
5184	50403718	Disease	p.Asp276Asn	VAR_004404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004404	- Prolidase deficiency (PD) [MIM:170100]	SWISS	337	pfam00557	149589008,NP_000276
5184	50403718	Disease	p.Gly278Asp	VAR_011615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011615	- Prolidase deficiency (PD) [MIM:170100]	SWISS	125	cd01085	149589008,NP_000276
5184	50403718	Disease	p.Gly278Asp	VAR_011615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011615	- Prolidase deficiency (PD) [MIM:170100]	SWISS	139	COG0024	149589008,NP_000276
5184	50403718	Disease	p.Gly278Asp	VAR_011615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011615	- Prolidase deficiency (PD) [MIM:170100]	SWISS	357	COG0006	149589008,NP_000276
5184	50403718	Disease	p.Gly278Asp	VAR_011615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011615	- Prolidase deficiency (PD) [MIM:170100]	SWISS	105	cd01086	149589008,NP_000276
5184	50403718	Disease	p.Gly278Asp	VAR_011615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011615	- Prolidase deficiency (PD) [MIM:170100]	SWISS	95	cd01087	149589008,NP_000276
5184	50403718	Disease	p.Gly278Asp	VAR_011615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011615	- Prolidase deficiency (PD) [MIM:170100]	SWISS	95	cd01092	149589008,NP_000276
5184	50403718	Disease	p.Gly278Asp	VAR_011615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011615	- Prolidase deficiency (PD) [MIM:170100]	SWISS	155	cd01066	149589008,NP_000276
5184	50403718	Disease	p.Gly278Asp	VAR_011615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011615	- Prolidase deficiency (PD) [MIM:170100]	SWISS	339	pfam00557	149589008,NP_000276
5184	50403718	Disease	p.Gly448Arg	VAR_004405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004405	- Prolidase deficiency (PD) [MIM:170100]	SWISS	269	cd01085	149589008,NP_000276
5184	50403718	Disease	p.Gly448Arg	VAR_004405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004405	- Prolidase deficiency (PD) [MIM:170100]	SWISS	506	COG0024	149589008,NP_000276
5184	50403718	Disease	p.Gly448Arg	VAR_004405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004405	- Prolidase deficiency (PD) [MIM:170100]	SWISS	564	COG0006	149589008,NP_000276
5184	50403718	Disease	p.Gly448Arg	VAR_004405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004405	- Prolidase deficiency (PD) [MIM:170100]	SWISS	414_G	cd01086	149589008,NP_000276
5184	50403718	Disease	p.Gly448Arg	VAR_004405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004405	- Prolidase deficiency (PD) [MIM:170100]	SWISS	328	cd01087	149589008,NP_000276
5184	50403718	Disease	p.Gly448Arg	VAR_004405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004405	- Prolidase deficiency (PD) [MIM:170100]	SWISS	228	cd01092	149589008,NP_000276
5184	50403718	Disease	p.Gly448Arg	VAR_004405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004405	- Prolidase deficiency (PD) [MIM:170100]	SWISS	480	cd01066	149589008,NP_000276
5184	50403718	Disease	p.Gly448Arg	VAR_004405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004405	- Prolidase deficiency (PD) [MIM:170100]	SWISS	1090	pfam00557	149589008,NP_000276
8864	14917029	Disease	p.Ser662Gly	VAR_029080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029080	- Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]	SWISS	No Domain	N/A	12707562,NP_073728
5189	8134613	Disease	p.Leu590Arg	VAR_058376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058376	- Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136]	SWISS	15	COG0464	4505725,NP_000457
5189	8134613	Disease	p.Leu590Arg	VAR_058376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058376	- Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136]	SWISS	17	cd00009	4505725,NP_000457
5189	8134613	Disease	p.Gly593Arg	VAR_058377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058377	- Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136]	SWISS	3	smart00382	4505725,NP_000457
5189	8134613	Disease	p.Gly593Arg	VAR_058377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058377	- Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136]	SWISS	18	COG0464	4505725,NP_000457
5189	8134613	Disease	p.Gly593Arg	VAR_058377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058377	- Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136]	SWISS	84	cd00009	4505725,NP_000457
5189	8134613	Disease	p.Leu664Pro	VAR_008876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008876	rs28939678 Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	139	pfam00004	4505725,NP_000457
5189	8134613	Disease	p.Leu664Pro	VAR_008876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008876	rs28939678 Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	126	pfam05729	4505725,NP_000457
5189	8134613	Disease	p.Leu664Pro	VAR_008876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008876	rs28939678 Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	317	smart00382	4505725,NP_000457
5189	8134613	Disease	p.Leu664Pro	VAR_008876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008876	rs28939678 Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	103	COG0464	4505725,NP_000457
5189	8134613	Disease	p.Leu664Pro	VAR_008876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008876	rs28939678 Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	374	cd00009	4505725,NP_000457
5189	8134613	Disease	p.Leu664Pro	VAR_008876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008876	rs28939678 Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	7	COG0465	4505725,NP_000457
5189	8134613	Disease	p.Arg798Gly	VAR_058378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058378	- Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136]	SWISS	6	COG1223	4505725,NP_000457
5189	8134613	Disease	p.Arg798Gly	VAR_058378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058378	- Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136]	SWISS	298	COG0464	4505725,NP_000457
5189	8134613	Disease	p.Arg798Gly	VAR_058378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058378	- Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136]	SWISS	219	COG0465	4505725,NP_000457
5189	8134613	Disease	p.Arg798Gly	VAR_058378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058378	- Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136]	SWISS	96	COG1222	4505725,NP_000457
5189	8134613	Disease	p.Gly843Asp	VAR_008877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008877	- Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	116	COG1223	4505725,NP_000457
5189	8134613	Disease	p.Gly843Asp	VAR_008877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008877	- Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	433	COG0464	4505725,NP_000457
5189	8134613	Disease	p.Gly843Asp	VAR_008877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008877	- Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	267	COG0465	4505725,NP_000457
5189	8134613	Disease	p.Gly843Asp	VAR_008877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008877	- Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	202	COG1222	4505725,NP_000457
5189	8134613	Disease	p.Gly843Asp	VAR_008877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008877	- Infantile Refsum disease (IRD) [MIM:266510]	SWISS	116	COG1223	4505725,NP_000457
5189	8134613	Disease	p.Gly843Asp	VAR_008877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008877	- Infantile Refsum disease (IRD) [MIM:266510]	SWISS	433	COG0464	4505725,NP_000457
5189	8134613	Disease	p.Gly843Asp	VAR_008877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008877	- Infantile Refsum disease (IRD) [MIM:266510]	SWISS	267	COG0465	4505725,NP_000457
5189	8134613	Disease	p.Gly843Asp	VAR_008877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008877	- Infantile Refsum disease (IRD) [MIM:266510]	SWISS	202	COG1222	4505725,NP_000457
5189	8134613	Disease	p.Ala1237Glu	VAR_058380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058380	- Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136]	SWISS	No Domain	N/A	4505725,NP_000457
5192	3914299	Disease	p.His290Gln	VAR_007805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007805	- Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	44	cd00162	4505715,NP_002608
5192	3914299	Disease	p.His290Gln	VAR_007805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007805	- Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	43	smart00184	4505715,NP_002608
5192	3914299	Disease	p.His290Gln	VAR_007805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007805	- Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	34	pfam00097	4505715,NP_002608
5193	3024371	Disease	p.Arg34Ser	VAR_058389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058389	- Peroxisome biogenesis disorder complementation group 3 (PBD-CG3) [MIM:601758]	SWISS	9	pfam04757	4505721,NP_000277
5194	3914319	Disease	p.Ile326Thr	VAR_009306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009306	- Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	104	cd00174	4505723,NP_002609
5194	3914319	Disease	p.Ile326Thr	VAR_009306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009306	- Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	54	pfam00018	4505723,NP_002609
5194	3914319	Disease	p.Ile326Thr	VAR_009306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009306	- Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	134	smart00326	4505723,NP_002609
5828	281185478	Disease	p.Glu55Lys	VAR_011389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011389	- Infantile Refsum disease (IRD) [MIM:266510]	SWISS	66	pfam04757	NULL
55670	47606028	Disease	p.Leu45Pro	VAR_018647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018647	- Infantile Refsum disease (IRD) [MIM:266510]	SWISS	45	pfam07163	189083737,NP_001121121|8923625,NP_060399
55670	47606028	Disease	p.Gly89Arg	VAR_018648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018648	- Zellweger syndrome (ZWS) [MIM:214100]	SWISS	90	pfam07163	189083737,NP_001121121|8923625,NP_060399
55670	47606028	Disease	p.Arg98Trp	VAR_018649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018649	- Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	99	pfam07163	189083737,NP_001121121|8923625,NP_060399
8504	3914303	Disease	p.Gly138Glu	VAR_009304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009304	- Zellweger syndrome (ZwS) [MIM:214100]	SWISS	468	pfam04882	4505727,NP_003621
5830	119364633	Disease	p.Asn526Lys	VAR_007543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007543	- Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	773	COG0457	196259776,NP_001124498|196259774,NP_001124497
5830	119364633	Disease	p.Asn526Lys	VAR_007543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007543	- Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	5	smart00028	196259776,NP_001124498|196259774,NP_001124497
5830	119364633	Disease	p.Asn526Lys	VAR_007543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007543	- Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	5	pfam07719	196259776,NP_001124498|196259774,NP_001124497
5830	119364633	Disease	p.Asn526Lys	VAR_007543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007543	- Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	5	pfam00515	196259776,NP_001124498|196259774,NP_001124497
5830	119364633	Disease	p.Asn526Lys	VAR_007543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007543	- Adrenoleukodystrophy neonatal (NALD) [MIM:202370]	SWISS	66	cd00189	196259776,NP_001124498|196259774,NP_001124497
5830	119364633	Disease	p.Ser600Trp	VAR_031328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031328	- Infantile Refsum disease (IRD) [MIM:266510]	SWISS	No Domain	N/A	196259776,NP_001124498|196259774,NP_001124497
5190	12644408	Disease	p.Pro274Leu	VAR_058382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058382	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	No Domain	N/A	194018488,NP_000278
5190	12644408	Disease	p.Arg812Gln	VAR_007918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007918	- Zellweger syndrome (ZWS) [MIM:214100]	SWISS	235	COG1223	194018488,NP_000278
5190	12644408	Disease	p.Arg812Gln	VAR_007918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007918	- Zellweger syndrome (ZWS) [MIM:214100]	SWISS	586	COG0464	194018488,NP_000278
5190	12644408	Disease	p.Arg812Gln	VAR_007918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007918	- Zellweger syndrome (ZWS) [MIM:214100]	SWISS	146	pfam00004	194018488,NP_000278
5190	12644408	Disease	p.Arg812Gln	VAR_007918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007918	- Zellweger syndrome (ZWS) [MIM:214100]	SWISS	377	COG0465	194018488,NP_000278
5190	12644408	Disease	p.Arg812Gln	VAR_007918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007918	- Zellweger syndrome (ZWS) [MIM:214100]	SWISS	308	COG1222	194018488,NP_000278
5190	12644408	Disease	p.Arg812Gln	VAR_007918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007918	- Zellweger syndrome (ZWS) [MIM:214100]	SWISS	329	smart00382	194018488,NP_000278
5190	12644408	Disease	p.Arg812Gln	VAR_007918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007918	- Zellweger syndrome (ZWS) [MIM:214100]	SWISS	381	cd00009	194018488,NP_000278
5190	12644408	Disease	p.Arg812Trp	VAR_007919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007919	- Zellweger syndrome (ZWS) [MIM:214100]	SWISS	235	COG1223	194018488,NP_000278
5190	12644408	Disease	p.Arg812Trp	VAR_007919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007919	- Zellweger syndrome (ZWS) [MIM:214100]	SWISS	586	COG0464	194018488,NP_000278
5190	12644408	Disease	p.Arg812Trp	VAR_007919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007919	- Zellweger syndrome (ZWS) [MIM:214100]	SWISS	146	pfam00004	194018488,NP_000278
5190	12644408	Disease	p.Arg812Trp	VAR_007919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007919	- Zellweger syndrome (ZWS) [MIM:214100]	SWISS	377	COG0465	194018488,NP_000278
5190	12644408	Disease	p.Arg812Trp	VAR_007919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007919	- Zellweger syndrome (ZWS) [MIM:214100]	SWISS	308	COG1222	194018488,NP_000278
5190	12644408	Disease	p.Arg812Trp	VAR_007919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007919	- Zellweger syndrome (ZWS) [MIM:214100]	SWISS	329	smart00382	194018488,NP_000278
5190	12644408	Disease	p.Arg812Trp	VAR_007919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007919	- Zellweger syndrome (ZWS) [MIM:214100]	SWISS	381	cd00009	194018488,NP_000278
5190	12644408	Disease	p.Asn849Thr	VAR_058384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058384	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	272	COG1223	194018488,NP_000278
5190	12644408	Disease	p.Asn849Thr	VAR_058384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058384	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	1072	COG0464	194018488,NP_000278
5190	12644408	Disease	p.Asn849Thr	VAR_058384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058384	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	218	pfam00004	194018488,NP_000278
5190	12644408	Disease	p.Asn849Thr	VAR_058384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058384	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	421	COG0465	194018488,NP_000278
5190	12644408	Disease	p.Asn849Thr	VAR_058384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058384	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	348	COG1222	194018488,NP_000278
5190	12644408	Disease	p.Asn849Thr	VAR_058384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058384	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	612	smart00382	194018488,NP_000278
5190	12644408	Disease	p.Asn849Thr	VAR_058384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058384	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	455	cd00009	194018488,NP_000278
5190	12644408	Disease	p.Arg860Gln	VAR_058385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058385	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	282	COG1223	194018488,NP_000278
5190	12644408	Disease	p.Arg860Gln	VAR_058385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058385	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	1091	COG0464	194018488,NP_000278
5190	12644408	Disease	p.Arg860Gln	VAR_058385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058385	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	231	pfam00004	194018488,NP_000278
5190	12644408	Disease	p.Arg860Gln	VAR_058385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058385	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	432	COG0465	194018488,NP_000278
5190	12644408	Disease	p.Arg860Gln	VAR_058385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058385	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	359	COG1222	194018488,NP_000278
5190	12644408	Disease	p.Arg860Gln	VAR_058385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058385	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	656	smart00382	194018488,NP_000278
5190	12644408	Disease	p.Arg860Gln	VAR_058385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058385	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	509	cd00009	194018488,NP_000278
5190	12644408	Disease	p.Arg860Trp	VAR_058386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058386	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	282	COG1223	194018488,NP_000278
5190	12644408	Disease	p.Arg860Trp	VAR_058386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058386	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	1091	COG0464	194018488,NP_000278
5190	12644408	Disease	p.Arg860Trp	VAR_058386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058386	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	231	pfam00004	194018488,NP_000278
5190	12644408	Disease	p.Arg860Trp	VAR_058386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058386	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	432	COG0465	194018488,NP_000278
5190	12644408	Disease	p.Arg860Trp	VAR_058386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058386	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	359	COG1222	194018488,NP_000278
5190	12644408	Disease	p.Arg860Trp	VAR_058386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058386	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	656	smart00382	194018488,NP_000278
5190	12644408	Disease	p.Arg860Trp	VAR_058386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058386	- Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]	SWISS	509	cd00009	194018488,NP_000278
5191	3122596	Disease	p.Thr14Pro	VAR_016810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016810	- Refsum disease (RD) [MIM:266500]	SWISS	7	cd00200	4505731,NP_000279
5191	3122596	Disease	p.Gly217Arg	VAR_007725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007725	- Rhizomelic chondrodysplasia punctata type 1 (RCDP1) [MIM:215100]	SWISS	54	pfam00400	4505731,NP_000279
5191	3122596	Disease	p.Gly217Arg	VAR_007725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007725	- Rhizomelic chondrodysplasia punctata type 1 (RCDP1) [MIM:215100]	SWISS	574	cd00200	4505731,NP_000279
5191	3122596	Disease	p.Ala218Val	VAR_007726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007726	- Rhizomelic chondrodysplasia punctata type 1 (RCDP1) [MIM:215100]	SWISS	55	pfam00400	4505731,NP_000279
5191	3122596	Disease	p.Ala218Val	VAR_007726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007726	- Rhizomelic chondrodysplasia punctata type 1 (RCDP1) [MIM:215100]	SWISS	575	cd00200	4505731,NP_000279
5213	125126	Disease	p.Arg39Leu	VAR_006063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006063	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	24	pfam00365	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Leu	VAR_006063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006063	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	24	cd00763	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Leu	VAR_006063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006063	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	24	cd00363	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Leu	VAR_006063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006063	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	27	cd00764	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Leu	VAR_006063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006063	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	26	COG0205	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Pro	VAR_006064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006064	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	24	pfam00365	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Pro	VAR_006064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006064	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	24	cd00763	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Pro	VAR_006064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006064	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	24	cd00363	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Pro	VAR_006064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006064	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	27	cd00764	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg39Pro	VAR_006064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006064	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	26	COG0205	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg100Gln	VAR_006065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006065	rs2228500 Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	86	pfam00365	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg100Gln	VAR_006065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006065	rs2228500 Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	83	cd00763	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg100Gln	VAR_006065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006065	rs2228500 Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	89	cd00363	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg100Gln	VAR_006065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006065	rs2228500 Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	89	cd00764	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg100Gln	VAR_006065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006065	rs2228500 Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	115	COG0205	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Gly209Asp	VAR_006066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006066	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	195	pfam00365	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Gly209Asp	VAR_006066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006066	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	170	cd00763	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Gly209Asp	VAR_006066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006066	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	201	cd00363	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Gly209Asp	VAR_006066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006066	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	198	cd00764	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Gly209Asp	VAR_006066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006066	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	304	COG0205	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Asp543Ala	VAR_006067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006067	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	140	cd00763	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Asp543Ala	VAR_006067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006067	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	165	pfam00365	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Asp543Ala	VAR_006067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006067	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	170	cd00363	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Asp543Ala	VAR_006067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006067	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	270	COG0205	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Asp543Ala	VAR_006067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006067	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	549	cd00764	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Trp686Cys	VAR_006068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006068	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	275_G	cd00763	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Trp686Cys	VAR_006068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006068	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	310	pfam00365	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Trp686Cys	VAR_006068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006068	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	405	cd00363	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Trp686Cys	VAR_006068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006068	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	511_G	COG0205	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Trp686Cys	VAR_006068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006068	- Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	696	cd00764	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg696His	VAR_006069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006069	rs41291971 Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	279	cd00763	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg696His	VAR_006069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006069	rs41291971 Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	415	cd00363	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg696His	VAR_006069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006069	rs41291971 Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	511_G	COG0205	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5213	125126	Disease	p.Arg696His	VAR_006069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006069	rs41291971 Glycogen storage disease type 7 (GSD7) [MIM:232800]	SWISS	706	cd00764	4505749,NP_000280|266453768,NP_001160160|266453748,NP_001160159
5224	130353	Disease	p.Glu89Ala	VAR_006088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006088	- Glycogen storage disease type 10 (GSD10) [MIM:261670]	SWISS	148	COG0588	50593010,NP_000281
5224	130353	Disease	p.Glu89Ala	VAR_006088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006088	- Glycogen storage disease type 10 (GSD10) [MIM:261670]	SWISS	117	COG0406	50593010,NP_000281
5224	130353	Disease	p.Glu89Ala	VAR_006088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006088	- Glycogen storage disease type 10 (GSD10) [MIM:261670]	SWISS	181	cd07067	50593010,NP_000281
5224	130353	Disease	p.Glu89Ala	VAR_006088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006088	- Glycogen storage disease type 10 (GSD10) [MIM:261670]	SWISS	293	cd07040	50593010,NP_000281
5224	130353	Disease	p.Glu89Ala	VAR_006088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006088	- Glycogen storage disease type 10 (GSD10) [MIM:261670]	SWISS	309	pfam00300	50593010,NP_000281
5224	130353	Disease	p.Glu89Ala	VAR_006088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006088	- Glycogen storage disease type 10 (GSD10) [MIM:261670]	SWISS	632	smart00855	50593010,NP_000281
5224	130353	Disease	p.Arg90Trp	VAR_006089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006089	- Glycogen storage disease type 10 (GSD10) [MIM:261670]	SWISS	149	COG0588	50593010,NP_000281
5224	130353	Disease	p.Arg90Trp	VAR_006089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006089	- Glycogen storage disease type 10 (GSD10) [MIM:261670]	SWISS	118	COG0406	50593010,NP_000281
5224	130353	Disease	p.Arg90Trp	VAR_006089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006089	- Glycogen storage disease type 10 (GSD10) [MIM:261670]	SWISS	182	cd07067	50593010,NP_000281
5224	130353	Disease	p.Arg90Trp	VAR_006089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006089	- Glycogen storage disease type 10 (GSD10) [MIM:261670]	SWISS	294	cd07040	50593010,NP_000281
5224	130353	Disease	p.Arg90Trp	VAR_006089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006089	- Glycogen storage disease type 10 (GSD10) [MIM:261670]	SWISS	310	pfam00300	50593010,NP_000281
5224	130353	Disease	p.Arg90Trp	VAR_006089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006089	- Glycogen storage disease type 10 (GSD10) [MIM:261670]	SWISS	634	smart00855	50593010,NP_000281
5224	130353	Disease	p.Gly97Asp	VAR_013103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013103	- Glycogen storage disease type 10 (GSD10) [MIM:261670]	SWISS	156	COG0588	50593010,NP_000281
5224	130353	Disease	p.Gly97Asp	VAR_013103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013103	- Glycogen storage disease type 10 (GSD10) [MIM:261670]	SWISS	128	COG0406	50593010,NP_000281
5224	130353	Disease	p.Gly97Asp	VAR_013103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013103	- Glycogen storage disease type 10 (GSD10) [MIM:261670]	SWISS	189	cd07067	50593010,NP_000281
5224	130353	Disease	p.Gly97Asp	VAR_013103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013103	- Glycogen storage disease type 10 (GSD10) [MIM:261670]	SWISS	301	cd07040	50593010,NP_000281
5224	130353	Disease	p.Gly97Asp	VAR_013103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013103	- Glycogen storage disease type 10 (GSD10) [MIM:261670]	SWISS	328	pfam00300	50593010,NP_000281
5224	130353	Disease	p.Gly97Asp	VAR_013103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013103	- Glycogen storage disease type 10 (GSD10) [MIM:261670]	SWISS	642	smart00855	50593010,NP_000281
5230	52788229	Disease	p.Leu88Pro	VAR_006076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006076	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	204	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Leu88Pro	VAR_006076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006076	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	109	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Leu88Pro	VAR_006076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006076	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	178	cd00318	4505763,NP_000282
5230	52788229	Disease	p.Gly158Val	VAR_006077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006077	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	315	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Gly158Val	VAR_006077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006077	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	185	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Gly158Val	VAR_006077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006077	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	252	cd00318	4505763,NP_000282
5230	52788229	Disease	p.Asp164Val	VAR_006078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006078	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	324	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Asp164Val	VAR_006078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006078	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	194	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Asp164Val	VAR_006078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006078	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	258	cd00318	4505763,NP_000282
5230	52788229	Disease	p.Arg206Pro	VAR_006080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006080	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	377	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Arg206Pro	VAR_006080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006080	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	241	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Arg206Pro	VAR_006080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006080	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	302	cd00318	4505763,NP_000282
5230	52788229	Disease	p.Glu252Ala	VAR_006081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006081	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	444	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Glu252Ala	VAR_006081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006081	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	289	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Glu252Ala	VAR_006081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006081	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	350	cd00318	4505763,NP_000282
5230	52788229	Disease	p.Val266Met	VAR_006082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006082	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	500	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Val266Met	VAR_006082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006082	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	312	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Val266Met	VAR_006082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006082	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	371	cd00318	4505763,NP_000282
5230	52788229	Disease	p.Asp285Val	VAR_006084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006084	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	526	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Asp285Val	VAR_006084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006084	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	331	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Asp285Val	VAR_006084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006084	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	390	cd00318	4505763,NP_000282
5230	52788229	Disease	p.Asp315Asn	VAR_006085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006085	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	580	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Asp315Asn	VAR_006085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006085	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	371	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Asp315Asn	VAR_006085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006085	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	420	cd00318	4505763,NP_000282
5230	52788229	Disease	p.Cys316Arg	VAR_006086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006086	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	581	pfam00162	4505763,NP_000282
5230	52788229	Disease	p.Cys316Arg	VAR_006086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006086	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	372	COG0126	4505763,NP_000282
5230	52788229	Disease	p.Cys316Arg	VAR_006086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006086	- Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]	SWISS	421	cd00318	4505763,NP_000282
5236	585670	Disease	p.Thr115Ala	VAR_062280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062280	- Glycogen storage disease type 14 (GSD14) [MIM:612934]	SWISS	139	cd05801	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	VAR_062280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062280	- Glycogen storage disease type 14 (GSD14) [MIM:612934]	SWISS	126	cd03089	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	VAR_062280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062280	- Glycogen storage disease type 14 (GSD14) [MIM:612934]	SWISS	109	cd05800	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	VAR_062280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062280	- Glycogen storage disease type 14 (GSD14) [MIM:612934]	SWISS	124	pfam02878	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	VAR_062280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062280	- Glycogen storage disease type 14 (GSD14) [MIM:612934]	SWISS	133	COG0033	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	VAR_062280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062280	- Glycogen storage disease type 14 (GSD14) [MIM:612934]	SWISS	187	cd05799	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	VAR_062280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062280	- Glycogen storage disease type 14 (GSD14) [MIM:612934]	SWISS	100	cd03087	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	VAR_062280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062280	- Glycogen storage disease type 14 (GSD14) [MIM:612934]	SWISS	106	cd05802	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	VAR_062280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062280	- Glycogen storage disease type 14 (GSD14) [MIM:612934]	SWISS	172	COG1109	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	VAR_062280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062280	- Glycogen storage disease type 14 (GSD14) [MIM:612934]	SWISS	108	cd03084	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	VAR_062280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062280	- Glycogen storage disease type 14 (GSD14) [MIM:612934]	SWISS	107	cd05803	21361621,NP_002624
5236	585670	Disease	p.Thr115Ala	VAR_062280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062280	- Glycogen storage disease type 14 (GSD14) [MIM:612934]	SWISS	119	cd03085	21361621,NP_002624
5251	2499917	Disease	p.Cys77Ser	VAR_006738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006738	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	40	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Phe80Ser	VAR_010616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010616	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	4	pfam05649	90403592,NP_000435
5251	2499917	Disease	p.Phe80Ser	VAR_010616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010616	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	43	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Cys85Phe	VAR_010617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010617	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	9	pfam05649	90403592,NP_000435
5251	2499917	Disease	p.Cys85Phe	VAR_010617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010617	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	48	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Cys85Arg	VAR_010618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010618	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	9	pfam05649	90403592,NP_000435
5251	2499917	Disease	p.Cys85Arg	VAR_010618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010618	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	48	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Cys85Tyr	VAR_006739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006739	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	9	pfam05649	90403592,NP_000435
5251	2499917	Disease	p.Cys85Tyr	VAR_006739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006739	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	48	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Leu138Pro	VAR_006740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006740	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	276	pfam05649	90403592,NP_000435
5251	2499917	Disease	p.Leu138Pro	VAR_006740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006740	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	105	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Ser141Pro	VAR_010619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010619	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	285	pfam05649	90403592,NP_000435
5251	2499917	Disease	p.Ser141Pro	VAR_010619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010619	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	108	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Cys142Phe	VAR_010620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010620	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	286	pfam05649	90403592,NP_000435
5251	2499917	Disease	p.Cys142Phe	VAR_010620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010620	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	109	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Leu160Arg	VAR_010621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010621	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	322	pfam05649	90403592,NP_000435
5251	2499917	Disease	p.Leu160Arg	VAR_010621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010621	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	127	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Arg166Cys	VAR_006741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006741	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	328	pfam05649	90403592,NP_000435
5251	2499917	Disease	p.Arg166Cys	VAR_006741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006741	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	129_G	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Asp237Gly	VAR_010622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010622	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	624	pfam05649	90403592,NP_000435
5251	2499917	Disease	p.Asp237Gly	VAR_010622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010622	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	189	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Phe252Ser	VAR_006742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006742	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	677	pfam05649	90403592,NP_000435
5251	2499917	Disease	p.Phe252Ser	VAR_006742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006742	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	204	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Met253Ile	VAR_006743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006743	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	681	pfam05649	90403592,NP_000435
5251	2499917	Disease	p.Met253Ile	VAR_006743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006743	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	205	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Tyr317Phe	VAR_010623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010623	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	912	pfam05649	90403592,NP_000435
5251	2499917	Disease	p.Tyr317Phe	VAR_010623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010623	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	273_G	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Trp530Cys	VAR_010626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010626	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	480	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Pro534Leu	VAR_006744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006744	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	484	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Leu555Pro	VAR_010627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010627	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	18	pfam01431	90403592,NP_000435
5251	2499917	Disease	p.Leu555Pro	VAR_010627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010627	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	505	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Arg567Pro	VAR_010628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010628	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	29	pfam01431	90403592,NP_000435
5251	2499917	Disease	p.Arg567Pro	VAR_010628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010628	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	516	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Ala573Asp	VAR_010629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010629	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	58	pfam01431	90403592,NP_000435
5251	2499917	Disease	p.Ala573Asp	VAR_010629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010629	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	522	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Gly579Arg	VAR_006745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006745	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	64	pfam01431	90403592,NP_000435
5251	2499917	Disease	p.Gly579Arg	VAR_006745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006745	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	528	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Gly579Val	VAR_006746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006746	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	64	pfam01431	90403592,NP_000435
5251	2499917	Disease	p.Gly579Val	VAR_006746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006746	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	528	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Gln621Arg	VAR_010630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010630	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	117	pfam01431	90403592,NP_000435
5251	2499917	Disease	p.Gln621Arg	VAR_010630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010630	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	570	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Arg651Pro	VAR_010631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010631	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	155	pfam01431	90403592,NP_000435
5251	2499917	Disease	p.Arg651Pro	VAR_010631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010631	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	606	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Asn680Lys	VAR_010633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010633	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	185	pfam01431	90403592,NP_000435
5251	2499917	Disease	p.Asn680Lys	VAR_010633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010633	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	647	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Cys693Tyr	VAR_010634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010634	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	198	pfam01431	90403592,NP_000435
5251	2499917	Disease	p.Cys693Tyr	VAR_010634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010634	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	660	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Ala720Thr	VAR_010635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010635	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	226	pfam01431	90403592,NP_000435
5251	2499917	Disease	p.Ala720Thr	VAR_010635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010635	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	687	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Phe731Tyr	VAR_010636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010636	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	237	pfam01431	90403592,NP_000435
5251	2499917	Disease	p.Phe731Tyr	VAR_010636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010636	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	698	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Cys733Ser	VAR_010637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010637	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	239	pfam01431	90403592,NP_000435
5251	2499917	Disease	p.Cys733Ser	VAR_010637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010637	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	701	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Cys746Trp	VAR_010638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010638	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	251	pfam01431	90403592,NP_000435
5251	2499917	Disease	p.Cys746Trp	VAR_010638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010638	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	715	COG3590	90403592,NP_000435
5251	2499917	Disease	p.Trp749Arg	VAR_010639	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010639	- X-linked hypophosphatemic rickets (HYP) [MIM:307800]	SWISS	No Domain	N/A	90403592,NP_000435
84295	42559482	Disease	p.Cys45Tyr	VAR_017633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017633	rs28935179 Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]	SWISS	No Domain	N/A	62865858,NP_001015877|28557677,NP_115834
84295	42559482	Disease	p.Cys99Phe	VAR_017634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017634	- Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]	SWISS	No Domain	N/A	62865858,NP_001015877|28557677,NP_115834
84295	42559482	Disease	p.His229Arg	VAR_017635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017635	- Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]	SWISS	No Domain	N/A	62865858,NP_001015877|28557677,NP_115834
84295	42559482	Disease	p.Lys234Glu	VAR_017636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017636	- Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]	SWISS	No Domain	N/A	62865858,NP_001015877|28557677,NP_115834
84295	42559482	Disease	p.Arg257Gly	VAR_017637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017637	- Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]	SWISS	No Domain	N/A	62865858,NP_001015877|28557677,NP_115834
23133	73620986	Disease	p.Phe315Ser	VAR_062250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062250	- Mental retardation syndromic X-linked Siderius type (MRXSSD) [MIM:300263]	SWISS	50	pfam02373	296531349,NP_001171825
26227	21264510	Disease	p.Arg135Trp	VAR_059026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059026	- Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]	SWISS	222	COG1052	23308577,NP_006614
26227	21264510	Disease	p.Arg135Trp	VAR_059026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059026	- Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]	SWISS	154	COG0111	23308577,NP_006614
26227	21264510	Disease	p.Arg135Trp	VAR_059026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059026	- Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]	SWISS	41	pfam02826	23308577,NP_006614
26227	21264510	Disease	p.Arg135Trp	VAR_059026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059026	- Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]	SWISS	156	pfam00389	23308577,NP_006614
26227	21264510	Disease	p.Val261Met	VAR_059027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059027	- Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]	SWISS	380	COG1052	23308577,NP_006614
26227	21264510	Disease	p.Val261Met	VAR_059027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059027	- Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]	SWISS	303	COG0111	23308577,NP_006614
26227	21264510	Disease	p.Val261Met	VAR_059027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059027	- Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]	SWISS	191	pfam02826	23308577,NP_006614
26227	21264510	Disease	p.Val261Met	VAR_059027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059027	- Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]	SWISS	301	pfam00389	23308577,NP_006614
26227	21264510	Disease	p.Ala373Thr	VAR_059028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059028	- Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]	SWISS	No Domain	N/A	23308577,NP_006614
26227	21264510	Disease	p.Gly377Ser	VAR_059029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059029	- Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]	SWISS	No Domain	N/A	23308577,NP_006614
26227	21264510	Disease	p.Val425Met	VAR_013461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013461	- Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]	SWISS	No Domain	N/A	23308577,NP_006614
26227	21264510	Disease	p.Val490Met	VAR_059030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059030	- Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]	SWISS	No Domain	N/A	23308577,NP_006614
5255	110282976	Disease	p.Asp299Val	VAR_020856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020856	- Glycogen storage disease type 9D (GSD9D) [MIM:300559]	SWISS	329	pfam00723	169881273,NP_002628
5256	1170685	Disease	p.His132Pro	VAR_006177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006177	- Glycogen storage disease type 9A (GSD9A) [MIM:306000]	SWISS	142	pfam00723	4505781,NP_000283
5256	1170685	Disease	p.His132Tyr	VAR_006178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006178	- Glycogen storage disease type 9A (GSD9A) [MIM:306000]	SWISS	142	pfam00723	4505781,NP_000283
5256	1170685	Disease	p.Arg186Cys	VAR_006180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006180	- Glycogen storage disease type 9A (GSD9A) [MIM:306000]	SWISS	214	pfam00723	4505781,NP_000283
5256	1170685	Disease	p.Arg186His	VAR_006181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006181	- Glycogen storage disease type 9A (GSD9A) [MIM:306000]	SWISS	214	pfam00723	4505781,NP_000283
5256	1170685	Disease	p.Lys189Glu	VAR_012269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012269	- Glycogen storage disease type 9A (GSD9A) [MIM:306000]	SWISS	217	pfam00723	4505781,NP_000283
5256	1170685	Disease	p.Gly193Val	VAR_012271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012271	- Glycogen storage disease type 9A (GSD9A) [MIM:306000]	SWISS	221	pfam00723	4505781,NP_000283
5256	1170685	Disease	p.Arg295His	VAR_012272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012272	- Glycogen storage disease type 9A (GSD9A) [MIM:306000]	SWISS	325	pfam00723	4505781,NP_000283
5256	1170685	Disease	p.Asp299Gly	VAR_006183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006183	- Glycogen storage disease type 9A (GSD9A) [MIM:306000]	SWISS	329	pfam00723	4505781,NP_000283
5256	1170685	Disease	p.Pro399Ser	VAR_012273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012273	- Glycogen storage disease type 9A (GSD9A) [MIM:306000]	SWISS	445	pfam00723	4505781,NP_000283
5256	1170685	Disease	p.Pro498Leu	VAR_062394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062394	- Glycogen storage disease type 9A (GSD9A) [MIM:306000]	SWISS	567	pfam00723	4505781,NP_000283
5256	1170685	Disease	p.Pro869Arg	VAR_062395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062395	- Glycogen storage disease type 9A (GSD9A) [MIM:306000]	SWISS	988	pfam00723	4505781,NP_000283
5256	1170685	Disease	p.Arg916Trp	VAR_062396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062396	- Glycogen storage disease type 9A (GSD9A) [MIM:306000]	SWISS	1047	pfam00723	4505781,NP_000283
5256	1170685	Disease	p.Met1113Ile	VAR_062398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062398	- Glycogen storage disease type 9A (GSD9A) [MIM:306000]	SWISS	No Domain	N/A	4505781,NP_000283
5256	1170685	Disease	p.Thr1114Ile	VAR_006185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006185	- Glycogen storage disease type 9A (GSD9A) [MIM:306000]	SWISS	No Domain	N/A	4505781,NP_000283
5256	1170685	Disease	p.Glu1125Lys	VAR_012276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012276	- Glycogen storage disease type 9A (GSD9A) [MIM:306000]	SWISS	No Domain	N/A	4505781,NP_000283
5256	1170685	Disease	p.Pro1205Leu	VAR_006186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006186	- Glycogen storage disease type 9A (GSD9A) [MIM:306000]	SWISS	No Domain	N/A	4505781,NP_000283
5256	1170685	Disease	p.Gly1207Trp	VAR_012277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012277	- Glycogen storage disease type 9A (GSD9A) [MIM:306000]	SWISS	No Domain	N/A	4505781,NP_000283
5257	2499582	Disease	p.Ala118Pro	VAR_015536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015536	- Glycogen storage disease type 9B (GSD9B) [MIM:261750]	SWISS	89	pfam00723	4505783,NP_000284
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	92	cd07843	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	97	cd07866	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	87	cd05048	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	98	cd06638	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	106	cd07854	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	86	cd05088	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	80	cd08228	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	95	cd06616	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	86	cd05118	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	78	cd07868	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	78	cd07867	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	80	cd08229	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	81	cd05089	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	96	cd05038	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	81	cd08224	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	100	cd07850	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd05034	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	84	cd06625	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	87	cd06644	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	95	cd07864	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	87	cd06637	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	117	cd06608	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	86	cd05111	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	83	cd05065	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	121	cd05622	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd05624	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	84	cd05599	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	127	cd05580	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	85	cd06617	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd05601	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd05597	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd05612	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	133	cd05573	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	98	cd06619	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd05628	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd05629	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	86	cd06652	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	91	cd07837	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd05627	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd05623	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	81	cd07869	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	81	cd06649	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	80	cd05598	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd05626	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	99	cd05574	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	77	cd06615	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	78	cd07847	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	100	cd07833	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd05581	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	107	cd07848	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	87	cd07862	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd07846	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	86	cd06653	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	89	cd06612	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd06610	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	113	cd05056	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd05609	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	426	COG0515	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	82	cd06605	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	77	cd06622	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	121	cd05596	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	121	cd05621	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	101	cd07875	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	100	cd07874	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	85	cd05081	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	92	cd06618	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	88	cd07852	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	120	cd05572	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	112	cd05123	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	72	cd05115	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	245	cd00180	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	71	cd05607	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	74	cd05577	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	73	cd05579	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	74	cd05586	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	71	cd05608	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd05068	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	75	cd05611	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd05073	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd05072	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	71	cd05585	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	78	cd05631	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	78	cd05630	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	78	cd05632	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	88	cd07857	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	83	cd05613	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	83	cd05583	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	86	cd06628	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	77	cd08218	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	77	cd07839	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	82	cd08529	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd08217	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	153	cd06606	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	78	cd08223	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	76	cd08219	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	104	cd08215	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	174	cd07842	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	76	cd07836	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	80	cd08530	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	77	cd08221	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	83	cd06627	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	88	cd07863	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd08220	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	77	cd07860	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	82	cd08222	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	77	cd08225	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	82	cd06631	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	78	cd05578	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	78	cd07861	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	121	cd07834	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	93	cd07841	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	96	cd08528	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	86	cd05050	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	83	cd07853	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd05616	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	84	cd05587	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd05615	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	83	cd05614	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	90	cd07832	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	82	cd07859	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	86	cd06651	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	102	cd05122	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	82	cd07873	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	80	cd06642	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	80	cd06640	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	88	cd07856	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	81	cd07844	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	80	cd06641	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	86	cd07845	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	82	cd07872	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	84	cd06645	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	93	cd06634	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	80	cd05600	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	76	cd05606	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	95	cd05035	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	97	cd06632	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	75	cd05633	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	102	cd06623	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	76	cd05582	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	81_G	cd06626	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd05625	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	82	cd05584	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	79	cd08216	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	77	cd08226	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	83	cd06620	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	74	cd05602	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	76	cd05042	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	72	cd05041	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	71	cd05084	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	73	cd05595	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	73	cd05571	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	73	cd05594	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	74	cd05620	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	74	cd05604	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	74	cd05592	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	74	cd05619	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	81	cd06630	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	74	cd05047	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	78	cd05040	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	71	cd05085	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	140	cd00192	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	82	cd05058	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	74	cd05575	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	85	cd06629	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	73	cd05116	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	76	cd05570	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	78	cd05060	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	73	cd05593	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	82	cd06621	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	74	cd05590	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	74	cd05588	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	74	cd05618	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	74	cd05591	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	74	cd05617	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	74	cd05603	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	88	cd05049	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	136	cd05057	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	97	cd06636	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	78	cd05605	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	86	cd05080	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	80	cd06613	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	86	cd05109	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	81	cd07870	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	86	cd05108	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	78	cd05082	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	87	cd05062	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	120	cd05032	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	78	cd05070	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	87	cd05061	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	78	cd05069	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	80	cd05052	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	96	cd06659	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	94	cd06648	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	97	cd06658	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	95	cd06657	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	81	cd07871	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	88	cd06624	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	95	cd06607	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	108	cd07851	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	104	cd07876	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	84	cd06646	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	99	cd06633	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	98	cd07880	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	105	cd07879	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	98	cd07878	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	109	cd06639	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	108	cd06614	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	103	cd06635	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	95	cd06654	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	94	cd06656	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	94	cd06655	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	94	cd06647	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	100	cd07877	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	301	smart00220	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	80	cd06643	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	77	cd05059	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	107	cd05033	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	121	cd07840	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	78	cd07831	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	105	cd07829	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	129	pfam07714	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	84	cd07835	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	242	smart00219	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	134	pfam00069	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	102	cd07838	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	370	smart00221	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	118	cd07830	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	84	cd06611	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	85	cd05074	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	80	cd05589	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	77	cd05113	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	77	cd05112	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	77	cd05114	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	102	cd07865	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	106	cd07855	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	90	cd07849	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	86	cd06917	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	85	cd05063	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	88	cd07858	4505785,NP_000285
5261	125536	Disease	p.Val106Glu	VAR_009517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009517	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	93	cd06609	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	147	cd07843	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	160	cd07866	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	156	cd05048	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	153	cd06638	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	155	cd07854	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	153	cd05088	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	135	cd08228	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	144	cd06616	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	138	cd05118	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	137	cd07868	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	137	cd07867	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	135	cd08229	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	148	cd05089	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	157	cd05038	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	136	cd08224	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	149	cd07850	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	132	cd05034	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	135	cd06625	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	139	cd06644	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	147	cd07864	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	140	cd06637	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	172	cd06608	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	138	cd05111	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	135	cd05065	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	171	cd05622	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	131	cd05624	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	135	cd05599	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	183	cd05580	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	134	cd06617	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	131	cd05601	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	131	cd05597	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd05612	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	186	cd05573	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	145	cd06619	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd05628	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd05629	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	159	cd06652	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	147	cd07837	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd05627	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	131	cd05623	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	132	cd07869	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	133	cd06649	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	131	cd05598	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd05626	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	152	cd05574	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	131	cd06615	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	135	cd07847	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	151	cd07833	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	245	cd05581	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	158	cd07848	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	139	cd07862	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd07846	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	135	cd06653	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	144	cd06612	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	141	cd06610	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	165	cd05056	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd05609	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	586	COG0515	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	147	cd06605	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	144	cd06622	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	171	cd05596	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	171	cd05621	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	155	cd07875	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	148	cd07874	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	137	cd05081	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	148	cd06618	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	138	cd07852	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	197	cd05572	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	645	cd05123	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	124	cd05115	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	370	cd00180	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	124	cd05607	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	129	cd05577	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	125	cd05579	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	125	cd05586	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	126	cd05608	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	134	cd05068	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	126	cd05611	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	132	cd05073	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	132	cd05072	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	122	cd05585	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	131	cd05631	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	131	cd05630	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	131	cd05632	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	138	cd07857	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	147	cd05613	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	134	cd05583	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	137	cd06628	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd08218	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	128	cd07839	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	135	cd08529	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	161	cd08217	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	210	cd06606	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	131	cd08223	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	129	cd08219	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	172	cd08215	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	233	cd07842	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	132	cd07836	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	135	cd08530	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	131	cd08221	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	136	cd06627	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	140	cd07863	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	139	cd08220	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	129	cd07860	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	136	cd08222	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd08225	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	133	cd06631	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd05578	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	131	cd07861	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	172	cd07834	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	146	cd07841	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	152	cd08528	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	162	cd05050	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	133	cd07853	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd05616	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	135	cd05587	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd05615	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	134	cd05614	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	144	cd07832	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	132	cd07859	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	135	cd06651	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	163	cd05122	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	133	cd07873	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd06642	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd06640	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	137	cd07856	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	133	cd07844	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd06641	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	150	cd07845	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	133	cd07872	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	135	cd06645	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	144	cd06634	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	131	cd05600	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	127	cd05606	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	152	cd05035	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	148	cd06632	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	126	cd05633	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	177	cd06623	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	127	cd05582	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	131	cd06626	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd05625	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	133	cd05584	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	132	cd08216	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd08226	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	135	cd06620	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	125	cd05602	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	132	cd05042	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	125	cd05041	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	123	cd05084	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	124	cd05595	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	125	cd05571	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	125	cd05594	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	140	cd05620	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	125	cd05604	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	140	cd05592	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	125	cd05619	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	132	cd06630	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	141	cd05047	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	133	cd05040	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	123	cd05085	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	338	cd00192	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	134	cd05058	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	125	cd05575	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	139	cd06629	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	124	cd05116	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	127	cd05570	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	131	cd05060	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	124	cd05593	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	139	cd06621	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	125	cd05590	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	125	cd05588	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	125	cd05618	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	125	cd05591	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	125	cd05617	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	125	cd05603	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	156	cd05049	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	191	cd05057	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	150	cd06636	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	131	cd05605	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	136	cd05080	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	132	cd06613	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	138	cd05109	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	132	cd07870	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	138	cd05108	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	131	cd05082	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	148	cd05062	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	193	cd05032	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	131	cd05070	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	149	cd05061	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	131	cd05069	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	133	cd05052	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	146	cd06659	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	145	cd06648	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	147	cd06658	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	145	cd06657	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	132	cd07871	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	142	cd06624	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	144	cd06607	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	163	cd07851	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	152	cd07876	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	135	cd06646	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	150	cd06633	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	147	cd07880	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	157	cd07879	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	147	cd07878	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	164	cd06639	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	181	cd06614	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	154	cd06635	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	145	cd06654	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	144	cd06656	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	144	cd06655	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	144	cd06647	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	149	cd07877	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	431	smart00220	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	132	cd06643	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	131	cd05059	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	167	cd05033	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd07840	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd07831	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	169	cd07829	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	285	pfam07714	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	155	cd07835	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	426	smart00219	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	220	pfam00069	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	155	cd07838	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	541	smart00221	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	181	cd07830	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	134	cd06611	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	142	cd05074	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd05589	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	130	cd05113	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	129	cd05112	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	129	cd05114	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	153	cd07865	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	157	cd07855	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	139	cd07849	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	139	cd06917	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	137	cd05063	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	138	cd07858	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	152	cd06609	4505785,NP_000285
5261	125536	Disease	p.Glu157Lys	VAR_020854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020854	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	58	smart00750	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	183	cd07843	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	208	cd07866	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	188	cd05048	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	186	cd06638	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	192	cd07854	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	185	cd05088	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	168	cd08228	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	177	cd06616	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	174	cd05118	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	177	cd07868	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	177	cd07867	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	168	cd08229	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	180	cd05089	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	196	cd05038	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	169	cd08224	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	183	cd07850	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	167	cd05034	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	171	cd06625	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	172	cd06644	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	179	cd07864	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	173	cd06637	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	205	cd06608	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	173	cd05111	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	167	cd05065	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	205	cd05622	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	165	cd05624	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	332	cd05599	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	223	cd05580	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	161	cd06617	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	166	cd05601	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	165	cd05597	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	160	cd05612	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	300	cd05573	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	176	cd06619	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	198	cd05628	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	224	cd05629	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	195	cd06652	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	181	cd07837	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	198	cd05627	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	165	cd05623	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	165	cd07869	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	164	cd06649	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	223	cd05598	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	210	cd05626	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	184	cd05574	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	162	cd06615	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	169	cd07847	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	200	cd07833	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	399	cd05581	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	192	cd07848	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	172	cd07862	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	164	cd07846	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	171	cd06653	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd06612	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	184	cd06610	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	200	cd05056	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	179	cd05609	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	799	COG0515	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	181	cd06605	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	176	cd06622	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	205	cd05596	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	205	cd05621	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	187	cd07875	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	180	cd07874	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	168	cd05081	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	180	cd06618	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	190	cd07852	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	233	cd05572	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	731	cd05123	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	159	cd05115	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	622	cd00180	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	156	cd05607	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	162	cd05577	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	705	cd05579	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	158	cd05586	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	159	cd05608	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	170	cd05068	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	353	cd05611	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	165	cd05073	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	165	cd05072	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	155	cd05585	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	163	cd05631	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	163	cd05630	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	163	cd05632	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	179	cd07857	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	181	cd05613	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	169	cd05583	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd06628	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	163	cd08218	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	161	cd07839	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	168	cd08529	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	233	cd08217	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	278	cd06606	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	164	cd08223	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	162	cd08219	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	230	cd08215	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	274	cd07842	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	165	cd07836	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	170	cd08530	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	166	cd08221	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	205	cd06627	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	172	cd07863	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	172	cd08220	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	162	cd07860	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	168	cd08222	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	164	cd08225	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	172	cd06631	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	168	cd05578	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	164	cd07861	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	249	cd07834	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	199	cd07841	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	185	cd08528	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	196	cd05050	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	167_G	cd07853	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	163	cd05616	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	168	cd05587	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	163	cd05615	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	168	cd05614	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	184	cd07832	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	173	cd07859	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	171	cd06651	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	202	cd05122	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	166	cd07873	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	163	cd06642	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	163	cd06640	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	167	cd07856	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	166	cd07844	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	163	cd06641	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	180_G	cd07845	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	166	cd07872	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	168	cd06645	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	173	cd06634	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	230	cd05600	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	158	cd05606	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	184	cd05035	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	184	cd06632	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	157	cd05633	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	216	cd06623	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	160	cd05582	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	197	cd06626	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	210	cd05625	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	166	cd05584	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	166	cd08216	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	163	cd08226	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	166	cd06620	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	158	cd05602	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	160	cd05042	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	159	cd05041	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	157	cd05084	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	157	cd05595	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	158	cd05571	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	158	cd05594	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	173	cd05620	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	158	cd05604	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	174	cd05592	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	158	cd05619	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	171	cd06630	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	173	cd05047	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	169	cd05040	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	156	cd05085	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	392	cd00192	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	166	cd05058	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	158	cd05575	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	175	cd06629	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	156	cd05116	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	160	cd05570	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	161	cd05060	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	157	cd05593	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	171	cd06621	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	158	cd05590	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	158	cd05588	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	158	cd05618	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	158	cd05591	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	158	cd05617	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	158	cd05603	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	184	cd05049	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	224	cd05057	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	183	cd06636	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	163	cd05605	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	171	cd05080	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	165	cd06613	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	170	cd05109	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	165	cd07870	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	170	cd05108	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	163	cd05082	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd05062	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	223	cd05032	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	156_G	cd05070	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	179	cd05061	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	156_G	cd05069	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	164	cd05052	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	179	cd06659	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd06648	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	180	cd06658	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd06657	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	165	cd07871	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	176	cd06624	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	173	cd06607	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	196	cd07851	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	184	cd07876	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	168	cd06646	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	179	cd06633	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	177	cd07880	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	187	cd07879	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	177	cd07878	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	197	cd06639	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	216	cd06614	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	183	cd06635	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd06654	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	177	cd06656	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	177	cd06655	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	177	cd06647	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	179	cd07877	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	661	smart00220	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	165	cd06643	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	159	cd05059	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	200	cd05033	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	223	cd07840	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	168	cd07831	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	216	cd07829	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	339	pfam07714	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	189	cd07835	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	535	smart00219	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	291	pfam00069	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	211	cd07838	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	724	smart00221	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	237	cd07830	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	167	cd06611	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	174	cd05074	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	163	cd05589	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	162	cd05113	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	160	cd05112	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	161	cd05114	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	192	cd07865	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	199	cd07855	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	186	cd07849	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	175	cd06917	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	167	cd05063	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	174	cd07858	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	191	cd06609	4505785,NP_000285
5261	125536	Disease	p.Gly189Glu	VAR_009518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009518	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	107	smart00750	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	206	cd07843	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	232	cd07866	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	211	cd05048	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	211	cd06638	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	213	cd07854	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	205	cd05088	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	188	cd08228	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	200	cd06616	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	195	cd05118	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	198	cd07868	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	198	cd07867	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	188	cd08229	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	200	cd05089	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	220	cd05038	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	189	cd08224	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	203	cd07850	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	196	cd05034	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	192	cd06625	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	197	cd06644	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	203	cd07864	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	198	cd06637	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	235	cd06608	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	193	cd05111	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	193	cd05065	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	229	cd05622	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	190	cd05624	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	397	cd05599	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	245	cd05580	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	190	cd06617	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	194	cd05601	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	192	cd05597	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	180	cd05612	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	327	cd05573	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	196	cd06619	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	218	cd05628	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	244	cd05629	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	215	cd06652	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	202	cd07837	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	218	cd05627	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	190	cd05623	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	186	cd07869	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	184	cd06649	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	243	cd05598	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	230	cd05626	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	279	cd05574	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	182	cd06615	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	190	cd07847	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	242	cd07833	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	433	cd05581	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	212	cd07848	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	192	cd07862	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	185	cd07846	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	191	cd06653	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	202	cd06612	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	206	cd06610	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	221	cd05056	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	199	cd05609	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	874	COG0515	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	206	cd06605	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	207	cd06622	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	230	cd05596	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	229	cd05621	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	207	cd07875	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	200	cd07874	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	193	cd05081	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	205	cd06618	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	211	cd07852	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	253	cd05572	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	794	cd05123	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	180	cd05115	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	667	cd00180	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	177	cd05607	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	183	cd05577	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	726	cd05579	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	179	cd05586	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	179	cd05608	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	191	cd05068	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	374	cd05611	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	186	cd05073	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	186	cd05072	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	175	cd05585	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	183	cd05631	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	183	cd05630	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	183	cd05632	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	200	cd07857	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	203	cd05613	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	191	cd05583	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	198	cd06628	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	183	cd08218	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	182	cd07839	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	188	cd08529	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	255	cd08217	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	328	cd06606	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	184	cd08223	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	182	cd08219	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	251	cd08215	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	298	cd07842	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	186	cd07836	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	190	cd08530	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	186	cd08221	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	227	cd06627	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	192	cd07863	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	192	cd08220	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	183	cd07860	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	188	cd08222	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	184	cd08225	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	192	cd06631	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	193	cd05578	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	185	cd07861	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	271	cd07834	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	220	cd07841	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	205	cd08528	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	217	cd05050	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	188	cd07853	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	183	cd05616	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	188	cd05587	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	183	cd05615	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	189	cd05614	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	205	cd07832	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	195	cd07859	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	191	cd06651	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	227	cd05122	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	187	cd07873	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	183	cd06642	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	183	cd06640	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	188	cd07856	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	187	cd07844	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	183	cd06641	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	206	cd07845	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	187	cd07872	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	191	cd06645	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	196	cd06634	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	251	cd05600	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	179	cd05606	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	207	cd05035	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	208	cd06632	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd05633	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	241	cd06623	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	180	cd05582	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	229	cd06626	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	230	cd05625	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	186	cd05584	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	195	cd08216	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	192	cd08226	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	188	cd06620	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd05602	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	195	cd05042	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	180	cd05041	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd05084	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	177	cd05595	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd05571	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd05594	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	193	cd05620	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd05604	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	194	cd05592	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd05619	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	191	cd06630	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	193	cd05047	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	195	cd05040	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	177	cd05085	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	420	cd00192	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	191	cd05058	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd05575	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	198	cd06629	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	180	cd05116	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	180	cd05570	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	187	cd05060	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	177	cd05593	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	191	cd06621	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd05590	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd05588	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd05618	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd05591	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd05617	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	178	cd05603	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	216	cd05049	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	247	cd05057	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	208	cd06636	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	183	cd05605	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	192	cd05080	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	191	cd06613	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	193	cd05109	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	186	cd07870	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	193	cd05108	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	181	cd05082	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	203	cd05062	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	248	cd05032	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	185	cd05070	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	204	cd05061	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	185	cd05069	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	187	cd05052	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	199	cd06659	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	198	cd06648	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	200	cd06658	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	198	cd06657	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	186	cd07871	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	198	cd06624	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	196	cd06607	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	218	cd07851	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	204	cd07876	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	191	cd06646	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	202	cd06633	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	198	cd07880	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	208	cd07879	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	198	cd07878	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	222	cd06639	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	236	cd06614	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	206	cd06635	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	198	cd06654	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	197	cd06656	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	197	cd06655	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	197	cd06647	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	200	cd07877	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	776	smart00220	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	190	cd06643	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	185	cd05059	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	227	cd05033	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	282	cd07840	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	189	cd07831	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	237	cd07829	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	379	pfam07714	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	210	cd07835	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	571	smart00219	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	334	pfam00069	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	231	cd07838	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	837	smart00221	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	258	cd07830	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	192	cd06611	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	197	cd05074	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	183	cd05589	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	184	cd05113	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	183	cd05112	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	183	cd05114	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	213	cd07865	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	220	cd07855	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	207	cd07849	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	196	cd06917	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	193	cd05063	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	196	cd07858	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	213	cd06609	4505785,NP_000285
5261	125536	Disease	p.Asp215Asn	VAR_020855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020855	- Glycogen storage disease type 9C (GSD9C) [MIM:613027]	SWISS	173	smart00750	4505785,NP_000285
401	77416873	Disease	p.Ala72Val	VAR_019014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019014	- Congenital fibrosis of extraocular muscles type 2 (CFEOM2) [MIM:602078]	SWISS	32	COG5576	46249382,NP_005160
8929	116242712	Disease	p.Arg141Gln	VAR_046900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046900	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	53	pfam00046	12707580,NP_003915
8929	116242712	Disease	p.Arg141Gln	VAR_046900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046900	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	83	smart00389	12707580,NP_003915
8929	116242712	Disease	p.Arg141Gln	VAR_046900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046900	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	75	cd00086	12707580,NP_003915
8929	116242712	Disease	p.Arg141Gln	VAR_046900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046900	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	96	COG5576	12707580,NP_003915
8929	116242712	Disease	p.Gln143Arg	VAR_046901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046901	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	55	pfam00046	12707580,NP_003915
8929	116242712	Disease	p.Gln143Arg	VAR_046901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046901	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	85	smart00389	12707580,NP_003915
8929	116242712	Disease	p.Gln143Arg	VAR_046901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046901	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	77	cd00086	12707580,NP_003915
8929	116242712	Disease	p.Gln143Arg	VAR_046901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046901	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	98	COG5576	12707580,NP_003915
5264	6093646	Disease	p.Pro29Ser	VAR_017482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017482	rs28938169 Refsum disease (RD) [MIM:266500]	SWISS	No Domain	N/A	5453884,NP_006205
5264	6093646	Disease	p.Asn83Tyr	VAR_018619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018619	- Refsum disease (RD) [MIM:266500]	SWISS	28	pfam05721	5453884,NP_006205
5264	6093646	Disease	p.Asn83Tyr	VAR_018619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018619	- Refsum disease (RD) [MIM:266500]	SWISS	49	COG5285	5453884,NP_006205
5264	6093646	Disease	p.Pro173Ser	VAR_017483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017483	- Refsum disease (RD) [MIM:266500]	SWISS	173	pfam05721	5453884,NP_006205
5264	6093646	Disease	p.Pro173Ser	VAR_017483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017483	- Refsum disease (RD) [MIM:266500]	SWISS	150	COG5285	5453884,NP_006205
5264	6093646	Disease	p.His175Arg	VAR_018631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018631	- Refsum disease (RD) [MIM:266500]	SWISS	175	pfam05721	5453884,NP_006205
5264	6093646	Disease	p.His175Arg	VAR_018631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018631	- Refsum disease (RD) [MIM:266500]	SWISS	152	COG5285	5453884,NP_006205
5264	6093646	Disease	p.Gln176Lys	VAR_017484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017484	rs28939672 Refsum disease (RD) [MIM:266500]	SWISS	176	pfam05721	5453884,NP_006205
5264	6093646	Disease	p.Gln176Lys	VAR_017484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017484	rs28939672 Refsum disease (RD) [MIM:266500]	SWISS	153	COG5285	5453884,NP_006205
5264	6093646	Disease	p.Asp177Gly	VAR_017485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017485	- Refsum disease (RD) [MIM:266500]	SWISS	177	pfam05721	5453884,NP_006205
5264	6093646	Disease	p.Asp177Gly	VAR_017485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017485	- Refsum disease (RD) [MIM:266500]	SWISS	154	COG5285	5453884,NP_006205
5264	6093646	Disease	p.Trp193Arg	VAR_017486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017486	- Refsum disease (RD) [MIM:266500]	SWISS	207	pfam05721	5453884,NP_006205
5264	6093646	Disease	p.Trp193Arg	VAR_017486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017486	- Refsum disease (RD) [MIM:266500]	SWISS	184	COG5285	5453884,NP_006205
5264	6093646	Disease	p.Glu197Gln	VAR_017487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017487	- Refsum disease (RD) [MIM:266500]	SWISS	211	pfam05721	5453884,NP_006205
5264	6093646	Disease	p.Glu197Gln	VAR_017487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017487	- Refsum disease (RD) [MIM:266500]	SWISS	188	COG5285	5453884,NP_006205
5264	6093646	Disease	p.Ile199Phe	VAR_017488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017488	- Refsum disease (RD) [MIM:266500]	SWISS	213	pfam05721	5453884,NP_006205
5264	6093646	Disease	p.Ile199Phe	VAR_017488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017488	- Refsum disease (RD) [MIM:266500]	SWISS	190	COG5285	5453884,NP_006205
5264	6093646	Disease	p.Gly204Ser	VAR_017489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017489	rs28939673 Refsum disease (RD) [MIM:266500]	SWISS	218	pfam05721	5453884,NP_006205
5264	6093646	Disease	p.Gly204Ser	VAR_017489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017489	rs28939673 Refsum disease (RD) [MIM:266500]	SWISS	195	COG5285	5453884,NP_006205
5264	6093646	Disease	p.His220Tyr	VAR_017490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017490	- Refsum disease (RD) [MIM:266500]	SWISS	234	pfam05721	5453884,NP_006205
5264	6093646	Disease	p.His220Tyr	VAR_017490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017490	- Refsum disease (RD) [MIM:266500]	SWISS	211	COG5285	5453884,NP_006205
5264	6093646	Disease	p.Arg245Gln	VAR_017491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017491	- Refsum disease (RD) [MIM:266500]	SWISS	279	pfam05721	5453884,NP_006205
5264	6093646	Disease	p.Arg245Gln	VAR_017491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017491	- Refsum disease (RD) [MIM:266500]	SWISS	245	COG5285	5453884,NP_006205
5264	6093646	Disease	p.Phe257Ser	VAR_017492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017492	- Refsum disease (RD) [MIM:266500]	SWISS	291	pfam05721	5453884,NP_006205
5264	6093646	Disease	p.Phe257Ser	VAR_017492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017492	- Refsum disease (RD) [MIM:266500]	SWISS	257	COG5285	5453884,NP_006205
5264	6093646	Disease	p.Asn269His	VAR_005525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005525	- Refsum disease (RD) [MIM:266500]	SWISS	303	pfam05721	5453884,NP_006205
5264	6093646	Disease	p.Asn269His	VAR_005525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005525	- Refsum disease (RD) [MIM:266500]	SWISS	269	COG5285	5453884,NP_006205
5264	6093646	Disease	p.Arg275Gln	VAR_017493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017493	rs28939674 Refsum disease (RD) [MIM:266500]	SWISS	311	pfam05721	5453884,NP_006205
5264	6093646	Disease	p.Arg275Gln	VAR_017493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017493	rs28939674 Refsum disease (RD) [MIM:266500]	SWISS	276	COG5285	5453884,NP_006205
5264	6093646	Disease	p.Arg275Trp	VAR_005526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005526	rs28939671 Refsum disease (RD) [MIM:266500]	SWISS	311	pfam05721	5453884,NP_006205
5264	6093646	Disease	p.Arg275Trp	VAR_005526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005526	rs28939671 Refsum disease (RD) [MIM:266500]	SWISS	276	COG5285	5453884,NP_006205
5277	585696	Disease	p.Arg19Trp	VAR_015442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015442	rs34422225 Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	No Domain	N/A	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	6	cd03798	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	6	cd01635	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	8	cd03825	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	8	cd03802	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	8	COG0438	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	7	cd03812	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	7	cd03795	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	7	cd03823	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	7	cd03791	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	7	cd03809	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	7	cd03821	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	7	cd03811	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	10	cd03800	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	7	cd03820	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	7	cd03808	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	7	cd03817	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	7	cd03794	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	7	cd03796	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	7	cd03813	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	7	cd03801	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	6_G	cd03822	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	7	cd03814	11863130,NP_002632
5277	585696	Disease	p.Asp40His	VAR_015436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015436	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	7	cd03807	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	25	cd03798	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	67	cd01635	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	14	cd03825	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	28	cd03802	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	18	COG0438	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	14	cd04946	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	15	cd03812	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	18	cd03795	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	20	cd03823	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	29	cd03791	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	27	cd03809	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	17	cd03821	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	32	cd03811	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	26	cd03800	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	17	cd03820	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	17	cd03808	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	16	cd03817	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	18	cd03794	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	15	cd03796	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	16	cd03813	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	28	cd03801	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	22	cd03822	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	16	cd03814	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	20	cd03807	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	14	cd03819	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	4	cd05844	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	13	cd04951	11863130,NP_002632
5277	585696	Disease	p.Gly48Ala	VAR_015437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015437	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	16	cd04955	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	25	cd03798	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	67	cd01635	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	14	cd03825	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	28	cd03802	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	18	COG0438	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	14	cd04946	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	15	cd03812	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	18	cd03795	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	20	cd03823	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	29	cd03791	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	27	cd03809	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	17	cd03821	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	32	cd03811	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	26	cd03800	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	17	cd03820	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	17	cd03808	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	16	cd03817	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	18	cd03794	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	15	cd03796	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	16	cd03813	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	28	cd03801	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	22	cd03822	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	16	cd03814	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	20	cd03807	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	14	cd03819	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	4	cd05844	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	13	cd04951	11863130,NP_002632
5277	585696	Disease	p.Gly48Asp	VAR_015438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015438	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	16	cd04955	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	25	cd03798	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	67	cd01635	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	14	cd03825	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	28	cd03802	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	18	COG0438	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	14	cd04946	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	15	cd03812	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	18	cd03795	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	20	cd03823	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	29	cd03791	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	27	cd03809	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	17	cd03821	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	32	cd03811	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	26	cd03800	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	17	cd03820	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	17	cd03808	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	16	cd03817	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	18	cd03794	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	15	cd03796	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	16	cd03813	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	28	cd03801	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	22	cd03822	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	16	cd03814	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	20	cd03807	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	14	cd03819	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	4	cd05844	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	13	cd04951	11863130,NP_002632
5277	585696	Disease	p.Gly48Val	VAR_015439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015439	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	16	cd04955	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	166	cd03798	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	284	cd01635	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	120	cd03825	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	119	cd03802	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	202	COG0438	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	105	cd04946	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	123	cd04949	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	168	cd03799	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	104	cd03812	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	111	cd03795	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	128	cd03823	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	159	cd03791	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	213	cd03809	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	114	cd03821	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	159	cd03811	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	170	cd03800	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	191	cd03820	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	115	cd03808	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	106	cd03817	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	146	cd03794	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	108	cd03796	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	134	cd03813	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	192	cd03801	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	109	cd03822	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	126	cd03814	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	114	cd03807	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	58	pfam08288	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	98	cd04962	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	90	cd03819	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	108	cd05844	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	91	cd04951	11863130,NP_002632
5277	585696	Disease	p.His128Arg	VAR_015440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015440	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	111	cd04955	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	204	cd03798	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	328	cd01635	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	188	cd03825	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	144	cd03802	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	270	COG0438	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	133	cd04946	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	161	cd04949	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	199_G	cd03799	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	140	cd03812	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	140_G	cd03795	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	158	cd03823	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	211	cd03791	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	247	cd03809	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	149	cd03821	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	196	cd03811	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	208	cd03800	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	234	cd03820	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	160	cd03808	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	134	cd03817	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	180	cd03794	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	135	cd03796	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	183	cd03813	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	226	cd03801	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	158	cd03822	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	173	cd03814	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	153	cd03807	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	85	pfam08288	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	138	cd04962	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	118_G	cd03819	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	132_G	cd05844	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	102	cd04951	11863130,NP_002632
5277	585696	Disease	p.Ser155Phe	VAR_005531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005531	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	148	cd04955	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	331	cd03798	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	539	cd01635	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	300	cd03825	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	225	cd03802	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	571	COG0438	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	279	cd04946	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	30	pfam00534	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	264	cd04949	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	304	cd03799	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	242	cd03812	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	281	cd03795	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	328	cd03823	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	491	cd03791	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	405	cd03809	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	271	cd03821	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	352	cd03811	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	375	cd03800	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	379	cd03820	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	270	cd03808	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	277	cd03817	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	307	cd03794	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	237	cd03796	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	375	cd03813	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	403	cd03801	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	285	cd03822	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	306	cd03814	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	266	cd03807	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	207	cd04962	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	237	cd03819	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	229	cd05844	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	212	cd04951	11863130,NP_002632
5277	585696	Disease	p.Gly239Arg	VAR_015441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015441	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	252	cd04955	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	407	cd03798	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	709	cd01635	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	362	cd03825	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	297	cd03802	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	788	COG0438	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	342	cd04946	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	107	pfam00534	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	328	cd04949	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	371	cd03799	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	308	cd03812	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	343	cd03795	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	407	cd03823	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	579	cd03791	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	484	cd03809	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	337	cd03821	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	429	cd03811	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	468	cd03800	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	447	cd03820	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	349	cd03808	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	340	cd03817	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	380	cd03794	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	295	cd03796	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	440	cd03813	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	509	cd03801	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	358	cd03822	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	375	cd03814	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	335	cd03807	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	278	cd04962	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	312	cd03819	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	292	cd05844	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	274	cd04951	11863130,NP_002632
5277	585696	Disease	p.Asn297Asp	VAR_005532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005532	- Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]	SWISS	312	cd04955	11863130,NP_002632
5290	126302584	Disease	p.Glu542Lys	VAR_026173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026173	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	25	pfam00613	54792082,NP_006209
5290	126302584	Disease	p.Glu542Lys	VAR_026173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026173	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	26	cd00870	54792082,NP_006209
5290	126302584	Disease	p.Glu542Lys	VAR_026173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026173	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	22	smart00145	54792082,NP_006209
5290	126302584	Disease	p.Glu542Lys	VAR_026173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026173	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	19	cd00864	54792082,NP_006209
5290	126302584	Disease	p.Glu542Lys	VAR_026173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026173	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	18	cd00869	54792082,NP_006209
5290	126302584	Disease	p.Glu542Lys	VAR_026173	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026173	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	18	cd00872	54792082,NP_006209
5290	126302584	Disease	p.Glu545Gly	VAR_026177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026177	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	28	pfam00613	54792082,NP_006209
5290	126302584	Disease	p.Glu545Gly	VAR_026177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026177	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	29	cd00870	54792082,NP_006209
5290	126302584	Disease	p.Glu545Gly	VAR_026177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026177	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	25	smart00145	54792082,NP_006209
5290	126302584	Disease	p.Glu545Gly	VAR_026177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026177	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	22	cd00864	54792082,NP_006209
5290	126302584	Disease	p.Glu545Gly	VAR_026177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026177	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	21	cd00869	54792082,NP_006209
5290	126302584	Disease	p.Glu545Gly	VAR_026177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026177	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	21	cd00872	54792082,NP_006209
5290	126302584	Disease	p.Glu545Lys	VAR_026178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026178	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	28	pfam00613	54792082,NP_006209
5290	126302584	Disease	p.Glu545Lys	VAR_026178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026178	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	29	cd00870	54792082,NP_006209
5290	126302584	Disease	p.Glu545Lys	VAR_026178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026178	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	25	smart00145	54792082,NP_006209
5290	126302584	Disease	p.Glu545Lys	VAR_026178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026178	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	22	cd00864	54792082,NP_006209
5290	126302584	Disease	p.Glu545Lys	VAR_026178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026178	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	21	cd00869	54792082,NP_006209
5290	126302584	Disease	p.Glu545Lys	VAR_026178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026178	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	21	cd00872	54792082,NP_006209
5290	126302584	Disease	p.His1047Arg	VAR_026192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026192	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	339	cd00893	54792082,NP_006209
5290	126302584	Disease	p.His1047Arg	VAR_026192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026192	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	338	cd05177	54792082,NP_006209
5290	126302584	Disease	p.His1047Arg	VAR_026192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026192	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	336	cd05176	54792082,NP_006209
5290	126302584	Disease	p.His1047Arg	VAR_026192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026192	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	337	cd00895	54792082,NP_006209
5290	126302584	Disease	p.His1047Arg	VAR_026192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026192	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	444	cd05167	54792082,NP_006209
5290	126302584	Disease	p.His1047Arg	VAR_026192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026192	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	332	cd05168	54792082,NP_006209
5290	126302584	Disease	p.His1047Arg	VAR_026192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026192	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	645	cd00896	54792082,NP_006209
5290	126302584	Disease	p.His1047Arg	VAR_026192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026192	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	535	cd00891	54792082,NP_006209
5290	126302584	Disease	p.His1047Arg	VAR_026192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026192	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	349	cd05175	54792082,NP_006209
5290	126302584	Disease	p.His1047Arg	VAR_026192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026192	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	345	cd05174	54792082,NP_006209
5290	126302584	Disease	p.His1047Arg	VAR_026192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026192	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	349	cd00894	54792082,NP_006209
5290	126302584	Disease	p.His1047Arg	VAR_026192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026192	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	387	cd05165	54792082,NP_006209
5290	126302584	Disease	p.His1047Arg	VAR_026192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026192	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	349_G	cd05166	54792082,NP_006209
5290	126302584	Disease	p.His1047Arg	VAR_026192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026192	- Keratosis seborrheic (KERSEB) [MIM:182000]	SWISS	350	cd05173	54792082,NP_006209
200576	300669693	Disease	p.Lys1103Arg	VAR_025309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025309	- Corneal fleck dystrophy (CFD) [MIM:121850]	SWISS	No Domain	N/A	121583483,NP_055855
65018	48428484	Disease	p.Cys92Phe	VAR_046568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046568	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	No Domain	N/A	14165272,NP_115785
65018	48428484	Disease	p.Cys125Gly	VAR_062773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062773	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	No Domain	N/A	14165272,NP_115785
65018	48428484	Disease	p.Arg147His	VAR_046574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046574	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	No Domain	N/A	14165272,NP_115785
65018	48428484	Disease	p.Ala168Pro	VAR_046575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046575	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	21	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Ala168Pro	VAR_046575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046575	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	10	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Ala168Pro	VAR_046575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046575	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	13	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Ala168Pro	VAR_046575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046575	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	17	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Ala168Pro	VAR_046575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046575	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	13	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Pro196Leu	VAR_046577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046577	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	58_G	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Pro196Leu	VAR_046577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046577	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	41	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Pro196Leu	VAR_046577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046577	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	75	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Pro196Leu	VAR_046577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046577	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	40_G	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Pro196Leu	VAR_046577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046577	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	79	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Ala217Asp	VAR_046578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046578	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	74	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Ala217Asp	VAR_046578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046578	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	62	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Ala217Asp	VAR_046578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046578	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	59	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Ala217Asp	VAR_046578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046578	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	103	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Ala217Asp	VAR_046578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046578	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	52	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Ala217Asp	VAR_046578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046578	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	100	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Glu240Lys	VAR_046581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046581	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	97	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Glu240Lys	VAR_046581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046581	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	2	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Glu240Lys	VAR_046581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046581	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	138	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Glu240Lys	VAR_046581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046581	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	35	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Glu240Lys	VAR_046581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046581	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	143	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Glu240Lys	VAR_046581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046581	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	13	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Glu240Lys	VAR_046581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046581	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	26	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Glu240Lys	VAR_046581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046581	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	78	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Glu240Lys	VAR_046581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046581	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	236	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Glu240Lys	VAR_046581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046581	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	71	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Glu240Lys	VAR_046581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046581	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	141	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	118	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	85	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	62	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	104	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	168	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	54	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	173	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	58	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	71	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	48	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	28	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	35	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	52	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	107	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	43	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	34	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	73	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	277	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	91	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	210	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	89	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	48	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	78	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Leu268Val	VAR_046584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046584	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	61	cd07838	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	123	cd06606	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	91	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	67	cd07829	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	111	cd05581	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	171	cd00180	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	57	cd07831	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	188	smart00220	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	61	cd05118	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	75	cd05122	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	63	cd06627	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	31	cd08219	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	38	cd08220	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	55	cd06628	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	110	cd00192	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	46	cd08530	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	37	cd07832	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	77	cd08215	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	289	smart00221	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	94	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	213	smart00219	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	92	cd07830	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	51	cd06625	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	93	cd05123	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	2	cd06610	14165272,NP_115785
65018	48428484	Disease	p.His271Gln	VAR_046585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046585	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	66	cd07838	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	131	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	103	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	75	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	119	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	179	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	69	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	202	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	69	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	83	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	71	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	37	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	46	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	63	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	118	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	53_G	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	56	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	85	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	299	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	102	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	221	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	100	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	59	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	101	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	19	cd06610	14165272,NP_115785
65018	48428484	Disease	p.Arg279His	VAR_046587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046587	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	74	cd07838	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	132	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	104	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	76	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	120	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	180	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	70	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	217	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	70	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	84	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	72	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	38	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	47	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	64	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	119	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	53_G	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	57	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	86	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	300	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	103	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	222	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	101	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	60	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	102	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	20	cd06610	14165272,NP_115785
65018	48428484	Disease	p.Ala280Thr	VAR_062774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062774	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	75	cd07838	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	9	cd06632	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	144_G	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	143	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	98_G	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	160	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	237	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	84_G	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	42	cd05579	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	287	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	78	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	94_G	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	88_G	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	71	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	77	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	83_G	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	167	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	72	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	82	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	108	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	360	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	116	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	310	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	31	cd06614	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	110_G	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	78_G	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	396	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	65	cd06610	14165272,NP_115785
65018	48428484	Disease	p.Gly309Asp	VAR_018994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018994	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	94	cd07838	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	21	cd06632	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	148	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	147	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	101	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	164	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	241	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	85	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	46	cd05579	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	291	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	82	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	98	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	91	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	72_G	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	87	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	84	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	171	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	76	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	86	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	112	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	364	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	120	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	314	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	4	cd05578	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	35	cd06614	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	114	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	80	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	400	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	75	cd06610	14165272,NP_115785
65018	48428484	Disease	p.Thr313Met	VAR_046589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046589	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	98	cd07838	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	129	cd06632	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	190	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	190	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	150	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	226	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	340	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	111	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	106	cd05579	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	378	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	119	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	143	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	117	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	110	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	120	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	118	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	317	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	116	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	125	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	148	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	471	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	264	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	394	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	82	cd05578	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	160	cd06614	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	162	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	116	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	625	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	122	cd06610	14165272,NP_115785
65018	48428484	Disease	p.Leu347Pro	VAR_046593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046593	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	136	cd07838	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	151	cd06632	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	213	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	223	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	172	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	248	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	373	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	133	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	128	cd05579	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	435	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	141	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	166	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	139	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	132	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	142	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	140	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	341	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	138	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	147	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	175	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	544	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	288	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	429	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	133	cd05578	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	184	cd06614	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	184	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	138	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	648	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	144	cd06610	14165272,NP_115785
65018	48428484	Disease	p.Leu369Pro	VAR_062775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062775	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	158	cd07838	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	164	cd06632	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	235	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	256	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	195	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	261	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	445	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	152	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	141	cd05579	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	530	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	154	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	180	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	155	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	145	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	156	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	153	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	365	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	154	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	165	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	205	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	623	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	320	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	458	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	146	cd05578	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	197	cd06614	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	221	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	151	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	661	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	157	cd06610	14165272,NP_115785
65018	48428484	Disease	p.Gly386Ala	VAR_062776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062776	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	172	cd07838	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	164_G	cd06632	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	237	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	258	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	195_G	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	265	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	447	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	154	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	146	cd05579	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	533	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	156	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	182	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	157	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	147	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	156_G	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	155	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	365_G	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	156	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	167	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	207	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	625	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	322	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	460	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	146_G	cd05578	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	197_G	cd06614	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	221_G	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	153	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	663	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	161	cd06610	14165272,NP_115785
65018	48428484	Disease	p.Cys388Arg	VAR_046596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046596	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	172_G	cd07838	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	177	cd06632	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	276	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	288	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	210	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	276	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	458	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	162	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	157	cd05579	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	628	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	171	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	189	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	176	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	155	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	162	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	167	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	374_G	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	169_G	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	179	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	223	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	677	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	345	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	498	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	152	cd05578	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	197_G	cd06614	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	231	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	164	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	687	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	172	cd06610	14165272,NP_115785
65018	48428484	Disease	p.Pro399Leu	VAR_062777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062777	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	183_G	cd07838	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	183_G	cd06632	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	282_G	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	295_G	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	220_G	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	393	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	620	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	173	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	395	cd05579	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	657	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	179	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	201_G	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	201	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	161_G	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	170	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	176	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	387	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	169_G	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	188_G	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	229_G	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	685	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	349_G	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	528	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	166	cd05578	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	201	cd06614	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	242	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	170_G	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	729	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	180	cd06610	14165272,NP_115785
65018	48428484	Disease	p.Arg407Gln	VAR_062778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062778	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	183_G	cd07838	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	184	cd06632	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	282_G	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	295_G	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	220_G	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	395	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	622	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	173_G	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	397	cd05579	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	661	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	179_G	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	202	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	203	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	162	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	172	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	178	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	389	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	170	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	188_G	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	230	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	687	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	349_G	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	532	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	168	cd05578	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	203	cd06614	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	242_G	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	171	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	731	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	184	cd06610	14165272,NP_115785
65018	48428484	Disease	p.Gly409Val	VAR_062779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062779	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	183_G	cd07838	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	192	cd06632	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	286	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	303	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	224	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	407	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	630	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	176	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	713	cd05579	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	710	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	182	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	210	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	213	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	170	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	180	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	186	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	401	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	178	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	192	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	238	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	721	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	355	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	557	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	176	cd05578	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	224	cd06614	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	245	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	179	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	739	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	192	cd06610	14165272,NP_115785
65018	48428484	Disease	p.Glu417Gly	VAR_046599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046599	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	186	cd07838	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	236_G	cd06632	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	361	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	379	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	304	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	461	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	814	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	242	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	770	cd05579	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	879	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	222	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	297	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	257	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	211	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	221	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	227	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	463	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	219	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	253	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	282	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	941	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	433	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	646	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	224	cd05578	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	258	cd06614	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	332	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	222	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	831	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	235	cd06610	14165272,NP_115785
65018	48428484	Disease	p.Arg464His	VAR_046605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046605	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	284	cd07838	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	263	cd06632	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	410	cd06606	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	449	pfam00069	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	345	cd07829	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	510	cd05581	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	839	cd00180	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	280	cd07831	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	804	cd05579	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	1189	smart00220	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	248	cd05118	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	334	cd05122	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	283	cd06627	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	235	cd08219	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	245	cd08220	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	252	cd06628	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	502	cd00192	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	244	cd08530	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	294	cd07832	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	318	cd08215	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	986	smart00221	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	464	pfam07714	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	682	smart00219	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	263	cd05578	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	291	cd06614	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	376	cd07830	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	246	cd06625	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	885	cd05123	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	272	cd06610	14165272,NP_115785
65018	48428484	Disease	p.Leu489Pro	VAR_046607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046607	- Parkinson disease type 6 (PARK6) [MIM:605909]	SWISS	335	cd07838	14165272,NP_115785
23396	78099088	Disease	p.Asp253Asn	VAR_036996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036996	- Lethal congenital contracture syndrome type 3 (LCCS3) [MIM:611369]	SWISS	257	smart00330	31317309,NP_036530
23396	78099088	Disease	p.Asp253Asn	VAR_036996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036996	- Lethal congenital contracture syndrome type 3 (LCCS3) [MIM:611369]	SWISS	587	COG5253	31317309,NP_036530
23396	78099088	Disease	p.Asp253Asn	VAR_036996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036996	- Lethal congenital contracture syndrome type 3 (LCCS3) [MIM:611369]	SWISS	270	pfam01504	31317309,NP_036530
23396	78099088	Disease	p.Asp253Asn	VAR_036996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036996	- Lethal congenital contracture syndrome type 3 (LCCS3) [MIM:611369]	SWISS	262	cd00139	31317309,NP_036530
83394	93140544	Disease	p.Gln626His	VAR_046787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046787	- Cone-rod dystrophy type 5 (CORD5) [MIM:600977]	SWISS	No Domain	N/A	190358515,NP_112497
5307	108935922	Disease	p.Glu130Lys	VAR_058113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058113	- Congenital clubfoot (CCF) [MIM:119800]	SWISS	94	COG5576	152963644,NP_002644
5307	108935922	Disease	p.Glu130Lys	VAR_058113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058113	- Congenital clubfoot (CCF) [MIM:119800]	SWISS	81	smart00389	152963644,NP_002644
5307	108935922	Disease	p.Glu130Lys	VAR_058113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058113	- Congenital clubfoot (CCF) [MIM:119800]	SWISS	51	pfam00046	152963644,NP_002644
5307	108935922	Disease	p.Glu130Lys	VAR_058113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058113	- Congenital clubfoot (CCF) [MIM:119800]	SWISS	73	cd00086	152963644,NP_002644
5308	6174907	Disease	p.Leu100Gln	VAR_003763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003763	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	66	COG5576	24234708,NP_700475
5308	6174907	Disease	p.Leu100Gln	VAR_003763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003763	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	15	pfam00046	24234708,NP_700475
5308	6174907	Disease	p.Leu100Gln	VAR_003763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003763	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	20	smart00389	24234708,NP_700475
5308	6174907	Disease	p.Leu100Gln	VAR_003763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003763	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	15	cd00086	24234708,NP_700475
5308	6174907	Disease	p.Arg108His	VAR_035027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035027	- Ring dermoid of cornea (RDC) [MIM:180550]	SWISS	74	COG5576	24234708,NP_700475
5308	6174907	Disease	p.Arg108His	VAR_035027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035027	- Ring dermoid of cornea (RDC) [MIM:180550]	SWISS	28	pfam00046	24234708,NP_700475
5308	6174907	Disease	p.Arg108His	VAR_035027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035027	- Ring dermoid of cornea (RDC) [MIM:180550]	SWISS	31	smart00389	24234708,NP_700475
5308	6174907	Disease	p.Arg108His	VAR_035027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035027	- Ring dermoid of cornea (RDC) [MIM:180550]	SWISS	34	cd00086	24234708,NP_700475
5308	6174907	Disease	p.Pro110Leu	VAR_058735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058735	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	76	COG5576	24234708,NP_700475
5308	6174907	Disease	p.Pro110Leu	VAR_058735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058735	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	30	pfam00046	24234708,NP_700475
5308	6174907	Disease	p.Pro110Leu	VAR_058735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058735	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	44	smart00389	24234708,NP_700475
5308	6174907	Disease	p.Pro110Leu	VAR_058735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058735	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	36	cd00086	24234708,NP_700475
5308	6174907	Disease	p.Pro110Arg	VAR_058736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058736	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	76	COG5576	24234708,NP_700475
5308	6174907	Disease	p.Pro110Arg	VAR_058736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058736	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	30	pfam00046	24234708,NP_700475
5308	6174907	Disease	p.Pro110Arg	VAR_058736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058736	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	44	smart00389	24234708,NP_700475
5308	6174907	Disease	p.Pro110Arg	VAR_058736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058736	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	36	cd00086	24234708,NP_700475
5308	6174907	Disease	p.Thr114Pro	VAR_003764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003764	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	80	COG5576	24234708,NP_700475
5308	6174907	Disease	p.Thr114Pro	VAR_003764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003764	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	34	pfam00046	24234708,NP_700475
5308	6174907	Disease	p.Thr114Pro	VAR_003764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003764	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	48	smart00389	24234708,NP_700475
5308	6174907	Disease	p.Thr114Pro	VAR_003764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003764	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	40	cd00086	24234708,NP_700475
5308	6174907	Disease	p.Arg115His	VAR_003765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003765	- Iridogoniodysgenesis type 2 (IRID2) [MIM:137600]	SWISS	81	COG5576	24234708,NP_700475
5308	6174907	Disease	p.Arg115His	VAR_003765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003765	- Iridogoniodysgenesis type 2 (IRID2) [MIM:137600]	SWISS	35	pfam00046	24234708,NP_700475
5308	6174907	Disease	p.Arg115His	VAR_003765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003765	- Iridogoniodysgenesis type 2 (IRID2) [MIM:137600]	SWISS	49	smart00389	24234708,NP_700475
5308	6174907	Disease	p.Arg115His	VAR_003765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003765	- Iridogoniodysgenesis type 2 (IRID2) [MIM:137600]	SWISS	41	cd00086	24234708,NP_700475
5308	6174907	Disease	p.Val129Leu	VAR_035029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035029	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	97	COG5576	24234708,NP_700475
5308	6174907	Disease	p.Val129Leu	VAR_035029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035029	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	54	pfam00046	24234708,NP_700475
5308	6174907	Disease	p.Val129Leu	VAR_035029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035029	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	84	smart00389	24234708,NP_700475
5308	6174907	Disease	p.Val129Leu	VAR_035029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035029	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	76	cd00086	24234708,NP_700475
5308	6174907	Disease	p.Arg130Trp	VAR_003762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003762	- Iridogoniodysgenesis type 2 (IRID2) [MIM:137600]	SWISS	98	COG5576	24234708,NP_700475
5308	6174907	Disease	p.Arg130Trp	VAR_003762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003762	- Iridogoniodysgenesis type 2 (IRID2) [MIM:137600]	SWISS	55	pfam00046	24234708,NP_700475
5308	6174907	Disease	p.Arg130Trp	VAR_003762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003762	- Iridogoniodysgenesis type 2 (IRID2) [MIM:137600]	SWISS	85	smart00389	24234708,NP_700475
5308	6174907	Disease	p.Arg130Trp	VAR_003762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003762	- Iridogoniodysgenesis type 2 (IRID2) [MIM:137600]	SWISS	77	cd00086	24234708,NP_700475
5308	6174907	Disease	p.Lys134Glu	VAR_058737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058737	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	102	COG5576	24234708,NP_700475
5308	6174907	Disease	p.Lys134Glu	VAR_058737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058737	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	59	pfam00046	24234708,NP_700475
5308	6174907	Disease	p.Lys134Glu	VAR_058737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058737	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	89	smart00389	24234708,NP_700475
5308	6174907	Disease	p.Lys134Glu	VAR_058737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058737	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	81	cd00086	24234708,NP_700475
5308	6174907	Disease	p.Arg136Cys	VAR_058738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058738	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	104	COG5576	24234708,NP_700475
5308	6174907	Disease	p.Arg136Cys	VAR_058738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058738	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	61	pfam00046	24234708,NP_700475
5308	6174907	Disease	p.Arg136Cys	VAR_058738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058738	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	91	smart00389	24234708,NP_700475
5308	6174907	Disease	p.Arg136Cys	VAR_058738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058738	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	83	cd00086	24234708,NP_700475
5308	6174907	Disease	p.Arg137Pro	VAR_003766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003766	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	105	COG5576	24234708,NP_700475
5308	6174907	Disease	p.Arg137Pro	VAR_003766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003766	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	62	pfam00046	24234708,NP_700475
5308	6174907	Disease	p.Arg137Pro	VAR_003766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003766	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	92	smart00389	24234708,NP_700475
5308	6174907	Disease	p.Arg137Pro	VAR_003766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003766	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	84	cd00086	24234708,NP_700475
5308	6174907	Disease	p.Leu151Val	VAR_058739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058739	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	119	COG5576	24234708,NP_700475
5308	6174907	Disease	p.Asn154Thr	VAR_058740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058740	- Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]	SWISS	134	COG5576	24234708,NP_700475
5309	6093723	Disease	p.Ser13Asn	VAR_003767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003767	- Cataract autosomal dominant (ADC) [MIM:604219]	SWISS	No Domain	N/A	4826912,NP_005020
494513	114152117	Disease	p.Thr54Ile	VAR_027387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027387	- Deafness autosomal recessive type 59 (DFNB59) [MIM:610220]	SWISS	58_G	pfam04598	111607457,NP_001036167
494513	114152117	Disease	p.Arg183Trp	VAR_027388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027388	- Deafness autosomal recessive type 59 (DFNB59) [MIM:610220]	SWISS	221	pfam04598	111607457,NP_001036167
5310	292495072	Disease	p.Leu13Gln	VAR_011030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011030	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Pro61Leu	VAR_058760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058760	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	32	smart00013	NULL
5310	292495072	Disease	p.Pro61Leu	VAR_058760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058760	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	32	pfam01462	NULL
5310	292495072	Disease	p.Ser75Phe	VAR_011031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011031	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Ser99Ile	VAR_058762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058762	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	11	smart00370	NULL
5310	292495072	Disease	p.Ser99Ile	VAR_058762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058762	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	11	smart00369	NULL
5310	292495072	Disease	p.Trp139Cys	VAR_011032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011032	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	15	smart00082	NULL
5310	292495072	Disease	p.Gln164Arg	VAR_058763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058763	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	55	smart00082	NULL
5310	292495072	Disease	p.Gln164Arg	VAR_058763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058763	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	13	pfam01463	NULL
5310	292495072	Disease	p.Cys210Gly	VAR_058764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058764	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	100	pfam01822	NULL
5310	292495072	Disease	p.Cys210Gly	VAR_058764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058764	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	42	smart00321	NULL
5310	292495072	Disease	p.Arg324Leu	VAR_010085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010085	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	112	smart00089	NULL
5310	292495072	Disease	p.Arg324Leu	VAR_010085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010085	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	98	pfam00801	NULL
5310	292495072	Disease	p.Arg324Leu	VAR_010085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010085	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	97	cd00146	NULL
5310	292495072	Disease	p.Gly381Cys	VAR_058765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058765	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Cys508Arg	VAR_058766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058766	rs58598099 Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	94	cd03592	NULL
5310	292495072	Disease	p.Cys508Arg	VAR_058766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058766	rs58598099 Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	225	cd00037	NULL
5310	292495072	Disease	p.Cys508Arg	VAR_058766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058766	rs58598099 Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	99	cd03598	NULL
5310	292495072	Disease	p.Cys508Arg	VAR_058766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058766	rs58598099 Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	128	cd03590	NULL
5310	292495072	Disease	p.Cys508Arg	VAR_058766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058766	rs58598099 Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	108	cd03593	NULL
5310	292495072	Disease	p.Cys508Arg	VAR_058766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058766	rs58598099 Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	142	cd03589	NULL
5310	292495072	Disease	p.Cys508Arg	VAR_058766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058766	rs58598099 Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	117	cd03594	NULL
5310	292495072	Disease	p.Cys508Arg	VAR_058766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058766	rs58598099 Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	291	smart00034	NULL
5310	292495072	Disease	p.Cys508Arg	VAR_058766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058766	rs58598099 Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	111	pfam00059	NULL
5310	292495072	Disease	p.Phe594Tyr	VAR_058768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058768	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Val690Asp	VAR_058769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058769	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Leu845Ser	VAR_010086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010086	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Trp967Arg	VAR_012453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012453	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	59	pfam00801	NULL
5310	292495072	Disease	p.Trp967Arg	VAR_012453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012453	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	49	smart00089	NULL
5310	292495072	Disease	p.Trp967Arg	VAR_012453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012453	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	58	cd00146	NULL
5310	292495072	Disease	p.Gln987His	VAR_058772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058772	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	100	pfam00801	NULL
5310	292495072	Disease	p.Gln987His	VAR_058772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058772	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	114	smart00089	NULL
5310	292495072	Disease	p.Gln987His	VAR_058772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058772	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	99	cd00146	NULL
5310	292495072	Disease	p.Met1092Thr	VAR_056697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_056697	rs2549677 Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	110	smart00089	NULL
5310	292495072	Disease	p.Met1092Thr	VAR_056697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_056697	rs2549677 Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	96	pfam00801	NULL
5310	292495072	Disease	p.Met1092Thr	VAR_056697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_056697	rs2549677 Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	95	cd00146	NULL
5310	292495072	Disease	p.Gly1166Ser	VAR_011033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011033	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	65	smart00089	NULL
5310	292495072	Disease	p.Gly1166Ser	VAR_011033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011033	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	64	pfam00801	NULL
5310	292495072	Disease	p.Gly1166Ser	VAR_011033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011033	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	63	cd00146	NULL
5310	292495072	Disease	p.Thr1242Met	VAR_058775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058775	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	46	smart00089	NULL
5310	292495072	Disease	p.Thr1242Met	VAR_058775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058775	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	55	cd00146	NULL
5310	292495072	Disease	p.Thr1242Met	VAR_058775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058775	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	54	pfam00801	NULL
5310	292495072	Disease	p.Arg1340Trp	VAR_058776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058776	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	90	pfam00801	NULL
5310	292495072	Disease	p.Arg1340Trp	VAR_058776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058776	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	81	cd00146	NULL
5310	292495072	Disease	p.Arg1340Trp	VAR_058776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058776	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	97	smart00089	NULL
5310	292495072	Disease	p.Thr1667Pro	VAR_058779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058779	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	60	smart00089	NULL
5310	292495072	Disease	p.Thr1667Pro	VAR_058779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058779	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	60	pfam00801	NULL
5310	292495072	Disease	p.Thr1667Pro	VAR_058779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058779	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	59	cd00146	NULL
5310	292495072	Disease	p.Glu1811Lys	VAR_058781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058781	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	13	cd00146	NULL
5310	292495072	Disease	p.Glu1811Lys	VAR_058781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058781	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	5	pfam00801	NULL
5310	292495072	Disease	p.Glu1811Lys	VAR_058781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058781	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	10	smart00089	NULL
5310	292495072	Disease	p.Val1956Glu	VAR_011034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011034	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	140	smart00089	NULL
5310	292495072	Disease	p.Val1956Glu	VAR_011034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011034	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	137	pfam00801	NULL
5310	292495072	Disease	p.Val1956Glu	VAR_011034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011034	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	114	cd00146	NULL
5310	292495072	Disease	p.Thr2083Ile	VAR_058786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058786	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	28	smart00089	NULL
5310	292495072	Disease	p.Thr2083Ile	VAR_058786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058786	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	26	pfam00801	NULL
5310	292495072	Disease	p.Thr2083Ile	VAR_058786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058786	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	44	cd00146	NULL
5310	292495072	Disease	p.Tyr2092Cys	VAR_058787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058787	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	47	smart00089	NULL
5310	292495072	Disease	p.Tyr2092Cys	VAR_058787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058787	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	53	pfam00801	NULL
5310	292495072	Disease	p.Tyr2092Cys	VAR_058787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058787	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	56	cd00146	NULL
5310	292495072	Disease	p.Tyr2185Asp	VAR_058788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058788	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	21	pfam02010	NULL
5310	292495072	Disease	p.Arg2200Cys	VAR_058789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058789	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	36	pfam02010	NULL
5310	292495072	Disease	p.Thr2250Met	VAR_011038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011038	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	117	pfam02010	NULL
5310	292495072	Disease	p.Arg2329Trp	VAR_011039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011039	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	307	pfam02010	NULL
5310	292495072	Disease	p.Tyr2336Asp	VAR_011040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011040	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	315	pfam02010	NULL
5310	292495072	Disease	p.Cys2370Arg	VAR_058791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058791	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	358	pfam02010	NULL
5310	292495072	Disease	p.Cys2373Tyr	VAR_058792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058792	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	361	pfam02010	NULL
5310	292495072	Disease	p.Arg2392Pro	VAR_012454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012454	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	381	pfam02010	NULL
5310	292495072	Disease	p.Arg2408Cys	VAR_011042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011042	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	414	pfam02010	NULL
5310	292495072	Disease	p.Thr2422Lys	VAR_058794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058794	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	640	pfam02010	NULL
5310	292495072	Disease	p.Ser2423Phe	VAR_012455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012455	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	641	pfam02010	NULL
5310	292495072	Disease	p.Pro2471Leu	VAR_012456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012456	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	697	pfam02010	NULL
5310	292495072	Disease	p.Gln2519Leu	VAR_012457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012457	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	777	pfam02010	NULL
5310	292495072	Disease	p.His2638Arg	VAR_012462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012462	rs9936785 Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Thr2649Ile	VAR_012463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012463	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Leu2696Arg	VAR_012464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012464	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Ala2752Asp	VAR_011049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011049	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Leu2763Val	VAR_005535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005535	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Val2768Met	VAR_011052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011052	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Glu2771Lys	VAR_011053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011053	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Gly2785Asp	VAR_058796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058796	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Arg2791Gln	VAR_005537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005537	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Pro2802Leu	VAR_058797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058797	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Gly2814Arg	VAR_011055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011055	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Leu2816Pro	VAR_011056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011056	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Ile2826Thr	VAR_005538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005538	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Gly2858Ser	VAR_011057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011057	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.His2921Pro	VAR_011060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011060	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Arg2985Gly	VAR_012467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012467	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Leu2993Pro	VAR_010089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010089	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Val3008Leu	VAR_005539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005539	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Gln3016Arg	VAR_010090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010090	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	6	smart00303	NULL
5310	292495072	Disease	p.Gln3016Arg	VAR_010090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010090	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	6	pfam01825	NULL
5310	292495072	Disease	p.Arg3039Cys	VAR_012468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012468	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	42	smart00303	NULL
5310	292495072	Disease	p.Arg3039Cys	VAR_012468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012468	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	91	pfam01825	NULL
5310	292495072	Disease	p.Phe3066Leu	VAR_011063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011063	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Val3138Met	VAR_058803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058803	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	21	cd01756	NULL
5310	292495072	Disease	p.Val3138Met	VAR_058803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058803	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	62	cd01752	NULL
5310	292495072	Disease	p.Val3138Met	VAR_058803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058803	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	22	pfam01477	NULL
5310	292495072	Disease	p.Val3138Met	VAR_058803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058803	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	35	cd00113	NULL
5310	292495072	Disease	p.Val3138Met	VAR_058803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058803	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	92	smart00308	NULL
5310	292495072	Disease	p.Val3138Met	VAR_058803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058803	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	21	cd01754	NULL
5310	292495072	Disease	p.Ile3167Phe	VAR_058804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058804	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	61	cd01756	NULL
5310	292495072	Disease	p.Ile3167Phe	VAR_058804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058804	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	97	cd01752	NULL
5310	292495072	Disease	p.Ile3167Phe	VAR_058804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058804	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	60	pfam01477	NULL
5310	292495072	Disease	p.Ile3167Phe	VAR_058804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058804	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	79	cd00113	NULL
5310	292495072	Disease	p.Ile3167Phe	VAR_058804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058804	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	148	smart00308	NULL
5310	292495072	Disease	p.Ile3167Phe	VAR_058804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058804	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	59	cd01754	NULL
5310	292495072	Disease	p.Arg3247His	VAR_013838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013838	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Val3285Ile	VAR_012469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012469	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Pro3355Leu	VAR_058806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058806	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Val3375Met	VAR_005541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005541	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Thr3382Met	VAR_013839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013839	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Thr3510Met	VAR_010091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010091	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Leu3511Val	VAR_010092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010092	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Gly3560Arg	VAR_012471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012471	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Gly3602Ser	VAR_058808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058808	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Glu3632Asp	VAR_005542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005542	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Pro3649Leu	VAR_058809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058809	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Met3678Thr	VAR_005543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005543	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Leu3682Pro	VAR_058810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058810	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Arg3719Gln	VAR_011067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011067	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	9	pfam08016	NULL
5310	292495072	Disease	p.Trp3726Ser	VAR_058811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058811	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	16	pfam08016	NULL
5310	292495072	Disease	p.Gln3751Arg	VAR_058812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058812	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	58	pfam08016	NULL
5310	292495072	Disease	p.Arg3753Trp	VAR_011068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011068	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	60	pfam08016	NULL
5310	292495072	Disease	p.Asp3815Asn	VAR_011069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011069	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	163	pfam08016	NULL
5310	292495072	Disease	p.Leu3852Pro	VAR_011070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011070	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	203	pfam08016	NULL
5310	292495072	Disease	p.Ala3954Pro	VAR_058813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058813	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	308	pfam08016	NULL
5310	292495072	Disease	p.Gly4032Asp	VAR_005545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005545	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	386	pfam08016	NULL
5310	292495072	Disease	p.Arg4136Gly	VAR_010096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010096	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Arg4154Cys	VAR_010097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010097	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Phe4155Val	VAR_058818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058818	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Gln4225Pro	VAR_010099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010099	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Pro4255Ser	VAR_058819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058819	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5310	292495072	Disease	p.Arg4276Trp	VAR_010100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010100	- Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]	SWISS	No Domain	N/A	NULL
5311	116242717	Disease	p.Arg306Gln	VAR_058822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058822	- Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]	SWISS	41	pfam08016	4505835,NP_000288
5311	116242717	Disease	p.Arg322Gln	VAR_058823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058823	- Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]	SWISS	57	pfam08016	4505835,NP_000288
5311	116242717	Disease	p.Arg322Trp	VAR_058824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058824	- Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]	SWISS	57	pfam08016	4505835,NP_000288
5311	116242717	Disease	p.Ala356Pro	VAR_011073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011073	- Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]	SWISS	108	pfam08016	4505835,NP_000288
5311	116242717	Disease	p.Trp414Gly	VAR_009195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009195	- Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]	SWISS	193	pfam08016	4505835,NP_000288
5311	116242717	Disease	p.Arg420Gly	VAR_058825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058825	- Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]	SWISS	199	pfam08016	4505835,NP_000288
5311	116242717	Disease	p.Asp511Val	VAR_058827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058827	- Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]	SWISS	292	pfam08016	4505835,NP_000288
5311	116242717	Disease	p.Asp511Val	VAR_058827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058827	- Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]	SWISS	57	pfam00520	4505835,NP_000288
5311	116242717	Disease	p.Cys632Arg	VAR_058828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058828	- Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]	SWISS	415	pfam08016	4505835,NP_000288
5311	116242717	Disease	p.Cys632Arg	VAR_058828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058828	- Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]	SWISS	331	pfam00520	4505835,NP_000288
5311	116242717	Disease	p.Arg807Gln	VAR_058830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058830	- Polycystic kidney disease autosomal dominant type 2 (ADPKD2) [MIM:613095]	SWISS	No Domain	N/A	4505835,NP_000288
5314	296439717	Disease	p.Ala17Val	VAR_018520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018520	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Thr36Met	VAR_014039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014039	rs28939383 Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Ile222Val	VAR_014040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014040	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Gly223Ser	VAR_018522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018522	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Phe253Leu	VAR_014041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014041	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Ile307Thr	VAR_018523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018523	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	59	cd01179	126131102,NP_619639
5314	296439717	Disease	p.Ile307Thr	VAR_018523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018523	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	115	cd00102	126131102,NP_619639
5314	296439717	Disease	p.Ile307Thr	VAR_018523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018523	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	96	pfam01833	126131102,NP_619639
5314	296439717	Disease	p.Ile307Thr	VAR_018523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018523	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	111	cd00603	126131102,NP_619639
5314	296439717	Disease	p.Ile307Thr	VAR_018523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018523	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	76	cd01180	126131102,NP_619639
5314	296439717	Disease	p.Gly326Val	VAR_018524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018524	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	71	cd01179	126131102,NP_619639
5314	296439717	Disease	p.Gly326Val	VAR_018524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018524	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	137	cd00102	126131102,NP_619639
5314	296439717	Disease	p.Gly326Val	VAR_018524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018524	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	146	pfam01833	126131102,NP_619639
5314	296439717	Disease	p.Gly326Val	VAR_018524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018524	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	176	cd00603	126131102,NP_619639
5314	296439717	Disease	p.Gly326Val	VAR_018524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018524	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	109	cd01180	126131102,NP_619639
5314	296439717	Disease	p.Phe372Leu	VAR_027439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027439	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Ile473Ser	VAR_018527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018527	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Tyr486His	VAR_018528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018528	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Arg496Pro	VAR_018530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018530	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Trp656Cys	VAR_018532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018532	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Asp703Asn	VAR_018533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018533	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Pro739Leu	VAR_018535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018535	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Ile757Leu	VAR_018536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018536	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Arg760His	VAR_014044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014044	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Pro805Leu	VAR_018537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018537	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Thr899Pro	VAR_018539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018539	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Met997Lys	VAR_018540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018540	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	141	pfam01833	126131102,NP_619639
5314	296439717	Disease	p.Ala1030Glu	VAR_018541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018541	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	18	pfam01833	126131102,NP_619639
5314	296439717	Disease	p.Ala1030Glu	VAR_018541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018541	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	13	cd00102	126131102,NP_619639
5314	296439717	Disease	p.Ala1030Glu	VAR_018541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018541	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	12	cd00603	126131102,NP_619639
5314	296439717	Disease	p.Ala1030Glu	VAR_018541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018541	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	12	cd01180	126131102,NP_619639
5314	296439717	Disease	p.Gly1122Ser	VAR_014046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014046	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	22	pfam01833	126131102,NP_619639
5314	296439717	Disease	p.Gly1123Ser	VAR_018542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018542	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	23	pfam01833	126131102,NP_619639
5314	296439717	Disease	p.Cys1249Trp	VAR_014048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014048	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	177	smart00429	126131102,NP_619639
5314	296439717	Disease	p.Cys1249Trp	VAR_014048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014048	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	113	cd00603	126131102,NP_619639
5314	296439717	Disease	p.Cys1249Trp	VAR_014048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014048	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	117	cd00102	126131102,NP_619639
5314	296439717	Disease	p.Pro1389Thr	VAR_018546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018546	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Leu1407Arg	VAR_014050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014050	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	26	pfam01833	126131102,NP_619639
5314	296439717	Disease	p.Leu1407Arg	VAR_014050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014050	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	20	cd00603	126131102,NP_619639
5314	296439717	Disease	p.Leu1407Arg	VAR_014050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014050	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	21	cd00102	126131102,NP_619639
5314	296439717	Disease	p.Cys1472Tyr	VAR_018547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018547	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	159	pfam01833	126131102,NP_619639
5314	296439717	Disease	p.Cys1472Tyr	VAR_018547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018547	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	175	cd00603	126131102,NP_619639
5314	296439717	Disease	p.Cys1472Tyr	VAR_018547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018547	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	180	cd00102	126131102,NP_619639
5314	296439717	Disease	p.Pro1486Leu	VAR_018548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018548	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Ser1584Ile	VAR_018549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018549	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	18	pfam01833	126131102,NP_619639
5314	296439717	Disease	p.Ser1584Ile	VAR_018549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018549	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	13	cd00102	126131102,NP_619639
5314	296439717	Disease	p.Arg1624Trp	VAR_014051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014051	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	114	pfam01833	126131102,NP_619639
5314	296439717	Disease	p.Arg1624Trp	VAR_014051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014051	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	116	cd00102	126131102,NP_619639
5314	296439717	Disease	p.Ser1664Phe	VAR_014052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014052	rs28937907 Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Val1741Met	VAR_014053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014053	rs28939099 Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Thr1781Ile	VAR_018551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018551	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Val1789Leu	VAR_018552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018552	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Ser1833Leu	VAR_018553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018553	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Tyr1838Cys	VAR_018554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018554	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Ser1867Asn	VAR_018555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018555	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Gln1917Arg	VAR_014054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014054	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Asp1942Gly	VAR_018557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018557	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	25	pfam10162	126131102,NP_619639
5314	296439717	Disease	p.Gly1971Asp	VAR_018558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018558	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	69	pfam10162	126131102,NP_619639
5314	296439717	Disease	p.Glu1995Gly	VAR_014055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014055	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	98	pfam10162	126131102,NP_619639
5314	296439717	Disease	p.Ile1998Thr	VAR_018559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018559	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	102	pfam10162	126131102,NP_619639
5314	296439717	Disease	p.Val2032Leu	VAR_018560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018560	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	176	pfam10162	126131102,NP_619639
5314	296439717	Disease	p.Leu2134Pro	VAR_018561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018561	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Ile2303Phe	VAR_018562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018562	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Ile2331Lys	VAR_014056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014056	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Cys2422Gly	VAR_018563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018563	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Thr2641Ala	VAR_018565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018565	rs7766366 Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Cys2688Phe	VAR_018566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018566	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Asp2761Tyr	VAR_018567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018567	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	29	pfam10162	126131102,NP_619639
5314	296439717	Disease	p.Leu2772Pro	VAR_018568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018568	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	40	pfam10162	126131102,NP_619639
5314	296439717	Disease	p.Ser2861Gly	VAR_018569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018569	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	186	pfam10162	126131102,NP_619639
5314	296439717	Disease	p.Tyr2863Cys	VAR_018570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018570	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	200	pfam10162	126131102,NP_619639
5314	296439717	Disease	p.Ile2957Thr	VAR_014058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014058	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Asp2962Gly	VAR_018572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018572	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Ser2983Leu	VAR_018573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018573	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Ser3018Phe	VAR_014059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014059	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Val3036Gly	VAR_018574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018574	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Ile3081Val	VAR_018576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018576	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.His3124Tyr	VAR_018579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018579	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Ile3167Leu	VAR_018581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018581	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Asn3175Asp	VAR_018582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018582	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Asn3175Ser	VAR_018583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018583	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Ile3177Thr	VAR_018584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018584	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Asp3293Val	VAR_018586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018586	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Cys3346Arg	VAR_018587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018587	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Ile3468Val	VAR_018589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018589	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Val3471Gly	VAR_018590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018590	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Arg3482Cys	VAR_018591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018591	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Glu3502Val	VAR_018592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018592	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Glu3529Gln	VAR_018594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018594	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Ile3553Thr	VAR_014061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014061	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Cys3622Tyr	VAR_018596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018596	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5314	296439717	Disease	p.Pro3783Ser	VAR_018597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018597	- Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]	SWISS	No Domain	N/A	126131102,NP_619639
5313	8247933	Disease	p.Gly37Glu	VAR_011435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011435	- Pyruvate kinase hyperactivity [MIM:102900]	SWISS	No Domain	N/A	10835121,NP_000289
5313	8247933	Disease	p.Arg40Trp	VAR_058467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058467	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	No Domain	N/A	10835121,NP_000289
5313	8247933	Disease	p.Leu73Pro	VAR_058469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058469	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	No Domain	N/A	10835121,NP_000289
5313	8247933	Disease	p.Ser80Pro	VAR_011436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011436	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	No Domain	N/A	10835121,NP_000289
5313	8247933	Disease	p.Arg86Pro	VAR_011437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011437	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	2	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg86Pro	VAR_011437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011437	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	2	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Arg86Pro	VAR_011437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011437	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	5	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ile90Asn	VAR_011438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011438	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	6	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ile90Asn	VAR_011438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011438	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	6	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Ile90Asn	VAR_011438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011438	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	9	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Gly95Arg	VAR_011439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011439	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	11	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Gly95Arg	VAR_011439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011439	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	11	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Gly95Arg	VAR_011439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011439	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	14	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Met107Thr	VAR_004028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004028	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	44	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Met107Thr	VAR_004028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004028	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	44	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Met107Thr	VAR_004028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004028	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	60	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Gly111Arg	VAR_011440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011440	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	48	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Gly111Arg	VAR_011440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011440	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	48	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Gly111Arg	VAR_011440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011440	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	64	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ala115Pro	VAR_011441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011441	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	52	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ala115Pro	VAR_011441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011441	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	52	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Ala115Pro	VAR_011441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011441	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	69	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ser120Phe	VAR_011442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011442	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	57	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ser120Phe	VAR_011442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011442	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	57	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Ser120Phe	VAR_011442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011442	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	74	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ser130Tyr	VAR_011443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011443	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	67	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ser130Tyr	VAR_011443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011443	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	67	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Ser130Tyr	VAR_011443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011443	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	84	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Val134Asp	VAR_004030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004030	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	71	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Val134Asp	VAR_004030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004030	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	71	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Val134Asp	VAR_004030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004030	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	88	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ile153Thr	VAR_011474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011474	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	90	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ile153Thr	VAR_011474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011474	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	90	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Ile153Thr	VAR_011474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011474	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	102	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ala154Thr	VAR_058470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058470	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	91	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ala154Thr	VAR_058470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058470	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	91	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Ala154Thr	VAR_058470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058470	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	103	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Leu155Pro	VAR_004031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004031	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	92	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Leu155Pro	VAR_004031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004031	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	92	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Leu155Pro	VAR_004031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004031	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	104	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Gly159Val	VAR_011444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011444	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	96	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Gly159Val	VAR_011444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011444	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	96	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Gly159Val	VAR_011444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011444	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	108	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg163Cys	VAR_004033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004033	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	100	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg163Cys	VAR_004033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004033	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	100	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Arg163Cys	VAR_004033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004033	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	112	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg163Leu	VAR_058471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058471	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	100	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg163Leu	VAR_058471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058471	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	100	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Arg163Leu	VAR_058471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058471	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	112	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Gly165Val	VAR_058472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058472	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	102	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Gly165Val	VAR_058472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058472	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	102	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Gly165Val	VAR_058472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058472	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	114	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Glu172Gln	VAR_004032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004032	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	109	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Glu172Gln	VAR_004032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004032	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	110	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Glu172Gln	VAR_004032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004032	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	121	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ile219Thr	VAR_011475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011475	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	159	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ile219Thr	VAR_011475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011475	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	161	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Ile219Thr	VAR_011475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011475	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	175	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Gly222Ala	VAR_011445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011445	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	162	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Gly222Ala	VAR_011445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011445	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	164	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Gly222Ala	VAR_011445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011445	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	178	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Gly263Arg	VAR_011447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011447	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	205	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Gly263Arg	VAR_011447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011447	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	207	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Gly263Arg	VAR_011447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011447	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	225	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Gly263Trp	VAR_011448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011448	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	205	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Gly263Trp	VAR_011448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011448	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	207	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Gly263Trp	VAR_011448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011448	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	225	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Leu272Val	VAR_058473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058473	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	214	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Leu272Val	VAR_058473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058473	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	217	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Leu272Val	VAR_058473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058473	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	234	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Gly275Arg	VAR_004035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004035	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	218	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Gly275Arg	VAR_004035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004035	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	220	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Gly275Arg	VAR_004035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004035	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	237	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Asp281Asn	VAR_004036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004036	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	226	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Asp281Asn	VAR_004036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004036	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	228	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Asp281Asn	VAR_004036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004036	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	245	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Phe287Val	VAR_004037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004037	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	232	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Phe287Val	VAR_004037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004037	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	234	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Phe287Val	VAR_004037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004037	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	251	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Val288Leu	VAR_011449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011449	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	233	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Val288Leu	VAR_011449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011449	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	235	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Val288Leu	VAR_011449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011449	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	252	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Asp293Asn	VAR_011446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011446	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	238	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Asp293Asn	VAR_011446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011446	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	240	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Asp293Asn	VAR_011446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011446	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	257	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ala295Val	VAR_011450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011450	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	240	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ala295Val	VAR_011450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011450	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	242	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Ala295Val	VAR_011450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011450	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	259	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ile310Asn	VAR_011451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011451	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	256	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ile310Asn	VAR_011451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011451	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	258	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Ile310Asn	VAR_011451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011451	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	279	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ile314Thr	VAR_004038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004038	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	260	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ile314Thr	VAR_004038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004038	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	262	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Ile314Thr	VAR_004038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004038	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	283	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Glu315Lys	VAR_011452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011452	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	261	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Glu315Lys	VAR_011452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011452	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	263	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Glu315Lys	VAR_011452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011452	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	284	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Val320Leu	VAR_058474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058474	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	266	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Val320Leu	VAR_058474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058474	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	268	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Val320Leu	VAR_058474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058474	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	289	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Asp331Glu	VAR_004039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004039	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	280	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Asp331Glu	VAR_004039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004039	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	285	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Asp331Glu	VAR_004039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004039	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	305	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Asp331Asn	VAR_011453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011453	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	280	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Asp331Asn	VAR_011453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011453	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	285	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Asp331Asn	VAR_011453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011453	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	305	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Gly332Ser	VAR_004040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004040	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	281	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Gly332Ser	VAR_004040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004040	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	286	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Gly332Ser	VAR_004040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004040	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	306	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Val335Met	VAR_011476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011476	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	284	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Val335Met	VAR_011476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011476	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	289	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Val335Met	VAR_011476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011476	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	309	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ala336Ser	VAR_004041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004041	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	285	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ala336Ser	VAR_004041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004041	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	290	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Ala336Ser	VAR_004041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004041	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	310	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg337Pro	VAR_004042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004042	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	286	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg337Pro	VAR_004042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004042	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	291	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Arg337Pro	VAR_004042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004042	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	311	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg337Gln	VAR_004043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004043	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	286	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg337Gln	VAR_004043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004043	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	291	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Arg337Gln	VAR_004043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004043	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	311	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Asp339His	VAR_004044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004044	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	288	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Asp339His	VAR_004044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004044	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	293	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Asp339His	VAR_004044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004044	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	313	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Gly341Ala	VAR_004045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004045	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	290	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Gly341Ala	VAR_004045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004045	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	295	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Gly341Ala	VAR_004045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004045	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	315	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Gly341Asp	VAR_011454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011454	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	290	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Gly341Asp	VAR_011454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011454	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	295	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Gly341Asp	VAR_011454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011454	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	315	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ile342Phe	VAR_011455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011455	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	291	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ile342Phe	VAR_011455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011455	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	296	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Ile342Phe	VAR_011455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011455	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	316	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Lys348Asn	VAR_011456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011456	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	297	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Lys348Asn	VAR_011456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011456	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	302	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Lys348Asn	VAR_011456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011456	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	322	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ala352Asp	VAR_011477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011477	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	301	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ala352Asp	VAR_011477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011477	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	306	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Ala352Asp	VAR_011477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011477	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	326	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ile357Thr	VAR_004047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004047	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	306	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ile357Thr	VAR_004047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004047	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	311	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Ile357Thr	VAR_004047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004047	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	331	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Gly358Glu	VAR_058475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058475	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	307	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Gly358Glu	VAR_058475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058475	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	312	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Gly358Glu	VAR_058475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058475	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	332	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg359Cys	VAR_004048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004048	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	308	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg359Cys	VAR_004048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004048	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	313	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Arg359Cys	VAR_004048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004048	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	333	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg359His	VAR_004049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004049	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	308	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg359His	VAR_004049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004049	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	313	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Arg359His	VAR_004049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004049	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	333	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Asn361Asp	VAR_004050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004050	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	310	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Asn361Asp	VAR_004050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004050	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	315	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Asn361Asp	VAR_004050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004050	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	335	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Gly364Asp	VAR_011458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011458	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	313	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Gly364Asp	VAR_011458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011458	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	318	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Gly364Asp	VAR_011458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011458	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	338	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Val368Phe	VAR_004051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004051	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	317	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Val368Phe	VAR_004051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004051	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	322	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Val368Phe	VAR_004051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004051	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	342	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Leu374Pro	VAR_058476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058476	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	323	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Leu374Pro	VAR_058476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058476	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	328	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Leu374Pro	VAR_058476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058476	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	348	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ser376Ile	VAR_011459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011459	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	325	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ser376Ile	VAR_011459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011459	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	330	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Ser376Ile	VAR_011459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011459	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	350	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Thr384Met	VAR_004052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004052	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	333	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Thr384Met	VAR_004052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004052	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	338	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Thr384Met	VAR_004052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004052	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	358	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg385Trp	VAR_011478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011478	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	334	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg385Trp	VAR_011478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011478	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	339	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Arg385Trp	VAR_011478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011478	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	359	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Glu387Gly	VAR_011460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011460	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	336	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Glu387Gly	VAR_011460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011460	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	341	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Glu387Gly	VAR_011460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011460	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	361	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Asp390Asn	VAR_011461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011461	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	339	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Asp390Asn	VAR_011461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011461	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	344	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Asp390Asn	VAR_011461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011461	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	364	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ala392Thr	VAR_004053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004053	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	341	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ala392Thr	VAR_004053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004053	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	346	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Ala392Thr	VAR_004053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004053	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	368	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Asn393Lys	VAR_004054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004054	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	342	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Asn393Lys	VAR_004054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004054	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	347	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Asn393Lys	VAR_004054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004054	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	369	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Asn393Ser	VAR_004055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004055	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	342	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Asn393Ser	VAR_004055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004055	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	347	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Asn393Ser	VAR_004055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004055	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	369	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ala394Asp	VAR_011462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011462	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	343	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ala394Asp	VAR_011462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011462	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	348	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Ala394Asp	VAR_011462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011462	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	370	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ala394Val	VAR_011463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011463	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	343	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ala394Val	VAR_011463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011463	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	348	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Ala394Val	VAR_011463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011463	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	370	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Thr408Ala	VAR_011464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011464	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	357	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Thr408Ala	VAR_011464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011464	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	362	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Thr408Ala	VAR_011464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011464	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	387	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Thr408Ile	VAR_004057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004057	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	357	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Thr408Ile	VAR_004057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004057	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	362	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Thr408Ile	VAR_004057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004057	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	387	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Gln421Lys	VAR_004058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004058	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	370	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Gln421Lys	VAR_004058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004058	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	375	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Gln421Lys	VAR_004058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004058	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	402	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg426Gln	VAR_004059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004059	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	375	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg426Gln	VAR_004059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004059	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	380	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Arg426Gln	VAR_004059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004059	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	407	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg426Trp	VAR_004060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004060	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	375	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg426Trp	VAR_004060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004060	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	380	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Arg426Trp	VAR_004060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004060	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	407	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Glu427Ala	VAR_011465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011465	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	376	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Glu427Ala	VAR_011465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011465	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	381	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Glu427Ala	VAR_011465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011465	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	408	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Glu427Asp	VAR_011466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011466	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	376	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Glu427Asp	VAR_011466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011466	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	381	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Glu427Asp	VAR_011466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011466	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	408	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ala431Thr	VAR_004061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004061	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	380	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ala431Thr	VAR_004061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004061	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	385	pfam00224	10835121,NP_000289
5313	8247933	Disease	p.Ala431Thr	VAR_004061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004061	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	412	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Gly458Asp	VAR_004062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004062	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	407	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Gly458Asp	VAR_004062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004062	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	7	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Gly458Asp	VAR_004062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004062	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	451	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ala459Val	VAR_004063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004063	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	408	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ala459Val	VAR_004063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004063	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	8	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Ala459Val	VAR_004063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004063	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	452	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Val460Met	VAR_004064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004064	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	409	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Val460Met	VAR_004064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004064	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	9	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Val460Met	VAR_004064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004064	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	453	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ala468Gly	VAR_011479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011479	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	418	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ala468Gly	VAR_011479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011479	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	23	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Ala468Gly	VAR_011479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011479	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	468	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ala468Val	VAR_004065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004065	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	418	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ala468Val	VAR_004065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004065	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	23	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Ala468Val	VAR_004065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004065	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	468	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Thr477Ala	VAR_011467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011467	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	427	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Thr477Ala	VAR_011467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011467	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	32	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Thr477Ala	VAR_011467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011467	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	477	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg479His	VAR_011480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011480	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	429	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg479His	VAR_011480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011480	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	34	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Arg479His	VAR_011480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011480	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	479	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ser485Phe	VAR_011468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011468	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	435	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ser485Phe	VAR_011468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011468	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	40	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Ser485Phe	VAR_011468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011468	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	485	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg486Trp	VAR_004066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004066	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	436	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg486Trp	VAR_004066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004066	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	41	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Arg486Trp	VAR_004066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004066	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	486	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg488Gln	VAR_011469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011469	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	438	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg488Gln	VAR_011469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011469	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	47	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Arg488Gln	VAR_011469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011469	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	488	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg490Trp	VAR_004067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004067	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	440	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg490Trp	VAR_004067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004067	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	51	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Arg490Trp	VAR_004067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004067	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	490	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ala495Thr	VAR_011470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011470	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	445	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ala495Thr	VAR_011470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011470	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	60	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Ala495Thr	VAR_011470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011470	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	496	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Ala495Val	VAR_004068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004068	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	445	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Ala495Val	VAR_004068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004068	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	60	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Ala495Val	VAR_004068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004068	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	496	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg498Cys	VAR_004069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004069	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	448	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg498Cys	VAR_004069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004069	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	64	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Arg498Cys	VAR_004069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004069	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	499	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg498His	VAR_004070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004070	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	448	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg498His	VAR_004070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004070	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	64	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Arg498His	VAR_004070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004070	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	499	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg504Leu	VAR_011471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011471	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	467	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg504Leu	VAR_011471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011471	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	138	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Arg504Leu	VAR_011471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011471	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	505	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg510Gln	VAR_004071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004071	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	473	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg510Gln	VAR_004071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004071	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	154	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Arg510Gln	VAR_004071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004071	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	511	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Gly511Arg	VAR_011472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011472	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	474	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Gly511Arg	VAR_011472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011472	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	155	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Gly511Arg	VAR_011472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011472	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	512	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg531Cys	VAR_011473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011473	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	498	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg531Cys	VAR_011473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011473	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	214	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Arg531Cys	VAR_011473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011473	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	532	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg532Gln	VAR_004072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004072	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	499	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg532Gln	VAR_004072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004072	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	215	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Arg532Gln	VAR_004072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004072	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	533	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg532Trp	VAR_004073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004073	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	499	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg532Trp	VAR_004073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004073	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	215	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Arg532Trp	VAR_004073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004073	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	533	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Val552Met	VAR_004074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004074	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	519	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Val552Met	VAR_004074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004074	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	268	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Val552Met	VAR_004074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004074	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	554	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Gly557Ala	VAR_011481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011481	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	524	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Gly557Ala	VAR_011481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011481	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	273	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Gly557Ala	VAR_011481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011481	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	559	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg559Gly	VAR_004075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004075	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	526	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg559Gly	VAR_004075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004075	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	275	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Arg559Gly	VAR_004075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004075	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	562	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Asn566Lys	VAR_004076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004076	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	534	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Asn566Lys	VAR_004076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004076	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	288	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Asn566Lys	VAR_004076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004076	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	571	COG0469	10835121,NP_000289
5313	8247933	Disease	p.Arg569Gln	VAR_011482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011482	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	537	cd00288	10835121,NP_000289
5313	8247933	Disease	p.Arg569Gln	VAR_011482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011482	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	291	pfam02887	10835121,NP_000289
5313	8247933	Disease	p.Arg569Gln	VAR_011482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011482	- Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]	SWISS	574	COG0469	10835121,NP_000289
5318	296452867	Disease	p.Ser140Phe	VAR_021148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021148	- Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040]	SWISS	No Domain	N/A	148664226,NP_004563
5318	296452867	Disease	p.Ser615Phe	VAR_021149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021149	- Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040]	SWISS	65	smart00185	148664226,NP_004563
5318	296452867	Disease	p.Lys654Gln	VAR_021150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021150	- Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040]	SWISS	No Domain	N/A	148664226,NP_004563
5318	296452867	Disease	p.Cys796Arg	VAR_021151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021151	- Familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040]	SWISS	201	cd00020	148664226,NP_004563
8398	6685712	Disease	p.Val310Glu	VAR_029371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029371	- Infantile neuroaxonal dystrophy 1 (INAD1) [MIM:256600]	SWISS	57	cd00204	52486194,NP_003551
8398	6685712	Disease	p.Val310Glu	VAR_029371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029371	- Infantile neuroaxonal dystrophy 1 (INAD1) [MIM:256600]	SWISS	292	COG0666	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	VAR_029372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029372	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	76	cd07217	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	VAR_029372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029372	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	87	cd07215	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	VAR_029372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029372	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	99	COG3621	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	VAR_029372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029372	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	103	cd07211	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	VAR_029372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029372	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	67	cd07212	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	VAR_029372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029372	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	105	cd07199	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	VAR_029372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029372	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	74	cd07207	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	VAR_029372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029372	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	81	cd07213	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	VAR_029372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029372	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	157	pfam01734	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	VAR_029372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029372	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	93	cd07214	52486194,NP_003551
8398	6685712	Disease	p.Lys545Thr	VAR_029372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029372	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	94	cd07216	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	VAR_029373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029373	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	179	cd07217	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	VAR_029373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029373	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	168	cd07215	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	VAR_029373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029373	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	180	COG3621	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	VAR_029373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029373	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	400	cd07211	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	VAR_029373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029373	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	171	cd07212	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	VAR_029373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029373	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	333	cd07199	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	VAR_029373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029373	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	387	cd07207	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	VAR_029373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029373	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	198	cd07213	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	VAR_029373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029373	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	505	pfam01734	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	VAR_029373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029373	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	230_G	cd07214	52486194,NP_003551
8398	6685712	Disease	p.Arg632Trp	VAR_029373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029373	- Neurodegeneration with brain iron accumulation type 2 (NBIA2) [MIM:610217]	SWISS	311	cd07216	52486194,NP_003551
8398	6685712	Disease	p.Arg741Gln	VAR_062530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062530	- Dystonia-parkinsonism Paisan-Ruiz type (DYTPR) [MIM:612953]	SWISS	307	cd07217	52486194,NP_003551
8398	6685712	Disease	p.Arg741Gln	VAR_062530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062530	- Dystonia-parkinsonism Paisan-Ruiz type (DYTPR) [MIM:612953]	SWISS	274	cd07215	52486194,NP_003551
8398	6685712	Disease	p.Arg741Gln	VAR_062530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062530	- Dystonia-parkinsonism Paisan-Ruiz type (DYTPR) [MIM:612953]	SWISS	318	COG3621	52486194,NP_003551
8398	6685712	Disease	p.Arg741Gln	VAR_062530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062530	- Dystonia-parkinsonism Paisan-Ruiz type (DYTPR) [MIM:612953]	SWISS	550_G	cd07211	52486194,NP_003551
8398	6685712	Disease	p.Arg741Gln	VAR_062530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062530	- Dystonia-parkinsonism Paisan-Ruiz type (DYTPR) [MIM:612953]	SWISS	291	cd07212	52486194,NP_003551
8398	6685712	Disease	p.Arg741Gln	VAR_062530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062530	- Dystonia-parkinsonism Paisan-Ruiz type (DYTPR) [MIM:612953]	SWISS	514	cd07199	52486194,NP_003551
8398	6685712	Disease	p.Arg741Gln	VAR_062530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062530	- Dystonia-parkinsonism Paisan-Ruiz type (DYTPR) [MIM:612953]	SWISS	330_G	cd07213	52486194,NP_003551
8398	6685712	Disease	p.Arg741Gln	VAR_062530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062530	- Dystonia-parkinsonism Paisan-Ruiz type (DYTPR) [MIM:612953]	SWISS	353_G	cd07214	52486194,NP_003551
8398	6685712	Disease	p.Arg741Gln	VAR_062530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062530	- Dystonia-parkinsonism Paisan-Ruiz type (DYTPR) [MIM:612953]	SWISS	428	cd07216	52486194,NP_003551
8398	6685712	Disease	p.Arg747Trp	VAR_062531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062531	- Dystonia-parkinsonism Paisan-Ruiz type (DYTPR) [MIM:612953]	SWISS	320	cd07217	52486194,NP_003551
8398	6685712	Disease	p.Arg747Trp	VAR_062531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062531	- Dystonia-parkinsonism Paisan-Ruiz type (DYTPR) [MIM:612953]	SWISS	280	cd07215	52486194,NP_003551
8398	6685712	Disease	p.Arg747Trp	VAR_062531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062531	- Dystonia-parkinsonism Paisan-Ruiz type (DYTPR) [MIM:612953]	SWISS	324	COG3621	52486194,NP_003551
8398	6685712	Disease	p.Arg747Trp	VAR_062531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062531	- Dystonia-parkinsonism Paisan-Ruiz type (DYTPR) [MIM:612953]	SWISS	555_G	cd07211	52486194,NP_003551
8398	6685712	Disease	p.Arg747Trp	VAR_062531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062531	- Dystonia-parkinsonism Paisan-Ruiz type (DYTPR) [MIM:612953]	SWISS	297	cd07212	52486194,NP_003551
8398	6685712	Disease	p.Arg747Trp	VAR_062531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062531	- Dystonia-parkinsonism Paisan-Ruiz type (DYTPR) [MIM:612953]	SWISS	520	cd07199	52486194,NP_003551
8398	6685712	Disease	p.Arg747Trp	VAR_062531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062531	- Dystonia-parkinsonism Paisan-Ruiz type (DYTPR) [MIM:612953]	SWISS	336	cd07213	52486194,NP_003551
8398	6685712	Disease	p.Arg747Trp	VAR_062531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062531	- Dystonia-parkinsonism Paisan-Ruiz type (DYTPR) [MIM:612953]	SWISS	354	cd07214	52486194,NP_003551
8398	6685712	Disease	p.Arg747Trp	VAR_062531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062531	- Dystonia-parkinsonism Paisan-Ruiz type (DYTPR) [MIM:612953]	SWISS	434	cd07216	52486194,NP_003551
7941	2497687	Disease	p.Val279Phe	VAR_004268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004268	rs16874954 Platelet-activating factor acetylhydrolase deficiency (PLA2G7 deficiency) [MIM:601690]	SWISS	275	pfam03403	270133071,NP_001161829|189095271,NP_005075
7941	2497687	Disease	p.Gln281Arg	VAR_011585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011585	- Platelet-activating factor acetylhydrolase deficiency (PLA2G7 deficiency) [MIM:601690]	SWISS	284	pfam03403	270133071,NP_001161829|189095271,NP_005075
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	445	pfam00388	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	96	cd08623	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	232	cd08558	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	94	cd08633	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	94	cd08629	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	96	cd08625	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	100	cd08591	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	94	cd08628	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	96	cd08624	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	94	cd08630	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	94	cd08595	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	226	cd08598	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	103	cd08599	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	94	cd08596	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	94	cd08631	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	103	cd00137	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	94	cd08632	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	97	cd08626	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	101	cd08592	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	96	cd08597	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	94	cd08593	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	94	cd08594	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	137	smart00148	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	94	cd08627	117168250,NP_057425
51196	118595723	Disease	p.Ser1484Leu	VAR_029883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029883	- Nephrotic syndrome type 3 (NPHS3) [MIM:610725]	SWISS	154	cd08555	117168250,NP_057425
5339	209572726	Disease	p.Arg2110Trp	VAR_015817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015817	- Epidermolysis bullosa simplex Ogna type (O-EBS) [MIM:131950]	SWISS	No Domain	N/A	41322916,NP_958782
57449	160014162	Disease	p.Phe703Ser	VAR_035357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035357	- Distal spinal muscular atrophy autosomal recessive type 4 (DSMA4) [MIM:611067]	SWISS	293	cd00821	111154078,NP_001036128
57449	160014162	Disease	p.Phe703Ser	VAR_035357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035357	- Distal spinal muscular atrophy autosomal recessive type 4 (DSMA4) [MIM:611067]	SWISS	240	pfam00169	111154078,NP_001036128
57449	160014162	Disease	p.Phe703Ser	VAR_035357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035357	- Distal spinal muscular atrophy autosomal recessive type 4 (DSMA4) [MIM:611067]	SWISS	665	smart00233	111154078,NP_001036128
5340	130316	Disease	p.Lys38Glu	VAR_018657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018657	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	28	pfam00024	4505881,NP_000292
5340	130316	Disease	p.Lys38Glu	VAR_018657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018657	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	27	cd01099	4505881,NP_000292
5340	130316	Disease	p.Lys38Glu	VAR_018657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018657	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	25	smart00473	4505881,NP_000292
5340	130316	Disease	p.Leu147Pro	VAR_018658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018658	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	59	cd00108	4505881,NP_000292
5340	130316	Disease	p.Leu147Pro	VAR_018658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018658	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	46	pfam00051	4505881,NP_000292
5340	130316	Disease	p.Leu147Pro	VAR_018658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018658	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	55	smart00130	4505881,NP_000292
5340	130316	Disease	p.Arg235His	VAR_018659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018659	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	55	pfam00051	4505881,NP_000292
5340	130316	Disease	p.Arg235His	VAR_018659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018659	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	65	cd00108	4505881,NP_000292
5340	130316	Disease	p.Arg235His	VAR_018659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018659	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	61	smart00130	4505881,NP_000292
5340	130316	Disease	p.Val374Phe	VAR_006627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006627	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	No Domain	N/A	4505881,NP_000292
5340	130316	Disease	p.Arg532His	VAR_018660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018660	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	55	pfam00051	4505881,NP_000292
5340	130316	Disease	p.Arg532His	VAR_018660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018660	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	61	smart00130	4505881,NP_000292
5340	130316	Disease	p.Arg532His	VAR_018660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018660	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	65	cd00108	4505881,NP_000292
5340	130316	Disease	p.Ser591Pro	VAR_006628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006628	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	18	smart00020	4505881,NP_000292
5340	130316	Disease	p.Ser591Pro	VAR_006628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006628	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	15	cd00190	4505881,NP_000292
5340	130316	Disease	p.Ser591Pro	VAR_006628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006628	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	11	pfam00089	4505881,NP_000292
5340	130316	Disease	p.Ala620Thr	VAR_006629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006629	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	64	smart00020	4505881,NP_000292
5340	130316	Disease	p.Ala620Thr	VAR_006629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006629	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	58	cd00190	4505881,NP_000292
5340	130316	Disease	p.Ala620Thr	VAR_006629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006629	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	55	pfam00089	4505881,NP_000292
5340	130316	Disease	p.Gly751Arg	VAR_006630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006630	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	476	smart00020	4505881,NP_000292
5340	130316	Disease	p.Gly751Arg	VAR_006630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006630	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	322	cd00190	4505881,NP_000292
5340	130316	Disease	p.Gly751Arg	VAR_006630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006630	- Plasminogen deficiency (PLGD) [MIM:217090]	SWISS	275	pfam00089	4505881,NP_000292
5350	130774	Disease	p.Arg9Cys	VAR_025989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025989	- Cardiomyopathy dilated type 1P (CMD1P) [MIM:609909]	SWISS	9	pfam04272	4505887,NP_002658
5351	78099790	Disease	p.Trp446Gly	VAR_023466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023466	- Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400]	SWISS	No Domain	N/A	32307144,NP_000293
5351	78099790	Disease	p.Trp612Cys	VAR_006355	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006355	- Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400]	SWISS	94	smart00702	32307144,NP_000293
5351	78099790	Disease	p.Ala667Thr	VAR_023467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023467	- Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400]	SWISS	279	smart00702	32307144,NP_000293
5351	78099790	Disease	p.Ala667Thr	VAR_023467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023467	- Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400]	SWISS	73	pfam03171	32307144,NP_000293
5351	78099790	Disease	p.Gly678Arg	VAR_006356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006356	- Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400]	SWISS	317	smart00702	32307144,NP_000293
5351	78099790	Disease	p.Gly678Arg	VAR_006356	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006356	- Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400]	SWISS	87	pfam03171	32307144,NP_000293
5351	78099790	Disease	p.His706Arg	VAR_023468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023468	- Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400]	SWISS	404	smart00702	32307144,NP_000293
5351	78099790	Disease	p.His706Arg	VAR_023468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023468	- Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400]	SWISS	149	pfam03171	32307144,NP_000293
5352	62906878	Disease	p.Arg598His	VAR_022164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022164	- Bruck syndrome type 2 (BRKS2) [MIM:609220]	SWISS	49	smart00702	62739166,NP_000926
5352	62906878	Disease	p.Gly601Val	VAR_022165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022165	- Bruck syndrome type 2 (BRKS2) [MIM:609220]	SWISS	53	smart00702	62739166,NP_000926
5352	62906878	Disease	p.Thr608Ile	VAR_022166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022166	- Bruck syndrome type 2 (BRKS2) [MIM:609220]	SWISS	72	smart00702	62739166,NP_000926
8985	6093731	Disease	p.Asn223Ser	VAR_054913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054913	- Lysyl hydroxylase 3 deficiency (LH3 deficiency) [MIM:612394]	SWISS	No Domain	N/A	4505891,NP_001075
5354	41393531	Disease	p.Pro15Leu	VAR_004546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004546	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	14	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Leu31Pro	VAR_015014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015014	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	30	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Phe32Leu	VAR_015015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015015	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	31	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Phe32Val	VAR_015016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015016	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	31	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Cys33Tyr	VAR_046906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046906	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	32	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Cys35Arg	VAR_046907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046907	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	34	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Cys35Tyr	VAR_015017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015017	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	34	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Ala39Thr	VAR_015018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015018	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	38	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Thr43Ile	VAR_004547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004547	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	42	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Leu46Arg	VAR_015020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015020	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	45	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Tyr50Cys	VAR_046908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046908	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	49	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Phe51Ser	VAR_015021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015021	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	50	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Tyr60Cys	VAR_015022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015022	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	61	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Gly74Arg	VAR_004548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004548	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	75	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Ala76Pro	VAR_046909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046909	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	77	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Thr116Lys	VAR_015023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015023	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	117	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.His130Tyr	VAR_015024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015024	- Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920]	SWISS	131	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Arg137Trp	VAR_046910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046910	- Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920]	SWISS	139	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.His140Tyr	VAR_004551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004551	- Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920]	SWISS	142	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Lys151Asn	VAR_015026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015026	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	153	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Thr156Ile	VAR_004552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004552	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	158	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Val162Glu	VAR_046911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046911	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	164	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Trp163Arg	VAR_004553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004553	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	165	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Val166Glu	VAR_004554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004554	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	168	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Cys169Arg	VAR_015028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015028	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	171	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Ser170Phe	VAR_015029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015029	- Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920]	SWISS	172	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Ser170Pro	VAR_046912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046912	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	172	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Val172Ala	VAR_015030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015030	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	174	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Pro173Ser	VAR_046913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046913	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	175	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Tyr175Cys	VAR_015031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015031	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	180	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Trp181Cys	VAR_015032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015032	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	3	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Trp181Cys	VAR_015032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015032	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	186	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Thr182Pro	VAR_004555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004555	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	4	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Thr182Pro	VAR_004555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004555	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	187	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Thr183Asn	VAR_015033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015033	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	5	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Thr183Asn	VAR_015033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015033	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	188	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Ile187Thr	VAR_004556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004556	- Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920]	SWISS	9	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Ile187Thr	VAR_004556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004556	- Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920]	SWISS	192	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Asp203Glu	VAR_015034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015034	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	27	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Asp203Glu	VAR_015034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015034	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	209	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Asp203Gly	VAR_015035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015035	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	27	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Asp203Gly	VAR_015035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015035	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	209	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Asp203His	VAR_004557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004557	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	27	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Asp203His	VAR_004557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004557	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	209	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Asp203Asn	VAR_015036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015036	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	27	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Asp203Asn	VAR_015036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015036	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	209	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Asp203Val	VAR_007956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007956	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	27	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Asp203Val	VAR_007956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007956	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	209	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Arg205Gly	VAR_015037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015037	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	29	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Arg205Gly	VAR_015037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015037	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	211	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Tyr207Cys	VAR_015038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015038	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	31	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Tyr207Cys	VAR_015038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015038	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	213	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Val209Asp	VAR_015039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015039	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	33	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Val209Asp	VAR_015039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015039	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	215	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Leu210His	VAR_015040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015040	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	34	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Leu210His	VAR_015040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015040	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	216	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Pro211Leu	VAR_015041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015041	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	35	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Pro211Leu	VAR_015041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015041	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	217	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Trp212Arg	VAR_015042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015042	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	36	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Trp212Arg	VAR_015042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015042	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	218	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Pro216Ala	VAR_015043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015043	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	40	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Pro216Ala	VAR_015043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015043	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	222	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Pro216Leu	VAR_046914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046914	- Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920]	SWISS	40	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Pro216Leu	VAR_046914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046914	- Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920]	SWISS	222	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Pro216Ser	VAR_004558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004558	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	40	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Pro216Ser	VAR_004558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004558	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	222	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Gly217Ser	VAR_004559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004559	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	41	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Gly217Ser	VAR_004559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004559	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	223	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Val219Phe	VAR_004560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004560	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	43	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Val219Phe	VAR_004560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004560	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	225	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Cys220Tyr	VAR_015044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015044	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	44	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Cys220Tyr	VAR_015044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015044	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	226	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Gly221Cys	VAR_004561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004561	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	45	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Gly221Cys	VAR_004561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004561	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	227	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Leu224Pro	VAR_004562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004562	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	50	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Leu224Pro	VAR_004562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004562	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	232	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Leu225Pro	VAR_046915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046915	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	51	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Leu225Pro	VAR_046915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046915	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	233	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Ser226Pro	VAR_015046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015046	- Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920]	SWISS	52	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Ser226Pro	VAR_015046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015046	- Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920]	SWISS	234	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Cys228Tyr	VAR_015047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015047	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	54	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Cys228Tyr	VAR_015047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015047	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	236	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Gln234Pro	VAR_015048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015048	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	60	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Gln234Pro	VAR_015048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015048	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	242	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Phe237Ser	VAR_004563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004563	- Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920]	SWISS	63	smart00002	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Phe237Ser	VAR_004563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004563	- Spastic paraplegia X-linked type 2 (SPG2) [MIM:312920]	SWISS	245	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Leu239Pro	VAR_046916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046916	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	247	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Ala242Pro	VAR_015049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015049	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	250	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Ala243Glu	VAR_046917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046917	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	251	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Ala243Val	VAR_046918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046918	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	251	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Gly246Ala	VAR_046919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046919	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	254	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Gly246Glu	VAR_015050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015050	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	254	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Ala247Thr	VAR_046920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046920	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	255	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Ala248Glu	VAR_015051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015051	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	256	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Ala249Pro	VAR_004565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004565	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	257	pfam01275	192449447,NP_001122306|41349499,NP_000524
5354	41393531	Disease	p.Ser253Phe	VAR_015052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015052	- Leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]	SWISS	261	pfam01275	192449447,NP_001122306|41349499,NP_000524
5373	3024413	Disease	p.Cys9Tyr	VAR_022469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022469	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	2	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Cys9Tyr	VAR_022469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022469	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	6	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Phe11Cys	VAR_022470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022470	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	4	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Phe11Cys	VAR_022470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022470	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	8	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Gly15Glu	VAR_022471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022471	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	8	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Gly15Glu	VAR_022471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022471	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	12	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Pro20Ser	VAR_022472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022472	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	13	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Pro20Ser	VAR_022472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022472	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	17	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Leu32Arg	VAR_022473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022473	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	222	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Leu32Arg	VAR_022473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022473	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	44	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Leu32Arg	VAR_022473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022473	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	4	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Gln37His	VAR_022474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022474	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	227	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Gln37His	VAR_022474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022474	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	52	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Gln37His	VAR_022474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022474	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	10	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Val44Ala	VAR_006093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006093	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	238	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Val44Ala	VAR_006093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006093	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	59	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Val44Ala	VAR_006093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006093	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	17	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Val44Leu	VAR_022563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022563	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	238	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Val44Leu	VAR_022563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022563	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	59	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Val44Leu	VAR_022563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022563	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	17	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Tyr64Cys	VAR_022476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022476	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	308	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Tyr64Cys	VAR_022476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022476	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	84	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Tyr64Cys	VAR_022476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022476	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	61	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Asp65Tyr	VAR_006094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006094	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	309	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Asp65Tyr	VAR_006094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006094	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	85	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Asp65Tyr	VAR_006094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006094	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	62	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Val67Met	VAR_022477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022477	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	311	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Val67Met	VAR_022477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022477	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	87	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Val67Met	VAR_022477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022477	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	64	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Pro69Ser	VAR_022478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022478	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	313	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Pro69Ser	VAR_022478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022478	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	89	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Pro69Ser	VAR_022478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022478	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	66	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Tyr76Cys	VAR_022479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022479	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	320	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Tyr76Cys	VAR_022479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022479	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	96	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Tyr76Cys	VAR_022479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022479	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	73	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Glu93Ala	VAR_022480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022480	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	337	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Glu93Ala	VAR_022480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022480	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	129	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Glu93Ala	VAR_022480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022480	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	90	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Asn101Lys	VAR_006095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006095	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	345	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Asn101Lys	VAR_006095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006095	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	143	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Asn101Lys	VAR_006095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006095	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	98	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Cys103Phe	VAR_022481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022481	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	347	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Cys103Phe	VAR_022481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022481	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	145	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Cys103Phe	VAR_022481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022481	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	100	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Leu104Val	VAR_012344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012344	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	348	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Leu104Val	VAR_012344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012344	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	146	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Leu104Val	VAR_012344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012344	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	101	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Tyr106Cys	VAR_006096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006096	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	350	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Tyr106Cys	VAR_006096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006096	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	148	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Tyr106Cys	VAR_006096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006096	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	103	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Ala108Val	VAR_006097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006097	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	352	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Ala108Val	VAR_006097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006097	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	150	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Ala108Val	VAR_006097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006097	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	105	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Pro113Leu	VAR_006098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006098	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	357	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Pro113Leu	VAR_006098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006098	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	155	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Pro113Leu	VAR_006098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006098	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	110	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Gly117Arg	VAR_006099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006099	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	361	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Gly117Arg	VAR_006099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006099	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	159	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Gly117Arg	VAR_006099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006099	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	114	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Phe119Leu	VAR_006100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006100	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	363	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Phe119Leu	VAR_006100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006100	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	178	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Phe119Leu	VAR_006100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006100	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	116	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Ile120Thr	VAR_022482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022482	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	364	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Ile120Thr	VAR_022482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022482	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	179	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Ile120Thr	VAR_022482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022482	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	117	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Arg123Gln	VAR_006101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006101	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	367	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Arg123Gln	VAR_006101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006101	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	182	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Arg123Gln	VAR_006101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006101	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	120	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Val129Met	VAR_006102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006102	rs28938475 Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	411	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Val129Met	VAR_006102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006102	rs28938475 Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	188	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Val129Met	VAR_006102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006102	rs28938475 Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	126	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Pro131Ala	VAR_006103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006103	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	413	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Pro131Ala	VAR_006103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006103	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	190	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Pro131Ala	VAR_006103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006103	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	128	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Ile132Phe	VAR_022483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022483	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	414	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Ile132Phe	VAR_022483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022483	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	191	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Ile132Phe	VAR_022483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022483	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	129	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Ile132Asn	VAR_022484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022484	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	414	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Ile132Asn	VAR_022484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022484	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	191	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Ile132Asn	VAR_022484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022484	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	129	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Ile132Thr	VAR_006104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006104	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	414	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Ile132Thr	VAR_006104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006104	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	191	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Ile132Thr	VAR_006104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006104	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	129	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Glu139Lys	VAR_009232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009232	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	421	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Glu139Lys	VAR_009232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009232	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	198	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Glu139Lys	VAR_009232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009232	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	136	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Arg141Cys	VAR_022485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022485	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	423	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Arg141Cys	VAR_022485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022485	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	200	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Arg141Cys	VAR_022485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022485	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	138	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Arg141His	VAR_006105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006105	rs28936415 Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	423	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Arg141His	VAR_006105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006105	rs28936415 Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	200	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Arg141His	VAR_006105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006105	rs28936415 Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	138	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Phe144Leu	VAR_022486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022486	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	426	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Phe144Leu	VAR_022486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022486	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	216	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Phe144Leu	VAR_022486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022486	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	141	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Asp148Asn	VAR_022487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022487	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	430	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Asp148Asn	VAR_022487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022487	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	220	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Asp148Asn	VAR_022487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022487	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	145	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Glu151Gly	VAR_022488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022488	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	433	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Glu151Gly	VAR_022488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022488	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	223	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Glu151Gly	VAR_022488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022488	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	148	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Ile153Thr	VAR_022489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022489	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	435	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Ile153Thr	VAR_022489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022489	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	225	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Ile153Thr	VAR_022489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022489	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	150	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Phe157Ser	VAR_022490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022490	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	439	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Phe157Ser	VAR_022490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022490	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	229	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Phe157Ser	VAR_022490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022490	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	154	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Arg162Trp	VAR_006106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006106	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	444	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Arg162Trp	VAR_006106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006106	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	239	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Arg162Trp	VAR_006106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006106	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	159	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Phe172Val	VAR_022491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022491	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	454	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Phe172Val	VAR_022491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022491	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	249	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Phe172Val	VAR_022491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022491	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	171	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Gly175Arg	VAR_006107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006107	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	457	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Gly175Arg	VAR_006107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006107	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	252	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Gly175Arg	VAR_006107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006107	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	174	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Gly176Val	VAR_022492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022492	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	458	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Gly176Val	VAR_022492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022492	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	253	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Gly176Val	VAR_022492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022492	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	175	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Gln177His	VAR_022493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022493	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	459	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Gln177His	VAR_022493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022493	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	254	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Gln177His	VAR_022493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022493	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	176	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Phe183Ser	VAR_022494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022494	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	465	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Phe183Ser	VAR_022494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022494	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	270	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Phe183Ser	VAR_022494	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022494	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	182	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Asp185Gly	VAR_022495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022495	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	467	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Asp185Gly	VAR_022495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022495	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	272	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Asp185Gly	VAR_022495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022495	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	184	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Asp188Gly	VAR_006108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006108	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	470	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Asp188Gly	VAR_006108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006108	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	275	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Asp188Gly	VAR_006108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006108	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	187	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Cys192Gly	VAR_022496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022496	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	474	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Cys192Gly	VAR_022496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022496	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	279	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Cys192Gly	VAR_022496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022496	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	191	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.His195Arg	VAR_022497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022497	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	477	cd01427	4557839,NP_000294
5373	3024413	Disease	p.His195Arg	VAR_022497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022497	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	282	COG0561	4557839,NP_000294
5373	3024413	Disease	p.His195Arg	VAR_022497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022497	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	194	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Glu197Ala	VAR_022498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022498	rs34258285 Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	479	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Glu197Ala	VAR_022498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022498	rs34258285 Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	284	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Glu197Ala	VAR_022498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022498	rs34258285 Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	196	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Phe206Ser	VAR_022499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022499	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	501	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Phe206Ser	VAR_022499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022499	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	304	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Phe206Ser	VAR_022499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022499	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	206	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Gly208Ala	VAR_006109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006109	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	503	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Gly208Ala	VAR_006109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006109	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	306	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Gly208Ala	VAR_006109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006109	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	208	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Gly214Ser	VAR_022500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022500	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	522	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Gly214Ser	VAR_022500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022500	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	308	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Gly214Ser	VAR_022500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022500	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	214	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Asn216Ile	VAR_006110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006110	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	524	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Asn216Ile	VAR_006110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006110	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	310	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Asn216Ile	VAR_006110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006110	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	216	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Asn216Ser	VAR_022501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022501	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	524	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Asn216Ser	VAR_022501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022501	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	310	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Asn216Ser	VAR_022501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022501	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	216	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Asp217Glu	VAR_022502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022502	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	525	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Asp217Glu	VAR_022502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022502	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	311	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Asp217Glu	VAR_022502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022502	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	217	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.His218Leu	VAR_022503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022503	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	526	cd01427	4557839,NP_000294
5373	3024413	Disease	p.His218Leu	VAR_022503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022503	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	312	COG0561	4557839,NP_000294
5373	3024413	Disease	p.His218Leu	VAR_022503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022503	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	218	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Asp223Glu	VAR_006111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006111	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	531	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Asp223Glu	VAR_006111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006111	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	317	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Asp223Glu	VAR_006111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006111	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	223	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Asp223Asn	VAR_022504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022504	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	531	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Asp223Asn	VAR_022504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022504	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	317	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Asp223Asn	VAR_022504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022504	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	223	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Thr226Ser	VAR_022505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022505	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	548	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Thr226Ser	VAR_022505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022505	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	320	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Thr226Ser	VAR_022505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022505	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	226	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Gly228Cys	VAR_022506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022506	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	550	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Gly228Cys	VAR_022506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022506	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	322	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Gly228Cys	VAR_022506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022506	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	228	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Gly228Arg	VAR_022507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022507	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	550	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Gly228Arg	VAR_022507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022507	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	322	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Gly228Arg	VAR_022507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022507	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	228	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Tyr229Ser	VAR_006112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006112	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	551	cd01427	4557839,NP_000294
5373	3024413	Disease	p.Tyr229Ser	VAR_006112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006112	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	323	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Tyr229Ser	VAR_006112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006112	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	229	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Val231Met	VAR_006113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006113	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	325	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Val231Met	VAR_006113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006113	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	231	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Ala233Thr	VAR_006114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006114	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	330	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Ala233Thr	VAR_006114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006114	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	233	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Thr237Met	VAR_006115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006115	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	335	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Thr237Met	VAR_006115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006115	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	237	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Thr237Arg	VAR_022508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022508	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	335	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Thr237Arg	VAR_022508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022508	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	237	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Arg238Gly	VAR_022509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022509	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	336	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Arg238Gly	VAR_022509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022509	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	238	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Arg238Pro	VAR_006116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006116	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	336	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Arg238Pro	VAR_006116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006116	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	238	pfam03332	4557839,NP_000294
5373	3024413	Disease	p.Cys241Ser	VAR_022510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022510	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	339	COG0561	4557839,NP_000294
5373	3024413	Disease	p.Cys241Ser	VAR_022510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022510	- Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]	SWISS	241	pfam03332	4557839,NP_000294
5376	266803	Disease	p.His12Gln	VAR_006359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006359	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	12	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Leu16Pro	VAR_006360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006360	- Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]	SWISS	16	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Leu16Pro	VAR_006360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006360	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	16	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Leu19Pro	VAR_006361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006361	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	19	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Ser22Phe	VAR_029960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029960	- Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]	SWISS	22	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Ser22Phe	VAR_029960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029960	- Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]	SWISS	22	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Thr23Arg	VAR_029961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029961	- Charcot-Marie-Tooth disease type 1E (CMT1E) [MIM:118300]	SWISS	23	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Trp28Arg	VAR_029963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029963	- Charcot-Marie-Tooth disease type 1E (CMT1E) [MIM:118300]	SWISS	29	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Val30Met	VAR_009659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009659	- Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]	SWISS	31	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Asp37Val	VAR_009660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009660	- Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]	SWISS	58	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Val65Phe	VAR_029964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029964	- Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]	SWISS	90	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Ala67Pro	VAR_009661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009661	- Charcot-Marie-Tooth disease type 1E (CMT1E) [MIM:118300]	SWISS	92	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Ala67Thr	VAR_029965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029965	- Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]	SWISS	92	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Met69Lys	VAR_006362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006362	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	94	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Leu71Pro	VAR_029966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029966	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	96	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Ser72Leu	VAR_006363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006363	- Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]	SWISS	97	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Ser72Leu	VAR_006363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006363	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	97	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Ser72Pro	VAR_006364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006364	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	97	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Ser72Trp	VAR_006365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006365	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	97	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Ser76Ile	VAR_006366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006366	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	105	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Ser79Cys	VAR_006367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006367	- Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]	SWISS	108	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Ser79Pro	VAR_006368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006368	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	108	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Leu80Pro	VAR_006369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006369	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	109	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Leu80Arg	VAR_029967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029967	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	109	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Gly93Arg	VAR_009662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009662	- Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]	SWISS	122	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Gly100Glu	VAR_006371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006371	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	137	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Gly100Arg	VAR_006372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006372	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	137	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Leu105Arg	VAR_006373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006373	- Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]	SWISS	142	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Leu105Arg	VAR_006373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006373	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	142	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Gly107Val	VAR_006374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006374	- Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]	SWISS	144	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Cys109Arg	VAR_029968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029968	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	146	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Thr118Met	VAR_006375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006375	- Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]	SWISS	155	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Leu147Arg	VAR_006377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006377	- Charcot-Marie-Tooth disease type 1A (CMT1A) [MIM:118220]	SWISS	192	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Ser149Arg	VAR_029970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029970	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	194	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Gly150Cys	VAR_006378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006378	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	195	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Gly150Asp	VAR_006379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006379	- Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	195	pfam00822	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
5376	266803	Disease	p.Arg157Trp	VAR_009664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009664	rs28936682 Dejerine-Sottas syndrome (DSS) [MIM:145900]	SWISS	No Domain	N/A	4505907,NP_000295|24430163,NP_696996|24430165,NP_696997
25953	158563846	Disease	p.Ala7Val	VAR_034844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034844	- Dystonia type 8 (DYT8) [MIM:118800]	SWISS	No Domain	N/A	116642887,NP_056303
25953	158563846	Disease	p.Ala9Val	VAR_034845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034845	- Dystonia type 8 (DYT8) [MIM:118800]	SWISS	No Domain	N/A	116642887,NP_056303
57104	74731110	Disease	p.Pro195Leu	VAR_032995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032995	- Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]	SWISS	188	cd07221	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	VAR_032995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032995	- Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]	SWISS	188	cd07218	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	VAR_032995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032995	- Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]	SWISS	217	cd07210	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	VAR_032995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032995	- Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]	SWISS	234	cd07220	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	VAR_032995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032995	- Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]	SWISS	197	cd07223	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	VAR_032995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032995	- Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]	SWISS	201	cd07219	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	VAR_032995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032995	- Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]	SWISS	397	COG1752	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	VAR_032995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032995	- Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]	SWISS	282	cd07209	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	VAR_032995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032995	- Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]	SWISS	219	cd07224	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	VAR_032995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032995	- Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]	SWISS	193	cd07204	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	VAR_032995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032995	- Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]	SWISS	223	cd07222	32698724,NP_065109
57104	74731110	Disease	p.Pro195Leu	VAR_032995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032995	- Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]	SWISS	309	cd07208	32698724,NP_065109
10908	150403921	Disease	p.Arg929His	VAR_044409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044409	- Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020]	SWISS	No Domain	N/A	NULL
10908	150403921	Disease	p.Met1051Val	VAR_044410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044410	- Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020]	SWISS	156	COG1752	NULL
10908	150403921	Disease	p.Met1051Val	VAR_044410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044410	- Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020]	SWISS	97	cd07225	NULL
10908	150403921	Disease	p.Met1051Val	VAR_044410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044410	- Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020]	SWISS	81	cd07228	NULL
10908	150403921	Disease	p.Met1051Val	VAR_044410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044410	- Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020]	SWISS	114	cd07205	NULL
10908	150403921	Disease	p.Met1051Val	VAR_044410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044410	- Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020]	SWISS	91	cd07210	NULL
10908	150403921	Disease	p.Met1051Val	VAR_044410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044410	- Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020]	SWISS	224	cd07207	NULL
10908	150403921	Disease	p.Met1051Val	VAR_044410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044410	- Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020]	SWISS	125	cd07199	NULL
10908	150403921	Disease	p.Met1051Val	VAR_044410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044410	- Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020]	SWISS	92	cd07227	NULL
10908	150403921	Disease	p.Met1051Val	VAR_044410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044410	- Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020]	SWISS	294	pfam01734	NULL
10908	150403921	Disease	p.Met1051Val	VAR_044410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044410	- Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020]	SWISS	104	cd07208	NULL
10908	150403921	Disease	p.Met1051Val	VAR_044410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044410	- Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020]	SWISS	164	cd01819	NULL
10908	150403921	Disease	p.Met1051Val	VAR_044410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044410	- Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020]	SWISS	123	cd07198	NULL
10908	150403921	Disease	p.Met1051Val	VAR_044410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044410	- Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020]	SWISS	147	cd07209	NULL
55163	37082126	Disease	p.Arg229Trp	VAR_029360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029360	- Pyridoxine-5'-phosphate oxidase deficiency (PNPO deficiency) [MIM:610090]	SWISS	24	pfam10590	8922498,NP_060599
55163	37082126	Disease	p.Arg229Trp	VAR_029360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029360	- Pyridoxine-5'-phosphate oxidase deficiency (PNPO deficiency) [MIM:610090]	SWISS	217	COG0259	8922498,NP_060599
79983	116248583	Disease	p.Arg329Gln	VAR_028757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028757	- Premature ovarian failure type 2B (POF2B) [MIM:300604]	SWISS	No Domain	N/A	NULL
5428	1706507	Disease	p.Arg3Pro	VAR_012153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012153	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg227Trp	VAR_023663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023663	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg232Gly	VAR_058870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058870	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg232His	VAR_058871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058871	- Leigh syndrome (LS) [MIM:256000]	SWISS	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Leu244Pro	VAR_058872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058872	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Thr251Ile	VAR_023664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023664	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly268Ala	VAR_058873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058873	rs61752784 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Leu304Arg	VAR_012154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012154	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gln308His	VAR_058875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058875	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg309Leu	VAR_023665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023665	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Trp312Arg	VAR_023666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023666	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly380Asp	VAR_058876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058876	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly431Val	VAR_023667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023667	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	No Domain	N/A	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala467Thr	VAR_012155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012155	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	39	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala467Thr	VAR_012155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012155	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	27	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Asn468Asp	VAR_023668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023668	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	40	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Asn468Asp	VAR_023668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023668	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	28	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ser511Asn	VAR_058878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058878	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	83	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ser511Asn	VAR_058878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058878	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	71	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly517Val	VAR_058879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058879	rs61752783 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	89	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly517Val	VAR_058879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058879	rs61752783 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	77	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg562Gln	VAR_058880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058880	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	134	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg562Gln	VAR_058880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058880	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	122	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg574Trp	VAR_058881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058881	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	146	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg574Trp	VAR_058881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058881	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	134	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg579Trp	VAR_023670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023670	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	151	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg579Trp	VAR_023670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023670	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	139	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Pro587Leu	VAR_023671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023671	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	159	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Pro587Leu	VAR_023671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023671	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	147	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Met603Leu	VAR_058882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058882	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	175	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Met603Leu	VAR_058882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058882	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	163	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg627Trp	VAR_023672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023672	- Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]	SWISS	199	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg627Trp	VAR_023672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023672	- Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]	SWISS	187	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Pro648Arg	VAR_058884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058884	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	220	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Pro648Arg	VAR_058884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058884	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	208	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly737Arg	VAR_058885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058885	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	309	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly737Arg	VAR_058885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058885	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	8	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly737Arg	VAR_058885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058885	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	297	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Trp748Ser	VAR_023673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023673	- Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]	SWISS	320	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Trp748Ser	VAR_023673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023673	- Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]	SWISS	19	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Trp748Ser	VAR_023673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023673	- Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]	SWISS	308	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala767Asp	VAR_058886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058886	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	339	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala767Asp	VAR_058886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058886	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	40	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala767Asp	VAR_058886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058886	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	327	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg807Cys	VAR_058887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058887	- Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]	SWISS	379	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg807Cys	VAR_058887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058887	- Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]	SWISS	82	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg807Cys	VAR_058887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058887	- Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]	SWISS	367	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg807Pro	VAR_058888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058888	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	379	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg807Pro	VAR_058888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058888	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	82	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg807Pro	VAR_058888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058888	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	367	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Tyr831Cys	VAR_023674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023674	rs4154971 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	408	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Tyr831Cys	VAR_023674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023674	rs4154971 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	109	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Tyr831Cys	VAR_023674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023674	rs4154971 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	391	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly848Ser	VAR_023675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023675	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	425	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly848Ser	VAR_023675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023675	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	126	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly848Ser	VAR_023675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023675	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	408	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly848Ser	VAR_023675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023675	- Leigh syndrome (LS) [MIM:256000]	SWISS	425	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly848Ser	VAR_023675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023675	- Leigh syndrome (LS) [MIM:256000]	SWISS	126	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly848Ser	VAR_023675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023675	- Leigh syndrome (LS) [MIM:256000]	SWISS	408	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly848Ser	VAR_023675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023675	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	425	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly848Ser	VAR_023675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023675	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	126	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly848Ser	VAR_023675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023675	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	408	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg853Trp	VAR_058889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058889	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	430	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg853Trp	VAR_058889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058889	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	131	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg853Trp	VAR_058889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058889	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	413	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Asn864Ser	VAR_023676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023676	- Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) [MIM:603041]	SWISS	441	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Asn864Ser	VAR_023676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023676	- Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) [MIM:603041]	SWISS	142	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Asn864Ser	VAR_023676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023676	- Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) [MIM:603041]	SWISS	424	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gln879His	VAR_058890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058890	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	456	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gln879His	VAR_058890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058890	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	9	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gln879His	VAR_058890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058890	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	163	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gln879His	VAR_058890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058890	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	498	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Thr885Ser	VAR_058891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058891	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	462	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Thr885Ser	VAR_058891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058891	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	25	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Thr885Ser	VAR_058891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058891	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	171	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Thr885Ser	VAR_058891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058891	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	505	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala889Thr	VAR_023677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023677	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	466	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala889Thr	VAR_023677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023677	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	32	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala889Thr	VAR_023677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023677	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	175	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala889Thr	VAR_023677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023677	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	509	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly923Asp	VAR_023678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023678	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	500	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly923Asp	VAR_023678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023678	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	68	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly923Asp	VAR_023678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023678	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	209	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly923Asp	VAR_023678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023678	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	543	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.His932Tyr	VAR_023679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023679	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	509	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.His932Tyr	VAR_023679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023679	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	84	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.His932Tyr	VAR_023679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023679	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	218	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.His932Tyr	VAR_023679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023679	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	552	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.His932Tyr	VAR_023679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023679	- Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]	SWISS	509	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.His932Tyr	VAR_023679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023679	- Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]	SWISS	84	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.His932Tyr	VAR_023679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023679	- Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]	SWISS	218	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.His932Tyr	VAR_023679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023679	- Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]	SWISS	552	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg943His	VAR_023680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023680	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	520	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg943His	VAR_023680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023680	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	112	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg943His	VAR_023680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023680	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	229	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg943His	VAR_023680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023680	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	595	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg953Cys	VAR_023681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023681	rs11546842 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	530	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg953Cys	VAR_023681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023681	rs11546842 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	122	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg953Cys	VAR_023681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023681	rs11546842 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	239	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg953Cys	VAR_023681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023681	rs11546842 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	605	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Tyr955Cys	VAR_012156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012156	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	532	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Tyr955Cys	VAR_012156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012156	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	124	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Tyr955Cys	VAR_012156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012156	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	241	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Tyr955Cys	VAR_012156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012156	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	607	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala957Pro	VAR_058893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058893	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	534	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala957Pro	VAR_058893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058893	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	126	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala957Pro	VAR_058893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058893	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	243	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala957Pro	VAR_058893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058893	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	609	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala957Ser	VAR_023682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023682	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	534	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala957Ser	VAR_023682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023682	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	126	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala957Ser	VAR_023682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023682	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	243	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala957Ser	VAR_023682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023682	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	609	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg1047Gln	VAR_023683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023683	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	664	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg1047Gln	VAR_023683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023683	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	332	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg1047Gln	VAR_023683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023683	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	333	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg1047Gln	VAR_023683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023683	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	724	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly1051Arg	VAR_023684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023684	- Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]	SWISS	668	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly1051Arg	VAR_023684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023684	- Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]	SWISS	348	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly1051Arg	VAR_023684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023684	- Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]	SWISS	337	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly1051Arg	VAR_023684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023684	- Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]	SWISS	728	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly1076Val	VAR_023685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023685	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	693	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly1076Val	VAR_023685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023685	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	380	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly1076Val	VAR_023685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023685	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	362	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Gly1076Val	VAR_023685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023685	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	753	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg1096Cys	VAR_023686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023686	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	756	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg1096Cys	VAR_023686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023686	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	403	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg1096Cys	VAR_023686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023686	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	383	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg1096Cys	VAR_023686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023686	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	773	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg1096His	VAR_058894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058894	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	756	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg1096His	VAR_058894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058894	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	403	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg1096His	VAR_058894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058894	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	383	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg1096His	VAR_058894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058894	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	773	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ser1104Cys	VAR_023687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023687	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	764	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ser1104Cys	VAR_023687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023687	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	429	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ser1104Cys	VAR_023687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023687	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	391	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ser1104Cys	VAR_023687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023687	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	781	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala1105Thr	VAR_023688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023688	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	765	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala1105Thr	VAR_023688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023688	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	430	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala1105Thr	VAR_023688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023688	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	392	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ala1105Thr	VAR_023688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023688	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	782	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Val1106Ile	VAR_023689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023689	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	766	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Val1106Ile	VAR_023689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023689	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	431	smart00482	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Val1106Ile	VAR_023689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023689	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	393	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Val1106Ile	VAR_023689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023689	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	783	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg1146Cys	VAR_014910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014910	rs2307440 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	806	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg1146Cys	VAR_014910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014910	rs2307440 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	439	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Arg1146Cys	VAR_014910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014910	rs2307440 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	857	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ser1176Leu	VAR_023690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023690	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	836	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ser1176Leu	VAR_023690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023690	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	477	pfam00476	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Ser1176Leu	VAR_023690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023690	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1) [MIM:157640]	SWISS	887	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Asp1184Asn	VAR_058897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058897	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	844	cd08641	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Asp1184Asn	VAR_058897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058897	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]	SWISS	895	cd06444	187171277,NP_001119603|4505937,NP_002684
5428	1706507	Disease	p.Lys1191Asn	VAR_058898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058898	- Alpers-Huttenlocher syndrome (AHS) [MIM:203700]	SWISS	851	cd08641	187171277,NP_001119603|4505937,NP_002684
11232	17367139	Disease	p.Gly451Glu	VAR_029364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029364	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 4 (PEOA4) [MIM:610131]	SWISS	140	cd00858	70887790,NP_009146
11232	17367139	Disease	p.Gly451Glu	VAR_029364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029364	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 4 (PEOA4) [MIM:610131]	SWISS	116	cd02426	70887790,NP_009146
11232	17367139	Disease	p.Gly451Glu	VAR_029364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029364	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 4 (PEOA4) [MIM:610131]	SWISS	101	pfam03129	70887790,NP_009146
11232	17367139	Disease	p.Gly451Glu	VAR_029364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029364	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 4 (PEOA4) [MIM:610131]	SWISS	662	COG0423	70887790,NP_009146
11232	17367139	Disease	p.Gly451Glu	VAR_029364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029364	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 4 (PEOA4) [MIM:610131]	SWISS	84	cd00738	70887790,NP_009146
5429	59798441	Disease	p.Arg111His	VAR_021227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021227	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	241	cd01701	5729982,NP_006493
5429	59798441	Disease	p.Arg111His	VAR_021227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021227	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	158	COG0389	5729982,NP_006493
5429	59798441	Disease	p.Arg111His	VAR_021227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021227	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	95	cd01703	5729982,NP_006493
5429	59798441	Disease	p.Arg111His	VAR_021227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021227	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	142	cd01702	5729982,NP_006493
5429	59798441	Disease	p.Arg111His	VAR_021227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021227	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	161	cd01700	5729982,NP_006493
5429	59798441	Disease	p.Arg111His	VAR_021227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021227	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	163	cd03586	5729982,NP_006493
5429	59798441	Disease	p.Arg111His	VAR_021227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021227	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	145	cd00424	5729982,NP_006493
5429	59798441	Disease	p.Arg111His	VAR_021227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021227	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	261	pfam00817	5729982,NP_006493
5429	59798441	Disease	p.Thr122Pro	VAR_021228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021228	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	252	cd01701	5729982,NP_006493
5429	59798441	Disease	p.Thr122Pro	VAR_021228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021228	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	169	COG0389	5729982,NP_006493
5429	59798441	Disease	p.Thr122Pro	VAR_021228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021228	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	106	cd01703	5729982,NP_006493
5429	59798441	Disease	p.Thr122Pro	VAR_021228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021228	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	153	cd01702	5729982,NP_006493
5429	59798441	Disease	p.Thr122Pro	VAR_021228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021228	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	172	cd01700	5729982,NP_006493
5429	59798441	Disease	p.Thr122Pro	VAR_021228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021228	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	174	cd03586	5729982,NP_006493
5429	59798441	Disease	p.Thr122Pro	VAR_021228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021228	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	156	cd00424	5729982,NP_006493
5429	59798441	Disease	p.Thr122Pro	VAR_021228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021228	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	292	pfam00817	5729982,NP_006493
5429	59798441	Disease	p.Gly263Val	VAR_021230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021230	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	366_G	cd01701	5729982,NP_006493
5429	59798441	Disease	p.Gly263Val	VAR_021230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021230	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	331	COG0389	5729982,NP_006493
5429	59798441	Disease	p.Gly263Val	VAR_021230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021230	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	269_G	cd01703	5729982,NP_006493
5429	59798441	Disease	p.Gly263Val	VAR_021230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021230	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	407	cd01702	5729982,NP_006493
5429	59798441	Disease	p.Gly263Val	VAR_021230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021230	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	285	cd01700	5729982,NP_006493
5429	59798441	Disease	p.Gly263Val	VAR_021230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021230	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	364	cd03586	5729982,NP_006493
5429	59798441	Disease	p.Gly263Val	VAR_021230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021230	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	312_G	cd00424	5729982,NP_006493
5429	59798441	Disease	p.Arg361Ser	VAR_021232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021232	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	482	cd01701	5729982,NP_006493
5429	59798441	Disease	p.Arg361Ser	VAR_021232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021232	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	489	COG0389	5729982,NP_006493
5429	59798441	Disease	p.Arg361Ser	VAR_021232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021232	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	194	pfam11799	5729982,NP_006493
5429	59798441	Disease	p.Arg361Ser	VAR_021232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021232	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	445	cd01703	5729982,NP_006493
5429	59798441	Disease	p.Arg361Ser	VAR_021232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021232	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	572	cd01702	5729982,NP_006493
5429	59798441	Disease	p.Arg361Ser	VAR_021232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021232	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	392	cd01700	5729982,NP_006493
5429	59798441	Disease	p.Arg361Ser	VAR_021232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021232	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	511	cd03586	5729982,NP_006493
5429	59798441	Disease	p.Arg361Ser	VAR_021232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021232	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	448	cd00424	5729982,NP_006493
5429	59798441	Disease	p.Lys535Glu	VAR_021234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021234	rs56307355 Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	No Domain	N/A	5729982,NP_006493
5429	59798441	Disease	p.Lys589Thr	VAR_021236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021236	- Xeroderma pigmentosum variant type (XPV) [MIM:278750]	SWISS	No Domain	N/A	5729982,NP_006493
55624	311033411	Disease	p.Glu223Lys	VAR_023101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023101	- Muscle-eye-brain disease (MEB) [MIM:253280]	SWISS	No Domain	N/A	NULL
55624	311033411	Disease	p.Arg265His	VAR_023102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023102	- Muscle-eye-brain disease (MEB) [MIM:253280]	SWISS	50	pfam03071	NULL
55624	311033411	Disease	p.Cys269Tyr	VAR_023103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023103	- Muscle-eye-brain disease (MEB) [MIM:253280]	SWISS	54	pfam03071	NULL
55624	311033411	Disease	p.Arg311Gln	VAR_023104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023104	- Muscle-eye-brain disease (MEB) [MIM:253280]	SWISS	108	pfam03071	NULL
55624	311033411	Disease	p.Arg311Gln	VAR_023104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023104	- Muscle-eye-brain disease (MEB) [MIM:253280]	SWISS	11	cd02514	NULL
55624	311033411	Disease	p.Trp425Ser	VAR_023105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023105	- Muscle-eye-brain disease (MEB) [MIM:253280]	SWISS	240	pfam03071	NULL
55624	311033411	Disease	p.Trp425Ser	VAR_023105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023105	- Muscle-eye-brain disease (MEB) [MIM:253280]	SWISS	145	cd02514	NULL
55624	311033411	Disease	p.Arg442Cys	VAR_023106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023106	rs28940869 Muscle-eye-brain disease (MEB) [MIM:253280]	SWISS	259	pfam03071	NULL
55624	311033411	Disease	p.Arg442Cys	VAR_023106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023106	rs28940869 Muscle-eye-brain disease (MEB) [MIM:253280]	SWISS	164	cd02514	NULL
55624	311033411	Disease	p.Cys490Tyr	VAR_023107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023107	- Muscle-eye-brain disease (MEB) [MIM:253280]	SWISS	302	pfam03071	NULL
55624	311033411	Disease	p.Cys490Tyr	VAR_023107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023107	- Muscle-eye-brain disease (MEB) [MIM:253280]	SWISS	212	cd02514	NULL
55624	311033411	Disease	p.Pro493Arg	VAR_023108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023108	rs28942068 Muscle-eye-brain disease (MEB) [MIM:253280]	SWISS	305	pfam03071	NULL
55624	311033411	Disease	p.Pro493Arg	VAR_023108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023108	rs28942068 Muscle-eye-brain disease (MEB) [MIM:253280]	SWISS	215	cd02514	NULL
55624	311033411	Disease	p.Ser550Asn	VAR_023109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023109	- Muscle-eye-brain disease (MEB) [MIM:253280]	SWISS	365	pfam03071	NULL
55624	311033411	Disease	p.Ser550Asn	VAR_023109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023109	- Muscle-eye-brain disease (MEB) [MIM:253280]	SWISS	277	cd02514	NULL
10585	32171725	Disease	p.Gly76Arg	VAR_015734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015734	rs28941782 Walker-Warburg syndrome (WWS) [MIM:236670]	SWISS	91	COG1928	116517319,NP_009102
10585	32171725	Disease	p.Gly76Arg	VAR_015734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015734	rs28941782 Walker-Warburg syndrome (WWS) [MIM:236670]	SWISS	58	pfam02366	116517319,NP_009102
10585	32171725	Disease	p.Ala200Pro	VAR_022661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022661	- Limb-girdle muscular dystrophy type 2K (LGMD2K) [MIM:609308]	SWISS	227	COG1928	116517319,NP_009102
10585	32171725	Disease	p.Ala200Pro	VAR_022661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022661	- Limb-girdle muscular dystrophy type 2K (LGMD2K) [MIM:609308]	SWISS	195	pfam02366	116517319,NP_009102
10585	32171725	Disease	p.Val428Asp	VAR_015735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015735	- Walker-Warburg syndrome (WWS) [MIM:236670]	SWISS	441	COG1928	116517319,NP_009102
10585	32171725	Disease	p.Val428Asp	VAR_015735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015735	- Walker-Warburg syndrome (WWS) [MIM:236670]	SWISS	75	smart00472	116517319,NP_009102
10585	32171725	Disease	p.Val428Asp	VAR_015735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015735	- Walker-Warburg syndrome (WWS) [MIM:236670]	SWISS	186	pfam02815	116517319,NP_009102
10585	32171725	Disease	p.Ser537Arg	VAR_026697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026697	- Walker-Warburg syndrome (WWS) [MIM:236670]	SWISS	552	COG1928	116517319,NP_009102
5447	2851393	Disease	p.Tyr178Asp	VAR_021154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021154	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	129	COG0716	NULL
5447	2851393	Disease	p.Tyr178Asp	VAR_021154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021154	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	210	COG0369	NULL
5447	2851393	Disease	p.Tyr178Asp	VAR_021154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021154	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	167	pfam00258	NULL
5447	2851393	Disease	p.Ala284Pro	VAR_021155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021155	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	8	cd06204	NULL
5447	2851393	Disease	p.Ala284Pro	VAR_021155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021155	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	10	pfam00667	NULL
5447	2851393	Disease	p.Ala284Pro	VAR_021155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021155	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	317	COG0369	NULL
5447	2851393	Disease	p.Arg454His	VAR_021156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021156	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	184	cd06202	NULL
5447	2851393	Disease	p.Arg454His	VAR_021156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021156	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	219	cd00322	NULL
5447	2851393	Disease	p.Arg454His	VAR_021156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021156	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	53	cd06189	NULL
5447	2851393	Disease	p.Arg454His	VAR_021156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021156	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	67	cd06195	NULL
5447	2851393	Disease	p.Arg454His	VAR_021156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021156	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	104	cd06208	NULL
5447	2851393	Disease	p.Arg454His	VAR_021156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021156	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	207	cd06204	NULL
5447	2851393	Disease	p.Arg454His	VAR_021156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021156	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	134	cd06201	NULL
5447	2851393	Disease	p.Arg454His	VAR_021156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021156	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	111	cd06200	NULL
5447	2851393	Disease	p.Arg454His	VAR_021156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021156	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	198	pfam00667	NULL
5447	2851393	Disease	p.Arg454His	VAR_021156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021156	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	551	COG0369	NULL
5447	2851393	Disease	p.Arg454His	VAR_021156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021156	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	238	cd06207	NULL
5447	2851393	Disease	p.Arg454His	VAR_021156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021156	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	212	cd06206	NULL
5447	2851393	Disease	p.Arg454His	VAR_021156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021156	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	196	cd06203	NULL
5447	2851393	Disease	p.Arg454His	VAR_021156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021156	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	202	cd06199	NULL
5447	2851393	Disease	p.Arg454His	VAR_021156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021156	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	217	cd06182	NULL
5447	2851393	Disease	p.Val489Glu	VAR_021157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021157	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	221	cd06202	NULL
5447	2851393	Disease	p.Val489Glu	VAR_021157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021157	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	292	cd00322	NULL
5447	2851393	Disease	p.Val489Glu	VAR_021157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021157	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	96	cd06189	NULL
5447	2851393	Disease	p.Val489Glu	VAR_021157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021157	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	115	cd06195	NULL
5447	2851393	Disease	p.Val489Glu	VAR_021157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021157	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	162	cd06208	NULL
5447	2851393	Disease	p.Val489Glu	VAR_021157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021157	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	251	cd06204	NULL
5447	2851393	Disease	p.Val489Glu	VAR_021157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021157	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	158	cd06201	NULL
5447	2851393	Disease	p.Val489Glu	VAR_021157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021157	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	143	cd06200	NULL
5447	2851393	Disease	p.Val489Glu	VAR_021157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021157	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	236	pfam00667	NULL
5447	2851393	Disease	p.Val489Glu	VAR_021157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021157	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	592	COG0369	NULL
5447	2851393	Disease	p.Val489Glu	VAR_021157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021157	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	276	cd06207	NULL
5447	2851393	Disease	p.Val489Glu	VAR_021157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021157	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	286	cd06206	NULL
5447	2851393	Disease	p.Val489Glu	VAR_021157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021157	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	235	cd06203	NULL
5447	2851393	Disease	p.Val489Glu	VAR_021157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021157	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	241	cd06199	NULL
5447	2851393	Disease	p.Val489Glu	VAR_021157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021157	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	289	cd06182	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	321	cd06202	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	427	cd00322	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	164	cd06189	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	195	cd06195	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	245	cd06208	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	380	cd06204	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	222	cd06201	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	46	pfam00175	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	215	cd06200	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	714	COG0369	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	362	cd06207	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	375	cd06206	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	381	cd06203	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	324	cd06199	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	398	cd06182	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	321	cd06202	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	427	cd00322	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	164	cd06189	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	195	cd06195	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	245	cd06208	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	380	cd06204	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	222	cd06201	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	46	pfam00175	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	215	cd06200	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	714	COG0369	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	362	cd06207	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	375	cd06206	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	381	cd06203	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	324	cd06199	NULL
5447	2851393	Disease	p.Cys566Tyr	VAR_021158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021158	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	398	cd06182	NULL
5447	2851393	Disease	p.Tyr575Cys	VAR_021159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021159	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	331	cd06202	NULL
5447	2851393	Disease	p.Tyr575Cys	VAR_021159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021159	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	453	cd00322	NULL
5447	2851393	Disease	p.Tyr575Cys	VAR_021159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021159	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	172_G	cd06189	NULL
5447	2851393	Disease	p.Tyr575Cys	VAR_021159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021159	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	204	cd06195	NULL
5447	2851393	Disease	p.Tyr575Cys	VAR_021159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021159	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	253	cd06208	NULL
5447	2851393	Disease	p.Tyr575Cys	VAR_021159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021159	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	389	cd06204	NULL
5447	2851393	Disease	p.Tyr575Cys	VAR_021159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021159	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	231	cd06201	NULL
5447	2851393	Disease	p.Tyr575Cys	VAR_021159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021159	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	57	pfam00175	NULL
5447	2851393	Disease	p.Tyr575Cys	VAR_021159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021159	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	224	cd06200	NULL
5447	2851393	Disease	p.Tyr575Cys	VAR_021159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021159	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	723	COG0369	NULL
5447	2851393	Disease	p.Tyr575Cys	VAR_021159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021159	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	371	cd06207	NULL
5447	2851393	Disease	p.Tyr575Cys	VAR_021159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021159	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	384	cd06206	NULL
5447	2851393	Disease	p.Tyr575Cys	VAR_021159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021159	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	390	cd06203	NULL
5447	2851393	Disease	p.Tyr575Cys	VAR_021159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021159	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	333	cd06199	NULL
5447	2851393	Disease	p.Tyr575Cys	VAR_021159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021159	- Adrenal hyperplasia variant type (AHV) [MIM:201750]	SWISS	407	cd06182	NULL
5447	2851393	Disease	p.Val605Phe	VAR_021160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021160	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	362	cd06202	NULL
5447	2851393	Disease	p.Val605Phe	VAR_021160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021160	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	534	cd00322	NULL
5447	2851393	Disease	p.Val605Phe	VAR_021160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021160	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	212	cd06189	NULL
5447	2851393	Disease	p.Val605Phe	VAR_021160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021160	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	254	cd06195	NULL
5447	2851393	Disease	p.Val605Phe	VAR_021160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021160	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	290	cd06208	NULL
5447	2851393	Disease	p.Val605Phe	VAR_021160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021160	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	426	cd06204	NULL
5447	2851393	Disease	p.Val605Phe	VAR_021160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021160	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	268	cd06201	NULL
5447	2851393	Disease	p.Val605Phe	VAR_021160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021160	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	103	pfam00175	NULL
5447	2851393	Disease	p.Val605Phe	VAR_021160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021160	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	257	cd06200	NULL
5447	2851393	Disease	p.Val605Phe	VAR_021160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021160	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	779	COG0369	NULL
5447	2851393	Disease	p.Val605Phe	VAR_021160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021160	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	420	cd06207	NULL
5447	2851393	Disease	p.Val605Phe	VAR_021160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021160	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	433	cd06206	NULL
5447	2851393	Disease	p.Val605Phe	VAR_021160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021160	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	432	cd06203	NULL
5447	2851393	Disease	p.Val605Phe	VAR_021160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021160	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	366	cd06199	NULL
5447	2851393	Disease	p.Val605Phe	VAR_021160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021160	- Isolated disordered steroidogenesis (IDS) [MIM:201750]	SWISS	444	cd06182	NULL
64840	116242723	Disease	p.Gly60Arg	VAR_035089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035089	- Focal dermal hypoplasia (FODH) [MIM:305600]	SWISS	No Domain	N/A	45439335,NP_982301
64840	116242723	Disease	p.Ser136Phe	VAR_058899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058899	- Focal dermal hypoplasia (FODH) [MIM:305600]	SWISS	29	pfam03062	45439335,NP_982301
64840	116242723	Disease	p.Gly168Arg	VAR_058900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058900	- Focal dermal hypoplasia (FODH) [MIM:305600]	SWISS	161	pfam03062	45439335,NP_982301
64840	116242723	Disease	p.Arg228Cys	VAR_058901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058901	- Focal dermal hypoplasia (FODH) [MIM:305600]	SWISS	235	pfam03062	45439335,NP_982301
64840	116242723	Disease	p.Val258Glu	VAR_058902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058902	- Focal dermal hypoplasia (FODH) [MIM:305600]	SWISS	269	pfam03062	45439335,NP_982301
64840	116242723	Disease	p.His341Leu	VAR_058903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058903	- Focal dermal hypoplasia (FODH) [MIM:305600]	SWISS	391	pfam03062	45439335,NP_982301
64840	116242723	Disease	p.Arg365Gly	VAR_035090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035090	- Focal dermal hypoplasia (FODH) [MIM:305600]	SWISS	417	pfam03062	45439335,NP_982301
64840	116242723	Disease	p.Arg365Gln	VAR_058904	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058904	- Focal dermal hypoplasia (FODH) [MIM:305600]	SWISS	417	pfam03062	45439335,NP_982301
64840	116242723	Disease	p.Cys385Arg	VAR_058905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058905	- Focal dermal hypoplasia (FODH) [MIM:305600]	SWISS	437	pfam03062	45439335,NP_982301
64840	116242723	Disease	p.Trp439Arg	VAR_058906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058906	- Focal dermal hypoplasia (FODH) [MIM:305600]	SWISS	No Domain	N/A	45439335,NP_982301
5449	123408	Disease	p.Pro24Leu	VAR_003777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003777	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	No Domain	N/A	4505955,NP_000297
5449	123408	Disease	p.Phe135Cys	VAR_010574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010574	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	12	pfam00157	4505955,NP_000297
5449	123408	Disease	p.Phe135Cys	VAR_010574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010574	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	12	smart00352	4505955,NP_000297
5449	123408	Disease	p.Arg143Gln	VAR_003778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003778	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	23	pfam00157	4505955,NP_000297
5449	123408	Disease	p.Arg143Gln	VAR_003778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003778	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	20	smart00352	4505955,NP_000297
5449	123408	Disease	p.Ala158Pro	VAR_003779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003779	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	38	pfam00157	4505955,NP_000297
5449	123408	Disease	p.Ala158Pro	VAR_003779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003779	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	35	smart00352	4505955,NP_000297
5449	123408	Disease	p.Arg172Gln	VAR_063425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063425	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	55	pfam00157	4505955,NP_000297
5449	123408	Disease	p.Arg172Gln	VAR_063425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063425	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	52	smart00352	4505955,NP_000297
5449	123408	Disease	p.Glu174Gly	VAR_010575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010575	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	57	pfam00157	4505955,NP_000297
5449	123408	Disease	p.Glu174Gly	VAR_010575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010575	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	54	smart00352	4505955,NP_000297
5449	123408	Disease	p.Ser179Arg	VAR_063426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063426	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	62	pfam00157	4505955,NP_000297
5449	123408	Disease	p.Ser179Arg	VAR_063426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063426	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	59	smart00352	4505955,NP_000297
5449	123408	Disease	p.Trp193Arg	VAR_015260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015260	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	76	pfam00157	4505955,NP_000297
5449	123408	Disease	p.Trp193Arg	VAR_015260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015260	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	73	smart00352	4505955,NP_000297
5449	123408	Disease	p.Glu230Lys	VAR_063427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063427	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	16	pfam00046	4505955,NP_000297
5449	123408	Disease	p.Glu230Lys	VAR_063427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063427	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	16	cd00086	4505955,NP_000297
5449	123408	Disease	p.Glu230Lys	VAR_063427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063427	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	21	smart00389	4505955,NP_000297
5449	123408	Disease	p.Pro239Ser	VAR_010576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010576	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	30	pfam00046	4505955,NP_000297
5449	123408	Disease	p.Pro239Ser	VAR_010576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010576	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	36	cd00086	4505955,NP_000297
5449	123408	Disease	p.Pro239Ser	VAR_010576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010576	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	44	smart00389	4505955,NP_000297
5449	123408	Disease	p.Arg271Trp	VAR_003781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003781	- Pituitary hormone deficiency combined type 1 (CPHD1) [MIM:613038]	SWISS	89	cd00086	4505955,NP_000297
5456	77416874	Disease	p.Ala312Val	VAR_003782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003782	- Deafness X-linked type 2 (DFNX2) [MIM:304400]	SWISS	53	smart00389	110624763,NP_000298
5456	77416874	Disease	p.Ala312Val	VAR_003782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003782	- Deafness X-linked type 2 (DFNX2) [MIM:304400]	SWISS	45	cd00086	110624763,NP_000298
5456	77416874	Disease	p.Ala312Val	VAR_003782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003782	- Deafness X-linked type 2 (DFNX2) [MIM:304400]	SWISS	39	pfam00046	110624763,NP_000298
5456	77416874	Disease	p.Leu317Trp	VAR_003783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003783	- Deafness X-linked type 2 (DFNX2) [MIM:304400]	SWISS	58	smart00389	110624763,NP_000298
5456	77416874	Disease	p.Leu317Trp	VAR_003783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003783	- Deafness X-linked type 2 (DFNX2) [MIM:304400]	SWISS	71	cd00086	110624763,NP_000298
5456	77416874	Disease	p.Leu317Trp	VAR_003783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003783	- Deafness X-linked type 2 (DFNX2) [MIM:304400]	SWISS	49	pfam00046	110624763,NP_000298
5456	77416874	Disease	p.Arg323Gly	VAR_003784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003784	- Deafness X-linked type 2 (DFNX2) [MIM:304400]	SWISS	85	smart00389	110624763,NP_000298
5456	77416874	Disease	p.Arg323Gly	VAR_003784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003784	- Deafness X-linked type 2 (DFNX2) [MIM:304400]	SWISS	77	cd00086	110624763,NP_000298
5456	77416874	Disease	p.Arg323Gly	VAR_003784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003784	- Deafness X-linked type 2 (DFNX2) [MIM:304400]	SWISS	55	pfam00046	110624763,NP_000298
5456	77416874	Disease	p.Arg330Ser	VAR_003785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003785	- Deafness X-linked type 2 (DFNX2) [MIM:304400]	SWISS	92	smart00389	110624763,NP_000298
5456	77416874	Disease	p.Arg330Ser	VAR_003785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003785	- Deafness X-linked type 2 (DFNX2) [MIM:304400]	SWISS	84	cd00086	110624763,NP_000298
5456	77416874	Disease	p.Arg330Ser	VAR_003785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003785	- Deafness X-linked type 2 (DFNX2) [MIM:304400]	SWISS	62	pfam00046	110624763,NP_000298
5456	77416874	Disease	p.Lys334Glu	VAR_003786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003786	- Deafness X-linked type 2 (DFNX2) [MIM:304400]	SWISS	88	cd00086	110624763,NP_000298
5456	77416874	Disease	p.Lys334Glu	VAR_003786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003786	- Deafness X-linked type 2 (DFNX2) [MIM:304400]	SWISS	66	pfam00046	110624763,NP_000298
5459	2495302	Disease	p.Leu223Pro	VAR_045682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045682	- Deafness autosomal dominant type 15 (DFNA15) [MIM:602459]	SWISS	48	pfam00157	4505965,NP_002691
5459	2495302	Disease	p.Leu223Pro	VAR_045682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045682	- Deafness autosomal dominant type 15 (DFNA15) [MIM:602459]	SWISS	45	smart00352	4505965,NP_002691
5459	2495302	Disease	p.Leu289Phe	VAR_045683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045683	- Deafness autosomal dominant type 15 (DFNA15) [MIM:602459]	SWISS	15	cd00086	4505965,NP_002691
5459	2495302	Disease	p.Leu289Phe	VAR_045683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045683	- Deafness autosomal dominant type 15 (DFNA15) [MIM:602459]	SWISS	20	smart00389	4505965,NP_002691
5459	2495302	Disease	p.Leu289Phe	VAR_045683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045683	- Deafness autosomal dominant type 15 (DFNA15) [MIM:602459]	SWISS	15	pfam00046	4505965,NP_002691
5468	13432234	Disease	p.Pro113Gln	VAR_010724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010724	rs1800571 Obesity [MIM:601665]	SWISS	No Domain	N/A	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	225	cd06932	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	104	cd06941	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	141	cd06935	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	171	cd06954	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	122	cd07072	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	141	cd06936	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	85	cd06942	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	109	cd06930	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	146	cd06946	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	126	cd06944	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	216_G	cd06934	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	148	cd06945	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	126	cd06938	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	117	cd06950	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	116	cd06929	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	109	pfam00104	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	156	cd07068	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	117	cd06948	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	137	cd06939	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	183	cd06933	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	119	cd07348	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	116	cd06931	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	627	smart00430	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	95	cd06940	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	153	cd06943	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	120	cd06937	20336229,NP_056953
5468	13432234	Disease	p.Phe388Leu	VAR_022700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022700	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	107	cd06157	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	262	cd06932	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	142	cd06941	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	178	cd06935	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	208	cd06954	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	158	cd07072	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	202	cd06936	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	123	cd06942	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	147	cd06930	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	183	cd06946	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	163	cd06944	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	249	cd06934	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	188	cd06945	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	163	cd06938	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	166	cd06950	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	156	cd06929	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	177	pfam00104	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	192	cd07068	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	157	cd06948	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	174	cd06939	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	221	cd06933	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	155	cd07348	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	157	cd06931	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	759	smart00430	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	132	cd06940	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	187	cd06943	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	157	cd06937	20336229,NP_056953
5468	13432234	Disease	p.Arg425Cys	VAR_022701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022701	- Familial partial lipodystrophy type 3 (FPLD3) [MIM:604367]	SWISS	144	cd06157	20336229,NP_056953
5479	215273869	Disease	p.Met9Arg	VAR_063436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063436	- Osteogenesis imperfecta type 9 (OI9) [MIM:259440]	SWISS	No Domain	N/A	4758950,NP_000933
5498	1709742	Disease	p.Arg59Trp	VAR_003686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003686	- Variegate porphyria (VP) [MIM:176200]	SWISS	63	COG1233	170650615,NP_001116236|4506001,NP_000300
5498	1709742	Disease	p.Arg59Trp	VAR_003686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003686	- Variegate porphyria (VP) [MIM:176200]	SWISS	68	COG1232	170650615,NP_001116236|4506001,NP_000300
5498	1709742	Disease	p.Arg59Trp	VAR_003686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003686	- Variegate porphyria (VP) [MIM:176200]	SWISS	70	pfam01593	170650615,NP_001116236|4506001,NP_000300
5498	1709742	Disease	p.Arg152Cys	VAR_003687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003687	- Variegate porphyria (VP) [MIM:176200]	SWISS	187	COG1233	170650615,NP_001116236|4506001,NP_000300
5498	1709742	Disease	p.Arg152Cys	VAR_003687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003687	- Variegate porphyria (VP) [MIM:176200]	SWISS	173	COG1232	170650615,NP_001116236|4506001,NP_000300
5498	1709742	Disease	p.Arg152Cys	VAR_003687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003687	- Variegate porphyria (VP) [MIM:176200]	SWISS	182	pfam01593	170650615,NP_001116236|4506001,NP_000300
5498	1709742	Disease	p.Gly232Arg	VAR_003689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003689	- Variegate porphyria (VP) [MIM:176200]	SWISS	307	COG1233	170650615,NP_001116236|4506001,NP_000300
5498	1709742	Disease	p.Gly232Arg	VAR_003689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003689	- Variegate porphyria (VP) [MIM:176200]	SWISS	280	COG1232	170650615,NP_001116236|4506001,NP_000300
5498	1709742	Disease	p.Gly232Arg	VAR_003689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003689	- Variegate porphyria (VP) [MIM:176200]	SWISS	366	pfam01593	170650615,NP_001116236|4506001,NP_000300
5506	298286906	Disease	p.Ala931Glu	VAR_019699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019699	rs35449651 Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	No Domain	N/A	167614502,NP_002702
5538	1709747	Disease	p.Trp38Cys	VAR_058434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058434	- Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]	SWISS	11	pfam02089	4506031,NP_000301
5538	1709747	Disease	p.His39Gln	VAR_005548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005548	- Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]	SWISS	12	pfam02089	4506031,NP_000301
5538	1709747	Disease	p.Gly42Glu	VAR_005549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005549	- Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]	SWISS	15	pfam02089	4506031,NP_000301
5538	1709747	Disease	p.Thr75Pro	VAR_005550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005550	- Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]	SWISS	48	pfam02089	4506031,NP_000301
5538	1709747	Disease	p.Asp79Gly	VAR_005551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005551	- Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]	SWISS	52	pfam02089	4506031,NP_000301
5538	1709747	Disease	p.Gly108Arg	VAR_018511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018511	- Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]	SWISS	81	pfam02089	4506031,NP_000301
5538	1709747	Disease	p.Tyr109Asp	VAR_005552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005552	- Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]	SWISS	82	pfam02089	4506031,NP_000301
5538	1709747	Disease	p.Arg122Trp	VAR_005553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005553	- Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]	SWISS	95	pfam02089	4506031,NP_000301
5538	1709747	Disease	p.Gln177Glu	VAR_005555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005555	- Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]	SWISS	150	pfam02089	4506031,NP_000301
5538	1709747	Disease	p.Val181Leu	VAR_005556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005556	- Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]	SWISS	154	pfam02089	4506031,NP_000301
5538	1709747	Disease	p.Val181Met	VAR_005557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005557	- Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]	SWISS	154	pfam02089	4506031,NP_000301
5538	1709747	Disease	p.Leu219Gln	VAR_005558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005558	- Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]	SWISS	192	pfam02089	4506031,NP_000301
5538	1709747	Disease	p.Tyr247His	VAR_005559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005559	- Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]	SWISS	220	pfam02089	4506031,NP_000301
5538	1709747	Disease	p.Gly250Val	VAR_005560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005560	- Neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]	SWISS	223	pfam02089	4506031,NP_000301
768206	121939885	Disease	p.Cys2Tyr	VAR_031122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031122	- Retinitis pigmentosa type 36 (RP36) [MIM:610599]	SWISS	No Domain	N/A	117606326,NP_001071088
768206	121939885	Disease	p.Val30Met	VAR_031124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031124	- Retinitis pigmentosa type 36 (RP36) [MIM:610599]	SWISS	No Domain	N/A	117606326,NP_001071088
5551	129819	Disease	p.Val50Met	VAR_010772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010772	- Hemophagocytic lymphohistiocytosis familial type 2 (FHL2) [MIM:603553]	SWISS	No Domain	N/A	133908621,NP_001076585|40254808,NP_005032
5551	129819	Disease	p.Val183Gly	VAR_010744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010744	- Hemophagocytic lymphohistiocytosis familial type 2 (FHL2) [MIM:603553]	SWISS	50	pfam01823	133908621,NP_001076585|40254808,NP_005032
5551	129819	Disease	p.Val183Gly	VAR_010744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010744	- Hemophagocytic lymphohistiocytosis familial type 2 (FHL2) [MIM:603553]	SWISS	17	smart00457	133908621,NP_001076585|40254808,NP_005032
5551	129819	Disease	p.Ile224Asn	VAR_010774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010774	- Hemophagocytic lymphohistiocytosis familial type 2 (FHL2) [MIM:603553]	SWISS	137	pfam01823	133908621,NP_001076585|40254808,NP_005032
5551	129819	Disease	p.Ile224Asn	VAR_010774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010774	- Hemophagocytic lymphohistiocytosis familial type 2 (FHL2) [MIM:603553]	SWISS	78	smart00457	133908621,NP_001076585|40254808,NP_005032
5551	129819	Disease	p.Arg225Trp	VAR_010745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010745	rs28933973 Hemophagocytic lymphohistiocytosis familial type 2 (FHL2) [MIM:603553]	SWISS	138	pfam01823	133908621,NP_001076585|40254808,NP_005032
5551	129819	Disease	p.Arg225Trp	VAR_010745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010745	rs28933973 Hemophagocytic lymphohistiocytosis familial type 2 (FHL2) [MIM:603553]	SWISS	79	smart00457	133908621,NP_001076585|40254808,NP_005032
5551	129819	Disease	p.Asn252Ser	VAR_010746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010746	rs28933375 Hemophagocytic lymphohistiocytosis familial type 2 (FHL2) [MIM:603553]	SWISS	172	pfam01823	133908621,NP_001076585|40254808,NP_005032
5551	129819	Disease	p.Asn252Ser	VAR_010746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010746	rs28933375 Hemophagocytic lymphohistiocytosis familial type 2 (FHL2) [MIM:603553]	SWISS	107	smart00457	133908621,NP_001076585|40254808,NP_005032
5551	129819	Disease	p.Cys279Tyr	VAR_010747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010747	- Hemophagocytic lymphohistiocytosis familial type 2 (FHL2) [MIM:603553]	SWISS	239	pfam01823	133908621,NP_001076585|40254808,NP_005032
5551	129819	Disease	p.Cys279Tyr	VAR_010747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010747	- Hemophagocytic lymphohistiocytosis familial type 2 (FHL2) [MIM:603553]	SWISS	159	smart00457	133908621,NP_001076585|40254808,NP_005032
5551	129819	Disease	p.Pro345Leu	VAR_010748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010748	rs28933374 Hemophagocytic lymphohistiocytosis familial type 2 (FHL2) [MIM:603553]	SWISS	379	pfam01823	133908621,NP_001076585|40254808,NP_005032
5551	129819	Disease	p.Pro345Leu	VAR_010748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010748	rs28933374 Hemophagocytic lymphohistiocytosis familial type 2 (FHL2) [MIM:603553]	SWISS	265	smart00457	133908621,NP_001076585|40254808,NP_005032
5551	129819	Disease	p.Gly429Glu	VAR_010749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010749	- Hemophagocytic lymphohistiocytosis familial type 2 (FHL2) [MIM:603553]	SWISS	14	smart00239	133908621,NP_001076585|40254808,NP_005032
5551	129819	Disease	p.Gly429Glu	VAR_010749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010749	- Hemophagocytic lymphohistiocytosis familial type 2 (FHL2) [MIM:603553]	SWISS	13	cd00030	133908621,NP_001076585|40254808,NP_005032
5551	129819	Disease	p.Gly429Glu	VAR_010749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010749	- Hemophagocytic lymphohistiocytosis familial type 2 (FHL2) [MIM:603553]	SWISS	13	pfam00168	133908621,NP_001076585|40254808,NP_005032
5551	129819	Disease	p.Gly429Glu	VAR_010749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010749	- Hemophagocytic lymphohistiocytosis familial type 2 (FHL2) [MIM:603553]	SWISS	14	cd08376	133908621,NP_001076585|40254808,NP_005032
5551	129819	Disease	p.Gly429Glu	VAR_010749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010749	- Hemophagocytic lymphohistiocytosis familial type 2 (FHL2) [MIM:603553]	SWISS	44	cd04032	133908621,NP_001076585|40254808,NP_005032
144165	59800163	Disease	p.Arg104Gln	VAR_054663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054663	- Progressive myoclonic epilepsy type 1B (EPM1B) [MIM:612437]	SWISS	95	pfam06297	222136684,NP_001138355|222136678,NP_694571|222136680,NP_001138353|222136682,NP_001138354
51422	14285344	Disease	p.Arg302Gln	VAR_013264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013264	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	85	COG0517	33186925,NP_057287
51422	14285344	Disease	p.Arg302Gln	VAR_013264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013264	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	29	smart00116	33186925,NP_057287
51422	14285344	Disease	p.Arg302Gln	VAR_013264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013264	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	38	cd02205	33186925,NP_057287
51422	14285344	Disease	p.Arg302Gln	VAR_013264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013264	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	27	cd04618	33186925,NP_057287
51422	14285344	Disease	p.Arg302Gln	VAR_013264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013264	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	85	COG0517	33186925,NP_057287
51422	14285344	Disease	p.Arg302Gln	VAR_013264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013264	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	29	smart00116	33186925,NP_057287
51422	14285344	Disease	p.Arg302Gln	VAR_013264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013264	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	38	cd02205	33186925,NP_057287
51422	14285344	Disease	p.Arg302Gln	VAR_013264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013264	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	27	cd04618	33186925,NP_057287
51422	14285344	Disease	p.His383Arg	VAR_013266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013266	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	25	cd04584	33186925,NP_057287
51422	14285344	Disease	p.His383Arg	VAR_013266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013266	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	26	cd04627	33186925,NP_057287
51422	14285344	Disease	p.His383Arg	VAR_013266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013266	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	25	cd04585	33186925,NP_057287
51422	14285344	Disease	p.His383Arg	VAR_013266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013266	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	25	cd04803	33186925,NP_057287
51422	14285344	Disease	p.His383Arg	VAR_013266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013266	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	25	cd04633	33186925,NP_057287
51422	14285344	Disease	p.His383Arg	VAR_013266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013266	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	25	cd04637	33186925,NP_057287
51422	14285344	Disease	p.His383Arg	VAR_013266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013266	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	25	cd04802	33186925,NP_057287
51422	14285344	Disease	p.His383Arg	VAR_013266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013266	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	26	cd04636	33186925,NP_057287
51422	14285344	Disease	p.His383Arg	VAR_013266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013266	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	383	COG0517	33186925,NP_057287
51422	14285344	Disease	p.His383Arg	VAR_013266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013266	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	29	smart00116	33186925,NP_057287
51422	14285344	Disease	p.His383Arg	VAR_013266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013266	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	67	pfam00571	33186925,NP_057287
51422	14285344	Disease	p.His383Arg	VAR_013266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013266	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	196	cd02205	33186925,NP_057287
51422	14285344	Disease	p.His383Arg	VAR_013266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013266	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	141	cd04618	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	VAR_013267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013267	rs28938173 Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	41	cd04584	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	VAR_013267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013267	rs28938173 Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	44	cd04627	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	VAR_013267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013267	rs28938173 Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	58	cd04585	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	VAR_013267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013267	rs28938173 Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	42	cd04803	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	VAR_013267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013267	rs28938173 Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	45	cd04633	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	VAR_013267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013267	rs28938173 Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	41	cd04637	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	VAR_013267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013267	rs28938173 Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	41	cd04802	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	VAR_013267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013267	rs28938173 Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	51	cd04636	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	VAR_013267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013267	rs28938173 Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	479	COG0517	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	VAR_013267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013267	rs28938173 Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	68	smart00116	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	VAR_013267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013267	rs28938173 Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	113	pfam00571	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	VAR_013267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013267	rs28938173 Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	220	cd02205	33186925,NP_057287
51422	14285344	Disease	p.Thr400Asn	VAR_013267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013267	rs28938173 Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	163	cd04618	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	VAR_013268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013268	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	199	COG0517	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	VAR_013268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013268	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	59	cd04601	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	VAR_013268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013268	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	57	cd04600	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	VAR_013268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013268	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	63	cd04590	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	VAR_013268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013268	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	61	cd04622	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	VAR_013268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013268	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	56	cd04641	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	VAR_013268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013268	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	50	cd04599	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	VAR_013268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013268	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	56	cd04634	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	VAR_013268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013268	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	55	cd04629	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	VAR_013268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013268	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	79	cd04642	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	VAR_013268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013268	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	76	cd04623	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	VAR_013268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013268	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	58_G	cd04611	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	VAR_013268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013268	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	56	cd04621	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	VAR_013268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013268	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	86_G	cd04800	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	VAR_013268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013268	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	66	cd04631	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	VAR_013268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013268	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	55	cd04588	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	VAR_013268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013268	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	96	cd02205	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	VAR_013268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013268	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	62	cd04612	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	VAR_013268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013268	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	50_G	cd04635	33186925,NP_057287
51422	14285344	Disease	p.Asn488Ile	VAR_013268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013268	- Cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CMH-WPWS) [MIM:600858]	SWISS	56	cd04586	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	384	COG0517	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	101	cd04601	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	113	cd04600	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	130	cd04590	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	99	cd04622	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	118	cd04641	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	84	cd04599	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	123	cd04634	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	96	cd04629	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	151	cd04642	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	124	cd04623	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	98	cd04611	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	119	cd04621	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	125	cd04800	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	115	cd04631	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	90	cd04588	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	197	cd02205	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	134	cd04612	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	100	cd04635	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	68	pfam00571	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	125	cd04586	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gly	VAR_032909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032909	- Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]	SWISS	30	smart00116	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	384	COG0517	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	101	cd04601	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	113	cd04600	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	130	cd04590	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	99	cd04622	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	118	cd04641	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	84	cd04599	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	123	cd04634	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	96	cd04629	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	151	cd04642	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	124	cd04623	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	98	cd04611	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	119	cd04621	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	125	cd04800	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	115	cd04631	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	90	cd04588	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	197	cd02205	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	134	cd04612	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	100	cd04635	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	68	pfam00571	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	125	cd04586	33186925,NP_057287
51422	14285344	Disease	p.Arg531Gln	VAR_013269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013269	- Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]	SWISS	30	smart00116	33186925,NP_057287
5573	125193	Disease	p.Ser9Asn	VAR_046894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046894	- Carney complex type 1 (CNC1) [MIM:160980]	SWISS	No Domain	N/A	47132581,NP_997636|4506063,NP_002725|47132583,NP_997637
5573	125193	Disease	p.Arg74Cys	VAR_046895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046895	- Carney complex type 1 (CNC1) [MIM:160980]	SWISS	No Domain	N/A	47132581,NP_997636|4506063,NP_002725|47132583,NP_997637
5573	125193	Disease	p.Arg146Ser	VAR_046896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046896	- Carney complex type 1 (CNC1) [MIM:160980]	SWISS	15	cd00038	47132581,NP_997636|4506063,NP_002725|47132583,NP_997637
5573	125193	Disease	p.Arg146Ser	VAR_046896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046896	- Carney complex type 1 (CNC1) [MIM:160980]	SWISS	10	smart00100	47132581,NP_997636|4506063,NP_002725|47132583,NP_997637
5573	125193	Disease	p.Arg146Ser	VAR_046896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046896	- Carney complex type 1 (CNC1) [MIM:160980]	SWISS	37	COG0664	47132581,NP_997636|4506063,NP_002725|47132583,NP_997637
5573	125193	Disease	p.Asp183Tyr	VAR_046897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046897	- Carney complex type 1 (CNC1) [MIM:160980]	SWISS	60	cd00038	47132581,NP_997636|4506063,NP_002725|47132583,NP_997637
5573	125193	Disease	p.Asp183Tyr	VAR_046897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046897	- Carney complex type 1 (CNC1) [MIM:160980]	SWISS	60	smart00100	47132581,NP_997636|4506063,NP_002725|47132583,NP_997637
5573	125193	Disease	p.Asp183Tyr	VAR_046897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046897	- Carney complex type 1 (CNC1) [MIM:160980]	SWISS	32	pfam00027	47132581,NP_997636|4506063,NP_002725|47132583,NP_997637
5573	125193	Disease	p.Asp183Tyr	VAR_046897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046897	- Carney complex type 1 (CNC1) [MIM:160980]	SWISS	114	COG0664	47132581,NP_997636|4506063,NP_002725|47132583,NP_997637
5573	125193	Disease	p.Ala213Asp	VAR_046898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046898	- Carney complex type 1 (CNC1) [MIM:160980]	SWISS	134	cd00038	47132581,NP_997636|4506063,NP_002725|47132583,NP_997637
5573	125193	Disease	p.Ala213Asp	VAR_046898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046898	- Carney complex type 1 (CNC1) [MIM:160980]	SWISS	171	smart00100	47132581,NP_997636|4506063,NP_002725|47132583,NP_997637
5573	125193	Disease	p.Ala213Asp	VAR_046898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046898	- Carney complex type 1 (CNC1) [MIM:160980]	SWISS	107	pfam00027	47132581,NP_997636|4506063,NP_002725|47132583,NP_997637
5573	125193	Disease	p.Ala213Asp	VAR_046898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046898	- Carney complex type 1 (CNC1) [MIM:160980]	SWISS	247	COG0664	47132581,NP_997636|4506063,NP_002725|47132583,NP_997637
5573	125193	Disease	p.Gly289Trp	VAR_046899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046899	- Carney complex type 1 (CNC1) [MIM:160980]	SWISS	363	COG0664	47132581,NP_997636|4506063,NP_002725|47132583,NP_997637
5573	125193	Disease	p.Gly289Trp	VAR_046899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046899	- Carney complex type 1 (CNC1) [MIM:160980]	SWISS	20	pfam00027	47132581,NP_997636|4506063,NP_002725|47132583,NP_997637
5573	125193	Disease	p.Gly289Trp	VAR_046899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046899	- Carney complex type 1 (CNC1) [MIM:160980]	SWISS	48	smart00100	47132581,NP_997636|4506063,NP_002725|47132583,NP_997637
5573	125193	Disease	p.Gly289Trp	VAR_046899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046899	- Carney complex type 1 (CNC1) [MIM:160980]	SWISS	48	cd00038	47132581,NP_997636|4506063,NP_002725|47132583,NP_997637
5582	462455	Disease	p.His101Tyr	VAR_017060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017060	- Spinocerebellar ataxia type 14 (SCA14) [MIM:605361]	SWISS	No Domain	N/A	13384594,NP_002730
5582	462455	Disease	p.Ser119Pro	VAR_017061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017061	- Spinocerebellar ataxia type 14 (SCA14) [MIM:605361]	SWISS	26	pfam00130	13384594,NP_002730
5582	462455	Disease	p.Ser119Pro	VAR_017061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017061	- Spinocerebellar ataxia type 14 (SCA14) [MIM:605361]	SWISS	29	smart00109	13384594,NP_002730
5582	462455	Disease	p.Ser119Pro	VAR_017061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017061	- Spinocerebellar ataxia type 14 (SCA14) [MIM:605361]	SWISS	25	cd00029	13384594,NP_002730
5582	462455	Disease	p.Gly128Asp	VAR_017062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017062	- Spinocerebellar ataxia type 14 (SCA14) [MIM:605361]	SWISS	46	pfam00130	13384594,NP_002730
5582	462455	Disease	p.Gly128Asp	VAR_017062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017062	- Spinocerebellar ataxia type 14 (SCA14) [MIM:605361]	SWISS	72	smart00109	13384594,NP_002730
5582	462455	Disease	p.Gly128Asp	VAR_017062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017062	- Spinocerebellar ataxia type 14 (SCA14) [MIM:605361]	SWISS	40	cd00029	13384594,NP_002730
8575	74735517	Disease	p.Pro222Leu	VAR_046213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046213	- Dystonia type 16 (DYT16) [MIM:612067]	SWISS	No Domain	N/A	4505581,NP_003681
5621	130912	Disease	p.Pro102Leu	VAR_006464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006464	- Gerstmann-Straussler disease (GSD) [MIM:137440]	SWISS	123	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Pro105Leu	VAR_006465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006465	- Gerstmann-Straussler disease (GSD) [MIM:137440]	SWISS	126	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gly131Val	VAR_014264	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014264	- Gerstmann-Straussler disease (GSD) [MIM:137440]	SWISS	152	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	VAR_006469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006469	- Creutzfeldt-Jakob disease (CJD) [MIM:123400]	SWISS	46	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	VAR_006469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006469	- Creutzfeldt-Jakob disease (CJD) [MIM:123400]	SWISS	200	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	VAR_006469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006469	- Fatal familial insomnia (FFI) [MIM:600072]	SWISS	46	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	VAR_006469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006469	- Fatal familial insomnia (FFI) [MIM:600072]	SWISS	200	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	VAR_006469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006469	- High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)	SWISS	46	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp178Asn	VAR_006469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006469	- High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)	SWISS	200	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val180Ile	VAR_006470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006470	- Creutzfeldt-Jakob disease (CJD) [MIM:123400]	SWISS	48	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val180Ile	VAR_006470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006470	- Creutzfeldt-Jakob disease (CJD) [MIM:123400]	SWISS	202	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val180Ile	VAR_006470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006470	- High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)	SWISS	48	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val180Ile	VAR_006470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006470	- High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)	SWISS	202	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.His187Arg	VAR_008746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008746	- Gerstmann-Straussler disease (GSD) [MIM:137440]	SWISS	55	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.His187Arg	VAR_008746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008746	- Gerstmann-Straussler disease (GSD) [MIM:137440]	SWISS	210	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu196Lys	VAR_008749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008749	- Creutzfeldt-Jakob disease (CJD) [MIM:123400]	SWISS	74	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu196Lys	VAR_008749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008749	- Creutzfeldt-Jakob disease (CJD) [MIM:123400]	SWISS	219	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu196Lys	VAR_008749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008749	- High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)	SWISS	74	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu196Lys	VAR_008749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008749	- High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)	SWISS	219	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Phe198Ser	VAR_006472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006472	- Gerstmann-Straussler disease (GSD) [MIM:137440]	SWISS	76	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Phe198Ser	VAR_006472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006472	- Gerstmann-Straussler disease (GSD) [MIM:137440]	SWISS	221	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu200Lys	VAR_006473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006473	- Creutzfeldt-Jakob disease (CJD) [MIM:123400]	SWISS	78	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu200Lys	VAR_006473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006473	- Creutzfeldt-Jakob disease (CJD) [MIM:123400]	SWISS	223	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu200Lys	VAR_006473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006473	- High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)	SWISS	78	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu200Lys	VAR_006473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006473	- High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)	SWISS	223	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp202Asn	VAR_008750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008750	- Gerstmann-Straussler disease (GSD) [MIM:137440]	SWISS	80	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Asp202Asn	VAR_008750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008750	- Gerstmann-Straussler disease (GSD) [MIM:137440]	SWISS	225	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val203Ile	VAR_008751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008751	- Creutzfeldt-Jakob disease (CJD) [MIM:123400]	SWISS	81	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val203Ile	VAR_008751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008751	- Creutzfeldt-Jakob disease (CJD) [MIM:123400]	SWISS	226	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val203Ile	VAR_008751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008751	- High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)	SWISS	81	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val203Ile	VAR_008751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008751	- High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)	SWISS	226	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg208His	VAR_006474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006474	- Creutzfeldt-Jakob disease (CJD) [MIM:123400]	SWISS	86	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg208His	VAR_006474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006474	- Creutzfeldt-Jakob disease (CJD) [MIM:123400]	SWISS	231	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg208His	VAR_006474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006474	- High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)	SWISS	86	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Arg208His	VAR_006474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006474	- High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)	SWISS	231	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val210Ile	VAR_006475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006475	- Creutzfeldt-Jakob disease (CJD) [MIM:123400]	SWISS	88	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val210Ile	VAR_006475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006475	- Creutzfeldt-Jakob disease (CJD) [MIM:123400]	SWISS	233	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val210Ile	VAR_006475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006475	- High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)	SWISS	88	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Val210Ile	VAR_006475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006475	- High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)	SWISS	233	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu211Gln	VAR_008752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008752	- Creutzfeldt-Jakob disease (CJD) [MIM:123400]	SWISS	89	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu211Gln	VAR_008752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008752	- Creutzfeldt-Jakob disease (CJD) [MIM:123400]	SWISS	234	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu211Gln	VAR_008752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008752	- High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)	SWISS	89	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Glu211Gln	VAR_008752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008752	- High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)	SWISS	234	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gln212Pro	VAR_008753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008753	- Gerstmann-Straussler disease (GSD) [MIM:137440]	SWISS	90	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gln212Pro	VAR_008753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008753	- Gerstmann-Straussler disease (GSD) [MIM:137440]	SWISS	235	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gln217Arg	VAR_006476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006476	- Gerstmann-Straussler disease (GSD) [MIM:137440]	SWISS	95	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Gln217Arg	VAR_006476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006476	- Gerstmann-Straussler disease (GSD) [MIM:137440]	SWISS	240	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Met232Arg	VAR_006478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006478	- Creutzfeldt-Jakob disease (CJD) [MIM:123400]	SWISS	111	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Met232Arg	VAR_006478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006478	- Creutzfeldt-Jakob disease (CJD) [MIM:123400]	SWISS	259	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Met232Arg	VAR_006478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006478	- High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)	SWISS	111	pfam00377	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5621	130912	Disease	p.Met232Arg	VAR_006478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006478	- High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)	SWISS	259	smart00157	34335270,NP_898902|122056628,NP_001073592|4506113,NP_000302|122056623,NP_001073590|122056625,NP_001073591
5624	131067	Disease	p.Arg32Cys	VAR_006635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006635	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	9	smart00069	4506115,NP_000303
5624	131067	Disease	p.Arg42Ser	VAR_055074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055074	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	22	smart00069	4506115,NP_000303
5624	131067	Disease	p.Arg57Trp	VAR_006642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006642	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	11	pfam00594	4506115,NP_000303
5624	131067	Disease	p.Arg57Trp	VAR_006642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006642	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	39	smart00069	4506115,NP_000303
5624	131067	Disease	p.Glu62Ala	VAR_006645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006645	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	16	pfam00594	4506115,NP_000303
5624	131067	Disease	p.Glu62Ala	VAR_006645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006645	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	44	smart00069	4506115,NP_000303
5624	131067	Disease	p.Val76Met	VAR_006646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006646	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	30	pfam00594	4506115,NP_000303
5624	131067	Disease	p.Val76Met	VAR_006646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006646	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	58	smart00069	4506115,NP_000303
5624	131067	Disease	p.Gly114Arg	VAR_006651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006651	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	39	cd00054	4506115,NP_000303
5624	131067	Disease	p.Gly114Arg	VAR_006651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006651	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	37	smart00179	4506115,NP_000303
5624	131067	Disease	p.Gly114Arg	VAR_006651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006651	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	21	pfam00008	4506115,NP_000303
5624	131067	Disease	p.Gly114Arg	VAR_006651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006651	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	30	smart00181	4506115,NP_000303
5624	131067	Disease	p.Gly114Arg	VAR_006651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006651	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	31	cd00053	4506115,NP_000303
5624	131067	Disease	p.Gly145Arg	VAR_006656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006656	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	15	smart00181	4506115,NP_000303
5624	131067	Disease	p.Ala178Pro	VAR_006660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006660	- Protein C deficiency autosomal recessive (ARPROCD) [MIM:612304]	SWISS	No Domain	N/A	4506115,NP_000303
5624	131067	Disease	p.Pro210Leu	VAR_006664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006664	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	No Domain	N/A	4506115,NP_000303
5624	131067	Disease	p.Arg211Trp	VAR_006665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006665	rs28933986 Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	No Domain	N/A	4506115,NP_000303
5624	131067	Disease	p.Arg220Gln	VAR_006669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006669	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	16	smart00020	4506115,NP_000303
5624	131067	Disease	p.Arg220Gln	VAR_006669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006669	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	9	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Arg220Gln	VAR_006669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006669	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	9	cd00190	4506115,NP_000303
5624	131067	Disease	p.Arg220Trp	VAR_006668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006668	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	16	smart00020	4506115,NP_000303
5624	131067	Disease	p.Arg220Trp	VAR_006668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006668	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	9	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Arg220Trp	VAR_006668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006668	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	9	cd00190	4506115,NP_000303
5624	131067	Disease	p.Ile243Thr	VAR_006671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006671	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	55	smart00020	4506115,NP_000303
5624	131067	Disease	p.Ile243Thr	VAR_006671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006671	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	44	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Ile243Thr	VAR_006671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006671	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	49	cd00190	4506115,NP_000303
5624	131067	Disease	p.Arg272Cys	VAR_006677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006677	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	111	smart00020	4506115,NP_000303
5624	131067	Disease	p.Arg272Cys	VAR_006677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006677	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	98	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Arg272Cys	VAR_006677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006677	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	97	cd00190	4506115,NP_000303
5624	131067	Disease	p.Pro289Leu	VAR_006679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006679	- Protein C deficiency autosomal recessive (ARPROCD) [MIM:612304]	SWISS	191	smart00020	4506115,NP_000303
5624	131067	Disease	p.Pro289Leu	VAR_006679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006679	- Protein C deficiency autosomal recessive (ARPROCD) [MIM:612304]	SWISS	122	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Pro289Leu	VAR_006679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006679	- Protein C deficiency autosomal recessive (ARPROCD) [MIM:612304]	SWISS	129	cd00190	4506115,NP_000303
5624	131067	Disease	p.Pro321Leu	VAR_006687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006687	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	297	smart00020	4506115,NP_000303
5624	131067	Disease	p.Pro321Leu	VAR_006687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006687	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	173	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Pro321Leu	VAR_006687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006687	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	184	cd00190	4506115,NP_000303
5624	131067	Disease	p.Gly324Arg	VAR_006688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006688	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	329	smart00020	4506115,NP_000303
5624	131067	Disease	p.Gly324Arg	VAR_006688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006688	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	177	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Gly324Arg	VAR_006688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006688	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	187	cd00190	4506115,NP_000303
5624	131067	Disease	p.Arg328Cys	VAR_006689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006689	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	336	smart00020	4506115,NP_000303
5624	131067	Disease	p.Arg328Cys	VAR_006689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006689	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	181	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Arg328Cys	VAR_006689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006689	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	213	cd00190	4506115,NP_000303
5624	131067	Disease	p.Arg328His	VAR_006690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006690	- Protein C deficiency autosomal recessive (ARPROCD) [MIM:612304]	SWISS	336	smart00020	4506115,NP_000303
5624	131067	Disease	p.Arg328His	VAR_006690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006690	- Protein C deficiency autosomal recessive (ARPROCD) [MIM:612304]	SWISS	181	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Arg328His	VAR_006690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006690	- Protein C deficiency autosomal recessive (ARPROCD) [MIM:612304]	SWISS	213	cd00190	4506115,NP_000303
5624	131067	Disease	p.Gly334Ser	VAR_006691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006691	- Protein C deficiency autosomal recessive (ARPROCD) [MIM:612304]	SWISS	346	smart00020	4506115,NP_000303
5624	131067	Disease	p.Gly334Ser	VAR_006691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006691	- Protein C deficiency autosomal recessive (ARPROCD) [MIM:612304]	SWISS	187	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Gly334Ser	VAR_006691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006691	- Protein C deficiency autosomal recessive (ARPROCD) [MIM:612304]	SWISS	219	cd00190	4506115,NP_000303
5624	131067	Disease	p.Thr340Met	VAR_006692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006692	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	358	smart00020	4506115,NP_000303
5624	131067	Disease	p.Thr340Met	VAR_006692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006692	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	193	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Thr340Met	VAR_006692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006692	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	225	cd00190	4506115,NP_000303
5624	131067	Disease	p.Val367Ala	VAR_006695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006695	- Protein C deficiency autosomal recessive (ARPROCD) [MIM:612304]	SWISS	402	smart00020	4506115,NP_000303
5624	131067	Disease	p.Val367Ala	VAR_006695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006695	- Protein C deficiency autosomal recessive (ARPROCD) [MIM:612304]	SWISS	224	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Val367Ala	VAR_006695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006695	- Protein C deficiency autosomal recessive (ARPROCD) [MIM:612304]	SWISS	266	cd00190	4506115,NP_000303
5624	131067	Disease	p.Pro369Leu	VAR_006696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006696	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	404	smart00020	4506115,NP_000303
5624	131067	Disease	p.Pro369Leu	VAR_006696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006696	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	226	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Pro369Leu	VAR_006696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006696	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	268	cd00190	4506115,NP_000303
5624	131067	Disease	p.Gly392Arg	VAR_006700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006700	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	469	smart00020	4506115,NP_000303
5624	131067	Disease	p.Gly392Arg	VAR_006700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006700	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	275	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Gly392Arg	VAR_006700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006700	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	315	cd00190	4506115,NP_000303
5624	131067	Disease	p.Asp401Asn	VAR_006702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006702	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	493	smart00020	4506115,NP_000303
5624	131067	Disease	p.Asp401Asn	VAR_006702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006702	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	284	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Asp401Asn	VAR_006702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006702	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	353	cd00190	4506115,NP_000303
5624	131067	Disease	p.Gly418Asp	VAR_006703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006703	- Protein C deficiency autosomal recessive (ARPROCD) [MIM:612304]	SWISS	526	smart00020	4506115,NP_000303
5624	131067	Disease	p.Gly418Asp	VAR_006703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006703	- Protein C deficiency autosomal recessive (ARPROCD) [MIM:612304]	SWISS	305	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Gly418Asp	VAR_006703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006703	- Protein C deficiency autosomal recessive (ARPROCD) [MIM:612304]	SWISS	374	cd00190	4506115,NP_000303
5624	131067	Disease	p.Gly423Ser	VAR_006704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006704	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	533	smart00020	4506115,NP_000303
5624	131067	Disease	p.Gly423Ser	VAR_006704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006704	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	314	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Gly423Ser	VAR_006704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006704	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	379	cd00190	4506115,NP_000303
5624	131067	Disease	p.Cys426Tyr	VAR_006705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006705	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	542	smart00020	4506115,NP_000303
5624	131067	Disease	p.Cys426Tyr	VAR_006705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006705	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	319	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Cys426Tyr	VAR_006705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006705	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	388	cd00190	4506115,NP_000303
5624	131067	Disease	p.Thr436Asn	VAR_006707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006707	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	564	smart00020	4506115,NP_000303
5624	131067	Disease	p.Thr436Asn	VAR_006707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006707	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	334	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Thr436Asn	VAR_006707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006707	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	412	cd00190	4506115,NP_000303
5624	131067	Disease	p.Tyr441His	VAR_006708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006708	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	571	smart00020	4506115,NP_000303
5624	131067	Disease	p.Tyr441His	VAR_006708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006708	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	343	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Tyr441His	VAR_006708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006708	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	419	cd00190	4506115,NP_000303
5624	131067	Disease	p.Trp444Cys	VAR_006709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006709	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	574	smart00020	4506115,NP_000303
5624	131067	Disease	p.Trp444Cys	VAR_006709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006709	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	346	pfam00089	4506115,NP_000303
5624	131067	Disease	p.Trp444Cys	VAR_006709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006709	- Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]	SWISS	422	cd00190	4506115,NP_000303
5625	119364639	Disease	p.Leu357Pro	VAR_029571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029571	rs2904551 Hyperprolinemia type 1 (HP-1) [MIM:239500]	SWISS	255	pfam01619	NULL
60675	18202953	Disease	p.Gly32Arg	VAR_030955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030955	- Kallmann syndrome type 4 (KAL4) [MIM:610628]	SWISS	37	pfam06607	187167261,NP_001119600
60675	18202953	Disease	p.Arg73Cys	VAR_030956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030956	- Kallmann syndrome type 4 (KAL4) [MIM:610628]	SWISS	78	pfam06607	187167261,NP_001119600
128674	33112425	Disease	p.Arg85His	VAR_030958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030958	- Kallmann syndrome type 3 (KAL3) [MIM:244200]	SWISS	10	pfam00001	21426829,NP_658986
128674	33112425	Disease	p.Arg164Gln	VAR_030959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030959	- Kallmann syndrome type 3 (KAL3) [MIM:244200]	SWISS	103	pfam00001	21426829,NP_658986
128674	33112425	Disease	p.Leu173Arg	VAR_030960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030960	- Kallmann syndrome type 3 (KAL3) [MIM:244200]	SWISS	116	pfam00001	21426829,NP_658986
128674	33112425	Disease	p.Trp178Ser	VAR_030961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030961	- Kallmann syndrome type 3 (KAL3) [MIM:244200]	SWISS	121	pfam00001	21426829,NP_658986
128674	33112425	Disease	p.Gln210Arg	VAR_030962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030962	- Kallmann syndrome type 3 (KAL3) [MIM:244200]	SWISS	161	pfam00001	21426829,NP_658986
128674	33112425	Disease	p.Pro290Ser	VAR_030964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030964	- Kallmann syndrome type 3 (KAL3) [MIM:244200]	SWISS	381	pfam00001	21426829,NP_658986
128674	33112425	Disease	p.Met323Ile	VAR_030965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030965	- Kallmann syndrome type 3 (KAL3) [MIM:244200]	SWISS	420	pfam00001	21426829,NP_658986
8842	13124442	Disease	p.Arg373Cys	VAR_057961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057961	- Cone-rod dystrophy type 12 (CORD12) [MIM:612657]	SWISS	415	pfam05478	5174387,NP_006008
8842	13124442	Disease	p.Arg373Cys	VAR_057961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057961	- Retinal macular dystrophy type 2 (MCDR2) [MIM:608051]	SWISS	415	pfam05478	5174387,NP_006008
8842	13124442	Disease	p.Arg373Cys	VAR_057961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057961	- Stargardt disease type 4 (STGD4) [MIM:603786]	SWISS	415	pfam05478	5174387,NP_006008
5626	311033413	Disease	p.Arg73Cys	VAR_003768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003768	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	4	cd00086	NULL
5626	311033413	Disease	p.Arg73Cys	VAR_003768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003768	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	4	smart00389	NULL
5626	311033413	Disease	p.Arg73Cys	VAR_003768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003768	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	4	pfam00046	NULL
5626	311033413	Disease	p.Arg73Cys	VAR_003768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003768	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	57_G	COG5576	NULL
5626	311033413	Disease	p.Arg73His	VAR_012746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012746	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	4	cd00086	NULL
5626	311033413	Disease	p.Arg73His	VAR_012746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012746	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	4	smart00389	NULL
5626	311033413	Disease	p.Arg73His	VAR_012746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012746	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	4	pfam00046	NULL
5626	311033413	Disease	p.Arg73His	VAR_012746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012746	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	57_G	COG5576	NULL
5626	311033413	Disease	p.Phe88Ser	VAR_063235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063235	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	19	cd00086	NULL
5626	311033413	Disease	p.Phe88Ser	VAR_063235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063235	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	24	smart00389	NULL
5626	311033413	Disease	p.Phe88Ser	VAR_063235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063235	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	19	pfam00046	NULL
5626	311033413	Disease	p.Phe88Ser	VAR_063235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063235	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	70	COG5576	NULL
5626	311033413	Disease	p.Arg99Gln	VAR_063236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063236	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	41	cd00086	NULL
5626	311033413	Disease	p.Arg99Gln	VAR_063236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063236	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	49	smart00389	NULL
5626	311033413	Disease	p.Arg99Gln	VAR_063236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063236	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	35	pfam00046	NULL
5626	311033413	Disease	p.Arg99Gln	VAR_063236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063236	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	81	COG5576	NULL
5626	311033413	Disease	p.Phe117Ile	VAR_003769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003769	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	80	cd00086	NULL
5626	311033413	Disease	p.Phe117Ile	VAR_003769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003769	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	88	smart00389	NULL
5626	311033413	Disease	p.Phe117Ile	VAR_003769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003769	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	58	pfam00046	NULL
5626	311033413	Disease	p.Phe117Ile	VAR_003769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003769	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	101	COG5576	NULL
5626	311033413	Disease	p.Arg120Cys	VAR_003770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003770	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	83	cd00086	NULL
5626	311033413	Disease	p.Arg120Cys	VAR_003770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003770	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	91	smart00389	NULL
5626	311033413	Disease	p.Arg120Cys	VAR_003770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003770	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	61	pfam00046	NULL
5626	311033413	Disease	p.Arg120Cys	VAR_003770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003770	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	104	COG5576	NULL
5626	311033413	Disease	p.Arg125Trp	VAR_054973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054973	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	88	cd00086	NULL
5626	311033413	Disease	p.Arg125Trp	VAR_054973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054973	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	66	pfam00046	NULL
5626	311033413	Disease	p.Arg125Trp	VAR_054973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054973	- Pituitary hormone deficiency combined type 2 (CPHD2) [MIM:262600]	SWISS	109	COG5576	NULL
5627	131086	Disease	p.Leu15His	VAR_046802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046802	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Val18Glu	VAR_046803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046803	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Arg40Leu	VAR_046804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046804	rs7614835 Protein S deficiency (PROS1D) [MIM:612336]	SWISS	21	smart00069	192447438,NP_000304
5627	131086	Disease	p.Arg41His	VAR_046805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046805	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	22	smart00069	192447438,NP_000304
5627	131086	Disease	p.Lys50Glu	VAR_046806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046806	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	5	pfam00594	192447438,NP_000304
5627	131086	Disease	p.Lys50Glu	VAR_046806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046806	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	32	smart00069	192447438,NP_000304
5627	131086	Disease	p.Gly52Asp	VAR_046807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046807	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	7	pfam00594	192447438,NP_000304
5627	131086	Disease	p.Gly52Asp	VAR_046807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046807	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	34	smart00069	192447438,NP_000304
5627	131086	Disease	p.Glu67Ala	VAR_046808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046808	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	22	pfam00594	192447438,NP_000304
5627	131086	Disease	p.Glu67Ala	VAR_046808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046808	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	50	smart00069	192447438,NP_000304
5627	131086	Disease	p.Ala68Asp	VAR_046809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046809	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	23	pfam00594	192447438,NP_000304
5627	131086	Disease	p.Ala68Asp	VAR_046809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046809	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	51	smart00069	192447438,NP_000304
5627	131086	Disease	p.Phe72Cys	VAR_046810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046810	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	27	pfam00594	192447438,NP_000304
5627	131086	Disease	p.Phe72Cys	VAR_046810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046810	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	55	smart00069	192447438,NP_000304
5627	131086	Disease	p.Thr78Met	VAR_014666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014666	rs6122 Protein S deficiency (PROS1D) [MIM:612336]	SWISS	33	pfam00594	192447438,NP_000304
5627	131086	Disease	p.Thr78Met	VAR_014666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014666	rs6122 Protein S deficiency (PROS1D) [MIM:612336]	SWISS	61	smart00069	192447438,NP_000304
5627	131086	Disease	p.Val87Leu	VAR_046812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046812	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Cys88Tyr	VAR_046813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046813	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Arg90Cys	VAR_046814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046814	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Arg90His	VAR_046815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046815	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Gly95Glu	VAR_046816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046816	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Gly95Arg	VAR_046817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046817	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Arg101Cys	VAR_046819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046819	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Arg111Ser	VAR_046820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046820	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Cys121Tyr	VAR_046821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046821	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	5	smart00179	192447438,NP_000304
5627	131086	Disease	p.Cys121Tyr	VAR_046821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046821	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	2	cd00053	192447438,NP_000304
5627	131086	Disease	p.Cys121Tyr	VAR_046821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046821	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	2	smart00181	192447438,NP_000304
5627	131086	Disease	p.Cys121Tyr	VAR_046821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046821	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	5	cd00054	192447438,NP_000304
5627	131086	Disease	p.Asp129Gly	VAR_046822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046822	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	13	pfam00008	192447438,NP_000304
5627	131086	Disease	p.Asp129Gly	VAR_046822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046822	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	28	smart00179	192447438,NP_000304
5627	131086	Disease	p.Asp129Gly	VAR_046822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046822	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	22	cd00053	192447438,NP_000304
5627	131086	Disease	p.Asp129Gly	VAR_046822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046822	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	20	smart00181	192447438,NP_000304
5627	131086	Disease	p.Asp129Gly	VAR_046822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046822	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	31	cd00054	192447438,NP_000304
5627	131086	Disease	p.Thr144Asn	VAR_046823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046823	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	36	pfam00008	192447438,NP_000304
5627	131086	Disease	p.Thr144Asn	VAR_046823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046823	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	49	smart00179	192447438,NP_000304
5627	131086	Disease	p.Thr144Asn	VAR_046823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046823	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	52	cd00053	192447438,NP_000304
5627	131086	Disease	p.Thr144Asn	VAR_046823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046823	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	56	smart00181	192447438,NP_000304
5627	131086	Disease	p.Thr144Asn	VAR_046823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046823	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	54	cd00054	192447438,NP_000304
5627	131086	Disease	p.Trp149Cys	VAR_046824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046824	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	46	pfam00008	192447438,NP_000304
5627	131086	Disease	p.Trp149Cys	VAR_046824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046824	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	62	smart00179	192447438,NP_000304
5627	131086	Disease	p.Trp149Cys	VAR_046824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046824	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	65	cd00053	192447438,NP_000304
5627	131086	Disease	p.Trp149Cys	VAR_046824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046824	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	66	smart00181	192447438,NP_000304
5627	131086	Disease	p.Trp149Cys	VAR_046824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046824	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	69	cd00054	192447438,NP_000304
5627	131086	Disease	p.Asp157Gly	VAR_046825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046825	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Cys161Gly	VAR_046826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046826	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	5	cd00054	192447438,NP_000304
5627	131086	Disease	p.Cys161Gly	VAR_046826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046826	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	5	smart00179	192447438,NP_000304
5627	131086	Disease	p.Cys161Gly	VAR_046826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046826	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	5	pfam07645	192447438,NP_000304
5627	131086	Disease	p.Cys161Gly	VAR_046826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046826	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	2	cd00053	192447438,NP_000304
5627	131086	Disease	p.Cys161Gly	VAR_046826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046826	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	2	smart00181	192447438,NP_000304
5627	131086	Disease	p.Asn166Tyr	VAR_046827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046827	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	10	cd00054	192447438,NP_000304
5627	131086	Disease	p.Asn166Tyr	VAR_046827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046827	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	20	smart00179	192447438,NP_000304
5627	131086	Disease	p.Asn166Tyr	VAR_046827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046827	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	12	pfam07645	192447438,NP_000304
5627	131086	Disease	p.Asn166Tyr	VAR_046827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046827	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	7	cd00053	192447438,NP_000304
5627	131086	Disease	p.Asn166Tyr	VAR_046827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046827	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	7	smart00181	192447438,NP_000304
5627	131086	Disease	p.Cys175Phe	VAR_046829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046829	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	36	cd00054	192447438,NP_000304
5627	131086	Disease	p.Cys175Phe	VAR_046829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046829	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	34	smart00179	192447438,NP_000304
5627	131086	Disease	p.Cys175Phe	VAR_046829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046829	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	23	pfam07645	192447438,NP_000304
5627	131086	Disease	p.Cys175Phe	VAR_046829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046829	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	28	cd00053	192447438,NP_000304
5627	131086	Disease	p.Cys175Phe	VAR_046829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046829	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	27	smart00181	192447438,NP_000304
5627	131086	Disease	p.Cys186Tyr	VAR_046830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046830	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	60	cd00054	192447438,NP_000304
5627	131086	Disease	p.Cys186Tyr	VAR_046830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046830	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	55	smart00179	192447438,NP_000304
5627	131086	Disease	p.Cys186Tyr	VAR_046830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046830	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	38	pfam07645	192447438,NP_000304
5627	131086	Disease	p.Cys186Tyr	VAR_046830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046830	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	58	cd00053	192447438,NP_000304
5627	131086	Disease	p.Cys186Tyr	VAR_046830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046830	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	57	smart00181	192447438,NP_000304
5627	131086	Disease	p.Lys196Glu	VAR_005566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005566	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	86	cd00054	192447438,NP_000304
5627	131086	Disease	p.Lys196Glu	VAR_005566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005566	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	80	smart00179	192447438,NP_000304
5627	131086	Disease	p.Lys196Glu	VAR_005566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005566	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	54	pfam07645	192447438,NP_000304
5627	131086	Disease	p.Lys196Glu	VAR_005566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005566	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	82	cd00053	192447438,NP_000304
5627	131086	Disease	p.Lys196Glu	VAR_005566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005566	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	79	smart00181	192447438,NP_000304
5627	131086	Disease	p.Glu204Gly	VAR_046831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046831	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	4	pfam07645	192447438,NP_000304
5627	131086	Disease	p.Glu204Gly	VAR_046831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046831	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	4	cd00054	192447438,NP_000304
5627	131086	Disease	p.Glu204Gly	VAR_046831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046831	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	4	smart00179	192447438,NP_000304
5627	131086	Disease	p.Arg233Lys	VAR_046832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046832	rs41267007 Protein S deficiency (PROS1D) [MIM:612336]	SWISS	67	smart00181	192447438,NP_000304
5627	131086	Disease	p.Arg233Lys	VAR_046832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046832	rs41267007 Protein S deficiency (PROS1D) [MIM:612336]	SWISS	66	cd00053	192447438,NP_000304
5627	131086	Disease	p.Arg233Lys	VAR_046832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046832	rs41267007 Protein S deficiency (PROS1D) [MIM:612336]	SWISS	42	pfam00008	192447438,NP_000304
5627	131086	Disease	p.Arg233Lys	VAR_046832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046832	rs41267007 Protein S deficiency (PROS1D) [MIM:612336]	SWISS	43	pfam07645	192447438,NP_000304
5627	131086	Disease	p.Arg233Lys	VAR_046832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046832	rs41267007 Protein S deficiency (PROS1D) [MIM:612336]	SWISS	70	cd00054	192447438,NP_000304
5627	131086	Disease	p.Arg233Lys	VAR_046832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046832	rs41267007 Protein S deficiency (PROS1D) [MIM:612336]	SWISS	64	smart00179	192447438,NP_000304
5627	131086	Disease	p.Cys241Ser	VAR_046833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046833	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	82	smart00181	192447438,NP_000304
5627	131086	Disease	p.Cys241Ser	VAR_046833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046833	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	85	cd00053	192447438,NP_000304
5627	131086	Disease	p.Cys241Ser	VAR_046833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046833	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	89	cd00054	192447438,NP_000304
5627	131086	Disease	p.Cys241Ser	VAR_046833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046833	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	83	smart00179	192447438,NP_000304
5627	131086	Disease	p.Asp243Asn	VAR_046834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046834	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Asp245Gly	VAR_046835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046835	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	3	cd00054	192447438,NP_000304
5627	131086	Disease	p.Asp245Gly	VAR_046835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046835	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	3	smart00179	192447438,NP_000304
5627	131086	Disease	p.Cys247Gly	VAR_046836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046836	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	2	smart00181	192447438,NP_000304
5627	131086	Disease	p.Cys247Gly	VAR_046836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046836	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	2	cd00053	192447438,NP_000304
5627	131086	Disease	p.Cys247Gly	VAR_046836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046836	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	5	cd00054	192447438,NP_000304
5627	131086	Disease	p.Cys247Gly	VAR_046836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046836	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	5	smart00179	192447438,NP_000304
5627	131086	Disease	p.Glu249Lys	VAR_046837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046837	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	4	smart00181	192447438,NP_000304
5627	131086	Disease	p.Glu249Lys	VAR_046837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046837	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	16	cd00053	192447438,NP_000304
5627	131086	Disease	p.Glu249Lys	VAR_046837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046837	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	7	cd00054	192447438,NP_000304
5627	131086	Disease	p.Glu249Lys	VAR_046837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046837	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	7	smart00179	192447438,NP_000304
5627	131086	Disease	p.Asn258Ser	VAR_005567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005567	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	29	smart00181	192447438,NP_000304
5627	131086	Disease	p.Asn258Ser	VAR_005567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005567	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	30	cd00053	192447438,NP_000304
5627	131086	Disease	p.Asn258Ser	VAR_005567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005567	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	38	cd00054	192447438,NP_000304
5627	131086	Disease	p.Asn258Ser	VAR_005567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005567	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	36	smart00179	192447438,NP_000304
5627	131086	Disease	p.Cys265Arg	VAR_046838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046838	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	50	smart00181	192447438,NP_000304
5627	131086	Disease	p.Cys265Arg	VAR_046838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046838	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	51	cd00053	192447438,NP_000304
5627	131086	Disease	p.Cys265Arg	VAR_046838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046838	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	53	cd00054	192447438,NP_000304
5627	131086	Disease	p.Cys265Arg	VAR_046838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046838	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	48	smart00179	192447438,NP_000304
5627	131086	Disease	p.Cys265Trp	VAR_046839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046839	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	50	smart00181	192447438,NP_000304
5627	131086	Disease	p.Cys265Trp	VAR_046839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046839	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	51	cd00053	192447438,NP_000304
5627	131086	Disease	p.Cys265Trp	VAR_046839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046839	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	53	cd00054	192447438,NP_000304
5627	131086	Disease	p.Cys265Trp	VAR_046839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046839	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	48	smart00179	192447438,NP_000304
5627	131086	Disease	p.Tyr266Cys	VAR_046840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046840	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	56	smart00181	192447438,NP_000304
5627	131086	Disease	p.Tyr266Cys	VAR_046840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046840	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	52	cd00053	192447438,NP_000304
5627	131086	Disease	p.Tyr266Cys	VAR_046840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046840	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	54	cd00054	192447438,NP_000304
5627	131086	Disease	p.Tyr266Cys	VAR_046840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046840	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	49	smart00179	192447438,NP_000304
5627	131086	Disease	p.Cys267Ser	VAR_046841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046841	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	57	smart00181	192447438,NP_000304
5627	131086	Disease	p.Cys267Ser	VAR_046841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046841	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	58	cd00053	192447438,NP_000304
5627	131086	Disease	p.Cys267Ser	VAR_046841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046841	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	60	cd00054	192447438,NP_000304
5627	131086	Disease	p.Cys267Ser	VAR_046841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046841	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	55	smart00179	192447438,NP_000304
5627	131086	Disease	p.Leu300Pro	VAR_046842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046842	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Ser324Pro	VAR_046843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046843	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	35	cd00110	192447438,NP_000304
5627	131086	Disease	p.Ser324Pro	VAR_046843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046843	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	4	smart00282	192447438,NP_000304
5627	131086	Disease	p.Gly336Asp	VAR_046844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046844	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	11	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Gly336Asp	VAR_046844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046844	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	8	pfam00054	192447438,NP_000304
5627	131086	Disease	p.Gly336Asp	VAR_046844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046844	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	55	cd00110	192447438,NP_000304
5627	131086	Disease	p.Gly336Asp	VAR_046844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046844	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	37	smart00282	192447438,NP_000304
5627	131086	Disease	p.Gly336Ser	VAR_046845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046845	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	11	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Gly336Ser	VAR_046845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046845	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	8	pfam00054	192447438,NP_000304
5627	131086	Disease	p.Gly336Ser	VAR_046845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046845	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	55	cd00110	192447438,NP_000304
5627	131086	Disease	p.Gly336Ser	VAR_046845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046845	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	37	smart00282	192447438,NP_000304
5627	131086	Disease	p.Gly336Val	VAR_046846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046846	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	11	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Gly336Val	VAR_046846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046846	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	8	pfam00054	192447438,NP_000304
5627	131086	Disease	p.Gly336Val	VAR_046846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046846	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	55	cd00110	192447438,NP_000304
5627	131086	Disease	p.Gly336Val	VAR_046846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046846	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	37	smart00282	192447438,NP_000304
5627	131086	Disease	p.Leu339Pro	VAR_046847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046847	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	14	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Leu339Pro	VAR_046847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046847	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	11	pfam00054	192447438,NP_000304
5627	131086	Disease	p.Leu339Pro	VAR_046847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046847	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	58	cd00110	192447438,NP_000304
5627	131086	Disease	p.Leu339Pro	VAR_046847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046847	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	43	smart00282	192447438,NP_000304
5627	131086	Disease	p.Leu351Pro	VAR_046848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046848	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	44	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Leu351Pro	VAR_046848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046848	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	35	pfam00054	192447438,NP_000304
5627	131086	Disease	p.Leu351Pro	VAR_046848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046848	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	82	cd00110	192447438,NP_000304
5627	131086	Disease	p.Leu351Pro	VAR_046848	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046848	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	111	smart00282	192447438,NP_000304
5627	131086	Disease	p.Arg355His	VAR_046849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046849	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	48	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Arg355His	VAR_046849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046849	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	39	pfam00054	192447438,NP_000304
5627	131086	Disease	p.Arg355His	VAR_046849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046849	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	86	cd00110	192447438,NP_000304
5627	131086	Disease	p.Arg355His	VAR_046849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046849	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	118	smart00282	192447438,NP_000304
5627	131086	Disease	p.Gly357Arg	VAR_046850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046850	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	51	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Gly357Arg	VAR_046850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046850	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	41	pfam00054	192447438,NP_000304
5627	131086	Disease	p.Gly357Arg	VAR_046850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046850	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	95	cd00110	192447438,NP_000304
5627	131086	Disease	p.Gly357Arg	VAR_046850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046850	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	131	smart00282	192447438,NP_000304
5627	131086	Disease	p.Lys364Glu	VAR_046851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046851	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	59	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Lys364Glu	VAR_046851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046851	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	48	pfam00054	192447438,NP_000304
5627	131086	Disease	p.Lys364Glu	VAR_046851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046851	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	104	cd00110	192447438,NP_000304
5627	131086	Disease	p.Lys364Glu	VAR_046851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046851	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	143	smart00282	192447438,NP_000304
5627	131086	Disease	p.Asp376Asn	VAR_046852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046852	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	88	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Asp376Asn	VAR_046852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046852	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	64	pfam00054	192447438,NP_000304
5627	131086	Disease	p.Asp376Asn	VAR_046852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046852	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	126	cd00110	192447438,NP_000304
5627	131086	Disease	p.Asp376Asn	VAR_046852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046852	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	184	smart00282	192447438,NP_000304
5627	131086	Disease	p.Gly381Asp	VAR_046853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046853	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	104	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Gly381Asp	VAR_046853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046853	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	70	pfam00054	192447438,NP_000304
5627	131086	Disease	p.Gly381Asp	VAR_046853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046853	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	136	cd00110	192447438,NP_000304
5627	131086	Disease	p.Gly381Asp	VAR_046853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046853	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	203	smart00282	192447438,NP_000304
5627	131086	Disease	p.Gly381Val	VAR_046854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046854	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	104	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Gly381Val	VAR_046854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046854	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	70	pfam00054	192447438,NP_000304
5627	131086	Disease	p.Gly381Val	VAR_046854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046854	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	136	cd00110	192447438,NP_000304
5627	131086	Disease	p.Gly381Val	VAR_046854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046854	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	203	smart00282	192447438,NP_000304
5627	131086	Disease	p.Trp383Arg	VAR_046855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046855	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	107	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Trp383Arg	VAR_046855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046855	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	72	pfam00054	192447438,NP_000304
5627	131086	Disease	p.Trp383Arg	VAR_046855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046855	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	138	cd00110	192447438,NP_000304
5627	131086	Disease	p.Trp383Arg	VAR_046855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046855	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	206	smart00282	192447438,NP_000304
5627	131086	Disease	p.Glu390Lys	VAR_046857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046857	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	116	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Glu390Lys	VAR_046857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046857	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	79	pfam00054	192447438,NP_000304
5627	131086	Disease	p.Glu390Lys	VAR_046857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046857	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	145	cd00110	192447438,NP_000304
5627	131086	Disease	p.Glu390Lys	VAR_046857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046857	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	220	smart00282	192447438,NP_000304
5627	131086	Disease	p.Leu446Pro	VAR_046858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046858	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	234	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Leu446Pro	VAR_046858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046858	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	166	pfam00054	192447438,NP_000304
5627	131086	Disease	p.Leu446Pro	VAR_046858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046858	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	285	cd00110	192447438,NP_000304
5627	131086	Disease	p.Leu446Pro	VAR_046858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046858	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	577	smart00282	192447438,NP_000304
5627	131086	Disease	p.Cys449Ser	VAR_046859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046859	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	237	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Cys449Ser	VAR_046859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046859	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	169	pfam00054	192447438,NP_000304
5627	131086	Disease	p.Cys449Ser	VAR_046859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046859	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	288	cd00110	192447438,NP_000304
5627	131086	Disease	p.Cys449Ser	VAR_046859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046859	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	580	smart00282	192447438,NP_000304
5627	131086	Disease	p.Cys475Arg	VAR_046860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046860	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Gly482Cys	VAR_014116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014116	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Tyr485Cys	VAR_014117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014117	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Ser501Ala	VAR_046862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046862	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Val508Gly	VAR_046863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046863	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Val508Met	VAR_046864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046864	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Arg515Cys	VAR_046865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046865	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	2	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Arg515Pro	VAR_046866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046866	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	2	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Gly521Asp	VAR_046867	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046867	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	11	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Ala525Pro	VAR_046868	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046868	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	15	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Leu526Ser	VAR_046869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046869	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	16	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Thr532Ala	VAR_046870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046870	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	22	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Leu552Ser	VAR_046871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046871	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	56	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Arg561Gly	VAR_014119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014119	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	84	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Ile562Leu	VAR_046872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046872	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	85	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Cys568Tyr	VAR_046873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046873	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	102	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Leu575Arg	VAR_046874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046874	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	112	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Leu584Gln	VAR_046876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046876	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	137	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Met611Lys	VAR_046877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046877	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	197	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Met611Thr	VAR_046878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046878	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	197	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Ala616Pro	VAR_046879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046879	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	202	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Leu622Arg	VAR_046880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046880	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	209	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Thr630Ile	VAR_046881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046881	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	228	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Tyr636Cys	VAR_046882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046882	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	234	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Gly638Asp	VAR_046883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046883	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	236	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Cys639Phe	VAR_046884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046884	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	237	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Cys639Tyr	VAR_046885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046885	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	237	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Met640Thr	VAR_046886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046886	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	238	pfam02210	192447438,NP_000304
5627	131086	Disease	p.Ile644Ser	VAR_046887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046887	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	243	pfam02210	192447438,NP_000304
5627	131086	Disease	p.His664Pro	VAR_046888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046888	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Ser665Leu	VAR_046889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046889	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Cys666Arg	VAR_046890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046890	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
5627	131086	Disease	p.Pro667Leu	VAR_046891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046891	- Protein S deficiency (PROS1D) [MIM:612336]	SWISS	No Domain	N/A	192447438,NP_000304
9129	37082334	Disease	p.Pro493Ser	VAR_046735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046735	- Retinitis pigmentosa type 18 (RP18) [MIM:601414]	SWISS	310	pfam08572	4758556,NP_004689
9129	37082334	Disease	p.Thr494Met	VAR_016877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016877	- Retinitis pigmentosa type 18 (RP18) [MIM:601414]	SWISS	311	pfam08572	4758556,NP_004689
26121	90101442	Disease	p.Ala194Glu	VAR_025630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025630	- Retinitis pigmentosa type 11 (RP11) [MIM:600138]	SWISS	237	COG1498	221136939,NP_056444
26121	90101442	Disease	p.Ala194Glu	VAR_025630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025630	- Retinitis pigmentosa type 11 (RP11) [MIM:600138]	SWISS	9	pfam01798	221136939,NP_056444
26121	90101442	Disease	p.Ala216Pro	VAR_025631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025631	- Retinitis pigmentosa type 11 (RP11) [MIM:600138]	SWISS	259	COG1498	221136939,NP_056444
26121	90101442	Disease	p.Ala216Pro	VAR_025631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025631	- Retinitis pigmentosa type 11 (RP11) [MIM:600138]	SWISS	31	pfam01798	221136939,NP_056444
10594	67460824	Disease	p.Pro2301Thr	VAR_022626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022626	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	413	cd08056	91208426,NP_006436
10594	67460824	Disease	p.Pro2301Thr	VAR_022626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022626	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	2466	COG5178	91208426,NP_006436
10594	67460824	Disease	p.Pro2301Thr	VAR_022626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022626	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	98	pfam08084	91208426,NP_006436
10594	67460824	Disease	p.Phe2304Leu	VAR_022627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022627	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	416	cd08056	91208426,NP_006436
10594	67460824	Disease	p.Phe2304Leu	VAR_022627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022627	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	2469	COG5178	91208426,NP_006436
10594	67460824	Disease	p.Phe2304Leu	VAR_022627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022627	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	101	pfam08084	91208426,NP_006436
10594	67460824	Disease	p.His2309Pro	VAR_022628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022628	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	421	cd08056	91208426,NP_006436
10594	67460824	Disease	p.His2309Pro	VAR_022628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022628	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	2474	COG5178	91208426,NP_006436
10594	67460824	Disease	p.His2309Pro	VAR_022628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022628	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	106	pfam08084	91208426,NP_006436
10594	67460824	Disease	p.His2309Arg	VAR_022629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022629	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	421	cd08056	91208426,NP_006436
10594	67460824	Disease	p.His2309Arg	VAR_022629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022629	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	2474	COG5178	91208426,NP_006436
10594	67460824	Disease	p.His2309Arg	VAR_022629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022629	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	106	pfam08084	91208426,NP_006436
10594	67460824	Disease	p.Arg2310Gly	VAR_022630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022630	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	422	cd08056	91208426,NP_006436
10594	67460824	Disease	p.Arg2310Gly	VAR_022630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022630	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	2475	COG5178	91208426,NP_006436
10594	67460824	Disease	p.Arg2310Gly	VAR_022630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022630	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	107	pfam08084	91208426,NP_006436
10594	67460824	Disease	p.Arg2310Lys	VAR_022631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022631	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	422	cd08056	91208426,NP_006436
10594	67460824	Disease	p.Arg2310Lys	VAR_022631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022631	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	2475	COG5178	91208426,NP_006436
10594	67460824	Disease	p.Arg2310Lys	VAR_022631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022631	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	107	pfam08084	91208426,NP_006436
10594	67460824	Disease	p.Phe2314Leu	VAR_022632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022632	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	426	cd08056	91208426,NP_006436
10594	67460824	Disease	p.Phe2314Leu	VAR_022632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022632	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	2479	COG5178	91208426,NP_006436
10594	67460824	Disease	p.Phe2314Leu	VAR_022632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022632	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	111	pfam08084	91208426,NP_006436
10594	67460824	Disease	p.Tyr2334Asn	VAR_022633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022633	- Retinitis pigmentosa type 13 (RP13) [MIM:600059]	SWISS	2499	COG5178	91208426,NP_006436
5961	132212	Disease	p.Arg13Trp	VAR_006853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006853	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	4	pfam00335	NULL
5961	132212	Disease	p.Leu45Phe	VAR_006855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006855	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	45	pfam00335	NULL
5961	132212	Disease	p.Gly68Arg	VAR_006857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006857	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	128	pfam00335	NULL
5961	132212	Disease	p.Leu126Arg	VAR_006859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006859	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	7	cd03166	NULL
5961	132212	Disease	p.Leu126Arg	VAR_006859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006859	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	7	cd03165	NULL
5961	132212	Disease	p.Leu126Arg	VAR_006859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006859	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	7	cd03155	NULL
5961	132212	Disease	p.Leu126Arg	VAR_006859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006859	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	7	cd03127	NULL
5961	132212	Disease	p.Leu126Arg	VAR_006859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006859	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	7	cd03162	NULL
5961	132212	Disease	p.Leu126Arg	VAR_006859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006859	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	7	cd03158	NULL
5961	132212	Disease	p.Leu126Arg	VAR_006859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006859	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	200	pfam00335	NULL
5961	132212	Disease	p.Lys153Arg	VAR_006861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006861	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	30	cd03166	NULL
5961	132212	Disease	p.Lys153Arg	VAR_006861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006861	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	37	cd03165	NULL
5961	132212	Disease	p.Lys153Arg	VAR_006861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006861	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	39	cd03155	NULL
5961	132212	Disease	p.Lys153Arg	VAR_006861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006861	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	43	cd03127	NULL
5961	132212	Disease	p.Lys153Arg	VAR_006861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006861	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	34	cd03162	NULL
5961	132212	Disease	p.Lys153Arg	VAR_006861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006861	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	35	cd03158	NULL
5961	132212	Disease	p.Lys153Arg	VAR_006861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006861	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	301	pfam00335	NULL
5961	132212	Disease	p.Asp157Asn	VAR_006863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006863	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	34	cd03166	NULL
5961	132212	Disease	p.Asp157Asn	VAR_006863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006863	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	41	cd03165	NULL
5961	132212	Disease	p.Asp157Asn	VAR_006863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006863	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	43	cd03155	NULL
5961	132212	Disease	p.Asp157Asn	VAR_006863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006863	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	47	cd03127	NULL
5961	132212	Disease	p.Asp157Asn	VAR_006863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006863	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	38	cd03162	NULL
5961	132212	Disease	p.Asp157Asn	VAR_006863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006863	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	39	cd03158	NULL
5961	132212	Disease	p.Asp157Asn	VAR_006863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006863	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	305	pfam00335	NULL
5961	132212	Disease	p.Cys165Tyr	VAR_006864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006864	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	42	cd03166	NULL
5961	132212	Disease	p.Cys165Tyr	VAR_006864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006864	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	49	cd03165	NULL
5961	132212	Disease	p.Cys165Tyr	VAR_006864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006864	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	51	cd03155	NULL
5961	132212	Disease	p.Cys165Tyr	VAR_006864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006864	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	55	cd03127	NULL
5961	132212	Disease	p.Cys165Tyr	VAR_006864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006864	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	46	cd03162	NULL
5961	132212	Disease	p.Cys165Tyr	VAR_006864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006864	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	47	cd03158	NULL
5961	132212	Disease	p.Cys165Tyr	VAR_006864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006864	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	317	pfam00335	NULL
5961	132212	Disease	p.Gly167Asp	VAR_006865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006865	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	44	cd03166	NULL
5961	132212	Disease	p.Gly167Asp	VAR_006865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006865	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	51	cd03165	NULL
5961	132212	Disease	p.Gly167Asp	VAR_006865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006865	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	53	cd03155	NULL
5961	132212	Disease	p.Gly167Asp	VAR_006865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006865	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	57	cd03127	NULL
5961	132212	Disease	p.Gly167Asp	VAR_006865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006865	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	48	cd03162	NULL
5961	132212	Disease	p.Gly167Asp	VAR_006865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006865	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	49	cd03158	NULL
5961	132212	Disease	p.Gly167Asp	VAR_006865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006865	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	320	pfam00335	NULL
5961	132212	Disease	p.Gly167Ser	VAR_032052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032052	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	44	cd03166	NULL
5961	132212	Disease	p.Gly167Ser	VAR_032052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032052	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	51	cd03165	NULL
5961	132212	Disease	p.Gly167Ser	VAR_032052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032052	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	53	cd03155	NULL
5961	132212	Disease	p.Gly167Ser	VAR_032052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032052	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	57	cd03127	NULL
5961	132212	Disease	p.Gly167Ser	VAR_032052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032052	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	48	cd03162	NULL
5961	132212	Disease	p.Gly167Ser	VAR_032052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032052	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	49	cd03158	NULL
5961	132212	Disease	p.Gly167Ser	VAR_032052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032052	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	320	pfam00335	NULL
5961	132212	Disease	p.Arg172Gly	VAR_006866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006866	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	49	cd03166	NULL
5961	132212	Disease	p.Arg172Gly	VAR_006866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006866	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	56	cd03165	NULL
5961	132212	Disease	p.Arg172Gly	VAR_006866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006866	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	58	cd03155	NULL
5961	132212	Disease	p.Arg172Gly	VAR_006866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006866	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	62	cd03127	NULL
5961	132212	Disease	p.Arg172Gly	VAR_006866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006866	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	53	cd03162	NULL
5961	132212	Disease	p.Arg172Gly	VAR_006866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006866	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	54	cd03158	NULL
5961	132212	Disease	p.Arg172Gly	VAR_006866	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006866	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	327	pfam00335	NULL
5961	132212	Disease	p.Asp173Val	VAR_006869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006869	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	50	cd03166	NULL
5961	132212	Disease	p.Asp173Val	VAR_006869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006869	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	57	cd03165	NULL
5961	132212	Disease	p.Asp173Val	VAR_006869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006869	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	59	cd03155	NULL
5961	132212	Disease	p.Asp173Val	VAR_006869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006869	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	63	cd03127	NULL
5961	132212	Disease	p.Asp173Val	VAR_006869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006869	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	54	cd03162	NULL
5961	132212	Disease	p.Asp173Val	VAR_006869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006869	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	55	cd03158	NULL
5961	132212	Disease	p.Asp173Val	VAR_006869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006869	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	328	pfam00335	NULL
5961	132212	Disease	p.Leu185Pro	VAR_006871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006871	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	77	cd03166	NULL
5961	132212	Disease	p.Leu185Pro	VAR_006871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006871	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	80	cd03165	NULL
5961	132212	Disease	p.Leu185Pro	VAR_006871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006871	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	69_G	cd03155	NULL
5961	132212	Disease	p.Leu185Pro	VAR_006871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006871	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	75	cd03127	NULL
5961	132212	Disease	p.Leu185Pro	VAR_006871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006871	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	66	cd03162	NULL
5961	132212	Disease	p.Leu185Pro	VAR_006871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006871	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	64	cd03158	NULL
5961	132212	Disease	p.Leu185Pro	VAR_006871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006871	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	343	pfam00335	NULL
5961	132212	Disease	p.Gly208Asp	VAR_006873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006873	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	87_G	cd03155	NULL
5961	132212	Disease	p.Gly208Asp	VAR_006873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006873	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	104	cd03127	NULL
5961	132212	Disease	p.Gly208Asp	VAR_006873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006873	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	132	cd03162	NULL
5961	132212	Disease	p.Gly208Asp	VAR_006873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006873	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	77	cd03158	NULL
5961	132212	Disease	p.Gly208Asp	VAR_006873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006873	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	409	pfam00335	NULL
5961	132212	Disease	p.Pro210Arg	VAR_006874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006874	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	89	cd03155	NULL
5961	132212	Disease	p.Pro210Arg	VAR_006874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006874	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	106	cd03127	NULL
5961	132212	Disease	p.Pro210Arg	VAR_006874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006874	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	134	cd03162	NULL
5961	132212	Disease	p.Pro210Arg	VAR_006874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006874	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	79	cd03158	NULL
5961	132212	Disease	p.Pro210Arg	VAR_006874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006874	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	411	pfam00335	NULL
5961	132212	Disease	p.Pro210Arg	VAR_006874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006874	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	89	cd03155	NULL
5961	132212	Disease	p.Pro210Arg	VAR_006874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006874	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	106	cd03127	NULL
5961	132212	Disease	p.Pro210Arg	VAR_006874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006874	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	134	cd03162	NULL
5961	132212	Disease	p.Pro210Arg	VAR_006874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006874	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	79	cd03158	NULL
5961	132212	Disease	p.Pro210Arg	VAR_006874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006874	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	411	pfam00335	NULL
5961	132212	Disease	p.Pro210Ser	VAR_006875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006875	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	89	cd03155	NULL
5961	132212	Disease	p.Pro210Ser	VAR_006875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006875	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	106	cd03127	NULL
5961	132212	Disease	p.Pro210Ser	VAR_006875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006875	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	134	cd03162	NULL
5961	132212	Disease	p.Pro210Ser	VAR_006875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006875	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	79	cd03158	NULL
5961	132212	Disease	p.Pro210Ser	VAR_006875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006875	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	411	pfam00335	NULL
5961	132212	Disease	p.Phe211Leu	VAR_006876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006876	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	90	cd03155	NULL
5961	132212	Disease	p.Phe211Leu	VAR_006876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006876	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	107	cd03127	NULL
5961	132212	Disease	p.Phe211Leu	VAR_006876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006876	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	135	cd03162	NULL
5961	132212	Disease	p.Phe211Leu	VAR_006876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006876	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	80	cd03158	NULL
5961	132212	Disease	p.Phe211Leu	VAR_006876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006876	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	412	pfam00335	NULL
5961	132212	Disease	p.Ser212Gly	VAR_006877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006877	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	91	cd03155	NULL
5961	132212	Disease	p.Ser212Gly	VAR_006877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006877	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	108	cd03127	NULL
5961	132212	Disease	p.Ser212Gly	VAR_006877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006877	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	136	cd03162	NULL
5961	132212	Disease	p.Ser212Gly	VAR_006877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006877	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	81	cd03158	NULL
5961	132212	Disease	p.Ser212Gly	VAR_006877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006877	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	413	pfam00335	NULL
5961	132212	Disease	p.Ser212Thr	VAR_006878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006878	- Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]	SWISS	91	cd03155	NULL
5961	132212	Disease	p.Ser212Thr	VAR_006878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006878	- Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]	SWISS	108	cd03127	NULL
5961	132212	Disease	p.Ser212Thr	VAR_006878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006878	- Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]	SWISS	136	cd03162	NULL
5961	132212	Disease	p.Ser212Thr	VAR_006878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006878	- Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]	SWISS	81	cd03158	NULL
5961	132212	Disease	p.Ser212Thr	VAR_006878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006878	- Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]	SWISS	413	pfam00335	NULL
5961	132212	Disease	p.Cys213Arg	VAR_006879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006879	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	92	cd03155	NULL
5961	132212	Disease	p.Cys213Arg	VAR_006879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006879	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	109	cd03127	NULL
5961	132212	Disease	p.Cys213Arg	VAR_006879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006879	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	137	cd03162	NULL
5961	132212	Disease	p.Cys213Arg	VAR_006879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006879	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	82	cd03158	NULL
5961	132212	Disease	p.Cys213Arg	VAR_006879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006879	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	414	pfam00335	NULL
5961	132212	Disease	p.Cys214Ser	VAR_006880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006880	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	93	cd03155	NULL
5961	132212	Disease	p.Cys214Ser	VAR_006880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006880	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	110	cd03127	NULL
5961	132212	Disease	p.Cys214Ser	VAR_006880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006880	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	138	cd03162	NULL
5961	132212	Disease	p.Cys214Ser	VAR_006880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006880	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	83	cd03158	NULL
5961	132212	Disease	p.Cys214Ser	VAR_006880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006880	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	415	pfam00335	NULL
5961	132212	Disease	p.Pro216Leu	VAR_006881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006881	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	95	cd03155	NULL
5961	132212	Disease	p.Pro216Leu	VAR_006881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006881	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	112	cd03127	NULL
5961	132212	Disease	p.Pro216Leu	VAR_006881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006881	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	140	cd03162	NULL
5961	132212	Disease	p.Pro216Leu	VAR_006881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006881	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	85	cd03158	NULL
5961	132212	Disease	p.Pro216Leu	VAR_006881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006881	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	417	pfam00335	NULL
5961	132212	Disease	p.Pro216Ser	VAR_006882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006882	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	95	cd03155	NULL
5961	132212	Disease	p.Pro216Ser	VAR_006882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006882	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	112	cd03127	NULL
5961	132212	Disease	p.Pro216Ser	VAR_006882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006882	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	140	cd03162	NULL
5961	132212	Disease	p.Pro216Ser	VAR_006882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006882	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	85	cd03158	NULL
5961	132212	Disease	p.Pro216Ser	VAR_006882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006882	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	417	pfam00335	NULL
5961	132212	Disease	p.Arg220Gln	VAR_006885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006885	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	99	cd03155	NULL
5961	132212	Disease	p.Arg220Gln	VAR_006885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006885	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	116	cd03127	NULL
5961	132212	Disease	p.Arg220Gln	VAR_006885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006885	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	145	cd03162	NULL
5961	132212	Disease	p.Arg220Gln	VAR_006885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006885	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	93	cd03158	NULL
5961	132212	Disease	p.Arg220Gln	VAR_006885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006885	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	421	pfam00335	NULL
5961	132212	Disease	p.Arg220Trp	VAR_006886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006886	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	99	cd03155	NULL
5961	132212	Disease	p.Arg220Trp	VAR_006886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006886	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	116	cd03127	NULL
5961	132212	Disease	p.Arg220Trp	VAR_006886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006886	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	145	cd03162	NULL
5961	132212	Disease	p.Arg220Trp	VAR_006886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006886	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	93	cd03158	NULL
5961	132212	Disease	p.Arg220Trp	VAR_006886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006886	- Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]	SWISS	421	pfam00335	NULL
5961	132212	Disease	p.Asn244Lys	VAR_006887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006887	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	132	cd03155	NULL
5961	132212	Disease	p.Asn244Lys	VAR_006887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006887	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	150	cd03127	NULL
5961	132212	Disease	p.Asn244Lys	VAR_006887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006887	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	169	cd03162	NULL
5961	132212	Disease	p.Asn244Lys	VAR_006887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006887	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	121	cd03158	NULL
5961	132212	Disease	p.Asn244Lys	VAR_006887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006887	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	462	pfam00335	NULL
5961	132212	Disease	p.Gly266Asp	VAR_006889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006889	- Retinitis pigmentosa type 7 (RP7) [MIM:608133]	SWISS	493	pfam00335	NULL
5961	132212	Disease	p.Val268Ile	VAR_006890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006890	- Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]	SWISS	495	pfam00335	NULL
5961	132212	Disease	p.Gly305Asp	VAR_006892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006892	- Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]	SWISS	No Domain	N/A	NULL
5631	46397477	Disease	p.Glu43Asp	VAR_036941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036941	- Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5) [MIM:311070]	SWISS	52	COG0462	4506127,NP_002755
5631	46397477	Disease	p.Asp52His	VAR_016044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016044	- Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]	SWISS	61	COG0462	4506127,NP_002755
5631	46397477	Disease	p.Asp65Asn	VAR_063522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063522	- Deafness X-linked type 1 (DFNX1) [MIM:304500]	SWISS	90	COG0462	4506127,NP_002755
5631	46397477	Disease	p.Ala87Thr	VAR_063523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063523	- Deafness X-linked type 1 (DFNX1) [MIM:304500]	SWISS	112	COG0462	4506127,NP_002755
5631	46397477	Disease	p.Asn114Ser	VAR_004163	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004163	- Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]	SWISS	251	COG0462	4506127,NP_002755
5631	46397477	Disease	p.Met115Thr	VAR_036942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036942	- Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5) [MIM:311070]	SWISS	252	COG0462	4506127,NP_002755
5631	46397477	Disease	p.Leu129Ile	VAR_016045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016045	- Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]	SWISS	266	COG0462	4506127,NP_002755
5631	46397477	Disease	p.Gln133Pro	VAR_036943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036943	- ARTS syndrome (ARTS) [MIM:301835]	SWISS	270	COG0462	4506127,NP_002755
5631	46397477	Disease	p.Leu152Pro	VAR_036944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036944	- ARTS syndrome (ARTS) [MIM:301835]	SWISS	292	COG0462	4506127,NP_002755
5631	46397477	Disease	p.Leu152Pro	VAR_036944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036944	- ARTS syndrome (ARTS) [MIM:301835]	SWISS	17	pfam00156	4506127,NP_002755
5631	46397477	Disease	p.Asp183His	VAR_004164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004164	- Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]	SWISS	325	COG0462	4506127,NP_002755
5631	46397477	Disease	p.Asp183His	VAR_004164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004164	- Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]	SWISS	74	pfam00156	4506127,NP_002755
5631	46397477	Disease	p.Ala190Val	VAR_016046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016046	- Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]	SWISS	334	COG0462	4506127,NP_002755
5631	46397477	Disease	p.Ala190Val	VAR_016046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016046	- Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]	SWISS	89	pfam00156	4506127,NP_002755
5631	46397477	Disease	p.His193Gln	VAR_016047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016047	- Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]	SWISS	337	COG0462	4506127,NP_002755
5631	46397477	Disease	p.His193Gln	VAR_016047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016047	- Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]	SWISS	168	pfam00156	4506127,NP_002755
5631	46397477	Disease	p.Ile290Thr	VAR_063524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063524	- Deafness X-linked type 1 (DFNX1) [MIM:304500]	SWISS	547	COG0462	4506127,NP_002755
5631	46397477	Disease	p.Gly306Arg	VAR_063525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063525	- Deafness X-linked type 1 (DFNX1) [MIM:304500]	SWISS	563	COG0462	4506127,NP_002755
5644	136408	Disease	p.Ala16Val	VAR_011693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011693	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	No Domain	N/A	4506145,NP_002760
5644	136408	Disease	p.Asp22Gly	VAR_011652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011652	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	No Domain	N/A	4506145,NP_002760
5644	136408	Disease	p.Lys23Arg	VAR_011653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011653	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	No Domain	N/A	4506145,NP_002760
5644	136408	Disease	p.Asn29Ile	VAR_006720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006720	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	6	pfam00089	4506145,NP_002760
5644	136408	Disease	p.Asn29Ile	VAR_006720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006720	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	6	cd00190	4506145,NP_002760
5644	136408	Disease	p.Asn29Ile	VAR_006720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006720	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	13	smart00020	4506145,NP_002760
5644	136408	Disease	p.Asn29Thr	VAR_012712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012712	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	6	pfam00089	4506145,NP_002760
5644	136408	Disease	p.Asn29Thr	VAR_012712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012712	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	6	cd00190	4506145,NP_002760
5644	136408	Disease	p.Asn29Thr	VAR_012712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012712	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	13	smart00020	4506145,NP_002760
5644	136408	Disease	p.Asn54Ser	VAR_037908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037908	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	45	pfam00089	4506145,NP_002760
5644	136408	Disease	p.Asn54Ser	VAR_037908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037908	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	50	cd00190	4506145,NP_002760
5644	136408	Disease	p.Asn54Ser	VAR_037908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037908	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	56	smart00020	4506145,NP_002760
5644	136408	Disease	p.Glu79Lys	VAR_037909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037909	rs28934902 Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	97	pfam00089	4506145,NP_002760
5644	136408	Disease	p.Glu79Lys	VAR_037909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037909	rs28934902 Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	96	cd00190	4506145,NP_002760
5644	136408	Disease	p.Glu79Lys	VAR_037909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037909	rs28934902 Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	109	smart00020	4506145,NP_002760
5644	136408	Disease	p.Leu104Pro	VAR_011654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011654	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	129	pfam00089	4506145,NP_002760
5644	136408	Disease	p.Leu104Pro	VAR_011654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011654	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	147	cd00190	4506145,NP_002760
5644	136408	Disease	p.Leu104Pro	VAR_011654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011654	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	233	smart00020	4506145,NP_002760
5644	136408	Disease	p.Arg116Cys	VAR_011655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011655	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	152	pfam00089	4506145,NP_002760
5644	136408	Disease	p.Arg116Cys	VAR_011655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011655	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	163	cd00190	4506145,NP_002760
5644	136408	Disease	p.Arg116Cys	VAR_011655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011655	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	273	smart00020	4506145,NP_002760
5644	136408	Disease	p.Arg122Cys	VAR_012713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012713	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	166	pfam00089	4506145,NP_002760
5644	136408	Disease	p.Arg122Cys	VAR_012713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012713	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	177	cd00190	4506145,NP_002760
5644	136408	Disease	p.Arg122Cys	VAR_012713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012713	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	290	smart00020	4506145,NP_002760
5644	136408	Disease	p.Arg122His	VAR_006721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006721	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	166	pfam00089	4506145,NP_002760
5644	136408	Disease	p.Arg122His	VAR_006721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006721	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	177	cd00190	4506145,NP_002760
5644	136408	Disease	p.Arg122His	VAR_006721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006721	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	290	smart00020	4506145,NP_002760
5644	136408	Disease	p.Cys139Phe	VAR_011656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011656	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	190	pfam00089	4506145,NP_002760
5644	136408	Disease	p.Cys139Phe	VAR_011656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011656	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	222	cd00190	4506145,NP_002760
5644	136408	Disease	p.Cys139Phe	VAR_011656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011656	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	349	smart00020	4506145,NP_002760
5660	134218	Disease	p.Asn215His	VAR_031823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031823	- Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900]	SWISS	21	smart00741	11386147,NP_002769
5660	134218	Disease	p.Asn215His	VAR_031823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031823	- Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900]	SWISS	22	pfam05184	11386147,NP_002769
5660	134218	Disease	p.Asn215Lys	VAR_031899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031899	- Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900]	SWISS	21	smart00741	11386147,NP_002769
5660	134218	Disease	p.Asn215Lys	VAR_031899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031899	- Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900]	SWISS	22	pfam05184	11386147,NP_002769
5660	134218	Disease	p.Thr217Ile	VAR_006943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006943	- Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900]	SWISS	23	smart00741	11386147,NP_002769
5660	134218	Disease	p.Thr217Ile	VAR_006943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006943	- Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900]	SWISS	24	pfam05184	11386147,NP_002769
5660	134218	Disease	p.Cys241Ser	VAR_006944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006944	rs1130793 Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900]	SWISS	4	pfam03489	11386147,NP_002769
5660	134218	Disease	p.Cys241Ser	VAR_006944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006944	rs1130793 Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900]	SWISS	61	smart00741	11386147,NP_002769
5660	134218	Disease	p.Leu349Pro	VAR_042441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042441	- Atypical Gaucher disease (AGD) [MIM:610539]	SWISS	47	smart00741	11386147,NP_002769
5660	134218	Disease	p.Leu349Pro	VAR_042441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042441	- Atypical Gaucher disease (AGD) [MIM:610539]	SWISS	42	pfam05184	11386147,NP_002769
5660	134218	Disease	p.Cys388Phe	VAR_006945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006945	- Atypical Gaucher disease (AGD) [MIM:610539]	SWISS	No Domain	N/A	11386147,NP_002769
29968	20141815	Disease	p.Asp100Ala	VAR_037252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037252	- Phosphoserine aminotransferase deficiency (PSATD) [MIM:610992]	SWISS	83	cd01494	17402893,NP_478059
29968	20141815	Disease	p.Asp100Ala	VAR_037252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037252	- Phosphoserine aminotransferase deficiency (PSATD) [MIM:610992]	SWISS	100	cd00611	17402893,NP_478059
29968	20141815	Disease	p.Asp100Ala	VAR_037252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037252	- Phosphoserine aminotransferase deficiency (PSATD) [MIM:610992]	SWISS	104_G	COG0075	17402893,NP_478059
29968	20141815	Disease	p.Asp100Ala	VAR_037252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037252	- Phosphoserine aminotransferase deficiency (PSATD) [MIM:610992]	SWISS	100	pfam00266	17402893,NP_478059
29968	20141815	Disease	p.Asp100Ala	VAR_037252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037252	- Phosphoserine aminotransferase deficiency (PSATD) [MIM:610992]	SWISS	84	cd06451	17402893,NP_478059
29968	20141815	Disease	p.Asp100Ala	VAR_037252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037252	- Phosphoserine aminotransferase deficiency (PSATD) [MIM:610992]	SWISS	106	COG1932	17402893,NP_478059
5663	1709856	Disease	p.Ala79Val	VAR_006413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006413	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	10	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Val82Leu	VAR_006414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006414	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	13	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Cys92Ser	VAR_016214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016214	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	23	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Val96Phe	VAR_006415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006415	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	27	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Phe105Leu	VAR_009208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009208	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	36	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Leu113Pro	VAR_016215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016215	- Frontotemporal dementia [MIM:600274]	SWISS	45	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Tyr115Cys	VAR_006416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006416	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	47	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Tyr115His	VAR_006417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006417	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	47	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Thr116Asn	VAR_010120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010120	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	48	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Pro117Leu	VAR_009209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009209	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	49	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Glu120Asp	VAR_006418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006418	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	52	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Glu120Lys	VAR_006419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006419	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	52	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Asn135Asp	VAR_010121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010121	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	6	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Asn135Asp	VAR_010121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010121	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	67	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Met139Ile	VAR_006420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006420	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	10	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Met139Ile	VAR_006420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006420	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	71	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Met139Lys	VAR_010122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010122	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	10	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Met139Lys	VAR_010122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010122	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	71	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Met139Thr	VAR_006421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006421	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	10	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Met139Thr	VAR_006421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006421	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	71	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Met139Val	VAR_006422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006422	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	10	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Met139Val	VAR_006422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006422	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	71	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Ile143Phe	VAR_006423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006423	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	14	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Ile143Phe	VAR_006423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006423	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	75	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Ile143Thr	VAR_006424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006424	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	14	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Ile143Thr	VAR_006424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006424	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	75	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Met146Ile	VAR_006425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006425	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	17	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Met146Ile	VAR_006425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006425	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	78	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Met146Leu	VAR_006426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006426	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	17	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Met146Leu	VAR_006426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006426	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	78	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Met146Val	VAR_006427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006427	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	17	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Met146Val	VAR_006427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006427	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	78	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Thr147Ile	VAR_010123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010123	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	18	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Thr147Ile	VAR_010123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010123	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	79	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.His163Arg	VAR_006428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006428	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	115	smart00730	4506163,NP_000012
5663	1709856	Disease	p.His163Arg	VAR_006428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006428	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	95	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.His163Tyr	VAR_006429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006429	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	115	smart00730	4506163,NP_000012
5663	1709856	Disease	p.His163Tyr	VAR_006429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006429	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	95	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Trp165Cys	VAR_010124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010124	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	117	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Trp165Cys	VAR_010124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010124	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	97	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Leu166Pro	VAR_016216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016216	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	118	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Leu166Pro	VAR_016216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016216	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	98	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Ser169Leu	VAR_006430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006430	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	121	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Ser169Leu	VAR_006430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006430	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	101	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Ser169Pro	VAR_006431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006431	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	121	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Ser169Pro	VAR_006431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006431	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	101	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Leu171Pro	VAR_006432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006432	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	123	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Leu171Pro	VAR_006432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006432	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	103	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Leu173Trp	VAR_010125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010125	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	125	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Leu173Trp	VAR_010125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010125	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	105	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Leu174Met	VAR_016217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016217	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	126	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Leu174Met	VAR_016217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016217	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	106	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Gly206Ala	VAR_016218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016218	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	210	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Gly206Ala	VAR_016218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016218	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	145	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Gly209Arg	VAR_009210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009210	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	213	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Gly209Arg	VAR_009210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009210	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	148	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Gly209Val	VAR_006433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006433	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	213	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Gly209Val	VAR_006433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006433	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	148	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Ile213Thr	VAR_006434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006434	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	217	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Ile213Thr	VAR_006434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006434	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	152	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Leu219Pro	VAR_010126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010126	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	224	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Leu219Pro	VAR_010126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010126	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	158	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Ala231Thr	VAR_006435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006435	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	236	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Ala231Thr	VAR_006435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006435	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	170	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Ala231Val	VAR_006436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006436	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	236	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Ala231Val	VAR_006436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006436	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	170	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Met233Leu	VAR_009211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009211	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	238	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Met233Leu	VAR_009211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009211	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	172	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Met233Thr	VAR_006437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006437	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	238	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Met233Thr	VAR_006437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006437	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	172	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Ala246Glu	VAR_006439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006439	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	254	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Ala246Glu	VAR_006439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006439	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	185	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Leu250Ser	VAR_006440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006440	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	258	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Leu250Ser	VAR_006440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006440	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	189	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Ala260Val	VAR_006441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006441	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	268	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Ala260Val	VAR_006441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006441	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	199	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Leu262Phe	VAR_006442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006442	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	270	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Leu262Phe	VAR_006442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006442	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	201	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Cys263Arg	VAR_006443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006443	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	271	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Cys263Arg	VAR_006443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006443	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	202	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Pro264Leu	VAR_006444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006444	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	272	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Pro264Leu	VAR_006444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006444	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	203	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Gly266Ser	VAR_016219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016219	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	274	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Gly266Ser	VAR_016219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016219	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	205	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Pro267Ser	VAR_006445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006445	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	279	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Pro267Ser	VAR_006445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006445	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	206	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Pro267Thr	VAR_006446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006446	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	279	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Pro267Thr	VAR_006446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006446	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	206	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Arg269Gly	VAR_006447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006447	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	281	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Arg269Gly	VAR_006447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006447	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	208	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Arg269His	VAR_006448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006448	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	281	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Arg269His	VAR_006448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006448	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	208	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Leu271Val	VAR_016220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016220	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	283	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Leu271Val	VAR_016220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016220	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	210	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Arg278Thr	VAR_006449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006449	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	290	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Arg278Thr	VAR_006449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006449	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	217	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Glu280Ala	VAR_006450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006450	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	292	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Glu280Ala	VAR_006450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006450	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	219	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Glu280Gly	VAR_006451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006451	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	292	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Glu280Gly	VAR_006451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006451	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	219	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Leu282Arg	VAR_009212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009212	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	318	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Leu282Arg	VAR_009212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009212	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	221	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Ala285Val	VAR_006452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006452	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	321	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Ala285Val	VAR_006452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006452	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	224	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Leu286Val	VAR_006453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006453	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	322	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Leu286Val	VAR_006453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006453	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	225	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Ser289Cys	VAR_010127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010127	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	333	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Ser289Cys	VAR_010127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010127	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	228	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Gly378Glu	VAR_006455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006455	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	601	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Gly378Glu	VAR_006455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006455	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	400	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Gly384Ala	VAR_006456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006456	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	607	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Gly384Ala	VAR_006456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006456	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	406	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Ser390Ile	VAR_010128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010128	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	613	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Ser390Ile	VAR_010128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010128	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	412	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Leu392Val	VAR_006457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006457	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	615	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Leu392Val	VAR_006457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006457	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	414	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Asn405Ser	VAR_010129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010129	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	648	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Asn405Ser	VAR_010129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010129	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	427	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Ala409Thr	VAR_009213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009213	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	671	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Ala409Thr	VAR_009213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009213	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	431	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Cys410Tyr	VAR_006458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006458	rs661 Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	672	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Cys410Tyr	VAR_006458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006458	rs661 Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	432	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Ala426Pro	VAR_006459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006459	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	688	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Ala426Pro	VAR_006459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006459	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	448	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Ala431Glu	VAR_025605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025605	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	697	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Ala431Glu	VAR_025605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025605	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	453	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Pro436Gln	VAR_006460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006460	rs28930977 Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	702	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Pro436Gln	VAR_006460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006460	rs28930977 Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	458	pfam01080	4506163,NP_000012
5663	1709856	Disease	p.Pro436Ser	VAR_008141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008141	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	702	smart00730	4506163,NP_000012
5663	1709856	Disease	p.Pro436Ser	VAR_008141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008141	- Alzheimer disease type 3 (AD3) [MIM:607822]	SWISS	458	pfam01080	4506163,NP_000012
5664	1709858	Disease	p.Arg62His	VAR_006461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006461	rs58973334 Alzheimer disease type 4 (AD4) [MIM:606889]	SWISS	No Domain	N/A	156105679,NP_000438
5664	1709858	Disease	p.Thr122Pro	VAR_009214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009214	- Alzheimer disease type 4 (AD4) [MIM:606889]	SWISS	48	pfam01080	156105679,NP_000438
5664	1709858	Disease	p.Asn141Ile	VAR_006462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006462	- Alzheimer disease type 4 (AD4) [MIM:606889]	SWISS	6	smart00730	156105679,NP_000438
5664	1709858	Disease	p.Asn141Ile	VAR_006462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006462	- Alzheimer disease type 4 (AD4) [MIM:606889]	SWISS	67	pfam01080	156105679,NP_000438
5664	1709858	Disease	p.Val148Ile	VAR_007958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007958	- Alzheimer disease type 4 (AD4) [MIM:606889]	SWISS	13	smart00730	156105679,NP_000438
5664	1709858	Disease	p.Val148Ile	VAR_007958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007958	- Alzheimer disease type 4 (AD4) [MIM:606889]	SWISS	74	pfam01080	156105679,NP_000438
5664	1709858	Disease	p.Met239Ile	VAR_009215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009215	- Alzheimer disease type 4 (AD4) [MIM:606889]	SWISS	238	smart00730	156105679,NP_000438
5664	1709858	Disease	p.Met239Ile	VAR_009215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009215	- Alzheimer disease type 4 (AD4) [MIM:606889]	SWISS	172	pfam01080	156105679,NP_000438
5664	1709858	Disease	p.Met239Val	VAR_006463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006463	rs28936379 Alzheimer disease type 4 (AD4) [MIM:606889]	SWISS	238	smart00730	156105679,NP_000438
5664	1709858	Disease	p.Met239Val	VAR_006463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006463	rs28936379 Alzheimer disease type 4 (AD4) [MIM:606889]	SWISS	172	pfam01080	156105679,NP_000438
5723	62906870	Disease	p.Asp32Asn	VAR_022378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022378	rs28933976 3-phosphoserine phosphatase deficiency (PSPHD) [MIM:172480]	SWISS	21	COG4359	46249388,NP_004568
5723	62906870	Disease	p.Asp32Asn	VAR_022378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022378	rs28933976 3-phosphoserine phosphatase deficiency (PSPHD) [MIM:172480]	SWISS	17	cd01427	46249388,NP_004568
5723	62906870	Disease	p.Asp32Asn	VAR_022378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022378	rs28933976 3-phosphoserine phosphatase deficiency (PSPHD) [MIM:172480]	SWISS	31	COG0560	46249388,NP_004568
5723	62906870	Disease	p.Asp32Asn	VAR_022378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022378	rs28933976 3-phosphoserine phosphatase deficiency (PSPHD) [MIM:172480]	SWISS	59	pfam00702	46249388,NP_004568
5723	62906870	Disease	p.Met52Thr	VAR_022379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022379	- 3-phosphoserine phosphatase deficiency (PSPHD) [MIM:172480]	SWISS	42	COG4359	46249388,NP_004568
5723	62906870	Disease	p.Met52Thr	VAR_022379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022379	- 3-phosphoserine phosphatase deficiency (PSPHD) [MIM:172480]	SWISS	37	cd01427	46249388,NP_004568
5723	62906870	Disease	p.Met52Thr	VAR_022379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022379	- 3-phosphoserine phosphatase deficiency (PSPHD) [MIM:172480]	SWISS	51	COG0560	46249388,NP_004568
5723	62906870	Disease	p.Met52Thr	VAR_022379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022379	- 3-phosphoserine phosphatase deficiency (PSPHD) [MIM:172480]	SWISS	114	pfam00702	46249388,NP_004568
9051	74739557	Disease	p.Ala230Thr	VAR_023522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023522	rs28939381 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	235	cd07655	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	VAR_023522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023522	rs28939381 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	212	cd07673	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	VAR_023522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023522	rs28939381 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	240	cd07651	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	VAR_023522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023522	rs28939381 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	260	cd07610	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	VAR_023522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023522	rs28939381 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	205	cd07674	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	VAR_023522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023522	rs28939381 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	210	cd07649	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	VAR_023522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023522	rs28939381 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	216	cd07672	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	VAR_023522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023522	rs28939381 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	230	cd07647	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	VAR_023522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023522	rs28939381 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	244	cd07658	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	VAR_023522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023522	rs28939381 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	230	cd07681	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	VAR_023522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023522	rs28939381 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	230	cd07679	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	VAR_023522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023522	rs28939381 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	217	cd07671	20149528,NP_003969
9051	74739557	Disease	p.Ala230Thr	VAR_023522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023522	rs28939381 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	209	cd07648	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	VAR_023523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023523	rs28939089 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	256	cd07655	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	VAR_023523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023523	rs28939089 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	232	cd07673	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	VAR_023523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023523	rs28939089 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	260	cd07651	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	VAR_023523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023523	rs28939089 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	280	cd07610	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	VAR_023523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023523	rs28939089 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	225	cd07674	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	VAR_023523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023523	rs28939089 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	233	cd07649	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	VAR_023523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023523	rs28939089 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	236	cd07672	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	VAR_023523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023523	rs28939089 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	250	cd07647	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	VAR_023523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023523	rs28939089 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	251	cd07681	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	VAR_023523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023523	rs28939089 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	251	cd07679	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	VAR_023523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023523	rs28939089 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	237	cd07671	20149528,NP_003969
9051	74739557	Disease	p.Glu250Gln	VAR_023523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023523	rs28939089 PAPA syndrome (PAPAS) [MIM:604416]	SWISS	229	cd07648	20149528,NP_003969
5727	160415977	Disease	p.Leu175Pro	VAR_007843	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007843	- Basal cell nevus syndrome (BCNS) [MIM:109400]	SWISS	No Domain	N/A	134254446,NP_000255
5727	160415977	Disease	p.Thr230Pro	VAR_020845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020845	- Basal cell nevus syndrome (BCNS) [MIM:109400]	SWISS	No Domain	N/A	134254446,NP_000255
5727	160415977	Disease	p.Phe376Ser	VAR_007844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007844	- Basal cell nevus syndrome (BCNS) [MIM:109400]	SWISS	236	pfam02460	134254446,NP_000255
5727	160415977	Disease	p.Ala393Thr	VAR_032952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032952	- Holoprosencephaly type 7 (HPE7) [MIM:610828]	SWISS	256	pfam02460	134254446,NP_000255
5727	160415977	Disease	p.Ala443Gly	VAR_032953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032953	- Holoprosencephaly type 7 (HPE7) [MIM:610828]	SWISS	307	pfam02460	134254446,NP_000255
5727	160415977	Disease	p.Gly509Arg	VAR_010974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010974	- Basal cell nevus syndrome (BCNS) [MIM:109400]	SWISS	50	pfam12349	134254446,NP_000255
5727	160415977	Disease	p.Gly509Arg	VAR_010974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010974	- Basal cell nevus syndrome (BCNS) [MIM:109400]	SWISS	384	pfam02460	134254446,NP_000255
5727	160415977	Disease	p.Gly509Val	VAR_010975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010975	- Basal cell nevus syndrome (BCNS) [MIM:109400]	SWISS	50	pfam12349	134254446,NP_000255
5727	160415977	Disease	p.Gly509Val	VAR_010975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010975	- Basal cell nevus syndrome (BCNS) [MIM:109400]	SWISS	384	pfam02460	134254446,NP_000255
5727	160415977	Disease	p.Asp513Tyr	VAR_010976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010976	- Basal cell nevus syndrome (BCNS) [MIM:109400]	SWISS	54	pfam12349	134254446,NP_000255
5727	160415977	Disease	p.Asp513Tyr	VAR_010976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010976	- Basal cell nevus syndrome (BCNS) [MIM:109400]	SWISS	388	pfam02460	134254446,NP_000255
5727	160415977	Disease	p.Thr728Met	VAR_032954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032954	rs28936404 Holoprosencephaly type 7 (HPE7) [MIM:610828]	SWISS	596	pfam02460	134254446,NP_000255
5727	160415977	Disease	p.Val751Gly	VAR_032955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032955	- Holoprosencephaly type 7 (HPE7) [MIM:610828]	SWISS	620	pfam02460	134254446,NP_000255
5727	160415977	Disease	p.Ser827Gly	VAR_032956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032956	- Holoprosencephaly type 7 (HPE7) [MIM:610828]	SWISS	702	pfam02460	134254446,NP_000255
5727	160415977	Disease	p.Val908Gly	VAR_032957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032957	- Holoprosencephaly type 7 (HPE7) [MIM:610828]	SWISS	775_G	pfam02460	134254446,NP_000255
5727	160415977	Disease	p.Thr1052Met	VAR_032958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032958	rs28936405 Holoprosencephaly type 7 (HPE7) [MIM:610828]	SWISS	888	pfam02460	134254446,NP_000255
5727	160415977	Disease	p.Gly1069Arg	VAR_010979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010979	- Basal cell nevus syndrome (BCNS) [MIM:109400]	SWISS	905	pfam02460	134254446,NP_000255
5727	160415977	Disease	p.Arg1114Trp	VAR_007847	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007847	- Basal cell nevus syndrome (BCNS) [MIM:109400]	SWISS	956	pfam02460	134254446,NP_000255
5727	160415977	Disease	p.Ser1132Pro	VAR_010980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010980	- Basal cell nevus syndrome (BCNS) [MIM:109400]	SWISS	974	pfam02460	134254446,NP_000255
5727	160415977	Disease	p.Ser1132Tyr	VAR_010981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010981	- Basal cell nevus syndrome (BCNS) [MIM:109400]	SWISS	974	pfam02460	134254446,NP_000255
5727	160415977	Disease	p.Glu1438Asp	VAR_010984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010984	- Basal cell nevus syndrome (BCNS) [MIM:109400]	SWISS	No Domain	N/A	134254446,NP_000255
5728	42560209	Disease	p.Ala34Asp	VAR_008734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008734	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	24	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Ala34Asp	VAR_008734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008734	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	14	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Ala34Asp	VAR_008734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008734	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	14	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Met35Arg	VAR_008036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008036	- Cowden disease (CD) [MIM:158350]	SWISS	42	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Met35Arg	VAR_008036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008036	- Cowden disease (CD) [MIM:158350]	SWISS	16	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Met35Arg	VAR_008036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008036	- Cowden disease (CD) [MIM:158350]	SWISS	16	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Arg47Gly	VAR_011587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011587	- Cowden disease (CD) [MIM:158350]	SWISS	54	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Arg47Gly	VAR_011587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011587	- Cowden disease (CD) [MIM:158350]	SWISS	71	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Arg47Gly	VAR_011587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011587	- Cowden disease (CD) [MIM:158350]	SWISS	71	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Ile67Arg	VAR_007461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007461	- Cowden disease (CD) [MIM:158350]	SWISS	73	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Ile67Arg	VAR_007461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007461	- Cowden disease (CD) [MIM:158350]	SWISS	132	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Ile67Arg	VAR_007461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007461	- Cowden disease (CD) [MIM:158350]	SWISS	132	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Tyr68His	VAR_007462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007462	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	74	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Tyr68His	VAR_007462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007462	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	133	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Tyr68His	VAR_007462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007462	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	133	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Tyr68His	VAR_007462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007462	- Cowden disease (CD) [MIM:158350]	SWISS	74	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Tyr68His	VAR_007462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007462	- Cowden disease (CD) [MIM:158350]	SWISS	133	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Tyr68His	VAR_007462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007462	- Cowden disease (CD) [MIM:158350]	SWISS	133	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Leu70Pro	VAR_018102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018102	- Cowden disease (CD) [MIM:158350]	SWISS	76	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Leu70Pro	VAR_018102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018102	- Cowden disease (CD) [MIM:158350]	SWISS	142	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Leu70Pro	VAR_018102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018102	- Cowden disease (CD) [MIM:158350]	SWISS	142	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Cys71Tyr	VAR_026254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026254	- Cowden disease (CD) [MIM:158350]	SWISS	77	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Cys71Tyr	VAR_026254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026254	- Cowden disease (CD) [MIM:158350]	SWISS	143	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Cys71Tyr	VAR_026254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026254	- Cowden disease (CD) [MIM:158350]	SWISS	143	smart00012	73765544,NP_000305
5728	42560209	Disease	p.His93Arg	VAR_032634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032634	- Macrocephaly/autism syndrome [MIM:605309]	SWISS	100	COG2453	73765544,NP_000305
5728	42560209	Disease	p.His93Arg	VAR_032634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032634	- Macrocephaly/autism syndrome [MIM:605309]	SWISS	165	smart00404	73765544,NP_000305
5728	42560209	Disease	p.His93Arg	VAR_032634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032634	- Macrocephaly/autism syndrome [MIM:605309]	SWISS	165	smart00012	73765544,NP_000305
5728	42560209	Disease	p.His93Tyr	VAR_026255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026255	- Cowden disease (CD) [MIM:158350]	SWISS	100	COG2453	73765544,NP_000305
5728	42560209	Disease	p.His93Tyr	VAR_026255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026255	- Cowden disease (CD) [MIM:158350]	SWISS	165	smart00404	73765544,NP_000305
5728	42560209	Disease	p.His93Tyr	VAR_026255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026255	- Cowden disease (CD) [MIM:158350]	SWISS	165	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Cys105Phe	VAR_026256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026256	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	122	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Cys105Phe	VAR_026256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026256	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	197	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Cys105Phe	VAR_026256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026256	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	197	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Cys105Tyr	VAR_008735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008735	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	122	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Cys105Tyr	VAR_008735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008735	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	197	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Cys105Tyr	VAR_008735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008735	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	197	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Asp107Tyr	VAR_026257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026257	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	124	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Asp107Tyr	VAR_026257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026257	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	199	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Asp107Tyr	VAR_026257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026257	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	199	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Leu112Pro	VAR_007807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007807	- Cowden disease (CD) [MIM:158350]	SWISS	129	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Leu112Pro	VAR_007807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007807	- Cowden disease (CD) [MIM:158350]	SWISS	204	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Leu112Pro	VAR_007807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007807	- Cowden disease (CD) [MIM:158350]	SWISS	204	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Leu112Pro	VAR_007807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007807	- Lhermitte-Duclos disease (LDD) [MIM:158350]	SWISS	129	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Leu112Pro	VAR_007807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007807	- Lhermitte-Duclos disease (LDD) [MIM:158350]	SWISS	204	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Leu112Pro	VAR_007807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007807	- Lhermitte-Duclos disease (LDD) [MIM:158350]	SWISS	204	smart00012	73765544,NP_000305
5728	42560209	Disease	p.His123Arg	VAR_007463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007463	- Cowden disease (CD) [MIM:158350]	SWISS	140	COG2453	73765544,NP_000305
5728	42560209	Disease	p.His123Arg	VAR_007463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007463	- Cowden disease (CD) [MIM:158350]	SWISS	235	smart00404	73765544,NP_000305
5728	42560209	Disease	p.His123Arg	VAR_007463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007463	- Cowden disease (CD) [MIM:158350]	SWISS	235	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Cys124Arg	VAR_007464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007464	- Cowden disease (CD) [MIM:158350]	SWISS	141	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Cys124Arg	VAR_007464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007464	- Cowden disease (CD) [MIM:158350]	SWISS	236	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Cys124Arg	VAR_007464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007464	- Cowden disease (CD) [MIM:158350]	SWISS	236	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Cys124Ser	VAR_018104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018104	- Cowden disease (CD) [MIM:158350]	SWISS	141	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Cys124Ser	VAR_018104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018104	- Cowden disease (CD) [MIM:158350]	SWISS	236	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Cys124Ser	VAR_018104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018104	- Cowden disease (CD) [MIM:158350]	SWISS	236	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Gly129Glu	VAR_007465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007465	- Cowden disease (CD) [MIM:158350]	SWISS	146	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Gly129Glu	VAR_007465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007465	- Cowden disease (CD) [MIM:158350]	SWISS	241	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Gly129Glu	VAR_007465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007465	- Cowden disease (CD) [MIM:158350]	SWISS	241	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Arg130Leu	VAR_007467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007467	- Cowden disease (CD) [MIM:158350]	SWISS	147	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Arg130Leu	VAR_007467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007467	- Cowden disease (CD) [MIM:158350]	SWISS	242	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Arg130Leu	VAR_007467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007467	- Cowden disease (CD) [MIM:158350]	SWISS	242	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Arg130Gln	VAR_007468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007468	- Cowden disease (CD) [MIM:158350]	SWISS	147	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Arg130Gln	VAR_007468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007468	- Cowden disease (CD) [MIM:158350]	SWISS	242	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Arg130Gln	VAR_007468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007468	- Cowden disease (CD) [MIM:158350]	SWISS	242	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Ile135Val	VAR_008736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008736	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	152	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Ile135Val	VAR_008736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008736	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	247	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Ile135Val	VAR_008736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008736	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	247	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Cys136Tyr	VAR_007808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007808	- Cowden disease (CD) [MIM:158350]	SWISS	153	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Cys136Tyr	VAR_007808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007808	- Cowden disease (CD) [MIM:158350]	SWISS	248	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Cys136Tyr	VAR_007808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007808	- Cowden disease (CD) [MIM:158350]	SWISS	248	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Tyr155Cys	VAR_026263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026263	- Cowden disease (CD) [MIM:158350]	SWISS	172	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Tyr155Cys	VAR_026263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026263	- Cowden disease (CD) [MIM:158350]	SWISS	340	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Tyr155Cys	VAR_026263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026263	- Cowden disease (CD) [MIM:158350]	SWISS	340	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Gly165Glu	VAR_008739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008739	- Cowden disease (CD) [MIM:158350]	SWISS	183	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Gly165Glu	VAR_008739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008739	- Cowden disease (CD) [MIM:158350]	SWISS	353	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Gly165Glu	VAR_008739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008739	- Cowden disease (CD) [MIM:158350]	SWISS	353	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Gly165Val	VAR_008738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008738	- Cowden disease (CD) [MIM:158350]	SWISS	183	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Gly165Val	VAR_008738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008738	- Cowden disease (CD) [MIM:158350]	SWISS	353	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Gly165Val	VAR_008738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008738	- Cowden disease (CD) [MIM:158350]	SWISS	353	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Ser170Arg	VAR_007470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007470	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	188	COG2453	73765544,NP_000305
5728	42560209	Disease	p.Ser170Arg	VAR_007470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007470	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	359	smart00404	73765544,NP_000305
5728	42560209	Disease	p.Ser170Arg	VAR_007470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007470	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	359	smart00012	73765544,NP_000305
5728	42560209	Disease	p.Phe241Ser	VAR_032636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032636	- Macrocephaly/autism syndrome [MIM:605309]	SWISS	121	pfam10409	73765544,NP_000305
5728	42560209	Disease	p.Pro246Leu	VAR_008740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008740	- Bannayan-Zonana syndrome (BZS) [MIM:153480]	SWISS	126	pfam10409	73765544,NP_000305
5728	42560209	Disease	p.Pro246Leu	VAR_008740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008740	- Cowden disease (CD) [MIM:158350]	SWISS	126	pfam10409	73765544,NP_000305
5728	42560209	Disease	p.Asp252Gly	VAR_032637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032637	- Macrocephaly/autism syndrome [MIM:605309]	SWISS	135	pfam10409	73765544,NP_000305
5728	42560209	Disease	p.Lys289Glu	VAR_008741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008741	- Cowden disease (CD) [MIM:158350]	SWISS	184	pfam10409	73765544,NP_000305
5728	42560209	Disease	p.Asp331Gly	VAR_026275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026275	- Cowden disease (CD) [MIM:158350]	SWISS	366	pfam10409	73765544,NP_000305
5728	42560209	Disease	p.Phe341Val	VAR_026276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026276	- Cowden disease (CD) [MIM:158350]	SWISS	376	pfam10409	73765544,NP_000305
5728	42560209	Disease	p.Lys342Asn	VAR_026277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026277	- Cowden disease (CD) [MIM:158350]	SWISS	377	pfam10409	73765544,NP_000305
5728	42560209	Disease	p.Val343Glu	VAR_008742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008742	- Cowden disease (CD) [MIM:158350]	SWISS	378	pfam10409	73765544,NP_000305
5728	42560209	Disease	p.Phe347Leu	VAR_008743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008743	- Cowden disease (CD) [MIM:158350]	SWISS	382	pfam10409	73765544,NP_000305
5741	131547	Disease	p.Cys18Arg	VAR_006047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006047	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	18	pfam01279	4506267,NP_000306
5741	131547	Disease	p.Ser23Pro	VAR_018464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018464	- Familial isolated hypoparathyroidism (FIH) [MIM:146200]	SWISS	23	pfam01279	4506267,NP_000306
5745	417555	Disease	p.Pro132Leu	VAR_016062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016062	- Chondrodysplasia Blomstrand type (BOCD) [MIM:215045]	SWISS	31	smart00008	296080761,NP_001171673|4506271,NP_000307
5745	417555	Disease	p.Pro132Leu	VAR_016062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016062	- Chondrodysplasia Blomstrand type (BOCD) [MIM:215045]	SWISS	29	pfam02793	296080761,NP_001171673|4506271,NP_000307
5745	417555	Disease	p.Arg150Cys	VAR_016063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016063	- Enchondromatosis [MIM:166000]	SWISS	75	smart00008	296080761,NP_001171673|4506271,NP_000307
5745	417555	Disease	p.Arg150Cys	VAR_016063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016063	- Enchondromatosis [MIM:166000]	SWISS	105	pfam02793	296080761,NP_001171673|4506271,NP_000307
5745	417555	Disease	p.His223Arg	VAR_003582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003582	- Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400]	SWISS	43	pfam00002	296080761,NP_001171673|4506271,NP_000307
5745	417555	Disease	p.Thr410Pro	VAR_003583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003583	- Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400]	SWISS	321	pfam00002	296080761,NP_001171673|4506271,NP_000307
5745	417555	Disease	p.Thr410Arg	VAR_038811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038811	- Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400]	SWISS	321	pfam00002	296080761,NP_001171673|4506271,NP_000307
5745	417555	Disease	p.Ile458Arg	VAR_016064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016064	- Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400]	SWISS	No Domain	N/A	296080761,NP_001171673|4506271,NP_000307
5744	131542	Disease	p.Leu44Pro	VAR_063711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063711	- Brachydactyly type E2 (BDE2) [MIM:613382]	SWISS	10	smart00087	39995093,NP_945317|39995091,NP_945316
5744	131542	Disease	p.Leu44Pro	VAR_063711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063711	- Brachydactyly type E2 (BDE2) [MIM:613382]	SWISS	45	pfam01279	39995093,NP_945317|39995091,NP_945316
5744	131542	Disease	p.Leu60Pro	VAR_063712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063712	- Brachydactyly type E2 (BDE2) [MIM:613382]	SWISS	26	smart00087	39995093,NP_945317|39995091,NP_945316
5744	131542	Disease	p.Leu60Pro	VAR_063712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063712	- Brachydactyly type E2 (BDE2) [MIM:613382]	SWISS	61	pfam01279	39995093,NP_945317|39995091,NP_945316
5781	84028248	Disease	p.Thr2Ile	VAR_027183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027183	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	No Domain	N/A	NULL
5781	84028248	Disease	p.Thr42Ala	VAR_015601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015601	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	51	pfam00017	NULL
5781	84028248	Disease	p.Thr42Ala	VAR_015601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015601	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	131	smart00252	NULL
5781	84028248	Disease	p.Thr42Ala	VAR_015601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015601	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	59	cd00173	NULL
5781	84028248	Disease	p.Asn58Lys	VAR_027184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027184	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	76	pfam00017	NULL
5781	84028248	Disease	p.Asn58Lys	VAR_027184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027184	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	234	smart00252	NULL
5781	84028248	Disease	p.Asn58Lys	VAR_027184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027184	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	92	cd00173	NULL
5781	84028248	Disease	p.Gly60Ala	VAR_015602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015602	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	78	pfam00017	NULL
5781	84028248	Disease	p.Gly60Ala	VAR_015602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015602	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	254	smart00252	NULL
5781	84028248	Disease	p.Gly60Ala	VAR_015602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015602	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	94	cd00173	NULL
5781	84028248	Disease	p.Asp61Gly	VAR_015603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015603	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	79	pfam00017	NULL
5781	84028248	Disease	p.Asp61Gly	VAR_015603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015603	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	272	smart00252	NULL
5781	84028248	Disease	p.Asp61Gly	VAR_015603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015603	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	95	cd00173	NULL
5781	84028248	Disease	p.Asp61Asn	VAR_015604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015604	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	79	pfam00017	NULL
5781	84028248	Disease	p.Asp61Asn	VAR_015604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015604	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	272	smart00252	NULL
5781	84028248	Disease	p.Asp61Asn	VAR_015604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015604	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	95	cd00173	NULL
5781	84028248	Disease	p.Tyr62Asp	VAR_015605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015605	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	80	pfam00017	NULL
5781	84028248	Disease	p.Tyr62Asp	VAR_015605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015605	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	276	smart00252	NULL
5781	84028248	Disease	p.Tyr62Asp	VAR_015605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015605	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	96	cd00173	NULL
5781	84028248	Disease	p.Tyr63Cys	VAR_015606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015606	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	89	pfam00017	NULL
5781	84028248	Disease	p.Tyr63Cys	VAR_015606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015606	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	280	smart00252	NULL
5781	84028248	Disease	p.Tyr63Cys	VAR_015606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015606	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	97	cd00173	NULL
5781	84028248	Disease	p.Glu69Gln	VAR_027185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027185	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	95	pfam00017	NULL
5781	84028248	Disease	p.Glu69Gln	VAR_027185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027185	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	319	smart00252	NULL
5781	84028248	Disease	p.Glu69Gln	VAR_027185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027185	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	121	cd00173	NULL
5781	84028248	Disease	p.Ala72Gly	VAR_015607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015607	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	100	pfam00017	NULL
5781	84028248	Disease	p.Ala72Gly	VAR_015607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015607	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	328	smart00252	NULL
5781	84028248	Disease	p.Ala72Gly	VAR_015607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015607	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	124	cd00173	NULL
5781	84028248	Disease	p.Ala72Ser	VAR_015608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015608	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	100	pfam00017	NULL
5781	84028248	Disease	p.Ala72Ser	VAR_015608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015608	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	328	smart00252	NULL
5781	84028248	Disease	p.Ala72Ser	VAR_015608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015608	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	124	cd00173	NULL
5781	84028248	Disease	p.Thr73Ile	VAR_015609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015609	rs28933387 Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	101	pfam00017	NULL
5781	84028248	Disease	p.Thr73Ile	VAR_015609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015609	rs28933387 Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	329	smart00252	NULL
5781	84028248	Disease	p.Thr73Ile	VAR_015609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015609	rs28933387 Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	125	cd00173	NULL
5781	84028248	Disease	p.Glu76Asp	VAR_015610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015610	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	104	pfam00017	NULL
5781	84028248	Disease	p.Glu76Asp	VAR_015610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015610	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	334	smart00252	NULL
5781	84028248	Disease	p.Glu76Asp	VAR_015610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015610	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	128	cd00173	NULL
5781	84028248	Disease	p.Gln79Pro	VAR_027186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027186	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	107	pfam00017	NULL
5781	84028248	Disease	p.Gln79Pro	VAR_027186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027186	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	337	smart00252	NULL
5781	84028248	Disease	p.Gln79Pro	VAR_027186	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027186	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	131	cd00173	NULL
5781	84028248	Disease	p.Gln79Arg	VAR_015611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015611	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	107	pfam00017	NULL
5781	84028248	Disease	p.Gln79Arg	VAR_015611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015611	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	337	smart00252	NULL
5781	84028248	Disease	p.Gln79Arg	VAR_015611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015611	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	131	cd00173	NULL
5781	84028248	Disease	p.Asp106Ala	VAR_015612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015612	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	No Domain	N/A	NULL
5781	84028248	Disease	p.Glu139Asp	VAR_015613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015613	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	45	cd00173	NULL
5781	84028248	Disease	p.Glu139Asp	VAR_015613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015613	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	38	pfam00017	NULL
5781	84028248	Disease	p.Glu139Asp	VAR_015613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015613	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	62	smart00252	NULL
5781	84028248	Disease	p.Gln256Arg	VAR_027187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027187	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	11	smart00194	NULL
5781	84028248	Disease	p.Gln256Arg	VAR_027187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027187	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	35	COG5599	NULL
5781	84028248	Disease	p.Tyr279Cys	VAR_015614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015614	- LEOPARD syndrome [MIM:151100]	SWISS	90	smart00194	NULL
5781	84028248	Disease	p.Tyr279Cys	VAR_015614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015614	- LEOPARD syndrome [MIM:151100]	SWISS	7	pfam00102	NULL
5781	84028248	Disease	p.Tyr279Cys	VAR_015614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015614	- LEOPARD syndrome [MIM:151100]	SWISS	71	COG5599	NULL
5781	84028248	Disease	p.Tyr279Cys	VAR_015614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015614	- LEOPARD syndrome [MIM:151100]	SWISS	5	cd00047	NULL
5781	84028248	Disease	p.Tyr279Cys	VAR_015614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015614	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	90	smart00194	NULL
5781	84028248	Disease	p.Tyr279Cys	VAR_015614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015614	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	7	pfam00102	NULL
5781	84028248	Disease	p.Tyr279Cys	VAR_015614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015614	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	71	COG5599	NULL
5781	84028248	Disease	p.Tyr279Cys	VAR_015614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015614	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	5	cd00047	NULL
5781	84028248	Disease	p.Tyr279Ser	VAR_027188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027188	- LEOPARD syndrome [MIM:151100]	SWISS	90	smart00194	NULL
5781	84028248	Disease	p.Tyr279Ser	VAR_027188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027188	- LEOPARD syndrome [MIM:151100]	SWISS	7	pfam00102	NULL
5781	84028248	Disease	p.Tyr279Ser	VAR_027188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027188	- LEOPARD syndrome [MIM:151100]	SWISS	71	COG5599	NULL
5781	84028248	Disease	p.Tyr279Ser	VAR_027188	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027188	- LEOPARD syndrome [MIM:151100]	SWISS	5	cd00047	NULL
5781	84028248	Disease	p.Ile282Val	VAR_015615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015615	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	93	smart00194	NULL
5781	84028248	Disease	p.Ile282Val	VAR_015615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015615	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	10	pfam00102	NULL
5781	84028248	Disease	p.Ile282Val	VAR_015615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015615	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	74	COG5599	NULL
5781	84028248	Disease	p.Ile282Val	VAR_015615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015615	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	10	cd00047	NULL
5781	84028248	Disease	p.Phe285Leu	VAR_015617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015617	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	96	smart00194	NULL
5781	84028248	Disease	p.Phe285Leu	VAR_015617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015617	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	13	pfam00102	NULL
5781	84028248	Disease	p.Phe285Leu	VAR_015617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015617	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	77	COG5599	NULL
5781	84028248	Disease	p.Phe285Leu	VAR_015617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015617	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	13	cd00047	NULL
5781	84028248	Disease	p.Phe285Ser	VAR_015616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015616	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	96	smart00194	NULL
5781	84028248	Disease	p.Phe285Ser	VAR_015616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015616	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	13	pfam00102	NULL
5781	84028248	Disease	p.Phe285Ser	VAR_015616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015616	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	77	COG5599	NULL
5781	84028248	Disease	p.Phe285Ser	VAR_015616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015616	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	13	cd00047	NULL
5781	84028248	Disease	p.Asn308Asp	VAR_015619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015619	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	208	smart00194	NULL
5781	84028248	Disease	p.Asn308Asp	VAR_015619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015619	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	65	pfam00102	NULL
5781	84028248	Disease	p.Asn308Asp	VAR_015619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015619	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	128	COG5599	NULL
5781	84028248	Disease	p.Asn308Asp	VAR_015619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015619	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	92	cd00047	NULL
5781	84028248	Disease	p.Asn308Ser	VAR_015618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015618	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	208	smart00194	NULL
5781	84028248	Disease	p.Asn308Ser	VAR_015618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015618	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	65	pfam00102	NULL
5781	84028248	Disease	p.Asn308Ser	VAR_015618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015618	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	128	COG5599	NULL
5781	84028248	Disease	p.Asn308Ser	VAR_015618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015618	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	92	cd00047	NULL
5781	84028248	Disease	p.Asn308Ser	VAR_015618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015618	- Noonan-like syndrome (NSL) [MIM:163955]	SWISS	208	smart00194	NULL
5781	84028248	Disease	p.Asn308Ser	VAR_015618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015618	- Noonan-like syndrome (NSL) [MIM:163955]	SWISS	65	pfam00102	NULL
5781	84028248	Disease	p.Asn308Ser	VAR_015618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015618	- Noonan-like syndrome (NSL) [MIM:163955]	SWISS	128	COG5599	NULL
5781	84028248	Disease	p.Asn308Ser	VAR_015618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015618	- Noonan-like syndrome (NSL) [MIM:163955]	SWISS	92	cd00047	NULL
5781	84028248	Disease	p.Ile309Val	VAR_015620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015620	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	209	smart00194	NULL
5781	84028248	Disease	p.Ile309Val	VAR_015620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015620	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	66	pfam00102	NULL
5781	84028248	Disease	p.Ile309Val	VAR_015620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015620	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	129	COG5599	NULL
5781	84028248	Disease	p.Ile309Val	VAR_015620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015620	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	93	cd00047	NULL
5781	84028248	Disease	p.Thr415Met	VAR_027189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027189	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	642	smart00194	NULL
5781	84028248	Disease	p.Thr415Met	VAR_027189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027189	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	262	pfam00102	NULL
5781	84028248	Disease	p.Thr415Met	VAR_027189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027189	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	251	COG5599	NULL
5781	84028248	Disease	p.Thr415Met	VAR_027189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027189	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	79	COG2453	NULL
5781	84028248	Disease	p.Thr415Met	VAR_027189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027189	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	460	cd00047	NULL
5781	84028248	Disease	p.Ala465Thr	VAR_027190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027190	- LEOPARD syndrome [MIM:151100]	SWISS	792	smart00194	NULL
5781	84028248	Disease	p.Ala465Thr	VAR_027190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027190	- LEOPARD syndrome [MIM:151100]	SWISS	238	smart00404	NULL
5781	84028248	Disease	p.Ala465Thr	VAR_027190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027190	- LEOPARD syndrome [MIM:151100]	SWISS	238	smart00012	NULL
5781	84028248	Disease	p.Ala465Thr	VAR_027190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027190	- LEOPARD syndrome [MIM:151100]	SWISS	360	pfam00102	NULL
5781	84028248	Disease	p.Ala465Thr	VAR_027190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027190	- LEOPARD syndrome [MIM:151100]	SWISS	334	COG5599	NULL
5781	84028248	Disease	p.Ala465Thr	VAR_027190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027190	- LEOPARD syndrome [MIM:151100]	SWISS	143	COG2453	NULL
5781	84028248	Disease	p.Ala465Thr	VAR_027190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027190	- LEOPARD syndrome [MIM:151100]	SWISS	567	cd00047	NULL
5781	84028248	Disease	p.Gly468Ala	VAR_027191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027191	- LEOPARD syndrome [MIM:151100]	SWISS	795	smart00194	NULL
5781	84028248	Disease	p.Gly468Ala	VAR_027191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027191	- LEOPARD syndrome [MIM:151100]	SWISS	241	smart00404	NULL
5781	84028248	Disease	p.Gly468Ala	VAR_027191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027191	- LEOPARD syndrome [MIM:151100]	SWISS	241	smart00012	NULL
5781	84028248	Disease	p.Gly468Ala	VAR_027191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027191	- LEOPARD syndrome [MIM:151100]	SWISS	363	pfam00102	NULL
5781	84028248	Disease	p.Gly468Ala	VAR_027191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027191	- LEOPARD syndrome [MIM:151100]	SWISS	337	COG5599	NULL
5781	84028248	Disease	p.Gly468Ala	VAR_027191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027191	- LEOPARD syndrome [MIM:151100]	SWISS	146	COG2453	NULL
5781	84028248	Disease	p.Gly468Ala	VAR_027191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027191	- LEOPARD syndrome [MIM:151100]	SWISS	570	cd00047	NULL
5781	84028248	Disease	p.Thr472Met	VAR_015621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015621	- LEOPARD syndrome [MIM:151100]	SWISS	799	smart00194	NULL
5781	84028248	Disease	p.Thr472Met	VAR_015621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015621	- LEOPARD syndrome [MIM:151100]	SWISS	245	smart00404	NULL
5781	84028248	Disease	p.Thr472Met	VAR_015621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015621	- LEOPARD syndrome [MIM:151100]	SWISS	245	smart00012	NULL
5781	84028248	Disease	p.Thr472Met	VAR_015621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015621	- LEOPARD syndrome [MIM:151100]	SWISS	367	pfam00102	NULL
5781	84028248	Disease	p.Thr472Met	VAR_015621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015621	- LEOPARD syndrome [MIM:151100]	SWISS	341	COG5599	NULL
5781	84028248	Disease	p.Thr472Met	VAR_015621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015621	- LEOPARD syndrome [MIM:151100]	SWISS	150	COG2453	NULL
5781	84028248	Disease	p.Thr472Met	VAR_015621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015621	- LEOPARD syndrome [MIM:151100]	SWISS	574	cd00047	NULL
5781	84028248	Disease	p.Arg502Leu	VAR_027192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027192	- LEOPARD syndrome [MIM:151100]	SWISS	970	smart00194	NULL
5781	84028248	Disease	p.Arg502Leu	VAR_027192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027192	- LEOPARD syndrome [MIM:151100]	SWISS	346	smart00404	NULL
5781	84028248	Disease	p.Arg502Leu	VAR_027192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027192	- LEOPARD syndrome [MIM:151100]	SWISS	346	smart00012	NULL
5781	84028248	Disease	p.Arg502Leu	VAR_027192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027192	- LEOPARD syndrome [MIM:151100]	SWISS	411	pfam00102	NULL
5781	84028248	Disease	p.Arg502Leu	VAR_027192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027192	- LEOPARD syndrome [MIM:151100]	SWISS	385	COG5599	NULL
5781	84028248	Disease	p.Arg502Leu	VAR_027192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027192	- LEOPARD syndrome [MIM:151100]	SWISS	173	COG2453	NULL
5781	84028248	Disease	p.Arg502Leu	VAR_027192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027192	- LEOPARD syndrome [MIM:151100]	SWISS	702	cd00047	NULL
5781	84028248	Disease	p.Arg502Trp	VAR_027193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027193	- LEOPARD syndrome [MIM:151100]	SWISS	970	smart00194	NULL
5781	84028248	Disease	p.Arg502Trp	VAR_027193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027193	- LEOPARD syndrome [MIM:151100]	SWISS	346	smart00404	NULL
5781	84028248	Disease	p.Arg502Trp	VAR_027193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027193	- LEOPARD syndrome [MIM:151100]	SWISS	346	smart00012	NULL
5781	84028248	Disease	p.Arg502Trp	VAR_027193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027193	- LEOPARD syndrome [MIM:151100]	SWISS	411	pfam00102	NULL
5781	84028248	Disease	p.Arg502Trp	VAR_027193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027193	- LEOPARD syndrome [MIM:151100]	SWISS	385	COG5599	NULL
5781	84028248	Disease	p.Arg502Trp	VAR_027193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027193	- LEOPARD syndrome [MIM:151100]	SWISS	173	COG2453	NULL
5781	84028248	Disease	p.Arg502Trp	VAR_027193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027193	- LEOPARD syndrome [MIM:151100]	SWISS	702	cd00047	NULL
5781	84028248	Disease	p.Arg505Lys	VAR_015622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015622	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	973	smart00194	NULL
5781	84028248	Disease	p.Arg505Lys	VAR_015622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015622	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	352	smart00404	NULL
5781	84028248	Disease	p.Arg505Lys	VAR_015622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015622	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	352	smart00012	NULL
5781	84028248	Disease	p.Arg505Lys	VAR_015622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015622	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	415	pfam00102	NULL
5781	84028248	Disease	p.Arg505Lys	VAR_015622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015622	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	388	COG5599	NULL
5781	84028248	Disease	p.Arg505Lys	VAR_015622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015622	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	176	COG2453	NULL
5781	84028248	Disease	p.Arg505Lys	VAR_015622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015622	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	705	cd00047	NULL
5781	84028248	Disease	p.Ser506Thr	VAR_015623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015623	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	974	smart00194	NULL
5781	84028248	Disease	p.Ser506Thr	VAR_015623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015623	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	353	smart00404	NULL
5781	84028248	Disease	p.Ser506Thr	VAR_015623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015623	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	353	smart00012	NULL
5781	84028248	Disease	p.Ser506Thr	VAR_015623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015623	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	416	pfam00102	NULL
5781	84028248	Disease	p.Ser506Thr	VAR_015623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015623	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	389	COG5599	NULL
5781	84028248	Disease	p.Ser506Thr	VAR_015623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015623	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	177	COG2453	NULL
5781	84028248	Disease	p.Ser506Thr	VAR_015623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015623	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	706	cd00047	NULL
5781	84028248	Disease	p.Met508Val	VAR_015624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015624	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	977	smart00194	NULL
5781	84028248	Disease	p.Met508Val	VAR_015624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015624	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	356	smart00404	NULL
5781	84028248	Disease	p.Met508Val	VAR_015624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015624	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	356	smart00012	NULL
5781	84028248	Disease	p.Met508Val	VAR_015624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015624	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	419	pfam00102	NULL
5781	84028248	Disease	p.Met508Val	VAR_015624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015624	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	391	COG5599	NULL
5781	84028248	Disease	p.Met508Val	VAR_015624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015624	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	183	COG2453	NULL
5781	84028248	Disease	p.Met508Val	VAR_015624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015624	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	710	cd00047	NULL
5781	84028248	Disease	p.Gln510Pro	VAR_027194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027194	- LEOPARD syndrome [MIM:151100]	SWISS	979	smart00194	NULL
5781	84028248	Disease	p.Gln510Pro	VAR_027194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027194	- LEOPARD syndrome [MIM:151100]	SWISS	358	smart00404	NULL
5781	84028248	Disease	p.Gln510Pro	VAR_027194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027194	- LEOPARD syndrome [MIM:151100]	SWISS	358	smart00012	NULL
5781	84028248	Disease	p.Gln510Pro	VAR_027194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027194	- LEOPARD syndrome [MIM:151100]	SWISS	421	pfam00102	NULL
5781	84028248	Disease	p.Gln510Pro	VAR_027194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027194	- LEOPARD syndrome [MIM:151100]	SWISS	393	COG5599	NULL
5781	84028248	Disease	p.Gln510Pro	VAR_027194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027194	- LEOPARD syndrome [MIM:151100]	SWISS	185	COG2453	NULL
5781	84028248	Disease	p.Gln510Pro	VAR_027194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027194	- LEOPARD syndrome [MIM:151100]	SWISS	712	cd00047	NULL
5781	84028248	Disease	p.Gln510Arg	VAR_027195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027195	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	979	smart00194	NULL
5781	84028248	Disease	p.Gln510Arg	VAR_027195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027195	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	358	smart00404	NULL
5781	84028248	Disease	p.Gln510Arg	VAR_027195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027195	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	358	smart00012	NULL
5781	84028248	Disease	p.Gln510Arg	VAR_027195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027195	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	421	pfam00102	NULL
5781	84028248	Disease	p.Gln510Arg	VAR_027195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027195	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	393	COG5599	NULL
5781	84028248	Disease	p.Gln510Arg	VAR_027195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027195	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	185	COG2453	NULL
5781	84028248	Disease	p.Gln510Arg	VAR_027195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027195	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	712	cd00047	NULL
5781	84028248	Disease	p.Gln514Pro	VAR_027196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027196	- LEOPARD syndrome [MIM:151100]	SWISS	983	smart00194	NULL
5781	84028248	Disease	p.Gln514Pro	VAR_027196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027196	- LEOPARD syndrome [MIM:151100]	SWISS	362	smart00404	NULL
5781	84028248	Disease	p.Gln514Pro	VAR_027196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027196	- LEOPARD syndrome [MIM:151100]	SWISS	362	smart00012	NULL
5781	84028248	Disease	p.Gln514Pro	VAR_027196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027196	- LEOPARD syndrome [MIM:151100]	SWISS	430	pfam00102	NULL
5781	84028248	Disease	p.Gln514Pro	VAR_027196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027196	- LEOPARD syndrome [MIM:151100]	SWISS	397	COG5599	NULL
5781	84028248	Disease	p.Gln514Pro	VAR_027196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027196	- LEOPARD syndrome [MIM:151100]	SWISS	189	COG2453	NULL
5781	84028248	Disease	p.Gln514Pro	VAR_027196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027196	- LEOPARD syndrome [MIM:151100]	SWISS	716	cd00047	NULL
5781	84028248	Disease	p.Leu564Phe	VAR_027197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027197	- Noonan syndrome type 1 (NS1) [MIM:163950]	SWISS	No Domain	N/A	NULL
374462	158563998	Disease	p.Arg281Gly	VAR_063526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063526	- Deafness autosomal recessive type 84 (DFNB84) [MIM:613391]	SWISS	No Domain	N/A	NULL
5805	417553	Disease	p.Arg16Cys	VAR_006816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006816	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	6	cd00470	4506331,NP_000308
5805	417553	Disease	p.Arg16Cys	VAR_006816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006816	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	4	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Arg16Cys	VAR_006816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006816	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	4	cd00651	4506331,NP_000308
5805	417553	Disease	p.Arg16Cys	VAR_006816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006816	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	7	COG0720	4506331,NP_000308
5805	417553	Disease	p.Arg25Gly	VAR_006817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006817	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	15	cd00470	4506331,NP_000308
5805	417553	Disease	p.Arg25Gly	VAR_006817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006817	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	15	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Arg25Gly	VAR_006817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006817	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	15	cd00651	4506331,NP_000308
5805	417553	Disease	p.Arg25Gly	VAR_006817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006817	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	16	COG0720	4506331,NP_000308
5805	417553	Disease	p.Arg25Gln	VAR_006818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006818	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	15	cd00470	4506331,NP_000308
5805	417553	Disease	p.Arg25Gln	VAR_006818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006818	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	15	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Arg25Gln	VAR_006818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006818	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	15	cd00651	4506331,NP_000308
5805	417553	Disease	p.Arg25Gln	VAR_006818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006818	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	16	COG0720	4506331,NP_000308
5805	417553	Disease	p.Leu26Phe	VAR_058265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058265	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	16	cd00470	4506331,NP_000308
5805	417553	Disease	p.Leu26Phe	VAR_058265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058265	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	16	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Leu26Phe	VAR_058265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058265	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	16	cd00651	4506331,NP_000308
5805	417553	Disease	p.Leu26Phe	VAR_058265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058265	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	17	COG0720	4506331,NP_000308
5805	417553	Disease	p.Glu35Gly	VAR_006819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006819	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	25	cd00470	4506331,NP_000308
5805	417553	Disease	p.Glu35Gly	VAR_006819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006819	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	46	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Glu35Gly	VAR_006819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006819	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	25	cd00651	4506331,NP_000308
5805	417553	Disease	p.Glu35Gly	VAR_006819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006819	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	26	COG0720	4506331,NP_000308
5805	417553	Disease	p.Asn36Lys	VAR_006820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006820	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	26	cd00470	4506331,NP_000308
5805	417553	Disease	p.Asn36Lys	VAR_006820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006820	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	52	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Asn36Lys	VAR_006820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006820	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	26	cd00651	4506331,NP_000308
5805	417553	Disease	p.Asn36Lys	VAR_006820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006820	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	27	COG0720	4506331,NP_000308
5805	417553	Disease	p.Asn47Asp	VAR_008040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008040	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	37	cd00470	4506331,NP_000308
5805	417553	Disease	p.Asn47Asp	VAR_008040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008040	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	77	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Asn47Asp	VAR_008040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008040	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	37	cd00651	4506331,NP_000308
5805	417553	Disease	p.Asn47Asp	VAR_008040	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008040	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	43	COG0720	4506331,NP_000308
5805	417553	Disease	p.Asn52Ser	VAR_006821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006821	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	42	cd00470	4506331,NP_000308
5805	417553	Disease	p.Asn52Ser	VAR_006821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006821	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	89	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Asn52Ser	VAR_006821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006821	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	42	cd00651	4506331,NP_000308
5805	417553	Disease	p.Asn52Ser	VAR_006821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006821	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	48	COG0720	4506331,NP_000308
5805	417553	Disease	p.Val56Met	VAR_006822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006822	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	46	cd00470	4506331,NP_000308
5805	417553	Disease	p.Val56Met	VAR_006822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006822	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	93	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Val56Met	VAR_006822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006822	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	46	cd00651	4506331,NP_000308
5805	417553	Disease	p.Val56Met	VAR_006822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006822	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	52	COG0720	4506331,NP_000308
5805	417553	Disease	p.Thr67Met	VAR_006824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006824	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	57	cd00470	4506331,NP_000308
5805	417553	Disease	p.Thr67Met	VAR_006824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006824	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	125	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Thr67Met	VAR_006824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006824	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	57	cd00651	4506331,NP_000308
5805	417553	Disease	p.Thr67Met	VAR_006824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006824	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	69	COG0720	4506331,NP_000308
5805	417553	Disease	p.Val70Asp	VAR_006825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006825	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	60	cd00470	4506331,NP_000308
5805	417553	Disease	p.Val70Asp	VAR_006825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006825	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	136	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Val70Asp	VAR_006825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006825	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	60	cd00651	4506331,NP_000308
5805	417553	Disease	p.Val70Asp	VAR_006825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006825	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	72	COG0720	4506331,NP_000308
5805	417553	Disease	p.Pro87Leu	VAR_006826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006826	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	77	cd00470	4506331,NP_000308
5805	417553	Disease	p.Pro87Leu	VAR_006826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006826	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	157	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Pro87Leu	VAR_006826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006826	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	85	cd00651	4506331,NP_000308
5805	417553	Disease	p.Pro87Leu	VAR_006826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006826	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	89	COG0720	4506331,NP_000308
5805	417553	Disease	p.Pro87Ser	VAR_006827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006827	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	77	cd00470	4506331,NP_000308
5805	417553	Disease	p.Pro87Ser	VAR_006827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006827	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	157	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Pro87Ser	VAR_006827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006827	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	85	cd00651	4506331,NP_000308
5805	417553	Disease	p.Pro87Ser	VAR_006827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006827	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	89	COG0720	4506331,NP_000308
5805	417553	Disease	p.Asp96Asn	VAR_006828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006828	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	86	cd00470	4506331,NP_000308
5805	417553	Disease	p.Asp96Asn	VAR_006828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006828	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	208	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Asp96Asn	VAR_006828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006828	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	94	cd00651	4506331,NP_000308
5805	417553	Disease	p.Asp96Asn	VAR_006828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006828	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	97	COG0720	4506331,NP_000308
5805	417553	Disease	p.Val97Met	VAR_058266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058266	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	87	cd00470	4506331,NP_000308
5805	417553	Disease	p.Val97Met	VAR_058266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058266	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	213	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Val97Met	VAR_058266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058266	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	95	cd00651	4506331,NP_000308
5805	417553	Disease	p.Val97Met	VAR_058266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058266	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	98	COG0720	4506331,NP_000308
5805	417553	Disease	p.Tyr99Cys	VAR_058267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058267	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	89	cd00470	4506331,NP_000308
5805	417553	Disease	p.Tyr99Cys	VAR_058267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058267	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	248	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Tyr99Cys	VAR_058267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058267	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	97	cd00651	4506331,NP_000308
5805	417553	Disease	p.Tyr99Cys	VAR_058267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058267	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	100	COG0720	4506331,NP_000308
5805	417553	Disease	p.Phe100Val	VAR_006829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006829	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	90	cd00470	4506331,NP_000308
5805	417553	Disease	p.Phe100Val	VAR_006829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006829	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	277	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Phe100Val	VAR_006829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006829	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	98	cd00651	4506331,NP_000308
5805	417553	Disease	p.Phe100Val	VAR_006829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006829	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	101	COG0720	4506331,NP_000308
5805	417553	Disease	p.Thr106Met	VAR_006830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006830	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	96	cd00470	4506331,NP_000308
5805	417553	Disease	p.Thr106Met	VAR_006830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006830	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	380	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Thr106Met	VAR_006830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006830	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	104	cd00651	4506331,NP_000308
5805	417553	Disease	p.Thr106Met	VAR_006830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006830	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	129	COG0720	4506331,NP_000308
5805	417553	Disease	p.Ile114Val	VAR_006831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006831	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	104	cd00470	4506331,NP_000308
5805	417553	Disease	p.Ile114Val	VAR_006831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006831	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	388	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Ile114Val	VAR_006831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006831	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	112	cd00651	4506331,NP_000308
5805	417553	Disease	p.Ile114Val	VAR_006831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006831	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	137	COG0720	4506331,NP_000308
5805	417553	Disease	p.Asp116Gly	VAR_008041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008041	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	106	cd00470	4506331,NP_000308
5805	417553	Disease	p.Asp116Gly	VAR_008041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008041	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	396	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Asp116Gly	VAR_008041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008041	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	114	cd00651	4506331,NP_000308
5805	417553	Disease	p.Asp116Gly	VAR_008041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008041	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	139	COG0720	4506331,NP_000308
5805	417553	Disease	p.Val124Leu	VAR_058268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058268	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	114	cd00470	4506331,NP_000308
5805	417553	Disease	p.Val124Leu	VAR_058268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058268	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	422	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Val124Leu	VAR_058268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058268	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	123	cd00651	4506331,NP_000308
5805	417553	Disease	p.Val124Leu	VAR_058268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058268	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	183	COG0720	4506331,NP_000308
5805	417553	Disease	p.Lys129Glu	VAR_006832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006832	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	120	cd00470	4506331,NP_000308
5805	417553	Disease	p.Lys129Glu	VAR_006832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006832	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	432	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Lys129Glu	VAR_006832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006832	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	128	cd00651	4506331,NP_000308
5805	417553	Disease	p.Lys129Glu	VAR_006832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006832	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	288	COG0720	4506331,NP_000308
5805	417553	Disease	p.Asp136Gly	VAR_058269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058269	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	127	cd00470	4506331,NP_000308
5805	417553	Disease	p.Asp136Gly	VAR_058269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058269	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	446	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Asp136Gly	VAR_058269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058269	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	135	cd00651	4506331,NP_000308
5805	417553	Disease	p.Asp136Gly	VAR_058269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058269	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	295	COG0720	4506331,NP_000308
5805	417553	Disease	p.Asp136Val	VAR_006833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006833	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	127	cd00470	4506331,NP_000308
5805	417553	Disease	p.Asp136Val	VAR_006833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006833	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	446	pfam01242	4506331,NP_000308
5805	417553	Disease	p.Asp136Val	VAR_006833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006833	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	135	cd00651	4506331,NP_000308
5805	417553	Disease	p.Asp136Val	VAR_006833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006833	- BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]	SWISS	295	COG0720	4506331,NP_000308
5831	60416434	Disease	p.Arg119Gly	VAR_059068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059068	- Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940]	SWISS	148	COG0345	24797097,NP_008838
5831	60416434	Disease	p.Arg119Gly	VAR_059068	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059068	- Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940]	SWISS	166	pfam01210	24797097,NP_008838
5831	60416434	Disease	p.Arg119His	VAR_059069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059069	- Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940]	SWISS	148	COG0345	24797097,NP_008838
5831	60416434	Disease	p.Arg119His	VAR_059069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059069	- Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940]	SWISS	166	pfam01210	24797097,NP_008838
5831	60416434	Disease	p.Ala179Thr	VAR_059070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059070	- Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940]	SWISS	210	COG0345	24797097,NP_008838
5831	60416434	Disease	p.Gly206Arg	VAR_059072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059072	- Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940]	SWISS	238	COG0345	24797097,NP_008838
5831	60416434	Disease	p.Gly206Trp	VAR_059073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059073	- Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940]	SWISS	238	COG0345	24797097,NP_008838
5831	60416434	Disease	p.Arg251His	VAR_059074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059074	- Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940]	SWISS	304	COG0345	24797097,NP_008838
5831	60416434	Disease	p.Ala257Thr	VAR_059075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059075	- Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940]	SWISS	310	COG0345	24797097,NP_008838
5831	60416434	Disease	p.Arg266Gln	VAR_059076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059076	- Cutis laxa autosomal recessive type 2B (ARCL2B) [MIM:612940]	SWISS	319	COG0345	24797097,NP_008838
5836	6648082	Disease	p.Asn339Ser	VAR_007908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007908	- Glycogen storage disease type 6 (GSD6) [MIM:232700]	SWISS	235	pfam00343	71037379,NP_002854
5836	6648082	Disease	p.Asn339Ser	VAR_007908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007908	- Glycogen storage disease type 6 (GSD6) [MIM:232700]	SWISS	284	cd01635	71037379,NP_002854
5836	6648082	Disease	p.Asn339Ser	VAR_007908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007908	- Glycogen storage disease type 6 (GSD6) [MIM:232700]	SWISS	345	COG0058	71037379,NP_002854
5836	6648082	Disease	p.Asn339Ser	VAR_007908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007908	- Glycogen storage disease type 6 (GSD6) [MIM:232700]	SWISS	351	cd04300	71037379,NP_002854
5836	6648082	Disease	p.Asn377Lys	VAR_007909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007909	- Glycogen storage disease type 6 (GSD6) [MIM:232700]	SWISS	273	pfam00343	71037379,NP_002854
5836	6648082	Disease	p.Asn377Lys	VAR_007909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007909	- Glycogen storage disease type 6 (GSD6) [MIM:232700]	SWISS	326	cd01635	71037379,NP_002854
5836	6648082	Disease	p.Asn377Lys	VAR_007909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007909	- Glycogen storage disease type 6 (GSD6) [MIM:232700]	SWISS	383	COG0058	71037379,NP_002854
5836	6648082	Disease	p.Asn377Lys	VAR_007909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007909	- Glycogen storage disease type 6 (GSD6) [MIM:232700]	SWISS	389	cd04300	71037379,NP_002854
5837	3041717	Disease	p.Leu116Pro	VAR_014002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014002	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	5	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Leu116Pro	VAR_014002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014002	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	47	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Leu116Pro	VAR_014002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014002	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	115	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Leu116Pro	VAR_014002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014002	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	103	cd04300	5032009,NP_005600
5837	3041717	Disease	p.Arg194Trp	VAR_014003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014003	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	83	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Arg194Trp	VAR_014003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014003	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	132	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Arg194Trp	VAR_014003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014003	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	195	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Arg194Trp	VAR_014003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014003	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	184	cd04300	5032009,NP_005600
5837	3041717	Disease	p.Gly205Ser	VAR_003431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003431	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	94	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Gly205Ser	VAR_003431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003431	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	143	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Gly205Ser	VAR_003431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003431	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	206	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Gly205Ser	VAR_003431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003431	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	196	cd04300	5032009,NP_005600
5837	3041717	Disease	p.Leu292Pro	VAR_014004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014004	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	188	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Leu292Pro	VAR_014004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014004	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	236	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Leu292Pro	VAR_014004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014004	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	305	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Leu292Pro	VAR_014004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014004	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	304	cd04300	5032009,NP_005600
5837	3041717	Disease	p.Glu349Lys	VAR_014005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014005	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	245	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Glu349Lys	VAR_014005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014005	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	294	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Glu349Lys	VAR_014005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014005	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	355	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Glu349Lys	VAR_014005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014005	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	361	cd04300	5032009,NP_005600
5837	3041717	Disease	p.Leu397Pro	VAR_003432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003432	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	293	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Leu397Pro	VAR_003432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003432	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	346	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Leu397Pro	VAR_003432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003432	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	403	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Leu397Pro	VAR_003432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003432	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	409	cd04300	5032009,NP_005600
5837	3041717	Disease	p.Thr488Asn	VAR_014006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014006	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	385	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Thr488Asn	VAR_014006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014006	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	438	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Thr488Asn	VAR_014006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014006	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	497	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Thr488Asn	VAR_014006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014006	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	517	cd04300	5032009,NP_005600
5837	3041717	Disease	p.Lys543Thr	VAR_003433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003433	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	441	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Lys543Thr	VAR_003433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003433	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	503	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Lys543Thr	VAR_003433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003433	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	560	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Lys543Thr	VAR_003433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003433	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	582	cd04300	5032009,NP_005600
5837	3041717	Disease	p.Arg602Trp	VAR_014007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014007	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	503	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Arg602Trp	VAR_014007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014007	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	577	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Arg602Trp	VAR_014007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014007	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	633	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Arg602Trp	VAR_014007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014007	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	662	cd04300	5032009,NP_005600
5837	3041717	Disease	p.Glu655Lys	VAR_003434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003434	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	556	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Glu655Lys	VAR_003434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003434	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	709	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Glu655Lys	VAR_003434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003434	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	687	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Glu655Lys	VAR_003434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003434	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	715	cd04300	5032009,NP_005600
5837	3041717	Disease	p.Ala660Asp	VAR_014008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014008	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	561	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Ala660Asp	VAR_014008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014008	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	714	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Ala660Asp	VAR_014008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014008	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	692	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Ala660Asp	VAR_014008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014008	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	720	cd04300	5032009,NP_005600
5837	3041717	Disease	p.Gln666Glu	VAR_014009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014009	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	567	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Gln666Glu	VAR_014009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014009	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	731	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Gln666Glu	VAR_014009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014009	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	698	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Gln666Glu	VAR_014009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014009	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	726	cd04300	5032009,NP_005600
5837	3041717	Disease	p.Asn685Tyr	VAR_014010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014010	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	586	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Asn685Tyr	VAR_014010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014010	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	758	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Asn685Tyr	VAR_014010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014010	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	717	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Asn685Tyr	VAR_014010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014010	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	745	cd04300	5032009,NP_005600
5837	3041717	Disease	p.Gly686Arg	VAR_014011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014011	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	587	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Gly686Arg	VAR_014011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014011	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	764	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Gly686Arg	VAR_014011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014011	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	718	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Gly686Arg	VAR_014011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014011	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	746	cd04300	5032009,NP_005600
5837	3041717	Disease	p.Ala687Pro	VAR_014012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014012	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	588	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Ala687Pro	VAR_014012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014012	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	765	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Ala687Pro	VAR_014012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014012	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	719	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Ala687Pro	VAR_014012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014012	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	747	cd04300	5032009,NP_005600
5837	3041717	Disease	p.Ala704Val	VAR_014013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014013	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	605	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Ala704Val	VAR_014013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014013	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	796	cd01635	5032009,NP_005600
5837	3041717	Disease	p.Ala704Val	VAR_014013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014013	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	739	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Ala704Val	VAR_014013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014013	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	764	cd04300	5032009,NP_005600
5837	3041717	Disease	p.Trp798Arg	VAR_014015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014015	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	706	pfam00343	5032009,NP_005600
5837	3041717	Disease	p.Trp798Arg	VAR_014015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014015	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	858	COG0058	5032009,NP_005600
5837	3041717	Disease	p.Trp798Arg	VAR_014015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014015	- Glycogen storage disease type 5 (GSD5) [MIM:232600]	SWISS	871	cd04300	5032009,NP_005600
5860	118572639	Disease	p.Leu14Pro	VAR_008121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008121	- BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]	SWISS	9	COG1028	208973246,NP_000311
5860	118572639	Disease	p.Gly17Arg	VAR_021767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021767	- BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]	SWISS	12	COG1028	208973246,NP_000311
5860	118572639	Disease	p.Gly17Val	VAR_008122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008122	- BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]	SWISS	12	COG1028	208973246,NP_000311
5860	118572639	Disease	p.Gly18Asp	VAR_021768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021768	- BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]	SWISS	13	COG1028	208973246,NP_000311
5860	118572639	Disease	p.Gly23Asp	VAR_006960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006960	- BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]	SWISS	23	COG1028	208973246,NP_000311
5860	118572639	Disease	p.Trp36Arg	VAR_006961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006961	- BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]	SWISS	43	COG1028	208973246,NP_000311
5860	118572639	Disease	p.Gln66Arg	VAR_021769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021769	- BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]	SWISS	144	COG1028	208973246,NP_000311
5860	118572639	Disease	p.Leu74Pro	VAR_006962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006962	- BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]	SWISS	152	COG1028	208973246,NP_000311
5860	118572639	Disease	p.Trp108Gly	VAR_006963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006963	- BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]	SWISS	258	COG1028	208973246,NP_000311
5860	118572639	Disease	p.Pro145Leu	VAR_006965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006965	- BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]	SWISS	403	COG1028	208973246,NP_000311
5860	118572639	Disease	p.Gly149Arg	VAR_021770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021770	- BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]	SWISS	478	COG1028	208973246,NP_000311
5860	118572639	Disease	p.Tyr150Cys	VAR_006966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006966	- BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]	SWISS	479	COG1028	208973246,NP_000311
5860	118572639	Disease	p.Gly151Ser	VAR_006967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006967	- BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]	SWISS	480	COG1028	208973246,NP_000311
5860	118572639	Disease	p.His158Tyr	VAR_006968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006968	- BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]	SWISS	487	COG1028	208973246,NP_000311
5860	118572639	Disease	p.Gly170Ser	VAR_006969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006969	- BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]	SWISS	504	COG1028	208973246,NP_000311
5860	118572639	Disease	p.Phe212Cys	VAR_006970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006970	- BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]	SWISS	633	COG1028	208973246,NP_000311
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	80	cd01866	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	106	pfam08477	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	76	cd04177	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	75	cd04147	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	74	cd04144	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	76	cd01870	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	76	cd04134	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	77	cd04140	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	143	cd00878	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	84	cd04159	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	86	cd00876	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	82	cd04137	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	128	cd04146	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	90	pfam00071	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	83	cd01868	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	79	cd01867	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	126	cd01864	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	76	cd04136	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	76	cd01874	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	121	cd01860	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	76	cd04176	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	76	cd04138	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	76	cd04129	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	77	cd01865	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	76	cd04131	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	78	cd04133	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	77	cd04141	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	79	cd04115	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	76	cd04175	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	78	cd01875	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	76	cd01871	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	104	smart00174	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	83	cd04111	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	219	COG1100	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	71	smart00176	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	191	cd00880	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	391	cd00882	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	77	cd04145	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	92	cd01873	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	78	cd04122	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	79	cd01869	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	88	cd04174	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	82	cd04121	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	83	cd04114	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	82	cd04110	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	98	cd04160	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	77	cd04143	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	78	cd04132	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	78	cd04109	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	86	cd04123	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	80	cd04101	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	77	cd04124	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	77	cd04118	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	76	cd04108	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	142	cd04107	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	101	cd04130	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	233	cd00154	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	76	cd04120	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	163	cd04112	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	71	cd04126	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	164	cd04148	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	180	cd00157	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	79	cd01893	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	78	cd04128	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	98	smart00175	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	76	smart00173	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	124	smart00010	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	98	cd04139	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	90	cd04127	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	75	cd04135	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	70	cd04103	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	86	cd01863	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	76	cd04117	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	80	cd04113	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	78	cd04106	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	79	cd01861	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	82	cd00877	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	77	cd01862	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	109	cd04119	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	104	cd04125	34485716,NP_899050|34485714,NP_057361
51715	12643897	Disease	p.Cys85Arg	VAR_034902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034902	- Carpenter syndrome [MIM:201000]	SWISS	81	cd04116	34485716,NP_899050|34485714,NP_057361
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	68	cd04127	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	58	cd01866	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	54	cd04129	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	53	cd04147	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	54	cd01870	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	54	cd04136	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	56	cd00876	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	98	cd04146	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	68	pfam00071	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	52	cd04144	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	54	cd04134	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	117	cd00878	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	76	cd04160	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	77	pfam08477	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	60	cd04137	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	54	cd04177	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	61	cd01868	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	55	cd04140	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	104	cd01864	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	57	cd01867	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	54	cd01871	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	99	cd01860	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	54	cd04138	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	56	cd04133	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	54	cd01874	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	56	cd04115	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	55	cd01865	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	62	cd04159	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	82	smart00174	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	61	cd04111	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	49	smart00176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	302	cd00882	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	55	cd04141	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	55	cd04145	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	56	cd04122	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	57	cd01869	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	60	cd04121	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	61	cd04114	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	60	cd04110	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	60	cd00877	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	56	cd04106	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	64	cd01863	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	54	cd04117	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	57	cd01861	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	58	cd04113	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	70	cd04102	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	125	cd00157	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	55	cd04118	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	56	cd04109	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	189	cd00154	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	141	cd04112	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	56	cd04132	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	112	cd04107	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	64	cd04123	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	54	cd04176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	58	cd04101	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	197	smart00010	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	55	cd04124	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	54	cd04131	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	55	cd04128	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	84	cd04119	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	54	cd04175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	80	cd04148	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	79	cd04125	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	54	cd04108	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	54	cd04120	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	55	cd04143	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	54	smart00173	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	76	cd04139	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	75	smart00175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	49	cd04126	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	56	cd01875	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	53	cd04130	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	53	cd04135	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	55	cd01862	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	168	COG1100	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	58	cd04172	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Trp73Gly	VAR_010654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010654	rs28938176 Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	59	cd04116	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	125	cd04127	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	115	cd01866	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	111	cd04129	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	110	cd04147	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	110	cd01870	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	116	cd04136	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	163	cd00876	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	174	cd04146	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	135	pfam00071	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	143	cd04144	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	110	cd04134	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	183	cd00878	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	153	cd04160	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	143	pfam08477	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	117	cd04137	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	111	cd04177	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	120	cd01868	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	114	cd04140	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	160	cd01864	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	113	cd01867	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	110	cd01871	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	158	cd01860	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	111	cd04138	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	112	cd04133	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	110	cd01874	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	116	cd04115	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	111	cd01865	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	179	cd04159	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	138	smart00174	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	121	cd04111	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	104	smart00176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	512	cd00882	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	112	cd04141	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	112	cd04145	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	112	cd04122	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	114	cd01869	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	115	cd04121	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	117	cd04114	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	115	cd04110	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	127	cd00877	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	111	cd04106	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	127	cd01863	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	110	cd04117	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	114	cd01861	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	114	cd04113	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	167	cd04102	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	226	cd00157	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	110	cd04118	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	125	cd04109	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	310	cd00154	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	199	cd04112	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	112	cd04132	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	188	cd04107	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	121	cd04123	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	116	cd04176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	115	cd04101	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	271	smart00010	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	111	cd04124	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	110	cd04131	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	111	cd04128	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	203	cd04119	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	111	cd04175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	199	cd04148	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	147	cd04125	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	111	cd04108	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	110	cd04120	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	125	cd04143	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	141	smart00173	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	137	cd04139	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	152	smart00175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	105	cd04126	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	112	cd01875	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	135	cd04130	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	110	cd04135	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	115	cd01862	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	296	COG1100	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	114	cd04172	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Leu130Pro	VAR_011334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011334	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	119	cd04116	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	147	cd04127	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	137	cd01866	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	145	cd04129	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	136	cd04147	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	144	cd01870	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	140	cd04136	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	196	cd00876	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	196	cd04146	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	190	pfam00071	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	165	cd04144	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	165	cd04134	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	223	cd00878	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	226	cd04160	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	144	cd04137	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	133	cd04177	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	143	cd01868	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	137	cd04140	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	182	cd01864	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	136	cd01867	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	145	cd01871	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	219	cd01860	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	134	cd04138	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	144	cd04133	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	144	cd01874	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	152	cd04115	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	133	cd01865	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	280	cd04159	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	207	smart00174	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	146	cd04111	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	124	smart00176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	624	cd00882	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	134	cd04141	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	134	cd04145	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	134	cd04122	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	136	cd01869	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	137	cd04121	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	139	cd04114	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	137	cd04110	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	149	cd00877	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	133	cd04106	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	159	cd01863	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	132	cd04117	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	142	cd01861	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	193	cd04113	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	196	cd04102	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	288	cd00157	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	136	cd04118	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	147	cd04109	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	372	cd00154	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	222	cd04112	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	186	cd04132	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	232	cd04107	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	144	cd04123	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	140	cd04176	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	137	cd04101	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	311	smart00010	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	129	cd04124	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	144	cd04131	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	134	cd04128	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	233	cd04119	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	133	cd04175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	221	cd04148	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	175	cd04125	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	135	cd04108	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	132	cd04120	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	149	cd04143	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	164	smart00173	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	160	cd04139	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	194	smart00175	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	174	cd04126	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	138	cd01875	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	170	cd04130	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	144	cd04135	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	139	cd01862	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	357	COG1100	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	148	cd04172	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
5873	116242744	Disease	p.Ala152Pro	VAR_011335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011335	- Griscelli syndrome type 2 (GS2) [MIM:607624]	SWISS	143	cd04116	34485706,NP_899057|34485709,NP_899058|34485711,NP_899059|19923264,NP_004571
25782	62511132	Disease	p.Gly1052Cys	VAR_029881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029881	- Martsolf syndrome [MIM:212720]	SWISS	No Domain	N/A	19923790,NP_036546
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	127	cd01868	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	120	cd01867	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	128	cd04111	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	145	smart00174	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	122	cd04121	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	122	cd04110	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	119	cd04145	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	140	cd01873	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	119	cd04122	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	121	cd01869	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	117	cd04135	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	122	cd04128	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	134	cd00877	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	132	cd04143	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	154	cd04125	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	132	cd04109	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	117	cd04118	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	195	cd04107	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	119	cd04132	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	118	cd04108	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	206	cd04148	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	112	cd04126	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	119	cd01875	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	160	smart00175	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	174	cd04102	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	148	smart00173	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	206	cd04112	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	117	cd04120	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	233	cd00157	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	142	cd01893	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	117	cd04117	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	142	cd04130	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	116	cd04103	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	134	cd01863	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	121	cd04113	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	118	cd04106	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	121	cd01861	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	122	cd04101	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	128	cd04123	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	123	cd04176	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	122	cd01862	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	129	cd04142	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	144	cd04139	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	289	smart00010	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	117	cd04124	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	210	cd04119	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	118	cd04175	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	317	cd00154	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	124	cd04114	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	111	smart00176	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	119	cd04141	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	167	cd01864	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	165	cd01860	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	118	cd04138	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	117	cd01874	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	132	cd04127	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	119	cd04133	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	117	cd01871	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	123	cd04115	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	118	cd01865	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	143	pfam00025	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	153	COG2229	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	126	cd04116	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	303	COG1100	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	121	cd04172	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	312	cd00880	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	519	cd00882	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	124	cd04137	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	151	cd04144	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	117	cd04147	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	118	cd04129	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	118	cd04177	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	117	cd04131	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	190	cd00878	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	125	cd04157	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	186	cd04159	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	170	cd00876	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	117	cd01870	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	123	cd04136	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	142	pfam00071	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	181	cd04146	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	121	cd04140	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	117	cd04134	34147513,NP_004628
7879	1709999	Disease	p.Leu129Phe	VAR_018722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018722	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	122	cd01866	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	162	cd01868	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	149	cd01867	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	160	cd04111	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	222	smart00174	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	150	cd04121	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	151	cd04110	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	147	cd04145	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	193	cd01873	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	147	cd04122	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	149	cd01869	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	161	cd04135	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	152	cd04128	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	162	cd00877	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	163	cd04143	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	189	cd04125	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	161	cd04109	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	149	cd04118	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	252	cd04107	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	217	cd04132	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	148	cd04108	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	233_G	cd04148	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	201	cd04126	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	143	cd01875	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	217	smart00175	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	225	cd04102	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	180	smart00173	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	235	cd04112	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	146	cd04120	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	303	cd00157	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	177	cd01893	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	146	cd04117	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	184	cd04130	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	145	cd04103	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	172	cd01863	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	207	cd04113	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	146	cd04106	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	158	cd01861	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	150	cd04101	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	157	cd04123	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	153	cd04176	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	173	cd01862	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	158	cd04142	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	173	cd04139	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	339	smart00010	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	142	cd04124	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	247	cd04119	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	147	cd04175	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	399	cd00154	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	153	cd04114	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	137	smart00176	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	147	cd04141	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	197	cd01864	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	241	cd01860	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	147	cd04138	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	142	cd01874	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	160	cd04127	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	158	cd04133	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	141	cd01871	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	166	cd04115	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	146	cd01865	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	187	pfam00025	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	189	COG2229	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	156	cd04116	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	374	COG1100	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	162	cd04172	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	376	cd00880	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	637	cd00882	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	164	cd04137	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	178	cd04144	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	150	cd04147	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	159	cd04129	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	147	cd04177	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	158	cd04131	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	283	cd00878	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	157	cd04157	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	299	cd04159	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	223	cd00876	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	159	cd01870	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	154	cd04136	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	211	pfam00071	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	210	cd04146	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	150	cd04140	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	179	cd04134	34147513,NP_004628
7879	1709999	Disease	p.Lys157Asn	VAR_037887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037887	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	150	cd01866	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	168	cd01868	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	153	cd01867	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	166	cd04111	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	226	smart00174	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	154	cd04121	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	155	cd04110	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	152	cd04145	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	197	cd01873	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	151	cd04122	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	153	cd01869	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	165	cd04135	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	156	cd04128	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	166	cd00877	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	167	cd04143	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	193	cd04125	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	165	cd04109	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	153	cd04118	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	257	cd04107	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	221	cd04132	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	176	cd04108	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	238	cd04148	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	205	cd04126	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	147	cd01875	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	224	smart00175	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	233	cd04102	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	186	smart00173	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	239	cd04112	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	150	cd04120	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	308	cd00157	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	181	cd01893	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	152	cd04117	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	188	cd04130	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	149	cd04103	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	176	cd01863	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	211	cd04113	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	150	cd04106	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	165	cd01861	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	154	cd04101	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	161	cd04123	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	157	cd04176	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	177	cd01862	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	162	cd04142	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	177	cd04139	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	343	smart00010	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	146	cd04124	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	254	cd04119	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	151	cd04175	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	410	cd00154	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	157	cd04114	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	141	smart00176	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	152	cd04141	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	228	cd01864	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	252	cd01860	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	151	cd04138	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	146	cd01874	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	164	cd04127	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	162	cd04133	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	145	cd01871	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	181	cd04115	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	150	cd01865	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	191	pfam00025	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	193	COG2229	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	160	cd04116	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	419	COG1100	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	166	cd04172	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	429	cd00880	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	752	cd00882	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	168	cd04137	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	182	cd04144	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	154	cd04147	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	163	cd04129	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	151	cd04177	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	162	cd04131	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	293	cd00878	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	161	cd04157	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	303	cd04159	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	237	cd00876	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	163	cd01870	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	158	cd04136	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	215	pfam00071	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	219	cd04146	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	154	cd04140	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	183	cd04134	34147513,NP_004628
7879	1709999	Disease	p.Asn161Thr	VAR_037888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037888	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	154	cd01866	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	169	cd01868	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	154	cd01867	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	167	cd04111	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	228	smart00174	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	155	cd04121	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	156	cd04110	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	153	cd04145	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	198	cd01873	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	152	cd04122	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	154	cd01869	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	166	cd04135	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	157	cd04128	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	167	cd00877	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	168	cd04143	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	194	cd04125	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	166	cd04109	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	154	cd04118	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	258	cd04107	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	222	cd04132	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	177	cd04108	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	239	cd04148	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	206	cd04126	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	148	cd01875	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	225	smart00175	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	234	cd04102	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	187	smart00173	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	240	cd04112	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	151	cd04120	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	309	cd00157	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	182	cd01893	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	153	cd04117	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	189	cd04130	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	150	cd04103	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	177	cd01863	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	212	cd04113	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	151	cd04106	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	166	cd01861	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	155	cd04101	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	162	cd04123	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	158	cd04176	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	178	cd01862	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	163	cd04142	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	178	cd04139	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	344	smart00010	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	147	cd04124	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	255	cd04119	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	152	cd04175	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	411	cd00154	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	158	cd04114	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	142	smart00176	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	153	cd04141	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	229	cd01864	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	253	cd01860	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	152	cd04138	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	147	cd01874	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	165	cd04127	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	163	cd04133	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	146	cd01871	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	182	cd04115	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	151	cd01865	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	192	pfam00025	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	194	COG2229	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	161	cd04116	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	420	COG1100	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	167	cd04172	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	430	cd00880	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	753	cd00882	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	169	cd04137	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	183	cd04144	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	155	cd04147	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	164	cd04129	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	152	cd04177	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	164	cd04131	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	294	cd00878	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	162	cd04157	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	304	cd04159	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	238	cd00876	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	164	cd01870	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	159	cd04136	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	216	pfam00071	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	220	cd04146	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	155	cd04140	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	184	cd04134	34147513,NP_004628
7879	1709999	Disease	p.Val162Met	VAR_018723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018723	- Charcot-Marie-Tooth disease type 2B (CMT2B) [MIM:600882]	SWISS	155	cd01866	34147513,NP_004628
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	83	smart00174	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	118	smart00010	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	56	cd01865	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	57	cd04133	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	55	cd04131	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	55	cd04175	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	55	cd04173	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	55	cd04129	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	55	cd04176	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	55	cd04138	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	100	cd01860	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	55	cd01874	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	55	cd04136	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	55	cd01871	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	62	cd04111	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	50	smart00176	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	61	cd04110	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	56	cd04141	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	57	cd04115	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	58	cd01867	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	57	cd04122	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	58	cd01869	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	56	cd04145	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	73	cd01873	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	60	cd04116	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	303	cd00882	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	169	COG1100	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	59	cd01866	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	59	cd04172	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	67	cd04174	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	57	cd01875	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	62	cd04114	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	56	cd04128	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	56	cd04118	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	50	cd04126	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	142	cd04112	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	56	cd01862	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	57	cd04109	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	55	cd04142	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	80	cd04125	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	57	cd04132	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	65	cd01863	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	54	cd04130	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	59	cd04113	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	55	cd04117	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	58	cd01861	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	69	cd04127	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	56	cd04124	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	55	cd04108	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	113	cd04107	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	190	cd00154	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	57	cd04106	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	61	cd00877	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	57	cd01893	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	76	smart00175	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	77	cd04139	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	55	smart00173	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	85	cd04119	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	65	cd04123	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	59	cd04101	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	54	cd04135	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	126	cd00157	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	78	pfam08477	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	69	pfam00071	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	99	cd04146	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	54	cd04147	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	55	cd04177	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	61	cd04137	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	53	cd04144	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	55	cd04134	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	62	cd01868	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	56	cd04140	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	55	cd01870	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	105	cd01864	4506381,NP_002863
5880	131806	Disease	p.Asp57Asn	VAR_017452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017452	- Neutrophil immunodeficiency syndrome [MIM:608203]	SWISS	57	cd00876	4506381,NP_002863
5894	125651	Disease	p.Arg256Ser	VAR_037807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037807	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	65_G	cd05107	4506401,NP_002871
5894	125651	Disease	p.Ser257Leu	VAR_037808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037808	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	66	cd05107	4506401,NP_002871
5894	125651	Disease	p.Ser259Phe	VAR_037809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037809	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	68	cd05107	4506401,NP_002871
5894	125651	Disease	p.Thr260Arg	VAR_037811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037811	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	69	cd05107	4506401,NP_002871
5894	125651	Disease	p.Pro261Ala	VAR_037812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037812	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	70	cd05107	4506401,NP_002871
5894	125651	Disease	p.Pro261Leu	VAR_037813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037813	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	70	cd05107	4506401,NP_002871
5894	125651	Disease	p.Pro261Ser	VAR_037814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037814	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	70	cd05107	4506401,NP_002871
5894	125651	Disease	p.Val263Ala	VAR_037815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037815	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	72	cd05107	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	173	cd06652	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd07845	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd06642	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06655	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145_G	cd08216	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06647	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd06653	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd08228	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd08229	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd08224	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	186	cd06608	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd06643	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd06611	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	169	cd07875	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	73	smart00750	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	193	cd07829	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd06630	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05594	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	143	cd05086	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05591	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd05592	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05604	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd05040	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd05058	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	155	cd05077	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	363	cd00192	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd05078	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	170	cd05037	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142	cd07839	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd05118	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd07831	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	193	cd07840	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05590	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05588	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	137	cd05085	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	137	cd05084	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05041	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd08221	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd05087	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05571	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05619	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	138	cd05595	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05603	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05575	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	138	cd05593	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd05042	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	138	cd05116	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05060	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	138	cd05115	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	161	cd06658	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	210	cd05096	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	177	cd05100	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd06644	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	177	cd05099	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	183	cd05098	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	163	cd07850	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd05109	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	170	cd07838	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	170	cd07854	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	219	cd07830	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd06626	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd06631	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd06651	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	162	cd06618	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	528	smart00220	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	161	cd07880	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	180	cd05101	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd05076	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd06654	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	283	cd05105	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	178	cd05122	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd05615	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd05614	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	170	cd05045	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	163	cd07832	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	161	cd05613	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd05583	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	189	cd07834	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	143	cd07860	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd06627	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	233	cd06606	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd08529	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd07836	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05605	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd07861	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd07863	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd05616	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd05587	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd08222	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd08225	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd08530	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	214	cd08217	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	166	cd08528	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd08218	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd06628	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	143	cd08219	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd08223	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd07853	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd07857	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	162	cd07837	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd06613	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd07846	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	170	cd07833	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd07870	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd06640	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd07847	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd07869	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd06641	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05623	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd06638	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05064	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd06620	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	163	cd05093	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd06646	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	205	cd05057	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06656	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd05063	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	175	cd05049	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	229	cd05046	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	208	cd05051	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	174	cd05097	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	176	cd05050	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	166	cd05094	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	170	cd05048	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd05091	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd05090	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	165	cd05092	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	285	cd05107	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	282	cd05055	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd07858	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	162	cd05089	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	163	cd05061	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	179	cd05056	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd05148	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd07849	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd05052	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd05036	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd06637	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	207	cd05032	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	162	cd05062	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05071	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd05039	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05034	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05067	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd05072	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05069	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd05073	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd05068	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	143	cd05083	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05082	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05070	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	267	cd05104	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd06617	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	162	cd06605	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd07862	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	175	cd05574	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	663	COG0515	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	192	cd06623	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	155	cd06610	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd05612	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd05609	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd06619	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd06622	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	259	cd05581	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd06615	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd06609	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05601	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	197	cd05580	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd07872	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	221	cd05102	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	223	cd05103	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd07871	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd05088	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd07844	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	161	cd07864	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd07873	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	174	cd07866	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	162	cd07843	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	170	cd07835	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	166	cd05035	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156	cd05074	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	170	cd05075	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd05589	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd06621	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05631	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05632	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05630	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05080	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	160	cd07841	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	621	smart00221	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	254	pfam00069	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	318	pfam07714	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	456	smart00219	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd05584	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	141	cd05582	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd05108	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd05113	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05059	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	143	cd05112	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	143	cd05114	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd05111	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06616	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd05066	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd05065	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd05081	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd05079	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	175	cd05038	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	181	cd05033	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd05110	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	195	cd06614	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	188	cd05043	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd07856	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd07852	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	184	cd05095	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd06636	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06612	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05602	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	140	cd05633	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd06629	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd05578	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	141	cd05570	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05579	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	143	cd05577	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	443	cd00180	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05617	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	211	cd05572	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	140	cd05608	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	138	cd05607	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	141	cd05606	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	203	cd08215	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd06625	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	160	cd05044	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd08220	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	136	cd05585	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	155	cd05047	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	659	cd05123	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	162	cd06632	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd08226	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd06917	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	253	cd07842	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	168	cd06635	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd06657	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd06633	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	265	cd05106	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd06645	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd06648	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd07865	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	193	cd05053	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	178	cd06639	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	160	cd06659	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06634	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06607	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	161	cd07878	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	157	cd06624	4506401,NP_002871
5894	125651	Disease	p.Asp486Gly	VAR_037816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037816	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	177	cd07851	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	173	cd06652	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd07845	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd06642	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06655	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145_G	cd08216	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06647	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd06653	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd08228	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd08229	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd08224	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	186	cd06608	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd06643	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd06611	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	169	cd07875	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	73	smart00750	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	193	cd07829	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd06630	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05594	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	143	cd05086	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05591	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd05592	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05604	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd05040	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd05058	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	155	cd05077	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	363	cd00192	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd05078	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	170	cd05037	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142	cd07839	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd05118	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd07831	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	193	cd07840	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05590	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05588	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	137	cd05085	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	137	cd05084	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05041	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd08221	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd05087	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05571	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05619	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	138	cd05595	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05603	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05575	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	138	cd05593	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd05042	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	138	cd05116	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05060	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	138	cd05115	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	161	cd06658	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	210	cd05096	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	177	cd05100	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd06644	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	177	cd05099	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	183	cd05098	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	163	cd07850	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd05109	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	170	cd07838	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	170	cd07854	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	219	cd07830	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd06626	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd06631	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd06651	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	162	cd06618	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	528	smart00220	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	161	cd07880	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	180	cd05101	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd05076	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd06654	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	283	cd05105	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	178	cd05122	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd05615	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd05614	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	170	cd05045	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	163	cd07832	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	161	cd05613	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd05583	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	189	cd07834	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	143	cd07860	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd06627	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	233	cd06606	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd08529	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd07836	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05605	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd07861	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd07863	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd05616	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd05587	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd08222	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd08225	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd08530	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	214	cd08217	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	166	cd08528	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd08218	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd06628	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	143	cd08219	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd08223	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd07853	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd07857	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	162	cd07837	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd06613	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd07846	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	170	cd07833	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd07870	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd06640	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd07847	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd07869	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd06641	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05623	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd06638	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05064	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd06620	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	163	cd05093	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd06646	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	205	cd05057	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06656	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd05063	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	175	cd05049	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	229	cd05046	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	208	cd05051	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	174	cd05097	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	176	cd05050	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	166	cd05094	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	170	cd05048	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd05091	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd05090	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	165	cd05092	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	285	cd05107	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	282	cd05055	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd07858	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	162	cd05089	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	163	cd05061	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	179	cd05056	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd05148	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd07849	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd05052	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd05036	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd06637	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	207	cd05032	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	162	cd05062	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05071	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd05039	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05034	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05067	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd05072	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05069	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd05073	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd05068	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	143	cd05083	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05082	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05070	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	267	cd05104	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd06617	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	162	cd06605	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd07862	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	175	cd05574	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	663	COG0515	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	192	cd06623	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	155	cd06610	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd05612	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd05609	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd06619	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd06622	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	259	cd05581	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd06615	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd06609	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05601	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	197	cd05580	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd07872	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	221	cd05102	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	223	cd05103	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd07871	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd05088	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd07844	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	161	cd07864	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd07873	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	174	cd07866	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	162	cd07843	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	170	cd07835	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	166	cd05035	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156	cd05074	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	170	cd05075	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd05589	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd06621	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05631	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05632	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05630	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05080	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	160	cd07841	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	621	smart00221	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	254	pfam00069	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	318	pfam07714	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	456	smart00219	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd05584	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	141	cd05582	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd05108	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd05113	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05059	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	143	cd05112	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	143	cd05114	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd05111	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06616	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd05066	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd05065	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd05081	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd05079	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	175	cd05038	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	181	cd05033	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd05110	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	195	cd06614	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	188	cd05043	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd07856	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd07852	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	184	cd05095	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd06636	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06612	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05602	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	140	cd05633	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd06629	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd05578	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	141	cd05570	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05579	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	143	cd05577	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	443	cd00180	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139	cd05617	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	211	cd05572	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	140	cd05608	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	138	cd05607	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	141	cd05606	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	203	cd08215	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd06625	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	160	cd05044	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd08220	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	136	cd05585	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	155	cd05047	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	659	cd05123	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	162	cd06632	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd08226	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd06917	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	253	cd07842	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	168	cd06635	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd06657	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd06633	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	265	cd05106	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd06645	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd06648	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd07865	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	193	cd05053	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	178	cd06639	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	160	cd06659	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06634	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06607	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	161	cd07878	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	157	cd06624	4506401,NP_002871
5894	125651	Disease	p.Asp486Asn	VAR_037817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037817	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	177	cd07851	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	182	cd06652	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	168_G	cd07845	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd06642	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd06655	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd08216	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd06647	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06653	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd08228	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd08229	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154_G	cd08224	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	191	cd06608	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd06643	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd06611	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	173_G	cd07875	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	78	smart00750	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	197_G	cd07829	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd06630	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142_G	cd05594	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd05086	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142_G	cd05591	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158_G	cd05592	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142_G	cd05604	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154_G	cd05040	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	155	cd05058	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	161	cd05077	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	366_G	cd00192	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd05078	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	175	cd05037	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd07839	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156_G	cd05118	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156	cd07831	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	198	cd07840	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142_G	cd05590	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142_G	cd05588	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142	cd05085	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd05084	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd05041	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd08221	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd05087	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142_G	cd05571	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142_G	cd05619	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	141_G	cd05595	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142_G	cd05603	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	143_G	cd05575	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	141_G	cd05593	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd05042	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	143	cd05116	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149_G	cd05060	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd05115	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	166	cd06658	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	214_G	cd05096	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	182	cd05100	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06644	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	182	cd05099	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	188	cd05098	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167_G	cd07850	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	157	cd05109	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	175	cd07838	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	176	cd07854	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	225	cd07830	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd06626	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156	cd06631	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06651	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd06618	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	534	smart00220	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	165_G	cd07880	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	185	cd05101	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	173	cd05076	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	165	cd06654	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	288	cd05105	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	183	cd05122	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147_G	cd05615	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd05614	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	174_G	cd05045	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	168	cd07832	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	165_G	cd05613	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd05583	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	193_G	cd07834	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd07860	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06627	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	238	cd06606	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd08529	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd07836	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05605	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149_G	cd07861	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd07863	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd05616	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152_G	cd05587	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd08222	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd08225	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	157	cd08530	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	219	cd08217	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	171	cd08528	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd08218	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156	cd06628	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd08219	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd08223	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151_G	cd07853	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	157	cd07857	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd07837	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd06613	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148_G	cd07846	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	174_G	cd07833	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd07870	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd06640	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd07847	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd07869	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd06641	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd05623	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	172	cd06638	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	155	cd05064	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156	cd06620	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	166_G	cd05093	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd06646	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	210	cd05057	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd06656	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156	cd05063	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	178_G	cd05049	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	236	cd05046	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	218	cd05051	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	178_G	cd05097	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	181	cd05050	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	171	cd05094	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	176	cd05048	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	172	cd05091	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	171_G	cd05090	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	168_G	cd05092	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	290	cd05107	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	296	cd05055	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	157	cd07858	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd05089	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	168	cd05061	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	182_G	cd05056	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd05148	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd07849	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd05052	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	169	cd05036	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd06637	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	211_G	cd05032	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd05062	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05071	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153_G	cd05039	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156	cd05034	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05067	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd05072	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05069	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd05073	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd05068	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd05083	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05082	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05070	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	272	cd05104	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151_G	cd06617	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd06605	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd07862	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	180	cd05574	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	668	COG0515	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	197	cd06623	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	160	cd06610	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148_G	cd05612	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd05609	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd06619	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd06622	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	264	cd05581	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148_G	cd06615	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	172	cd06609	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05601	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	203	cd05580	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd07872	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	226	cd05102	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	228	cd05103	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd07871	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	172	cd05088	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd07844	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	166	cd07864	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd07873	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	179	cd07866	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	166_G	cd07843	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	175	cd07835	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	170_G	cd05035	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	160_G	cd05074	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	175	cd05075	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148_G	cd05589	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156_G	cd06621	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05631	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149_G	cd05632	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05630	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd05080	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164_G	cd07841	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	626	smart00221	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	259	pfam00069	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	323	pfam07714	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	462	smart00219	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150_G	cd05584	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145_G	cd05582	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	157	cd05108	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147_G	cd05113	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149_G	cd05059	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146_G	cd05112	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05114	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	157	cd05111	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	169	cd06616	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd05066	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd05065	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156	cd05081	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	157	cd05079	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	180	cd05038	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	186	cd05033	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	157	cd05110	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	200	cd06614	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	193	cd05043	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156	cd07856	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd07852	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	189	cd05095	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	169	cd06636	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	163	cd06612	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142_G	cd05602	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05633	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156_G	cd06629	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd05578	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145_G	cd05570	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd05579	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd05577	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	448	cd00180	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142_G	cd05617	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	215_G	cd05572	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05608	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	143	cd05607	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd05606	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	208	cd08215	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06625	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	165	cd05044	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd08220	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139_G	cd05585	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	160	cd05047	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	664	cd05123	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd06632	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd08226	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd06917	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	258	cd07842	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	173	cd06635	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd06657	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	169	cd06633	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	270	cd05106	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd06645	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd06648	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	172	cd07865	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	197_G	cd05053	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	183	cd06639	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	165	cd06659	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	163	cd06634	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	163	cd06607	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	166	cd07878	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	160	cd06624	4506401,NP_002871
5894	125651	Disease	p.Thr491Ile	VAR_037818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037818	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	181_G	cd07851	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	182	cd06652	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	168_G	cd07845	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd06642	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd06655	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd08216	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd06647	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06653	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd08228	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd08229	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154_G	cd08224	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	191	cd06608	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd06643	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd06611	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	173_G	cd07875	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	78	smart00750	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	197_G	cd07829	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd06630	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142_G	cd05594	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd05086	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142_G	cd05591	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158_G	cd05592	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142_G	cd05604	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154_G	cd05040	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	155	cd05058	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	161	cd05077	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	366_G	cd00192	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd05078	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	175	cd05037	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd07839	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156_G	cd05118	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156	cd07831	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	198	cd07840	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142_G	cd05590	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142_G	cd05588	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142	cd05085	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd05084	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147	cd05041	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd08221	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd05087	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142_G	cd05571	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142_G	cd05619	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	141_G	cd05595	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142_G	cd05603	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	143_G	cd05575	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	141_G	cd05593	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd05042	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	143	cd05116	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149_G	cd05060	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd05115	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	166	cd06658	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	214_G	cd05096	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	182	cd05100	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06644	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	182	cd05099	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	188	cd05098	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167_G	cd07850	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	157	cd05109	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	175	cd07838	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	176	cd07854	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	225	cd07830	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd06626	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156	cd06631	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06651	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd06618	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	534	smart00220	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	165_G	cd07880	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	185	cd05101	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	173	cd05076	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	165	cd06654	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	288	cd05105	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	183	cd05122	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147_G	cd05615	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd05614	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	174_G	cd05045	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	168	cd07832	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	165_G	cd05613	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd05583	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	193_G	cd07834	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd07860	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06627	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	238	cd06606	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd08529	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd07836	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05605	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149_G	cd07861	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd07863	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd05616	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152_G	cd05587	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd08222	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd08225	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	157	cd08530	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	219	cd08217	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	171	cd08528	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd08218	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156	cd06628	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd08219	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd08223	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151_G	cd07853	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	157	cd07857	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd07837	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd06613	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148_G	cd07846	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	174_G	cd07833	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd07870	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd06640	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd07847	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd07869	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd06641	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd05623	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	172	cd06638	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	155	cd05064	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156	cd06620	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	166_G	cd05093	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd06646	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	210	cd05057	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd06656	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156	cd05063	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	178_G	cd05049	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	236	cd05046	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	218	cd05051	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	178_G	cd05097	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	181	cd05050	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	171	cd05094	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	176	cd05048	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	172	cd05091	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	171_G	cd05090	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	168_G	cd05092	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	290	cd05107	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	296	cd05055	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	157	cd07858	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd05089	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	168	cd05061	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	182_G	cd05056	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd05148	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd07849	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd05052	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	169	cd05036	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd06637	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	211_G	cd05032	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd05062	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05071	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153_G	cd05039	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156	cd05034	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05067	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd05072	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05069	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd05073	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	153	cd05068	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd05083	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05082	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05070	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	272	cd05104	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151_G	cd06617	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd06605	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd07862	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	180	cd05574	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	668	COG0515	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	197	cd06623	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	160	cd06610	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148_G	cd05612	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd05609	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd06619	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd06622	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	264	cd05581	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148_G	cd06615	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	172	cd06609	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05601	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	203	cd05580	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd07872	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	226	cd05102	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	228	cd05103	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	151	cd07871	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	172	cd05088	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd07844	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	166	cd07864	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	152	cd07873	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	179	cd07866	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	166_G	cd07843	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	175	cd07835	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	170_G	cd05035	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	160_G	cd05074	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	175	cd05075	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148_G	cd05589	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156_G	cd06621	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05631	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149_G	cd05632	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05630	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd05080	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164_G	cd07841	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	626	smart00221	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	259	pfam00069	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	323	pfam07714	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	462	smart00219	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150_G	cd05584	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145_G	cd05582	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	157	cd05108	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	147_G	cd05113	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149_G	cd05059	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146_G	cd05112	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd05114	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	157	cd05111	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	169	cd06616	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd05066	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	154	cd05065	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156	cd05081	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	157	cd05079	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	180	cd05038	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	186	cd05033	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	157	cd05110	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	200	cd06614	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	193	cd05043	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156	cd07856	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd07852	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	189	cd05095	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	169	cd06636	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	163	cd06612	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142_G	cd05602	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05633	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	156_G	cd06629	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	149	cd05578	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145_G	cd05570	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	144	cd05579	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	148	cd05577	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	448	cd00180	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	142_G	cd05617	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	215_G	cd05572	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	145	cd05608	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	143	cd05607	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	146	cd05606	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	208	cd08215	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	158	cd06625	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	165	cd05044	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd08220	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	139_G	cd05585	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	160	cd05047	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	664	cd05123	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	167	cd06632	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	150	cd08226	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd06917	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	258	cd07842	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	173	cd06635	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd06657	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	169	cd06633	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	270	cd05106	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	159	cd06645	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	164	cd06648	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	172	cd07865	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	197_G	cd05053	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	183	cd06639	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	165	cd06659	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	163	cd06634	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	163	cd06607	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	166	cd07878	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	160	cd06624	4506401,NP_002871
5894	125651	Disease	p.Thr491Arg	VAR_037819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037819	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	181_G	cd07851	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	286	cd06652	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	296	cd07845	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	254	cd06642	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	270	cd06655	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	312	cd08216	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	270	cd06647	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	263	cd06643	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	318_G	cd07875	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	271	smart00750	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	363	cd07829	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	266	cd06630	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	297	cd05594	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	270	cd05591	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	288	cd05592	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	266	cd05604	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	284	cd07839	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	309	cd05118	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	298	cd07831	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	418	cd07840	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	274	cd05590	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	303	cd05588	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	297	cd05571	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	282	cd05619	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	292	cd05595	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	284	cd05603	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	286	cd05575	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	266	cd05593	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	273	cd06658	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	307	cd05100	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	270	cd06644	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	289	cd05099	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	299	cd05098	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	319	cd07850	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	271	cd05109	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	353	cd07838	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	330	cd07854	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	306	cd06626	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	265	cd06631	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	262	cd06651	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	283	cd06618	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	299	cd07880	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	296	cd05101	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	271	cd06654	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	353	cd05122	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	277	cd05615	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	282	cd05614	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	296	cd07832	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	282	cd05613	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	270	cd05583	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	475	cd07834	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	282	cd07860	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	301	cd06627	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	428	cd06606	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	275	cd07836	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	282	cd05605	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	273	cd07861	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	275	cd07863	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	277	cd05616	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	285	cd05587	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	353	cd07853	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	340	cd07857	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	300	cd07837	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	267	cd06613	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	287	cd07846	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	278	cd07870	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	260	cd06640	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	277	cd07847	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	274	cd07869	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	254	cd06641	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	298	cd05623	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	284	cd06638	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	266	cd05064	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	331	cd06620	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	282	cd05093	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	325	cd05057	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	270	cd06656	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	326	cd05094	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	284	cd05092	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	312	cd07858	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	279	cd05089	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	279	cd05061	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	300	cd05056	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	351	cd07849	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	275	cd06617	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	339	cd06605	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	277	cd07862	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	1240	COG0515	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	339	cd06623	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	290	cd06610	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	271	cd05612	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	302	cd05609	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	290	cd06619	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	288	cd06622	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	285	cd06615	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	293	cd06609	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	286	cd05601	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	340	cd05580	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	279	cd07872	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	268	cd07871	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	284	cd05088	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	270	cd07844	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	286	cd07864	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	273	cd07873	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	338	cd07843	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	296	cd07835	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	299	cd05589	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	275_G	cd06621	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	262	cd05631	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	262	cd05632	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	262	cd05630	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	348	cd07841	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	1081	smart00221	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	294	cd05584	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	269	cd05582	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	281	cd05108	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	271	cd05111	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	280	cd06616	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	285	cd05110	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	308_G	cd06614	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	289	cd07856	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	316	cd07852	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	277	cd06612	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	284	cd05602	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	271	cd05633	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	276	cd06629	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	288	cd05578	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	285	cd05570	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	299	cd05617	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	259	cd05608	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	257	cd05607	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	273	cd05606	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	263	cd05585	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	280_G	cd06632	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	294	cd08226	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	277	cd06917	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	436	cd07842	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	278	cd06635	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	271	cd06657	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	274	cd06633	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	266	cd06645	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	310	cd05053	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	295	cd06639	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	278	cd06659	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	275	cd06634	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	274	cd06607	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	319	cd07878	4506401,NP_002871
5894	125651	Disease	p.Ser612Thr	VAR_037820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037820	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	324	cd07851	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	287	cd06652	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	297	cd07845	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	255	cd06642	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	271	cd06655	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	317	cd08216	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	271	cd06647	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	264	cd06643	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	318_G	cd07875	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	272	smart00750	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	267	cd06630	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	298	cd05594	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	271	cd05591	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	289	cd05592	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	267	cd05604	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	285	cd07839	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	310	cd05118	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	299	cd07831	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	419	cd07840	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	275	cd05590	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	304	cd05588	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	298	cd05571	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	283	cd05619	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	293	cd05595	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	285	cd05603	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	287	cd05575	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	267	cd05593	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	274	cd06658	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	308	cd05100	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	271	cd06644	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	290	cd05099	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	300	cd05098	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	320	cd07850	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	272	cd05109	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	331	cd07854	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	307	cd06626	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	266	cd06631	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	263	cd06651	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	284	cd06618	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	301	cd07880	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	297	cd05101	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	272	cd06654	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	278	cd05615	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	283	cd05614	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	297	cd07832	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	283	cd05613	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	272	cd05583	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	476	cd07834	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	283	cd07860	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	302	cd06627	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	429	cd06606	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	276	cd07836	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	283	cd05605	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	274	cd07861	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	275_G	cd07863	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	278	cd05616	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	286	cd05587	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	354	cd07853	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	341	cd07857	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	301	cd07837	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	288	cd07846	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	279	cd07870	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	261	cd06640	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	278	cd07847	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	275	cd07869	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	255	cd06641	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	299	cd05623	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	285	cd06638	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	332	cd06620	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	283	cd05093	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	326	cd05057	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	271	cd06656	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	327	cd05094	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	285	cd05092	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	313	cd07858	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	280	cd05089	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	280	cd05061	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	301	cd05056	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	352	cd07849	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	276	cd06617	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	340	cd06605	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	278	cd07862	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	1241	COG0515	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	340	cd06623	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	291	cd06610	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	272	cd05612	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	309	cd05609	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	291	cd06619	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	289	cd06622	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	286	cd06615	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	294	cd06609	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	287	cd05601	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	341	cd05580	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	280	cd07872	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	269	cd07871	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	285	cd05088	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	271	cd07844	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	287	cd07864	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	273_G	cd07873	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	339	cd07843	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	297	cd07835	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	300	cd05589	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	275_G	cd06621	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	263	cd05631	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	264	cd05632	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	263	cd05630	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	349	cd07841	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	1082	smart00221	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	295	cd05584	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	270	cd05582	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	282	cd05108	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	272	cd05111	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	281	cd06616	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	286	cd05110	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	308_G	cd06614	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	290	cd07856	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	318	cd07852	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	285	cd05602	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	272	cd05633	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	277	cd06629	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	289	cd05578	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	286	cd05570	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	300	cd05617	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	260	cd05608	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	258	cd05607	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	274	cd05606	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	264	cd05585	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	280_G	cd06632	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	295	cd08226	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	277_G	cd06917	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	437	cd07842	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	279	cd06635	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	273	cd06657	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	275	cd06633	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	311	cd05053	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	296	cd06639	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	279	cd06659	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	276	cd06634	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	275	cd06607	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	320	cd07878	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- LEOPARD syndrome type 2 (LEOPARD syndrome-2) [MIM:611554]	SWISS	326	cd07851	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	287	cd06652	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	297	cd07845	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	255	cd06642	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	271	cd06655	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	317	cd08216	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	271	cd06647	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	264	cd06643	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	318_G	cd07875	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	272	smart00750	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	267	cd06630	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	298	cd05594	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	271	cd05591	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	289	cd05592	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	267	cd05604	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	285	cd07839	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	310	cd05118	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	299	cd07831	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	419	cd07840	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	275	cd05590	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	304	cd05588	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	298	cd05571	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	283	cd05619	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	293	cd05595	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	285	cd05603	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	287	cd05575	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	267	cd05593	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	274	cd06658	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	308	cd05100	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	271	cd06644	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	290	cd05099	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	300	cd05098	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	320	cd07850	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	272	cd05109	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	331	cd07854	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	307	cd06626	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	266	cd06631	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	263	cd06651	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	284	cd06618	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	301	cd07880	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	297	cd05101	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	272	cd06654	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	278	cd05615	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	283	cd05614	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	297	cd07832	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	283	cd05613	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	272	cd05583	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	476	cd07834	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	283	cd07860	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	302	cd06627	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	429	cd06606	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	276	cd07836	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	283	cd05605	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	274	cd07861	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	275_G	cd07863	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	278	cd05616	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	286	cd05587	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	354	cd07853	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	341	cd07857	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	301	cd07837	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	288	cd07846	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	279	cd07870	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	261	cd06640	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	278	cd07847	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	275	cd07869	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	255	cd06641	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	299	cd05623	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	285	cd06638	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	332	cd06620	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	283	cd05093	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	326	cd05057	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	271	cd06656	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	327	cd05094	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	285	cd05092	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	313	cd07858	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	280	cd05089	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	280	cd05061	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	301	cd05056	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	352	cd07849	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	276	cd06617	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	340	cd06605	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	278	cd07862	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	1241	COG0515	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	340	cd06623	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	291	cd06610	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	272	cd05612	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	309	cd05609	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	291	cd06619	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	289	cd06622	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	286	cd06615	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	294	cd06609	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	287	cd05601	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	341	cd05580	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	280	cd07872	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	269	cd07871	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	285	cd05088	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	271	cd07844	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	287	cd07864	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	273_G	cd07873	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	339	cd07843	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	297	cd07835	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	300	cd05589	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	275_G	cd06621	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	263	cd05631	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	264	cd05632	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	263	cd05630	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	349	cd07841	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	1082	smart00221	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	295	cd05584	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	270	cd05582	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	282	cd05108	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	272	cd05111	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	281	cd06616	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	286	cd05110	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	308_G	cd06614	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	290	cd07856	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	318	cd07852	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	285	cd05602	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	272	cd05633	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	277	cd06629	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	289	cd05578	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	286	cd05570	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	300	cd05617	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	260	cd05608	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	258	cd05607	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	274	cd05606	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	264	cd05585	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	280_G	cd06632	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	295	cd08226	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	277_G	cd06917	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	437	cd07842	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	279	cd06635	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	273	cd06657	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	275	cd06633	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	311	cd05053	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	296	cd06639	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	279	cd06659	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	276	cd06634	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	275	cd06607	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	320	cd07878	4506401,NP_002871
5894	125651	Disease	p.Leu613Val	VAR_037821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037821	- Noonan syndrome type 5 (NS5) [MIM:611553]	SWISS	326	cd07851	4506401,NP_002871
5896	131827	Disease	p.Arg314Trp	VAR_045957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045957	- Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Cys328Tyr	VAR_025971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025971	- Omenn syndrome (OS) [MIM:603554]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg396Cys	VAR_008886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008886	- Omenn syndrome (OS) [MIM:603554]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg396His	VAR_008887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008887	- Omenn syndrome (OS) [MIM:603554]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg396Leu	VAR_025972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025972	- Omenn syndrome (OS) [MIM:603554]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Ser401Pro	VAR_025973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025973	- Omenn syndrome (OS) [MIM:603554]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Asp429Gly	VAR_008888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008888	- Omenn syndrome (OS) [MIM:603554]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Met435Val	VAR_025976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025976	- Omenn syndrome (OS) [MIM:603554]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg507Trp	VAR_025979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025979	- Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg559Ser	VAR_025981	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025981	- Omenn syndrome (OS) [MIM:603554]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg561Cys	VAR_008890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008890	- Omenn syndrome (OS) [MIM:603554]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg561His	VAR_008889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008889	- Omenn syndrome (OS) [MIM:603554]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg624Cys	VAR_025982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025982	- Omenn syndrome (OS) [MIM:603554]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg624His	VAR_007803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007803	- Severe combined immunodeficiency, autosomal recessive T cell-negative, B-cell-negative, NK cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Glu669Gly	VAR_025983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025983	- Omenn syndrome (OS) [MIM:603554]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Glu722Lys	VAR_007804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007804	rs28933392 Severe combined immunodeficiency, autosomal recessive T cell-negative, B-cell-negative, NK cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg737His	VAR_008891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008891	- Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg737His	VAR_008891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008891	- Omenn syndrome (OS) [MIM:603554]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg778Gln	VAR_045958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045958	- Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg841Trp	VAR_025985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025985	- Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion severe cytomegalovirus infection and autoimmunity (T-CMVA) [MIM:609889]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Leu885Arg	VAR_008893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008893	- Omenn syndrome (OS) [MIM:603554]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Tyr912Cys	VAR_008894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008894	- Omenn syndrome (OS) [MIM:603554]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg975Gln	VAR_025987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025987	- Omenn syndrome (OS) [MIM:603554]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Arg975Trp	VAR_045959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045959	- Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]	SWISS	No Domain	N/A	4557841,NP_000439
5896	131827	Disease	p.Gln981Pro	VAR_025988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025988	- Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion severe cytomegalovirus infection and autoimmunity (T-CMVA) [MIM:609889]	SWISS	No Domain	N/A	4557841,NP_000439
5897	2498830	Disease	p.Cys41Trp	VAR_008895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008895	- Omenn syndrome (OS) [MIM:603554]	SWISS	41	pfam03089	151301080,NP_000527
5897	2498830	Disease	p.Thr77Asn	VAR_045960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045960	- Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]	SWISS	77	pfam03089	151301080,NP_000527
5897	2498830	Disease	p.Arg229Gln	VAR_005570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005570	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457]	SWISS	230	pfam03089	151301080,NP_000527
5897	2498830	Disease	p.Met285Arg	VAR_008896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008896	- Omenn syndrome (OS) [MIM:603554]	SWISS	287	pfam03089	151301080,NP_000527
5897	2498830	Disease	p.Gly451Ala	VAR_045962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045962	- Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]	SWISS	459	pfam03089	151301080,NP_000527
5897	2498830	Disease	p.Cys478Tyr	VAR_005571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005571	- Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457]	SWISS	486	pfam03089	151301080,NP_000527
5913	145559521	Disease	p.Phe139Ser	VAR_043899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043899	- Fetal akinesia deformation sequence (FADS) [MIM:208150]	SWISS	24	cd00189	15619013,NP_005046
5913	145559521	Disease	p.Phe139Ser	VAR_043899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043899	- Fetal akinesia deformation sequence (FADS) [MIM:208150]	SWISS	273	COG0457	15619013,NP_005046
5913	145559521	Disease	p.Ala189Val	VAR_043902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043902	- Fetal akinesia deformation sequence (FADS) [MIM:208150]	SWISS	116	cd00189	15619013,NP_005046
5913	145559521	Disease	p.Ala189Val	VAR_043902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043902	- Fetal akinesia deformation sequence (FADS) [MIM:208150]	SWISS	395	COG0457	15619013,NP_005046
5921	121743	Disease	p.Cys540Tyr	VAR_017744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017744	- Capillary malformation-arteriovenous malformation (CMAVM) [MIM:608354]	SWISS	239	pfam00169	4506431,NP_002881
5921	121743	Disease	p.Cys540Tyr	VAR_017744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017744	- Capillary malformation-arteriovenous malformation (CMAVM) [MIM:608354]	SWISS	658	smart00233	4506431,NP_002881
5921	121743	Disease	p.Cys540Tyr	VAR_017744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017744	- Capillary malformation-arteriovenous malformation (CMAVM) [MIM:608354]	SWISS	67	cd01241	4506431,NP_002881
5921	121743	Disease	p.Cys540Tyr	VAR_017744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017744	- Capillary malformation-arteriovenous malformation (CMAVM) [MIM:608354]	SWISS	113	cd01238	4506431,NP_002881
5921	121743	Disease	p.Cys540Tyr	VAR_017744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017744	- Capillary malformation-arteriovenous malformation (CMAVM) [MIM:608354]	SWISS	104	cd01246	4506431,NP_002881
5921	121743	Disease	p.Cys540Tyr	VAR_017744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017744	- Capillary malformation-arteriovenous malformation (CMAVM) [MIM:608354]	SWISS	292	cd00821	4506431,NP_002881
5921	121743	Disease	p.Cys540Tyr	VAR_017744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017744	- Capillary malformation-arteriovenous malformation (CMAVM) [MIM:608354]	SWISS	346	cd00900	4506431,NP_002881
5921	121743	Disease	p.Cys540Tyr	VAR_017744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017744	- Capillary malformation-arteriovenous malformation (CMAVM) [MIM:608354]	SWISS	104	cd01245	4506431,NP_002881
5921	121743	Disease	p.Cys540Tyr	VAR_017744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017744	- Capillary malformation-arteriovenous malformation (CMAVM) [MIM:608354]	SWISS	69	cd01235	4506431,NP_002881
5921	121743	Disease	p.Cys540Tyr	VAR_017744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017744	- Capillary malformation-arteriovenous malformation (CMAVM) [MIM:608354]	SWISS	66	cd01252	4506431,NP_002881
30062	296452886	Disease	p.Arg192Gln	VAR_034905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034905	- Microphthalmia isolated type 3 (MCOP3) [MIM:611038]	SWISS	109	COG5576	126116581,NP_038463
30062	296452886	Disease	p.Arg192Gln	VAR_034905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034905	- Microphthalmia isolated type 3 (MCOP3) [MIM:611038]	SWISS	66	pfam00046	126116581,NP_038463
30062	296452886	Disease	p.Arg192Gln	VAR_034905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034905	- Microphthalmia isolated type 3 (MCOP3) [MIM:611038]	SWISS	88	cd00086	126116581,NP_038463
84839	74760880	Disease	p.Arg87Gln	VAR_031907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031907	- Age-related macular degeneration type 6 (ARMD6) [MIM:603075]	SWISS	113	COG5576	14249388,NP_116142
84839	74760880	Disease	p.Gly137Arg	VAR_031908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031908	- Cone-rod dystrophy type 11 (CORD11) [MIM:610381]	SWISS	No Domain	N/A	14249388,NP_116142
282996	182676591	Disease	p.Arg634Gln	VAR_063092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063092	- Cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172]	SWISS	No Domain	N/A	NULL
282996	182676591	Disease	p.Arg636His	VAR_063093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063093	- Cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172]	SWISS	No Domain	N/A	NULL
282996	182676591	Disease	p.Arg636Ser	VAR_063094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063094	- Cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172]	SWISS	No Domain	N/A	NULL
282996	182676591	Disease	p.Ser637Gly	VAR_063095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063095	- Cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172]	SWISS	No Domain	N/A	NULL
282996	182676591	Disease	p.Pro638Leu	VAR_063096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063096	- Cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172]	SWISS	No Domain	N/A	NULL
55131	55976611	Disease	p.Leu351Pro	VAR_045655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045655	- Alopecia neurologic defects and endocrinopathy syndrome (ANES) [MIM:612079]	SWISS	23	smart00360	187960109,NP_060547
55131	55976611	Disease	p.Leu351Pro	VAR_045655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045655	- Alopecia neurologic defects and endocrinopathy syndrome (ANES) [MIM:612079]	SWISS	45	cd00590	187960109,NP_060547
55131	55976611	Disease	p.Leu351Pro	VAR_045655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045655	- Alopecia neurologic defects and endocrinopathy syndrome (ANES) [MIM:612079]	SWISS	24	smart00362	187960109,NP_060547
55131	55976611	Disease	p.Leu351Pro	VAR_045655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045655	- Alopecia neurologic defects and endocrinopathy syndrome (ANES) [MIM:612079]	SWISS	17	pfam00076	187960109,NP_060547
5950	62298174	Disease	p.Ile59Asn	VAR_009276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009276	- Retinol-binding protein deficiency (RBP deficiency) [MIM:180250]	SWISS	28	pfam00061	55743122,NP_006735
5950	62298174	Disease	p.Gly93Asp	VAR_009277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009277	- Retinol-binding protein deficiency (RBP deficiency) [MIM:180250]	SWISS	72	pfam00061	55743122,NP_006735
145226	116242750	Disease	p.Thr49Met	VAR_020858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020858	rs28940314 Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	15	COG3967	186928839,NP_689656
145226	116242750	Disease	p.Thr49Met	VAR_020858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020858	rs28940314 Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	15	COG1028	186928839,NP_689656
145226	116242750	Disease	p.Thr49Met	VAR_020858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020858	rs28940314 Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	27	COG4221	186928839,NP_689656
145226	116242750	Disease	p.Thr49Met	VAR_020858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020858	rs28940314 Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	16	COG0300	186928839,NP_689656
145226	116242750	Disease	p.Thr49Met	VAR_020858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020858	rs28940314 Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	10	pfam00106	186928839,NP_689656
145226	116242750	Disease	p.Thr49Met	VAR_020858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020858	rs28940314 Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	10	pfam08659	186928839,NP_689656
145226	116242750	Disease	p.Ile51Asn	VAR_020859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020859	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	17	COG3967	186928839,NP_689656
145226	116242750	Disease	p.Ile51Asn	VAR_020859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020859	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	22	COG1028	186928839,NP_689656
145226	116242750	Disease	p.Ile51Asn	VAR_020859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020859	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	29	COG4221	186928839,NP_689656
145226	116242750	Disease	p.Ile51Asn	VAR_020859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020859	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	18	COG0300	186928839,NP_689656
145226	116242750	Disease	p.Ile51Asn	VAR_020859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020859	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	12	pfam00106	186928839,NP_689656
145226	116242750	Disease	p.Ile51Asn	VAR_020859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020859	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	15	pfam08659	186928839,NP_689656
145226	116242750	Disease	p.Leu99Ile	VAR_020860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020860	rs28940315 Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	59	COG3967	186928839,NP_689656
145226	116242750	Disease	p.Leu99Ile	VAR_020860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020860	rs28940315 Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	122	COG1028	186928839,NP_689656
145226	116242750	Disease	p.Leu99Ile	VAR_020860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020860	rs28940315 Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	80	COG4221	186928839,NP_689656
145226	116242750	Disease	p.Leu99Ile	VAR_020860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020860	rs28940315 Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	66	COG0300	186928839,NP_689656
145226	116242750	Disease	p.Leu99Ile	VAR_020860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020860	rs28940315 Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	90	pfam00106	186928839,NP_689656
145226	116242750	Disease	p.Leu99Ile	VAR_020860	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020860	rs28940315 Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	114	pfam08659	186928839,NP_689656
145226	116242750	Disease	p.His151Asp	VAR_020861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020861	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	116	COG3967	186928839,NP_689656
145226	116242750	Disease	p.His151Asp	VAR_020861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020861	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	290	COG1028	186928839,NP_689656
145226	116242750	Disease	p.His151Asp	VAR_020861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020861	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	135	COG4221	186928839,NP_689656
145226	116242750	Disease	p.His151Asp	VAR_020861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020861	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	124	COG0300	186928839,NP_689656
145226	116242750	Disease	p.His151Asp	VAR_020861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020861	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	163	pfam00106	186928839,NP_689656
145226	116242750	Disease	p.His151Asp	VAR_020861	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020861	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	176	pfam08659	186928839,NP_689656
145226	116242750	Disease	p.His151Asn	VAR_020862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020862	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	116	COG3967	186928839,NP_689656
145226	116242750	Disease	p.His151Asn	VAR_020862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020862	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	290	COG1028	186928839,NP_689656
145226	116242750	Disease	p.His151Asn	VAR_020862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020862	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	135	COG4221	186928839,NP_689656
145226	116242750	Disease	p.His151Asn	VAR_020862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020862	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	124	COG0300	186928839,NP_689656
145226	116242750	Disease	p.His151Asn	VAR_020862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020862	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	163	pfam00106	186928839,NP_689656
145226	116242750	Disease	p.His151Asn	VAR_020862	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020862	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	176	pfam08659	186928839,NP_689656
145226	116242750	Disease	p.Ser175Pro	VAR_020863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020863	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	141	COG3967	186928839,NP_689656
145226	116242750	Disease	p.Ser175Pro	VAR_020863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020863	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	394	COG1028	186928839,NP_689656
145226	116242750	Disease	p.Ser175Pro	VAR_020863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020863	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	160	COG4221	186928839,NP_689656
145226	116242750	Disease	p.Ser175Pro	VAR_020863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020863	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	160	COG0300	186928839,NP_689656
145226	116242750	Disease	p.Ser175Pro	VAR_020863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020863	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	193	pfam00106	186928839,NP_689656
145226	116242750	Disease	p.Ser175Pro	VAR_020863	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020863	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	203	pfam08659	186928839,NP_689656
145226	116242750	Disease	p.Tyr226Cys	VAR_020864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020864	rs28940313 Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	182	COG3967	186928839,NP_689656
145226	116242750	Disease	p.Tyr226Cys	VAR_020864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020864	rs28940313 Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	520	COG1028	186928839,NP_689656
145226	116242750	Disease	p.Tyr226Cys	VAR_020864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020864	rs28940313 Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	201	COG4221	186928839,NP_689656
145226	116242750	Disease	p.Tyr226Cys	VAR_020864	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020864	rs28940313 Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	202	COG0300	186928839,NP_689656
145226	116242750	Disease	p.Pro230Ala	VAR_020865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020865	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	186	COG3967	186928839,NP_689656
145226	116242750	Disease	p.Pro230Ala	VAR_020865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020865	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	524	COG1028	186928839,NP_689656
145226	116242750	Disease	p.Pro230Ala	VAR_020865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020865	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	205	COG4221	186928839,NP_689656
145226	116242750	Disease	p.Pro230Ala	VAR_020865	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020865	- Leber congenital amaurosis type 13 (LCA13) [MIM:612712]	SWISS	206	COG0300	186928839,NP_689656
5959	2492753	Disease	p.Gly35Ser	VAR_016814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016814	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	12	COG3967	50726952,NP_002896
5959	2492753	Disease	p.Gly35Ser	VAR_016814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016814	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	12	COG1028	50726952,NP_002896
5959	2492753	Disease	p.Gly35Ser	VAR_016814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016814	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	24	COG4221	50726952,NP_002896
5959	2492753	Disease	p.Gly35Ser	VAR_016814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016814	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	13	COG0300	50726952,NP_002896
5959	2492753	Disease	p.Gly35Ser	VAR_016814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016814	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	7	pfam00106	50726952,NP_002896
5959	2492753	Disease	p.Gly35Ser	VAR_016814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016814	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	7	pfam08659	50726952,NP_002896
5959	2492753	Disease	p.Ser73Phe	VAR_009273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009273	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	47	COG3967	50726952,NP_002896
5959	2492753	Disease	p.Ser73Phe	VAR_009273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009273	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	77	COG1028	50726952,NP_002896
5959	2492753	Disease	p.Ser73Phe	VAR_009273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009273	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	62	COG4221	50726952,NP_002896
5959	2492753	Disease	p.Ser73Phe	VAR_009273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009273	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	56	COG0300	50726952,NP_002896
5959	2492753	Disease	p.Ser73Phe	VAR_009273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009273	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	74	pfam00106	50726952,NP_002896
5959	2492753	Disease	p.Ser73Phe	VAR_009273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009273	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	94	pfam08659	50726952,NP_002896
5959	2492753	Disease	p.Gly107Arg	VAR_016815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016815	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	81	COG3967	50726952,NP_002896
5959	2492753	Disease	p.Gly107Arg	VAR_016815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016815	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	194	COG1028	50726952,NP_002896
5959	2492753	Disease	p.Gly107Arg	VAR_016815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016815	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	102	COG4221	50726952,NP_002896
5959	2492753	Disease	p.Gly107Arg	VAR_016815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016815	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	90	COG0300	50726952,NP_002896
5959	2492753	Disease	p.Gly107Arg	VAR_016815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016815	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	115	pfam00106	50726952,NP_002896
5959	2492753	Disease	p.Gly107Arg	VAR_016815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016815	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	142	pfam08659	50726952,NP_002896
5959	2492753	Disease	p.Val132Met	VAR_016816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016816	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	108	COG3967	50726952,NP_002896
5959	2492753	Disease	p.Val132Met	VAR_016816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016816	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	257	COG1028	50726952,NP_002896
5959	2492753	Disease	p.Val132Met	VAR_016816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016816	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	127	COG4221	50726952,NP_002896
5959	2492753	Disease	p.Val132Met	VAR_016816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016816	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	116	COG0300	50726952,NP_002896
5959	2492753	Disease	p.Val132Met	VAR_016816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016816	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	151	pfam00106	50726952,NP_002896
5959	2492753	Disease	p.Val132Met	VAR_016816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016816	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	168	pfam08659	50726952,NP_002896
5959	2492753	Disease	p.Val164Phe	VAR_016817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016817	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	142	COG3967	50726952,NP_002896
5959	2492753	Disease	p.Val164Phe	VAR_016817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016817	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	395	COG1028	50726952,NP_002896
5959	2492753	Disease	p.Val164Phe	VAR_016817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016817	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	161	COG4221	50726952,NP_002896
5959	2492753	Disease	p.Val164Phe	VAR_016817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016817	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	161	COG0300	50726952,NP_002896
5959	2492753	Disease	p.Val164Phe	VAR_016817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016817	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	194	pfam00106	50726952,NP_002896
5959	2492753	Disease	p.Val164Phe	VAR_016817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016817	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	204	pfam08659	50726952,NP_002896
5959	2492753	Disease	p.Val177Gly	VAR_016818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016818	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	156	COG3967	50726952,NP_002896
5959	2492753	Disease	p.Val177Gly	VAR_016818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016818	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	481	COG1028	50726952,NP_002896
5959	2492753	Disease	p.Val177Gly	VAR_016818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016818	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	175	COG4221	50726952,NP_002896
5959	2492753	Disease	p.Val177Gly	VAR_016818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016818	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	176	COG0300	50726952,NP_002896
5959	2492753	Disease	p.Val177Gly	VAR_016818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016818	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	208	pfam00106	50726952,NP_002896
5959	2492753	Disease	p.Val177Gly	VAR_016818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016818	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	221	pfam08659	50726952,NP_002896
5959	2492753	Disease	p.Gly238Trp	VAR_009274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009274	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	241	COG3967	50726952,NP_002896
5959	2492753	Disease	p.Gly238Trp	VAR_009274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009274	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	586	COG1028	50726952,NP_002896
5959	2492753	Disease	p.Gly238Trp	VAR_009274	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009274	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	253	COG0300	50726952,NP_002896
5959	2492753	Disease	p.Cys267Trp	VAR_016819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016819	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	650	COG1028	50726952,NP_002896
5959	2492753	Disease	p.Cys267Trp	VAR_016819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016819	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	286	COG0300	50726952,NP_002896
5959	2492753	Disease	p.Arg280His	VAR_016820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016820	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	299	COG0300	50726952,NP_002896
5959	2492753	Disease	p.Tyr281His	VAR_016821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016821	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	300	COG0300	50726952,NP_002896
5959	2492753	Disease	p.Ala294Pro	VAR_016822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016822	- Retinitis punctata albescens (RPA) [MIM:136880]	SWISS	No Domain	N/A	50726952,NP_002896
5962	464541	Disease	p.Asp578Asn	VAR_036859	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036859	- Deafness autosomal recessive type 24 (DFNB24) [MIM:611022]	SWISS	293	pfam00769	4506467,NP_002897
9401	18206225	Disease	p.Arg1021Trp	VAR_026591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026591	- Baller-Gerold syndrome (BGS) [MIM:218600]	SWISS	863	COG0514	284005309,NP_004251
65055	74733929	Disease	p.Ala20Glu	VAR_027351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027351	- Spastic paraplegia autosomal dominant type 31 (SPG31) [MIM:610250]	SWISS	19	pfam03134	12597657,NP_075063
5972	132326	Disease	p.Leu16Arg	VAR_063770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063770	- Familial juvenile hyperuricemic nephropathy type 2 (HNFJ2) [MIM:613092]	SWISS	No Domain	N/A	4506475,NP_000528
5972	132326	Disease	p.Asp104Asn	VAR_035088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035088	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	25	cd05474	4506475,NP_000528
5972	132326	Disease	p.Asp104Asn	VAR_035088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035088	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	20	pfam00026	4506475,NP_000528
5972	132326	Disease	p.Asp104Asn	VAR_035088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035088	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	23	cd05476	4506475,NP_000528
5972	132326	Disease	p.Asp104Asn	VAR_035088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035088	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	22	cd05477	4506475,NP_000528
5972	132326	Disease	p.Asp104Asn	VAR_035088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035088	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	25	cd05490	4506475,NP_000528
5972	132326	Disease	p.Asp104Asn	VAR_035088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035088	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	27	cd05487	4506475,NP_000528
5972	132326	Disease	p.Asp104Asn	VAR_035088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035088	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	30	cd05485	4506475,NP_000528
5972	132326	Disease	p.Asp104Asn	VAR_035088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035088	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	17	cd05470	4506475,NP_000528
5972	132326	Disease	p.Asp104Asn	VAR_035088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035088	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	29	cd05478	4506475,NP_000528
5972	132326	Disease	p.Asp104Asn	VAR_035088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035088	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	29	cd06098	4506475,NP_000528
5972	132326	Disease	p.Asp104Asn	VAR_035088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035088	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	29	cd05488	4506475,NP_000528
5972	132326	Disease	p.Asp104Asn	VAR_035088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035088	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	22	cd05473	4506475,NP_000528
5972	132326	Disease	p.Asp104Asn	VAR_035088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035088	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	23	cd06096	4506475,NP_000528
5972	132326	Disease	p.Asp104Asn	VAR_035088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035088	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	19	cd06097	4506475,NP_000528
5972	132326	Disease	p.Asp104Asn	VAR_035088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035088	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	19	cd05486	4506475,NP_000528
5972	132326	Disease	p.Asp104Asn	VAR_035088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035088	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	37	cd05471	4506475,NP_000528
5972	132326	Disease	p.Arg230Lys	VAR_035087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035087	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	348	cd05474	4506475,NP_000528
5972	132326	Disease	p.Arg230Lys	VAR_035087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035087	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	194	pfam00026	4506475,NP_000528
5972	132326	Disease	p.Arg230Lys	VAR_035087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035087	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	222	cd05476	4506475,NP_000528
5972	132326	Disease	p.Arg230Lys	VAR_035087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035087	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	145_G	cd05477	4506475,NP_000528
5972	132326	Disease	p.Arg230Lys	VAR_035087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035087	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	163	cd05490	4506475,NP_000528
5972	132326	Disease	p.Arg230Lys	VAR_035087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035087	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	153	cd05487	4506475,NP_000528
5972	132326	Disease	p.Arg230Lys	VAR_035087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035087	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	157	cd05485	4506475,NP_000528
5972	132326	Disease	p.Arg230Lys	VAR_035087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035087	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	154	cd05478	4506475,NP_000528
5972	132326	Disease	p.Arg230Lys	VAR_035087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035087	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	155	cd06098	4506475,NP_000528
5972	132326	Disease	p.Arg230Lys	VAR_035087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035087	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	154	cd05488	4506475,NP_000528
5972	132326	Disease	p.Arg230Lys	VAR_035087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035087	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	153	cd05473	4506475,NP_000528
5972	132326	Disease	p.Arg230Lys	VAR_035087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035087	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	208	cd06096	4506475,NP_000528
5972	132326	Disease	p.Arg230Lys	VAR_035087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035087	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	184	cd06097	4506475,NP_000528
5972	132326	Disease	p.Arg230Lys	VAR_035087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035087	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	144	cd05486	4506475,NP_000528
5972	132326	Disease	p.Arg230Lys	VAR_035087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035087	- Renal tubular dysgenesis (RTD) [MIM:267430]	SWISS	343	cd05471	4506475,NP_000528
5979	547807	Disease	p.Pro20Leu	VAR_009459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009459	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Ser32Leu	VAR_006295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006295	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Leu40Pro	VAR_009492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009492	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Pro64Leu	VAR_006296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006296	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Arg67His	VAR_018153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018153	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Arg77Cys	VAR_009460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009460	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Gly93Ser	VAR_006297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006297	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Arg114His	VAR_018154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018154	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys142Ser	VAR_006298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006298	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys157Tyr	VAR_009461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009461	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Phe174Ser	VAR_009462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009462	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	3	pfam00028	10862703,NP_066124
5979	547807	Disease	p.Phe174Ser	VAR_009462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009462	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	4	cd00031	10862703,NP_066124
5979	547807	Disease	p.Arg180Pro	VAR_009463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009463	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	9	pfam00028	10862703,NP_066124
5979	547807	Disease	p.Arg180Pro	VAR_009463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009463	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	10	cd00031	10862703,NP_066124
5979	547807	Disease	p.Cys197Tyr	VAR_009464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009464	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	31	pfam00028	10862703,NP_066124
5979	547807	Disease	p.Cys197Tyr	VAR_009464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009464	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd00031	10862703,NP_066124
5979	547807	Disease	p.Pro198Thr	VAR_044392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044392	- Renal adysplasia [MIM:191830]	SWISS	32	pfam00028	10862703,NP_066124
5979	547807	Disease	p.Pro198Thr	VAR_044392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044392	- Renal adysplasia [MIM:191830]	SWISS	40	cd00031	10862703,NP_066124
5979	547807	Disease	p.Arg231His	VAR_006299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006299	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	80	pfam00028	10862703,NP_066124
5979	547807	Disease	p.Arg231His	VAR_006299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006299	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	111	cd00031	10862703,NP_066124
5979	547807	Disease	p.Glu251Lys	VAR_006300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006300	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	119	pfam00028	10862703,NP_066124
5979	547807	Disease	p.Glu251Lys	VAR_006300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006300	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd00031	10862703,NP_066124
5979	547807	Disease	p.Arg287Gln	VAR_006301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006301	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	198	cd00031	10862703,NP_066124
5979	547807	Disease	p.Arg313Gln	VAR_009465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009465	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	249	cd00031	10862703,NP_066124
5979	547807	Disease	p.Arg330Gln	VAR_006302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006302	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	278	cd00031	10862703,NP_066124
5979	547807	Disease	p.Asn359Lys	VAR_009466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009466	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	338	cd00031	10862703,NP_066124
5979	547807	Disease	p.Arg360Trp	VAR_009467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009467	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	339	cd00031	10862703,NP_066124
5979	547807	Disease	p.Val376Ala	VAR_044393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044393	- Renal adysplasia [MIM:191830]	SWISS	364	cd00031	10862703,NP_066124
5979	547807	Disease	p.Phe393Leu	VAR_006303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006303	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Asn394His	VAR_044394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044394	- Renal adysplasia [MIM:191830]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Asn394Lys	VAR_009468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009468	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Pro399Leu	VAR_006304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006304	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Ala432Glu	VAR_018155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018155	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Arg475Gln	VAR_006305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006305	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys609Gly	VAR_009470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009470	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys609Arg	VAR_009471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009471	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys609Trp	VAR_006307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006307	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys609Tyr	VAR_006306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006306	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys609Tyr	VAR_006306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006306	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys611Arg	VAR_009473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009473	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys611Ser	VAR_009474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009474	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys611Trp	VAR_006308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006308	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys611Tyr	VAR_006309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006309	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys618Phe	VAR_006312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006312	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys618Gly	VAR_006310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006310	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys618Arg	VAR_006311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006311	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys618Arg	VAR_006311	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006311	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys618Ser	VAR_006313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006313	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys618Ser	VAR_006313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006313	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys618Tyr	VAR_006314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006314	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys620Phe	VAR_006318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006318	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys620Gly	VAR_006315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006315	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys620Arg	VAR_006316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006316	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys620Arg	VAR_006316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006316	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys620Ser	VAR_006317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006317	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys620Trp	VAR_009475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009475	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys620Trp	VAR_009475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009475	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys620Tyr	VAR_006319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006319	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Gln626Lys	VAR_009476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009476	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys630Phe	VAR_006320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006320	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys634Phe	VAR_006324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006324	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys634Gly	VAR_006323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006323	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys634Arg	VAR_006326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006326	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys634Ser	VAR_006327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006327	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys634Trp	VAR_006328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006328	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Cys634Tyr	VAR_006325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006325	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Ala640Gly	VAR_009480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009480	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	No Domain	N/A	10862703,NP_066124
5979	547807	Disease	p.Ser690Pro	VAR_006331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006331	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	4	cd05106	10862703,NP_066124
5979	547807	Disease	p.Ser690Pro	VAR_006331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006331	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	4	cd05104	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd06917	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd08221	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	32	cd05115	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd06650	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd06612	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd06640	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd07845	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd06642	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd06641	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd06613	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	82	smart00220	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd06632	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd06631	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd05584	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05605	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd07836	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd07841	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd08529	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	53	cd07834	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd08225	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd08530	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd08218	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd08223	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd06628	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05631	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05587	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd08222	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd07829	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	50	cd05122	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	48	cd06606	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd06629	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd06627	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd07861	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47	cd08528	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd05045	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd06630	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd08215	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd05578	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd06651	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd05614	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd05613	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd05583	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd07860	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	33	cd05608	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	33	cd05607	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40_G	cd05577	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	68	cd00180	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	77	cd05572	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	28	cd05585	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	29	cd05579	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	32	cd05123	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	57	cd05101	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd08220	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd05108	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	51	cd07878	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	54	cd06656	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	52	cd06634	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43_G	cd06645	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	54	cd06655	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	54	cd06647	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	79	cd05106	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	75	cd05104	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd05089	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd05036	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	77	cd05032	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd05062	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	68	cd05056	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd07858	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd05083	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd05082	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd05069	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd05072	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd05068	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd05039	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd05034	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd05073	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd05067	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd05148	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd05070	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd06644	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd05052	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd05071	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd05061	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	202	COG0515	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd07839	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd06617	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	115	cd07842	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd06610	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	57	cd06619	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd06621	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd06623	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd06605	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd06615	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd07832	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd05581	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	49	cd06609	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd08228	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd06625	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd08219	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd08229	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	83	cd05580	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd06622	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd05574	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd05612	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd05088	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd07844	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47	cd07866	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd05109	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd05111	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd05110	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd06616	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd05065	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05081	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05079	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd05066	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	66	cd05033	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd05038	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05080	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd05112	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd05114	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd05113	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd05059	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	53	cd06638	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	77	cd05055	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	105	cd05046	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd05050	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	56	cd05096	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	56	cd05097	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd05049	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	59	cd05095	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	76	cd05051	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd06643	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd05091	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd05048	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd05090	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd07872	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd06620	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd05063	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05064	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd05092	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd06649	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd05093	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd05094	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd06611	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd06653	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05630	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	59	cd05043	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd07847	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd06652	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd08216	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd08224	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	50	cd05076	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd07846	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd07863	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	54_G	cd06659	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	57	cd06639	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	50	cd06607	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd06626	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd07871	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd07873	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47	cd07864	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	30	cd05571	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	30	cd05602	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	30	cd05590	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	30	cd05592	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	30	cd05595	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	30	cd05593	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	32	cd05047	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05060	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd08217	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	32	cd05116	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	53_G	cd05037	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	77	cd00192	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd05078	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd05077	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	30	cd05591	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd05044	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	30	cd05084	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	32	cd05086	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	30	cd05085	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	32	cd05087	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05042	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	30	cd05041	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	34	cd05040	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	34	cd05118	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	30	cd05594	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd07837	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	30	cd05570	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd05058	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	30	cd05619	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	34	cd05582	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	30	cd05603	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd07835	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	60	cd06614	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	49	cd07865	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	55	cd06654	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	52_G	cd06648	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd07856	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	58	cd07840	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	34	cd07831	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd07833	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39_G	cd06637	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd06608	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	50	cd06618	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd06624	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	66	cd05057	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47	cd05103	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47	cd05054	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47	cd05102	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	67	cd07830	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	63	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	134	smart00219	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	34	cd05589	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	smart00221	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd07838	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	48	cd05035	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd05075	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05074	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	54	cd05099	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	54	cd05053	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	57	cd07851	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	58	cd06633	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	54	cd05100	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	77	cd05107	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	77	cd05105	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	60	cd05098	10862703,NP_066124
5979	547807	Disease	p.Glu762Gln	VAR_009481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009481	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	62	cd06635	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd06917	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd08221	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05115	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd06650	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	48	cd06612	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd06640	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd07845	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd06642	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd06641	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd06613	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	102	smart00220	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd06632	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd06631	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd05584	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd05605	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd07836	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd07841	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd08529	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	56	cd07834	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd08225	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd08530	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd08218	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd08223	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	48	cd06628	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd05631	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd05587	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd08222	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	49	cd07829	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	53	cd05122	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	51	cd06606	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd06629	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd06627	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd07861	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	50	cd08528	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05045	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd06630	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd08215	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd05578	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd06651	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd05614	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd05613	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd05583	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd07860	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd05608	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35_G	cd05607	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40_G	cd05577	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	71	cd00180	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	80	cd05572	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	33	cd05585	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	32	cd05579	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05123	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	60	cd05101	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd08220	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	49	cd05108	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	54	cd07878	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	57	cd06656	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	55	cd06634	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd06645	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	57	cd06655	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	57	cd06647	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	82	cd05106	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	78	cd05104	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd05089	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	49	cd05036	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	80	cd05032	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	49	cd05062	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	71	cd05056	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd07858	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd05083	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd05082	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05069	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42_G	cd05072	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42_G	cd05068	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd05039	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42_G	cd05034	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05073	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42_G	cd05067	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42_G	cd05148	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05070	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	49	cd06644	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43_G	cd05052	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05071	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	49	cd05061	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	205	COG0515	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd07839	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd06617	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	138	cd07842	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd06610	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	60	cd06619	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd06621	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47	cd06623	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd06605	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd06615	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd07832	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	90	cd05581	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	52	cd06609	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45_G	cd08228	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd06625	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd08219	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd08229	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	88	cd05580	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd06622	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47	cd05574	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd05612	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47	cd05088	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd07844	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47_G	cd07866	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	49	cd05109	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	49	cd05111	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	49	cd05110	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd06616	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd05065	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd05081	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd05079	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd05066	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	69	cd05033	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	48	cd05038	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd05080	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd05112	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd05114	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd05113	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd05059	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	56	cd06638	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	80	cd05055	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	108	cd05046	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	48	cd05050	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	59	cd05096	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	59	cd05097	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	48	cd05049	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	62	cd05095	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	79	cd05051	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd06643	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	48	cd05091	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	49	cd05048	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47	cd05090	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd07872	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd06620	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47	cd05063	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd05064	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47	cd05092	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd06649	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47	cd05093	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	48	cd05094	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd06611	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd06653	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd05630	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	62	cd05043	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd07847	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd06652	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd08216	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd08224	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	53	cd05076	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd07846	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd07863	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	57	cd06659	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	64	cd06639	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	55	cd06607	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd06626	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd07871	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd07873	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	50	cd07864	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05571	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05602	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05590	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05592	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05595	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05593	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05047	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd05060	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd08217	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05116	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	53_G	cd05037	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	80	cd00192	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd05078	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd05077	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05591	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd05044	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	33	cd05084	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05086	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	32_G	cd05085	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05087	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	38	cd05042	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	33	cd05041	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05040	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05118	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05594	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd07837	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05570	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05058	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	33	cd05619	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36_G	cd05582	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05603	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd07835	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	63	cd06614	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	52	cd07865	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	58	cd06654	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	55	cd06648	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	49	cd07856	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	69	cd07840	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd07831	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd07833	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd06637	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd06608	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	53	cd06618	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd06624	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	69	cd05057	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	50	cd05103	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	50	cd05054	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	50	cd05102	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	70	cd07830	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	68	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	139	smart00219	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	48	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd05589	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	188	smart00221	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd07838	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	51	cd05035	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd05075	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd05074	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	57	cd05099	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	57	cd05053	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	61	cd07851	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	61	cd06633	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	57	cd05100	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	80	cd05107	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	80	cd05105	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	63	cd05098	10862703,NP_066124
5979	547807	Disease	p.Ser765Pro	VAR_009493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009493	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd06635	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd06917	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd08221	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05115	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd06650	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	51	cd06612	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd06640	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	52	cd07845	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd06642	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd06641	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd06613	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	110	smart00220	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	51	cd06632	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd06631	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05584	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd05605	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd07836	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd07841	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd08529	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	68	cd07834	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd08225	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd08530	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd08218	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd08223	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	50	cd06628	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd05631	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd05587	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd08222	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	51	cd07829	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	57	cd05122	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	103	cd06606	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd06629	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd06627	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd07861	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	59	cd08528	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd05045	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd06630	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	59	cd08215	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd05578	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd06651	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd05614	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05613	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05583	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd07860	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36_G	cd05608	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd05607	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40_G	cd05577	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	73	cd00180	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	84	cd05572	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05585	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	36	cd05579	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05123	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	62	cd05101	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd08220	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	51	cd05108	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	56	cd07878	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	60	cd06656	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	57	cd06634	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47	cd06645	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	60	cd06655	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	60	cd06647	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	84	cd05106	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	80	cd05104	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd05089	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	51	cd05036	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	82	cd05032	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	51	cd05062	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	78	cd05056	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47	cd07858	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42_G	cd05083	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42_G	cd05082	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd05069	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05072	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05068	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd05039	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05034	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd05073	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05067	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05148	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd05070	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	51	cd06644	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd05052	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd05071	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	51	cd05061	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	207	COG0515	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd07839	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd06617	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	140	cd07842	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd06610	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	62	cd06619	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd06621	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	51	cd06623	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd06605	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd06615	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47	cd07832	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	93	cd05581	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	54	cd06609	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45_G	cd08228	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd06625	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd08219	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd08229	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	90	cd05580	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd06622	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	58	cd05574	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05612	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	49	cd05088	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd07844	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47_G	cd07866	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	51	cd05109	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	51	cd05111	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	51	cd05110	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	51	cd06616	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47	cd05065	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47	cd05081	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	48	cd05079	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47	cd05066	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	71	cd05033	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	52	cd05038	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	48	cd05080	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05112	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05114	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd05113	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd05059	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	58	cd06638	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	82	cd05055	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	110	cd05046	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	50	cd05050	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	61	cd05096	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	61	cd05097	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	50	cd05049	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	64	cd05095	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	83	cd05051	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd06643	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	50	cd05091	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	51	cd05048	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	49	cd05090	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd07872	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd06620	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	49	cd05063	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	48	cd05064	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	49	cd05092	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd06649	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	49	cd05093	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	49	cd05094	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd06611	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd06653	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd05630	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	64	cd05043	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd07847	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd06652	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd08216	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd08224	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	55	cd05076	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd07846	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	48	cd07863	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	59	cd06659	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	66	cd06639	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	57	cd06607	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd06626	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd07871	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd07873	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	52	cd07864	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05571	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05602	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05590	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05592	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05595	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05593	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05047	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05060	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd08217	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05116	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	54	cd05037	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	82	cd00192	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05078	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05077	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05591	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd05044	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05084	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05086	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	34	cd05085	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05087	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	40	cd05042	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	35	cd05041	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd05040	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05118	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05594	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	46	cd07837	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05570	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	45	cd05058	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05619	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05582	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	37	cd05603	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd07835	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	70	cd06614	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	54	cd07865	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	61	cd06654	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	57	cd06648	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	51	cd07856	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	71	cd07840	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	39	cd07831	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	61	cd07833	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	44	cd06637	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	69	cd06608	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	55	cd06618	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	47	cd06624	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	100	cd05057	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	52	cd05103	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	52	cd05054	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	52	cd05102	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	72	cd07830	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	70	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	141	smart00219	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	50	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	41	cd05589	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	190	smart00221	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	50	cd07838	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	53	cd05035	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	42	cd05075	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	43	cd05074	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	59	cd05099	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	59	cd05053	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	63	cd07851	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	63	cd06633	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	59	cd05100	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	82	cd05107	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	82	cd05105	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd05098	10862703,NP_066124
5979	547807	Disease	p.Ser767Arg	VAR_006334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006334	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	67	cd06635	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd06917	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd08221	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	48	cd05115	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	56	cd06650	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	62	cd06612	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	55	cd06640	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	59	cd07845	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	55	cd06642	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	55	cd06641	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	55	cd06613	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	166	smart00220	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	62	cd06632	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	55	cd06631	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	57	cd05584	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	53	cd05605	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	51	cd07836	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	66	cd07841	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	56	cd08529	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	79	cd07834	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd08225	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd08530	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd08218	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd08223	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	61	cd06628	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	53	cd05631	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	53	cd05587	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	56	cd08222	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	58	cd07829	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	68	cd05122	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	114	cd06606	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	61	cd06629	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	57	cd06627	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd07861	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	70	cd08528	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	56	cd05045	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	56	cd06630	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	70	cd08215	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	53	cd05578	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	57	cd06651	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	57	cd05614	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	57	cd05613	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	57	cd05583	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd07860	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	46	cd05608	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	46	cd05607	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	46	cd05577	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	141	cd00180	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	95	cd05572	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	46	cd05585	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	47	cd05579	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	75	cd05123	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	73	cd05101	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	54	cd08220	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	62	cd05108	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	67	cd07878	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	69	cd06656	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	68	cd06634	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	59	cd06645	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	69	cd06655	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	69	cd06647	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	95	cd05106	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	91	cd05104	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	55	cd05089	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	62	cd05036	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	93	cd05032	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	62	cd05062	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	89	cd05056	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	58	cd07858	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd05083	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd05082	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	54	cd05069	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	54	cd05072	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	54	cd05068	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	56	cd05039	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	54	cd05034	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	54	cd05073	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	54	cd05067	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	56	cd05148	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	54	cd05070	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	62	cd06644	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	55	cd05052	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	54	cd05071	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	62	cd05061	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	294	COG0515	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd07839	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd06617	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	147	cd07842	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	54	cd06610	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	73	cd06619	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	55	cd06621	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	62	cd06623	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	53	cd06605	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd06615	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	54	cd07832	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	100	cd05581	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	65	cd06609	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	55	cd08228	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	57	cd06625	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	51	cd08219	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	55	cd08229	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	101	cd05580	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd06622	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	69	cd05574	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	54	cd05612	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	60	cd05088	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	56	cd07844	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	61	cd07866	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	62	cd05109	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	62	cd05111	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	62	cd05110	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	62	cd06616	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	58	cd05065	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	58	cd05081	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	59	cd05079	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	58	cd05066	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	82	cd05033	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	63	cd05038	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	59	cd05080	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd05112	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd05114	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd05113	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd05059	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	67	cd06638	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	93	cd05055	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	121	cd05046	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	61	cd05050	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	72	cd05096	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	72	cd05097	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	61	cd05049	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	75	cd05095	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	94	cd05051	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	55	cd06643	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	61	cd05091	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	62	cd05048	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	60	cd05090	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	57	cd07872	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	56	cd06620	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	60	cd05063	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	59	cd05064	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	60	cd05092	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	56	cd06649	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	60	cd05093	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	60	cd05094	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	56	cd06611	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	57	cd06653	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	53	cd05630	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	75	cd05043	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	53	cd07847	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	57	cd06652	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	54	cd08216	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	56	cd08224	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	69	cd05076	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	54	cd07846	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	58	cd07863	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	71	cd06659	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	78	cd06639	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	68	cd06607	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	55	cd06626	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	56	cd07871	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	57	cd07873	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	59	cd07864	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	48	cd05571	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	48	cd05602	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	48	cd05590	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	48	cd05592	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	48	cd05595	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	48	cd05593	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	48	cd05047	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	54	cd05060	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd08217	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	49	cd05116	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	69	cd05037	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	103	cd00192	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd05078	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	57	cd05077	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	48	cd05591	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd05044	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	46	cd05084	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	48	cd05086	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	46	cd05085	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	48	cd05087	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	51	cd05042	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	47	cd05041	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	52	cd05040	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	54	cd05118	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	48	cd05594	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	53	cd07837	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	48	cd05570	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	56	cd05058	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	48	cd05619	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	51	cd05582	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	48	cd05603	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	54	cd07835	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	81	cd06614	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	65	cd07865	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	70	cd06654	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	69	cd06648	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	62	cd07856	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	78	cd07840	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	50	cd07831	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	73	cd07833	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	55	cd06637	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	80	cd06608	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	66	cd06618	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	58	cd06624	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	111	cd05057	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	63	cd05103	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	63	cd05054	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	63	cd05102	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	85	cd07830	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	87	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	181	smart00219	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	81	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	55	cd05589	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	248	smart00221	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	57	cd07838	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	64	cd05035	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	53	cd05075	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	54	cd05074	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	70	cd05099	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	70	cd05053	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	74	cd07851	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	74	cd06633	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	70	cd05100	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	93	cd05107	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	93	cd05105	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	76	cd05098	10862703,NP_066124
5979	547807	Disease	p.Val778Ile	VAR_044395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044395	- Renal adysplasia [MIM:191830]	SWISS	78	cd06635	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	73	cd06917	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd08221	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	60	cd05115	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd06650	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	75	cd06612	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd06640	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	71	cd07845	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd06642	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd06641	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd06613	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	200	smart00220	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	74	cd06632	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd06631	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd05584	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd05605	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	63	cd07836	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	79	cd07841	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd08529	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	94	cd07834	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd08225	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64_G	cd08530	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd08218	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd08223	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	73	cd06628	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd05631	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	71	cd05587	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd08222	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	73	cd07829	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	81	cd05122	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	129	cd06606	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	73	cd06629	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd06627	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd07861	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	83	cd08528	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd05045	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd06630	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	83	cd08215	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd05578	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd06651	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	70	cd05614	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	70	cd05613	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	70	cd05583	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd07860	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	58	cd05608	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	58	cd05607	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	61	cd05577	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	177	cd00180	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	107	cd05572	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	58	cd05585	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	60	cd05579	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	99	cd05123	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	86	cd05101	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd08220	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	74	cd05108	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	79	cd07878	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	81	cd06656	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	80	cd06634	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	71	cd06645	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	81	cd06655	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	81	cd06647	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	108	cd05106	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	104	cd05104	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd05089	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	74	cd05036	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	105	cd05032	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	74	cd05062	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	101	cd05056	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	70	cd07858	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd05083	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd05082	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd05069	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd05072	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd05068	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd05039	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd05034	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd05073	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd05067	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd05148	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd05070	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	74	cd06644	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd05052	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd05071	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	74	cd05061	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	365	COG0515	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd07839	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd06617	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	159	cd07842	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd06610	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	85	cd06619	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd06621	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	84	cd06623	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd06605	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd06615	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	71	cd07832	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	117	cd05581	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	78	cd06609	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd08228	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd06625	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	63	cd08219	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd08229	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	114	cd05580	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd06622	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	86	cd05574	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd05612	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	73	cd05088	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd07844	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	73	cd07866	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	74	cd05109	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	74	cd05111	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	74	cd05110	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	75	cd06616	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	70	cd05065	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	70	cd05081	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	71	cd05079	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	70	cd05066	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	94	cd05033	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	75	cd05038	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	71	cd05080	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd05112	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd05114	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd05113	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd05059	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	80	cd06638	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	106	cd05055	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	133	cd05046	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	73	cd05050	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	84	cd05096	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	84	cd05097	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	73	cd05049	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	87	cd05095	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	106	cd05051	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd06643	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	73	cd05091	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	74	cd05048	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	72	cd05090	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd07872	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd06620	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	72	cd05063	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	71	cd05064	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	72	cd05092	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd06649	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	72	cd05093	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	72	cd05094	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd06611	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd06653	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd05630	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	88	cd05043	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd07847	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd06652	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd08216	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd08224	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	81	cd05076	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd07846	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	70	cd07863	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	83	cd06659	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	91	cd06639	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	80	cd06607	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd06626	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd07871	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd07873	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	71	cd07864	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	60	cd05571	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	61	cd05602	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	61	cd05590	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	61	cd05592	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	60	cd05595	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	60	cd05593	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	61	cd05047	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd05060	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd08217	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	61	cd05116	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	81	cd05037	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	116	cd00192	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd05078	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd05077	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	61	cd05591	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd05044	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	58	cd05084	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	60	cd05086	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	58	cd05085	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	60	cd05087	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	63	cd05042	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	59	cd05041	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd05040	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd05118	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	60	cd05594	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd07837	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	63	cd05570	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd05058	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	61	cd05619	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	63	cd05582	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	61	cd05603	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	70	cd07835	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	93	cd06614	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	77	cd07865	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	82	cd06654	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	81	cd06648	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	74	cd07856	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	91	cd07840	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	63	cd07831	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	86	cd07833	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd06637	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	93	cd06608	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	79	cd06618	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	70	cd06624	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	123	cd05057	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	76	cd05103	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	76	cd05054	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	76	cd05102	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	98	cd07830	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	100	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	219	smart00219	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	101	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd05589	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	297	smart00221	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	72	cd07838	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	76	cd05035	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd05075	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd05074	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	83	cd05099	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	83	cd05053	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	86	cd07851	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	86	cd06633	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	83	cd05100	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	106	cd05107	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	106	cd05105	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	89	cd05098	10862703,NP_066124
5979	547807	Disease	p.Leu790Phe	VAR_009482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009482	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	90	cd06635	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	74	cd06917	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd08221	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	61	cd05115	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	69	cd06650	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	76	cd06612	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	68	cd06640	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	72	cd07845	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	68	cd06642	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	68	cd06641	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	68	cd06613	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	201	smart00220	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	75	cd06632	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	68	cd06631	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	70	cd05584	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	66	cd05605	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	64	cd07836	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	80	cd07841	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	69	cd08529	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	95	cd07834	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd08225	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd08530	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd08218	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd08223	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	74	cd06628	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	66	cd05631	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	72	cd05587	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	69	cd08222	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	74	cd07829	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	82	cd05122	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	130	cd06606	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	74	cd06629	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	70	cd06627	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	66	cd07861	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	84	cd08528	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	69	cd05045	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	69	cd06630	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	84	cd08215	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	66	cd05578	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	70	cd06651	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	71	cd05614	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	71	cd05613	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	71	cd05583	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd07860	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	59	cd05608	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	59	cd05607	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	62	cd05577	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	178	cd00180	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	108	cd05572	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	59	cd05585	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	61	cd05579	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	100	cd05123	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd05101	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	67	cd08220	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	75	cd05108	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	80	cd07878	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	82	cd06656	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	81	cd06634	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	72	cd06645	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	82	cd06655	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	82	cd06647	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	109	cd05106	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	105	cd05104	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	69	cd05089	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	75	cd05036	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	106	cd05032	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	75	cd05062	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	102	cd05056	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	71	cd07858	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd05083	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd05082	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	67	cd05069	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	67	cd05072	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	67	cd05068	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	69	cd05039	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	67	cd05034	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	67	cd05073	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	67	cd05067	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	69	cd05148	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	67	cd05070	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	75	cd06644	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	68	cd05052	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	67	cd05071	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	75	cd05061	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	366	COG0515	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd07839	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	66	cd06617	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	160	cd07842	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	67	cd06610	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	86	cd06619	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	68	cd06621	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	85	cd06623	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	67	cd06605	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd06615	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	72	cd07832	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	118	cd05581	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	79	cd06609	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	68	cd08228	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	70	cd06625	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	64	cd08219	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	68	cd08229	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	115	cd05580	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd06622	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd05574	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	67	cd05612	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	74	cd05088	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	69	cd07844	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	73_G	cd07866	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	75	cd05109	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	75	cd05111	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	75	cd05110	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	76	cd06616	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	71	cd05065	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	71	cd05081	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	72	cd05079	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	71	cd05066	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	95	cd05033	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	76	cd05038	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	72	cd05080	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd05112	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd05114	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd05113	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd05059	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	81	cd06638	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	107	cd05055	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	134	cd05046	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	74	cd05050	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	85	cd05096	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	85	cd05097	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	74	cd05049	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	88	cd05095	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	107	cd05051	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	68	cd06643	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	74	cd05091	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	75	cd05048	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	73	cd05090	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	70	cd07872	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	69	cd06620	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	73	cd05063	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	72	cd05064	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	73	cd05092	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	69	cd06649	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	73	cd05093	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	73	cd05094	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	70	cd06611	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	70	cd06653	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	66	cd05630	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	89	cd05043	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	66	cd07847	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	70	cd06652	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	67	cd08216	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	69	cd08224	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	82	cd05076	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	67	cd07846	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	71	cd07863	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	84	cd06659	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	92	cd06639	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	81	cd06607	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	68	cd06626	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	69	cd07871	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	70	cd07873	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	72	cd07864	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	61	cd05571	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	62	cd05602	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	62	cd05590	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	62	cd05592	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	61	cd05595	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	61	cd05593	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	62	cd05047	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	67	cd05060	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd08217	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	62	cd05116	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	82	cd05037	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	117	cd00192	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd05078	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	70	cd05077	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	62	cd05591	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd05044	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	59	cd05084	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	61	cd05086	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	59	cd05085	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	61	cd05087	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	64	cd05042	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	60	cd05041	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	65	cd05040	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	68	cd05118	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	61	cd05594	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	67	cd07837	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	64	cd05570	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	69	cd05058	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	62	cd05619	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	64	cd05582	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	62	cd05603	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	71	cd07835	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	94	cd06614	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	78	cd07865	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	83	cd06654	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	82	cd06648	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	75	cd07856	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	92	cd07840	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	64	cd07831	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd07833	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	69	cd06637	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	94	cd06608	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	80	cd06618	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	71	cd06624	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	124	cd05057	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	77	cd05103	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	77	cd05054	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	77	cd05102	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	99	cd07830	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	101	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	220	smart00219	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	102	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	68	cd05589	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	298	smart00221	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	73	cd07838	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	77	cd05035	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	66	cd05075	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	67	cd05074	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	84	cd05099	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	84	cd05053	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd07851	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd06633	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	84	cd05100	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	107	cd05107	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	107	cd05105	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	90	cd05098	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	91	cd06635	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	74	cd06917	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd08221	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	61	cd05115	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd06650	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	76	cd06612	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd06640	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	72	cd07845	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd06642	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd06641	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd06613	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	201	smart00220	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	75	cd06632	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd06631	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	70	cd05584	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd05605	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd07836	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	80	cd07841	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd08529	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	95	cd07834	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd08225	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd08530	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd08218	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd08223	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	74	cd06628	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd05631	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	72	cd05587	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd08222	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	74	cd07829	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	82	cd05122	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	130	cd06606	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	74	cd06629	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	70	cd06627	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd07861	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	84	cd08528	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd05045	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd06630	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	84	cd08215	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd05578	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	70	cd06651	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	71	cd05614	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	71	cd05613	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	71	cd05583	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd07860	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	59	cd05608	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	59	cd05607	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	62	cd05577	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	178	cd00180	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	108	cd05572	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	59	cd05585	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	61	cd05579	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	100	cd05123	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	87	cd05101	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd08220	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	75	cd05108	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	80	cd07878	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	82	cd06656	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	81	cd06634	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	72	cd06645	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	82	cd06655	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	82	cd06647	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	109	cd05106	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	105	cd05104	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd05089	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	75	cd05036	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	106	cd05032	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	75	cd05062	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	102	cd05056	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	71	cd07858	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd05083	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd05082	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd05069	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd05072	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd05068	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd05039	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd05034	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd05073	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd05067	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd05148	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd05070	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	75	cd06644	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd05052	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd05071	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	75	cd05061	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	366	COG0515	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd07839	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd06617	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	160	cd07842	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd06610	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	86	cd06619	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd06621	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	85	cd06623	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd06605	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd06615	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	72	cd07832	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	118	cd05581	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	79	cd06609	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd08228	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	70	cd06625	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd08219	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd08229	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	115	cd05580	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd06622	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	87	cd05574	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd05612	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	74	cd05088	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd07844	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	73_G	cd07866	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	75	cd05109	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	75	cd05111	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	75	cd05110	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	76	cd06616	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	71	cd05065	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	71	cd05081	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	72	cd05079	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	71	cd05066	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	95	cd05033	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	76	cd05038	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	72	cd05080	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd05112	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd05114	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd05113	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd05059	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	81	cd06638	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	107	cd05055	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	134	cd05046	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	74	cd05050	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	85	cd05096	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	85	cd05097	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	74	cd05049	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	88	cd05095	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	107	cd05051	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd06643	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	74	cd05091	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	75	cd05048	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	73	cd05090	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	70	cd07872	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd06620	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	73	cd05063	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	72	cd05064	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	73	cd05092	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd06649	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	73	cd05093	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	73	cd05094	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	70	cd06611	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	70	cd06653	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd05630	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	89	cd05043	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd07847	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	70	cd06652	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd08216	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd08224	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	82	cd05076	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd07846	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	71	cd07863	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	84	cd06659	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	92	cd06639	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	81	cd06607	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd06626	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd07871	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	70	cd07873	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	72	cd07864	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	61	cd05571	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	62	cd05602	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	62	cd05590	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	62	cd05592	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	61	cd05595	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	61	cd05593	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	62	cd05047	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd05060	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd08217	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	62	cd05116	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	82	cd05037	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	117	cd00192	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd05078	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	70	cd05077	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	62	cd05591	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd05044	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	59	cd05084	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	61	cd05086	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	59	cd05085	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	61	cd05087	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd05042	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	60	cd05041	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	65	cd05040	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd05118	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	61	cd05594	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd07837	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd05570	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd05058	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	62	cd05619	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd05582	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	62	cd05603	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	71	cd07835	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	94	cd06614	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	78	cd07865	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	83	cd06654	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	82	cd06648	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	75	cd07856	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	92	cd07840	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	64	cd07831	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	87	cd07833	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	69	cd06637	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	94	cd06608	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	80	cd06618	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	71	cd06624	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	124	cd05057	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	77	cd05103	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	77	cd05054	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	77	cd05102	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	99	cd07830	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	101	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	220	smart00219	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	102	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	68	cd05589	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	298	smart00221	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	73	cd07838	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	77	cd05035	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	66	cd05075	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	67	cd05074	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	84	cd05099	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	84	cd05053	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	87	cd07851	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	87	cd06633	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	84	cd05100	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	107	cd05107	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	107	cd05105	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	90	cd05098	10862703,NP_066124
5979	547807	Disease	p.Tyr791Phe	VAR_009483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009483	- Multiple neoplasia type 2A (MEN2A) [MIM:171400]	SWISS	91	cd06635	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	96	cd06917	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd08221	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	82	cd05115	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	91	cd06650	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	99	cd06612	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	90	cd06640	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	95	cd07845	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	90	cd06642	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	82_G	cd06641	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	90	cd06613	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	316	smart00220	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	107	cd06632	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	92	cd06631	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	91_G	cd05584	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	88	cd05605	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	86	cd07836	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	103	cd07841	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	92	cd08529	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	130	cd07834	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd08225	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	90	cd08530	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd08218	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	88	cd08223	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	96	cd06628	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	88	cd05631	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	93_G	cd05587	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	91	cd08222	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	114	cd07829	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	112	cd05122	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd06606	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	96	cd06629	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	93	cd06627	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd07861	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	106	cd08528	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	91	cd05045	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	91	cd06630	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	114	cd08215	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	88	cd05578	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	94	cd06651	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	93	cd05614	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	93	cd05613	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	93	cd05583	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	86	cd07860	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	81	cd05608	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	81	cd05607	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	84	cd05577	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	286	cd00180	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	130	cd05572	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	81	cd05585	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	83	cd05579	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	124	cd05123	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	109	cd05101	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	89	cd08220	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	96	cd05108	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	102	cd07878	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	104	cd06656	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	102	cd06634	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	94	cd06645	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	104	cd06655	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	104	cd06647	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	131	cd05106	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	127	cd05104	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	91	cd05089	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	97	cd05036	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	130	cd05032	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	97	cd05062	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	123	cd05056	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	93	cd07858	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	86	cd05083	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	88	cd05082	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	88	cd05069	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	89	cd05072	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	89	cd05068	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	92	cd05039	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	89	cd05034	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	89	cd05073	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	88	cd05067	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	91	cd05148	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	88	cd05070	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	97	cd06644	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	90	cd05052	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	88	cd05071	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	97	cd05061	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	436	COG0515	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	86	cd07839	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd06617	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	186	cd07842	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	89	cd06610	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	108	cd06619	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	92	cd06621	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	112	cd06623	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	92	cd06605	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd06615	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	100	cd07832	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	140	cd05581	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	103	cd06609	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	90	cd08228	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	94	cd06625	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	86	cd08219	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	90	cd08229	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	137	cd05580	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd06622	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	109	cd05574	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	89	cd05612	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	96	cd05088	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	90	cd07844	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd07866	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	96	cd05109	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	96	cd05111	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	96	cd05110	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	97	cd06616	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	93	cd05065	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	95	cd05081	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	96	cd05079	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	93	cd05066	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	117	cd05033	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	106	cd05038	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	96	cd05080	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd05112	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd05114	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd05113	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd05059	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	108	cd06638	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	129	cd05055	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	156	cd05046	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	96	cd05050	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	107	cd05096	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	107	cd05097	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	98	cd05049	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	110	cd05095	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	130	cd05051	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	90	cd06643	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	96	cd05091	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	97	cd05048	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	95	cd05090	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd07872	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	93	cd06620	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	95	cd05063	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	94	cd05064	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	95	cd05092	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	91	cd06649	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	95	cd05093	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	95	cd05094	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	92	cd06611	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	94	cd06653	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	88	cd05630	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	121	cd05043	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	88	cd07847	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	100	cd06652	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	89	cd08216	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	91	cd08224	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	104	cd05076	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	85	cd07846	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	97	cd07863	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	106	cd06659	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	119	cd06639	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	102	cd06607	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	90	cd06626	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	86	cd07871	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd07873	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	104	cd07864	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	83	cd05571	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	84	cd05602	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	84	cd05590	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	84	cd05592	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	82_G	cd05595	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	82_G	cd05593	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	84	cd05047	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	88	cd05060	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	89	cd08217	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	83	cd05116	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	104	cd05037	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd00192	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd05078	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	92	cd05077	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	84	cd05591	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd05044	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	81	cd05084	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	83	cd05086	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	81	cd05085	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	83	cd05087	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	86	cd05042	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	82	cd05041	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	88	cd05040	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	95	cd05118	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	82_G	cd05594	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	100	cd07837	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	86	cd05570	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	92	cd05058	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	84	cd05619	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	85_G	cd05582	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	83_G	cd05603	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	93	cd07835	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	118	cd06614	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	111	cd07865	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	105	cd06654	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	104	cd06648	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	97	cd07856	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	130	cd07840	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	87	cd07831	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	104_G	cd07833	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	97	cd06637	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	127	cd06608	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	101	cd06618	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	98	cd06624	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146	cd05057	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	100	cd05103	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	100	cd05054	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	100	cd05102	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	128	cd07830	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	142	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	253	smart00219	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	149	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	89_G	cd05589	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	383	smart00221	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	111	cd07838	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	105	cd05035	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	94	cd05075	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	95	cd05074	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	106	cd05099	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	106	cd05053	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	117	cd07851	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	108	cd06633	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	106	cd05100	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	129	cd05107	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	129	cd05105	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	112	cd05098	10862703,NP_066124
5979	547807	Disease	p.Arg813Gln	VAR_009484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009484	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	112	cd06635	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	134	cd06917	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	126	cd08221	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	119	cd05115	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	128	cd06650	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	139	cd06612	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	125	cd06640	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	145	cd07845	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	125	cd06642	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	125	cd06641	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	127	cd06613	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	426	smart00220	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	143	cd06632	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	128	cd06631	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	128	cd05584	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	126	cd05605	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	127	cd07836	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	141	cd07841	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	130	cd08529	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd07834	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	125	cd08225	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	130	cd08530	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	125	cd08218	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	126	cd08223	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	132	cd06628	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	126	cd05631	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	130	cd05587	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	131	cd08222	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	164	cd07829	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	158	cd05122	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	205	cd06606	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	134	cd06629	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	131	cd06627	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	126	cd07861	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	147	cd08528	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	151	cd05045	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	127	cd06630	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd08215	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	125	cd05578	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	130	cd06651	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	129	cd05614	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	142	cd05613	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	129	cd05583	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	124	cd07860	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	121	cd05608	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	119	cd05607	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	124	cd05577	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	365	cd00180	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	192	cd05572	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	117	cd05585	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	120	cd05579	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	640	cd05123	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	161	cd05101	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	134	cd08220	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	133	cd05108	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	142	cd07878	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	139	cd06656	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	139	cd06634	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	130	cd06645	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	139	cd06655	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	139	cd06647	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	246	cd05106	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	248	cd05104	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	143	cd05089	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	142	cd05036	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	188	cd05032	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	143	cd05062	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	160	cd05056	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	133	cd07858	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	124	cd05083	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	126	cd05082	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	126	cd05069	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	127	cd05072	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	129	cd05068	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	130	cd05039	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	127	cd05034	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	127	cd05073	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	126	cd05067	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	129	cd05148	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	126	cd05070	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	134	cd06644	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	128	cd05052	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	126	cd05071	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	144	cd05061	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	556	COG0515	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	123	cd07839	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	129	cd06617	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	228	cd07842	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	136	cd06610	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	140	cd06619	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	134	cd06621	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd06623	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	142	cd06605	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	126	cd06615	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	139	cd07832	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	240	cd05581	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	147	cd06609	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	130	cd08228	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	130	cd06625	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	124	cd08219	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	130	cd08229	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	178	cd05580	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	139	cd06622	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	147	cd05574	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	125	cd05612	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd05088	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	128	cd07844	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	155	cd07866	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	133	cd05109	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	133	cd05111	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	133	cd05110	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	139	cd06616	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	130	cd05065	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	132	cd05081	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	133	cd05079	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	130	cd05066	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	162	cd05033	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	152	cd05038	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	131	cd05080	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	124	cd05112	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	124	cd05114	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	125	cd05113	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	126	cd05059	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd06638	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	263	cd05055	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	210	cd05046	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	157	cd05050	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	180	cd05096	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	155	cd05097	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	151	cd05049	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	165	cd05095	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	185	cd05051	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	127	cd06643	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd05091	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	151	cd05048	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd05090	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	128	cd07872	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	130	cd06620	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	132	cd05063	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	131	cd05064	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146	cd05092	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	128	cd06649	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	144	cd05093	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	147	cd05094	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	129	cd06611	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	130	cd06653	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	126	cd05630	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd05043	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	130	cd07847	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd06652	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	127	cd08216	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	131	cd08224	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	141	cd05076	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	125	cd07846	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	135	cd07863	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	141	cd06659	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd06639	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	139	cd06607	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	126	cd06626	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	127	cd07871	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	128	cd07873	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	142	cd07864	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	120	cd05571	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	120	cd05602	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	120	cd05590	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	135	cd05592	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	119	cd05595	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	119	cd05593	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	136	cd05047	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	126	cd05060	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	156	cd08217	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	119	cd05116	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	143	cd05037	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	333	cd00192	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	126	cd05078	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	129	cd05077	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	120	cd05591	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	134	cd05044	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	118	cd05084	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	124	cd05086	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	118	cd05085	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	129	cd05087	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	127	cd05042	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	120	cd05041	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	128	cd05040	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	133	cd05118	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	120	cd05594	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	142	cd07837	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	122	cd05570	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	129	cd05058	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	120	cd05619	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	122	cd05582	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	120	cd05603	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd07835	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	176	cd06614	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd07865	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	140	cd06654	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	140	cd06648	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	132	cd07856	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	173	cd07840	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	125	cd07831	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146	cd07833	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	135	cd06637	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd06608	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	143	cd06618	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	137	cd06624	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	186	cd05057	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	204	cd05103	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	252	cd05054	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	202	cd05102	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	176	cd07830	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	280	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	421	smart00219	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	215	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	125	cd05589	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	536	smart00221	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd07838	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	147	cd05035	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	151	cd05075	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	137	cd05074	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	158	cd05099	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	174	cd05053	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	158	cd07851	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	145	cd06633	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	158	cd05100	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	266	cd05107	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	264	cd05105	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	164	cd05098	10862703,NP_066124
5979	547807	Disease	p.Arg873Gln	VAR_006338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006338	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	149	cd06635	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	144	cd06917	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	136	cd08221	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	129	cd05115	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	138	cd06650	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	149	cd06612	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	135	cd06640	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	155	cd07845	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	135	cd06642	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	135	cd06641	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	137	cd06613	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	444	smart00220	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	153	cd06632	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	138	cd06631	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	138	cd05584	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	136	cd05605	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	137	cd07836	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	151	cd07841	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	140	cd08529	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	177	cd07834	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	136	cd08225	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	140	cd08530	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	135	cd08218	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	136	cd08223	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	142	cd06628	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	136	cd05631	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	140	cd05587	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	141	cd08222	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	174	cd07829	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	168	cd05122	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	215	cd06606	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	144	cd06629	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	141	cd06627	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	136	cd07861	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	157	cd08528	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	161	cd05045	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	138	cd06630	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	177	cd08215	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	135	cd05578	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	140	cd06651	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	139	cd05614	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	152	cd05613	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	139	cd05583	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	134	cd07860	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	131	cd05608	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	129	cd05607	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	134	cd05577	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	375	cd00180	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	202	cd05572	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	127	cd05585	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	130	cd05579	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	650	cd05123	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	171	cd05101	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	144	cd08220	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	143	cd05108	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	152	cd07878	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	149	cd06656	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	149	cd06634	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	140	cd06645	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	149	cd06655	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	149	cd06647	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	256	cd05106	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	258	cd05104	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	153	cd05089	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	152	cd05036	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	198	cd05032	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	153	cd05062	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	170	cd05056	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	143	cd07858	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	134	cd05083	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	136	cd05082	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	136	cd05069	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	137	cd05072	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	139	cd05068	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	140	cd05039	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	137	cd05034	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	137	cd05073	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	136	cd05067	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	139	cd05148	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	136	cd05070	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	144	cd06644	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	138	cd05052	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	136	cd05071	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	154	cd05061	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	591	COG0515	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	133	cd07839	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	139	cd06617	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	238	cd07842	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	146	cd06610	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	150	cd06619	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	144	cd06621	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	182	cd06623	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	152	cd06605	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	136	cd06615	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	149	cd07832	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	250	cd05581	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	157	cd06609	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	140	cd08228	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	140	cd06625	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	134	cd08219	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	140	cd08229	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	188	cd05580	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	149	cd06622	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	157	cd05574	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	135	cd05612	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	158	cd05088	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	138	cd07844	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	165	cd07866	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	143	cd05109	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	143	cd05111	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	143	cd05110	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	149	cd06616	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	140	cd05065	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	142	cd05081	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	143	cd05079	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	140	cd05066	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	172	cd05033	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	162	cd05038	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	141	cd05080	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	134	cd05112	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	134	cd05114	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	135	cd05113	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	136	cd05059	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	158	cd06638	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	273	cd05055	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	220	cd05046	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	167	cd05050	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	190	cd05096	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	165	cd05097	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	160_G	cd05049	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	175	cd05095	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	195	cd05051	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	137	cd06643	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	158	cd05091	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	161	cd05048	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	158	cd05090	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	138	cd07872	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	140	cd06620	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	142	cd05063	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	141	cd05064	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	156	cd05092	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	138	cd06649	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	154	cd05093	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	157	cd05094	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	139	cd06611	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	140	cd06653	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	136	cd05630	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	176	cd05043	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	140	cd07847	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	164	cd06652	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	137	cd08216	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	141	cd08224	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	151	cd05076	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	135	cd07846	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	145	cd07863	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	151	cd06659	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	169	cd06639	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	149	cd06607	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	136	cd06626	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	137	cd07871	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	138	cd07873	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	152	cd07864	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	130	cd05571	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	130	cd05602	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	130	cd05590	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	145	cd05592	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	129	cd05595	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	129	cd05593	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	146	cd05047	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	136	cd05060	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	166	cd08217	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	129	cd05116	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	153	cd05037	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	343	cd00192	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	136	cd05078	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	139	cd05077	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	130	cd05591	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	144	cd05044	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	128	cd05084	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	134	cd05086	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	128	cd05085	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	139	cd05087	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	137	cd05042	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	130	cd05041	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	138	cd05040	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	143	cd05118	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	130	cd05594	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	152	cd07837	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	133	cd05570	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	139	cd05058	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	130	cd05619	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	132	cd05582	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	130	cd05603	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	160	cd07835	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	186	cd06614	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	158	cd07865	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	150	cd06654	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	150	cd06648	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	142	cd07856	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	183	cd07840	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	135	cd07831	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	156	cd07833	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	145	cd06637	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	177	cd06608	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	153	cd06618	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	147	cd06624	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	196	cd05057	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	214	cd05103	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	262	cd05054	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	212	cd05102	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	186	cd07830	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	290	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	439	smart00219	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	225	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	135	cd05589	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	553	smart00221	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	160	cd07838	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	157	cd05035	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	161	cd05075	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	147	cd05074	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	168	cd05099	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	184	cd05053	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	168	cd07851	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	155	cd06633	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	168	cd05100	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	276	cd05107	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	274	cd05105	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	174	cd05098	10862703,NP_066124
5979	547807	Disease	p.Ala883Phe	VAR_009485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009485	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	159	cd06635	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	155	cd06917	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146	cd08221	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	139	cd05115	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd06650	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd06612	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	145	cd06640	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	165	cd07845	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	145	cd06642	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	145	cd06641	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	147	cd06613	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	529	smart00220	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd06632	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd06631	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd05584	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146	cd05605	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	147	cd07836	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	161	cd07841	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd08529	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	190	cd07834	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146	cd08225	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd08530	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	145	cd08218	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146	cd08223	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	152	cd06628	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146	cd05631	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd05587	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd08222	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	194	cd07829	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	179	cd05122	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	234	cd06606	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd06629	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd06627	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146	cd07861	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd08528	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd05045	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd06630	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	204	cd08215	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	145	cd05578	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd06651	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	149	cd05614	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	162	cd05613	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	149	cd05583	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	144	cd07860	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	141	cd05608	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	139	cd05607	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	144	cd05577	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	444	cd00180	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	212	cd05572	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	137	cd05585	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	140	cd05579	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	660	cd05123	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	181	cd05101	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	155	cd08220	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd05108	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	162	cd07878	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd06656	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd06634	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd06645	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd06655	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd06647	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	266	cd05106	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	268	cd05104	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd05089	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	165	cd05036	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	208	cd05032	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd05062	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	180	cd05056	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd07858	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	144	cd05083	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146	cd05082	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146	cd05069	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	147	cd05072	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	149	cd05068	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd05039	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	151	cd05034	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	147	cd05073	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146	cd05067	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	149	cd05148	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146	cd05070	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd06644	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd05052	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146	cd05071	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	164	cd05061	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	664	COG0515	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	143	cd07839	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	149	cd06617	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	254	cd07842	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	156	cd06610	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	160	cd06619	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd06621	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	193	cd06623	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd06605	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146	cd06615	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	164	cd07832	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	260	cd05581	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	168	cd06609	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd08228	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd06625	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	144	cd08219	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd08229	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	198	cd05580	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	160	cd06622	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd05574	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	145	cd05612	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	168	cd05088	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd07844	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	175	cd07866	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd05109	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd05111	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd05110	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd06616	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd05065	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	152	cd05081	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd05079	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd05066	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	182	cd05033	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	176	cd05038	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	151	cd05080	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	144	cd05112	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	144	cd05114	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	145	cd05113	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146	cd05059	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	168	cd06638	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	283	cd05055	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	230	cd05046	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	177	cd05050	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	211	cd05096	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	175	cd05097	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	176	cd05049	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	185	cd05095	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	209	cd05051	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	147	cd06643	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	168	cd05091	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd05048	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	168	cd05090	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd07872	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd06620	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	152	cd05063	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	151	cd05064	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd05092	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd06649	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	164	cd05093	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd05094	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	149	cd06611	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd06653	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146	cd05630	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	189	cd05043	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd07847	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	174	cd06652	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	147	cd08216	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	151	cd08224	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	168	cd05076	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	145	cd07846	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	155	cd07863	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	161	cd06659	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	179	cd06639	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd06607	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	147	cd06626	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	147	cd07871	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd07873	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	162	cd07864	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	140	cd05571	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	140	cd05602	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	140	cd05590	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	155	cd05592	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	139	cd05595	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	139	cd05593	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	156	cd05047	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146	cd05060	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	215	cd08217	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	139	cd05116	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd05037	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	364	cd00192	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd05078	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	156	cd05077	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	140	cd05591	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	161	cd05044	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	138	cd05084	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	144	cd05086	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	138	cd05085	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	149	cd05087	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	147	cd05042	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	140	cd05041	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	152	cd05040	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd05118	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	140	cd05594	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd07837	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	142	cd05570	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	149	cd05058	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	140	cd05619	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	142	cd05582	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	140	cd05603	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd07835	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	196	cd06614	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	168	cd07865	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	160	cd06654	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	160	cd06648	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	152	cd07856	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	194	cd07840	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	151	cd07831	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd07833	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	155	cd06637	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	187	cd06608	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd06618	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	158	cd06624	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	206	cd05057	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	224	cd05103	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	272	cd05054	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	222	cd05102	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	220	cd07830	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	319	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	457	smart00219	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	255	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	145	cd05589	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	622	smart00221	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd07838	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd05035	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd05075	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	157	cd05074	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	178	cd05099	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	194	cd05053	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	178	cd07851	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	165	cd06633	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	178	cd05100	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	286	cd05107	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	284	cd05105	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	184	cd05098	10862703,NP_066124
5979	547807	Disease	p.Phe893Leu	VAR_006339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006339	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	169	cd06635	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	156	cd06917	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	147	cd08221	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	140	cd05115	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	149	cd06650	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	160	cd06612	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	146	cd06640	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	166	cd07845	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	146	cd06642	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	146	cd06641	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	148	cd06613	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	530	smart00220	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	164	cd06632	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	149	cd06631	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	149	cd05584	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	147	cd05605	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	148	cd07836	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	162	cd07841	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	151	cd08529	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	191	cd07834	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	147	cd08225	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	154	cd08530	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	146	cd08218	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	147	cd08223	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	153	cd06628	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	147	cd05631	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	151	cd05587	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	151	cd08222	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	195	cd07829	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	180	cd05122	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	235	cd06606	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	155	cd06629	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	155	cd06627	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	147	cd07861	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	168	cd08528	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	172	cd05045	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	149	cd06630	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	205	cd08215	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	146	cd05578	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	151	cd06651	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	150	cd05614	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	163	cd05613	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	150	cd05583	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	145	cd07860	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	142	cd05608	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	140	cd05607	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	145	cd05577	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	445	cd00180	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	213	cd05572	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	138	cd05585	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	141	cd05579	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	661	cd05123	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	182	cd05101	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	156	cd08220	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	154	cd05108	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	163	cd07878	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	160	cd06656	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	160	cd06634	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	151	cd06645	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	160	cd06655	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	160	cd06647	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	267	cd05106	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	269	cd05104	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	164	cd05089	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	166	cd05036	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	209	cd05032	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	164	cd05062	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	181	cd05056	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	154	cd07858	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	145	cd05083	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	147	cd05082	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	147	cd05069	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	148	cd05072	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	150	cd05068	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	151	cd05039	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	152	cd05034	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	148	cd05073	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	147	cd05067	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	150	cd05148	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	147	cd05070	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	155	cd06644	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	149	cd05052	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	147	cd05071	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	165	cd05061	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	665	COG0515	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	144	cd07839	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	150	cd06617	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	255	cd07842	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	157	cd06610	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	161	cd06619	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	155	cd06621	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	194	cd06623	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	164	cd06605	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	147	cd06615	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	165	cd07832	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	261	cd05581	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	169	cd06609	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	151	cd08228	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	151	cd06625	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	145	cd08219	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	151	cd08229	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	199	cd05580	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	161	cd06622	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	168	cd05574	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	146	cd05612	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	169	cd05088	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	149	cd07844	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	176	cd07866	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	154	cd05109	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	154	cd05111	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	154	cd05110	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	160	cd06616	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	151	cd05065	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	153	cd05081	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	154	cd05079	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	151	cd05066	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	183	cd05033	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	177	cd05038	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	152	cd05080	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	145	cd05112	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	145	cd05114	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	146	cd05113	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	147	cd05059	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	169	cd06638	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	284	cd05055	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	231	cd05046	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	178	cd05050	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	212	cd05096	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	176	cd05097	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	177	cd05049	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	186	cd05095	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	210	cd05051	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	148	cd06643	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	169	cd05091	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	172	cd05048	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	169	cd05090	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	149	cd07872	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	151	cd06620	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	153	cd05063	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	152	cd05064	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	167	cd05092	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	149	cd06649	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	165	cd05093	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	168	cd05094	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	150	cd06611	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	151	cd06653	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	147	cd05630	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	190	cd05043	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	151	cd07847	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	175	cd06652	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	148	cd08216	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	152	cd08224	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	169	cd05076	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	146	cd07846	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	156	cd07863	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	162	cd06659	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	180	cd06639	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	160	cd06607	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	148	cd06626	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	148	cd07871	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	149	cd07873	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	163	cd07864	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	141	cd05571	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	141	cd05602	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	141	cd05590	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	156	cd05592	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	140	cd05595	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	140	cd05593	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	157	cd05047	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	147	cd05060	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	216	cd08217	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	140	cd05116	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	172	cd05037	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	365	cd00192	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	155	cd05078	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	157	cd05077	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	141	cd05591	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	162	cd05044	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	139	cd05084	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	145	cd05086	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	139	cd05085	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	150	cd05087	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	148	cd05042	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	141	cd05041	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	153	cd05040	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	154	cd05118	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	141	cd05594	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	164	cd07837	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	143	cd05570	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	150	cd05058	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	141	cd05619	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	143	cd05582	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	141	cd05603	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	172	cd07835	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	197	cd06614	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	169	cd07865	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	161	cd06654	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	161	cd06648	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	153	cd07856	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	195	cd07840	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	152	cd07831	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	172	cd07833	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	156	cd06637	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	188	cd06608	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	164	cd06618	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	159	cd06624	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	207	cd05057	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	225	cd05103	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	273	cd05054	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	223	cd05102	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	221	cd07830	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	320	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	458	smart00219	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	256	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	146	cd05589	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	623	smart00221	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	172	cd07838	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	168	cd05035	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	172	cd05075	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	158	cd05074	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	179	cd05099	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	195	cd05053	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	179	cd07851	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	166	cd06633	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	179	cd05100	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	287	cd05107	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	285	cd05105	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	185	cd05098	10862703,NP_066124
5979	547807	Disease	p.Gly894Ser	VAR_044396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044396	- Renal adysplasia [MIM:191830]	SWISS	170	cd06635	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd06917	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd08221	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	143	cd05115	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	152	cd06650	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd06612	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	149	cd06640	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	169	cd07845	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	149	cd06642	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	149	cd06641	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	151	cd06613	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	534	smart00220	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd06632	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	152	cd06631	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	152	cd05584	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd05605	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	151	cd07836	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	165	cd07841	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd08529	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	194	cd07834	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd08225	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	157	cd08530	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	149	cd08218	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd08223	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	156	cd06628	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd05631	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd05587	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd08222	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	198	cd07829	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	183	cd05122	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd06606	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	158	cd06629	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	158	cd06627	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd07861	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd08528	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	175	cd05045	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	152	cd06630	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	208	cd08215	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	149	cd05578	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd06651	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd05614	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd05613	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd05583	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd07860	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	145	cd05608	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	143	cd05607	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd05577	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	448	cd00180	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	216	cd05572	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	141	cd05585	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	144	cd05579	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	664	cd05123	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	185	cd05101	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd08220	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	157	cd05108	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd07878	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd06656	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd06634	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd06645	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd06655	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd06647	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	270	cd05106	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	272	cd05104	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd05089	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	169	cd05036	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	212	cd05032	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd05062	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	184	cd05056	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	157	cd07858	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd05083	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd05082	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd05069	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	151	cd05072	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd05068	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd05039	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	155	cd05034	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	151	cd05073	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd05067	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd05148	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd05070	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	162	cd06644	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	152	cd05052	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd05071	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	168	cd05061	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	668	COG0515	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146_G	cd07839	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd06617	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	258	cd07842	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	160	cd06610	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	164	cd06619	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	158	cd06621	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	197	cd06623	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd06605	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd06615	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	168	cd07832	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	264	cd05581	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171_G	cd06609	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd08228	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd06625	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd08219	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd08229	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	202	cd05580	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	164	cd06622	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd05574	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	149	cd05612	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd05088	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	152	cd07844	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	179	cd07866	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	157	cd05109	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	157	cd05111	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	157	cd05110	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	162_G	cd06616	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd05065	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	156	cd05081	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	157	cd05079	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd05066	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	186	cd05033	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	180	cd05038	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	155	cd05080	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd05112	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd05114	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	149	cd05113	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd05059	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd06638	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	287	cd05055	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	234	cd05046	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	181	cd05050	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	215	cd05096	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	179	cd05097	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	180	cd05049	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	189	cd05095	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	213	cd05051	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	155	cd06643	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd05091	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	175	cd05048	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd05090	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	152	cd07872	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd06620	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	156	cd05063	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	155	cd05064	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	170	cd05092	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	152	cd06649	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	168	cd05093	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd05094	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd06611	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd06653	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd05630	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	193	cd05043	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd07847	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	178	cd06652	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	151	cd08216	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	155	cd08224	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd05076	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	149	cd07846	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd07863	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	165	cd06659	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	183	cd06639	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd06607	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	151	cd06626	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	151	cd07871	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	152	cd07873	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd07864	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	144	cd05571	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	144	cd05602	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	144	cd05590	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd05592	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	143	cd05595	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	143	cd05593	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	160	cd05047	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd05060	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	219	cd08217	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	143	cd05116	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	175	cd05037	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	368	cd00192	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	158	cd05078	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	160	cd05077	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	144	cd05591	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	165	cd05044	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	142	cd05084	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	148	cd05086	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	142	cd05085	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd05087	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	151	cd05042	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	144	cd05041	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	156	cd05040	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	157	cd05118	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	144	cd05594	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd07837	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146	cd05570	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd05058	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	144	cd05619	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146	cd05582	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	144	cd05603	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	175	cd07835	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	200	cd06614	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd07865	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	164	cd06654	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	168	cd06648	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	156	cd07856	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	198	cd07840	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	155	cd07831	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	175	cd07833	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd06637	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	191	cd06608	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	168	cd06618	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	162	cd06624	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	210	cd05057	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	228	cd05103	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	276	cd05054	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	226	cd05102	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	224	cd07830	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	323	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	461	smart00219	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	259	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	149	cd05589	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	626	smart00221	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	175	cd07838	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd05035	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	175	cd05075	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	161	cd05074	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	182	cd05099	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	198	cd05053	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	182	cd07851	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	169	cd06633	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	182	cd05100	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	290	cd05107	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	288	cd05105	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	188	cd05098	10862703,NP_066124
5979	547807	Disease	p.Arg897Gln	VAR_006340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006340	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	173	cd06635	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	169	cd06917	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	162	cd08221	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd05115	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	160	cd06650	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd06612	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	157	cd06640	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	178	cd07845	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	157	cd06642	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	157	cd06641	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd06613	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	610	smart00220	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	179	cd06632	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	162	cd06631	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	162	cd05584	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	156_G	cd05605	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd07836	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	175	cd07841	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	164	cd08529	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	207	cd07834	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	160	cd08225	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd08530	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	158	cd08218	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd08223	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd06628	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	156_G	cd05631	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	164	cd05587	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	164	cd08222	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	200_G	cd07829	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	195	cd05122	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	274	cd06606	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd06629	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	201	cd06627	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	157	cd07861	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	181	cd08528	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	185	cd05045	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd06630	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	226	cd08215	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	165	cd05578	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd06651	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd05614	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	177	cd05613	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	164	cd05583	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd07860	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	155	cd05608	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd05607	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	158	cd05577	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	616	cd00180	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	219	cd05572	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	151	cd05585	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	690	cd05579	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	713	cd05123	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	195	cd05101	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd08220	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd05108	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171_G	cd07878	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd06656	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172_G	cd06634	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	162	cd06645	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd06655	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd06647	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	280	cd05106	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	282	cd05104	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	174	cd05089	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	180	cd05036	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	222	cd05032	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	177	cd05062	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	194	cd05056	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd07858	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	155	cd05083	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	155	cd05082	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd05069	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	160	cd05072	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	165	cd05068	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	165_G	cd05039	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd05034	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	160	cd05073	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd05067	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	162	cd05148	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd05070	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd06644	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	161	cd05052	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd05071	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	178	cd05061	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	793	COG0515	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	146_G	cd07839	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	161	cd06617	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	262_G	cd07842	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	170	cd06610	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd06619	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	175_G	cd06621	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	205	cd06623	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	175	cd06605	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd06615	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	181	cd07832	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	383	cd05581	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	175	cd06609	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd08228	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	164	cd06625	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	158	cd08219	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd08229	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	216	cd05580	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd06622	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	181	cd05574	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	158_G	cd05612	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	179	cd05088	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	161_G	cd07844	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	188	cd07866	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd05109	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd05111	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd05110	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd06616	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd05065	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd05081	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd05079	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd05066	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	201	cd05033	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	191	cd05038	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	165	cd05080	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	157	cd05112	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	157	cd05114	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	158	cd05113	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	158_G	cd05059	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	182	cd06638	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	297	cd05055	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	243	cd05046	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	191	cd05050	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	223_G	cd05096	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	187_G	cd05097	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	188_G	cd05049	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	197_G	cd05095	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	221_G	cd05051	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	165	cd06643	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	182	cd05091	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	185	cd05048	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	182	cd05090	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd07872	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd06620	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd05063	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	165	cd05064	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	180	cd05092	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	160	cd06649	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	178	cd05093	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	181	cd05094	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	161	cd06611	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd06653	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	158_G	cd05630	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	200_G	cd05043	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd07847	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	191	cd06652	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd08216	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	164	cd08224	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	182	cd05076	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163_G	cd07846	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	165	cd07863	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	174	cd06659	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	193	cd06639	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172_G	cd06607	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	160	cd06626	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	158	cd07871	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	161_G	cd07873	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	175	cd07864	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd05571	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd05602	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd05590	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	169	cd05592	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd05595	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd05593	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd05047	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	160	cd05060	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	237_G	cd08217	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	153	cd05116	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	187	cd05037	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	387	cd00192	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	168	cd05078	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	170	cd05077	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd05591	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	175	cd05044	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	150	cd05084	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	158	cd05086	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	149	cd05085	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd05087	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	161	cd05042	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	152	cd05041	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd05040	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd05118	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd05594	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	174	cd07837	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	156	cd05570	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd05058	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd05619	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	156	cd05582	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	154	cd05603	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	182	cd07835	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	219_G	cd06614	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	185	cd07865	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd06654	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	177_G	cd06648	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd07856	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	202	cd07840	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	165	cd07831	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	222	cd07833	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd06637	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	198	cd06608	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	175	cd06618	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd06624	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	221	cd05057	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd05103	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	286	cd05054	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	236	cd05102	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	248	cd07830	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	336	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	528	smart00219	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	285	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd05589	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	695	smart00221	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	188	cd07838	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	181	cd05035	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	185	cd05075	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd05074	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	192	cd05099	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	208	cd05053	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	191_G	cd07851	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	178_G	cd06633	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	192	cd05100	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	300	cd05107	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	298	cd05105	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	198	cd05098	10862703,NP_066124
5979	547807	Disease	p.Lys907Glu	VAR_006341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006341	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	182_G	cd06635	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	180	cd06917	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	171	cd08221	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	165	cd05115	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	169	cd06650	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	183	cd06612	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	168	cd06640	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	189	cd07845	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	168	cd06642	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	168	cd06641	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	170	cd06613	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	707	smart00220	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	189	cd06632	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	177	cd06631	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	171	cd05584	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	168	cd05605	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	170	cd07836	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	199	cd07841	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	173	cd08529	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	243	cd07834	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	169	cd08225	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	175	cd08530	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	168	cd08218	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	169	cd08223	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	183	cd06628	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	168	cd05631	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	173	cd05587	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	173	cd08222	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	211	cd07829	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	207	cd05122	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	283	cd06606	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	180	cd06629	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	210	cd06627	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	168	cd07861	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	190	cd08528	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	196	cd05045	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	176	cd06630	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	235	cd08215	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	173	cd05578	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	176	cd06651	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	173	cd05614	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	188	cd05613	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	174	cd05583	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	167	cd07860	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	164	cd05608	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	161	cd05607	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	167	cd05577	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	627	cd00180	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	238	cd05572	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	160	cd05585	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	701	cd05579	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	736	cd05123	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	206	cd05101	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	177	cd08220	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	178	cd05108	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	181	cd07878	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	182	cd06656	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	178	cd06634	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	173	cd06645	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	182	cd06655	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	182	cd06647	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	291	cd05106	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	293	cd05104	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	185	cd05089	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	191	cd05036	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	233	cd05032	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	188	cd05062	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	206	cd05056	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	178	cd07858	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	164	cd05083	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	166	cd05082	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	170	cd05069	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	171	cd05072	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	176	cd05068	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	173	cd05039	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	181	cd05034	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	171	cd05073	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	170	cd05067	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	173	cd05148	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	170	cd05070	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	183	cd06644	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	172	cd05052	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	170	cd05071	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	189	cd05061	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	804	COG0515	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	156	cd07839	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	171	cd06617	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	269	cd07842	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	189	cd06610	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	181	cd06619	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	176	cd06621	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	231	cd06623	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	186	cd06605	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	167	cd06615	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	189	cd07832	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	404	cd05581	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	196	cd06609	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	173	cd08228	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	176	cd06625	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	167	cd08219	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	173	cd08229	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	228	cd05580	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	191	cd06622	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	241	cd05574	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	165	cd05612	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	190	cd05088	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	171	cd07844	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	204	cd07866	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	178	cd05109	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	178	cd05111	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	178	cd05110	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	181	cd06616	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	178	cd05065	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	178	cd05081	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	179	cd05079	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	176	cd05066	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	212	cd05033	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	202	cd05038	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	177	cd05080	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	168	cd05112	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	168	cd05114	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	169	cd05113	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	170	cd05059	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	191	cd06638	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	308	cd05055	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	254	cd05046	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	202	cd05050	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	236	cd05096	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	200	cd05097	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	201	cd05049	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	210	cd05095	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	239	cd05051	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	176	cd06643	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	193	cd05091	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	196	cd05048	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	193	cd05090	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	170	cd07872	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	171	cd06620	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	178	cd05063	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	176	cd05064	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	191	cd05092	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	169	cd06649	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	189	cd05093	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	199	cd05094	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	172	cd06611	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	176	cd06653	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	168	cd05630	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	214	cd05043	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	173	cd07847	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	200	cd06652	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	178	cd08216	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	174	cd08224	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	187	cd05076	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	168	cd07846	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	176	cd07863	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	184	cd06659	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	202	cd06639	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	178	cd06607	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	202	cd06626	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	169	cd07871	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	171	cd07873	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	186	cd07864	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	163	cd05571	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	163	cd05602	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	163	cd05590	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	179	cd05592	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	162	cd05595	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	162	cd05593	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	178	cd05047	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	172	cd05060	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	238	cd08217	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	165	cd05116	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	192	cd05037	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	398	cd00192	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	173	cd05078	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	175	cd05077	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	163	cd05591	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	186	cd05044	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	163	cd05084	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	169	cd05086	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	162	cd05085	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	174	cd05087	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	173	cd05042	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	165	cd05041	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	180	cd05040	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	178	cd05118	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	163	cd05594	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	185	cd07837	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	165	cd05570	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	176	cd05058	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	163	cd05619	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	165	cd05582	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	163	cd05603	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	193	cd07835	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	221	cd06614	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	196	cd07865	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	183	cd06654	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	183	cd06648	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	177	cd07856	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	268	cd07840	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	172	cd07831	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	232_G	cd07833	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	178	cd06637	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	210	cd06608	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	185	cd06618	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	181	cd06624	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	232	cd05057	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	249	cd05103	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	298	cd05054	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	247	cd05102	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	270	cd07830	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	349	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	554	smart00219	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	296	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	168	cd05589	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	770	smart00221	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	204	cd07838	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	192	cd05035	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	196	cd05075	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	182	cd05074	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	203	cd05099	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	219	cd05053	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	201	cd07851	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	184	cd06633	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	203	cd05100	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	311	cd05107	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	309	cd05105	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	209	cd05098	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	188	cd06635	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	180	cd06917	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	171	cd08221	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	165	cd05115	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	169	cd06650	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	183	cd06612	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	168	cd06640	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	189	cd07845	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	168	cd06642	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	168	cd06641	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	170	cd06613	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	707	smart00220	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	189	cd06632	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	177	cd06631	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	171	cd05584	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	168	cd05605	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	170	cd07836	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	199	cd07841	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	173	cd08529	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	243	cd07834	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	169	cd08225	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	175	cd08530	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	168	cd08218	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	169	cd08223	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	183	cd06628	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	168	cd05631	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	173	cd05587	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	173	cd08222	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	211	cd07829	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	207	cd05122	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	283	cd06606	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	180	cd06629	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	210	cd06627	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	168	cd07861	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	190	cd08528	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	196	cd05045	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	176	cd06630	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	235	cd08215	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	173	cd05578	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	176	cd06651	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	173	cd05614	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	188	cd05613	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	174	cd05583	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	167	cd07860	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	164	cd05608	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	161	cd05607	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	167	cd05577	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	627	cd00180	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	238	cd05572	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	160	cd05585	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	701	cd05579	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	736	cd05123	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	206	cd05101	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	177	cd08220	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	178	cd05108	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	181	cd07878	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	182	cd06656	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	178	cd06634	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	173	cd06645	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	182	cd06655	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	182	cd06647	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	291	cd05106	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	293	cd05104	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	185	cd05089	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	191	cd05036	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	233	cd05032	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	188	cd05062	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	206	cd05056	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	178	cd07858	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	164	cd05083	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	166	cd05082	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	170	cd05069	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	171	cd05072	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	176	cd05068	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	173	cd05039	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	181	cd05034	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	171	cd05073	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	170	cd05067	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	173	cd05148	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	170	cd05070	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	183	cd06644	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	172	cd05052	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	170	cd05071	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	189	cd05061	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	804	COG0515	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	156	cd07839	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	171	cd06617	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	269	cd07842	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	189	cd06610	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	181	cd06619	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	176	cd06621	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	231	cd06623	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	186	cd06605	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	167	cd06615	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	189	cd07832	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	404	cd05581	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	196	cd06609	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	173	cd08228	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	176	cd06625	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	167	cd08219	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	173	cd08229	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	228	cd05580	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	191	cd06622	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	241	cd05574	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	165	cd05612	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	190	cd05088	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	171	cd07844	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	204	cd07866	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	178	cd05109	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	178	cd05111	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	178	cd05110	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	181	cd06616	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	178	cd05065	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	178	cd05081	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	179	cd05079	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	176	cd05066	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	212	cd05033	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	202	cd05038	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	177	cd05080	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	168	cd05112	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	168	cd05114	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	169	cd05113	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	170	cd05059	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	191	cd06638	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	308	cd05055	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	254	cd05046	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	202	cd05050	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	236	cd05096	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	200	cd05097	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	201	cd05049	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	210	cd05095	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	239	cd05051	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	176	cd06643	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	193	cd05091	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	196	cd05048	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	193	cd05090	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	170	cd07872	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	171	cd06620	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	178	cd05063	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	176	cd05064	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	191	cd05092	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	169	cd06649	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	189	cd05093	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	199	cd05094	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	172	cd06611	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	176	cd06653	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	168	cd05630	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	214	cd05043	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	173	cd07847	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	200	cd06652	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	178	cd08216	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	174	cd08224	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	187	cd05076	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	168	cd07846	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	176	cd07863	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	184	cd06659	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	202	cd06639	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	178	cd06607	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	202	cd06626	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	169	cd07871	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	171	cd07873	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	186	cd07864	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	163	cd05571	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	163	cd05602	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	163	cd05590	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	179	cd05592	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	162	cd05595	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	162	cd05593	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	178	cd05047	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	172	cd05060	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	238	cd08217	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	165	cd05116	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	192	cd05037	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	398	cd00192	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	173	cd05078	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	175	cd05077	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	163	cd05591	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	186	cd05044	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	163	cd05084	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	169	cd05086	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	162	cd05085	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	174	cd05087	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	173	cd05042	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	165	cd05041	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	180	cd05040	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	178	cd05118	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	163	cd05594	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	185	cd07837	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	165	cd05570	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	176	cd05058	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	163	cd05619	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	165	cd05582	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	163	cd05603	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	193	cd07835	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	221	cd06614	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	196	cd07865	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	183	cd06654	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	183	cd06648	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	177	cd07856	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	268	cd07840	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	172	cd07831	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	232_G	cd07833	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	178	cd06637	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	210	cd06608	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	185	cd06618	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	181	cd06624	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	232	cd05057	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	249	cd05103	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	298	cd05054	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	247	cd05102	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	270	cd07830	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	349	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	554	smart00219	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	296	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	168	cd05589	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	770	smart00221	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	204	cd07838	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	192	cd05035	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	196	cd05075	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	182	cd05074	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	203	cd05099	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	219	cd05053	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	201	cd07851	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	184	cd06633	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	203	cd05100	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	311	cd05107	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	309	cd05105	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	209	cd05098	10862703,NP_066124
5979	547807	Disease	p.Met918Thr	VAR_006342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006342	- Renal adysplasia [MIM:191830]	SWISS	188	cd06635	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	183	cd06917	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	174	cd08221	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	168	cd05115	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd06650	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	186	cd06612	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd06640	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	193	cd07845	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd06642	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd06641	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	173	cd06613	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	710	smart00220	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	192	cd06632	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	180	cd06631	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	174	cd05584	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd05605	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	173	cd07836	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	207	cd07841	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	176	cd08529	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	246	cd07834	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd08225	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	178	cd08530	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd08218	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd08223	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	186	cd06628	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd05631	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	176	cd05587	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	176	cd08222	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	214	cd07829	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	210	cd05122	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	286	cd06606	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	186	cd06629	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	213	cd06627	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd07861	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	193	cd08528	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	199	cd05045	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	179	cd06630	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd08215	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	176	cd05578	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	179	cd06651	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	176	cd05614	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	191	cd05613	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	177	cd05583	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	170	cd07860	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd05608	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	164	cd05607	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	170	cd05577	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	630	cd00180	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	241	cd05572	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	163	cd05585	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	713	cd05579	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	739	cd05123	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	209	cd05101	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	180	cd08220	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	181	cd05108	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	185	cd07878	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	185	cd06656	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	181	cd06634	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	176	cd06645	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	185	cd06655	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	185	cd06647	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	294	cd05106	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	296	cd05104	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	188	cd05089	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	194	cd05036	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	236	cd05032	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	191	cd05062	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	209	cd05056	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	181	cd07858	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	167	cd05083	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	169	cd05082	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	173	cd05069	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	174	cd05072	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	179	cd05068	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	176	cd05039	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	184	cd05034	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	174	cd05073	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	173	cd05067	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	176	cd05148	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	173	cd05070	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	185	cd06644	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	175	cd05052	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	173	cd05071	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	192	cd05061	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	807	COG0515	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	159	cd07839	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	177	cd06617	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	272	cd07842	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	192	cd06610	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	184	cd06619	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	179	cd06621	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232_G	cd06623	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	192	cd06605	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	170	cd06615	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	192	cd07832	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	407	cd05581	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	199	cd06609	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	176	cd08228	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	179	cd06625	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	170	cd08219	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	176	cd08229	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	231	cd05580	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	195	cd06622	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	244	cd05574	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	168	cd05612	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	193	cd05088	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	174	cd07844	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	207	cd07866	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	181	cd05109	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	181	cd05111	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	181	cd05110	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	184	cd06616	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	181	cd05065	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	181	cd05081	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	182	cd05079	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	179	cd05066	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	215	cd05033	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	205	cd05038	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	180	cd05080	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd05112	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd05114	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd05113	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	173	cd05059	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	194	cd06638	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	311	cd05055	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	257	cd05046	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	205	cd05050	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	239	cd05096	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	203	cd05097	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	204	cd05049	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	213	cd05095	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	242	cd05051	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	178	cd06643	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	196	cd05091	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	199	cd05048	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	196	cd05090	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	173	cd07872	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	174	cd06620	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	181	cd05063	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	179	cd05064	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	194	cd05092	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd06649	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	192	cd05093	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	202	cd05094	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	180	cd06611	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	179	cd06653	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd05630	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	217	cd05043	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	176	cd07847	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	203	cd06652	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	181	cd08216	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	177	cd08224	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	190	cd05076	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd07846	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	180	cd07863	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	187	cd06659	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	205	cd06639	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	181	cd06607	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	205	cd06626	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	172	cd07871	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	174	cd07873	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	189	cd07864	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd05571	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd05602	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd05590	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	182	cd05592	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	165	cd05595	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	165	cd05593	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	181	cd05047	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	175	cd05060	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	241	cd08217	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	168	cd05116	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	195	cd05037	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	401	cd00192	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	176	cd05078	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	178	cd05077	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd05591	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	189	cd05044	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd05084	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	175	cd05086	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	165	cd05085	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	177	cd05087	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	179	cd05042	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	168	cd05041	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	183	cd05040	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	182	cd05118	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd05594	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	189	cd07837	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	168	cd05570	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	179	cd05058	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd05619	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	168	cd05582	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	166	cd05603	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	197	cd07835	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	224	cd06614	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	200	cd07865	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	186	cd06654	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	186	cd06648	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	177_G	cd07856	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	271	cd07840	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	176	cd07831	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232_G	cd07833	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	181	cd06637	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	219	cd06608	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	188	cd06618	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	184	cd06624	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	235	cd05057	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	252	cd05103	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	301	cd05054	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	250	cd05102	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	273	cd07830	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	355	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	557	smart00219	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	303	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	171	cd05589	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	773	smart00221	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	219	cd07838	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	195	cd05035	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	199	cd05075	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	185	cd05074	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	206	cd05099	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	222	cd05053	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	204	cd07851	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	187	cd06633	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	206	cd05100	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	314	cd05107	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	312	cd05105	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	212	cd05098	10862703,NP_066124
5979	547807	Disease	p.Glu921Lys	VAR_006343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006343	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	191	cd06635	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	209	cd06917	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	199	cd08221	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	193	cd05115	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	196_G	cd06650	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	215	cd06612	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	196	cd06640	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	238	cd07845	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	196	cd06642	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	196	cd06641	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	204	cd06613	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	789	smart00220	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	221	cd06632	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	205	cd06631	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	199	cd05584	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	196	cd05605	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	199	cd07836	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	232_G	cd07841	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	201	cd08529	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	284	cd07834	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	197	cd08225	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	203	cd08530	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	196	cd08218	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	197	cd08223	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	211	cd06628	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	196	cd05631	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	201	cd05587	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	201	cd08222	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	250	cd07829	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	240	cd05122	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	341	cd06606	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	209_G	cd06629	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	240	cd06627	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	198	cd07861	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	218	cd08528	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	224	cd05045	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	204	cd06630	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	265	cd08215	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	206	cd05578	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	204	cd06651	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	202	cd05614	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	216	cd05613	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	204	cd05583	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	196	cd07860	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	192	cd05608	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	190	cd05607	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	196	cd05577	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	680	cd00180	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	266	cd05572	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	188	cd05585	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	739	cd05579	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	807	cd05123	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	234	cd05101	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	205	cd08220	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	206	cd05108	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	211	cd07878	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	210	cd06656	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	209	cd06634	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	204	cd06645	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	210	cd06655	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	210	cd06647	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	319	cd05106	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	321	cd05104	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	213	cd05089	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	219	cd05036	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	261	cd05032	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	216	cd05062	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	234	cd05056	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	207_G	cd07858	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	192	cd05083	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	194	cd05082	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	198	cd05069	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	199	cd05072	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	204	cd05068	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	201	cd05039	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	209	cd05034	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	199	cd05073	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	198	cd05067	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	201	cd05148	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	198	cd05070	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	210	cd06644	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	200	cd05052	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	198	cd05071	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	217	cd05061	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	928	COG0515	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	195	cd07839	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	203	cd06617	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	311	cd07842	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	219	cd06610	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	208_G	cd06619	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	203_G	cd06621	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	253_G	cd06623	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	219	cd06605	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	195	cd06615	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	240	cd07832	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	446	cd05581	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	226	cd06609	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	201	cd08228	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	205	cd06625	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	195	cd08219	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	201	cd08229	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	257_G	cd05580	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	219	cd06622	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	291_G	cd05574	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	192_G	cd05612	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	218	cd05088	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	200	cd07844	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	264	cd07866	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	206	cd05109	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	206	cd05111	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	206	cd05110	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	213	cd06616	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	206	cd05065	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	206	cd05081	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	207	cd05079	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	204	cd05066	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	240	cd05033	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	233	cd05038	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	205	cd05080	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	196	cd05112	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	196	cd05114	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	197	cd05113	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	198	cd05059	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	224	cd06638	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	336	cd05055	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	282	cd05046	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	230	cd05050	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	264	cd05096	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	228	cd05097	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	229	cd05049	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	238	cd05095	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	267	cd05051	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	203	cd06643	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	221	cd05091	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	224	cd05048	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	221	cd05090	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	200	cd07872	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	200_G	cd06620	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	206	cd05063	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	204	cd05064	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	219	cd05092	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	196	cd06649	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	217	cd05093	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	227	cd05094	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	205	cd06611	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	204	cd06653	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	196	cd05630	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	242	cd05043	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	203	cd07847	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	228	cd06652	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	245	cd08216	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	202	cd08224	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	217	cd05076	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	198	cd07846	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	205	cd07863	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	212	cd06659	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	235	cd06639	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	209	cd06607	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	242	cd06626	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	199	cd07871	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	200	cd07873	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	216	cd07864	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	191	cd05571	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	190_G	cd05602	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	191	cd05590	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	206_G	cd05592	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	190	cd05595	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	190	cd05593	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	206	cd05047	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	200	cd05060	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	268	cd08217	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	193	cd05116	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	226	cd05037	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	433	cd00192	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	202	cd05078	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	204	cd05077	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	191	cd05591	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	214	cd05044	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	191	cd05084	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	204	cd05086	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	190	cd05085	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	209	cd05087	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	208	cd05042	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	193	cd05041	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	208	cd05040	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	208	cd05118	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	191	cd05594	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	215	cd07837	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	192_G	cd05570	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	204	cd05058	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	190_G	cd05619	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	193	cd05582	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	191	cd05603	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	223	cd07835	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	249	cd06614	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	245	cd07865	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	211	cd06654	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	211	cd06648	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	199_G	cd07856	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	295	cd07840	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	202	cd07831	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	255	cd07833	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	211	cd06637	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	243	cd06608	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	218	cd06618	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	211	cd06624	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	260	cd05057	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	277	cd05103	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	326	cd05054	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	275	cd05102	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	333	cd07830	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	392	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	585	smart00219	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	347	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	195_G	cd05589	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	861	smart00221	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	244	cd07838	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	220	cd05035	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	224	cd05075	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	210	cd05074	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	231	cd05099	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	247	cd05053	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	231	cd07851	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	215	cd06633	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	231	cd05100	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	339	cd05107	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	337	cd05105	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	237	cd05098	10862703,NP_066124
5979	547807	Disease	p.Thr946Met	VAR_006345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006345	- Multiple neoplasia type 2B (MEN2B) [MIM:162300]	SWISS	219	cd06635	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd06917	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	224	cd08221	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	219	cd05115	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	220	cd06650	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	244	cd06612	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	221	cd06640	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	276	cd07845	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	221	cd06642	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	221	cd06641	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	233	cd06613	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	947	smart00220	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	248	cd06632	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	231	cd06631	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	223	cd05584	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	224	cd05605	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	228	cd07836	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	263	cd07841	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	253	cd08529	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	375	cd07834	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	222	cd08225	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	228	cd08530	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	221	cd08218	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	222	cd08223	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	237	cd06628	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	224	cd05631	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	225	cd05587	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	226	cd08222	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	309	cd07829	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	310	cd05122	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	379	cd06606	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	234	cd06629	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	267	cd06627	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	227	cd07861	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	237	cd08528	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	250	cd05045	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	230	cd06630	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	294	cd08215	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd05578	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	227	cd06651	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	228	cd05614	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	240	cd05613	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232_G	cd05583	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	225	cd07860	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	216	cd05608	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	220	cd05607	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	224	cd05577	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	824	cd00180	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	300	cd05572	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	212	cd05585	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	780	cd05579	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	843	cd05123	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	260	cd05101	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	228	cd08220	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232	cd05108	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	239	cd07878	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	237	cd06656	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	237	cd06634	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	233	cd06645	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	237	cd06655	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	237	cd06647	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	346	cd05106	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	348	cd05104	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	239	cd05089	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	245	cd05036	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	288	cd05032	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	242	cd05062	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	260	cd05056	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	236	cd07858	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	218	cd05083	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	220	cd05082	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	224	cd05069	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	225	cd05072	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	230	cd05068	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	227	cd05039	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	235	cd05034	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	225	cd05073	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	250	cd05067	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	260	cd05148	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	224	cd05070	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	237	cd06644	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	226	cd05052	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	224	cd05071	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	243	cd05061	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	1106	COG0515	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	219_G	cd07839	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	229	cd06617	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	391	cd07842	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	248	cd06610	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	251	cd06619	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	234	cd06621	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	295	cd06623	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	293	cd06605	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	230	cd06615	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	298	cd07832	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	478	cd05581	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	259	cd06609	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	222	cd08228	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	231	cd06625	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	220	cd08219	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	225	cd08229	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	285	cd05580	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	248	cd06622	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	318	cd05574	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	217	cd05612	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	244	cd05088	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	230	cd07844	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	310	cd07866	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232	cd05109	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232	cd05111	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232	cd05110	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	243	cd06616	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232	cd05065	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	247	cd05081	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	247	cd05079	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	230	cd05066	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	266	cd05033	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	287	cd05038	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	245	cd05080	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	222	cd05112	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	222	cd05114	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	223	cd05113	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	224	cd05059	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	251	cd06638	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	363	cd05055	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	310	cd05046	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	256	cd05050	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	298	cd05096	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	262	cd05097	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	258	cd05049	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	272	cd05095	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	317	cd05051	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	230	cd06643	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	247	cd05091	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	250	cd05048	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	247	cd05090	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	229	cd07872	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	286	cd06620	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232	cd05063	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	230	cd05064	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	245	cd05092	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	216	cd06649	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	243	cd05093	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	306	cd05094	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232	cd06611	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	227	cd06653	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	224	cd05630	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	268	cd05043	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	229	cd07847	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	251	cd06652	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	274	cd08216	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	227	cd08224	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	243	cd05076	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	258	cd07846	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	234	cd07863	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232	cd06659	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	262	cd06639	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	242	cd06607	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	271	cd06626	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	228	cd07871	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	229	cd07873	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	265	cd07864	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	215	cd05571	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	204	cd05602	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	215	cd05590	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	231	cd05592	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	214	cd05595	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	214	cd05593	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232	cd05047	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	226	cd05060	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	294	cd08217	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	219	cd05116	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	257	cd05037	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	480	cd00192	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	228	cd05078	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	230	cd05077	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	215	cd05591	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	240	cd05044	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	217	cd05084	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232	cd05086	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	216	cd05085	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	235	cd05087	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	236	cd05042	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	219	cd05041	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	236	cd05040	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	260	cd05118	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	215	cd05594	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd07837	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	226	cd05570	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	230	cd05058	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	215	cd05619	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	217	cd05582	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	205_G	cd05603	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	252	cd07835	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	276	cd06614	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	276	cd07865	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd06654	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	239	cd06648	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	230	cd07856	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	327	cd07840	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	260	cd07831	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	335	cd07833	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	237	cd06637	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	275	cd06608	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	250	cd06618	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd06624	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	286	cd05057	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	304	cd05103	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	353	cd05054	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	302	cd05102	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	356_G	cd07830	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	447	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	657	smart00219	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	393	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	220	cd05589	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	973	smart00221	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	290	cd07838	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	246	cd05035	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	250	cd05075	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	236	cd05074	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	257	cd05099	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	274	cd05053	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	262	cd07851	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	241	cd06633	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	258	cd05100	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	366	cd05107	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	364	cd05105	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	263	cd05098	10862703,NP_066124
5979	547807	Disease	p.Arg972Gly	VAR_006346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006346	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	245	cd06635	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	239	cd06917	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	225	cd08221	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	220	cd05115	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	220_G	cd06650	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	245	cd06612	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	222	cd06640	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	277	cd07845	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	222	cd06642	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	222	cd06641	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	234	cd06613	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	968	smart00220	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	249	cd06632	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	233	cd06631	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	224	cd05584	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	225	cd05605	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	229	cd07836	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	264	cd07841	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	254	cd08529	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	376	cd07834	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	223	cd08225	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	229	cd08530	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	222	cd08218	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	223	cd08223	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd06628	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	225	cd05631	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	226	cd05587	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	227	cd08222	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	310	cd07829	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	311	cd05122	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	380	cd06606	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	235	cd06629	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	268	cd06627	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	228	cd07861	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	244	cd08528	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	251	cd05045	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	231	cd06630	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	295	cd08215	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	239	cd05578	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	228	cd06651	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	231	cd05614	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	241	cd05613	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	233	cd05583	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	226	cd07860	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	217	cd05608	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	220_G	cd05607	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	225	cd05577	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	825	cd00180	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	301	cd05572	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	213	cd05585	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	781	cd05579	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	844	cd05123	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	261	cd05101	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	229	cd08220	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	233	cd05108	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	240	cd07878	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd06656	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd06634	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	234	cd06645	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd06655	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd06647	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	347	cd05106	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	349	cd05104	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	240	cd05089	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	246	cd05036	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	289	cd05032	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	243	cd05062	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	261	cd05056	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	237	cd07858	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	219	cd05083	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	221	cd05082	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	225	cd05069	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	226	cd05072	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	231	cd05068	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	228	cd05039	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	236	cd05034	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	226	cd05073	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	251	cd05067	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	261	cd05148	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	225	cd05070	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd06644	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	227	cd05052	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	225	cd05071	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	244	cd05061	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	1107	COG0515	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	219_G	cd07839	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	230	cd06617	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	393	cd07842	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	249	cd06610	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	252	cd06619	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	235	cd06621	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	296	cd06623	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	294	cd06605	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	269	cd06615	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	299	cd07832	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	479	cd05581	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	260	cd06609	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	223	cd08228	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232	cd06625	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	221	cd08219	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	226	cd08229	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	286	cd05580	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	249	cd06622	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	319	cd05574	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	218	cd05612	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	245	cd05088	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	231	cd07844	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	311	cd07866	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	233	cd05109	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	233	cd05111	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	233	cd05110	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	244	cd06616	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	233	cd05065	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	248	cd05081	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	248	cd05079	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	231	cd05066	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	267	cd05033	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	288	cd05038	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	246	cd05080	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	223	cd05112	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	223	cd05114	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	224	cd05113	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	225	cd05059	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	252	cd06638	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	364	cd05055	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	311	cd05046	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	257	cd05050	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	299	cd05096	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	263	cd05097	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	259	cd05049	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	273	cd05095	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	318	cd05051	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	231	cd06643	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	248	cd05091	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	251	cd05048	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	248	cd05090	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	230	cd07872	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	287	cd06620	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	233	cd05063	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	231	cd05064	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	246	cd05092	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	217	cd06649	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	244	cd05093	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	307	cd05094	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	233	cd06611	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	228	cd06653	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	225	cd05630	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	269	cd05043	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	234	cd07847	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	252	cd06652	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	275	cd08216	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	228	cd08224	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	244	cd05076	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	259	cd07846	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	235	cd07863	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	233	cd06659	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	263	cd06639	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	243	cd06607	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	272	cd06626	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	229	cd07871	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	230	cd07873	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	265_G	cd07864	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	216	cd05571	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	205	cd05602	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	216	cd05590	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232	cd05592	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	215	cd05595	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	215	cd05593	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	233	cd05047	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	227	cd05060	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	295	cd08217	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	220	cd05116	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	258	cd05037	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	481	cd00192	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	229	cd05078	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	231	cd05077	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	216	cd05591	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	241	cd05044	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	218	cd05084	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	233	cd05086	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	217	cd05085	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	236	cd05087	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	237	cd05042	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	220	cd05041	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	237	cd05040	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	266	cd05118	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	216	cd05594	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	239	cd07837	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	227	cd05570	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	231	cd05058	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	216	cd05619	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	218	cd05582	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	205_G	cd05603	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	253	cd07835	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	277	cd06614	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	277	cd07865	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	239	cd06654	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	240	cd06648	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	231	cd07856	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	328	cd07840	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	261	cd07831	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	336	cd07833	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd06637	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	276	cd06608	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	251	cd06618	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	239	cd06624	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	287	cd05057	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	305	cd05103	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	354	cd05054	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	303	cd05102	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	357	cd07830	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	449	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	658	smart00219	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	394	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	221	cd05589	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	974	smart00221	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	291	cd07838	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	247	cd05035	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	251	cd05075	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	237	cd05074	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	258	cd05099	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	275	cd05053	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	263	cd07851	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	242	cd06633	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	259	cd05100	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	367	cd05107	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	365	cd05105	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	264	cd05098	10862703,NP_066124
5979	547807	Disease	p.Pro973Leu	VAR_006347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006347	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	246	cd06635	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	246	cd06917	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	234	cd08221	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	227	cd05115	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	227	cd06650	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	252	cd06612	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	229	cd06640	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	289	cd07845	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	229	cd06642	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	229	cd06641	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	241	cd06613	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	1181	smart00220	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	256	cd06632	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	240	cd06631	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	231	cd05584	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232	cd05605	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	235	cd07836	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	271	cd07841	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	434	cd07834	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	230	cd08225	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	237	cd08530	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	229	cd08218	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	230	cd08223	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	245	cd06628	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232	cd05631	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	233	cd05587	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	234	cd08222	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	338	cd07829	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	327	cd05122	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	403	cd06606	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	249	cd06629	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	276	cd06627	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	235	cd07861	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	252	cd08528	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	258	cd05045	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	241	cd06630	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	311	cd08215	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	256	cd05578	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	237	cd06651	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd05614	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	248	cd05613	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	240	cd05583	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	233	cd07860	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	228	cd05608	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	227	cd05607	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	233	cd05577	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	832	cd00180	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	310	cd05572	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	220	cd05585	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	797	cd05579	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	878	cd05123	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	268	cd05101	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd08220	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	240	cd05108	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	247	cd07878	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	245	cd06656	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	245	cd06634	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	241	cd06645	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	245	cd06655	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	245	cd06647	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	354	cd05106	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	356	cd05104	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	247	cd05089	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	253	cd05036	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	299	cd05032	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	250	cd05062	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	268	cd05056	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	246	cd07858	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	226	cd05083	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	228	cd05082	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232	cd05069	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	233	cd05072	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd05068	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	235	cd05039	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	245	cd05034	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	233	cd05073	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	258	cd05067	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	268	cd05148	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232	cd05070	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	245	cd06644	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	234	cd05052	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232	cd05071	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	251	cd05061	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	1139	COG0515	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	224	cd07839	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	239	cd06617	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	411	cd07842	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	265	cd06610	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	259	cd06619	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	251	cd06621	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	314	cd06623	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	312	cd06605	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	278	cd06615	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	311	cd07832	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	503	cd05581	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	268	cd06609	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	237	cd08228	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	239	cd06625	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	228	cd08219	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	237	cd08229	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	295	cd05580	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	257	cd06622	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	331	cd05574	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	226	cd05612	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	252	cd05088	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	239	cd07844	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	319	cd07866	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	240	cd05109	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	240	cd05111	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	240	cd05110	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	255	cd06616	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	240	cd05065	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	255	cd05081	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	255	cd05079	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd05066	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	274	cd05033	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	301	cd05038	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	253	cd05080	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	230	cd05112	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	230	cd05114	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	231	cd05113	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232	cd05059	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	259	cd06638	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	371	cd05055	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	318	cd05046	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	264	cd05050	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	306	cd05096	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	270	cd05097	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	266	cd05049	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	281	cd05095	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	325	cd05051	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd06643	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	255	cd05091	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	258	cd05048	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	255	cd05090	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	237	cd07872	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	300	cd06620	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	240	cd05063	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd05064	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	253	cd05092	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	224	cd06649	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	251	cd05093	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	314	cd05094	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	240	cd06611	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	242	cd06653	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	232	cd05630	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	276	cd05043	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	241	cd07847	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	261	cd06652	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	287	cd08216	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	239	cd08224	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	249	cd05076	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	280	cd07846	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	242	cd07863	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	240	cd06659	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	270	cd06639	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	249	cd06607	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	281	cd06626	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	236	cd07871	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	237	cd07873	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	271	cd07864	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	223	cd05571	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	212	cd05602	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	223	cd05590	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	239	cd05592	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	222	cd05595	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	222	cd05593	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	240	cd05047	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	234	cd05060	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	302	cd08217	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	227	cd05116	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	269	cd05037	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	494	cd00192	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	234	cd05078	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	236	cd05077	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	223	cd05591	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	248	cd05044	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	225	cd05084	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	243	cd05086	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	224	cd05085	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	248	cd05087	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	247	cd05042	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	227	cd05041	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	244	cd05040	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	284	cd05118	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	223	cd05594	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	243	cd07837	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	234	cd05570	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd05058	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	223	cd05619	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	225	cd05582	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	212	cd05603	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	260	cd07835	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	284	cd06614	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	284	cd07865	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	246	cd06654	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	247	cd06648	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	238	cd07856	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	336	cd07840	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	273	cd07831	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	344	cd07833	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	245	cd06637	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	283	cd06608	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	258	cd06618	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	246	cd06624	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	294	cd05057	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	312	cd05103	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	361	cd05054	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	310	cd05102	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	369	cd07830	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	456	pfam07714	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	673	smart00219	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	442	pfam00069	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	228	cd05589	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	981	smart00221	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	328	cd07838	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	254	cd05035	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	258	cd05075	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	244	cd05074	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	265	cd05099	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	282	cd05053	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	270	cd07851	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	249	cd06633	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	266	cd05100	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	374	cd05107	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	372	cd05105	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	271	cd05098	10862703,NP_066124
5979	547807	Disease	p.Met980Thr	VAR_006348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006348	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	253	cd06635	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	278	cd06650	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	291	cd05584	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	289	cd05605	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	521	cd07834	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	303	cd05587	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	286	cd07861	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	305	cd05614	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	291	cd05585	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	306	cd05108	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	314	cd07878	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	304	cd06634	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	314	cd07858	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	1243	COG0515	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	314	cd06622	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	280	cd06649	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	285	cd06659	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	310	cd06607	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	298	cd07873	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	274	cd05571	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	269	cd05602	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	297	cd05590	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	311	cd05592	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	297	cd05595	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	282	cd05593	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	298	cd05591	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	283	cd05594	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	300	cd07837	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	308	cd05570	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	290	cd05619	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	296	cd05582	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	269	cd05603	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	307	cd07856	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	302	cd05589	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	356	cd07851	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	308	cd06633	10862703,NP_066124
5979	547807	Disease	p.Pro1039Leu	VAR_018157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018157	- Congenital central hypoventilation syndrome (CCHS) [MIM:209880]	SWISS	312	cd06635	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	294	cd06650	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	298	cd05584	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	313	cd05587	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	314	cd05614	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	301	cd05585	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	324	cd07878	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	324	cd07858	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	1253	COG0515	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	328	cd06622	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	296	cd06649	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	295	cd06659	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	282	cd05571	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	278	cd05602	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	307	cd05590	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	321	cd05592	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	310	cd05595	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	292	cd05593	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	307_G	cd05591	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	293	cd05594	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	319	cd05570	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	300	cd05619	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	303_G	cd05582	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	280	cd05603	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	317	cd07856	10862703,NP_066124
5979	547807	Disease	p.Pro1049Leu	VAR_044397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044397	- Renal adysplasia [MIM:191830]	SWISS	314	cd05589	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	306	cd06650	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	311	cd05584	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	325	cd05587	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	327	cd05614	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	312	cd05585	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	335	cd07878	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	336	cd07858	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	1344	COG0515	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	339	cd06622	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	321	cd06649	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	294	cd05571	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	288	cd05602	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	319	cd05590	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	333	cd05592	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	322	cd05595	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	306	cd05593	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	315	cd05591	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	305	cd05594	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	331	cd05570	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	310_G	cd05619	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	312	cd05582	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	292	cd05603	10862703,NP_066124
5979	547807	Disease	p.Leu1061Pro	VAR_009490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009490	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	326	cd05589	10862703,NP_066124
5979	547807	Disease	p.Met1064Thr	VAR_009491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009491	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	309	cd06650	10862703,NP_066124
5979	547807	Disease	p.Met1064Thr	VAR_009491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009491	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	314	cd05584	10862703,NP_066124
5979	547807	Disease	p.Met1064Thr	VAR_009491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009491	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	328	cd05587	10862703,NP_066124
5979	547807	Disease	p.Met1064Thr	VAR_009491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009491	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	330	cd05614	10862703,NP_066124
5979	547807	Disease	p.Met1064Thr	VAR_009491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009491	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	338	cd07878	10862703,NP_066124
5979	547807	Disease	p.Met1064Thr	VAR_009491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009491	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	339	cd07858	10862703,NP_066124
5979	547807	Disease	p.Met1064Thr	VAR_009491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009491	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	1347	COG0515	10862703,NP_066124
5979	547807	Disease	p.Met1064Thr	VAR_009491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009491	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	324	cd06649	10862703,NP_066124
5979	547807	Disease	p.Met1064Thr	VAR_009491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009491	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	296	cd05571	10862703,NP_066124
5979	547807	Disease	p.Met1064Thr	VAR_009491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009491	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	291	cd05602	10862703,NP_066124
5979	547807	Disease	p.Met1064Thr	VAR_009491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009491	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	336	cd05592	10862703,NP_066124
5979	547807	Disease	p.Met1064Thr	VAR_009491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009491	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	325	cd05595	10862703,NP_066124
5979	547807	Disease	p.Met1064Thr	VAR_009491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009491	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	309	cd05593	10862703,NP_066124
5979	547807	Disease	p.Met1064Thr	VAR_009491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009491	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	318	cd05591	10862703,NP_066124
5979	547807	Disease	p.Met1064Thr	VAR_009491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009491	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	308	cd05594	10862703,NP_066124
5979	547807	Disease	p.Met1064Thr	VAR_009491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009491	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	313	cd05619	10862703,NP_066124
5979	547807	Disease	p.Met1064Thr	VAR_009491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009491	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	315	cd05582	10862703,NP_066124
5979	547807	Disease	p.Met1064Thr	VAR_009491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009491	- Hirschsprung disease (HSCR) [MIM:142623]	SWISS	295	cd05603	10862703,NP_066124
5979	547807	Disease	p.Pro1067Ser	VAR_044398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044398	- Renal adysplasia [MIM:191830]	SWISS	313	cd06650	10862703,NP_066124
5979	547807	Disease	p.Pro1067Ser	VAR_044398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044398	- Renal adysplasia [MIM:191830]	SWISS	317	cd05584	10862703,NP_066124
5979	547807	Disease	p.Pro1067Ser	VAR_044398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044398	- Renal adysplasia [MIM:191830]	SWISS	331	cd05587	10862703,NP_066124
5979	547807	Disease	p.Pro1067Ser	VAR_044398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044398	- Renal adysplasia [MIM:191830]	SWISS	341	cd07878	10862703,NP_066124
5979	547807	Disease	p.Pro1067Ser	VAR_044398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044398	- Renal adysplasia [MIM:191830]	SWISS	342	cd07858	10862703,NP_066124
5979	547807	Disease	p.Pro1067Ser	VAR_044398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044398	- Renal adysplasia [MIM:191830]	SWISS	1350	COG0515	10862703,NP_066124
5979	547807	Disease	p.Pro1067Ser	VAR_044398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044398	- Renal adysplasia [MIM:191830]	SWISS	327	cd06649	10862703,NP_066124
5979	547807	Disease	p.Pro1067Ser	VAR_044398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044398	- Renal adysplasia [MIM:191830]	SWISS	299	cd05571	10862703,NP_066124
5979	547807	Disease	p.Pro1067Ser	VAR_044398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044398	- Renal adysplasia [MIM:191830]	SWISS	294	cd05602	10862703,NP_066124
5979	547807	Disease	p.Pro1067Ser	VAR_044398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044398	- Renal adysplasia [MIM:191830]	SWISS	315	cd05593	10862703,NP_066124
5979	547807	Disease	p.Pro1067Ser	VAR_044398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044398	- Renal adysplasia [MIM:191830]	SWISS	321	cd05591	10862703,NP_066124
5979	547807	Disease	p.Pro1067Ser	VAR_044398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044398	- Renal adysplasia [MIM:191830]	SWISS	314	cd05594	10862703,NP_066124
5979	547807	Disease	p.Pro1067Ser	VAR_044398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044398	- Renal adysplasia [MIM:191830]	SWISS	298	cd05603	10862703,NP_066124
91869	74731102	Disease	p.Arg67Cys	VAR_044334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044334	- Congenital disorder of glycosylation type 1N (CDG1N) [MIM:612015]	SWISS	60	pfam04506	16418361,NP_443091
91869	74731102	Disease	p.Lys152Glu	VAR_062572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062572	- Congenital disorder of glycosylation type 1N (CDG1N) [MIM:612015]	SWISS	171	pfam04506	16418361,NP_443091
91869	74731102	Disease	p.Glu298Lys	VAR_062573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062573	- Congenital disorder of glycosylation type 1N (CDG1N) [MIM:612015]	SWISS	336	pfam04506	16418361,NP_443091
113278	82654931	Disease	p.Glu36Lys	VAR_063694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063694	- Brown-Vialetto-Van Laere syndrome (BVVLS) [MIM:211530]	SWISS	No Domain	N/A	156564359,NP_212134
113278	82654931	Disease	p.Arg132Trp	VAR_063695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063695	- Brown-Vialetto-Van Laere syndrome (BVVLS) [MIM:211530]	SWISS	No Domain	N/A	156564359,NP_212134
113278	82654931	Disease	p.Phe224Leu	VAR_063696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063696	- Brown-Vialetto-Van Laere syndrome (BVVLS) [MIM:211530]	SWISS	No Domain	N/A	156564359,NP_212134
113278	82654931	Disease	p.Val413Ala	VAR_063700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063700	- Brown-Vialetto-Van Laere syndrome (BVVLS) [MIM:211530]	SWISS	No Domain	N/A	156564359,NP_212134
113278	82654931	Disease	p.Phe457Leu	VAR_063701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063701	- Brown-Vialetto-Van Laere syndrome (BVVLS) [MIM:211530]	SWISS	No Domain	N/A	156564359,NP_212134
5993	1350587	Disease	p.Arg149Gln	VAR_015550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015550	- Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]	SWISS	93	pfam02257	71040090,NP_001020774|4557843,NP_000440
222546	166225159	Disease	p.Arg181Gln	VAR_062978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062978	- The Mitchell-Riley syndrome (MIRIS) [MIM:601346]	SWISS	94	pfam02257	258547126,NP_775831
222546	166225159	Disease	p.Ser217Pro	VAR_062979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062979	- The Mitchell-Riley syndrome (MIRIS) [MIM:601346]	SWISS	No Domain	N/A	258547126,NP_775831
8625	6093962	Disease	p.Leu195Pro	VAR_009941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009941	- Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]	SWISS	7	pfam00023	4506499,NP_003712
8625	6093962	Disease	p.Leu195Pro	VAR_009941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009941	- Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]	SWISS	7	smart00248	4506499,NP_003712
8625	6093962	Disease	p.Leu195Pro	VAR_009941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009941	- Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]	SWISS	259	cd00204	4506499,NP_003712
8625	6093962	Disease	p.Leu195Pro	VAR_009941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009941	- Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]	SWISS	304	COG0666	4506499,NP_003712
5995	1350592	Disease	p.Ser66Arg	VAR_017034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017034	- Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	SWISS	32	pfam00001	61744454,NP_001012738
8787	8475983	Disease	p.Trp299Arg	VAR_017912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017912	- Prolonged electroretinal response suppression (PERRS) [MIM:608415]	SWISS	No Domain	N/A	126365761,NP_003826
6005	218511807	Disease	p.Ser79Asn	VAR_006921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006921	- Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]	SWISS	69	pfam00909	156627565,NP_000315
6005	218511807	Disease	p.Ser79Asn	VAR_006921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006921	- Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]	SWISS	42	COG0004	156627565,NP_000315
6005	218511807	Disease	p.Val270Ile	VAR_015855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015855	rs16879498 Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]	SWISS	319	pfam00909	156627565,NP_000315
6005	218511807	Disease	p.Val270Ile	VAR_015855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015855	rs16879498 Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]	SWISS	365	COG0004	156627565,NP_000315
6005	218511807	Disease	p.Gly279Glu	VAR_015856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015856	rs28933991 Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]	SWISS	328	pfam00909	156627565,NP_000315
6005	218511807	Disease	p.Gly279Glu	VAR_015856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015856	rs28933991 Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]	SWISS	374	COG0004	156627565,NP_000315
6005	218511807	Disease	p.Gly280Arg	VAR_015857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015857	- Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]	SWISS	329	pfam00909	156627565,NP_000315
6005	218511807	Disease	p.Gly280Arg	VAR_015857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015857	- Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]	SWISS	375	COG0004	156627565,NP_000315
6005	218511807	Disease	p.Gly380Val	VAR_015858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015858	- Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]	SWISS	463	pfam00909	156627565,NP_000315
6005	218511807	Disease	p.Gly380Val	VAR_015858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015858	- Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]	SWISS	519	COG0004	156627565,NP_000315
6010	129207	Disease	p.Thr4Lys	VAR_004765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004765	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	3	pfam10413	4506527,NP_000530
6010	129207	Disease	p.Asn15Ser	VAR_004766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004766	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	14	pfam10413	4506527,NP_000530
6010	129207	Disease	p.Thr17Met	VAR_004767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004767	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	16	pfam10413	4506527,NP_000530
6010	129207	Disease	p.Pro23His	VAR_004768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004768	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	22	pfam10413	4506527,NP_000530
6010	129207	Disease	p.Pro23Leu	VAR_004769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004769	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	22	pfam10413	4506527,NP_000530
6010	129207	Disease	p.Gln28His	VAR_004770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004770	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	27	pfam10413	4506527,NP_000530
6010	129207	Disease	p.Leu40Arg	VAR_004771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004771	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	No Domain	N/A	4506527,NP_000530
6010	129207	Disease	p.Met44Thr	VAR_004772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004772	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	3	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Met44Thr	VAR_004772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004772	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	5	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Met44Thr	VAR_004772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004772	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	2	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Phe45Leu	VAR_004773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004773	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	4	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Phe45Leu	VAR_004773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004773	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	6	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Phe45Leu	VAR_004773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004773	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	3	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Leu46Arg	VAR_004774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004774	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	8	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Leu46Arg	VAR_004774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004774	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	7	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Leu46Arg	VAR_004774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004774	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	4	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Gly51Arg	VAR_004776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004776	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	13	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Gly51Arg	VAR_004776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004776	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	12	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Gly51Arg	VAR_004776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004776	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	8_G	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Gly51Val	VAR_004777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004777	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	13	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Gly51Val	VAR_004777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004777	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	12	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Gly51Val	VAR_004777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004777	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	8_G	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Pro53Arg	VAR_004778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004778	rs28933395 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	15	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Pro53Arg	VAR_004778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004778	rs28933395 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	14	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Pro53Arg	VAR_004778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004778	rs28933395 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	10	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Thr58Arg	VAR_004779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004779	rs28933394 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	20	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Thr58Arg	VAR_004779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004779	rs28933394 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	19	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Thr58Arg	VAR_004779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004779	rs28933394 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	15	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Val87Asp	VAR_004781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004781	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	49	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Val87Asp	VAR_004781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004781	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	32	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Val87Asp	VAR_004781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004781	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	49	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Val87Asp	VAR_004781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004781	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	49	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Gly89Asp	VAR_004782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004782	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	51	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Gly89Asp	VAR_004782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004782	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	34	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Gly89Asp	VAR_004782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004782	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	51	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Gly89Asp	VAR_004782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004782	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	51	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Gly90Asp	VAR_004783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004783	- Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445]	SWISS	52	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Gly90Asp	VAR_004783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004783	- Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445]	SWISS	35	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Gly90Asp	VAR_004783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004783	- Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445]	SWISS	52	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Gly90Asp	VAR_004783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004783	- Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445]	SWISS	52	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Thr94Ile	VAR_004784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004784	- Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445]	SWISS	56	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Thr94Ile	VAR_004784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004784	- Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445]	SWISS	39	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Thr94Ile	VAR_004784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004784	- Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445]	SWISS	56	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Thr94Ile	VAR_004784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004784	- Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445]	SWISS	56	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Gly106Arg	VAR_004786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004786	rs28933994 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	74	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Gly106Arg	VAR_004786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004786	rs28933994 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	60	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Gly106Arg	VAR_004786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004786	rs28933994 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	94	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Gly106Arg	VAR_004786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004786	rs28933994 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	72	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Gly106Trp	VAR_004787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004787	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	74	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Gly106Trp	VAR_004787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004787	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	60	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Gly106Trp	VAR_004787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004787	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	94	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Gly106Trp	VAR_004787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004787	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	72	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Gly109Arg	VAR_004788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004788	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	85	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Gly109Arg	VAR_004788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004788	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	66	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Gly109Arg	VAR_004788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004788	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	97	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Gly109Arg	VAR_004788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004788	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	75	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Cys110Phe	VAR_004789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004789	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	86	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Cys110Phe	VAR_004789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004789	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	67	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Cys110Phe	VAR_004789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004789	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	98	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Cys110Phe	VAR_004789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004789	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	79	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Cys110Tyr	VAR_004790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004790	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	86	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Cys110Tyr	VAR_004790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004790	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	67	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Cys110Tyr	VAR_004790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004790	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	98	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Cys110Tyr	VAR_004790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004790	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	79	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Gly114Asp	VAR_004791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004791	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	111	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Gly114Asp	VAR_004791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004791	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	71	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Gly114Asp	VAR_004791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004791	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	102	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Gly114Asp	VAR_004791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004791	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	83	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Leu125Arg	VAR_004792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004792	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	135	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Leu125Arg	VAR_004792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004792	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	82	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Leu125Arg	VAR_004792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004792	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	113	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Leu125Arg	VAR_004792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004792	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	92	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Ser127Phe	VAR_004793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004793	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	137	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Ser127Phe	VAR_004793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004793	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	84	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Ser127Phe	VAR_004793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004793	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	115	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Ser127Phe	VAR_004793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004793	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	94	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Leu131Pro	VAR_004794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004794	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	141	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Leu131Pro	VAR_004794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004794	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	88	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Leu131Pro	VAR_004794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004794	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	119	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Leu131Pro	VAR_004794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004794	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	98	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Arg135Gly	VAR_004795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004795	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	145	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Arg135Gly	VAR_004795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004795	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	92	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Arg135Gly	VAR_004795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004795	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	123	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Arg135Gly	VAR_004795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004795	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	102	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Arg135Leu	VAR_004796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004796	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	145	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Arg135Leu	VAR_004796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004796	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	92	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Arg135Leu	VAR_004796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004796	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	123	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Arg135Leu	VAR_004796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004796	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	102	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Arg135Trp	VAR_004797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004797	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	145	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Arg135Trp	VAR_004797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004797	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	92	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Arg135Trp	VAR_004797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004797	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	123	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Arg135Trp	VAR_004797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004797	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	102	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Cys140Ser	VAR_004798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004798	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	150	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Cys140Ser	VAR_004798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004798	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	97	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Cys140Ser	VAR_004798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004798	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	128	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Cys140Ser	VAR_004798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004798	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	107	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Glu150Lys	VAR_004799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004799	- Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	SWISS	160	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Glu150Lys	VAR_004799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004799	- Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	SWISS	107	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Glu150Lys	VAR_004799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004799	- Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	SWISS	138	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Glu150Lys	VAR_004799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004799	- Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	SWISS	118	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Ala164Glu	VAR_004800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004800	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	174	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Ala164Glu	VAR_004800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004800	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	124	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Ala164Glu	VAR_004800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004800	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	154	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Ala164Glu	VAR_004800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004800	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	133	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Ala164Val	VAR_004801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004801	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	174	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Ala164Val	VAR_004801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004801	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	124	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Ala164Val	VAR_004801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004801	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	154	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Ala164Val	VAR_004801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004801	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	133	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Cys167Arg	VAR_004802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004802	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	177	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Cys167Arg	VAR_004802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004802	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	127	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Cys167Arg	VAR_004802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004802	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	157	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Cys167Arg	VAR_004802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004802	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	136	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Pro171Leu	VAR_004803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004803	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	181	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Pro171Leu	VAR_004803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004803	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	131	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Pro171Leu	VAR_004803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004803	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	177	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Pro171Leu	VAR_004803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004803	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	140	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Pro171Gln	VAR_004804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004804	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	181	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Pro171Gln	VAR_004804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004804	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	131	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Pro171Gln	VAR_004804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004804	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	177	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Pro171Gln	VAR_004804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004804	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	140	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Pro171Ser	VAR_004805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004805	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	181	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Pro171Ser	VAR_004805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004805	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	131	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Pro171Ser	VAR_004805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004805	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	177	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Pro171Ser	VAR_004805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004805	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	140	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Tyr178Cys	VAR_004806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004806	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	189	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Tyr178Cys	VAR_004806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004806	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	138	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Tyr178Cys	VAR_004806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004806	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	184	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Tyr178Cys	VAR_004806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004806	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	147	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Tyr178Asn	VAR_004807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004807	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	189	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Tyr178Asn	VAR_004807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004807	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	138	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Tyr178Asn	VAR_004807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004807	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	184	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Tyr178Asn	VAR_004807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004807	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	147	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Glu181Lys	VAR_004808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004808	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	207	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Glu181Lys	VAR_004808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004808	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	141	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Glu181Lys	VAR_004808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004808	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	187	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Glu181Lys	VAR_004808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004808	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	150	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Gly182Ser	VAR_004809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004809	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	208	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Gly182Ser	VAR_004809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004809	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	142	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Gly182Ser	VAR_004809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004809	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	188	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Gly182Ser	VAR_004809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004809	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	151	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Ser186Pro	VAR_004810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004810	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	212	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Ser186Pro	VAR_004810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004810	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	158	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Ser186Pro	VAR_004810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004810	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	192	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Ser186Pro	VAR_004810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004810	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	155	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Gly188Glu	VAR_004811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004811	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	240	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Gly188Glu	VAR_004811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004811	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	160	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Gly188Glu	VAR_004811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004811	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	194	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Gly188Glu	VAR_004811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004811	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	157	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Gly188Arg	VAR_004812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004812	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	240	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Gly188Arg	VAR_004812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004812	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	160	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Gly188Arg	VAR_004812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004812	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	194	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Gly188Arg	VAR_004812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004812	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	157	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Asp190Gly	VAR_004814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004814	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	242	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Asp190Gly	VAR_004814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004814	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	162	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Asp190Gly	VAR_004814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004814	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	196	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Asp190Gly	VAR_004814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004814	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	159	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Asp190Asn	VAR_004813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004813	rs28933992 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	242	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Asp190Asn	VAR_004813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004813	rs28933992 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	162	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Asp190Asn	VAR_004813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004813	rs28933992 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	196	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Asp190Asn	VAR_004813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004813	rs28933992 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	159	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Asp190Tyr	VAR_004815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004815	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	242	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Asp190Tyr	VAR_004815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004815	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	162	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Asp190Tyr	VAR_004815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004815	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	196	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Asp190Tyr	VAR_004815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004815	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	159	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Met207Arg	VAR_004816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004816	rs28933995 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	265	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Met207Arg	VAR_004816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004816	rs28933995 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	184	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Met207Arg	VAR_004816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004816	rs28933995 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	235	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Met207Arg	VAR_004816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004816	rs28933995 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	176	pfam10323	4506527,NP_000530
6010	129207	Disease	p.His211Pro	VAR_004818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004818	rs28933993 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	273	pfam10324	4506527,NP_000530
6010	129207	Disease	p.His211Pro	VAR_004818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004818	rs28933993 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	188	pfam00001	4506527,NP_000530
6010	129207	Disease	p.His211Pro	VAR_004818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004818	rs28933993 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	239	pfam10317	4506527,NP_000530
6010	129207	Disease	p.His211Pro	VAR_004818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004818	rs28933993 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	180	pfam10323	4506527,NP_000530
6010	129207	Disease	p.His211Arg	VAR_004819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004819	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	273	pfam10324	4506527,NP_000530
6010	129207	Disease	p.His211Arg	VAR_004819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004819	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	188	pfam00001	4506527,NP_000530
6010	129207	Disease	p.His211Arg	VAR_004819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004819	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	239	pfam10317	4506527,NP_000530
6010	129207	Disease	p.His211Arg	VAR_004819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004819	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	180	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Met216Lys	VAR_004820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004820	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	278	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Met216Lys	VAR_004820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004820	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	194	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Met216Lys	VAR_004820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004820	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	244	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Met216Lys	VAR_004820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004820	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	186	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Phe220Cys	VAR_004821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004821	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	282	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Phe220Cys	VAR_004821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004821	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	198	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Phe220Cys	VAR_004821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004821	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	248	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Phe220Cys	VAR_004821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004821	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	190	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Cys222Arg	VAR_004822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004822	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	284	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Cys222Arg	VAR_004822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004822	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	200	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Cys222Arg	VAR_004822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004822	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	250	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Cys222Arg	VAR_004822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004822	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	192	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Pro267Leu	VAR_004825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004825	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	344	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Pro267Leu	VAR_004825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004825	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	381	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Pro267Leu	VAR_004825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004825	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	295	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Pro267Leu	VAR_004825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004825	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	257	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Pro267Arg	VAR_004826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004826	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	344	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Pro267Arg	VAR_004826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004826	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	381	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Pro267Arg	VAR_004826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004826	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	295	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Pro267Arg	VAR_004826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004826	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	257	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Ala292Glu	VAR_004827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004827	- Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445]	SWISS	406	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Ala292Glu	VAR_004827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004827	- Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445]	SWISS	416	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Ala292Glu	VAR_004827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004827	- Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445]	SWISS	324	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Ala292Glu	VAR_004827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004827	- Congenital stationary night blindness autosomal dominant type 1 (CSNBAD1) [MIM:610445]	SWISS	284	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Lys296Glu	VAR_004828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004828	rs29001653 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	413	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Lys296Glu	VAR_004828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004828	rs29001653 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	420	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Lys296Glu	VAR_004828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004828	rs29001653 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	326_G	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Lys296Glu	VAR_004828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004828	rs29001653 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	288	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Ser297Arg	VAR_004829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004829	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	414	pfam10324	4506527,NP_000530
6010	129207	Disease	p.Ser297Arg	VAR_004829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004829	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	421	pfam00001	4506527,NP_000530
6010	129207	Disease	p.Ser297Arg	VAR_004829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004829	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	326_G	pfam10317	4506527,NP_000530
6010	129207	Disease	p.Ser297Arg	VAR_004829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004829	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	289	pfam10323	4506527,NP_000530
6010	129207	Disease	p.Thr342Met	VAR_004830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004830	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	No Domain	N/A	4506527,NP_000530
6010	129207	Disease	p.Val345Leu	VAR_004831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004831	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	No Domain	N/A	4506527,NP_000530
6010	129207	Disease	p.Val345Met	VAR_004832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004832	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	No Domain	N/A	4506527,NP_000530
6010	129207	Disease	p.Pro347Ala	VAR_004833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004833	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	No Domain	N/A	4506527,NP_000530
6010	129207	Disease	p.Pro347Leu	VAR_004834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004834	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	No Domain	N/A	4506527,NP_000530
6010	129207	Disease	p.Pro347Gln	VAR_004835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004835	- Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	No Domain	N/A	4506527,NP_000530
6010	129207	Disease	p.Pro347Arg	VAR_004836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004836	rs29001566 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	No Domain	N/A	4506527,NP_000530
6010	129207	Disease	p.Pro347Ser	VAR_004837	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004837	rs29001637 Retinitis pigmentosa type 4 (RP4) [MIM:180380]	SWISS	No Domain	N/A	4506527,NP_000530
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	78	cd04029	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	123	cd04020	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	78	cd08392	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	79	cd08405	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	78	cd08381	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	140	pfam00168	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	93	cd08675	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	65	cd08378	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	61	cd04024	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	213	cd00030	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	78	cd08386	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	97	cd04031	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	62	cd04043	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	60	cd04022	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	254	smart00239	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	58	cd04025	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	92	cd08388	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	86	cd04009	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	160	cd08521	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	91	cd00276	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	79	cd08685	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	77	cd08385	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	86	cd08390	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	82	cd04035	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	84	cd08404	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	82	cd04030	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	83	cd04026	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	75	cd08384	41054864,NP_055804
22999	34395763	Disease	p.Arg820His	VAR_016804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016804	- Cone-rod dystrophy type 7 (CORD7) [MIM:603649]	SWISS	78	cd08393	41054864,NP_055804
6017	117391	Disease	p.Arg151Gln	VAR_005140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005140	rs28933989 Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	SWISS	16	smart00516	4506541,NP_000317
6017	117391	Disease	p.Arg151Gln	VAR_005140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005140	rs28933989 Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]	SWISS	21	cd00170	4506541,NP_000317
6017	117391	Disease	p.Met226Lys	VAR_037317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037317	- Fundus albipunctatus (FA) [MIM:136880]	SWISS	132	pfam00650	4506541,NP_000317
6017	117391	Disease	p.Met226Lys	VAR_037317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037317	- Fundus albipunctatus (FA) [MIM:136880]	SWISS	214	smart00516	4506541,NP_000317
6017	117391	Disease	p.Met226Lys	VAR_037317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037317	- Fundus albipunctatus (FA) [MIM:136880]	SWISS	150	cd00170	4506541,NP_000317
6017	117391	Disease	p.Arg234Trp	VAR_015172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015172	rs28933990 Bothnia retinal dystrophy (BRD) [MIM:607475]	SWISS	140	pfam00650	4506541,NP_000317
6017	117391	Disease	p.Arg234Trp	VAR_015172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015172	rs28933990 Bothnia retinal dystrophy (BRD) [MIM:607475]	SWISS	223	smart00516	4506541,NP_000317
6017	117391	Disease	p.Arg234Trp	VAR_015172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015172	rs28933990 Bothnia retinal dystrophy (BRD) [MIM:607475]	SWISS	158	cd00170	4506541,NP_000317
10535	20981704	Disease	p.Gly37Ser	VAR_027377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027377	- Aicardi-Goutieres syndrome type 4 (AGS4) [MIM:610333]	SWISS	7	pfam01351	38455391,NP_006388
10535	20981704	Disease	p.Gly37Ser	VAR_027377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027377	- Aicardi-Goutieres syndrome type 4 (AGS4) [MIM:610333]	SWISS	7	cd07182	38455391,NP_006388
10535	20981704	Disease	p.Gly37Ser	VAR_027377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027377	- Aicardi-Goutieres syndrome type 4 (AGS4) [MIM:610333]	SWISS	7	cd06590	38455391,NP_006388
10535	20981704	Disease	p.Gly37Ser	VAR_027377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027377	- Aicardi-Goutieres syndrome type 4 (AGS4) [MIM:610333]	SWISS	7	cd07181	38455391,NP_006388
10535	20981704	Disease	p.Gly37Ser	VAR_027377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027377	- Aicardi-Goutieres syndrome type 4 (AGS4) [MIM:610333]	SWISS	7	cd07180	38455391,NP_006388
10535	20981704	Disease	p.Gly37Ser	VAR_027377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027377	- Aicardi-Goutieres syndrome type 4 (AGS4) [MIM:610333]	SWISS	7	cd06266	38455391,NP_006388
10535	20981704	Disease	p.Gly37Ser	VAR_027377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027377	- Aicardi-Goutieres syndrome type 4 (AGS4) [MIM:610333]	SWISS	9	COG0164	38455391,NP_006388
79621	74745929	Disease	p.Leu60Arg	VAR_027280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027280	- Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181]	SWISS	67	pfam09468	186910286,NP_078846
79621	74745929	Disease	p.His86Arg	VAR_027281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027281	- Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181]	SWISS	198	pfam09468	186910286,NP_078846
79621	74745929	Disease	p.Lys162Thr	VAR_027282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027282	- Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181]	SWISS	357	pfam09468	186910286,NP_078846
79621	74745929	Disease	p.Thr163Ile	VAR_027283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027283	- Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181]	SWISS	358	pfam09468	186910286,NP_078846
79621	74745929	Disease	p.Ala177Thr	VAR_027284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027284	- Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181]	SWISS	372	pfam09468	186910286,NP_078846
79621	74745929	Disease	p.Val185Gly	VAR_027285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027285	- Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181]	SWISS	386	pfam09468	186910286,NP_078846
79621	74745929	Disease	p.Tyr219His	VAR_027286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027286	- Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181]	SWISS	498	pfam09468	186910286,NP_078846
84153	74730607	Disease	p.Arg69Trp	VAR_027287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027287	- Aicardi-Goutieres syndrome type 3 (AGS3) [MIM:610329]	SWISS	207	pfam08615	38176285,NP_115569
84153	74730607	Disease	p.Lys143Ile	VAR_027288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027288	- Aicardi-Goutieres syndrome type 3 (AGS3) [MIM:610329]	SWISS	483	pfam08615	38176285,NP_115569
8635	20139363	Disease	p.Cys184Arg	VAR_063596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063596	- Leukoencephalopathy cystic without megalencephaly (LCWM) [MIM:612951]	SWISS	398	pfam00445	5231228,NP_003721
8635	20139363	Disease	p.Cys184Arg	VAR_063596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063596	- Leukoencephalopathy cystic without megalencephaly (LCWM) [MIM:612951]	SWISS	257	cd00374	5231228,NP_003721
8635	20139363	Disease	p.Cys184Arg	VAR_063596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063596	- Leukoencephalopathy cystic without megalencephaly (LCWM) [MIM:612951]	SWISS	252	cd01061	5231228,NP_003721
8635	20139363	Disease	p.Cys184Arg	VAR_063596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063596	- Leukoencephalopathy cystic without megalencephaly (LCWM) [MIM:612951]	SWISS	196	cd01062	5231228,NP_003721
6092	49036496	Disease	p.Ile945Thr	VAR_032960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032960	- Vesicoureteral reflux type 2 (VUR2) [MIM:610878]	SWISS	No Domain	N/A	61888896,NP_002933
6092	49036496	Disease	p.Ala1236Thr	VAR_032961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032961	- Vesicoureteral reflux type 2 (VUR2) [MIM:610878]	SWISS	No Domain	N/A	61888896,NP_002933
64221	49036492	Disease	p.Leu5Pro	VAR_019119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019119	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	No Domain	N/A	48476182,NP_071765
64221	49036492	Disease	p.Ile66Leu	VAR_019120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019120	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	4	cd07693	48476182,NP_071765
64221	49036492	Disease	p.Ile66Leu	VAR_019120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019120	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	2	cd05722	48476182,NP_071765
64221	49036492	Disease	p.Ile66Leu	VAR_019120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019120	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	4	cd04967	48476182,NP_071765
64221	49036492	Disease	p.Ile66Leu	VAR_019120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019120	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	4	cd05848	48476182,NP_071765
64221	49036492	Disease	p.Ile66Leu	VAR_019120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019120	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	3	pfam07679	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	80	cd05748	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	50	cd05764	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	50	cd05723	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	187	smart00409	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	187	smart00410	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	82	pfam00047	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	49	cd05852	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	63	cd04969	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	67	cd05722	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	61	cd05728	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	90	cd05894	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	75	cd05732	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	113	smart00408	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	50	cd05745	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	105	pfam07686	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	61	cd05729	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	61	cd05857	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	58	cd05856	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	69	cd05724	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	88	cd05734	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	50	cd05763	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	46	cd05876	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	46	cd05746	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	118	cd00096	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	49	cd05736	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	46	cd05731	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	48	cd05725	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	63	cd05851	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	69	cd05747	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	57	cd05750	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	64	cd04968	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	71	cd05730	48476182,NP_071765
64221	49036492	Disease	p.Glu319Lys	VAR_019073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019073	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	88	pfam07679	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	VAR_019121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019121	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	16	cd04968	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	VAR_019121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019121	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	11	smart00409	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	VAR_019121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019121	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	11	smart00410	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	VAR_019121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019121	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	9	cd05729	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	VAR_019121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019121	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	11	cd05724	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	VAR_019121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019121	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	14	cd05728	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	VAR_019121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019121	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	14	cd05722	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	VAR_019121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019121	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	16	cd05732	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	VAR_019121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019121	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	16	pfam07679	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	VAR_019121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019121	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	2	smart00408	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	VAR_019121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019121	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	2	cd05745	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	VAR_019121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019121	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	9	cd05856	48476182,NP_071765
64221	49036492	Disease	p.Gly361Glu	VAR_019121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019121	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	7	pfam07686	48476182,NP_071765
64221	49036492	Disease	p.Arg703Pro	VAR_019074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019074	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	40	pfam00041	48476182,NP_071765
64221	49036492	Disease	p.Arg703Pro	VAR_019074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019074	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	63	cd00063	48476182,NP_071765
64221	49036492	Disease	p.Arg703Pro	VAR_019074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019074	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	63	smart00060	48476182,NP_071765
64221	49036492	Disease	p.Ser705Pro	VAR_019075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019075	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	42	pfam00041	48476182,NP_071765
64221	49036492	Disease	p.Ser705Pro	VAR_019075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019075	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	65	cd00063	48476182,NP_071765
64221	49036492	Disease	p.Ser705Pro	VAR_019075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019075	- Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]	SWISS	65	smart00060	48476182,NP_071765
4920	90110767	Disease	p.Cys182Tyr	VAR_010911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010911	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	13	cd07468	19743898,NP_004551
4920	90110767	Disease	p.Cys182Tyr	VAR_010911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010911	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	13	cd07467	19743898,NP_004551
4920	90110767	Disease	p.Cys182Tyr	VAR_010911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010911	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	13	cd07469	19743898,NP_004551
4920	90110767	Disease	p.Cys182Tyr	VAR_010911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010911	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	13	cd07459	19743898,NP_004551
4920	90110767	Disease	p.Cys182Tyr	VAR_010911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010911	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	11	pfam01392	19743898,NP_004551
4920	90110767	Disease	p.Cys182Tyr	VAR_010911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010911	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	24	cd07066	19743898,NP_004551
4920	90110767	Disease	p.Arg184Cys	VAR_010768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010768	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	15	cd07468	19743898,NP_004551
4920	90110767	Disease	p.Arg184Cys	VAR_010768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010768	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	15	cd07467	19743898,NP_004551
4920	90110767	Disease	p.Arg184Cys	VAR_010768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010768	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	15	cd07469	19743898,NP_004551
4920	90110767	Disease	p.Arg184Cys	VAR_010768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010768	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	15	cd07459	19743898,NP_004551
4920	90110767	Disease	p.Arg184Cys	VAR_010768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010768	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	13	pfam01392	19743898,NP_004551
4920	90110767	Disease	p.Arg184Cys	VAR_010768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010768	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	26	cd07066	19743898,NP_004551
4920	90110767	Disease	p.Arg189Trp	VAR_010769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010769	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	20	cd07468	19743898,NP_004551
4920	90110767	Disease	p.Arg189Trp	VAR_010769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010769	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	20	cd07467	19743898,NP_004551
4920	90110767	Disease	p.Arg189Trp	VAR_010769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010769	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	19	cd07469	19743898,NP_004551
4920	90110767	Disease	p.Arg189Trp	VAR_010769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010769	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	23	cd07459	19743898,NP_004551
4920	90110767	Disease	p.Arg189Trp	VAR_010769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010769	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	18	pfam01392	19743898,NP_004551
4920	90110767	Disease	p.Arg189Trp	VAR_010769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010769	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	38	cd07066	19743898,NP_004551
4920	90110767	Disease	p.Arg366Trp	VAR_010770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010770	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	55	pfam00051	19743898,NP_004551
4920	90110767	Disease	p.Arg366Trp	VAR_010770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010770	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	65	cd00108	19743898,NP_004551
4920	90110767	Disease	p.Arg366Trp	VAR_010770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010770	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	61	smart00130	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	136	cd08229	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	149	cd05089	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	145	cd06612	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	136	cd08228	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	137	cd08224	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	134	cd07873	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	134	cd07872	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	133	cd07869	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	133	cd07870	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	134	cd07844	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	133	cd06613	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	161	cd07866	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	133	cd07871	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	170	cd05098	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	167	cd05101	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	148	cd05036	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	166	cd05056	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	148	cd07864	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	254	cd05104	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	164	cd05100	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	151	cd06636	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	126	cd05579	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	140	cd06644	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	182	cd06614	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	136	cd07847	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	140	cd06917	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	140	cd07862	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	160	cd06652	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	153	cd06609	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	211	cd06606	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	148	cd07837	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	145	cd06622	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	178	cd06623	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	131	cd06642	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	151	cd07845	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	131	cd06641	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	142	cd06610	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	587	COG0515	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	154	cd05088	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	139	cd05111	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	139	cd05110	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	139	cd05108	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	139	cd05109	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	192	cd05057	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	269	cd05055	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	164	cd05099	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	132	cd05078	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	135	cd05077	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	339	cd00192	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	149	cd05037	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	126	cd05619	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	134	cd06631	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	135	cd05058	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	133	cd05042	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	130	cd05086	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	179	cd07840	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	141	cd05592	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	142	cd05047	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	132	cd05060	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	125	cd05116	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	135	cd05087	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	124	cd05085	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	134	cd05040	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	124	cd05084	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	126	cd05041	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	149	cd06632	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	130	cd05112	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	130	cd05114	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	131	cd05113	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	132	cd05059	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	136	cd05065	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	158	cd05038	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	136	cd05066	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	168	cd05033	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	130	cd05083	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	172	cd05043	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	141	cd06637	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	147	cd07841	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	136	cd08529	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	234	cd07842	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	270	cd05105	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	272	cd05107	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	143	cd06624	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	258	cd05054	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	210	cd05103	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	208	cd05102	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	153	cd05094	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	150	cd05093	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	157	cd05048	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	132	cd05067	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	136	cd05039	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	133	cd05034	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	132	cd05082	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	135	cd05068	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	132	cd05069	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	154	cd05091	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	154	cd05090	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	133	cd05073	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	133	cd05072	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	132	cd05070	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	132	cd05071	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	152	cd05092	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	194	cd05032	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	149	cd05062	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	157	cd05049	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	161	cd05097	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	163	cd05050	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	216	cd05046	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	191	cd05051	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	186	cd05096	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	171	cd05095	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	138	cd05063	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	134	cd05052	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	137	cd05064	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	150	cd05061	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	180	cd05053	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	133	cd07859	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	137	cd08222	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	182	cd07830	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	145	cd07832	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	170	cd07829	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	136	cd08530	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	138	cd06628	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	246	cd05581	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	135	cd05148	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	137	cd05080	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	542	smart00221	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	131	cd05589	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	156	cd07835	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	138	cd05081	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	143	cd05074	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	157	cd05075	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	153	cd05035	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	286	pfam07714	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	221	pfam00069	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	427	smart00219	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	140	cd06629	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	127	cd05608	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	198	cd05572	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	128	cd05606	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	132	cd06626	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	371	cd00180	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	646	cd05123	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	140	cd05044	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	140	cd08220	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	136	cd06625	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	130	cd05577	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	173	cd08215	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	128	cd05582	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	156	cd07838	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	139	cd05118	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	162	cd08217	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	129	cd07839	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	252	cd05106	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	133	cd06630	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	130	cd07860	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	133	cd07836	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	135	cd05583	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	173	cd06608	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	137	cd06627	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	157	cd05045	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	141	cd07863	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	130	cd08219	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	131	cd08218	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	132	cd08223	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	131	cd08225	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	132	cd07861	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	139	cd05079	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	164	cd05122	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	132	cd05605	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	136	cd05587	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	148	cd05613	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	132	cd08221	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	432	smart00220	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	135	cd06611	19743898,NP_004551
4920	90110767	Disease	p.Asn620Lys	VAR_010771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010771	- Recessive Robinow syndrome (RRS) [MIM:268310]	SWISS	125	cd05115	19743898,NP_004551
6102	60416394	Disease	p.Cys67Tyr	VAR_018069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018069	- Retinitis pigmentosa type 2 (RP2) [MIM:312600]	SWISS	9	pfam07986	170016081,NP_008846
6102	60416394	Disease	p.Cys86Tyr	VAR_018070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018070	- Retinitis pigmentosa type 2 (RP2) [MIM:312600]	SWISS	43	pfam07986	170016081,NP_008846
6102	60416394	Disease	p.Cys86Tyr	VAR_018070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018070	- Retinitis pigmentosa type 2 (RP2) [MIM:312600]	SWISS	20	smart00673	170016081,NP_008846
6102	60416394	Disease	p.Pro95Leu	VAR_018071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018071	- Retinitis pigmentosa type 2 (RP2) [MIM:312600]	SWISS	53	pfam07986	170016081,NP_008846
6102	60416394	Disease	p.Pro95Leu	VAR_018071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018071	- Retinitis pigmentosa type 2 (RP2) [MIM:312600]	SWISS	30	smart00673	170016081,NP_008846
6102	60416394	Disease	p.Cys108Gly	VAR_008498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008498	- Retinitis pigmentosa type 2 (RP2) [MIM:312600]	SWISS	66	pfam07986	170016081,NP_008846
6102	60416394	Disease	p.Cys108Gly	VAR_008498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008498	- Retinitis pigmentosa type 2 (RP2) [MIM:312600]	SWISS	4	smart00673	170016081,NP_008846
6102	60416394	Disease	p.Arg118Cys	VAR_026058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026058	- Retinitis pigmentosa type 2 (RP2) [MIM:312600]	SWISS	76	pfam07986	170016081,NP_008846
6102	60416394	Disease	p.Arg118Cys	VAR_026058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026058	- Retinitis pigmentosa type 2 (RP2) [MIM:312600]	SWISS	16	smart00673	170016081,NP_008846
6102	60416394	Disease	p.Arg118His	VAR_008499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008499	- Retinitis pigmentosa type 2 (RP2) [MIM:312600]	SWISS	76	pfam07986	170016081,NP_008846
6102	60416394	Disease	p.Arg118His	VAR_008499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008499	- Retinitis pigmentosa type 2 (RP2) [MIM:312600]	SWISS	16	smart00673	170016081,NP_008846
6102	60416394	Disease	p.Arg118Leu	VAR_018072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018072	rs28933687 Retinitis pigmentosa type 2 (RP2) [MIM:312600]	SWISS	76	pfam07986	170016081,NP_008846
6102	60416394	Disease	p.Arg118Leu	VAR_018072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018072	rs28933687 Retinitis pigmentosa type 2 (RP2) [MIM:312600]	SWISS	16	smart00673	170016081,NP_008846
6102	60416394	Disease	p.Glu138Gly	VAR_018074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018074	- Retinitis pigmentosa type 2 (RP2) [MIM:312600]	SWISS	103	pfam07986	170016081,NP_008846
6102	60416394	Disease	p.Glu138Gly	VAR_018074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018074	- Retinitis pigmentosa type 2 (RP2) [MIM:312600]	SWISS	38	smart00673	170016081,NP_008846
6102	60416394	Disease	p.Leu188Pro	VAR_018075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018075	- Retinitis pigmentosa type 2 (RP2) [MIM:312600]	SWISS	No Domain	N/A	170016081,NP_008846
6102	60416394	Disease	p.Leu253Arg	VAR_008500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008500	- Retinitis pigmentosa type 2 (RP2) [MIM:312600]	SWISS	No Domain	N/A	170016081,NP_008846
6100	38372427	Disease	p.His137Leu	VAR_017252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017252	- Retinitis pigmentosa type 9 (RP9) [MIM:180104]	SWISS	No Domain	N/A	42718020,NP_976033
6100	38372427	Disease	p.Asp170Gly	VAR_017253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017253	- Retinitis pigmentosa type 9 (RP9) [MIM:180104]	SWISS	No Domain	N/A	42718020,NP_976033
6121	44888872	Disease	p.Leu22Pro	VAR_017126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017126	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	38	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Leu22Pro	VAR_017126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017126	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	22	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Gly40Ser	VAR_017127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017127	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	63	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Gly40Ser	VAR_017127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017127	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	54	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Arg44Gln	VAR_017128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017128	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	67	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Arg44Gln	VAR_017128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017128	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	59	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.His68Tyr	VAR_017129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017129	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	91	COG3670	4506591,NP_000320
6121	44888872	Disease	p.His68Tyr	VAR_017129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017129	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	134	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Tyr79His	VAR_060809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060809	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	106	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Tyr79His	VAR_060809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060809	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	165	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Arg85His	VAR_060810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060810	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	112	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Arg85His	VAR_060810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060810	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	171	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Arg91Gln	VAR_017131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017131	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	118	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Arg91Gln	VAR_017131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017131	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	177	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Arg91Trp	VAR_017130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017130	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	118	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Arg91Trp	VAR_017130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017130	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	177	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Glu95Gln	VAR_060811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060811	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	122	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Glu95Gln	VAR_060811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060811	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	190	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Glu102Lys	VAR_060812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060812	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	129	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Glu102Lys	VAR_060812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060812	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	213	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Ala132Thr	VAR_017132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017132	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	156	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Ala132Thr	VAR_017132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017132	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	334	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Tyr144Asp	VAR_017133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017133	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	169	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Tyr144Asp	VAR_017133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017133	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	438	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Glu148Asp	VAR_060813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060813	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	173	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Glu148Asp	VAR_060813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060813	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	447	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Asp167Tyr	VAR_060814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060814	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	192	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Asp167Tyr	VAR_060814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060814	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	487	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.His182Asn	VAR_060815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060815	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	208	COG3670	4506591,NP_000320
6121	44888872	Disease	p.His182Asn	VAR_060815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060815	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	571	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.His182Tyr	VAR_017134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017134	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	208	COG3670	4506591,NP_000320
6121	44888872	Disease	p.His182Tyr	VAR_017134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017134	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	571	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Tyr239Asp	VAR_060816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060816	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	259	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Tyr239Asp	VAR_060816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060816	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	755	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Val287Phe	VAR_017135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017135	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	338	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Val287Phe	VAR_017135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017135	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	846	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Lys294Thr	VAR_060817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060817	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	345	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Lys294Thr	VAR_060817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060817	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	854	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Asn321Lys	VAR_017136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017136	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	374	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Asn321Lys	VAR_017136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017136	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	931	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Cys330Tyr	VAR_060818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060818	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	385	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Cys330Tyr	VAR_060818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060818	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	960	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Leu341Ser	VAR_017137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017137	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	391	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Leu341Ser	VAR_017137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017137	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	1069	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Pro363Thr	VAR_017138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017138	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	414	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Pro363Thr	VAR_017138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017138	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	1138	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Tyr368His	VAR_017139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017139	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	419	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Tyr368His	VAR_017139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017139	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	1154	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Ala393Glu	VAR_060819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060819	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	430	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Ala393Glu	VAR_060819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060819	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	1305	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Ala393Gly	VAR_017140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017140	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	430	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Ala393Gly	VAR_017140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017140	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	1305	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Glu417Gln	VAR_017141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017141	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	440	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Glu417Gln	VAR_017141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017141	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	1384	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Tyr431Cys	VAR_018151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018151	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	453	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Tyr431Cys	VAR_018151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018151	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	1420	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Ala434Val	VAR_034477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034477	rs34627040 Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	456	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Ala434Val	VAR_034477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034477	rs34627040 Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	1423	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Tyr435Cys	VAR_060820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060820	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	457	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Tyr435Cys	VAR_060820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060820	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	1426	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Gly436Val	VAR_060821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060821	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	458	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Gly436Val	VAR_060821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060821	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	1427	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Val452Gly	VAR_017142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017142	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	485	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Val452Gly	VAR_017142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017142	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	1522	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Pro470Leu	VAR_060822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060822	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	504	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Pro470Leu	VAR_060822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060822	- Leber congenital amaurosis type 2 (LCA2) [MIM:204100]	SWISS	1684	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Val473Asp	VAR_060823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060823	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	507	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Val473Asp	VAR_060823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060823	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	1687	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Arg515Trp	VAR_037619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037619	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	549	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Arg515Trp	VAR_037619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037619	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	1835	pfam03055	4506591,NP_000320
6121	44888872	Disease	p.Gly528Val	VAR_060824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060824	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	562	COG3670	4506591,NP_000320
6121	44888872	Disease	p.Gly528Val	VAR_060824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060824	- Retinitis pigmentosa type 20 (RP20) [MIM:180069]	SWISS	1851	pfam03055	4506591,NP_000320
6103	23503098	Disease	p.Gly43Glu	VAR_018057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018057	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	72	COG5184	NULL
6103	23503098	Disease	p.Gly43Arg	VAR_018058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018058	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	72	COG5184	NULL
6103	23503098	Disease	p.Gly60Val	VAR_008501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008501	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	91	COG5184	NULL
6103	23503098	Disease	p.Gly60Val	VAR_008501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008501	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	8	pfam00415	NULL
6103	23503098	Disease	p.Ile75Val	VAR_008503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008503	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	106	COG5184	NULL
6103	23503098	Disease	p.Ile75Val	VAR_008503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008503	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	44	pfam00415	NULL
6103	23503098	Disease	p.His98Gln	VAR_008504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008504	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	160	COG5184	NULL
6103	23503098	Disease	p.His98Gln	VAR_008504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008504	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	85	pfam00415	NULL
6103	23503098	Disease	p.Thr99Asn	VAR_013625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013625	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	161	COG5184	NULL
6103	23503098	Disease	p.Thr99Asn	VAR_013625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013625	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	86	pfam00415	NULL
6103	23503098	Disease	p.Arg127Gly	VAR_018059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018059	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	230	COG5184	NULL
6103	23503098	Disease	p.Arg127Gly	VAR_018059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018059	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	44	pfam00415	NULL
6103	23503098	Disease	p.Phe130Cys	VAR_006850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006850	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	233	COG5184	NULL
6103	23503098	Disease	p.Phe130Cys	VAR_006850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006850	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	47	pfam00415	NULL
6103	23503098	Disease	p.Ser152Leu	VAR_025949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025949	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	266	COG5184	NULL
6103	23503098	Disease	p.Ser152Leu	VAR_025949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025949	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	86	pfam00415	NULL
6103	23503098	Disease	p.Gly173Arg	VAR_018060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018060	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	18	pfam00415	NULL
6103	23503098	Disease	p.Gly173Arg	VAR_018060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018060	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	288	COG5184	NULL
6103	23503098	Disease	p.Gly173Arg	VAR_018060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018060	- Retinitis pigmentosa with deafness and sinorespiratory infections (RPDSI) [MIM:300455]	SWISS	18	pfam00415	NULL
6103	23503098	Disease	p.Gly173Arg	VAR_018060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018060	- Retinitis pigmentosa with deafness and sinorespiratory infections (RPDSI) [MIM:300455]	SWISS	288	COG5184	NULL
6103	23503098	Disease	p.Gly215Val	VAR_008505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008505	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	341	COG5184	NULL
6103	23503098	Disease	p.Gly215Val	VAR_008505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008505	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	8	pfam00415	NULL
6103	23503098	Disease	p.Pro235Ser	VAR_006851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006851	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	369	COG5184	NULL
6103	23503098	Disease	p.Pro235Ser	VAR_006851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006851	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	47	pfam00415	NULL
6103	23503098	Disease	p.Cys250Arg	VAR_008506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008506	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	407	COG5184	NULL
6103	23503098	Disease	p.Cys250Arg	VAR_008506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008506	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	81	pfam00415	NULL
6103	23503098	Disease	p.Cys250Tyr	VAR_018061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018061	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	407	COG5184	NULL
6103	23503098	Disease	p.Cys250Tyr	VAR_018061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018061	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	81	pfam00415	NULL
6103	23503098	Disease	p.Ala262Gly	VAR_008507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008507	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	419	COG5184	NULL
6103	23503098	Disease	p.Ala262Gly	VAR_008507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008507	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	3	pfam00415	NULL
6103	23503098	Disease	p.Gly267Glu	VAR_018063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018063	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	428	COG5184	NULL
6103	23503098	Disease	p.Gly267Glu	VAR_018063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018063	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	8	pfam00415	NULL
6103	23503098	Disease	p.Gly267Arg	VAR_026127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026127	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	428	COG5184	NULL
6103	23503098	Disease	p.Gly267Arg	VAR_026127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026127	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	8	pfam00415	NULL
6103	23503098	Disease	p.Gly275Ser	VAR_006852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006852	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	436	COG5184	NULL
6103	23503098	Disease	p.Gly275Ser	VAR_006852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006852	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	18	pfam00415	NULL
6103	23503098	Disease	p.Glu285Gly	VAR_026128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026128	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	457	COG5184	NULL
6103	23503098	Disease	p.Glu285Gly	VAR_026128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026128	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	46	pfam00415	NULL
6103	23503098	Disease	p.Ile289Val	VAR_013626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013626	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	461	COG5184	NULL
6103	23503098	Disease	p.Ile289Val	VAR_013626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013626	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	52	pfam00415	NULL
6103	23503098	Disease	p.Cys302Arg	VAR_011561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011561	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	475	COG5184	NULL
6103	23503098	Disease	p.Cys302Arg	VAR_011561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011561	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	81	pfam00415	NULL
6103	23503098	Disease	p.Cys302Tyr	VAR_018064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018064	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	475	COG5184	NULL
6103	23503098	Disease	p.Cys302Tyr	VAR_018064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018064	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	81	pfam00415	NULL
6103	23503098	Disease	p.Asp312Asn	VAR_018065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018065	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	485	COG5184	NULL
6103	23503098	Disease	p.Asp312Tyr	VAR_018066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018066	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	485	COG5184	NULL
6103	23503098	Disease	p.Gly320Arg	VAR_018067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018067	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	498	COG5184	NULL
6103	23503098	Disease	p.Gly320Arg	VAR_018067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018067	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	8	pfam00415	NULL
6103	23503098	Disease	p.Gly436Asp	VAR_008510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008510	- Retinitis pigmentosa type 3 (RP3) [MIM:300029]	SWISS	No Domain	N/A	NULL
57096	296452882	Disease	p.Ala547Ser	VAR_017831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017831	rs10151259 Cone-rod dystrophy type 13 (CORD13) [MIM:608194]	SWISS	No Domain	N/A	112734867,NP_065099
57096	296452882	Disease	p.Gly746Glu	VAR_017833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017833	- Leber congenital amaurosis type 6 (LCA6) [MIM:605446]	SWISS	171	pfam11618	112734867,NP_065099
57096	296452882	Disease	p.Arg827Leu	VAR_017834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017834	rs28937883 Cone-rod dystrophy type 13 (CORD13) [MIM:608194]	SWISS	57	cd00030	112734867,NP_065099
57096	296452882	Disease	p.Arg827Leu	VAR_017834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017834	rs28937883 Cone-rod dystrophy type 13 (CORD13) [MIM:608194]	SWISS	71	pfam00168	112734867,NP_065099
57096	296452882	Disease	p.Asp1114Gly	VAR_017836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017836	rs17103671 Leber congenital amaurosis type 6 (LCA6) [MIM:605446]	SWISS	No Domain	N/A	112734867,NP_065099
23322	296434514	Disease	p.Thr615Pro	VAR_039393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039393	- Joubert syndrome type 7 (JBTS7) [MIM:611560]	SWISS	41	pfam11618	118442834,NP_056087
23322	296434514	Disease	p.Ala695Pro	VAR_039395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039395	- Joubert syndrome type 7 (JBTS7) [MIM:611560]	SWISS	133	pfam11618	118442834,NP_056087
22934	156637353	Disease	p.Ala135Val	VAR_019122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019122	- Ribose 5-phosphate isomerase deficiency (RPI deficiency) [MIM:608611]	SWISS	77	cd01398	94536842,NP_653164
22934	156637353	Disease	p.Ala135Val	VAR_019122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019122	- Ribose 5-phosphate isomerase deficiency (RPI deficiency) [MIM:608611]	SWISS	77	cd00458	94536842,NP_653164
22934	156637353	Disease	p.Ala135Val	VAR_019122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019122	- Ribose 5-phosphate isomerase deficiency (RPI deficiency) [MIM:608611]	SWISS	70	COG0120	94536842,NP_653164
22934	156637353	Disease	p.Ala135Val	VAR_019122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019122	- Ribose 5-phosphate isomerase deficiency (RPI deficiency) [MIM:608611]	SWISS	10	pfam06026	94536842,NP_653164
6135	51702795	Disease	p.Leu20His	VAR_055448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055448	- Diamond-Blackfan anemia type 7 (DBA7) [MIM:612562]	SWISS	82	COG0094	15431290,NP_000966
6135	51702795	Disease	p.Leu20His	VAR_055448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055448	- Diamond-Blackfan anemia type 7 (DBA7) [MIM:612562]	SWISS	15	pfam00281	15431290,NP_000966
6165	22002061	Disease	p.Val33Ile	VAR_055447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055447	- Diamond-Blackfan anemia type 5 (DBA5) [MIM:612528]	SWISS	37	COG2451	16117791,NP_000987
6165	22002061	Disease	p.Val33Ile	VAR_055447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055447	- Diamond-Blackfan anemia type 5 (DBA5) [MIM:612528]	SWISS	33	pfam01247	16117791,NP_000987
6125	81175191	Disease	p.Gly140Ser	VAR_055450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055450	- Diamond-Blackfan anemia type 6 (DBA6) [MIM:612561]	SWISS	116	pfam00861	14591909,NP_000960
6125	81175191	Disease	p.Gly140Ser	VAR_055450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055450	- Diamond-Blackfan anemia type 6 (DBA6) [MIM:612561]	SWISS	152	cd00432	14591909,NP_000960
6125	81175191	Disease	p.Gly140Ser	VAR_055450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055450	- Diamond-Blackfan anemia type 6 (DBA6) [MIM:612561]	SWISS	128	COG0256	14591909,NP_000960
6125	81175191	Disease	p.Ala285Val	VAR_055451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055451	- Diamond-Blackfan anemia type 6 (DBA6) [MIM:612561]	SWISS	No Domain	N/A	14591909,NP_000960
6223	730640	Disease	p.Val15Phe	VAR_018438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018438	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	12	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Val15Phe	VAR_018438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018438	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	13	COG2238	4506695,NP_001013
6223	730640	Disease	p.Ala17Pro	VAR_046145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046145	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	14	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Ala17Pro	VAR_046145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046145	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	15	COG2238	4506695,NP_001013
6223	730640	Disease	p.Leu18Pro	VAR_018439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018439	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	15	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Leu18Pro	VAR_018439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018439	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	16	COG2238	4506695,NP_001013
6223	730640	Disease	p.Leu18Arg	VAR_046146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046146	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	15	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Leu18Arg	VAR_046146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046146	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	16	COG2238	4506695,NP_001013
6223	730640	Disease	p.Phe21Ser	VAR_055438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055438	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	18	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Phe21Ser	VAR_055438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055438	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	19	COG2238	4506695,NP_001013
6223	730640	Disease	p.Pro47Leu	VAR_018440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018440	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	45	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Pro47Leu	VAR_018440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018440	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	46	COG2238	4506695,NP_001013
6223	730640	Disease	p.Trp52Cys	VAR_055439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055439	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	52	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Trp52Cys	VAR_055439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055439	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	52	COG2238	4506695,NP_001013
6223	730640	Disease	p.Trp52Arg	VAR_018441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018441	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	52	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Trp52Arg	VAR_018441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018441	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	52	COG2238	4506695,NP_001013
6223	730640	Disease	p.Thr55Met	VAR_018442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018442	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	55	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Thr55Met	VAR_018442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018442	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	55	COG2238	4506695,NP_001013
6223	730640	Disease	p.Arg56Gln	VAR_018437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018437	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	56	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Arg56Gln	VAR_018437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018437	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	56	COG2238	4506695,NP_001013
6223	730640	Disease	p.Ala57Pro	VAR_055440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055440	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	57	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Ala57Pro	VAR_055440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055440	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	57	COG2238	4506695,NP_001013
6223	730640	Disease	p.Ser59Phe	VAR_046148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046148	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	59	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Ser59Phe	VAR_046148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046148	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	59	COG2238	4506695,NP_001013
6223	730640	Disease	p.Ala61Glu	VAR_018443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018443	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	61	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Ala61Glu	VAR_018443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018443	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	61	COG2238	4506695,NP_001013
6223	730640	Disease	p.Arg62Gln	VAR_018444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018444	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	62	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Arg62Gln	VAR_018444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018444	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	62	COG2238	4506695,NP_001013
6223	730640	Disease	p.Arg62Trp	VAR_006924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006924	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	62	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Arg62Trp	VAR_006924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006924	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	62	COG2238	4506695,NP_001013
6223	730640	Disease	p.Leu64Pro	VAR_055441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055441	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	64	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Leu64Pro	VAR_055441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055441	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	64	COG2238	4506695,NP_001013
6223	730640	Disease	p.Thr76Pro	VAR_055442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055442	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	77	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Thr76Pro	VAR_055442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055442	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	77	COG2238	4506695,NP_001013
6223	730640	Disease	p.Arg101His	VAR_018445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018445	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	106	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Arg101His	VAR_018445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018445	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	106	COG2238	4506695,NP_001013
6223	730640	Disease	p.Gly120Arg	VAR_018446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018446	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	131	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Gly120Arg	VAR_018446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018446	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	125	COG2238	4506695,NP_001013
6223	730640	Disease	p.Gly127Glu	VAR_055444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055444	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	138	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Gly127Glu	VAR_055444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055444	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	132	COG2238	4506695,NP_001013
6223	730640	Disease	p.Leu131Pro	VAR_018447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018447	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	142	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Leu131Pro	VAR_018447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018447	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	136	COG2238	4506695,NP_001013
6223	730640	Disease	p.Leu131Arg	VAR_046149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046149	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	142	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Leu131Arg	VAR_046149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046149	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	136	COG2238	4506695,NP_001013
6223	730640	Disease	p.Ala135Thr	VAR_055445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055445	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	146	pfam01090	4506695,NP_001013
6223	730640	Disease	p.Ala135Thr	VAR_055445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055445	- Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]	SWISS	140	COG2238	4506695,NP_001013
6231	51338650	Disease	p.Asp33Asn	VAR_063580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063580	- Diamond-Blackfan anemia type 10 (DBA10) [MIM:613309]	SWISS	33	COG4830	15011936,NP_001020
6231	51338650	Disease	p.Asp33Asn	VAR_063580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063580	- Diamond-Blackfan anemia type 10 (DBA10) [MIM:613309]	SWISS	35	pfam01283	15011936,NP_001020
6231	51338650	Disease	p.Met115Thr	VAR_063581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063581	- Diamond-Blackfan anemia type 10 (DBA10) [MIM:613309]	SWISS	No Domain	N/A	15011936,NP_001020
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd07832	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd05614	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd05122	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd08528	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd08529	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd08219	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd05616	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd05587	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd05615	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd05613	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd05583	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd07859	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd07841	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd08220	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd08215	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd08217	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd06626	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd06606	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd06631	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd07860	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd08223	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd06628	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd06627	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd08221	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd08225	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd08530	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd08222	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd05578	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd07839	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd08218	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd05632	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd05605	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd05631	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd05630	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd07861	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd07836	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd05045	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd06611	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd05114	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd05113	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd05100	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd06643	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd05033	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd05059	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd07870	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd05065	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd05112	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd05066	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	5	cd05611	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	5	cd05584	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	5	cd05582	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	8	cd07830	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd07840	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd06629	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	8	smart00219	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	8	cd07838	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	8	cd05118	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	pfam07714	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	8	pfam00069	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	8	smart00221	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd05079	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	8	cd07835	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd05080	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	8	cd05589	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	8	cd05075	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	8	cd05074	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd06616	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	8	cd05035	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd05081	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05594	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05042	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05058	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05619	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05592	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05604	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05602	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05571	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05620	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05595	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05085	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05060	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05603	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05591	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05590	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05588	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05618	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05617	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd00192	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05084	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05077	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05116	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05087	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05086	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd06632	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05044	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05078	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05593	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05040	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05041	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05575	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05570	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05047	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	31	cd06658	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	46	cd05055	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd07865	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	27	cd05098	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	2	cd05123	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05115	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	2	cd05572	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	2	cd05585	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	2	cd05586	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	2	cd05579	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	2	cd05607	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	2	cd05577	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	2	cd05608	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	2	cd00180	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	34	cd06635	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd05099	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd06650	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd06649	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05056	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05036	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd05051	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	68	cd05102	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	52	cd05622	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	52	cd05596	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	7	cd08227	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	29	cd06657	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	28	cd06647	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	24	cd05101	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	52	cd05621	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	24	cd06607	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	24	cd06634	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	28	cd06656	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	28	cd06655	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd06612	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd06653	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05071	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd06625	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd06652	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05069	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd05610	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd06651	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd07858	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05039	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	27	cd06638	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd05108	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd05043	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd05032	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd06620	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd06608	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd06642	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd06641	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd06640	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05083	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05034	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd05110	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	29	cd06654	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	18	cd06645	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	18	cd06646	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	31	cd06639	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	30	cd06659	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd05093	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd05103	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd05088	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05070	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd07845	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd05049	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd05111	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	27	cd05057	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd05109	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd05094	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd06624	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05072	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd07844	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	25	cd06636	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05626	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd07837	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd06617	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05623	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05599	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05625	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05148	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05089	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05609	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd08228	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd05581	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd08224	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd06610	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd08229	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd05574	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd07862	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05580	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	48	COG0515	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd07871	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd07848	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd07847	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05601	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05597	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05598	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05573	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05624	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05629	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05600	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd06619	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05612	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05627	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd06613	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd06621	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd06605	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd06623	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05628	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd05046	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd06615	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd05038	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	3	cd05633	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	3	cd05606	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd05064	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd05053	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05062	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd05048	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05052	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd05090	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd05095	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd06637	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd05091	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd05050	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05061	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05067	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05082	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05068	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd05092	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd05097	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	cd05063	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05073	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd06644	4759050,NP_004577
6197	1730070	Disease	p.Gly75Val	VAR_006189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006189	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	28	cd06648	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd07832	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd05614	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	23	cd05122	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd08528	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd08529	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd08219	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd05616	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd05587	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd05615	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd05613	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd05583	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14_G	cd07859	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd07841	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd08220	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd08215	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd08217	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd06626	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	23	cd06606	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd06631	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd07860	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd08223	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd06628	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd06627	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd08221	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd08225	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd08530	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd08222	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd05578	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd07839	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd08218	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd05632	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd05605	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd05631	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd05630	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd07861	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd07836	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd05045	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd06611	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	20	cd05114	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	20	cd05113	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	28	cd05100	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd06643	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	20	cd05033	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	20	cd05059	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd07870	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	20	cd05065	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	20	cd05112	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	20	cd05066	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd05611	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd05584	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd05582	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd07830	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	19	cd07840	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd06629	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	smart00219	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd07838	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05118	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	19	pfam07714	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	pfam00069	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	smart00221	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	20	cd05079	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd07835	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	20	cd05080	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05589	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05075	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05074	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	19_G	cd06616	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05035	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	20	cd05081	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05594	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05042	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05058	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05619	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05592	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05604	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05602	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05571	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05620	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05595	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05085	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05060	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05603	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05591	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05590	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05588	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05618	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05617	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd00192	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05084	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05077	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05116	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05087	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05086	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd06632	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05044	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05078	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05593	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05040	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05041	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05575	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05570	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05047	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	38	cd06658	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	53	cd05055	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	28	cd07865	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	34	cd05098	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd05123	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05115	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd05572	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd05585	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd05586	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd05579	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd05607	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd05577	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd05608	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd00180	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	41	cd06635	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	28	cd05099	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd06650	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	19_G	cd06649	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd05056	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd05036	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	29	cd05051	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	74	cd05102	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	59	cd05622	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	59	cd05596	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd08227	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	36	cd06657	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	35	cd06647	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	31	cd05101	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	59	cd05621	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	31	cd06607	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	31	cd06634	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	5	smart00220	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	35	cd06656	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	35	cd06655	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	19	cd06612	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	18	cd06653	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd05071	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	18	cd06625	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	18	cd06652	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd05069	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	20	cd05610	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	18	cd06651	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd07858	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd05039	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	34	cd06638	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	23	cd05108	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	23	cd05043	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	24	cd05032	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd06620	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd06608	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	20	cd06642	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	20	cd06641	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	20	cd06640	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd05083	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd05034	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	23	cd05110	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	36	cd06654	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	25	cd06645	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	25	cd06646	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	38	cd06639	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	37	cd06659	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd05093	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	23	cd05103	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	23	cd05088	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd05070	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	23	cd07845	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd05049	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	23	cd05111	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	34	cd05057	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	23	cd05109	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd05094	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	24	cd06624	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd05072	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd07844	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	32	cd06636	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd05626	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd07837	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15_G	cd06617	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd05623	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd05599	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd05625	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd05148	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	18	cd05089	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd05609	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	18	cd08228	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	24	cd05581	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	18	cd08224	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd06610	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	18	cd08229	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	20	cd05574	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd07862	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd05580	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	59	COG0515	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd07871	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd07848	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd07847	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd05601	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd05597	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd05598	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd05573	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd05624	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd05629	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd05600	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd06619	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd05612	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd05627	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	19	cd06613	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd06621	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd06605	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd06623	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd05628	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd05046	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd06615	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd05038	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05633	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05606	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd05064	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	28	cd05053	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd05062	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd05048	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd05052	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd05090	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd05095	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd06637	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd05091	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd05050	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd05061	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd05067	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd05082	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd05068	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd05092	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd05097	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd05063	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	22	cd05073	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	28	cd06644	4759050,NP_004577
6197	1730070	Disease	p.Val82Phe	VAR_006190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006190	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	35	cd06648	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45	cd07832	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	48	cd05614	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	61	cd05122	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	57	cd08528	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	49	cd08529	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	44	cd08219	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45	cd05616	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45	cd05587	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45	cd05615	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	50	cd05613	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	48	cd05583	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45	cd07859	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	48	cd07841	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd08220	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	63	cd08215	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45	cd08217	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	48	cd06626	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	107	cd06606	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	46	cd06631	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45	cd07860	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45	cd08223	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	49	cd06628	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	50	cd06627	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45	cd08221	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45	cd08225	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45	cd08530	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	49	cd08222	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45	cd05578	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	43	cd07839	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45	cd08218	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45	cd05632	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45	cd05605	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45	cd05631	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45	cd05630	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	43	cd07861	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	42	cd07836	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	50	cd05045	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	51_G	cd06611	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	48	cd05114	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	48	cd05113	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	65	cd05100	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd06643	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	75	cd05033	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	48	cd05059	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd07870	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	51	cd05065	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45_G	cd05112	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	51	cd05066	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	41	cd05611	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	50	cd05584	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	44	cd05582	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	79	cd07830	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	57	cd07840	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	53	cd06629	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	174	smart00219	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	48	cd07838	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd05118	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	72	pfam07714	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	pfam00069	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	240	smart00221	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	52	cd05079	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd07835	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	52	cd05080	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	44	cd05589	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	41	cd05075	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd05074	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd06616	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	57	cd05035	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	54	cd05081	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	41	cd05594	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	44	cd05042	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	49	cd05058	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	40	cd05619	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	40	cd05592	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	41	cd05604	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	41	cd05602	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	41	cd05571	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	40	cd05620	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	41	cd05595	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	39	cd05085	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd05060	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	41	cd05603	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	40	cd05591	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	40	cd05590	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	40	cd05588	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	40	cd05618	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	40	cd05617	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	96	cd00192	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	39	cd05084	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	49	cd05077	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	42	cd05116	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	41	cd05087	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	43	cd05086	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	54	cd06632	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45	cd05044	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	40	cd05078	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	41	cd05593	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd05040	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	40	cd05041	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	40	cd05575	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	40	cd05570	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	41	cd05047	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	64	cd06658	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	86	cd05055	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	51	cd07865	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	71	cd05098	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	68	cd05123	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	41	cd05115	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd05572	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	38	cd05585	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	39	cd05586	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	39	cd05579	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	38	cd05607	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	38	cd05577	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	38	cd05608	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	134	cd00180	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	74	cd06635	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	65	cd05099	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd06650	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd06649	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	80	cd05056	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05036	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	85	cd05051	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	104	cd05102	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	89	cd05622	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	89	cd05596	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45	cd08227	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	63	cd06657	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	62_G	cd06647	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	68	cd05101	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	89	cd05621	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	64	cd06607	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	64	cd06634	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	smart00220	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	62_G	cd06656	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	62	cd06655	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd06612	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	48	cd06653	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	50	cd05071	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	49	cd06625	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	50	cd06652	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	50	cd05069	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	53_G	cd05610	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	48	cd06651	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	51	cd07858	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	41	cd05039	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	61_G	cd06638	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	57	cd05108	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	70	cd05043	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	86	cd05032	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	52	cd06620	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd06608	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	48_G	cd06642	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	48_G	cd06641	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	48_G	cd06640	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	53	cd05083	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	50	cd05034	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05110	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	63_G	cd06654	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	53_G	cd06645	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	52	cd06646	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	69	cd06639	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	64	cd06659	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	54_G	cd05093	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	57	cd05103	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	53	cd05088	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	49_G	cd05070	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	41	cd07845	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	57	cd05049	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	57	cd05111	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	103	cd05057	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05109	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	54_G	cd05094	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	50	cd06624	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	50	cd05072	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	49	cd07844	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	59_G	cd06636	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd05626	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	46	cd07837	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45	cd06617	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd05623	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	46	cd05599	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd05625	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	51_G	cd05148	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	48	cd05089	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	46	cd05609	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	48	cd08228	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	93	cd05581	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	49	cd08224	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	41	cd06610	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	48	cd08229	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	62	cd05574	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd07862	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	94	cd05580	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	275	COG0515	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	49	cd07871	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	73	cd07848	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	46	cd07847	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd05601	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd05597	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	48	cd05598	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	71	cd05573	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd05624	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd05629	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	46	cd05600	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	68	cd06619	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd05612	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd05627	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	48	cd06613	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	51_G	cd06621	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	46	cd06605	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	53	cd06623	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	47	cd05628	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	114	cd05046	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	43	cd06615	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	54	cd05038	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	39	cd05633	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	39	cd05606	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	52	cd05064	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	57	cd05053	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05062	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	57	cd05048	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	51	cd05052	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	53	cd05090	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	68	cd05095	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	48	cd06637	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55_G	cd05091	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55_G	cd05050	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05061	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	49_G	cd05067	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	45_G	cd05082	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	50	cd05068	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	54_G	cd05092	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	65	cd05097	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	53	cd05063	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	49_G	cd05073	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	57_G	cd06644	4759050,NP_004577
6197	1730070	Disease	p.Arg114Trp	VAR_006191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006191	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd06648	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	65	cd07832	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	64	cd05614	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	75	cd05122	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	77	cd08528	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	62	cd08529	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	57	cd08219	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05616	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	65	cd05587	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	59	cd05615	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	63	cd05613	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	64	cd05583	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	58	cd07859	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	73	cd07841	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd08220	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	77	cd08215	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	58	cd08217	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	61	cd06626	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	123	cd06606	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	61	cd06631	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	58	cd07860	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	58	cd08223	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	67	cd06628	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	63	cd06627	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	58	cd08221	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	58	cd08225	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	59	cd08530	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	62	cd08222	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	59	cd05578	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	58	cd07839	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	58	cd08218	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	59	cd05632	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	59	cd05605	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	59	cd05631	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	59	cd05630	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	59	cd07861	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	57	cd07836	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	62	cd05045	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	63	cd06611	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	58	cd05114	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	58	cd05113	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	77	cd05100	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	61	cd06643	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	88	cd05033	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	58	cd05059	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	62	cd07870	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	64	cd05065	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	58	cd05112	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	64	cd05066	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	56	cd05611	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	63	cd05584	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	57	cd05582	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	92	cd07830	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	85	cd07840	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	67	cd06629	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	213	smart00219	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	66	cd07838	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	61	cd05118	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	94	pfam07714	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	91	pfam00069	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	289	smart00221	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	65	cd05079	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	64	cd07835	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	65	cd05080	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	61	cd05589	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	59	cd05075	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05074	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	69	cd06616	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	70	cd05035	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	64	cd05081	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	54	cd05594	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	57	cd05042	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	62	cd05058	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05619	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05592	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05604	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05602	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	54	cd05571	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05620	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	54	cd05595	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	52	cd05085	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05060	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05603	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05591	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05590	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05588	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05618	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05617	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	110	cd00192	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	52	cd05084	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	63	cd05077	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05116	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	54	cd05087	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	54	cd05086	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	68	cd06632	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	58	cd05044	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	58	cd05078	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	54	cd05593	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	58	cd05040	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	53	cd05041	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05575	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	57	cd05570	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05047	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	78	cd06658	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	100	cd05055	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	71	cd07865	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	83	cd05098	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	93	cd05123	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	54	cd05115	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	101	cd05572	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	52	cd05585	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05586	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	54	cd05579	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	52	cd05607	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	55	cd05577	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	52	cd05608	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	147	cd00180	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	84	cd06635	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	77	cd05099	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	62	cd06650	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	62	cd06649	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	95	cd05056	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	68	cd05036	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	100	cd05051	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	130	cd05102	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	102	cd05622	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	102	cd05596	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	58	cd08227	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	76	cd06657	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	75	cd06647	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	80	cd05101	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	102	cd05621	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	74	cd06607	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	74	cd06634	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	188	smart00220	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	75	cd06656	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	75	cd06655	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	69	cd06612	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	63	cd06653	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05071	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	63	cd06625	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	63	cd06652	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05069	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	64	cd05610	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	63	cd06651	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	64	cd07858	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	62	cd05039	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	74	cd06638	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	68	cd05108	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	82	cd05043	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	99	cd05032	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	62	cd06620	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd06608	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	61	cd06642	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	61	cd06641	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	61	cd06640	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	64_G	cd05083	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05034	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	68	cd05110	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	76	cd06654	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	65	cd06645	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	65	cd06646	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	85	cd06639	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	77	cd06659	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	66	cd05093	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	69	cd05103	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	67	cd05088	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05070	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	65	cd07845	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	67	cd05049	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	68	cd05111	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	117	cd05057	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	68	cd05109	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	66	cd05094	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	64	cd06624	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05072	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	62	cd07844	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	71	cd06636	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05626	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	59	cd07837	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	58	cd06617	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05623	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	65	cd05599	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05625	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	62	cd05148	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	62	cd05089	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05609	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	61	cd08228	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	111	cd05581	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	62	cd08224	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd06610	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	61	cd08229	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	80	cd05574	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	63	cd07862	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	108	cd05580	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	300	COG0515	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	62	cd07871	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	88	cd07848	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	59	cd07847	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05601	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05597	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	61	cd05598	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	114	cd05573	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05624	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05629	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	61	cd05600	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	79	cd06619	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05612	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05627	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	61	cd06613	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	61	cd06621	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd06605	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	78	cd06623	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05628	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	127	cd05046	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	58	cd06615	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	69	cd05038	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	56	cd05633	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	53	cd05606	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	65	cd05064	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	77	cd05053	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	68	cd05062	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	68	cd05048	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	61	cd05052	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	66	cd05090	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	81	cd05095	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	61	cd06637	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	67	cd05091	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	67	cd05050	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	68	cd05061	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05067	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	58	cd05082	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05068	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	66	cd05092	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	78	cd05097	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	66	cd05063	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	60	cd05073	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	68	cd06644	4759050,NP_004577
6197	1730070	Disease	p.His127Gln	VAR_006192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006192	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	75	cd06648	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	98	cd07832	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	91	cd05614	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	110	cd05122	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	107	cd08528	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	90	cd08529	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	84	cd08219	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd05616	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	92	cd05587	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd05615	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	91	cd05613	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	91	cd05583	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	89	cd07859	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	101	cd07841	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd08220	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	112	cd08215	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd08217	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	88	cd06626	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	161	cd06606	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	90	cd06631	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	84	cd07860	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	86	cd08223	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	94	cd06628	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	91	cd06627	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	85	cd08221	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	85	cd08225	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	88	cd08530	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	89	cd08222	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	86	cd05578	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	84	cd07839	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	85	cd08218	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	86	cd05632	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	86	cd05605	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	86	cd05631	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	86	cd05630	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	85	cd07861	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	83	cd07836	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	89	cd05045	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	93	cd06611	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	85	cd05114	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	85	cd05113	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	104	cd05100	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	88	cd06643	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	117	cd05033	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	85	cd05059	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	88	cd07870	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	91	cd05065	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	85	cd05112	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	91	cd05066	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	83	cd05611	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	90	cd05584	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	84	cd05582	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	126	cd07830	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	126	cd07840	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	94	cd06629	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	251	smart00219	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	109	cd07838	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	93	cd05118	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	140	pfam07714	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	147	pfam00069	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	381	smart00221	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	94	cd05079	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	91	cd07835	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	94	cd05080	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	88	cd05589	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	92	cd05075	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	93	cd05074	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	97	cd06616	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	103	cd05035	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	93	cd05081	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	81	cd05594	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	84	cd05042	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	90	cd05058	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	82	cd05619	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	82	cd05592	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	82	cd05604	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	82	cd05602	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	81	cd05571	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	82	cd05620	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	81	cd05595	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	79	cd05085	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	86	cd05060	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	82	cd05603	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	82	cd05591	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	82	cd05590	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	82	cd05588	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	82	cd05618	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	82	cd05617	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	148	cd00192	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	79	cd05084	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	92	cd05077	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	81	cd05116	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	81	cd05087	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	81	cd05086	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	105	cd06632	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	85	cd05044	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	85	cd05078	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	81	cd05593	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	86	cd05040	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	80	cd05041	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	82	cd05575	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	84	cd05570	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	82	cd05047	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	105	cd06658	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	127	cd05055	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	109	cd07865	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	110	cd05098	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	122	cd05123	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	80	cd05115	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	128	cd05572	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	79	cd05585	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	82	cd05586	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	81	cd05579	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	79	cd05607	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	82	cd05577	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	79	cd05608	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	284	cd00180	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	113	cd06635	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	104	cd05099	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	89	cd06650	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	89	cd06649	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	121	cd05056	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	95	cd05036	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	128	cd05051	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	157	cd05102	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	129	cd05622	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	129	cd05596	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	88	cd08227	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	103	cd06657	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	102	cd06647	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	107	cd05101	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	129	cd05621	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	103	cd06607	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	103	cd06634	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	314	smart00220	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	102	cd06656	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	102	cd06655	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	100	cd06612	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	92	cd06653	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	86	cd05071	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	92	cd06625	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	116	cd06652	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	86	cd05069	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	91	cd05610	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	92	cd06651	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	95	cd07858	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	90	cd05039	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	106	cd06638	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	94	cd05108	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	119	cd05043	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	128	cd05032	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	91	cd06620	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	128	cd06608	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	88	cd06642	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	88	cd06641	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	88	cd06640	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	84	cd05083	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	96	cd05034	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	94	cd05110	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	103	cd06654	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	92	cd06645	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	92	cd06646	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	117	cd06639	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	104	cd06659	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	93	cd05093	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	98	cd05103	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	94	cd05088	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	86	cd05070	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	93	cd07845	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	96	cd05049	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	94	cd05111	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	144	cd05057	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	94	cd05109	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	93	cd05094	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	96	cd06624	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd05072	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	88	cd07844	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	105	cd06636	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd05626	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	104	cd07837	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	88	cd06617	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd05623	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	92	cd05599	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd05625	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	89	cd05148	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	98	cd05089	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd05609	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	88	cd08228	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	138	cd05581	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	89	cd08224	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd06610	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	88	cd08229	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	107	cd05574	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	94	cd07862	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	135	cd05580	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	434	COG0515	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	88	cd07871	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	115	cd07848	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	86	cd07847	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd05601	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd05597	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	88	cd05598	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	141	cd05573	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd05624	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd05629	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	88	cd05600	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	108	cd06619	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd05612	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd05627	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	88	cd06613	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	90	cd06621	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	92	cd06605	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	110	cd06623	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd05628	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	154	cd05046	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	85	cd06615	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	104	cd05038	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	83	cd05633	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	84	cd05606	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	92	cd05064	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	104	cd05053	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	95	cd05062	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	95	cd05048	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	88	cd05052	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	93	cd05090	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	108	cd05095	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	95	cd06637	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	94	cd05091	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	94	cd05050	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	95	cd05061	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	86	cd05067	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	86	cd05082	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd05068	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	93	cd05092	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	105	cd05097	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	93	cd05063	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	87	cd05073	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	95	cd06644	4759050,NP_004577
6197	1730070	Disease	p.Asp154Tyr	VAR_006193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006193	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	102	cd06648	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	178	cd07832	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	163	cd05614	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	197	cd05122	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	180	cd08528	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	163	cd08529	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	157	cd08219	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	158	cd05616	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	163	cd05587	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	158	cd05615	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	176	cd05613	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	164	cd05583	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd07859	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	184	cd07841	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	167	cd08220	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	225	cd08215	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	228	cd08217	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd06626	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	247	cd06606	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	167	cd06631	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	156	cd07860	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	159	cd08223	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	173	cd06628	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	200	cd06627	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	161	cd08221	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	159	cd08225	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd08530	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	163	cd08222	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	163	cd05578	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd07839	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	158	cd08218	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	158	cd05632	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	158	cd05605	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	158	cd05631	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	158	cd05630	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	158	cd07861	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd07836	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	184	cd05045	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	162	cd06611	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd05114	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	156	cd05113	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	193	cd05100	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd06643	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	198	cd05033	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	156_G	cd05059	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd07870	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	166	cd05065	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd05112	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	163	cd05066	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	348	cd05611	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	161	cd05584	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd05582	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	231	cd07830	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	217	cd07840	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	170	cd06629	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	523	smart00219	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	203	cd07838	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	168	cd05118	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	334	pfam07714	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	286	pfam00069	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	696	smart00221	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd05079	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	183	cd07835	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	163	cd05080	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	158	cd05589	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	186	cd05075	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	172	cd05074	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	167_G	cd06616	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	182	cd05035	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	164	cd05081	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	153	cd05594	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	167	cd05042	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd05058	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	153	cd05619	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	169	cd05592	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	153	cd05604	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	153	cd05602	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	153	cd05571	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	168	cd05620	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	152	cd05595	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	148	cd05085	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	158	cd05060	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	153	cd05603	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	153	cd05591	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	153	cd05590	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	153	cd05588	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	153	cd05618	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	153	cd05617	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	385	cd00192	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	151	cd05084	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	168_G	cd05077	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	151	cd05116	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	164	cd05087	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	159	cd05086	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	179	cd06632	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	176	cd05044	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	164_G	cd05078	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	152	cd05593	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	164	cd05040	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	153	cd05041	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	153	cd05575	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd05570	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	169	cd05047	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	175	cd06658	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	294	cd05055	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	184	cd07865	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	199	cd05098	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	726	cd05123	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	154	cd05115	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	228	cd05572	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	150	cd05585	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	153	cd05586	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	700	cd05579	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	151	cd05607	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	157	cd05577	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	154	cd05608	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	617	cd00180	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	178	cd06635	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	193	cd05099	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	159	cd06650	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	159	cd06649	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	192	cd05056	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	177	cd05036	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	215	cd05051	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	238	cd05102	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	200	cd05622	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	203	cd05596	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	158	cd08227	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	173	cd06657	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	172	cd06647	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	196	cd05101	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	200	cd05621	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	168	cd06607	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	168	cd06634	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	633	smart00220	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	172	cd06656	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	172	cd06655	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	173	cd06612	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd06653	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	159	cd05071	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd06625	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	190	cd06652	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	159	cd05069	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	177	cd05610	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd06651	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	169	cd07858	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd05039	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	181	cd06638	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	166	cd05108	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	199	cd05043	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	221	cd05032	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	161	cd06620	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	200	cd06608	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	158	cd06642	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	158	cd06641	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	158	cd06640	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	154	cd05083	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	167	cd05034	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	168	cd05110	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	173	cd06654	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	163	cd06645	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	163	cd06646	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	192	cd06639	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	174	cd06659	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	179	cd05093	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	240	cd05103	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	181	cd05088	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	159	cd05070	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	179	cd07845	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	187_G	cd05049	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	167	cd05111	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	219	cd05057	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd05109	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	182	cd05094	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	171	cd06624	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd05072	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	161	cd07844	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	178	cd06636	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	205	cd05626	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	177	cd07837	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	162	cd06617	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd05623	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	372	cd05599	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	205	cd05625	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	168	cd05148	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	176	cd05089	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	171	cd05609	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	163	cd08228	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	394	cd05581	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	164	cd08224	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	179	cd06610	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	163	cd08229	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	187	cd05574	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	167	cd07862	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	218	cd05580	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	794	COG0515	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd07871	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	186	cd07848	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	163	cd07847	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	158	cd05601	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd05597	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	218	cd05598	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	295	cd05573	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd05624	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	219	cd05629	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	225	cd05600	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	173	cd06619	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd05612	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	193	cd05627	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd06613	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd06621	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	174	cd06605	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	206	cd06623	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	193	cd05628	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	241	cd05046	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	157	cd06615	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	187	cd05038	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	152	cd05633	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	153	cd05606	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	162	cd05064	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	209	cd05053	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	178	cd05062	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	186	cd05048	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	161	cd05052	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	183	cd05090	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	200	cd05095	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	168	cd06637	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	183	cd05091	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	192	cd05050	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	179	cd05061	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	159	cd05067	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	159	cd05082	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	163	cd05068	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	181	cd05092	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	190	cd05097	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd05063	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd05073	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	167	cd06644	4759050,NP_004577
6197	1730070	Disease	p.Ala225Val	VAR_006194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006194	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	173	cd06648	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	180	cd07832	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd05614	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	199	cd05122	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	182	cd08528	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd08529	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	159	cd08219	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd05616	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd05587	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd05615	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	178	cd05613	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	166	cd05583	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	170	cd07859	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	186	cd07841	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	169	cd08220	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	227	cd08215	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	230	cd08217	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	162	cd06626	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	275	cd06606	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	169	cd06631	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	158	cd07860	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	161	cd08223	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	175	cd06628	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	202	cd06627	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	163	cd08221	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	161	cd08225	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	167	cd08530	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd08222	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd05578	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	157	cd07839	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd08218	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd05632	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd05605	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd05631	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd05630	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd07861	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	162	cd07836	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	186	cd05045	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	164	cd06611	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	157	cd05114	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	158	cd05113	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	195	cd05100	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	162	cd06643	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	200	cd05033	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	159	cd05059	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	162	cd07870	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	168	cd05065	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	157	cd05112	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd05066	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	350	cd05611	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	163	cd05584	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	157	cd05582	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	234	cd07830	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	219	cd07840	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	172	cd06629	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	527	smart00219	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	205	cd07838	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	170	cd05118	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	336	pfam07714	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	288	pfam00069	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	720	smart00221	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	167	cd05079	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	185	cd07835	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd05080	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd05589	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	188	cd05075	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	174	cd05074	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	168	cd06616	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	184	cd05035	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	166	cd05081	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd05594	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	168_G	cd05042	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	162	cd05058	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd05619	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	171	cd05592	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd05604	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd05602	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd05571	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	170	cd05620	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	154	cd05595	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	150	cd05085	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd05060	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd05603	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd05591	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd05590	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd05588	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd05618	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd05617	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	387	cd00192	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	153	cd05084	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	168_G	cd05077	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	153	cd05116	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	166	cd05087	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	161	cd05086	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	181	cd06632	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	178	cd05044	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd05078	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	154	cd05593	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	166	cd05040	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd05041	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd05575	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	157	cd05570	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	171	cd05047	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	177	cd06658	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	296	cd05055	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	186	cd07865	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	201	cd05098	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	728	cd05123	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	156	cd05115	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	230	cd05572	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	152	cd05585	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd05586	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	702	cd05579	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	153	cd05607	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	159	cd05577	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	156	cd05608	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	619	cd00180	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	180	cd06635	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	195	cd05099	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	161	cd06650	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	161	cd06649	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	194	cd05056	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	179	cd05036	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	217	cd05051	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	239	cd05102	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	202	cd05622	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	203_G	cd05596	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	168	cd08227	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	175	cd06657	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	174	cd06647	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	198	cd05101	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	202	cd05621	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	170	cd06607	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	170	cd06634	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	652	smart00220	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	174	cd06656	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	174	cd06655	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	175	cd06612	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	168	cd06653	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	161	cd05071	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	168	cd06625	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	192	cd06652	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	161	cd05069	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	187	cd05610	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	168	cd06651	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	171	cd07858	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	167	cd05039	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	183	cd06638	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	168	cd05108	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	201	cd05043	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	223	cd05032	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	163	cd06620	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	202	cd06608	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd06642	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd06641	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	160	cd06640	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	156	cd05083	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	169	cd05034	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	170	cd05110	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	175	cd06654	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd06645	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd06646	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	194	cd06639	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	176	cd06659	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	181	cd05093	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	242	cd05103	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	183	cd05088	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	161	cd05070	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	181	cd07845	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	189	cd05049	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	169	cd05111	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	221	cd05057	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	167	cd05109	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	188	cd05094	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	173	cd06624	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	162	cd05072	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	163	cd07844	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	180	cd06636	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	207	cd05626	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	179	cd07837	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	164	cd06617	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	162	cd05623	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	374	cd05599	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	207	cd05625	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	168_G	cd05148	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	178	cd05089	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	173	cd05609	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd08228	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	396	cd05581	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	166	cd08224	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	181	cd06610	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd08229	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	256	cd05574	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	169	cd07862	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	220	cd05580	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	796	COG0515	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	162	cd07871	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	188	cd07848	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd07847	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	163	cd05601	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	162	cd05597	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	220	cd05598	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	297	cd05573	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	162	cd05624	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	221	cd05629	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	227	cd05600	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	174_G	cd06619	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	157	cd05612	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	195	cd05627	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	162	cd06613	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	168	cd06621	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	176	cd06605	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	213	cd06623	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	195	cd05628	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	243	cd05046	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	159	cd06615	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	189	cd05038	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	154	cd05633	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	155	cd05606	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	164	cd05064	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	211	cd05053	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	180	cd05062	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	188	cd05048	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	163	cd05052	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	185	cd05090	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	202	cd05095	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	170	cd06637	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	185	cd05091	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	194	cd05050	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	181	cd05061	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	161	cd05067	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	161	cd05082	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	165	cd05068	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	183	cd05092	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	192	cd05097	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	167	cd05063	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	162	cd05073	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	169	cd06644	4759050,NP_004577
6197	1730070	Disease	p.Ser227Ala	VAR_006195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006195	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	175	cd06648	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05608	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05123	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd06625	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05607	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	6	cd05602	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05586	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	6	cd05571	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05572	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05579	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd00180	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	5	cd05606	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	5	cd05633	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	6	cd05618	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	6	cd05617	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	4	cd05585	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	26	cd07879	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	26	cd07880	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	26	cd07851	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	33	cd06639	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	26	cd06618	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd07869	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd07849	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd06643	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	19	cd06624	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd07844	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05114	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd05068	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	20	cd06645	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	31	cd06654	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	33	cd07855	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd06628	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd07857	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd08528	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd07832	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd08223	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd08219	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd06627	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd08220	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd08530	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd07860	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd08218	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd08225	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd07863	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd07867	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd07842	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd07868	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd07861	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd08222	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05578	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd08215	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd08221	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd07836	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd07834	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05614	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd07853	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd06651	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05605	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05631	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05583	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05613	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05616	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05615	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd07859	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	18	cd05122	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05587	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05632	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd05630	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	32	cd07876	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	21	cd07856	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd08226	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	9	cd08216	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd07872	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd07873	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd05052	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	28	cd07877	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	32	cd06659	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	27	cd07850	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	16	cd07854	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	20	cd07866	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd05597	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd05580	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd07843	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd07846	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd06610	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd07833	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd07847	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	19	cd05581	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	53	COG0515	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd06640	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd06622	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd06623	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd05609	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd06917	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	12	cd05612	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd06609	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd08224	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd08229	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd08228	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	13	cd06653	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05112	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	35	cd07875	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	489	cd05610	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	smart00219	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	14	pfam07714	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05589	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	smart00221	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05118	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd07831	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	pfam00069	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd07829	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd07835	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	17	cd07858	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	18	cd07852	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	10	cd05584	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	6	cd05594	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd06630	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	11	cd06632	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	6	cd05084	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	6	cd05592	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	6	cd05575	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	6	cd05595	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	6	cd05620	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	6	cd05604	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	6	cd05619	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	6	cd05603	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	6	cd05588	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	6	cd05591	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	6	cd00192	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	6	cd05590	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	7	cd05582	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	18	cd07864	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	18	cd06606	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd06641	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd06642	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	33	cd06658	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	31	cd06614	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	24	cd06619	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	31	cd06657	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	23	cd06644	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	29	cd06638	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	15	cd05113	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	26	cd07878	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	28	cd07874	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	30	cd06648	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	30	cd06656	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	30	cd06655	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	30	cd06647	4759050,NP_004577
6197	1730070	Disease	p.Gly431Asp	VAR_006196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006196	- Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	32	cd06633	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	307	cd05602	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	346	cd05586	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	316	cd05571	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	322	cd05618	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	320	cd05617	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	303	cd05585	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	322	cd05614	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	369	cd07853	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	317	cd05616	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	316	cd05615	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	344	cd07859	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	322	cd05587	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	328	cd05597	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	1377	COG0515	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	318	cd05589	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	344	cd07858	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	315	cd05584	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	316	cd05594	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	326	cd05592	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	314	cd05575	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	315	cd05595	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	312	cd05620	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	303	cd05619	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	314	cd05603	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	320	cd05588	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	313	cd05591	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	311	cd05590	4759050,NP_004577
6197	1730070	Disease	p.Arg729Gln	VAR_006197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006197	rs28935171 Coffin-Lowry syndrome (CLS) [MIM:303600]	SWISS	312	cd05582	4759050,NP_004577
50484	74727333	Disease	p.Trp64Arg	VAR_046217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046217	- Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]	SWISS	33	cd01049	42544136,NP_056528
50484	74727333	Disease	p.Trp64Arg	VAR_046217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046217	- Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]	SWISS	33	pfam00268	42544136,NP_056528
50484	74727333	Disease	p.Trp64Arg	VAR_046217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046217	- Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]	SWISS	50	COG0208	42544136,NP_056528
50484	74727333	Disease	p.Glu194Gly	VAR_046219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046219	- Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]	SWISS	216	cd01049	42544136,NP_056528
50484	74727333	Disease	p.Glu194Gly	VAR_046219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046219	- Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]	SWISS	165	pfam00268	42544136,NP_056528
50484	74727333	Disease	p.Glu194Gly	VAR_046219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046219	- Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]	SWISS	216	COG0208	42544136,NP_056528
50484	74727333	Disease	p.Glu194Lys	VAR_046220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046220	- Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]	SWISS	216	cd01049	42544136,NP_056528
50484	74727333	Disease	p.Glu194Lys	VAR_046220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046220	- Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]	SWISS	165	pfam00268	42544136,NP_056528
50484	74727333	Disease	p.Glu194Lys	VAR_046220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046220	- Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]	SWISS	216	COG0208	42544136,NP_056528
50484	74727333	Disease	p.Ile224Ser	VAR_046221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046221	- Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]	SWISS	264	cd01049	42544136,NP_056528
50484	74727333	Disease	p.Ile224Ser	VAR_046221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046221	- Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]	SWISS	195	pfam00268	42544136,NP_056528
50484	74727333	Disease	p.Ile224Ser	VAR_046221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046221	- Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]	SWISS	247	COG0208	42544136,NP_056528
50484	74727333	Disease	p.Cys236Phe	VAR_046222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046222	- Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]	SWISS	276	cd01049	42544136,NP_056528
50484	74727333	Disease	p.Cys236Phe	VAR_046222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046222	- Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]	SWISS	207	pfam00268	42544136,NP_056528
50484	74727333	Disease	p.Cys236Phe	VAR_046222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046222	- Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]	SWISS	605	COG0208	42544136,NP_056528
50484	74727333	Disease	p.Met282Ile	VAR_046223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046223	- Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]	SWISS	695	cd01049	42544136,NP_056528
50484	74727333	Disease	p.Met282Ile	VAR_046223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046223	- Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]	SWISS	266	pfam00268	42544136,NP_056528
50484	74727333	Disease	p.Met282Ile	VAR_046223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046223	- Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]	SWISS	663	COG0208	42544136,NP_056528
50484	74727333	Disease	p.Leu317Val	VAR_046224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046224	- Encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT) [MIM:612075]	SWISS	703	COG0208	42544136,NP_056528
6247	6686080	Disease	p.Leu12His	VAR_008209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008209	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	No Domain	N/A	10835083,NP_000321
6247	6686080	Disease	p.Leu13Pro	VAR_008210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008210	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	No Domain	N/A	10835083,NP_000321
6247	6686080	Disease	p.Cys59Ser	VAR_008211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008211	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	No Domain	N/A	10835083,NP_000321
6247	6686080	Disease	p.Tyr65Cys	VAR_008212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008212	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	2	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Gly70Ala	VAR_008213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008213	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	4	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Gly70Ala	VAR_008213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008213	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	11	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Gly70Ser	VAR_008214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008214	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	4	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Gly70Ser	VAR_008214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008214	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	11	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Glu72Asp	VAR_008180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008180	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	6	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Glu72Asp	VAR_008180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008180	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	13	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Glu72Lys	VAR_008181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008181	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	6	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Glu72Lys	VAR_008181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008181	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	13	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Gly74Val	VAR_008182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008182	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	8	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Gly74Val	VAR_008182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008182	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	15	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Tyr89Cys	VAR_008215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008215	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	24	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Tyr89Cys	VAR_008215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008215	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	56	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Tyr89Cys	VAR_008215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008215	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	12	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Trp96Arg	VAR_008183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008183	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	31	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Trp96Arg	VAR_008183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008183	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	63	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Trp96Arg	VAR_008183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008183	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	24	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Ala98Glu	VAR_008216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008216	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	33	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Ala98Glu	VAR_008216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008216	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	67	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Ala98Glu	VAR_008216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008216	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	26	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Arg102Gln	VAR_008217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008217	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	39	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Arg102Gln	VAR_008217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008217	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	73	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Arg102Gln	VAR_008217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008217	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	30	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Arg102Trp	VAR_008184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008184	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	39	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Arg102Trp	VAR_008184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008184	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	73	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Arg102Trp	VAR_008184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008184	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	30	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Leu103Arg	VAR_008218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008218	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	40	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Leu103Arg	VAR_008218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008218	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	76	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Leu103Arg	VAR_008218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008218	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	31	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Phe108Cys	VAR_008219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008219	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	52	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Phe108Cys	VAR_008219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008219	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	86	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Phe108Cys	VAR_008219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008219	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	39	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Gly109Glu	VAR_008220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008220	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	53	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Gly109Glu	VAR_008220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008220	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	95	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Gly109Glu	VAR_008220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008220	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	51	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Gly109Arg	VAR_008185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008185	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	53	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Gly109Arg	VAR_008185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008185	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	95	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Gly109Arg	VAR_008185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008185	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	51	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Gly109Trp	VAR_008221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008221	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	53	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Gly109Trp	VAR_008221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008221	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	95	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Gly109Trp	VAR_008221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008221	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	51	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Cys110Tyr	VAR_008222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008222	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	54	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Cys110Tyr	VAR_008222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008222	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	96	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Cys110Tyr	VAR_008222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008222	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	52	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Trp112Cys	VAR_008223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008223	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	56	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Trp112Cys	VAR_008223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008223	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	102	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Trp112Cys	VAR_008223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008223	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	54	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Leu113Phe	VAR_008224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008224	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	57	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Leu113Phe	VAR_008224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008224	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	106	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Leu113Phe	VAR_008224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008224	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	55	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Leu127Pro	VAR_008225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008225	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	77	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Leu127Pro	VAR_008225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008225	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	148	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Leu127Pro	VAR_008225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008225	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	81	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Gly135Val	VAR_008226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008226	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	85	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Gly135Val	VAR_008226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008226	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	162	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Gly135Val	VAR_008226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008226	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	90	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Ile136Thr	VAR_008227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008227	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	86	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Ile136Thr	VAR_008227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008227	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	164	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Ile136Thr	VAR_008227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008227	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	91	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Thr138Ala	VAR_008228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008228	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	88	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Thr138Ala	VAR_008228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008228	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	168	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Thr138Ala	VAR_008228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008228	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	93	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Gly140Glu	VAR_008229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008229	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	90	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Gly140Glu	VAR_008229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008229	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	173	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Gly140Glu	VAR_008229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008229	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	95	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Gly140Arg	VAR_008230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008230	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	90	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Gly140Arg	VAR_008230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008230	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	173	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Gly140Arg	VAR_008230	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008230	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	95	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Arg141Cys	VAR_008231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008231	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	91	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Arg141Cys	VAR_008231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008231	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	176	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Arg141Cys	VAR_008231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008231	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	96	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Arg141Gly	VAR_008232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008232	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	91	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Arg141Gly	VAR_008232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008232	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	176	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Arg141Gly	VAR_008232	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008232	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	96	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Arg141His	VAR_008233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008233	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	91	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Arg141His	VAR_008233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008233	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	176	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Arg141His	VAR_008233	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008233	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	96	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Cys142Trp	VAR_008234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008234	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	92	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Cys142Trp	VAR_008234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008234	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	181	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Cys142Trp	VAR_008234	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008234	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	99	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Asp143Val	VAR_008235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008235	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	93	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Asp143Val	VAR_008235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008235	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	183	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Asp143Val	VAR_008235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008235	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	100	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Glu146Asp	VAR_008236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008236	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	100	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Glu146Asp	VAR_008236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008236	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	191	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Glu146Asp	VAR_008236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008236	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	114	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Glu146Lys	VAR_008237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008237	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	100	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Glu146Lys	VAR_008237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008237	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	191	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Glu146Lys	VAR_008237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008237	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	114	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Tyr155Cys	VAR_008238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008238	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	109	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Tyr155Cys	VAR_008238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008238	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	225	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Tyr155Cys	VAR_008238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008238	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	123	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Trp163Cys	VAR_008240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008240	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	118	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Trp163Cys	VAR_008240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008240	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	255	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Trp163Cys	VAR_008240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008240	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	140	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Gly178Asp	VAR_008241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008241	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	181	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Gly178Asp	VAR_008241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008241	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	302	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Gly178Asp	VAR_008241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008241	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	162	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Arg182Cys	VAR_008242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008242	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	185	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Arg182Cys	VAR_008242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008242	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	307	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Arg182Cys	VAR_008242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008242	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	166	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Pro192Arg	VAR_008243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008243	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	195	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Pro192Arg	VAR_008243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008243	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	322	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Pro192Arg	VAR_008243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008243	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	185	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Pro192Ser	VAR_008244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008244	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	195	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Pro192Ser	VAR_008244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008244	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	322	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Pro192Ser	VAR_008244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008244	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	185	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Pro193Leu	VAR_008245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008245	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	196	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Pro193Leu	VAR_008245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008245	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	323	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Pro193Leu	VAR_008245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008245	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	186	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Pro193Ser	VAR_008246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008246	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	196	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Pro193Ser	VAR_008246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008246	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	323	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Pro193Ser	VAR_008246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008246	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	186	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Arg197Cys	VAR_008247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008247	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	200	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Arg197Cys	VAR_008247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008247	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	329	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Arg197Cys	VAR_008247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008247	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	195	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Arg197His	VAR_008248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008248	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	200	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Arg197His	VAR_008248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008248	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	329	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Arg197His	VAR_008248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008248	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	195	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Ile199Thr	VAR_008249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008249	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	202	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Ile199Thr	VAR_008249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008249	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	331	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Ile199Thr	VAR_008249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008249	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	197	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Arg200Cys	VAR_008251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008251	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	203	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Arg200Cys	VAR_008251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008251	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	332	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Arg200Cys	VAR_008251	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008251	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	198	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Arg200His	VAR_008252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008252	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	203	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Arg200His	VAR_008252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008252	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	332	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Arg200His	VAR_008252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008252	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	198	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Pro203Leu	VAR_008253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008253	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	206	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Pro203Leu	VAR_008253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008253	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	335	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Pro203Leu	VAR_008253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008253	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	201	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.His207Gln	VAR_008254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008254	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	210	cd00057	10835083,NP_000321
6247	6686080	Disease	p.His207Gln	VAR_008254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008254	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	351	smart00231	10835083,NP_000321
6247	6686080	Disease	p.His207Gln	VAR_008254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008254	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	217	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Arg209His	VAR_008255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008255	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	216	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Arg209His	VAR_008255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008255	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	354	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Arg209His	VAR_008255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008255	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	219	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Arg213Trp	VAR_008256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008256	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	221	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Arg213Trp	VAR_008256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008256	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	368	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Arg213Trp	VAR_008256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008256	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	223	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Glu215Lys	VAR_008257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008257	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	223	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Glu215Lys	VAR_008257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008257	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	371	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Glu215Lys	VAR_008257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008257	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	225	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Glu215Gln	VAR_008258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008258	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	223	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Glu215Gln	VAR_008258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008258	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	371	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Glu215Gln	VAR_008258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008258	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	225	pfam00754	10835083,NP_000321
6247	6686080	Disease	p.Leu216Pro	VAR_008259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008259	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	224	cd00057	10835083,NP_000321
6247	6686080	Disease	p.Leu216Pro	VAR_008259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008259	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	372	smart00231	10835083,NP_000321
6247	6686080	Disease	p.Cys219Gly	VAR_008260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008260	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	No Domain	N/A	10835083,NP_000321
6247	6686080	Disease	p.Cys219Arg	VAR_008261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008261	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	No Domain	N/A	10835083,NP_000321
6247	6686080	Disease	p.Cys223Arg	VAR_008262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008262	- X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]	SWISS	No Domain	N/A	10835083,NP_000321
345895	74746178	Disease	p.Pro87Ser	VAR_055235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055235	- Primary ciliary dyskinesia type 11 (CILD11) [MIM:612649]	SWISS	No Domain	N/A	58219006,NP_001010892
343637	97189858	Disease	p.Gln65Arg	VAR_030399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030399	- Anonychia congenita (ANONC) [MIM:206800]	SWISS	No Domain	N/A	83722284,NP_001025042
343637	97189858	Disease	p.Cys95Phe	VAR_030400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030400	- Anonychia congenita (ANONC) [MIM:206800]	SWISS	24	smart00261	83722284,NP_001025042
343637	97189858	Disease	p.Cys95Phe	VAR_030400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030400	- Anonychia congenita (ANONC) [MIM:206800]	SWISS	13	cd00064	83722284,NP_001025042
343637	97189858	Disease	p.Cys107Arg	VAR_030401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030401	- Anonychia congenita (ANONC) [MIM:206800]	SWISS	62	smart00261	83722284,NP_001025042
343637	97189858	Disease	p.Cys107Arg	VAR_030401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030401	- Anonychia congenita (ANONC) [MIM:206800]	SWISS	44	cd00064	83722284,NP_001025042
343637	97189858	Disease	p.Cys118Tyr	VAR_030402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030402	- Anonychia congenita (ANONC) [MIM:206800]	SWISS	102	smart00261	83722284,NP_001025042
343637	97189858	Disease	p.Cys118Tyr	VAR_030402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030402	- Anonychia congenita (ANONC) [MIM:206800]	SWISS	66	cd00064	83722284,NP_001025042
861	215274205	Disease	p.Arg139Gln	VAR_012128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012128	- Familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399]	SWISS	94	pfam00853	49574546,NP_001001890
861	215274205	Disease	p.Arg174Gln	VAR_012129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012129	- Familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399]	SWISS	129	pfam00853	49574546,NP_001001890
860	17368460	Disease	p.Leu113Arg	VAR_012132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012132	- Cleidocranial dysplasia (CLCD) [MIM:119600]	SWISS	17	pfam00853	226442783,NP_001019801
860	17368460	Disease	p.Ser118Arg	VAR_012133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012133	- Cleidocranial dysplasia (CLCD) [MIM:119600]	SWISS	22	pfam00853	226442783,NP_001019801
860	17368460	Disease	p.Phe121Cys	VAR_012134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012134	- Cleidocranial dysplasia (CLCD) [MIM:119600]	SWISS	25	pfam00853	226442783,NP_001019801
860	17368460	Disease	p.Cys123Arg	VAR_012135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012135	- Cleidocranial dysplasia (CLCD) [MIM:119600]	SWISS	27	pfam00853	226442783,NP_001019801
860	17368460	Disease	p.Arg169Gln	VAR_012137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012137	- Cleidocranial dysplasia (CLCD) [MIM:119600]	SWISS	73	pfam00853	226442783,NP_001019801
860	17368460	Disease	p.Met175Arg	VAR_012138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012138	- Cleidocranial dysplasia (CLCD) [MIM:119600]	SWISS	79	pfam00853	226442783,NP_001019801
860	17368460	Disease	p.Arg190Gln	VAR_012139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012139	- Cleidocranial dysplasia (CLCD) [MIM:119600]	SWISS	94	pfam00853	226442783,NP_001019801
860	17368460	Disease	p.Arg190Trp	VAR_012140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012140	- Cleidocranial dysplasia (CLCD) [MIM:119600]	SWISS	94	pfam00853	226442783,NP_001019801
860	17368460	Disease	p.Ser191Asn	VAR_012141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012141	- Cleidocranial dysplasia (CLCD) [MIM:119600]	SWISS	95	pfam00853	226442783,NP_001019801
860	17368460	Disease	p.Arg193Cys	VAR_012142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012142	- Cleidocranial dysplasia (CLCD) [MIM:119600]	SWISS	97	pfam00853	226442783,NP_001019801
860	17368460	Disease	p.Phe197Ser	VAR_012143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012143	- Cleidocranial dysplasia (CLCD) [MIM:119600]	SWISS	101	pfam00853	226442783,NP_001019801
860	17368460	Disease	p.Leu199Phe	VAR_012144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012144	- Cleidocranial dysplasia (CLCD) [MIM:119600]	SWISS	103	pfam00853	226442783,NP_001019801
860	17368460	Disease	p.Thr200Ala	VAR_012145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012145	- Cleidocranial dysplasia (CLCD) [MIM:119600]	SWISS	104	pfam00853	226442783,NP_001019801
860	17368460	Disease	p.Thr205Arg	VAR_012146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012146	- Cleidocranial dysplasia (CLCD) [MIM:119600]	SWISS	109	pfam00853	226442783,NP_001019801
860	17368460	Disease	p.Gln209Arg	VAR_012147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012147	- Cleidocranial dysplasia (CLCD) [MIM:119600]	SWISS	113	pfam00853	226442783,NP_001019801
860	17368460	Disease	p.Arg225Gln	VAR_012148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012148	- Cleidocranial dysplasia (CLCD) [MIM:119600]	SWISS	129	pfam00853	226442783,NP_001019801
860	17368460	Disease	p.Arg225Trp	VAR_012149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012149	- Cleidocranial dysplasia (CLCD) [MIM:119600]	SWISS	129	pfam00853	226442783,NP_001019801
860	17368460	Disease	p.Gly511Ser	VAR_012150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012150	- Cleidocranial dysplasia (CLCD) [MIM:119600]	SWISS	119	pfam08504	226442783,NP_001019801
122042	21362625	Disease	p.Thr222Pro	VAR_015386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015386	rs28939382 Cryptorchidism [MIM:219050]	SWISS	No Domain	N/A	18677729,NP_570718
6261	108935904	Disease	p.Leu13Arg	VAR_058560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058560	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	6	pfam08709	113204615,NP_000531
6261	108935904	Disease	p.Leu13Val	VAR_045694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045694	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	6	pfam08709	113204615,NP_000531
6261	108935904	Disease	p.Cys35Arg	VAR_005589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005589	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	32	pfam08709	113204615,NP_000531
6261	108935904	Disease	p.Arg44Cys	VAR_045695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045695	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	41	pfam08709	113204615,NP_000531
6261	108935904	Disease	p.Arg44Cys	VAR_045695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045695	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	41	pfam08709	113204615,NP_000531
6261	108935904	Disease	p.Arg109Trp	VAR_032910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032910	- Multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320]	SWISS	14	smart00472	113204615,NP_000531
6261	108935904	Disease	p.Arg109Trp	VAR_032910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032910	- Multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320]	SWISS	138	pfam08709	113204615,NP_000531
6261	108935904	Disease	p.Glu160Gly	VAR_045696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045696	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	2	smart00472	113204615,NP_000531
6261	108935904	Disease	p.Glu160Gly	VAR_045696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045696	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	191	pfam08709	113204615,NP_000531
6261	108935904	Disease	p.Arg163Cys	VAR_005590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005590	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	5	smart00472	113204615,NP_000531
6261	108935904	Disease	p.Arg163Cys	VAR_005590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005590	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	194	pfam08709	113204615,NP_000531
6261	108935904	Disease	p.Arg163Cys	VAR_005590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005590	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	5	smart00472	113204615,NP_000531
6261	108935904	Disease	p.Arg163Cys	VAR_005590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005590	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	194	pfam08709	113204615,NP_000531
6261	108935904	Disease	p.Arg163Leu	VAR_045697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045697	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	5	smart00472	113204615,NP_000531
6261	108935904	Disease	p.Arg163Leu	VAR_045697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045697	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	194	pfam08709	113204615,NP_000531
6261	108935904	Disease	p.Gly165Arg	VAR_045698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045698	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	7	smart00472	113204615,NP_000531
6261	108935904	Disease	p.Gly165Arg	VAR_045698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045698	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	196	pfam08709	113204615,NP_000531
6261	108935904	Disease	p.Asp166Asn	VAR_045699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045699	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	9	smart00472	113204615,NP_000531
6261	108935904	Disease	p.Asp166Asn	VAR_045699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045699	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	197	pfam08709	113204615,NP_000531
6261	108935904	Disease	p.Arg177Cys	VAR_045700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045700	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	23	smart00472	113204615,NP_000531
6261	108935904	Disease	p.Arg177Cys	VAR_045700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045700	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	215	pfam08709	113204615,NP_000531
6261	108935904	Disease	p.Tyr178Cys	VAR_045701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045701	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	24	smart00472	113204615,NP_000531
6261	108935904	Disease	p.Tyr178Cys	VAR_045701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045701	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	216	pfam08709	113204615,NP_000531
6261	108935904	Disease	p.Gly215Glu	VAR_045702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045702	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	6	smart00472	113204615,NP_000531
6261	108935904	Disease	p.Gly215Glu	VAR_045702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045702	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	5	pfam02815	113204615,NP_000531
6261	108935904	Disease	p.Met226Lys	VAR_058561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058561	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	19	smart00472	113204615,NP_000531
6261	108935904	Disease	p.Met226Lys	VAR_058561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058561	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	23	pfam02815	113204615,NP_000531
6261	108935904	Disease	p.Asp227Val	VAR_045703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045703	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	21	smart00472	113204615,NP_000531
6261	108935904	Disease	p.Asp227Val	VAR_045703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045703	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	24	pfam02815	113204615,NP_000531
6261	108935904	Disease	p.Gly248Arg	VAR_005591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005591	rs1801086 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	81	smart00472	113204615,NP_000531
6261	108935904	Disease	p.Gly248Arg	VAR_005591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005591	rs1801086 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	56	pfam02815	113204615,NP_000531
6261	108935904	Disease	p.Arg328Trp	VAR_045704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045704	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	239	pfam02815	113204615,NP_000531
6261	108935904	Disease	p.Arg328Trp	VAR_045704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045704	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	73	smart00472	113204615,NP_000531
6261	108935904	Disease	p.Gly341Arg	VAR_005592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005592	rs28933997 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	252	pfam02815	113204615,NP_000531
6261	108935904	Disease	p.Gly341Arg	VAR_005592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005592	rs28933997 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	91	smart00472	113204615,NP_000531
6261	108935904	Disease	p.Arg367Leu	VAR_058562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058562	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	278	pfam02815	113204615,NP_000531
6261	108935904	Disease	p.Arg401Cys	VAR_045705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045705	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Arg401His	VAR_045706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045706	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Arg401Ser	VAR_045707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045707	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Ile403Met	VAR_005593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005593	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Ile403Met	VAR_005593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005593	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Tyr522Ser	VAR_005595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005595	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	110	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Tyr522Ser	VAR_005595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005595	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	110	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Arg530His	VAR_058563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058563	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	118	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Arg533Cys	VAR_045708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045708	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	121	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Arg533His	VAR_008971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008971	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	121	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Asp544Tyr	VAR_058564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058564	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	132	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Arg552Trp	VAR_005596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005596	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	143	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Arg614Cys	VAR_005597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005597	rs28933996 Central core disease of muscle (CCD) [MIM:117000]	SWISS	210	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Arg614Cys	VAR_005597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005597	rs28933996 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	210	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Arg614Leu	VAR_005598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005598	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	210	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Arg1043Cys	VAR_058565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058565	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	117	pfam02026	113204615,NP_000531
6261	108935904	Disease	p.Ala1352Gly	VAR_058566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058566	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Gly1704Ser	VAR_045709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045709	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Val2117Leu	VAR_045712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045712	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Asp2129Glu	VAR_045713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045713	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Arg2163Cys	VAR_005601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005601	rs28933998 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	7	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Arg2163His	VAR_005602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005602	rs28933999 Central core disease of muscle (CCD) [MIM:117000]	SWISS	7	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Arg2163His	VAR_005602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005602	rs28933999 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	7	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Arg2163Pro	VAR_008972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008972	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	7	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Val2168Met	VAR_005603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005603	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	12	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Val2168Met	VAR_005603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005603	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	12	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Thr2206Met	VAR_005604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005604	rs28934000 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	53	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Thr2206Arg	VAR_008973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008973	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	53	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Val2214Ile	VAR_045714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045714	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	61	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Val2280Ile	VAR_045715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045715	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	160	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Arg2336His	VAR_058568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058568	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	219	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Asn2342Ser	VAR_045716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045716	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	225	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Glu2344Asp	VAR_045717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045717	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	227	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Val2346Met	VAR_045718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045718	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	229	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Glu2348Gly	VAR_045720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045720	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	231	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Ala2350Thr	VAR_045721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045721	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	233	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Arg2355Cys	VAR_045722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045722	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	238	pfam01365	113204615,NP_000531
6261	108935904	Disease	p.Ala2367Thr	VAR_045723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045723	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Glu2404Lys	VAR_058569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058569	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Ala2421Pro	VAR_045724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045724	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Met2423Lys	VAR_032915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032915	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Met2423Lys	VAR_032915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032915	- Multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Ala2428Thr	VAR_045725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045725	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Asp2431Asn	VAR_045726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045726	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Gly2434Arg	VAR_005605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005605	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Arg2435His	VAR_005606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005606	rs28933396 Central core disease of muscle (CCD) [MIM:117000]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Arg2435His	VAR_005606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005606	rs28933396 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Arg2435Leu	VAR_008974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008974	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Ala2437Val	VAR_045727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045727	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Arg2452Trp	VAR_045728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045728	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Arg2454Cys	VAR_008975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008975	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Arg2454His	VAR_008976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008976	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Arg2454His	VAR_008976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008976	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Arg2458Cys	VAR_008977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008977	rs28933397 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Arg2458His	VAR_008978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008978	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Arg2676Trp	VAR_045729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045729	rs28934001 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Asp2730Gly	VAR_058571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058571	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Thr2787Ser	VAR_045730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045730	rs35180584 Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	90	pfam02026	113204615,NP_000531
6261	108935904	Disease	p.Glu2880Lys	VAR_058572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058572	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	45	pfam02026	113204615,NP_000531
6261	108935904	Disease	p.Ser3217Pro	VAR_058573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058573	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Glu3290Lys	VAR_058574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058574	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Pro3527Ser	VAR_045732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045732	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Arg3539His	VAR_045733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045733	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Arg3772Gln	VAR_045734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045734	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Arg3772Trp	VAR_058576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058576	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Gly3806Arg	VAR_058577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058577	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Ile3916Met	VAR_045735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045735	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	57	pfam08454	113204615,NP_000531
6261	108935904	Disease	p.Arg4136Ser	VAR_045736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045736	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Val4234Leu	VAR_045738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045738	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Pro4501Leu	VAR_058578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058578	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	141	pfam06459	113204615,NP_000531
6261	108935904	Disease	p.Arg4558Gln	VAR_045739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045739	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	226	pfam06459	113204615,NP_000531
6261	108935904	Disease	p.Thr4637Ala	VAR_045740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045740	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	337	pfam06459	113204615,NP_000531
6261	108935904	Disease	p.Gly4638Asp	VAR_045742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045742	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	338	pfam06459	113204615,NP_000531
6261	108935904	Disease	p.Leu4650Pro	VAR_045744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045744	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	351	pfam06459	113204615,NP_000531
6261	108935904	Disease	p.His4651Pro	VAR_045745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045745	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	352	pfam06459	113204615,NP_000531
6261	108935904	Disease	p.Phe4684Ser	VAR_045747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045747	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Lys4724Gln	VAR_045748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045748	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Arg4737Gln	VAR_045749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045749	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Arg4737Trp	VAR_045750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045750	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Leu4793Pro	VAR_045751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045751	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	51	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Tyr4796Cys	VAR_045752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045752	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	54	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Leu4814Phe	VAR_045753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045753	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	143	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Leu4824Pro	VAR_045754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045754	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	157	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Arg4825Cys	VAR_045755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045755	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	158	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Thr4826Ile	VAR_045756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045756	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	159	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Leu4838Val	VAR_045757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045757	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	177	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Val4842Met	VAR_045758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045758	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	181	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Ala4846Val	VAR_045759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045759	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	185	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Val4849Ile	VAR_045760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045760	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	188	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Val4849Ile	VAR_045760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045760	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	188	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Arg4861Cys	VAR_045762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045762	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	200	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Arg4861His	VAR_045763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045763	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	200	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Tyr4864Cys	VAR_045765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045765	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	203	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Lys4876Arg	VAR_045766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045766	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	320	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Gly4891Arg	VAR_045767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045767	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	335	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Arg4893Gln	VAR_045768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045768	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	337	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Arg4893Trp	VAR_045769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045769	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	337	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Gly4897Val	VAR_045770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045770	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	341	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Ile4898Thr	VAR_045771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045771	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	342	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Gly4899Glu	VAR_045772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045772	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	345	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Gly4899Arg	VAR_045773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045773	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	345	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Ala4906Val	VAR_045774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045774	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	376	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Arg4914Gly	VAR_045775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045775	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	384	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Arg4914Thr	VAR_045776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045776	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	384	pfam00520	113204615,NP_000531
6261	108935904	Disease	p.Ile4938Met	VAR_045778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045778	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Ile4938Thr	VAR_058579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058579	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Asp4939Glu	VAR_045779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045779	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Ala4940Thr	VAR_045780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045780	- Central core disease of muscle (CCD) [MIM:117000]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Gly4942Val	VAR_045781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045781	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6261	108935904	Disease	p.Pro4973Leu	VAR_045782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045782	- Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]	SWISS	No Domain	N/A	113204615,NP_000531
6262	308153558	Disease	p.Pro164Ser	VAR_044086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044086	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	182	pfam08709	112799847,NP_001026
6262	308153558	Disease	p.Arg176Gln	VAR_044087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044087	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	194	pfam08709	112799847,NP_001026
6262	308153558	Disease	p.Arg176Gln	VAR_044087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044087	- Familial arrhythmogenic right ventricular dysplasia type 2 (ARVD2) [MIM:600996]	SWISS	194	pfam08709	112799847,NP_001026
6262	308153558	Disease	p.Arg414Leu	VAR_044088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044088	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Ile419Phe	VAR_044089	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044089	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Arg420Trp	VAR_044090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044090	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Leu433Pro	VAR_011395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011395	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Leu433Pro	VAR_011395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011395	- Familial arrhythmogenic right ventricular dysplasia type 2 (ARVD2) [MIM:600996]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Ser2246Leu	VAR_011396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011396	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	159	pfam01365	112799847,NP_001026
6262	308153558	Disease	p.Val2306Ile	VAR_023694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023694	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	222	pfam01365	112799847,NP_001026
6262	308153558	Disease	p.Glu2311Asp	VAR_044092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044092	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	227	pfam01365	112799847,NP_001026
6262	308153558	Disease	p.Pro2328Ser	VAR_011397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011397	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	244	pfam01365	112799847,NP_001026
6262	308153558	Disease	p.Asn2386Ile	VAR_011398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011398	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Asn2386Ile	VAR_011398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011398	- Familial arrhythmogenic right ventricular dysplasia type 2 (ARVD2) [MIM:600996]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Ala2387Pro	VAR_044093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044093	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Tyr2392Cys	VAR_044094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044094	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Ala2403Thr	VAR_044095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044095	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Arg2474Ser	VAR_011399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011399	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Thr2504Met	VAR_044096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044096	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Thr2504Met	VAR_044096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044096	- Familial arrhythmogenic right ventricular dysplasia type 2 (ARVD2) [MIM:600996]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Leu3778Phe	VAR_044097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044097	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Gly3946Ser	VAR_044098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044098	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	137	pfam08454	112799847,NP_001026
6262	308153558	Disease	p.Asn4097Ser	VAR_044099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044099	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Asn4104Lys	VAR_011400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011400	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Glu4146Lys	VAR_044100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044100	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Thr4158Pro	VAR_044101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044101	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Gln4201Arg	VAR_011401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011401	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Arg4497Cys	VAR_011402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011402	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	226	pfam06459	112799847,NP_001026
6262	308153558	Disease	p.Phe4499Cys	VAR_044102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044102	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	228	pfam06459	112799847,NP_001026
6262	308153558	Disease	p.Met4504Ile	VAR_044103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044103	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	233	pfam06459	112799847,NP_001026
6262	308153558	Disease	p.Ala4510Thr	VAR_044104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044104	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	239	pfam06459	112799847,NP_001026
6262	308153558	Disease	p.Ala4607Pro	VAR_044105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044105	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Val4653Phe	VAR_011403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011403	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Gly4671Arg	VAR_044106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044106	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Val4771Ile	VAR_044107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044107	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	181	pfam00520	112799847,NP_001026
6262	308153558	Disease	p.Ile4848Val	VAR_044108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044108	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	389	pfam00520	112799847,NP_001026
6262	308153558	Disease	p.Ala4860Gly	VAR_044109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044109	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	401	pfam00520	112799847,NP_001026
6262	308153558	Disease	p.Ile4867Met	VAR_044110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044110	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Val4880Ala	VAR_044111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044111	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Asn4895Asp	VAR_044112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044112	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Pro4902Leu	VAR_023695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023695	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Glu4950Lys	VAR_044113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044113	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
6262	308153558	Disease	p.Arg4959Gln	VAR_023696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023696	- Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) [MIM:604772]	SWISS	No Domain	N/A	112799847,NP_001026
57167	24212387	Disease	p.His888Arg	VAR_033054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033054	- Duane-radial ray syndrome (DRRS) [MIM:607323]	SWISS	28	pfam00096	10047144,NP_065169
57167	24212387	Disease	p.His888Arg	VAR_033054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033054	- Duane-radial ray syndrome (DRRS) [MIM:607323]	SWISS	28	smart00355	10047144,NP_065169
25939	22257047	Disease	p.His123Pro	VAR_058481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058481	- Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]	SWISS	11	COG1078	38016914,NP_056289
25939	22257047	Disease	p.Arg143Cys	VAR_058482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058482	- Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]	SWISS	35	COG1078	38016914,NP_056289
25939	22257047	Disease	p.Arg143His	VAR_058483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058483	- Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]	SWISS	35	COG1078	38016914,NP_056289
25939	22257047	Disease	p.Arg145Gln	VAR_058484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058484	- Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]	SWISS	37	COG1078	38016914,NP_056289
25939	22257047	Disease	p.Ile201Asn	VAR_058485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058485	- Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]	SWISS	56	cd00077	38016914,NP_056289
25939	22257047	Disease	p.Ile201Asn	VAR_058485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058485	- Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]	SWISS	53	pfam01966	38016914,NP_056289
25939	22257047	Disease	p.Ile201Asn	VAR_058485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058485	- Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]	SWISS	110	smart00471	38016914,NP_056289
25939	22257047	Disease	p.Ile201Asn	VAR_058485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058485	- Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]	SWISS	128	COG1078	38016914,NP_056289
25939	22257047	Disease	p.Gly209Ser	VAR_058486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058486	- Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]	SWISS	64	cd00077	38016914,NP_056289
25939	22257047	Disease	p.Gly209Ser	VAR_058486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058486	- Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]	SWISS	61	pfam01966	38016914,NP_056289
25939	22257047	Disease	p.Gly209Ser	VAR_058486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058486	- Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]	SWISS	118	smart00471	38016914,NP_056289
25939	22257047	Disease	p.Gly209Ser	VAR_058486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058486	- Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]	SWISS	136	COG1078	38016914,NP_056289
25939	22257047	Disease	p.Met254Val	VAR_058487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058487	- Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]	SWISS	116	cd00077	38016914,NP_056289
25939	22257047	Disease	p.Met254Val	VAR_058487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058487	- Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]	SWISS	142	pfam01966	38016914,NP_056289
25939	22257047	Disease	p.Met254Val	VAR_058487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058487	- Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]	SWISS	256	smart00471	38016914,NP_056289
25939	22257047	Disease	p.Met254Val	VAR_058487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058487	- Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]	SWISS	186	COG1078	38016914,NP_056289
25939	22257047	Disease	p.Leu369Ser	VAR_058488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058488	- Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]	SWISS	331	COG1078	38016914,NP_056289
25939	22257047	Disease	p.Met385Val	VAR_058489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058489	- Aicardi-Goutieres syndrome type 5 (AGS5) [MIM:612952]	SWISS	347	COG1078	38016914,NP_056289
51128	14285769	Disease	p.Gly11Asp	VAR_059051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059051	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	9	cd00879	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly11Asp	VAR_059051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059051	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	2	cd04153	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly11Asp	VAR_059051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059051	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	5_G	smart00178	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	11	pfam08477	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	11	cd04158	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	11	cd04156	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	11	cd04151	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	11	cd00878	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	11	cd04159	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	11	cd04162	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	12	cd04150	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	11	cd04157	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	11	cd04160	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	29	pfam00025	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	11	cd04161	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	38	COG1100	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	35	cd00879	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	12	cd00154	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	12	cd04105	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	25	smart00177	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	30	cd04154	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	27	cd04155	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	21	cd04149	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	8	cd00880	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	8	cd00882	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	27	cd04153	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	15	cd04152	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Gly37Arg	VAR_016806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016806	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	29	smart00178	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	78	pfam08477	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	50	cd04158	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	53	cd04156	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	49	cd04151	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	118	cd00878	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	63	cd04159	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	50	cd04162	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	50	cd04150	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	53	cd04157	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	77	cd04160	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	75	pfam00025	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	50	cd04161	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	169	COG1100	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	73	cd00879	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	190	cd00154	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	100	cd04105	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	63	smart00177	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	77	cd04154	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	75	cd04155	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	59	cd04149	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	121	cd00880	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	303	cd00882	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	71	cd04153	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	59	cd04152	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp75Gly	VAR_059052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059052	- Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	67	smart00178	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	112	cd04158	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	116	cd04156	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	111	cd04151	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	189	cd00878	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	185	cd04159	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	113	cd04162	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	114	cd04150	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	124	cd04157	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	159	cd04160	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	142	pfam00025	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	113	cd04161	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	302	COG1100	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	136	cd00879	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	316	cd00154	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	197	cd04105	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	125	smart00177	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	142	cd04154	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	137	cd04155	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	121	cd04149	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	311	cd00880	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	518	cd00882	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	134	cd04153	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	121	cd04152	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Asp137Asn	VAR_016807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016807	rs28942109 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	129	smart00178	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	175	cd04158	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	147	cd04156	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	143	cd04151	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	281	cd00878	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	297	cd04159	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	158	cd04162	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	145	cd04150	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	155	cd04157	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	240	cd04160	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	185	pfam00025	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	147	cd04161	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	372	COG1100	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	184	cd00879	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	295	cd04105	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	155	smart00177	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	189	cd04154	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	167	cd04155	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	152	cd04149	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	374	cd00880	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	635	cd00882	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	168	cd04153	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	260	cd04152	75709204,NP_001028675|7705827,NP_057187
51128	14285769	Disease	p.Ser179Arg	VAR_016808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016808	rs28942110 Chylomicron retention disease (CMRD) [MIM:246700]	SWISS	174	smart00178	75709204,NP_001028675|7705827,NP_057187
9733	74762140	Disease	p.Val591Met	VAR_038683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038683	- Disseminated superficial actinic porokeratosis type 1 (DSAP1) [MIM:175900]	SWISS	8	COG0724	7661952,NP_055521
51119	28380824	Disease	p.Asn8Lys	VAR_015390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015390	rs28942099 Shwachman-Diamond syndrome (SDS) [MIM:260400]	SWISS	No Domain	N/A	28416940,NP_057122
51119	28380824	Disease	p.Glu44Gly	VAR_015391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015391	- Shwachman-Diamond syndrome (SDS) [MIM:260400]	SWISS	69	pfam01172	28416940,NP_057122
51119	28380824	Disease	p.Glu44Gly	VAR_015391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015391	- Shwachman-Diamond syndrome (SDS) [MIM:260400]	SWISS	37	COG1500	28416940,NP_057122
51119	28380824	Disease	p.Lys67Glu	VAR_015392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015392	- Shwachman-Diamond syndrome (SDS) [MIM:260400]	SWISS	105	pfam01172	28416940,NP_057122
51119	28380824	Disease	p.Lys67Glu	VAR_015392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015392	- Shwachman-Diamond syndrome (SDS) [MIM:260400]	SWISS	60	COG1500	28416940,NP_057122
51119	28380824	Disease	p.Ile87Ser	VAR_015393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015393	- Shwachman-Diamond syndrome (SDS) [MIM:260400]	SWISS	134	pfam01172	28416940,NP_057122
51119	28380824	Disease	p.Ile87Ser	VAR_015393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015393	- Shwachman-Diamond syndrome (SDS) [MIM:260400]	SWISS	80	COG1500	28416940,NP_057122
51119	28380824	Disease	p.Arg126Thr	VAR_015394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015394	- Shwachman-Diamond syndrome (SDS) [MIM:260400]	SWISS	21	pfam09377	28416940,NP_057122
51119	28380824	Disease	p.Arg126Thr	VAR_015394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015394	- Shwachman-Diamond syndrome (SDS) [MIM:260400]	SWISS	120	COG1500	28416940,NP_057122
51119	28380824	Disease	p.Arg169Cys	VAR_015395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015395	- Shwachman-Diamond syndrome (SDS) [MIM:260400]	SWISS	114	pfam09377	28416940,NP_057122
51119	28380824	Disease	p.Arg169Cys	VAR_015395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015395	- Shwachman-Diamond syndrome (SDS) [MIM:260400]	SWISS	165	COG1500	28416940,NP_057122
51119	28380824	Disease	p.Ile212Thr	VAR_015396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015396	- Shwachman-Diamond syndrome (SDS) [MIM:260400]	SWISS	220	pfam09377	28416940,NP_057122
51119	28380824	Disease	p.Ile212Thr	VAR_015396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015396	- Shwachman-Diamond syndrome (SDS) [MIM:260400]	SWISS	212	COG1500	28416940,NP_057122
6309	124053650	Disease	p.Arg29Gln	VAR_014423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014423	- Lathosterolosis [MIM:607330]	SWISS	19	COG3000	68160941,NP_008849|68160945,NP_001020127
6309	124053650	Disease	p.Tyr46Ser	VAR_020829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020829	- Lathosterolosis [MIM:607330]	SWISS	44	COG3000	68160941,NP_008849|68160945,NP_001020127
6309	124053650	Disease	p.Gly211Asp	VAR_014424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014424	- Lathosterolosis [MIM:607330]	SWISS	175	pfam04116	68160941,NP_008849|68160945,NP_001020127
6309	124053650	Disease	p.Gly211Asp	VAR_014424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014424	- Lathosterolosis [MIM:607330]	SWISS	241	COG3000	68160941,NP_008849|68160945,NP_001020127
6323	12644229	Disease	p.Glu78Asp	VAR_029660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029660	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Arg101Gln	VAR_029661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029661	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Ser103Gly	VAR_029662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029662	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Thr112Ile	VAR_029663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029663	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Arg118Ser	VAR_043350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043350	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Met145Thr	VAR_025366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025366	- Familial febrile convulsions type 3 (FEB3) [MIM:604403]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Gly177Glu	VAR_029664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029664	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	22	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Asp188Val	VAR_014267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014267	- Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604233]	SWISS	51	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Trp190Arg	VAR_029665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029665	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	53	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Ile227Ser	VAR_029666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029666	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	147	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Ala239Thr	VAR_043352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043352	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	168	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Ile252Asn	VAR_029667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029667	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	182	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Gly265Trp	VAR_029668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029668	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	195	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Trp280Arg	VAR_029669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029669	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	210	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Thr297Ile	VAR_029670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029670	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	227	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Gly343Glu	VAR_029671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029671	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	303	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Asp366Glu	VAR_043353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043353	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	326	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Arg377Gln	VAR_043354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043354	- Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604233]	SWISS	337	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Arg393His	VAR_029672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029672	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	378	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Tyr426Asn	VAR_029673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029673	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Tyr790Cys	VAR_029675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029675	- Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604233]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Thr808Ser	VAR_029676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029676	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	7	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Thr875Met	VAR_010110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010110	- Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604233]	SWISS	152	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Phe902Cys	VAR_029677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029677	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	189	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Arg931Cys	VAR_029678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029678	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	322	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Met934Ile	VAR_029679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029679	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	325	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.His939Gln	VAR_029680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029680	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	330	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Val944Ala	VAR_029681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029681	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	335	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Arg946Cys	VAR_029682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029682	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	337	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Arg946His	VAR_029683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029683	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	337	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Arg946Ser	VAR_057995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057995	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	337	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Cys959Arg	VAR_029684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029684	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	351	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Met960Val	VAR_029685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029685	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	352	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Gly979Arg	VAR_029686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029686	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	395	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Val983Ala	VAR_029687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029687	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	399	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Asn985Ile	VAR_029688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029688	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	401	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Leu986Phe	VAR_014268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014268	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	402	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Asn1011Ile	VAR_029689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029689	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	6	pfam06512	260166633,NP_001159435
6323	12644229	Disease	p.Trp1204Arg	VAR_014270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014270	- Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604233]	SWISS	418	pfam06512	260166633,NP_001159435
6323	12644229	Disease	p.Leu1207Pro	VAR_043360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043360	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	421	pfam06512	260166633,NP_001159435
6323	12644229	Disease	p.Ser1231Arg	VAR_029692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029692	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Gly1233Arg	VAR_029693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029693	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Glu1238Asp	VAR_043361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043361	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Phe1263Leu	VAR_029694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029694	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	10	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Leu1265Pro	VAR_029695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029695	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	12	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Lys1270Thr	VAR_014271	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014271	- Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604233]	SWISS	17	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Ala1326Pro	VAR_029698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029698	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	146	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Val1335Met	VAR_043362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043362	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	159	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Val1353Leu	VAR_014272	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014272	- Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604233]	SWISS	183	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Leu1355Pro	VAR_029697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029697	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	185	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Trp1358Ser	VAR_043363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043363	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	188	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Val1366Ile	VAR_043364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043364	- Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604233]	SWISS	196	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Val1366Ile	VAR_043364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043364	- Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]	SWISS	196	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Val1390Met	VAR_029699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029699	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	220	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Val1428Ala	VAR_029700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029700	- Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604233]	SWISS	338	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Trp1434Arg	VAR_029701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029701	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	344	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Gln1450Arg	VAR_029702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029702	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	375	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Leu1461Ile	VAR_029703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029703	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	386	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Tyr1462Cys	VAR_043365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043365	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	387	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Phe1463Ser	VAR_029704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029704	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	388	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Gln1489His	VAR_057996	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057996	- Familial hemiplegic migraine type 3 (FHM3) [MIM:609634]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Gln1489Lys	VAR_025281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025281	- Familial hemiplegic migraine type 3 (FHM3) [MIM:609634]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Phe1499Leu	VAR_057997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057997	- Familial hemiplegic migraine type 3 (FHM3) [MIM:609634]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Val1611Phe	VAR_029706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029706	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	60	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Pro1632Ser	VAR_029707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029707	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	123	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Arg1648Cys	VAR_029708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029708	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	145	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Arg1648His	VAR_010111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010111	- Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604233]	SWISS	145	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Ile1656Met	VAR_014273	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014273	- Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604233]	SWISS	157	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Arg1657Cys	VAR_029709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029709	- Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604233]	SWISS	158	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Phe1661Ser	VAR_029710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029710	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	167	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Pro1668Ala	VAR_029711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029711	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	175	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Gly1674Arg	VAR_029712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029712	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	181	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Tyr1684Cys	VAR_029713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029713	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	191	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Ala1685Asp	VAR_029714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029714	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	192	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Ala1685Val	VAR_029715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029715	- Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604233]	SWISS	192	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Phe1692Ser	VAR_029716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029716	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	199	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Thr1709Ile	VAR_029717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029717	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	327	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Asp1742Gly	VAR_057998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057998	- Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604233]	SWISS	360	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Gly1749Glu	VAR_029718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029718	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	371	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Met1780Thr	VAR_029720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029720	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	402	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Tyr1781Cys	VAR_029721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029721	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	403	pfam00520	260166633,NP_001159435
6323	12644229	Disease	p.Phe1808Leu	VAR_029723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029723	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Trp1812Gly	VAR_029724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029724	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Phe1831Ser	VAR_029726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029726	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Met1852Thr	VAR_029727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029727	- Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604233]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Val1857Leu	VAR_057999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057999	- Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604233]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Asp1866Tyr	VAR_058000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058000	- Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604233]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Glu1881Asp	VAR_029728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029728	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Thr1909Ile	VAR_029729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029729	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	No Domain	N/A	260166633,NP_001159435
6323	12644229	Disease	p.Arg1928Gly	VAR_043371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043371	- Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]	SWISS	15	smart00015	260166633,NP_001159435
6324	1705868	Disease	p.Cys121Trp	VAR_010165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010165	- Generalized epilepsy with febrile seizures plus type 1 (GEFS+1) [MIM:604233]	SWISS	90	pfam00047	4506805,NP_001028
6324	1705868	Disease	p.Cys121Trp	VAR_010165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010165	- Generalized epilepsy with febrile seizures plus type 1 (GEFS+1) [MIM:604233]	SWISS	100	cd05715	4506805,NP_001028
6326	25014053	Disease	p.Arg188Trp	VAR_029733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029733	- Generalized epilepsy with febrile seizures plus (GEFS+) [MIM:604233]	SWISS	50	pfam00520	93141212,NP_001035232|93141210,NP_066287
6326	25014053	Disease	p.Arg223Gln	VAR_029734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029734	- Benign familial infantile convulsions type 3 (BFIC3) [MIM:607745]	SWISS	139	pfam00520	93141212,NP_001035232|93141210,NP_066287
6326	25014053	Disease	p.Val892Ile	VAR_029737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029737	- Benign familial infantile convulsions type 3 (BFIC3) [MIM:607745]	SWISS	188	pfam00520	93141212,NP_001035232|93141210,NP_066287
6326	25014053	Disease	p.Leu1003Ile	VAR_029738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029738	- Benign familial infantile convulsions type 3 (BFIC3) [MIM:607745]	SWISS	7	pfam06512	93141212,NP_001035232|93141210,NP_066287
6326	25014053	Disease	p.Arg1319Gln	VAR_029739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029739	- Benign familial infantile convulsions type 3 (BFIC3) [MIM:607745]	SWISS	149	pfam00520	93141212,NP_001035232|93141210,NP_066287
6326	25014053	Disease	p.Leu1330Phe	VAR_029740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029740	- Benign familial infantile convulsions type 3 (BFIC3) [MIM:607745]	SWISS	169	pfam00520	93141212,NP_001035232|93141210,NP_066287
6326	25014053	Disease	p.Leu1563Val	VAR_029741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029741	- Benign familial infantile convulsions type 3 (BFIC3) [MIM:607745]	SWISS	No Domain	N/A	93141212,NP_001035232|93141210,NP_066287
55800	12229762	Disease	p.Leu10Pro	VAR_062529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062529	- Brugada syndrome type 7 (BRS7) [MIM:613120]	SWISS	No Domain	N/A	9055238,NP_060870|93587332,NP_001035241
6329	292495096	Disease	p.Ile141Val	VAR_054934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054934	- Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]	SWISS	No Domain	N/A	93587342,NP_000325
6329	292495096	Disease	p.Arg222Trp	VAR_054935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054935	- Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]	SWISS	133	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Gln270Lys	VAR_054936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054936	- Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]	SWISS	197	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Val445Met	VAR_017786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017786	- Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]	SWISS	406	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Glu452Lys	VAR_054937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054937	- Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]	SWISS	No Domain	N/A	93587342,NP_000325
6329	292495096	Disease	p.Arg669His	VAR_017788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017788	- Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]	SWISS	130	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Phe671Ser	VAR_054938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054938	- Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]	SWISS	132	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Arg672Cys	VAR_054939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054939	- Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]	SWISS	133	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Arg672Gly	VAR_017789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017789	- Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]	SWISS	133	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Arg672His	VAR_017790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017790	- Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]	SWISS	133	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Arg672Ser	VAR_017791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017791	- Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]	SWISS	133	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Arg675Gly	VAR_037104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037104	- Periodic paralysis normokalemic (NKPP) [MIM:170500]	SWISS	139	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Arg675Gln	VAR_037105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037105	- Periodic paralysis normokalemic (NKPP) [MIM:170500]	SWISS	139	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Arg675Trp	VAR_037106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037106	- Periodic paralysis normokalemic (NKPP) [MIM:170500]	SWISS	139	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Thr704Met	VAR_001562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001562	- Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]	SWISS	181	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Thr704Met	VAR_001562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001562	- Periodic paralysis hyperkalemic (HYPP) [MIM:170500]	SWISS	181	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Ala715Thr	VAR_054940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054940	- Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]	SWISS	192	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Val781Ile	VAR_054941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054941	- Periodic paralysis hyperkalemic (HYPP) [MIM:170500]	SWISS	387	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Val781Ile	VAR_054941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054941	- Periodic paralysis normokalemic (NKPP) [MIM:170500]	SWISS	387	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Ser804Phe	VAR_001563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001563	- Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]	SWISS	No Domain	N/A	93587342,NP_000325
6329	292495096	Disease	p.Ser804Asn	VAR_054942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054942	- Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]	SWISS	No Domain	N/A	93587342,NP_000325
6329	292495096	Disease	p.Arg1132Gln	VAR_054943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054943	- Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]	SWISS	139	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Arg1135His	VAR_054944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054944	- Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]	SWISS	142	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Ala1152Asp	VAR_022341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022341	- Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]	SWISS	168	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Ala1156Thr	VAR_001565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001565	- Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]	SWISS	173	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Ala1156Thr	VAR_001565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001565	- Periodic paralysis hyperkalemic (HYPP) [MIM:170500]	SWISS	173	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Pro1158Ser	VAR_017792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017792	- Periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]	SWISS	175	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Ile1160Val	VAR_017793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017793	- Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]	SWISS	177	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Val1293Ile	VAR_001566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001566	- Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]	SWISS	406	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Asn1297Lys	VAR_054945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054945	- Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]	SWISS	No Domain	N/A	93587342,NP_000325
6329	292495096	Disease	p.Gly1306Ala	VAR_001567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001567	- Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]	SWISS	No Domain	N/A	93587342,NP_000325
6329	292495096	Disease	p.Gly1306Glu	VAR_001568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001568	- Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]	SWISS	No Domain	N/A	93587342,NP_000325
6329	292495096	Disease	p.Gly1306Glu	VAR_001568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001568	- Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]	SWISS	No Domain	N/A	93587342,NP_000325
6329	292495096	Disease	p.Gly1306Val	VAR_001569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001569	- Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]	SWISS	No Domain	N/A	93587342,NP_000325
6329	292495096	Disease	p.Gly1306Val	VAR_001569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001569	- Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]	SWISS	No Domain	N/A	93587342,NP_000325
6329	292495096	Disease	p.Ile1310Asn	VAR_054946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054946	- Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]	SWISS	No Domain	N/A	93587342,NP_000325
6329	292495096	Disease	p.Thr1313Met	VAR_001570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001570	- Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]	SWISS	No Domain	N/A	93587342,NP_000325
6329	292495096	Disease	p.Leu1433Arg	VAR_001571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001571	- Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]	SWISS	70	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Leu1433Arg	VAR_001571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001571	- Periodic paralysis hyperkalemic (HYPP) [MIM:170500]	SWISS	70	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Leu1436Pro	VAR_054947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054947	- Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]	SWISS	73	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Val1442Glu	VAR_017795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017795	- A congenital myasthenic syndrome SCNA4-related (CMS-SCNA4) [MIM:603967]	SWISS	121	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Arg1448Cys	VAR_001572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001572	- Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]	SWISS	127	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Arg1448His	VAR_001573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001573	- Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]	SWISS	127	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Arg1448Leu	VAR_054948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054948	- Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]	SWISS	127	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Gly1456Glu	VAR_037107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037107	- Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]	SWISS	135	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Phe1473Ser	VAR_054949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054949	- Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]	SWISS	167	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Met1476Ile	VAR_054950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054950	- Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]	SWISS	170	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Ala1481Asp	VAR_054951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054951	- Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]	SWISS	176	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Val1589Met	VAR_001574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001574	- Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]	SWISS	399	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Met1592Val	VAR_001575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001575	- Periodic paralysis hyperkalemic (HYPP) [MIM:170500]	SWISS	402	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Met1592Val	VAR_001575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001575	- Periodic paralysis normokalemic (NKPP) [MIM:170500]	SWISS	402	pfam00520	93587342,NP_000325
6329	292495096	Disease	p.Phe1705Ile	VAR_054952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054952	- Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]	SWISS	No Domain	N/A	93587342,NP_000325
6330	57012701	Disease	p.Leu179Phe	VAR_043488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043488	- Long QT syndrome type 10 (LQT10) [MIM:611819]	SWISS	No Domain	N/A	28372555,NP_777594
6331	215273881	Disease	p.Gly9Val	VAR_036660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036660	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Arg27His	VAR_026341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026341	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Arg43Gln	VAR_055159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055159	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Val95Ile	VAR_055160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055160	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Lys126Glu	VAR_026343	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026343	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Glu161Lys	VAR_026344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026344	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	3	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Glu161Lys	VAR_026344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026344	- Progressive familial heart block type 1A (PFHB1A) [MIM:113900]	SWISS	3	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Thr187Ile	VAR_026345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026345	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	47	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Leu212Pro	VAR_055162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055162	- Progressive familial heart block type 1A (PFHB1A) [MIM:113900]	SWISS	72	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Ser216Leu	VAR_055163	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055163	rs41276525 Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	127	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Thr220Ile	VAR_017670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017670	rs45620037 Sick sinus syndrome type 1 (SSS1) [MIM:608567]	SWISS	131	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Arg225Gln	VAR_036661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036661	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	139	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Arg225Trp	VAR_055164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055164	- Progressive familial heart block type 1A (PFHB1A) [MIM:113900]	SWISS	139	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Ala226Val	VAR_026346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026346	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	143	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Ile230Val	VAR_026347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026347	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	147	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Arg282His	VAR_026348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026348	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	209	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Val294Met	VAR_026349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026349	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	221	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Gly298Ser	VAR_017671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017671	- Progressive familial heart block type 1A (PFHB1A) [MIM:113900]	SWISS	268	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Gly319Ser	VAR_026350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026350	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	289	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Leu325Arg	VAR_055166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055166	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	295	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Pro336Leu	VAR_055167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055167	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	306	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Gly351Val	VAR_026351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026351	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	321	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Thr353Ile	VAR_055168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055168	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	323	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Asp356Asn	VAR_026352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026352	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	326	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Arg367Cys	VAR_026353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026353	rs28937318 Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	337	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Arg367His	VAR_017672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017672	rs28937318 Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	337	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Met369Lys	VAR_026354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026354	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	339	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Asn406Lys	VAR_055170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055170	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	401	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Asn406Ser	VAR_055171	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055171	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	401	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Thr512Ile	VAR_036662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036662	- Progressive familial heart block type 1A (PFHB1A) [MIM:113900]	SWISS	86	pfam11933	37622907,NP_932173
6331	215273881	Disease	p.Gly514Cys	VAR_017673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017673	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	88	pfam11933	37622907,NP_932173
6331	215273881	Disease	p.Gly514Cys	VAR_017673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017673	- Progressive familial heart block type 1A (PFHB1A) [MIM:113900]	SWISS	88	pfam11933	37622907,NP_932173
6331	215273881	Disease	p.Phe532Cys	VAR_055177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055177	- Sudden infant death syndrome (SIDS) [MIM:272120]	SWISS	127	pfam11933	37622907,NP_932173
6331	215273881	Disease	p.Leu567Gln	VAR_026357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026357	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	198	pfam11933	37622907,NP_932173
6331	215273881	Disease	p.Ala572Asp	VAR_055178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055178	rs36210423 Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	207	pfam11933	37622907,NP_932173
6331	215273881	Disease	p.Gly615Glu	VAR_026358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026358	rs12720452 Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	273	pfam11933	37622907,NP_932173
6331	215273881	Disease	p.Leu619Phe	VAR_015682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015682	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	277	pfam11933	37622907,NP_932173
6331	215273881	Disease	p.Gly639Arg	VAR_036664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036664	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	298	pfam11933	37622907,NP_932173
6331	215273881	Disease	p.Arg680His	VAR_055181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055181	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.His681Pro	VAR_026359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026359	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Ala735Glu	VAR_026360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026360	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Ala735Val	VAR_017674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017674	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Gly752Arg	VAR_026361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026361	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	2	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Gly752Arg	VAR_026361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026361	- Progressive familial heart block type 1A (PFHB1A) [MIM:113900]	SWISS	2	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Arg814Gln	VAR_055182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055182	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	139	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Phe851Leu	VAR_026362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026362	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	189	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Arg878Cys	VAR_055183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055183	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	322	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Phe892Ile	VAR_026363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026363	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	336	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Cys896Ser	VAR_026364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026364	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	340	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Ser910Leu	VAR_026365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026365	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	379	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Ser941Asn	VAR_017675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017675	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Arg965Cys	VAR_026366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026366	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	13	pfam06512	37622907,NP_932173
6331	215273881	Disease	p.Ala997Ser	VAR_017676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017676	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	84	pfam06512	37622907,NP_932173
6331	215273881	Disease	p.Arg1023His	VAR_055184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055184	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	145	pfam06512	37622907,NP_932173
6331	215273881	Disease	p.Glu1053Lys	VAR_026368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026368	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	201	pfam06512	37622907,NP_932173
6331	215273881	Disease	p.Gly1084Ser	VAR_055185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055185	- Sudden infant death syndrome (SIDS) [MIM:272120]	SWISS	250	pfam06512	37622907,NP_932173
6331	215273881	Disease	p.Asp1114Asn	VAR_009935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009935	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	280	pfam06512	37622907,NP_932173
6331	215273881	Disease	p.Arg1193Gln	VAR_017678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017678	rs41261344 Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	420	pfam06512	37622907,NP_932173
6331	215273881	Disease	p.Arg1193Gln	VAR_017678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017678	rs41261344 Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	420	pfam06512	37622907,NP_932173
6331	215273881	Disease	p.Glu1225Lys	VAR_026369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026369	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Arg1232Trp	VAR_017679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017679	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Arg1232Trp	VAR_017679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017679	- Progressive familial heart block type 1A (PFHB1A) [MIM:113900]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Lys1236Asn	VAR_026370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026370	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Glu1240Gln	VAR_026371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026371	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Phe1250Leu	VAR_026372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026372	rs45589741 Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	10	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Gly1262Ser	VAR_036665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036665	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	22	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Asp1275Asn	VAR_026373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026373	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	57	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Asp1275Asn	VAR_026373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026373	- Cardiomyopathy dilated type 1E (CMD1E) [MIM:601154]	SWISS	57	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Asp1275Asn	VAR_026373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026373	- Progressive familial heart block type 1A (PFHB1A) [MIM:113900]	SWISS	57	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Phe1293Ser	VAR_026374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026374	rs41311127 Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	75	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Glu1295Lys	VAR_055187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055187	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	77	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Pro1298Leu	VAR_017680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017680	rs28937319 Sick sinus syndrome type 1 (SSS1) [MIM:608567]	SWISS	128	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Thr1304Met	VAR_008956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008956	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	134	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Gly1319Val	VAR_026375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026375	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	152	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Asn1325Ser	VAR_001577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001577	rs28937317 Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	167	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Ala1330Pro	VAR_055189	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055189	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	173	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Ala1330Thr	VAR_055190	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055190	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	173	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Pro1332Leu	VAR_055191	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055191	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	175	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Ser1333Tyr	VAR_036666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036666	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	176	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Ser1333Tyr	VAR_036666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036666	- Sudden infant death syndrome (SIDS) [MIM:272120]	SWISS	176	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Phe1344Ser	VAR_026376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026376	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	187	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Ser1382Ile	VAR_026377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026377	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	305	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Val1405Leu	VAR_026378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026378	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	328	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Gly1406Arg	VAR_026379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026379	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	329	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Gly1408Arg	VAR_017681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017681	rs28936971 Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	331	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Gly1408Arg	VAR_017681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017681	rs28936971 Sick sinus syndrome type 1 (SSS1) [MIM:608567]	SWISS	331	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Arg1432Gly	VAR_055192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055192	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	355	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Pro1438Leu	VAR_055193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055193	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	376	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Phe1473Cys	VAR_055194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055194	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Phe1486Leu	VAR_055195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055195	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Tyr1494Asn	VAR_055196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055196	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Leu1501Val	VAR_009936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009936	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Gly1502Ser	VAR_026382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026382	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Arg1512Trp	VAR_017682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017682	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Lys1527Arg	VAR_055198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055198	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Ala1569Pro	VAR_055199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055199	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	8	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Asp1595Asn	VAR_017683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017683	- Progressive familial heart block type 1A (PFHB1A) [MIM:113900]	SWISS	57	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Ser1609Trp	VAR_036667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036667	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	71	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Thr1620Lys	VAR_055201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055201	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	124	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Thr1620Lys	VAR_055201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055201	- Progressive familial heart block type 1A (PFHB1A) [MIM:113900]	SWISS	124	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Thr1620Met	VAR_017684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017684	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	124	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Arg1623Leu	VAR_009937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009937	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	127	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Arg1623Gln	VAR_001578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001578	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	127	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Arg1626Pro	VAR_055202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055202	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	130	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Arg1644Cys	VAR_055203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055203	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	158	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Arg1644Cys	VAR_055203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055203	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	158	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Arg1644His	VAR_001579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001579	rs28937316 Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	158	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Thr1645Met	VAR_008958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008958	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	159	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Ala1649Val	VAR_055204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055204	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	168	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Met1652Arg	VAR_055205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055205	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	172	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Ile1660Val	VAR_055206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055206	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	180	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Phe1705Ser	VAR_055207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055207	- Sudden infant death syndrome (SIDS) [MIM:272120]	SWISS	336	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Ser1710Leu	VAR_017685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017685	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	341	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Ser1710Leu	VAR_017685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017685	- Ventricular fibrillation paroxysmal familial type 1 (VF1) [MIM:603829]	SWISS	341	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Asp1714Gly	VAR_026383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026383	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	345	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Gly1740Arg	VAR_026384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026384	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	376	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Gly1743Glu	VAR_026385	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026385	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	379	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Gly1743Arg	VAR_055208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055208	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	379	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Val1763Met	VAR_055209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055209	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	399	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Met1766Leu	VAR_055210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055210	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	402	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Ile1768Val	VAR_055211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055211	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	404	pfam00520	37622907,NP_932173
6331	215273881	Disease	p.Val1777Met	VAR_055212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055212	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Glu1784Lys	VAR_008959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008959	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Glu1784Lys	VAR_008959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008959	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Ser1787Asn	VAR_009938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009938	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Asp1790Gly	VAR_001580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001580	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Tyr1795Cys	VAR_019123	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019123	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Tyr1795His	VAR_019124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019124	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Asp1819Asn	VAR_036668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036668	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Leu1825Pro	VAR_055213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055213	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Arg1826His	VAR_017687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017687	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Asp1839Gly	VAR_001581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001581	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Cys1850Ser	VAR_055215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055215	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Ser1904Leu	VAR_055217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055217	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Ala1924Thr	VAR_017688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017688	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Gly1935Ser	VAR_055218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055218	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Val1951Leu	VAR_026386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026386	rs41315493 Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Val1951Leu	VAR_026386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026386	rs41315493 Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Ile1968Ser	VAR_055220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055220	- Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Phe2004Leu	VAR_055221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055221	rs41311117 Brugada syndrome type 1 (BRS1) [MIM:601144]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Phe2004Leu	VAR_055221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055221	rs41311117 Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	No Domain	N/A	37622907,NP_932173
6331	215273881	Disease	p.Pro2006Ala	VAR_055222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_055222	- Long QT syndrome type 3 (LQT3) [MIM:603830]	SWISS	No Domain	N/A	37622907,NP_932173
6335	55976302	Disease	p.Ser241Thr	VAR_032014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032014	- Primary erythermalgia [MIM:133020]	SWISS	173	pfam00520	NULL
6335	55976302	Disease	p.Ile859Thr	VAR_019947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019947	- Primary erythermalgia [MIM:133020]	SWISS	169	pfam00520	NULL
6335	55976302	Disease	p.Leu869His	VAR_019948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019948	- Primary erythermalgia [MIM:133020]	SWISS	180	pfam00520	NULL
6335	55976302	Disease	p.Arg1007Cys	VAR_032015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032015	- Paroxysmal extreme pain disorder (PEPD) [MIM:167400]	SWISS	26	pfam06512	NULL
6335	55976302	Disease	p.Val1309Asp	VAR_032016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032016	- Paroxysmal extreme pain disorder (PEPD) [MIM:167400]	SWISS	159	pfam00520	NULL
6335	55976302	Disease	p.Val1309Phe	VAR_032017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032017	- Paroxysmal extreme pain disorder (PEPD) [MIM:167400]	SWISS	159	pfam00520	NULL
6335	55976302	Disease	p.Val1310Phe	VAR_032018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032018	- Paroxysmal extreme pain disorder (PEPD) [MIM:167400]	SWISS	160	pfam00520	NULL
6335	55976302	Disease	p.Phe1460Val	VAR_032019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032019	- Primary erythermalgia [MIM:133020]	SWISS	No Domain	N/A	NULL
6335	55976302	Disease	p.Ile1472Thr	VAR_032020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032020	- Paroxysmal extreme pain disorder (PEPD) [MIM:167400]	SWISS	No Domain	N/A	NULL
6335	55976302	Disease	p.Phe1473Val	VAR_032021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032021	- Paroxysmal extreme pain disorder (PEPD) [MIM:167400]	SWISS	No Domain	N/A	NULL
6335	55976302	Disease	p.Thr1475Ile	VAR_032022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032022	- Paroxysmal extreme pain disorder (PEPD) [MIM:167400]	SWISS	No Domain	N/A	NULL
6335	55976302	Disease	p.Met1638Lys	VAR_032023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032023	- Paroxysmal extreme pain disorder (PEPD) [MIM:167400]	SWISS	170	pfam00520	NULL
6337	585966	Disease	p.Phe61Leu	VAR_060793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060793	rs61758859 Bronchiectasis with or without elevated sweat chloride type 2 (BESC2) [MIM:613021]	SWISS	No Domain	N/A	4506815,NP_001029
6337	585966	Disease	p.Val114Ile	VAR_060794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060794	rs61759861 Bronchiectasis with or without elevated sweat chloride type 2 (BESC2) [MIM:613021]	SWISS	110	pfam00858	4506815,NP_001029
6337	585966	Disease	p.Gly327Cys	VAR_026518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026518	- Autosomal recessive pseudohypoaldosteronism type 1 (AR-PHA1) [MIM:264350]	SWISS	958	pfam00858	4506815,NP_001029
6337	585966	Disease	p.Ser562Leu	VAR_015834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015834	- Autosomal recessive pseudohypoaldosteronism type 1 (AR-PHA1) [MIM:264350]	SWISS	1598	pfam00858	4506815,NP_001029
6338	8928561	Disease	p.Gly37Ser	VAR_007127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007127	- Autosomal recessive pseudohypoaldosteronism type 1 (AR-PHA1) [MIM:264350]	SWISS	9	pfam00858	124301196,NP_000327
6338	8928561	Disease	p.Ser82Cys	VAR_062401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062401	- Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400]	SWISS	113	pfam00858	124301196,NP_000327
6338	8928561	Disease	p.Pro267Leu	VAR_062402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062402	- Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400]	SWISS	836	pfam00858	124301196,NP_000327
6338	8928561	Disease	p.Asn288Ser	VAR_062403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062403	- Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400]	SWISS	952	pfam00858	124301196,NP_000327
6338	8928561	Disease	p.Gly294Ser	VAR_062404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062404	- Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400]	SWISS	958	pfam00858	124301196,NP_000327
6338	8928561	Disease	p.Val348Met	VAR_062405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062405	- Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400]	SWISS	1136	pfam00858	124301196,NP_000327
6338	8928561	Disease	p.Pro369Thr	VAR_062406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062406	- Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400]	SWISS	1193	pfam00858	124301196,NP_000327
6338	8928561	Disease	p.Glu539Lys	VAR_062407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062407	- Bronchiectasis with or without elevated sweat chloride type 1 (BESC1) [MIM:211400]	SWISS	1604	pfam00858	124301196,NP_000327
6338	8928561	Disease	p.Pro616Leu	VAR_007128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007128	- Liddle syndrome [MIM:177200]	SWISS	No Domain	N/A	124301196,NP_000327
6338	8928561	Disease	p.Pro616Ser	VAR_007129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007129	- Liddle syndrome [MIM:177200]	SWISS	No Domain	N/A	124301196,NP_000327
6338	8928561	Disease	p.Pro617Ser	VAR_026520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026520	- Liddle syndrome [MIM:177200]	SWISS	No Domain	N/A	124301196,NP_000327
6338	8928561	Disease	p.Pro618Arg	VAR_026521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026521	- Liddle syndrome [MIM:177200]	SWISS	No Domain	N/A	124301196,NP_000327
6338	8928561	Disease	p.Tyr620His	VAR_026522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026522	- Liddle syndrome [MIM:177200]	SWISS	No Domain	N/A	124301196,NP_000327
6341	8134663	Disease	p.Pro174Leu	VAR_012109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012109	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	102	COG1999	4759068,NP_004580
6341	8134663	Disease	p.Pro174Leu	VAR_012109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012109	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	47	cd02968	4759068,NP_004580
6341	8134663	Disease	p.Pro174Leu	VAR_012109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012109	- Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]	SWISS	59	pfam02630	4759068,NP_004580
9997	8134662	Disease	p.Glu140Lys	VAR_008874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008874	- Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377]	SWISS	61	pfam02630	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Glu140Lys	VAR_008874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008874	- Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377]	SWISS	104	COG1999	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Glu140Lys	VAR_008874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008874	- Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377]	SWISS	49	cd02968	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Arg171Trp	VAR_013238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013238	rs28937598 Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377]	SWISS	91	pfam02630	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Arg171Trp	VAR_013238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013238	rs28937598 Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377]	SWISS	135	COG1999	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Arg171Trp	VAR_013238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013238	rs28937598 Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377]	SWISS	98	cd02968	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Ser225Phe	VAR_008875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008875	- Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377]	SWISS	146	pfam02630	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Ser225Phe	VAR_008875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008875	- Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377]	SWISS	230	COG1999	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
9997	8134662	Disease	p.Ser225Phe	VAR_008875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008875	- Fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377]	SWISS	198	cd02968	281182716,NP_001162580|281182727,NP_001162582|281182722,NP_001162581|153791313,NP_005129
6389	1169337	Disease	p.Ala524Val	VAR_016878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016878	- Leigh syndrome (LS) [MIM:256000]	SWISS	13	pfam02910	156416003,NP_004159
6389	1169337	Disease	p.Ala524Val	VAR_016878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016878	- Leigh syndrome (LS) [MIM:256000]	SWISS	489	COG0029	156416003,NP_004159
6389	1169337	Disease	p.Ala524Val	VAR_016878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016878	- Leigh syndrome (LS) [MIM:256000]	SWISS	726	COG1053	156416003,NP_004159
6389	1169337	Disease	p.Arg554Trp	VAR_002449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002449	- Leigh syndrome (LS) [MIM:256000]	SWISS	57	pfam02910	156416003,NP_004159
6389	1169337	Disease	p.Arg554Trp	VAR_002449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002449	- Leigh syndrome (LS) [MIM:256000]	SWISS	525	COG0029	156416003,NP_004159
6389	1169337	Disease	p.Arg554Trp	VAR_002449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002449	- Leigh syndrome (LS) [MIM:256000]	SWISS	762	COG1053	156416003,NP_004159
6389	1169337	Disease	p.Gly555Glu	VAR_016879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016879	- Mitochondrial complex II deficiency (MT-C2D) [MIM:252011]	SWISS	58	pfam02910	156416003,NP_004159
6389	1169337	Disease	p.Gly555Glu	VAR_016879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016879	- Mitochondrial complex II deficiency (MT-C2D) [MIM:252011]	SWISS	526	COG0029	156416003,NP_004159
6389	1169337	Disease	p.Gly555Glu	VAR_016879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016879	- Mitochondrial complex II deficiency (MT-C2D) [MIM:252011]	SWISS	763	COG1053	156416003,NP_004159
644096	182662403	Disease	p.Arg55Pro	VAR_058097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058097	- Mitochondrial complex II deficiency (MT-C2D) [MIM:252011]	SWISS	147	pfam05347	NULL
644096	182662403	Disease	p.Gly57Arg	VAR_058098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058098	- Mitochondrial complex II deficiency (MT-C2D) [MIM:252011]	SWISS	149	pfam05347	NULL
10484	143811354	Disease	p.Phe382Leu	VAR_031030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031030	- Craniolenticulosutural dysplasia (CLSD) [MIM:607812]	SWISS	388	COG5047	38202214,NP_006355
10484	143811354	Disease	p.Phe382Leu	VAR_031030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031030	- Craniolenticulosutural dysplasia (CLSD) [MIM:607812]	SWISS	282	pfam04811	38202214,NP_006355
10484	143811354	Disease	p.Phe382Leu	VAR_031030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031030	- Craniolenticulosutural dysplasia (CLSD) [MIM:607812]	SWISS	310	cd01478	38202214,NP_006355
10484	143811354	Disease	p.Phe382Leu	VAR_031030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031030	- Craniolenticulosutural dysplasia (CLSD) [MIM:607812]	SWISS	385	cd01468	38202214,NP_006355
10483	20141794	Disease	p.Arg14Trp	VAR_062294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062294	- Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]	SWISS	11	COG5047	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Glu109Lys	VAR_062296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062296	- Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]	SWISS	106	COG5047	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Asp348Ala	VAR_062300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062300	- Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]	SWISS	352	COG5047	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Asp348Ala	VAR_062300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062300	- Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]	SWISS	239	pfam04811	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Asp348Ala	VAR_062300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062300	- Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]	SWISS	274	cd01478	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Asp348Ala	VAR_062300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062300	- Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]	SWISS	334	cd01468	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Arg497Cys	VAR_062305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062305	- Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]	SWISS	299	pfam08033	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Arg497Cys	VAR_062305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062305	- Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]	SWISS	511	COG5047	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Arg530Trp	VAR_062307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062307	- Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]	SWISS	10	pfam04815	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Arg530Trp	VAR_062307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062307	- Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]	SWISS	542	COG5047	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Ser603Leu	VAR_062308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062308	- Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]	SWISS	148	pfam04815	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Ser603Leu	VAR_062308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062308	- Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]	SWISS	615	COG5047	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Arg701Cys	VAR_062309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062309	- Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]	SWISS	81	pfam00626	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
10483	20141794	Disease	p.Arg701Cys	VAR_062309	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062309	- Congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]	SWISS	714	COG5047	14591926,NP_116781|289629265,NP_001166216|14591928,NP_006354|14591924,NP_116780
79048	52788293	Disease	p.Arg540Gln	VAR_025282	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025282	- Abnormal thyroid hormone metabolism (ATHYHM) [MIM:609698]	SWISS	No Domain	N/A	83779010,NP_076982
64218	29840871	Disease	p.Asp345His	VAR_028322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028322	- Cone-rod dystrophy type 10 (CORD10) [MIM:610283]	SWISS	528	smart00630	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	29840871	Disease	p.Asp345His	VAR_028322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028322	- Cone-rod dystrophy type 10 (CORD10) [MIM:610283]	SWISS	395	pfam01403	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	29840871	Disease	p.Asp345His	VAR_028322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028322	- Retinitis pigmentosa type 35 (RP35) [MIM:610282]	SWISS	528	smart00630	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	29840871	Disease	p.Asp345His	VAR_028322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028322	- Retinitis pigmentosa type 35 (RP35) [MIM:610282]	SWISS	395	pfam01403	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	29840871	Disease	p.Phe350Cys	VAR_028323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028323	- Cone-rod dystrophy type 10 (CORD10) [MIM:610283]	SWISS	533	smart00630	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	29840871	Disease	p.Phe350Cys	VAR_028323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028323	- Cone-rod dystrophy type 10 (CORD10) [MIM:610283]	SWISS	400	pfam01403	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	29840871	Disease	p.Phe350Cys	VAR_028323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028323	- Retinitis pigmentosa type 35 (RP35) [MIM:610282]	SWISS	533	smart00630	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	29840871	Disease	p.Phe350Cys	VAR_028323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028323	- Retinitis pigmentosa type 35 (RP35) [MIM:610282]	SWISS	400	pfam01403	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
64218	29840871	Disease	p.Arg713Gln	VAR_028325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028325	rs41265017 Retinitis pigmentosa type 35 (RP35) [MIM:610282]	SWISS	No Domain	N/A	21361914,NP_071762|300863074,NP_001180230|300863072,NP_001180229
57190	172044683	Disease	p.Gly273Glu	VAR_019635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019635	- Myopathy SEPN-related (SEPNM) [MIM:602771]	SWISS	No Domain	N/A	NULL
57190	172044683	Disease	p.His293Arg	VAR_019636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019636	- Myopathy SEPN-related (SEPNM) [MIM:602771]	SWISS	No Domain	N/A	NULL
57190	172044683	Disease	p.Gly315Ser	VAR_019637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019637	- Myopathy SEPN-related (SEPNM) [MIM:602771]	SWISS	No Domain	N/A	NULL
57190	172044683	Disease	p.Asn340Ile	VAR_019638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019638	- Myopathy SEPN-related (SEPNM) [MIM:602771]	SWISS	No Domain	N/A	NULL
57190	172044683	Disease	p.Trp453Ser	VAR_019639	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019639	- Myopathy SEPN-related (SEPNM) [MIM:602771]	SWISS	No Domain	N/A	NULL
57190	172044683	Disease	p.462Gly	VAR_019640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019640	- Myopathy SEPN-related (SEPNM) [MIM:602771]	SWISS	No Domain	N/A	NULL
57190	172044683	Disease	p.Gly463Val	VAR_058462	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058462	- Myopathy SEPN-related (SEPNM) [MIM:602771]	SWISS	No Domain	N/A	NULL
57190	172044683	Disease	p.Arg466Gln	VAR_019641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019641	- Myopathy SEPN-related (SEPNM) [MIM:602771]	SWISS	No Domain	N/A	NULL
57190	172044683	Disease	p.Arg469Gln	VAR_058463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058463	- Myopathy SEPN-related (SEPNM) [MIM:602771]	SWISS	No Domain	N/A	NULL
57190	172044683	Disease	p.Arg469Trp	VAR_058464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058464	- Myopathy SEPN-related (SEPNM) [MIM:602771]	SWISS	No Domain	N/A	NULL
10801	93141311	Disease	p.Arg106Trp	VAR_033101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033101	- Hereditary neuralgic amyotrophy (HNA) [MIM:162100]	SWISS	No Domain	N/A	164698494,NP_001106963
10801	93141311	Disease	p.Ser111Phe	VAR_033102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033102	- Hereditary neuralgic amyotrophy (HNA) [MIM:162100]	SWISS	No Domain	N/A	164698494,NP_001106963
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	44	cd02052	50659080,NP_001076
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	29	cd02048	50659080,NP_001076
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	41	pfam00079	50659080,NP_001076
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	32	cd02043	50659080,NP_001076
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	32	smart00093	50659080,NP_001076
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	30	cd02055	50659080,NP_001076
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	35	cd02045	50659080,NP_001076
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	32	cd02046	50659080,NP_001076
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	33	cd02054	50659080,NP_001076
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	28	cd02050	50659080,NP_001076
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	35	cd00172	50659080,NP_001076
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	30	cd02056	50659080,NP_001076
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	106	cd02047	50659080,NP_001076
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	81	COG4826	50659080,NP_001076
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	30	cd02053	50659080,NP_001076
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	41	cd02049	50659080,NP_001076
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	30	cd02044	50659080,NP_001076
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	30	cd02059	50659080,NP_001076
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	30	cd02058	50659080,NP_001076
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	30	cd02057	50659080,NP_001076
12	112874	Disease	p.Leu78Pro	VAR_006974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006974	rs1800463 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	36	cd02051	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	216	cd02052	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	204	cd02048	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	390	pfam00079	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	219	cd02043	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	346	smart00093	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	204	cd02055	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	213	cd02045	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	204	cd02046	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	220	cd02054	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	195	cd02050	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	293	cd00172	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	205	cd02056	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	285_G	cd02047	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	255	COG4826	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	195	cd02053	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	212	cd02049	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	218	cd02044	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	248	cd02059	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	239	cd02058	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	204	cd02057	50659080,NP_001076
12	112874	Disease	p.Pro252Ala	VAR_006976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006976	rs17473 Chronic obstructive pulmonary disease (COPD) [MIM:107280]	SWISS	256	cd02051	50659080,NP_001076
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	84	cd02045	NULL
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	125	cd02051	NULL
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	73	cd02053	NULL
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	86	cd02049	NULL
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	89	cd02052	NULL
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	109	cd02059	NULL
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	110	cd02058	NULL
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	73	cd02057	NULL
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	87	cd02044	NULL
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	71	cd02048	NULL
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	78	cd02043	NULL
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	140	pfam00079	NULL
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	189	smart00093	NULL
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	78	cd02055	NULL
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	77	cd02056	NULL
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	69	cd02050	NULL
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	115	cd00172	NULL
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	88	cd02054	NULL
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	126	COG4826	NULL
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	77	cd02046	NULL
866	115851	Disease	p.Leu115His	VAR_007111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007111	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	159	cd02047	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	370	cd02045	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	409	cd02051	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	340	cd02053	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	376	cd02049	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	364	cd02052	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	405	cd02059	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	398	cd02058	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	357	cd02057	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	376	cd02044	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	362	cd02048	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	401	cd02043	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	851	pfam00079	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	638	smart00093	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	353	cd02055	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	365	cd02056	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	347	cd02050	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	728	cd00172	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	371	cd02054	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	416	COG4826	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	355	cd02046	NULL
866	115851	Disease	p.Asp389Asn	VAR_016223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016223	rs28929488 Corticosteroid-binding globulin deficiency (CBG deficiency) [MIM:611489]	SWISS	431	cd02047	NULL
6906	1351236	Disease	p.Ser43Thr	VAR_007102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007102	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	16	cd02052	205277441,NP_000345
6906	1351236	Disease	p.Ser43Thr	VAR_007102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007102	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	4	cd02046	205277441,NP_000345
6906	1351236	Disease	p.Ser43Thr	VAR_007102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007102	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	8	cd02051	205277441,NP_000345
6906	1351236	Disease	p.Ser43Thr	VAR_007102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007102	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	3	cd02053	205277441,NP_000345
6906	1351236	Disease	p.Ser43Thr	VAR_007102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007102	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	3	cd02055	205277441,NP_000345
6906	1351236	Disease	p.Ser43Thr	VAR_007102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007102	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	6	cd02045	205277441,NP_000345
6906	1351236	Disease	p.Ser43Thr	VAR_007102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007102	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	2	cd02059	205277441,NP_000345
6906	1351236	Disease	p.Ser43Thr	VAR_007102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007102	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	2	cd02058	205277441,NP_000345
6906	1351236	Disease	p.Ser43Thr	VAR_007102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007102	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	2	cd02057	205277441,NP_000345
6906	1351236	Disease	p.Ser43Thr	VAR_007102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007102	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	2	cd02044	205277441,NP_000345
6906	1351236	Disease	p.Ser43Thr	VAR_007102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007102	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	2	cd02049	205277441,NP_000345
6906	1351236	Disease	p.Ser43Thr	VAR_007102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007102	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	51	COG4826	205277441,NP_000345
6906	1351236	Disease	p.Ser43Thr	VAR_007102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007102	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	77	cd02047	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	87	cd02052	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	75	cd02046	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	123	cd02051	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	187	smart00093	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	67	cd02053	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	76	cd02055	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	63	cd02050	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	72	cd02048	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	81	cd02045	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	107	cd02059	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	108	cd02058	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	71	cd02057	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	85	cd02044	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	84	cd02049	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	124	COG4826	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	85	cd02054	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	75	cd02056	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	113	cd00172	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	138	pfam00079	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	75	cd02043	205277441,NP_000345
6906	1351236	Disease	p.Ile116Asn	VAR_007103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007103	rs28933689 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	156	cd02047	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	102	cd02052	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	93	cd02046	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	140	cd02051	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	217	smart00093	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	84	cd02053	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	92	cd02055	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	82	cd02050	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	89	cd02048	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	99	cd02045	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	124	cd02059	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	125	cd02058	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	88	cd02057	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	102	cd02044	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	101	cd02049	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	141	COG4826	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	108	cd02054	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	92	cd02056	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	159	cd00172	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	206	pfam00079	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	101	cd02043	205277441,NP_000345
6906	1351236	Disease	p.Ala133Pro	VAR_007104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007104	rs28933688 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	173	cd02047	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	217	cd02052	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	206	cd02046	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	256	cd02051	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	349	smart00093	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	197	cd02053	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	205	cd02055	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	197	cd02050	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	206	cd02048	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	215	cd02045	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	246	cd02059	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	241	cd02058	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	203	cd02057	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	217	cd02044	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	214	cd02049	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	258	COG4826	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	222	cd02054	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	207	cd02056	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	295	cd00172	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	398	pfam00079	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	222	cd02043	205277441,NP_000345
6906	1351236	Disease	p.Leu247Pro	VAR_007107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007107	rs28937312 Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	285	cd02047	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	322	cd02052	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	314	cd02046	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	367	cd02051	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	528	smart00093	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	299	cd02053	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	311	cd02055	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	307	cd02050	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	318	cd02048	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	325	cd02045	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	360	cd02059	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	354	cd02058	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	317	cd02057	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	332	cd02044	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	328	cd02049	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	367	COG4826	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	330	cd02054	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	319	cd02056	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	660	cd00172	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	747	pfam00079	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	351	cd02043	205277441,NP_000345
6906	1351236	Disease	p.His351Tyr	VAR_007109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007109	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	389	cd02047	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	349	cd02052	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	341	cd02046	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	395	cd02051	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	617	smart00093	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	326	cd02053	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	339	cd02055	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	333_G	cd02050	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	348	cd02048	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	356_G	cd02045	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	388	cd02059	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	382	cd02058	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	344_G	cd02057	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	362	cd02044	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	362	cd02049	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	399	COG4826	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	357	cd02054	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	351	cd02056	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	717_G	cd00172	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	837	pfam00079	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	383	cd02043	205277441,NP_000345
6906	1351236	Disease	p.Pro383Leu	VAR_007110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007110	- Thyroxine-binding globulin deficiency (TBG deficiency) [MIM:314200]	SWISS	419	cd02047	205277441,NP_000345
462	113936	Disease	p.Tyr17Ser	VAR_027450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027450	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	No Domain	N/A	4502261,NP_000479
462	113936	Disease	p.Leu23Pro	VAR_012748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012748	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	No Domain	N/A	4502261,NP_000479
462	113936	Disease	p.Cys32Arg	VAR_027451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027451	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	6	cd02047	4502261,NP_000479
462	113936	Disease	p.Ile39Asn	VAR_007033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007033	rs28929468 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	21	cd02047	4502261,NP_000479
462	113936	Disease	p.Arg56Cys	VAR_007035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007035	rs28929469 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	39	cd02047	4502261,NP_000479
462	113936	Disease	p.Arg56Cys	VAR_007035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007035	rs28929469 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	8	COG4826	4502261,NP_000479
462	113936	Disease	p.Pro73Leu	VAR_007036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007036	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	11	cd02052	4502261,NP_000479
462	113936	Disease	p.Pro73Leu	VAR_007036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007036	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	56	cd02047	4502261,NP_000479
462	113936	Disease	p.Pro73Leu	VAR_007036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007036	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	40	COG4826	4502261,NP_000479
462	113936	Disease	p.Arg79Cys	VAR_007037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007037	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	11_G	cd02052	4502261,NP_000479
462	113936	Disease	p.Arg79Cys	VAR_007037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007037	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	62	cd02047	4502261,NP_000479
462	113936	Disease	p.Arg79Cys	VAR_007037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007037	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	3	cd02051	4502261,NP_000479
462	113936	Disease	p.Arg79Cys	VAR_007037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007037	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	46	COG4826	4502261,NP_000479
462	113936	Disease	p.Arg79His	VAR_007038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007038	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	11_G	cd02052	4502261,NP_000479
462	113936	Disease	p.Arg79His	VAR_007038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007038	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	62	cd02047	4502261,NP_000479
462	113936	Disease	p.Arg79His	VAR_007038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007038	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	3	cd02051	4502261,NP_000479
462	113936	Disease	p.Arg79His	VAR_007038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007038	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	46	COG4826	4502261,NP_000479
462	113936	Disease	p.Arg79Ser	VAR_007039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007039	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	11_G	cd02052	4502261,NP_000479
462	113936	Disease	p.Arg79Ser	VAR_007039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007039	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	62	cd02047	4502261,NP_000479
462	113936	Disease	p.Arg79Ser	VAR_007039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007039	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	3	cd02051	4502261,NP_000479
462	113936	Disease	p.Arg79Ser	VAR_007039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007039	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	46	COG4826	4502261,NP_000479
462	113936	Disease	p.Arg89Cys	VAR_007041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007041	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	6	cd02048	4502261,NP_000479
462	113936	Disease	p.Arg89Cys	VAR_007041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007041	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	5	cd02043	4502261,NP_000479
462	113936	Disease	p.Arg89Cys	VAR_007041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007041	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	5	pfam00079	4502261,NP_000479
462	113936	Disease	p.Arg89Cys	VAR_007041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007041	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	21	cd02052	4502261,NP_000479
462	113936	Disease	p.Arg89Cys	VAR_007041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007041	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	82	cd02047	4502261,NP_000479
462	113936	Disease	p.Arg89Cys	VAR_007041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007041	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	7	cd02058	4502261,NP_000479
462	113936	Disease	p.Arg89Cys	VAR_007041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007041	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	7	cd02059	4502261,NP_000479
462	113936	Disease	p.Arg89Cys	VAR_007041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007041	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	7	cd02057	4502261,NP_000479
462	113936	Disease	p.Arg89Cys	VAR_007041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007041	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	7	cd02044	4502261,NP_000479
462	113936	Disease	p.Arg89Cys	VAR_007041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007041	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	7	cd02053	4502261,NP_000479
462	113936	Disease	p.Arg89Cys	VAR_007041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007041	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	7	cd02049	4502261,NP_000479
462	113936	Disease	p.Arg89Cys	VAR_007041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007041	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	11	cd02045	4502261,NP_000479
462	113936	Disease	p.Arg89Cys	VAR_007041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007041	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	13	cd02051	4502261,NP_000479
462	113936	Disease	p.Arg89Cys	VAR_007041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007041	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	56	COG4826	4502261,NP_000479
462	113936	Disease	p.Arg89Cys	VAR_007041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007041	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	4	cd02054	4502261,NP_000479
462	113936	Disease	p.Arg89Cys	VAR_007041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007041	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	4	cd00172	4502261,NP_000479
462	113936	Disease	p.Arg89Cys	VAR_007041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007041	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	4	cd02056	4502261,NP_000479
462	113936	Disease	p.Arg89Cys	VAR_007041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007041	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	4	cd02050	4502261,NP_000479
462	113936	Disease	p.Arg89Cys	VAR_007041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007041	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	8	cd02055	4502261,NP_000479
462	113936	Disease	p.Arg89Cys	VAR_007041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007041	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	9	cd02046	4502261,NP_000479
462	113936	Disease	p.Phe90Leu	VAR_007042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007042	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	7	cd02048	4502261,NP_000479
462	113936	Disease	p.Phe90Leu	VAR_007042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007042	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	6	cd02043	4502261,NP_000479
462	113936	Disease	p.Phe90Leu	VAR_007042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007042	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	6	pfam00079	4502261,NP_000479
462	113936	Disease	p.Phe90Leu	VAR_007042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007042	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	22	cd02052	4502261,NP_000479
462	113936	Disease	p.Phe90Leu	VAR_007042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007042	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	83	cd02047	4502261,NP_000479
462	113936	Disease	p.Phe90Leu	VAR_007042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007042	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	8	cd02058	4502261,NP_000479
462	113936	Disease	p.Phe90Leu	VAR_007042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007042	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	8	cd02059	4502261,NP_000479
462	113936	Disease	p.Phe90Leu	VAR_007042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007042	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	8	cd02057	4502261,NP_000479
462	113936	Disease	p.Phe90Leu	VAR_007042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007042	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	8	cd02044	4502261,NP_000479
462	113936	Disease	p.Phe90Leu	VAR_007042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007042	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	8	cd02053	4502261,NP_000479
462	113936	Disease	p.Phe90Leu	VAR_007042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007042	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	8	cd02049	4502261,NP_000479
462	113936	Disease	p.Phe90Leu	VAR_007042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007042	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	12	cd02045	4502261,NP_000479
462	113936	Disease	p.Phe90Leu	VAR_007042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007042	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	14	cd02051	4502261,NP_000479
462	113936	Disease	p.Phe90Leu	VAR_007042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007042	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	57	COG4826	4502261,NP_000479
462	113936	Disease	p.Phe90Leu	VAR_007042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007042	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	5	cd02054	4502261,NP_000479
462	113936	Disease	p.Phe90Leu	VAR_007042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007042	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	5	cd00172	4502261,NP_000479
462	113936	Disease	p.Phe90Leu	VAR_007042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007042	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	5	cd02056	4502261,NP_000479
462	113936	Disease	p.Phe90Leu	VAR_007042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007042	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	5	cd02050	4502261,NP_000479
462	113936	Disease	p.Phe90Leu	VAR_007042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007042	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	9	cd02055	4502261,NP_000479
462	113936	Disease	p.Phe90Leu	VAR_007042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007042	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	10	cd02046	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	12	cd02048	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	11	cd02043	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	11	pfam00079	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	27	cd02052	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	88	cd02047	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	13	cd02058	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	13	cd02059	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	13	cd02057	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	13	cd02044	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	13	cd02053	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	13	cd02049	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	17	cd02045	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	4	smart00093	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	19	cd02051	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	62	COG4826	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	14	cd02054	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	10	cd00172	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	10	cd02056	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	10	cd02050	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	14	cd02055	4502261,NP_000479
462	113936	Disease	p.Tyr95Cys	VAR_027452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027452	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	15	cd02046	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	12	cd02048	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	11	cd02043	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	11	pfam00079	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	27	cd02052	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	88	cd02047	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	13	cd02058	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	13	cd02059	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	13	cd02057	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	13	cd02044	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	13	cd02053	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	13	cd02049	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	17	cd02045	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	4	smart00093	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	19	cd02051	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	62	COG4826	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	14	cd02054	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	10	cd00172	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	10	cd02056	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	10	cd02050	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	14	cd02055	4502261,NP_000479
462	113936	Disease	p.Tyr95Ser	VAR_012316	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012316	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	15	cd02046	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	15	cd02048	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	14	cd02043	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	14	pfam00079	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	30	cd02052	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	91	cd02047	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	16	cd02058	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	16	cd02059	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	16	cd02057	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	16	cd02044	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	16	cd02053	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	16	cd02049	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	20	cd02045	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	7	smart00093	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	22	cd02051	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	65	COG4826	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	17	cd02054	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	13	cd00172	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	13	cd02056	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	13	cd02050	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	17	cd02055	4502261,NP_000479
462	113936	Disease	p.Leu98Pro	VAR_027453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027453	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	18	cd02046	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	28	cd02048	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	31	cd02043	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	40	pfam00079	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	43	cd02052	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	105	cd02047	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	29	cd02058	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	29	cd02059	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	29	cd02057	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	29	cd02044	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	29	cd02053	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	40	cd02049	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	34	cd02045	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	31	smart00093	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	35	cd02051	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	80	COG4826	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	32	cd02054	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	34	cd00172	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	29	cd02056	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	27	cd02050	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	29	cd02055	4502261,NP_000479
462	113936	Disease	p.Pro112Thr	VAR_007044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007044	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	31	cd02046	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	37	cd02048	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	40	cd02043	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	55	pfam00079	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	52	cd02052	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	114	cd02047	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	38	cd02058	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	38	cd02059	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	38	cd02057	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	38	cd02044	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	38	cd02053	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	49	cd02049	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	43	cd02045	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	40	smart00093	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	44	cd02051	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	89	COG4826	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	41	cd02054	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	43	cd00172	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	38	cd02056	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	36	cd02050	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	38	cd02055	4502261,NP_000479
462	113936	Disease	p.Met121Lys	VAR_027454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027454	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	40	cd02046	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	43	cd02048	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	46	cd02043	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	61	pfam00079	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	58	cd02052	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	120	cd02047	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	44	cd02058	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	44	cd02059	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	44	cd02057	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	44	cd02044	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	44	cd02053	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	55	cd02049	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	49	cd02045	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	46	smart00093	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	50	cd02051	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	95	COG4826	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	47	cd02054	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	49	cd00172	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	44	cd02056	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	42	cd02050	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	44	cd02055	4502261,NP_000479
462	113936	Disease	p.Cys127Arg	VAR_027455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027455	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	46	cd02046	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	47	cd02048	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	52	cd02043	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	67	pfam00079	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	62	cd02052	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	124	cd02047	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	48	cd02058	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	48	cd02059	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	48	cd02057	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	48	cd02044	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	48	cd02053	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	59	cd02049	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	53	cd02045	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	50	smart00093	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	54	cd02051	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	99	COG4826	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	54	cd02054	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	60	cd00172	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	48	cd02056	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	46	cd02050	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	48	cd02055	4502261,NP_000479
462	113936	Disease	p.Leu131Phe	VAR_007045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007045	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	50	cd02046	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	47	cd02048	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	52	cd02043	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	67	pfam00079	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	62	cd02052	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	124	cd02047	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	48	cd02058	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	48	cd02059	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	48	cd02057	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	48	cd02044	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	48	cd02053	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	59	cd02049	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	53	cd02045	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	50	smart00093	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	54	cd02051	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	99	COG4826	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	54	cd02054	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	60	cd00172	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	48	cd02056	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	46	cd02050	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	48	cd02055	4502261,NP_000479
462	113936	Disease	p.Leu131Val	VAR_007046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007046	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	50	cd02046	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	49	cd02048	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	54	cd02043	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	69	pfam00079	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	64	cd02052	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	126	cd02047	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	50	cd02058	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	50	cd02059	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	50	cd02057	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	50	cd02044	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	50	cd02053	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	61	cd02049	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	55	cd02045	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	52	smart00093	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	56	cd02051	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	101	COG4826	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	56	cd02054	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	62	cd00172	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	50	cd02056	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	48	cd02050	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	50	cd02055	4502261,NP_000479
462	113936	Disease	p.Gln133Lys	VAR_007047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007047	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	52	cd02046	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	58	cd02048	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	65_G	cd02043	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	84	pfam00079	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	75_G	cd02052	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	143	cd02047	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	71	cd02058	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	63	cd02059	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	62_G	cd02057	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	72	cd02044	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	60_G	cd02053	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	73_G	cd02049	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	68	cd02045	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	135	smart00093	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	110	cd02051	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	114	COG4826	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	69	cd02054	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	100	cd00172	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	65	cd02056	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	57	cd02050	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	63	cd02055	4502261,NP_000479
462	113936	Disease	p.Lys146Glu	VAR_027456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027456	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	64_G	cd02046	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	60	cd02048	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	65_G	cd02043	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	86	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	76	cd02052	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	145	cd02047	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	97	cd02058	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	65	cd02059	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	62_G	cd02057	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	74	cd02044	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	60_G	cd02053	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	73_G	cd02049	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	70	cd02045	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	147	smart00093	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	112	cd02051	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	114_G	COG4826	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	71	cd02054	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	102	cd00172	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	65_G	cd02056	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	59	cd02050	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	65	cd02055	4502261,NP_000479
462	113936	Disease	p.Ser148Pro	VAR_007049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007049	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	64_G	cd02046	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	62	cd02048	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	67	cd02043	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	127	pfam00079	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	78	cd02052	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	147	cd02047	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	99	cd02058	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	98	cd02059	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	62_G	cd02057	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	76	cd02044	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	62	cd02053	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	75	cd02049	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	72	cd02045	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	167	smart00093	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	114	cd02051	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	115	COG4826	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	75	cd02054	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	104	cd00172	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	66	cd02056	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	61	cd02050	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	67	cd02055	4502261,NP_000479
462	113936	Disease	p.Gln150Pro	VAR_007050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007050	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	66	cd02046	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	64	cd02048	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	69	cd02043	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	129	pfam00079	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	80	cd02052	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	149	cd02047	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	101	cd02058	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	100	cd02059	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	64	cd02057	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	78	cd02044	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	64	cd02053	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	77	cd02049	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	74	cd02045	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	177	smart00093	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	116	cd02051	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	117	COG4826	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	77	cd02054	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	106	cd00172	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	68	cd02056	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	63	cd02050	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	69	cd02055	4502261,NP_000479
462	113936	Disease	p.His152Tyr	VAR_007051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007051	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	68	cd02046	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	70	cd02048	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	75	cd02043	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	135	pfam00079	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	86	cd02052	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	155	cd02047	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	107	cd02058	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	106	cd02059	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	70	cd02057	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	84	cd02044	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	70	cd02053	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	83	cd02049	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	80	cd02045	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	186	smart00093	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	122	cd02051	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	123	COG4826	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	83	cd02054	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	112	cd00172	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	74	cd02056	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	69	cd02050	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	75	cd02055	4502261,NP_000479
462	113936	Disease	p.Leu158Pro	VAR_007053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007053	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	74	cd02046	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	72	cd02048	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	77	cd02043	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	139	pfam00079	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	88	cd02052	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	157	cd02047	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	109	cd02058	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	108	cd02059	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	72	cd02057	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	86	cd02044	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	72	cd02053	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	85	cd02049	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	82	cd02045	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	188	smart00093	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	124	cd02051	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	125	COG4826	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	85	cd02054	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	114	cd00172	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	76	cd02056	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	69_G	cd02050	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	77	cd02055	4502261,NP_000479
462	113936	Disease	p.Cys160Tyr	VAR_027457	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027457	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	76	cd02046	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	73	cd02048	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	78	cd02043	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	140	pfam00079	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	89	cd02052	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	158	cd02047	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	110	cd02058	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	109	cd02059	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	73	cd02057	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	87	cd02044	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	73	cd02053	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	86	cd02049	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	83	cd02045	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	189	smart00093	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	125	cd02051	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	126	COG4826	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	86	cd02054	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	115	cd00172	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	77	cd02056	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	69_G	cd02050	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	78	cd02055	4502261,NP_000479
462	113936	Disease	p.Arg161Gln	VAR_007054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007054	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	77	cd02046	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	90	cd02048	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	102	cd02043	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	207	pfam00079	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	103	cd02052	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	174	cd02047	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	126	cd02058	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	125	cd02059	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	89	cd02057	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	103	cd02044	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	85	cd02053	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	102	cd02049	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	100	cd02045	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	218	smart00093	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	141	cd02051	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	142	COG4826	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	106	cd02054	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	160	cd00172	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	93	cd02056	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	83	cd02050	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	93	cd02055	4502261,NP_000479
462	113936	Disease	p.Leu178His	VAR_027458	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027458	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	94	cd02046	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	91	cd02048	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	103	cd02043	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	208	pfam00079	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	104	cd02052	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	175	cd02047	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	127	cd02058	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	126	cd02059	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	90	cd02057	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	104	cd02044	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	86	cd02053	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	103	cd02049	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	101	cd02045	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	219	smart00093	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	142	cd02051	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	143	COG4826	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	107	cd02054	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	161	cd00172	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	94	cd02056	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	84	cd02050	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	94	cd02055	4502261,NP_000479
462	113936	Disease	p.Phe179Leu	VAR_027459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027459	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	95	cd02046	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	110	cd02048	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	122	cd02043	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	240	pfam00079	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	123	cd02052	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	194	cd02047	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	146	cd02058	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	145	cd02059	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	109	cd02057	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	123	cd02044	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	105	cd02053	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	122	cd02049	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	120	cd02045	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	238	smart00093	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	161	cd02051	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	162	COG4826	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	133	cd02054	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	180	cd00172	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	113	cd02056	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	103	cd02050	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	113	cd02055	4502261,NP_000479
462	113936	Disease	p.Tyr198Cys	VAR_007056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007056	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	114	cd02046	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	110	cd02048	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	122	cd02043	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	240	pfam00079	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	123	cd02052	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	194	cd02047	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	146	cd02058	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	145	cd02059	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	109	cd02057	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	123	cd02044	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	105	cd02053	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	122	cd02049	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	120	cd02045	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	238	smart00093	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	161	cd02051	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	162	COG4826	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	133	cd02054	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	180	cd00172	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	113	cd02056	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	103	cd02050	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	113	cd02055	4502261,NP_000479
462	113936	Disease	p.Tyr198His	VAR_027460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027460	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	114	cd02046	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	125	cd02048	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	138	cd02043	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	264	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	139	cd02052	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	210	cd02047	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	162	cd02058	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	161	cd02059	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	125	cd02057	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	139	cd02044	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	119	cd02053	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	138_G	cd02049	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	136	cd02045	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	256	smart00093	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	176	cd02051	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	178	COG4826	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	145	cd02054	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	205	cd00172	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	128	cd02056	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	119	cd02050	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	128	cd02055	4502261,NP_000479
462	113936	Disease	p.Ser214Phe	VAR_027461	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027461	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	130	cd02046	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	125	cd02048	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	138	cd02043	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	264	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	139	cd02052	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	210	cd02047	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	162	cd02058	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	161	cd02059	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	125	cd02057	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	139	cd02044	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	119	cd02053	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	138_G	cd02049	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	136	cd02045	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	256	smart00093	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	176	cd02051	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	178	COG4826	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	145	cd02054	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	205	cd00172	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	128	cd02056	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	119	cd02050	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	128	cd02055	4502261,NP_000479
462	113936	Disease	p.Ser214Tyr	VAR_007057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007057	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	130	cd02046	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	130	cd02048	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	143	cd02043	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	269	pfam00079	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	144	cd02052	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	213	cd02047	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	167	cd02058	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	166	cd02059	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	130	cd02057	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	144	cd02044	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	124	cd02053	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	141	cd02049	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	141	cd02045	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	261	smart00093	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	181	cd02051	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	183	COG4826	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	150	cd02054	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	210	cd00172	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	133	cd02056	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	124	cd02050	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	133	cd02055	4502261,NP_000479
462	113936	Disease	p.Asn219Asp	VAR_007059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007059	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	134	cd02046	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	130	cd02048	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	143	cd02043	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	269	pfam00079	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	144	cd02052	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	213	cd02047	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	167	cd02058	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	166	cd02059	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	130	cd02057	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	144	cd02044	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	124	cd02053	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	141	cd02049	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	141	cd02045	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	261	smart00093	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	181	cd02051	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	183	COG4826	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	150	cd02054	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	210	cd00172	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	133	cd02056	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	124	cd02050	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	133	cd02055	4502261,NP_000479
462	113936	Disease	p.Asn219Lys	VAR_007058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007058	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	134	cd02046	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	134	cd02048	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	147	cd02043	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	273	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	148	cd02052	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	217	cd02047	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	171	cd02058	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	170	cd02059	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	134	cd02057	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	148	cd02044	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	128	cd02053	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	145	cd02049	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	145	cd02045	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	265	smart00093	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	185	cd02051	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	187	COG4826	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	154	cd02054	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	214	cd00172	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	137	cd02056	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	128	cd02050	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	137	cd02055	4502261,NP_000479
462	113936	Disease	p.Ser223Pro	VAR_027463	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027463	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	138	cd02046	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	154	cd02048	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	169	cd02043	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	313	pfam00079	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	167	cd02052	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	235	cd02047	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	191	cd02058	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	196	cd02059	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	154	cd02057	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	168	cd02044	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	146	cd02053	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	164	cd02049	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	165	cd02045	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	293	smart00093	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	206	cd02051	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	208	COG4826	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	172	cd02054	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	239	cd00172	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	155	cd02056	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	146	cd02050	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	155	cd02055	4502261,NP_000479
462	113936	Disease	p.Thr243Ile	VAR_027464	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027464	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	156	cd02046	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	162	cd02048	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	177	cd02043	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	321	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	175	cd02052	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	243	cd02047	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	199	cd02058	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	204	cd02059	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	162	cd02057	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	176	cd02044	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	154	cd02053	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	172	cd02049	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	173	cd02045	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	301	smart00093	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	214	cd02051	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	216	COG4826	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	180	cd02054	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	247	cd00172	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	163	cd02056	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	154	cd02050	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	163	cd02055	4502261,NP_000479
462	113936	Disease	p.Ile251Thr	VAR_027465	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027465	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	164	cd02046	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	168	cd02048	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	183	cd02043	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	327	pfam00079	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	181	cd02052	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	249	cd02047	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	205	cd02058	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	210	cd02059	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	168	cd02057	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	182	cd02044	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	160	cd02053	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	178	cd02049	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	179	cd02045	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	307	smart00093	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	220	cd02051	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	222	COG4826	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	186	cd02054	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	253	cd00172	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	169	cd02056	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	160	cd02050	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	169	cd02055	4502261,NP_000479
462	113936	Disease	p.Trp257Arg	VAR_027466	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027466	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	170	cd02046	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	172	cd02048	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	187	cd02043	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	333	pfam00079	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	185	cd02052	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	253	cd02047	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	209	cd02058	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	214	cd02059	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	172	cd02057	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	186	cd02044	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	164	cd02053	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	182	cd02049	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	183	cd02045	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	311	smart00093	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	224	cd02051	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	226	COG4826	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	190	cd02054	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	257	cd00172	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	173	cd02056	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	164	cd02050	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	173	cd02055	4502261,NP_000479
462	113936	Disease	p.Phe261Leu	VAR_027467	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027467	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	174	cd02046	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	180	cd02048	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	195	cd02043	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	342	pfam00079	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	193	cd02052	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	261	cd02047	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	217	cd02058	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	222	cd02059	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	179	cd02057	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	194	cd02044	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	172	cd02053	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	190	cd02049	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	191	cd02045	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	321	smart00093	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	232	cd02051	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	234	COG4826	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	198	cd02054	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	266	cd00172	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	181	cd02056	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	172	cd02050	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	181	cd02055	4502261,NP_000479
462	113936	Disease	p.Glu269Lys	VAR_007060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007060	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	182	cd02046	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	194	cd02048	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	209	cd02043	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	372	pfam00079	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	207	cd02052	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	275	cd02047	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	231	cd02058	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	236	cd02059	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	194	cd02057	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	208	cd02044	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	186	cd02053	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	204	cd02049	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	205	cd02045	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	337	smart00093	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	246	cd02051	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	248	COG4826	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	212	cd02054	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	283	cd00172	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	196	cd02056	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	186	cd02050	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	195	cd02055	4502261,NP_000479
462	113936	Disease	p.Met283Ile	VAR_007062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007062	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	196	cd02046	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	194	cd02048	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	209	cd02043	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	372	pfam00079	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	207	cd02052	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	275	cd02047	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	231	cd02058	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	236	cd02059	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	194	cd02057	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	208	cd02044	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	186	cd02053	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	204	cd02049	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	205	cd02045	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	337	smart00093	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	246	cd02051	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	248	COG4826	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	212	cd02054	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	283	cd00172	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	196	cd02056	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	186	cd02050	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	195	cd02055	4502261,NP_000479
462	113936	Disease	p.Met283Val	VAR_027468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027468	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	196	cd02046	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	222	cd02048	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	231	cd02043	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	423	pfam00079	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	228	cd02052	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	295	cd02047	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	251	cd02058	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	256	cd02059	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	214	cd02057	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	228	cd02044	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	207	cd02053	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	222	cd02049	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	225	cd02045	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	368	smart00093	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	269	cd02051	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	268	COG4826	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	232	cd02054	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	311	cd00172	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	217	cd02056	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	207	cd02050	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	215	cd02055	4502261,NP_000479
462	113936	Disease	p.Leu302Pro	VAR_007063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007063	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	217	cd02046	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	236	cd02048	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	257	cd02043	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	480	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	241	cd02052	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	308	cd02047	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	265	cd02058	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	270	cd02059	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	228	cd02057	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	243	cd02044	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	220	cd02053	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	237	cd02049	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	239	cd02045	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	390	smart00093	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	283	cd02051	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	283	COG4826	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	245	cd02054	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	345	cd00172	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	230	cd02056	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	220	cd02050	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	229	cd02055	4502261,NP_000479
462	113936	Disease	p.Ile316Asn	VAR_007064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007064	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	231	cd02046	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	243	cd02048	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	266	cd02043	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	503	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	249	cd02052	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	315	cd02047	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	276	cd02058	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	282	cd02059	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	239	cd02057	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	254	cd02044	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	228	cd02053	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	244	cd02049	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	246	cd02045	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	411	smart00093	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	289	cd02051	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	290	COG4826	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	252	cd02054	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	378	cd00172	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	240	cd02056	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	229	cd02050	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	236	cd02055	4502261,NP_000479
462	113936	Disease	p.Ser323Pro	VAR_027469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027469	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	238	cd02046	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	254	cd02048	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	279	cd02043	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	524	pfam00079	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	260	cd02052	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	326	cd02047	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	287	cd02058	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	293	cd02059	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	250	cd02057	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	265	cd02044	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	239	cd02053	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	255	cd02049	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	257	cd02045	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	425	smart00093	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	302	cd02051	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	301	COG4826	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	263	cd02054	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	393	cd00172	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	251	cd02056	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	240	cd02050	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	246	cd02055	4502261,NP_000479
462	113936	Disease	p.Glu334Lys	VAR_007065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007065	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	249	cd02046	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	300	cd02048	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	328	cd02043	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	615	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	308	cd02052	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	372	cd02047	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	336	cd02058	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	342	cd02059	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	299	cd02057	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	314	cd02044	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	283_G	cd02053	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	306	cd02049	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	304	cd02045	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	505	smart00093	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	349	cd02051	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	349	COG4826	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	315	cd02054	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	482	cd00172	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	301	cd02056	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	289	cd02050	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	292	cd02055	4502261,NP_000479
462	113936	Disease	p.Ser381Pro	VAR_007067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007067	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	296	cd02046	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	314	cd02048	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	347	cd02043	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	743	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	318	cd02052	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	385	cd02047	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	350	cd02058	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	356	cd02059	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	313	cd02057	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	328	cd02044	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	295	cd02053	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	324	cd02049	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	321	cd02045	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	524	smart00093	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	363	cd02051	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	363	COG4826	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	326	cd02054	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	656	cd00172	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	315	cd02056	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	303	cd02050	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	307	cd02055	4502261,NP_000479
462	113936	Disease	p.Ser397Pro	VAR_027470	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027470	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	310	cd02046	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	315	cd02048	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	348	cd02043	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	744	pfam00079	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	319	cd02052	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	386	cd02047	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	351	cd02058	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	357	cd02059	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	314	cd02057	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	329	cd02044	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	296	cd02053	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	325	cd02049	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	322	cd02045	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	525	smart00093	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	364	cd02051	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	364	COG4826	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	327	cd02054	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	657	cd00172	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	316	cd02056	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	304	cd02050	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	308	cd02055	4502261,NP_000479
462	113936	Disease	p.Asp398His	VAR_027471	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027471	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	311	cd02046	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	329	cd02048	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	362	cd02043	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	775	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	333	cd02052	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	400	cd02047	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	365	cd02058	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	371	cd02059	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	328	cd02057	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	343	cd02044	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	310	cd02053	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	339	cd02049	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	336	cd02045	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	542	smart00093	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	378	cd02051	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	378	COG4826	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	341	cd02054	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	674	cd00172	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	330	cd02056	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	318	cd02050	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	322	cd02055	4502261,NP_000479
462	113936	Disease	p.Ser412Arg	VAR_027472	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027472	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	325	cd02046	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	331	cd02048	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	364	cd02043	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	777	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	335	cd02052	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	402	cd02047	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	367	cd02058	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	373	cd02059	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	330	cd02057	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	345	cd02044	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	312	cd02053	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	341	cd02049	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	338	cd02045	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	544	smart00093	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	380	cd02051	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	380	COG4826	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	343	cd02054	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	676	cd00172	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	332	cd02056	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	320	cd02050	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	324	cd02055	4502261,NP_000479
462	113936	Disease	p.Ala414Thr	VAR_007069	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007069	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	327	cd02046	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	333	cd02048	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	366	cd02043	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	779	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	337	cd02052	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	404	cd02047	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	369	cd02058	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	375	cd02059	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	332	cd02057	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	347	cd02044	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	314	cd02053	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	343	cd02049	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	340	cd02045	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	546	smart00093	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	382	cd02051	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	382	COG4826	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	345	cd02054	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	678	cd00172	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	334	cd02056	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	322	cd02050	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	326	cd02055	4502261,NP_000479
462	113936	Disease	p.Ala416Pro	VAR_007070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007070	rs28930978 Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	329	cd02046	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	333	cd02048	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	366	cd02043	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	779	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	337	cd02052	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	404	cd02047	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	369	cd02058	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	375	cd02059	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	332	cd02057	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	347	cd02044	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	314	cd02053	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	343	cd02049	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	340	cd02045	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	546	smart00093	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	382	cd02051	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	382	COG4826	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	345	cd02054	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	678	cd00172	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	334	cd02056	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	322	cd02050	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	326	cd02055	4502261,NP_000479
462	113936	Disease	p.Ala416Ser	VAR_007071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007071	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	329	cd02046	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	336	cd02048	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	369	cd02043	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	782	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	340	cd02052	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	407	cd02047	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	372	cd02058	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	378	cd02059	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	332_G	cd02057	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	350	cd02044	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	317	cd02053	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	346	cd02049	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	343	cd02045	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	549	smart00093	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	385	cd02051	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	385	COG4826	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	348	cd02054	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	681	cd00172	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	337	cd02056	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	325	cd02050	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	329	cd02055	4502261,NP_000479
462	113936	Disease	p.Ala419Val	VAR_007072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007072	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	330_G	cd02046	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	342	cd02048	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	374	cd02043	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	787	pfam00079	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	345	cd02052	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	412	cd02047	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	377	cd02058	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	383	cd02059	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	336	cd02057	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	355	cd02044	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	321_G	cd02053	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	351	cd02049	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	348	cd02045	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	560	smart00093	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	390	cd02051	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	390	COG4826	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	350	cd02054	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	686	cd00172	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	342	cd02056	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	329_G	cd02050	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	334	cd02055	4502261,NP_000479
462	113936	Disease	p.Gly424Asp	VAR_007073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007073	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	333	cd02046	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	343	cd02048	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	375	cd02043	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	788	pfam00079	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	346	cd02052	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	413	cd02047	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	378	cd02058	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	384	cd02059	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	337	cd02057	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	356	cd02044	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	322	cd02053	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	352	cd02049	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	349	cd02045	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	561	smart00093	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	391	cd02051	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	391	COG4826	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	351	cd02054	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	687	cd00172	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	343	cd02056	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	330	cd02050	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	335	cd02055	4502261,NP_000479
462	113936	Disease	p.Arg425Cys	VAR_007075	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007075	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	334	cd02046	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	343	cd02048	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	375	cd02043	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	788	pfam00079	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	346	cd02052	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	413	cd02047	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	378	cd02058	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	384	cd02059	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	337	cd02057	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	356	cd02044	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	322	cd02053	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	352	cd02049	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	349	cd02045	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	561	smart00093	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	391	cd02051	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	391	COG4826	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	351	cd02054	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	687	cd00172	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	343	cd02056	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	330	cd02050	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	335	cd02055	4502261,NP_000479
462	113936	Disease	p.Arg425His	VAR_007074	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007074	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	334	cd02046	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	343	cd02048	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	375	cd02043	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	788	pfam00079	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	346	cd02052	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	413	cd02047	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	378	cd02058	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	384	cd02059	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	337	cd02057	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	356	cd02044	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	322	cd02053	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	352	cd02049	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	349	cd02045	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	561	smart00093	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	391	cd02051	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	391	COG4826	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	351	cd02054	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	687	cd00172	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	343	cd02056	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	330	cd02050	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	335	cd02055	4502261,NP_000479
462	113936	Disease	p.Arg425Pro	VAR_007076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007076	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	334	cd02046	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	344	cd02048	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	376	cd02043	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	789	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	347	cd02052	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	414	cd02047	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	379	cd02058	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	385	cd02059	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	338	cd02057	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	357	cd02044	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	324	cd02053	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	353	cd02049	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	350	cd02045	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	562	smart00093	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	392	cd02051	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	392	COG4826	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	352	cd02054	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	688	cd00172	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	344	cd02056	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	331	cd02050	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	336	cd02055	4502261,NP_000479
462	113936	Disease	p.Ser426Leu	VAR_007077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007077	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	335	cd02046	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	351_G	cd02048	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	389	cd02043	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	839	pfam00079	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	352	cd02052	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	419	cd02047	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	386	cd02058	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	393	cd02059	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	345	cd02057	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	364	cd02044	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	328	cd02053	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	364	cd02049	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	358	cd02045	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	626	smart00093	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	399	cd02051	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	404	COG4826	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	361	cd02054	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	716	cd00172	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	353	cd02056	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	335	cd02050	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	341	cd02055	4502261,NP_000479
462	113936	Disease	p.Phe434Cys	VAR_007078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007078	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	343	cd02046	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	351_G	cd02048	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	389	cd02043	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	839	pfam00079	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	352	cd02052	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	419	cd02047	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	386	cd02058	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	393	cd02059	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	345	cd02057	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	364	cd02044	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	328	cd02053	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	364	cd02049	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	358	cd02045	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	626	smart00093	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	399	cd02051	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	404	COG4826	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	361	cd02054	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	716	cd00172	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	353	cd02056	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	335	cd02050	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	341	cd02055	4502261,NP_000479
462	113936	Disease	p.Phe434Leu	VAR_007080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007080	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	343	cd02046	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	351_G	cd02048	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	389	cd02043	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	839	pfam00079	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	352	cd02052	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	419	cd02047	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	386	cd02058	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	393	cd02059	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	345	cd02057	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	364	cd02044	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	328	cd02053	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	364	cd02049	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	358	cd02045	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	626	smart00093	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	399	cd02051	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	404	COG4826	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	361	cd02054	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	716	cd00172	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	353	cd02056	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	335	cd02050	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	341	cd02055	4502261,NP_000479
462	113936	Disease	p.Phe434Ser	VAR_007079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007079	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	343	cd02046	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	352	cd02048	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	391	cd02043	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	841	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	354	cd02052	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	421	cd02047	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	388	cd02058	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	395	cd02059	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	347	cd02057	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	366	cd02044	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	330	cd02053	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	366	cd02049	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	360	cd02045	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	628	smart00093	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	399_G	cd02051	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	406	COG4826	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	361_G	cd02054	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	718	cd00172	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	355	cd02056	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	337	cd02050	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	343	cd02055	4502261,NP_000479
462	113936	Disease	p.Ala436Thr	VAR_007081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007081	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	345	cd02046	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	353	cd02048	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	392	cd02043	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	842	pfam00079	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	355	cd02052	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	422	cd02047	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	389	cd02058	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	396	cd02059	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	348	cd02057	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	367	cd02044	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	331	cd02053	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	367	cd02049	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	361	cd02045	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	629	smart00093	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	400	cd02051	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	407	COG4826	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	362	cd02054	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	719	cd00172	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	356	cd02056	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	338	cd02050	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	344	cd02055	4502261,NP_000479
462	113936	Disease	p.Asn437Lys	VAR_007082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007082	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	346	cd02046	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	354	cd02048	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	393	cd02043	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	843	pfam00079	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	356	cd02052	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	423	cd02047	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	390	cd02058	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	397	cd02059	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	349	cd02057	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	368	cd02044	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	332	cd02053	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	368	cd02049	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	362	cd02045	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	630	smart00093	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	401	cd02051	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	408	COG4826	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	363	cd02054	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	720	cd00172	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	357	cd02056	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	339	cd02050	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	345	cd02055	4502261,NP_000479
462	113936	Disease	p.Arg438Gly	VAR_009258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009258	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	347	cd02046	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	354	cd02048	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	393	cd02043	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	843	pfam00079	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	356	cd02052	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	423	cd02047	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	390	cd02058	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	397	cd02059	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	349	cd02057	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	368	cd02044	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	332	cd02053	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	368	cd02049	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	362	cd02045	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	630	smart00093	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	401	cd02051	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	408	COG4826	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	363	cd02054	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	720	cd00172	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	357	cd02056	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	339	cd02050	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	345	cd02055	4502261,NP_000479
462	113936	Disease	p.Arg438Met	VAR_007083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007083	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	347	cd02046	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	355	cd02048	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	394	cd02043	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	844	pfam00079	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	357	cd02052	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	424	cd02047	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	391	cd02058	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	398	cd02059	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	350	cd02057	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	369	cd02044	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	333	cd02053	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	369	cd02049	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	363	cd02045	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	631	smart00093	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	402	cd02051	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	409	COG4826	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	364	cd02054	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	721	cd00172	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	358	cd02056	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	340	cd02050	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	346	cd02055	4502261,NP_000479
462	113936	Disease	p.Pro439Leu	VAR_007084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007084	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	348	cd02046	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	355	cd02048	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	394	cd02043	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	844	pfam00079	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	357	cd02052	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	424	cd02047	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	391	cd02058	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	398	cd02059	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	350	cd02057	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	369	cd02044	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	333	cd02053	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	369	cd02049	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	363	cd02045	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	631	smart00093	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	402	cd02051	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	409	COG4826	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	364	cd02054	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	721	cd00172	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	358	cd02056	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	340	cd02050	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	346	cd02055	4502261,NP_000479
462	113936	Disease	p.Pro439Thr	VAR_007085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007085	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	348	cd02046	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	357	cd02048	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	396	cd02043	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	846	pfam00079	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	359	cd02052	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	426	cd02047	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	393	cd02058	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	400	cd02059	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	352	cd02057	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	371	cd02044	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	335	cd02053	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	371	cd02049	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	365	cd02045	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	633	smart00093	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	404	cd02051	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	411	COG4826	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	366	cd02054	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	723	cd00172	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	360	cd02056	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	342	cd02050	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	348	cd02055	4502261,NP_000479
462	113936	Disease	p.Leu441Pro	VAR_027473	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027473	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	350	cd02046	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	369	cd02048	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	408	cd02043	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	882	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	371	cd02052	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	438	cd02047	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	405	cd02058	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	412	cd02059	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	364	cd02057	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	383	cd02044	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	347_G	cd02053	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	383	cd02049	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	377	cd02045	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	645	smart00093	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	416	cd02051	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	423	COG4826	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	378	cd02054	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	736	cd00172	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	372	cd02056	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	354_G	cd02050	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	360	cd02055	4502261,NP_000479
462	113936	Disease	p.Ile453Thr	VAR_007086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007086	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	362	cd02046	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	372	cd02048	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	411	cd02043	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	885	pfam00079	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	374	cd02052	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	441	cd02047	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	408	cd02058	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	415	cd02059	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	367	cd02057	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	386	cd02044	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	350	cd02053	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	386	cd02049	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	380	cd02045	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	648	smart00093	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	419	cd02051	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	426	COG4826	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	381	cd02054	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	739	cd00172	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	375	cd02056	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	357	cd02050	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	363	cd02055	4502261,NP_000479
462	113936	Disease	p.Gly456Arg	VAR_007087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007087	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	365	cd02046	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	373	cd02048	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	412	cd02043	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	889	pfam00079	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	375	cd02052	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	442	cd02047	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	409	cd02058	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	416	cd02059	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	368	cd02057	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	387	cd02044	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	351	cd02053	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	387	cd02049	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	381	cd02045	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	649	smart00093	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	420	cd02051	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	427	COG4826	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	382	cd02054	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	740	cd00172	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	376	cd02056	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	358	cd02050	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	364	cd02055	4502261,NP_000479
462	113936	Disease	p.Arg457Thr	VAR_007088	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007088	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	366	cd02046	4502261,NP_000479
462	113936	Disease	p.Ala459Asp	VAR_007090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007090	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	375	cd02048	4502261,NP_000479
462	113936	Disease	p.Ala459Asp	VAR_007090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007090	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	414	cd02043	4502261,NP_000479
462	113936	Disease	p.Ala459Asp	VAR_007090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007090	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	891	pfam00079	4502261,NP_000479
462	113936	Disease	p.Ala459Asp	VAR_007090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007090	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	377	cd02052	4502261,NP_000479
462	113936	Disease	p.Ala459Asp	VAR_007090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007090	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	444	cd02047	4502261,NP_000479
462	113936	Disease	p.Ala459Asp	VAR_007090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007090	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	411	cd02058	4502261,NP_000479
462	113936	Disease	p.Ala459Asp	VAR_007090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007090	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	418	cd02059	4502261,NP_000479
462	113936	Disease	p.Ala459Asp	VAR_007090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007090	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	370	cd02057	4502261,NP_000479
462	113936	Disease	p.Ala459Asp	VAR_007090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007090	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	389	cd02044	4502261,NP_000479
462	113936	Disease	p.Ala459Asp	VAR_007090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007090	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	651	smart00093	4502261,NP_000479
462	113936	Disease	p.Ala459Asp	VAR_007090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007090	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	422	cd02051	4502261,NP_000479
462	113936	Disease	p.Ala459Asp	VAR_007090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007090	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	429	COG4826	4502261,NP_000479
462	113936	Disease	p.Ala459Asp	VAR_007090	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007090	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	384	cd02054	4502261,NP_000479
462	113936	Disease	p.Pro461Leu	VAR_007091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007091	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	446	cd02047	4502261,NP_000479
462	113936	Disease	p.Pro461Leu	VAR_007091	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007091	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	431	COG4826	4502261,NP_000479
462	113936	Disease	p.Cys462Phe	VAR_007092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007092	- Antithrombin III deficiency (AT3D) [MIM:613118]	SWISS	432	COG4826	4502261,NP_000479
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	140	pfam00079	NULL
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	81	cd02046	NULL
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	77_G	cd02048	NULL
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	72	cd02050	NULL
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	125	cd02051	NULL
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	89	cd02052	NULL
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	77	cd02056	NULL
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	115	cd00172	NULL
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	83	cd02045	NULL
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	189	smart00093	NULL
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	101	cd02054	NULL
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	78	cd02055	NULL
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	79	cd02043	NULL
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	126	COG4826	NULL
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	158	cd02047	NULL
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	109	cd02059	NULL
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	110	cd02058	NULL
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	80	cd02057	NULL
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	87	cd02044	NULL
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	69_G	cd02053	NULL
3053	123055	Disease	p.Arg208His	VAR_007112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007112	rs5907 Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	86	cd02049	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	758	pfam00079	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	322	cd02046	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	326	cd02048	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	315	cd02050	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	375	cd02051	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	330	cd02052	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	327	cd02056	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	668	cd00172	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	333	cd02045	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	539	smart00093	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	338	cd02054	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	319	cd02055	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	359	cd02043	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	375	COG4826	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	397	cd02047	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	368	cd02059	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	362	cd02058	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	325	cd02057	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	340	cd02044	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	307	cd02053	NULL
3053	123055	Disease	p.Glu447Lys	VAR_054977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054977	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	336	cd02049	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	787	pfam00079	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	336	cd02046	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	344	cd02048	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	329_G	cd02050	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	390	cd02051	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	345	cd02052	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	342	cd02056	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	686	cd00172	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	348	cd02045	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	560	smart00093	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	353	cd02054	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	334	cd02055	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	374	cd02043	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	390	COG4826	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	412	cd02047	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	383	cd02059	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	376	cd02058	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	338	cd02057	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	355	cd02044	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	322	cd02053	NULL
3053	123055	Disease	p.Pro462Leu	VAR_054978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054978	- Heparin cofactor 2 deficiency (HCF2D) [MIM:612356]	SWISS	355	cd02049	NULL
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	391	cd02043	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	841	pfam00079	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	337	cd02050	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	355	cd02056	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	718	cd00172	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	352	cd02048	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	628	smart00093	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	399	cd02051	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	345	cd02046	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	360	cd02045	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	354	cd02052	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	343	cd02055	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	361	cd02054	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	406	COG4826	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	421	cd02047	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	395	cd02059	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	347	cd02057	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	366	cd02044	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	388	cd02058	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	330	cd02053	260064048,NP_001159392|115583663,NP_000925
5345	112907	Disease	p.Val411Met	VAR_013255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013255	- Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]	SWISS	366	cd02049	260064048,NP_001159392|115583663,NP_000925
710	124096	Disease	p.Cys130Tyr	VAR_027379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027379	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	64	cd02047	NULL
710	124096	Disease	p.Cys130Tyr	VAR_027379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027379	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	27	COG4826	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	222	cd02049	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	207	cd02053	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	225	cd02045	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	250_G	cd02058	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	256	cd02059	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	228	cd02044	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	214	cd02057	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	228	cd02052	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	295	cd02047	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	221_G	cd02048	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	256	cd02051	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	217	cd02056	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	207	cd02050	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	311	cd00172	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	268	COG4826	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	368	smart00093	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	423	pfam00079	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	215	cd02055	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	232	cd02054	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	231	cd02043	NULL
710	124096	Disease	p.Gly345Arg	VAR_027376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027376	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	217	cd02046	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	272	cd02049	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	251	cd02053	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	272_G	cd02045	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	304_G	cd02058	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	309	cd02059	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	282	cd02044	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	267_G	cd02057	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	274_G	cd02052	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	339	cd02047	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	268	cd02048	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	316	cd02051	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	270_G	cd02056	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	257	cd02050	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	426	cd00172	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	317_G	COG4826	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	452	smart00093	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	551	pfam00079	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	260	cd02055	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	278_G	cd02054	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	293	cd02043	NULL
710	124096	Disease	p.Thr394Pro	VAR_027380	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027380	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	263	cd02046	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	287	cd02049	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	265	cd02053	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	285	cd02045	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	317	cd02058	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	323	cd02059	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	295	cd02044	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	280	cd02057	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	288	cd02052	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	354	cd02047	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	282	cd02048	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	330	cd02051	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	283	cd02056	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	272	cd02050	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	445	cd00172	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	330	COG4826	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	469	smart00093	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	583	pfam00079	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	274	cd02055	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	291	cd02054	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	309	cd02043	NULL
710	124096	Disease	p.Asp408Val	VAR_027381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027381	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	277	cd02046	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	315	cd02049	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	286	cd02053	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	308	cd02045	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	340	cd02058	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	346	cd02059	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	318	cd02044	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	303	cd02057	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	309	cd02052	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	376	cd02047	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	304	cd02048	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	353	cd02051	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	305	cd02056	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	293	cd02050	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	484	cd00172	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	353	COG4826	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	509	smart00093	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	624	pfam00079	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	296	cd02055	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	316	cd02054	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	332	cd02043	NULL
710	124096	Disease	p.Gly429Arg	VAR_007013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007013	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	300	cd02046	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	339	cd02049	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	310	cd02053	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	336	cd02045	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	365	cd02058	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	371	cd02059	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	343	cd02044	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	328	cd02057	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	333	cd02052	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	400	cd02047	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	329	cd02048	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	378	cd02051	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	330	cd02056	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	318	cd02050	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	674	cd00172	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	378	COG4826	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	542	smart00093	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	775	pfam00079	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	322	cd02055	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	341	cd02054	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	362	cd02043	NULL
710	124096	Disease	p.Val454Glu	VAR_007014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007014	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	326	cd02046	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	341	cd02049	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	312	cd02053	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	338	cd02045	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	367	cd02058	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	373	cd02059	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	345	cd02044	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	330	cd02057	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	335	cd02052	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	402	cd02047	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	331	cd02048	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	380	cd02051	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	332	cd02056	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	320	cd02050	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	676	cd00172	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	380	COG4826	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	544	smart00093	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	777	pfam00079	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	324	cd02055	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	342_G	cd02054	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	364	cd02043	NULL
710	124096	Disease	p.Ala456Glu	VAR_007015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007015	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	328	cd02046	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	343	cd02049	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	314	cd02053	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	340	cd02045	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	369	cd02058	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	375	cd02059	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	347	cd02044	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	331_G	cd02057	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	337	cd02052	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	404	cd02047	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	333	cd02048	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	382	cd02051	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	334	cd02056	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	322	cd02050	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	678	cd00172	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	382	COG4826	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	546	smart00093	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	779	pfam00079	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	326	cd02055	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	344	cd02054	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	366	cd02043	NULL
710	124096	Disease	p.Ala458Thr	VAR_007016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007016	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	330	cd02046	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	343	cd02049	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	314	cd02053	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	340	cd02045	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	369	cd02058	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	375	cd02059	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	347	cd02044	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	331_G	cd02057	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	337	cd02052	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	404	cd02047	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	333	cd02048	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	382	cd02051	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	334	cd02056	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	322	cd02050	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	678	cd00172	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	382	COG4826	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	546	smart00093	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	779	pfam00079	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	326	cd02055	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	344	cd02054	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	366	cd02043	NULL
710	124096	Disease	p.Ala458Val	VAR_007017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007017	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	330	cd02046	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	350	cd02049	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	321	cd02053	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	347	cd02045	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	376	cd02058	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	382	cd02059	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	355	cd02044	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	336	cd02057	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	344	cd02052	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	411	cd02047	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	340	cd02048	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	390	cd02051	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	343	cd02056	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	329	cd02050	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	685	cd00172	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	394	COG4826	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	555	smart00093	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	786	pfam00079	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	335	cd02055	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	351	cd02054	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	373	cd02043	NULL
710	124096	Disease	p.Ala465Val	VAR_007018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007018	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	337	cd02046	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	351	cd02049	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	322	cd02053	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	349	cd02045	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	377	cd02058	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	383	cd02059	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	356	cd02044	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	337	cd02057	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	346	cd02052	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	414	cd02047	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	345	cd02048	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	391	cd02051	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	344	cd02056	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	330	cd02050	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	686	cd00172	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	395	COG4826	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	560	smart00093	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	787	pfam00079	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	336	cd02055	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	352	cd02054	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	374	cd02043	NULL
710	124096	Disease	p.Arg466Cys	VAR_007019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007019	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	338	cd02046	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	351	cd02049	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	322	cd02053	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	349	cd02045	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	377	cd02058	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	383	cd02059	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	356	cd02044	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	337	cd02057	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	346	cd02052	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	414	cd02047	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	345	cd02048	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	391	cd02051	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	344	cd02056	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	330	cd02050	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	686	cd00172	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	395	COG4826	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	560	smart00093	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	787	pfam00079	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	336	cd02055	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	352	cd02054	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	374	cd02043	NULL
710	124096	Disease	p.Arg466His	VAR_007020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007020	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	338	cd02046	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	351	cd02049	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	322	cd02053	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	349	cd02045	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	377	cd02058	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	383	cd02059	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	356	cd02044	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	337	cd02057	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	346	cd02052	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	414	cd02047	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	345	cd02048	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	391	cd02051	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	344	cd02056	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	330	cd02050	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	686	cd00172	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	395	COG4826	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	560	smart00093	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	787	pfam00079	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	336	cd02055	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	352	cd02054	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	374	cd02043	NULL
710	124096	Disease	p.Arg466Leu	VAR_007021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007021	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	338	cd02046	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	351	cd02049	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	322	cd02053	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	349	cd02045	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	377	cd02058	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	383	cd02059	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	356	cd02044	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	337	cd02057	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	346	cd02052	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	414	cd02047	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	345	cd02048	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	391	cd02051	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	344	cd02056	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	330	cd02050	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	686	cd00172	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	395	COG4826	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	560	smart00093	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	787	pfam00079	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	336	cd02055	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	352	cd02054	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	374	cd02043	NULL
710	124096	Disease	p.Arg466Ser	VAR_007022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007022	rs28940870 Hereditary angioedema (HAE) [MIM:106100]	SWISS	338	cd02046	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	352	cd02049	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	324	cd02053	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	350	cd02045	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	378	cd02058	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	384	cd02059	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	357	cd02044	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	338	cd02057	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	347	cd02052	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	415	cd02047	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	346	cd02048	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	392	cd02051	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	349	cd02056	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	331	cd02050	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	712	cd00172	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	396	COG4826	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	561	smart00093	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	835	pfam00079	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	337	cd02055	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	353	cd02054	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	375	cd02043	NULL
710	124096	Disease	p.Thr467Pro	VAR_007023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007023	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	339	cd02046	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	366	cd02049	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	330	cd02053	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	360	cd02045	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	384	cd02058	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	395	cd02059	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	366	cd02044	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	347	cd02057	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	354	cd02052	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	421	cd02047	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	352	cd02048	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	399	cd02051	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	355	cd02056	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	337	cd02050	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	718	cd00172	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	406	COG4826	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	628	smart00093	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	841	pfam00079	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	343	cd02055	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	359	cd02054	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	386	cd02043	NULL
710	124096	Disease	p.Val473Glu	VAR_027382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027382	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	345	cd02046	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	366	cd02049	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	330	cd02053	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	360	cd02045	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	384	cd02058	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	395	cd02059	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	366	cd02044	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	347	cd02057	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	354	cd02052	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	421	cd02047	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	352	cd02048	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	399	cd02051	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	355	cd02056	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	337	cd02050	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	718	cd00172	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	406	COG4826	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	628	smart00093	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	841	pfam00079	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	343	cd02055	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	359	cd02054	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	386	cd02043	NULL
710	124096	Disease	p.Val473Met	VAR_007024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007024	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	345	cd02046	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	370	cd02049	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	334	cd02053	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	364	cd02045	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	392	cd02058	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	399	cd02059	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	370	cd02044	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	351	cd02057	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	358	cd02052	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	425	cd02047	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	356	cd02048	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	403	cd02051	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	359	cd02056	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	341	cd02050	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	722	cd00172	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	410	COG4826	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	632	smart00093	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	845	pfam00079	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	347	cd02055	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	365	cd02054	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	395	cd02043	NULL
710	124096	Disease	p.Phe477Ser	VAR_007026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007026	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	349	cd02046	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	374	cd02049	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	338	cd02053	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	368	cd02045	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	396	cd02058	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	403	cd02059	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	374	cd02044	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	355	cd02057	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	362	cd02052	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	429	cd02047	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	360	cd02048	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	407	cd02051	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	363	cd02056	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	345	cd02050	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	726	cd00172	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	414	COG4826	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	636	smart00093	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	849	pfam00079	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	351	cd02055	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	369	cd02054	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	399	cd02043	NULL
710	124096	Disease	p.Leu481Pro	VAR_007028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007028	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	353	cd02046	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	374	cd02049	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	338	cd02053	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	368	cd02045	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	396	cd02058	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	403	cd02059	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	374	cd02044	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	355	cd02057	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	362	cd02052	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	429	cd02047	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	360	cd02048	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	407	cd02051	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	363	cd02056	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	345	cd02050	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	726	cd00172	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	414	COG4826	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	636	smart00093	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	849	pfam00079	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	351	cd02055	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	369	cd02054	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	399	cd02043	NULL
710	124096	Disease	p.Leu481Arg	VAR_007029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007029	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	353	cd02046	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	382	cd02049	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	346	cd02053	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	376	cd02045	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	404	cd02058	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	411	cd02059	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	382	cd02044	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	363	cd02057	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	370	cd02052	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	437	cd02047	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	368	cd02048	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	415	cd02051	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	371	cd02056	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	353	cd02050	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	735	cd00172	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	422	COG4826	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	644	smart00093	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	881	pfam00079	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	359	cd02055	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	377	cd02054	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	407	cd02043	NULL
710	124096	Disease	p.Pro489Arg	VAR_007030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007030	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	361	cd02046	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	386	cd02049	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	350	cd02053	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	380	cd02045	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	408	cd02058	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	415	cd02059	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	386	cd02044	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	367	cd02057	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	374	cd02052	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	441	cd02047	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	372	cd02048	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	419	cd02051	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	375	cd02056	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	357	cd02050	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	739	cd00172	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	426	COG4826	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	648	smart00093	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	885	pfam00079	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	363	cd02055	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	381	cd02054	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	411	cd02043	NULL
710	124096	Disease	p.Gly493Glu	VAR_027383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027383	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	365	cd02046	NULL
710	124096	Disease	p.Pro498Arg	VAR_027384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027384	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	446	cd02047	NULL
710	124096	Disease	p.Pro498Arg	VAR_027384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027384	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	377	cd02048	NULL
710	124096	Disease	p.Pro498Arg	VAR_027384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027384	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	431	COG4826	NULL
710	124096	Disease	p.Pro498Ser	VAR_007031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007031	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	446	cd02047	NULL
710	124096	Disease	p.Pro498Ser	VAR_007031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007031	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	377	cd02048	NULL
710	124096	Disease	p.Pro498Ser	VAR_007031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007031	- Hereditary angioedema (HAE) [MIM:106100]	SWISS	431	COG4826	NULL
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	28	cd02057	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	31	cd02054	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	28	cd02044	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	33	cd00172	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	26	cd02050	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	28	cd02056	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	42	cd02052	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	28	cd02053	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	79	COG4826	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	39	pfam00079	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	28	cd02058	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	30	cd02043	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	28	cd02059	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	39	cd02049	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	33	cd02045	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	27	cd02048	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	34	cd02051	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	104	cd02047	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	30	smart00093	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	28	cd02055	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser49Pro	VAR_008520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008520	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	30	cd02046	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	31	cd02057	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	34	cd02054	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	31	cd02044	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	36	cd00172	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	29	cd02050	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	31	cd02056	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	45	cd02052	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	31	cd02053	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	82	COG4826	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	42	pfam00079	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	31	cd02058	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	33	cd02043	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	31	cd02059	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	42	cd02049	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	36	cd02045	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	30	cd02048	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	37	cd02051	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	107	cd02047	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	33	smart00093	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	31	cd02055	4826904,NP_005016|170295807,NP_001116224
5274	3183087	Disease	p.Ser52Arg	VAR_008521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008521	- Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]	SWISS	33	cd02046	4826904,NP_005016|170295807,NP_001116224
23064	296453021	Disease	p.Thr3Ile	VAR_018776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018776	rs28941475 Amyotrophic lateral sclerosis type 4 (ALS4) [MIM:602433]	SWISS	No Domain	N/A	113722133,NP_055861
23064	296453021	Disease	p.Met274Ile	VAR_036646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036646	- Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]	SWISS	No Domain	N/A	113722133,NP_055861
23064	296453021	Disease	p.Trp305Cys	VAR_018777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018777	- Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]	SWISS	No Domain	N/A	113722133,NP_055861
23064	296453021	Disease	p.Arg332Trp	VAR_018778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018778	rs29001665 Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]	SWISS	No Domain	N/A	113722133,NP_055861
23064	296453021	Disease	p.Leu389Ser	VAR_018779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018779	rs29001584 Amyotrophic lateral sclerosis type 4 (ALS4) [MIM:602433]	SWISS	No Domain	N/A	113722133,NP_055861
23064	296453021	Disease	p.Pro413Leu	VAR_018780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018780	- Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]	SWISS	No Domain	N/A	113722133,NP_055861
23064	296453021	Disease	p.Asn603Asp	VAR_036647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036647	- Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]	SWISS	No Domain	N/A	113722133,NP_055861
23064	296453021	Disease	p.Gln653Lys	VAR_036648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036648	- Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]	SWISS	No Domain	N/A	113722133,NP_055861
23064	296453021	Disease	p.Arg1294Cys	VAR_036649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036649	- Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]	SWISS	No Domain	N/A	113722133,NP_055861
23064	296453021	Disease	p.Phe1756Ser	VAR_018788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018788	- Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]	SWISS	137	COG1112	113722133,NP_055861
23064	296453021	Disease	p.Arg2136His	VAR_018790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018790	- Amyotrophic lateral sclerosis type 4 (ALS4) [MIM:602433]	SWISS	616	COG1112	113722133,NP_055861
23064	296453021	Disease	p.Pro2213Leu	VAR_018791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018791	rs28940290 Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]	SWISS	710	COG1112	113722133,NP_055861
23064	296453021	Disease	p.Pro2368Arg	VAR_036650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036650	- Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]	SWISS	921	COG1112	113722133,NP_055861
729238	60416439	Disease	p.Phe198Ser	VAR_063519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063519	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	89	cd03594	NULL
729238	60416439	Disease	p.Phe198Ser	VAR_063519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063519	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	109	cd03589	NULL
729238	60416439	Disease	p.Phe198Ser	VAR_063519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063519	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	82	cd03601	NULL
729238	60416439	Disease	p.Phe198Ser	VAR_063519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063519	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	73	cd03602	NULL
729238	60416439	Disease	p.Phe198Ser	VAR_063519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063519	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	104	cd03603	NULL
729238	60416439	Disease	p.Phe198Ser	VAR_063519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063519	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	156	cd00037	NULL
729238	60416439	Disease	p.Phe198Ser	VAR_063519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063519	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	72	cd03598	NULL
729238	60416439	Disease	p.Phe198Ser	VAR_063519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063519	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	66	cd03592	NULL
729238	60416439	Disease	p.Phe198Ser	VAR_063519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063519	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	66	cd03591	NULL
729238	60416439	Disease	p.Phe198Ser	VAR_063519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063519	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	66	pfam00059	NULL
729238	60416439	Disease	p.Phe198Ser	VAR_063519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063519	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	85	cd03590	NULL
729238	60416439	Disease	p.Phe198Ser	VAR_063519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063519	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	75	cd03596	NULL
729238	60416439	Disease	p.Phe198Ser	VAR_063519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063519	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	69	cd03588	NULL
729238	60416439	Disease	p.Phe198Ser	VAR_063519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063519	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	225	smart00034	NULL
729238	60416439	Disease	p.Gly231Val	VAR_063520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063520	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	124	cd03594	NULL
729238	60416439	Disease	p.Gly231Val	VAR_063520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063520	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	149	cd03589	NULL
729238	60416439	Disease	p.Gly231Val	VAR_063520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063520	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	134	cd03601	NULL
729238	60416439	Disease	p.Gly231Val	VAR_063520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063520	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	118	cd03602	NULL
729238	60416439	Disease	p.Gly231Val	VAR_063520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063520	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	190	cd03603	NULL
729238	60416439	Disease	p.Gly231Val	VAR_063520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063520	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	254	cd00037	NULL
729238	60416439	Disease	p.Gly231Val	VAR_063520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063520	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	108	cd03598	NULL
729238	60416439	Disease	p.Gly231Val	VAR_063520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063520	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	106	cd03592	NULL
729238	60416439	Disease	p.Gly231Val	VAR_063520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063520	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	103	cd03591	NULL
729238	60416439	Disease	p.Gly231Val	VAR_063520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063520	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	123	pfam00059	NULL
729238	60416439	Disease	p.Gly231Val	VAR_063520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063520	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	143	cd03590	NULL
729238	60416439	Disease	p.Gly231Val	VAR_063520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063520	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	129	cd03596	NULL
729238	60416439	Disease	p.Gly231Val	VAR_063520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063520	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	106	cd03588	NULL
729238	60416439	Disease	p.Gly231Val	VAR_063520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063520	- Pulmonary fibrosis idiopathic (IPF) [MIM:178500]	SWISS	311	smart00034	NULL
6439	131418	Disease	p.Arg236Cys	VAR_036856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036856	- Pulmonary surfactant metabolism dysfunction type 1 (SMDP1) [MIM:265120]	SWISS	45	smart00741	NULL
6440	131425	Disease	p.Glu66Lys	VAR_036855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036855	- Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913]	SWISS	66	smart00019	NULL
6440	131425	Disease	p.Glu66Lys	VAR_036855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036855	- Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913]	SWISS	66	pfam08999	NULL
6440	131425	Disease	p.Ile73Thr	VAR_026753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026753	- Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913]	SWISS	73	smart00019	NULL
6440	131425	Disease	p.Ile73Thr	VAR_026753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026753	- Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913]	SWISS	73	pfam08999	NULL
6440	131425	Disease	p.Ala116Asp	VAR_026754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026754	- Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913]	SWISS	116	smart00019	NULL
6440	131425	Disease	p.Ala116Asp	VAR_026754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026754	- Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913]	SWISS	23	pfam04089	NULL
6440	131425	Disease	p.Arg167Gln	VAR_026755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026755	rs34957318 Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913]	SWISS	167	smart00019	NULL
6440	131425	Disease	p.Arg167Gln	VAR_026755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026755	rs34957318 Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913]	SWISS	74	pfam04089	NULL
6440	131425	Disease	p.Leu188Gln	VAR_026756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026756	- Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913]	SWISS	190	smart00019	NULL
6440	131425	Disease	p.Leu188Gln	VAR_026756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026756	- Pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913]	SWISS	99	pfam04089	NULL
6442	13431858	Disease	p.Pro30Leu	VAR_010402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010402	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	35	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Pro30Leu	VAR_010402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010402	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	2	smart00736	4506911,NP_000014
6442	13431858	Disease	p.Leu31Pro	VAR_010403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010403	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	36	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Leu31Pro	VAR_010403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010403	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	3	smart00736	4506911,NP_000014
6442	13431858	Disease	p.Arg34Cys	VAR_010404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010404	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	39	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Arg34Cys	VAR_010404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010404	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	6	smart00736	4506911,NP_000014
6442	13431858	Disease	p.Arg34His	VAR_010405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010405	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	39	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Arg34His	VAR_010405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010405	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	6	smart00736	4506911,NP_000014
6442	13431858	Disease	p.Tyr62His	VAR_010406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010406	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	70	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Tyr62His	VAR_010406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010406	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	53	smart00736	4506911,NP_000014
6442	13431858	Disease	p.Gly68Glu	VAR_010407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010407	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	76	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Gly68Glu	VAR_010407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010407	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	63	smart00736	4506911,NP_000014
6442	13431858	Disease	p.Arg74Trp	VAR_010408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010408	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	82	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Arg74Trp	VAR_010408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010408	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	76	smart00736	4506911,NP_000014
6442	13431858	Disease	p.Arg77Cys	VAR_010387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010387	rs28933693 Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	85	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Arg77Cys	VAR_010387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010387	rs28933693 Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	82	smart00736	4506911,NP_000014
6442	13431858	Disease	p.Leu89Pro	VAR_010409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010409	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	97	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Leu89Pro	VAR_010409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010409	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	99	smart00736	4506911,NP_000014
6442	13431858	Disease	p.Gly91Arg	VAR_010410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010410	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	99	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Gly91Arg	VAR_010410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010410	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	101	smart00736	4506911,NP_000014
6442	13431858	Disease	p.Ala93Val	VAR_010411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010411	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	101	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Ala93Val	VAR_010411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010411	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	105	smart00736	4506911,NP_000014
6442	13431858	Disease	p.Asp97Gly	VAR_010412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010412	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	105	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Asp97Gly	VAR_010412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010412	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	115	smart00736	4506911,NP_000014
6442	13431858	Disease	p.Arg98Cys	VAR_010413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010413	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	106	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Arg98Cys	VAR_010413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010413	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	120	smart00736	4506911,NP_000014
6442	13431858	Disease	p.Arg98His	VAR_010388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010388	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	106	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Arg98His	VAR_010388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010388	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	120	smart00736	4506911,NP_000014
6442	13431858	Disease	p.Ile103Thr	VAR_010414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010414	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	112	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Ile103Thr	VAR_010414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010414	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	130	smart00736	4506911,NP_000014
6442	13431858	Disease	p.Ile124Thr	VAR_010415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010415	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	133	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Ile124Thr	VAR_010415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010415	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	166	smart00736	4506911,NP_000014
6442	13431858	Disease	p.Glu137Gly	VAR_037966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037966	rs28933694 Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	148	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Glu137Lys	VAR_010416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010416	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	148	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Leu158Phe	VAR_010417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010417	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	171	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Leu173Pro	VAR_010431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010431	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	189	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Val175Ala	VAR_010389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010389	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	191	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Val196Ile	VAR_010418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010418	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	214	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Pro205His	VAR_010419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010419	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	223	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Pro228Gln	VAR_010432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010432	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	252	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Val242Ala	VAR_010420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010420	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	266	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Val247Met	VAR_010433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010433	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	271	pfam05510	4506911,NP_000014
6442	13431858	Disease	p.Arg284Cys	VAR_010390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010390	- Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]	SWISS	321	pfam05510	4506911,NP_000014
6443	13431857	Disease	p.Arg91Cys	VAR_010422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010422	- Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286]	SWISS	40	pfam04790	4506913,NP_000223
6443	13431857	Disease	p.Arg91Leu	VAR_010391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010391	- Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286]	SWISS	40	pfam04790	4506913,NP_000223
6443	13431857	Disease	p.Arg91Pro	VAR_010392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010392	rs28936384 Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286]	SWISS	40	pfam04790	4506913,NP_000223
6443	13431857	Disease	p.Met100Lys	VAR_010393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010393	rs28936386 Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286]	SWISS	49	pfam04790	4506913,NP_000223
6443	13431857	Disease	p.Leu108Arg	VAR_010394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010394	- Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286]	SWISS	58	pfam04790	4506913,NP_000223
6443	13431857	Disease	p.Ile119Phe	VAR_010424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010424	- Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286]	SWISS	69	pfam04790	4506913,NP_000223
6443	13431857	Disease	p.Thr151Arg	VAR_010395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010395	rs28936383 Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286]	SWISS	117	pfam04790	4506913,NP_000223
6443	13431857	Disease	p.Gly167Ser	VAR_010426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010426	- Limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286]	SWISS	136	pfam04790	4506913,NP_000223
6444	212276471	Disease	p.Ser150Ala	VAR_013181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013181	- Cardiomyopathy dilated type 1L (CMD1L) [MIM:606685]	SWISS	150	pfam04790	189571662,NP_001121681
6444	212276471	Disease	p.Glu261Lys	VAR_010396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010396	- Limb-girdle muscular dystrophy type 2F (LGMD2F) [MIM:601287]	SWISS	286	pfam04790	189571662,NP_001121681
8910	251757514	Disease	p.Leu196Arg	VAR_026750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026750	- Dystonia type 11 (DYT11) [MIM:159900]	SWISS	186	pfam05510	10835047,NP_003910
6445	13431856	Disease	p.Gly69Asp	VAR_010430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010430	- Limb-girdle muscular dystrophy type 2C (LGMD2C) [MIM:253700]	SWISS	No Domain	N/A	4557847,NP_000222
6445	13431856	Disease	p.Gly69Arg	VAR_012202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012202	- Limb-girdle muscular dystrophy type 2C (LGMD2C) [MIM:253700]	SWISS	No Domain	N/A	4557847,NP_000222
6445	13431856	Disease	p.Cys283Tyr	VAR_010398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010398	- Limb-girdle muscular dystrophy type 2C (LGMD2C) [MIM:253700]	SWISS	No Domain	N/A	4557847,NP_000222
6448	1711493	Disease	p.Asp32Glu	VAR_054670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054670	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	7_G	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Asp32Glu	VAR_054670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054670	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	10	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Asp32Glu	VAR_054670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054670	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	28	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Asp32Gly	VAR_054671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054671	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	7_G	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Asp32Gly	VAR_054671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054671	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	10	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Asp32Gly	VAR_054671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054671	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	28	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Tyr40Asn	VAR_007388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007388	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	14	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Tyr40Asn	VAR_007388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007388	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	23	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Tyr40Asn	VAR_007388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007388	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	36	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Asn42Lys	VAR_054672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054672	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	16	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Asn42Lys	VAR_054672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054672	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	25	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Asn42Lys	VAR_054672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054672	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	38	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Ala44Thr	VAR_007389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007389	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	25	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Ala44Thr	VAR_007389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007389	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	27	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Ala44Thr	VAR_007389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007389	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	40	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Ser66Trp	VAR_007390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007390	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	57	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Ser66Trp	VAR_007390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007390	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	84	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Ser66Trp	VAR_007390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007390	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	89	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Arg74Cys	VAR_007391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007391	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	66	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Arg74Cys	VAR_007391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007391	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	92	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Arg74Cys	VAR_007391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007391	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	97	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Arg74His	VAR_007392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007392	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	66	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Arg74His	VAR_007392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007392	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	92	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Arg74His	VAR_007392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007392	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	97	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Thr79Pro	VAR_007393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007393	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	71	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Thr79Pro	VAR_007393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007393	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	97	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Thr79Pro	VAR_007393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007393	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	102	COG3119	4506919,NP_000190
6448	1711493	Disease	p.His84Tyr	VAR_054673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054673	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	76	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.His84Tyr	VAR_054673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054673	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	102	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.His84Tyr	VAR_054673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054673	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	107	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Gln85Arg	VAR_007395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007395	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	77	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Gln85Arg	VAR_007395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007395	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	103	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Gln85Arg	VAR_007395	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007395	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	108	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Met88Thr	VAR_054674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054674	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	80	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Met88Thr	VAR_054674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054674	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	106	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Met88Thr	VAR_054674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054674	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	111	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Gly90Arg	VAR_007396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007396	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	82	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Gly90Arg	VAR_007396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007396	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	108	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Gly90Arg	VAR_007396	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007396	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	113	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Ser106Arg	VAR_054675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054675	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	151	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Ser106Arg	VAR_054675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054675	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	133	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Ser106Arg	VAR_054675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054675	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	141	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Gly122Arg	VAR_007397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007397	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	192	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Gly122Arg	VAR_007397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007397	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	150	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Gly122Arg	VAR_007397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007397	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	157	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Pro128Leu	VAR_007398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007398	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	198	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Pro128Leu	VAR_007398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007398	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	156	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Pro128Leu	VAR_007398	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007398	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	178	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Val131Met	VAR_007399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007399	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	201	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Val131Met	VAR_007399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007399	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	189	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Val131Met	VAR_007399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007399	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	181	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Thr139Met	VAR_007400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007400	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	231	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Thr139Met	VAR_007400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007400	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	198	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Thr139Met	VAR_007400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007400	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	203	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Leu146Pro	VAR_007401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007401	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	240	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Leu146Pro	VAR_007401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007401	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	205	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Leu146Pro	VAR_007401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007401	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	210	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Arg150Gln	VAR_007402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007402	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	295	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Arg150Gln	VAR_007402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007402	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	296	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Arg150Gln	VAR_007402	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007402	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	214	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Arg150Trp	VAR_054676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054676	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	295	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Arg150Trp	VAR_054676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054676	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	296	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Arg150Trp	VAR_054676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054676	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	214	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Leu163Pro	VAR_054677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054677	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	308	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Leu163Pro	VAR_054677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054677	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	309	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Leu163Pro	VAR_054677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054677	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	227	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Asp179Asn	VAR_007403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007403	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	338	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Asp179Asn	VAR_007403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007403	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	330	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Asp179Asn	VAR_007403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007403	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	247	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Arg182Cys	VAR_007404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007404	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	341	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Arg182Cys	VAR_007404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007404	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	333	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Arg182Cys	VAR_007404	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007404	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	250	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Gly191Arg	VAR_054678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054678	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	352_G	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Gly191Arg	VAR_054678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054678	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	357	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Gly191Arg	VAR_054678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054678	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	267	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Phe193Leu	VAR_007405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007405	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	353	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Phe193Leu	VAR_007405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007405	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	359	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Phe193Leu	VAR_007405	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007405	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	269	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Arg206Pro	VAR_007406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007406	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	357_G	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Arg206Pro	VAR_007406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007406	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	372	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Arg206Pro	VAR_007406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007406	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	282	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Pro227Arg	VAR_007408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007408	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	371	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Pro227Arg	VAR_007408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007408	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	432	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Pro227Arg	VAR_007408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007408	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	313	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Ala234Gly	VAR_007409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007409	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	389	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Ala234Gly	VAR_007409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007409	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	439	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Ala234Gly	VAR_007409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007409	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	320	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Asp235Asn	VAR_054679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054679	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	390	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Asp235Asn	VAR_054679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054679	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	440	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Asp235Asn	VAR_054679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054679	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	321	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Asp235Val	VAR_007410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007410	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	390	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Asp235Val	VAR_007410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007410	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	440	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Asp235Val	VAR_007410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007410	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	321	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Arg245His	VAR_007411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007411	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	400	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Arg245His	VAR_007411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007411	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	450	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Arg245His	VAR_007411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007411	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	372	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Gly251Ala	VAR_054680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054680	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	406	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Gly251Ala	VAR_054680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054680	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	456	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Gly251Ala	VAR_054680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054680	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	378	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Asp273Asn	VAR_054681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054681	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	438	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Asp273Asn	VAR_054681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054681	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	479	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Asp273Asn	VAR_054681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054681	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	404	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Pro288Ser	VAR_054682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054682	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	530	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Pro288Ser	VAR_054682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054682	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	553	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Pro288Ser	VAR_054682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054682	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	478	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Pro293Ser	VAR_054683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054683	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	535	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Pro293Ser	VAR_054683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054683	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	558	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Pro293Ser	VAR_054683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054683	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	483	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Pro293Thr	VAR_054684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054684	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	535	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Pro293Thr	VAR_054684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054684	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	558	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Pro293Thr	VAR_054684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054684	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	483	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Ser298Pro	VAR_007412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007412	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	540	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Ser298Pro	VAR_007412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007412	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	563	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Ser298Pro	VAR_007412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007412	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	490	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Glu300Val	VAR_054685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054685	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	542	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Glu300Val	VAR_054685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054685	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	565	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Glu300Val	VAR_054685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054685	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	492	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Gln307Pro	VAR_054687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054687	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	574	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Gln307Pro	VAR_054687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054687	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	581	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Gln307Pro	VAR_054687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054687	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	499	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Thr321Ala	VAR_007413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007413	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	598	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Thr321Ala	VAR_007413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007413	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	599	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Thr321Ala	VAR_007413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007413	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	513	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Ile322Ser	VAR_054688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054688	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	599	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Ile322Ser	VAR_054688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054688	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	600	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Ile322Ser	VAR_054688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054688	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	514	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Ala354Pro	VAR_007414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007414	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	658	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Ala354Pro	VAR_007414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007414	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	650	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Ala354Pro	VAR_007414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007414	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	554	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Glu355Lys	VAR_054689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054689	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	659	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Glu355Lys	VAR_054689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054689	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	651	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Glu355Lys	VAR_054689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054689	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	560	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Ser364Arg	VAR_007416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007416	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	668	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Ser364Arg	VAR_007416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007416	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	705	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Ser364Arg	VAR_007416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007416	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	569	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Glu369Lys	VAR_007417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007417	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	683	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Glu369Lys	VAR_007417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007417	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	710	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Glu369Lys	VAR_007417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007417	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	573_G	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Tyr374His	VAR_054690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054690	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	688	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Tyr374His	VAR_054690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054690	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	715	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Tyr374His	VAR_054690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054690	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	574	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Arg377Cys	VAR_007418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007418	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	691	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Arg377Cys	VAR_007418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007418	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	718	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Arg377Cys	VAR_007418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007418	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	577	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Arg377His	VAR_007419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007419	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	691	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Arg377His	VAR_007419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007419	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	718	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Arg377His	VAR_007419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007419	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	577	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Gln380Arg	VAR_007420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007420	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	694	pfam01663	4506919,NP_000190
6448	1711493	Disease	p.Gln380Arg	VAR_007420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007420	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	721	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Gln380Arg	VAR_007420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007420	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	580	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Leu386Arg	VAR_007421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007421	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	727	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Leu386Arg	VAR_007421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007421	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	586	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Asn389Lys	VAR_007422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007422	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	730	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Asn389Lys	VAR_007422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007422	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	597	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Arg433Gln	VAR_054695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054695	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	794	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Arg433Gln	VAR_054695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054695	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	679	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Arg433Trp	VAR_054696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054696	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	794	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Arg433Trp	VAR_054696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054696	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	679	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Glu447Lys	VAR_007423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007423	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	808	pfam00884	4506919,NP_000190
6448	1711493	Disease	p.Glu447Lys	VAR_007423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007423	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	693	COG3119	4506919,NP_000190
6448	1711493	Disease	p.Val486Phe	VAR_054698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054698	- Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]	SWISS	No Domain	N/A	4506919,NP_000190
4068	6094278	Disease	p.Tyr7Cys	VAR_048005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048005	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	4	smart00252	4506923,NP_002342
4068	6094278	Disease	p.Tyr7Cys	VAR_048005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048005	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	3	cd00173	4506923,NP_002342
4068	6094278	Disease	p.His8Asp	VAR_048006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048006	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	5	smart00252	4506923,NP_002342
4068	6094278	Disease	p.His8Asp	VAR_048006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048006	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	3	pfam00017	4506923,NP_002342
4068	6094278	Disease	p.His8Asp	VAR_048006	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048006	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	4	cd00173	4506923,NP_002342
4068	6094278	Disease	p.Gly16Asp	VAR_048007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048007	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	22	smart00252	4506923,NP_002342
4068	6094278	Disease	p.Gly16Asp	VAR_048007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048007	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	16	pfam00017	4506923,NP_002342
4068	6094278	Disease	p.Gly16Asp	VAR_048007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048007	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	17	cd00173	4506923,NP_002342
4068	6094278	Disease	p.Gly27Ser	VAR_048008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048008	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	56	smart00252	4506923,NP_002342
4068	6094278	Disease	p.Gly27Ser	VAR_048008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048008	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	32	pfam00017	4506923,NP_002342
4068	6094278	Disease	p.Gly27Ser	VAR_048008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048008	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	39	cd00173	4506923,NP_002342
4068	6094278	Disease	p.Ser28Arg	VAR_048009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048009	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	57	smart00252	4506923,NP_002342
4068	6094278	Disease	p.Ser28Arg	VAR_048009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048009	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	33	pfam00017	4506923,NP_002342
4068	6094278	Disease	p.Ser28Arg	VAR_048009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048009	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	40	cd00173	4506923,NP_002342
4068	6094278	Disease	p.Leu31Pro	VAR_048010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048010	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	60	smart00252	4506923,NP_002342
4068	6094278	Disease	p.Leu31Pro	VAR_048010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048010	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	36	pfam00017	4506923,NP_002342
4068	6094278	Disease	p.Leu31Pro	VAR_048010	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048010	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	43	cd00173	4506923,NP_002342
4068	6094278	Disease	p.Arg32Thr	VAR_005612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005612	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	61	smart00252	4506923,NP_002342
4068	6094278	Disease	p.Arg32Thr	VAR_005612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005612	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	37	pfam00017	4506923,NP_002342
4068	6094278	Disease	p.Arg32Thr	VAR_005612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005612	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	44	cd00173	4506923,NP_002342
4068	6094278	Disease	p.Asp33Tyr	VAR_048011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048011	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	62	smart00252	4506923,NP_002342
4068	6094278	Disease	p.Asp33Tyr	VAR_048011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048011	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	38	pfam00017	4506923,NP_002342
4068	6094278	Disease	p.Asp33Tyr	VAR_048011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048011	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	45	cd00173	4506923,NP_002342
4068	6094278	Disease	p.Cys42Trp	VAR_048012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048012	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	131	smart00252	4506923,NP_002342
4068	6094278	Disease	p.Cys42Trp	VAR_048012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048012	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	51	pfam00017	4506923,NP_002342
4068	6094278	Disease	p.Cys42Trp	VAR_048012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048012	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	59	cd00173	4506923,NP_002342
4068	6094278	Disease	p.Gly49Val	VAR_048013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048013	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	206	smart00252	4506923,NP_002342
4068	6094278	Disease	p.Gly49Val	VAR_048013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048013	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	58	pfam00017	4506923,NP_002342
4068	6094278	Disease	p.Gly49Val	VAR_048013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048013	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	66	cd00173	4506923,NP_002342
4068	6094278	Disease	p.Thr53Ile	VAR_048014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048014	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	225	smart00252	4506923,NP_002342
4068	6094278	Disease	p.Thr53Ile	VAR_048014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048014	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	71	pfam00017	4506923,NP_002342
4068	6094278	Disease	p.Thr53Ile	VAR_048014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048014	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	87	cd00173	4506923,NP_002342
4068	6094278	Disease	p.Tyr54Cys	VAR_048015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048015	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	226	smart00252	4506923,NP_002342
4068	6094278	Disease	p.Tyr54Cys	VAR_048015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048015	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	72	pfam00017	4506923,NP_002342
4068	6094278	Disease	p.Tyr54Cys	VAR_048015	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048015	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	88	cd00173	4506923,NP_002342
4068	6094278	Disease	p.Arg55Leu	VAR_018307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018307	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	227	smart00252	4506923,NP_002342
4068	6094278	Disease	p.Arg55Leu	VAR_018307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018307	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	73	pfam00017	4506923,NP_002342
4068	6094278	Disease	p.Arg55Leu	VAR_018307	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018307	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	89	cd00173	4506923,NP_002342
4068	6094278	Disease	p.Thr68Ile	VAR_005613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005613	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	298	smart00252	4506923,NP_002342
4068	6094278	Disease	p.Thr68Ile	VAR_005613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005613	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	90_G	pfam00017	4506923,NP_002342
4068	6094278	Disease	p.Thr68Ile	VAR_005613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005613	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	102	cd00173	4506923,NP_002342
4068	6094278	Disease	p.Ile84Thr	VAR_048017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048017	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	336	smart00252	4506923,NP_002342
4068	6094278	Disease	p.Ile84Thr	VAR_048017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048017	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	106	pfam00017	4506923,NP_002342
4068	6094278	Disease	p.Ile84Thr	VAR_048017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048017	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	130	cd00173	4506923,NP_002342
4068	6094278	Disease	p.Phe87Ser	VAR_048018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048018	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	339	smart00252	4506923,NP_002342
4068	6094278	Disease	p.Phe87Ser	VAR_048018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048018	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	133	cd00173	4506923,NP_002342
4068	6094278	Disease	p.Gln99Pro	VAR_048019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048019	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	157	cd00173	4506923,NP_002342
4068	6094278	Disease	p.Pro101Leu	VAR_005614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005614	rs28935184 Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	159	cd00173	4506923,NP_002342
4068	6094278	Disease	p.Val102Gly	VAR_048020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048020	- Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]	SWISS	No Domain	N/A	4506923,NP_002342
6452	3023207	Disease	p.Arg415Pro	VAR_013257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013257	- Cherubism (CRBM) [MIM:118400]	SWISS	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
6452	3023207	Disease	p.Arg415Gln	VAR_013258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013258	- Cherubism (CRBM) [MIM:118400]	SWISS	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
6452	3023207	Disease	p.Pro418His	VAR_013259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013259	- Cherubism (CRBM) [MIM:118400]	SWISS	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
6452	3023207	Disease	p.Pro418Leu	VAR_013260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013260	- Cherubism (CRBM) [MIM:118400]	SWISS	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
6452	3023207	Disease	p.Pro418Arg	VAR_013261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013261	- Cherubism (CRBM) [MIM:118400]	SWISS	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
6452	3023207	Disease	p.Gly420Glu	VAR_013262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013262	rs28938171 Cherubism (CRBM) [MIM:118400]	SWISS	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
6452	3023207	Disease	p.Gly420Arg	VAR_013263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013263	rs28938170 Cherubism (CRBM) [MIM:118400]	SWISS	No Domain	N/A	170014705,NP_001116153|170014703,NP_003014
285590	229463023	Disease	p.Arg43Trp	VAR_063764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063764	- Frank-Ter Haar syndrome (FTHS) [MIM:249420]	SWISS	37	cd06887	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	VAR_063764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063764	- Frank-Ter Haar syndrome (FTHS) [MIM:249420]	SWISS	52	cd06888	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	VAR_063764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063764	- Frank-Ter Haar syndrome (FTHS) [MIM:249420]	SWISS	38	cd06884	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	VAR_063764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063764	- Frank-Ter Haar syndrome (FTHS) [MIM:249420]	SWISS	41	cd06889	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	VAR_063764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063764	- Frank-Ter Haar syndrome (FTHS) [MIM:249420]	SWISS	71	cd06093	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	VAR_063764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063764	- Frank-Ter Haar syndrome (FTHS) [MIM:249420]	SWISS	38	cd06883	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	VAR_063764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063764	- Frank-Ter Haar syndrome (FTHS) [MIM:249420]	SWISS	36	cd07289	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	VAR_063764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063764	- Frank-Ter Haar syndrome (FTHS) [MIM:249420]	SWISS	96	smart00312	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	VAR_063764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063764	- Frank-Ter Haar syndrome (FTHS) [MIM:249420]	SWISS	40	cd06882	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	VAR_063764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063764	- Frank-Ter Haar syndrome (FTHS) [MIM:249420]	SWISS	51	cd06890	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	VAR_063764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063764	- Frank-Ter Haar syndrome (FTHS) [MIM:249420]	SWISS	52	cd06897	63055059,NP_001017995
285590	229463023	Disease	p.Arg43Trp	VAR_063764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063764	- Frank-Ter Haar syndrome (FTHS) [MIM:249420]	SWISS	58	pfam00787	63055059,NP_001017995
79628	46396469	Disease	p.Arg529Gln	VAR_018268	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018268	- Charcot-Marie-Tooth disease type 4C (CMT4C) [MIM:601596]	SWISS	No Domain	N/A	38488692,NP_078853
79628	46396469	Disease	p.Glu657Lys	VAR_018269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018269	- Charcot-Marie-Tooth disease type 4C (CMT4C) [MIM:601596]	SWISS	No Domain	N/A	38488692,NP_078853
79628	46396469	Disease	p.Arg658Cys	VAR_018270	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018270	- Charcot-Marie-Tooth disease type 4C (CMT4C) [MIM:601596]	SWISS	No Domain	N/A	38488692,NP_078853
6469	6094283	Disease	p.Arg6Thr	VAR_023804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023804	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	No Domain	N/A	4506939,NP_000184
6469	6094283	Disease	p.Leu17Pro	VAR_062592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062592	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	No Domain	N/A	4506939,NP_000184
6469	6094283	Disease	p.Pro26Leu	VAR_062593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062593	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	No Domain	N/A	4506939,NP_000184
6469	6094283	Disease	p.Gly27Ala	VAR_039888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039888	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	No Domain	N/A	4506939,NP_000184
6469	6094283	Disease	p.Gly31Arg	VAR_003619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003619	rs28936675 Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	No Domain	N/A	4506939,NP_000184
6469	6094283	Disease	p.Leu39Pro	VAR_062594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062594	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	No Domain	N/A	4506939,NP_000184
6469	6094283	Disease	p.Glu53Lys	VAR_062595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062595	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	15	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Asp83Val	VAR_062596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062596	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	45	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Ile84Phe	VAR_062597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062597	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	46	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Asp88Val	VAR_009163	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009163	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	50	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Gln100His	VAR_009164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009164	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	62	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Cys102Arg	VAR_062598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062598	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	64	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Cys102Tyr	VAR_062599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062599	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	64	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Leu109Phe	VAR_062600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062600	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	71	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Ala110Asp	VAR_023806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023806	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	72	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Ala110Thr	VAR_062601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062601	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	72	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Ile111Phe	VAR_017883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017883	- Solitary median maxillary central incisor (SMMCI) [MIM:147250]	SWISS	73	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Ile111Asn	VAR_039889	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039889	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	73	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Asn115Lys	VAR_009165	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009165	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	77	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Trp117Gly	VAR_003620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003620	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	79	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Trp117Arg	VAR_003621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003621	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	79	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Val124Met	VAR_062602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062602	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	86	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Glu136Lys	VAR_062603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062603	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	98	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.His140Pro	VAR_039890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039890	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	102	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.His140Gln	VAR_039891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039891	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	102	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Gly143Asp	VAR_062604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062604	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	105	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Arg144Pro	VAR_062605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062605	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	106	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Asp147Asn	VAR_062606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062606	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	109	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Thr150Lys	VAR_062607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062607	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	112	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Thr150Arg	VAR_023807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023807	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	112	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Ser156Arg	VAR_062608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062608	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	118	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Phe170Cys	VAR_062609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062609	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	132	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Asp171His	VAR_062610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062610	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	133	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Cys183Phe	VAR_039892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039892	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	145	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Cys183Arg	VAR_062611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062611	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	145	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Cys183Tyr	VAR_062612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062612	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	145	pfam01085	4506939,NP_000184
6469	6094283	Disease	p.Ser184Leu	VAR_062613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062613	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	No Domain	N/A	4506939,NP_000184
6469	6094283	Disease	p.Glu188Gln	VAR_009166	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009166	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	2	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Gly196Glu	VAR_062615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062615	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	19	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Gly197Val	VAR_062616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062616	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	20	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Cys198Phe	VAR_062617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062617	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	2	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Cys198Phe	VAR_062617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062617	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	21	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Cys198Ser	VAR_062618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062618	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	2	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Cys198Ser	VAR_062618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062618	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	21	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Leu218Pro	VAR_062619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062619	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	63	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Leu218Pro	VAR_062619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062619	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	24	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Leu218Pro	VAR_062619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062619	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	41	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Asp222Asn	VAR_009167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009167	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	164	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Asp222Asn	VAR_009167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009167	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	69	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Asp222Asn	VAR_009167	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009167	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	45	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Val224Glu	VAR_009168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009168	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	171	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Val224Glu	VAR_009168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009168	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	71	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Val224Glu	VAR_009168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009168	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	47	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Ala226Thr	VAR_009169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009169	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	173	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Ala226Thr	VAR_009169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009169	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	73	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Ala226Thr	VAR_009169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009169	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	49	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Gly231Val	VAR_062620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062620	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	188	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Gly231Val	VAR_062620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062620	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	85	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Gly231Val	VAR_062620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062620	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	61	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Arg232Gly	VAR_062621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062621	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	196	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Arg232Gly	VAR_062621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062621	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	86	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Arg232Gly	VAR_062621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062621	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	63	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Leu234Pro	VAR_062622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062622	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	198	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Leu234Pro	VAR_062622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062622	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	88	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Leu234Pro	VAR_062622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062622	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	65	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Ser236Asn	VAR_062623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062623	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	201	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Ser236Asn	VAR_062623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062623	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	90	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Ser236Asn	VAR_062623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062623	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	67	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Ser236Arg	VAR_009170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009170	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	201	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Ser236Arg	VAR_009170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009170	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	90	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Ser236Arg	VAR_009170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009170	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	67	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Phe241Leu	VAR_062624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062624	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	222	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Phe241Leu	VAR_062624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062624	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	95	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Phe241Leu	VAR_062624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062624	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	72	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Phe241Val	VAR_062625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062625	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	222	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Phe241Val	VAR_062625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062625	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	95	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Phe241Val	VAR_062625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062625	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	72	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Ile255Asn	VAR_062626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062626	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	237	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Ile255Asn	VAR_062626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062626	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	113	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Ile255Asn	VAR_062626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062626	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	92	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Thr267Ile	VAR_039893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039893	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	298	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Thr267Ile	VAR_039893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039893	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	145	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Thr267Ile	VAR_039893	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039893	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	106	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Leu271Pro	VAR_023809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023809	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	302	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Leu271Pro	VAR_023809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023809	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	149	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Leu271Pro	VAR_023809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023809	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	110	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Ala275Glu	VAR_062627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062627	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	336	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Ala275Glu	VAR_062627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062627	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	153	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Ala275Glu	VAR_062627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062627	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	114	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Ser280Trp	VAR_062628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062628	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	346	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Ser280Trp	VAR_062628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062628	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	158	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Ser280Trp	VAR_062628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062628	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	133	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Gly290Asp	VAR_009172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009172	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	356	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Gly290Asp	VAR_009172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009172	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	214	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Gly290Asp	VAR_009172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009172	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	148	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Gly296Ala	VAR_062629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062629	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	367	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Gly296Ala	VAR_062629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062629	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	220	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Gly296Ala	VAR_062629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062629	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	163	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Arg310Cys	VAR_062630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062630	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	381	smart00306	4506939,NP_000184
6469	6094283	Disease	p.Arg310Cys	VAR_062630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062630	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	242	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Arg310Cys	VAR_062630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062630	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	177	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Arg321Ser	VAR_062631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062631	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	253	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Arg321Ser	VAR_062631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062631	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	193	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Val332Ala	VAR_023810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023810	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	11	smart00305	4506939,NP_000184
6469	6094283	Disease	p.Val332Ala	VAR_023810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023810	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	660	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Val332Ala	VAR_023810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023810	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	205	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Val332Ala	VAR_023810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023810	- Solitary median maxillary central incisor (SMMCI) [MIM:147250]	SWISS	11	smart00305	4506939,NP_000184
6469	6094283	Disease	p.Val332Ala	VAR_023810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023810	- Solitary median maxillary central incisor (SMMCI) [MIM:147250]	SWISS	660	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Val332Ala	VAR_023810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023810	- Solitary median maxillary central incisor (SMMCI) [MIM:147250]	SWISS	205	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Ala346Val	VAR_062632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062632	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	36	smart00305	4506939,NP_000184
6469	6094283	Disease	p.Ala346Val	VAR_062632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062632	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	680	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Ala346Val	VAR_062632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062632	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	219	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Pro347Leu	VAR_062633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062633	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	37	smart00305	4506939,NP_000184
6469	6094283	Disease	p.Pro347Leu	VAR_062633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062633	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	681	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Pro347Leu	VAR_062633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062633	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	220	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Pro347Gln	VAR_023811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023811	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	37	smart00305	4506939,NP_000184
6469	6094283	Disease	p.Pro347Gln	VAR_023811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023811	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	681	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Pro347Gln	VAR_023811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023811	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	220	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Pro347Arg	VAR_062634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062634	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	37	smart00305	4506939,NP_000184
6469	6094283	Disease	p.Pro347Arg	VAR_062634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062634	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	681	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Pro347Arg	VAR_062634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062634	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	220	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Ile354Thr	VAR_023812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023812	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	51	smart00305	4506939,NP_000184
6469	6094283	Disease	p.Ile354Thr	VAR_023812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023812	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	696	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Ile354Thr	VAR_023812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023812	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	227	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Ser362Leu	VAR_062635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062635	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	63	smart00305	4506939,NP_000184
6469	6094283	Disease	p.Ser362Leu	VAR_062635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062635	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	711	cd00081	4506939,NP_000184
6469	6094283	Disease	p.Ser362Leu	VAR_062635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062635	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	235	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Cys363Tyr	VAR_062636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062636	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	64	smart00305	4506939,NP_000184
6469	6094283	Disease	p.Cys363Tyr	VAR_062636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062636	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	236	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Tyr364Cys	VAR_062637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062637	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	65	smart00305	4506939,NP_000184
6469	6094283	Disease	p.Tyr364Cys	VAR_062637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062637	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	237	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Ala373Thr	VAR_039894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039894	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	246	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.His374Arg	VAR_062638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062638	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	247	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Ala376Asp	VAR_062639	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062639	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	249	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Phe377Ser	VAR_062640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062640	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	250	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Arg381Pro	VAR_023813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023813	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	256	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Leu382Pro	VAR_062641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062641	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	257	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Ala383Thr	VAR_009174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009174	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	258	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Ala391Thr	VAR_062642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062642	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	291	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Thr416Ala	VAR_062646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062646	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	318	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Pro424Ala	VAR_009176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009176	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	326	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Tyr435Asn	VAR_062647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062647	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	344	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Ser436Leu	VAR_009177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009177	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	345	pfam01079	4506939,NP_000184
6469	6094283	Disease	p.Gly456Arg	VAR_062648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062648	- Holoprosencephaly type 3 (HPE3) [MIM:142945]	SWISS	No Domain	N/A	4506939,NP_000184
8036	14423936	Disease	p.Ser2Gly	VAR_060199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060199	- Noonan-like syndrome with loose anagen hair (NSLAH) [MIM:607721]	SWISS	No Domain	N/A	41281398,NP_031399
6473	6831676	Disease	p.Leu132Val	VAR_019414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019414	- Leri-Weill dyschondrosteosis (LWD) [MIM:127300]	SWISS	66	COG5576	4506943,NP_000442
6473	6831676	Disease	p.Leu132Val	VAR_019414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019414	- Leri-Weill dyschondrosteosis (LWD) [MIM:127300]	SWISS	20	smart00389	4506943,NP_000442
6473	6831676	Disease	p.Leu132Val	VAR_019414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019414	- Leri-Weill dyschondrosteosis (LWD) [MIM:127300]	SWISS	15	pfam00046	4506943,NP_000442
6473	6831676	Disease	p.Leu132Val	VAR_019414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019414	- Leri-Weill dyschondrosteosis (LWD) [MIM:127300]	SWISS	15	cd00086	4506943,NP_000442
6473	6831676	Disease	p.Arg153Leu	VAR_019415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019415	- Leri-Weill dyschondrosteosis (LWD) [MIM:127300]	SWISS	87	COG5576	4506943,NP_000442
6473	6831676	Disease	p.Arg153Leu	VAR_019415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019415	- Leri-Weill dyschondrosteosis (LWD) [MIM:127300]	SWISS	55	smart00389	4506943,NP_000442
6473	6831676	Disease	p.Arg153Leu	VAR_019415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019415	- Leri-Weill dyschondrosteosis (LWD) [MIM:127300]	SWISS	41	pfam00046	4506943,NP_000442
6473	6831676	Disease	p.Arg153Leu	VAR_019415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019415	- Leri-Weill dyschondrosteosis (LWD) [MIM:127300]	SWISS	47	cd00086	4506943,NP_000442
6473	6831676	Disease	p.Arg168Trp	VAR_019416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019416	- Langer mesomelic dysplasia (LMD) [MIM:249700]	SWISS	104	COG5576	4506943,NP_000442
6473	6831676	Disease	p.Arg168Trp	VAR_019416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019416	- Langer mesomelic dysplasia (LMD) [MIM:249700]	SWISS	91	smart00389	4506943,NP_000442
6473	6831676	Disease	p.Arg168Trp	VAR_019416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019416	- Langer mesomelic dysplasia (LMD) [MIM:249700]	SWISS	61	pfam00046	4506943,NP_000442
6473	6831676	Disease	p.Arg168Trp	VAR_019416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019416	- Langer mesomelic dysplasia (LMD) [MIM:249700]	SWISS	83	cd00086	4506943,NP_000442
6473	6831676	Disease	p.Arg173Cys	VAR_012346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012346	- Leri-Weill dyschondrosteosis (LWD) [MIM:127300]	SWISS	109	COG5576	4506943,NP_000442
6473	6831676	Disease	p.Arg173Cys	VAR_012346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012346	- Leri-Weill dyschondrosteosis (LWD) [MIM:127300]	SWISS	66	pfam00046	4506943,NP_000442
6473	6831676	Disease	p.Arg173Cys	VAR_012346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012346	- Leri-Weill dyschondrosteosis (LWD) [MIM:127300]	SWISS	88	cd00086	4506943,NP_000442
57477	147733019	Disease	p.Ser1089Leu	VAR_032258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032258	- Mental retardation syndromic X-linked Stocco dos Santos type (MRXSSS) [MIM:300434]	SWISS	No Domain	N/A	NULL
6476	229463051	Disease	p.Gln117Arg	VAR_025368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025368	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	22	COG1501	NULL
6476	229463051	Disease	p.Leu341Pro	VAR_025370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025370	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	3	cd06592	NULL
6476	229463051	Disease	p.Leu341Pro	VAR_025370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025370	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	41	pfam01055	NULL
6476	229463051	Disease	p.Leu341Pro	VAR_025370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025370	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	509	COG1501	NULL
6476	229463051	Disease	p.Val577Gly	VAR_025371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025371	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	186	cd06596	NULL
6476	229463051	Disease	p.Val577Gly	VAR_025371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025371	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	285_G	cd06592	NULL
6476	229463051	Disease	p.Val577Gly	VAR_025371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025371	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	619	pfam01055	NULL
6476	229463051	Disease	p.Val577Gly	VAR_025371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025371	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	852	COG1501	NULL
6476	229463051	Disease	p.Val577Gly	VAR_025371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025371	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	581	cd06602	NULL
6476	229463051	Disease	p.Val577Gly	VAR_025371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025371	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	320	cd06601	NULL
6476	229463051	Disease	p.Val577Gly	VAR_025371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025371	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	233	cd06598	NULL
6476	229463051	Disease	p.Val577Gly	VAR_025371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025371	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	294	cd06599	NULL
6476	229463051	Disease	p.Val577Gly	VAR_025371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025371	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	258	cd06604	NULL
6476	229463051	Disease	p.Val577Gly	VAR_025371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025371	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	294	cd06603	NULL
6476	229463051	Disease	p.Val577Gly	VAR_025371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025371	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	236	cd06600	NULL
6476	229463051	Disease	p.Val577Gly	VAR_025371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025371	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	235	cd06594	NULL
6476	229463051	Disease	p.Val577Gly	VAR_025371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025371	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	284	cd06593	NULL
6476	229463051	Disease	p.Val577Gly	VAR_025371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025371	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	240_G	cd06597	NULL
6476	229463051	Disease	p.Val577Gly	VAR_025371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025371	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	326	cd06589	NULL
6476	229463051	Disease	p.Val577Gly	VAR_025371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025371	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	229	cd06591	NULL
6476	229463051	Disease	p.Ser594Pro	VAR_025372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025372	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	208	cd06596	NULL
6476	229463051	Disease	p.Ser594Pro	VAR_025372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025372	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	293_G	cd06592	NULL
6476	229463051	Disease	p.Ser594Pro	VAR_025372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025372	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	643	pfam01055	NULL
6476	229463051	Disease	p.Ser594Pro	VAR_025372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025372	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	871	COG1501	NULL
6476	229463051	Disease	p.Ser594Pro	VAR_025372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025372	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	623	cd06602	NULL
6476	229463051	Disease	p.Ser594Pro	VAR_025372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025372	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	346	cd06601	NULL
6476	229463051	Disease	p.Ser594Pro	VAR_025372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025372	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	250	cd06598	NULL
6476	229463051	Disease	p.Ser594Pro	VAR_025372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025372	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	311	cd06599	NULL
6476	229463051	Disease	p.Ser594Pro	VAR_025372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025372	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	275	cd06604	NULL
6476	229463051	Disease	p.Ser594Pro	VAR_025372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025372	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	383	cd06603	NULL
6476	229463051	Disease	p.Ser594Pro	VAR_025372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025372	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	254	cd06600	NULL
6476	229463051	Disease	p.Ser594Pro	VAR_025372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025372	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	267	cd06594	NULL
6476	229463051	Disease	p.Ser594Pro	VAR_025372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025372	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	301	cd06593	NULL
6476	229463051	Disease	p.Ser594Pro	VAR_025372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025372	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	250	cd06597	NULL
6476	229463051	Disease	p.Ser594Pro	VAR_025372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025372	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	348	cd06589	NULL
6476	229463051	Disease	p.Ser594Pro	VAR_025372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025372	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	251	cd06591	NULL
6476	229463051	Disease	p.Leu620Pro	VAR_025373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025373	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	235	cd06596	NULL
6476	229463051	Disease	p.Leu620Pro	VAR_025373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025373	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	315	cd06592	NULL
6476	229463051	Disease	p.Leu620Pro	VAR_025373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025373	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	690	pfam01055	NULL
6476	229463051	Disease	p.Leu620Pro	VAR_025373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025373	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	907	COG1501	NULL
6476	229463051	Disease	p.Leu620Pro	VAR_025373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025373	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	649	cd06602	NULL
6476	229463051	Disease	p.Leu620Pro	VAR_025373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025373	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	372	cd06601	NULL
6476	229463051	Disease	p.Leu620Pro	VAR_025373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025373	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	277	cd06598	NULL
6476	229463051	Disease	p.Leu620Pro	VAR_025373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025373	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	338	cd06599	NULL
6476	229463051	Disease	p.Leu620Pro	VAR_025373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025373	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	301	cd06604	NULL
6476	229463051	Disease	p.Leu620Pro	VAR_025373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025373	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	409	cd06603	NULL
6476	229463051	Disease	p.Leu620Pro	VAR_025373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025373	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	280	cd06600	NULL
6476	229463051	Disease	p.Leu620Pro	VAR_025373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025373	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	297	cd06594	NULL
6476	229463051	Disease	p.Leu620Pro	VAR_025373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025373	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	327	cd06593	NULL
6476	229463051	Disease	p.Leu620Pro	VAR_025373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025373	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	276	cd06597	NULL
6476	229463051	Disease	p.Leu620Pro	VAR_025373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025373	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	379	cd06589	NULL
6476	229463051	Disease	p.Leu620Pro	VAR_025373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025373	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	278	cd06591	NULL
6476	229463051	Disease	p.Thr694Pro	VAR_025374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025374	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	308	cd06596	NULL
6476	229463051	Disease	p.Thr694Pro	VAR_025374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025374	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	812	pfam01055	NULL
6476	229463051	Disease	p.Thr694Pro	VAR_025374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025374	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	1014	COG1501	NULL
6476	229463051	Disease	p.Thr694Pro	VAR_025374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025374	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	737	cd06602	NULL
6476	229463051	Disease	p.Thr694Pro	VAR_025374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025374	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	384	cd06604	NULL
6476	229463051	Disease	p.Thr694Pro	VAR_025374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025374	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	486	cd06603	NULL
6476	229463051	Disease	p.Thr694Pro	VAR_025374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025374	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	360	cd06600	NULL
6476	229463051	Disease	p.Thr694Pro	VAR_025374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025374	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	406	cd06593	NULL
6476	229463051	Disease	p.Gly1073Asp	VAR_025375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025375	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	152	COG1501	NULL
6476	229463051	Disease	p.Gln1098Pro	VAR_007854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007854	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	178	COG1501	NULL
6476	229463051	Disease	p.Cys1229Tyr	VAR_025376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025376	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	16	cd06604	NULL
6476	229463051	Disease	p.Cys1229Tyr	VAR_025376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025376	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	16	cd06603	NULL
6476	229463051	Disease	p.Cys1229Tyr	VAR_025376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025376	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	16	cd06600	NULL
6476	229463051	Disease	p.Cys1229Tyr	VAR_025376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025376	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	22	cd06589	NULL
6476	229463051	Disease	p.Cys1229Tyr	VAR_025376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025376	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	16	cd06602	NULL
6476	229463051	Disease	p.Cys1229Tyr	VAR_025376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025376	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	530	COG1501	NULL
6476	229463051	Disease	p.Cys1229Tyr	VAR_025376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025376	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	72	pfam01055	NULL
6476	229463051	Disease	p.Arg1367Gly	VAR_025377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025377	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	136	cd06604	NULL
6476	229463051	Disease	p.Arg1367Gly	VAR_025377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025377	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	204	cd06603	NULL
6476	229463051	Disease	p.Arg1367Gly	VAR_025377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025377	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	136	cd06600	NULL
6476	229463051	Disease	p.Arg1367Gly	VAR_025377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025377	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	218	cd06589	NULL
6476	229463051	Disease	p.Arg1367Gly	VAR_025377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025377	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	297	cd06602	NULL
6476	229463051	Disease	p.Arg1367Gly	VAR_025377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025377	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	681	COG1501	NULL
6476	229463051	Disease	p.Arg1367Gly	VAR_025377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025377	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	388	pfam01055	NULL
6476	229463051	Disease	p.Phe1745Cys	VAR_025379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025379	- Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900]	SWISS	1198	COG1501	NULL
6495	2495290	Disease	p.Arg110Trp	VAR_031024	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031024	- Branchiootic syndrome type 3 (BOS3) [MIM:608389]	SWISS	No Domain	N/A	5174681,NP_005973
6495	2495290	Disease	p.Tyr129Cys	VAR_031025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031025	- Branchiootic syndrome type 3 (BOS3) [MIM:608389]	SWISS	5	cd00086	5174681,NP_005973
6495	2495290	Disease	p.Tyr129Cys	VAR_031025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031025	- Branchiootic syndrome type 3 (BOS3) [MIM:608389]	SWISS	4	smart00389	5174681,NP_005973
6495	2495290	Disease	p.Tyr129Cys	VAR_031025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031025	- Branchiootic syndrome type 3 (BOS3) [MIM:608389]	SWISS	4	pfam00046	5174681,NP_005973
6496	6094293	Disease	p.Gly69Asp	VAR_038418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038418	- Holoprosencephaly type 2 (HPE2) [MIM:157170]	SWISS	No Domain	N/A	4885597,NP_005404
6496	6094293	Disease	p.Val92Gly	VAR_023797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023797	- Holoprosencephaly type 2 (HPE2) [MIM:157170]	SWISS	No Domain	N/A	4885597,NP_005404
6496	6094293	Disease	p.Ile105Val	VAR_023798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023798	- Holoprosencephaly type 2 (HPE2) [MIM:157170]	SWISS	No Domain	N/A	4885597,NP_005404
6496	6094293	Disease	p.His173Pro	VAR_023799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023799	- Holoprosencephaly type 2 (HPE2) [MIM:157170]	SWISS	No Domain	N/A	4885597,NP_005404
6496	6094293	Disease	p.Thr202Ile	VAR_023800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023800	- Holoprosencephaly type 2 (HPE2) [MIM:157170]	SWISS	No Domain	N/A	4885597,NP_005404
6496	6094293	Disease	p.Leu226Val	VAR_003771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003771	- Holoprosencephaly type 2 (HPE2) [MIM:157170]	SWISS	20	cd00086	4885597,NP_005404
6496	6094293	Disease	p.Leu226Val	VAR_003771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003771	- Holoprosencephaly type 2 (HPE2) [MIM:157170]	SWISS	20	pfam00046	4885597,NP_005404
6496	6094293	Disease	p.Leu226Val	VAR_003771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003771	- Holoprosencephaly type 2 (HPE2) [MIM:157170]	SWISS	28	smart00389	4885597,NP_005404
6496	6094293	Disease	p.Pro231Arg	VAR_023801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023801	- Holoprosencephaly type 2 (HPE2) [MIM:157170]	SWISS	36	cd00086	4885597,NP_005404
6496	6094293	Disease	p.Pro231Arg	VAR_023801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023801	- Holoprosencephaly type 2 (HPE2) [MIM:157170]	SWISS	30	pfam00046	4885597,NP_005404
6496	6094293	Disease	p.Pro231Arg	VAR_023801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023801	- Holoprosencephaly type 2 (HPE2) [MIM:157170]	SWISS	44	smart00389	4885597,NP_005404
6496	6094293	Disease	p.Val250Ala	VAR_003772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003772	- Holoprosencephaly type 2 (HPE2) [MIM:157170]	SWISS	76	cd00086	4885597,NP_005404
6496	6094293	Disease	p.Val250Ala	VAR_003772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003772	- Holoprosencephaly type 2 (HPE2) [MIM:157170]	SWISS	54	pfam00046	4885597,NP_005404
6496	6094293	Disease	p.Val250Ala	VAR_003772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003772	- Holoprosencephaly type 2 (HPE2) [MIM:157170]	SWISS	84	smart00389	4885597,NP_005404
6496	6094293	Disease	p.Arg257Pro	VAR_003773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003773	- Holoprosencephaly type 2 (HPE2) [MIM:157170]	SWISS	83	cd00086	4885597,NP_005404
6496	6094293	Disease	p.Arg257Pro	VAR_003773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003773	- Holoprosencephaly type 2 (HPE2) [MIM:157170]	SWISS	61	pfam00046	4885597,NP_005404
6496	6094293	Disease	p.Arg257Pro	VAR_003773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003773	- Holoprosencephaly type 2 (HPE2) [MIM:157170]	SWISS	91	smart00389	4885597,NP_005404
6496	6094293	Disease	p.Arg257Trp	VAR_023802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023802	- Holoprosencephaly type 2 (HPE2) [MIM:157170]	SWISS	83	cd00086	4885597,NP_005404
6496	6094293	Disease	p.Arg257Trp	VAR_023802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023802	- Holoprosencephaly type 2 (HPE2) [MIM:157170]	SWISS	61	pfam00046	4885597,NP_005404
6496	6094293	Disease	p.Arg257Trp	VAR_023802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023802	- Holoprosencephaly type 2 (HPE2) [MIM:157170]	SWISS	91	smart00389	4885597,NP_005404
147912	150421671	Disease	p.Ala158Thr	VAR_032941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032941	- Branchiootorenal syndrome type 2 (BOR2) [MIM:610896]	SWISS	No Domain	N/A	NULL
147912	150421671	Disease	p.Ala296Thr	VAR_032942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032942	- Branchiootorenal syndrome type 2 (BOR2) [MIM:610896]	SWISS	No Domain	N/A	NULL
147912	150421671	Disease	p.Gly365Arg	VAR_032943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032943	- Branchiootorenal syndrome type 2 (BOR2) [MIM:610896]	SWISS	No Domain	N/A	NULL
147912	150421671	Disease	p.Thr552Met	VAR_032944	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032944	- Branchiootorenal syndrome type 2 (BOR2) [MIM:610896]	SWISS	No Domain	N/A	NULL
4990	115502450	Disease	p.Thr165Ala	VAR_026241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026241	- Microphthalmia isolated with cataract type 2 (MCOPCT2) [MIM:212550]	SWISS	56	smart00389	186910311,NP_031400
4990	115502450	Disease	p.Thr165Ala	VAR_026241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026241	- Microphthalmia isolated with cataract type 2 (MCOPCT2) [MIM:212550]	SWISS	42	pfam00046	186910311,NP_031400
4990	115502450	Disease	p.Thr165Ala	VAR_026241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026241	- Microphthalmia isolated with cataract type 2 (MCOPCT2) [MIM:212550]	SWISS	48	cd00086	186910311,NP_031400
6555	2833238	Disease	p.Leu243Pro	VAR_004614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004614	- Primary bile acid malabsorption (PBAM) [MIM:601295]	SWISS	303	COG0385	4506973,NP_000443
6555	2833238	Disease	p.Leu243Pro	VAR_004614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004614	- Primary bile acid malabsorption (PBAM) [MIM:601295]	SWISS	304	COG0798	4506973,NP_000443
6555	2833238	Disease	p.Thr262Met	VAR_004615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004615	- Primary bile acid malabsorption (PBAM) [MIM:601295]	SWISS	322	COG0385	4506973,NP_000443
6555	2833238	Disease	p.Thr262Met	VAR_004615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004615	- Primary bile acid malabsorption (PBAM) [MIM:601295]	SWISS	351	COG0798	4506973,NP_000443
4891	8247934	Disease	p.Gly212Val	VAR_033012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033012	- Hypochromic microcytic anemia [MIM:206100]	SWISS	195	pfam01566	295293169,NP_001167597|295293171,NP_001167598
4891	8247934	Disease	p.Gly212Val	VAR_033012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033012	- Hypochromic microcytic anemia [MIM:206100]	SWISS	166	COG1914	295293169,NP_001167597|295293171,NP_001167598
4891	8247934	Disease	p.Glu399Asp	VAR_033013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033013	- Hypochromic microcytic anemia [MIM:206100]	SWISS	494	pfam01566	295293169,NP_001167597|295293171,NP_001167598
4891	8247934	Disease	p.Glu399Asp	VAR_033013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033013	- Hypochromic microcytic anemia [MIM:206100]	SWISS	400	COG1914	295293169,NP_001167597|295293171,NP_001167598
4891	8247934	Disease	p.Arg416Cys	VAR_033014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033014	- Hypochromic microcytic anemia [MIM:206100]	SWISS	515	pfam01566	295293169,NP_001167597|295293171,NP_001167598
4891	8247934	Disease	p.Arg416Cys	VAR_033014	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033014	- Hypochromic microcytic anemia [MIM:206100]	SWISS	417	COG1914	295293169,NP_001167597|295293171,NP_001167598
6557	212276464	Disease	p.Val272Phe	VAR_010223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010223	- Bartter syndrome type 1 (BS1) [MIM:601678]	SWISS	113	pfam00324	134254459,NP_000329
6557	212276464	Disease	p.Val272Phe	VAR_010223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010223	- Bartter syndrome type 1 (BS1) [MIM:601678]	SWISS	204	COG0531	134254459,NP_000329
6557	212276464	Disease	p.Asp648Asn	VAR_010224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010224	- Bartter syndrome type 1 (BS1) [MIM:601678]	SWISS	561	pfam00324	134254459,NP_000329
6557	212276464	Disease	p.Asp648Asn	VAR_010224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010224	- Bartter syndrome type 1 (BS1) [MIM:601678]	SWISS	1009	COG0531	134254459,NP_000329
6559	223634707	Disease	p.Thr60Met	VAR_039475	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039475	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Asp62Asn	VAR_039476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039476	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Glu68Lys	VAR_039477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039477	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.His69Asn	VAR_039478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039478	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.His90Tyr	VAR_039479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039479	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Arg145His	VAR_039480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039480	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Val153Met	VAR_039481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039481	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Ile154Phe	VAR_039482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039482	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Arg158Gln	VAR_039483	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039483	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Thr163Met	VAR_039484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039484	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Trp172Arg	VAR_039485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039485	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Ser178Leu	VAR_039486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039486	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Thr180Lys	VAR_039487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039487	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Gly186Asp	VAR_039488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039488	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Arg209Gln	VAR_039489	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039489	rs28936388 Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Arg209Trp	VAR_007113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007113	rs28936388 Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Leu215Pro	VAR_039490	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039490	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Ala226Thr	VAR_039491	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039491	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Gly230Asp	VAR_039492	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039492	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Arg261His	VAR_039493	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039493	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Ser283Tyr	VAR_039495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039495	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Lys284Arg	VAR_039496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039496	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Thr304Pro	VAR_039497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039497	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Ala313Val	VAR_039498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039498	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Gly316Val	VAR_039499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039499	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Arg321Trp	VAR_039500	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039500	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Arg334Trp	VAR_039501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039501	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Gly342Ala	VAR_039502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039502	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Pro349Leu	VAR_007114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007114	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Gly374Val	VAR_039503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039503	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Arg399Cys	VAR_039504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039504	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Cys421Arg	VAR_007115	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007115	rs28936387 Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Gly439Ser	VAR_039505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039505	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Gly463Glu	VAR_039506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039506	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Ala464Thr	VAR_039507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039507	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Lys478Glu	VAR_039508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039508	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Asp486Asn	VAR_007116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007116	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Gly496Cys	VAR_007117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007117	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Leu542Pro	VAR_039509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039509	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Ser555Leu	VAR_039510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039510	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Pro560His	VAR_039511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039511	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Ala569Glu	VAR_039512	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039512	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Ala569Val	VAR_039513	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039513	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Val578Met	VAR_039514	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039514	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Ala588Val	VAR_007119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007119	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Gly613Ser	VAR_039515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039515	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Ser615Leu	VAR_039516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039516	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Ser615Trp	VAR_039517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039517	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Leu623Pro	VAR_039518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039518	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Gly630Val	VAR_007120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007120	rs28936389 Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Arg642Cys	VAR_039519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039519	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Arg642Gly	VAR_039520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039520	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Arg642His	VAR_039521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039521	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Pro643Leu	VAR_039522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039522	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Thr649Arg	VAR_039523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039523	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Arg655Cys	VAR_039524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039524	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Arg655His	VAR_007121	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007121	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Arg655Leu	VAR_007122	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007122	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Met672Ile	VAR_039525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039525	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Val677Leu	VAR_039526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039526	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Val677Met	VAR_039527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039527	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Gly729Val	VAR_039528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039528	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Gly731Arg	VAR_039529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039529	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Leu738Arg	VAR_039530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039530	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Gly741Arg	VAR_007124	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007124	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Leu849His	VAR_039531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039531	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Leu850Pro	VAR_007125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007125	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Arg852Cys	VAR_039532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039532	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Arg852His	VAR_039533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039533	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Arg852Ser	VAR_039534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039534	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Gly867Ser	VAR_039535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039535	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Arg871His	VAR_039536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039536	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Arg955Gln	VAR_007126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007126	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Arg958Gly	VAR_039539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039539	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6559	223634707	Disease	p.Cys985Tyr	VAR_039540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039540	- Gitelman syndrome (GS) [MIM:263800]	SWISS	No Domain	N/A	186910319,NP_001119580
6566	13432183	Disease	p.Lys204Glu	VAR_010434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010434	- Symptomatic deficiency in lactate transport (SDLT) [MIM:245340]	SWISS	386	pfam07690	NULL
6566	13432183	Disease	p.Lys204Glu	VAR_010434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010434	- Symptomatic deficiency in lactate transport (SDLT) [MIM:245340]	SWISS	359	cd06174	NULL
6566	13432183	Disease	p.Gly472Arg	VAR_010435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010435	- Symptomatic deficiency in lactate transport (SDLT) [MIM:245340]	SWISS	No Domain	N/A	NULL
6567	114152841	Disease	p.Ser120Phe	VAR_059054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059054	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	28	pfam07690	NULL
6567	114152841	Disease	p.Ser120Phe	VAR_059054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059054	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	19	COG2223	NULL
6567	114152841	Disease	p.Ser120Phe	VAR_059054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059054	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	20	cd06174	NULL
6567	114152841	Disease	p.Ala150Val	VAR_022348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022348	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	137	pfam07690	NULL
6567	114152841	Disease	p.Ala150Val	VAR_022348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022348	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	17	COG2814	NULL
6567	114152841	Disease	p.Ala150Val	VAR_022348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022348	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	67	COG2223	NULL
6567	114152841	Disease	p.Ala150Val	VAR_022348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022348	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	101	cd06174	NULL
6567	114152841	Disease	p.Val161Met	VAR_059056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059056	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	153	pfam07690	NULL
6567	114152841	Disease	p.Val161Met	VAR_059056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059056	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	40	COG2814	NULL
6567	114152841	Disease	p.Val161Met	VAR_059056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059056	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	78	COG2223	NULL
6567	114152841	Disease	p.Val161Met	VAR_059056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059056	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	112	cd06174	NULL
6567	114152841	Disease	p.Leu360Trp	VAR_059057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059057	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	573	pfam07690	NULL
6567	114152841	Disease	p.Leu360Trp	VAR_059057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059057	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	262	COG2814	NULL
6567	114152841	Disease	p.Leu360Trp	VAR_059057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059057	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	362	COG2223	NULL
6567	114152841	Disease	p.Leu360Trp	VAR_059057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059057	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	561	cd06174	NULL
6567	114152841	Disease	p.Leu397Pro	VAR_022349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022349	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	627	pfam07690	NULL
6567	114152841	Disease	p.Leu397Pro	VAR_022349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022349	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	296	COG2814	NULL
6567	114152841	Disease	p.Leu397Pro	VAR_022349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022349	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	399	COG2223	NULL
6567	114152841	Disease	p.Leu397Pro	VAR_022349	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022349	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	639	cd06174	NULL
6567	114152841	Disease	p.Leu438Pro	VAR_022350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022350	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	705	pfam07690	NULL
6567	114152841	Disease	p.Leu438Pro	VAR_022350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022350	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	347	COG2814	NULL
6567	114152841	Disease	p.Leu438Pro	VAR_022350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022350	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	464	COG2223	NULL
6567	114152841	Disease	p.Leu438Pro	VAR_022350	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022350	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	777	cd06174	NULL
6567	114152841	Disease	p.Gly490Arg	VAR_059059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059059	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	407	COG2814	NULL
6567	114152841	Disease	p.Gly490Arg	VAR_059059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059059	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	539	COG2223	NULL
6567	114152841	Disease	p.Gly490Arg	VAR_059059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059059	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	905	cd06174	NULL
6567	114152841	Disease	p.Leu494Pro	VAR_059060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059060	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	411	COG2814	NULL
6567	114152841	Disease	p.Leu494Pro	VAR_059060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059060	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	543	COG2223	NULL
6567	114152841	Disease	p.Leu494Pro	VAR_059060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059060	- Monocarboxylate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]	SWISS	909	cd06174	NULL
26503	48428688	Disease	p.Arg39Cys	VAR_018684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018684	- Salla disease (SD) [MIM:604369]	SWISS	22	COG2271	6912666,NP_036566
26503	48428688	Disease	p.Arg39Cys	VAR_018684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018684	- Salla disease (SD) [MIM:604369]	SWISS	4	COG0477	6912666,NP_036566
26503	48428688	Disease	p.Lys136Glu	VAR_018685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018685	- Salla disease (SD) [MIM:604369]	SWISS	141	pfam00083	6912666,NP_036566
26503	48428688	Disease	p.Lys136Glu	VAR_018685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018685	- Salla disease (SD) [MIM:604369]	SWISS	96	COG2271	6912666,NP_036566
26503	48428688	Disease	p.Lys136Glu	VAR_018685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018685	- Salla disease (SD) [MIM:604369]	SWISS	178	pfam07690	6912666,NP_036566
26503	48428688	Disease	p.Lys136Glu	VAR_018685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018685	- Salla disease (SD) [MIM:604369]	SWISS	78	COG2814	6912666,NP_036566
26503	48428688	Disease	p.Lys136Glu	VAR_018685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018685	- Salla disease (SD) [MIM:604369]	SWISS	156	COG0477	6912666,NP_036566
26503	48428688	Disease	p.Lys136Glu	VAR_018685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018685	- Salla disease (SD) [MIM:604369]	SWISS	128	cd06174	6912666,NP_036566
26503	48428688	Disease	p.His183Arg	VAR_018686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018686	- Infantile sialic acid storage disorder (ISSD) [MIM:269920]	SWISS	206	pfam00083	6912666,NP_036566
26503	48428688	Disease	p.His183Arg	VAR_018686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018686	- Infantile sialic acid storage disorder (ISSD) [MIM:269920]	SWISS	146	COG2271	6912666,NP_036566
26503	48428688	Disease	p.His183Arg	VAR_018686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018686	- Infantile sialic acid storage disorder (ISSD) [MIM:269920]	SWISS	249	pfam07690	6912666,NP_036566
26503	48428688	Disease	p.His183Arg	VAR_018686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018686	- Infantile sialic acid storage disorder (ISSD) [MIM:269920]	SWISS	123	COG2814	6912666,NP_036566
26503	48428688	Disease	p.His183Arg	VAR_018686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018686	- Infantile sialic acid storage disorder (ISSD) [MIM:269920]	SWISS	304	COG0477	6912666,NP_036566
26503	48428688	Disease	p.His183Arg	VAR_018686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018686	- Infantile sialic acid storage disorder (ISSD) [MIM:269920]	SWISS	224	cd06174	6912666,NP_036566
26503	48428688	Disease	p.Pro334Arg	VAR_018688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018688	- Infantile sialic acid storage disorder (ISSD) [MIM:269920]	SWISS	405	pfam00083	6912666,NP_036566
26503	48428688	Disease	p.Pro334Arg	VAR_018688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018688	- Infantile sialic acid storage disorder (ISSD) [MIM:269920]	SWISS	343	COG2271	6912666,NP_036566
26503	48428688	Disease	p.Pro334Arg	VAR_018688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018688	- Infantile sialic acid storage disorder (ISSD) [MIM:269920]	SWISS	573	pfam07690	6912666,NP_036566
26503	48428688	Disease	p.Pro334Arg	VAR_018688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018688	- Infantile sialic acid storage disorder (ISSD) [MIM:269920]	SWISS	264	COG2814	6912666,NP_036566
26503	48428688	Disease	p.Pro334Arg	VAR_018688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018688	- Infantile sialic acid storage disorder (ISSD) [MIM:269920]	SWISS	647	COG0477	6912666,NP_036566
26503	48428688	Disease	p.Pro334Arg	VAR_018688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018688	- Infantile sialic acid storage disorder (ISSD) [MIM:269920]	SWISS	564	cd06174	6912666,NP_036566
26503	48428688	Disease	p.Gly371Val	VAR_018689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018689	- Infantile sialic acid storage disorder (ISSD) [MIM:269920]	SWISS	451	pfam00083	6912666,NP_036566
26503	48428688	Disease	p.Gly371Val	VAR_018689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018689	- Infantile sialic acid storage disorder (ISSD) [MIM:269920]	SWISS	373	COG2271	6912666,NP_036566
26503	48428688	Disease	p.Gly371Val	VAR_018689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018689	- Infantile sialic acid storage disorder (ISSD) [MIM:269920]	SWISS	630	pfam07690	6912666,NP_036566
26503	48428688	Disease	p.Gly371Val	VAR_018689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018689	- Infantile sialic acid storage disorder (ISSD) [MIM:269920]	SWISS	302	COG2814	6912666,NP_036566
26503	48428688	Disease	p.Gly371Val	VAR_018689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018689	- Infantile sialic acid storage disorder (ISSD) [MIM:269920]	SWISS	733	COG0477	6912666,NP_036566
26503	48428688	Disease	p.Gly371Val	VAR_018689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018689	- Infantile sialic acid storage disorder (ISSD) [MIM:269920]	SWISS	635	cd06174	6912666,NP_036566
246213	74723817	Disease	p.Ala211Val	VAR_054130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054130	- Deafness autosomal dominant type 25 (DFNA25) [MIM:605583]	SWISS	256	pfam07690	21322234,NP_647480
246213	74723817	Disease	p.Ala211Val	VAR_054130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054130	- Deafness autosomal dominant type 25 (DFNA25) [MIM:605583]	SWISS	213	pfam00083	21322234,NP_647480
246213	74723817	Disease	p.Ala211Val	VAR_054130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054130	- Deafness autosomal dominant type 25 (DFNA25) [MIM:605583]	SWISS	153	COG2271	21322234,NP_647480
246213	74723817	Disease	p.Ala211Val	VAR_054130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054130	- Deafness autosomal dominant type 25 (DFNA25) [MIM:605583]	SWISS	312	COG0477	21322234,NP_647480
246213	74723817	Disease	p.Ala211Val	VAR_054130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054130	- Deafness autosomal dominant type 25 (DFNA25) [MIM:605583]	SWISS	231	cd06174	21322234,NP_647480
10560	12643426	Disease	p.Asp93His	VAR_010249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010249	- Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]	SWISS	66	pfam01770	27734719,NP_008927
10560	12643426	Disease	p.Asp93His	VAR_010249	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010249	- Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]	SWISS	123	cd06174	27734719,NP_008927
10560	12643426	Disease	p.Ser143Phe	VAR_010250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010250	- Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]	SWISS	116	pfam01770	27734719,NP_008927
10560	12643426	Disease	p.Ser143Phe	VAR_010250	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010250	- Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]	SWISS	224	cd06174	27734719,NP_008927
10560	12643426	Disease	p.Gly172Asp	VAR_010248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010248	rs28937595 Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]	SWISS	150	pfam01770	27734719,NP_008927
10560	12643426	Disease	p.Gly172Asp	VAR_010248	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010248	rs28937595 Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]	SWISS	273	cd06174	27734719,NP_008927
80704	74733486	Disease	p.Gly23Val	VAR_025992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025992	- Biotin-responsive basal ganglia disease (BBGD) [MIM:607483]	SWISS	13	cd06174	13376856,NP_079519
80704	74733486	Disease	p.Gly23Val	VAR_025992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025992	- Biotin-responsive basal ganglia disease (BBGD) [MIM:607483]	SWISS	14	pfam01770	13376856,NP_079519
80704	74733486	Disease	p.Thr422Ala	VAR_025993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025993	- Biotin-responsive basal ganglia disease (BBGD) [MIM:607483]	SWISS	816	cd06174	13376856,NP_079519
80704	74733486	Disease	p.Thr422Ala	VAR_025993	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025993	- Biotin-responsive basal ganglia disease (BBGD) [MIM:607483]	SWISS	447	pfam01770	13376856,NP_079519
6507	1169458	Disease	p.Pro290Arg	VAR_031733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031733	- Episodic ataxia type 6 (EA6) [MIM:612656]	SWISS	677	pfam00375	169790839,NP_004163
6507	1169458	Disease	p.Pro290Arg	VAR_031733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031733	- Episodic ataxia type 6 (EA6) [MIM:612656]	SWISS	202	COG3633	169790839,NP_004163
6507	1169458	Disease	p.Pro290Arg	VAR_031733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031733	- Episodic ataxia type 6 (EA6) [MIM:612656]	SWISS	249	COG1823	169790839,NP_004163
6507	1169458	Disease	p.Pro290Arg	VAR_031733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031733	- Episodic ataxia type 6 (EA6) [MIM:612656]	SWISS	264	COG1301	169790839,NP_004163
116085	74732700	Disease	p.Arg90His	VAR_036721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036721	- Renal hypouricemia (RH) [MIM:220150]	SWISS	No Domain	N/A	24497485,NP_653186
116085	74732700	Disease	p.Val138Met	VAR_036723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036723	- Renal hypouricemia (RH) [MIM:220150]	SWISS	33	pfam00083	24497485,NP_653186
116085	74732700	Disease	p.Val138Met	VAR_036723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036723	- Renal hypouricemia (RH) [MIM:220150]	SWISS	13	pfam07690	24497485,NP_653186
116085	74732700	Disease	p.Val138Met	VAR_036723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036723	- Renal hypouricemia (RH) [MIM:220150]	SWISS	26	cd06174	24497485,NP_653186
116085	74732700	Disease	p.Gly164Ser	VAR_036724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036724	- Renal hypouricemia (RH) [MIM:220150]	SWISS	132	pfam00083	24497485,NP_653186
116085	74732700	Disease	p.Gly164Ser	VAR_036724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036724	- Renal hypouricemia (RH) [MIM:220150]	SWISS	155	pfam07690	24497485,NP_653186
116085	74732700	Disease	p.Gly164Ser	VAR_036724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036724	- Renal hypouricemia (RH) [MIM:220150]	SWISS	113	cd06174	24497485,NP_653186
116085	74732700	Disease	p.Thr217Met	VAR_036725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036725	- Renal hypouricemia (RH) [MIM:220150]	SWISS	205	pfam00083	24497485,NP_653186
116085	74732700	Disease	p.Thr217Met	VAR_036725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036725	- Renal hypouricemia (RH) [MIM:220150]	SWISS	248	pfam07690	24497485,NP_653186
116085	74732700	Disease	p.Thr217Met	VAR_036725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036725	- Renal hypouricemia (RH) [MIM:220150]	SWISS	223	cd06174	24497485,NP_653186
116085	74732700	Disease	p.Glu298Asp	VAR_036730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036730	- Renal hypouricemia (RH) [MIM:220150]	SWISS	308	pfam00083	24497485,NP_653186
116085	74732700	Disease	p.Glu298Asp	VAR_036730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036730	- Renal hypouricemia (RH) [MIM:220150]	SWISS	403	pfam07690	24497485,NP_653186
116085	74732700	Disease	p.Glu298Asp	VAR_036730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036730	- Renal hypouricemia (RH) [MIM:220150]	SWISS	369	cd06174	24497485,NP_653186
116085	74732700	Disease	p.Gln382Leu	VAR_036734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036734	- Renal hypouricemia (RH) [MIM:220150]	SWISS	409	pfam00083	24497485,NP_653186
116085	74732700	Disease	p.Gln382Leu	VAR_036734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036734	- Renal hypouricemia (RH) [MIM:220150]	SWISS	573	pfam07690	24497485,NP_653186
116085	74732700	Disease	p.Gln382Leu	VAR_036734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036734	- Renal hypouricemia (RH) [MIM:220150]	SWISS	561	cd06174	24497485,NP_653186
116085	74732700	Disease	p.Leu418Arg	VAR_036735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036735	- Renal hypouricemia (RH) [MIM:220150]	SWISS	466	pfam00083	24497485,NP_653186
116085	74732700	Disease	p.Leu418Arg	VAR_036735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036735	- Renal hypouricemia (RH) [MIM:220150]	SWISS	626	pfam07690	24497485,NP_653186
116085	74732700	Disease	p.Leu418Arg	VAR_036735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036735	- Renal hypouricemia (RH) [MIM:220150]	SWISS	641	cd06174	24497485,NP_653186
116085	74732700	Disease	p.Met430Thr	VAR_036736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036736	- Renal hypouricemia (RH) [MIM:220150]	SWISS	493	pfam00083	24497485,NP_653186
116085	74732700	Disease	p.Met430Thr	VAR_036736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036736	- Renal hypouricemia (RH) [MIM:220150]	SWISS	657	pfam07690	24497485,NP_653186
116085	74732700	Disease	p.Met430Thr	VAR_036736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036736	- Renal hypouricemia (RH) [MIM:220150]	SWISS	748	cd06174	24497485,NP_653186
116085	74732700	Disease	p.Arg477His	VAR_036737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036737	- Renal hypouricemia (RH) [MIM:220150]	SWISS	541	pfam00083	24497485,NP_653186
116085	74732700	Disease	p.Arg477His	VAR_036737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036737	- Renal hypouricemia (RH) [MIM:220150]	SWISS	742	pfam07690	24497485,NP_653186
116085	74732700	Disease	p.Arg477His	VAR_036737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036737	- Renal hypouricemia (RH) [MIM:220150]	SWISS	809	cd06174	24497485,NP_653186
6584	8928257	Disease	p.Arg169Gln	VAR_009252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009252	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	177	pfam07690	4507005,NP_003051
6584	8928257	Disease	p.Arg169Gln	VAR_009252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009252	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	155	COG0477	4507005,NP_003051
6584	8928257	Disease	p.Arg169Gln	VAR_009252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009252	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	127	cd06174	4507005,NP_003051
6584	8928257	Disease	p.Arg169Gln	VAR_009252	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009252	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	140	pfam00083	4507005,NP_003051
6584	8928257	Disease	p.Met179Leu	VAR_022564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022564	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	188	pfam07690	4507005,NP_003051
6584	8928257	Disease	p.Met179Leu	VAR_022564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022564	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	175	COG0477	4507005,NP_003051
6584	8928257	Disease	p.Met179Leu	VAR_022564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022564	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	150	cd06174	4507005,NP_003051
6584	8928257	Disease	p.Met179Leu	VAR_022564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022564	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	152	pfam00083	4507005,NP_003051
6584	8928257	Disease	p.Tyr211Cys	VAR_009253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009253	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	245	pfam07690	4507005,NP_003051
6584	8928257	Disease	p.Tyr211Cys	VAR_009253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009253	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	300	COG0477	4507005,NP_003051
6584	8928257	Disease	p.Tyr211Cys	VAR_009253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009253	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	220	cd06174	4507005,NP_003051
6584	8928257	Disease	p.Tyr211Cys	VAR_009253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009253	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	202	pfam00083	4507005,NP_003051
6584	8928257	Disease	p.Trp283Cys	VAR_022565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022565	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	389	pfam07690	4507005,NP_003051
6584	8928257	Disease	p.Trp283Cys	VAR_022565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022565	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	459	COG0477	4507005,NP_003051
6584	8928257	Disease	p.Trp283Cys	VAR_022565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022565	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	356	cd06174	4507005,NP_003051
6584	8928257	Disease	p.Trp283Cys	VAR_022565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022565	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	293	pfam00083	4507005,NP_003051
6584	8928257	Disease	p.Trp283Arg	VAR_009254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009254	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	389	pfam07690	4507005,NP_003051
6584	8928257	Disease	p.Trp283Arg	VAR_009254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009254	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	459	COG0477	4507005,NP_003051
6584	8928257	Disease	p.Trp283Arg	VAR_009254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009254	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	356	cd06174	4507005,NP_003051
6584	8928257	Disease	p.Trp283Arg	VAR_009254	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009254	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	293	pfam00083	4507005,NP_003051
6584	8928257	Disease	p.Val446Phe	VAR_009255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009255	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	698	pfam07690	4507005,NP_003051
6584	8928257	Disease	p.Val446Phe	VAR_009255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009255	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	752	COG0477	4507005,NP_003051
6584	8928257	Disease	p.Val446Phe	VAR_009255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009255	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	770	cd06174	4507005,NP_003051
6584	8928257	Disease	p.Val446Phe	VAR_009255	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009255	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	516	pfam00083	4507005,NP_003051
6584	8928257	Disease	p.Glu452Lys	VAR_009256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009256	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	704	pfam07690	4507005,NP_003051
6584	8928257	Disease	p.Glu452Lys	VAR_009256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009256	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	758	COG0477	4507005,NP_003051
6584	8928257	Disease	p.Glu452Lys	VAR_009256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009256	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	776	cd06174	4507005,NP_003051
6584	8928257	Disease	p.Glu452Lys	VAR_009256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009256	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	522	pfam00083	4507005,NP_003051
6584	8928257	Disease	p.Ser467Cys	VAR_022566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022566	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	737	pfam07690	4507005,NP_003051
6584	8928257	Disease	p.Ser467Cys	VAR_022566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022566	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	790	COG0477	4507005,NP_003051
6584	8928257	Disease	p.Ser467Cys	VAR_022566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022566	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	805	cd06174	4507005,NP_003051
6584	8928257	Disease	p.Ser467Cys	VAR_022566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022566	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	537	pfam00083	4507005,NP_003051
6584	8928257	Disease	p.Pro478Leu	VAR_009257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009257	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	801	COG0477	4507005,NP_003051
6584	8928257	Disease	p.Pro478Leu	VAR_009257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009257	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	816	cd06174	4507005,NP_003051
6584	8928257	Disease	p.Pro478Leu	VAR_009257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009257	- Systemic primary carnitine deficiency (CDSP) [MIM:212140]	SWISS	550	pfam00083	4507005,NP_003051
8604	206729858	Disease	p.Gln590Arg	VAR_063253	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063253	- Aspartate-glutamate carrier 1 deficiency (AGC1D) [MIM:612949]	SWISS	129	pfam00153	21361103,NP_003696
10165	13124095	Disease	p.Glu601Lys	VAR_016601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016601	- Neonatal intrahepatic cholestasis due to citrin deficiency (NICCD) [MIM:605814]	SWISS	142	pfam00153	7657581,NP_055066
10166	20139303	Disease	p.Gly27Glu	VAR_012757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012757	- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]	SWISS	24	pfam00153	7657585,NP_055067
10166	20139303	Disease	p.Gly27Arg	VAR_012758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012758	- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]	SWISS	24	pfam00153	7657585,NP_055067
10166	20139303	Disease	p.Met37Arg	VAR_058948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058948	- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]	SWISS	34	pfam00153	7657585,NP_055067
10166	20139303	Disease	p.Ala70Leu	VAR_058949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058949	- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]	SWISS	122	pfam00153	7657585,NP_055067
10166	20139303	Disease	p.Leu71Gln	VAR_058950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058950	- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]	SWISS	123	pfam00153	7657585,NP_055067
10166	20139303	Disease	p.Gly113Cys	VAR_058951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058951	- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]	SWISS	12	pfam00153	7657585,NP_055067
10166	20139303	Disease	p.Pro126Arg	VAR_012759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012759	- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]	SWISS	26	pfam00153	7657585,NP_055067
10166	20139303	Disease	p.Glu180Lys	VAR_012760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012760	- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]	SWISS	126	pfam00153	7657585,NP_055067
10166	20139303	Disease	p.Phe188Leu	VAR_058952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058952	- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]	SWISS	134	pfam00153	7657585,NP_055067
10166	20139303	Disease	p.Gly190Asp	VAR_012762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012762	- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]	SWISS	140	pfam00153	7657585,NP_055067
10166	20139303	Disease	p.Gly216Ser	VAR_058953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058953	- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]	SWISS	12	pfam00153	7657585,NP_055067
10166	20139303	Disease	p.Thr272Ile	VAR_058954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058954	- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]	SWISS	122	pfam00153	7657585,NP_055067
10166	20139303	Disease	p.Met273Lys	VAR_058955	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058955	- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]	SWISS	123	pfam00153	7657585,NP_055067
10166	20139303	Disease	p.Arg275Gln	VAR_012764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012764	- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]	SWISS	125	pfam00153	7657585,NP_055067
10166	20139303	Disease	p.Leu283Phe	VAR_058956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058956	- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]	SWISS	133	pfam00153	7657585,NP_055067
60386	20137652	Disease	p.Gly177Ala	VAR_014103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014103	- Microcephaly Amish type (MCPHA) [MIM:607196]	SWISS	118	pfam00153	186928858,NP_001119593|186928860,NP_001119594|186928856,NP_068380
788	3914023	Disease	p.Arg133Trp	VAR_021818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021818	- Carnitine-acylcarnitine translocase deficiency (CACT deficiency) [MIM:212138]	SWISS	29	pfam00153	4557403,NP_000378
788	3914023	Disease	p.Asp231His	VAR_021819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021819	- Carnitine-acylcarnitine translocase deficiency (CACT deficiency) [MIM:212138]	SWISS	28	pfam00153	4557403,NP_000378
788	3914023	Disease	p.Gln238Arg	VAR_021820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021820	rs28934589 Carnitine-acylcarnitine translocase deficiency (CACT deficiency) [MIM:212138]	SWISS	35	pfam00153	4557403,NP_000378
79751	34222632	Disease	p.Pro206Leu	VAR_022737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022737	- Epileptic encephalopathy early infantile type 3 (EIEE3) [MIM:609304]	SWISS	135	pfam00153	300796991,NP_001177990|13375983,NP_078974|300796970,NP_001177989
5250	730052	Disease	p.Gly72Glu	VAR_032850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032850	- Mitochondrial phosphate carrier deficiency (MPCD) [MIM:610773]	SWISS	12	pfam00153	6031192,NP_005879
54977	74751821	Disease	p.Gly130Glu	VAR_058093	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058093	- Anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA) [MIM:205950]	SWISS	12	pfam00153	157388925,NP_060345
54977	74751821	Disease	p.Arg134His	VAR_058094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058094	- Anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA) [MIM:205950]	SWISS	16	pfam00153	157388925,NP_060345
54977	74751821	Disease	p.Arg187Pro	VAR_058095	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058095	- Anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA) [MIM:205950]	SWISS	125	pfam00153	157388925,NP_060345
54977	74751821	Disease	p.Asp209His	VAR_058096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058096	- Anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA) [MIM:205950]	SWISS	151	pfam00153	157388925,NP_060345
291	113455	Disease	p.Ala90Asp	VAR_038814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038814	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283]	SWISS	135	pfam00153	55749577,NP_001142
291	113455	Disease	p.Leu98Pro	VAR_022459	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022459	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283]	SWISS	147	pfam00153	55749577,NP_001142
291	113455	Disease	p.Asp104Gly	VAR_022460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022460	rs28999114 Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283]	SWISS	No Domain	N/A	55749577,NP_001142
291	113455	Disease	p.Ala114Pro	VAR_012111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012111	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283]	SWISS	6	pfam00153	55749577,NP_001142
291	113455	Disease	p.Val289Met	VAR_012112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012112	- Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283]	SWISS	135	pfam00153	55749577,NP_001142
1836	254763328	Disease	p.Gly255Glu	VAR_007434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007434	- Atelosteogenesis type 2 (AO2) [MIM:256050]	SWISS	216	COG0659	100913030,NP_000103
1836	254763328	Disease	p.Gly255Glu	VAR_007434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007434	- Atelosteogenesis type 2 (AO2) [MIM:256050]	SWISS	20	pfam00916	100913030,NP_000103
1836	254763328	Disease	p.Arg279Trp	VAR_007435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007435	- Atelosteogenesis type 2 (AO2) [MIM:256050]	SWISS	240	COG0659	100913030,NP_000103
1836	254763328	Disease	p.Arg279Trp	VAR_007435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007435	- Atelosteogenesis type 2 (AO2) [MIM:256050]	SWISS	47	pfam00916	100913030,NP_000103
1836	254763328	Disease	p.Asn425Asp	VAR_007437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007437	- Achondrogenesis type 1B (ACG1B) [MIM:600972]	SWISS	441	COG0659	100913030,NP_000103
1836	254763328	Disease	p.Asn425Asp	VAR_007437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007437	- Achondrogenesis type 1B (ACG1B) [MIM:600972]	SWISS	228	pfam00916	100913030,NP_000103
1836	254763328	Disease	p.Cys653Ser	VAR_018655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018655	- Multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900]	SWISS	723	COG0659	100913030,NP_000103
1836	254763328	Disease	p.Cys653Ser	VAR_018655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018655	- Multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900]	SWISS	85	cd06844	100913030,NP_000103
1836	254763328	Disease	p.Cys653Ser	VAR_018655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018655	- Multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900]	SWISS	133	pfam01740	100913030,NP_000103
1836	254763328	Disease	p.Cys653Ser	VAR_018655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018655	- Multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900]	SWISS	197	cd07042	100913030,NP_000103
1836	254763328	Disease	p.Gly678Val	VAR_007438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007438	- Achondrogenesis type 1B (ACG1B) [MIM:600972]	SWISS	816	COG0659	100913030,NP_000103
1836	254763328	Disease	p.Gly678Val	VAR_007438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007438	- Achondrogenesis type 1B (ACG1B) [MIM:600972]	SWISS	110	cd06844	100913030,NP_000103
1836	254763328	Disease	p.Gly678Val	VAR_007438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007438	- Achondrogenesis type 1B (ACG1B) [MIM:600972]	SWISS	161	pfam01740	100913030,NP_000103
1836	254763328	Disease	p.Gly678Val	VAR_007438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007438	- Achondrogenesis type 1B (ACG1B) [MIM:600972]	SWISS	228	cd07042	100913030,NP_000103
1836	254763328	Disease	p.Ala715Val	VAR_007439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007439	- Atelosteogenesis type 2 (AO2) [MIM:256050]	SWISS	916	COG0659	100913030,NP_000103
1811	729367	Disease	p.Gly120Ser	VAR_007428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007428	- Congenital secretory chloride diarrhea type 1 (DIAR1) [MIM:214700]	SWISS	104	COG0659	4557535,NP_000102
1811	729367	Disease	p.His124Leu	VAR_007429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007429	- Congenital secretory chloride diarrhea type 1 (DIAR1) [MIM:214700]	SWISS	108	COG0659	4557535,NP_000102
1811	729367	Disease	p.Pro131Arg	VAR_007430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007430	- Congenital secretory chloride diarrhea type 1 (DIAR1) [MIM:214700]	SWISS	120	COG0659	4557535,NP_000102
1811	729367	Disease	p.Ser206Pro	VAR_012777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012777	- Congenital secretory chloride diarrhea type 1 (DIAR1) [MIM:214700]	SWISS	210	COG0659	4557535,NP_000102
1811	729367	Disease	p.Ser206Pro	VAR_012777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012777	- Congenital secretory chloride diarrhea type 1 (DIAR1) [MIM:214700]	SWISS	14	pfam00916	4557535,NP_000102
1811	729367	Disease	p.Asp468Val	VAR_012778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012778	- Congenital secretory chloride diarrhea type 1 (DIAR1) [MIM:214700]	SWISS	530	COG0659	4557535,NP_000102
1811	729367	Disease	p.Asp468Val	VAR_012778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012778	- Congenital secretory chloride diarrhea type 1 (DIAR1) [MIM:214700]	SWISS	317	pfam00916	4557535,NP_000102
5172	6174895	Disease	p.Ser28Arg	VAR_021639	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021639	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	No Domain	N/A	4505697,NP_000432
5172	6174895	Disease	p.Ser28Arg	VAR_021639	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021639	- Pendred syndrome (PDS) [MIM:274600]	SWISS	No Domain	N/A	4505697,NP_000432
5172	6174895	Disease	p.Glu29Gln	VAR_021640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021640	- Pendred syndrome (PDS) [MIM:274600]	SWISS	No Domain	N/A	4505697,NP_000432
5172	6174895	Disease	p.Tyr78Cys	VAR_021641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021641	- Pendred syndrome (PDS) [MIM:274600]	SWISS	16	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Ser90Leu	VAR_021642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021642	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	46	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Gly102Arg	VAR_021643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021643	- Pendred syndrome (PDS) [MIM:274600]	SWISS	72	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Tyr105Cys	VAR_021645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021645	- Pendred syndrome (PDS) [MIM:274600]	SWISS	75	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Ala106Asp	VAR_021646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021646	- Pendred syndrome (PDS) [MIM:274600]	SWISS	76	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Leu117Phe	VAR_021647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021647	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	90	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Leu117Phe	VAR_021647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021647	- Pendred syndrome (PDS) [MIM:274600]	SWISS	90	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Pro123Ser	VAR_027238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027238	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	96	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Thr132Ile	VAR_021648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021648	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	105	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Ser133Thr	VAR_021649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021649	- Pendred syndrome (PDS) [MIM:274600]	SWISS	106	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Ser137Pro	VAR_021650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021650	- Pendred syndrome (PDS) [MIM:274600]	SWISS	111	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Val138Phe	VAR_021651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021651	- Pendred syndrome (PDS) [MIM:274600]	SWISS	112	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Gly139Ala	VAR_021652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021652	- Pendred syndrome (PDS) [MIM:274600]	SWISS	113	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Met147Val	VAR_027239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027239	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	125	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Thr193Ile	VAR_011623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011623	- Pendred syndrome (PDS) [MIM:274600]	SWISS	187	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Gly209Val	VAR_007440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007440	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	7	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Gly209Val	VAR_007440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007440	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	203	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Gly209Val	VAR_007440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007440	- Pendred syndrome (PDS) [MIM:274600]	SWISS	7	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Gly209Val	VAR_007440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007440	- Pendred syndrome (PDS) [MIM:274600]	SWISS	203	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Leu236Pro	VAR_007441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007441	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	34	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Leu236Pro	VAR_007441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007441	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	230	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Leu236Pro	VAR_007441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007441	- Pendred syndrome (PDS) [MIM:274600]	SWISS	34	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Leu236Pro	VAR_007441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007441	- Pendred syndrome (PDS) [MIM:274600]	SWISS	230	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Val239Asp	VAR_021653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021653	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	37	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Val239Asp	VAR_021653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021653	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	233	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Val239Asp	VAR_021653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021653	- Pendred syndrome (PDS) [MIM:274600]	SWISS	37	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Val239Asp	VAR_021653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021653	- Pendred syndrome (PDS) [MIM:274600]	SWISS	233	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Ser252Pro	VAR_021654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021654	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	53	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Ser252Pro	VAR_021654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021654	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	249	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Asp271His	VAR_021655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021655	- Pendred syndrome (PDS) [MIM:274600]	SWISS	83	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Asp271His	VAR_021655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021655	- Pendred syndrome (PDS) [MIM:274600]	SWISS	268	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Phe335Leu	VAR_021656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021656	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	164	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Phe335Leu	VAR_021656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021656	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	373	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Phe335Leu	VAR_021656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021656	- Pendred syndrome (PDS) [MIM:274600]	SWISS	164	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Phe335Leu	VAR_021656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021656	- Pendred syndrome (PDS) [MIM:274600]	SWISS	373	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Lys369Glu	VAR_007442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007442	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	204	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Lys369Glu	VAR_007442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007442	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	416	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Ala372Val	VAR_007443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007443	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	207	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Ala372Val	VAR_007443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007443	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	419	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Glu384Gly	VAR_007444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007444	- Pendred syndrome (PDS) [MIM:274600]	SWISS	220	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Glu384Gly	VAR_007444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007444	- Pendred syndrome (PDS) [MIM:274600]	SWISS	433	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Ser391Asn	VAR_021657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021657	- Pendred syndrome (PDS) [MIM:274600]	SWISS	227	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Ser391Asn	VAR_021657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021657	- Pendred syndrome (PDS) [MIM:274600]	SWISS	440	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Asn392Tyr	VAR_021658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021658	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	228	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Asn392Tyr	VAR_021658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021658	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	441	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Val402Met	VAR_058580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058580	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	238	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Val402Met	VAR_058580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058580	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	451	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Val402Met	VAR_058580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058580	- Pendred syndrome (PDS) [MIM:274600]	SWISS	238	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Val402Met	VAR_058580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058580	- Pendred syndrome (PDS) [MIM:274600]	SWISS	451	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Arg409His	VAR_021659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021659	- Pendred syndrome (PDS) [MIM:274600]	SWISS	245	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Arg409His	VAR_021659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021659	- Pendred syndrome (PDS) [MIM:274600]	SWISS	458	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Arg409Pro	VAR_021660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021660	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	245	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Arg409Pro	VAR_021660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021660	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	458	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Thr410Met	VAR_021661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021661	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	246	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Thr410Met	VAR_021661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021661	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	459	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Thr410Met	VAR_021661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021661	- Pendred syndrome (PDS) [MIM:274600]	SWISS	246	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Thr410Met	VAR_021661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021661	- Pendred syndrome (PDS) [MIM:274600]	SWISS	459	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Ala411Pro	VAR_021662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021662	- Pendred syndrome (PDS) [MIM:274600]	SWISS	247	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Ala411Pro	VAR_021662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021662	- Pendred syndrome (PDS) [MIM:274600]	SWISS	460	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Thr416Pro	VAR_007445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007445	rs28939086 Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	253	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Thr416Pro	VAR_007445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007445	rs28939086 Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	466	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Thr416Pro	VAR_007445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007445	rs28939086 Pendred syndrome (PDS) [MIM:274600]	SWISS	253	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Thr416Pro	VAR_007445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007445	rs28939086 Pendred syndrome (PDS) [MIM:274600]	SWISS	466	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Leu445Trp	VAR_011624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011624	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	282	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Leu445Trp	VAR_011624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011624	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	495	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Leu445Trp	VAR_011624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011624	- Pendred syndrome (PDS) [MIM:274600]	SWISS	282	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Leu445Trp	VAR_011624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011624	- Pendred syndrome (PDS) [MIM:274600]	SWISS	495	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Gln446Arg	VAR_021665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021665	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	283	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Gln446Arg	VAR_021665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021665	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	496	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Gln446Arg	VAR_021665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021665	- Pendred syndrome (PDS) [MIM:274600]	SWISS	283	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Gln446Arg	VAR_021665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021665	- Pendred syndrome (PDS) [MIM:274600]	SWISS	496	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Ile455Phe	VAR_021666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021666	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	292	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Ile455Phe	VAR_021666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021666	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	505	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Asn457Lys	VAR_021667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021667	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	294	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Asn457Lys	VAR_021667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021667	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	507	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Val480Asp	VAR_021668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021668	- Pendred syndrome (PDS) [MIM:274600]	SWISS	319	pfam00916	4505697,NP_000432
5172	6174895	Disease	p.Val480Asp	VAR_021668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021668	- Pendred syndrome (PDS) [MIM:274600]	SWISS	532	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Ile490Leu	VAR_021669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021669	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	542	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Gly497Ser	VAR_007446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007446	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	549	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Thr508Asn	VAR_027240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027240	- Pendred syndrome (PDS) [MIM:274600]	SWISS	560	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Gln514Arg	VAR_027241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027241	- Pendred syndrome (PDS) [MIM:274600]	SWISS	566	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Tyr530His	VAR_021670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021670	- Pendred syndrome (PDS) [MIM:274600]	SWISS	582	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Tyr530Ser	VAR_027242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027242	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	582	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Tyr530Ser	VAR_027242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027242	- Pendred syndrome (PDS) [MIM:274600]	SWISS	582	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Ser552Ile	VAR_021671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021671	- Pendred syndrome (PDS) [MIM:274600]	SWISS	17	cd07042	4505697,NP_000432
5172	6174895	Disease	p.Ser552Ile	VAR_021671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021671	- Pendred syndrome (PDS) [MIM:274600]	SWISS	21	pfam01740	4505697,NP_000432
5172	6174895	Disease	p.Ser552Ile	VAR_021671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021671	- Pendred syndrome (PDS) [MIM:274600]	SWISS	686	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Tyr556Cys	VAR_021672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021672	- Pendred syndrome (PDS) [MIM:274600]	SWISS	22	cd07042	4505697,NP_000432
5172	6174895	Disease	p.Tyr556Cys	VAR_021672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021672	- Pendred syndrome (PDS) [MIM:274600]	SWISS	26	pfam01740	4505697,NP_000432
5172	6174895	Disease	p.Tyr556Cys	VAR_021672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021672	- Pendred syndrome (PDS) [MIM:274600]	SWISS	690	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Tyr556His	VAR_021673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021673	- Pendred syndrome (PDS) [MIM:274600]	SWISS	22	cd07042	4505697,NP_000432
5172	6174895	Disease	p.Tyr556His	VAR_021673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021673	- Pendred syndrome (PDS) [MIM:274600]	SWISS	26	pfam01740	4505697,NP_000432
5172	6174895	Disease	p.Tyr556His	VAR_021673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021673	- Pendred syndrome (PDS) [MIM:274600]	SWISS	690	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Cys565Tyr	VAR_021674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021674	- Pendred syndrome (PDS) [MIM:274600]	SWISS	31	cd07042	4505697,NP_000432
5172	6174895	Disease	p.Cys565Tyr	VAR_021674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021674	- Pendred syndrome (PDS) [MIM:274600]	SWISS	35	pfam01740	4505697,NP_000432
5172	6174895	Disease	p.Cys565Tyr	VAR_021674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021674	- Pendred syndrome (PDS) [MIM:274600]	SWISS	703	COG0659	4505697,NP_000432
5172	6174895	Disease	p.Val653Ala	VAR_021676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021676	- Pendred syndrome (PDS) [MIM:274600]	SWISS	188	cd07042	4505697,NP_000432
5172	6174895	Disease	p.Val653Ala	VAR_021676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021676	- Pendred syndrome (PDS) [MIM:274600]	SWISS	124	pfam01740	4505697,NP_000432
5172	6174895	Disease	p.Ser666Phe	VAR_027244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027244	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	203	cd07042	4505697,NP_000432
5172	6174895	Disease	p.Ser666Phe	VAR_027244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027244	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	139	pfam01740	4505697,NP_000432
5172	6174895	Disease	p.Phe667Cys	VAR_007447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007447	- Pendred syndrome (PDS) [MIM:274600]	SWISS	204	cd07042	4505697,NP_000432
5172	6174895	Disease	p.Phe667Cys	VAR_007447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007447	- Pendred syndrome (PDS) [MIM:274600]	SWISS	140	pfam01740	4505697,NP_000432
5172	6174895	Disease	p.Gly672Glu	VAR_021677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021677	- Pendred syndrome (PDS) [MIM:274600]	SWISS	209	cd07042	4505697,NP_000432
5172	6174895	Disease	p.Gly672Glu	VAR_021677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021677	- Pendred syndrome (PDS) [MIM:274600]	SWISS	145	pfam01740	4505697,NP_000432
5172	6174895	Disease	p.Leu676Gln	VAR_021678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021678	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	213	cd07042	4505697,NP_000432
5172	6174895	Disease	p.Leu676Gln	VAR_021678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021678	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	149	pfam01740	4505697,NP_000432
5172	6174895	Disease	p.Ser694Pro	VAR_021680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021680	- Pendred syndrome (PDS) [MIM:274600]	SWISS	235	cd07042	4505697,NP_000432
5172	6174895	Disease	p.Ser694Pro	VAR_021680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021680	- Pendred syndrome (PDS) [MIM:274600]	SWISS	168	pfam01740	4505697,NP_000432
5172	6174895	Disease	p.Thr721Met	VAR_007448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007448	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	211	pfam01740	4505697,NP_000432
5172	6174895	Disease	p.Thr721Met	VAR_007448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007448	- Pendred syndrome (PDS) [MIM:274600]	SWISS	211	pfam01740	4505697,NP_000432
5172	6174895	Disease	p.His723Arg	VAR_007449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007449	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	213	pfam01740	4505697,NP_000432
5172	6174895	Disease	p.His723Arg	VAR_007449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007449	- Pendred syndrome (PDS) [MIM:274600]	SWISS	213	pfam01740	4505697,NP_000432
5172	6174895	Disease	p.Asp724Asn	VAR_021681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021681	- Pendred syndrome (PDS) [MIM:274600]	SWISS	214	pfam01740	4505697,NP_000432
5172	6174895	Disease	p.Met775Thr	VAR_058581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058581	- Deafness autosomal recessive type 4 (DFNB4) [MIM:600791]	SWISS	No Domain	N/A	4505697,NP_000432
5172	6174895	Disease	p.Met775Thr	VAR_058581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058581	- Pendred syndrome (PDS) [MIM:274600]	SWISS	No Domain	N/A	4505697,NP_000432
10999	74749065	Disease	p.Ala92Thr	VAR_063192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063192	- Ichthyosis prematurity syndrome (IPS) [MIM:608649]	SWISS	38	COG1022	40807357,NP_005085
10999	74749065	Disease	p.Ala92Thr	VAR_063192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063192	- Ichthyosis prematurity syndrome (IPS) [MIM:608649]	SWISS	35	COG0365	40807357,NP_005085
10999	74749065	Disease	p.Ala92Thr	VAR_063192	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063192	- Ichthyosis prematurity syndrome (IPS) [MIM:608649]	SWISS	29	COG0318	40807357,NP_005085
10999	74749065	Disease	p.Ser247Pro	VAR_063193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063193	- Ichthyosis prematurity syndrome (IPS) [MIM:608649]	SWISS	228	COG1022	40807357,NP_005085
10999	74749065	Disease	p.Ser247Pro	VAR_063193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063193	- Ichthyosis prematurity syndrome (IPS) [MIM:608649]	SWISS	242	pfam00501	40807357,NP_005085
10999	74749065	Disease	p.Ser247Pro	VAR_063193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063193	- Ichthyosis prematurity syndrome (IPS) [MIM:608649]	SWISS	228	COG0365	40807357,NP_005085
10999	74749065	Disease	p.Ser247Pro	VAR_063193	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063193	- Ichthyosis prematurity syndrome (IPS) [MIM:608649]	SWISS	328	COG0318	40807357,NP_005085
10999	74749065	Disease	p.Gln300Arg	VAR_063194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063194	- Ichthyosis prematurity syndrome (IPS) [MIM:608649]	SWISS	296	COG1022	40807357,NP_005085
10999	74749065	Disease	p.Gln300Arg	VAR_063194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063194	- Ichthyosis prematurity syndrome (IPS) [MIM:608649]	SWISS	318	pfam00501	40807357,NP_005085
10999	74749065	Disease	p.Gln300Arg	VAR_063194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063194	- Ichthyosis prematurity syndrome (IPS) [MIM:608649]	SWISS	287	COG0365	40807357,NP_005085
10999	74749065	Disease	p.Gln300Arg	VAR_063194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063194	- Ichthyosis prematurity syndrome (IPS) [MIM:608649]	SWISS	453	COG0318	40807357,NP_005085
10999	74749065	Disease	p.Arg583His	VAR_063195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063195	- Ichthyosis prematurity syndrome (IPS) [MIM:608649]	SWISS	677	COG1022	40807357,NP_005085
10999	74749065	Disease	p.Arg583His	VAR_063195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063195	- Ichthyosis prematurity syndrome (IPS) [MIM:608649]	SWISS	623	COG0365	40807357,NP_005085
10999	74749065	Disease	p.Arg583His	VAR_063195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063195	- Ichthyosis prematurity syndrome (IPS) [MIM:608649]	SWISS	1459	COG0318	40807357,NP_005085
55315	209572675	Disease	p.Gly427Ser	VAR_057884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057884	- H syndrome [MIM:612391]	SWISS	312	pfam01733	NULL
55315	209572675	Disease	p.Gly437Arg	VAR_057885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057885	- H syndrome [MIM:612391]	SWISS	322	pfam01733	NULL
6513	115502394	Disease	p.Asn34Ile	VAR_054755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054755	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	35	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Asn34Ile	VAR_054755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054755	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	19	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Asn34Ile	VAR_054755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054755	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	21	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Asn34Ser	VAR_054756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054756	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	35	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Asn34Ser	VAR_054756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054756	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	19	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Asn34Ser	VAR_054756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054756	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	21	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Ser66Phe	VAR_013283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013283	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	90	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Ser66Phe	VAR_013283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013283	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	59	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Ser66Phe	VAR_013283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013283	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	95	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Ser66Phe	VAR_013283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013283	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	114	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Gly91Asp	VAR_013182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013182	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	154	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Gly91Asp	VAR_013182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013182	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	174	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Gly91Asp	VAR_013182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013182	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	126	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Gly91Asp	VAR_013182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013182	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	139	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Arg126Cys	VAR_054757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054757	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	251	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Arg126Cys	VAR_054757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054757	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	230	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Arg126Cys	VAR_054757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054757	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	209	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Arg126Cys	VAR_054757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054757	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	191	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Arg126His	VAR_013183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013183	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	251	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Arg126His	VAR_013183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013183	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	230	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Arg126His	VAR_013183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013183	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	209	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Arg126His	VAR_013183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013183	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	191	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Arg126Leu	VAR_013184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013184	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	251	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Arg126Leu	VAR_013184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013184	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	230	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Arg126Leu	VAR_013184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013184	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	209	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Arg126Leu	VAR_013184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013184	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	191	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Gly130Ser	VAR_054758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054758	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	272	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Gly130Ser	VAR_054758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054758	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	237	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Gly130Ser	VAR_054758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054758	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	213	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Gly130Ser	VAR_054758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054758	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	195	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Glu146Lys	VAR_013284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013284	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	309	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Glu146Lys	VAR_013284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013284	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	254	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Glu146Lys	VAR_013284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013284	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	229	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Glu146Lys	VAR_013284	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013284	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	211	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Arg153Cys	VAR_054759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054759	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	329	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Arg153Cys	VAR_054759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054759	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	267	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Arg153Cys	VAR_054759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054759	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	255	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Arg153Cys	VAR_054759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054759	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	221	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Lys256Glu	VAR_013185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013185	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	560	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Lys256Glu	VAR_013185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013185	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	446	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Lys256Glu	VAR_013185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013185	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	478	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Lys256Glu	VAR_013185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013185	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	344	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Ala275Thr	VAR_054761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054761	- Dystonia type 18 (DYT18) [MIM:612126]	SWISS	634	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Ala275Thr	VAR_054761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054761	- Dystonia type 18 (DYT18) [MIM:612126]	SWISS	500	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Ala275Thr	VAR_054761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054761	- Dystonia type 18 (DYT18) [MIM:612126]	SWISS	497	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Ala275Thr	VAR_054761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054761	- Dystonia type 18 (DYT18) [MIM:612126]	SWISS	371	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Thr295Met	VAR_054763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054763	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	681	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Thr295Met	VAR_054763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054763	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	525	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Thr295Met	VAR_054763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054763	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	517	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Thr295Met	VAR_054763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054763	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	391	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Thr310Ile	VAR_013285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013285	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	738	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Thr310Ile	VAR_013285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013285	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	568	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Thr310Ile	VAR_013285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013285	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	561	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Thr310Ile	VAR_013285	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013285	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	409	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Gly314Ser	VAR_054764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054764	- Dystonia type 18 (DYT18) [MIM:612126]	SWISS	742	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Gly314Ser	VAR_054764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054764	- Dystonia type 18 (DYT18) [MIM:612126]	SWISS	574	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Gly314Ser	VAR_054764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054764	- Dystonia type 18 (DYT18) [MIM:612126]	SWISS	565	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Gly314Ser	VAR_054764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054764	- Dystonia type 18 (DYT18) [MIM:612126]	SWISS	413	pfam00083	166795299,NP_006507
6513	115502394	Disease	p.Arg333Trp	VAR_013286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013286	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	801	COG0477	166795299,NP_006507
6513	115502394	Disease	p.Arg333Trp	VAR_013286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013286	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	614	pfam07690	166795299,NP_006507
6513	115502394	Disease	p.Arg333Trp	VAR_013286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013286	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	598	cd06174	166795299,NP_006507
6513	115502394	Disease	p.Arg333Trp	VAR_013286	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013286	- Glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]	SWISS	437	pfam00083	166795299,NP_006507
81031	17366247	Disease	p.Ser81Arg	VAR_029535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029535	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	84	COG2814	13540547,NP_110404
81031	17366247	Disease	p.Ser81Arg	VAR_029535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029535	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	172	COG0477	13540547,NP_110404
81031	17366247	Disease	p.Ser81Arg	VAR_029535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029535	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	149	pfam00083	13540547,NP_110404
81031	17366247	Disease	p.Ser81Arg	VAR_029535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029535	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	147	cd06174	13540547,NP_110404
81031	17366247	Disease	p.Ser81Arg	VAR_029535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029535	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	185	pfam07690	13540547,NP_110404
81031	17366247	Disease	p.Arg132Trp	VAR_042417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042417	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	135	COG2814	13540547,NP_110404
81031	17366247	Disease	p.Arg132Trp	VAR_042417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042417	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	329	COG0477	13540547,NP_110404
81031	17366247	Disease	p.Arg132Trp	VAR_042417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042417	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	221	pfam00083	13540547,NP_110404
81031	17366247	Disease	p.Arg132Trp	VAR_042417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042417	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	255	cd06174	13540547,NP_110404
81031	17366247	Disease	p.Arg132Trp	VAR_042417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042417	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	267	pfam07690	13540547,NP_110404
81031	17366247	Disease	p.Gly142Val	VAR_042418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042418	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	145	COG2814	13540547,NP_110404
81031	17366247	Disease	p.Gly142Val	VAR_042418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042418	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	344	COG0477	13540547,NP_110404
81031	17366247	Disease	p.Gly142Val	VAR_042418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042418	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	232	pfam00083	13540547,NP_110404
81031	17366247	Disease	p.Gly142Val	VAR_042418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042418	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	265	cd06174	13540547,NP_110404
81031	17366247	Disease	p.Gly142Val	VAR_042418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042418	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	282	pfam07690	13540547,NP_110404
81031	17366247	Disease	p.Arg231Gln	VAR_042420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042420	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	253	COG2814	13540547,NP_110404
81031	17366247	Disease	p.Arg231Gln	VAR_042420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042420	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	630	COG0477	13540547,NP_110404
81031	17366247	Disease	p.Arg231Gln	VAR_042420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042420	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	367	pfam00083	13540547,NP_110404
81031	17366247	Disease	p.Arg231Gln	VAR_042420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042420	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	493	cd06174	13540547,NP_110404
81031	17366247	Disease	p.Arg231Gln	VAR_042420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042420	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	496	pfam07690	13540547,NP_110404
81031	17366247	Disease	p.Gly246Glu	VAR_042421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042421	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	284	COG2814	13540547,NP_110404
81031	17366247	Disease	p.Gly246Glu	VAR_042421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042421	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	645	COG0477	13540547,NP_110404
81031	17366247	Disease	p.Gly246Glu	VAR_042421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042421	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	382	pfam00083	13540547,NP_110404
81031	17366247	Disease	p.Gly246Glu	VAR_042421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042421	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	508	cd06174	13540547,NP_110404
81031	17366247	Disease	p.Gly246Glu	VAR_042421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042421	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	511	pfam07690	13540547,NP_110404
81031	17366247	Disease	p.Gly426Trp	VAR_042422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042422	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	511	pfam00083	13540547,NP_110404
81031	17366247	Disease	p.Gly426Trp	VAR_042422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042422	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	765	cd06174	13540547,NP_110404
81031	17366247	Disease	p.Glu437Lys	VAR_042423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042423	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	522	pfam00083	13540547,NP_110404
81031	17366247	Disease	p.Glu437Lys	VAR_042423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042423	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	776	cd06174	13540547,NP_110404
81031	17366247	Disease	p.Gly445Glu	VAR_042424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042424	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	530	pfam00083	13540547,NP_110404
81031	17366247	Disease	p.Gly445Glu	VAR_042424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042424	- Arterial tortuosity syndrome (ATS) [MIM:208050]	SWISS	798	cd06174	13540547,NP_110404
6514	121756	Disease	p.Leu389Pro	VAR_018651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018651	- Fanconi-Bickel syndrome (FBS) [MIM:227810]	SWISS	637	pfam07690	4557851,NP_000331
6514	121756	Disease	p.Leu389Pro	VAR_018651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018651	- Fanconi-Bickel syndrome (FBS) [MIM:227810]	SWISS	680	COG0477	4557851,NP_000331
6514	121756	Disease	p.Leu389Pro	VAR_018651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018651	- Fanconi-Bickel syndrome (FBS) [MIM:227810]	SWISS	479	pfam00083	4557851,NP_000331
6514	121756	Disease	p.Leu389Pro	VAR_018651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018651	- Fanconi-Bickel syndrome (FBS) [MIM:227810]	SWISS	652	cd06174	4557851,NP_000331
6514	121756	Disease	p.Pro417Leu	VAR_018652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018652	- Fanconi-Bickel syndrome (FBS) [MIM:227810]	SWISS	696	pfam07690	4557851,NP_000331
6514	121756	Disease	p.Pro417Leu	VAR_018652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018652	- Fanconi-Bickel syndrome (FBS) [MIM:227810]	SWISS	730	COG0477	4557851,NP_000331
6514	121756	Disease	p.Pro417Leu	VAR_018652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018652	- Fanconi-Bickel syndrome (FBS) [MIM:227810]	SWISS	514	pfam00083	4557851,NP_000331
6514	121756	Disease	p.Pro417Leu	VAR_018652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018652	- Fanconi-Bickel syndrome (FBS) [MIM:227810]	SWISS	771	cd06174	4557851,NP_000331
6514	121756	Disease	p.Val423Glu	VAR_018653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018653	rs28928874 Fanconi-Bickel syndrome (FBS) [MIM:227810]	SWISS	702	pfam07690	4557851,NP_000331
6514	121756	Disease	p.Val423Glu	VAR_018653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018653	rs28928874 Fanconi-Bickel syndrome (FBS) [MIM:227810]	SWISS	736	COG0477	4557851,NP_000331
6514	121756	Disease	p.Val423Glu	VAR_018653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018653	rs28928874 Fanconi-Bickel syndrome (FBS) [MIM:227810]	SWISS	520	pfam00083	4557851,NP_000331
6514	121756	Disease	p.Val423Glu	VAR_018653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018653	rs28928874 Fanconi-Bickel syndrome (FBS) [MIM:227810]	SWISS	777	cd06174	4557851,NP_000331
6517	121761	Disease	p.Val383Ile	VAR_007170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007170	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	753	cd06174	NULL
6517	121761	Disease	p.Val383Ile	VAR_007170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007170	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	738	COG0477	NULL
6517	121761	Disease	p.Val383Ile	VAR_007170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007170	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	313	COG2814	NULL
6517	121761	Disease	p.Val383Ile	VAR_007170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007170	- Noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]	SWISS	496	pfam00083	NULL
9197	74735319	Disease	p.Ser113Arg	VAR_054850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054850	- Spastic paraplegia autosomal dominant type 42 (SPG42) [MIM:612539]	SWISS	No Domain	N/A	300360496,NP_001177921|4757708,NP_004724
6569	730113	Disease	p.Ala48Phe	VAR_024765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024765	- Hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1) [MIM:612286]	SWISS	No Domain	N/A	156627569,NP_003043
6569	730113	Disease	p.Val147Met	VAR_024766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024766	- Hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1) [MIM:612286]	SWISS	48	COG1283	156627569,NP_003043
6569	730113	Disease	p.Val147Met	VAR_024766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024766	- Hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1) [MIM:612286]	SWISS	57	pfam02690	156627569,NP_003043
10568	84029372	Disease	p.Gly106Arg	VAR_030677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030677	- Pulmonary alveolar microlithiasis [MIM:265100]	SWISS	No Domain	N/A	110611906,NP_006415
142680	74728483	Disease	p.Ser138Phe	VAR_025707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025707	- Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]	SWISS	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Ser192Leu	VAR_025709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025709	- Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]	SWISS	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Gly196Arg	VAR_025710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025710	- Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]	SWISS	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Arg353Leu	VAR_025713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025713	- Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]	SWISS	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Ala413Glu	VAR_025714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025714	- Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]	SWISS	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
142680	74728483	Disease	p.Arg468Trp	VAR_025715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025715	- Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]	SWISS	No Domain	N/A	293597523,NP_001170787|293597525,NP_001170788|25014088,NP_543153
55343	20138280	Disease	p.Arg147Cys	VAR_012347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012347	rs28939087 Congenital disorder of glycosylation type 2C (CDG2C) [MIM:266265]	SWISS	174	COG0697	223671915,NP_060859
55343	20138280	Disease	p.Arg147Cys	VAR_012347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012347	rs28939087 Congenital disorder of glycosylation type 2C (CDG2C) [MIM:266265]	SWISS	121	pfam08449	223671915,NP_060859
55343	20138280	Disease	p.Thr308Arg	VAR_012348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012348	rs28937886 Congenital disorder of glycosylation type 2C (CDG2C) [MIM:266265]	SWISS	419	COG0697	223671915,NP_060859
55343	20138280	Disease	p.Thr308Arg	VAR_012348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012348	rs28937886 Congenital disorder of glycosylation type 2C (CDG2C) [MIM:266265]	SWISS	177	pfam03151	223671915,NP_060859
55343	20138280	Disease	p.Thr308Arg	VAR_012348	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012348	rs28937886 Congenital disorder of glycosylation type 2C (CDG2C) [MIM:266265]	SWISS	348	pfam08449	223671915,NP_060859
2542	3913718	Disease	p.Gly20Asp	VAR_025581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025581	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	21	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly20Asp	VAR_025581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025581	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	26	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly20Asp	VAR_025581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025581	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	37	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly20Asp	VAR_025581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025581	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	15	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly20Asp	VAR_025581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025581	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	4	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly20Asp	VAR_025581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025581	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	9	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly20Asp	VAR_025581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025581	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	7	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Tyr24His	VAR_025582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025582	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	25	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Tyr24His	VAR_025582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025582	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	30	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Tyr24His	VAR_025582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025582	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	41	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Tyr24His	VAR_025582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025582	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	19	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Tyr24His	VAR_025582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025582	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	8	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Tyr24His	VAR_025582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025582	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	13	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Tyr24His	VAR_025582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025582	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	11	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Asn27Lys	VAR_025583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025583	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	26_G	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Asn27Lys	VAR_025583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025583	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	32_G	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Asn27Lys	VAR_025583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025583	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	44	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Asn27Lys	VAR_025583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025583	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	30	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Asn27Lys	VAR_025583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025583	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	11	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Asn27Lys	VAR_025583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025583	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	16	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Asn27Lys	VAR_025583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025583	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	14	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28Cys	VAR_025584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025584	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	26_G	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28Cys	VAR_025584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025584	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	32_G	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28Cys	VAR_025584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025584	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	45	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28Cys	VAR_025584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025584	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	31	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28Cys	VAR_025584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025584	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	12	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28Cys	VAR_025584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025584	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	17	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28Cys	VAR_025584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025584	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	15	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	VAR_016840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016840	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	26_G	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	VAR_016840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016840	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	32_G	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	VAR_016840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016840	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	45	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	VAR_016840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016840	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	31	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	VAR_016840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016840	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	12	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	VAR_016840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016840	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	17	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg28His	VAR_016840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016840	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	15	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly50Arg	VAR_025585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025585	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	51	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly50Arg	VAR_025585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025585	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	61	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly50Arg	VAR_025585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025585	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	69	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly50Arg	VAR_025585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025585	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	90	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly50Arg	VAR_025585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025585	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	124	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly50Arg	VAR_025585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025585	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	114	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly50Arg	VAR_025585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025585	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	95	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ser54Arg	VAR_025586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025586	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	55	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ser54Arg	VAR_025586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025586	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	65	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ser54Arg	VAR_025586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025586	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	73	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ser54Arg	VAR_025586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025586	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	94	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ser54Arg	VAR_025586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025586	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	132	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ser54Arg	VAR_025586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025586	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	118	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ser54Arg	VAR_025586	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025586	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	99	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ser55Arg	VAR_025587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025587	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	56	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ser55Arg	VAR_025587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025587	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	66	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ser55Arg	VAR_025587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025587	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	74	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ser55Arg	VAR_025587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025587	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	95	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ser55Arg	VAR_025587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025587	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	133	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ser55Arg	VAR_025587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025587	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	119	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ser55Arg	VAR_025587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025587	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	100	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly68Arg	VAR_025588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025588	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	69	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly68Arg	VAR_025588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025588	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	79	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly68Arg	VAR_025588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025588	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	87	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly68Arg	VAR_025588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025588	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	119	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly68Arg	VAR_025588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025588	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	155	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly68Arg	VAR_025588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025588	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	132	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly68Arg	VAR_025588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025588	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	113	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Leu85Pro	VAR_025589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025589	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	86	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Leu85Pro	VAR_025589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025589	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	96	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Leu85Pro	VAR_025589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025589	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	104	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Leu85Pro	VAR_025589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025589	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	174	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Leu85Pro	VAR_025589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025589	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	187	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Leu85Pro	VAR_025589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025589	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	151	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Leu85Pro	VAR_025589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025589	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	149	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly88Asp	VAR_025590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025590	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	89	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly88Asp	VAR_025590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025590	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	99	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly88Asp	VAR_025590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025590	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	107	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly88Asp	VAR_025590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025590	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	191	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly88Asp	VAR_025590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025590	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	190	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly88Asp	VAR_025590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025590	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	154	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly88Asp	VAR_025590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025590	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	152	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	VAR_007850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007850	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	119	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	VAR_007850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007850	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	137	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	VAR_007850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007850	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	142	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	VAR_007850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007850	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	300	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	VAR_007850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007850	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	245	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	VAR_007850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007850	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	202	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Trp118Arg	VAR_007850	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007850	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	220	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gln133Pro	VAR_025591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025591	- Glycogen storage disease type 1C (GSD1C) [MIM:232240]	SWISS	134	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gln133Pro	VAR_025591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025591	- Glycogen storage disease type 1C (GSD1C) [MIM:232240]	SWISS	148	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gln133Pro	VAR_025591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025591	- Glycogen storage disease type 1C (GSD1C) [MIM:232240]	SWISS	157	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gln133Pro	VAR_025591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025591	- Glycogen storage disease type 1C (GSD1C) [MIM:232240]	SWISS	328	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gln133Pro	VAR_025591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025591	- Glycogen storage disease type 1C (GSD1C) [MIM:232240]	SWISS	266	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gln133Pro	VAR_025591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025591	- Glycogen storage disease type 1C (GSD1C) [MIM:232240]	SWISS	220	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gln133Pro	VAR_025591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025591	- Glycogen storage disease type 1C (GSD1C) [MIM:232240]	SWISS	254	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly149Glu	VAR_003184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003184	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	150	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly149Glu	VAR_003184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003184	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	168	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly149Glu	VAR_003184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003184	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	179	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly149Glu	VAR_003184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003184	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	349	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly149Glu	VAR_003184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003184	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	287	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly149Glu	VAR_003184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003184	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	238	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly149Glu	VAR_003184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003184	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	270	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly150Arg	VAR_025592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025592	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	151	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly150Arg	VAR_025592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025592	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	169	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly150Arg	VAR_025592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025592	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	180	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly150Arg	VAR_025592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025592	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	350	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly150Arg	VAR_025592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025592	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	289	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly150Arg	VAR_025592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025592	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	239	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly150Arg	VAR_025592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025592	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	271	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Pro153Leu	VAR_025593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025593	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	154	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Pro153Leu	VAR_025593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025593	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	172	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Pro153Leu	VAR_025593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025593	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	183	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Pro153Leu	VAR_025593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025593	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	353	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Pro153Leu	VAR_025593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025593	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	293	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Pro153Leu	VAR_025593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025593	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	242	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Pro153Leu	VAR_025593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025593	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	274	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Cys176Arg	VAR_025594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025594	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	177	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Cys176Arg	VAR_025594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025594	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	263	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Cys176Arg	VAR_025594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025594	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	228	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Cys176Arg	VAR_025594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025594	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	413	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Cys176Arg	VAR_025594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025594	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	337	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Cys176Arg	VAR_025594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025594	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	276	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Cys176Arg	VAR_025594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025594	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	340	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Cys183Arg	VAR_025595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025595	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	184	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Cys183Arg	VAR_025595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025595	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	270	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Cys183Arg	VAR_025595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025595	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	235	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Cys183Arg	VAR_025595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025595	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	445	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Cys183Arg	VAR_025595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025595	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	347	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Cys183Arg	VAR_025595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025595	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	283	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Cys183Arg	VAR_025595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025595	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	347	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Pro191Leu	VAR_032113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032113	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	187_G	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Pro191Leu	VAR_032113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032113	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	278	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Pro191Leu	VAR_032113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032113	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	243	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Pro191Leu	VAR_032113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032113	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	459	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Pro191Leu	VAR_032113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032113	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	387	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Pro191Leu	VAR_032113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032113	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	304	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Pro191Leu	VAR_032113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032113	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	355	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Asn198Ile	VAR_025596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025596	rs34203644 Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	190	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Asn198Ile	VAR_025596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025596	rs34203644 Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	284	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Asn198Ile	VAR_025596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025596	rs34203644 Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	250	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Asn198Ile	VAR_025596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025596	rs34203644 Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	466	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Asn198Ile	VAR_025596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025596	rs34203644 Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	394	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Asn198Ile	VAR_025596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025596	rs34203644 Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	311	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Asn198Ile	VAR_025596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025596	rs34203644 Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	362	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Leu229Pro	VAR_025597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025597	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	223	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Leu229Pro	VAR_025597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025597	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	315	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Leu229Pro	VAR_025597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025597	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	302	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Leu229Pro	VAR_025597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025597	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	497	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Leu229Pro	VAR_025597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025597	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	501	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Leu229Pro	VAR_025597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025597	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	368	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Leu229Pro	VAR_025597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025597	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	498	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ile278Asn	VAR_025598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025598	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	273	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ile278Asn	VAR_025598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025598	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	372	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ile278Asn	VAR_025598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025598	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	352	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ile278Asn	VAR_025598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025598	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	642	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ile278Asn	VAR_025598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025598	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	588	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ile278Asn	VAR_025598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025598	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	421	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ile278Asn	VAR_025598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025598	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	573	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg300His	VAR_025599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025599	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	288_G	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg300His	VAR_025599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025599	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	387	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg300His	VAR_025599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025599	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	370_G	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg300His	VAR_025599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025599	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	679	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg300His	VAR_025599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025599	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	614	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg300His	VAR_025599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025599	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	454	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Arg300His	VAR_025599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025599	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	628	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.His301Pro	VAR_025600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025600	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	288_G	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.His301Pro	VAR_025600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025600	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	388	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.His301Pro	VAR_025600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025600	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	370_G	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.His301Pro	VAR_025600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025600	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	680	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.His301Pro	VAR_025600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025600	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	615	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.His301Pro	VAR_025600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025600	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	455	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.His301Pro	VAR_025600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025600	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	629	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	VAR_003185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003185	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	333	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	VAR_003185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003185	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	443	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	VAR_003185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003185	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	420	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	VAR_003185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003185	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	742	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	VAR_003185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003185	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	683	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	VAR_003185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003185	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	507	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Cys	VAR_003185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003185	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	760	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	VAR_025601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025601	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	333	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	VAR_025601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025601	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	443	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	VAR_025601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025601	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	420	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	VAR_025601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025601	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	742	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	VAR_025601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025601	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	683	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	VAR_025601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025601	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	507	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly339Asp	VAR_025601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025601	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	760	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ala367Thr	VAR_025602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025602	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	362	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ala367Thr	VAR_025602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025602	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	492	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ala367Thr	VAR_025602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025602	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	449	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ala367Thr	VAR_025602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025602	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	801	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ala367Thr	VAR_025602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025602	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	734	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ala367Thr	VAR_025602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025602	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	534	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ala367Thr	VAR_025602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025602	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	802	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ala373Asp	VAR_025603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025603	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	367_G	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ala373Asp	VAR_025603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025603	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	498	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ala373Asp	VAR_025603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025603	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	455	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ala373Asp	VAR_025603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025603	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	807	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ala373Asp	VAR_025603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025603	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	741	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ala373Asp	VAR_025603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025603	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	540	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Ala373Asp	VAR_025603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025603	- Glycogen storage disease type 1B (GSD1B) [MIM:232220]	SWISS	808	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly376Ser	VAR_025604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025604	- Glycogen storage disease type 1C (GSD1C) [MIM:232240]	SWISS	370	COG2814	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly376Ser	VAR_025604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025604	- Glycogen storage disease type 1C (GSD1C) [MIM:232240]	SWISS	501	COG2223	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly376Ser	VAR_025604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025604	- Glycogen storage disease type 1C (GSD1C) [MIM:232240]	SWISS	459	COG2271	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly376Ser	VAR_025604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025604	- Glycogen storage disease type 1C (GSD1C) [MIM:232240]	SWISS	810	COG0477	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly376Ser	VAR_025604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025604	- Glycogen storage disease type 1C (GSD1C) [MIM:232240]	SWISS	745	pfam07690	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly376Ser	VAR_025604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025604	- Glycogen storage disease type 1C (GSD1C) [MIM:232240]	SWISS	545	pfam00083	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
2542	3913718	Disease	p.Gly376Ser	VAR_025604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025604	- Glycogen storage disease type 1C (GSD1C) [MIM:232240]	SWISS	811	cd06174	256219598,NP_001157752|256219483,NP_001157749|4503847,NP_001458
55630	296452970	Disease	p.Pro84Leu	VAR_023628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023628	- Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	SWISS	No Domain	N/A	115430255,NP_570901
55630	296452970	Disease	p.Arg95Cys	VAR_023629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023629	- Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	SWISS	No Domain	N/A	115430255,NP_570901
55630	296452970	Disease	p.Asn106Lys	VAR_023630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023630	- Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	SWISS	No Domain	N/A	115430255,NP_570901
55630	296452970	Disease	p.Pro200Leu	VAR_023632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023632	- Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	SWISS	No Domain	N/A	115430255,NP_570901
55630	296452970	Disease	p.Arg251Trp	VAR_023633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023633	rs2977838 Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	SWISS	No Domain	N/A	115430255,NP_570901
55630	296452970	Disease	p.Gln303His	VAR_023634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023634	- Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	SWISS	No Domain	N/A	115430255,NP_570901
55630	296452970	Disease	p.Cys309Tyr	VAR_023635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023635	- Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	SWISS	No Domain	N/A	115430255,NP_570901
55630	296452970	Disease	p.Gly330Asp	VAR_023636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023636	- Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	SWISS	8	pfam02535	115430255,NP_570901
55630	296452970	Disease	p.Gly330Asp	VAR_023636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023636	- Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	SWISS	10	COG0428	115430255,NP_570901
55630	296452970	Disease	p.Leu372Pro	VAR_023638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023638	- Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	SWISS	77	pfam02535	115430255,NP_570901
55630	296452970	Disease	p.Leu372Pro	VAR_023638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023638	- Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	SWISS	77	COG0428	115430255,NP_570901
55630	296452970	Disease	p.Gly374Arg	VAR_023639	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023639	- Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	SWISS	79	pfam02535	115430255,NP_570901
55630	296452970	Disease	p.Gly374Arg	VAR_023639	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023639	- Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	SWISS	77_G	COG0428	115430255,NP_570901
55630	296452970	Disease	p.Leu410Pro	VAR_023640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023640	- Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	SWISS	156	pfam02535	115430255,NP_570901
55630	296452970	Disease	p.Leu410Pro	VAR_023640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023640	- Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	SWISS	152	COG0428	115430255,NP_570901
55630	296452970	Disease	p.Gly526Arg	VAR_023641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023641	- Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	SWISS	442	pfam02535	115430255,NP_570901
55630	296452970	Disease	p.Gly526Arg	VAR_023641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023641	- Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	SWISS	319	COG0428	115430255,NP_570901
55630	296452970	Disease	p.Gly630Arg	VAR_023642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023642	- Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	SWISS	586	pfam02535	115430255,NP_570901
55630	296452970	Disease	p.Gly630Arg	VAR_023642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023642	- Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]	SWISS	445	COG0428	115430255,NP_570901
6519	67472674	Disease	p.Pro128Gln	VAR_011420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011420	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	4	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Pro128Gln	VAR_011420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011420	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	8	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Tyr151Cys	VAR_038200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038200	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	74	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Tyr151Cys	VAR_038200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038200	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	14	pfam00128	187423904,NP_000332
6519	67472674	Disease	p.Tyr151Cys	VAR_038200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038200	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	80	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Arg181Gln	VAR_011421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011421	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	126	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Arg181Gln	VAR_011421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011421	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	66	pfam00128	187423904,NP_000332
6519	67472674	Disease	p.Arg181Gln	VAR_011421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011421	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	132	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Thr216Met	VAR_022600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022600	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	170	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Thr216Met	VAR_022600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022600	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	103	pfam00128	187423904,NP_000332
6519	67472674	Disease	p.Thr216Met	VAR_022600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022600	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	185	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Asn253Lys	VAR_038201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038201	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	293	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Asn253Lys	VAR_038201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038201	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	160	pfam00128	187423904,NP_000332
6519	67472674	Disease	p.Asn253Lys	VAR_038201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038201	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	232	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Glu268Lys	VAR_011422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011422	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	308	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Glu268Lys	VAR_011422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011422	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	187	pfam00128	187423904,NP_000332
6519	67472674	Disease	p.Glu268Lys	VAR_011422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011422	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	264	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Thr341Ala	VAR_011423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011423	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	430	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Thr341Ala	VAR_011423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011423	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	284	pfam00128	187423904,NP_000332
6519	67472674	Disease	p.Thr341Ala	VAR_011423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011423	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	369	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Arg362Cys	VAR_022601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022601	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	451	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Arg362Cys	VAR_022601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022601	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	308	pfam00128	187423904,NP_000332
6519	67472674	Disease	p.Arg362Cys	VAR_022601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022601	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	390	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Arg362His	VAR_038202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038202	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	451	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Arg362His	VAR_038202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038202	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	308	pfam00128	187423904,NP_000332
6519	67472674	Disease	p.Arg362His	VAR_038202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038202	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	390	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Arg365Trp	VAR_011424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011424	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	459	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Arg365Trp	VAR_011424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011424	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	311	pfam00128	187423904,NP_000332
6519	67472674	Disease	p.Arg365Trp	VAR_011424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011424	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	393	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Gly398Arg	VAR_038203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038203	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	492	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Gly398Arg	VAR_038203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038203	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	349	pfam00128	187423904,NP_000332
6519	67472674	Disease	p.Gly398Arg	VAR_038203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038203	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	432	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Arg452Trp	VAR_011425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011425	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	578	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Arg452Trp	VAR_011425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011425	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	408	pfam00128	187423904,NP_000332
6519	67472674	Disease	p.Arg452Trp	VAR_011425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011425	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	535	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Tyr461His	VAR_011426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011426	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	613	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Tyr461His	VAR_011426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011426	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	424	pfam00128	187423904,NP_000332
6519	67472674	Disease	p.Tyr461His	VAR_011426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011426	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	561	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Met467Lys	VAR_011428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011428	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	619	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Met467Lys	VAR_011428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011428	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	447	pfam00128	187423904,NP_000332
6519	67472674	Disease	p.Met467Lys	VAR_011428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011428	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	567	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Met467Thr	VAR_011427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011427	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	619	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Met467Thr	VAR_011427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011427	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	447	pfam00128	187423904,NP_000332
6519	67472674	Disease	p.Met467Thr	VAR_011427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011427	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	567	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Gly481Val	VAR_038204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038204	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	633	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Gly481Val	VAR_038204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038204	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	462	pfam00128	187423904,NP_000332
6519	67472674	Disease	p.Gly481Val	VAR_038204	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038204	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	581	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Glu482Lys	VAR_038205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038205	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	634	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Glu482Lys	VAR_038205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038205	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	463	pfam00128	187423904,NP_000332
6519	67472674	Disease	p.Glu482Lys	VAR_038205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038205	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	582	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Pro508Ala	VAR_022602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022602	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	681	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Pro508Ala	VAR_022602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022602	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	643	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Gln510Arg	VAR_038206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038206	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	683	smart00642	187423904,NP_000332
6519	67472674	Disease	p.Gln510Arg	VAR_038206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038206	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	645	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Tyr582His	VAR_011429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011429	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	750	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Arg584Thr	VAR_038207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038207	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	752	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Phe599Ser	VAR_038208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038208	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	789	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Gly600Glu	VAR_038209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038209	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	790	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Pro615Thr	VAR_011430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011430	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	823	COG0366	187423904,NP_000332
6519	67472674	Disease	p.Phe648Ser	VAR_011432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011432	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	No Domain	N/A	187423904,NP_000332
6519	67472674	Disease	p.Thr652Arg	VAR_011433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011433	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	No Domain	N/A	187423904,NP_000332
6519	67472674	Disease	p.Leu678Pro	VAR_011434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011434	- Cystinuria type 1 (CSNU1) [MIM:220100]	SWISS	No Domain	N/A	187423904,NP_000332
30061	48428687	Disease	p.Tyr64Asn	VAR_030057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030057	- Hemochromatosis type 4 (HFE4) [MIM:606069]	SWISS	43	pfam06963	7657100,NP_055400
30061	48428687	Disease	p.Ala77Asp	VAR_022594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022594	- Hemochromatosis type 4 (HFE4) [MIM:606069]	SWISS	56	pfam06963	7657100,NP_055400
30061	48428687	Disease	p.Gly80Val	VAR_030059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030059	- Hemochromatosis type 4 (HFE4) [MIM:606069]	SWISS	59	pfam06963	7657100,NP_055400
30061	48428687	Disease	p.Asn144Asp	VAR_030060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030060	- Hemochromatosis type 4 (HFE4) [MIM:606069]	SWISS	136	pfam06963	7657100,NP_055400
30061	48428687	Disease	p.Asn144His	VAR_022595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022595	- Hemochromatosis type 4 (HFE4) [MIM:606069]	SWISS	136	pfam06963	7657100,NP_055400
30061	48428687	Disease	p.Asn144Thr	VAR_030061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030061	- Hemochromatosis type 4 (HFE4) [MIM:606069]	SWISS	136	pfam06963	7657100,NP_055400
30061	48428687	Disease	p.Asp157Gly	VAR_022596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022596	- Hemochromatosis type 4 (HFE4) [MIM:606069]	SWISS	149	pfam06963	7657100,NP_055400
30061	48428687	Disease	p.Asp181Val	VAR_030063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030063	- Hemochromatosis type 4 (HFE4) [MIM:606069]	SWISS	175	pfam06963	7657100,NP_055400
30061	48428687	Disease	p.Gln182His	VAR_022598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022598	- Hemochromatosis type 4 (HFE4) [MIM:606069]	SWISS	176	pfam06963	7657100,NP_055400
30061	48428687	Disease	p.Gly267Asp	VAR_030064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030064	- Hemochromatosis type 4 (HFE4) [MIM:606069]	SWISS	279	pfam06963	7657100,NP_055400
30061	48428687	Disease	p.Asp270Val	VAR_030065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030065	- Hemochromatosis type 4 (HFE4) [MIM:606069]	SWISS	282	pfam06963	7657100,NP_055400
30061	48428687	Disease	p.Gly323Val	VAR_022599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022599	- Hemochromatosis type 4 (HFE4) [MIM:606069]	SWISS	338	pfam06963	7657100,NP_055400
51151	145572854	Disease	p.Pro58Ala	VAR_022710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022710	- Albinism oculocutaneous type 4 (OCA4) [MIM:606574]	SWISS	24	cd06174	NULL
51151	145572854	Disease	p.Pro58Ser	VAR_022711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022711	- Albinism oculocutaneous type 4 (OCA4) [MIM:606574]	SWISS	24	cd06174	NULL
51151	145572854	Disease	p.Asp157Asn	VAR_022712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022712	- Albinism oculocutaneous type 4 (OCA4) [MIM:606574]	SWISS	217	cd06174	NULL
51151	145572854	Disease	p.Gly188Val	VAR_022713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022713	- Albinism oculocutaneous type 4 (OCA4) [MIM:606574]	SWISS	267	cd06174	NULL
51151	145572854	Disease	p.Trp202Cys	VAR_022714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022714	- Albinism oculocutaneous type 4 (OCA4) [MIM:606574]	SWISS	281	cd06174	NULL
51151	145572854	Disease	p.Tyr317Cys	VAR_022717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022717	- Albinism oculocutaneous type 4 (OCA4) [MIM:606574]	SWISS	495	cd06174	NULL
51151	145572854	Disease	p.Leu361Pro	VAR_022718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022718	rs28939380 Albinism oculocutaneous type 4 (OCA4) [MIM:606574]	SWISS	548	cd06174	NULL
51151	145572854	Disease	p.Ala477Thr	VAR_022719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022719	- Albinism oculocutaneous type 4 (OCA4) [MIM:606574]	SWISS	802	cd06174	NULL
51151	145572854	Disease	p.Ala486Val	VAR_022720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022720	- Albinism oculocutaneous type 4 (OCA4) [MIM:606574]	SWISS	811	cd06174	NULL
113235	74732636	Disease	p.Arg113Cys	VAR_058210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058210	- Hereditary folate malabsorption (HFM) [MIM:229050]	SWISS	177	pfam07690	31543204,NP_542400
113235	74732636	Disease	p.Arg113Cys	VAR_058210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058210	- Hereditary folate malabsorption (HFM) [MIM:229050]	SWISS	127	cd06174	31543204,NP_542400
113235	74732636	Disease	p.Arg113Cys	VAR_058210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058210	- Hereditary folate malabsorption (HFM) [MIM:229050]	SWISS	77	COG2814	31543204,NP_542400
113235	74732636	Disease	p.Arg113Ser	VAR_032825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032825	- Hereditary folate malabsorption (HFM) [MIM:229050]	SWISS	177	pfam07690	31543204,NP_542400
113235	74732636	Disease	p.Arg113Ser	VAR_032825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032825	- Hereditary folate malabsorption (HFM) [MIM:229050]	SWISS	127	cd06174	31543204,NP_542400
113235	74732636	Disease	p.Arg113Ser	VAR_032825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032825	- Hereditary folate malabsorption (HFM) [MIM:229050]	SWISS	77	COG2814	31543204,NP_542400
113235	74732636	Disease	p.Gly147Arg	VAR_032826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032826	- Hereditary folate malabsorption (HFM) [MIM:229050]	SWISS	229	pfam07690	31543204,NP_542400
113235	74732636	Disease	p.Gly147Arg	VAR_032826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032826	- Hereditary folate malabsorption (HFM) [MIM:229050]	SWISS	208	cd06174	31543204,NP_542400
113235	74732636	Disease	p.Gly147Arg	VAR_032826	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032826	- Hereditary folate malabsorption (HFM) [MIM:229050]	SWISS	107	COG2814	31543204,NP_542400
113235	74732636	Disease	p.Ser318Arg	VAR_032827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032827	- Hereditary folate malabsorption (HFM) [MIM:229050]	SWISS	580	pfam07690	31543204,NP_542400
113235	74732636	Disease	p.Ser318Arg	VAR_032827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032827	- Hereditary folate malabsorption (HFM) [MIM:229050]	SWISS	571	cd06174	31543204,NP_542400
113235	74732636	Disease	p.Ser318Arg	VAR_032827	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032827	- Hereditary folate malabsorption (HFM) [MIM:229050]	SWISS	272	COG2814	31543204,NP_542400
113235	74732636	Disease	p.Arg376Trp	VAR_032828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032828	- Hereditary folate malabsorption (HFM) [MIM:229050]	SWISS	699	pfam07690	31543204,NP_542400
113235	74732636	Disease	p.Arg376Trp	VAR_032828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032828	- Hereditary folate malabsorption (HFM) [MIM:229050]	SWISS	775	cd06174	31543204,NP_542400
113235	74732636	Disease	p.Arg376Trp	VAR_032828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032828	- Hereditary folate malabsorption (HFM) [MIM:229050]	SWISS	341	COG2814	31543204,NP_542400
113235	74732636	Disease	p.Pro425Arg	VAR_032829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032829	- Hereditary folate malabsorption (HFM) [MIM:229050]	SWISS	894	cd06174	31543204,NP_542400
113235	74732636	Disease	p.Pro425Arg	VAR_032829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032829	- Hereditary folate malabsorption (HFM) [MIM:229050]	SWISS	396	COG2814	31543204,NP_542400
6521	114787	Disease	p.Glu90Lys	VAR_013784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013784	rs28929480 Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	5	pfam07565	4507021,NP_000333
6521	114787	Disease	p.Gly130Arg	VAR_013785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013785	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	45	pfam07565	4507021,NP_000333
6521	114787	Disease	p.Pro147Ser	VAR_013786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013786	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	62	pfam07565	4507021,NP_000333
6521	114787	Disease	p.Ala285Asp	VAR_013787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013787	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	393	pfam07565	4507021,NP_000333
6521	114787	Disease	p.Pro327Arg	VAR_000800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000800	rs28931583 Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	435	pfam07565	4507021,NP_000333
6521	114787	Disease	p.Gly455Glu	VAR_013789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013789	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	85	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Gly455Arg	VAR_058038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058038	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	85	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Val488Met	VAR_013791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013791	rs28931584 Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	118	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Arg490Cys	VAR_013792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013792	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	120	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Arg490His	VAR_058039	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058039	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	120	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Arg518Cys	VAR_000802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000802	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	148	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Arg589Cys	VAR_015104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015104	- Autosomal dominant distal renal tubular acidosis (AD-dRTA) [MIM:179800]	SWISS	282	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Arg589His	VAR_015105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015105	- Autosomal dominant distal renal tubular acidosis (AD-dRTA) [MIM:179800]	SWISS	282	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Arg589Ser	VAR_015106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015106	- Autosomal dominant distal renal tubular acidosis (AD-dRTA) [MIM:179800]	SWISS	282	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Arg602Pro	VAR_039292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039292	- Autosomal recessive distal renal tubular acidosis (AR-dRTA) [MIM:611590]	SWISS	295	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Gly609Arg	VAR_058041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058041	- Autosomal dominant distal renal tubular acidosis (AD-dRTA) [MIM:179800]	SWISS	302	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Ser613Phe	VAR_015107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015107	- Autosomal dominant distal renal tubular acidosis (AD-dRTA) [MIM:179800]	SWISS	306	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Met663Lys	VAR_058042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058042	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	356	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Leu687Pro	VAR_039293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039293	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	380	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Gly701Asp	VAR_015171	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015171	- Autosomal recessive distal renal tubular acidosis (AR-dRTA) [MIM:611590]	SWISS	394	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Asp705Tyr	VAR_039294	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039294	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	398	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Leu707Pro	VAR_013804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013804	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	400	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Gly714Arg	VAR_013805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013805	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	407	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Ser731Pro	VAR_039295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039295	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	424	pfam00955	4507021,NP_000333
6521	114787	Disease	p.His734Arg	VAR_039296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039296	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	427	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Arg760Gln	VAR_013806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013806	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	453	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Arg760Trp	VAR_013807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013807	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	453	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Gly771Asp	VAR_013808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013808	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	464	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Ser773Pro	VAR_039297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039297	- Autosomal recessive distal renal tubular acidosis (AR-dRTA) [MIM:611590]	SWISS	466	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Ile783Asn	VAR_013809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013809	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	476	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Arg808Cys	VAR_013810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013810	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	517	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Arg808His	VAR_013811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013811	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	517	pfam00955	4507021,NP_000333
6521	114787	Disease	p.His834Pro	VAR_013812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013812	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	543	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Thr837Ala	VAR_013813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013813	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	546	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Thr837Met	VAR_013814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013814	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	546	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Thr837Arg	VAR_058043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058043	- Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	546	pfam00955	4507021,NP_000333
6521	114787	Disease	p.Ala858Asp	VAR_015108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015108	- Autosomal dominant distal renal tubular acidosis (AD-dRTA) [MIM:179800]	SWISS	No Domain	N/A	4507021,NP_000333
6521	114787	Disease	p.Arg870Trp	VAR_013816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013816	rs28931585 Spherocytosis type 4 (SPH4) [MIM:612653]	SWISS	No Domain	N/A	4507021,NP_000333
83959	29611858	Disease	p.Arg125His	VAR_063713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063713	- Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]	SWISS	No Domain	N/A	14042960,NP_114423
83959	29611858	Disease	p.Ala160Thr	VAR_034945	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034945	- Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]	SWISS	No Domain	N/A	14042960,NP_114423
83959	29611858	Disease	p.Ser213Pro	VAR_034946	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034946	- Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]	SWISS	No Domain	N/A	14042960,NP_114423
83959	29611858	Disease	p.Ala269Val	VAR_063714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063714	- Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]	SWISS	No Domain	N/A	14042960,NP_114423
83959	29611858	Disease	p.Cys386Arg	VAR_063715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063715	- Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]	SWISS	46	pfam00955	14042960,NP_114423
83959	29611858	Disease	p.Glu399Lys	VAR_047809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047809	- Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268]	SWISS	59	pfam00955	14042960,NP_114423
83959	29611858	Disease	p.Gly464Asp	VAR_030662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030662	- Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]	SWISS	124	pfam00955	14042960,NP_114423
83959	29611858	Disease	p.Arg488Lys	VAR_034947	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034947	- Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]	SWISS	148	pfam00955	14042960,NP_114423
83959	29611858	Disease	p.Ser489Leu	VAR_030663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030663	- Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]	SWISS	149	pfam00955	14042960,NP_114423
83959	29611858	Disease	p.Gly709Glu	VAR_047812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047812	- Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268]	SWISS	408	pfam00955	14042960,NP_114423
83959	29611858	Disease	p.Thr754Met	VAR_047813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_047813	- Corneal dystrophy Fuchs endothelial type 4 (FECD4) [MIM:613268]	SWISS	452	pfam00955	14042960,NP_114423
83959	29611858	Disease	p.Arg755Gln	VAR_030664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030664	- Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]	SWISS	453	pfam00955	14042960,NP_114423
83959	29611858	Disease	p.Arg755Trp	VAR_063716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063716	- Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]	SWISS	453	pfam00955	14042960,NP_114423
83959	29611858	Disease	p.Pro773Leu	VAR_063717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063717	- Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]	SWISS	471	pfam00955	14042960,NP_114423
83959	29611858	Disease	p.Arg804His	VAR_034948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034948	- Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]	SWISS	517	pfam00955	14042960,NP_114423
83959	29611858	Disease	p.Val824Met	VAR_034949	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034949	- Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]	SWISS	537	pfam00955	14042960,NP_114423
83959	29611858	Disease	p.Thr833Met	VAR_034950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034950	- Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]	SWISS	546	pfam00955	14042960,NP_114423
83959	29611858	Disease	p.Leu843Pro	VAR_034951	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034951	- Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]	SWISS	No Domain	N/A	14042960,NP_114423
83959	29611858	Disease	p.Met856Val	VAR_034953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034953	- Corneal dystrophy and perceptive deafness (CDPD) [MIM:217400]	SWISS	No Domain	N/A	14042960,NP_114423
83959	29611858	Disease	p.Arg869Cys	VAR_030665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030665	- Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]	SWISS	No Domain	N/A	14042960,NP_114423
83959	29611858	Disease	p.Arg869His	VAR_034954	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034954	- Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]	SWISS	No Domain	N/A	14042960,NP_114423
83959	29611858	Disease	p.Leu873Pro	VAR_063718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063718	- Corneal endothelial dystrophy type 2 (CHED2) [MIM:217700]	SWISS	No Domain	N/A	14042960,NP_114423
8671	74721543	Disease	p.Arg342Ser	VAR_024751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024751	- Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278]	SWISS	391	pfam07565	148596928,NP_001091954
8671	74721543	Disease	p.Ser471Leu	VAR_024752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024752	- Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278]	SWISS	37	pfam00955	148596928,NP_001091954
8671	74721543	Disease	p.Thr529Ser	VAR_024753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024753	- Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278]	SWISS	95	pfam00955	148596928,NP_001091954
8671	74721543	Disease	p.Arg554His	VAR_024754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024754	- Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278]	SWISS	120	pfam00955	148596928,NP_001091954
8671	74721543	Disease	p.Ala843Val	VAR_024755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024755	- Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278]	SWISS	419	pfam00955	148596928,NP_001091954
8671	74721543	Disease	p.Arg925Cys	VAR_024756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024756	- Proximal renal tubular acidosis with ocular abnormalities (pRTA-OA) [MIM:604278]	SWISS	517	pfam00955	148596928,NP_001091954
6523	127803	Disease	p.Asp28Gly	VAR_013630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013630	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	2	COG4145	4507031,NP_000334
6523	127803	Disease	p.Asp28Gly	VAR_013630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013630	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	5	COG0591	4507031,NP_000334
6523	127803	Disease	p.Asp28Gly	VAR_013630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013630	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	8	COG4147	4507031,NP_000334
6523	127803	Disease	p.Asp28Gly	VAR_013630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013630	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	5	COG4146	4507031,NP_000334
6523	127803	Disease	p.Asp28Asn	VAR_007168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007168	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	2	COG4145	4507031,NP_000334
6523	127803	Disease	p.Asp28Asn	VAR_007168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007168	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	5	COG0591	4507031,NP_000334
6523	127803	Disease	p.Asp28Asn	VAR_007168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007168	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	8	COG4147	4507031,NP_000334
6523	127803	Disease	p.Asp28Asn	VAR_007168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007168	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	5	COG4146	4507031,NP_000334
6523	127803	Disease	p.Arg135Trp	VAR_021502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021502	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	117	COG4145	4507031,NP_000334
6523	127803	Disease	p.Arg135Trp	VAR_021502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021502	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	123	COG0591	4507031,NP_000334
6523	127803	Disease	p.Arg135Trp	VAR_021502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021502	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	113	COG4147	4507031,NP_000334
6523	127803	Disease	p.Arg135Trp	VAR_021502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021502	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	112	COG4146	4507031,NP_000334
6523	127803	Disease	p.Arg135Trp	VAR_021502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021502	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	83	pfam00474	4507031,NP_000334
6523	127803	Disease	p.Gly318Arg	VAR_021503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021503	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	290	COG4145	4507031,NP_000334
6523	127803	Disease	p.Gly318Arg	VAR_021503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021503	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	320	COG0591	4507031,NP_000334
6523	127803	Disease	p.Gly318Arg	VAR_021503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021503	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	391	COG4147	4507031,NP_000334
6523	127803	Disease	p.Gly318Arg	VAR_021503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021503	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	286	COG4146	4507031,NP_000334
6523	127803	Disease	p.Gly318Arg	VAR_021503	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021503	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	273	pfam00474	4507031,NP_000334
6523	127803	Disease	p.Ala468Val	VAR_021504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021504	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	425	COG4145	4507031,NP_000334
6523	127803	Disease	p.Ala468Val	VAR_021504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021504	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	511	COG0591	4507031,NP_000334
6523	127803	Disease	p.Ala468Val	VAR_021504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021504	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	578_G	COG4147	4507031,NP_000334
6523	127803	Disease	p.Ala468Val	VAR_021504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021504	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	420	COG4146	4507031,NP_000334
6523	127803	Disease	p.Ala468Val	VAR_021504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021504	- Congenital glucose/galactose malabsorption (GGM) [MIM:606824]	SWISS	423	pfam00474	4507031,NP_000334
6524	400337	Disease	p.Asn654Ser	VAR_019310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019310	- Renal glucosuria (GLYS1) [MIM:233100]	SWISS	No Domain	N/A	4507033,NP_003032
6528	12643359	Disease	p.Gly93Arg	VAR_010263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010263	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	82	COG4147	4507035,NP_000444
6528	12643359	Disease	p.Gly93Arg	VAR_010263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010263	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	82	COG4145	4507035,NP_000444
6528	12643359	Disease	p.Gly93Arg	VAR_010263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010263	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	86	COG0591	4507035,NP_000444
6528	12643359	Disease	p.Gly93Arg	VAR_010263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010263	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	47	pfam00474	4507035,NP_000444
6528	12643359	Disease	p.Gly93Arg	VAR_010263	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010263	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	81	COG4146	4507035,NP_000444
6528	12643359	Disease	p.Gln267Glu	VAR_010265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010265	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	379	COG4147	4507035,NP_000444
6528	12643359	Disease	p.Gln267Glu	VAR_010265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010265	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	271_G	COG4145	4507035,NP_000444
6528	12643359	Disease	p.Gln267Glu	VAR_010265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010265	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	297	COG0591	4507035,NP_000444
6528	12643359	Disease	p.Gln267Glu	VAR_010265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010265	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	254	pfam00474	4507035,NP_000444
6528	12643359	Disease	p.Gln267Glu	VAR_010265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010265	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	267	COG4146	4507035,NP_000444
6528	12643359	Disease	p.Thr354Pro	VAR_010266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010266	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	503	COG4147	4507035,NP_000444
6528	12643359	Disease	p.Thr354Pro	VAR_010266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010266	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	356	COG4145	4507035,NP_000444
6528	12643359	Disease	p.Thr354Pro	VAR_010266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010266	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	399	COG0591	4507035,NP_000444
6528	12643359	Disease	p.Thr354Pro	VAR_010266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010266	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	348	pfam00474	4507035,NP_000444
6528	12643359	Disease	p.Thr354Pro	VAR_010266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010266	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	345	COG4146	4507035,NP_000444
6528	12643359	Disease	p.Gly395Arg	VAR_010267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010267	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	546	COG4147	4507035,NP_000444
6528	12643359	Disease	p.Gly395Arg	VAR_010267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010267	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	399	COG4145	4507035,NP_000444
6528	12643359	Disease	p.Gly395Arg	VAR_010267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010267	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	446	COG0591	4507035,NP_000444
6528	12643359	Disease	p.Gly395Arg	VAR_010267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010267	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	390	pfam00474	4507035,NP_000444
6528	12643359	Disease	p.Gly395Arg	VAR_010267	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010267	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	387	COG4146	4507035,NP_000444
6528	12643359	Disease	p.Gly543Glu	VAR_010269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010269	- Congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]	SWISS	570	COG4146	4507035,NP_000444
340024	73919285	Disease	p.Arg57Cys	VAR_023314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023314	- Hartnup disorder (HND) [MIM:234500]	SWISS	26	pfam00209	51468073,NP_001003841
340024	73919285	Disease	p.Arg57Cys	VAR_023314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023314	- Hartnup disorder (HND) [MIM:234500]	SWISS	35	COG0733	51468073,NP_001003841
340024	73919285	Disease	p.Asp173Asn	VAR_023315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023315	- Hartnup disorder (HND) [MIM:234500]	SWISS	174	pfam00209	51468073,NP_001003841
340024	73919285	Disease	p.Asp173Asn	VAR_023315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023315	- Hartnup disorder (HND) [MIM:234500]	SWISS	151	COG0733	51468073,NP_001003841
340024	73919285	Disease	p.Leu242Pro	VAR_023317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023317	- Hartnup disorder (HND) [MIM:234500]	SWISS	253	pfam00209	51468073,NP_001003841
340024	73919285	Disease	p.Leu242Pro	VAR_023317	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023317	- Hartnup disorder (HND) [MIM:234500]	SWISS	227	COG0733	51468073,NP_001003841
340024	73919285	Disease	p.Glu501Lys	VAR_023319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023319	- Hartnup disorder (HND) [MIM:234500]	SWISS	528	pfam00209	51468073,NP_001003841
340024	73919285	Disease	p.Glu501Lys	VAR_023319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023319	- Hartnup disorder (HND) [MIM:234500]	SWISS	473	COG0733	51468073,NP_001003841
6530	128616	Disease	p.Ala457Pro	VAR_010022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010022	- Orthostatic intolerance (OI) [MIM:604715]	SWISS	430	COG0733	289191351,NP_001165972|4557046,NP_001034
6530	128616	Disease	p.Ala457Pro	VAR_010022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010022	- Orthostatic intolerance (OI) [MIM:604715]	SWISS	495	pfam00209	289191351,NP_001165972|4557046,NP_001034
6531	266667	Disease	p.Leu368Gln	VAR_063771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063771	- Dystonia-parkinsonism infantile (DYTPRI) [MIM:613135]	SWISS	336	pfam00209	4507041,NP_001035
6531	266667	Disease	p.Leu368Gln	VAR_063771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063771	- Dystonia-parkinsonism infantile (DYTPRI) [MIM:613135]	SWISS	332	COG0733	4507041,NP_001035
6531	266667	Disease	p.Pro395Leu	VAR_063772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063772	- Dystonia-parkinsonism infantile (DYTPRI) [MIM:613135]	SWISS	427	pfam00209	4507041,NP_001035
6531	266667	Disease	p.Pro395Leu	VAR_063772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063772	- Dystonia-parkinsonism infantile (DYTPRI) [MIM:613135]	SWISS	364	COG0733	4507041,NP_001035
9152	296452967	Disease	p.Leu306Val	VAR_044168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044168	- Startle disease (STHE) [MIM:149400]	SWISS	117	pfam00209	92859670,NP_004202
9152	296452967	Disease	p.Leu306Val	VAR_044168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044168	- Startle disease (STHE) [MIM:149400]	SWISS	140	COG0733	92859670,NP_004202
9152	296452967	Disease	p.Thr425Met	VAR_044169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044169	- Startle disease (STHE) [MIM:149400]	SWISS	237	pfam00209	92859670,NP_004202
9152	296452967	Disease	p.Thr425Met	VAR_044169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044169	- Startle disease (STHE) [MIM:149400]	SWISS	211	COG0733	92859670,NP_004202
9152	296452967	Disease	p.Trp482Cys	VAR_044171	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044171	- Startle disease (STHE) [MIM:149400]	SWISS	294	pfam00209	92859670,NP_004202
9152	296452967	Disease	p.Trp482Cys	VAR_044171	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044171	- Startle disease (STHE) [MIM:149400]	SWISS	278	COG0733	92859670,NP_004202
9152	296452967	Disease	p.Tyr491Cys	VAR_044172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044172	- Startle disease (STHE) [MIM:149400]	SWISS	303	pfam00209	92859670,NP_004202
9152	296452967	Disease	p.Tyr491Cys	VAR_044172	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044172	- Startle disease (STHE) [MIM:149400]	SWISS	287	COG0733	92859670,NP_004202
9152	296452967	Disease	p.Asn509Ser	VAR_044174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044174	- Startle disease (STHE) [MIM:149400]	SWISS	321	pfam00209	92859670,NP_004202
9152	296452967	Disease	p.Asn509Ser	VAR_044174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044174	- Startle disease (STHE) [MIM:149400]	SWISS	305	COG0733	92859670,NP_004202
9152	296452967	Disease	p.Ser510Arg	VAR_044175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044175	- Startle disease (STHE) [MIM:149400]	SWISS	322	pfam00209	92859670,NP_004202
9152	296452967	Disease	p.Ser510Arg	VAR_044175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044175	- Startle disease (STHE) [MIM:149400]	SWISS	306	COG0733	92859670,NP_004202
6535	1352529	Disease	p.Gly87Arg	VAR_020525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020525	- X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]	SWISS	36	pfam00209	5032097,NP_005620
6535	1352529	Disease	p.Gly87Arg	VAR_020525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020525	- X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]	SWISS	45	COG0733	5032097,NP_005620
6535	1352529	Disease	p.Gly132Val	VAR_063707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063707	- X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]	SWISS	82	pfam00209	5032097,NP_005620
6535	1352529	Disease	p.Gly132Val	VAR_063707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063707	- X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]	SWISS	101	COG0733	5032097,NP_005620
6535	1352529	Disease	p.Cys337Trp	VAR_063708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063708	- X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]	SWISS	310	pfam00209	5032097,NP_005620
6535	1352529	Disease	p.Cys337Trp	VAR_063708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063708	- X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]	SWISS	294	COG0733	5032097,NP_005620
6535	1352529	Disease	p.Gly381Arg	VAR_020526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020526	- X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]	SWISS	418	pfam00209	5032097,NP_005620
6535	1352529	Disease	p.Gly381Arg	VAR_020526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020526	- X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]	SWISS	350	COG0733	5032097,NP_005620
6535	1352529	Disease	p.Pro390Leu	VAR_020527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020527	- X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]	SWISS	427	pfam00209	5032097,NP_005620
6535	1352529	Disease	p.Pro390Leu	VAR_020527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020527	- X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]	SWISS	364	COG0733	5032097,NP_005620
6535	1352529	Disease	p.Cys491Trp	VAR_063709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063709	- X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]	SWISS	529	pfam00209	5032097,NP_005620
6535	1352529	Disease	p.Cys491Trp	VAR_063709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063709	- X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]	SWISS	474	COG0733	5032097,NP_005620
6535	1352529	Disease	p.Pro554Leu	VAR_020529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020529	- X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]	SWISS	604	pfam00209	5032097,NP_005620
9056	12643378	Disease	p.Thr5Ile	VAR_039092	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039092	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	5	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Met50Lys	VAR_030595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030595	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	10	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Met50Lys	VAR_030595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030595	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	98	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Met50Lys	VAR_030595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030595	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	28	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Met50Lys	VAR_030595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030595	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	28	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Ser53Leu	VAR_039094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039094	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	15	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Ser53Leu	VAR_039094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039094	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	101	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Ser53Leu	VAR_039094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039094	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	41	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Ser53Leu	VAR_039094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039094	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	31	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Gly54Val	VAR_010261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010261	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	16	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Gly54Val	VAR_010261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010261	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	102	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Gly54Val	VAR_010261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010261	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	42	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Gly54Val	VAR_010261	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010261	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	32	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu124Pro	VAR_039096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039096	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	102	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu124Pro	VAR_039096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039096	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	180	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu124Pro	VAR_039096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039096	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	197	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu124Pro	VAR_039096	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039096	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	104	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Ala140Pro	VAR_039097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039097	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	114	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Ala140Pro	VAR_039097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039097	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	196	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Ala140Pro	VAR_039097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039097	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	260	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Ala140Pro	VAR_039097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039097	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	120	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Phe152Leu	VAR_039098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039098	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	129	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Phe152Leu	VAR_039098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039098	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	216	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Phe152Leu	VAR_039098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039098	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	309	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Phe152Leu	VAR_039098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039098	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	129	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Thr188Ile	VAR_030596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030596	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	181	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Thr188Ile	VAR_030596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030596	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	251	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Thr188Ile	VAR_030596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030596	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	383	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Thr188Ile	VAR_030596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030596	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	165	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Lys191Glu	VAR_039100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039100	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	184	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Lys191Glu	VAR_039100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039100	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	254	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Lys191Glu	VAR_039100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039100	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	386	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Lys191Glu	VAR_039100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039100	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	168	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Ser238Phe	VAR_030597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030597	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	263	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Ser238Phe	VAR_030597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030597	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	339	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Ser238Phe	VAR_030597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030597	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	481	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Ser238Phe	VAR_030597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030597	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	237	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Glu251Asp	VAR_039101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039101	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	277	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Glu251Asp	VAR_039101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039101	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	353	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Glu251Asp	VAR_039101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039101	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	503	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Glu251Asp	VAR_039101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039101	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	250	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu261Pro	VAR_039102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039102	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	287	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu261Pro	VAR_039102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039102	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	363	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu261Pro	VAR_039102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039102	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	524	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu261Pro	VAR_039102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039102	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	260	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Arg333Met	VAR_030598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030598	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	412	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Arg333Met	VAR_030598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030598	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	486	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Arg333Met	VAR_030598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030598	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	697	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Arg333Met	VAR_030598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030598	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	342	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu334Arg	VAR_010262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010262	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	413	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu334Arg	VAR_010262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010262	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	487	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu334Arg	VAR_010262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010262	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	698	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Leu334Arg	VAR_010262	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010262	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	343	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Gly338Asp	VAR_010999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010999	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	417	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Gly338Asp	VAR_010999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010999	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	491	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Gly338Asp	VAR_010999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010999	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	702	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Gly338Asp	VAR_010999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010999	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	347	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Asn365Tyr	VAR_039103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039103	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	449	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Asn365Tyr	VAR_039103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039103	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	518	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Asn365Tyr	VAR_039103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039103	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	747	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Asn365Tyr	VAR_039103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039103	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	377	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Ser386Arg	VAR_011000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011000	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	488	pfam00324	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Ser386Arg	VAR_011000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011000	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	550	COG0833	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Ser386Arg	VAR_011000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011000	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	808	COG0531	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Ser386Arg	VAR_011000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011000	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	407	COG1113	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
9056	12643378	Disease	p.Ser489Pro	VAR_030599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030599	- Lysinuric protein intolerance (LPI) [MIM:222700]	SWISS	No Domain	N/A	186910308,NP_001119578|186910304,NP_003973|186910306,NP_001119577
11136	12585187	Disease	p.Ile44Thr	VAR_014363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014363	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	99	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ile44Thr	VAR_014363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014363	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	11	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ile44Thr	VAR_014363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014363	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	29	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ile44Thr	VAR_014363	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014363	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	29	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Pro52Leu	VAR_018998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018998	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	107	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Pro52Leu	VAR_018998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018998	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	21	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Pro52Leu	VAR_018998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018998	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	37	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Pro52Leu	VAR_018998	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018998	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	47	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly63Arg	VAR_018999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018999	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	118	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly63Arg	VAR_018999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018999	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	32	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly63Arg	VAR_018999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018999	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	45	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly63Arg	VAR_018999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018999	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	63	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Trp69Leu	VAR_019000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019000	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	123	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Trp69Leu	VAR_019000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019000	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	39	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Trp69Leu	VAR_019000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019000	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	52	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Trp69Leu	VAR_019000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019000	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	71	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala70Val	VAR_019001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019001	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	124	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala70Val	VAR_019001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019001	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	41	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala70Val	VAR_019001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019001	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	53	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala70Val	VAR_019001	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019001	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	73	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly105Arg	VAR_010256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010256	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	162_G	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly105Arg	VAR_010256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010256	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	81	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly105Arg	VAR_010256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010256	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	90	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly105Arg	VAR_010256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010256	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	117	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Thr123Met	VAR_019002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019002	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	186	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Thr123Met	VAR_019002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019002	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	109	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Thr123Met	VAR_019002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019002	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	102_G	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Thr123Met	VAR_019002	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019002	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	205	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala126Thr	VAR_019003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019003	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	189	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala126Thr	VAR_019003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019003	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	114	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala126Thr	VAR_019003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019003	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	104	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala126Thr	VAR_019003	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019003	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	208	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Val170Met	VAR_010257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010257	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	240	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Val170Met	VAR_010257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010257	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	168	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Val170Met	VAR_010257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010257	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	154	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Val170Met	VAR_010257	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010257	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	354	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala182Thr	VAR_010258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010258	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	258	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala182Thr	VAR_010258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010258	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	182	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala182Thr	VAR_010258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010258	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	166	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala182Thr	VAR_010258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010258	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	384	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ile187Phe	VAR_019005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019005	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	263	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ile187Phe	VAR_019005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019005	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	187	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ile187Phe	VAR_019005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019005	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	171	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ile187Phe	VAR_019005	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019005	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	389	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly195Arg	VAR_010259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010259	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	271	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly195Arg	VAR_010259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010259	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	195	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly195Arg	VAR_010259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010259	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	179	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly195Arg	VAR_010259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010259	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	397	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala224Val	VAR_022603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022603	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	332	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala224Val	VAR_022603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022603	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	256	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala224Val	VAR_022603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022603	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	234	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala224Val	VAR_022603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022603	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	474	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Trp230Arg	VAR_019008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019008	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	338	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Trp230Arg	VAR_019008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019008	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	262	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Trp230Arg	VAR_019008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019008	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	236_G	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Trp230Arg	VAR_019008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019008	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	480	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ile241Thr	VAR_019009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019009	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	350	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ile241Thr	VAR_019009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019009	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	274	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ile241Thr	VAR_019009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019009	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	240_G	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ile241Thr	VAR_019009	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019009	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	498	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly259Arg	VAR_010260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010260	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	374	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly259Arg	VAR_010260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010260	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	292	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly259Arg	VAR_010260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010260	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	268	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Gly259Arg	VAR_010260	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010260	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	529	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Pro261Leu	VAR_014364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014364	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	376	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Pro261Leu	VAR_014364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014364	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	294	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Pro261Leu	VAR_014364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014364	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	270	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Pro261Leu	VAR_014364	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014364	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	545	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Val330Met	VAR_015885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015885	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	490	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Val330Met	VAR_015885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015885	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	416	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Val330Met	VAR_015885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015885	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	346	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Val330Met	VAR_015885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015885	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	701	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala331Val	VAR_022604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022604	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	491	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala331Val	VAR_022604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022604	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	417	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala331Val	VAR_022604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022604	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	348	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala331Val	VAR_022604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022604	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	702	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Arg333Trp	VAR_019011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019011	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	493	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Arg333Trp	VAR_019011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019011	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	419	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Arg333Trp	VAR_019011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019011	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	353	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Arg333Trp	VAR_019011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019011	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	704	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala354Thr	VAR_014365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014365	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	514	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala354Thr	VAR_014365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014365	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	444	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala354Thr	VAR_014365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014365	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	373	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala354Thr	VAR_014365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014365	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	743	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ser379Arg	VAR_019012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019012	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	546	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ser379Arg	VAR_019012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019012	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	485	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ser379Arg	VAR_019012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019012	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	409	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ser379Arg	VAR_019012	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019012	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	808	COG0531	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala382Thr	VAR_019013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019013	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	556	COG0833	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala382Thr	VAR_019013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019013	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	488	pfam00324	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala382Thr	VAR_019013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019013	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	412	COG1113	187423910,NP_001119807|7657591,NP_055085
11136	12585187	Disease	p.Ala382Thr	VAR_019013	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019013	- Non-type I cystinuria (CSNU) [MIM:220100]	SWISS	811	COG0531	187423910,NP_001119807|7657591,NP_055085
9368	41688557	Disease	p.Leu110Val	VAR_034899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034899	rs35910969 Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287]	SWISS	No Domain	N/A	4759140,NP_004243
9368	41688557	Disease	p.Arg153Gln	VAR_048021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048021	rs41282065 Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287]	SWISS	2	cd00992	4759140,NP_004243
9368	41688557	Disease	p.Arg153Gln	VAR_048021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048021	rs41282065 Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287]	SWISS	3	smart00228	4759140,NP_004243
9368	41688557	Disease	p.Glu225Lys	VAR_048022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048022	- Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287]	SWISS	201	cd00992	4759140,NP_004243
9368	41688557	Disease	p.Glu225Lys	VAR_048022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048022	- Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287]	SWISS	100	cd00988	4759140,NP_004243
9368	41688557	Disease	p.Glu225Lys	VAR_048022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048022	- Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287]	SWISS	105	pfam00595	4759140,NP_004243
9368	41688557	Disease	p.Glu225Lys	VAR_048022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048022	- Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287]	SWISS	173	cd00136	4759140,NP_004243
9368	41688557	Disease	p.Glu225Lys	VAR_048022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_048022	- Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287]	SWISS	279	smart00228	4759140,NP_004243
57152	3287957	Disease	p.Trp15Arg	VAR_032871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032871	- Mal de Meleda (MDM) [MIM:248300]	SWISS	No Domain	N/A	9966907,NP_065160
57152	3287957	Disease	p.Arg71His	VAR_032872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032872	- Mal de Meleda (MDM) [MIM:248300]	SWISS	55	pfam00021	9966907,NP_065160
57152	3287957	Disease	p.Arg71His	VAR_032872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032872	- Mal de Meleda (MDM) [MIM:248300]	SWISS	60	cd00117	9966907,NP_065160
57152	3287957	Disease	p.Cys77Arg	VAR_032873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032873	- Mal de Meleda (MDM) [MIM:248300]	SWISS	63	pfam00021	9966907,NP_065160
57152	3287957	Disease	p.Cys77Arg	VAR_032873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032873	- Mal de Meleda (MDM) [MIM:248300]	SWISS	68	cd00117	9966907,NP_065160
57152	3287957	Disease	p.Gly86Arg	VAR_032874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032874	rs28937888 Mal de Meleda (MDM) [MIM:248300]	SWISS	82	pfam00021	9966907,NP_065160
57152	3287957	Disease	p.Gly86Arg	VAR_032874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032874	rs28937888 Mal de Meleda (MDM) [MIM:248300]	SWISS	93	cd00117	9966907,NP_065160
57152	3287957	Disease	p.Cys99Tyr	VAR_032875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032875	- Mal de Meleda (MDM) [MIM:248300]	SWISS	108	pfam00021	9966907,NP_065160
57152	3287957	Disease	p.Cys99Tyr	VAR_032875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032875	- Mal de Meleda (MDM) [MIM:248300]	SWISS	107	cd00117	9966907,NP_065160
4089	13959561	Disease	p.Glu330Gly	VAR_022833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022833	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	14	cd00050	4885457,NP_005350
4089	13959561	Disease	p.Glu330Gly	VAR_022833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022833	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	10	pfam03166	4885457,NP_005350
4089	13959561	Disease	p.Glu330Gly	VAR_022833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022833	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	9	smart00524	4885457,NP_005350
4089	13959561	Disease	p.Gly352Arg	VAR_019571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019571	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	37	cd00050	4885457,NP_005350
4089	13959561	Disease	p.Gly352Arg	VAR_019571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019571	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	33	pfam03166	4885457,NP_005350
4089	13959561	Disease	p.Gly352Arg	VAR_019571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019571	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	34	smart00524	4885457,NP_005350
4089	13959561	Disease	p.Gly352Arg	VAR_019571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019571	- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050]	SWISS	37	cd00050	4885457,NP_005350
4089	13959561	Disease	p.Gly352Arg	VAR_019571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019571	- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050]	SWISS	33	pfam03166	4885457,NP_005350
4089	13959561	Disease	p.Gly352Arg	VAR_019571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019571	- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050]	SWISS	34	smart00524	4885457,NP_005350
4089	13959561	Disease	p.Arg361Cys	VAR_019572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019572	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	50	cd00050	4885457,NP_005350
4089	13959561	Disease	p.Arg361Cys	VAR_019572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019572	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	48	pfam03166	4885457,NP_005350
4089	13959561	Disease	p.Arg361Cys	VAR_019572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019572	- Juvenile polyposis syndrome (JPS) [MIM:174900]	SWISS	52	smart00524	4885457,NP_005350
4089	13959561	Disease	p.Gly386Asp	VAR_019573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019573	rs28936393 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050]	SWISS	77	cd00050	4885457,NP_005350
4089	13959561	Disease	p.Gly386Asp	VAR_019573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019573	rs28936393 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050]	SWISS	75	pfam03166	4885457,NP_005350
4089	13959561	Disease	p.Gly386Asp	VAR_019573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019573	rs28936393 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050]	SWISS	79	smart00524	4885457,NP_005350
50485	60390962	Disease	p.Ala468Pro	VAR_021370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021370	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	145	smart00487	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Ala468Pro	VAR_021370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021370	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	17	cd00046	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Ala468Pro	VAR_021370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021370	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	72	pfam00176	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Ala468Pro	VAR_021370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021370	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	601	COG0553	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Ile548Asn	VAR_021371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021371	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	964	smart00487	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Ile548Asn	VAR_021371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021371	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	410	cd00046	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Ile548Asn	VAR_021371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021371	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	271	pfam00176	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Ile548Asn	VAR_021371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021371	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	798	COG0553	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Ser579Leu	VAR_021372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021372	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	1202	smart00487	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Ser579Leu	VAR_021372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021372	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	481	cd00046	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Ser579Leu	VAR_021372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021372	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	307	pfam00176	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Ser579Leu	VAR_021372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021372	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	838	COG0553	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg586Trp	VAR_021373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021373	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	1219	smart00487	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg586Trp	VAR_021373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021373	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	314	pfam00176	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg586Trp	VAR_021373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021373	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	854	COG0553	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg644Trp	VAR_021374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021374	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	401	pfam00176	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg644Trp	VAR_021374	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021374	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	951	COG0553	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg645Cys	VAR_021375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021375	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	402	pfam00176	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg645Cys	VAR_021375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021375	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	952	COG0553	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Lys647Gln	VAR_021376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021376	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	407	pfam00176	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Lys647Gln	VAR_021376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021376	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	954	COG0553	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Lys647Thr	VAR_021377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021377	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	407	pfam00176	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Lys647Thr	VAR_021377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021377	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	954	COG0553	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Thr705Ile	VAR_021379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021379	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	9	cd00079	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Thr705Ile	VAR_021379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021379	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	493	pfam00176	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Thr705Ile	VAR_021379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021379	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	1151	COG0553	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg764Gln	VAR_021381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021381	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	148	cd00079	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg764Gln	VAR_021381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021381	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	41	pfam00271	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg764Gln	VAR_021381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021381	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	85	smart00490	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg764Gln	VAR_021381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021381	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	1408	COG0553	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg820His	VAR_021382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021382	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	241	cd00079	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg820His	VAR_021382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021382	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	161	pfam00271	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg820His	VAR_021382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021382	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	474	smart00490	187761314,NP_001120679|21071060,NP_054859
50485	60390962	Disease	p.Arg820His	VAR_021382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021382	- Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]	SWISS	1471	COG0553	187761314,NP_001120679|21071060,NP_054859
8243	29336622	Disease	p.Phe133Val	VAR_062786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062786	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	194	cd03227	30581135,NP_006297
8243	29336622	Disease	p.Phe133Val	VAR_062786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062786	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	186	cd03275	30581135,NP_006297
8243	29336622	Disease	p.Phe133Val	VAR_062786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062786	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	160	cd03239	30581135,NP_006297
8243	29336622	Disease	p.Phe133Val	VAR_062786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062786	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	194	cd03278	30581135,NP_006297
8243	29336622	Disease	p.Phe133Val	VAR_062786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062786	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	183	pfam02463	30581135,NP_006297
8243	29336622	Disease	p.Phe133Val	VAR_062786	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062786	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	188	COG1196	30581135,NP_006297
8243	29336622	Disease	p.Glu141Lys	VAR_062787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062787	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	202	cd03227	30581135,NP_006297
8243	29336622	Disease	p.Glu141Lys	VAR_062787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062787	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	194	cd03275	30581135,NP_006297
8243	29336622	Disease	p.Glu141Lys	VAR_062787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062787	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	168	cd03239	30581135,NP_006297
8243	29336622	Disease	p.Glu141Lys	VAR_062787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062787	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	201	cd03278	30581135,NP_006297
8243	29336622	Disease	p.Glu141Lys	VAR_062787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062787	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	191	pfam02463	30581135,NP_006297
8243	29336622	Disease	p.Glu141Lys	VAR_062787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062787	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	196	COG1196	30581135,NP_006297
8243	29336622	Disease	p.Arg196His	VAR_062788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062788	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	257	cd03227	30581135,NP_006297
8243	29336622	Disease	p.Arg196His	VAR_062788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062788	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	249	cd03275	30581135,NP_006297
8243	29336622	Disease	p.Arg196His	VAR_062788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062788	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	223	cd03239	30581135,NP_006297
8243	29336622	Disease	p.Arg196His	VAR_062788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062788	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	256	cd03278	30581135,NP_006297
8243	29336622	Disease	p.Arg196His	VAR_062788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062788	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	246	pfam02463	30581135,NP_006297
8243	29336622	Disease	p.Arg196His	VAR_062788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062788	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	260	COG1196	30581135,NP_006297
8243	29336622	Disease	p.Arg398Gln	VAR_062791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062791	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	454	cd03227	30581135,NP_006297
8243	29336622	Disease	p.Arg398Gln	VAR_062791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062791	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	451	cd03275	30581135,NP_006297
8243	29336622	Disease	p.Arg398Gln	VAR_062791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062791	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	400	cd03239	30581135,NP_006297
8243	29336622	Disease	p.Arg398Gln	VAR_062791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062791	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	440	cd03278	30581135,NP_006297
8243	29336622	Disease	p.Arg398Gln	VAR_062791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062791	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	448	pfam02463	30581135,NP_006297
8243	29336622	Disease	p.Arg398Gln	VAR_062791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062791	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	476	COG1196	30581135,NP_006297
8243	29336622	Disease	p.Glu493Ala	VAR_026529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026529	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	549	cd03227	30581135,NP_006297
8243	29336622	Disease	p.Glu493Ala	VAR_026529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026529	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	546	cd03275	30581135,NP_006297
8243	29336622	Disease	p.Glu493Ala	VAR_026529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026529	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	525	cd03239	30581135,NP_006297
8243	29336622	Disease	p.Glu493Ala	VAR_026529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026529	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	536	cd03278	30581135,NP_006297
8243	29336622	Disease	p.Glu493Ala	VAR_026529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026529	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	543	pfam02463	30581135,NP_006297
8243	29336622	Disease	p.Glu493Ala	VAR_026529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026529	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	579	COG1196	30581135,NP_006297
8243	29336622	Disease	p.Arg496Cys	VAR_062792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062792	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	552	cd03227	30581135,NP_006297
8243	29336622	Disease	p.Arg496Cys	VAR_062792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062792	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	549	cd03275	30581135,NP_006297
8243	29336622	Disease	p.Arg496Cys	VAR_062792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062792	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	528	cd03239	30581135,NP_006297
8243	29336622	Disease	p.Arg496Cys	VAR_062792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062792	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	539	cd03278	30581135,NP_006297
8243	29336622	Disease	p.Arg496Cys	VAR_062792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062792	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	546	pfam02463	30581135,NP_006297
8243	29336622	Disease	p.Arg496Cys	VAR_062792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062792	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	586	COG1196	30581135,NP_006297
8243	29336622	Disease	p.Arg496His	VAR_062793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062793	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	552	cd03227	30581135,NP_006297
8243	29336622	Disease	p.Arg496His	VAR_062793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062793	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	549	cd03275	30581135,NP_006297
8243	29336622	Disease	p.Arg496His	VAR_062793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062793	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	528	cd03239	30581135,NP_006297
8243	29336622	Disease	p.Arg496His	VAR_062793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062793	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	539	cd03278	30581135,NP_006297
8243	29336622	Disease	p.Arg496His	VAR_062793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062793	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	546	pfam02463	30581135,NP_006297
8243	29336622	Disease	p.Arg496His	VAR_062793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062793	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	586	COG1196	30581135,NP_006297
8243	29336622	Disease	p.Arg693Gly	VAR_062795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062795	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	836	cd03227	30581135,NP_006297
8243	29336622	Disease	p.Arg693Gly	VAR_062795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062795	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	859	cd03275	30581135,NP_006297
8243	29336622	Disease	p.Arg693Gly	VAR_062795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062795	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	757	cd03239	30581135,NP_006297
8243	29336622	Disease	p.Arg693Gly	VAR_062795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062795	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1070	cd03278	30581135,NP_006297
8243	29336622	Disease	p.Arg693Gly	VAR_062795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062795	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	795	pfam02463	30581135,NP_006297
8243	29336622	Disease	p.Arg693Gly	VAR_062795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062795	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	803	COG1196	30581135,NP_006297
8243	29336622	Disease	p.Arg711Trp	VAR_062796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062796	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	852	cd03227	30581135,NP_006297
8243	29336622	Disease	p.Arg711Trp	VAR_062796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062796	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	877	cd03275	30581135,NP_006297
8243	29336622	Disease	p.Arg711Trp	VAR_062796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062796	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	772	cd03239	30581135,NP_006297
8243	29336622	Disease	p.Arg711Trp	VAR_062796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062796	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1088	cd03278	30581135,NP_006297
8243	29336622	Disease	p.Arg711Trp	VAR_062796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062796	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	813	pfam02463	30581135,NP_006297
8243	29336622	Disease	p.Arg711Trp	VAR_062796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062796	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	821	COG1196	30581135,NP_006297
8243	29336622	Disease	p.Cys781Phe	VAR_062797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062797	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	913_G	cd03227	30581135,NP_006297
8243	29336622	Disease	p.Cys781Phe	VAR_062797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062797	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	947	cd03275	30581135,NP_006297
8243	29336622	Disease	p.Cys781Phe	VAR_062797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062797	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	839	cd03239	30581135,NP_006297
8243	29336622	Disease	p.Cys781Phe	VAR_062797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062797	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1142_G	cd03278	30581135,NP_006297
8243	29336622	Disease	p.Cys781Phe	VAR_062797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062797	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	883	pfam02463	30581135,NP_006297
8243	29336622	Disease	p.Cys781Phe	VAR_062797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062797	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	900	COG1196	30581135,NP_006297
8243	29336622	Disease	p.Arg790Gln	VAR_062798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062798	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	915	cd03227	30581135,NP_006297
8243	29336622	Disease	p.Arg790Gln	VAR_062798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062798	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	956	cd03275	30581135,NP_006297
8243	29336622	Disease	p.Arg790Gln	VAR_062798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062798	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	848	cd03239	30581135,NP_006297
8243	29336622	Disease	p.Arg790Gln	VAR_062798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062798	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1144	cd03278	30581135,NP_006297
8243	29336622	Disease	p.Arg790Gln	VAR_062798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062798	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	892	pfam02463	30581135,NP_006297
8243	29336622	Disease	p.Arg790Gln	VAR_062798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062798	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	912	COG1196	30581135,NP_006297
8243	29336622	Disease	p.Arg816Gly	VAR_062799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062799	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	941	cd03227	30581135,NP_006297
8243	29336622	Disease	p.Arg816Gly	VAR_062799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062799	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	982	cd03275	30581135,NP_006297
8243	29336622	Disease	p.Arg816Gly	VAR_062799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062799	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	870	cd03239	30581135,NP_006297
8243	29336622	Disease	p.Arg816Gly	VAR_062799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062799	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1170	cd03278	30581135,NP_006297
8243	29336622	Disease	p.Arg816Gly	VAR_062799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062799	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	918	pfam02463	30581135,NP_006297
8243	29336622	Disease	p.Arg816Gly	VAR_062799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062799	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	938	COG1196	30581135,NP_006297
8243	29336622	Disease	p.Arg1049Gln	VAR_062800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062800	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1161	cd03227	30581135,NP_006297
8243	29336622	Disease	p.Arg1049Gln	VAR_062800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062800	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1215	cd03275	30581135,NP_006297
8243	29336622	Disease	p.Arg1049Gln	VAR_062800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062800	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1062	cd03239	30581135,NP_006297
8243	29336622	Disease	p.Arg1049Gln	VAR_062800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062800	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1381	cd03278	30581135,NP_006297
8243	29336622	Disease	p.Arg1049Gln	VAR_062800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062800	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1151	pfam02463	30581135,NP_006297
8243	29336622	Disease	p.Arg1049Gln	VAR_062800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062800	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1185	COG1196	30581135,NP_006297
8243	29336622	Disease	p.Tyr1085Cys	VAR_062801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062801	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1197	cd03227	30581135,NP_006297
8243	29336622	Disease	p.Tyr1085Cys	VAR_062801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062801	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1251	cd03275	30581135,NP_006297
8243	29336622	Disease	p.Tyr1085Cys	VAR_062801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062801	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1098	cd03239	30581135,NP_006297
8243	29336622	Disease	p.Tyr1085Cys	VAR_062801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062801	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1417	cd03278	30581135,NP_006297
8243	29336622	Disease	p.Tyr1085Cys	VAR_062801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062801	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1187	pfam02463	30581135,NP_006297
8243	29336622	Disease	p.Tyr1085Cys	VAR_062801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062801	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1221	COG1196	30581135,NP_006297
8243	29336622	Disease	p.Phe1122Leu	VAR_062802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062802	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1234	cd03227	30581135,NP_006297
8243	29336622	Disease	p.Phe1122Leu	VAR_062802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062802	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1288	cd03275	30581135,NP_006297
8243	29336622	Disease	p.Phe1122Leu	VAR_062802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062802	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1133	cd03239	30581135,NP_006297
8243	29336622	Disease	p.Phe1122Leu	VAR_062802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062802	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1451	cd03278	30581135,NP_006297
8243	29336622	Disease	p.Phe1122Leu	VAR_062802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062802	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1224	pfam02463	30581135,NP_006297
8243	29336622	Disease	p.Phe1122Leu	VAR_062802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062802	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1294	COG1196	30581135,NP_006297
8243	29336622	Disease	p.Arg1123Trp	VAR_062803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062803	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1235	cd03227	30581135,NP_006297
8243	29336622	Disease	p.Arg1123Trp	VAR_062803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062803	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1289	cd03275	30581135,NP_006297
8243	29336622	Disease	p.Arg1123Trp	VAR_062803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062803	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1134	cd03239	30581135,NP_006297
8243	29336622	Disease	p.Arg1123Trp	VAR_062803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062803	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1452	cd03278	30581135,NP_006297
8243	29336622	Disease	p.Arg1123Trp	VAR_062803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062803	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1225	pfam02463	30581135,NP_006297
8243	29336622	Disease	p.Arg1123Trp	VAR_062803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062803	- Cornelia de Lange syndrome type 2 (CDLS2) [MIM:300590]	SWISS	1295	COG1196	30581135,NP_006297
6606	2498924	Disease	p.Ala2Gly	VAR_005615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005615	- Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550]	SWISS	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6606	2498924	Disease	p.Ala2Gly	VAR_005615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005615	- Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]	SWISS	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6606	2498924	Disease	p.Asp30Asn	VAR_034803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034803	- Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550]	SWISS	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6606	2498924	Disease	p.Asp44Val	VAR_034804	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034804	- Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]	SWISS	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6606	2498924	Disease	p.Gly95Arg	VAR_034805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034805	- Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]	SWISS	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6606	2498924	Disease	p.Ala111Gly	VAR_034806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034806	- Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550]	SWISS	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6606	2498924	Disease	p.Ile116Phe	VAR_034807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034807	- Spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300]	SWISS	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6606	2498924	Disease	p.Gln136Glu	VAR_034808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034808	- Spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300]	SWISS	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6606	2498924	Disease	p.Pro245Leu	VAR_010051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010051	- Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]	SWISS	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6606	2498924	Disease	p.Ser262Gly	VAR_034809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034809	- Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]	SWISS	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6606	2498924	Disease	p.Ser262Ile	VAR_005616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005616	- Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]	SWISS	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6606	2498924	Disease	p.Tyr272Cys	VAR_005617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005617	- Spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300]	SWISS	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6606	2498924	Disease	p.Thr274Ile	VAR_005618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005618	- Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550]	SWISS	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6606	2498924	Disease	p.Thr274Ile	VAR_005618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005618	- Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]	SWISS	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6606	2498924	Disease	p.Gly275Ser	VAR_005619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005619	- Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]	SWISS	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6606	2498924	Disease	p.Gly279Cys	VAR_007990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007990	- Spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550]	SWISS	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6606	2498924	Disease	p.Gly279Cys	VAR_007990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007990	- Spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]	SWISS	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6606	2498924	Disease	p.Gly279Val	VAR_005620	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005620	- Spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300]	SWISS	No Domain	N/A	10937869,NP_059107|4507091,NP_000335
6609	224471897	Disease	p.Asp49Val	VAR_060870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060870	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	No Domain	N/A	NULL
6609	224471897	Disease	p.Cys92Trp	VAR_060871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060871	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	7	smart00741	NULL
6609	224471897	Disease	p.Leu103Pro	VAR_060872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060872	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	18	smart00741	NULL
6609	224471897	Disease	p.Leu103Pro	VAR_060872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060872	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	18	smart00741	NULL
6609	224471897	Disease	p.Val130Ala	VAR_060873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060873	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	60	smart00741	NULL
6609	224471897	Disease	p.Leu137Pro	VAR_060874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060874	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	67	smart00741	NULL
6609	224471897	Disease	p.Cys157Arg	VAR_011387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011387	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	91	smart00741	NULL
6609	224471897	Disease	p.Gly166Arg	VAR_060875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060875	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	No Domain	N/A	NULL
6609	224471897	Disease	p.Ile176Asn	VAR_060876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060876	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	No Domain	N/A	NULL
6609	224471897	Disease	p.Ala196Pro	VAR_060878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060878	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	No Domain	N/A	NULL
6609	224471897	Disease	p.Arg200Cys	VAR_060879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060879	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	2	pfam00149	NULL
6609	224471897	Disease	p.Leu225Met	VAR_060880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060880	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	37	cd00842	NULL
6609	224471897	Disease	p.Leu225Met	VAR_060880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060880	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	27	pfam00149	NULL
6609	224471897	Disease	p.Leu225Met	VAR_060880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060880	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	24	cd00838	NULL
6609	224471897	Disease	p.Leu225Pro	VAR_060881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060881	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	37	cd00842	NULL
6609	224471897	Disease	p.Leu225Pro	VAR_060881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060881	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	27	pfam00149	NULL
6609	224471897	Disease	p.Leu225Pro	VAR_060881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060881	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	24	cd00838	NULL
6609	224471897	Disease	p.Arg228Cys	VAR_060882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060882	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	40	cd00842	NULL
6609	224471897	Disease	p.Arg228Cys	VAR_060882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060882	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	30	pfam00149	NULL
6609	224471897	Disease	p.Arg228Cys	VAR_060882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060882	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	27	cd00838	NULL
6609	224471897	Disease	p.Gly232Asp	VAR_060884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060884	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	44	cd00842	NULL
6609	224471897	Disease	p.Gly232Asp	VAR_060884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060884	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	34	pfam00149	NULL
6609	224471897	Disease	p.Gly232Asp	VAR_060884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060884	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	31	cd00838	NULL
6609	224471897	Disease	p.Gly242Arg	VAR_005058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005058	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	109	cd00842	NULL
6609	224471897	Disease	p.Gly242Arg	VAR_005058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005058	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	45	pfam00149	NULL
6609	224471897	Disease	p.Gly242Arg	VAR_005058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005058	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	56	cd00838	NULL
6609	224471897	Disease	p.Trp244Cys	VAR_060886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060886	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	111	cd00842	NULL
6609	224471897	Disease	p.Trp244Cys	VAR_060886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060886	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	47	pfam00149	NULL
6609	224471897	Disease	p.Trp244Cys	VAR_060886	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060886	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	58	cd00838	NULL
6609	224471897	Disease	p.Gly245Ser	VAR_060887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060887	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	112	cd00842	NULL
6609	224471897	Disease	p.Gly245Ser	VAR_060887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060887	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	48	pfam00149	NULL
6609	224471897	Disease	p.Gly245Ser	VAR_060887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060887	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	59	cd00838	NULL
6609	224471897	Disease	p.Gly245Ser	VAR_060887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060887	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	112	cd00842	NULL
6609	224471897	Disease	p.Gly245Ser	VAR_060887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060887	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	48	pfam00149	NULL
6609	224471897	Disease	p.Gly245Ser	VAR_060887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060887	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	59	cd00838	NULL
6609	224471897	Disease	p.Glu246Lys	VAR_060888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060888	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	113	cd00842	NULL
6609	224471897	Disease	p.Glu246Lys	VAR_060888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060888	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	49	pfam00149	NULL
6609	224471897	Disease	p.Glu246Lys	VAR_060888	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060888	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	60	cd00838	NULL
6609	224471897	Disease	p.Glu246Gln	VAR_005059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005059	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	113	cd00842	NULL
6609	224471897	Disease	p.Glu246Gln	VAR_005059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005059	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	49	pfam00149	NULL
6609	224471897	Disease	p.Glu246Gln	VAR_005059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005059	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	60	cd00838	NULL
6609	224471897	Disease	p.Ser248Arg	VAR_015287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015287	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	115	cd00842	NULL
6609	224471897	Disease	p.Ser248Arg	VAR_015287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015287	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	51	pfam00149	NULL
6609	224471897	Disease	p.Ser248Arg	VAR_015287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015287	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	62	cd00838	NULL
6609	224471897	Disease	p.Ser248Arg	VAR_015287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015287	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	115	cd00842	NULL
6609	224471897	Disease	p.Ser248Arg	VAR_015287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015287	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	51	pfam00149	NULL
6609	224471897	Disease	p.Ser248Arg	VAR_015287	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015287	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	62	cd00838	NULL
6609	224471897	Disease	p.Ala281Thr	VAR_060891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060891	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	158	cd00842	NULL
6609	224471897	Disease	p.Ala281Thr	VAR_060891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060891	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	86	pfam00149	NULL
6609	224471897	Disease	p.Ala281Thr	VAR_060891	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060891	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	95	cd00838	NULL
6609	224471897	Disease	p.Arg289His	VAR_060892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060892	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	166	cd00842	NULL
6609	224471897	Disease	p.Arg289His	VAR_060892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060892	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	94	pfam00149	NULL
6609	224471897	Disease	p.Arg289His	VAR_060892	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060892	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	103	cd00838	NULL
6609	224471897	Disease	p.Arg294Gln	VAR_060894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060894	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	171	cd00842	NULL
6609	224471897	Disease	p.Arg294Gln	VAR_060894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060894	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	99	pfam00149	NULL
6609	224471897	Disease	p.Arg294Gln	VAR_060894	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060894	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	108	cd00838	NULL
6609	224471897	Disease	p.Leu302Pro	VAR_005060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005060	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	207	cd00842	NULL
6609	224471897	Disease	p.Leu302Pro	VAR_005060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005060	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	167	pfam00149	NULL
6609	224471897	Disease	p.Leu302Pro	VAR_005060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005060	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	178	cd00838	NULL
6609	224471897	Disease	p.Tyr313His	VAR_060895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060895	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	218	cd00842	NULL
6609	224471897	Disease	p.Tyr313His	VAR_060895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060895	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	178	pfam00149	NULL
6609	224471897	Disease	p.Tyr313His	VAR_060895	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060895	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	189	cd00838	NULL
6609	224471897	Disease	p.His319Tyr	VAR_015288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015288	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	224	cd00842	NULL
6609	224471897	Disease	p.His319Tyr	VAR_015288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015288	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	184	pfam00149	NULL
6609	224471897	Disease	p.His319Tyr	VAR_015288	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015288	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	195	cd00838	NULL
6609	224471897	Disease	p.Pro323Ala	VAR_060896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060896	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	228	cd00842	NULL
6609	224471897	Disease	p.Pro323Ala	VAR_060896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060896	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	188	pfam00149	NULL
6609	224471897	Disease	p.Pro323Ala	VAR_060896	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060896	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	199	cd00838	NULL
6609	224471897	Disease	p.Pro330Arg	VAR_060897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060897	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	235	cd00842	NULL
6609	224471897	Disease	p.Pro330Arg	VAR_060897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060897	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	195	pfam00149	NULL
6609	224471897	Disease	p.Pro330Arg	VAR_060897	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060897	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	206	cd00838	NULL
6609	224471897	Disease	p.Ala357Asp	VAR_060899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060899	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	273	cd00842	NULL
6609	224471897	Disease	p.Ala357Asp	VAR_060899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060899	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	222	pfam00149	NULL
6609	224471897	Disease	p.Ala357Asp	VAR_060899	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060899	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	233	cd00838	NULL
6609	224471897	Disease	p.Tyr367Cys	VAR_060900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060900	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	297	cd00842	NULL
6609	224471897	Disease	p.Tyr367Cys	VAR_060900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060900	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	293	pfam00149	NULL
6609	224471897	Disease	p.Tyr367Cys	VAR_060900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060900	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	243	cd00838	NULL
6609	224471897	Disease	p.Pro371Ser	VAR_015289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015289	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	301	cd00842	NULL
6609	224471897	Disease	p.Pro371Ser	VAR_015289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015289	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	297	pfam00149	NULL
6609	224471897	Disease	p.Pro371Ser	VAR_015289	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015289	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	355	cd00838	NULL
6609	224471897	Disease	p.Arg376His	VAR_060901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060901	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	311	cd00842	NULL
6609	224471897	Disease	p.Arg376His	VAR_060901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060901	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	302	pfam00149	NULL
6609	224471897	Disease	p.Arg376His	VAR_060901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060901	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	360	cd00838	NULL
6609	224471897	Disease	p.Arg376Leu	VAR_060902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060902	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	311	cd00842	NULL
6609	224471897	Disease	p.Arg376Leu	VAR_060902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060902	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	302	pfam00149	NULL
6609	224471897	Disease	p.Arg376Leu	VAR_060902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060902	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	360	cd00838	NULL
6609	224471897	Disease	p.Ser379Pro	VAR_060903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060903	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	314	cd00842	NULL
6609	224471897	Disease	p.Ser379Pro	VAR_060903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060903	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	305	pfam00149	NULL
6609	224471897	Disease	p.Ser379Pro	VAR_060903	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060903	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	363	cd00838	NULL
6609	224471897	Disease	p.Met382Ile	VAR_005061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005061	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	317	cd00842	NULL
6609	224471897	Disease	p.Met382Ile	VAR_005061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005061	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	308	pfam00149	NULL
6609	224471897	Disease	p.Met382Ile	VAR_005061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005061	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	366	cd00838	NULL
6609	224471897	Disease	p.Asn383Ser	VAR_005062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005062	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	318	cd00842	NULL
6609	224471897	Disease	p.Asn383Ser	VAR_005062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005062	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	309	pfam00149	NULL
6609	224471897	Disease	p.Asn383Ser	VAR_005062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005062	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	367	cd00838	NULL
6609	224471897	Disease	p.Asn389Thr	VAR_005063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005063	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	324	cd00842	NULL
6609	224471897	Disease	p.Asn389Thr	VAR_005063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005063	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	315	pfam00149	NULL
6609	224471897	Disease	p.Asn389Thr	VAR_005063	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005063	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	373	cd00838	NULL
6609	224471897	Disease	p.Trp391Gly	VAR_005064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005064	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	326	cd00842	NULL
6609	224471897	Disease	p.Trp391Gly	VAR_005064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005064	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	317	pfam00149	NULL
6609	224471897	Disease	p.Trp391Gly	VAR_005064	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005064	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	375	cd00838	NULL
6609	224471897	Disease	p.Ala413Val	VAR_060905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060905	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	361	cd00842	NULL
6609	224471897	Disease	p.Ala413Val	VAR_060905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060905	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	339	pfam00149	NULL
6609	224471897	Disease	p.Ala413Val	VAR_060905	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060905	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	397	cd00838	NULL
6609	224471897	Disease	p.His421Arg	VAR_060906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060906	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	377	cd00842	NULL
6609	224471897	Disease	p.His421Arg	VAR_060906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060906	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	347	pfam00149	NULL
6609	224471897	Disease	p.His421Arg	VAR_060906	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060906	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	405	cd00838	NULL
6609	224471897	Disease	p.His421Tyr	VAR_015290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015290	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	377	cd00842	NULL
6609	224471897	Disease	p.His421Tyr	VAR_015290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015290	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	347	pfam00149	NULL
6609	224471897	Disease	p.His421Tyr	VAR_015290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015290	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	405	cd00838	NULL
6609	224471897	Disease	p.Cys431Arg	VAR_060907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060907	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	387	cd00842	NULL
6609	224471897	Disease	p.Cys431Arg	VAR_060907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060907	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	357	pfam00149	NULL
6609	224471897	Disease	p.Cys431Arg	VAR_060907	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060907	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	415	cd00838	NULL
6609	224471897	Disease	p.Leu432Pro	VAR_060908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060908	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	388	cd00842	NULL
6609	224471897	Disease	p.Leu432Pro	VAR_060908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060908	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	358	pfam00149	NULL
6609	224471897	Disease	p.Leu432Pro	VAR_060908	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060908	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	416	cd00838	NULL
6609	224471897	Disease	p.Trp435Cys	VAR_060909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060909	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	412	cd00842	NULL
6609	224471897	Disease	p.Trp435Cys	VAR_060909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060909	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	447	pfam00149	NULL
6609	224471897	Disease	p.Trp435Cys	VAR_060909	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060909	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	419	cd00838	NULL
6609	224471897	Disease	p.Ser436Arg	VAR_005065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005065	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	413	cd00842	NULL
6609	224471897	Disease	p.Ser436Arg	VAR_005065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005065	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	448	pfam00149	NULL
6609	224471897	Disease	p.Ser436Arg	VAR_005065	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005065	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	420	cd00838	NULL
6609	224471897	Disease	p.Tyr446Cys	VAR_011388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011388	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	423	cd00842	NULL
6609	224471897	Disease	p.Tyr446Cys	VAR_011388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011388	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	458	pfam00149	NULL
6609	224471897	Disease	p.Tyr446Cys	VAR_011388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011388	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	515	cd00838	NULL
6609	224471897	Disease	p.Leu450Pro	VAR_060910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060910	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	435	cd00842	NULL
6609	224471897	Disease	p.Leu450Pro	VAR_060910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060910	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	462	pfam00149	NULL
6609	224471897	Disease	p.Leu450Pro	VAR_060910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060910	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	519	cd00838	NULL
6609	224471897	Disease	p.Ala452Val	VAR_060911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060911	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	437	cd00842	NULL
6609	224471897	Disease	p.Ala452Val	VAR_060911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060911	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	464	pfam00149	NULL
6609	224471897	Disease	p.Ala452Val	VAR_060911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060911	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	521	cd00838	NULL
6609	224471897	Disease	p.Gly456Asp	VAR_060912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060912	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	441	cd00842	NULL
6609	224471897	Disease	p.Gly456Asp	VAR_060912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060912	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	468	pfam00149	NULL
6609	224471897	Disease	p.Gly456Asp	VAR_060912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060912	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	525	cd00838	NULL
6609	224471897	Disease	p.Phe463Ser	VAR_015291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015291	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	448	cd00842	NULL
6609	224471897	Disease	p.Phe463Ser	VAR_015291	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015291	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	532	cd00838	NULL
6609	224471897	Disease	p.Tyr467Ser	VAR_060913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060913	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	452	cd00842	NULL
6609	224471897	Disease	p.Tyr467Ser	VAR_060913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060913	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	536	cd00838	NULL
6609	224471897	Disease	p.Arg474Trp	VAR_060914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060914	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	560	cd00842	NULL
6609	224471897	Disease	p.Arg474Trp	VAR_060914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060914	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	543	cd00838	NULL
6609	224471897	Disease	p.Pro475Leu	VAR_015292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015292	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	561	cd00842	NULL
6609	224471897	Disease	p.Pro475Leu	VAR_015292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015292	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	544	cd00838	NULL
6609	224471897	Disease	p.Pro475Leu	VAR_015292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015292	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	561	cd00842	NULL
6609	224471897	Disease	p.Pro475Leu	VAR_015292	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015292	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	544	cd00838	NULL
6609	224471897	Disease	p.Phe480Leu	VAR_060915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060915	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	566	cd00842	NULL
6609	224471897	Disease	p.Phe480Leu	VAR_060915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060915	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	549	cd00838	NULL
6609	224471897	Disease	p.Ala482Glu	VAR_060916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060916	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	568	cd00842	NULL
6609	224471897	Disease	p.Ala482Glu	VAR_060916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060916	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	551	cd00838	NULL
6609	224471897	Disease	p.Ala485Val	VAR_060917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060917	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	571	cd00842	NULL
6609	224471897	Disease	p.Ala485Val	VAR_060917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060917	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	673	cd00838	NULL
6609	224471897	Disease	p.Thr486Ala	VAR_060918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060918	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	572	cd00842	NULL
6609	224471897	Disease	p.Thr486Ala	VAR_060918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060918	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	674	cd00838	NULL
6609	224471897	Disease	p.Tyr488Asn	VAR_060919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060919	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	574	cd00842	NULL
6609	224471897	Disease	p.Tyr488Asn	VAR_060919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060919	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	676	cd00838	NULL
6609	224471897	Disease	p.Gly494Ser	VAR_060920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060920	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	589	cd00842	NULL
6609	224471897	Disease	p.Arg496Cys	VAR_060921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060921	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	No Domain	N/A	NULL
6609	224471897	Disease	p.Arg496His	VAR_060922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060922	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	No Domain	N/A	NULL
6609	224471897	Disease	p.Arg496Leu	VAR_005066	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005066	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	No Domain	N/A	NULL
6609	224471897	Disease	p.His514Gln	VAR_060924	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060924	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	No Domain	N/A	NULL
6609	224471897	Disease	p.Glu515Val	VAR_060925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060925	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	No Domain	N/A	NULL
6609	224471897	Disease	p.Tyr517Cys	VAR_060926	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060926	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	No Domain	N/A	NULL
6609	224471897	Disease	p.Trp533Arg	VAR_060927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060927	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	No Domain	N/A	NULL
6609	224471897	Disease	p.Tyr537His	VAR_015293	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015293	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	No Domain	N/A	NULL
6609	224471897	Disease	p.Leu549Pro	VAR_060928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060928	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	No Domain	N/A	NULL
6609	224471897	Disease	p.Asp563Tyr	VAR_060929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060929	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	No Domain	N/A	NULL
6609	224471897	Disease	p.Lys576Asn	VAR_060930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060930	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	No Domain	N/A	NULL
6609	224471897	Disease	p.Gly577Ser	VAR_005067	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005067	- Niemann-Pick disease type A (NPDA) [MIM:257200]	SWISS	No Domain	N/A	NULL
6609	224471897	Disease	p.Arg600His	VAR_060932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060932	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	No Domain	N/A	NULL
6609	224471897	Disease	p.Arg600Pro	VAR_060933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060933	- Niemann-Pick disease type B (NPDB) [MIM:607616]	SWISS	No Domain	N/A	NULL
6622	586067	Disease	p.Ala30Pro	VAR_007957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007957	- Parkinson disease type 1 (PARK1) [MIM:168601]	SWISS	41	pfam01387	4507109,NP_000336|225690604,NP_001139527|225690602,NP_001139526
6622	586067	Disease	p.Glu46Lys	VAR_022703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022703	- Dementia Lewy body (DLB) [MIM:127750]	SWISS	57	pfam01387	4507109,NP_000336|225690604,NP_001139527|225690602,NP_001139526
6622	586067	Disease	p.Glu46Lys	VAR_022703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022703	- Parkinson disease type 1 (PARK1) [MIM:168601]	SWISS	57	pfam01387	4507109,NP_000336|225690604,NP_001139527|225690602,NP_001139526
6622	586067	Disease	p.Ala53Thr	VAR_007454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007454	- Parkinson disease type 1 (PARK1) [MIM:168601]	SWISS	64	pfam01387	4507109,NP_000336|225690604,NP_001139527|225690602,NP_001139526
9627	205831000	Disease	p.Arg621Cys	VAR_025667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025667	rs28937592 Parkinson disease (PARK) [MIM:168600]	SWISS	No Domain	N/A	76563940,NP_005451
23020	56405304	Disease	p.Ser1087Leu	VAR_063539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063539	- Retinitis pigmentosa type 33 (RP33) [MIM:610359]	SWISS	240	pfam02889	40217847,NP_054733
23020	56405304	Disease	p.Ser1087Leu	VAR_063539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063539	- Retinitis pigmentosa type 33 (RP33) [MIM:610359]	SWISS	853	COG1202	40217847,NP_054733
23020	56405304	Disease	p.Ser1087Leu	VAR_063539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063539	- Retinitis pigmentosa type 33 (RP33) [MIM:610359]	SWISS	156	smart00611	40217847,NP_054733
23020	56405304	Disease	p.Ser1087Leu	VAR_063539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063539	- Retinitis pigmentosa type 33 (RP33) [MIM:610359]	SWISS	1243	COG1204	40217847,NP_054733
23020	56405304	Disease	p.Arg1090Leu	VAR_063540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063540	- Retinitis pigmentosa type 33 (RP33) [MIM:610359]	SWISS	244	pfam02889	40217847,NP_054733
23020	56405304	Disease	p.Arg1090Leu	VAR_063540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063540	- Retinitis pigmentosa type 33 (RP33) [MIM:610359]	SWISS	856	COG1202	40217847,NP_054733
23020	56405304	Disease	p.Arg1090Leu	VAR_063540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063540	- Retinitis pigmentosa type 33 (RP33) [MIM:610359]	SWISS	159	smart00611	40217847,NP_054733
23020	56405304	Disease	p.Arg1090Leu	VAR_063540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063540	- Retinitis pigmentosa type 33 (RP33) [MIM:610359]	SWISS	1246	COG1204	40217847,NP_054733
6640	23822157	Disease	p.Ala257Gly	VAR_062399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062399	- Long QT syndrome type 12 (LQT12) [MIM:612955]	SWISS	917	smart00233	4507137,NP_003089
6640	23822157	Disease	p.Ala390Val	VAR_062400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062400	- Long QT syndrome type 12 (LQT12) [MIM:612955]	SWISS	286	pfam00169	4507137,NP_003089
6640	23822157	Disease	p.Ala390Val	VAR_062400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062400	- Long QT syndrome type 12 (LQT12) [MIM:612955]	SWISS	155	cd01258	4507137,NP_003089
6647	134611	Disease	p.Ala5Ser	VAR_013518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013518	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	10	COG2032	4507149,NP_000445
6647	134611	Disease	p.Ala5Ser	VAR_013518	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013518	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	3	cd00305	4507149,NP_000445
6647	134611	Disease	p.Ala5Thr	VAR_007130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007130	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	10	COG2032	4507149,NP_000445
6647	134611	Disease	p.Ala5Thr	VAR_007130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007130	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	3	cd00305	4507149,NP_000445
6647	134611	Disease	p.Ala5Val	VAR_007131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007131	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	10	COG2032	4507149,NP_000445
6647	134611	Disease	p.Ala5Val	VAR_007131	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007131	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	3	cd00305	4507149,NP_000445
6647	134611	Disease	p.Cys7Phe	VAR_008717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008717	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	12	COG2032	4507149,NP_000445
6647	134611	Disease	p.Cys7Phe	VAR_008717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008717	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	5	cd00305	4507149,NP_000445
6647	134611	Disease	p.Cys7Phe	VAR_008717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008717	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	3	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Val8Glu	VAR_007132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007132	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	55	COG2032	4507149,NP_000445
6647	134611	Disease	p.Val8Glu	VAR_007132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007132	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	6	cd00305	4507149,NP_000445
6647	134611	Disease	p.Val8Glu	VAR_007132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007132	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	4	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Leu9Gln	VAR_013519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013519	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	56	COG2032	4507149,NP_000445
6647	134611	Disease	p.Leu9Gln	VAR_013519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013519	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	7	cd00305	4507149,NP_000445
6647	134611	Disease	p.Leu9Gln	VAR_013519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013519	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	5	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Leu9Val	VAR_013520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013520	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	56	COG2032	4507149,NP_000445
6647	134611	Disease	p.Leu9Val	VAR_013520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013520	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	7	cd00305	4507149,NP_000445
6647	134611	Disease	p.Leu9Val	VAR_013520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013520	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	5	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly13Arg	VAR_013521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013521	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	60	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly13Arg	VAR_013521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013521	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	11	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly13Arg	VAR_013521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013521	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	33	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Val15Gly	VAR_013522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013522	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	63	COG2032	4507149,NP_000445
6647	134611	Disease	p.Val15Gly	VAR_013522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013522	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	23	cd00305	4507149,NP_000445
6647	134611	Disease	p.Val15Gly	VAR_013522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013522	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	39	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Val15Met	VAR_007133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007133	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	63	COG2032	4507149,NP_000445
6647	134611	Disease	p.Val15Met	VAR_007133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007133	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	23	cd00305	4507149,NP_000445
6647	134611	Disease	p.Val15Met	VAR_007133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007133	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	39	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly17Ser	VAR_007134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007134	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	65	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly17Ser	VAR_007134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007134	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	25	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly17Ser	VAR_007134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007134	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	45	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Phe21Cys	VAR_045876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045876	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	67	COG2032	4507149,NP_000445
6647	134611	Disease	p.Phe21Cys	VAR_045876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045876	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	29	cd00305	4507149,NP_000445
6647	134611	Disease	p.Phe21Cys	VAR_045876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045876	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	49	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Glu22Gly	VAR_013523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013523	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	68	COG2032	4507149,NP_000445
6647	134611	Disease	p.Glu22Gly	VAR_013523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013523	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	30	cd00305	4507149,NP_000445
6647	134611	Disease	p.Glu22Gly	VAR_013523	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013523	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	51	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Glu22Lys	VAR_007135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007135	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	68	COG2032	4507149,NP_000445
6647	134611	Disease	p.Glu22Lys	VAR_007135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007135	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	30	cd00305	4507149,NP_000445
6647	134611	Disease	p.Glu22Lys	VAR_007135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007135	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	51	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gln23Leu	VAR_045877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045877	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	69	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gln23Leu	VAR_045877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045877	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	31	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gln23Leu	VAR_045877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045877	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	53	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly38Arg	VAR_007136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007136	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	90	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly38Arg	VAR_007136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007136	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	48	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly38Arg	VAR_007136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007136	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	86	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Leu39Arg	VAR_013524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013524	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	91	COG2032	4507149,NP_000445
6647	134611	Disease	p.Leu39Arg	VAR_013524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013524	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	49	cd00305	4507149,NP_000445
6647	134611	Disease	p.Leu39Arg	VAR_013524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013524	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	90	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Leu39Val	VAR_007137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007137	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	91	COG2032	4507149,NP_000445
6647	134611	Disease	p.Leu39Val	VAR_007137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007137	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	49	cd00305	4507149,NP_000445
6647	134611	Disease	p.Leu39Val	VAR_007137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007137	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	90	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly42Asp	VAR_007139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007139	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	94	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly42Asp	VAR_007139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007139	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	63	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly42Asp	VAR_007139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007139	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	121	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly42Ser	VAR_007138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007138	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	94	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly42Ser	VAR_007138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007138	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	63	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly42Ser	VAR_007138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007138	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	121	pfam00080	4507149,NP_000445
6647	134611	Disease	p.His44Arg	VAR_007140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007140	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	97	COG2032	4507149,NP_000445
6647	134611	Disease	p.His44Arg	VAR_007140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007140	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	65	cd00305	4507149,NP_000445
6647	134611	Disease	p.His44Arg	VAR_007140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007140	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	126	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Phe46Cys	VAR_013525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013525	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	99	COG2032	4507149,NP_000445
6647	134611	Disease	p.Phe46Cys	VAR_013525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013525	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	67	cd00305	4507149,NP_000445
6647	134611	Disease	p.Phe46Cys	VAR_013525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013525	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	132	pfam00080	4507149,NP_000445
6647	134611	Disease	p.His47Arg	VAR_007141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007141	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	100	COG2032	4507149,NP_000445
6647	134611	Disease	p.His47Arg	VAR_007141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007141	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	68	cd00305	4507149,NP_000445
6647	134611	Disease	p.His47Arg	VAR_007141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007141	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	133	pfam00080	4507149,NP_000445
6647	134611	Disease	p.His49Gln	VAR_007142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007142	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	102	COG2032	4507149,NP_000445
6647	134611	Disease	p.His49Gln	VAR_007142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007142	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	70	cd00305	4507149,NP_000445
6647	134611	Disease	p.His49Gln	VAR_007142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007142	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	135	pfam00080	4507149,NP_000445
6647	134611	Disease	p.His49Arg	VAR_045878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045878	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	102	COG2032	4507149,NP_000445
6647	134611	Disease	p.His49Arg	VAR_045878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045878	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	70	cd00305	4507149,NP_000445
6647	134611	Disease	p.His49Arg	VAR_045878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045878	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	135	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Glu50Lys	VAR_013526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013526	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	103	COG2032	4507149,NP_000445
6647	134611	Disease	p.Glu50Lys	VAR_013526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013526	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	71	cd00305	4507149,NP_000445
6647	134611	Disease	p.Glu50Lys	VAR_013526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013526	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	136	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Thr55Arg	VAR_045879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045879	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	108	COG2032	4507149,NP_000445
6647	134611	Disease	p.Thr55Arg	VAR_045879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045879	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	76	cd00305	4507149,NP_000445
6647	134611	Disease	p.Thr55Arg	VAR_045879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045879	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	149	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Asn66Ser	VAR_013527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013527	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	130	COG2032	4507149,NP_000445
6647	134611	Disease	p.Asn66Ser	VAR_013527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013527	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	97	cd00305	4507149,NP_000445
6647	134611	Disease	p.Asn66Ser	VAR_013527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013527	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	196	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Leu68Arg	VAR_013528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013528	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	133	COG2032	4507149,NP_000445
6647	134611	Disease	p.Leu68Arg	VAR_013528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013528	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	99	cd00305	4507149,NP_000445
6647	134611	Disease	p.Leu68Arg	VAR_013528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013528	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	201	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly73Ser	VAR_008718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008718	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	139	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly73Ser	VAR_008718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008718	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	110	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly73Ser	VAR_008718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008718	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	211	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Asp77Tyr	VAR_013529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013529	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	143	COG2032	4507149,NP_000445
6647	134611	Disease	p.Asp77Tyr	VAR_013529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013529	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	114	cd00305	4507149,NP_000445
6647	134611	Disease	p.Asp77Tyr	VAR_013529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013529	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	232	pfam00080	4507149,NP_000445
6647	134611	Disease	p.His81Ala	VAR_016874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016874	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	149	COG2032	4507149,NP_000445
6647	134611	Disease	p.His81Ala	VAR_016874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016874	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	120	cd00305	4507149,NP_000445
6647	134611	Disease	p.His81Ala	VAR_016874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016874	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	237	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Leu85Phe	VAR_013530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013530	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	153	COG2032	4507149,NP_000445
6647	134611	Disease	p.Leu85Phe	VAR_013530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013530	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	124	cd00305	4507149,NP_000445
6647	134611	Disease	p.Leu85Phe	VAR_013530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013530	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	241	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Leu85Val	VAR_007143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007143	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	153	COG2032	4507149,NP_000445
6647	134611	Disease	p.Leu85Val	VAR_007143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007143	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	124	cd00305	4507149,NP_000445
6647	134611	Disease	p.Leu85Val	VAR_007143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007143	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	241	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly86Arg	VAR_007144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007144	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	154	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly86Arg	VAR_007144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007144	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	125	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly86Arg	VAR_007144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007144	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	246	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Asn87Ser	VAR_013531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013531	rs11556620 Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	155	COG2032	4507149,NP_000445
6647	134611	Disease	p.Asn87Ser	VAR_013531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013531	rs11556620 Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	126	cd00305	4507149,NP_000445
6647	134611	Disease	p.Asn87Ser	VAR_013531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013531	rs11556620 Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	247	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Val88Ala	VAR_045880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045880	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	156	COG2032	4507149,NP_000445
6647	134611	Disease	p.Val88Ala	VAR_045880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045880	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	127	cd00305	4507149,NP_000445
6647	134611	Disease	p.Val88Ala	VAR_045880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045880	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	248	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Ala90Thr	VAR_045881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045881	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	158	COG2032	4507149,NP_000445
6647	134611	Disease	p.Ala90Thr	VAR_045881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045881	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	135	cd00305	4507149,NP_000445
6647	134611	Disease	p.Ala90Thr	VAR_045881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045881	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	253	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Ala90Val	VAR_013532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013532	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	158	COG2032	4507149,NP_000445
6647	134611	Disease	p.Ala90Val	VAR_013532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013532	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	135	cd00305	4507149,NP_000445
6647	134611	Disease	p.Ala90Val	VAR_013532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013532	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	253	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Asp91Ala	VAR_007145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007145	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	159	COG2032	4507149,NP_000445
6647	134611	Disease	p.Asp91Ala	VAR_007145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007145	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	136	cd00305	4507149,NP_000445
6647	134611	Disease	p.Asp91Ala	VAR_007145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007145	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	254	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Asp91Val	VAR_013533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013533	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	159	COG2032	4507149,NP_000445
6647	134611	Disease	p.Asp91Val	VAR_013533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013533	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	136	cd00305	4507149,NP_000445
6647	134611	Disease	p.Asp91Val	VAR_013533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013533	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	254	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly94Ala	VAR_007146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007146	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	162	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly94Ala	VAR_007146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007146	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	146	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly94Ala	VAR_007146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007146	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	257	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly94Cys	VAR_007147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007147	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	162	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly94Cys	VAR_007147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007147	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	146	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly94Cys	VAR_007147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007147	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	257	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly94Asp	VAR_007148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007148	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	162	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly94Asp	VAR_007148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007148	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	146	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly94Asp	VAR_007148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007148	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	257	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly94Arg	VAR_007149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007149	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	162	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly94Arg	VAR_007149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007149	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	146	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly94Arg	VAR_007149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007149	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	257	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly94Val	VAR_008719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008719	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	162	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly94Val	VAR_008719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008719	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	146	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly94Val	VAR_008719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008719	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	257	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Val98Met	VAR_045882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045882	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	166	COG2032	4507149,NP_000445
6647	134611	Disease	p.Val98Met	VAR_045882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045882	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	150	cd00305	4507149,NP_000445
6647	134611	Disease	p.Val98Met	VAR_045882	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045882	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	263	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Glu101Gly	VAR_007150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007150	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	169	COG2032	4507149,NP_000445
6647	134611	Disease	p.Glu101Gly	VAR_007150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007150	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	153	cd00305	4507149,NP_000445
6647	134611	Disease	p.Glu101Gly	VAR_007150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007150	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	267	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Glu101Lys	VAR_013534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013534	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	169	COG2032	4507149,NP_000445
6647	134611	Disease	p.Glu101Lys	VAR_013534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013534	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	153	cd00305	4507149,NP_000445
6647	134611	Disease	p.Glu101Lys	VAR_013534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013534	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	267	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Asp102Gly	VAR_007151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007151	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	170	COG2032	4507149,NP_000445
6647	134611	Disease	p.Asp102Gly	VAR_007151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007151	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	154	cd00305	4507149,NP_000445
6647	134611	Disease	p.Asp102Gly	VAR_007151	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007151	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	270	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Asp102Asn	VAR_007152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007152	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	170	COG2032	4507149,NP_000445
6647	134611	Disease	p.Asp102Asn	VAR_007152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007152	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	154	cd00305	4507149,NP_000445
6647	134611	Disease	p.Asp102Asn	VAR_007152	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007152	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	270	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Ile105Phe	VAR_008720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008720	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	173	COG2032	4507149,NP_000445
6647	134611	Disease	p.Ile105Phe	VAR_008720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008720	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	157	cd00305	4507149,NP_000445
6647	134611	Disease	p.Ile105Phe	VAR_008720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008720	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	274	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Ser106Leu	VAR_013535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013535	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	174	COG2032	4507149,NP_000445
6647	134611	Disease	p.Ser106Leu	VAR_013535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013535	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	158	cd00305	4507149,NP_000445
6647	134611	Disease	p.Ser106Leu	VAR_013535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013535	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	279	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Leu107Val	VAR_007153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007153	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	175	COG2032	4507149,NP_000445
6647	134611	Disease	p.Leu107Val	VAR_007153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007153	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	159	cd00305	4507149,NP_000445
6647	134611	Disease	p.Leu107Val	VAR_007153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007153	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	281	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly109Val	VAR_013536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013536	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	183	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly109Val	VAR_013536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013536	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	161	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly109Val	VAR_013536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013536	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	285	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Ile113Met	VAR_013537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013537	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	187	COG2032	4507149,NP_000445
6647	134611	Disease	p.Ile113Met	VAR_013537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013537	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	173	cd00305	4507149,NP_000445
6647	134611	Disease	p.Ile113Met	VAR_013537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013537	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	299	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Ile113Thr	VAR_007154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007154	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	187	COG2032	4507149,NP_000445
6647	134611	Disease	p.Ile113Thr	VAR_007154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007154	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	173	cd00305	4507149,NP_000445
6647	134611	Disease	p.Ile113Thr	VAR_007154	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007154	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	299	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Ile114Thr	VAR_007155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007155	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	188	COG2032	4507149,NP_000445
6647	134611	Disease	p.Ile114Thr	VAR_007155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007155	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	174	cd00305	4507149,NP_000445
6647	134611	Disease	p.Ile114Thr	VAR_007155	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007155	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	300	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly115Ala	VAR_013538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013538	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	189	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly115Ala	VAR_013538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013538	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	175	cd00305	4507149,NP_000445
6647	134611	Disease	p.Gly115Ala	VAR_013538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013538	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	305	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Arg116Gly	VAR_007156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007156	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	190	COG2032	4507149,NP_000445
6647	134611	Disease	p.Arg116Gly	VAR_007156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007156	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	176	cd00305	4507149,NP_000445
6647	134611	Disease	p.Arg116Gly	VAR_007156	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007156	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	307	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Val119Leu	VAR_045883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045883	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	193	COG2032	4507149,NP_000445
6647	134611	Disease	p.Val119Leu	VAR_045883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045883	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	179	cd00305	4507149,NP_000445
6647	134611	Disease	p.Val119Leu	VAR_045883	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045883	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	310	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Asp125Gly	VAR_045884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045884	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	199	COG2032	4507149,NP_000445
6647	134611	Disease	p.Asp125Gly	VAR_045884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045884	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	185	cd00305	4507149,NP_000445
6647	134611	Disease	p.Asp125Gly	VAR_045884	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045884	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	319	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Asp125Val	VAR_008722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008722	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	199	COG2032	4507149,NP_000445
6647	134611	Disease	p.Asp125Val	VAR_008722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008722	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	185	cd00305	4507149,NP_000445
6647	134611	Disease	p.Asp125Val	VAR_008722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008722	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	319	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Asp126His	VAR_007157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007157	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	200	COG2032	4507149,NP_000445
6647	134611	Disease	p.Asp126His	VAR_007157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007157	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	186	cd00305	4507149,NP_000445
6647	134611	Disease	p.Asp126His	VAR_007157	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007157	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	339	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Leu127Ser	VAR_013539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013539	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	201	COG2032	4507149,NP_000445
6647	134611	Disease	p.Leu127Ser	VAR_013539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013539	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	187	cd00305	4507149,NP_000445
6647	134611	Disease	p.Leu127Ser	VAR_013539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013539	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	346	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Ser135Asn	VAR_007158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007158	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	217	COG2032	4507149,NP_000445
6647	134611	Disease	p.Ser135Asn	VAR_007158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007158	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	195	cd00305	4507149,NP_000445
6647	134611	Disease	p.Ser135Asn	VAR_007158	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007158	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	373	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Asn140Lys	VAR_007159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007159	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	227	COG2032	4507149,NP_000445
6647	134611	Disease	p.Asn140Lys	VAR_007159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007159	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	200	cd00305	4507149,NP_000445
6647	134611	Disease	p.Asn140Lys	VAR_007159	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007159	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	382	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Leu145Phe	VAR_007160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007160	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	232	COG2032	4507149,NP_000445
6647	134611	Disease	p.Leu145Phe	VAR_007160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007160	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	205	cd00305	4507149,NP_000445
6647	134611	Disease	p.Leu145Phe	VAR_007160	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007160	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	387	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Leu145Ser	VAR_008724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008724	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	232	COG2032	4507149,NP_000445
6647	134611	Disease	p.Leu145Ser	VAR_008724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008724	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	205	cd00305	4507149,NP_000445
6647	134611	Disease	p.Leu145Ser	VAR_008724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008724	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	387	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Ala146Thr	VAR_008725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008725	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	233	COG2032	4507149,NP_000445
6647	134611	Disease	p.Ala146Thr	VAR_008725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008725	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	206	cd00305	4507149,NP_000445
6647	134611	Disease	p.Ala146Thr	VAR_008725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008725	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	388	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Cys147Arg	VAR_013540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013540	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	234	COG2032	4507149,NP_000445
6647	134611	Disease	p.Cys147Arg	VAR_013540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013540	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	389	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Gly148Arg	VAR_045885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045885	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	235	COG2032	4507149,NP_000445
6647	134611	Disease	p.Gly148Arg	VAR_045885	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045885	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	391	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Val149Gly	VAR_007161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007161	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	236	COG2032	4507149,NP_000445
6647	134611	Disease	p.Val149Gly	VAR_007161	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007161	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	392	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Val149Ile	VAR_007162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007162	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	236	COG2032	4507149,NP_000445
6647	134611	Disease	p.Val149Ile	VAR_007162	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007162	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	392	pfam00080	4507149,NP_000445
6647	134611	Disease	p.Ile150Thr	VAR_007163	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007163	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	237	COG2032	4507149,NP_000445
6647	134611	Disease	p.Ile152Thr	VAR_007164	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007164	- Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]	SWISS	No Domain	N/A	4507149,NP_000445
6654	6094322	Disease	p.Glu108Lys	VAR_030423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030423	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	12	pfam00125	15529996,NP_005624
6654	6094322	Disease	p.Thr266Lys	VAR_030424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030424	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	124	smart00325	15529996,NP_005624
6654	6094322	Disease	p.Thr266Lys	VAR_030424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030424	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	198	pfam00621	15529996,NP_005624
6654	6094322	Disease	p.Thr266Lys	VAR_030424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030424	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	77	cd00160	15529996,NP_005624
6654	6094322	Disease	p.Met269Arg	VAR_030425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030425	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	127	smart00325	15529996,NP_005624
6654	6094322	Disease	p.Met269Arg	VAR_030425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030425	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	246	pfam00621	15529996,NP_005624
6654	6094322	Disease	p.Met269Arg	VAR_030425	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030425	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	80	cd00160	15529996,NP_005624
6654	6094322	Disease	p.Asp309Tyr	VAR_030426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030426	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	229	smart00325	15529996,NP_005624
6654	6094322	Disease	p.Asp309Tyr	VAR_030426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030426	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	381	pfam00621	15529996,NP_005624
6654	6094322	Disease	p.Asp309Tyr	VAR_030426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030426	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	144	cd00160	15529996,NP_005624
6654	6094322	Disease	p.Tyr337Cys	VAR_030427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030427	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	267	smart00325	15529996,NP_005624
6654	6094322	Disease	p.Tyr337Cys	VAR_030427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030427	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	507	pfam00621	15529996,NP_005624
6654	6094322	Disease	p.Tyr337Cys	VAR_030427	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030427	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	182	cd00160	15529996,NP_005624
6654	6094322	Disease	p.Trp432Arg	VAR_030428	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030428	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	No Domain	N/A	15529996,NP_005624
6654	6094322	Disease	p.Glu433Lys	VAR_030429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030429	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	No Domain	N/A	15529996,NP_005624
6654	6094322	Disease	p.Gly434Arg	VAR_030430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030430	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	No Domain	N/A	15529996,NP_005624
6654	6094322	Disease	p.Cys441Tyr	VAR_030431	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030431	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	No Domain	N/A	15529996,NP_005624
6654	6094322	Disease	p.Ser548Arg	VAR_030432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030432	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	No Domain	N/A	15529996,NP_005624
6654	6094322	Disease	p.Leu550Pro	VAR_030433	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030433	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	No Domain	N/A	15529996,NP_005624
6654	6094322	Disease	p.Arg552Gly	VAR_030434	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030434	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	No Domain	N/A	15529996,NP_005624
6654	6094322	Disease	p.Arg552Lys	VAR_030435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030435	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	No Domain	N/A	15529996,NP_005624
6654	6094322	Disease	p.Arg552Ser	VAR_030436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030436	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	No Domain	N/A	15529996,NP_005624
6654	6094322	Disease	p.Tyr702His	VAR_030438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030438	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	326	cd06224	15529996,NP_005624
6654	6094322	Disease	p.Tyr702His	VAR_030438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030438	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	206	smart00229	15529996,NP_005624
6654	6094322	Disease	p.Tyr702His	VAR_030438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030438	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	450	pfam00618	15529996,NP_005624
6654	6094322	Disease	p.Trp729Leu	VAR_030439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030439	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	387	cd06224	15529996,NP_005624
6654	6094322	Disease	p.Trp729Leu	VAR_030439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030439	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	241	smart00229	15529996,NP_005624
6654	6094322	Disease	p.Ile733Phe	VAR_030440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030440	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	391	cd06224	15529996,NP_005624
6654	6094322	Disease	p.Ile733Phe	VAR_030440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030440	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	245	smart00229	15529996,NP_005624
6654	6094322	Disease	p.Glu846Lys	VAR_030441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030441	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	277	pfam00617	15529996,NP_005624
6654	6094322	Disease	p.Glu846Lys	VAR_030441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030441	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	99	smart00147	15529996,NP_005624
6654	6094322	Disease	p.Glu846Lys	VAR_030441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030441	- Noonan syndrome type 4 (NS4) [MIM:610733]	SWISS	98	cd00155	15529996,NP_005624
6663	6175075	Disease	p.Ser135Thr	VAR_021386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021386	- Yemenite deaf-blind hypopigmentation syndrome (YDBHS) [MIM:601706]	SWISS	34	pfam00505	5902104,NP_008872
6663	6175075	Disease	p.Ser135Thr	VAR_021386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021386	- Yemenite deaf-blind hypopigmentation syndrome (YDBHS) [MIM:601706]	SWISS	46	cd00084	5902104,NP_008872
6663	6175075	Disease	p.Ser135Thr	VAR_021386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021386	- Yemenite deaf-blind hypopigmentation syndrome (YDBHS) [MIM:601706]	SWISS	43	cd01390	5902104,NP_008872
6663	6175075	Disease	p.Ser135Thr	VAR_021386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021386	- Yemenite deaf-blind hypopigmentation syndrome (YDBHS) [MIM:601706]	SWISS	52	smart00398	5902104,NP_008872
6663	6175075	Disease	p.Ser135Thr	VAR_021386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021386	- Yemenite deaf-blind hypopigmentation syndrome (YDBHS) [MIM:601706]	SWISS	35	cd01388	5902104,NP_008872
6663	6175075	Disease	p.Ser135Thr	VAR_021386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021386	- Yemenite deaf-blind hypopigmentation syndrome (YDBHS) [MIM:601706]	SWISS	42	cd01389	5902104,NP_008872
54345	12644232	Disease	p.Trp95Arg	VAR_016210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016210	rs28936693 Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]	SWISS	12	cd01388	8924248,NP_060889
54345	12644232	Disease	p.Trp95Arg	VAR_016210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016210	rs28936693 Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]	SWISS	12	cd01389	8924248,NP_060889
54345	12644232	Disease	p.Trp95Arg	VAR_016210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016210	rs28936693 Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]	SWISS	12	smart00398	8924248,NP_060889
54345	12644232	Disease	p.Trp95Arg	VAR_016210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016210	rs28936693 Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]	SWISS	11	pfam00505	8924248,NP_060889
54345	12644232	Disease	p.Trp95Arg	VAR_016210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016210	rs28936693 Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]	SWISS	11	cd00084	8924248,NP_060889
54345	12644232	Disease	p.Trp95Arg	VAR_016210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016210	rs28936693 Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]	SWISS	11	cd01390	8924248,NP_060889
54345	12644232	Disease	p.Ala104Pro	VAR_016211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016211	rs28936692 Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]	SWISS	21	cd01388	8924248,NP_060889
54345	12644232	Disease	p.Ala104Pro	VAR_016211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016211	rs28936692 Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]	SWISS	21	cd01389	8924248,NP_060889
54345	12644232	Disease	p.Ala104Pro	VAR_016211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016211	rs28936692 Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]	SWISS	21	smart00398	8924248,NP_060889
54345	12644232	Disease	p.Ala104Pro	VAR_016211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016211	rs28936692 Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]	SWISS	20	pfam00505	8924248,NP_060889
54345	12644232	Disease	p.Ala104Pro	VAR_016211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016211	rs28936692 Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]	SWISS	20	cd00084	8924248,NP_060889
54345	12644232	Disease	p.Ala104Pro	VAR_016211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016211	rs28936692 Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]	SWISS	20	cd01390	8924248,NP_060889
6662	1351096	Disease	p.Ala76Glu	VAR_063642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063642	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	107	pfam12444	4557853,NP_000337
6662	1351096	Disease	p.Pro108Leu	VAR_003735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003735	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	5	cd01389	4557853,NP_000337
6662	1351096	Disease	p.Pro108Leu	VAR_003735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003735	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	5	smart00398	4557853,NP_000337
6662	1351096	Disease	p.Pro108Leu	VAR_003735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003735	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	5	cd01388	4557853,NP_000337
6662	1351096	Disease	p.Pro108Leu	VAR_003735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003735	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	4	cd01390	4557853,NP_000337
6662	1351096	Disease	p.Pro108Leu	VAR_003735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003735	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	4	cd00084	4557853,NP_000337
6662	1351096	Disease	p.Pro108Leu	VAR_003735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003735	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	4	pfam00505	4557853,NP_000337
6662	1351096	Disease	p.Phe112Leu	VAR_003736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003736	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	9	cd01389	4557853,NP_000337
6662	1351096	Disease	p.Phe112Leu	VAR_003736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003736	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	9	smart00398	4557853,NP_000337
6662	1351096	Disease	p.Phe112Leu	VAR_003736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003736	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	9	cd01388	4557853,NP_000337
6662	1351096	Disease	p.Phe112Leu	VAR_003736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003736	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	8	cd01390	4557853,NP_000337
6662	1351096	Disease	p.Phe112Leu	VAR_003736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003736	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	8	cd00084	4557853,NP_000337
6662	1351096	Disease	p.Phe112Leu	VAR_003736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003736	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	8	pfam00505	4557853,NP_000337
6662	1351096	Disease	p.Phe112Ser	VAR_003737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003737	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	9	cd01389	4557853,NP_000337
6662	1351096	Disease	p.Phe112Ser	VAR_003737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003737	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	9	smart00398	4557853,NP_000337
6662	1351096	Disease	p.Phe112Ser	VAR_003737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003737	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	9	cd01388	4557853,NP_000337
6662	1351096	Disease	p.Phe112Ser	VAR_003737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003737	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	8	cd01390	4557853,NP_000337
6662	1351096	Disease	p.Phe112Ser	VAR_003737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003737	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	8	cd00084	4557853,NP_000337
6662	1351096	Disease	p.Phe112Ser	VAR_003737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003737	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	8	pfam00505	4557853,NP_000337
6662	1351096	Disease	p.Met113Thr	VAR_063643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063643	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	10	cd01389	4557853,NP_000337
6662	1351096	Disease	p.Met113Thr	VAR_063643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063643	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	10	smart00398	4557853,NP_000337
6662	1351096	Disease	p.Met113Thr	VAR_063643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063643	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	10	cd01388	4557853,NP_000337
6662	1351096	Disease	p.Met113Thr	VAR_063643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063643	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	9	cd01390	4557853,NP_000337
6662	1351096	Disease	p.Met113Thr	VAR_063643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063643	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	9	cd00084	4557853,NP_000337
6662	1351096	Disease	p.Met113Thr	VAR_063643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063643	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	9	pfam00505	4557853,NP_000337
6662	1351096	Disease	p.Met113Val	VAR_063644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063644	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	10	cd01389	4557853,NP_000337
6662	1351096	Disease	p.Met113Val	VAR_063644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063644	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	10	smart00398	4557853,NP_000337
6662	1351096	Disease	p.Met113Val	VAR_063644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063644	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	10	cd01388	4557853,NP_000337
6662	1351096	Disease	p.Met113Val	VAR_063644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063644	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	9	cd01390	4557853,NP_000337
6662	1351096	Disease	p.Met113Val	VAR_063644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063644	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	9	cd00084	4557853,NP_000337
6662	1351096	Disease	p.Met113Val	VAR_063644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063644	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	9	pfam00505	4557853,NP_000337
6662	1351096	Disease	p.Ala119Val	VAR_003738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003738	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	16	cd01389	4557853,NP_000337
6662	1351096	Disease	p.Ala119Val	VAR_003738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003738	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	16	smart00398	4557853,NP_000337
6662	1351096	Disease	p.Ala119Val	VAR_003738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003738	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	16	cd01388	4557853,NP_000337
6662	1351096	Disease	p.Ala119Val	VAR_003738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003738	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	15	cd01390	4557853,NP_000337
6662	1351096	Disease	p.Ala119Val	VAR_003738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003738	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	15	cd00084	4557853,NP_000337
6662	1351096	Disease	p.Ala119Val	VAR_003738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003738	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	15	pfam00505	4557853,NP_000337
6662	1351096	Disease	p.Trp143Arg	VAR_003739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003739	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	49	cd01389	4557853,NP_000337
6662	1351096	Disease	p.Trp143Arg	VAR_003739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003739	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	59	smart00398	4557853,NP_000337
6662	1351096	Disease	p.Trp143Arg	VAR_003739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003739	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	42	cd01388	4557853,NP_000337
6662	1351096	Disease	p.Trp143Arg	VAR_003739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003739	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	50	cd01390	4557853,NP_000337
6662	1351096	Disease	p.Trp143Arg	VAR_003739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003739	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	53	cd00084	4557853,NP_000337
6662	1351096	Disease	p.Trp143Arg	VAR_003739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003739	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	41	pfam00505	4557853,NP_000337
6662	1351096	Disease	p.Arg152Pro	VAR_003740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003740	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	59	cd01389	4557853,NP_000337
6662	1351096	Disease	p.Arg152Pro	VAR_003740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003740	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	69	smart00398	4557853,NP_000337
6662	1351096	Disease	p.Arg152Pro	VAR_003740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003740	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	51	cd01388	4557853,NP_000337
6662	1351096	Disease	p.Arg152Pro	VAR_003740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003740	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	59	cd01390	4557853,NP_000337
6662	1351096	Disease	p.Arg152Pro	VAR_003740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003740	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	66	cd00084	4557853,NP_000337
6662	1351096	Disease	p.Arg152Pro	VAR_003740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003740	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	50	pfam00505	4557853,NP_000337
6662	1351096	Disease	p.Phe154Leu	VAR_008529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008529	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	61	cd01389	4557853,NP_000337
6662	1351096	Disease	p.Phe154Leu	VAR_008529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008529	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	71	smart00398	4557853,NP_000337
6662	1351096	Disease	p.Phe154Leu	VAR_008529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008529	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	53	cd01388	4557853,NP_000337
6662	1351096	Disease	p.Phe154Leu	VAR_008529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008529	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	61	cd01390	4557853,NP_000337
6662	1351096	Disease	p.Phe154Leu	VAR_008529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008529	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	68	cd00084	4557853,NP_000337
6662	1351096	Disease	p.Phe154Leu	VAR_008529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008529	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	52	pfam00505	4557853,NP_000337
6662	1351096	Disease	p.Ala158Thr	VAR_008530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008530	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	65	cd01389	4557853,NP_000337
6662	1351096	Disease	p.Ala158Thr	VAR_008530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008530	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	75	smart00398	4557853,NP_000337
6662	1351096	Disease	p.Ala158Thr	VAR_008530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008530	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	57	cd01388	4557853,NP_000337
6662	1351096	Disease	p.Ala158Thr	VAR_008530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008530	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	65	cd01390	4557853,NP_000337
6662	1351096	Disease	p.Ala158Thr	VAR_008530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008530	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	72	cd00084	4557853,NP_000337
6662	1351096	Disease	p.Ala158Thr	VAR_008530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008530	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	56	pfam00505	4557853,NP_000337
6662	1351096	Disease	p.His165Gln	VAR_063645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063645	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	72	cd01389	4557853,NP_000337
6662	1351096	Disease	p.His165Gln	VAR_063645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063645	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	87	smart00398	4557853,NP_000337
6662	1351096	Disease	p.His165Gln	VAR_063645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063645	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	64	cd01388	4557853,NP_000337
6662	1351096	Disease	p.His165Gln	VAR_063645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063645	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	72	cd01390	4557853,NP_000337
6662	1351096	Disease	p.His165Gln	VAR_063645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063645	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	79	cd00084	4557853,NP_000337
6662	1351096	Disease	p.His165Gln	VAR_063645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063645	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	63	pfam00505	4557853,NP_000337
6662	1351096	Disease	p.His165Tyr	VAR_008531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008531	rs28940282 Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	72	cd01389	4557853,NP_000337
6662	1351096	Disease	p.His165Tyr	VAR_008531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008531	rs28940282 Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	87	smart00398	4557853,NP_000337
6662	1351096	Disease	p.His165Tyr	VAR_008531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008531	rs28940282 Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	64	cd01388	4557853,NP_000337
6662	1351096	Disease	p.His165Tyr	VAR_008531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008531	rs28940282 Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	72	cd01390	4557853,NP_000337
6662	1351096	Disease	p.His165Tyr	VAR_008531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008531	rs28940282 Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	79	cd00084	4557853,NP_000337
6662	1351096	Disease	p.His165Tyr	VAR_008531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008531	rs28940282 Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	63	pfam00505	4557853,NP_000337
6662	1351096	Disease	p.Pro170Leu	VAR_063646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063646	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	77	cd01389	4557853,NP_000337
6662	1351096	Disease	p.Pro170Leu	VAR_063646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063646	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	92	smart00398	4557853,NP_000337
6662	1351096	Disease	p.Pro170Leu	VAR_063646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063646	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	69	cd01388	4557853,NP_000337
6662	1351096	Disease	p.Pro170Leu	VAR_063646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063646	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	68	pfam00505	4557853,NP_000337
6662	1351096	Disease	p.Pro170Arg	VAR_003741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003741	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	77	cd01389	4557853,NP_000337
6662	1351096	Disease	p.Pro170Arg	VAR_003741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003741	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	92	smart00398	4557853,NP_000337
6662	1351096	Disease	p.Pro170Arg	VAR_003741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003741	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	69	cd01388	4557853,NP_000337
6662	1351096	Disease	p.Pro170Arg	VAR_003741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003741	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	68	pfam00505	4557853,NP_000337
6662	1351096	Disease	p.Lys173Glu	VAR_063647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063647	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	80	cd01389	4557853,NP_000337
6662	1351096	Disease	p.Lys173Glu	VAR_063647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063647	- Campomelic dysplasia (CMD1) [MIM:114290]	SWISS	72	cd01388	4557853,NP_000337
6683	12230611	Disease	p.Leu195Val	VAR_026758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026758	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	76	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Leu195Val	VAR_026758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026758	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	4	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Leu195Val	VAR_026758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026758	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	155	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Ile344Lys	VAR_019448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019448	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	266	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Ile344Lys	VAR_019448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019448	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	201	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Ile344Lys	VAR_019448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019448	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	432	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Ile344Lys	VAR_019448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019448	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	132	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Gln347Lys	VAR_027206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027206	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	269	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Gln347Lys	VAR_027206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027206	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	204	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Gln347Lys	VAR_027206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027206	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	439	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Gln347Lys	VAR_027206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027206	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	3	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Gln347Lys	VAR_027206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027206	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	135	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Pro361Leu	VAR_027207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027207	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	282_G	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Pro361Leu	VAR_027207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027207	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	218	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Pro361Leu	VAR_027207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027207	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	453	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Pro361Leu	VAR_027207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027207	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	17	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Pro361Leu	VAR_027207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027207	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	147	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Ser362Cys	VAR_010195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010195	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	282_G	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Ser362Cys	VAR_010195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010195	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	219	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Ser362Cys	VAR_010195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010195	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	454	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Ser362Cys	VAR_010195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010195	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	18	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Ser362Cys	VAR_010195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010195	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	148	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Gly370Arg	VAR_027208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027208	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	291	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Gly370Arg	VAR_027208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027208	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	229	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Gly370Arg	VAR_027208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027208	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	464	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Gly370Arg	VAR_027208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027208	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	78	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Gly370Arg	VAR_027208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027208	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	156	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Leu378Gln	VAR_019439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019439	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	301	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Leu378Gln	VAR_019439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019439	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	5	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Leu378Gln	VAR_019439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019439	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	236	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Leu378Gln	VAR_019439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019439	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	2	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Leu378Gln	VAR_019439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019439	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	489	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Leu378Gln	VAR_019439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019439	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	86	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Leu378Gln	VAR_019439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019439	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	163	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Phe381Cys	VAR_027209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027209	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	304	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Phe381Cys	VAR_027209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027209	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	8	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Phe381Cys	VAR_027209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027209	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	239	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Phe381Cys	VAR_027209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027209	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	5	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Phe381Cys	VAR_027209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027209	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	492	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Phe381Cys	VAR_027209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027209	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	89	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Phe381Cys	VAR_027209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027209	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	166	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Phe381Cys	VAR_027209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027209	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	4	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Asn386Lys	VAR_027210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027210	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	312	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Asn386Lys	VAR_027210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027210	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	15	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Asn386Lys	VAR_027210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027210	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	244	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Asn386Lys	VAR_027210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027210	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	10	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Asn386Lys	VAR_027210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027210	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	497	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Asn386Lys	VAR_027210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027210	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	94	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Asn386Lys	VAR_027210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027210	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	171	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Asn386Lys	VAR_027210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027210	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	9	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Asn386Ser	VAR_019440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019440	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	312	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Asn386Ser	VAR_019440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019440	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	15	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Asn386Ser	VAR_019440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019440	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	244	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Asn386Ser	VAR_019440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019440	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	10	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Asn386Ser	VAR_019440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019440	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	497	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Asn386Ser	VAR_019440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019440	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	94	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Asn386Ser	VAR_019440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019440	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	171	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Asn386Ser	VAR_019440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019440	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	9	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Lys388Arg	VAR_027211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027211	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	314	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Lys388Arg	VAR_027211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027211	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	17	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Lys388Arg	VAR_027211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027211	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	246	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Lys388Arg	VAR_027211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027211	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	12	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Lys388Arg	VAR_027211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027211	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	499	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Lys388Arg	VAR_027211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027211	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	96	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Lys388Arg	VAR_027211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027211	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	173	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Lys388Arg	VAR_027211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027211	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	11	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Met390Val	VAR_019441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019441	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	316	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Met390Val	VAR_019441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019441	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	19	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Met390Val	VAR_019441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019441	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	248	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Met390Val	VAR_019441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019441	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	14	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Met390Val	VAR_019441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019441	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	501	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Met390Val	VAR_019441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019441	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	98	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Met390Val	VAR_019441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019441	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	175	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Met390Val	VAR_019441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019441	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	13	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Ser399Leu	VAR_027212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027212	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	325	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Ser399Leu	VAR_027212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027212	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	29	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Ser399Leu	VAR_027212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027212	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	257	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Ser399Leu	VAR_027212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027212	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	23	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Ser399Leu	VAR_027212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027212	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	525	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Ser399Leu	VAR_027212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027212	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	107	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Ser399Leu	VAR_027212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027212	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	184	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Ser399Leu	VAR_027212	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027212	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	37	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Ile406Val	VAR_026759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026759	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	332	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Ile406Val	VAR_026759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026759	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	75	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Ile406Val	VAR_026759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026759	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	264	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Ile406Val	VAR_026759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026759	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	41	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Ile406Val	VAR_026759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026759	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	532	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Ile406Val	VAR_026759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026759	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	176	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Ile406Val	VAR_026759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026759	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	191	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Ile406Val	VAR_026759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026759	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	73	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Ser407Arg	VAR_019450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019450	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	333	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Ser407Arg	VAR_019450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019450	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	76	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Ser407Arg	VAR_019450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019450	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	265	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Ser407Arg	VAR_019450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019450	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	42	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Ser407Arg	VAR_019450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019450	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	533	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Ser407Arg	VAR_019450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019450	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	177	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Ser407Arg	VAR_019450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019450	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	192	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Ser407Arg	VAR_019450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019450	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	74	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Arg424Gly	VAR_010196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010196	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	350	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Arg424Gly	VAR_010196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010196	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	255	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Arg424Gly	VAR_010196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010196	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	282	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Arg424Gly	VAR_010196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010196	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	65	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Arg424Gly	VAR_010196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010196	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	552	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Arg424Gly	VAR_010196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010196	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	355	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Arg424Gly	VAR_010196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010196	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	209	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Arg424Gly	VAR_010196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010196	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	107	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Leu426Val	VAR_027213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027213	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	352	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Leu426Val	VAR_027213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027213	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	258	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Leu426Val	VAR_027213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027213	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	284	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Leu426Val	VAR_027213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027213	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	67	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Leu426Val	VAR_027213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027213	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	554	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Leu426Val	VAR_027213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027213	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	357	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Leu426Val	VAR_027213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027213	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	211	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Leu426Val	VAR_027213	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027213	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	109	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Pro435Leu	VAR_027214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027214	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	361	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Pro435Leu	VAR_027214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027214	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	306	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Pro435Leu	VAR_027214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027214	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	293	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Pro435Leu	VAR_027214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027214	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	87	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Pro435Leu	VAR_027214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027214	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	571	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Pro435Leu	VAR_027214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027214	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	366	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Pro435Leu	VAR_027214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027214	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	220	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Pro435Leu	VAR_027214	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027214	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	130	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Ser436Phe	VAR_027215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027215	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	363	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Ser436Phe	VAR_027215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027215	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	307	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Ser436Phe	VAR_027215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027215	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	294	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Ser436Phe	VAR_027215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027215	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	88	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Ser436Phe	VAR_027215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027215	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	572	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Ser436Phe	VAR_027215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027215	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	367	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Ser436Phe	VAR_027215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027215	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	221	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Ser436Phe	VAR_027215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027215	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	132	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Asp441Gly	VAR_027216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027216	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	368	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Asp441Gly	VAR_027216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027216	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	314	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Asp441Gly	VAR_027216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027216	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	299	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Asp441Gly	VAR_027216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027216	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	93	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Asp441Gly	VAR_027216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027216	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	577	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Asp441Gly	VAR_027216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027216	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	372	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Asp441Gly	VAR_027216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027216	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	226	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Asp441Gly	VAR_027216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027216	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	137	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Cys448Tyr	VAR_010197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010197	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	375	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Cys448Tyr	VAR_010197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010197	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	322	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Cys448Tyr	VAR_010197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010197	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	306	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Cys448Tyr	VAR_010197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010197	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	112	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Cys448Tyr	VAR_010197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010197	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	584	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Cys448Tyr	VAR_010197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010197	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	379	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Cys448Tyr	VAR_010197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010197	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	233	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Cys448Tyr	VAR_010197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010197	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	144	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Arg459Gly	VAR_027217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027217	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	391	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Arg459Gly	VAR_027217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027217	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	359	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Arg459Gly	VAR_027217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027217	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	318	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Arg459Gly	VAR_027217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027217	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	123	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Arg459Gly	VAR_027217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027217	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	991	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Arg459Gly	VAR_027217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027217	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	397	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Arg459Gly	VAR_027217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027217	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	245_G	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Arg459Gly	VAR_027217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027217	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	166	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Arg460Cys	VAR_027218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027218	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	392	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Arg460Cys	VAR_027218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027218	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	360	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Arg460Cys	VAR_027218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027218	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	322	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Arg460Cys	VAR_027218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027218	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	124	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Arg460Cys	VAR_027218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027218	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	992	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Arg460Cys	VAR_027218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027218	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	398	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Arg460Cys	VAR_027218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027218	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	245_G	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Arg460Cys	VAR_027218	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027218	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	167	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Arg460Leu	VAR_027219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027219	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	392	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Arg460Leu	VAR_027219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027219	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	360	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Arg460Leu	VAR_027219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027219	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	322	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Arg460Leu	VAR_027219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027219	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	124	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Arg460Leu	VAR_027219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027219	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	992	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Arg460Leu	VAR_027219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027219	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	398	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Arg460Leu	VAR_027219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027219	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	245_G	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Arg460Leu	VAR_027219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027219	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	167	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Asp470Val	VAR_027220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027220	rs28939368 Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	402	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Asp470Val	VAR_027220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027220	rs28939368 Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	579	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Asp470Val	VAR_027220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027220	rs28939368 Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	332	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Asp470Val	VAR_027220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027220	rs28939368 Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	134	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Asp470Val	VAR_027220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027220	rs28939368 Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	1002	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Asp470Val	VAR_027220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027220	rs28939368 Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	408	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Asp470Val	VAR_027220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027220	rs28939368 Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	256	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Asp470Val	VAR_027220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027220	rs28939368 Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	177	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Ala485Val	VAR_027221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027221	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	419	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Ala485Val	VAR_027221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027221	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	610	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Ala485Val	VAR_027221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027221	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	346	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Ala485Val	VAR_027221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027221	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	161	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Ala485Val	VAR_027221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027221	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	1070	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Ala485Val	VAR_027221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027221	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	453	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Ala485Val	VAR_027221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027221	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	270	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Ala485Val	VAR_027221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027221	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	216	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Pro489Leu	VAR_027222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027222	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	423	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Pro489Leu	VAR_027222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027222	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	647	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Pro489Leu	VAR_027222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027222	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	350	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Pro489Leu	VAR_027222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027222	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	165	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Pro489Leu	VAR_027222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027222	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	1074	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Pro489Leu	VAR_027222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027222	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	457	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Pro489Leu	VAR_027222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027222	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	274	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Pro489Leu	VAR_027222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027222	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	222	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Asp493Gly	VAR_026760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026760	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	427	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Asp493Gly	VAR_026760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026760	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	651	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Asp493Gly	VAR_026760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026760	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	354	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Asp493Gly	VAR_026760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026760	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	180	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Asp493Gly	VAR_026760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026760	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	1078	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Asp493Gly	VAR_026760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026760	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	502	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Asp493Gly	VAR_026760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026760	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	278	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Asp493Gly	VAR_026760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026760	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	226	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Arg499Cys	VAR_010198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010198	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	435	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Arg499Cys	VAR_010198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010198	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	665	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Arg499Cys	VAR_010198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010198	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	365	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Arg499Cys	VAR_010198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010198	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	186	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Arg499Cys	VAR_010198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010198	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	1103	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Arg499Cys	VAR_010198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010198	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	512	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Arg499Cys	VAR_010198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010198	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	284	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Arg499Cys	VAR_010198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010198	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	235	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Arg499His	VAR_026761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026761	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	435	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Arg499His	VAR_026761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026761	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	665	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Arg499His	VAR_026761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026761	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	365	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Arg499His	VAR_026761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026761	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	186	pfam07728	11875211,NP_055761
6683	12230611	Disease	p.Arg499His	VAR_026761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026761	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	1103	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Arg499His	VAR_026761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026761	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	512	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Arg499His	VAR_026761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026761	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	284	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Arg499His	VAR_026761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026761	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	235	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Arg503Leu	VAR_019442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019442	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	439	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Arg503Leu	VAR_019442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019442	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	669	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Arg503Leu	VAR_019442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019442	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	368_G	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Arg503Leu	VAR_019442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019442	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	1107	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Arg503Leu	VAR_019442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019442	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	519	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Arg503Leu	VAR_019442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019442	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	288	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Arg503Leu	VAR_019442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019442	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	239	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Arg503Trp	VAR_026762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026762	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	439	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Arg503Trp	VAR_026762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026762	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	669	smart00382	11875211,NP_055761
6683	12230611	Disease	p.Arg503Trp	VAR_026762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026762	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	368_G	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Arg503Trp	VAR_026762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026762	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	1107	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Arg503Trp	VAR_026762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026762	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	519	cd00009	11875211,NP_055761
6683	12230611	Disease	p.Arg503Trp	VAR_026762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026762	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	288	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Arg503Trp	VAR_026762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026762	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	239	pfam00004	11875211,NP_055761
6683	12230611	Disease	p.Glu512Asp	VAR_027223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027223	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	448	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Glu512Asp	VAR_027223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027223	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	376	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Glu512Asp	VAR_027223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027223	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	1116	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Glu512Asp	VAR_027223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027223	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	297	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Leu534Pro	VAR_019444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019444	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	471	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Leu534Pro	VAR_019444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019444	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	397	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Leu534Pro	VAR_019444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019444	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	1162	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Leu534Pro	VAR_019444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019444	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	319	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Ala551Tyr	VAR_019451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019451	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	493	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Ala551Tyr	VAR_019451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019451	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	414	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Ala551Tyr	VAR_019451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019451	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	1199	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Ala551Tyr	VAR_019451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019451	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	336	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Asp555Asn	VAR_027224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027224	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	530	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Asp555Asn	VAR_027224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027224	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	418	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Asp555Asn	VAR_027224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027224	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	1203	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Asp555Asn	VAR_027224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027224	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	341	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Ala556Val	VAR_027225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027225	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	531	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Ala556Val	VAR_027225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027225	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	419	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Ala556Val	VAR_027225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027225	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	1204	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Ala556Val	VAR_027225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027225	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	342	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Gly559Asp	VAR_027226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027226	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	535	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Gly559Asp	VAR_027226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027226	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	422	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Gly559Asp	VAR_027226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027226	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	1207	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Gly559Asp	VAR_027226	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027226	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	345	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Arg562Gly	VAR_027227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027227	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	571	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Arg562Gly	VAR_027227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027227	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	425	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Arg562Gly	VAR_027227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027227	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	1210	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Arg562Gly	VAR_027227	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027227	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	348	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Arg562Gln	VAR_027228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027228	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	571	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Arg562Gln	VAR_027228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027228	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	425	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Arg562Gln	VAR_027228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027228	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	1210	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Arg562Gln	VAR_027228	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027228	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	348	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Asp584His	VAR_010199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010199	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	651	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Asp584His	VAR_010199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010199	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	435	COG1222	11875211,NP_055761
6683	12230611	Disease	p.Asp584His	VAR_010199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010199	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	1394	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Asp584His	VAR_010199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010199	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	358	COG1223	11875211,NP_055761
6683	12230611	Disease	p.Trp607Cys	VAR_026763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026763	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	740	COG0465	11875211,NP_055761
6683	12230611	Disease	p.Trp607Cys	VAR_026763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026763	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	1445	COG0464	11875211,NP_055761
6683	12230611	Disease	p.Thr614Ile	VAR_019445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019445	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	No Domain	N/A	11875211,NP_055761
6683	12230611	Disease	p.Thr615Ile	VAR_019452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019452	- Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]	SWISS	No Domain	N/A	11875211,NP_055761
NULL	296453014	Disease	p.Arg283Gln	VAR_038334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038334	- Globozoospermia [MIM:609856]	SWISS	No Domain	N/A	190194384,NP_114161
80208	296452946	Disease	p.Phe1349Ile	VAR_058417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058417	- Spastic paraplegia autosomal recessive type 11 (SPG11) [MIM:604360]	SWISS	No Domain	N/A	93204888,NP_079413
6687	116242796	Disease	p.Gly349Ser	VAR_063607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063607	- Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]	SWISS	305	COG0465	4507173,NP_003110
6687	116242796	Disease	p.Gly349Ser	VAR_063607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063607	- Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]	SWISS	493	COG0464	4507173,NP_003110
6687	116242796	Disease	p.Gly349Ser	VAR_063607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063607	- Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]	SWISS	9	smart00382	4507173,NP_003110
6687	116242796	Disease	p.Gly349Ser	VAR_063607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063607	- Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]	SWISS	10	pfam07724	4507173,NP_003110
6687	116242796	Disease	p.Gly349Ser	VAR_063607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063607	- Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]	SWISS	167	COG1223	4507173,NP_003110
6687	116242796	Disease	p.Gly349Ser	VAR_063607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063607	- Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]	SWISS	5	pfam00004	4507173,NP_003110
6687	116242796	Disease	p.Gly349Ser	VAR_063607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063607	- Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]	SWISS	90	cd00009	4507173,NP_003110
6687	116242796	Disease	p.Gly349Ser	VAR_063607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063607	- Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]	SWISS	240	COG1222	4507173,NP_003110
6687	116242796	Disease	p.Gly349Ser	VAR_063607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063607	- Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]	SWISS	6	pfam07728	4507173,NP_003110
6687	116242796	Disease	p.Ala510Val	VAR_063609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063609	- Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]	SWISS	480	COG0465	4507173,NP_003110
6687	116242796	Disease	p.Ala510Val	VAR_063609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063609	- Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]	SWISS	1166	COG0464	4507173,NP_003110
6687	116242796	Disease	p.Ala510Val	VAR_063609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063609	- Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]	SWISS	323	COG1223	4507173,NP_003110
6687	116242796	Disease	p.Ala510Val	VAR_063609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063609	- Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]	SWISS	401	COG1222	4507173,NP_003110
6687	116242796	Disease	p.Trp583Cys	VAR_063612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063612	- Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]	SWISS	554	COG0465	4507173,NP_003110
6687	116242796	Disease	p.Trp583Cys	VAR_063612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063612	- Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]	SWISS	23	pfam01434	4507173,NP_003110
6687	116242796	Disease	p.Ser692Thr	VAR_045898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045898	- Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]	SWISS	682	COG0465	4507173,NP_003110
6687	116242796	Disease	p.Ser692Thr	VAR_045898	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045898	- Spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]	SWISS	143	pfam01434	4507173,NP_003110
6690	124856	Disease	p.Leu12Phe	VAR_032011	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032011	rs35877720 Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	No Domain	N/A	45505132,NP_003113
6690	124856	Disease	p.Leu14Pro	VAR_011688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011688	- Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	No Domain	N/A	45505132,NP_003113
6690	124856	Disease	p.Asn34Ser	VAR_011689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011689	rs17107315 Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	3	pfam00050	45505132,NP_003113
6690	124856	Disease	p.Asn34Ser	VAR_011689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011689	rs17107315 Hereditary pancreatitis (HPC) [MIM:167800]	SWISS	5	smart00280	45505132,NP_003113
6690	124856	Disease	p.Asn34Ser	VAR_011689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011689	rs17107315 Tropical calcific pancreatitis (TCP) [MIM:608189]	SWISS	3	pfam00050	45505132,NP_003113
6690	124856	Disease	p.Asn34Ser	VAR_011689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011689	rs17107315 Tropical calcific pancreatitis (TCP) [MIM:608189]	SWISS	5	smart00280	45505132,NP_003113
10653	13124550	Disease	p.Tyr163Cys	VAR_058718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058718	- Congenital secretory sodium diarrhea type 3 (DIAR3) [MIM:270420]	SWISS	78	smart00131	10863909,NP_066925
10653	13124550	Disease	p.Tyr163Cys	VAR_058718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058718	- Congenital secretory sodium diarrhea type 3 (DIAR3) [MIM:270420]	SWISS	43	cd00109	10863909,NP_066925
10653	13124550	Disease	p.Tyr163Cys	VAR_058718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058718	- Congenital secretory sodium diarrhea type 3 (DIAR3) [MIM:270420]	SWISS	50	pfam00014	10863909,NP_066925
6697	464801	Disease	p.Arg150Gly	VAR_058007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058007	- Dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]	SWISS	186	pfam00106	4507185,NP_003115
6697	464801	Disease	p.Arg150Gly	VAR_058007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058007	- Dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]	SWISS	134	COG3967	4507185,NP_003115
6697	464801	Disease	p.Arg150Gly	VAR_058007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058007	- Dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]	SWISS	151	COG4221	4507185,NP_003115
6697	464801	Disease	p.Arg150Gly	VAR_058007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058007	- Dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]	SWISS	387	COG1028	4507185,NP_003115
6697	464801	Disease	p.Arg150Gly	VAR_058007	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058007	- Dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]	SWISS	153	COG0300	4507185,NP_003115
6697	464801	Disease	p.Pro163Leu	VAR_058008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058008	- Dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]	SWISS	199	pfam00106	4507185,NP_003115
6697	464801	Disease	p.Pro163Leu	VAR_058008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058008	- Dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]	SWISS	147	COG3967	4507185,NP_003115
6697	464801	Disease	p.Pro163Leu	VAR_058008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058008	- Dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]	SWISS	166	COG4221	4507185,NP_003115
6697	464801	Disease	p.Pro163Leu	VAR_058008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058008	- Dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]	SWISS	401	COG1028	4507185,NP_003115
6697	464801	Disease	p.Pro163Leu	VAR_058008	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058008	- Dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]	SWISS	166	COG0300	4507185,NP_003115
6708	308153675	Disease	p.Ile24Ser	VAR_001324	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001324	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Arg28Cys	VAR_001328	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001328	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Arg28His	VAR_001325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001325	rs28934004 Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Arg28Leu	VAR_001326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001326	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Arg28Ser	VAR_001327	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001327	rs28934005 Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Val31Ala	VAR_001329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001329	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Arg34Trp	VAR_001330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001330	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Arg41Trp	VAR_001331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001331	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Arg45Ser	VAR_001332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001332	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Arg45Thr	VAR_001333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001333	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Gly46Val	VAR_001334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001334	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Lys48Arg	VAR_001335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001335	- Hereditary pyropoikilocytosis (HPP) [MIM:266140]	SWISS	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Leu49Phe	VAR_001336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001336	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	No Domain	N/A	115298659,NP_003117
6708	308153675	Disease	p.Gly151Asp	VAR_001337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001337	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	118	pfam00435	115298659,NP_003117
6708	308153675	Disease	p.Gly151Asp	VAR_001337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001337	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	347	smart00150	115298659,NP_003117
6708	308153675	Disease	p.Gly151Asp	VAR_001337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001337	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	126	cd00176	115298659,NP_003117
6708	308153675	Disease	p.Leu207Pro	VAR_001339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001339	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	93	smart00150	115298659,NP_003117
6708	308153675	Disease	p.Leu207Pro	VAR_001339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001339	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	56	pfam00435	115298659,NP_003117
6708	308153675	Disease	p.Leu207Pro	VAR_001339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001339	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	230	cd00176	115298659,NP_003117
6708	308153675	Disease	p.Leu207Pro	VAR_001339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001339	- Hereditary pyropoikilocytosis (HPP) [MIM:266140]	SWISS	93	smart00150	115298659,NP_003117
6708	308153675	Disease	p.Leu207Pro	VAR_001339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001339	- Hereditary pyropoikilocytosis (HPP) [MIM:266140]	SWISS	56	pfam00435	115298659,NP_003117
6708	308153675	Disease	p.Leu207Pro	VAR_001339	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001339	- Hereditary pyropoikilocytosis (HPP) [MIM:266140]	SWISS	230	cd00176	115298659,NP_003117
6708	308153675	Disease	p.Leu260Pro	VAR_001340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001340	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	350	smart00150	115298659,NP_003117
6708	308153675	Disease	p.Leu260Pro	VAR_001340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001340	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	121	pfam00435	115298659,NP_003117
6708	308153675	Disease	p.Leu260Pro	VAR_001340	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001340	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	332	cd00176	115298659,NP_003117
6708	308153675	Disease	p.Ser261Pro	VAR_001341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001341	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	122	pfam00435	115298659,NP_003117
6708	308153675	Disease	p.Ser261Pro	VAR_001341	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001341	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	333	cd00176	115298659,NP_003117
6708	308153675	Disease	p.His469Pro	VAR_001342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001342	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	118	pfam00435	115298659,NP_003117
6708	308153675	Disease	p.His469Pro	VAR_001342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001342	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	347	smart00150	115298659,NP_003117
6708	308153675	Disease	p.His469Pro	VAR_001342	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001342	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	329	cd00176	115298659,NP_003117
6708	308153675	Disease	p.Gln471Pro	VAR_001344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001344	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	120	pfam00435	115298659,NP_003117
6708	308153675	Disease	p.Gln471Pro	VAR_001344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001344	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	349	smart00150	115298659,NP_003117
6708	308153675	Disease	p.Gln471Pro	VAR_001344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001344	- Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	331	cd00176	115298659,NP_003117
6708	308153675	Disease	p.Asp791Glu	VAR_001346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001346	rs7418956 Elliptocytosis type 2 (EL2) [MIM:130600]	SWISS	131	cd00176	115298659,NP_003117
6710	215274269	Disease	p.Ala2018Gly	VAR_001357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001357	- Elliptocytosis type 3 (EL3) [MIM:182870]	SWISS	7	smart00150	67782319,NP_000338
6710	215274269	Disease	p.Ala2018Gly	VAR_001357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001357	- Elliptocytosis type 3 (EL3) [MIM:182870]	SWISS	142	cd00176	67782319,NP_000338
6710	215274269	Disease	p.Ser2019Pro	VAR_001358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001358	- Elliptocytosis type 3 (EL3) [MIM:182870]	SWISS	8	smart00150	67782319,NP_000338
6710	215274269	Disease	p.Ser2019Pro	VAR_001358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001358	- Elliptocytosis type 3 (EL3) [MIM:182870]	SWISS	143	cd00176	67782319,NP_000338
6710	215274269	Disease	p.Ala2023Val	VAR_001359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001359	- Elliptocytosis type 3 (EL3) [MIM:182870]	SWISS	13	smart00150	67782319,NP_000338
6710	215274269	Disease	p.Ala2023Val	VAR_001359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001359	- Elliptocytosis type 3 (EL3) [MIM:182870]	SWISS	164	cd00176	67782319,NP_000338
6710	215274269	Disease	p.Trp2024Arg	VAR_001360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001360	- Elliptocytosis type 3 (EL3) [MIM:182870]	SWISS	14	smart00150	67782319,NP_000338
6710	215274269	Disease	p.Trp2024Arg	VAR_001360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001360	- Elliptocytosis type 3 (EL3) [MIM:182870]	SWISS	165	cd00176	67782319,NP_000338
6710	215274269	Disease	p.Leu2025Arg	VAR_001361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001361	- Elliptocytosis type 3 (EL3) [MIM:182870]	SWISS	15	smart00150	67782319,NP_000338
6710	215274269	Disease	p.Leu2025Arg	VAR_001361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001361	- Elliptocytosis type 3 (EL3) [MIM:182870]	SWISS	166	cd00176	67782319,NP_000338
6710	215274269	Disease	p.Ala2053Pro	VAR_001362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001362	- Elliptocytosis type 3 (EL3) [MIM:182870]	SWISS	87	smart00150	67782319,NP_000338
6710	215274269	Disease	p.Ala2053Pro	VAR_001362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_001362	- Elliptocytosis type 3 (EL3) [MIM:182870]	SWISS	225	cd00176	67782319,NP_000338
6712	308153553	Disease	p.Leu253Pro	VAR_026767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026767	- Spinocerebellar ataxia type 5 (SCA5) [MIM:600224]	SWISS	No Domain	N/A	NULL
10558	6685579	Disease	p.Cys133Trp	VAR_011392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011392	- Hereditary sensory and autonomic neuropathy type 1 (HSAN1) [MIM:162400]	SWISS	44	pfam00155	5454084,NP_006406
10558	6685579	Disease	p.Cys133Trp	VAR_011392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011392	- Hereditary sensory and autonomic neuropathy type 1 (HSAN1) [MIM:162400]	SWISS	38	cd06454	5454084,NP_006406
10558	6685579	Disease	p.Cys133Trp	VAR_011392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011392	- Hereditary sensory and autonomic neuropathy type 1 (HSAN1) [MIM:162400]	SWISS	142	COG0156	5454084,NP_006406
10558	6685579	Disease	p.Cys133Tyr	VAR_011393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011393	- Hereditary sensory and autonomic neuropathy type 1 (HSAN1) [MIM:162400]	SWISS	44	pfam00155	5454084,NP_006406
10558	6685579	Disease	p.Cys133Tyr	VAR_011393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011393	- Hereditary sensory and autonomic neuropathy type 1 (HSAN1) [MIM:162400]	SWISS	38	cd06454	5454084,NP_006406
10558	6685579	Disease	p.Cys133Tyr	VAR_011393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011393	- Hereditary sensory and autonomic neuropathy type 1 (HSAN1) [MIM:162400]	SWISS	142	COG0156	5454084,NP_006406
10558	6685579	Disease	p.Val144Asp	VAR_011394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011394	- Hereditary sensory and autonomic neuropathy type 1 (HSAN1) [MIM:162400]	SWISS	55	pfam00155	5454084,NP_006406
10558	6685579	Disease	p.Val144Asp	VAR_011394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011394	- Hereditary sensory and autonomic neuropathy type 1 (HSAN1) [MIM:162400]	SWISS	54	cd06454	5454084,NP_006406
10558	6685579	Disease	p.Val144Asp	VAR_011394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011394	- Hereditary sensory and autonomic neuropathy type 1 (HSAN1) [MIM:162400]	SWISS	160	COG0156	5454084,NP_006406
10558	6685579	Disease	p.Gly387Ala	VAR_037890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037890	- Hereditary sensory and autonomic neuropathy type 1 (HSAN1) [MIM:162400]	SWISS	415	pfam00155	5454084,NP_006406
10558	6685579	Disease	p.Gly387Ala	VAR_037890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037890	- Hereditary sensory and autonomic neuropathy type 1 (HSAN1) [MIM:162400]	SWISS	325	cd06454	5454084,NP_006406
10558	6685579	Disease	p.Gly387Ala	VAR_037890	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037890	- Hereditary sensory and autonomic neuropathy type 1 (HSAN1) [MIM:162400]	SWISS	453	COG0156	5454084,NP_006406
8878	74735628	Disease	p.Pro387Leu	VAR_023592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023592	- Paget disease of bone (PDB) [MIM:602080]	SWISS	No Domain	N/A	4505571,NP_003891
8878	74735628	Disease	p.Pro392Leu	VAR_023593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023593	- Paget disease of bone (PDB) [MIM:602080]	SWISS	No Domain	N/A	4505571,NP_003891
8878	74735628	Disease	p.Ser399Pro	VAR_023594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023594	- Paget disease of bone (PDB) [MIM:602080]	SWISS	6	smart00165	4505571,NP_003891
8878	74735628	Disease	p.Ser399Pro	VAR_023594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023594	- Paget disease of bone (PDB) [MIM:602080]	SWISS	6	cd00194	4505571,NP_003891
8878	74735628	Disease	p.Met404Thr	VAR_023595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023595	- Paget disease of bone (PDB) [MIM:602080]	SWISS	11	smart00165	4505571,NP_003891
8878	74735628	Disease	p.Met404Thr	VAR_023595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023595	- Paget disease of bone (PDB) [MIM:602080]	SWISS	12	cd00194	4505571,NP_003891
8878	74735628	Disease	p.Met404Val	VAR_023596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023596	- Paget disease of bone (PDB) [MIM:602080]	SWISS	11	smart00165	4505571,NP_003891
8878	74735628	Disease	p.Met404Val	VAR_023596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023596	- Paget disease of bone (PDB) [MIM:602080]	SWISS	12	cd00194	4505571,NP_003891
8878	74735628	Disease	p.Gly411Ser	VAR_023597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023597	- Paget disease of bone (PDB) [MIM:602080]	SWISS	20	smart00165	4505571,NP_003891
8878	74735628	Disease	p.Gly411Ser	VAR_023597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023597	- Paget disease of bone (PDB) [MIM:602080]	SWISS	20	cd00194	4505571,NP_003891
8878	74735628	Disease	p.Gly425Arg	VAR_023598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023598	- Paget disease of bone (PDB) [MIM:602080]	SWISS	35	smart00165	4505571,NP_003891
8878	74735628	Disease	p.Gly425Arg	VAR_023598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023598	- Paget disease of bone (PDB) [MIM:602080]	SWISS	35	cd00194	4505571,NP_003891
6716	401056	Disease	p.Leu55Gln	VAR_013105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013105	- Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	SWISS	No Domain	N/A	NULL
6716	401056	Disease	p.Gly85Asp	VAR_013130	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013130	- Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	SWISS	No Domain	N/A	NULL
6716	401056	Disease	p.Gly115Asp	VAR_013106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013106	- Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	SWISS	11	pfam02544	NULL
6716	401056	Disease	p.Gly123Arg	VAR_025854	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025854	- Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	SWISS	20	pfam02544	NULL
6716	401056	Disease	p.Gln126Arg	VAR_025855	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025855	- Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	SWISS	23	pfam02544	NULL
6716	401056	Disease	p.Arg145Trp	VAR_025851	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025851	- Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	SWISS	49	pfam02544	NULL
6716	401056	Disease	p.Gly158Arg	VAR_025856	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025856	- Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	SWISS	62	pfam02544	NULL
6716	401056	Disease	p.Pro181Leu	VAR_025852	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025852	- Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	SWISS	89	pfam02544	NULL
6716	401056	Disease	p.Gly183Ser	VAR_013108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013108	- Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	SWISS	92	pfam02544	NULL
6716	401056	Disease	p.Gly196Ser	VAR_013109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013109	- Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	SWISS	105	pfam02544	NULL
6716	401056	Disease	p.Glu197Asp	VAR_013110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013110	- Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	SWISS	106	pfam02544	NULL
6716	401056	Disease	p.Glu200Lys	VAR_013132	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013132	- Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	SWISS	109	pfam02544	NULL
6716	401056	Disease	p.Ala207Asp	VAR_025857	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025857	- Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	SWISS	116	pfam02544	NULL
6716	401056	Disease	p.Pro212Arg	VAR_013111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013111	- Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	SWISS	121	pfam02544	NULL
6716	401056	Disease	p.Ala228Thr	VAR_013112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013112	- Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	SWISS	140	pfam02544	NULL
6716	401056	Disease	p.His231Arg	VAR_013113	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013113	- Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	SWISS	143	pfam02544	NULL
6716	401056	Disease	p.Tyr235Phe	VAR_025853	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025853	- Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	SWISS	147	pfam02544	NULL
6716	401056	Disease	p.Ser245Tyr	VAR_013133	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013133	- Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	SWISS	158	pfam02544	NULL
6716	401056	Disease	p.Arg246Gln	VAR_013134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013134	rs9332967 Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	SWISS	159	pfam02544	NULL
6716	401056	Disease	p.Arg246Trp	VAR_005609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005609	- Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]	SWISS	159	pfam02544	NULL
27286	74739594	Disease	p.Tyr72Ser	VAR_030312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030312	- Bilateral perisylvian polymicrogyria (BPP) [MIM:300388]	SWISS	23	cd00033	7657619,NP_055282
27286	74739594	Disease	p.Tyr72Ser	VAR_030312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030312	- Bilateral perisylvian polymicrogyria (BPP) [MIM:300388]	SWISS	22	smart00032	7657619,NP_055282
27286	74739594	Disease	p.Tyr72Ser	VAR_030312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030312	- Bilateral perisylvian polymicrogyria (BPP) [MIM:300388]	SWISS	2	pfam00084	7657619,NP_055282
27286	74739594	Disease	p.Asn327Ser	VAR_030314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030314	- Rolandic epilepsy with speech dyspraxia and mental retardation X-linked (RESDX) [MIM:300643]	SWISS	No Domain	N/A	7657619,NP_055282
6736	548983	Disease	p.Ser3Leu	VAR_030019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030019	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	No Domain	N/A	4507225,NP_003131
6736	548983	Disease	p.Ser18Asn	VAR_003717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003717	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	No Domain	N/A	4507225,NP_003131
6736	548983	Disease	p.Val60Ala	VAR_003718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003718	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	2	smart00398	4507225,NP_003131
6736	548983	Disease	p.Val60Ala	VAR_003718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003718	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	2	cd01388	4507225,NP_003131
6736	548983	Disease	p.Val60Ala	VAR_003718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003718	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	2	cd01389	4507225,NP_003131
6736	548983	Disease	p.Val60Leu	VAR_003719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003719	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	2	smart00398	4507225,NP_003131
6736	548983	Disease	p.Val60Leu	VAR_003719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003719	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	2	cd01388	4507225,NP_003131
6736	548983	Disease	p.Val60Leu	VAR_003719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003719	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	2	cd01389	4507225,NP_003131
6736	548983	Disease	p.Arg62Gly	VAR_003720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003720	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	4	smart00398	4507225,NP_003131
6736	548983	Disease	p.Arg62Gly	VAR_003720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003720	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	4	cd01388	4507225,NP_003131
6736	548983	Disease	p.Arg62Gly	VAR_003720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003720	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	4	cd01389	4507225,NP_003131
6736	548983	Disease	p.Arg62Gly	VAR_003720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003720	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	3	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Arg62Gly	VAR_003720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003720	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	3	cd01390	4507225,NP_003131
6736	548983	Disease	p.Arg62Gly	VAR_003720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003720	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	3	cd00084	4507225,NP_003131
6736	548983	Disease	p.Met64Ile	VAR_003721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003721	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	6	smart00398	4507225,NP_003131
6736	548983	Disease	p.Met64Ile	VAR_003721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003721	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	6	cd01388	4507225,NP_003131
6736	548983	Disease	p.Met64Ile	VAR_003721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003721	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	6	cd01389	4507225,NP_003131
6736	548983	Disease	p.Met64Ile	VAR_003721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003721	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	5	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Met64Ile	VAR_003721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003721	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	5	cd01390	4507225,NP_003131
6736	548983	Disease	p.Met64Ile	VAR_003721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003721	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	5	cd00084	4507225,NP_003131
6736	548983	Disease	p.Met64Arg	VAR_017298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017298	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	6	smart00398	4507225,NP_003131
6736	548983	Disease	p.Met64Arg	VAR_017298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017298	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	6	cd01388	4507225,NP_003131
6736	548983	Disease	p.Met64Arg	VAR_017298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017298	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	6	cd01389	4507225,NP_003131
6736	548983	Disease	p.Met64Arg	VAR_017298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017298	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	5	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Met64Arg	VAR_017298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017298	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	5	cd01390	4507225,NP_003131
6736	548983	Disease	p.Met64Arg	VAR_017298	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017298	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	5	cd00084	4507225,NP_003131
6736	548983	Disease	p.Phe67Val	VAR_017299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017299	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	9	smart00398	4507225,NP_003131
6736	548983	Disease	p.Phe67Val	VAR_017299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017299	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	9	cd01388	4507225,NP_003131
6736	548983	Disease	p.Phe67Val	VAR_017299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017299	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	9	cd01389	4507225,NP_003131
6736	548983	Disease	p.Phe67Val	VAR_017299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017299	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	8	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Phe67Val	VAR_017299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017299	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	8	cd01390	4507225,NP_003131
6736	548983	Disease	p.Phe67Val	VAR_017299	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017299	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	8	cd00084	4507225,NP_003131
6736	548983	Disease	p.Ile68Thr	VAR_003722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003722	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	10	smart00398	4507225,NP_003131
6736	548983	Disease	p.Ile68Thr	VAR_003722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003722	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	10	cd01388	4507225,NP_003131
6736	548983	Disease	p.Ile68Thr	VAR_003722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003722	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	10	cd01389	4507225,NP_003131
6736	548983	Disease	p.Ile68Thr	VAR_003722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003722	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	9	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Ile68Thr	VAR_003722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003722	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	9	cd01390	4507225,NP_003131
6736	548983	Disease	p.Ile68Thr	VAR_003722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003722	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	9	cd00084	4507225,NP_003131
6736	548983	Disease	p.Arg76Ser	VAR_017300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017300	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	18	smart00398	4507225,NP_003131
6736	548983	Disease	p.Arg76Ser	VAR_017300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017300	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	18	cd01388	4507225,NP_003131
6736	548983	Disease	p.Arg76Ser	VAR_017300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017300	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	18	cd01389	4507225,NP_003131
6736	548983	Disease	p.Arg76Ser	VAR_017300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017300	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	17	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Arg76Ser	VAR_017300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017300	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	17	cd01390	4507225,NP_003131
6736	548983	Disease	p.Arg76Ser	VAR_017300	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017300	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	17	cd00084	4507225,NP_003131
6736	548983	Disease	p.Met78Thr	VAR_003723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003723	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	20	smart00398	4507225,NP_003131
6736	548983	Disease	p.Met78Thr	VAR_003723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003723	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	20	cd01388	4507225,NP_003131
6736	548983	Disease	p.Met78Thr	VAR_003723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003723	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	20	cd01389	4507225,NP_003131
6736	548983	Disease	p.Met78Thr	VAR_003723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003723	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	19	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Met78Thr	VAR_003723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003723	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	19	cd01390	4507225,NP_003131
6736	548983	Disease	p.Met78Thr	VAR_003723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003723	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	19	cd00084	4507225,NP_003131
6736	548983	Disease	p.Asn87Tyr	VAR_017301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017301	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	46	smart00398	4507225,NP_003131
6736	548983	Disease	p.Asn87Tyr	VAR_017301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017301	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	31	cd01388	4507225,NP_003131
6736	548983	Disease	p.Asn87Tyr	VAR_017301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017301	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	38	cd01389	4507225,NP_003131
6736	548983	Disease	p.Asn87Tyr	VAR_017301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017301	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	30	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Asn87Tyr	VAR_017301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017301	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	39	cd01390	4507225,NP_003131
6736	548983	Disease	p.Asn87Tyr	VAR_017301	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017301	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	42	cd00084	4507225,NP_003131
6736	548983	Disease	p.Ile90Met	VAR_003724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003724	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	51	smart00398	4507225,NP_003131
6736	548983	Disease	p.Ile90Met	VAR_003724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003724	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	34	cd01388	4507225,NP_003131
6736	548983	Disease	p.Ile90Met	VAR_003724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003724	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	41	cd01389	4507225,NP_003131
6736	548983	Disease	p.Ile90Met	VAR_003724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003724	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	33	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Ile90Met	VAR_003724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003724	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	42	cd01390	4507225,NP_003131
6736	548983	Disease	p.Ile90Met	VAR_003724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003724	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	45	cd00084	4507225,NP_003131
6736	548983	Disease	p.Ile90Met	VAR_003724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003724	- True hermaphroditism [MIM:400045]	SWISS	51	smart00398	4507225,NP_003131
6736	548983	Disease	p.Ile90Met	VAR_003724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003724	- True hermaphroditism [MIM:400045]	SWISS	34	cd01388	4507225,NP_003131
6736	548983	Disease	p.Ile90Met	VAR_003724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003724	- True hermaphroditism [MIM:400045]	SWISS	41	cd01389	4507225,NP_003131
6736	548983	Disease	p.Ile90Met	VAR_003724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003724	- True hermaphroditism [MIM:400045]	SWISS	33	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Ile90Met	VAR_003724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003724	- True hermaphroditism [MIM:400045]	SWISS	42	cd01390	4507225,NP_003131
6736	548983	Disease	p.Ile90Met	VAR_003724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003724	- True hermaphroditism [MIM:400045]	SWISS	45	cd00084	4507225,NP_003131
6736	548983	Disease	p.Ser91Gly	VAR_003725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003725	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	52	smart00398	4507225,NP_003131
6736	548983	Disease	p.Ser91Gly	VAR_003725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003725	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	35	cd01388	4507225,NP_003131
6736	548983	Disease	p.Ser91Gly	VAR_003725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003725	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	42	cd01389	4507225,NP_003131
6736	548983	Disease	p.Ser91Gly	VAR_003725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003725	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	34	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Ser91Gly	VAR_003725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003725	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	43	cd01390	4507225,NP_003131
6736	548983	Disease	p.Ser91Gly	VAR_003725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003725	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	46	cd00084	4507225,NP_003131
6736	548983	Disease	p.Gly95Glu	VAR_017302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017302	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	56	smart00398	4507225,NP_003131
6736	548983	Disease	p.Gly95Glu	VAR_017302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017302	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	39	cd01388	4507225,NP_003131
6736	548983	Disease	p.Gly95Glu	VAR_017302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017302	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	46	cd01389	4507225,NP_003131
6736	548983	Disease	p.Gly95Glu	VAR_017302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017302	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	38	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Gly95Glu	VAR_017302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017302	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	47	cd01390	4507225,NP_003131
6736	548983	Disease	p.Gly95Glu	VAR_017302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017302	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	50	cd00084	4507225,NP_003131
6736	548983	Disease	p.Gly95Arg	VAR_003726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003726	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	56	smart00398	4507225,NP_003131
6736	548983	Disease	p.Gly95Arg	VAR_003726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003726	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	39	cd01388	4507225,NP_003131
6736	548983	Disease	p.Gly95Arg	VAR_003726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003726	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	46	cd01389	4507225,NP_003131
6736	548983	Disease	p.Gly95Arg	VAR_003726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003726	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	38	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Gly95Arg	VAR_003726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003726	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	47	cd01390	4507225,NP_003131
6736	548983	Disease	p.Gly95Arg	VAR_003726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003726	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	50	cd00084	4507225,NP_003131
6736	548983	Disease	p.Leu101His	VAR_003727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003727	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	62	smart00398	4507225,NP_003131
6736	548983	Disease	p.Leu101His	VAR_003727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003727	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	45	cd01388	4507225,NP_003131
6736	548983	Disease	p.Leu101His	VAR_003727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003727	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	52	cd01389	4507225,NP_003131
6736	548983	Disease	p.Leu101His	VAR_003727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003727	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	44	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Leu101His	VAR_003727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003727	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	53	cd01390	4507225,NP_003131
6736	548983	Disease	p.Leu101His	VAR_003727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003727	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	56	cd00084	4507225,NP_003131
6736	548983	Disease	p.Lys106Ile	VAR_003728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003728	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	68	smart00398	4507225,NP_003131
6736	548983	Disease	p.Lys106Ile	VAR_003728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003728	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	50	cd01388	4507225,NP_003131
6736	548983	Disease	p.Lys106Ile	VAR_003728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003728	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	58	cd01389	4507225,NP_003131
6736	548983	Disease	p.Lys106Ile	VAR_003728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003728	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	49	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Lys106Ile	VAR_003728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003728	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	58	cd01390	4507225,NP_003131
6736	548983	Disease	p.Lys106Ile	VAR_003728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003728	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	65	cd00084	4507225,NP_003131
6736	548983	Disease	p.Pro108Arg	VAR_003729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003729	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	70	smart00398	4507225,NP_003131
6736	548983	Disease	p.Pro108Arg	VAR_003729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003729	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	52	cd01388	4507225,NP_003131
6736	548983	Disease	p.Pro108Arg	VAR_003729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003729	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	60	cd01389	4507225,NP_003131
6736	548983	Disease	p.Pro108Arg	VAR_003729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003729	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	51	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Pro108Arg	VAR_003729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003729	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	60	cd01390	4507225,NP_003131
6736	548983	Disease	p.Pro108Arg	VAR_003729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003729	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	67	cd00084	4507225,NP_003131
6736	548983	Disease	p.Phe109Ser	VAR_003730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003730	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	71	smart00398	4507225,NP_003131
6736	548983	Disease	p.Phe109Ser	VAR_003730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003730	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	53	cd01388	4507225,NP_003131
6736	548983	Disease	p.Phe109Ser	VAR_003730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003730	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	61	cd01389	4507225,NP_003131
6736	548983	Disease	p.Phe109Ser	VAR_003730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003730	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	52	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Phe109Ser	VAR_003730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003730	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	61	cd01390	4507225,NP_003131
6736	548983	Disease	p.Phe109Ser	VAR_003730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003730	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	68	cd00084	4507225,NP_003131
6736	548983	Disease	p.Ala113Thr	VAR_003731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003731	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	75	smart00398	4507225,NP_003131
6736	548983	Disease	p.Ala113Thr	VAR_003731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003731	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	57	cd01388	4507225,NP_003131
6736	548983	Disease	p.Ala113Thr	VAR_003731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003731	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	65	cd01389	4507225,NP_003131
6736	548983	Disease	p.Ala113Thr	VAR_003731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003731	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	56	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Ala113Thr	VAR_003731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003731	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	65	cd01390	4507225,NP_003131
6736	548983	Disease	p.Ala113Thr	VAR_003731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003731	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	72	cd00084	4507225,NP_003131
6736	548983	Disease	p.Pro125Leu	VAR_003732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003732	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	92	smart00398	4507225,NP_003131
6736	548983	Disease	p.Pro125Leu	VAR_003732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003732	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	69	cd01388	4507225,NP_003131
6736	548983	Disease	p.Pro125Leu	VAR_003732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003732	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	77	cd01389	4507225,NP_003131
6736	548983	Disease	p.Pro125Leu	VAR_003732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003732	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	68	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Tyr127Cys	VAR_003733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003733	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	94	smart00398	4507225,NP_003131
6736	548983	Disease	p.Tyr127Cys	VAR_003733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003733	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	71	cd01388	4507225,NP_003131
6736	548983	Disease	p.Tyr127Cys	VAR_003733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003733	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	79	cd01389	4507225,NP_003131
6736	548983	Disease	p.Tyr127Cys	VAR_003733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003733	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	70	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Tyr127Phe	VAR_017303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017303	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	94	smart00398	4507225,NP_003131
6736	548983	Disease	p.Tyr127Phe	VAR_017303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017303	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	71	cd01388	4507225,NP_003131
6736	548983	Disease	p.Tyr127Phe	VAR_017303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017303	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	79	cd01389	4507225,NP_003131
6736	548983	Disease	p.Tyr127Phe	VAR_017303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017303	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	70	pfam00505	4507225,NP_003131
6736	548983	Disease	p.Pro131Arg	VAR_017304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017304	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	83	cd01389	4507225,NP_003131
6736	548983	Disease	p.Arg133Trp	VAR_003734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003734	- Gonadal dysgenesis XY female type (GDXY) [MIM:400044]	SWISS	85	cd01389	4507225,NP_003131
6768	13124575	Disease	p.Gly827Arg	VAR_032849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032849	- Ichthyosis autosomal recessive with hypotrichosis (ARIH) [MIM:610765]	SWISS	314	pfam00089	11415040,NP_068813
6768	13124575	Disease	p.Gly827Arg	VAR_032849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032849	- Ichthyosis autosomal recessive with hypotrichosis (ARIH) [MIM:610765]	SWISS	379	cd00190	11415040,NP_068813
6768	13124575	Disease	p.Gly827Arg	VAR_032849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032849	- Ichthyosis autosomal recessive with hypotrichosis (ARIH) [MIM:610765]	SWISS	533	smart00020	11415040,NP_068813
6770	71152974	Disease	p.Glu169Gly	VAR_014236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014236	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	100	cd08867	56243551,NP_000340
6770	71152974	Disease	p.Glu169Gly	VAR_014236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014236	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	100	cd08905	56243551,NP_000340
6770	71152974	Disease	p.Glu169Gly	VAR_014236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014236	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	101	cd08906	56243551,NP_000340
6770	71152974	Disease	p.Glu169Gly	VAR_014236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014236	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	112	cd08868	56243551,NP_000340
6770	71152974	Disease	p.Glu169Gly	VAR_014236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014236	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	96	cd08904	56243551,NP_000340
6770	71152974	Disease	p.Glu169Gly	VAR_014236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014236	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	98	cd08903	56243551,NP_000340
6770	71152974	Disease	p.Glu169Gly	VAR_014236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014236	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	122	pfam01852	56243551,NP_000340
6770	71152974	Disease	p.Glu169Gly	VAR_014236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014236	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	184	smart00234	56243551,NP_000340
6770	71152974	Disease	p.Glu169Gly	VAR_014236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014236	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	116_G	cd08876	56243551,NP_000340
6770	71152974	Disease	p.Glu169Gly	VAR_014236	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014236	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	145	cd00177	56243551,NP_000340
6770	71152974	Disease	p.Glu169Lys	VAR_014237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014237	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	100	cd08867	56243551,NP_000340
6770	71152974	Disease	p.Glu169Lys	VAR_014237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014237	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	100	cd08905	56243551,NP_000340
6770	71152974	Disease	p.Glu169Lys	VAR_014237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014237	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	101	cd08906	56243551,NP_000340
6770	71152974	Disease	p.Glu169Lys	VAR_014237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014237	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	112	cd08868	56243551,NP_000340
6770	71152974	Disease	p.Glu169Lys	VAR_014237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014237	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	96	cd08904	56243551,NP_000340
6770	71152974	Disease	p.Glu169Lys	VAR_014237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014237	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	98	cd08903	56243551,NP_000340
6770	71152974	Disease	p.Glu169Lys	VAR_014237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014237	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	122	pfam01852	56243551,NP_000340
6770	71152974	Disease	p.Glu169Lys	VAR_014237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014237	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	184	smart00234	56243551,NP_000340
6770	71152974	Disease	p.Glu169Lys	VAR_014237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014237	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	116_G	cd08876	56243551,NP_000340
6770	71152974	Disease	p.Glu169Lys	VAR_014237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014237	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	145	cd00177	56243551,NP_000340
6770	71152974	Disease	p.Arg182Leu	VAR_005627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005627	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	113	cd08867	56243551,NP_000340
6770	71152974	Disease	p.Arg182Leu	VAR_005627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005627	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	113	cd08905	56243551,NP_000340
6770	71152974	Disease	p.Arg182Leu	VAR_005627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005627	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	114	cd08906	56243551,NP_000340
6770	71152974	Disease	p.Arg182Leu	VAR_005627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005627	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	125	cd08868	56243551,NP_000340
6770	71152974	Disease	p.Arg182Leu	VAR_005627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005627	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	109	cd08904	56243551,NP_000340
6770	71152974	Disease	p.Arg182Leu	VAR_005627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005627	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	111	cd08903	56243551,NP_000340
6770	71152974	Disease	p.Arg182Leu	VAR_005627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005627	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	136	pfam01852	56243551,NP_000340
6770	71152974	Disease	p.Arg182Leu	VAR_005627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005627	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	200	smart00234	56243551,NP_000340
6770	71152974	Disease	p.Arg182Leu	VAR_005627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005627	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	128	cd08876	56243551,NP_000340
6770	71152974	Disease	p.Arg182Leu	VAR_005627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005627	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	159	cd00177	56243551,NP_000340
6770	71152974	Disease	p.Arg217Thr	VAR_014238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014238	rs28938471 Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	152	cd08867	56243551,NP_000340
6770	71152974	Disease	p.Arg217Thr	VAR_014238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014238	rs28938471 Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	148	cd08905	56243551,NP_000340
6770	71152974	Disease	p.Arg217Thr	VAR_014238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014238	rs28938471 Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	150	cd08906	56243551,NP_000340
6770	71152974	Disease	p.Arg217Thr	VAR_014238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014238	rs28938471 Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	171	cd08868	56243551,NP_000340
6770	71152974	Disease	p.Arg217Thr	VAR_014238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014238	rs28938471 Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	145	cd08904	56243551,NP_000340
6770	71152974	Disease	p.Arg217Thr	VAR_014238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014238	rs28938471 Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	147	cd08903	56243551,NP_000340
6770	71152974	Disease	p.Arg217Thr	VAR_014238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014238	rs28938471 Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	182	pfam01852	56243551,NP_000340
6770	71152974	Disease	p.Arg217Thr	VAR_014238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014238	rs28938471 Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	260	smart00234	56243551,NP_000340
6770	71152974	Disease	p.Arg217Thr	VAR_014238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014238	rs28938471 Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	178	cd08876	56243551,NP_000340
6770	71152974	Disease	p.Arg217Thr	VAR_014238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014238	rs28938471 Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	218	cd00177	56243551,NP_000340
6770	71152974	Disease	p.Ala218Val	VAR_014239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014239	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	153	cd08867	56243551,NP_000340
6770	71152974	Disease	p.Ala218Val	VAR_014239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014239	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	149	cd08905	56243551,NP_000340
6770	71152974	Disease	p.Ala218Val	VAR_014239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014239	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	151	cd08906	56243551,NP_000340
6770	71152974	Disease	p.Ala218Val	VAR_014239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014239	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	172	cd08868	56243551,NP_000340
6770	71152974	Disease	p.Ala218Val	VAR_014239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014239	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	146	cd08904	56243551,NP_000340
6770	71152974	Disease	p.Ala218Val	VAR_014239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014239	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	148	cd08903	56243551,NP_000340
6770	71152974	Disease	p.Ala218Val	VAR_014239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014239	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	183	pfam01852	56243551,NP_000340
6770	71152974	Disease	p.Ala218Val	VAR_014239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014239	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	261	smart00234	56243551,NP_000340
6770	71152974	Disease	p.Ala218Val	VAR_014239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014239	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	179	cd08876	56243551,NP_000340
6770	71152974	Disease	p.Ala218Val	VAR_014239	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014239	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	219	cd00177	56243551,NP_000340
6770	71152974	Disease	p.Met225Thr	VAR_014240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014240	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	160	cd08867	56243551,NP_000340
6770	71152974	Disease	p.Met225Thr	VAR_014240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014240	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	156	cd08905	56243551,NP_000340
6770	71152974	Disease	p.Met225Thr	VAR_014240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014240	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	158	cd08906	56243551,NP_000340
6770	71152974	Disease	p.Met225Thr	VAR_014240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014240	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	179	cd08868	56243551,NP_000340
6770	71152974	Disease	p.Met225Thr	VAR_014240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014240	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	153	cd08904	56243551,NP_000340
6770	71152974	Disease	p.Met225Thr	VAR_014240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014240	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	155	cd08903	56243551,NP_000340
6770	71152974	Disease	p.Met225Thr	VAR_014240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014240	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	190	pfam01852	56243551,NP_000340
6770	71152974	Disease	p.Met225Thr	VAR_014240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014240	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	268	smart00234	56243551,NP_000340
6770	71152974	Disease	p.Met225Thr	VAR_014240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014240	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	186	cd08876	56243551,NP_000340
6770	71152974	Disease	p.Met225Thr	VAR_014240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014240	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	228	cd00177	56243551,NP_000340
6770	71152974	Disease	p.Leu275Pro	VAR_014242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014242	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	210	cd08867	56243551,NP_000340
6770	71152974	Disease	p.Leu275Pro	VAR_014242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014242	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	206	cd08905	56243551,NP_000340
6770	71152974	Disease	p.Leu275Pro	VAR_014242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014242	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	208	cd08906	56243551,NP_000340
6770	71152974	Disease	p.Leu275Pro	VAR_014242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014242	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	235	cd08868	56243551,NP_000340
6770	71152974	Disease	p.Leu275Pro	VAR_014242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014242	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	203	cd08904	56243551,NP_000340
6770	71152974	Disease	p.Leu275Pro	VAR_014242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014242	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	205	cd08903	56243551,NP_000340
6770	71152974	Disease	p.Leu275Pro	VAR_014242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014242	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	253	pfam01852	56243551,NP_000340
6770	71152974	Disease	p.Leu275Pro	VAR_014242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014242	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	341	smart00234	56243551,NP_000340
6770	71152974	Disease	p.Leu275Pro	VAR_014242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014242	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	239	cd08876	56243551,NP_000340
6770	71152974	Disease	p.Leu275Pro	VAR_014242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014242	- Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]	SWISS	296	cd00177	56243551,NP_000340
6772	2507413	Disease	p.Leu600Pro	VAR_018265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018265	- STAT1 deficiency [MIM:600555]	SWISS	35	pfam00017	6274552,NP_009330
6772	2507413	Disease	p.Leu600Pro	VAR_018265	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018265	- STAT1 deficiency [MIM:600555]	SWISS	42	cd00173	6274552,NP_009330
6772	2507413	Disease	p.Leu706Ser	VAR_018266	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018266	- Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]	SWISS	No Domain	N/A	6274552,NP_009330
6774	48429227	Disease	p.Arg382Leu	VAR_037365	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037365	- Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	SWISS	68	pfam02864	21618340,NP_644805
6774	48429227	Disease	p.Arg382Gln	VAR_037366	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037366	- Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	SWISS	68	pfam02864	21618340,NP_644805
6774	48429227	Disease	p.Arg382Trp	VAR_037367	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037367	- Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	SWISS	68	pfam02864	21618340,NP_644805
6774	48429227	Disease	p.Phe384Leu	VAR_037368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037368	- Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	SWISS	70	pfam02864	21618340,NP_644805
6774	48429227	Disease	p.Phe384Ser	VAR_037369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037369	- Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	SWISS	70	pfam02864	21618340,NP_644805
6774	48429227	Disease	p.Thr389Ile	VAR_037370	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037370	- Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	SWISS	75	pfam02864	21618340,NP_644805
6774	48429227	Disease	p.Arg423Gln	VAR_037371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037371	- Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	SWISS	110	pfam02864	21618340,NP_644805
6774	48429227	Disease	p.His437Tyr	VAR_037372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037372	- Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	SWISS	124	pfam02864	21618340,NP_644805
6774	48429227	Disease	p.Ser611Asn	VAR_037375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037375	- Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	SWISS	46	cd00173	21618340,NP_644805
6774	48429227	Disease	p.Ser611Asn	VAR_037375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037375	- Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	SWISS	39	pfam00017	21618340,NP_644805
6774	48429227	Disease	p.Phe621Val	VAR_037376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037376	- Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	SWISS	60	cd00173	21618340,NP_644805
6774	48429227	Disease	p.Phe621Val	VAR_037376	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037376	- Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	SWISS	52	pfam00017	21618340,NP_644805
6774	48429227	Disease	p.Thr622Ile	VAR_037377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037377	- Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	SWISS	61	cd00173	21618340,NP_644805
6774	48429227	Disease	p.Thr622Ile	VAR_037377	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037377	- Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	SWISS	53	pfam00017	21618340,NP_644805
6774	48429227	Disease	p.Val637Leu	VAR_037378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037378	- Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	SWISS	90	cd00173	21618340,NP_644805
6774	48429227	Disease	p.Val637Leu	VAR_037378	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037378	- Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	SWISS	69	pfam00017	21618340,NP_644805
6774	48429227	Disease	p.Val637Met	VAR_037379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037379	- Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	SWISS	90	cd00173	21618340,NP_644805
6774	48429227	Disease	p.Val637Met	VAR_037379	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037379	- Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	SWISS	69	pfam00017	21618340,NP_644805
6774	48429227	Disease	p.Tyr657Cys	VAR_037381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037381	- Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	SWISS	133	cd00173	21618340,NP_644805
6774	48429227	Disease	p.Tyr657Cys	VAR_037381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037381	- Hyperimmunoglobulin E recurrent infection syndrome autosomal dominant (AD-HIES) [MIM:147060]	SWISS	89	pfam00017	21618340,NP_644805
6777	41019536	Disease	p.Ala630Pro	VAR_018728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018728	- Laron type dwarfism II (LTD2) [MIM:245590]	SWISS	61	cd00173	21618344,NP_036580
6777	41019536	Disease	p.Ala630Pro	VAR_018728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018728	- Laron type dwarfism II (LTD2) [MIM:245590]	SWISS	53	pfam00017	21618344,NP_036580
6777	41019536	Disease	p.Ala630Pro	VAR_018728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018728	- Laron type dwarfism II (LTD2) [MIM:245590]	SWISS	133	smart00252	21618344,NP_036580
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	37	cd07877	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	39	cd06655	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	34	cd07850	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	28	cd06624	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	36	cd06636	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	35	cd07851	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	63	cd05622	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	63	cd05621	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	63	cd05596	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	42	cd07855	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	39	cd06648	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	26	cd05069	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	26	cd05071	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	29	cd07866	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	23	cd05036	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	33	cd05095	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	25	cd05058	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	13	cd05123	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	13	cd05585	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	9_G	cd05579	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	16	cd00180	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	13	cd05607	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	13	cd05577	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	13	cd05608	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	13	cd05572	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	15	cd05115	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd07853	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	13	cd05586	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	23_G	cd05600	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	26	cd05059	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	41	cd07876	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	37	cd07874	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	26	cd05034	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	41	cd06659	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	9	smart00220	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd07829	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	19	cd07830	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	22	cd07838	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	19	smart00221	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	23	cd06612	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	23	cd07840	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	19	cd07831	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	pfam00069	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	19	cd05118	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	22	cd06625	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	smart00219	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	28	cd05581	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	19	cd07835	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd05035	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	24	cd06616	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	29	cd05038	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	24	pfam07714	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	26	cd05148	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd05589	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd05601	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	19	cd05074	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	19	cd05075	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	42	cd06657	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	37	cd05101	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	40	cd06654	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	41	cd06633	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	35	cd07878	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	42	cd06639	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	35	cd07880	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	35	cd07879	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	40	cd06614	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	15	cd05618	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	15	cd05595	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	15	cd05591	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	15	cd05588	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	15	cd05575	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	26	cd07843	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	16	cd05085	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	15	cd05041	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	12	cd05084	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	15	cd05040	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	19	cd05582	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd05044	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd05037	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	15	cd05570	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	25	cd06620	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	15	cd05116	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	15	cd05620	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	15	cd05619	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	18	cd05604	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	15	cd05617	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	15	cd05592	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	12	cd05042	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	15	cd05590	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	15	cd05602	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	18	cd05060	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	16	cd05047	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	15	cd05593	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	16	cd00192	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	15	cd05594	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	15	cd05603	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	15	cd05571	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	30	cd05050	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	22	cd07834	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	23	cd05614	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd05605	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd05632	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd05630	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd05631	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd07861	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	16_G	cd08220	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd07836	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	27	cd06606	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd07863	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	16_G	cd08221	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	23	cd08530	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd06632	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd08528	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd08222	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd05578	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd07842	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd06627	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd07839	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd08529	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd06629	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	23	cd08218	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd08219	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd06631	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd08215	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd08223	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	23	cd08225	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd07860	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	23	cd08217	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd06628	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd06630	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	28	cd05081	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd07832	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd05616	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd05587	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	23	cd05613	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd07841	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	23	cd05583	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	28	cd05080	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd05615	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	26	cd06623	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	22	cd06653	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	28	cd05048	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	27	cd05122	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd05045	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd07859	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	22	cd06651	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20	cd07857	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	26	cd05090	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	26	cd05091	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	27	cd05108	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	26	cd06637	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	26	cd07873	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	19	cd08228	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	23	cd05083	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	19	cd08224	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	24	cd07872	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	23	cd07871	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	19	cd08229	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	25	cd07870	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	25	cd07869	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	28	cd05079	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	24	cd05065	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	39	cd06656	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	39	cd06647	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	41	cd05099	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	42	cd05098	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	25	cd06611	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	25	cd06643	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	24_G	cd05039	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20_G	cd07868	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd07867	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	38	cd06634	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	29	cd05113	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	29	cd06646	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	24	cd05093	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	35	cd06607	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	26	cd05068	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	26	cd05070	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	26	cd05072	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	53	cd05056	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	25	cd05073	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	35	cd07865	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	26	cd05067	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	30	cd05046	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	32	cd06644	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	19	cd05611	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	29	cd06645	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	24	cd06640	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	24	cd05574	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	27	cd07845	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	37	cd05053	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	33	cd05032	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	30	cd05092	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	30	cd05049	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	28	cd05064	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	41	cd05057	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd05573	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd07848	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd06610	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd07846	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd07833	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd07862	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	26	cd06608	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd05625	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd05598	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd05112	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd07847	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	31	cd05061	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd06622	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd05609	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	22	cd06609	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd05612	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	24	cd06641	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd07837	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	22	cd06652	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	31	cd05062	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	63	COG0515	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	26	cd05052	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd05623	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	23	cd05114	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd05628	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd06619	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd06917	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd05624	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd05597	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd06621	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd05580	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	33	cd05097	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	36	cd05100	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	45	cd06635	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	20_G	cd06605	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd06617	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd06626	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd06615	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	19	cd05584	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	21	cd05599	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	24	cd06642	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	44	cd07875	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	31_G	cd06618	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	23	cd06613	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	30	cd07856	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	25	cd07844	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	42	cd06658	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	25	cd07849	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	25	cd07854	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	38	cd06638	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	27	cd07864	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	26	cd07858	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	24	cd05082	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	14	cd05606	4507271,NP_000446
6794	3024670	Disease	p.Leu67Pro	VAR_006202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006202	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	14	cd05633	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	163	cd07877	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	158	cd06655	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	163	cd07850	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	157	cd06624	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	164	cd06636	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	177	cd07851	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	185	cd05622	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	185	cd05621	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	185	cd05596	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	171	cd07855	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	159	cd06648	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd05069	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd05071	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	174	cd07866	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	164	cd05036	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	184	cd05095	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	148	cd05058	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	659	cd05123	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	136	cd05585	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	144	cd05579	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	443	cd00180	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	138	cd05607	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	143	cd05577	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	140	cd05608	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	211	cd05572	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	138	cd05115	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	147	cd07853	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	139	cd05586	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd05600	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd05059	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	166	cd07876	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	162	cd07874	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	150	cd05034	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	160	cd06659	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	528	smart00220	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	193	cd07829	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	219	cd07830	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	170	cd07838	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	621	smart00221	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	158	cd06612	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	193	cd07840	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	150	cd07831	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	254	pfam00069	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	152	cd05118	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	149	cd06625	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	456	smart00219	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	259	cd05581	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	170	cd07835	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	166	cd05035	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	158	cd06616	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	175	cd05038	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	318	pfam07714	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	148	cd05148	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	144	cd05589	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd05601	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	156	cd05074	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	170	cd05075	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	159	cd06657	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	180	cd05101	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	159	cd06654	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	164	cd06633	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	161	cd07878	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	178	cd06639	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	161	cd07880	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	171	cd07879	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	195	cd06614	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	139	cd05618	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	138	cd05595	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	139	cd05591	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	139	cd05588	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	139	cd05575	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	162	cd07843	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	137	cd05085	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	139	cd05041	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	137	cd05084	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	151	cd05040	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	141	cd05582	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	160	cd05044	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	170	cd05037	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	141	cd05570	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	149	cd06620	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	138	cd05116	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	154	cd05620	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	139	cd05619	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	139	cd05604	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	139	cd05617	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	154	cd05592	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	146	cd05042	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	139	cd05590	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	139	cd05602	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd05060	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	155	cd05047	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	138	cd05593	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	363	cd00192	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	139	cd05594	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	139	cd05603	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	139	cd05571	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	152	cd07852	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	176	cd05050	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	189	cd07834	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	148	cd05614	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd05605	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd05632	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd05630	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd05631	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd07861	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	154	cd08220	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	146	cd07836	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	233	cd06606	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	154	cd07863	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd08221	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	152	cd08530	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	162	cd06632	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	166	cd08528	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	149	cd08222	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	144	cd05578	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	253	cd07842	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	153	cd06627	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	142	cd07839	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	149	cd08529	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	153	cd06629	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	144	cd08218	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	143	cd08219	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	147	cd06631	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	203	cd08215	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd08223	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd08225	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	143	cd07860	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	214	cd08217	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	151	cd06628	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	147	cd06630	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	151	cd05081	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	163	cd07832	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	144	cd05616	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	149	cd05587	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	161	cd05613	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	160	cd07841	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	148	cd05583	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	150	cd05080	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	144	cd05615	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	192	cd06623	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	149	cd06653	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	170	cd05048	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	178	cd05122	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	170	cd05045	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	146	cd07859	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	149	cd06651	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	152	cd07857	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	167	cd05090	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	167	cd05091	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	152	cd05108	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	154	cd06637	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	147	cd07873	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	149	cd08228	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	143	cd05083	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	150	cd08224	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	147	cd07872	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	146	cd07871	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	149	cd08229	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	146	cd07870	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	146	cd07869	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	152	cd05079	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	149	cd05065	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	158	cd06656	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	158	cd06647	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	177	cd05099	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	183	cd05098	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	148	cd06611	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	146	cd06643	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	149	cd05039	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	155	cd07868	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	155	cd07867	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	158	cd06634	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	144	cd05113	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	149	cd06646	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	163	cd05093	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	158	cd06607	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	148	cd05068	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd05070	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	146	cd05072	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	179	cd05056	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	146	cd05073	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	167	cd07865	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd05067	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	229	cd05046	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	153	cd06644	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	166	cd05611	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	149	cd06645	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	144	cd06640	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	166	cd05574	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	164	cd07845	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	193	cd05053	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	207	cd05032	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	165	cd05092	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	175	cd05049	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	150	cd05064	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	205	cd05057	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	200	cd05573	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	172	cd07848	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	155	cd06610	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	144	cd07846	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	170	cd07833	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	153	cd07862	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	186	cd06608	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	144	cd05625	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd05598	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	143	cd05112	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	149	cd07847	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	163	cd05061	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	159	cd06622	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	144	cd05609	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	167	cd06609	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	144	cd05612	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	144	cd06641	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	162	cd07837	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	173	cd06652	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	162	cd05062	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	663	COG0515	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	147	cd05052	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd05623	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	143	cd05114	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	144	cd05628	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	159	cd06619	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	154	cd06917	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd05624	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd05597	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	153	cd06621	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	197	cd05580	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	174	cd05097	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	177	cd05100	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	168	cd06635	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	162	cd06605	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	148	cd06617	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	146	cd06626	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd06615	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	147	cd05584	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	311	cd05599	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	144	cd06642	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	169	cd07875	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	162	cd06618	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	146	cd06613	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	151	cd07856	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	147	cd07844	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	161	cd06658	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	153	cd07849	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	170	cd07854	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	167	cd06638	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	161	cd07864	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	152	cd07858	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	145	cd05082	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	141	cd05606	4507271,NP_000446
6794	3024670	Disease	p.Asp194Asn	VAR_007921	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007921	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	140	cd05633	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	202	cd07877	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	199	cd06655	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	205	cd07850	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	200	cd06624	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	210	cd06636	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	220	cd07851	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	231	cd05622	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	231	cd05621	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	232	cd05596	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	222	cd07855	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	200	cd06648	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	187	cd05069	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	187	cd05071	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	234	cd07866	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	208	cd05036	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	227	cd05095	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	193	cd05058	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	796	cd05123	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	177	cd05585	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	728	cd05579	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	669	cd00180	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	179	cd05607	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	185	cd05577	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	181	cd05608	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	255	cd05572	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	182	cd05115	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	190	cd07853	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	181	cd05586	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	253	cd05600	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	187	cd05059	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	206	cd07876	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	202	cd07874	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	198	cd05034	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	201	cd06659	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	778	smart00220	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	239	cd07829	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	322	cd07830	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	233	cd07838	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	839	smart00221	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	204	cd06612	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	284	cd07840	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	191	cd07831	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	336	pfam00069	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	197	cd05118	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	194	cd06625	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	573	smart00219	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	435	cd05581	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	212	cd07835	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	209	cd05035	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	202	cd06616	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	222	cd05038	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	381	pfam07714	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	190	cd05148	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	185	cd05589	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	196	cd05601	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	199	cd05074	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	213	cd05075	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	200	cd06657	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	223	cd05101	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	200	cd06654	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	204	cd06633	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	200	cd07878	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	224	cd06639	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	200	cd07880	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	210	cd07879	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	238	cd06614	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	180	cd05618	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	179	cd05595	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	180	cd05591	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	180	cd05588	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	180	cd05575	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	208	cd07843	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	179	cd05085	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	182	cd05041	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	180	cd05084	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	197	cd05040	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	182	cd05582	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	203	cd05044	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	215	cd05037	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	182	cd05570	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	190	cd06620	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	182	cd05116	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	195	cd05620	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	180	cd05619	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	180	cd05604	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	180	cd05617	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	196	cd05592	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	197	cd05042	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	180	cd05590	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	180	cd05602	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	189	cd05060	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	195	cd05047	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	179	cd05593	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	422	cd00192	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	180	cd05594	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	180	cd05603	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	180	cd05571	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	213	cd07852	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	219	cd05050	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	273	cd07834	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	191	cd05614	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	185	cd05605	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	185	cd05632	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	185	cd05630	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	185	cd05631	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	187	cd07861	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	194	cd08220	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	188	cd07836	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	330	cd06606	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	194	cd07863	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	188	cd08221	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	192	cd08530	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	210	cd06632	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	207	cd08528	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	190	cd08222	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	195	cd05578	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	353	cd07842	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	229	cd06627	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	184	cd07839	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	190	cd08529	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	200	cd06629	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	185	cd08218	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	184	cd08219	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	194	cd06631	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	253	cd08215	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	186	cd08223	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	186	cd08225	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	185	cd07860	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	257	cd08217	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	200	cd06628	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	193	cd06630	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	195	cd05081	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	207	cd07832	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	185	cd05616	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	190	cd05587	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	205	cd05613	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	222	cd07841	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	193	cd05583	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	194	cd05080	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	185	cd05615	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	243	cd06623	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	193	cd06653	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	213	cd05048	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	229	cd05122	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	213	cd05045	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	197	cd07859	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	193	cd06651	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	202	cd07857	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	210	cd05090	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	210	cd05091	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	195	cd05108	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	200	cd06637	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	189	cd07873	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	190	cd08228	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	181	cd05083	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	191	cd08224	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	189	cd07872	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	188	cd07871	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	190	cd08229	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	188	cd07870	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	188	cd07869	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	196	cd05079	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	195	cd05065	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	199	cd06656	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	199	cd06647	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	220	cd05099	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	226	cd05098	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	194	cd06611	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	192	cd06643	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	190	cd05039	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	200	cd07868	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	200	cd07867	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	198	cd06634	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	186	cd05113	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	193	cd06646	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	206	cd05093	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	198	cd06607	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	193	cd05068	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	187	cd05070	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	188	cd05072	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	223	cd05056	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	188	cd05073	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	215	cd07865	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	187	cd05067	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	271	cd05046	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	199	cd06644	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	376	cd05611	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	193	cd06645	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	185	cd06640	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	281	cd05574	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	208	cd07845	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	236	cd05053	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	250	cd05032	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	208	cd05092	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	218	cd05049	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	193	cd05064	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	249	cd05057	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	329	cd05573	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	214	cd07848	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	208	cd06610	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	187	cd07846	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	244	cd07833	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	194	cd07862	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	237	cd06608	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	232	cd05625	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	245	cd05598	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	185	cd05112	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	192	cd07847	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	206	cd05061	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	209	cd06622	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	201	cd05609	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	215	cd06609	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	182	cd05612	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	185	cd06641	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	204	cd07837	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	217	cd06652	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	205	cd05062	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	876	COG0515	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	189	cd05052	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	192	cd05623	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	185	cd05114	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	220	cd05628	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	198	cd06619	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	198	cd06917	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	192	cd05624	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	194	cd05597	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	193	cd06621	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	247	cd05580	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	217	cd05097	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	220	cd05100	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	208	cd06635	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	208	cd06605	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	192	cd06617	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	231	cd06626	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	184	cd06615	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	188	cd05584	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	399	cd05599	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	185	cd06642	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	209	cd07875	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	207	cd06618	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	193	cd06613	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	190	cd07856	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	189	cd07844	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	202	cd06658	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	209	cd07849	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	215	cd07854	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	213	cd06638	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	205	cd07864	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	198	cd07858	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	183	cd05082	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	181	cd05606	4507271,NP_000446
6794	3024670	Disease	p.Trp239Cys	VAR_033142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033142	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	180	cd05633	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	291	cd07877	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	260	cd06655	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	309	cd07850	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	261	cd06624	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	270	cd06636	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	314	cd07851	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	295	cd05622	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	295	cd05621	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	296	cd05596	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	322	cd07855	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	262	cd06648	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	247	cd05069	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	247	cd05071	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	341	cd07866	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	268	cd05036	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	296	cd05095	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	253	cd05058	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	912	cd05123	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	235	cd05585	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	812	cd05579	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	851	cd00180	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	242	cd05607	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	248	cd05577	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	243	cd05608	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	325	cd05572	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	242	cd05115	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	291	cd07853	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	240	cd05586	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	324	cd05600	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	306	cd07876	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	302	cd07874	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	260	cd05034	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	262	cd06659	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	1197	smart00220	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	353	cd07829	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	384	cd07830	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	343	cd07838	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	1071	smart00221	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	267	cd06612	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	408	cd07840	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	288	cd07831	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	457	pfam00069	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	299	cd05118	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	254	cd06625	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	690	smart00219	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	518	cd05581	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	304	cd07835	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	270	cd05035	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	270	cd06616	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	316	cd05038	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	472	pfam07714	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	283	cd05148	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	243	cd05589	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	263	cd05601	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	259	cd05074	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	273	cd05075	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	261	cd06657	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	283	cd05101	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	261	cd06654	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	264	cd06633	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	289	cd07878	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	285	cd06639	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	257	cd07880	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	264	cd07879	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	299	cd06614	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	247	cd05618	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	237	cd05595	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	238	cd05591	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	247	cd05588	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	239	cd05575	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	328	cd07843	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	239	cd05085	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	242	cd05041	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	240	cd05084	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	259	cd05040	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	240	cd05582	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	263	cd05044	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	284	cd05037	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	249	cd05570	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	293	cd06620	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	242	cd05116	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	253	cd05620	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	238	cd05619	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	238	cd05604	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	245	cd05617	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	254	cd05592	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	246	cd05042	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	238	cd05590	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	238	cd05602	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	249	cd05060	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	255	cd05047	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	237	cd05593	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	510	cd00192	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	238	cd05594	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	238	cd05603	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	238	cd05571	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	306	cd07852	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	279	cd05050	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	449	cd07834	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	253	cd05614	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	247	cd05605	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	247	cd05632	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	247	cd05630	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	247	cd05631	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	281	cd07861	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	253	cd08220	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	283	cd07836	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	418	cd06606	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	279	cd07863	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	257	cd08221	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	252	cd08530	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	271	cd06632	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	267	cd08528	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	249	cd08222	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	271	cd05578	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	426	cd07842	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	291	cd06627	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	274	cd07839	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	253	cd08529	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	265	cd06629	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	244	cd08218	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	243	cd08219	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	255	cd06631	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	326	cd08215	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	245	cd08223	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	245	cd08225	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	272	cd07860	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	317	cd08217	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	260	cd06628	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	256	cd06630	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	270	cd05081	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	302	cd07832	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	243	cd05616	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	248	cd05587	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	267	cd05613	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	325	cd07841	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	255	cd05583	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	268	cd05080	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	243	cd05615	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	329	cd06623	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	251	cd06653	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	273	cd05048	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	342	cd05122	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	273	cd05045	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	248	cd07859	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	252	cd06651	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	293	cd07857	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	270	cd05090	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	270	cd05091	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	255	cd05108	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	260	cd06637	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	277	cd07873	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	252	cd08228	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	241	cd05083	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	254	cd08224	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	277	cd07872	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	276	cd07871	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	252	cd08229	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	247	cd07870	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	245	cd07869	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	270	cd05079	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	255	cd05065	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	260	cd06656	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	260	cd06647	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	280	cd05099	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	286	cd05098	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	255	cd06611	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	253	cd06643	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	251	cd05039	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	305	cd07868	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	263	cd07867	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	260	cd06634	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	246	cd05113	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	256	cd06646	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	266	cd05093	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	264	cd06607	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	253	cd05068	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	247	cd05070	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	248	cd05072	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	284	cd05056	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	248	cd05073	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	342	cd07865	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	273	cd05067	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	260	cd06644	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	443	cd05611	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	256	cd06645	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	244	cd06640	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	346	cd05574	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	304	cd07845	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	297	cd05053	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	314	cd05032	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	268	cd05092	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	281	cd05049	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	253	cd05064	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	329	cd05057	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	399	cd05573	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	304	cd07848	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	280	cd06610	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	295	cd07846	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	359	cd07833	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	283	cd07862	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	298	cd06608	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	293	cd05625	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	306	cd05598	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	245	cd05112	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	256	cd07847	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	266	cd05061	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	272	cd06622	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	263	cd05609	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	283	cd06609	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	241	cd05612	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	244	cd06641	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	290	cd07837	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	276	cd06652	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	265	cd05062	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	1173	COG0515	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	249	cd05052	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	254	cd05623	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	245	cd05114	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	281	cd05628	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	254	cd06619	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	261	cd06917	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	257	cd05624	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	262	cd05597	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	266	cd06621	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	310	cd05580	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	285	cd05097	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	281	cd05100	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	268	cd06635	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	329	cd06605	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	257	cd06617	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	296	cd06626	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	293	cd06615	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	246	cd05584	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	465	cd05599	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	244	cd06642	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	309	cd07875	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	273	cd06618	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	256	cd06613	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	279	cd07856	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	285	cd07844	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	263	cd06658	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	314	cd07849	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	314	cd07854	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	274	cd06638	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	294	cd07864	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	249	cd07858	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	243	cd05082	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	243	cd05606	4507271,NP_000446
6794	3024670	Disease	p.Arg297Lys	VAR_007922	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007922	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	241	cd05633	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	309	cd07877	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	278	cd06655	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	327	cd07850	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	336	cd07851	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	313	cd05622	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	311_G	cd05621	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	313_G	cd05596	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	341	cd07855	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	280	cd06648	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	254_G	cd05585	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	265	cd05607	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	272	cd05577	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	266	cd05608	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	324	cd07853	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	262	cd05586	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	346	cd05600	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	324	cd07876	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	320	cd07874	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	280	cd06659	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	295	cd06616	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	266	cd05589	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	289	cd05601	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	279	cd06657	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	301	cd05101	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	279	cd06654	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	282	cd06633	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	307	cd07878	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	273	cd07880	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	283	cd07879	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	319	cd06614	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	272	cd05618	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	258_G	cd05595	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	264	cd05591	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	275	cd05588	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	262	cd05575	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	261_G	cd05582	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	278	cd05570	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	313	cd06620	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	272	cd05620	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	257	cd05619	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	269	cd05604	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	270	cd05617	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	281	cd05592	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	262	cd05042	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	267	cd05590	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	269	cd05602	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	254_G	cd05593	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	255_G	cd05594	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	254_G	cd05603	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	261	cd05571	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	324	cd07852	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	469	cd07834	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	278	cd05614	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	285	cd05605	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	271	cd05632	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	271	cd05630	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	271	cd05631	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	270	cd05616	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	278	cd05587	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	292	cd05613	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	337_G	cd07841	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	280	cd05583	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	270	cd05615	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	348	cd06623	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	268	cd06653	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	266	cd07859	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	311	cd07857	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	271	cd05108	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	292_G	cd07873	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	295	cd07872	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	267	cd07870	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	265	cd07869	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	278	cd06656	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	278	cd06647	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	301	cd05099	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	282	cd06611	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	278	cd06643	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	286	cd07867	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	278	cd06634	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	284	cd05093	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	282	cd06607	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	285	cd06644	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	259_G	cd06640	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	378	cd05574	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	321	cd07845	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	458	cd05573	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	314	cd05625	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	328_G	cd05598	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	276	cd07847	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	282	cd05061	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	290	cd06622	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	284	cd05609	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	297_G	cd06609	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	268	cd05612	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	259_G	cd06641	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	1200	COG0515	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	268	cd05623	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	308	cd05628	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	271	cd06619	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	273_G	cd05624	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	278_G	cd05597	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	284	cd06621	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	344	cd05580	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	287_G	cd05100	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	286	cd06635	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	277	cd06617	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	311	cd06615	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	273	cd05584	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	489	cd05599	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	262	cd06642	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	327	cd07875	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	290	cd06618	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	297	cd07856	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	281	cd06658	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	332	cd07849	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	332	cd07854	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	268	cd07858	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	271	cd05606	4507271,NP_000446
6794	3024670	Disease	p.Pro315Ser	VAR_033144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033144	- Peutz-Jeghers syndrome (PJS) [MIM:175200]	SWISS	273	cd05633	4507271,NP_000446
219736	82592525	Disease	p.Arg18Pro	VAR_023784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023784	- Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404]	SWISS	No Domain	N/A	63025200,NP_689922|194328691,NP_001123633
219736	82592525	Disease	p.Tyr153His	VAR_023785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023785	rs1341667 Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404]	SWISS	43	pfam10264	63025200,NP_689922|194328691,NP_001123633
219736	82592525	Disease	p.Asn825Ile	VAR_023787	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023787	rs41278532 Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404]	SWISS	No Domain	N/A	63025200,NP_689922|194328691,NP_001123633
64220	74733466	Disease	p.Pro90Leu	VAR_037168	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037168	- Microphthalmia syndromic type 9 (MCOPS9) [MIM:601186]	SWISS	No Domain	N/A	217330580,NP_001136089|217330578,NP_071764|217330582,NP_001136090
64220	74733466	Disease	p.Pro293Leu	VAR_037169	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037169	- Microphthalmia syndromic type 9 (MCOPS9) [MIM:601186]	SWISS	No Domain	N/A	217330580,NP_001136089|217330578,NP_071764|217330582,NP_001136090
64220	74733466	Disease	p.Thr321Pro	VAR_037170	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037170	- Microphthalmia syndromic type 9 (MCOPS9) [MIM:601186]	SWISS	No Domain	N/A	217330580,NP_001136089|217330578,NP_071764|217330582,NP_001136090
64220	74733466	Disease	p.Thr644Met	VAR_037174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037174	- Microphthalmia syndromic type 9 (MCOPS9) [MIM:601186]	SWISS	No Domain	N/A	217330580,NP_001136089|217330578,NP_071764|217330582,NP_001136090
64220	74733466	Disease	p.Arg655Cys	VAR_037175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037175	- Microphthalmia syndromic type 9 (MCOPS9) [MIM:601186]	SWISS	No Domain	N/A	217330580,NP_001136089|217330578,NP_071764|217330582,NP_001136090
412	135006	Disease	p.Ser341Leu	VAR_007240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007240	- Ichthyosis X-linked (IXL) [MIM:308100]	SWISS	478	pfam00884	53831991,NP_000342
412	135006	Disease	p.Ser341Leu	VAR_007240	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007240	- Ichthyosis X-linked (IXL) [MIM:308100]	SWISS	403	COG3119	53831991,NP_000342
412	135006	Disease	p.Trp372Arg	VAR_007241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007241	- Ichthyosis X-linked (IXL) [MIM:308100]	SWISS	551	pfam00884	53831991,NP_000342
412	135006	Disease	p.Trp372Arg	VAR_007241	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007241	- Ichthyosis X-linked (IXL) [MIM:308100]	SWISS	476	COG3119	53831991,NP_000342
412	135006	Disease	p.Trp372Ser	VAR_014020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014020	- Ichthyosis X-linked (IXL) [MIM:308100]	SWISS	551	pfam00884	53831991,NP_000342
412	135006	Disease	p.Trp372Ser	VAR_014020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014020	- Ichthyosis X-linked (IXL) [MIM:308100]	SWISS	476	COG3119	53831991,NP_000342
412	135006	Disease	p.Gly380Arg	VAR_014021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014021	- Ichthyosis X-linked (IXL) [MIM:308100]	SWISS	559	pfam00884	53831991,NP_000342
412	135006	Disease	p.Gly380Arg	VAR_014021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014021	- Ichthyosis X-linked (IXL) [MIM:308100]	SWISS	484	COG3119	53831991,NP_000342
412	135006	Disease	p.His444Arg	VAR_014022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014022	- Ichthyosis X-linked (IXL) [MIM:308100]	SWISS	714	pfam00884	53831991,NP_000342
412	135006	Disease	p.His444Arg	VAR_014022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014022	- Ichthyosis X-linked (IXL) [MIM:308100]	SWISS	554	COG3119	53831991,NP_000342
412	135006	Disease	p.Cys446Tyr	VAR_007242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007242	- Ichthyosis X-linked (IXL) [MIM:308100]	SWISS	716	pfam00884	53831991,NP_000342
412	135006	Disease	p.Cys446Tyr	VAR_007242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007242	- Ichthyosis X-linked (IXL) [MIM:308100]	SWISS	561	COG3119	53831991,NP_000342
412	135006	Disease	p.Gln560Pro	VAR_014023	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014023	- Ichthyosis X-linked (IXL) [MIM:308100]	SWISS	No Domain	N/A	53831991,NP_000342
6812	50403646	Disease	p.Val84Asp	VAR_046205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046205	- Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164]	SWISS	136	pfam00995	73760415,NP_001027392
6812	50403646	Disease	p.Val84Asp	VAR_046205	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046205	- Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164]	SWISS	109	COG5158	73760415,NP_001027392
6812	50403646	Disease	p.Cys180Tyr	VAR_046206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046206	- Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164]	SWISS	507	pfam00995	73760415,NP_001027392
6812	50403646	Disease	p.Cys180Tyr	VAR_046206	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046206	- Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164]	SWISS	210	COG5158	73760415,NP_001027392
6812	50403646	Disease	p.Met443Arg	VAR_046207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046207	- Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164]	SWISS	1194	pfam00995	73760415,NP_001027392
6812	50403646	Disease	p.Met443Arg	VAR_046207	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046207	- Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164]	SWISS	522	COG5158	73760415,NP_001027392
6812	50403646	Disease	p.Gly544Asp	VAR_046208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046208	- Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164]	SWISS	1882	pfam00995	73760415,NP_001027392
6812	50403646	Disease	p.Gly544Asp	VAR_046208	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046208	- Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164]	SWISS	660	COG5158	73760415,NP_001027392
8803	94730427	Disease	p.Gly118Arg	VAR_046215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046215	- Encephalomyopathic mitochondrial DNA depletion syndrome with methylmalonic aciduria (EMDSMA) [MIM:612073]	SWISS	74	COG0045	11321583,NP_003841
8803	94730427	Disease	p.Gly118Arg	VAR_046215	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046215	- Encephalomyopathic mitochondrial DNA depletion syndrome with methylmalonic aciduria (EMDSMA) [MIM:612073]	SWISS	67	pfam08442	11321583,NP_003841
8803	94730427	Disease	p.Arg284Cys	VAR_046216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046216	- Encephalomyopathic mitochondrial DNA depletion syndrome with methylmalonic aciduria (EMDSMA) [MIM:612073]	SWISS	251	COG0045	11321583,NP_003841
285362	62298562	Disease	p.Leu20Phe	VAR_019050	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019050	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	No Domain	N/A	38202250,NP_877437
285362	62298562	Disease	p.Ser155Pro	VAR_016053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016053	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	204	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Ser155Pro	VAR_016053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016053	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	91	pfam03781	38202250,NP_877437
285362	62298562	Disease	p.Ala177Pro	VAR_019051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019051	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	221_G	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Ala177Pro	VAR_019051	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019051	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	121	pfam03781	38202250,NP_877437
285362	62298562	Disease	p.Trp179Ser	VAR_042602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042602	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	222	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Trp179Ser	VAR_042602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042602	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	131	pfam03781	38202250,NP_877437
285362	62298562	Disease	p.Cys218Tyr	VAR_016054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016054	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	271	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Cys218Tyr	VAR_016054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016054	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	170	pfam03781	38202250,NP_877437
285362	62298562	Disease	p.Arg224Trp	VAR_019052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019052	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	288	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Arg224Trp	VAR_019052	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019052	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	215	pfam03781	38202250,NP_877437
285362	62298562	Disease	p.Asn259Ile	VAR_019053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019053	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	326	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Asn259Ile	VAR_019053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019053	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	258	pfam03781	38202250,NP_877437
285362	62298562	Disease	p.Pro266Leu	VAR_019054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019054	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	338	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Pro266Leu	VAR_019054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019054	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	270	pfam03781	38202250,NP_877437
285362	62298562	Disease	p.Ala279Val	VAR_016055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016055	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	355	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Ala279Val	VAR_016055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016055	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	284	pfam03781	38202250,NP_877437
285362	62298562	Disease	p.Cys336Arg	VAR_016056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016056	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	444	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Cys336Arg	VAR_016056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016056	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	362	pfam03781	38202250,NP_877437
285362	62298562	Disease	p.Arg345Cys	VAR_016057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016057	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	458	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Arg345Cys	VAR_016057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016057	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	373	pfam03781	38202250,NP_877437
285362	62298562	Disease	p.Ala348Pro	VAR_016058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016058	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	461	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Ala348Pro	VAR_016058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016058	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	376	pfam03781	38202250,NP_877437
285362	62298562	Disease	p.Arg349Gln	VAR_016059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016059	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	462	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Arg349Gln	VAR_016059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016059	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	377	pfam03781	38202250,NP_877437
285362	62298562	Disease	p.Arg349Trp	VAR_016060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016060	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	462	COG1262	38202250,NP_877437
285362	62298562	Disease	p.Arg349Trp	VAR_016060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016060	- Multiple sulfatase deficiency (MSD) [MIM:272200]	SWISS	377	pfam03781	38202250,NP_877437
6821	152031695	Disease	p.Arg217Gln	VAR_002200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002200	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	28	cd02108	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg217Gln	VAR_002200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002200	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	16	cd02109	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg217Gln	VAR_002200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002200	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	33	cd02111	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg217Gln	VAR_002200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002200	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	5	cd02110	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg217Gln	VAR_002200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002200	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	18	cd02113	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg217Gln	VAR_002200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002200	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	3	cd00321	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg217Gln	VAR_002200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002200	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	51	cd02114	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg217Gln	VAR_002200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002200	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	86	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg217Gln	VAR_002200	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002200	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	48	cd02112	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ile258Leu	VAR_015724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015724	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	97	pfam00174	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ile258Leu	VAR_015724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015724	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	70	cd02108	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ile258Leu	VAR_015724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015724	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	59	cd02109	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ile258Leu	VAR_015724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015724	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	87	cd02111	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ile258Leu	VAR_015724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015724	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	59	cd02110	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ile258Leu	VAR_015724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015724	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	63	cd02113	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ile258Leu	VAR_015724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015724	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	86	cd00321	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ile258Leu	VAR_015724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015724	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	94	cd02114	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ile258Leu	VAR_015724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015724	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	142	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ile258Leu	VAR_015724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015724	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	105	cd02112	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala265Asp	VAR_002201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002201	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	110	pfam00174	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala265Asp	VAR_002201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002201	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	76_G	cd02108	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala265Asp	VAR_002201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002201	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	65_G	cd02109	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala265Asp	VAR_002201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002201	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	94	cd02111	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala265Asp	VAR_002201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002201	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	66	cd02110	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala265Asp	VAR_002201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002201	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	70	cd02113	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala265Asp	VAR_002201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002201	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	93	cd00321	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala265Asp	VAR_002201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002201	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	101	cd02114	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala265Asp	VAR_002201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002201	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	149	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ala265Asp	VAR_002201	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002201	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	112	cd02112	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg268Gln	VAR_015725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015725	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	125	pfam00174	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg268Gln	VAR_015725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015725	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	76_G	cd02108	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg268Gln	VAR_015725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015725	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	65_G	cd02109	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg268Gln	VAR_015725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015725	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	97	cd02111	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg268Gln	VAR_015725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015725	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	69	cd02110	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg268Gln	VAR_015725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015725	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	73	cd02113	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg268Gln	VAR_015725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015725	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	96	cd00321	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg268Gln	VAR_015725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015725	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	104	cd02114	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg268Gln	VAR_015725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015725	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	152	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg268Gln	VAR_015725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015725	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	115	cd02112	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly362Ser	VAR_015726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015726	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	514	pfam00174	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly362Ser	VAR_015726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015726	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	158	cd02108	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly362Ser	VAR_015726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015726	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	146	cd02109	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly362Ser	VAR_015726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015726	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	226	cd02111	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly362Ser	VAR_015726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015726	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	181	cd02110	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly362Ser	VAR_015726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015726	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	165	cd02113	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly362Ser	VAR_015726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015726	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	236	cd00321	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly362Ser	VAR_015726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015726	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	194	cd02114	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly362Ser	VAR_015726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015726	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	290	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly362Ser	VAR_015726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015726	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	225	cd02112	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg366His	VAR_015727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015727	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	518	pfam00174	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg366His	VAR_015727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015727	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	162	cd02108	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg366His	VAR_015727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015727	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	150	cd02109	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg366His	VAR_015727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015727	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	230	cd02111	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg366His	VAR_015727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015727	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	185	cd02110	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg366His	VAR_015727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015727	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	169	cd02113	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg366His	VAR_015727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015727	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	240	cd00321	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg366His	VAR_015727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015727	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	198	cd02114	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg366His	VAR_015727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015727	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	294	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Arg366His	VAR_015727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015727	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	229	cd02112	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Lys379Arg	VAR_015728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015728	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	534	pfam00174	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Lys379Arg	VAR_015728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015728	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	175	cd02108	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Lys379Arg	VAR_015728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015728	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	164	cd02109	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Lys379Arg	VAR_015728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015728	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	243	cd02111	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Lys379Arg	VAR_015728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015728	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	199	cd02110	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Lys379Arg	VAR_015728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015728	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	182	cd02113	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Lys379Arg	VAR_015728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015728	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	254	cd00321	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Lys379Arg	VAR_015728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015728	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	211	cd02114	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Lys379Arg	VAR_015728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015728	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	307	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Lys379Arg	VAR_015728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015728	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	242	cd02112	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gln396Arg	VAR_015729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015729	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	576	pfam00174	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gln396Arg	VAR_015729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015729	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	198	cd02108	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gln396Arg	VAR_015729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015729	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	181	cd02109	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gln396Arg	VAR_015729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015729	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	260	cd02111	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gln396Arg	VAR_015729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015729	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	216	cd02110	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gln396Arg	VAR_015729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015729	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	195	cd02113	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gln396Arg	VAR_015729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015729	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	228	cd02114	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gln396Arg	VAR_015729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015729	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	324	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gln396Arg	VAR_015729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015729	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	259	cd02112	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser427Tyr	VAR_002202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002202	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	301	cd02111	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser427Tyr	VAR_002202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002202	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	258	cd02110	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser427Tyr	VAR_002202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002202	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	223	cd02113	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser427Tyr	VAR_002202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002202	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	13	pfam03404	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser427Tyr	VAR_002202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002202	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	264	cd02114	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser427Tyr	VAR_002202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002202	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	364	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Ser427Tyr	VAR_002202	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002202	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	300	cd02112	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Trp450Arg	VAR_015730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015730	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	375	cd02111	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Trp450Arg	VAR_015730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015730	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	288	cd02110	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Trp450Arg	VAR_015730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015730	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	247	cd02113	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Trp450Arg	VAR_015730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015730	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	45	pfam03404	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Trp450Arg	VAR_015730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015730	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	289	cd02114	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Trp450Arg	VAR_015730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015730	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	387	COG2041	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Trp450Arg	VAR_015730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015730	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	332	cd02112	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly530Asp	VAR_002203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002203	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	475	cd02111	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly530Asp	VAR_002203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002203	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	379	cd02110	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly530Asp	VAR_002203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002203	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	319	cd02113	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly530Asp	VAR_002203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002203	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	148	pfam03404	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly530Asp	VAR_002203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002203	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	361	cd02114	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6821	152031695	Disease	p.Gly530Asp	VAR_002203	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_002203	- Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]	SWISS	432	cd02112	74099702,NP_001027558|74099694,NP_000447|74099704,NP_001027559
6834	2498973	Disease	p.Gly124Glu	VAR_007450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007450	rs28933402 Leigh syndrome (LS) [MIM:256000]	SWISS	202	pfam02104	4507319,NP_003163
6834	2498973	Disease	p.Gly124Glu	VAR_007450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007450	rs28933402 Leigh syndrome (LS) [MIM:256000]	SWISS	76	cd06662	4507319,NP_003163
6834	2498973	Disease	p.Gly124Glu	VAR_007450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007450	rs28933402 Leigh syndrome (LS) [MIM:256000]	SWISS	84	COG3346	4507319,NP_003163
6834	2498973	Disease	p.Gly124Arg	VAR_015258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015258	- Leigh syndrome (LS) [MIM:256000]	SWISS	202	pfam02104	4507319,NP_003163
6834	2498973	Disease	p.Gly124Arg	VAR_015258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015258	- Leigh syndrome (LS) [MIM:256000]	SWISS	76	cd06662	4507319,NP_003163
6834	2498973	Disease	p.Gly124Arg	VAR_015258	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015258	- Leigh syndrome (LS) [MIM:256000]	SWISS	84	COG3346	4507319,NP_003163
6834	2498973	Disease	p.Ile246Thr	VAR_007452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007452	- Leigh syndrome (LS) [MIM:256000]	SWISS	634	pfam02104	4507319,NP_003163
6834	2498973	Disease	p.Ile246Thr	VAR_007452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007452	- Leigh syndrome (LS) [MIM:256000]	SWISS	267	cd06662	4507319,NP_003163
6834	2498973	Disease	p.Ile246Thr	VAR_007452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007452	- Leigh syndrome (LS) [MIM:256000]	SWISS	210	COG3346	4507319,NP_003163
6834	2498973	Disease	p.Tyr274Asp	VAR_015259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015259	- Leigh syndrome (LS) [MIM:256000]	SWISS	838	pfam02104	4507319,NP_003163
6834	2498973	Disease	p.Tyr274Asp	VAR_015259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015259	- Leigh syndrome (LS) [MIM:256000]	SWISS	362	cd06662	4507319,NP_003163
6834	2498973	Disease	p.Tyr274Asp	VAR_015259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015259	- Leigh syndrome (LS) [MIM:256000]	SWISS	299	COG3346	4507319,NP_003163
23345	257051067	Disease	p.Arg8095His	VAR_062974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062974	- Emery-Dreifuss muscular dystrophy type 4 (EDMD4) [MIM:612998]	SWISS	342	smart00150	154277116,NP_892006
23345	257051067	Disease	p.Arg8095His	VAR_062974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062974	- Emery-Dreifuss muscular dystrophy type 4 (EDMD4) [MIM:612998]	SWISS	121	cd00176	154277116,NP_892006
23345	257051067	Disease	p.Val8387Leu	VAR_062975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062975	- Emery-Dreifuss muscular dystrophy type 4 (EDMD4) [MIM:612998]	SWISS	No Domain	N/A	154277116,NP_892006
23345	257051067	Disease	p.Glu8461Lys	VAR_062976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062976	- Emery-Dreifuss muscular dystrophy type 4 (EDMD4) [MIM:612998]	SWISS	21	cd00176	154277116,NP_892006
23345	257051067	Disease	p.Glu8461Lys	VAR_062976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062976	- Emery-Dreifuss muscular dystrophy type 4 (EDMD4) [MIM:612998]	SWISS	26	smart00150	154277116,NP_892006
23345	257051067	Disease	p.Glu8461Lys	VAR_062976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062976	- Emery-Dreifuss muscular dystrophy type 4 (EDMD4) [MIM:612998]	SWISS	23	pfam00435	154277116,NP_892006
23224	116242809	Disease	p.Thr6211Met	VAR_062977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062977	- Emery-Dreifuss muscular dystrophy type 5 (EDMD5) [MIM:612999]	SWISS	100	cd00176	118918403,NP_055995
23224	116242809	Disease	p.Thr6211Met	VAR_062977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062977	- Emery-Dreifuss muscular dystrophy type 5 (EDMD5) [MIM:612999]	SWISS	250	smart00150	118918403,NP_055995
6855	135162	Disease	p.Gly217Arg	VAR_062986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062986	- Mental retardation X-linked SYP-related (MRXSYP) [MIM:300802]	SWISS	243	pfam01284	NULL
23118	74753070	Disease	p.Pro208Ser	VAR_063774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063774	- Congenital heart disease non-syndromic type 2 (CHTD2) [MIM:612863]	SWISS	No Domain	N/A	14149669,NP_055908
23118	74753070	Disease	p.Gln230Lys	VAR_063775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063775	- Congenital heart disease non-syndromic type 2 (CHTD2) [MIM:612863]	SWISS	No Domain	N/A	14149669,NP_055908
23435	20140568	Disease	p.Asp169Gly	VAR_045657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045657	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	74	pfam00076	6678271,NP_031401
23435	20140568	Disease	p.Asp169Gly	VAR_045657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045657	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	171	smart00360	6678271,NP_031401
23435	20140568	Disease	p.Asp169Gly	VAR_045657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045657	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	167	cd00590	6678271,NP_031401
23435	20140568	Disease	p.Asp169Gly	VAR_045657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045657	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	164	smart00362	6678271,NP_031401
23435	20140568	Disease	p.Asn267Ser	VAR_058611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058611	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Gly287Ser	VAR_045658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045658	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Gly290Ala	VAR_045659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045659	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Gly294Ala	VAR_045660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045660	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Gly294Val	VAR_058612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058612	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Gly295Arg	VAR_058613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058613	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Gly295Ser	VAR_058614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058614	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Gly298Ser	VAR_045661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045661	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Ala315Thr	VAR_045662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045662	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Gln331Lys	VAR_045663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045663	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Ser332Asn	VAR_058615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058615	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Gly335Asp	VAR_058616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058616	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Met337Val	VAR_045664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045664	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Gln343Arg	VAR_062767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062767	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Gly348Cys	VAR_045665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045665	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Arg361Ser	VAR_045666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045666	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Ser379Cys	VAR_058617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058617	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Ser379Pro	VAR_058618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058618	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Ala382Thr	VAR_045667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045667	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Asn390Asp	VAR_045668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045668	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Asn390Ser	VAR_045669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045669	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
23435	20140568	Disease	p.Ser393Leu	VAR_058619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058619	- Amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]	SWISS	No Domain	N/A	6678271,NP_031401
6898	114713	Disease	p.Gly362Val	VAR_000560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000560	rs28934277 Tyrosinemia type 2 (TYRO2) [MIM:276600]	SWISS	428	cd00609	4507369,NP_000344
6898	114713	Disease	p.Gly362Val	VAR_000560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000560	rs28934277 Tyrosinemia type 2 (TYRO2) [MIM:276600]	SWISS	346_G	COG3977	4507369,NP_000344
6898	114713	Disease	p.Gly362Val	VAR_000560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000560	rs28934277 Tyrosinemia type 2 (TYRO2) [MIM:276600]	SWISS	410	pfam00155	4507369,NP_000344
6898	114713	Disease	p.Gly362Val	VAR_000560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000560	rs28934277 Tyrosinemia type 2 (TYRO2) [MIM:276600]	SWISS	335	COG1168	4507369,NP_000344
6898	114713	Disease	p.Gly362Val	VAR_000560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000560	rs28934277 Tyrosinemia type 2 (TYRO2) [MIM:276600]	SWISS	356	COG0079	4507369,NP_000344
6898	114713	Disease	p.Gly362Val	VAR_000560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000560	rs28934277 Tyrosinemia type 2 (TYRO2) [MIM:276600]	SWISS	468	COG1167	4507369,NP_000344
6898	114713	Disease	p.Gly362Val	VAR_000560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_000560	rs28934277 Tyrosinemia type 2 (TYRO2) [MIM:276600]	SWISS	459	COG0436	4507369,NP_000344
6901	2498992	Disease	p.Arg94Ser	VAR_014110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014110	- 3-methylglutaconic aciduria type 2 (MGA2) [MIM:302060]	SWISS	62	cd07992	4507371,NP_000107
6901	2498992	Disease	p.Arg94Ser	VAR_014110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014110	- 3-methylglutaconic aciduria type 2 (MGA2) [MIM:302060]	SWISS	123	smart00563	4507371,NP_000107
6901	2498992	Disease	p.Arg94Ser	VAR_014110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014110	- 3-methylglutaconic aciduria type 2 (MGA2) [MIM:302060]	SWISS	113	cd07989	4507371,NP_000107
6901	2498992	Disease	p.Arg94Ser	VAR_014110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014110	- 3-methylglutaconic aciduria type 2 (MGA2) [MIM:302060]	SWISS	68	pfam01553	4507371,NP_000107
6901	2498992	Disease	p.Cys118Arg	VAR_014111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014111	- Left ventricular non-compaction X-linked (LVNCX) [MIM:300183]	SWISS	84	cd07992	4507371,NP_000107
6901	2498992	Disease	p.Cys118Arg	VAR_014111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014111	- Left ventricular non-compaction X-linked (LVNCX) [MIM:300183]	SWISS	168	smart00563	4507371,NP_000107
6901	2498992	Disease	p.Cys118Arg	VAR_014111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014111	- Left ventricular non-compaction X-linked (LVNCX) [MIM:300183]	SWISS	157	cd07989	4507371,NP_000107
6901	2498992	Disease	p.Cys118Arg	VAR_014111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014111	- Left ventricular non-compaction X-linked (LVNCX) [MIM:300183]	SWISS	97	pfam01553	4507371,NP_000107
6901	2498992	Disease	p.Gly197Arg	VAR_014112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014112	- Left ventricular non-compaction X-linked (LVNCX) [MIM:300183]	SWISS	249	cd07992	4507371,NP_000107
6901	2498992	Disease	p.Gly197Arg	VAR_014112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014112	- Left ventricular non-compaction X-linked (LVNCX) [MIM:300183]	SWISS	385	smart00563	4507371,NP_000107
6901	2498992	Disease	p.Gly197Arg	VAR_014112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014112	- Left ventricular non-compaction X-linked (LVNCX) [MIM:300183]	SWISS	255	cd07989	4507371,NP_000107
6901	2498992	Disease	p.Gly197Arg	VAR_014112	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014112	- Left ventricular non-compaction X-linked (LVNCX) [MIM:300183]	SWISS	234	pfam01553	4507371,NP_000107
6899	6175055	Disease	p.Phe148Tyr	VAR_035025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035025	rs28939675 Conotruncal heart malformations (CTHM) [MIM:217095]	SWISS	43	cd00182	18104950,NP_542377
6899	6175055	Disease	p.Phe148Tyr	VAR_035025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035025	rs28939675 Conotruncal heart malformations (CTHM) [MIM:217095]	SWISS	38	pfam00907	18104950,NP_542377
6899	6175055	Disease	p.Phe148Tyr	VAR_035025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035025	rs28939675 Conotruncal heart malformations (CTHM) [MIM:217095]	SWISS	42	smart00425	18104950,NP_542377
6899	6175055	Disease	p.Phe148Tyr	VAR_035025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035025	rs28939675 Velocardiofacial syndrome (VCFS) [MIM:192430]	SWISS	43	cd00182	18104950,NP_542377
6899	6175055	Disease	p.Phe148Tyr	VAR_035025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035025	rs28939675 Velocardiofacial syndrome (VCFS) [MIM:192430]	SWISS	38	pfam00907	18104950,NP_542377
6899	6175055	Disease	p.Phe148Tyr	VAR_035025	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035025	rs28939675 Velocardiofacial syndrome (VCFS) [MIM:192430]	SWISS	42	smart00425	18104950,NP_542377
6899	6175055	Disease	p.His194Gln	VAR_035026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035026	- Velocardiofacial syndrome (VCFS) [MIM:192430]	SWISS	97	cd00182	18104950,NP_542377
6899	6175055	Disease	p.His194Gln	VAR_035026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035026	- Velocardiofacial syndrome (VCFS) [MIM:192430]	SWISS	89	pfam00907	18104950,NP_542377
6899	6175055	Disease	p.His194Gln	VAR_035026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035026	- Velocardiofacial syndrome (VCFS) [MIM:192430]	SWISS	105	smart00425	18104950,NP_542377
6899	6175055	Disease	p.Gly310Ser	VAR_034545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034545	rs41298838 DiGeorge syndrome (DGS) [MIM:188400]	SWISS	No Domain	N/A	18104950,NP_542377
9095	6226281	Disease	p.Ser128Phe	VAR_018387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018387	- ACTH deficiency (ACTHD) [MIM:201400]	SWISS	94	pfam00907	4827024,NP_005140
9095	6226281	Disease	p.Ser128Phe	VAR_018387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018387	- ACTH deficiency (ACTHD) [MIM:201400]	SWISS	102	cd00182	4827024,NP_005140
9095	6226281	Disease	p.Ser128Phe	VAR_018387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018387	- ACTH deficiency (ACTHD) [MIM:201400]	SWISS	110	smart00425	4827024,NP_005140
57057	118572725	Disease	p.Ile152Met	VAR_036995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036995	- Atrial septal defect type 4 (ASD4) [MIM:611363]	SWISS	61	cd00182	261337146,NP_001159692
57057	118572725	Disease	p.Ile152Met	VAR_036995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036995	- Atrial septal defect type 4 (ASD4) [MIM:611363]	SWISS	56	pfam00907	261337146,NP_001159692
57057	118572725	Disease	p.Ile152Met	VAR_036995	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036995	- Atrial septal defect type 4 (ASD4) [MIM:611363]	SWISS	60	smart00425	261337146,NP_001159692
50945	28381405	Disease	p.Gly118Cys	VAR_015383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015383	- X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]	SWISS	30	smart00425	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Gly118Cys	VAR_015383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015383	- X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]	SWISS	26	pfam00907	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Gly118Cys	VAR_015383	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015383	- X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]	SWISS	31	cd00182	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Met121Val	VAR_021831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021831	- X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]	SWISS	33	smart00425	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Met121Val	VAR_021831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021831	- X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]	SWISS	29	pfam00907	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Met121Val	VAR_021831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021831	- X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]	SWISS	34	cd00182	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Pro183Leu	VAR_021832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021832	- X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]	SWISS	111	smart00425	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Pro183Leu	VAR_021832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021832	- X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]	SWISS	95	pfam00907	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Pro183Leu	VAR_021832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021832	- X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]	SWISS	103	cd00182	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Leu214Pro	VAR_021829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021829	- X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]	SWISS	206	smart00425	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Leu214Pro	VAR_021829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021829	- X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]	SWISS	132	pfam00907	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Leu214Pro	VAR_021829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021829	- X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]	SWISS	137	cd00182	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Thr260Met	VAR_015384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015384	- X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]	SWISS	277	smart00425	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Thr260Met	VAR_015384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015384	- X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]	SWISS	182	pfam00907	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Thr260Met	VAR_015384	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015384	- X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]	SWISS	192	cd00182	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Asn264Tyr	VAR_021830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021830	rs28935177 X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]	SWISS	281	smart00425	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Asn264Tyr	VAR_021830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021830	rs28935177 X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]	SWISS	186	pfam00907	158187509,NP_001103348|18375603,NP_058650
50945	28381405	Disease	p.Asn264Tyr	VAR_021830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021830	rs28935177 X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]	SWISS	196	cd00182	158187509,NP_001103348|18375603,NP_058650
6926	28381401	Disease	p.Leu143Pro	VAR_009601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009601	- Ulnar-mammary syndrome (UMS) [MIM:181450]	SWISS	44	pfam00907	47419907,NP_057653
6926	28381401	Disease	p.Leu143Pro	VAR_009601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009601	- Ulnar-mammary syndrome (UMS) [MIM:181450]	SWISS	48	smart00425	47419907,NP_057653
6926	28381401	Disease	p.Leu143Pro	VAR_009601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009601	- Ulnar-mammary syndrome (UMS) [MIM:181450]	SWISS	49	cd00182	47419907,NP_057653
6926	28381401	Disease	p.Tyr149Ser	VAR_009602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009602	- Ulnar-mammary syndrome (UMS) [MIM:181450]	SWISS	50	pfam00907	47419907,NP_057653
6926	28381401	Disease	p.Tyr149Ser	VAR_009602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009602	- Ulnar-mammary syndrome (UMS) [MIM:181450]	SWISS	54	smart00425	47419907,NP_057653
6926	28381401	Disease	p.Tyr149Ser	VAR_009602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009602	- Ulnar-mammary syndrome (UMS) [MIM:181450]	SWISS	55	cd00182	47419907,NP_057653
9496	51338786	Disease	p.Gly248Val	VAR_026745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026745	rs28938474 Small patella syndrome (SPS) [MIM:147891]	SWISS	297	smart00425	18129690,NP_060958
9496	51338786	Disease	p.Gly248Val	VAR_026745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026745	rs28938474 Small patella syndrome (SPS) [MIM:147891]	SWISS	212	cd00182	18129690,NP_060958
9496	51338786	Disease	p.Gly248Val	VAR_026745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026745	rs28938474 Small patella syndrome (SPS) [MIM:147891]	SWISS	202	pfam00907	18129690,NP_060958
9496	51338786	Disease	p.Gln531Arg	VAR_026746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026746	rs28936696 Small patella syndrome (SPS) [MIM:147891]	SWISS	No Domain	N/A	18129690,NP_060958
6910	12644474	Disease	p.Gln49Lys	VAR_015381	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015381	- Holt-Oram syndrome (HOS) [MIM:142900]	SWISS	No Domain	N/A	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Ile54Thr	VAR_015382	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015382	- Holt-Oram syndrome (HOS) [MIM:142900]	SWISS	2	cd00182	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Gly80Arg	VAR_009701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009701	- Holt-Oram syndrome (HOS) [MIM:142900]	SWISS	31	cd00182	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Gly80Arg	VAR_009701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009701	- Holt-Oram syndrome (HOS) [MIM:142900]	SWISS	30	smart00425	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Gly80Arg	VAR_009701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009701	- Holt-Oram syndrome (HOS) [MIM:142900]	SWISS	26	pfam00907	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Arg237Gln	VAR_007456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007456	- Holt-Oram syndrome (HOS) [MIM:142900]	SWISS	214	cd00182	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Arg237Gln	VAR_007456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007456	- Holt-Oram syndrome (HOS) [MIM:142900]	SWISS	299	smart00425	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Arg237Gln	VAR_007456	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007456	- Holt-Oram syndrome (HOS) [MIM:142900]	SWISS	204	pfam00907	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Arg237Trp	VAR_009702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009702	- Holt-Oram syndrome (HOS) [MIM:142900]	SWISS	214	cd00182	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Arg237Trp	VAR_009702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009702	- Holt-Oram syndrome (HOS) [MIM:142900]	SWISS	299	smart00425	31652232,NP_852259|18201892,NP_000183
6910	12644474	Disease	p.Arg237Trp	VAR_009702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009702	- Holt-Oram syndrome (HOS) [MIM:142900]	SWISS	204	pfam00907	31652232,NP_852259|18201892,NP_000183
6916	254763392	Disease	p.Leu82Pro	VAR_044386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044386	- Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]	SWISS	48	pfam00067	NULL
6916	254763392	Disease	p.Leu82Pro	VAR_044386	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044386	- Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]	SWISS	51	COG2124	NULL
6916	254763392	Disease	p.Arg412Gln	VAR_044388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044388	- Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]	SWISS	415	pfam00067	NULL
6916	254763392	Disease	p.Arg412Gln	VAR_044388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044388	- Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]	SWISS	416	COG2124	NULL
6916	254763392	Disease	p.Gly481Trp	VAR_044389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044389	- Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]	SWISS	507	pfam00067	NULL
6916	254763392	Disease	p.Gly481Trp	VAR_044389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044389	- Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]	SWISS	514	COG2124	NULL
6916	254763392	Disease	p.Leu487Pro	VAR_044390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044390	- Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]	SWISS	513	pfam00067	NULL
6916	254763392	Disease	p.Leu487Pro	VAR_044390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044390	- Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]	SWISS	520	COG2124	NULL
8557	3024716	Disease	p.Arg70Trp	VAR_026650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026650	- Cardiomyopathy dilated type 1N (CMD1N) [MIM:607487]	SWISS	70	pfam09470	4507435,NP_003664
8557	3024716	Disease	p.Arg87Gln	VAR_015397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015397	- Cardiomyopathy dilated type 1N (CMD1N) [MIM:607487]	SWISS	87	pfam09470	4507435,NP_003664
8557	3024716	Disease	p.Pro90Leu	VAR_026651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026651	- Cardiomyopathy dilated type 1N (CMD1N) [MIM:607487]	SWISS	90	pfam09470	4507435,NP_003664
8557	3024716	Disease	p.Glu132Gln	VAR_029446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029446	- Cardiomyopathy dilated type 1N (CMD1N) [MIM:607487]	SWISS	132	pfam09470	4507435,NP_003664
8557	3024716	Disease	p.Thr137Ile	VAR_029447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029447	- Cardiomyopathy familial hypertrophic (CMH) [MIM:192600]	SWISS	137	pfam09470	4507435,NP_003664
8557	3024716	Disease	p.Arg153His	VAR_029448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029448	- Cardiomyopathy familial hypertrophic (CMH) [MIM:192600]	SWISS	153	pfam09470	4507435,NP_003664
6925	3915747	Disease	p.Asp535Gly	VAR_058632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058632	- Pitt-Hopkins syndrome (PTHS) [MIM:610954]	SWISS	No Domain	N/A	4507399,NP_003190
6925	3915747	Disease	p.Arg572Gly	VAR_058633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058633	- Pitt-Hopkins syndrome (PTHS) [MIM:610954]	SWISS	11	cd00083	4507399,NP_003190
6925	3915747	Disease	p.Arg572Gly	VAR_058633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058633	- Pitt-Hopkins syndrome (PTHS) [MIM:610954]	SWISS	8	pfam00010	4507399,NP_003190
6925	3915747	Disease	p.Arg572Gly	VAR_058633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058633	- Pitt-Hopkins syndrome (PTHS) [MIM:610954]	SWISS	3	smart00353	4507399,NP_003190
6925	3915747	Disease	p.Arg576Gln	VAR_034704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034704	- Pitt-Hopkins syndrome (PTHS) [MIM:610954]	SWISS	15	cd00083	4507399,NP_003190
6925	3915747	Disease	p.Arg576Gln	VAR_034704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034704	- Pitt-Hopkins syndrome (PTHS) [MIM:610954]	SWISS	12	pfam00010	4507399,NP_003190
6925	3915747	Disease	p.Arg576Gln	VAR_034704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034704	- Pitt-Hopkins syndrome (PTHS) [MIM:610954]	SWISS	10	smart00353	4507399,NP_003190
6925	3915747	Disease	p.Arg576Trp	VAR_034705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034705	- Pitt-Hopkins syndrome (PTHS) [MIM:610954]	SWISS	15	cd00083	4507399,NP_003190
6925	3915747	Disease	p.Arg576Trp	VAR_034705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034705	- Pitt-Hopkins syndrome (PTHS) [MIM:610954]	SWISS	12	pfam00010	4507399,NP_003190
6925	3915747	Disease	p.Arg576Trp	VAR_034705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034705	- Pitt-Hopkins syndrome (PTHS) [MIM:610954]	SWISS	10	smart00353	4507399,NP_003190
6925	3915747	Disease	p.Ala610Val	VAR_058634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058634	- Pitt-Hopkins syndrome (PTHS) [MIM:610954]	SWISS	81	cd00083	4507399,NP_003190
6925	3915747	Disease	p.Ala610Val	VAR_058634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058634	- Pitt-Hopkins syndrome (PTHS) [MIM:610954]	SWISS	85	pfam00010	4507399,NP_003190
6925	3915747	Disease	p.Ala610Val	VAR_058634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058634	- Pitt-Hopkins syndrome (PTHS) [MIM:610954]	SWISS	119	smart00353	4507399,NP_003190
10312	223634720	Disease	p.Ala141Pro	VAR_020988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020988	- Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700]	SWISS	182	COG1269	19924145,NP_006010
10312	223634720	Disease	p.Ala141Pro	VAR_020988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020988	- Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700]	SWISS	136	pfam01496	19924145,NP_006010
10312	223634720	Disease	p.Gly405Arg	VAR_019569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019569	- Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700]	SWISS	518	COG1269	19924145,NP_006010
10312	223634720	Disease	p.Gly405Arg	VAR_019569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019569	- Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700]	SWISS	462	pfam01496	19924145,NP_006010
10312	223634720	Disease	p.Arg444Leu	VAR_019570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019570	- Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700]	SWISS	557	COG1269	19924145,NP_006010
10312	223634720	Disease	p.Arg444Leu	VAR_019570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019570	- Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700]	SWISS	501	pfam01496	19924145,NP_006010
10312	223634720	Disease	p.Asp517Asn	VAR_020990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020990	- Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700]	SWISS	617	COG1269	19924145,NP_006010
10312	223634720	Disease	p.Asp517Asn	VAR_020990	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020990	- Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700]	SWISS	586	pfam01496	19924145,NP_006010
10312	223634720	Disease	p.Pro775Arg	VAR_020991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020991	- Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700]	SWISS	903	COG1269	19924145,NP_006010
10312	223634720	Disease	p.Pro775Arg	VAR_020991	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020991	- Osteopetrosis autosomal recessive type 1 (OPTB1) [MIM:259700]	SWISS	901	pfam01496	19924145,NP_006010
6949	302393806	Disease	p.Trp53Arg	VAR_005630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005630	- Treacher Collins syndrome (TCS) [MIM:154500]	SWISS	No Domain	N/A	207113160,NP_001128715
55775	37999797	Disease	p.His493Arg	VAR_017144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017144	- Spinocerebellar ataxia autosomal recessive with axonal neuropathy (SCAN1) [MIM:607250]	SWISS	472	pfam06087	20127586,NP_060789|57242805,NP_001008744
7003	3041733	Disease	p.Tyr421His	VAR_031530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031530	rs11567847 Sveinsson chorioretinal atrophy (SCRA) [MIM:108985]	SWISS	No Domain	N/A	296434319,NP_068780
7007	229462759	Disease	p.Cys1057Ser	VAR_018970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018970	- Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]	SWISS	No Domain	N/A	NULL
7007	229462759	Disease	p.Cys1619Ser	VAR_018971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018971	rs28939691 Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]	SWISS	198	pfam00094	NULL
7007	229462759	Disease	p.Cys1619Ser	VAR_018971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018971	rs28939691 Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]	SWISS	256	smart00216	NULL
7007	229462759	Disease	p.Leu1820Phe	VAR_018973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018973	- Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]	SWISS	30	pfam00100	NULL
7007	229462759	Disease	p.Leu1820Phe	VAR_018973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018973	- Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]	SWISS	19	smart00241	NULL
7007	229462759	Disease	p.Gly1824Asp	VAR_018974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018974	- Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]	SWISS	46	pfam00100	NULL
7007	229462759	Disease	p.Gly1824Asp	VAR_018974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018974	- Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]	SWISS	23	smart00241	NULL
7007	229462759	Disease	p.Tyr1870Cys	VAR_018976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018976	rs28939690 Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]	SWISS	209	pfam00100	NULL
7007	229462759	Disease	p.Tyr1870Cys	VAR_018976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018976	rs28939690 Deafness autosomal dominant type 12 (DFNA12) [MIM:601543]	SWISS	103	smart00241	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	17	cd05076	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	22	cd05575	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	21	cd05570	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	26_G	cd06631	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	22	cd05042	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	22	cd05592	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	22	cd05594	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	22	cd05593	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	30	cd05058	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	67	cd00192	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	22	cd05077	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd05078	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	41	cd05037	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	20	cd05041	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd06630	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	24	cd05040	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	22	cd05086	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	22	cd05087	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	26	cd05044	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	22	cd05084	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	20	cd05085	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	22	cd05603	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	20	cd05591	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	22	cd05590	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd05060	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	22	cd05047	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	22	cd05116	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	22	cd05571	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	22	cd05619	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	44_G	cd06656	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	39	cd07865	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	42_G	cd06634	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	42	cd06607	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	46	cd06648	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	29	cd07829	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	42	cd05122	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	28	cd07862	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd08218	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd07860	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd07839	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	57	cd07830	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	28	cd07847	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	105	cd07842	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	29	cd07841	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd07863	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	26	cd07831	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	29_G	cd08216	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	47_G	cd06639	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	48	cd06659	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	34	cd07856	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	36	cd06646	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	36	cd06645	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	43	cd06636	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	52	cd06614	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	69	cd05106	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	49	cd06658	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	65	cd05104	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	33	cd05148	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	30	cd05034	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd08228	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	29	cd08229	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	30	cd08224	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	34	cd07864	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	32	cd06643	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	29	cd05089	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	32	cd06611	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	67	cd05055	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	45	cd05101	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	26	cd05589	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	48	pfam07714	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	28	pfam00069	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	93	smart00219	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	92	smart00221	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	33	cd05080	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	26	cd05075	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd05074	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	37	cd05035	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	28	cd06917	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	50	cd05098	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	44	cd05100	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd06632	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd08221	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd06610	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	50	cd05573	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	37	cd06612	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	31_G	cd07843	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	50	cd07840	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	36	cd06623	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	28	cd07846	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	29	cd06653	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd07837	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	28	cd06605	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	28	cd06622	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	47	cd06619	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	26_G	cd05601	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	192	COG0515	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	30	cd06621	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	73	cd05580	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	28	cd06615	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	71	cd05581	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	28_G	cd07833	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	39	cd06609	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	30	cd06613	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	28	cd06617	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	28	cd05623	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd05600	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	32	cd07849	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	28	cd05612	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	30	cd05073	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	30_G	cd05072	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	34	cd05091	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	30_G	cd05070	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	30	cd05067	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	30	cd05069	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	30_G	cd05068	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	32	cd05090	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	31	cd06616	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	35	cd05093	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	35	cd05092	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	35	cd05574	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	37	cd05102	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	37	cd05054	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	28	cd05059	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	28_G	cd05112	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	28	cd05114	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	28	cd05113	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	29	cd06651	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	36	cd05062	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	34	cd05097	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	67	cd05032	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	39	cd05095	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	29	cd06625	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	36	cd05050	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	30	cd05071	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	56	cd05033	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	35	cd05038	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	31	cd05066	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	31	cd05079	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	29	cd05081	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	31	cd05065	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	32	cd05064	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	49	cd05043	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	33	cd05063	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	33	cd05052	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	36	cd05061	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	48	smart00220	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	31	cd05083	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	32_G	cd05039	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	33	cd05048	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	31	cd05082	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	32_G	cd06608	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	36	cd05111	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	35	cd05049	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	33	cd06637	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	46	cd05096	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	92	cd05046	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	58	cd05056	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	35	cd06624	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	44	cd05053	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	36	cd07866	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	28	cd06626	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	24	cd05582	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	28	cd05584	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	45	cd06638	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	67	cd05107	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	67	cd05105	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	34	cd07845	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	28	cd06629	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd07835	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27_G	cd07838	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	26	cd08222	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	26	cd05118	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	19	cd05607	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	58	cd00180	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	69	cd05572	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	19	cd05608	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	19	cd05585	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd05579	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	22	cd05115	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	23	cd05123	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	19	cd05577	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd07857	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	30	cd06641	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	30	cd06640	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	30	cd06642	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd06628	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	62	cd05051	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	32	cd07844	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	37	cd05103	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd08220	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	42	cd06618	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	36	cd05036	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	36	cd05110	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	42	cd05099	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	32	cd07871	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	56	cd05057	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	36	cd05109	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	36	cd05108	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	34	cd05088	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	39	cd06644	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	47	cd07851	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	44	cd06647	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd07861	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	32	cd06620	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	40	cd06606	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd05578	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	26	cd08529	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	35	cd08528	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	28	cd06627	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	26	cd05605	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	26	cd05631	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	25	cd05616	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	35	cd05094	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd07836	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	30	cd05045	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd08530	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	29	cd07832	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd07853	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	30	cd08215	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd08223	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	25	cd08225	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd08217	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd08219	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	25	cd05587	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	27	cd05615	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	25	cd05583	NULL
7010	218511853	Disease	p.Arg849Trp	VAR_006352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006352	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	43	cd07834	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	90	cd05076	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	70	cd05575	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	72	cd05570	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	78	cd06631	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	73	cd05042	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	70	cd05592	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	69	cd05594	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	69	cd05593	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	78	cd05058	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	136	cd00192	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	78	cd05077	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	73	cd05078	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	91	cd05037	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	68	cd05041	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	77	cd06630	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	74	cd05040	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	69	cd05086	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	69	cd05087	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	73	cd05044	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	67	cd05084	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	67	cd05085	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	70	cd05603	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	70	cd05591	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	70	cd05590	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	74_G	cd05060	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	70	cd05047	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	70	cd05116	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	69	cd05571	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	70	cd05619	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	90	cd06656	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	86	cd07865	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	89	cd06634	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	89	cd06607	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	90	cd06648	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	101	cd07829	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	98	cd05122	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	83	cd07862	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	73	cd08218	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	73	cd07860	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	73	cd07839	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	114	cd07830	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	74	cd07847	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	170	cd07842	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	89	cd07841	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	84	cd07863	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	74	cd07831	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	75	cd08216	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	105	cd06639	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	92	cd06659	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	84	cd07856	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	80	cd06646	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	80	cd06645	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	93	cd06636	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	104	cd06614	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	117	cd05106	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	93	cd06658	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	113	cd05104	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	77	cd05148	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	75	cd05034	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	76	cd08228	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	76	cd08229	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	77	cd08224	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	91	cd07864	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	76	cd06643	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	77	cd05089	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	78	cd06611	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	115	cd05055	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	95	cd05101	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	76	cd05589	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	120	pfam07714	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	128	pfam00069	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	236	smart00219	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	364	smart00221	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	82	cd05080	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	78	cd05075	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	78	cd05074	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	86	cd05035	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	82	cd06917	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	98	cd05098	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	92	cd05100	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	93	cd06632	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	73	cd08221	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	75	cd06610	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	129	cd05573	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	85	cd06612	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	88	cd07843	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	117	cd07840	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	98	cd06623	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	75	cd07846	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	78	cd06653	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	75	cd07837	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	78	cd06605	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	73	cd06622	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	94	cd06619	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	75	cd05601	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	377	COG0515	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	78	cd06621	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	123	cd05580	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	73	cd06615	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	126	cd05581	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	96	cd07833	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	87	cd06609	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	76	cd06613	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	74	cd06617	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	75	cd05623	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	76	cd05600	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	81	cd07849	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	75	cd05612	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	75	cd05073	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	75	cd05072	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	82	cd05091	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	74	cd05070	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	74	cd05067	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	74	cd05069	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	75	cd05068	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	81	cd05090	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	84	cd06616	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	81	cd05093	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	81	cd05092	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	95	cd05574	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	86	cd05102	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	86	cd05054	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	73	cd05059	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	73	cd05112	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	73	cd05114	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	73	cd05113	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	78	cd06651	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	83	cd05062	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	93	cd05097	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	116	cd05032	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	96	cd05095	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	80	cd06625	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	82	cd05050	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	74	cd05071	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	103	cd05033	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	92	cd05038	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	79	cd05066	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	82	cd05079	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	81	cd05081	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	79	cd05065	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	80	cd05064	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	106	cd05043	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	81	cd05063	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	76	cd05052	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	83	cd05061	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	291	smart00220	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	72_G	cd05083	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	78	cd05039	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	83	cd05048	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	74	cd05082	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	102	cd06608	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	82	cd05111	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	84	cd05049	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	83	cd06637	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	93	cd05096	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	142	cd05046	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	109_G	cd05056	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	84	cd06624	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	92	cd05053	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	75_G	cd07866	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	76	cd06626	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	72	cd05582	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	78	cd05584	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	94	cd06638	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	115	cd05107	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	115	cd05105	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	82	cd07845	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	82	cd06629	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	80	cd07835	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	82	cd07838	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	77	cd08222	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	82	cd05118	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	67	cd05607	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	241	cd00180	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	116	cd05572	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	67	cd05608	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	67	cd05585	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	69	cd05579	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	68	cd05115	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	108	cd05123	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	70	cd05577	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	69_G	cd07857	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	76	cd06641	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	76	cd06640	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	76	cd06642	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	82	cd06628	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	116	cd05051	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	77	cd07844	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	86	cd05103	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	75	cd08220	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	88	cd06618	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	83	cd05036	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	82	cd05110	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	92	cd05099	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	77	cd07871	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	132	cd05057	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	82	cd05109	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	82	cd05108	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	82	cd05088	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	83	cd06644	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	89_G	cd07851	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	90	cd06647	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	74	cd07861	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	79	cd06620	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	149	cd06606	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	74	cd05578	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	78	cd08529	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	92	cd08528	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	79	cd06627	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	74	cd05605	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	74	cd05631	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	75	cd05616	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	81	cd05094	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	72	cd07836	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	77	cd05045	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	76_G	cd08530	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	86	cd07832	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	63_G	cd07853	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	100	cd08215	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	74	cd08223	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	73	cd08225	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	75	cd08217	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	72	cd08219	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	80	cd05587	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	75	cd05615	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	79	cd05583	NULL
7010	218511853	Disease	p.Tyr897Ser	VAR_008716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008716	- Dominantly inherited venous malformations (VMCM) [MIM:600195]	SWISS	103	cd07834	NULL
7015	6226780	Disease	p.Lys902Asn	VAR_036869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036869	- Dyskeratosis congenita autosomal dominant (ADDKC) [MIM:127550]	SWISS	543	cd01648	109633031,NP_937983
7015	6226780	Disease	p.Lys902Asn	VAR_036869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_036869	- Dyskeratosis congenita autosomal dominant (ADDKC) [MIM:127550]	SWISS	526	cd01650	109633031,NP_937983
7015	6226780	Disease	p.Arg979Trp	VAR_062542	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062542	- Dyskeratosis congenita autosomal dominant (ADDKC) [MIM:127550]	SWISS	No Domain	N/A	109633031,NP_937983
7015	6226780	Disease	p.Phe1127Leu	VAR_062544	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062544	- Dyskeratosis congenita autosomal dominant (ADDKC) [MIM:127550]	SWISS	No Domain	N/A	109633031,NP_937983
7018	136191	Disease	p.Asp77Asn	VAR_038810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038810	- Atransferrinemia (ATRAF) [MIM:209300]	SWISS	No Domain	N/A	4557871,NP_001054
7018	136191	Disease	p.Ala477Pro	VAR_012997	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012997	- Atransferrinemia (ATRAF) [MIM:209300]	SWISS	No Domain	N/A	4557871,NP_001054
7020	135302	Disease	p.Leu249Pro	VAR_045838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045838	- Branchiooculofacial syndrome (BOFS) [MIM:113620]	SWISS	41	pfam03299	4507441,NP_003211
7020	135302	Disease	p.Arg254Gly	VAR_045839	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045839	- Branchiooculofacial syndrome (BOFS) [MIM:113620]	SWISS	46	pfam03299	4507441,NP_003211
7020	135302	Disease	p.Arg255Gly	VAR_045840	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045840	- Branchiooculofacial syndrome (BOFS) [MIM:113620]	SWISS	47	pfam03299	4507441,NP_003211
7020	135302	Disease	p.Gly262Glu	VAR_045841	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045841	- Branchiooculofacial syndrome (BOFS) [MIM:113620]	SWISS	54	pfam03299	4507441,NP_003211
7021	152031557	Disease	p.Pro73Arg	VAR_016977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016977	- Char syndrome (CHAR) [MIM:169100]	SWISS	No Domain	N/A	118582289,NP_003212
7021	152031557	Disease	p.Arg236Cys	VAR_016978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016978	- Char syndrome (CHAR) [MIM:169100]	SWISS	9	pfam03299	118582289,NP_003212
7021	152031557	Disease	p.Arg236Ser	VAR_016979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016979	- Char syndrome (CHAR) [MIM:169100]	SWISS	9	pfam03299	118582289,NP_003212
7021	152031557	Disease	p.Ala275Asp	VAR_011318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011318	- Char syndrome (CHAR) [MIM:169100]	SWISS	48	pfam03299	118582289,NP_003212
7021	152031557	Disease	p.Arg285Gln	VAR_016980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016980	- Char syndrome (CHAR) [MIM:169100]	SWISS	58	pfam03299	118582289,NP_003212
7021	152031557	Disease	p.Arg300Cys	VAR_011319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011319	- Char syndrome (CHAR) [MIM:169100]	SWISS	73	pfam03299	118582289,NP_003212
7036	20140912	Disease	p.Val22Ile	VAR_042515	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042515	- Hereditary hemochromatosis type 3 (HFE3) [MIM:604250]	SWISS	No Domain	N/A	33589848,NP_003218
7036	20140912	Disease	p.Met172Lys	VAR_012738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012738	- Hereditary hemochromatosis type 3 (HFE3) [MIM:604250]	SWISS	No Domain	N/A	33589848,NP_003218
7036	20140912	Disease	p.Gln690Pro	VAR_042517	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042517	- Hereditary hemochromatosis type 3 (HFE3) [MIM:604250]	SWISS	23	pfam04253	33589848,NP_003218
7038	126302607	Disease	p.Cys183Tyr	VAR_063034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063034	- Congenital hypothyroidism due to dyshormonogenesis type 3 (CHDH3) [MIM:274700]	SWISS	No Domain	N/A	55770862,NP_003226
7038	126302607	Disease	p.Cys1264Arg	VAR_010216	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010216	rs2076738 Congenital hypothyroidism due to dyshormonogenesis type 3 (CHDH3) [MIM:274700]	SWISS	No Domain	N/A	55770862,NP_003226
7038	126302607	Disease	p.Cys1897Tyr	VAR_063035	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063035	- Congenital hypothyroidism due to dyshormonogenesis type 3 (CHDH3) [MIM:274700]	SWISS	No Domain	N/A	55770862,NP_003226
7038	126302607	Disease	p.Cys1996Ser	VAR_010219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010219	rs2076739 Congenital hypothyroidism due to dyshormonogenesis type 3 (CHDH3) [MIM:274700]	SWISS	No Domain	N/A	55770862,NP_003226
7038	126302607	Disease	p.Ala2234Asp	VAR_063036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063036	- Congenital hypothyroidism due to dyshormonogenesis type 3 (CHDH3) [MIM:274700]	SWISS	65	pfam00135	55770862,NP_003226
7038	126302607	Disease	p.Ala2234Asp	VAR_063036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063036	- Congenital hypothyroidism due to dyshormonogenesis type 3 (CHDH3) [MIM:274700]	SWISS	33	cd00312	55770862,NP_003226
7038	126302607	Disease	p.Ala2234Asp	VAR_063036	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063036	- Congenital hypothyroidism due to dyshormonogenesis type 3 (CHDH3) [MIM:274700]	SWISS	46	COG2272	55770862,NP_003226
7038	126302607	Disease	p.Arg2336Gln	VAR_063037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063037	- Congenital hypothyroidism due to dyshormonogenesis type 3 (CHDH3) [MIM:274700]	SWISS	283	pfam00135	55770862,NP_003226
7038	126302607	Disease	p.Arg2336Gln	VAR_063037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063037	- Congenital hypothyroidism due to dyshormonogenesis type 3 (CHDH3) [MIM:274700]	SWISS	185	cd00312	55770862,NP_003226
7038	126302607	Disease	p.Arg2336Gln	VAR_063037	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063037	- Congenital hypothyroidism due to dyshormonogenesis type 3 (CHDH3) [MIM:274700]	SWISS	169	COG2272	55770862,NP_003226
7038	126302607	Disease	p.Gly2375Arg	VAR_063038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063038	- Congenital hypothyroidism due to dyshormonogenesis type 3 (CHDH3) [MIM:274700]	SWISS	346	pfam00135	55770862,NP_003226
7038	126302607	Disease	p.Gly2375Arg	VAR_063038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063038	- Congenital hypothyroidism due to dyshormonogenesis type 3 (CHDH3) [MIM:274700]	SWISS	230	cd00312	55770862,NP_003226
7038	126302607	Disease	p.Gly2375Arg	VAR_063038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063038	- Congenital hypothyroidism due to dyshormonogenesis type 3 (CHDH3) [MIM:274700]	SWISS	214	COG2272	55770862,NP_003226
7040	135674	Disease	p.Tyr81His	VAR_017607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017607	- Camurati-Engelmann disease (CE) [MIM:131300]	SWISS	135	pfam00688	NULL
7040	135674	Disease	p.Arg218Cys	VAR_017608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017608	- Camurati-Engelmann disease (CE) [MIM:131300]	SWISS	389	pfam00688	NULL
7040	135674	Disease	p.Arg218His	VAR_017609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017609	- Camurati-Engelmann disease (CE) [MIM:131300]	SWISS	389	pfam00688	NULL
7040	135674	Disease	p.His222Asp	VAR_017610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017610	- Camurati-Engelmann disease (CE) [MIM:131300]	SWISS	393	pfam00688	NULL
7040	135674	Disease	p.Cys225Arg	VAR_017611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017611	- Camurati-Engelmann disease (CE) [MIM:131300]	SWISS	399	pfam00688	NULL
7045	2498193	Disease	p.Arg124Cys	VAR_005076	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005076	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	11	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Arg124His	VAR_005077	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005077	- Avellino corneal dystrophy (ACD) [MIM:607541]	SWISS	11	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Arg124Leu	VAR_005078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005078	- Reis-Buecklers corneal dystrophy (CDRB) [MIM:608470]	SWISS	11	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Arg124Ser	VAR_012444	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012444	- Corneal dystrophy Groenouw type 1 (CDGG1) [MIM:121900]	SWISS	11	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Pro501Thr	VAR_005079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005079	- Lattice corneal dystrophy type 3A (CDL3A) [MIM:608471]	SWISS	47	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Val505Asp	VAR_031535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031535	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	68	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Leu509Arg	VAR_031536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031536	- Epithelial basement membrane corneal dystrophy (EBMD) [MIM:121820]	SWISS	72	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Leu518Pro	VAR_012446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012446	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	96	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Leu518Pro	VAR_012446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012446	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	5	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Leu518Arg	VAR_018484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018484	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	96	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Leu518Arg	VAR_018484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018484	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	5	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Leu527Arg	VAR_005080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005080	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	110	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Leu527Arg	VAR_005080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005080	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	19	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Thr538Arg	VAR_018485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018485	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	121	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Thr538Arg	VAR_018485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018485	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	56	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Phe540Ser	VAR_031538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031538	- Lattice corneal dystrophy type 3A (CDL3A) [MIM:608471]	SWISS	3	smart00554	4507467,NP_000349
7045	2498193	Disease	p.Phe540Ser	VAR_031538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031538	- Lattice corneal dystrophy type 3A (CDL3A) [MIM:608471]	SWISS	123	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Phe540Ser	VAR_031538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031538	- Lattice corneal dystrophy type 3A (CDL3A) [MIM:608471]	SWISS	58	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Ala546Asp	VAR_031539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031539	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	9	smart00554	4507467,NP_000349
7045	2498193	Disease	p.Ala546Asp	VAR_031539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031539	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	129	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Ala546Asp	VAR_031539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031539	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	64	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Ala546Thr	VAR_012448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012448	- Lattice corneal dystrophy type 3A (CDL3A) [MIM:608471]	SWISS	9	smart00554	4507467,NP_000349
7045	2498193	Disease	p.Ala546Thr	VAR_012448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012448	- Lattice corneal dystrophy type 3A (CDL3A) [MIM:608471]	SWISS	129	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Ala546Thr	VAR_012448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012448	- Lattice corneal dystrophy type 3A (CDL3A) [MIM:608471]	SWISS	64	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Pro551Gln	VAR_031540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031540	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	18	smart00554	4507467,NP_000349
7045	2498193	Disease	p.Pro551Gln	VAR_031540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031540	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	134	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Pro551Gln	VAR_031540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031540	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	80	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Arg555Gln	VAR_005082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005082	- Corneal dystrophy Thiel-Behnke type (CDTB) [MIM:602082]	SWISS	34	smart00554	4507467,NP_000349
7045	2498193	Disease	p.Arg555Gln	VAR_005082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005082	- Corneal dystrophy Thiel-Behnke type (CDTB) [MIM:602082]	SWISS	138	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Arg555Gln	VAR_005082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005082	- Corneal dystrophy Thiel-Behnke type (CDTB) [MIM:602082]	SWISS	85	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Arg555Trp	VAR_005083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005083	- Corneal dystrophy Groenouw type 1 (CDGG1) [MIM:121900]	SWISS	34	smart00554	4507467,NP_000349
7045	2498193	Disease	p.Arg555Trp	VAR_005083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005083	- Corneal dystrophy Groenouw type 1 (CDGG1) [MIM:121900]	SWISS	138	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Arg555Trp	VAR_005083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005083	- Corneal dystrophy Groenouw type 1 (CDGG1) [MIM:121900]	SWISS	85	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Leu569Arg	VAR_031541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031541	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	52	smart00554	4507467,NP_000349
7045	2498193	Disease	p.Leu569Arg	VAR_031541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031541	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	314	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Leu569Arg	VAR_031541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031541	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	105	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.His572Arg	VAR_031543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031543	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	55	smart00554	4507467,NP_000349
7045	2498193	Disease	p.His572Arg	VAR_031543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031543	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	317	COG2335	4507467,NP_000349
7045	2498193	Disease	p.His572Arg	VAR_031543	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031543	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	108	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Asn622Lys	VAR_018486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018486	- Lattice corneal dystrophy type 3A (CDL3A) [MIM:608471]	SWISS	201	smart00554	4507467,NP_000349
7045	2498193	Disease	p.Asn622Lys	VAR_018486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018486	- Lattice corneal dystrophy type 3A (CDL3A) [MIM:608471]	SWISS	391	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Asn622Lys	VAR_018486	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018486	- Lattice corneal dystrophy type 3A (CDL3A) [MIM:608471]	SWISS	208	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Gly623Asp	VAR_018487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018487	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	209	smart00554	4507467,NP_000349
7045	2498193	Disease	p.Gly623Asp	VAR_018487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018487	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	392	COG2335	4507467,NP_000349
7045	2498193	Disease	p.Gly623Asp	VAR_018487	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018487	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	209	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.His626Pro	VAR_018488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018488	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	212	smart00554	4507467,NP_000349
7045	2498193	Disease	p.His626Pro	VAR_018488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018488	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	395	COG2335	4507467,NP_000349
7045	2498193	Disease	p.His626Pro	VAR_018488	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018488	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	212	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.His626Arg	VAR_012450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012450	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	212	smart00554	4507467,NP_000349
7045	2498193	Disease	p.His626Arg	VAR_012450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012450	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	395	COG2335	4507467,NP_000349
7045	2498193	Disease	p.His626Arg	VAR_012450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012450	- Corneal dystrophy lattice type 1 (CDL1) [MIM:122200]	SWISS	212	pfam02469	4507467,NP_000349
7045	2498193	Disease	p.Arg666Ser	VAR_031546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031546	- Epithelial basement membrane corneal dystrophy (EBMD) [MIM:121820]	SWISS	No Domain	N/A	4507467,NP_000349
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	12	cd06634	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	14	cd05098	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	21	cd06639	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	3	cd06637	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	3	cd05109	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	5	cd07864	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	13	cd06636	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	8	cd06638	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	8	cd05099	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	8	cd05088	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	8	cd05053	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	4_G	cd05092	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	11	cd06614	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	11	cd05101	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	7	cd05057	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	9	cd07865	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	2	cd05091	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	2	cd05090	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	2	cd05048	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	2	cd05036	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	2	cd05063	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	2	cd05056	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	17	cd06659	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	15	cd06648	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	28	smart00467	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	31	pfam08515	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	6	cd06646	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	4_G	cd05049	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	5	cd05046	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	5	cd07866	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	6	cd06645	4759226,NP_004603
7046	547777	Disease	p.Thr200Ile	VAR_022344	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022344	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	6	cd05043	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	46	cd06634	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	56	cd05098	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	32	cd07861	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	31	cd07836	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	44	cd06606	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	111	cd07842	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	33	cd07832	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	32	cd06627	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	36	cd08223	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	36	cd05045	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	31	cd06628	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	33	cd07841	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	31	cd05605	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	32	cd06629	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	53	cd06639	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	36	cd08530	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	34	cd07833	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	37	cd05578	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	33	cd06610	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	41	cd06612	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	38	cd06608	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	37	cd05148	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	32	cd05601	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	46	cd05122	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	34	cd08215	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	54	cd07840	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	36	cd08529	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	37	cd06637	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	42	cd05109	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	38	cd07864	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	33	cd07829	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	32	cd06626	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	25	cd05086	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	31	cd05042	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	47	cd06636	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	49	cd06638	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	50	cd05099	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	40	cd05088	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	50	cd05053	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	121	smart00221	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	33	cd07835	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	102	smart00219	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	54	pfam07714	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	40	pfam00069	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	33	cd05074	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	43	cd05035	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	36	cd05067	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	36	cd05069	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	36	cd05068	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	36	cd05073	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	36	cd05072	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	36	cd05070	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	36	cd07844	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	41	cd05093	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	38	cd07845	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	36	cd05071	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	42	cd05061	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	42	cd05062	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	72	cd05051	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	62	cd05033	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	41	cd05038	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	35	cd05052	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	34	cd05112	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	41	cd05092	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	32	cd06617	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	35	cd05083	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	77	cd05581	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	36	cd08219	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	45	cd06609	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	39	cd05080	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	31	cd07863	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	32	cd07847	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	41	cd05050	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	40	cd06623	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	32	cd06605	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	56	cd06614	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	53	cd05101	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	28	cd05115	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	62	cd05057	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	44	cd07865	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	41	cd05091	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	40	cd05090	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	40	cd05048	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	40	cd05036	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	38	cd05063	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	64	cd05056	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	33	cd08228	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	38	cd05066	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	35	cd06641	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	35	cd06642	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	42	cd05111	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	35	cd06616	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	35	cd05082	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	35	cd05039	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	52	cd05097	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	55	cd05095	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	35	cd06640	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	39	cd05064	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	34	cd05059	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	39	cd05081	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	39	cd05079	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	34	cd05114	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	34	cd05113	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	34	cd08224	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	36	cd08229	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	33	cd05123	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	64	cd00180	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	24	cd05579	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	36	cd08221	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	33	cd06625	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	33	cd08220	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	24	cd05577	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	25	cd05633	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	24	cd05608	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	25	cd05606	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	24	cd05607	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	52	cd06659	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	77	smart00220	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	30	cd05118	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	33	cd05060	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	28	cd05047	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	32	cd07846	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	31	cd08217	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	36	cd05058	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	24	cd05084	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	32	cd05044	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	26	cd05041	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	26	cd05085	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	32	cd07837	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	30	cd05040	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	28	cd05087	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	31	cd06632	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	30	cd06631	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	32	cd06917	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	73	cd00192	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	31	cd07839	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	50	cd06648	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	36	cd05034	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	38	cd05065	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	73	cd05032	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	39	cd06624	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	34	cd06613	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	40	cd06646	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	41	cd05049	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	101	cd05046	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	40	cd07866	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	40	cd06645	4759226,NP_004603
7046	547777	Disease	p.Lys232Glu	VAR_029481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029481	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	55	cd05043	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	55	cd06634	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	69	cd05098	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	41	cd07861	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	40	cd07836	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	105	cd06606	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	140	cd07842	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	47	cd07832	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	46	cd06627	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	45	cd08223	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	49	cd05045	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	42	cd06628	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	59	cd07841	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	46	cd05605	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	46	cd06629	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	69	cd06639	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	45	cd08530	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	66	cd07833	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	46	cd05578	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	47	cd06610	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	55	cd06612	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	67	cd06608	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	47	cd05148	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	46	cd05601	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	61	cd05122	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	63	cd08215	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	66	cd07840	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	49	cd08529	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	44_G	cd06637	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	49	cd05109	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	47	cd07864	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	51	cd07829	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	44	cd06626	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	41	cd05086	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	44	cd05042	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	54_G	cd06636	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	58	cd06638	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	63	cd05099	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	53	cd05088	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	60	cd05053	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	240	smart00221	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	47	cd07835	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	174	smart00219	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	79	pfam07714	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	50	pfam00069	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	47	cd05074	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	57	cd05035	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	47	cd05067	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	47	cd05069	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	47	cd05068	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	47	cd05073	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	47	cd05072	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	47	cd05070	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	45	cd07844	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	53	cd05093	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	52	cd07845	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	47	cd05071	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	55	cd05061	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	55	cd05062	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	86	cd05051	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	74	cd05033	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	56	cd05038	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	44	cd05052	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	45	cd05112	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	50	cd05092	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	45	cd06617	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	44	cd05083	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	86	cd05581	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	45	cd08219	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	57	cd06609	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	52	cd05080	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	48	cd07863	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	41	cd07847	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	48	cd05050	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	55	cd06623	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	46	cd06605	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	74	cd06614	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	66	cd05101	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	37	cd05115	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	104	cd05057	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	54	cd07865	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	50	cd05091	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	49	cd05090	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	49	cd05048	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	55	cd05036	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	53	cd05063	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	82	cd05056	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	45	cd08228	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	51	cd05066	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	44	cd06641	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	44	cd06642	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	51	cd05111	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	52	cd06616	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	44	cd05082	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	49	cd05039	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	64	cd05097	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	67	cd05095	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	44	cd06640	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	52	cd05064	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	45	cd05059	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	50	cd05081	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	50	cd05079	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	45	cd05114	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	45	cd05113	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	49	cd08224	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	45	cd08229	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	68	cd05123	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	134	cd00180	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	36	cd05579	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	45	cd08221	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	42	cd06625	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	47	cd08220	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	39	cd05577	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	34	cd05633	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	35	cd05608	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	34	cd05606	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	33	cd05607	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	61	cd06659	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	155	smart00220	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	39	cd05118	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	47	cd05060	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	41	cd05047	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	41	cd07846	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	37_G	cd08217	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	49	cd05058	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	39	cd05084	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	45	cd05044	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	40	cd05041	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	39	cd05085	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	46	cd07837	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	45	cd05040	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	41	cd05087	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	51	cd06632	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	48	cd06631	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	45	cd06917	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	82	cd00192	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	45	cd07839	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	59	cd06648	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	47	cd05034	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	51	cd05065	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	86	cd05032	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	49	cd06624	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	46	cd06613	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	49	cd06646	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	53	cd05049	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	113	cd05046	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	49	cd07866	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	50	cd06645	4759226,NP_004603
7046	547777	Disease	p.Ser241Leu	VAR_029482	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029482	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	67	cd05043	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	133	cd06634	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	153	cd05098	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	112	cd07861	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	113	cd07836	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	198	cd06606	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	222	cd07842	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	133	cd07832	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	124_G	cd06627	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	120	cd08223	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	146	cd05045	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	126	cd06628	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	135	cd07841	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	120	cd05605	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	128	cd06629	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	153	cd06639	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	124	cd08530	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	141	cd07833	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	120	cd05578	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	130	cd06610	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	133	cd06612	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	161	cd06608	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	123	cd05148	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	113	cd05601	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	151	cd05122	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	156	cd08215	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	167	cd07840	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	123_G	cd08529	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	129	cd06637	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	125_G	cd05109	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	135_G	cd07864	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	159	cd07829	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	120	cd06626	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	117_G	cd05086	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	120_G	cd05042	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	139	cd06636	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	142	cd06638	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	136	cd05099	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	129	cd05088	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	152	cd05053	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	479	smart00221	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	136	cd07835	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	402	smart00219	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	271_G	pfam07714	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	198	pfam00069	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	131	cd05074	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	136	cd05035	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	120	cd05067	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	121	cd05069	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	123	cd05068	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	120_G	cd05073	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	120_G	cd05072	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	121	cd05070	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	122	cd07844	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	127	cd05093	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	139	cd07845	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	121	cd05071	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	138	cd05061	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	137	cd05062	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	166	cd05051	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	157	cd05033	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	141	cd05038	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	122	cd05052	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	118	cd05112	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	124	cd05092	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	122	cd06617	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	118	cd05083	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	233_G	cd05581	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	116	cd08219	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	140_G	cd06609	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	125	cd05080	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	129	cd07863	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	118	cd07847	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	127	cd05050	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	153	cd06623	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	135	cd06605	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	167_G	cd06614	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	150	cd05101	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	113	cd05115	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	179	cd05057	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	142	cd07865	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	129	cd05091	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	131	cd05090	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	134	cd05048	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	134	cd05036	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	127	cd05063	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	154	cd05056	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	124	cd08228	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	125	cd05066	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	119	cd06641	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	119	cd06642	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	127	cd05111	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	132	cd06616	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	120	cd05082	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	125	cd05039	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	136	cd05097	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	146	cd05095	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	119	cd06640	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	124	cd05064	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	120	cd05059	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	121	cd05081	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	125_G	cd05079	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	116	cd05114	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	119	cd05113	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	125	cd08224	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	124	cd08229	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	633	cd05123	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	348	cd00180	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	113_G	cd05579	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	120	cd08221	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	124	cd06625	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	128	cd08220	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	118	cd05577	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	115	cd05633	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	115	cd05608	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	116	cd05606	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	114	cd05607	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	134_G	cd06659	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	386	smart00220	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	126_G	cd05118	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	121	cd05060	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	117	cd05047	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	119	cd07846	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	123	cd08217	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	123	cd05058	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	112	cd05084	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	129	cd05044	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	114	cd05041	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	112	cd05085	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	135_G	cd07837	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	122	cd05040	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	122_G	cd05087	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	137	cd06632	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	122	cd06631	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	127_G	cd06917	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	324_G	cd00192	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	117	cd07839	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	133_G	cd06648	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	122	cd05034	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	125	cd05065	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	182	cd05032	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	131	cd06624	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	121	cd06613	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	124	cd06646	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	129	cd05049	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	203_G	cd05046	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	149	cd07866	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	124	cd06645	4759226,NP_004603
7046	547777	Disease	p.Met318Arg	VAR_022345	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022345	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	159_G	cd05043	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	196	cd06634	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	224	cd05098	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	185	cd07861	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	186	cd07836	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	328	cd06606	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	298	cd07842	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	205	cd07832	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	227	cd06627	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	184	cd08223	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	211	cd05045	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	198	cd06628	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	220	cd07841	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	183	cd05605	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	198	cd06629	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	222	cd06639	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	190	cd08530	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	242	cd07833	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	193	cd05578	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	206	cd06610	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	202	cd06612	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	235	cd06608	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	188	cd05148	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	194	cd05601	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	227	cd05122	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	251	cd08215	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	390	cd07840	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	188	cd08529	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	198	cd06637	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	193	cd05109	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	203	cd07864	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	237	cd07829	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	229	cd06626	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	191	cd05086	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	195	cd05042	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	208	cd06636	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	211	cd06638	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	218	cd05099	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	205	cd05088	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	234	cd05053	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	837	smart00221	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	210	cd07835	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	571	smart00219	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	379	pfam07714	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	334	pfam00069	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	197	cd05074	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	207	cd05035	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	185	cd05067	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	185	cd05069	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	191	cd05068	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	186	cd05073	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	186	cd05072	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	185	cd05070	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	187	cd07844	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	204	cd05093	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	206	cd07845	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	185	cd05071	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	204	cd05061	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	203	cd05062	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	254	cd05051	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	227	cd05033	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	220	cd05038	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	187	cd05052	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	183	cd05112	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	206	cd05092	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	190	cd06617	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	179	cd05083	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	433	cd05581	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	182	cd08219	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	233	cd06609	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	192	cd05080	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	192	cd07863	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	190	cd07847	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	217	cd05050	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	241	cd06623	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	206	cd06605	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	236	cd06614	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	221	cd05101	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	180	cd05115	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	247	cd05057	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	213	cd07865	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	208	cd05091	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	208	cd05090	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	211	cd05048	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	206	cd05036	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	193	cd05063	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	221	cd05056	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	188	cd08228	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	191	cd05066	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	183	cd06641	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	183	cd06642	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	193	cd05111	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	244	cd06616	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	181	cd05082	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	188	cd05039	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	215	cd05097	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	225	cd05095	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	183	cd06640	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	191	cd05064	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	185	cd05059	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	193	cd05081	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	194	cd05079	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	183	cd05114	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	184	cd05113	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	189	cd08224	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	188	cd08229	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	794	cd05123	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	667	cd00180	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	726	cd05579	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	186	cd08221	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	192	cd06625	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	192	cd08220	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	183	cd05577	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	178	cd05633	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	179	cd05608	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	179	cd05606	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	177	cd05607	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	199	cd06659	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	776	smart00220	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	195	cd05118	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	187	cd05060	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	193	cd05047	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	185	cd07846	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	255	cd08217	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	191	cd05058	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	178	cd05084	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	201	cd05044	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	180	cd05041	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	177	cd05085	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	202	cd07837	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	195	cd05040	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	196	cd05087	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	208	cd06632	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	212	cd06631	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	196	cd06917	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	420	cd00192	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	182	cd07839	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	198	cd06648	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	196	cd05034	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	193	cd05065	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	248	cd05032	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	198	cd06624	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	191	cd06613	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	191	cd06646	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	216	cd05049	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	269	cd05046	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	232	cd07866	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	191	cd06645	4759226,NP_004603
7046	547777	Disease	p.Asp400Gly	VAR_022346	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022346	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	229	cd05043	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	299	cd06634	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	291	cd05098	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	274	cd07861	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	276	cd07836	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	278	cd05045	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	270	cd06628	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	328_G	cd07841	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	290	cd05605	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	290	cd06639	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	288	cd06610	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	288	cd05148	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	317	cd05601	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	260	cd05109	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	302	cd07864	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	358	cd07829	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	262	cd05086	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	266	cd05042	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	272	cd06638	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	303	cd05099	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	293	cd05088	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	302	cd05053	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	297	cd07835	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	695	smart00219	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	477	pfam07714	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	467	pfam00069	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	264	cd05074	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	275	cd05035	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	278	cd05067	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	252	cd05069	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	258	cd05068	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	253	cd05073	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	253	cd05072	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	252	cd05070	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	278	cd07844	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	271	cd05093	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	312	cd07845	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	252	cd05071	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	271	cd05061	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	270	cd05062	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	345	cd05051	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	294	cd05033	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	321	cd05038	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	254	cd05052	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	250	cd05112	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	246	cd05083	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	273	cd05080	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	284	cd07863	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	297	cd07847	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	284	cd05050	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	334	cd06623	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	288	cd05101	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	247	cd05115	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	314	cd05057	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	275	cd05091	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	275	cd05090	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	278	cd05048	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	273	cd05036	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	260	cd05063	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	289	cd05056	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	272	cd06641	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	272	cd06642	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	260	cd05111	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	248	cd05082	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	256	cd05039	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	290	cd05097	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	301	cd05095	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	258	cd05064	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	249_G	cd05059	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	275	cd05081	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	275	cd05079	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	250	cd05114	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	251	cd05113	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	866	cd00180	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	268	cd05633	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	277	cd05608	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	277	cd05606	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	281	cd06659	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	1227	smart00220	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	254	cd05060	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	260	cd05047	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	298_G	cd07846	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	258	cd05058	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	245	cd05084	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	268	cd05044	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	247	cd05041	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	244	cd05085	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	295	cd07837	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	264	cd05040	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	267	cd05087	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	269	cd06917	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	518	cd00192	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	279	cd07839	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	272	cd06648	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	265	cd05034	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	319	cd05032	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	266	cd06624	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	265	cd06613	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	266	cd06646	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	293	cd05049	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	338	cd05046	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	346	cd07866	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 1A (LDS1A) [MIM:609192]	SWISS	261	cd06645	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	299	cd06634	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	291	cd05098	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	274	cd07861	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	276	cd07836	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	278	cd05045	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	270	cd06628	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	328_G	cd07841	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	290	cd05605	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	290	cd06639	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	288	cd06610	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	288	cd05148	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	317	cd05601	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	260	cd05109	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	302	cd07864	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	358	cd07829	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	262	cd05086	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	266	cd05042	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	272	cd06638	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	303	cd05099	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	293	cd05088	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	302	cd05053	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	297	cd07835	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	695	smart00219	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	477	pfam07714	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	467	pfam00069	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	264	cd05074	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	275	cd05035	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	278	cd05067	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	252	cd05069	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	258	cd05068	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	253	cd05073	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	253	cd05072	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	252	cd05070	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	278	cd07844	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	271	cd05093	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	312	cd07845	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	252	cd05071	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	271	cd05061	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	270	cd05062	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	345	cd05051	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	294	cd05033	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	321	cd05038	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	254	cd05052	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	250	cd05112	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	246	cd05083	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	273	cd05080	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	284	cd07863	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	297	cd07847	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	284	cd05050	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	334	cd06623	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	288	cd05101	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	247	cd05115	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	314	cd05057	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	275	cd05091	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	275	cd05090	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	278	cd05048	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	273	cd05036	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	260	cd05063	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	289	cd05056	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	272	cd06641	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	272	cd06642	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	260	cd05111	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	248	cd05082	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	256	cd05039	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	290	cd05097	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	301	cd05095	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	258	cd05064	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	249_G	cd05059	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	275	cd05081	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	275	cd05079	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	250	cd05114	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	251	cd05113	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	866	cd00180	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	268	cd05633	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	277	cd05608	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	277	cd05606	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	281	cd06659	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	1227	smart00220	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	254	cd05060	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	260	cd05047	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	298_G	cd07846	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	258	cd05058	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	245	cd05084	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	268	cd05044	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	247	cd05041	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	244	cd05085	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	295	cd07837	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	264	cd05040	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	267	cd05087	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	269	cd06917	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	518	cd00192	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	279	cd07839	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	272	cd06648	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	265	cd05034	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	319	cd05032	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	266	cd06624	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	265	cd06613	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	266	cd06646	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	293	cd05049	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	338	cd05046	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	346	cd07866	4759226,NP_004603
7046	547777	Disease	p.Arg487Pro	VAR_022347	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022347	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	261	cd06645	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	299	cd06634	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	291	cd05098	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	274	cd07861	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	276	cd07836	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	278	cd05045	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	270	cd06628	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	328_G	cd07841	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	290	cd05605	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	290	cd06639	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	288	cd06610	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	288	cd05148	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	317	cd05601	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	260	cd05109	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	302	cd07864	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	358	cd07829	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	262	cd05086	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	266	cd05042	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	272	cd06638	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	303	cd05099	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	293	cd05088	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	302	cd05053	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	297	cd07835	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	695	smart00219	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	477	pfam07714	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	467	pfam00069	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	264	cd05074	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	275	cd05035	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	278	cd05067	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	252	cd05069	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	258	cd05068	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	253	cd05073	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	253	cd05072	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	252	cd05070	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	278	cd07844	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	271	cd05093	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	312	cd07845	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	252	cd05071	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	271	cd05061	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	270	cd05062	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	345	cd05051	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	294	cd05033	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	321	cd05038	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	254	cd05052	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	250	cd05112	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	246	cd05083	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	273	cd05080	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	284	cd07863	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	297	cd07847	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	284	cd05050	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	334	cd06623	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	288	cd05101	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	247	cd05115	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	314	cd05057	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	275	cd05091	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	275	cd05090	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	278	cd05048	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	273	cd05036	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	260	cd05063	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	289	cd05056	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	272	cd06641	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	272	cd06642	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	260	cd05111	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	248	cd05082	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	256	cd05039	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	290	cd05097	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	301	cd05095	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	258	cd05064	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	249_G	cd05059	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	275	cd05081	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	275	cd05079	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	250	cd05114	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	251	cd05113	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	866	cd00180	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	268	cd05633	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	277	cd05608	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	277	cd05606	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	281	cd06659	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	1227	smart00220	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	254	cd05060	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	260	cd05047	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	298_G	cd07846	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	258	cd05058	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	245	cd05084	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	268	cd05044	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	247	cd05041	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	244	cd05085	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	295	cd07837	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	264	cd05040	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	267	cd05087	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	269	cd06917	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	518	cd00192	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	279	cd07839	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	272	cd06648	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	265	cd05034	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	319	cd05032	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	266	cd06624	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	265	cd06613	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	266	cd06646	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	293	cd05049	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	338	cd05046	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	346	cd07866	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Aortic aneurysm familial thoracic type 5 (AAT5) [MIM:608967]	SWISS	261	cd06645	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	299	cd06634	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	291	cd05098	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	274	cd07861	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	276	cd07836	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	278	cd05045	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	270	cd06628	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	328_G	cd07841	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	290	cd05605	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	290	cd06639	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	288	cd06610	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	288	cd05148	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	317	cd05601	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	260	cd05109	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	302	cd07864	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	358	cd07829	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	262	cd05086	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	266	cd05042	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	272	cd06638	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	303	cd05099	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	293	cd05088	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	302	cd05053	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	297	cd07835	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	695	smart00219	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	477	pfam07714	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	467	pfam00069	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	264	cd05074	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	275	cd05035	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	278	cd05067	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	252	cd05069	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	258	cd05068	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	253	cd05073	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	253	cd05072	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	252	cd05070	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	278	cd07844	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	271	cd05093	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	312	cd07845	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	252	cd05071	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	271	cd05061	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	270	cd05062	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	345	cd05051	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	294	cd05033	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	321	cd05038	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	254	cd05052	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	250	cd05112	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	246	cd05083	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	273	cd05080	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	284	cd07863	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	297	cd07847	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	284	cd05050	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	334	cd06623	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	288	cd05101	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	247	cd05115	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	314	cd05057	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	275	cd05091	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	275	cd05090	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	278	cd05048	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	273	cd05036	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	260	cd05063	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	289	cd05056	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	272	cd06641	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	272	cd06642	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	260	cd05111	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	248	cd05082	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	256	cd05039	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	290	cd05097	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	301	cd05095	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	258	cd05064	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	249_G	cd05059	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	275	cd05081	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	275	cd05079	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	250	cd05114	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	251	cd05113	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	866	cd00180	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	268	cd05633	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	277	cd05608	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	277	cd05606	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	281	cd06659	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	1227	smart00220	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	254	cd05060	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	260	cd05047	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	298_G	cd07846	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	258	cd05058	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	245	cd05084	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	268	cd05044	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	247	cd05041	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	244	cd05085	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	295	cd07837	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	264	cd05040	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	267	cd05087	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	269	cd06917	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	518	cd00192	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	279	cd07839	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	272	cd06648	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	265	cd05034	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	319	cd05032	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	266	cd06624	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	265	cd06613	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	266	cd06646	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	293	cd05049	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	338	cd05046	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	346	cd07866	4759226,NP_004603
7046	547777	Disease	p.Arg487Gln	VAR_029484	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029484	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	261	cd06645	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	299	cd06634	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	291	cd05098	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	274	cd07861	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	276	cd07836	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	278	cd05045	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	270	cd06628	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	328_G	cd07841	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	290	cd05605	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	290	cd06639	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	288	cd06610	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	288	cd05148	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	317	cd05601	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	260	cd05109	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	302	cd07864	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	358	cd07829	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	262	cd05086	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	266	cd05042	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	272	cd06638	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	303	cd05099	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	293	cd05088	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	302	cd05053	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	297	cd07835	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	695	smart00219	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	477	pfam07714	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	467	pfam00069	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	264	cd05074	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	275	cd05035	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	278	cd05067	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	252	cd05069	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	258	cd05068	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	253	cd05073	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	253	cd05072	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	252	cd05070	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	278	cd07844	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	271	cd05093	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	312	cd07845	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	252	cd05071	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	271	cd05061	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	270	cd05062	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	345	cd05051	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	294	cd05033	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	321	cd05038	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	254	cd05052	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	250	cd05112	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	246	cd05083	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	273	cd05080	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	284	cd07863	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	297	cd07847	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	284	cd05050	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	334	cd06623	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	288	cd05101	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	247	cd05115	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	314	cd05057	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	275	cd05091	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	275	cd05090	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	278	cd05048	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	273	cd05036	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	260	cd05063	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	289	cd05056	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	272	cd06641	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	272	cd06642	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	260	cd05111	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	248	cd05082	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	256	cd05039	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	290	cd05097	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	301	cd05095	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	258	cd05064	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	249_G	cd05059	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	275	cd05081	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	275	cd05079	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	250	cd05114	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	251	cd05113	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	866	cd00180	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	268	cd05633	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	277	cd05608	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	277	cd05606	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	281	cd06659	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	1227	smart00220	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	254	cd05060	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	260	cd05047	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	298_G	cd07846	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	258	cd05058	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	245	cd05084	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	268	cd05044	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	247	cd05041	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	244	cd05085	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	295	cd07837	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	264	cd05040	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	267	cd05087	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	269	cd06917	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	518	cd00192	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	279	cd07839	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	272	cd06648	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	265	cd05034	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	319	cd05032	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	266	cd06624	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	265	cd06613	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	266	cd06646	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	293	cd05049	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	338	cd05046	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	346	cd07866	4759226,NP_004603
7046	547777	Disease	p.Arg487Trp	VAR_029485	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029485	- Loeys-Dietz syndrome type 2A (LDS2A) [MIM:608967]	SWISS	261	cd06645	4759226,NP_004603
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	66	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	67	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	68	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	102	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	72	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	69	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	90	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	65	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	67	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	65	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	68	cd08228	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	68	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	65	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	65	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	70	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	69	cd08224	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	68	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	72	cd06645	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	72	cd06646	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	70	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	92	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	68	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	82	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	65	cd08217	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	76	cd06612	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	67	cd06610	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	79	cd07838	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	78_G	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	84	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	67	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	87	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	67	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	74	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	66	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	67	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	119	cd05581	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	66	cd06617	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	95	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	70_G	cd05066	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	75	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	71	cd05065	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	94	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	81	cd06638	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	101	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	220	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	102	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	72	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	67	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	77	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	72	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	56	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	66	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	74	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	69	cd05089	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	69	cd06637	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	298	smart00221	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	67	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	69	cd05039	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	67	cd06605	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	71	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	134	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	75	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	74	cd05088	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	74	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	75	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	72_G	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	106	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	80	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	75	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	111	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	87	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	59	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	100	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	68	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	72	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	99	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	72	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	67	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	178	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	73	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	69	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	65	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	69	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	61	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	117	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	62	cd05047	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	87	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	79	cd06636	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	82	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	74	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	74	cd06629	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	75	cd06632	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	84	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	70	cd06651	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	98	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	70	cd06625	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	70	cd06653	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	130	cd06606	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	70	cd06627	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	74	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	201	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	82	cd06639	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	68	cd06626	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	74	cd06628	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	84	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	69	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	76	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	94	cd06608	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	69	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	88	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	69	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Leu308Pro	VAR_022351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022351	rs28934568 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	89	cd05043	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	91	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	90	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	92	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	125	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	109	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	92	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	114	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	88	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	91	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	90	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	80	cd06615	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	96	cd08228	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	96	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	89	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	89	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	94	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	93	cd08224	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	92	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	97	cd06645	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	97	cd06646	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	98	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	124	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	103	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	114	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	91	cd08217	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	96_G	cd06612	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	91	cd06610	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	113	cd07838	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	96	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	116	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	102	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	111	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	91	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	116	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	92	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	91	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	142	cd05581	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	94	cd06617	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	119	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	95	cd05066	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	99	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	95	cd05065	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	120	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	110	cd06638	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	144	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	255	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	151	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	98	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	97	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	107	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	98	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	114	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	90	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	98	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	93	cd05089	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	99	cd06637	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	385	smart00221	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	91	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	94	cd05039	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	94	cd06605	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	100	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	183	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	99	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	98	cd05088	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	100	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	99	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	97	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	132	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	103	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	98	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	148	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	111	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	82	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	126	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	97	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	102	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	130	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	96	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	90	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	288	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	97	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	94	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	89	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	100	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	85	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	152	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	86	cd05047	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	119	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	109	cd06636	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	106	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	110	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	110	cd06629	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	109	cd06632	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	108	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	96	cd06651	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	147	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	96	cd06625	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	96	cd06653	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	165	cd06606	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	95	cd06627	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	98	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	318	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	121	cd06639	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	102	cd06626	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	98	cd06628	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	108	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	90	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	108	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	139	cd06608	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	90	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	112	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	93	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Tyr336Asn	VAR_022352	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022352	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	123	cd05043	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	113	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	112	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	114	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	146	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	128	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	114	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	150	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	110	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	115	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	112	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	111	cd06615	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	116	cd08228	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	116	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	110	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	111	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	115	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	117	cd08224	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	113	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	116	cd06645	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	116	cd06646	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	119	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	159	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	113_G	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	143	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	119	cd08217	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	125	cd06612	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	122	cd06610	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	136	cd07838	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	127	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	148	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	128	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	132	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	111	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	150	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	116	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	109	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	226	cd05581	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	114	cd06617	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	143	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	112	cd05066	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	128	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	112	cd05065	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	160	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	135	cd06638	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	264	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	394	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	190	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	119	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	116	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	133	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	117	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	145	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	110	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	120	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	129	cd05089	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	121	cd06637	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	471	smart00221	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	113	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	116	cd05039	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	127	cd06605	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	123	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	196	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	120	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	134	cd05088	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	137	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	137	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	114	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	174	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	128	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	119	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	171	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	147	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	105	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	625	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	119	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	125	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	162	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	116_G	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	112	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	340	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	118	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	115	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	120	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	114	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	115	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	317	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	122	cd05047	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	144	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	131	cd06636	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	126	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	123_G	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	120	cd06629	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	129	cd06632	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	160	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	116	cd06651	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	153_G	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	116	cd06625	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	116	cd06653	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	190	cd06606	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	109	cd06627	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	134	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	378	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	146	cd06639	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	112	cd06626	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	118	cd06628	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	144	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	112	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	138	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	153	cd06608	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	112	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	151	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	115	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Ala355Pro	VAR_022353	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022353	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	152	cd05043	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	115	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	114	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	116	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	148	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	130	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	116	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	152	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	112	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	117	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	114	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	113	cd06615	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	118	cd08228	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	118	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	112	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	113	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	117	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	119	cd08224	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	115	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	118	cd06645	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	118	cd06646	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	121	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	161	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	115	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	145	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	120_G	cd08217	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	127	cd06612	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	124	cd06610	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	138	cd07838	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	129	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	150	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	130	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	134	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	113	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	152	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	118	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	111	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	228	cd05581	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	116	cd06617	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	145	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	114	cd05066	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	130	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	114	cd05065	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	162	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	136	cd06638	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	266	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	396	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	192	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	121	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	118	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	135	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	119	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	147	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	112	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	122	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	131	cd05089	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	123	cd06637	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	473	smart00221	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	115	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	118	cd05039	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	129	cd06605	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	125	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	198	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	122	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	136	cd05088	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	139	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	139	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	116	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	176	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	130	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	121	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	173	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	149	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	107	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	627	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	121	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	127	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	164	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	116_G	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	114	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	342	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	120	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	117	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	122	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	116	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	117	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	319	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	124	cd05047	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	146	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	133	cd06636	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	128	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	123_G	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	122	cd06629	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	131	cd06632	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	162	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	118	cd06651	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	155	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	118	cd06625	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	118	cd06653	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	192	cd06606	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	119	cd06627	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	136	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	380	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	147	cd06639	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	114	cd06626	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	120	cd06628	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	146	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	114	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	140	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	155	cd06608	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	114	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	153	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	117	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Gly357Trp	VAR_022354	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022354	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	154	cd05043	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	189	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	188	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	190	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	224	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	206	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	190	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	227	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	182	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	194	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	184	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	185	cd06615	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	191	cd08228	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	191	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	186	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	187	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	195	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	192	cd08224	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	193	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	194	cd06645	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	197	cd06646	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	196	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	262	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	194	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	230	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	258	cd08217	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	205	cd06612	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	262	cd06610	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	293	cd07838	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	223	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	254	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	205	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	271	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	188	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	240	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	193	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	197	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	436	cd05581	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	193	cd06617	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	230	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	194	cd05066	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	209	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	196	cd05065	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	239	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	214	cd06638	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	382	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	574	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	337	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	197	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	200	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	210	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	195	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	244	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	199	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	220	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	203	cd05089	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	201	cd06637	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	840	smart00221	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	199	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	191	cd05039	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	209	cd06605	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	194	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	272	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	200	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	208	cd05088	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	219	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	214	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	196	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	251	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	208	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	196	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	250	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	224	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	180	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	797	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	198	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	233	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	261	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	729	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	190	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	670	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	196	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	194	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	204	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	198	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	199	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	423	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	196	cd05047	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	221	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	211	cd06636	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	201	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	199	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	201	cd06629	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	204	cd06632	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	237	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	194	cd06651	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	274	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	195	cd06625	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	194	cd06653	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	331	cd06606	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	230	cd06627	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	211	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	779	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	225	cd06639	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	232	cd06626	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	201	cd06628	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	221	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	188	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	223	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	238	cd06608	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	188	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	228	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	191	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Ser449Phe	VAR_022358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022358	- Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	232	cd05043	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	199_G	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	199	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	200_G	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	235	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	217	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	201	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	236_G	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	192_G	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	203_G	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	194_G	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	193_G	cd06615	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	216	cd08228	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	200_G	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	197	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	197_G	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	206	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	211	cd08224	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	202_G	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	203_G	cd06645	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	216	cd06646	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	205_G	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	273	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	203_G	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	238_G	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	269	cd08217	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	238	cd06612	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	271	cd06610	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	315	cd07838	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	234	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	265_G	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	215	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	283	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	199	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	251	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	203_G	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	211	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	452	cd05581	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	201_G	cd06617	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	240_G	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	205	cd05066	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	219_G	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	220	cd05065	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	248_G	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	225	cd06638	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	393	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	586	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	348	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	208	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	211	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	221	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	206	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	252_G	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	213	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	231	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	214	cd05089	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	212	cd06637	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	863	smart00221	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	208_G	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	209	cd05039	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	226	cd06605	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	203_G	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	280_G	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	209_G	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	219	cd05088	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	229_G	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	224_G	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	205_G	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	261_G	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	225	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	207	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	260_G	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	233_G	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	188_G	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	808	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	209	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	245	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	272	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	737_G	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	201	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	681	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	207	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	205	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	214_G	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	209	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	207_G	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	434	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	207	cd05047	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	233	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	222	cd06636	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	210_G	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	207_G	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	218	cd06629	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	213_G	cd06632	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	247_G	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	205	cd06651	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	285	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	206	cd06625	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	205	cd06653	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	349	cd06606	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	251	cd06627	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	222	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	790	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	236	cd06639	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	240_G	cd06626	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	212	cd06628	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	230_G	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	199	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	234	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	274	cd06608	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	199	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	239	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	202	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Arg460Cys	VAR_029760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029760	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	243	cd05043	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	199_G	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	199	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	200_G	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	235	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	217	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	201	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	236_G	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	192_G	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	203_G	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	194_G	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	193_G	cd06615	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	216	cd08228	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	200_G	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	197	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	197_G	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	206	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	211	cd08224	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	202_G	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	203_G	cd06645	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	216	cd06646	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	205_G	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	273	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	203_G	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	238_G	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	269	cd08217	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	238	cd06612	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	271	cd06610	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	315	cd07838	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	234	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	265_G	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	215	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	283	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	199	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	251	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	203_G	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	211	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	452	cd05581	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	201_G	cd06617	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	240_G	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	205	cd05066	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	219_G	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	220	cd05065	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	248_G	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	225	cd06638	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	393	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	586	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	348	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	208	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	211	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	221	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	206	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	252_G	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	213	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	231	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	214	cd05089	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	212	cd06637	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	863	smart00221	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	208_G	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	209	cd05039	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	226	cd06605	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	203_G	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	280_G	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	209_G	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	219	cd05088	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	229_G	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	224_G	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	205_G	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	261_G	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	225	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	207	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	260_G	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	233_G	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	188_G	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	808	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	209	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	245	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	272	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	737_G	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	201	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	681	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	207	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	205	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	214_G	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	209	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	207_G	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	434	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	207	cd05047	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	233	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	222	cd06636	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	210_G	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	207_G	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	218	cd06629	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	213_G	cd06632	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	247_G	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	205	cd06651	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	285	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	206	cd06625	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	205	cd06653	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	349	cd06606	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	251	cd06627	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	222	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	790	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	236	cd06639	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	240_G	cd06626	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	212	cd06628	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	230_G	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	199	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	234	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	274	cd06608	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	199	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	239	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	202	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Arg460His	VAR_029761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029761	- Aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]	SWISS	243	cd05043	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	248	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	247	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	249	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	284	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	294	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	267	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	286	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	241	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	253	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	243	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	293	cd06615	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	252	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	245	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	246	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	255	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	253	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	260	cd06645	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	255	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	408	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	256	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	342	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	325	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	326	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	290	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	359	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	295	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	353	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	252	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	263	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	289	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	268	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	299	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	472	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	690	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	457	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	270	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	259	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	270	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	268	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	329	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	292	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	279	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	260	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	261	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	333	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	260	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	295	cd05088	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	281	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	273	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	255	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	314	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	300	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	255	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	309	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	283	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	242	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	912	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	299	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	302	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	384	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	812	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	249	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	851	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	270	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	253	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	263	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	259	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	262	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	510	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	314	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	262	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	261	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	271	cd06632	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	297	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	449	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	270	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	1197	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	296	cd06626	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	280	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	247	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	316	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	247	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	296	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	283	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Arg528Cys	VAR_022360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022360	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	291	cd05043	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	248	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	247	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	249	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	284	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	294	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	267	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	286	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	241	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	253	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	243	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	293	cd06615	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	252	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	245	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	246	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	255	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	253	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	260	cd06645	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	255	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	408	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	256	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	342	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	325	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	326	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	290	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	359	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	295	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	353	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	252	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	263	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	289	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	268	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	299	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	472	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	690	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	457	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	270	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	259	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	270	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	268	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	329	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	292	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	279	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	260	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	261	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	333	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	260	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	295	cd05088	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	281	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	273	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	255	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	314	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	300	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	255	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	309	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	283	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	242	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	912	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	299	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	302	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	384	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	812	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	249	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	851	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	270	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	253	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	263	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	259	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	262	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	510	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	314	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	262	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	261	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	271	cd06632	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	297	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	449	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	270	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	1197	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	296	cd06626	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	280	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	247	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	316	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	247	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	296	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	283	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Arg528His	VAR_022361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022361	- Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]	SWISS	291	cd05043	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	260	cd05073	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	259	cd05070	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	258	cd05052	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	293	cd05056	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	304	cd07864	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	276	cd07844	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	292_G	cd05098	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	250	cd05083	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	262	cd05068	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	252	cd05082	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	303	cd06615	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	261	cd08229	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	254	cd05112	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	255	cd05113	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	264	cd06611	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	263	cd06643	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	261	cd05109	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	419	cd07840	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	267	cd06613	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	353	cd05122	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	335	cd07841	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	335	cd08215	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	300	cd07837	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	369	cd07833	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	305	cd07846	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	363	cd07829	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	260_G	cd08530	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	274	cd05601	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	298	cd05033	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	277	cd05036	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	321	cd06614	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	484	pfam07714	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	703	smart00219	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	471	pfam00069	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	279	cd05079	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	268	cd05074	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	279	cd05035	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	277	cd05080	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	346	cd06623	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	301	cd07847	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	288	cd05050	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	269	cd05034	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	271	cd06624	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	342	cd05046	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	270	cd06644	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	297	cd05049	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	282	cd05048	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	264	cd05063	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	323	cd05032	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	311	cd06618	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	264	cd05111	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	318	cd05057	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	289_G	cd05101	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	256	cd05607	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	924	cd05123	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	309	cd05118	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	313	cd07832	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	395	cd07830	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	826	cd05579	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	258	cd05060	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	867	cd00180	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	279	cd05081	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	262	cd05058	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	272	cd05044	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	268	cd05040	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	271	cd05087	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	522	cd00192	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	349	cd07851	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	268_G	cd06648	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	280	cd06917	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	299_G	cd05053	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	477	cd07834	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	279	cd05091	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	1247	smart00220	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	289	cd05099	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	259	cd05069	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	325	cd05038	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	259	cd05071	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	305	cd05095	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	292	cd05148	67782324,NP_003233
7048	116242818	Disease	p.Arg537Cys	VAR_022362	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022362	rs28934869 Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]	SWISS	304	cd05043	67782324,NP_003233
7050	215274200	Disease	p.Ser157Cys	VAR_009961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009961	- Holoprosencephaly type 4 (HPE4) [MIM:142946]	SWISS	No Domain	N/A	28178843,NP_733796
7050	215274200	Disease	p.Pro192Arg	VAR_009962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009962	- Holoprosencephaly type 4 (HPE4) [MIM:142946]	SWISS	30	pfam00046	28178843,NP_733796
7050	215274200	Disease	p.Pro192Arg	VAR_009962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009962	- Holoprosencephaly type 4 (HPE4) [MIM:142946]	SWISS	36	cd00086	28178843,NP_733796
7050	215274200	Disease	p.Pro192Arg	VAR_009962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009962	- Holoprosencephaly type 4 (HPE4) [MIM:142946]	SWISS	44	smart00389	28178843,NP_733796
7050	215274200	Disease	p.Gln236Leu	VAR_023803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023803	- Holoprosencephaly type 4 (HPE4) [MIM:142946]	SWISS	No Domain	N/A	28178843,NP_733796
7050	215274200	Disease	p.Thr280Ala	VAR_009963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009963	- Holoprosencephaly type 4 (HPE4) [MIM:142946]	SWISS	No Domain	N/A	28178843,NP_733796
7050	215274200	Disease	p.Ser291Phe	VAR_009964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009964	- Holoprosencephaly type 4 (HPE4) [MIM:142946]	SWISS	No Domain	N/A	28178843,NP_733796
7051	57015359	Disease	p.Ser42Tyr	VAR_015220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015220	rs41295338 Ichthyosis lamellar type 1 (LI1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Cys53Ser	VAR_058638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058638	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Gly94Asp	VAR_058639	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058639	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Asp102Val	VAR_020918	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020918	- Ichthyosis lamellar type 1 (LI1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Arg126Cys	VAR_058640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058640	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	17	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Arg126His	VAR_058641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058641	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	17	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Tyr134Cys	VAR_058642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058642	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	25	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Arg142Cys	VAR_058643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058643	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	43	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Arg142His	VAR_007476	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007476	- Ichthyosis lamellar type 1 (LI1) [MIM:242300]	SWISS	43	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Arg142Pro	VAR_058644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058644	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	43	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Arg143Cys	VAR_007477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007477	- Ichthyosis lamellar type 1 (LI1) [MIM:242300]	SWISS	44	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Arg143Cys	VAR_007477	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007477	- Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]	SWISS	44	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Arg143His	VAR_007478	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007478	- Ichthyosis lamellar type 1 (LI1) [MIM:242300]	SWISS	44	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Gly144Glu	VAR_058645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058645	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	45	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Gly144Arg	VAR_058646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058646	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	45	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Ser160Cys	VAR_058647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058647	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	68	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Leu205Gln	VAR_058648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058648	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	137	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Val209Phe	VAR_058649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058649	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	141	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Gly218Ser	VAR_007479	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007479	- Ichthyosis lamellar type 1 (LI1) [MIM:242300]	SWISS	150	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Arg225His	VAR_058650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058650	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	163	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Arg225Pro	VAR_058651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058651	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	163	pfam00868	4507475,NP_000350
7051	57015359	Disease	p.Ile243Ser	VAR_058652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058652	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Pro249Leu	VAR_058653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058653	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Arg264Gln	VAR_058654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058654	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Arg264Trp	VAR_058655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058655	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Ser272Pro	VAR_058656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058656	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Tyr276Asn	VAR_058657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058657	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Gly278Arg	VAR_058658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058658	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Glu285Lys	VAR_058659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058659	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Arg286Gln	VAR_058660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058660	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Asn289Thr	VAR_020919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020919	- Ichthyosis lamellar type 1 (LI1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Phe293Val	VAR_058661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058661	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Ile304Phe	VAR_058662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058662	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Arg307Gly	VAR_058663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058663	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Arg307Trp	VAR_020920	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020920	- Ichthyosis lamellar type 1 (LI1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Arg315Cys	VAR_058664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058664	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Arg315His	VAR_058665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058665	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Arg315Leu	VAR_058666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058666	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Arg323Gln	VAR_015221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015221	- Ichthyosis lamellar type 1 (LI1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Arg323Trp	VAR_058667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058667	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Asn330His	VAR_058668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058668	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Ser331Pro	VAR_058669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058669	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Trp342Arg	VAR_058670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058670	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	3	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Ser358Arg	VAR_058671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058671	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	24	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Val359Met	VAR_058672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058672	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	26	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Tyr365Asp	VAR_058673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058673	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	32	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Leu366Pro	VAR_058674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058674	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	33	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Val379Leu	VAR_007480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007480	- Ichthyosis lamellar type 1 (LI1) [MIM:242300]	SWISS	11	smart00460	4507475,NP_000350
7051	57015359	Disease	p.Val379Leu	VAR_007480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007480	- Ichthyosis lamellar type 1 (LI1) [MIM:242300]	SWISS	91	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Val379Leu	VAR_007480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007480	- Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]	SWISS	11	smart00460	4507475,NP_000350
7051	57015359	Disease	p.Val379Leu	VAR_007480	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007480	- Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]	SWISS	91	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Gly382Arg	VAR_058675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058675	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	14	smart00460	4507475,NP_000350
7051	57015359	Disease	p.Gly382Arg	VAR_058675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058675	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	94	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Val383Met	VAR_058676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058676	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	15	smart00460	4507475,NP_000350
7051	57015359	Disease	p.Val383Met	VAR_058676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058676	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	95	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Arg389His	VAR_015222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015222	- Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]	SWISS	21	smart00460	4507475,NP_000350
7051	57015359	Disease	p.Arg389His	VAR_015222	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015222	- Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]	SWISS	101	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Arg389Pro	VAR_058677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058677	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	21	smart00460	4507475,NP_000350
7051	57015359	Disease	p.Arg389Pro	VAR_058677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058677	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	101	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Gly392Asp	VAR_058678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058678	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	24	smart00460	4507475,NP_000350
7051	57015359	Disease	p.Gly392Asp	VAR_058678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058678	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	104	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Arg396His	VAR_058679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058679	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	28	smart00460	4507475,NP_000350
7051	57015359	Disease	p.Arg396His	VAR_058679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058679	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	109	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Arg396Leu	VAR_007481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007481	- Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]	SWISS	28	smart00460	4507475,NP_000350
7051	57015359	Disease	p.Arg396Leu	VAR_007481	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007481	- Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]	SWISS	109	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Arg396Ser	VAR_058680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058680	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	28	smart00460	4507475,NP_000350
7051	57015359	Disease	p.Arg396Ser	VAR_058680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058680	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	109	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Phe401Val	VAR_058681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058681	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	33	smart00460	4507475,NP_000350
7051	57015359	Disease	p.Phe401Val	VAR_058681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058681	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	119	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Asp430Val	VAR_058682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058682	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	62	smart00460	4507475,NP_000350
7051	57015359	Disease	p.Asp430Val	VAR_058682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058682	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	193	pfam01841	4507475,NP_000350
7051	57015359	Disease	p.Gly473Ser	VAR_058683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058683	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Asp490Gly	VAR_058684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058684	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Glu520Gly	VAR_058685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058685	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Tyr544Cys	VAR_058686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058686	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Arg687Cys	VAR_058687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058687	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Arg687His	VAR_058688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058688	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	No Domain	N/A	4507475,NP_000350
7051	57015359	Disease	p.Arg764Cys	VAR_058689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058689	- Ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]	SWISS	88	pfam00927	4507475,NP_000350
9333	20532415	Disease	p.Gly113Cys	VAR_025849	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025849	- Peeling skin syndrome acral type (APSS) [MIM:609796, 270300]	SWISS	150	pfam00868	94981556,NP_963925
7054	239938945	Disease	p.Arg233His	VAR_014026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014026	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	15	COG3186	88900501,NP_954986
7054	239938945	Disease	p.Arg233His	VAR_014026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014026	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	38	cd03345	88900501,NP_954986
7054	239938945	Disease	p.Arg233His	VAR_014026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014026	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	39	pfam00351	88900501,NP_954986
7054	239938945	Disease	p.Arg233His	VAR_014026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014026	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	39	cd03346	88900501,NP_954986
7054	239938945	Disease	p.Arg233His	VAR_014026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014026	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	43	cd03347	88900501,NP_954986
7054	239938945	Disease	p.Leu236Pro	VAR_014027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014027	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	21	COG3186	88900501,NP_954986
7054	239938945	Disease	p.Leu236Pro	VAR_014027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014027	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	41	cd03345	88900501,NP_954986
7054	239938945	Disease	p.Leu236Pro	VAR_014027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014027	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	42	pfam00351	88900501,NP_954986
7054	239938945	Disease	p.Leu236Pro	VAR_014027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014027	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	42	cd03346	88900501,NP_954986
7054	239938945	Disease	p.Leu236Pro	VAR_014027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014027	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	46	cd03347	88900501,NP_954986
7054	239938945	Disease	p.Thr276Pro	VAR_014028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014028	rs28934581 Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	26	cd00361	88900501,NP_954986
7054	239938945	Disease	p.Thr276Pro	VAR_014028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014028	rs28934581 Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	32	cd03348	88900501,NP_954986
7054	239938945	Disease	p.Thr276Pro	VAR_014028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014028	rs28934581 Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	70	COG3186	88900501,NP_954986
7054	239938945	Disease	p.Thr276Pro	VAR_014028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014028	rs28934581 Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	81	cd03345	88900501,NP_954986
7054	239938945	Disease	p.Thr276Pro	VAR_014028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014028	rs28934581 Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	82	pfam00351	88900501,NP_954986
7054	239938945	Disease	p.Thr276Pro	VAR_014028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014028	rs28934581 Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	82	cd03346	88900501,NP_954986
7054	239938945	Disease	p.Thr276Pro	VAR_014028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014028	rs28934581 Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	86	cd03347	88900501,NP_954986
7054	239938945	Disease	p.Thr314Met	VAR_014029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014029	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	64	cd00361	88900501,NP_954986
7054	239938945	Disease	p.Thr314Met	VAR_014029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014029	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	67	cd03348	88900501,NP_954986
7054	239938945	Disease	p.Thr314Met	VAR_014029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014029	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	104	COG3186	88900501,NP_954986
7054	239938945	Disease	p.Thr314Met	VAR_014029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014029	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	119	cd03345	88900501,NP_954986
7054	239938945	Disease	p.Thr314Met	VAR_014029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014029	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	120	pfam00351	88900501,NP_954986
7054	239938945	Disease	p.Thr314Met	VAR_014029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014029	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	120	cd03346	88900501,NP_954986
7054	239938945	Disease	p.Thr314Met	VAR_014029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014029	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	124	cd03347	88900501,NP_954986
7054	239938945	Disease	p.Arg337His	VAR_014030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014030	rs28934580 Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	113	cd00361	88900501,NP_954986
7054	239938945	Disease	p.Arg337His	VAR_014030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014030	rs28934580 Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	116	cd03348	88900501,NP_954986
7054	239938945	Disease	p.Arg337His	VAR_014030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014030	rs28934580 Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	127	COG3186	88900501,NP_954986
7054	239938945	Disease	p.Arg337His	VAR_014030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014030	rs28934580 Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	142	cd03345	88900501,NP_954986
7054	239938945	Disease	p.Arg337His	VAR_014030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014030	rs28934580 Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	143	pfam00351	88900501,NP_954986
7054	239938945	Disease	p.Arg337His	VAR_014030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014030	rs28934580 Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	143	cd03346	88900501,NP_954986
7054	239938945	Disease	p.Arg337His	VAR_014030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014030	rs28934580 Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	147	cd03347	88900501,NP_954986
7054	239938945	Disease	p.Gln412Lys	VAR_014031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014031	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	233	cd00361	88900501,NP_954986
7054	239938945	Disease	p.Gln412Lys	VAR_014031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014031	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	194	cd03348	88900501,NP_954986
7054	239938945	Disease	p.Gln412Lys	VAR_014031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014031	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	218	COG3186	88900501,NP_954986
7054	239938945	Disease	p.Gln412Lys	VAR_014031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014031	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	217	cd03345	88900501,NP_954986
7054	239938945	Disease	p.Gln412Lys	VAR_014031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014031	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	218	pfam00351	88900501,NP_954986
7054	239938945	Disease	p.Gln412Lys	VAR_014031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014031	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	218	cd03346	88900501,NP_954986
7054	239938945	Disease	p.Gln412Lys	VAR_014031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014031	- Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	222	cd03347	88900501,NP_954986
7054	239938945	Disease	p.Thr494Met	VAR_014032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014032	rs45471299 Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	299	COG3186	88900501,NP_954986
7054	239938945	Disease	p.Thr494Met	VAR_014032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014032	rs45471299 Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	300	pfam00351	88900501,NP_954986
7054	239938945	Disease	p.Thr494Met	VAR_014032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014032	rs45471299 Dystonia DOPA-responsive autosomal recessive (ARDRD) [MIM:605407]	SWISS	304	cd03347	88900501,NP_954986
55145	29839656	Disease	p.Phe81Leu	VAR_054788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054788	- Dystonia type 6 (DYT6) [MIM:602629]	SWISS	119	smart00692	8922446,NP_060575
55145	29839656	Disease	p.Phe81Leu	VAR_054788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054788	- Dystonia type 6 (DYT6) [MIM:602629]	SWISS	171	pfam05485	8922446,NP_060575
7056	136170	Disease	p.Asp34Glu	VAR_063673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063673	- Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	11	cd03594	4507483,NP_000352
7056	136170	Disease	p.Asp34Glu	VAR_063673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063673	- Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	2	cd03598	4507483,NP_000352
7056	136170	Disease	p.Asp34Glu	VAR_063673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063673	- Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	30	smart00034	4507483,NP_000352
7056	136170	Disease	p.Asp34Glu	VAR_063673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063673	- Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	5	cd03600	4507483,NP_000352
7056	136170	Disease	p.Ala43Thr	VAR_011368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011368	rs1800576 Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	20	cd03594	4507483,NP_000352
7056	136170	Disease	p.Ala43Thr	VAR_011368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011368	rs1800576 Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	12	cd03598	4507483,NP_000352
7056	136170	Disease	p.Ala43Thr	VAR_011368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011368	rs1800576 Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	3	pfam00059	4507483,NP_000352
7056	136170	Disease	p.Ala43Thr	VAR_011368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011368	rs1800576 Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	28	cd00037	4507483,NP_000352
7056	136170	Disease	p.Ala43Thr	VAR_011368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011368	rs1800576 Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	64	smart00034	4507483,NP_000352
7056	136170	Disease	p.Ala43Thr	VAR_011368	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011368	rs1800576 Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	14	cd03600	4507483,NP_000352
7056	136170	Disease	p.Asp53Gly	VAR_063223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063223	- Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	30	cd03594	4507483,NP_000352
7056	136170	Disease	p.Asp53Gly	VAR_063223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063223	- Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	22	cd03598	4507483,NP_000352
7056	136170	Disease	p.Asp53Gly	VAR_063223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063223	- Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	13	pfam00059	4507483,NP_000352
7056	136170	Disease	p.Asp53Gly	VAR_063223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063223	- Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	38	cd00037	4507483,NP_000352
7056	136170	Disease	p.Asp53Gly	VAR_063223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063223	- Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	74	smart00034	4507483,NP_000352
7056	136170	Disease	p.Asp53Gly	VAR_063223	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063223	- Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	24	cd03600	4507483,NP_000352
7056	136170	Disease	p.Val81Leu	VAR_063224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063224	- Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	60	cd03594	4507483,NP_000352
7056	136170	Disease	p.Val81Leu	VAR_063224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063224	- Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	52	cd03598	4507483,NP_000352
7056	136170	Disease	p.Val81Leu	VAR_063224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063224	- Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	43	pfam00059	4507483,NP_000352
7056	136170	Disease	p.Val81Leu	VAR_063224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063224	- Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	110	cd00037	4507483,NP_000352
7056	136170	Disease	p.Val81Leu	VAR_063224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063224	- Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	184	smart00034	4507483,NP_000352
7056	136170	Disease	p.Val81Leu	VAR_063224	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063224	- Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	58	cd03600	4507483,NP_000352
7056	136170	Disease	p.Ala236Gly	VAR_063674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063674	- Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	No Domain	N/A	4507483,NP_000352
7056	136170	Disease	p.Asp486Tyr	VAR_011371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011371	rs41348347 Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	No Domain	N/A	4507483,NP_000352
7056	136170	Disease	p.Asp486Tyr	VAR_011371	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011371	rs41348347 Thrombophilia due to thrombomodulin defect (THR-THBDD) [MIM:188040]	SWISS	No Domain	N/A	4507483,NP_000352
7056	136170	Disease	p.Pro495Ser	VAR_011372	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011372	rs1800578 Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	No Domain	N/A	4507483,NP_000352
7056	136170	Disease	p.Pro501Leu	VAR_011373	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011373	rs1800579 Hemolytic uremic syndrome atypical type 6 (AHUS6) [MIM:612926]	SWISS	No Domain	N/A	4507483,NP_000352
7068	586092	Disease	p.Ala234Thr	VAR_004632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004632	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	18	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	VAR_004632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004632	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	14	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	VAR_004632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004632	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	76	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	VAR_004632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004632	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	17	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	VAR_004632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004632	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	17	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	VAR_004632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004632	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	16	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	VAR_004632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004632	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	15	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	VAR_004632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004632	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	17	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	VAR_004632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004632	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	17	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	VAR_004632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004632	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	120	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	VAR_004632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004632	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	21	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	VAR_004632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004632	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	16	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	VAR_004632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004632	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	19	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala234Thr	VAR_004632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004632	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	19	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	VAR_004633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004633	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	27	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	VAR_004633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004633	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	23	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	VAR_004633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004633	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	80	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	VAR_004633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004633	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	35	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	VAR_004633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004633	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	25	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	VAR_004633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004633	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	25	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	VAR_004633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004633	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	24	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	VAR_004633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004633	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	26	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	VAR_004633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004633	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	26	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	VAR_004633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004633	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	129	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	VAR_004633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004633	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	35	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	VAR_004633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004633	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	25	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	VAR_004633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004633	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	40	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg243Trp	VAR_004633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004633	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	28	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	45	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	3	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	3	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	3	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	40_G	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	67	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	30	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	21	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	104	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	16	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	42	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	71	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	42	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	45	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	42	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	88	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	42	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	146	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	131	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	37	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	58	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala268Gly	VAR_059041	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059041	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	63	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	181	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	93	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	51	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	53	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	51	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	48	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	18	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	84	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	115	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	78	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	69	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	152	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	64	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	99	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	119	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	90	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	93	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	90	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	140	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	90	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	194	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	182	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	85	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	106	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	111	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	51	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg316His	VAR_004634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004634	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	81	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	182	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	94	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	52	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	54	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	52	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	49	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	19	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	85	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	116	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	79	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	70	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	153	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	65	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	100	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	120	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	91	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	94	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	91	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	141	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	91	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	195	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	183	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	86	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	107	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	112	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	52	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala317Thr	VAR_004635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004635	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	86	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	190	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	97	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	55	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	57	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	55	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	52	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	22	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	88	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	119	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	82	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	76	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	156	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	68	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	123	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	123	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	94	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	97	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	94	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	144	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	94	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	198	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	186	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	89	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	110	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	115	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	55	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320Cys	VAR_004636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004636	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	89	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	190	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	97	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	55	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	57	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	55	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	52	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	22	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	88	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	119	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	82	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	76	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	156	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	68	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	123	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	123	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	94	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	97	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	94	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	144	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	94	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	198	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	186	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	89	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	110	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	115	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	55	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg320His	VAR_004637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004637	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	89	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	310	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	108	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	67	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	68	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	78	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	65	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	34	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	99	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	131	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	143	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	95	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	167	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	80	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	134	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	134	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	105	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	108	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	105	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	155	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	105	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	208	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	196	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	135	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	121	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	126	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	66	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Asn331Asp	VAR_059042	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059042	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	97	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	314	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	109	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	68	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	69	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	79	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	66	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	35	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	100	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	132	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	144	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	96	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	168	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	81	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	135	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	135	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	106	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	109	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	106	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	156	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	106	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	209	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	197	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	135_G	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	122	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	127	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	67	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly332Arg	VAR_004638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004638	rs28999969 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	98	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	334	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	112	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	71	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	72	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	82	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	70	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	40	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	103	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	135	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	148	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	99	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	173	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	83_G	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	138	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	138	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	109	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	112	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	109	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	159	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	109	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	212	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	200	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	138	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	125	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	130	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	70	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ala335Pro	VAR_059043	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059043	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	101	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	377	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	115	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	74	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	108	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	85	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	73	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	43	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	106	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	138	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	151	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	102	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	176	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	86	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	141	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	141	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	112	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	115	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	112	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	162	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	112	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	215	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	204	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	141	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	127_G	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	133	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	99	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg338Trp	VAR_004640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004640	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	104	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	418	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	117	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	76	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	110	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	87	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	75	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	101	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	108	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	140	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	159	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	104	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	178	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	88	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	143	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	143	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	114	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	120	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	114	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	164	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	114	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	217	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	206	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	143	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	128	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	135	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	101	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gln340His	VAR_004641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004641	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	106	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	436	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	118	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	77	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	111	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	88	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	76	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	102	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	109	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	141	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	160	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	118	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	179	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	89	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	144	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	144	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	115	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	121	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	115	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	165	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	115	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	218	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	207	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	152	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	129	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	136	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	102	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu341Pro	VAR_059044	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059044	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	107	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	611	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	119	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	81	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	112	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	101	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	77	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	103	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	110	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	142	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	161	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	119	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	180	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	90	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	145	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	145	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	116	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	122	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	116	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	166	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	116	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	219	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	208	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	153	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	131	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	137	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	103	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys342Ile	VAR_004642	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004642	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	626	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	121	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	84	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	115	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	104	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	108	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	108	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	118	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	154	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	164	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	122	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	183	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	94	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	148	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	147	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	118	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	125	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	119	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	170	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	118	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	222	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	211	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	160	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	134	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	140	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	106	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Arg	VAR_004645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004645	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	626	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	121	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	84	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	115	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	104	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	108	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	108	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	118	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	154	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	164	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	122	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	183	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	94	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	148	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	147	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	118	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	125	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	119	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	170	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	118	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	222	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	211	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	160	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	134	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	140	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	106	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Ser	VAR_004644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004644	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	626	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	121	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	84	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	115	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	104	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	108	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	108	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	118	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	154	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	164	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	122	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	183	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	94	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	148	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	147	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	118	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	125	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	119	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	170	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	118	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	222	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	211	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	160	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	134	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	140	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	106	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly345Val	VAR_004643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004643	rs28999970 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	627	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	122	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	85	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	116	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	105	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	109	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	109	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	119	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	155	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	165	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	123	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	184	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	95	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	149	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	148	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	119	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	126	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	120	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	171	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	119	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	223	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	212	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	161	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	135	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	141	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	107	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Leu346Phe	VAR_059045	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059045	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	651	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	123	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	86	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	117	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	106	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	110	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	112	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	120	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	156	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	166	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	124	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	185	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	96	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	150	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	149	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	120	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	127	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	121	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	172	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	120	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	226	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	213	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	162	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	136	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	142	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	108	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Gly347Glu	VAR_004646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004646	rs28999971 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	652	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	124	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	87	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	118	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	107	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	111	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	113	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	121	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	157	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	167	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	125	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	186	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	97	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	151	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	150	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	121	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	128	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	122	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	173	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	121	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	227	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	214	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	163	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	140	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	143	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	109	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Val348Glu	VAR_004647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004647	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	107_G	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	879	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	204	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	184	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	225	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	189	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	223	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	325	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	202	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	248	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	262	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	205	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	266	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	175	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	230	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	237	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	202	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	209	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	200	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	251	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	200	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	305	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	325	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	245	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	221	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	248	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	202	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Thr426Ile	VAR_004648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004648	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	221	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	882	smart00430	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	207	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	187	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	228	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	192	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	226	cd06930	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	329	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	205	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	251	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	265	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	208	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	269	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	178	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	233	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	240	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	205	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	212	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	203	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	254	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	203	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	308	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	328	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	248	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	224	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	251	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	205	cd06157	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg429Gln	VAR_058508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058508	- Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]	SWISS	224	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	209	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	189	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	230	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	194	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	331	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	207	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	253	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	267	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	224	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	271	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	180	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	235	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	242	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	207	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	214	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	205	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	256	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	205	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	310	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	330	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	250	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	226	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	253	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Ile431Met	VAR_059046	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059046	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	226	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	216	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	196	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	237	cd06929	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	201	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	343	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	214	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	259	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	270	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	231	cd06951	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	280	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	187	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	243	cd06943	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	249	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	214	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	221	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	212	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	263	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	212	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	317	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	337	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	257	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	233	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	260	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Arg438His	VAR_004649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004649	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	243	cd06952	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	VAR_004650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004650	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	220	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	VAR_004650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004650	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	339	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	VAR_004650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004650	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	205	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	VAR_004650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004650	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	354	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	VAR_004650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004650	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	218	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	VAR_004650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004650	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	263	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	VAR_004650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004650	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	274	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	VAR_004650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004650	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	284	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	VAR_004650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004650	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	191	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	VAR_004650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004650	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	253	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	VAR_004650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004650	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	218	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	VAR_004650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004650	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	225	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	VAR_004650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004650	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	216	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	VAR_004650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004650	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	267	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	VAR_004650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004650	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	216	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	VAR_004650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004650	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	321	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	VAR_004650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004650	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	341	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	VAR_004650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004650	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	261	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	VAR_004650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004650	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	237	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Met442Val	VAR_004650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004650	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	264	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	VAR_004651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004651	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	221	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	VAR_004651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004651	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	340	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	VAR_004651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004651	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	206	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	VAR_004651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004651	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	356	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	VAR_004651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004651	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	219	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	VAR_004651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004651	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	264	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	VAR_004651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004651	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	275	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	VAR_004651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004651	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	285	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	VAR_004651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004651	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	192	cd06940	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	VAR_004651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004651	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	254	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	VAR_004651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004651	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	219	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	VAR_004651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004651	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	226	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	VAR_004651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004651	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	218	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	VAR_004651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004651	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	268	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	VAR_004651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004651	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	217	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	VAR_004651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004651	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	322	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	VAR_004651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004651	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	342	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	VAR_004651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004651	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	262	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	VAR_004651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004651	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	238	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Lys443Glu	VAR_004651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004651	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	265	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	VAR_004652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004652	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	226	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	VAR_004652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004652	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	343	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	VAR_004652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004652	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	209	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	VAR_004652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004652	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	363	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	VAR_004652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004652	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	222	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	VAR_004652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004652	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	267	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	VAR_004652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004652	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	278	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	VAR_004652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004652	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	288	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	VAR_004652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004652	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	257	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	VAR_004652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004652	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	221_G	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	VAR_004652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004652	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	229	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	VAR_004652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004652	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	221	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	VAR_004652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004652	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	270_G	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	VAR_004652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004652	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	223	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	VAR_004652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004652	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	325	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	VAR_004652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004652	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	345	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	VAR_004652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004652	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	265	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	VAR_004652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004652	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	247	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Cys446Arg	VAR_004652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004652	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	268	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro447Thr	VAR_059047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059047	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	227	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro447Thr	VAR_059047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059047	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	344	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro447Thr	VAR_059047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059047	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	210	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro447Thr	VAR_059047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059047	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	367	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro447Thr	VAR_059047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059047	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	223	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro447Thr	VAR_059047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059047	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	268	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro447Thr	VAR_059047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059047	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	278_G	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro447Thr	VAR_059047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059047	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	289	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro447Thr	VAR_059047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059047	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	258	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro447Thr	VAR_059047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059047	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	221_G	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro447Thr	VAR_059047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059047	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	229_G	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro447Thr	VAR_059047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059047	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	222	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro447Thr	VAR_059047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059047	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	270_G	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro447Thr	VAR_059047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059047	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	224	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro447Thr	VAR_059047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059047	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	327	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro447Thr	VAR_059047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059047	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	346	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro447Thr	VAR_059047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059047	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	266	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro447Thr	VAR_059047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059047	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	248	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro447Thr	VAR_059047	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059047	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	269	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	VAR_004653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004653	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	234	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	VAR_004653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004653	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	350	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	VAR_004653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004653	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	218	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	VAR_004653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004653	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	373	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	VAR_004653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004653	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	228	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	VAR_004653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004653	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	274	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	VAR_004653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004653	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	280	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	VAR_004653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004653	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	294	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	VAR_004653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004653	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	263	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	VAR_004653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004653	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	226	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	VAR_004653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004653	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	235	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	VAR_004653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004653	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	227	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	VAR_004653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004653	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	276	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	VAR_004653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004653	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	230	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	VAR_004653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004653	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	335	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	VAR_004653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004653	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	352	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	VAR_004653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004653	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	270	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	VAR_004653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004653	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	254	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453His	VAR_004653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004653	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	275	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Leu	VAR_059048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059048	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	234	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Leu	VAR_059048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059048	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	350	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Leu	VAR_059048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059048	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	218	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Leu	VAR_059048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059048	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	373	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Leu	VAR_059048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059048	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	228	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Leu	VAR_059048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059048	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	274	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Leu	VAR_059048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059048	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	280	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Leu	VAR_059048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059048	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	294	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Leu	VAR_059048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059048	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	263	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Leu	VAR_059048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059048	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	226	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Leu	VAR_059048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059048	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	235	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Leu	VAR_059048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059048	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	227	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Leu	VAR_059048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059048	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	276	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Leu	VAR_059048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059048	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	230	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Leu	VAR_059048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059048	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	335	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Leu	VAR_059048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059048	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	352	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Leu	VAR_059048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059048	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	270	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Leu	VAR_059048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059048	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	254	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Leu	VAR_059048	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059048	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	275	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Ser	VAR_004654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004654	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	234	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Ser	VAR_004654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004654	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	350	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Ser	VAR_004654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004654	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	218	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Ser	VAR_004654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004654	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	373	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Ser	VAR_004654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004654	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	228	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Ser	VAR_004654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004654	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	274	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Ser	VAR_004654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004654	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	280	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Ser	VAR_004654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004654	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	294	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Ser	VAR_004654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004654	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	263	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Ser	VAR_004654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004654	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	226	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Ser	VAR_004654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004654	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	235	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Ser	VAR_004654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004654	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	227	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Ser	VAR_004654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004654	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	276	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Ser	VAR_004654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004654	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	230	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Ser	VAR_004654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004654	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	335	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Ser	VAR_004654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004654	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	352	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Ser	VAR_004654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004654	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	270	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Ser	VAR_004654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004654	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	254	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Ser	VAR_004654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004654	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	275	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	VAR_004655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004655	rs28933408 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	234	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	VAR_004655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004655	rs28933408 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	350	cd06942	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	VAR_004655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004655	rs28933408 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	218	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	VAR_004655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004655	rs28933408 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	373	pfam00104	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	VAR_004655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004655	rs28933408 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	228	cd06931	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	VAR_004655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004655	rs28933408 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	274	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	VAR_004655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004655	rs28933408 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	280	cd06953	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	VAR_004655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004655	rs28933408 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	294	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	VAR_004655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004655	rs28933408 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	263	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	VAR_004655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004655	rs28933408 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	226	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	VAR_004655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004655	rs28933408 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	235	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	VAR_004655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004655	rs28933408 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	227	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	VAR_004655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004655	rs28933408 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	276	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	VAR_004655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004655	rs28933408 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	230	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	VAR_004655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004655	rs28933408 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	335	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	VAR_004655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004655	rs28933408 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	352	cd06934	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	VAR_004655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004655	rs28933408 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	270	cd06936	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	VAR_004655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004655	rs28933408 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	254	cd06939	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Pro453Thr	VAR_004655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004655	rs28933408 Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	275	cd06935	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	VAR_059049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059049	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	240	cd07072	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	VAR_059049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059049	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	224	cd06941	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	VAR_059049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059049	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	280	cd07068	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	VAR_059049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059049	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	300	cd06933	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	VAR_059049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059049	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	269	cd06945	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	VAR_059049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059049	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	238	cd07348	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	VAR_059049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059049	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	241	cd06938	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	VAR_059049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059049	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	233	cd06937	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	VAR_059049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059049	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	282	cd06954	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	VAR_059049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059049	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	236	cd07071	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
7068	586092	Disease	p.Phe459Cys	VAR_059049	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_059049	- Generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]	SWISS	341	cd06932	189491769,NP_001121648|189491771,NP_001121649|40806162,NP_000452
1678	6014944	Disease	p.Cys66Trp	VAR_010237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010237	- Mohr-Tranebjaerg syndrome (MTS) [MIM:304700]	SWISS	66	pfam02953	4758152,NP_004076
7078	730948	Disease	p.Ser179Cys	VAR_007508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007508	- Sorsby fundus dystrophy (SFD) [MIM:136900]	SWISS	190	cd03585	4507513,NP_000353
7078	730948	Disease	p.Ser179Cys	VAR_007508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007508	- Sorsby fundus dystrophy (SFD) [MIM:136900]	SWISS	177	smart00206	4507513,NP_000353
7078	730948	Disease	p.Ser179Cys	VAR_007508	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007508	- Sorsby fundus dystrophy (SFD) [MIM:136900]	SWISS	242	pfam00965	4507513,NP_000353
7078	730948	Disease	p.Gly189Cys	VAR_008290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008290	- Sorsby fundus dystrophy (SFD) [MIM:136900]	SWISS	200	cd03585	4507513,NP_000353
7078	730948	Disease	p.Gly189Cys	VAR_008290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008290	- Sorsby fundus dystrophy (SFD) [MIM:136900]	SWISS	187	smart00206	4507513,NP_000353
7078	730948	Disease	p.Gly189Cys	VAR_008290	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008290	- Sorsby fundus dystrophy (SFD) [MIM:136900]	SWISS	253	pfam00965	4507513,NP_000353
7078	730948	Disease	p.Gly190Cys	VAR_010901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010901	- Sorsby fundus dystrophy (SFD) [MIM:136900]	SWISS	201	cd03585	4507513,NP_000353
7078	730948	Disease	p.Gly190Cys	VAR_010901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010901	- Sorsby fundus dystrophy (SFD) [MIM:136900]	SWISS	188	smart00206	4507513,NP_000353
7078	730948	Disease	p.Gly190Cys	VAR_010901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010901	- Sorsby fundus dystrophy (SFD) [MIM:136900]	SWISS	254	pfam00965	4507513,NP_000353
7078	730948	Disease	p.Tyr191Cys	VAR_007509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007509	- Sorsby fundus dystrophy (SFD) [MIM:136900]	SWISS	202	cd03585	4507513,NP_000353
7078	730948	Disease	p.Tyr191Cys	VAR_007509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007509	- Sorsby fundus dystrophy (SFD) [MIM:136900]	SWISS	189	smart00206	4507513,NP_000353
7078	730948	Disease	p.Tyr191Cys	VAR_007509	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007509	- Sorsby fundus dystrophy (SFD) [MIM:136900]	SWISS	255	pfam00965	4507513,NP_000353
7078	730948	Disease	p.Ser204Cys	VAR_007510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007510	- Sorsby fundus dystrophy (SFD) [MIM:136900]	SWISS	No Domain	N/A	4507513,NP_000353
26277	21542262	Disease	p.Lys280Glu	VAR_043914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043914	- Dyskeratosis congenita autosomal dominant (ADDKC) [MIM:127550]	SWISS	No Domain	N/A	151101266,NP_001092744
26277	21542262	Disease	p.Arg282His	VAR_043915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043915	- Dyskeratosis congenita autosomal dominant (ADDKC) [MIM:127550]	SWISS	No Domain	N/A	151101266,NP_001092744
26277	21542262	Disease	p.Arg282His	VAR_043915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043915	- Retinopathy exudative with bone marrow failure (ERBMF) [MIM:268130]	SWISS	No Domain	N/A	151101266,NP_001092744
26277	21542262	Disease	p.Arg282Ser	VAR_043916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043916	- Dyskeratosis congenita autosomal dominant (ADDKC) [MIM:127550]	SWISS	No Domain	N/A	151101266,NP_001092744
9414	13634076	Disease	p.Val48Ala	VAR_016004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016004	- Familial hypercholanemia (FHCA) [MIM:607748]	SWISS	18	pfam00595	NULL
9414	13634076	Disease	p.Val48Ala	VAR_016004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016004	- Familial hypercholanemia (FHCA) [MIM:607748]	SWISS	7	cd00136	NULL
9414	13634076	Disease	p.Val48Ala	VAR_016004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016004	- Familial hypercholanemia (FHCA) [MIM:607748]	SWISS	37	smart00228	NULL
9414	13634076	Disease	p.Val48Ala	VAR_016004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016004	- Familial hypercholanemia (FHCA) [MIM:607748]	SWISS	6	cd00988	NULL
9414	13634076	Disease	p.Val48Ala	VAR_016004	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016004	- Familial hypercholanemia (FHCA) [MIM:607748]	SWISS	33	cd00992	NULL
7084	254763443	Disease	p.Ile53Met	VAR_019419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019419	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	2	cd02019	290656936,NP_004605
7084	254763443	Disease	p.Ile53Met	VAR_019419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019419	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	2	cd02030	290656936,NP_004605
7084	254763443	Disease	p.Ile53Met	VAR_019419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019419	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	2	cd01673	290656936,NP_004605
7084	254763443	Disease	p.Ile53Met	VAR_019419	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019419	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	7	COG1428	290656936,NP_004605
7084	254763443	Disease	p.Thr64Met	VAR_023790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023790	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	13	cd02019	290656936,NP_004605
7084	254763443	Disease	p.Thr64Met	VAR_023790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023790	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	13	cd02030	290656936,NP_004605
7084	254763443	Disease	p.Thr64Met	VAR_023790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023790	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	13	cd01673	290656936,NP_004605
7084	254763443	Disease	p.Thr64Met	VAR_023790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023790	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	18	COG1428	290656936,NP_004605
7084	254763443	Disease	p.Thr108Met	VAR_019420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019420	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	77	cd02019	290656936,NP_004605
7084	254763443	Disease	p.Thr108Met	VAR_019420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019420	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	78	cd02030	290656936,NP_004605
7084	254763443	Disease	p.Thr108Met	VAR_019420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019420	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	88	cd01673	290656936,NP_004605
7084	254763443	Disease	p.Thr108Met	VAR_019420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019420	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	67	COG1428	290656936,NP_004605
7084	254763443	Disease	p.His121Asn	VAR_019421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019421	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	133	cd02019	290656936,NP_004605
7084	254763443	Disease	p.His121Asn	VAR_019421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019421	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	91	cd02030	290656936,NP_004605
7084	254763443	Disease	p.His121Asn	VAR_019421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019421	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	101	cd01673	290656936,NP_004605
7084	254763443	Disease	p.His121Asn	VAR_019421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019421	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	9	pfam01712	290656936,NP_004605
7084	254763443	Disease	p.His121Asn	VAR_019421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019421	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	81	COG1428	290656936,NP_004605
7084	254763443	Disease	p.Arg183Trp	VAR_023791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023791	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	197	cd02019	290656936,NP_004605
7084	254763443	Disease	p.Arg183Trp	VAR_023791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023791	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	177	cd02030	290656936,NP_004605
7084	254763443	Disease	p.Arg183Trp	VAR_023791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023791	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	202	cd01673	290656936,NP_004605
7084	254763443	Disease	p.Arg183Trp	VAR_023791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023791	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	88	pfam01712	290656936,NP_004605
7084	254763443	Disease	p.Arg183Trp	VAR_023791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023791	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	151	COG1428	290656936,NP_004605
7084	254763443	Disease	p.Arg192Lys	VAR_023792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023792	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	206	cd02019	290656936,NP_004605
7084	254763443	Disease	p.Arg192Lys	VAR_023792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023792	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	195	cd02030	290656936,NP_004605
7084	254763443	Disease	p.Arg192Lys	VAR_023792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023792	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	220	cd01673	290656936,NP_004605
7084	254763443	Disease	p.Arg192Lys	VAR_023792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023792	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	97	pfam01712	290656936,NP_004605
7084	254763443	Disease	p.Arg192Lys	VAR_023792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023792	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	160	COG1428	290656936,NP_004605
7084	254763443	Disease	p.Ile212Asn	VAR_019422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019422	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	256	cd02019	290656936,NP_004605
7084	254763443	Disease	p.Ile212Asn	VAR_019422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019422	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	218	cd02030	290656936,NP_004605
7084	254763443	Disease	p.Ile212Asn	VAR_019422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019422	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	244	cd01673	290656936,NP_004605
7084	254763443	Disease	p.Ile212Asn	VAR_019422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019422	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	132	pfam01712	290656936,NP_004605
7084	254763443	Disease	p.Ile212Asn	VAR_019422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019422	- Myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]	SWISS	184	COG1428	290656936,NP_004605
7092	74762106	Disease	p.Met182Leu	VAR_062519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062519	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	33	pfam01400	22547221,NP_036596
7092	74762106	Disease	p.Met182Leu	VAR_062519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062519	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	50	cd04327	22547221,NP_036596
7092	74762106	Disease	p.Met182Leu	VAR_062519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062519	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	47	cd04268	22547221,NP_036596
7092	74762106	Disease	p.Met182Leu	VAR_062519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062519	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	30	cd04280	22547221,NP_036596
7092	74762106	Disease	p.Met182Leu	VAR_062519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062519	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	56	cd04279	22547221,NP_036596
7092	74762106	Disease	p.Met182Leu	VAR_062519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062519	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	26	cd04283	22547221,NP_036596
7092	74762106	Disease	p.Met182Leu	VAR_062519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062519	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	46	cd00203	22547221,NP_036596
7092	74762106	Disease	p.Met182Leu	VAR_062519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062519	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	79	smart00235	22547221,NP_036596
7092	74762106	Disease	p.Met182Leu	VAR_062519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062519	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	82	cd04282	22547221,NP_036596
7092	74762106	Disease	p.Met182Leu	VAR_062519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062519	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	35	cd04281	22547221,NP_036596
7092	74762106	Disease	p.Val238Ala	VAR_062520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062520	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	100	pfam01400	22547221,NP_036596
7092	74762106	Disease	p.Val238Ala	VAR_062520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062520	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	165	cd04327	22547221,NP_036596
7092	74762106	Disease	p.Val238Ala	VAR_062520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062520	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	368	cd04268	22547221,NP_036596
7092	74762106	Disease	p.Val238Ala	VAR_062520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062520	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	114	cd04280	22547221,NP_036596
7092	74762106	Disease	p.Val238Ala	VAR_062520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062520	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	206	cd04279	22547221,NP_036596
7092	74762106	Disease	p.Val238Ala	VAR_062520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062520	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	81	cd04283	22547221,NP_036596
7092	74762106	Disease	p.Val238Ala	VAR_062520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062520	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	248	cd00203	22547221,NP_036596
7092	74762106	Disease	p.Val238Ala	VAR_062520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062520	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	294	smart00235	22547221,NP_036596
7092	74762106	Disease	p.Val238Ala	VAR_062520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062520	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	137	cd04282	22547221,NP_036596
7092	74762106	Disease	p.Val238Ala	VAR_062520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062520	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	95	cd04281	22547221,NP_036596
7092	74762106	Disease	p.Ile629Val	VAR_062521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062521	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	3	smart00042	22547221,NP_036596
7092	74762106	Disease	p.Ile629Val	VAR_062521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062521	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	16	pfam00431	22547221,NP_036596
7092	74762106	Disease	p.Ile629Val	VAR_062521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062521	- Atrial septal defect type 6 (ASD6) [MIM:613087]	SWISS	22	cd00041	22547221,NP_036596
7098	20140422	Disease	p.Pro554Ser	VAR_054887	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054887	- Herpes simplex encephalitis type 2 (HSE2) [MIM:613002]	SWISS	224	cd00116	4507531,NP_003256
117531	212286376	Disease	p.Asp572Asn	VAR_014125	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014125	- Deafness autosomal dominant type 36 (DFNA36) [MIM:606705]	SWISS	64	pfam07810	21071070,NP_619636
117531	212286376	Disease	p.Met654Val	VAR_014126	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014126	- Deafness autosomal recessive type 7 (DFNB7) [MIM:600974]	SWISS	No Domain	N/A	21071070,NP_619636
51259	74734782	Disease	p.Arg12Leu	VAR_063388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063388	- Joubert syndrome type 2 (JBTS2) [MIM:608091]	SWISS	56	pfam09799	NULL
79188	74733151	Disease	p.Ser358Leu	VAR_044438	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044438	- Familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5) [MIM:604400]	SWISS	355	pfam07787	13236587,NP_077310
91147	74707893	Disease	p.Tyr54Cys	VAR_062310	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062310	- Meckel syndrome type 3 (MKS3) [MIM:607361]	SWISS	No Domain	N/A	NULL
91147	74707893	Disease	p.Ser245Phe	VAR_062312	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062312	- Meckel syndrome type 3 (MKS3) [MIM:607361]	SWISS	88	pfam09773	NULL
91147	74707893	Disease	p.Met252Thr	VAR_062313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062313	- Meckel syndrome type 3 (MKS3) [MIM:607361]	SWISS	95	pfam09773	NULL
91147	74707893	Disease	p.Trp296Cys	VAR_062315	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062315	- Meckel syndrome type 3 (MKS3) [MIM:607361]	SWISS	139	pfam09773	NULL
91147	74707893	Disease	p.Gln376Pro	VAR_025474	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025474	- Meckel syndrome type 3 (MKS3) [MIM:607361]	SWISS	219	pfam09773	NULL
91147	74707893	Disease	p.Arg440Gln	VAR_062318	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062318	- Meckel syndrome type 3 (MKS3) [MIM:607361]	SWISS	311	pfam09773	NULL
91147	74707893	Disease	p.Tyr513Cys	VAR_031987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031987	- Joubert syndrome type 6 (JBTS6) [MIM:610688]	SWISS	416	pfam09773	NULL
91147	74707893	Disease	p.Tyr513Cys	VAR_031987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031987	- Meckel syndrome type 3 (MKS3) [MIM:607361]	SWISS	416	pfam09773	NULL
91147	74707893	Disease	p.Gly545Glu	VAR_031988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031988	- Joubert syndrome type 6 (JBTS6) [MIM:610688]	SWISS	449	pfam09773	NULL
91147	74707893	Disease	p.Cys615Arg	VAR_062319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062319	- Meckel syndrome type 3 (MKS3) [MIM:607361]	SWISS	526	pfam09773	NULL
91147	74707893	Disease	p.Leu966Pro	VAR_062320	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062320	- Meckel syndrome type 3 (MKS3) [MIM:607361]	SWISS	930	pfam09773	NULL
259236	212276469	Disease	p.Arg81Cys	VAR_021524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021524	rs28942096 Deafness autosomal recessive type 6 (DFNB6) [MIM:600971]	SWISS	No Domain	N/A	158631211,NP_671729
259236	212276469	Disease	p.Arg84Trp	VAR_021525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021525	rs28942097 Deafness autosomal recessive type 6 (DFNB6) [MIM:600971]	SWISS	No Domain	N/A	158631211,NP_671729
259236	212276469	Disease	p.Arg92Trp	VAR_021526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021526	rs28941781 Deafness autosomal recessive type 6 (DFNB6) [MIM:600971]	SWISS	No Domain	N/A	158631211,NP_671729
164656	209572718	Disease	p.Gly442Arg	VAR_044435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044435	- Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]	SWISS	No Domain	N/A	23957702,NP_705837
164656	209572718	Disease	p.Asp521Asn	VAR_044436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044436	- Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]	SWISS	69	cd00112	23957702,NP_705837
164656	209572718	Disease	p.Asp521Asn	VAR_044436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044436	- Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]	SWISS	60	smart00192	23957702,NP_705837
164656	209572718	Disease	p.Asp521Asn	VAR_044436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044436	- Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]	SWISS	54	pfam00057	23957702,NP_705837
164656	209572718	Disease	p.Arg774Cys	VAR_044437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044437	- Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]	SWISS	369	cd00190	23957702,NP_705837
164656	209572718	Disease	p.Arg774Cys	VAR_044437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044437	- Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]	SWISS	300	pfam00089	23957702,NP_705837
164656	209572718	Disease	p.Arg774Cys	VAR_044437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044437	- Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]	SWISS	518	smart00020	23957702,NP_705837
8792	19924309	Disease	p.Gly53Arg	VAR_046788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046788	- Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301]	SWISS	24	cd00185	4507565,NP_003830
8792	19924309	Disease	p.Gly53Arg	VAR_046788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046788	- Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301]	SWISS	33	smart00208	4507565,NP_003830
8792	19924309	Disease	p.Gly53Arg	VAR_046788	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046788	- Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301]	SWISS	33	pfam00020	4507565,NP_003830
8792	19924309	Disease	p.Arg129Cys	VAR_046789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046789	- Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301]	SWISS	116	cd00185	4507565,NP_003830
8792	19924309	Disease	p.Arg129Cys	VAR_046789	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046789	- Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301]	SWISS	24	smart00208	4507565,NP_003830
8792	19924309	Disease	p.Arg170Gly	VAR_046791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046791	- Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301]	SWISS	20	smart00208	4507565,NP_003830
8792	19924309	Disease	p.Cys175Arg	VAR_046792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046792	- Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301]	SWISS	28	smart00208	4507565,NP_003830
8792	19924309	Disease	p.Ala244Ser	VAR_046793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_046793	- Osteopetrosis autosomal recessive type 7 (OPTB7) [MIM:612301]	SWISS	No Domain	N/A	4507565,NP_003830
23495	21264086	Disease	p.Cys104Arg	VAR_024027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024027	rs34557412 Immunodeficiency common variable type 2 (CVID2) [MIM:240500]	SWISS	36	pfam09305	6912694,NP_036584
23495	21264086	Disease	p.Cys104Arg	VAR_024027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024027	rs34557412 Immunoglobulin A deficiency 2 (IGAD2) [MIM:609529]	SWISS	36	pfam09305	6912694,NP_036584
23495	21264086	Disease	p.Ala181Gly	VAR_024028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024028	- Immunodeficiency common variable type 2 (CVID2) [MIM:240500]	SWISS	No Domain	N/A	6912694,NP_036584
23495	21264086	Disease	p.Arg202His	VAR_024029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024029	- Immunodeficiency common variable type 2 (CVID2) [MIM:240500]	SWISS	No Domain	N/A	6912694,NP_036584
7132	135959	Disease	p.His51Gln	VAR_019329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019329	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	10	smart00208	4507575,NP_001056
7132	135959	Disease	p.His51Gln	VAR_019329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019329	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	10	pfam00020	4507575,NP_001056
7132	135959	Disease	p.His51Gln	VAR_019329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019329	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	8	cd00185	4507575,NP_001056
7132	135959	Disease	p.Cys59Arg	VAR_013410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013410	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	22	smart00208	4507575,NP_001056
7132	135959	Disease	p.Cys59Arg	VAR_013410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013410	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	24	pfam00020	4507575,NP_001056
7132	135959	Disease	p.Cys59Arg	VAR_013410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013410	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	18	cd00185	4507575,NP_001056
7132	135959	Disease	p.Cys59Ser	VAR_019302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019302	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	22	smart00208	4507575,NP_001056
7132	135959	Disease	p.Cys59Ser	VAR_019302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019302	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	24	pfam00020	4507575,NP_001056
7132	135959	Disease	p.Cys59Ser	VAR_019302	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019302	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	18	cd00185	4507575,NP_001056
7132	135959	Disease	p.Cys62Gly	VAR_019303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019303	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	28	smart00208	4507575,NP_001056
7132	135959	Disease	p.Cys62Gly	VAR_019303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019303	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	28	pfam00020	4507575,NP_001056
7132	135959	Disease	p.Cys62Gly	VAR_019303	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019303	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	21	cd00185	4507575,NP_001056
7132	135959	Disease	p.Cys62Tyr	VAR_013411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013411	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	28	smart00208	4507575,NP_001056
7132	135959	Disease	p.Cys62Tyr	VAR_013411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013411	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	28	pfam00020	4507575,NP_001056
7132	135959	Disease	p.Cys62Tyr	VAR_013411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013411	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	21	cd00185	4507575,NP_001056
7132	135959	Disease	p.Pro75Leu	VAR_019330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019330	rs4149637 Familial hibernian fever (FHF) [MIM:142680]	SWISS	43	smart00208	4507575,NP_001056
7132	135959	Disease	p.Pro75Leu	VAR_019330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019330	rs4149637 Familial hibernian fever (FHF) [MIM:142680]	SWISS	43	pfam00020	4507575,NP_001056
7132	135959	Disease	p.Pro75Leu	VAR_019330	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019330	rs4149637 Familial hibernian fever (FHF) [MIM:142680]	SWISS	36	cd00185	4507575,NP_001056
7132	135959	Disease	p.Thr79Met	VAR_013412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013412	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	47	smart00208	4507575,NP_001056
7132	135959	Disease	p.Thr79Met	VAR_013412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013412	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	47	pfam00020	4507575,NP_001056
7132	135959	Disease	p.Thr79Met	VAR_013412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013412	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	40	cd00185	4507575,NP_001056
7132	135959	Disease	p.Cys81Phe	VAR_013413	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013413	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	42	cd00185	4507575,NP_001056
7132	135959	Disease	p.Cys99Ser	VAR_019304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019304	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	19	smart00208	4507575,NP_001056
7132	135959	Disease	p.Cys99Ser	VAR_019304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019304	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	21	pfam00020	4507575,NP_001056
7132	135959	Disease	p.Cys99Ser	VAR_019304	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019304	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	63	cd00185	4507575,NP_001056
7132	135959	Disease	p.Ser115Gly	VAR_019331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019331	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	38	smart00208	4507575,NP_001056
7132	135959	Disease	p.Ser115Gly	VAR_019331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019331	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	38	pfam00020	4507575,NP_001056
7132	135959	Disease	p.Ser115Gly	VAR_019331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019331	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	80	cd00185	4507575,NP_001056
7132	135959	Disease	p.Cys117Arg	VAR_013414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013414	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	40	smart00208	4507575,NP_001056
7132	135959	Disease	p.Cys117Arg	VAR_013414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013414	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	40	pfam00020	4507575,NP_001056
7132	135959	Disease	p.Cys117Arg	VAR_013414	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013414	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	82	cd00185	4507575,NP_001056
7132	135959	Disease	p.Cys117Tyr	VAR_013415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013415	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	40	smart00208	4507575,NP_001056
7132	135959	Disease	p.Cys117Tyr	VAR_013415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013415	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	40	pfam00020	4507575,NP_001056
7132	135959	Disease	p.Cys117Tyr	VAR_013415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013415	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	82	cd00185	4507575,NP_001056
7132	135959	Disease	p.Arg121Pro	VAR_019305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019305	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	45	smart00208	4507575,NP_001056
7132	135959	Disease	p.Arg121Pro	VAR_019305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019305	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	45	pfam00020	4507575,NP_001056
7132	135959	Disease	p.Arg121Pro	VAR_019305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019305	- Familial hibernian fever (FHF) [MIM:142680]	SWISS	86	cd00185	4507575,NP_001056
7132	135959	Disease	p.Arg121Gln	VAR_019332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019332	rs4149584 Familial hibernian fever (FHF) [MIM:142680]	SWISS	45	smart00208	4507575,NP_001056
7132	135959	Disease	p.Arg121Gln	VAR_019332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019332	rs4149584 Familial hibernian fever (FHF) [MIM:142680]	SWISS	45	pfam00020	4507575,NP_001056
7132	135959	Disease	p.Arg121Gln	VAR_019332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019332	rs4149584 Familial hibernian fever (FHF) [MIM:142680]	SWISS	86	cd00185	4507575,NP_001056
8600	12643360	Disease	p.Met199Lys	VAR_037424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037424	- Osteopetrosis autosomal recessive type 2 (OPTB2) [MIM:259710]	SWISS	18	pfam00229	4507595,NP_003692
8600	12643360	Disease	p.Met199Lys	VAR_037424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037424	- Osteopetrosis autosomal recessive type 2 (OPTB2) [MIM:259710]	SWISS	20	smart00207	4507595,NP_003692
8600	12643360	Disease	p.Met199Lys	VAR_037424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037424	- Osteopetrosis autosomal recessive type 2 (OPTB2) [MIM:259710]	SWISS	55	cd00184	4507595,NP_003692
7134	54042075	Disease	p.Ala8Val	VAR_063070	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063070	- Cardiomyopathy familial hypertrophic type 13 (CMH13) [MIM:613243]	SWISS	8	COG5126	4507615,NP_003271
7134	54042075	Disease	p.Leu29Gln	VAR_019776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019776	- Cardiomyopathy familial hypertrophic type 13 (CMH13) [MIM:613243]	SWISS	37	COG5126	4507615,NP_003271
7134	54042075	Disease	p.Leu29Gln	VAR_019776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019776	- Cardiomyopathy familial hypertrophic type 13 (CMH13) [MIM:613243]	SWISS	11	cd00051	4507615,NP_003271
7134	54042075	Disease	p.Leu29Gln	VAR_019776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019776	- Cardiomyopathy familial hypertrophic type 13 (CMH13) [MIM:613243]	SWISS	10	cd00052	4507615,NP_003271
7134	54042075	Disease	p.Cys84Tyr	VAR_063071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063071	- Cardiomyopathy familial hypertrophic type 13 (CMH13) [MIM:613243]	SWISS	99	COG5126	4507615,NP_003271
7134	54042075	Disease	p.Cys84Tyr	VAR_063071	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063071	- Cardiomyopathy familial hypertrophic type 13 (CMH13) [MIM:613243]	SWISS	72	cd00052	4507615,NP_003271
7134	54042075	Disease	p.Glu134Asp	VAR_063072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063072	- Cardiomyopathy familial hypertrophic type 13 (CMH13) [MIM:613243]	SWISS	163	COG5126	4507615,NP_003271
7134	54042075	Disease	p.Glu134Asp	VAR_063072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063072	- Cardiomyopathy familial hypertrophic type 13 (CMH13) [MIM:613243]	SWISS	3	smart00054	4507615,NP_003271
7134	54042075	Disease	p.Glu134Asp	VAR_063072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063072	- Cardiomyopathy familial hypertrophic type 13 (CMH13) [MIM:613243]	SWISS	3	pfam00036	4507615,NP_003271
7134	54042075	Disease	p.Glu134Asp	VAR_063072	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063072	- Cardiomyopathy familial hypertrophic type 13 (CMH13) [MIM:613243]	SWISS	57	cd00051	4507615,NP_003271
7134	54042075	Disease	p.Asp145Glu	VAR_063073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063073	- Cardiomyopathy familial hypertrophic type 13 (CMH13) [MIM:613243]	SWISS	174	COG5126	4507615,NP_003271
7134	54042075	Disease	p.Asp145Glu	VAR_063073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063073	- Cardiomyopathy familial hypertrophic type 13 (CMH13) [MIM:613243]	SWISS	14	smart00054	4507615,NP_003271
7134	54042075	Disease	p.Asp145Glu	VAR_063073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063073	- Cardiomyopathy familial hypertrophic type 13 (CMH13) [MIM:613243]	SWISS	14	pfam00036	4507615,NP_003271
7134	54042075	Disease	p.Asp145Glu	VAR_063073	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063073	- Cardiomyopathy familial hypertrophic type 13 (CMH13) [MIM:613243]	SWISS	68	cd00051	4507615,NP_003271
7134	54042075	Disease	p.Gly159Arg	VAR_043988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043988	- Cardiomyopathy dilated type 1Z (CMD1Z) [MIM:611879]	SWISS	190	COG5126	4507615,NP_003271
7134	54042075	Disease	p.Gly159Arg	VAR_043988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043988	- Cardiomyopathy dilated type 1Z (CMD1Z) [MIM:611879]	SWISS	28	smart00054	4507615,NP_003271
7134	54042075	Disease	p.Gly159Arg	VAR_043988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043988	- Cardiomyopathy dilated type 1Z (CMD1Z) [MIM:611879]	SWISS	28	pfam00036	4507615,NP_003271
7136	1351297	Disease	p.Arg174Gln	VAR_016087	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016087	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	No Domain	N/A	4507621,NP_003273|224967057,NP_001139301
7137	136213	Disease	p.Ala2Val	VAR_043989	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043989	- Cardiomyopathy dilated type 2A (CMD2A) [MIM:611880]	SWISS	2	pfam11636	151101270,NP_000354
7137	136213	Disease	p.Lys36Gln	VAR_063548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063548	- Cardiomyopathy dilated type 1FF (CMD1FF) [MIM:613286]	SWISS	No Domain	N/A	151101270,NP_000354
7137	136213	Disease	p.Pro82Ser	VAR_016078	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016078	- Cardiomyopathy familial hypertrophic type 7 (CMH7) [MIM:191044]	SWISS	37	pfam00992	151101270,NP_000354
7137	136213	Disease	p.Arg141Gln	VAR_019872	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019872	- Cardiomyopathy familial hypertrophic type 7 (CMH7) [MIM:191044]	SWISS	118	pfam00992	151101270,NP_000354
7137	136213	Disease	p.Leu144Gln	VAR_016079	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016079	- Cardiomyopathy familial restrictive type 1 (RCM1) [MIM:115210]	SWISS	121	pfam00992	151101270,NP_000354
7137	136213	Disease	p.Arg145Gly	VAR_007603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007603	- Cardiomyopathy familial hypertrophic type 7 (CMH7) [MIM:191044]	SWISS	122	pfam00992	151101270,NP_000354
7137	136213	Disease	p.Arg145Trp	VAR_016080	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016080	rs28934871 Cardiomyopathy familial restrictive type 1 (RCM1) [MIM:115210]	SWISS	122	pfam00992	151101270,NP_000354
7137	136213	Disease	p.Ala157Val	VAR_019873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019873	- Cardiomyopathy familial hypertrophic type 7 (CMH7) [MIM:191044]	SWISS	134	pfam00992	151101270,NP_000354
7137	136213	Disease	p.Arg162Pro	VAR_019874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019874	- Cardiomyopathy familial hypertrophic type 7 (CMH7) [MIM:191044]	SWISS	139	pfam00992	151101270,NP_000354
7137	136213	Disease	p.Arg162Gln	VAR_042745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042745	- Cardiomyopathy familial hypertrophic type 7 (CMH7) [MIM:191044]	SWISS	139	pfam00992	151101270,NP_000354
7137	136213	Disease	p.Ser166Phe	VAR_029454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029454	- Cardiomyopathy familial hypertrophic type 7 (CMH7) [MIM:191044]	SWISS	No Domain	N/A	151101270,NP_000354
7137	136213	Disease	p.Ala171Thr	VAR_016081	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016081	- Cardiomyopathy familial restrictive type 1 (RCM1) [MIM:115210]	SWISS	No Domain	N/A	151101270,NP_000354
7137	136213	Disease	p.Lys178Glu	VAR_016082	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016082	rs28934870 Cardiomyopathy familial restrictive type 1 (RCM1) [MIM:115210]	SWISS	No Domain	N/A	151101270,NP_000354
7137	136213	Disease	p.Asn185Lys	VAR_063549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063549	- Cardiomyopathy dilated type 1FF (CMD1FF) [MIM:613286]	SWISS	No Domain	N/A	151101270,NP_000354
7137	136213	Disease	p.Arg186Gln	VAR_019876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019876	- Cardiomyopathy familial hypertrophic type 7 (CMH7) [MIM:191044]	SWISS	No Domain	N/A	151101270,NP_000354
7137	136213	Disease	p.Asp190His	VAR_016083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016083	- Cardiomyopathy familial hypertrophic type 7 (CMH7) [MIM:191044]	SWISS	No Domain	N/A	151101270,NP_000354
7137	136213	Disease	p.Asp190His	VAR_016083	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016083	- Cardiomyopathy familial restrictive type 1 (RCM1) [MIM:115210]	SWISS	No Domain	N/A	151101270,NP_000354
7137	136213	Disease	p.Arg192His	VAR_016084	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016084	- Cardiomyopathy familial restrictive type 1 (RCM1) [MIM:115210]	SWISS	No Domain	N/A	151101270,NP_000354
7137	136213	Disease	p.Asp196Asn	VAR_016085	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016085	- Cardiomyopathy familial hypertrophic type 7 (CMH7) [MIM:191044]	SWISS	No Domain	N/A	151101270,NP_000354
7137	136213	Disease	p.Arg204His	VAR_042746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042746	- Cardiomyopathy familial hypertrophic type 7 (CMH7) [MIM:191044]	SWISS	No Domain	N/A	151101270,NP_000354
7137	136213	Disease	p.Lys206Gln	VAR_007604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007604	- Cardiomyopathy familial hypertrophic type 7 (CMH7) [MIM:191044]	SWISS	No Domain	N/A	151101270,NP_000354
7139	21264536	Disease	p.Phe80Leu	VAR_019877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019877	- Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]	SWISS	No Domain	N/A	NULL
7139	21264536	Disease	p.Ile89Asn	VAR_007605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007605	- Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]	SWISS	No Domain	N/A	NULL
7139	21264536	Disease	p.Arg102Leu	VAR_016195	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016195	- Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]	SWISS	No Domain	N/A	NULL
7139	21264536	Disease	p.Arg102Gln	VAR_007606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007606	- Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]	SWISS	No Domain	N/A	NULL
7139	21264536	Disease	p.Arg102Trp	VAR_016196	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016196	- Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]	SWISS	No Domain	N/A	NULL
7139	21264536	Disease	p.Arg104Leu	VAR_009194	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009194	- Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]	SWISS	2	pfam00992	NULL
7139	21264536	Disease	p.Ala114Val	VAR_016197	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016197	- Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]	SWISS	12	pfam00992	NULL
7139	21264536	Disease	p.Phe120Ile	VAR_007607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007607	- Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]	SWISS	18	pfam00992	NULL
7139	21264536	Disease	p.Phe120Val	VAR_019878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019878	- Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]	SWISS	18	pfam00992	NULL
7139	21264536	Disease	p.Arg140Cys	VAR_042747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042747	- Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]	SWISS	41	pfam00992	NULL
7139	21264536	Disease	p.Arg141Trp	VAR_043983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043983	- Cardiomyopathy dilated type 1D (CMD1D) [MIM:601494]	SWISS	42	pfam00992	NULL
7139	21264536	Disease	p.Arg151Trp	VAR_016198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016198	- Cardiomyopathy dilated type 1D (CMD1D) [MIM:601494]	SWISS	57	pfam00992	NULL
7139	21264536	Disease	p.Glu173Lys	VAR_007609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007609	- Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]	SWISS	79	pfam00992	NULL
7139	21264536	Disease	p.Ser189Phe	VAR_016199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016199	- Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]	SWISS	95	pfam00992	NULL
7139	21264536	Disease	p.Arg215Leu	VAR_043984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043984	- Cardiomyopathy dilated type 1D (CMD1D) [MIM:601494]	SWISS	122	pfam00992	NULL
7139	21264536	Disease	p.Glu254Asp	VAR_007610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007610	rs45466197 Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]	SWISS	No Domain	N/A	NULL
7139	21264536	Disease	p.Asn281Ile	VAR_019879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019879	- Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]	SWISS	No Domain	N/A	NULL
7139	21264536	Disease	p.Arg288Cys	VAR_007612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007612	- Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]	SWISS	No Domain	N/A	NULL
7139	21264536	Disease	p.Arg288Pro	VAR_007613	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007613	- Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]	SWISS	No Domain	N/A	NULL
7139	21264536	Disease	p.Arg296Cys	VAR_019880	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019880	- Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]	SWISS	No Domain	N/A	NULL
7140	33518637	Disease	p.Arg74His	VAR_026453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026453	- Distal arthrogryposis type 2B (DA2B) [MIM:601680]	SWISS	2	pfam00992	NULL
8626	57013009	Disease	p.Lys232Glu	VAR_032737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032737	- Split-hand/foot malformation type 4 (SHFM4) [MIM:605289]	SWISS	71	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Lys232Glu	VAR_032737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032737	- Split-hand/foot malformation type 4 (SHFM4) [MIM:605289]	SWISS	103	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Lys233Glu	VAR_020869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020869	- Split-hand/foot malformation type 4 (SHFM4) [MIM:605289]	SWISS	72	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Lys233Glu	VAR_020869	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020869	- Split-hand/foot malformation type 4 (SHFM4) [MIM:605289]	SWISS	104	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Arg243Gln	VAR_020870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020870	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	82	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg243Gln	VAR_020870	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020870	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	122	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Arg243Trp	VAR_020871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020871	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	82	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg243Trp	VAR_020871	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020871	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	122	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Arg266Gln	VAR_032738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032738	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	105	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg266Gln	VAR_032738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032738	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	156	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Cys308Tyr	VAR_032739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032739	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	147	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Cys308Tyr	VAR_032739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032739	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	208	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Ser311Asn	VAR_032740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032740	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	150	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Ser311Asn	VAR_032740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032740	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	211	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Arg318Cys	VAR_032741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032741	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	157	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg318Cys	VAR_032741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032741	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	220	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Arg318His	VAR_020873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020873	- Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400]	SWISS	157	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg318His	VAR_020873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020873	- Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400]	SWISS	220	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Arg318His	VAR_020873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020873	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	157	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg318His	VAR_020873	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020873	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	220	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Arg318Gln	VAR_032742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032742	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	157	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg318Gln	VAR_032742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032742	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	220	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Arg319Cys	VAR_020874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020874	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	158	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg319Cys	VAR_020874	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020874	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	221	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Arg319His	VAR_032743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032743	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	158	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg319His	VAR_032743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032743	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	221	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Arg319His	VAR_032743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032743	- Split-hand/foot malformation type 4 (SHFM4) [MIM:605289]	SWISS	158	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg319His	VAR_032743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032743	- Split-hand/foot malformation type 4 (SHFM4) [MIM:605289]	SWISS	221	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Arg319Ser	VAR_032744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032744	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	158	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg319Ser	VAR_032744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032744	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	221	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Arg337Gln	VAR_020875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020875	- Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285]	SWISS	176	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg337Gln	VAR_020875	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020875	- Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285]	SWISS	244	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Arg343Gln	VAR_020876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020876	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	182	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg343Gln	VAR_020876	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020876	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	264	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Arg343Trp	VAR_032745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032745	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	182	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg343Trp	VAR_032745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032745	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	264	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Cys345Arg	VAR_020877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020877	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	184	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Cys345Arg	VAR_020877	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020877	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	266	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Cys347Ser	VAR_032746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032746	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	186	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Cys347Ser	VAR_032746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032746	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	272	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Pro348Ser	VAR_032747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032747	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	187	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Pro348Ser	VAR_032747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032747	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	273	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Asp351Gly	VAR_020878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020878	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	190	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Asp351Gly	VAR_020878	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020878	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	276	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Asp351His	VAR_032748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032748	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	190	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Asp351His	VAR_032748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032748	- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]	SWISS	276	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Arg352Gly	VAR_035127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035127	- Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400]	SWISS	191	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg352Gly	VAR_035127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035127	- Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400]	SWISS	277	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Arg352Gly	VAR_035127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035127	- Non-syndromic orofacial cleft type 8 (OFC8) [MIM:129400]	SWISS	191	pfam00870	31543818,NP_003713
8626	57013009	Disease	p.Arg352Gly	VAR_035127	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035127	- Non-syndromic orofacial cleft type 8 (OFC8) [MIM:129400]	SWISS	277	cd08367	31543818,NP_003713
8626	57013009	Disease	p.Ile549Thr	VAR_035128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035128	- Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400]	SWISS	7	cd00166	31543818,NP_003713
8626	57013009	Disease	p.Ile549Thr	VAR_035128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035128	- Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400]	SWISS	9	pfam07647	31543818,NP_003713
8626	57013009	Disease	p.Ile549Thr	VAR_035128	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035128	- Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400]	SWISS	9	smart00454	31543818,NP_003713
8626	57013009	Disease	p.Leu553Phe	VAR_020879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020879	- Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260]	SWISS	11	cd00166	31543818,NP_003713
8626	57013009	Disease	p.Leu553Phe	VAR_020879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020879	- Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260]	SWISS	13	pfam07647	31543818,NP_003713
8626	57013009	Disease	p.Leu553Phe	VAR_020879	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020879	- Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260]	SWISS	13	smart00454	31543818,NP_003713
8626	57013009	Disease	p.Cys561Gly	VAR_020881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020881	- Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260]	SWISS	27	cd00166	31543818,NP_003713
8626	57013009	Disease	p.Cys561Gly	VAR_020881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020881	- Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260]	SWISS	28	pfam07647	31543818,NP_003713
8626	57013009	Disease	p.Cys561Gly	VAR_020881	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_020881	- Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) [MIM:106260]	SWISS	35	smart00454	31543818,NP_003713
8626	57013009	Disease	p.Ser580Pro	VAR_035129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035129	- Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400]	SWISS	52	cd00166	31543818,NP_003713
8626	57013009	Disease	p.Ser580Pro	VAR_035129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035129	- Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400]	SWISS	49	pfam07647	31543818,NP_003713
8626	57013009	Disease	p.Ser580Pro	VAR_035129	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035129	- Ectodermal dysplasia Rapp-Hodgkin type (EDRH) [MIM:129400]	SWISS	61	smart00454	31543818,NP_003713
121278	30580625	Disease	p.Arg303Trp	VAR_058942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058942	- Attention deficit-hyperactivity disorder type 7 (ADHD7) [MIM:613003]	SWISS	156	cd03347	31795563,NP_775489
121278	30580625	Disease	p.Arg303Trp	VAR_058942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058942	- Attention deficit-hyperactivity disorder type 7 (ADHD7) [MIM:613003]	SWISS	152	pfam00351	31795563,NP_775489
121278	30580625	Disease	p.Arg303Trp	VAR_058942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058942	- Attention deficit-hyperactivity disorder type 7 (ADHD7) [MIM:613003]	SWISS	152	cd03346	31795563,NP_775489
121278	30580625	Disease	p.Arg303Trp	VAR_058942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058942	- Attention deficit-hyperactivity disorder type 7 (ADHD7) [MIM:613003]	SWISS	136	COG3186	31795563,NP_775489
121278	30580625	Disease	p.Arg303Trp	VAR_058942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058942	- Attention deficit-hyperactivity disorder type 7 (ADHD7) [MIM:613003]	SWISS	122	cd00361	31795563,NP_775489
121278	30580625	Disease	p.Arg303Trp	VAR_058942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058942	- Attention deficit-hyperactivity disorder type 7 (ADHD7) [MIM:613003]	SWISS	125	cd03348	31795563,NP_775489
121278	30580625	Disease	p.Arg303Trp	VAR_058942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058942	- Attention deficit-hyperactivity disorder type 7 (ADHD7) [MIM:613003]	SWISS	151	cd03345	31795563,NP_775489
7167	39932641	Disease	p.Cys42Tyr	VAR_007534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007534	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	52	COG0149	4507645,NP_000356
7167	39932641	Disease	p.Cys42Tyr	VAR_007534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007534	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	68	cd00311	4507645,NP_000356
7167	39932641	Disease	p.Cys42Tyr	VAR_007534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007534	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	48	pfam00121	4507645,NP_000356
7167	39932641	Disease	p.Gly73Ala	VAR_007535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007535	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	93	COG0149	4507645,NP_000356
7167	39932641	Disease	p.Gly73Ala	VAR_007535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007535	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	114	cd00311	4507645,NP_000356
7167	39932641	Disease	p.Gly73Ala	VAR_007535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007535	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	92	pfam00121	4507645,NP_000356
7167	39932641	Disease	p.Glu105Asp	VAR_007536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007536	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	125	COG0149	4507645,NP_000356
7167	39932641	Disease	p.Glu105Asp	VAR_007536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007536	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	184	cd00311	4507645,NP_000356
7167	39932641	Disease	p.Glu105Asp	VAR_007536	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007536	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	127	pfam00121	4507645,NP_000356
7167	39932641	Disease	p.Val155Met	VAR_007538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007538	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	178	COG0149	4507645,NP_000356
7167	39932641	Disease	p.Val155Met	VAR_007538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007538	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	247	cd00311	4507645,NP_000356
7167	39932641	Disease	p.Val155Met	VAR_007538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007538	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	181	pfam00121	4507645,NP_000356
7167	39932641	Disease	p.Ile171Val	VAR_007539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007539	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	197	COG0149	4507645,NP_000356
7167	39932641	Disease	p.Ile171Val	VAR_007539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007539	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	278	cd00311	4507645,NP_000356
7167	39932641	Disease	p.Ile171Val	VAR_007539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007539	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	205	pfam00121	4507645,NP_000356
7167	39932641	Disease	p.Val232Met	VAR_007540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007540	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	259	COG0149	4507645,NP_000356
7167	39932641	Disease	p.Val232Met	VAR_007540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007540	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	343	cd00311	4507645,NP_000356
7167	39932641	Disease	p.Val232Met	VAR_007540	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007540	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	269	pfam00121	4507645,NP_000356
7167	39932641	Disease	p.Phe241Leu	VAR_007541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007541	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	269	COG0149	4507645,NP_000356
7167	39932641	Disease	p.Phe241Leu	VAR_007541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007541	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	357	cd00311	4507645,NP_000356
7167	39932641	Disease	p.Phe241Leu	VAR_007541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007541	- Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]	SWISS	279	pfam00121	4507645,NP_000356
7168	136092	Disease	p.Glu40Lys	VAR_043986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043986	- Cardiomyopathy dilated type 1Y (CMD1Y) [MIM:611878]	SWISS	No Domain	N/A	63252898,NP_001018005
7168	136092	Disease	p.Glu54Lys	VAR_043987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043987	- Cardiomyopathy dilated type 1Y (CMD1Y) [MIM:611878]	SWISS	7	pfam00261	63252898,NP_001018005
7168	136092	Disease	p.Ala63Val	VAR_013135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013135	- Cardiomyopathy familial hypertrophic type 3 (CMH3) [MIM:115196]	SWISS	16	pfam00261	63252898,NP_001018005
7168	136092	Disease	p.Asp175Asn	VAR_007601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007601	rs28934270 Cardiomyopathy familial hypertrophic type 3 (CMH3) [MIM:115196]	SWISS	129	pfam00261	63252898,NP_001018005
7168	136092	Disease	p.Glu180Gly	VAR_007602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007602	rs28934269 Cardiomyopathy familial hypertrophic type 3 (CMH3) [MIM:115196]	SWISS	134	pfam00261	63252898,NP_001018005
7168	136092	Disease	p.Glu180Val	VAR_029452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029452	- Cardiomyopathy familial hypertrophic type 3 (CMH3) [MIM:115196]	SWISS	134	pfam00261	63252898,NP_001018005
7169	136090	Disease	p.Arg91Gly	VAR_016086	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016086	- Distal arthrogryposis type 1 (DA1) [MIM:108120]	SWISS	44	pfam00261	42476296,NP_003280
7169	136090	Disease	p.Glu117Ala	VAR_013468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013468	- Nemaline myopathy type 4 (NEM4) [MIM:609285]	SWISS	70	pfam00261	42476296,NP_003280
7169	136090	Disease	p.Gln147Pro	VAR_013469	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013469	- Nemaline myopathy type 4 (NEM4) [MIM:609285]	SWISS	101	pfam00261	42476296,NP_003280
7170	136085	Disease	p.Met8Arg	VAR_013460	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013460	- Nemaline myopathy type 1 (NEM1) [MIM:609284]	SWISS	No Domain	N/A	NULL
7172	1730006	Disease	p.Ala80Pro	VAR_005637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005637	rs1800462 Thiopurine S-methyltransferase deficiency (TPMT deficiency) [MIM:610460]	SWISS	42	pfam05724	4507653,NP_000358
7172	1730006	Disease	p.Ala154Thr	VAR_005638	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005638	rs1800460 Thiopurine S-methyltransferase deficiency (TPMT deficiency) [MIM:610460]	SWISS	119	pfam05724	4507653,NP_000358
7172	1730006	Disease	p.Arg215His	VAR_008715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008715	rs56161402 Thiopurine S-methyltransferase deficiency (TPMT deficiency) [MIM:610460]	SWISS	189	pfam05724	4507653,NP_000358
7172	1730006	Disease	p.His227Gln	VAR_005640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005640	rs72552736 Thiopurine S-methyltransferase deficiency (TPMT deficiency) [MIM:610460]	SWISS	204	pfam05724	4507653,NP_000358
7172	1730006	Disease	p.Tyr240Cys	VAR_005641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005641	rs1142345 Thiopurine S-methyltransferase deficiency (TPMT deficiency) [MIM:610460]	SWISS	217	pfam05724	4507653,NP_000358
7173	160281455	Disease	p.Ala53Pro	VAR_021622	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021622	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	No Domain	N/A	28558982,NP_000538
7173	160281455	Disease	p.Asp240Asn	VAR_021623	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021623	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	164	pfam03098	28558982,NP_000538
7173	160281455	Disease	p.Asn307Thr	VAR_021624	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021624	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	339	pfam03098	28558982,NP_000538
7173	160281455	Disease	p.Ala326Thr	VAR_021625	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021625	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	389	pfam03098	28558982,NP_000538
7173	160281455	Disease	p.Glu378Lys	VAR_025784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025784	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	505	pfam03098	28558982,NP_000538
7173	160281455	Disease	p.Val433Met	VAR_021626	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021626	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	724	pfam03098	28558982,NP_000538
7173	160281455	Disease	p.Ile447Phe	VAR_015375	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015375	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	776	pfam03098	28558982,NP_000538
7173	160281455	Disease	p.Tyr453Asp	VAR_006060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006060	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	815	pfam03098	28558982,NP_000538
7173	160281455	Disease	p.Leu458Pro	VAR_021627	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021627	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	820	pfam03098	28558982,NP_000538
7173	160281455	Disease	p.Arg491His	VAR_021628	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021628	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	1014	pfam03098	28558982,NP_000538
7173	160281455	Disease	p.Gly493Ser	VAR_021629	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021629	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	1016	pfam03098	28558982,NP_000538
7173	160281455	Disease	p.Pro499Leu	VAR_021630	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021630	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	1025	pfam03098	28558982,NP_000538
7173	160281455	Disease	p.Trp527Cys	VAR_021631	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021631	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	1129	pfam03098	28558982,NP_000538
7173	160281455	Disease	p.Gly533Cys	VAR_027229	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027229	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	1139	pfam03098	28558982,NP_000538
7173	160281455	Disease	p.Gly590Ser	VAR_027231	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027231	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	1357	pfam03098	28558982,NP_000538
7173	160281455	Disease	p.Arg648Gln	VAR_013138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013138	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	1533	pfam03098	28558982,NP_000538
7173	160281455	Disease	p.Gln660Glu	VAR_021632	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021632	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	1553	pfam03098	28558982,NP_000538
7173	160281455	Disease	p.Arg665Trp	VAR_021633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021633	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	1558	pfam03098	28558982,NP_000538
7173	160281455	Disease	p.Arg693Trp	VAR_021634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021634	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	1653	pfam03098	28558982,NP_000538
7173	160281455	Disease	p.Gly771Arg	VAR_021635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021635	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	54	cd00033	28558982,NP_000538
7173	160281455	Disease	p.Gly771Arg	VAR_021635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021635	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	57	smart00032	28558982,NP_000538
7173	160281455	Disease	p.Asp796Tyr	VAR_021636	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021636	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	No Domain	N/A	28558982,NP_000538
7173	160281455	Disease	p.Glu799Lys	VAR_006062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006062	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	4	cd00054	28558982,NP_000538
7173	160281455	Disease	p.Glu799Lys	VAR_006062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006062	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	4	smart00179	28558982,NP_000538
7173	160281455	Disease	p.Glu799Lys	VAR_006062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006062	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	4	pfam07645	28558982,NP_000538
7173	160281455	Disease	p.Cys808Arg	VAR_021637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021637	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	25	cd00054	28558982,NP_000538
7173	160281455	Disease	p.Cys808Arg	VAR_021637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021637	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	25	smart00179	28558982,NP_000538
7173	160281455	Disease	p.Cys808Arg	VAR_021637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021637	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	14	pfam07645	28558982,NP_000538
7173	160281455	Disease	p.Cys808Arg	VAR_021637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021637	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	10	pfam00008	28558982,NP_000538
7173	160281455	Disease	p.Cys808Arg	VAR_021637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021637	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	17	smart00181	28558982,NP_000538
7173	160281455	Disease	p.Cys808Arg	VAR_021637	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021637	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	19	cd00053	28558982,NP_000538
7173	160281455	Disease	p.Val839Ile	VAR_027235	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027235	- Congenital hypothyroidism due to dyshormonogenesis type 2A (CHDH2A) [MIM:274500]	SWISS	No Domain	N/A	28558982,NP_000538
1200	108936017	Disease	p.Gly77Arg	VAR_009603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009603	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	86	pfam09286	5729770,NP_000382
1200	108936017	Disease	p.Arg127Gln	VAR_016790	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016790	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	177	pfam09286	5729770,NP_000382
1200	108936017	Disease	p.Ser153Pro	VAR_016791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016791	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	249	pfam09286	5729770,NP_000382
1200	108936017	Disease	p.Pro202Leu	VAR_063640	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063640	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	4	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Arg206Cys	VAR_009605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009605	rs28940573 Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	8	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Arg206His	VAR_016792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016792	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	8	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Val277Met	VAR_016793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016793	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	178	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Gln278Pro	VAR_016794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016794	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	179	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Gly284Val	VAR_016795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016795	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	185	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Asn286Ser	VAR_016796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016796	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	197	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Ile287Asn	VAR_009606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009606	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	198	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Glu343Lys	VAR_009607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009607	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	329	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Thr353Pro	VAR_016797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016797	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	340	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Cys365Arg	VAR_005643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005643	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	352	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Cys365Tyr	VAR_005644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005644	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	352	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Val385Asp	VAR_009608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009608	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	588	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Gly389Glu	VAR_009609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009609	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	592	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Gln422His	VAR_009610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009610	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	685	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Lys428Asn	VAR_016798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016798	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	691	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Arg447His	VAR_005645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005645	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	753	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Ala454Glu	VAR_009611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009611	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	760	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Gly473Arg	VAR_016799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016799	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	806	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Ser475Leu	VAR_009612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009612	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	808	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Phe481Cys	VAR_016800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016800	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	814	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Gly482Arg	VAR_058435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058435	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	815	cd04056	5729770,NP_000382
1200	108936017	Disease	p.Pro544Ser	VAR_063641	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063641	- Neuronal ceroid lipofuscinosis type 2 (CLN2) [MIM:204500]	SWISS	965	cd04056	5729770,NP_000382
6399	20178096	Disease	p.Asp47Tyr	VAR_012358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012358	- Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]	SWISS	46	COG5603	58533179,NP_001011658|7657548,NP_055378
6399	20178096	Disease	p.Asp47Tyr	VAR_012358	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012358	- Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]	SWISS	90	pfam04628	58533179,NP_001011658|7657548,NP_055378
6399	20178096	Disease	p.Ser73Leu	VAR_012359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012359	- Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]	SWISS	101	COG5603	58533179,NP_001011658|7657548,NP_055378
6399	20178096	Disease	p.Ser73Leu	VAR_012359	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012359	- Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]	SWISS	155	pfam04628	58533179,NP_001011658|7657548,NP_055378
6399	20178096	Disease	p.Phe83Ser	VAR_012361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012361	- Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]	SWISS	111	COG5603	58533179,NP_001011658|7657548,NP_055378
6399	20178096	Disease	p.Phe83Ser	VAR_012361	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012361	- Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]	SWISS	165	pfam04628	58533179,NP_001011658|7657548,NP_055378
6399	20178096	Disease	p.Val130Asp	VAR_012360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012360	- Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]	SWISS	165	COG5603	58533179,NP_001011658|7657548,NP_055378
6399	20178096	Disease	p.Val130Asp	VAR_012360	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012360	- Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]	SWISS	298	pfam04628	58533179,NP_001011658|7657548,NP_055378
54209	50401689	Disease	p.Asp134Gly	VAR_019334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019334	- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) [MIM:221770]	SWISS	No Domain	N/A	9507203,NP_061838
54209	50401689	Disease	p.Lys186Asn	VAR_019335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019335	- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) [MIM:221770]	SWISS	No Domain	N/A	9507203,NP_061838
11277	47606216	Disease	p.Asp73Asn	VAR_037948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037948	- Chilblain lupus (CHBL) [MIM:610448]	SWISS	5	cd06136	7705353,NP_057465
11277	47606216	Disease	p.Asp73Asn	VAR_037948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037948	- Chilblain lupus (CHBL) [MIM:610448]	SWISS	4	cd06127	7705353,NP_057465
11277	47606216	Disease	p.Asp73Asn	VAR_037948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037948	- Chilblain lupus (CHBL) [MIM:610448]	SWISS	4	cd06125	7705353,NP_057465
11277	47606216	Disease	p.Asp73Asn	VAR_037948	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037948	- Chilblain lupus (CHBL) [MIM:610448]	SWISS	6	smart00479	7705353,NP_057465
11277	47606216	Disease	p.Arg169His	VAR_028319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028319	- Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750]	SWISS	114	cd06136	7705353,NP_057465
11277	47606216	Disease	p.Arg169His	VAR_028319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028319	- Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750]	SWISS	136	cd06127	7705353,NP_057465
11277	47606216	Disease	p.Arg169His	VAR_028319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028319	- Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750]	SWISS	121	cd06125	7705353,NP_057465
11277	47606216	Disease	p.Arg169His	VAR_028319	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028319	- Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750]	SWISS	225	smart00479	7705353,NP_057465
11277	47606216	Disease	p.Asp255Asn	VAR_032940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032940	- Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750]	SWISS	384	cd06136	7705353,NP_057465
11277	47606216	Disease	p.Asp255Asn	VAR_032940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032940	- Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750]	SWISS	277	cd06127	7705353,NP_057465
11277	47606216	Disease	p.Asp255Asn	VAR_032940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032940	- Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750]	SWISS	253	cd06125	7705353,NP_057465
11277	47606216	Disease	p.Asp255Asn	VAR_032940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032940	- Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750]	SWISS	398	smart00479	7705353,NP_057465
11277	47606216	Disease	p.Val256Asp	VAR_028321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028321	- Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750]	SWISS	385	cd06136	7705353,NP_057465
11277	47606216	Disease	p.Val256Asp	VAR_028321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028321	- Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750]	SWISS	278	cd06127	7705353,NP_057465
11277	47606216	Disease	p.Val256Asp	VAR_028321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028321	- Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750]	SWISS	254	cd06125	7705353,NP_057465
11277	47606216	Disease	p.Val256Asp	VAR_028321	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028321	- Aicardi-Goutieres syndrome type 1 (AGS1) [MIM:225750]	SWISS	399	smart00479	7705353,NP_057465
22954	20178303	Disease	p.Pro130Ser	VAR_038807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038807	- Bardet-Biedl syndrome type 11 (BBS11) [MIM:209900]	SWISS	36	cd00021	153791514,NP_001093149|153792582,NP_036342
22954	20178303	Disease	p.Pro130Ser	VAR_038807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038807	- Bardet-Biedl syndrome type 11 (BBS11) [MIM:209900]	SWISS	46	smart00336	153791514,NP_001093149|153792582,NP_036342
22954	20178303	Disease	p.Arg394His	VAR_042939	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042939	- Limb-girdle muscular dystrophy type 2H (LGMD2H) [MIM:254110]	SWISS	28	pfam01436	153791514,NP_001093149|153792582,NP_036342
22954	20178303	Disease	p.Asp487Asn	VAR_018725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018725	- Limb-girdle muscular dystrophy type 2H (LGMD2H) [MIM:254110]	SWISS	21	pfam01436	153791514,NP_001093149|153792582,NP_036342
4591	55976224	Disease	p.Leu76Pro	VAR_060217	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060217	- Mulibrey nanism (MUL) [MIM:253250]	SWISS	No Domain	N/A	15147333,NP_056109|52487176,NP_001005207
4591	55976224	Disease	p.Cys109Ser	VAR_060219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060219	- Mulibrey nanism (MUL) [MIM:253250]	SWISS	26	smart00336	15147333,NP_056109|52487176,NP_001005207
4591	55976224	Disease	p.Cys109Ser	VAR_060219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060219	- Mulibrey nanism (MUL) [MIM:253250]	SWISS	31	pfam00643	15147333,NP_056109|52487176,NP_001005207
4591	55976224	Disease	p.Cys109Ser	VAR_060219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060219	- Mulibrey nanism (MUL) [MIM:253250]	SWISS	19	cd00021	15147333,NP_056109|52487176,NP_001005207
4591	55976224	Disease	p.Gly322Val	VAR_060220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060220	- Mulibrey nanism (MUL) [MIM:253250]	SWISS	68	pfam00917	15147333,NP_056109|52487176,NP_001005207
4591	55976224	Disease	p.Gly322Val	VAR_060220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060220	- Mulibrey nanism (MUL) [MIM:253250]	SWISS	51	cd03773	15147333,NP_056109|52487176,NP_001005207
4591	55976224	Disease	p.Gly322Val	VAR_060220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060220	- Mulibrey nanism (MUL) [MIM:253250]	SWISS	88	cd00121	15147333,NP_056109|52487176,NP_001005207
4591	55976224	Disease	p.Gly322Val	VAR_060220	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060220	- Mulibrey nanism (MUL) [MIM:253250]	SWISS	91	smart00061	15147333,NP_056109|52487176,NP_001005207
11078	90110075	Disease	p.Gly1019Arg	VAR_025719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025719	- Deafness autosomal recessive type 28 (DFNB28) [MIM:609823]	SWISS	No Domain	N/A	88501738,NP_001034230
55687	8134740	Disease	p.Tyr77His	VAR_063429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063429	- Acute infantile liver failure (AILF) [MIM:613070]	SWISS	118	cd01998	31542641,NP_060476
55687	8134740	Disease	p.Tyr77His	VAR_063429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063429	- Acute infantile liver failure (AILF) [MIM:613070]	SWISS	89	COG0482	31542641,NP_060476
55687	8134740	Disease	p.Tyr77His	VAR_063429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063429	- Acute infantile liver failure (AILF) [MIM:613070]	SWISS	84	cd01986	31542641,NP_060476
55687	8134740	Disease	p.Tyr77His	VAR_063429	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063429	- Acute infantile liver failure (AILF) [MIM:613070]	SWISS	86	pfam03054	31542641,NP_060476
55687	8134740	Disease	p.Gly272Asp	VAR_063430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063430	- Acute infantile liver failure (AILF) [MIM:613070]	SWISS	417	cd01998	31542641,NP_060476
55687	8134740	Disease	p.Gly272Asp	VAR_063430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063430	- Acute infantile liver failure (AILF) [MIM:613070]	SWISS	295	COG0482	31542641,NP_060476
55687	8134740	Disease	p.Gly272Asp	VAR_063430	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063430	- Acute infantile liver failure (AILF) [MIM:613070]	SWISS	304	pfam03054	31542641,NP_060476
7225	6686048	Disease	p.Pro112Gln	VAR_026730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026730	- Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965]	SWISS	45	cd00204	5730102,NP_004612
7225	6686048	Disease	p.Asn143Ser	VAR_026731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026731	- Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965]	SWISS	121	cd00204	5730102,NP_004612
7225	6686048	Disease	p.Ser270Thr	VAR_026732	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026732	- Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965]	SWISS	18	pfam08344	5730102,NP_004612
7225	6686048	Disease	p.Arg895Cys	VAR_026733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026733	- Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965]	SWISS	No Domain	N/A	5730102,NP_004612
7225	6686048	Disease	p.Glu897Lys	VAR_026734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026734	- Focal segmental glomerulosclerosis type 2 (FSGS2) [MIM:603965]	SWISS	No Domain	N/A	5730102,NP_004612
4308	182701419	Disease	p.Tyr56Cys	VAR_063174	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063174	- Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]	SWISS	No Domain	N/A	94538366,NP_002411
4308	182701419	Disease	p.Tyr72Cys	VAR_063175	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063175	- Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]	SWISS	No Domain	N/A	94538366,NP_002411
4308	182701419	Disease	p.Arg74Cys	VAR_063176	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063176	- Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]	SWISS	No Domain	N/A	94538366,NP_002411
4308	182701419	Disease	p.Leu99Pro	VAR_063177	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063177	- Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]	SWISS	No Domain	N/A	94538366,NP_002411
4308	182701419	Disease	p.Leu364Arg	VAR_063178	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063178	- Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]	SWISS	No Domain	N/A	94538366,NP_002411
4308	182701419	Disease	p.Arg473Pro	VAR_063180	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063180	- Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]	SWISS	No Domain	N/A	94538366,NP_002411
4308	182701419	Disease	p.Gly534Arg	VAR_063181	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063181	- Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]	SWISS	No Domain	N/A	94538366,NP_002411
4308	182701419	Disease	p.Met541Lys	VAR_063182	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063182	- Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]	SWISS	No Domain	N/A	94538366,NP_002411
4308	182701419	Disease	p.Pro611His	VAR_063183	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063183	- Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]	SWISS	No Domain	N/A	94538366,NP_002411
4308	182701419	Disease	p.Arg721Gln	VAR_063184	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063184	- Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]	SWISS	No Domain	N/A	94538366,NP_002411
4308	182701419	Disease	p.Glu883Gly	VAR_063185	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063185	- Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]	SWISS	22	pfam00520	94538366,NP_002411
4308	182701419	Disease	p.Ile1002Phe	VAR_063187	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063187	- Congenital stationary night blindness type 1C (CSNB1C) [MIM:613216]	SWISS	319	pfam00520	94538366,NP_002411
140803	56404951	Disease	p.Ser141Leu	VAR_019963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019963	- Hypomagnesemia type 1 (HOMG1) [MIM:602014]	SWISS	No Domain	N/A	18921093,NP_060132
7227	20140909	Disease	p.Val894Asp	VAR_012807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012807	- Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]	SWISS	4	smart00401	NULL
7227	20140909	Disease	p.Thr901Pro	VAR_012808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012808	- Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]	SWISS	14	smart00401	NULL
7227	20140909	Disease	p.Thr901Pro	VAR_012808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012808	- Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]	SWISS	9	cd00202	NULL
7227	20140909	Disease	p.Thr901Pro	VAR_012808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012808	- Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]	SWISS	8	pfam00320	NULL
7227	20140909	Disease	p.Arg908Pro	VAR_012809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012809	- Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]	SWISS	21	smart00401	NULL
7227	20140909	Disease	p.Arg908Pro	VAR_012809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012809	- Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]	SWISS	18	cd00202	NULL
7227	20140909	Disease	p.Arg908Pro	VAR_012809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012809	- Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]	SWISS	17	pfam00320	NULL
7227	20140909	Disease	p.Arg908Gln	VAR_012810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012810	- Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]	SWISS	21	smart00401	NULL
7227	20140909	Disease	p.Arg908Gln	VAR_012810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012810	- Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]	SWISS	18	cd00202	NULL
7227	20140909	Disease	p.Arg908Gln	VAR_012810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012810	- Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]	SWISS	17	pfam00320	NULL
7227	20140909	Disease	p.Ala919Thr	VAR_012811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012811	- Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]	SWISS	35	smart00401	NULL
7227	20140909	Disease	p.Ala919Thr	VAR_012811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012811	- Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]	SWISS	32	cd00202	NULL
7227	20140909	Disease	p.Ala919Thr	VAR_012811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012811	- Tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]	SWISS	33	pfam00320	NULL
7227	20140909	Disease	p.Arg952Cys	VAR_038198	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038198	- Tricho-rhino-phalangeal syndrome type 1 (TRPS1) [MIM:190350]	SWISS	No Domain	N/A	NULL
7227	20140909	Disease	p.Arg952His	VAR_038199	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038199	- Tricho-rhino-phalangeal syndrome type 1 (TRPS1) [MIM:190350]	SWISS	No Domain	N/A	NULL
59341	62901470	Disease	p.Arg269Cys	VAR_063528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063528	- Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071]	SWISS	83	cd00204	22547184,NP_067638
59341	62901470	Disease	p.Arg269His	VAR_063529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063529	- Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071]	SWISS	83	cd00204	22547184,NP_067638
59341	62901470	Disease	p.Arg269His	VAR_063529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063529	- Distal spinal muscular atrophy congenital non-progressive (DSMAC) [MIM:600175]	SWISS	83	cd00204	22547184,NP_067638
59341	62901470	Disease	p.Arg315Trp	VAR_063541	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063541	- Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071]	SWISS	199	cd00204	22547184,NP_067638
59341	62901470	Disease	p.Arg316Cys	VAR_063530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063530	- Charcot-Marie-Tooth disease type 2C (CMT2C) [MIM:606071]	SWISS	200	cd00204	22547184,NP_067638
59341	62901470	Disease	p.Arg316Cys	VAR_063530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063530	- Scapuloperoneal spinal muscular atrophy (SPSMA) [MIM:181405]	SWISS	200	cd00204	22547184,NP_067638
59341	62901470	Disease	p.Ile331Phe	VAR_062331	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062331	- Metatropic dysplasia (MTD) [MIM:156530]	SWISS	264	cd00204	22547184,NP_067638
59341	62901470	Disease	p.Asp333Gly	VAR_062332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062332	- Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]	SWISS	266	cd00204	22547184,NP_067638
59341	62901470	Disease	p.Arg594His	VAR_062333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062333	- Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]	SWISS	148	pfam00520	22547184,NP_067638
59341	62901470	Disease	p.Arg616Gln	VAR_054805	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054805	- Brachyolmia type 3 (BRAC3) [MIM:113500]	SWISS	179	pfam00520	22547184,NP_067638
59341	62901470	Disease	p.Val620Ile	VAR_054806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054806	- Brachyolmia type 3 (BRAC3) [MIM:113500]	SWISS	183	pfam00520	22547184,NP_067638
59341	62901470	Disease	p.Ala716Ser	VAR_062334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062334	- Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252]	SWISS	405	pfam00520	22547184,NP_067638
59341	62901470	Disease	p.Pro799Leu	VAR_062335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062335	- Metatropic dysplasia (MTD) [MIM:156530]	SWISS	No Domain	N/A	22547184,NP_067638
7248	9297077	Disease	p.Glu51Asp	VAR_009397	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009397	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	50	pfam04388	4507693,NP_000359
7248	9297077	Disease	p.Leu72Pro	VAR_054387	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054387	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	71	pfam04388	4507693,NP_000359
7248	9297077	Disease	p.Leu191His	VAR_009399	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009399	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	227	pfam04388	4507693,NP_000359
7248	9297077	Disease	p.Met224Arg	VAR_009401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009401	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	297	pfam04388	4507693,NP_000359
7248	9297077	Disease	p.Thr417Ile	VAR_009403	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009403	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	541	pfam04388	4507693,NP_000359
7248	9297077	Disease	p.Arg500Gln	VAR_054391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054391	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	642	pfam04388	4507693,NP_000359
7248	9297077	Disease	p.Lys587Arg	VAR_009406	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009406	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	763	pfam04388	4507693,NP_000359
7248	9297077	Disease	p.Gln654Glu	VAR_009407	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009407	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	853	pfam04388	4507693,NP_000359
7248	9297077	Disease	p.Ala726Glu	VAR_009408	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009408	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	4507693,NP_000359
7248	9297077	Disease	p.His732Tyr	VAR_009409	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009409	- Focal cortical dysplasia of Taylor balloon cell type (FCDBC) [MIM:607341]	SWISS	No Domain	N/A	4507693,NP_000359
7248	9297077	Disease	p.Thr899Ser	VAR_009412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009412	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	4507693,NP_000359
7249	269849475	Disease	p.His137Arg	VAR_009415	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009415	rs45517107 Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	143	pfam11864	116256352,NP_000539
7249	269849475	Disease	p.Cys227Tyr	VAR_008020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008020	rs45517122 Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	459	pfam11864	116256352,NP_000539
7249	269849475	Disease	p.Lys258Asn	VAR_009417	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009417	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	798	pfam11864	116256352,NP_000539
7249	269849475	Disease	p.Arg261Pro	VAR_009418	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009418	rs45502703 Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	806	pfam11864	116256352,NP_000539
7249	269849475	Disease	p.Leu292Pro	VAR_005646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005646	rs45517138 Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	867	pfam11864	116256352,NP_000539
7249	269849475	Disease	p.Gly294Glu	VAR_009422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009422	rs45487497 Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	894	pfam11864	116256352,NP_000539
7249	269849475	Disease	p.Asn331Lys	VAR_008021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008021	rs45517153 Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	959	pfam11864	116256352,NP_000539
7249	269849475	Disease	p.Leu361Pro	VAR_009426	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009426	rs45517147 Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	1002	pfam11864	116256352,NP_000539
7249	269849475	Disease	p.Tyr407Asp	VAR_005647	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005647	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	1136	pfam11864	116256352,NP_000539
7249	269849475	Disease	p.Met449Ile	VAR_005648	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005648	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	1186	pfam11864	116256352,NP_000539
7249	269849475	Disease	p.Asn486Ile	VAR_008022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008022	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	116256352,NP_000539
7249	269849475	Disease	p.Asn525Ser	VAR_009432	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009432	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	116256352,NP_000539
7249	269849475	Disease	p.Lys599Met	VAR_009435	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009435	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	50	pfam03542	116256352,NP_000539
7249	269849475	Disease	p.Arg611Gln	VAR_005650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005650	- Lymphangioleiomyomatosis (LAM) [MIM:606690]	SWISS	62	pfam03542	116256352,NP_000539
7249	269849475	Disease	p.Arg611Gln	VAR_005650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005650	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	62	pfam03542	116256352,NP_000539
7249	269849475	Disease	p.Arg611Trp	VAR_005651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005651	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	62	pfam03542	116256352,NP_000539
7249	269849475	Disease	p.Ala614Asp	VAR_009436	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009436	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	65	pfam03542	116256352,NP_000539
7249	269849475	Disease	p.Asp647Asn	VAR_009437	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009437	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	102	pfam03542	116256352,NP_000539
7249	269849475	Disease	p.Cys696Tyr	VAR_009439	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009439	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	162	pfam03542	116256352,NP_000539
7249	269849475	Disease	p.Leu717Arg	VAR_009440	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009440	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	183	pfam03542	116256352,NP_000539
7249	269849475	Disease	p.Val769Glu	VAR_009441	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009441	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	237	pfam03542	116256352,NP_000539
7249	269849475	Disease	p.Pro816Leu	VAR_008026	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008026	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	284	pfam03542	116256352,NP_000539
7249	269849475	Disease	p.Leu826Met	VAR_005652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005652	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	294	pfam03542	116256352,NP_000539
7249	269849475	Disease	p.Met895Val	VAR_009442	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009442	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	364	pfam03542	116256352,NP_000539
7249	269849475	Disease	p.Arg905Gln	VAR_005653	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005653	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	116256352,NP_000539
7249	269849475	Disease	p.Arg905Trp	VAR_005654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005654	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	116256352,NP_000539
7249	269849475	Disease	p.Val963Met	VAR_009443	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009443	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	116256352,NP_000539
7249	269849475	Disease	p.Leu1027Pro	VAR_022919	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022919	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	116256352,NP_000539
7249	269849475	Disease	p.Asp1084Glu	VAR_005655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005655	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	116256352,NP_000539
7249	269849475	Disease	p.Val1144Met	VAR_008027	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008027	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	116256352,NP_000539
7249	269849475	Disease	p.Arg1200Trp	VAR_005656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005656	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	116256352,NP_000539
7249	269849475	Disease	p.Pro1227Leu	VAR_005657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005657	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	116256352,NP_000539
7249	269849475	Disease	p.Arg1240Trp	VAR_005658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005658	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	116256352,NP_000539
7249	269849475	Disease	p.Asp1295Val	VAR_005659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005659	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	116256352,NP_000539
7249	269849475	Disease	p.Pro1315Ser	VAR_008028	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008028	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	116256352,NP_000539
7249	269849475	Disease	p.Arg1329His	VAR_008029	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008029	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	116256352,NP_000539
7249	269849475	Disease	p.Pro1497Arg	VAR_009445	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009445	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	116256352,NP_000539
7249	269849475	Disease	p.Ser1498Asn	VAR_009446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009446	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	116256352,NP_000539
7249	269849475	Disease	p.Tyr1549Cys	VAR_005661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005661	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	116256352,NP_000539
7249	269849475	Disease	p.Leu1594Met	VAR_009447	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009447	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	80	pfam02145	116256352,NP_000539
7249	269849475	Disease	p.His1620Tyr	VAR_009448	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009448	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	122	pfam02145	116256352,NP_000539
7249	269849475	Disease	p.Asn1643Ile	VAR_005663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005663	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	165	pfam02145	116256352,NP_000539
7249	269849475	Disease	p.Asn1643Lys	VAR_009449	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009449	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	165	pfam02145	116256352,NP_000539
7249	269849475	Disease	p.Tyr1650Cys	VAR_005664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005664	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	172	pfam02145	116256352,NP_000539
7249	269849475	Disease	p.Asn1651Ser	VAR_009450	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009450	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	177	pfam02145	116256352,NP_000539
7249	269849475	Disease	p.Ser1653Phe	VAR_018603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018603	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	179	pfam02145	116256352,NP_000539
7249	269849475	Disease	p.Pro1675Leu	VAR_009451	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009451	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	246	pfam02145	116256352,NP_000539
7249	269849475	Disease	p.Asn1681Lys	VAR_009452	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009452	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	271	pfam02145	116256352,NP_000539
7249	269849475	Disease	p.Asp1690Tyr	VAR_005665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005665	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	408	pfam02145	116256352,NP_000539
7249	269849475	Disease	p.Ser1704Thr	VAR_009453	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009453	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	425	pfam02145	116256352,NP_000539
7249	269849475	Disease	p.Pro1709Leu	VAR_008030	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008030	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	438	pfam02145	116256352,NP_000539
7249	269849475	Disease	p.Ala1712Glu	VAR_005666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005666	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	441	pfam02145	116256352,NP_000539
7249	269849475	Disease	p.Arg1743Pro	VAR_009454	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009454	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	485	pfam02145	116256352,NP_000539
7249	269849475	Disease	p.Arg1743Gln	VAR_008031	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008031	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	485	pfam02145	116256352,NP_000539
7249	269849475	Disease	p.Leu1744Pro	VAR_009455	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009455	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	486	pfam02145	116256352,NP_000539
7249	269849475	Disease	p.Leu1750Phe	VAR_005667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005667	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	116256352,NP_000539
7249	269849475	Disease	p.His1773Pro	VAR_008032	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008032	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	116256352,NP_000539
7249	269849475	Disease	p.Glu1783Gln	VAR_008033	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008033	- Tuberous sclerosis complex (TSC) [MIM:191100]	SWISS	No Domain	N/A	116256352,NP_000539
80746	50428914	Disease	p.Tyr309Cys	VAR_054810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054810	- Pontocerebellar hypoplasia type 2B (PCH2B) [MIM:612389]	SWISS	137	COG1676	13376882,NP_079541|223972632,NP_001138864
80746	50428914	Disease	p.Tyr309Cys	VAR_054810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054810	- Pontocerebellar hypoplasia type 2B (PCH2B) [MIM:612389]	SWISS	80	pfam02778	13376882,NP_079541|223972632,NP_001138864
79042	50401668	Disease	p.Arg58Trp	VAR_054811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054811	- Pontocerebellar hypoplasia type 2C (PCH2C) [MIM:612390]	SWISS	No Domain	N/A	116875842,NP_001070914|116875840,NP_076980
283989	296452961	Disease	p.Ser93Pro	VAR_054812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054812	- Pontocerebellar hypoplasia type 4 (PCH4) [MIM:225753]	SWISS	No Domain	N/A	108389176,NP_997229
283989	296452961	Disease	p.Ala307Ser	VAR_054813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054813	- Pontocerebellar hypoplasia type 2A (PCH2A) [MIM:277470]	SWISS	No Domain	N/A	108389176,NP_997229
283989	296452961	Disease	p.Ala307Ser	VAR_054813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054813	- Pontocerebellar hypoplasia type 4 (PCH4) [MIM:225753]	SWISS	No Domain	N/A	108389176,NP_997229
7253	62298994	Disease	p.Cys41Ser	VAR_011519	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011519	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	No Domain	N/A	NULL
7253	62298994	Disease	p.Arg109Gln	VAR_011520	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011520	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	No Domain	N/A	NULL
7253	62298994	Disease	p.Pro162Ala	VAR_011521	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011521	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	No Domain	N/A	NULL
7253	62298994	Disease	p.Ile167Asn	VAR_011522	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011522	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	No Domain	N/A	NULL
7253	62298994	Disease	p.Lys183Arg	VAR_003566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003566	- Hyperthyroidism familial gestational (HTFG) [MIM:603373]	SWISS	No Domain	N/A	NULL
7253	62298994	Disease	p.Leu252Pro	VAR_021495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021495	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	No Domain	N/A	NULL
7253	62298994	Disease	p.Ser281Asn	VAR_003570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003570	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	No Domain	N/A	NULL
7253	62298994	Disease	p.Arg310Cys	VAR_011524	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011524	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	No Domain	N/A	NULL
7253	62298994	Disease	p.Cys390Trp	VAR_011525	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011525	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	No Domain	N/A	NULL
7253	62298994	Disease	p.Asp410Asn	VAR_011526	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011526	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	No Domain	N/A	NULL
7253	62298994	Disease	p.Gly431Ser	VAR_011527	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011527	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	10	pfam10328	NULL
7253	62298994	Disease	p.Arg450His	VAR_011528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011528	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	18	pfam00001	NULL
7253	62298994	Disease	p.Arg450His	VAR_011528	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011528	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	30	pfam10328	NULL
7253	62298994	Disease	p.Met453Thr	VAR_011529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011529	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	21	pfam00001	NULL
7253	62298994	Disease	p.Met453Thr	VAR_011529	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011529	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	33	pfam10328	NULL
7253	62298994	Disease	p.Met463Val	VAR_011530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011530	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	31	pfam00001	NULL
7253	62298994	Disease	p.Met463Val	VAR_011530	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011530	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	43	pfam10328	NULL
7253	62298994	Disease	p.Leu467Pro	VAR_017295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017295	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	35	pfam00001	NULL
7253	62298994	Disease	p.Leu467Pro	VAR_017295	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017295	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	51	pfam10328	NULL
7253	62298994	Disease	p.Thr477Ile	VAR_017296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017296	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	45	pfam00001	NULL
7253	62298994	Disease	p.Thr477Ile	VAR_017296	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017296	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	67	pfam10328	NULL
7253	62298994	Disease	p.Ile486Phe	VAR_011531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011531	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	54	pfam00001	NULL
7253	62298994	Disease	p.Ile486Phe	VAR_011531	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011531	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	78	pfam10328	NULL
7253	62298994	Disease	p.Ile486Met	VAR_011532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011532	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	54	pfam00001	NULL
7253	62298994	Disease	p.Ile486Met	VAR_011532	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011532	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	78	pfam10328	NULL
7253	62298994	Disease	p.Gly498Ser	VAR_011533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011533	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	71	pfam00001	NULL
7253	62298994	Disease	p.Gly498Ser	VAR_011533	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011533	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	80	pfam10328	NULL
7253	62298994	Disease	p.Ser505Asn	VAR_003571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003571	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	78	pfam00001	NULL
7253	62298994	Disease	p.Ser505Asn	VAR_003571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003571	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	87	pfam10328	NULL
7253	62298994	Disease	p.Ser505Arg	VAR_011534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011534	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	78	pfam00001	NULL
7253	62298994	Disease	p.Ser505Arg	VAR_011534	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011534	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	87	pfam10328	NULL
7253	62298994	Disease	p.Val509Ala	VAR_011535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011535	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	82	pfam00001	NULL
7253	62298994	Disease	p.Val509Ala	VAR_011535	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011535	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	93	pfam10328	NULL
7253	62298994	Disease	p.Phe525Leu	VAR_011537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011537	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	98	pfam00001	NULL
7253	62298994	Disease	p.Phe525Leu	VAR_011537	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011537	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	109	pfam10328	NULL
7253	62298994	Disease	p.Ala553Thr	VAR_011538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011538	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	128	pfam00001	NULL
7253	62298994	Disease	p.Ala553Thr	VAR_011538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011538	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	159	pfam10328	NULL
7253	62298994	Disease	p.Ile568Thr	VAR_011539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011539	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	158	pfam00001	NULL
7253	62298994	Disease	p.Ile568Thr	VAR_011539	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011539	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	185	pfam10328	NULL
7253	62298994	Disease	p.Val597Phe	VAR_021499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021499	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	197	pfam00001	NULL
7253	62298994	Disease	p.Val597Phe	VAR_021499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021499	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	224	pfam10328	NULL
7253	62298994	Disease	p.Cys600Arg	VAR_017297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017297	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	200	pfam00001	NULL
7253	62298994	Disease	p.Cys600Arg	VAR_017297	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017297	- Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]	SWISS	227	pfam10328	NULL
7253	62298994	Disease	p.Leu629Phe	VAR_003575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003575	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	371	pfam00001	NULL
7253	62298994	Disease	p.Leu629Phe	VAR_003575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003575	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	261	pfam10328	NULL
7253	62298994	Disease	p.Phe631Leu	VAR_011545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011545	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	373	pfam00001	NULL
7253	62298994	Disease	p.Phe631Leu	VAR_011545	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011545	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	266	pfam10328	NULL
7253	62298994	Disease	p.Thr632Ala	VAR_011546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011546	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	374	pfam00001	NULL
7253	62298994	Disease	p.Thr632Ala	VAR_011546	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011546	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	267	pfam10328	NULL
7253	62298994	Disease	p.Thr632Ile	VAR_011547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011547	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	374	pfam00001	NULL
7253	62298994	Disease	p.Thr632Ile	VAR_011547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011547	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	267	pfam10328	NULL
7253	62298994	Disease	p.Asp633Glu	VAR_011549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011549	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	375	pfam00001	NULL
7253	62298994	Disease	p.Asp633Glu	VAR_011549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011549	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	268	pfam10328	NULL
7253	62298994	Disease	p.Pro639Ser	VAR_011552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011552	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	381	pfam00001	NULL
7253	62298994	Disease	p.Pro639Ser	VAR_011552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011552	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	274	pfam10328	NULL
7253	62298994	Disease	p.Ala647Val	VAR_011553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011553	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	389	pfam00001	NULL
7253	62298994	Disease	p.Ala647Val	VAR_011553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011553	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	283	pfam10328	NULL
7253	62298994	Disease	p.Asn650Tyr	VAR_011554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011554	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	392	pfam00001	NULL
7253	62298994	Disease	p.Asn650Tyr	VAR_011554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011554	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	298	pfam10328	NULL
7253	62298994	Disease	p.Asn670Ser	VAR_011556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011556	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	422	pfam00001	NULL
7253	62298994	Disease	p.Asn670Ser	VAR_011556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011556	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	322_G	pfam10328	NULL
7253	62298994	Disease	p.Cys672Tyr	VAR_011557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011557	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	424	pfam00001	NULL
7253	62298994	Disease	p.Cys672Tyr	VAR_011557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011557	- Hyperthyroidism non-autoimmune (HTNA) [MIM:609152]	SWISS	324	pfam10328	NULL
23554	11135167	Disease	p.Leu101His	VAR_063576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063576	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	174	pfam00335	6912528,NP_036470
23554	11135167	Disease	p.Gly188Arg	VAR_063577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063577	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	433	pfam00335	6912528,NP_036470
23554	11135167	Disease	p.Gly188Arg	VAR_063577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063577	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	89	cd03161	6912528,NP_036470
23554	11135167	Disease	p.Gly188Arg	VAR_063577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063577	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	116	cd03127	6912528,NP_036470
23554	11135167	Disease	p.Gly188Arg	VAR_063577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063577	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	107	cd03156	6912528,NP_036470
23554	11135167	Disease	p.Gly188Arg	VAR_063577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063577	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	73	cd03157	6912528,NP_036470
23554	11135167	Disease	p.Gly188Arg	VAR_063577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063577	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	97	cd03165	6912528,NP_036470
23554	11135167	Disease	p.Gly188Arg	VAR_063577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063577	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	74	cd03166	6912528,NP_036470
23554	11135167	Disease	p.Gly188Arg	VAR_063577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063577	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	99	cd03155	6912528,NP_036470
23554	11135167	Disease	p.Gly188Arg	VAR_063577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063577	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	78	cd03163	6912528,NP_036470
23554	11135167	Disease	p.Gly188Arg	VAR_063577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063577	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	91	cd03160	6912528,NP_036470
23554	11135167	Disease	p.Met210Arg	VAR_063578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063578	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	472	pfam00335	6912528,NP_036470
23554	11135167	Disease	p.Met210Arg	VAR_063578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063578	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	117	cd03161	6912528,NP_036470
23554	11135167	Disease	p.Met210Arg	VAR_063578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063578	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	160	cd03127	6912528,NP_036470
23554	11135167	Disease	p.Met210Arg	VAR_063578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063578	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	150	cd03156	6912528,NP_036470
23554	11135167	Disease	p.Met210Arg	VAR_063578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063578	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	95	cd03157	6912528,NP_036470
23554	11135167	Disease	p.Met210Arg	VAR_063578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063578	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	120	cd03165	6912528,NP_036470
23554	11135167	Disease	p.Met210Arg	VAR_063578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063578	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	95	cd03166	6912528,NP_036470
23554	11135167	Disease	p.Met210Arg	VAR_063578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063578	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	145	cd03155	6912528,NP_036470
23554	11135167	Disease	p.Met210Arg	VAR_063578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063578	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	98	cd03163	6912528,NP_036470
23554	11135167	Disease	p.Met210Arg	VAR_063578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063578	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	152	cd03160	6912528,NP_036470
23554	11135167	Disease	p.Ala237Pro	VAR_063579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063579	- Vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]	SWISS	510	pfam00335	6912528,NP_036470
7102	17380550	Disease	p.Pro172His	VAR_009259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009259	- Mental retardation X-linked type 58 (MRX58) [MIM:300210]	SWISS	69	cd03163	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	VAR_009259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009259	- Mental retardation X-linked type 58 (MRX58) [MIM:300210]	SWISS	71	cd03154	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	VAR_009259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009259	- Mental retardation X-linked type 58 (MRX58) [MIM:300210]	SWISS	98	cd03156	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	VAR_009259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009259	- Mental retardation X-linked type 58 (MRX58) [MIM:300210]	SWISS	345	pfam00335	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	VAR_009259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009259	- Mental retardation X-linked type 58 (MRX58) [MIM:300210]	SWISS	61	cd03164	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	VAR_009259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009259	- Mental retardation X-linked type 58 (MRX58) [MIM:300210]	SWISS	82	cd03160	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	VAR_009259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009259	- Mental retardation X-linked type 58 (MRX58) [MIM:300210]	SWISS	107	cd03127	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	VAR_009259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009259	- Mental retardation X-linked type 58 (MRX58) [MIM:300210]	SWISS	65	cd03166	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	VAR_009259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009259	- Mental retardation X-linked type 58 (MRX58) [MIM:300210]	SWISS	90	cd03155	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	VAR_009259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009259	- Mental retardation X-linked type 58 (MRX58) [MIM:300210]	SWISS	135	cd03162	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	VAR_009259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009259	- Mental retardation X-linked type 58 (MRX58) [MIM:300210]	SWISS	79	cd03161	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	VAR_009259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009259	- Mental retardation X-linked type 58 (MRX58) [MIM:300210]	SWISS	80	cd03158	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	VAR_009259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009259	- Mental retardation X-linked type 58 (MRX58) [MIM:300210]	SWISS	72	cd03165	21265104,NP_004606
7102	17380550	Disease	p.Pro172His	VAR_009259	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009259	- Mental retardation X-linked type 58 (MRX58) [MIM:300210]	SWISS	71	cd03167	21265104,NP_004606
136647	71153365	Disease	p.Met144Val	VAR_022940	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022940	- Trichothiodystrophy non-photosensitive type 1 (TTDN1) [MIM:234050]	SWISS	No Domain	N/A	20162566,NP_619646
7273	108861911	Disease	p.Val54Met	VAR_026685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026685	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	122	smart00409	NULL
7273	108861911	Disease	p.Val54Met	VAR_026685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026685	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	122	smart00410	NULL
7273	108861911	Disease	p.Val54Met	VAR_026685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026685	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	60	cd05748	NULL
7273	108861911	Disease	p.Val54Met	VAR_026685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026685	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	45	cd04969	NULL
7273	108861911	Disease	p.Val54Met	VAR_026685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026685	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	50	cd05747	NULL
7273	108861911	Disease	p.Val54Met	VAR_026685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026685	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	80	smart00408	NULL
7273	108861911	Disease	p.Val54Met	VAR_026685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026685	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	48	cd05737	NULL
7273	108861911	Disease	p.Val54Met	VAR_026685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026685	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	29	cd05760	NULL
7273	108861911	Disease	p.Val54Met	VAR_026685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026685	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	29	cd05744	NULL
7273	108861911	Disease	p.Val54Met	VAR_026685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026685	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	32	cd05892	NULL
7273	108861911	Disease	p.Val54Met	VAR_026685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026685	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	83	cd00096	NULL
7273	108861911	Disease	p.Val54Met	VAR_026685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026685	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	52	cd05724	NULL
7273	108861911	Disease	p.Val54Met	VAR_026685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026685	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	63	pfam07679	NULL
7273	108861911	Disease	p.Val54Met	VAR_026685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026685	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	52	cd05730	NULL
7273	108861911	Disease	p.Arg279Trp	VAR_026634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026634	- Hereditary myopathy with early respiratory failure (HMERF) [MIM:603689]	SWISS	No Domain	N/A	NULL
7273	108861911	Disease	p.Arg740Leu	VAR_026687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026687	rs28933405 Cardiomyopathy familial hypertrophic type 9 (CMH9) [MIM:188840]	SWISS	No Domain	N/A	NULL
7273	108861911	Disease	p.Ala743Val	VAR_026688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026688	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	No Domain	N/A	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	35	cd05737	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	36	pfam07679	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	33	cd05728	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	36	pfam07686	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	18	cd05748	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	18	cd05723	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	31	cd05724	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	37	cd05747	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	36	cd05869	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	35	cd05870	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	36	cd05732	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	22	smart00408	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	21	cd05745	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	18	cd05750	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	17	cd05746	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	17	cd05736	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	17	cd05725	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	17	cd05893	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	17	cd05892	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	17	cd05744	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	31	cd00096	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	17	cd05763	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	17	cd05876	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	17	cd05760	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	35	cd05891	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	25	pfam00047	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	20	cd04969	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	20	cd05765	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	20	cd05764	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	37	cd05730	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	35	cd04968	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	35	cd05851	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	29	cd05894	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	28	cd05856	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	28	cd05729	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	48	smart00409	NULL
7273	108861911	Disease	p.Trp976Arg	VAR_026689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026689	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	48	smart00410	NULL
7273	108861911	Disease	p.Ser3799Tyr	VAR_026690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026690	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	No Domain	N/A	NULL
7273	108861911	Disease	p.Ser4465Asn	VAR_026692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026692	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	66	cd05852	NULL
7273	108861911	Disease	p.Ser4465Asn	VAR_026692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026692	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	67	cd05745	NULL
7273	108861911	Disease	p.Ser4465Asn	VAR_026692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026692	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	80	cd04969	NULL
7273	108861911	Disease	p.Ser4465Asn	VAR_026692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026692	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	78	cd05857	NULL
7273	108861911	Disease	p.Ser4465Asn	VAR_026692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026692	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	86	cd05747	NULL
7273	108861911	Disease	p.Ser4465Asn	VAR_026692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026692	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	233	smart00409	NULL
7273	108861911	Disease	p.Ser4465Asn	VAR_026692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026692	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	233	smart00410	NULL
7273	108861911	Disease	p.Ser4465Asn	VAR_026692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026692	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	106	pfam07679	NULL
7273	108861911	Disease	p.Ser4465Asn	VAR_026692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026692	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	83	cd05762	NULL
7273	108861911	Disease	p.Ser4465Asn	VAR_026692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026692	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	138	pfam07686	NULL
7273	108861911	Disease	p.Ser4465Asn	VAR_026692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026692	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	78	cd05729	NULL
7273	108861911	Disease	p.Ser4465Asn	VAR_026692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026692	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	90	cd05869	NULL
7273	108861911	Disease	p.Ser4465Asn	VAR_026692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026692	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	65	cd05725	NULL
7273	108861911	Disease	p.Ser4465Asn	VAR_026692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026692	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	168	cd00096	NULL
7273	108861911	Disease	p.Ser4465Asn	VAR_026692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026692	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	67	cd05763	NULL
7273	108861911	Disease	p.Ser4465Asn	VAR_026692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026692	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	63	cd05746	NULL
7273	108861911	Disease	p.Ser4465Asn	VAR_026692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026692	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	74	cd05895	NULL
7273	108861911	Disease	p.Ser4465Asn	VAR_026692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026692	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	74	cd05750	NULL
7273	108861911	Disease	p.Arg32996Gln	VAR_026693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026693	- Cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]	SWISS	No Domain	N/A	NULL
7273	108861911	Disease	p.Ile34306Asn	VAR_026694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026694	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	126	smart00409	NULL
7273	108861911	Disease	p.Ile34306Asn	VAR_026694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026694	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	126	smart00410	NULL
7273	108861911	Disease	p.Ile34306Asn	VAR_026694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026694	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	52	cd05747	NULL
7273	108861911	Disease	p.Ile34306Asn	VAR_026694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026694	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	62	cd05748	NULL
7273	108861911	Disease	p.Ile34306Asn	VAR_026694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026694	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	49	cd05762	NULL
7273	108861911	Disease	p.Ile34306Asn	VAR_026694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026694	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	65	pfam07679	NULL
7273	108861911	Disease	p.Ile34306Asn	VAR_026694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026694	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	35	cd05763	NULL
7273	108861911	Disease	p.Ile34306Asn	VAR_026694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026694	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	85	cd00096	NULL
7273	108861911	Disease	p.Ile34306Asn	VAR_026694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026694	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	32	cd05746	NULL
7273	108861911	Disease	p.Ile34306Asn	VAR_026694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026694	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	73	cd05894	NULL
7273	108861911	Disease	p.Ile34306Asn	VAR_026694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026694	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	52	cd05737	NULL
7273	108861911	Disease	p.Ile34306Asn	VAR_026694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026694	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	52	cd05891	NULL
7273	108861911	Disease	p.Ile34306Asn	VAR_026694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026694	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	53	cd04977	NULL
7273	108861911	Disease	p.Ile34306Asn	VAR_026694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026694	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	36	cd04978	NULL
7273	108861911	Disease	p.Ile34306Asn	VAR_026694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026694	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	53	cd05865	NULL
7273	108861911	Disease	p.Ile34306Asn	VAR_026694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026694	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	58	cd05732	NULL
7273	108861911	Disease	p.Ile34306Asn	VAR_026694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026694	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	56	cd05869	NULL
7273	108861911	Disease	p.Ile34306Asn	VAR_026694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026694	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	56	cd05758	NULL
7273	108861911	Disease	p.Ile34306Asn	VAR_026694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026694	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	54	cd05730	NULL
7273	108861911	Disease	p.Leu34315Pro	VAR_026695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026695	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	175	smart00409	NULL
7273	108861911	Disease	p.Leu34315Pro	VAR_026695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026695	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	175	smart00410	NULL
7273	108861911	Disease	p.Leu34315Pro	VAR_026695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026695	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	61	cd05747	NULL
7273	108861911	Disease	p.Leu34315Pro	VAR_026695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026695	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	71	cd05748	NULL
7273	108861911	Disease	p.Leu34315Pro	VAR_026695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026695	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	58	cd05762	NULL
7273	108861911	Disease	p.Leu34315Pro	VAR_026695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026695	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	80	pfam07679	NULL
7273	108861911	Disease	p.Leu34315Pro	VAR_026695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026695	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	42	cd05763	NULL
7273	108861911	Disease	p.Leu34315Pro	VAR_026695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026695	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	94	cd00096	NULL
7273	108861911	Disease	p.Leu34315Pro	VAR_026695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026695	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	38	cd05746	NULL
7273	108861911	Disease	p.Leu34315Pro	VAR_026695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026695	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	82	cd05894	NULL
7273	108861911	Disease	p.Leu34315Pro	VAR_026695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026695	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	60	cd05737	NULL
7273	108861911	Disease	p.Leu34315Pro	VAR_026695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026695	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	60	cd05891	NULL
7273	108861911	Disease	p.Leu34315Pro	VAR_026695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026695	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	62	cd04977	NULL
7273	108861911	Disease	p.Leu34315Pro	VAR_026695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026695	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	45	cd04978	NULL
7273	108861911	Disease	p.Leu34315Pro	VAR_026695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026695	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	62	cd05865	NULL
7273	108861911	Disease	p.Leu34315Pro	VAR_026695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026695	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	67	cd05732	NULL
7273	108861911	Disease	p.Leu34315Pro	VAR_026695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026695	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	65	cd05869	NULL
7273	108861911	Disease	p.Leu34315Pro	VAR_026695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026695	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	76	cd05758	NULL
7273	108861911	Disease	p.Leu34315Pro	VAR_026695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026695	- Tardive tibial muscular dystrophy (TMD) [MIM:600334]	SWISS	63	cd05730	NULL
7274	1351322	Disease	p.Arg59Trp	VAR_022388	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022388	- Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]	SWISS	66	pfam03765	4507723,NP_000361
7274	1351322	Disease	p.His101Gln	VAR_005668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005668	- Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]	SWISS	10	smart00516	4507723,NP_000361
7274	1351322	Disease	p.His101Gln	VAR_005668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005668	- Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]	SWISS	14	cd00170	4507723,NP_000361
7274	1351322	Disease	p.Ala120Thr	VAR_022389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022389	- Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]	SWISS	44	smart00516	4507723,NP_000361
7274	1351322	Disease	p.Ala120Thr	VAR_022389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022389	- Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]	SWISS	34	cd00170	4507723,NP_000361
7274	1351322	Disease	p.Ala120Thr	VAR_022389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022389	- Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]	SWISS	12	pfam00650	4507723,NP_000361
7274	1351322	Disease	p.Glu141Lys	VAR_022390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022390	- Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]	SWISS	100	smart00516	4507723,NP_000361
7274	1351322	Disease	p.Glu141Lys	VAR_022390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022390	- Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]	SWISS	90	cd00170	4507723,NP_000361
7274	1351322	Disease	p.Glu141Lys	VAR_022390	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022390	- Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]	SWISS	52	pfam00650	4507723,NP_000361
7274	1351322	Disease	p.Arg192His	VAR_007858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007858	rs28936369 Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]	SWISS	225	smart00516	4507723,NP_000361
7274	1351322	Disease	p.Arg192His	VAR_007858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007858	rs28936369 Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]	SWISS	160	cd00170	4507723,NP_000361
7274	1351322	Disease	p.Arg192His	VAR_007858	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007858	rs28936369 Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]	SWISS	142	pfam00650	4507723,NP_000361
7274	1351322	Disease	p.Arg221Trp	VAR_022391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022391	rs35916840 Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]	SWISS	262	smart00516	4507723,NP_000361
7274	1351322	Disease	p.Arg221Trp	VAR_022391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022391	rs35916840 Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]	SWISS	192	cd00170	4507723,NP_000361
7274	1351322	Disease	p.Arg221Trp	VAR_022391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022391	rs35916840 Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]	SWISS	174	pfam00650	4507723,NP_000361
7274	1351322	Disease	p.Gly246Arg	VAR_022392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022392	- Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]	SWISS	307	smart00516	4507723,NP_000361
7274	1351322	Disease	p.Gly246Arg	VAR_022392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022392	- Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]	SWISS	251	cd00170	4507723,NP_000361
7274	1351322	Disease	p.Gly246Arg	VAR_022392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022392	- Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]	SWISS	221	pfam00650	4507723,NP_000361
7276	136464	Disease	p.Cys30Arg	VAR_007547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007547	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	4	smart00095	4507725,NP_000362
7276	136464	Disease	p.Cys30Arg	VAR_007547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007547	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	4	COG2351	4507725,NP_000362
7276	136464	Disease	p.Cys30Arg	VAR_007547	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007547	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	7	cd05821	4507725,NP_000362
7276	136464	Disease	p.Leu32Pro	VAR_038959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038959	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	6	smart00095	4507725,NP_000362
7276	136464	Disease	p.Leu32Pro	VAR_038959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038959	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	6	COG2351	4507725,NP_000362
7276	136464	Disease	p.Leu32Pro	VAR_038959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038959	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	3	cd05469	4507725,NP_000362
7276	136464	Disease	p.Leu32Pro	VAR_038959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038959	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	3	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Leu32Pro	VAR_038959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038959	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	9	cd05821	4507725,NP_000362
7276	136464	Disease	p.Asp38Glu	VAR_007548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007548	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	12	smart00095	4507725,NP_000362
7276	136464	Disease	p.Asp38Glu	VAR_007548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007548	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	20	COG2351	4507725,NP_000362
7276	136464	Disease	p.Asp38Glu	VAR_007548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007548	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	9	cd05822	4507725,NP_000362
7276	136464	Disease	p.Asp38Glu	VAR_007548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007548	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	9	cd05469	4507725,NP_000362
7276	136464	Disease	p.Asp38Glu	VAR_007548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007548	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	9	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Asp38Glu	VAR_007548	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007548	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	15	cd05821	4507725,NP_000362
7276	136464	Disease	p.Asp38Gly	VAR_007549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007549	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	12	smart00095	4507725,NP_000362
7276	136464	Disease	p.Asp38Gly	VAR_007549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007549	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	20	COG2351	4507725,NP_000362
7276	136464	Disease	p.Asp38Gly	VAR_007549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007549	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	9	cd05822	4507725,NP_000362
7276	136464	Disease	p.Asp38Gly	VAR_007549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007549	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	9	cd05469	4507725,NP_000362
7276	136464	Disease	p.Asp38Gly	VAR_007549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007549	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	9	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Asp38Gly	VAR_007549	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007549	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	15	cd05821	4507725,NP_000362
7276	136464	Disease	p.Val40Ile	VAR_007550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007550	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	14	smart00095	4507725,NP_000362
7276	136464	Disease	p.Val40Ile	VAR_007550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007550	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	22	COG2351	4507725,NP_000362
7276	136464	Disease	p.Val40Ile	VAR_007550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007550	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	11	cd05822	4507725,NP_000362
7276	136464	Disease	p.Val40Ile	VAR_007550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007550	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	11	cd05469	4507725,NP_000362
7276	136464	Disease	p.Val40Ile	VAR_007550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007550	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	11	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Val40Ile	VAR_007550	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007550	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	17	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ser43Asn	VAR_038961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038961	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	17	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ser43Asn	VAR_038961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038961	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	25	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ser43Asn	VAR_038961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038961	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	14	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ser43Asn	VAR_038961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038961	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	14	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ser43Asn	VAR_038961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038961	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	14	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ser43Asn	VAR_038961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038961	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	20	cd05821	4507725,NP_000362
7276	136464	Disease	p.Pro44Ser	VAR_007551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007551	rs11541790 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	18	smart00095	4507725,NP_000362
7276	136464	Disease	p.Pro44Ser	VAR_007551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007551	rs11541790 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	26	COG2351	4507725,NP_000362
7276	136464	Disease	p.Pro44Ser	VAR_007551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007551	rs11541790 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	15	cd05822	4507725,NP_000362
7276	136464	Disease	p.Pro44Ser	VAR_007551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007551	rs11541790 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	15	cd05469	4507725,NP_000362
7276	136464	Disease	p.Pro44Ser	VAR_007551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007551	rs11541790 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	15	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Pro44Ser	VAR_007551	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007551	rs11541790 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	21	cd05821	4507725,NP_000362
7276	136464	Disease	p.Val48Met	VAR_010658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010658	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	22	smart00095	4507725,NP_000362
7276	136464	Disease	p.Val48Met	VAR_010658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010658	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	30	COG2351	4507725,NP_000362
7276	136464	Disease	p.Val48Met	VAR_010658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010658	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	19	cd05822	4507725,NP_000362
7276	136464	Disease	p.Val48Met	VAR_010658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010658	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	19	cd05469	4507725,NP_000362
7276	136464	Disease	p.Val48Met	VAR_010658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010658	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	19	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Val48Met	VAR_010658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010658	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	25	cd05821	4507725,NP_000362
7276	136464	Disease	p.Val50Ala	VAR_007552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007552	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	24	smart00095	4507725,NP_000362
7276	136464	Disease	p.Val50Ala	VAR_007552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007552	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	32	COG2351	4507725,NP_000362
7276	136464	Disease	p.Val50Ala	VAR_007552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007552	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	21	cd05822	4507725,NP_000362
7276	136464	Disease	p.Val50Ala	VAR_007552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007552	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	21	cd05469	4507725,NP_000362
7276	136464	Disease	p.Val50Ala	VAR_007552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007552	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	21	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Val50Ala	VAR_007552	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007552	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	27	cd05821	4507725,NP_000362
7276	136464	Disease	p.Val50Gly	VAR_038962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038962	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	24	smart00095	4507725,NP_000362
7276	136464	Disease	p.Val50Gly	VAR_038962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038962	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	32	COG2351	4507725,NP_000362
7276	136464	Disease	p.Val50Gly	VAR_038962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038962	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	21	cd05822	4507725,NP_000362
7276	136464	Disease	p.Val50Gly	VAR_038962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038962	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	21	cd05469	4507725,NP_000362
7276	136464	Disease	p.Val50Gly	VAR_038962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038962	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	21	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Val50Gly	VAR_038962	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038962	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	27	cd05821	4507725,NP_000362
7276	136464	Disease	p.Val50Leu	VAR_007553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007553	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	24	smart00095	4507725,NP_000362
7276	136464	Disease	p.Val50Leu	VAR_007553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007553	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	32	COG2351	4507725,NP_000362
7276	136464	Disease	p.Val50Leu	VAR_007553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007553	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	21	cd05822	4507725,NP_000362
7276	136464	Disease	p.Val50Leu	VAR_007553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007553	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	21	cd05469	4507725,NP_000362
7276	136464	Disease	p.Val50Leu	VAR_007553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007553	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	21	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Val50Leu	VAR_007553	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007553	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	27	cd05821	4507725,NP_000362
7276	136464	Disease	p.Val50Met	VAR_007554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007554	rs28933979 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	24	smart00095	4507725,NP_000362
7276	136464	Disease	p.Val50Met	VAR_007554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007554	rs28933979 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	32	COG2351	4507725,NP_000362
7276	136464	Disease	p.Val50Met	VAR_007554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007554	rs28933979 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	21	cd05822	4507725,NP_000362
7276	136464	Disease	p.Val50Met	VAR_007554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007554	rs28933979 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	21	cd05469	4507725,NP_000362
7276	136464	Disease	p.Val50Met	VAR_007554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007554	rs28933979 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	21	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Val50Met	VAR_007554	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007554	rs28933979 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	27	cd05821	4507725,NP_000362
7276	136464	Disease	p.Phe53Ile	VAR_007555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007555	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	27	smart00095	4507725,NP_000362
7276	136464	Disease	p.Phe53Ile	VAR_007555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007555	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	35	COG2351	4507725,NP_000362
7276	136464	Disease	p.Phe53Ile	VAR_007555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007555	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	24	cd05822	4507725,NP_000362
7276	136464	Disease	p.Phe53Ile	VAR_007555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007555	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	24	cd05469	4507725,NP_000362
7276	136464	Disease	p.Phe53Ile	VAR_007555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007555	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	34	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Phe53Ile	VAR_007555	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007555	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	30	cd05821	4507725,NP_000362
7276	136464	Disease	p.Phe53Leu	VAR_007556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007556	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	27	smart00095	4507725,NP_000362
7276	136464	Disease	p.Phe53Leu	VAR_007556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007556	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	35	COG2351	4507725,NP_000362
7276	136464	Disease	p.Phe53Leu	VAR_007556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007556	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	24	cd05822	4507725,NP_000362
7276	136464	Disease	p.Phe53Leu	VAR_007556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007556	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	24	cd05469	4507725,NP_000362
7276	136464	Disease	p.Phe53Leu	VAR_007556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007556	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	34	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Phe53Leu	VAR_007556	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007556	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	30	cd05821	4507725,NP_000362
7276	136464	Disease	p.Phe53Val	VAR_038964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038964	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	27	smart00095	4507725,NP_000362
7276	136464	Disease	p.Phe53Val	VAR_038964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038964	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	35	COG2351	4507725,NP_000362
7276	136464	Disease	p.Phe53Val	VAR_038964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038964	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	24	cd05822	4507725,NP_000362
7276	136464	Disease	p.Phe53Val	VAR_038964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038964	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	24	cd05469	4507725,NP_000362
7276	136464	Disease	p.Phe53Val	VAR_038964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038964	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	34	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Phe53Val	VAR_038964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038964	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	30	cd05821	4507725,NP_000362
7276	136464	Disease	p.Arg54Thr	VAR_038965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038965	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	28	smart00095	4507725,NP_000362
7276	136464	Disease	p.Arg54Thr	VAR_038965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038965	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	36	COG2351	4507725,NP_000362
7276	136464	Disease	p.Arg54Thr	VAR_038965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038965	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	25	cd05822	4507725,NP_000362
7276	136464	Disease	p.Arg54Thr	VAR_038965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038965	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	25	cd05469	4507725,NP_000362
7276	136464	Disease	p.Arg54Thr	VAR_038965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038965	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	35	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Arg54Thr	VAR_038965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038965	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	31	cd05821	4507725,NP_000362
7276	136464	Disease	p.Lys55Asn	VAR_038966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038966	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	29	smart00095	4507725,NP_000362
7276	136464	Disease	p.Lys55Asn	VAR_038966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038966	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	37	COG2351	4507725,NP_000362
7276	136464	Disease	p.Lys55Asn	VAR_038966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038966	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	26	cd05822	4507725,NP_000362
7276	136464	Disease	p.Lys55Asn	VAR_038966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038966	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	26	cd05469	4507725,NP_000362
7276	136464	Disease	p.Lys55Asn	VAR_038966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038966	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	36	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Lys55Asn	VAR_038966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038966	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	32	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ala56Pro	VAR_007557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007557	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	30	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ala56Pro	VAR_007557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007557	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	38	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ala56Pro	VAR_007557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007557	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	27	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ala56Pro	VAR_007557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007557	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	27	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ala56Pro	VAR_007557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007557	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	37	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ala56Pro	VAR_007557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007557	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	33	cd05821	4507725,NP_000362
7276	136464	Disease	p.Asp58Ala	VAR_038967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038967	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	32	smart00095	4507725,NP_000362
7276	136464	Disease	p.Asp58Ala	VAR_038967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038967	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	40	COG2351	4507725,NP_000362
7276	136464	Disease	p.Asp58Ala	VAR_038967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038967	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	29	cd05822	4507725,NP_000362
7276	136464	Disease	p.Asp58Ala	VAR_038967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038967	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	29	cd05469	4507725,NP_000362
7276	136464	Disease	p.Asp58Ala	VAR_038967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038967	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	39	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Asp58Ala	VAR_038967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038967	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	35	cd05821	4507725,NP_000362
7276	136464	Disease	p.Asp58Val	VAR_038968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038968	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	32	smart00095	4507725,NP_000362
7276	136464	Disease	p.Asp58Val	VAR_038968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038968	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	40	COG2351	4507725,NP_000362
7276	136464	Disease	p.Asp58Val	VAR_038968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038968	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	29	cd05822	4507725,NP_000362
7276	136464	Disease	p.Asp58Val	VAR_038968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038968	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	29	cd05469	4507725,NP_000362
7276	136464	Disease	p.Asp58Val	VAR_038968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038968	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	39	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Asp58Val	VAR_038968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038968	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	35	cd05821	4507725,NP_000362
7276	136464	Disease	p.Trp61Leu	VAR_038969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038969	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	35	smart00095	4507725,NP_000362
7276	136464	Disease	p.Trp61Leu	VAR_038969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038969	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	45	COG2351	4507725,NP_000362
7276	136464	Disease	p.Trp61Leu	VAR_038969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038969	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	42	cd05822	4507725,NP_000362
7276	136464	Disease	p.Trp61Leu	VAR_038969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038969	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	33	cd05469	4507725,NP_000362
7276	136464	Disease	p.Trp61Leu	VAR_038969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038969	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	44	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Trp61Leu	VAR_038969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038969	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	38	cd05821	4507725,NP_000362
7276	136464	Disease	p.Glu62Asp	VAR_038970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038970	rs11541796 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	36	smart00095	4507725,NP_000362
7276	136464	Disease	p.Glu62Asp	VAR_038970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038970	rs11541796 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	46	COG2351	4507725,NP_000362
7276	136464	Disease	p.Glu62Asp	VAR_038970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038970	rs11541796 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	43	cd05822	4507725,NP_000362
7276	136464	Disease	p.Glu62Asp	VAR_038970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038970	rs11541796 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	34	cd05469	4507725,NP_000362
7276	136464	Disease	p.Glu62Asp	VAR_038970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038970	rs11541796 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	45	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Glu62Asp	VAR_038970	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038970	rs11541796 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	39	cd05821	4507725,NP_000362
7276	136464	Disease	p.Glu62Gly	VAR_007558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007558	rs11541796 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	36	smart00095	4507725,NP_000362
7276	136464	Disease	p.Glu62Gly	VAR_007558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007558	rs11541796 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	46	COG2351	4507725,NP_000362
7276	136464	Disease	p.Glu62Gly	VAR_007558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007558	rs11541796 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	43	cd05822	4507725,NP_000362
7276	136464	Disease	p.Glu62Gly	VAR_007558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007558	rs11541796 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	34	cd05469	4507725,NP_000362
7276	136464	Disease	p.Glu62Gly	VAR_007558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007558	rs11541796 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	45	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Glu62Gly	VAR_007558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007558	rs11541796 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	39	cd05821	4507725,NP_000362
7276	136464	Disease	p.Phe64Ser	VAR_038971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038971	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	38	smart00095	4507725,NP_000362
7276	136464	Disease	p.Phe64Ser	VAR_038971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038971	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	48	COG2351	4507725,NP_000362
7276	136464	Disease	p.Phe64Ser	VAR_038971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038971	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	45	cd05822	4507725,NP_000362
7276	136464	Disease	p.Phe64Ser	VAR_038971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038971	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	36	cd05469	4507725,NP_000362
7276	136464	Disease	p.Phe64Ser	VAR_038971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038971	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	47	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Phe64Ser	VAR_038971	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038971	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	41	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ala65Asp	VAR_007559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007559	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	39	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ala65Asp	VAR_007559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007559	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	49	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ala65Asp	VAR_007559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007559	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	46	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ala65Asp	VAR_007559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007559	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	37	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ala65Asp	VAR_007559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007559	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	48	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ala65Asp	VAR_007559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007559	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	42	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ala65Ser	VAR_038972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038972	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	39	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ala65Ser	VAR_038972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038972	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	49	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ala65Ser	VAR_038972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038972	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	46	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ala65Ser	VAR_038972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038972	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	37	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ala65Ser	VAR_038972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038972	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	48	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ala65Ser	VAR_038972	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038972	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	42	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ala65Thr	VAR_007560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007560	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	39	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ala65Thr	VAR_007560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007560	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	49	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ala65Thr	VAR_007560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007560	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	46	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ala65Thr	VAR_007560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007560	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	37	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ala65Thr	VAR_007560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007560	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	48	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ala65Thr	VAR_007560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007560	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	42	cd05821	4507725,NP_000362
7276	136464	Disease	p.Gly67Ala	VAR_007561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007561	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	41	smart00095	4507725,NP_000362
7276	136464	Disease	p.Gly67Ala	VAR_007561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007561	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	51	COG2351	4507725,NP_000362
7276	136464	Disease	p.Gly67Ala	VAR_007561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007561	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	48	cd05822	4507725,NP_000362
7276	136464	Disease	p.Gly67Ala	VAR_007561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007561	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	39	cd05469	4507725,NP_000362
7276	136464	Disease	p.Gly67Ala	VAR_007561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007561	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	50	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Gly67Ala	VAR_007561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007561	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	44	cd05821	4507725,NP_000362
7276	136464	Disease	p.Gly67Glu	VAR_038973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038973	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	41	smart00095	4507725,NP_000362
7276	136464	Disease	p.Gly67Glu	VAR_038973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038973	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	51	COG2351	4507725,NP_000362
7276	136464	Disease	p.Gly67Glu	VAR_038973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038973	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	48	cd05822	4507725,NP_000362
7276	136464	Disease	p.Gly67Glu	VAR_038973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038973	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	39	cd05469	4507725,NP_000362
7276	136464	Disease	p.Gly67Glu	VAR_038973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038973	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	50	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Gly67Glu	VAR_038973	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038973	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	44	cd05821	4507725,NP_000362
7276	136464	Disease	p.Gly67Arg	VAR_007562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007562	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	41	smart00095	4507725,NP_000362
7276	136464	Disease	p.Gly67Arg	VAR_007562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007562	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	51	COG2351	4507725,NP_000362
7276	136464	Disease	p.Gly67Arg	VAR_007562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007562	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	48	cd05822	4507725,NP_000362
7276	136464	Disease	p.Gly67Arg	VAR_007562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007562	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	39	cd05469	4507725,NP_000362
7276	136464	Disease	p.Gly67Arg	VAR_007562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007562	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	50	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Gly67Arg	VAR_007562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007562	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	44	cd05821	4507725,NP_000362
7276	136464	Disease	p.Gly67Val	VAR_007563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007563	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	41	smart00095	4507725,NP_000362
7276	136464	Disease	p.Gly67Val	VAR_007563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007563	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	51	COG2351	4507725,NP_000362
7276	136464	Disease	p.Gly67Val	VAR_007563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007563	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	48	cd05822	4507725,NP_000362
7276	136464	Disease	p.Gly67Val	VAR_007563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007563	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	39	cd05469	4507725,NP_000362
7276	136464	Disease	p.Gly67Val	VAR_007563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007563	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	50	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Gly67Val	VAR_007563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007563	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	44	cd05821	4507725,NP_000362
7276	136464	Disease	p.Thr69Ala	VAR_007564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007564	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	43	smart00095	4507725,NP_000362
7276	136464	Disease	p.Thr69Ala	VAR_007564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007564	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	53	COG2351	4507725,NP_000362
7276	136464	Disease	p.Thr69Ala	VAR_007564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007564	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	50	cd05822	4507725,NP_000362
7276	136464	Disease	p.Thr69Ala	VAR_007564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007564	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	41	cd05469	4507725,NP_000362
7276	136464	Disease	p.Thr69Ala	VAR_007564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007564	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	52	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Thr69Ala	VAR_007564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007564	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	46	cd05821	4507725,NP_000362
7276	136464	Disease	p.Thr69Ile	VAR_038974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038974	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	43	smart00095	4507725,NP_000362
7276	136464	Disease	p.Thr69Ile	VAR_038974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038974	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	53	COG2351	4507725,NP_000362
7276	136464	Disease	p.Thr69Ile	VAR_038974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038974	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	50	cd05822	4507725,NP_000362
7276	136464	Disease	p.Thr69Ile	VAR_038974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038974	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	41	cd05469	4507725,NP_000362
7276	136464	Disease	p.Thr69Ile	VAR_038974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038974	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	52	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Thr69Ile	VAR_038974	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038974	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	46	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ser70Ile	VAR_007565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007565	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	44	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ser70Ile	VAR_007565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007565	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	54	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ser70Ile	VAR_007565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007565	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	51	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ser70Ile	VAR_007565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007565	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	42	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ser70Ile	VAR_007565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007565	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	53	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ser70Ile	VAR_007565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007565	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	47	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ser70Arg	VAR_007566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007566	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	44	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ser70Arg	VAR_007566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007566	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	54	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ser70Arg	VAR_007566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007566	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	51	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ser70Arg	VAR_007566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007566	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	42	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ser70Arg	VAR_007566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007566	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	53	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ser70Arg	VAR_007566	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007566	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	47	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ser72Pro	VAR_007567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007567	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	46	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ser72Pro	VAR_007567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007567	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	56	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ser72Pro	VAR_007567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007567	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	53	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ser72Pro	VAR_007567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007567	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	44	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ser72Pro	VAR_007567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007567	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	55	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ser72Pro	VAR_007567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007567	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	49	cd05821	4507725,NP_000362
7276	136464	Disease	p.Gly73Glu	VAR_038975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038975	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	47	smart00095	4507725,NP_000362
7276	136464	Disease	p.Gly73Glu	VAR_038975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038975	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	57	COG2351	4507725,NP_000362
7276	136464	Disease	p.Gly73Glu	VAR_038975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038975	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	54	cd05822	4507725,NP_000362
7276	136464	Disease	p.Gly73Glu	VAR_038975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038975	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	45	cd05469	4507725,NP_000362
7276	136464	Disease	p.Gly73Glu	VAR_038975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038975	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	56	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Gly73Glu	VAR_038975	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038975	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	50	cd05821	4507725,NP_000362
7276	136464	Disease	p.Glu74Gly	VAR_007568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007568	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	48	smart00095	4507725,NP_000362
7276	136464	Disease	p.Glu74Gly	VAR_007568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007568	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	58	COG2351	4507725,NP_000362
7276	136464	Disease	p.Glu74Gly	VAR_007568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007568	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	55	cd05822	4507725,NP_000362
7276	136464	Disease	p.Glu74Gly	VAR_007568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007568	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	46	cd05469	4507725,NP_000362
7276	136464	Disease	p.Glu74Gly	VAR_007568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007568	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	57	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Glu74Gly	VAR_007568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007568	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	51	cd05821	4507725,NP_000362
7276	136464	Disease	p.Glu74Lys	VAR_038976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038976	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	48	smart00095	4507725,NP_000362
7276	136464	Disease	p.Glu74Lys	VAR_038976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038976	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	58	COG2351	4507725,NP_000362
7276	136464	Disease	p.Glu74Lys	VAR_038976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038976	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	55	cd05822	4507725,NP_000362
7276	136464	Disease	p.Glu74Lys	VAR_038976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038976	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	46	cd05469	4507725,NP_000362
7276	136464	Disease	p.Glu74Lys	VAR_038976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038976	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	57	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Glu74Lys	VAR_038976	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038976	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	51	cd05821	4507725,NP_000362
7276	136464	Disease	p.Leu75Pro	VAR_007569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007569	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	49	smart00095	4507725,NP_000362
7276	136464	Disease	p.Leu75Pro	VAR_007569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007569	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	59	COG2351	4507725,NP_000362
7276	136464	Disease	p.Leu75Pro	VAR_007569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007569	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	56	cd05822	4507725,NP_000362
7276	136464	Disease	p.Leu75Pro	VAR_007569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007569	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	47	cd05469	4507725,NP_000362
7276	136464	Disease	p.Leu75Pro	VAR_007569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007569	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	58	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Leu75Pro	VAR_007569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007569	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	52	cd05821	4507725,NP_000362
7276	136464	Disease	p.Leu75Gln	VAR_038977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038977	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	49	smart00095	4507725,NP_000362
7276	136464	Disease	p.Leu75Gln	VAR_038977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038977	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	59	COG2351	4507725,NP_000362
7276	136464	Disease	p.Leu75Gln	VAR_038977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038977	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	56	cd05822	4507725,NP_000362
7276	136464	Disease	p.Leu75Gln	VAR_038977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038977	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	47	cd05469	4507725,NP_000362
7276	136464	Disease	p.Leu75Gln	VAR_038977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038977	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	58	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Leu75Gln	VAR_038977	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038977	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	52	cd05821	4507725,NP_000362
7276	136464	Disease	p.Leu78His	VAR_007570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007570	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	52	smart00095	4507725,NP_000362
7276	136464	Disease	p.Leu78His	VAR_007570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007570	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	65	COG2351	4507725,NP_000362
7276	136464	Disease	p.Leu78His	VAR_007570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007570	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	59	cd05822	4507725,NP_000362
7276	136464	Disease	p.Leu78His	VAR_007570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007570	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	50	cd05469	4507725,NP_000362
7276	136464	Disease	p.Leu78His	VAR_007570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007570	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	63	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Leu78His	VAR_007570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007570	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	55	cd05821	4507725,NP_000362
7276	136464	Disease	p.Leu78Arg	VAR_007571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007571	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	52	smart00095	4507725,NP_000362
7276	136464	Disease	p.Leu78Arg	VAR_007571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007571	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	65	COG2351	4507725,NP_000362
7276	136464	Disease	p.Leu78Arg	VAR_007571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007571	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	59	cd05822	4507725,NP_000362
7276	136464	Disease	p.Leu78Arg	VAR_007571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007571	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	50	cd05469	4507725,NP_000362
7276	136464	Disease	p.Leu78Arg	VAR_007571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007571	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	63	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Leu78Arg	VAR_007571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007571	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	55	cd05821	4507725,NP_000362
7276	136464	Disease	p.Thr79Lys	VAR_007572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007572	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	53	smart00095	4507725,NP_000362
7276	136464	Disease	p.Thr79Lys	VAR_007572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007572	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	66	COG2351	4507725,NP_000362
7276	136464	Disease	p.Thr79Lys	VAR_007572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007572	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	60	cd05822	4507725,NP_000362
7276	136464	Disease	p.Thr79Lys	VAR_007572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007572	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	51	cd05469	4507725,NP_000362
7276	136464	Disease	p.Thr79Lys	VAR_007572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007572	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	64	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Thr79Lys	VAR_007572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007572	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	56	cd05821	4507725,NP_000362
7276	136464	Disease	p.Thr80Ala	VAR_007573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007573	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	54	smart00095	4507725,NP_000362
7276	136464	Disease	p.Thr80Ala	VAR_007573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007573	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	67	COG2351	4507725,NP_000362
7276	136464	Disease	p.Thr80Ala	VAR_007573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007573	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	61	cd05822	4507725,NP_000362
7276	136464	Disease	p.Thr80Ala	VAR_007573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007573	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	52	cd05469	4507725,NP_000362
7276	136464	Disease	p.Thr80Ala	VAR_007573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007573	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	65	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Thr80Ala	VAR_007573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007573	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	57	cd05821	4507725,NP_000362
7276	136464	Disease	p.Glu81Gly	VAR_038978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038978	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	55	smart00095	4507725,NP_000362
7276	136464	Disease	p.Glu81Gly	VAR_038978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038978	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	68	COG2351	4507725,NP_000362
7276	136464	Disease	p.Glu81Gly	VAR_038978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038978	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	62	cd05822	4507725,NP_000362
7276	136464	Disease	p.Glu81Gly	VAR_038978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038978	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	54	cd05469	4507725,NP_000362
7276	136464	Disease	p.Glu81Gly	VAR_038978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038978	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	66	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Glu81Gly	VAR_038978	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038978	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	58	cd05821	4507725,NP_000362
7276	136464	Disease	p.Glu81Lys	VAR_007574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007574	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	55	smart00095	4507725,NP_000362
7276	136464	Disease	p.Glu81Lys	VAR_007574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007574	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	68	COG2351	4507725,NP_000362
7276	136464	Disease	p.Glu81Lys	VAR_007574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007574	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	62	cd05822	4507725,NP_000362
7276	136464	Disease	p.Glu81Lys	VAR_007574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007574	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	54	cd05469	4507725,NP_000362
7276	136464	Disease	p.Glu81Lys	VAR_007574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007574	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	66	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Glu81Lys	VAR_007574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007574	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	58	cd05821	4507725,NP_000362
7276	136464	Disease	p.Phe84Leu	VAR_007575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007575	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	58	smart00095	4507725,NP_000362
7276	136464	Disease	p.Phe84Leu	VAR_007575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007575	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	71	COG2351	4507725,NP_000362
7276	136464	Disease	p.Phe84Leu	VAR_007575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007575	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	89	cd05822	4507725,NP_000362
7276	136464	Disease	p.Phe84Leu	VAR_007575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007575	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	57	cd05469	4507725,NP_000362
7276	136464	Disease	p.Phe84Leu	VAR_007575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007575	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	69	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Phe84Leu	VAR_007575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007575	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	61	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ile88Leu	VAR_007576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007576	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	62	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ile88Leu	VAR_007576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007576	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	75	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ile88Leu	VAR_007576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007576	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	93	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ile88Leu	VAR_007576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007576	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	61	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ile88Leu	VAR_007576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007576	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	73	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ile88Leu	VAR_007576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007576	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	65	cd05821	4507725,NP_000362
7276	136464	Disease	p.Tyr89His	VAR_007577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007577	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	63	smart00095	4507725,NP_000362
7276	136464	Disease	p.Tyr89His	VAR_007577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007577	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	76	COG2351	4507725,NP_000362
7276	136464	Disease	p.Tyr89His	VAR_007577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007577	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	94	cd05822	4507725,NP_000362
7276	136464	Disease	p.Tyr89His	VAR_007577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007577	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	62	cd05469	4507725,NP_000362
7276	136464	Disease	p.Tyr89His	VAR_007577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007577	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	74	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Tyr89His	VAR_007577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007577	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	66	cd05821	4507725,NP_000362
7276	136464	Disease	p.Lys90Asn	VAR_007578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007578	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	64	smart00095	4507725,NP_000362
7276	136464	Disease	p.Lys90Asn	VAR_007578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007578	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	77	COG2351	4507725,NP_000362
7276	136464	Disease	p.Lys90Asn	VAR_007578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007578	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	95	cd05822	4507725,NP_000362
7276	136464	Disease	p.Lys90Asn	VAR_007578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007578	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	63	cd05469	4507725,NP_000362
7276	136464	Disease	p.Lys90Asn	VAR_007578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007578	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	75	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Lys90Asn	VAR_007578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007578	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	67	cd05821	4507725,NP_000362
7276	136464	Disease	p.Val91Ala	VAR_007579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007579	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	65	smart00095	4507725,NP_000362
7276	136464	Disease	p.Val91Ala	VAR_007579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007579	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	78	COG2351	4507725,NP_000362
7276	136464	Disease	p.Val91Ala	VAR_007579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007579	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	96	cd05822	4507725,NP_000362
7276	136464	Disease	p.Val91Ala	VAR_007579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007579	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	64	cd05469	4507725,NP_000362
7276	136464	Disease	p.Val91Ala	VAR_007579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007579	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	76	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Val91Ala	VAR_007579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007579	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	68	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ile93Val	VAR_007580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007580	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	67	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ile93Val	VAR_007580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007580	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	80	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ile93Val	VAR_007580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007580	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	98	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ile93Val	VAR_007580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007580	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	66	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ile93Val	VAR_007580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007580	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	78	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ile93Val	VAR_007580	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007580	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	70	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ser97Tyr	VAR_007582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007582	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	71	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ser97Tyr	VAR_007582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007582	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	84	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ser97Tyr	VAR_007582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007582	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	102	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ser97Tyr	VAR_007582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007582	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	70	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ser97Tyr	VAR_007582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007582	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	82	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ser97Tyr	VAR_007582	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007582	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	74	cd05821	4507725,NP_000362
7276	136464	Disease	p.Tyr98Phe	VAR_038979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038979	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	72	smart00095	4507725,NP_000362
7276	136464	Disease	p.Tyr98Phe	VAR_038979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038979	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	85	COG2351	4507725,NP_000362
7276	136464	Disease	p.Tyr98Phe	VAR_038979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038979	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	103	cd05822	4507725,NP_000362
7276	136464	Disease	p.Tyr98Phe	VAR_038979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038979	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	71	cd05469	4507725,NP_000362
7276	136464	Disease	p.Tyr98Phe	VAR_038979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038979	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	83	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Tyr98Phe	VAR_038979	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038979	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	75	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ile104Asn	VAR_007583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007583	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	78	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ile104Asn	VAR_007583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007583	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	95	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ile104Asn	VAR_007583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007583	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	121	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ile104Asn	VAR_007583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007583	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	81	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ile104Asn	VAR_007583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007583	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	89	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ile104Asn	VAR_007583	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007583	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	81	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ile104Ser	VAR_007584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007584	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	78	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ile104Ser	VAR_007584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007584	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	95	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ile104Ser	VAR_007584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007584	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	121	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ile104Ser	VAR_007584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007584	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	81	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ile104Ser	VAR_007584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007584	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	89	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ile104Ser	VAR_007584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007584	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	81	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ile104Thr	VAR_038980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038980	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	78	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ile104Thr	VAR_038980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038980	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	95	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ile104Thr	VAR_038980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038980	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	121	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ile104Thr	VAR_038980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038980	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	81	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ile104Thr	VAR_038980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038980	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	89	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ile104Thr	VAR_038980	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038980	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	81	cd05821	4507725,NP_000362
7276	136464	Disease	p.Glu109Lys	VAR_010659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010659	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	83	smart00095	4507725,NP_000362
7276	136464	Disease	p.Glu109Lys	VAR_010659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010659	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	100	COG2351	4507725,NP_000362
7276	136464	Disease	p.Glu109Lys	VAR_010659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010659	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	126	cd05822	4507725,NP_000362
7276	136464	Disease	p.Glu109Lys	VAR_010659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010659	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	86	cd05469	4507725,NP_000362
7276	136464	Disease	p.Glu109Lys	VAR_010659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010659	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	110	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Glu109Lys	VAR_010659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010659	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	86	cd05821	4507725,NP_000362
7276	136464	Disease	p.Glu109Gln	VAR_007585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007585	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	83	smart00095	4507725,NP_000362
7276	136464	Disease	p.Glu109Gln	VAR_007585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007585	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	100	COG2351	4507725,NP_000362
7276	136464	Disease	p.Glu109Gln	VAR_007585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007585	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	126	cd05822	4507725,NP_000362
7276	136464	Disease	p.Glu109Gln	VAR_007585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007585	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	86	cd05469	4507725,NP_000362
7276	136464	Disease	p.Glu109Gln	VAR_007585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007585	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	110	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Glu109Gln	VAR_007585	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007585	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	86	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ala111Ser	VAR_007587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007587	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	85	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ala111Ser	VAR_007587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007587	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	102	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ala111Ser	VAR_007587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007587	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	128	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ala111Ser	VAR_007587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007587	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	88	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ala111Ser	VAR_007587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007587	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	112	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ala111Ser	VAR_007587	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007587	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	88	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ala117Gly	VAR_007588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007588	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	91	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ala117Gly	VAR_007588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007588	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	108	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ala117Gly	VAR_007588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007588	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	134	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ala117Gly	VAR_007588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007588	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	94	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ala117Gly	VAR_007588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007588	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	118	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ala117Gly	VAR_007588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007588	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	94	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ala117Ser	VAR_038982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038982	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	91	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ala117Ser	VAR_038982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038982	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	108	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ala117Ser	VAR_038982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038982	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	134	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ala117Ser	VAR_038982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038982	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	94	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ala117Ser	VAR_038982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038982	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	118	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ala117Ser	VAR_038982	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038982	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	94	cd05821	4507725,NP_000362
7276	136464	Disease	p.Thr126Asn	VAR_038984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038984	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	100	smart00095	4507725,NP_000362
7276	136464	Disease	p.Thr126Asn	VAR_038984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038984	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	116	COG2351	4507725,NP_000362
7276	136464	Disease	p.Thr126Asn	VAR_038984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038984	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	149	cd05822	4507725,NP_000362
7276	136464	Disease	p.Thr126Asn	VAR_038984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038984	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	103	cd05469	4507725,NP_000362
7276	136464	Disease	p.Thr126Asn	VAR_038984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038984	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	128	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Thr126Asn	VAR_038984	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038984	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	103	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ile127Met	VAR_038985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038985	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	101	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ile127Met	VAR_038985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038985	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	117	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ile127Met	VAR_038985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038985	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	150	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ile127Met	VAR_038985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038985	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	104	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ile127Met	VAR_038985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038985	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	129	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ile127Met	VAR_038985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038985	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	104	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ile127Val	VAR_007592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007592	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	101	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ile127Val	VAR_007592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007592	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	117	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ile127Val	VAR_007592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007592	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	150	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ile127Val	VAR_007592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007592	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	104	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ile127Val	VAR_007592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007592	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	129	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ile127Val	VAR_007592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007592	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	104	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ala129Thr	VAR_007593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007593	- Hyperthyroxinemia dystransthyretinemic euthyroidal (HTDE) [MIM:145680]	SWISS	103	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ala129Thr	VAR_007593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007593	- Hyperthyroxinemia dystransthyretinemic euthyroidal (HTDE) [MIM:145680]	SWISS	119	COG2351	4507725,NP_000362
7276	136464	Disease	p.Ala129Thr	VAR_007593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007593	- Hyperthyroxinemia dystransthyretinemic euthyroidal (HTDE) [MIM:145680]	SWISS	152	cd05822	4507725,NP_000362
7276	136464	Disease	p.Ala129Thr	VAR_007593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007593	- Hyperthyroxinemia dystransthyretinemic euthyroidal (HTDE) [MIM:145680]	SWISS	106	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ala129Thr	VAR_007593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007593	- Hyperthyroxinemia dystransthyretinemic euthyroidal (HTDE) [MIM:145680]	SWISS	131	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ala129Thr	VAR_007593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007593	- Hyperthyroxinemia dystransthyretinemic euthyroidal (HTDE) [MIM:145680]	SWISS	106	cd05821	4507725,NP_000362
7276	136464	Disease	p.Leu131Met	VAR_007594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007594	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	105	smart00095	4507725,NP_000362
7276	136464	Disease	p.Leu131Met	VAR_007594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007594	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	121	COG2351	4507725,NP_000362
7276	136464	Disease	p.Leu131Met	VAR_007594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007594	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	154	cd05822	4507725,NP_000362
7276	136464	Disease	p.Leu131Met	VAR_007594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007594	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	108	cd05469	4507725,NP_000362
7276	136464	Disease	p.Leu131Met	VAR_007594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007594	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	133	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Leu131Met	VAR_007594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007594	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	108	cd05821	4507725,NP_000362
7276	136464	Disease	p.Tyr134Cys	VAR_007595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007595	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	108	smart00095	4507725,NP_000362
7276	136464	Disease	p.Tyr134Cys	VAR_007595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007595	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	124	COG2351	4507725,NP_000362
7276	136464	Disease	p.Tyr134Cys	VAR_007595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007595	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	157	cd05822	4507725,NP_000362
7276	136464	Disease	p.Tyr134Cys	VAR_007595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007595	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	111	cd05469	4507725,NP_000362
7276	136464	Disease	p.Tyr134Cys	VAR_007595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007595	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	136	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Tyr134Cys	VAR_007595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007595	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	111	cd05821	4507725,NP_000362
7276	136464	Disease	p.Tyr134His	VAR_007598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007598	- Carpal tunnel syndrome (CTS) [MIM:115430]	SWISS	108	smart00095	4507725,NP_000362
7276	136464	Disease	p.Tyr134His	VAR_007598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007598	- Carpal tunnel syndrome (CTS) [MIM:115430]	SWISS	124	COG2351	4507725,NP_000362
7276	136464	Disease	p.Tyr134His	VAR_007598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007598	- Carpal tunnel syndrome (CTS) [MIM:115430]	SWISS	157	cd05822	4507725,NP_000362
7276	136464	Disease	p.Tyr134His	VAR_007598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007598	- Carpal tunnel syndrome (CTS) [MIM:115430]	SWISS	111	cd05469	4507725,NP_000362
7276	136464	Disease	p.Tyr134His	VAR_007598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007598	- Carpal tunnel syndrome (CTS) [MIM:115430]	SWISS	136	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Tyr134His	VAR_007598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007598	- Carpal tunnel syndrome (CTS) [MIM:115430]	SWISS	111	cd05821	4507725,NP_000362
7276	136464	Disease	p.Tyr136Ser	VAR_007596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007596	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	110	smart00095	4507725,NP_000362
7276	136464	Disease	p.Tyr136Ser	VAR_007596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007596	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	126	COG2351	4507725,NP_000362
7276	136464	Disease	p.Tyr136Ser	VAR_007596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007596	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	159	cd05822	4507725,NP_000362
7276	136464	Disease	p.Tyr136Ser	VAR_007596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007596	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	113	cd05469	4507725,NP_000362
7276	136464	Disease	p.Tyr136Ser	VAR_007596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007596	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	138	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Tyr136Ser	VAR_007596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007596	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	113	cd05821	4507725,NP_000362
7276	136464	Disease	p.Ala140Ser	VAR_038986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038986	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	114	smart00095	4507725,NP_000362
7276	136464	Disease	p.Ala140Ser	VAR_038986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038986	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	117	cd05469	4507725,NP_000362
7276	136464	Disease	p.Ala140Ser	VAR_038986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038986	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	142	pfam00576	4507725,NP_000362
7276	136464	Disease	p.Ala140Ser	VAR_038986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038986	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	117	cd05821	4507725,NP_000362
7276	136464	Disease	p.Val142Ala	VAR_038987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038987	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	116	smart00095	4507725,NP_000362
7276	136464	Disease	p.Val142Ala	VAR_038987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038987	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	119	cd05821	4507725,NP_000362
7276	136464	Disease	p.Val142Ile	VAR_007600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007600	rs28933980 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	116	smart00095	4507725,NP_000362
7276	136464	Disease	p.Val142Ile	VAR_007600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007600	rs28933980 Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	119	cd05821	4507725,NP_000362
7276	136464	Disease	p.Asn144Ser	VAR_038988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038988	- Amyloidosis type 1 (AMYL1) [MIM:105210]	SWISS	118	smart00095	4507725,NP_000362
7846	55977864	Disease	p.Ile188Leu	VAR_039332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039332	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	303	pfam00091	17986283,NP_006000
7846	55977864	Disease	p.Ile188Leu	VAR_039332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039332	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	195	COG5023	17986283,NP_006000
7846	55977864	Disease	p.Ile188Leu	VAR_039332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039332	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	295	smart00864	17986283,NP_006000
7846	55977864	Disease	p.Ile188Leu	VAR_039332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039332	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	486	cd02189	17986283,NP_006000
7846	55977864	Disease	p.Ile188Leu	VAR_039332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039332	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	319	cd06059	17986283,NP_006000
7846	55977864	Disease	p.Ile188Leu	VAR_039332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039332	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	279	cd00286	17986283,NP_006000
7846	55977864	Disease	p.Ile188Leu	VAR_039332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039332	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	193	cd02187	17986283,NP_006000
7846	55977864	Disease	p.Ile188Leu	VAR_039332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039332	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	220	cd02188	17986283,NP_006000
7846	55977864	Disease	p.Ile188Leu	VAR_039332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039332	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	208	cd02190	17986283,NP_006000
7846	55977864	Disease	p.Ile188Leu	VAR_039332	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039332	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	199	cd02186	17986283,NP_006000
7846	55977864	Disease	p.Pro263Thr	VAR_039333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039333	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	270	COG5023	17986283,NP_006000
7846	55977864	Disease	p.Pro263Thr	VAR_039333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039333	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	664	cd02189	17986283,NP_006000
7846	55977864	Disease	p.Pro263Thr	VAR_039333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039333	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	526	cd06059	17986283,NP_006000
7846	55977864	Disease	p.Pro263Thr	VAR_039333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039333	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	391	cd00286	17986283,NP_006000
7846	55977864	Disease	p.Pro263Thr	VAR_039333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039333	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	16	smart00865	17986283,NP_006000
7846	55977864	Disease	p.Pro263Thr	VAR_039333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039333	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	269	cd02187	17986283,NP_006000
7846	55977864	Disease	p.Pro263Thr	VAR_039333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039333	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	312	cd02188	17986283,NP_006000
7846	55977864	Disease	p.Pro263Thr	VAR_039333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039333	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	319	cd02190	17986283,NP_006000
7846	55977864	Disease	p.Pro263Thr	VAR_039333	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039333	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	274	cd02186	17986283,NP_006000
7846	55977864	Disease	p.Arg264Cys	VAR_039334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039334	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	271	COG5023	17986283,NP_006000
7846	55977864	Disease	p.Arg264Cys	VAR_039334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039334	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	665	cd02189	17986283,NP_006000
7846	55977864	Disease	p.Arg264Cys	VAR_039334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039334	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	527	cd06059	17986283,NP_006000
7846	55977864	Disease	p.Arg264Cys	VAR_039334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039334	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	392	cd00286	17986283,NP_006000
7846	55977864	Disease	p.Arg264Cys	VAR_039334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039334	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	17	smart00865	17986283,NP_006000
7846	55977864	Disease	p.Arg264Cys	VAR_039334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039334	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	2	pfam03953	17986283,NP_006000
7846	55977864	Disease	p.Arg264Cys	VAR_039334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039334	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	270	cd02187	17986283,NP_006000
7846	55977864	Disease	p.Arg264Cys	VAR_039334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039334	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	313	cd02188	17986283,NP_006000
7846	55977864	Disease	p.Arg264Cys	VAR_039334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039334	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	320	cd02190	17986283,NP_006000
7846	55977864	Disease	p.Arg264Cys	VAR_039334	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039334	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	275	cd02186	17986283,NP_006000
7846	55977864	Disease	p.Leu286Phe	VAR_039335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039335	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	296	COG5023	17986283,NP_006000
7846	55977864	Disease	p.Leu286Phe	VAR_039335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039335	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	697	cd02189	17986283,NP_006000
7846	55977864	Disease	p.Leu286Phe	VAR_039335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039335	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	553	cd06059	17986283,NP_006000
7846	55977864	Disease	p.Leu286Phe	VAR_039335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039335	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	435	cd00286	17986283,NP_006000
7846	55977864	Disease	p.Leu286Phe	VAR_039335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039335	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	56	smart00865	17986283,NP_006000
7846	55977864	Disease	p.Leu286Phe	VAR_039335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039335	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	29	pfam03953	17986283,NP_006000
7846	55977864	Disease	p.Leu286Phe	VAR_039335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039335	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	292	cd02187	17986283,NP_006000
7846	55977864	Disease	p.Leu286Phe	VAR_039335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039335	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	361	cd02188	17986283,NP_006000
7846	55977864	Disease	p.Leu286Phe	VAR_039335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039335	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	345	cd02190	17986283,NP_006000
7846	55977864	Disease	p.Leu286Phe	VAR_039335	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039335	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	297	cd02186	17986283,NP_006000
7846	55977864	Disease	p.Arg402Cys	VAR_039336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039336	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	413	COG5023	17986283,NP_006000
7846	55977864	Disease	p.Arg402Cys	VAR_039336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039336	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	934	cd02189	17986283,NP_006000
7846	55977864	Disease	p.Arg402Cys	VAR_039336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039336	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	714	cd06059	17986283,NP_006000
7846	55977864	Disease	p.Arg402Cys	VAR_039336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039336	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	402	cd02187	17986283,NP_006000
7846	55977864	Disease	p.Arg402Cys	VAR_039336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039336	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	481	cd02188	17986283,NP_006000
7846	55977864	Disease	p.Arg402Cys	VAR_039336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039336	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	462	cd02190	17986283,NP_006000
7846	55977864	Disease	p.Arg402Cys	VAR_039336	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039336	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	418	cd02186	17986283,NP_006000
7846	55977864	Disease	p.Arg402His	VAR_039337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039337	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	413	COG5023	17986283,NP_006000
7846	55977864	Disease	p.Arg402His	VAR_039337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039337	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	934	cd02189	17986283,NP_006000
7846	55977864	Disease	p.Arg402His	VAR_039337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039337	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	714	cd06059	17986283,NP_006000
7846	55977864	Disease	p.Arg402His	VAR_039337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039337	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	402	cd02187	17986283,NP_006000
7846	55977864	Disease	p.Arg402His	VAR_039337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039337	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	481	cd02188	17986283,NP_006000
7846	55977864	Disease	p.Arg402His	VAR_039337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039337	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	462	cd02190	17986283,NP_006000
7846	55977864	Disease	p.Arg402His	VAR_039337	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039337	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	418	cd02186	17986283,NP_006000
7846	55977864	Disease	p.Ser419Leu	VAR_039338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039338	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	436	COG5023	17986283,NP_006000
7846	55977864	Disease	p.Ser419Leu	VAR_039338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039338	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	951	cd02189	17986283,NP_006000
7846	55977864	Disease	p.Ser419Leu	VAR_039338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039338	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	735	cd06059	17986283,NP_006000
7846	55977864	Disease	p.Ser419Leu	VAR_039338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039338	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	420	cd02187	17986283,NP_006000
7846	55977864	Disease	p.Ser419Leu	VAR_039338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039338	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	512	cd02188	17986283,NP_006000
7846	55977864	Disease	p.Ser419Leu	VAR_039338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039338	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	480	cd02190	17986283,NP_006000
7846	55977864	Disease	p.Ser419Leu	VAR_039338	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_039338	- Lissencephaly type 3 (LIS3) [MIM:611603]	SWISS	435	cd02186	17986283,NP_006000
81027	62903515	Disease	p.Arg318Trp	VAR_063411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063411	- Macrothrombocytopenia autosomal dominant TUBB1-related (MAD-TUBB1) [MIM:613112]	SWISS	127	smart00865	13562114,NP_110400
81027	62903515	Disease	p.Arg318Trp	VAR_063411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063411	- Macrothrombocytopenia autosomal dominant TUBB1-related (MAD-TUBB1) [MIM:613112]	SWISS	331	COG5023	13562114,NP_110400
81027	62903515	Disease	p.Arg318Trp	VAR_063411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063411	- Macrothrombocytopenia autosomal dominant TUBB1-related (MAD-TUBB1) [MIM:613112]	SWISS	75	pfam03953	13562114,NP_110400
81027	62903515	Disease	p.Arg318Trp	VAR_063411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063411	- Macrothrombocytopenia autosomal dominant TUBB1-related (MAD-TUBB1) [MIM:613112]	SWISS	492	cd00286	13562114,NP_110400
81027	62903515	Disease	p.Arg318Trp	VAR_063411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063411	- Macrothrombocytopenia autosomal dominant TUBB1-related (MAD-TUBB1) [MIM:613112]	SWISS	841	cd02189	13562114,NP_110400
81027	62903515	Disease	p.Arg318Trp	VAR_063411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063411	- Macrothrombocytopenia autosomal dominant TUBB1-related (MAD-TUBB1) [MIM:613112]	SWISS	610	cd06059	13562114,NP_110400
81027	62903515	Disease	p.Arg318Trp	VAR_063411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063411	- Macrothrombocytopenia autosomal dominant TUBB1-related (MAD-TUBB1) [MIM:613112]	SWISS	326	cd02187	13562114,NP_110400
81027	62903515	Disease	p.Arg318Trp	VAR_063411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063411	- Macrothrombocytopenia autosomal dominant TUBB1-related (MAD-TUBB1) [MIM:613112]	SWISS	332	cd02186	13562114,NP_110400
81027	62903515	Disease	p.Arg318Trp	VAR_063411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063411	- Macrothrombocytopenia autosomal dominant TUBB1-related (MAD-TUBB1) [MIM:613112]	SWISS	387	cd02190	13562114,NP_110400
81027	62903515	Disease	p.Arg318Trp	VAR_063411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063411	- Macrothrombocytopenia autosomal dominant TUBB1-related (MAD-TUBB1) [MIM:613112]	SWISS	400	cd02188	13562114,NP_110400
347733	74761283	Disease	p.Ser172Pro	VAR_063389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063389	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	285	pfam00091	29788768,NP_821080
347733	74761283	Disease	p.Ser172Pro	VAR_063389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063389	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	180	COG5023	29788768,NP_821080
347733	74761283	Disease	p.Ser172Pro	VAR_063389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063389	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	277	smart00864	29788768,NP_821080
347733	74761283	Disease	p.Ser172Pro	VAR_063389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063389	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	261	cd00286	29788768,NP_821080
347733	74761283	Disease	p.Ser172Pro	VAR_063389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063389	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	473	cd02189	29788768,NP_821080
347733	74761283	Disease	p.Ser172Pro	VAR_063389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063389	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	301	cd06059	29788768,NP_821080
347733	74761283	Disease	p.Ser172Pro	VAR_063389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063389	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	179	cd02187	29788768,NP_821080
347733	74761283	Disease	p.Ser172Pro	VAR_063389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063389	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	184	cd02190	29788768,NP_821080
347733	74761283	Disease	p.Ser172Pro	VAR_063389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063389	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	185	cd02186	29788768,NP_821080
347733	74761283	Disease	p.Ser172Pro	VAR_063389	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063389	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	203	cd02188	29788768,NP_821080
347733	74761283	Disease	p.Ile210Thr	VAR_063391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063391	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	336	pfam00091	29788768,NP_821080
347733	74761283	Disease	p.Ile210Thr	VAR_063391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063391	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	219	COG5023	29788768,NP_821080
347733	74761283	Disease	p.Ile210Thr	VAR_063391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063391	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	319	smart00864	29788768,NP_821080
347733	74761283	Disease	p.Ile210Thr	VAR_063391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063391	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	303	cd00286	29788768,NP_821080
347733	74761283	Disease	p.Ile210Thr	VAR_063391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063391	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	510	cd02189	29788768,NP_821080
347733	74761283	Disease	p.Ile210Thr	VAR_063391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063391	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	344	cd06059	29788768,NP_821080
347733	74761283	Disease	p.Ile210Thr	VAR_063391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063391	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	217	cd02187	29788768,NP_821080
347733	74761283	Disease	p.Ile210Thr	VAR_063391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063391	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	232	cd02190	29788768,NP_821080
347733	74761283	Disease	p.Ile210Thr	VAR_063391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063391	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	223	cd02186	29788768,NP_821080
347733	74761283	Disease	p.Ile210Thr	VAR_063391	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063391	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	244	cd02188	29788768,NP_821080
347733	74761283	Disease	p.Leu228Pro	VAR_063392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063392	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	237	COG5023	29788768,NP_821080
347733	74761283	Disease	p.Leu228Pro	VAR_063392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063392	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	365	smart00864	29788768,NP_821080
347733	74761283	Disease	p.Leu228Pro	VAR_063392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063392	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	347	cd00286	29788768,NP_821080
347733	74761283	Disease	p.Leu228Pro	VAR_063392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063392	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	537	cd02189	29788768,NP_821080
347733	74761283	Disease	p.Leu228Pro	VAR_063392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063392	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	388	cd06059	29788768,NP_821080
347733	74761283	Disease	p.Leu228Pro	VAR_063392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063392	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	236	cd02187	29788768,NP_821080
347733	74761283	Disease	p.Leu228Pro	VAR_063392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063392	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	286	cd02190	29788768,NP_821080
347733	74761283	Disease	p.Leu228Pro	VAR_063392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063392	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	241	cd02186	29788768,NP_821080
347733	74761283	Disease	p.Leu228Pro	VAR_063392	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063392	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	269	cd02188	29788768,NP_821080
347733	74761283	Disease	p.Phe265Leu	VAR_063393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063393	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	21	smart00865	29788768,NP_821080
347733	74761283	Disease	p.Phe265Leu	VAR_063393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063393	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	274	COG5023	29788768,NP_821080
347733	74761283	Disease	p.Phe265Leu	VAR_063393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063393	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	5	pfam03953	29788768,NP_821080
347733	74761283	Disease	p.Phe265Leu	VAR_063393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063393	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	395	cd00286	29788768,NP_821080
347733	74761283	Disease	p.Phe265Leu	VAR_063393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063393	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	672	cd02189	29788768,NP_821080
347733	74761283	Disease	p.Phe265Leu	VAR_063393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063393	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	530	cd06059	29788768,NP_821080
347733	74761283	Disease	p.Phe265Leu	VAR_063393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063393	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	273	cd02187	29788768,NP_821080
347733	74761283	Disease	p.Phe265Leu	VAR_063393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063393	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	323	cd02190	29788768,NP_821080
347733	74761283	Disease	p.Phe265Leu	VAR_063393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063393	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	278	cd02186	29788768,NP_821080
347733	74761283	Disease	p.Phe265Leu	VAR_063393	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063393	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	316	cd02188	29788768,NP_821080
347733	74761283	Disease	p.Thr312Met	VAR_063394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063394	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	104	smart00865	29788768,NP_821080
347733	74761283	Disease	p.Thr312Met	VAR_063394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063394	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	325	COG5023	29788768,NP_821080
347733	74761283	Disease	p.Thr312Met	VAR_063394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063394	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	68	pfam03953	29788768,NP_821080
347733	74761283	Disease	p.Thr312Met	VAR_063394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063394	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	486	cd00286	29788768,NP_821080
347733	74761283	Disease	p.Thr312Met	VAR_063394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063394	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	835	cd02189	29788768,NP_821080
347733	74761283	Disease	p.Thr312Met	VAR_063394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063394	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	604	cd06059	29788768,NP_821080
347733	74761283	Disease	p.Thr312Met	VAR_063394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063394	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	320	cd02187	29788768,NP_821080
347733	74761283	Disease	p.Thr312Met	VAR_063394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063394	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	381	cd02190	29788768,NP_821080
347733	74761283	Disease	p.Thr312Met	VAR_063394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063394	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	326	cd02186	29788768,NP_821080
347733	74761283	Disease	p.Thr312Met	VAR_063394	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063394	- Polymicrogyria asymmetric (PMGA) [MIM:610031]	SWISS	394	cd02188	29788768,NP_821080
10381	20455526	Disease	p.Arg62Gln	VAR_062758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062758	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	89	pfam00091	50592996,NP_006077
10381	20455526	Disease	p.Arg62Gln	VAR_062758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062758	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	68	COG5023	50592996,NP_006077
10381	20455526	Disease	p.Arg62Gln	VAR_062758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062758	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	23	smart00864	50592996,NP_006077
10381	20455526	Disease	p.Arg62Gln	VAR_062758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062758	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	145	cd00286	50592996,NP_006077
10381	20455526	Disease	p.Arg62Gln	VAR_062758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062758	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	145	cd06059	50592996,NP_006077
10381	20455526	Disease	p.Arg62Gln	VAR_062758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062758	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	102	cd02189	50592996,NP_006077
10381	20455526	Disease	p.Arg62Gln	VAR_062758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062758	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	69	cd02187	50592996,NP_006077
10381	20455526	Disease	p.Arg62Gln	VAR_062758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062758	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	72	cd02190	50592996,NP_006077
10381	20455526	Disease	p.Arg62Gln	VAR_062758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062758	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	74	cd02186	50592996,NP_006077
10381	20455526	Disease	p.Arg62Gln	VAR_062758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062758	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	90	cd02188	50592996,NP_006077
10381	20455526	Disease	p.Arg262Cys	VAR_062759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062759	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	17	smart00865	50592996,NP_006077
10381	20455526	Disease	p.Arg262Cys	VAR_062759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062759	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	271	COG5023	50592996,NP_006077
10381	20455526	Disease	p.Arg262Cys	VAR_062759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062759	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	2	pfam03953	50592996,NP_006077
10381	20455526	Disease	p.Arg262Cys	VAR_062759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062759	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	392	cd00286	50592996,NP_006077
10381	20455526	Disease	p.Arg262Cys	VAR_062759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062759	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	527	cd06059	50592996,NP_006077
10381	20455526	Disease	p.Arg262Cys	VAR_062759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062759	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	665	cd02189	50592996,NP_006077
10381	20455526	Disease	p.Arg262Cys	VAR_062759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062759	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	270	cd02187	50592996,NP_006077
10381	20455526	Disease	p.Arg262Cys	VAR_062759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062759	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	320	cd02190	50592996,NP_006077
10381	20455526	Disease	p.Arg262Cys	VAR_062759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062759	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	275	cd02186	50592996,NP_006077
10381	20455526	Disease	p.Arg262Cys	VAR_062759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062759	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	313	cd02188	50592996,NP_006077
10381	20455526	Disease	p.Arg262His	VAR_062760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062760	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	17	smart00865	50592996,NP_006077
10381	20455526	Disease	p.Arg262His	VAR_062760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062760	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	271	COG5023	50592996,NP_006077
10381	20455526	Disease	p.Arg262His	VAR_062760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062760	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	2	pfam03953	50592996,NP_006077
10381	20455526	Disease	p.Arg262His	VAR_062760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062760	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	392	cd00286	50592996,NP_006077
10381	20455526	Disease	p.Arg262His	VAR_062760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062760	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	527	cd06059	50592996,NP_006077
10381	20455526	Disease	p.Arg262His	VAR_062760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062760	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	665	cd02189	50592996,NP_006077
10381	20455526	Disease	p.Arg262His	VAR_062760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062760	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	270	cd02187	50592996,NP_006077
10381	20455526	Disease	p.Arg262His	VAR_062760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062760	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	320	cd02190	50592996,NP_006077
10381	20455526	Disease	p.Arg262His	VAR_062760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062760	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	275	cd02186	50592996,NP_006077
10381	20455526	Disease	p.Arg262His	VAR_062760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062760	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	313	cd02188	50592996,NP_006077
10381	20455526	Disease	p.Ala302Thr	VAR_062761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062761	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	76	smart00865	50592996,NP_006077
10381	20455526	Disease	p.Ala302Thr	VAR_062761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062761	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	314	COG5023	50592996,NP_006077
10381	20455526	Disease	p.Ala302Thr	VAR_062761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062761	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	50	pfam03953	50592996,NP_006077
10381	20455526	Disease	p.Ala302Thr	VAR_062761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062761	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	453	cd00286	50592996,NP_006077
10381	20455526	Disease	p.Ala302Thr	VAR_062761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062761	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	571	cd06059	50592996,NP_006077
10381	20455526	Disease	p.Ala302Thr	VAR_062761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062761	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	714	cd02189	50592996,NP_006077
10381	20455526	Disease	p.Ala302Thr	VAR_062761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062761	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	310	cd02187	50592996,NP_006077
10381	20455526	Disease	p.Ala302Thr	VAR_062761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062761	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	363	cd02190	50592996,NP_006077
10381	20455526	Disease	p.Ala302Thr	VAR_062761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062761	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	315	cd02186	50592996,NP_006077
10381	20455526	Disease	p.Ala302Thr	VAR_062761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062761	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	379	cd02188	50592996,NP_006077
10381	20455526	Disease	p.Arg380Cys	VAR_062762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062762	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	226	smart00865	50592996,NP_006077
10381	20455526	Disease	p.Arg380Cys	VAR_062762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062762	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	401	COG5023	50592996,NP_006077
10381	20455526	Disease	p.Arg380Cys	VAR_062762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062762	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	147	pfam03953	50592996,NP_006077
10381	20455526	Disease	p.Arg380Cys	VAR_062762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062762	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	702	cd06059	50592996,NP_006077
10381	20455526	Disease	p.Arg380Cys	VAR_062762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062762	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	922	cd02189	50592996,NP_006077
10381	20455526	Disease	p.Arg380Cys	VAR_062762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062762	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	390	cd02187	50592996,NP_006077
10381	20455526	Disease	p.Arg380Cys	VAR_062762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062762	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	450	cd02190	50592996,NP_006077
10381	20455526	Disease	p.Arg380Cys	VAR_062762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062762	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	406	cd02186	50592996,NP_006077
10381	20455526	Disease	p.Arg380Cys	VAR_062762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062762	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	469	cd02188	50592996,NP_006077
10381	20455526	Disease	p.Glu410Lys	VAR_062763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062763	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	437	COG5023	50592996,NP_006077
10381	20455526	Disease	p.Glu410Lys	VAR_062763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062763	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	736	cd06059	50592996,NP_006077
10381	20455526	Disease	p.Glu410Lys	VAR_062763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062763	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	952	cd02189	50592996,NP_006077
10381	20455526	Disease	p.Glu410Lys	VAR_062763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062763	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	421	cd02187	50592996,NP_006077
10381	20455526	Disease	p.Glu410Lys	VAR_062763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062763	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	481	cd02190	50592996,NP_006077
10381	20455526	Disease	p.Glu410Lys	VAR_062763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062763	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	436	cd02186	50592996,NP_006077
10381	20455526	Disease	p.Glu410Lys	VAR_062763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062763	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	513	cd02188	50592996,NP_006077
10381	20455526	Disease	p.Asp417His	VAR_062764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062764	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	444	COG5023	50592996,NP_006077
10381	20455526	Disease	p.Asp417His	VAR_062764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062764	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	743	cd06059	50592996,NP_006077
10381	20455526	Disease	p.Asp417His	VAR_062764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062764	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	959	cd02189	50592996,NP_006077
10381	20455526	Disease	p.Asp417His	VAR_062764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062764	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	428	cd02187	50592996,NP_006077
10381	20455526	Disease	p.Asp417His	VAR_062764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062764	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	488	cd02190	50592996,NP_006077
10381	20455526	Disease	p.Asp417His	VAR_062764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062764	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	443	cd02186	50592996,NP_006077
10381	20455526	Disease	p.Asp417His	VAR_062764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062764	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	520	cd02188	50592996,NP_006077
10381	20455526	Disease	p.Asp417Asn	VAR_062765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062765	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	444	COG5023	50592996,NP_006077
10381	20455526	Disease	p.Asp417Asn	VAR_062765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062765	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	743	cd06059	50592996,NP_006077
10381	20455526	Disease	p.Asp417Asn	VAR_062765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062765	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	959	cd02189	50592996,NP_006077
10381	20455526	Disease	p.Asp417Asn	VAR_062765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062765	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	428	cd02187	50592996,NP_006077
10381	20455526	Disease	p.Asp417Asn	VAR_062765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062765	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	488	cd02190	50592996,NP_006077
10381	20455526	Disease	p.Asp417Asn	VAR_062765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062765	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	443	cd02186	50592996,NP_006077
10381	20455526	Disease	p.Asp417Asn	VAR_062765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062765	- Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]	SWISS	520	cd02188	50592996,NP_006077
7284	1706611	Disease	p.Arg336Gln	VAR_031902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031902	- Combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678]	SWISS	374	COG1217	NULL
7284	1706611	Disease	p.Arg336Gln	VAR_031902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031902	- Combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678]	SWISS	449	COG5258	NULL
7284	1706611	Disease	p.Arg336Gln	VAR_031902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031902	- Combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678]	SWISS	307	COG0050	NULL
7284	1706611	Disease	p.Arg336Gln	VAR_031902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031902	- Combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678]	SWISS	93	cd03698	NULL
7284	1706611	Disease	p.Arg336Gln	VAR_031902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031902	- Combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678]	SWISS	105	pfam03144	NULL
7284	1706611	Disease	p.Arg336Gln	VAR_031902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031902	- Combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678]	SWISS	382	COG5256	NULL
7284	1706611	Disease	p.Arg336Gln	VAR_031902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031902	- Combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678]	SWISS	271	COG3276	NULL
7284	1706611	Disease	p.Arg336Gln	VAR_031902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031902	- Combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678]	SWISS	88	cd03697	NULL
7284	1706611	Disease	p.Arg336Gln	VAR_031902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031902	- Combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678]	SWISS	91	cd03694	NULL
7284	1706611	Disease	p.Arg336Gln	VAR_031902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031902	- Combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678]	SWISS	160	cd01342	NULL
7284	1706611	Disease	p.Arg336Gln	VAR_031902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031902	- Combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678]	SWISS	110	cd03695	NULL
7284	1706611	Disease	p.Arg336Gln	VAR_031902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031902	- Combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678]	SWISS	86	cd03696	NULL
7284	1706611	Disease	p.Arg336Gln	VAR_031902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031902	- Combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678]	SWISS	340	COG5257	NULL
7284	1706611	Disease	p.Arg336Gln	VAR_031902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031902	- Combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678]	SWISS	317	COG2895	NULL
7284	1706611	Disease	p.Arg336Gln	VAR_031902	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_031902	- Combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678]	SWISS	95	cd03693	NULL
7287	206729948	Disease	p.Ala245Val	VAR_008275	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008275	- Retinitis pigmentosa type 14 (RP14) [MIM:600132]	SWISS	No Domain	N/A	157266334,NP_003313
7287	206729948	Disease	p.Ile259Thr	VAR_008276	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008276	rs2064317 Retinitis pigmentosa type 14 (RP14) [MIM:600132]	SWISS	No Domain	N/A	157266334,NP_003313
7287	206729948	Disease	p.Lys261Thr	VAR_008277	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008277	- Retinitis pigmentosa type 14 (RP14) [MIM:600132]	SWISS	No Domain	N/A	157266334,NP_003313
7287	206729948	Disease	p.Arg378His	VAR_008278	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008278	- Retinitis pigmentosa type 14 (RP14) [MIM:600132]	SWISS	86	pfam01167	157266334,NP_003313
7287	206729948	Disease	p.Phe382Ser	VAR_037584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037584	- Retinitis pigmentosa type 14 (RP14) [MIM:600132]	SWISS	90	pfam01167	157266334,NP_003313
7287	206729948	Disease	p.Arg420Pro	VAR_007941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007941	- Retinitis pigmentosa type 14 (RP14) [MIM:600132]	SWISS	146	pfam01167	157266334,NP_003313
7287	206729948	Disease	p.Thr454Met	VAR_008279	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008279	- Retinitis pigmentosa type 14 (RP14) [MIM:600132]	SWISS	229	pfam01167	157266334,NP_003313
7287	206729948	Disease	p.Ile459Lys	VAR_007942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007942	- Retinitis pigmentosa type 14 (RP14) [MIM:600132]	SWISS	234	pfam01167	157266334,NP_003313
7287	206729948	Disease	p.Lys489Arg	VAR_008280	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008280	- Retinitis pigmentosa type 14 (RP14) [MIM:600132]	SWISS	264	pfam01167	157266334,NP_003313
7287	206729948	Disease	p.Phe491Leu	VAR_007943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007943	- Retinitis pigmentosa type 14 (RP14) [MIM:600132]	SWISS	266	pfam01167	157266334,NP_003313
7287	206729948	Disease	p.Ala496Thr	VAR_008281	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008281	- Retinitis pigmentosa type 14 (RP14) [MIM:600132]	SWISS	271	pfam01167	157266334,NP_003313
7291	2498009	Disease	p.Gln119Pro	VAR_004495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004495	- Saethre-Chotzen syndrome (SCS) [MIM:101400]	SWISS	11	pfam00010	4507741,NP_000465
7291	2498009	Disease	p.Gln119Pro	VAR_004495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004495	- Saethre-Chotzen syndrome (SCS) [MIM:101400]	SWISS	14	cd00083	4507741,NP_000465
7291	2498009	Disease	p.Gln119Pro	VAR_004495	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004495	- Saethre-Chotzen syndrome (SCS) [MIM:101400]	SWISS	9	smart00353	4507741,NP_000465
7291	2498009	Disease	p.Leu131Pro	VAR_004496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004496	- Saethre-Chotzen syndrome (SCS) [MIM:101400]	SWISS	24	pfam00010	4507741,NP_000465
7291	2498009	Disease	p.Leu131Pro	VAR_004496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004496	- Saethre-Chotzen syndrome (SCS) [MIM:101400]	SWISS	26	cd00083	4507741,NP_000465
7291	2498009	Disease	p.Leu131Pro	VAR_004496	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004496	- Saethre-Chotzen syndrome (SCS) [MIM:101400]	SWISS	22	smart00353	4507741,NP_000465
7291	2498009	Disease	p.Ile156Val	VAR_015219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015219	- Saethre-Chotzen syndrome (SCS) [MIM:101400]	SWISS	89	pfam00010	4507741,NP_000465
7291	2498009	Disease	p.Ile156Val	VAR_015219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015219	- Saethre-Chotzen syndrome (SCS) [MIM:101400]	SWISS	85	cd00083	4507741,NP_000465
7291	2498009	Disease	p.Ile156Val	VAR_015219	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015219	- Saethre-Chotzen syndrome (SCS) [MIM:101400]	SWISS	123	smart00353	4507741,NP_000465
7291	2498009	Disease	p.Ala186Thr	VAR_034985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034985	- Craniosynostosis type 1 (CRS1) [MIM:123100]	SWISS	No Domain	N/A	4507741,NP_000465
7291	2498009	Disease	p.Ser188Leu	VAR_034986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034986	- Craniosynostosis type 1 (CRS1) [MIM:123100]	SWISS	No Domain	N/A	4507741,NP_000465
1890	67477361	Disease	p.Arg44Gln	VAR_016777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016777	- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [MIM:603041]	SWISS	11	pfam02885	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Arg44Gln	VAR_016777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016777	- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [MIM:603041]	SWISS	12	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Arg44Gln	VAR_016777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016777	- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [MIM:603041]	SWISS	12	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly145Arg	VAR_007643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007643	- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [MIM:603041]	SWISS	42	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly145Arg	VAR_007643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007643	- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [MIM:603041]	SWISS	142	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly145Arg	VAR_007643	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007643	- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [MIM:603041]	SWISS	115	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly153Ser	VAR_007644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007644	- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [MIM:603041]	SWISS	50	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly153Ser	VAR_007644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007644	- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [MIM:603041]	SWISS	150	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Gly153Ser	VAR_007644	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007644	- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [MIM:603041]	SWISS	123	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Lys222Arg	VAR_007645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007645	- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [MIM:603041]	SWISS	119	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Lys222Arg	VAR_007645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007645	- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [MIM:603041]	SWISS	238	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Lys222Arg	VAR_007645	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007645	- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [MIM:603041]	SWISS	192	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Glu289Ala	VAR_007646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007646	- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [MIM:603041]	SWISS	196	pfam00591	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Glu289Ala	VAR_007646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007646	- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [MIM:603041]	SWISS	330	COG0547	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
1890	67477361	Disease	p.Glu289Ala	VAR_007646	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007646	- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [MIM:603041]	SWISS	259	COG0213	166158922,NP_001107227|4503445,NP_001944|166158925,NP_001107228
7299	401235	Disease	p.His19Gln	VAR_007649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007649	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Pro21Ser	VAR_007650	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007650	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Cys36Tyr	VAR_021683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021683	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Asp42Gly	VAR_007651	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007651	rs28940878 Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Ser44Gly	VAR_021684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021684	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Ser44Arg	VAR_021685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021685	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Gly47Asp	VAR_007652	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007652	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Gly47Val	VAR_021686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021686	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Cys55Tyr	VAR_007654	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007654	rs28940879 Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Gln68His	VAR_021687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021687	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Arg77Gln	VAR_007655	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007655	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Arg77Trp	VAR_007656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007656	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Ser79Leu	VAR_021688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021688	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Trp80Arg	VAR_007657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007657	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Pro81Leu	VAR_007658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007658	rs28940876 Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Cys89Arg	VAR_007659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007659	rs28940877 Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Gly97Arg	VAR_007660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007660	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Gly109Arg	VAR_021689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021689	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Pro152Ser	VAR_007925	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007925	- Albinism oculocutaneous type 1B (OCA1B) [MIM:606952]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Thr155Ser	VAR_021690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021690	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Phe176Ile	VAR_007661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007661	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	7	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Val177Phe	VAR_021691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021691	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	8	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Met179Leu	VAR_021692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021692	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	10	pfam00264	4507753,NP_000363
7299	401235	Disease	p.His180Asn	VAR_021693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021693	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	11	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Asp199Asn	VAR_021694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021694	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	89	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Ala201Ser	VAR_021695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021695	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	92	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Pro205Thr	VAR_021696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021696	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	98	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Ala206Thr	VAR_007663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007663	rs28940880 Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	103	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Leu216Met	VAR_007664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007664	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	113	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Arg217Gly	VAR_007665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007665	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	114	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Arg217Gln	VAR_007667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007667	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	114	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Arg217Ser	VAR_021697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021697	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	114	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Arg217Trp	VAR_007666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007666	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	114	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Trp236Leu	VAR_021699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021699	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	201	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Trp236Ser	VAR_021700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021700	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	201	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Arg239Trp	VAR_021701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021701	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	255	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Asp240Val	VAR_021702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021702	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	291	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Lys243Thr	VAR_021703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021703	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	297	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Gly253Arg	VAR_007668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007668	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	314	pfam00264	4507753,NP_000363
7299	401235	Disease	p.His256Tyr	VAR_021704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021704	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	358	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Trp272Cys	VAR_021705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021705	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	374	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Val275Phe	VAR_007669	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007669	- Albinism oculocutaneous type 1B (OCA1B) [MIM:606952]	SWISS	377	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Leu288Ser	VAR_007927	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007927	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	441	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Cys289Gly	VAR_009237	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009237	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	442	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Cys289Arg	VAR_007670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007670	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	442	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Glu294Gly	VAR_021706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021706	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	447	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Glu294Lys	VAR_007928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007928	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	447	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Glu294Lys	VAR_007928	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007928	- Albinism oculocutaneous type 1B (OCA1B) [MIM:606952]	SWISS	447	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Arg299His	VAR_007671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007671	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	452	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Arg299Ser	VAR_007672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007672	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	452	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Val318Glu	VAR_021707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021707	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	675	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Thr325Ala	VAR_007675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007675	- Albinism oculocutaneous type 1B (OCA1B) [MIM:606952]	SWISS	682	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Glu328Gln	VAR_007929	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007929	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	720	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Ser329Pro	VAR_021708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021708	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	721	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Met332Thr	VAR_021709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021709	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	724	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Ser339Gly	VAR_007676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007676	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	731	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Glu345Gly	VAR_021710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021710	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	742	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Gly346Glu	VAR_007930	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007930	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	743	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Ala355Glu	VAR_007931	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007931	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	771	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Ala355Pro	VAR_007678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007678	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	771	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Ser361Arg	VAR_007932	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007932	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	777	pfam00264	4507753,NP_000363
7299	401235	Disease	p.His367Tyr	VAR_007933	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007933	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	783	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Met370Thr	VAR_007934	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007934	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	788	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Asn371Thr	VAR_007679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007679	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	789	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Asn371Tyr	VAR_007935	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007935	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	789	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Thr373Lys	VAR_007680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007680	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	846	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Gln378Lys	VAR_021711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021711	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	870	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Ser380Pro	VAR_007681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007681	- Albinism oculocutaneous type 1B (OCA1B) [MIM:606952]	SWISS	872	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Asn382Lys	VAR_007682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007682	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	874	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Asp383Asn	VAR_007683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007683	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	875	pfam00264	4507753,NP_000363
7299	401235	Disease	p.His390Asp	VAR_007684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007684	- Albinism oculocutaneous type 1B (OCA1B) [MIM:606952]	SWISS	882	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Val393Phe	VAR_007936	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007936	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	885	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Ser395Asn	VAR_007685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007685	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	887	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Ser395Arg	VAR_021712	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021712	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	887	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Glu398Ala	VAR_021713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021713	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	890	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Glu398Val	VAR_021714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021714	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	890	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Trp400Leu	VAR_009238	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009238	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	892	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Arg402Gly	VAR_007937	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007937	- Albinism oculocutaneous type 1B (OCA1B) [MIM:606952]	SWISS	894	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Arg402Leu	VAR_021715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021715	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	894	pfam00264	4507753,NP_000363
7299	401235	Disease	p.Arg403Ser	VAR_007687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007687	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Arg403Ser	VAR_007687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007687	- Albinism oculocutaneous type 1B (OCA1B) [MIM:606952]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.His404Asn	VAR_021716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021716	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Arg405Leu	VAR_021717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021717	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Pro406Leu	VAR_007689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007689	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Pro406Leu	VAR_007689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007689	- Albinism oculocutaneous type 1B (OCA1B) [MIM:606952]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Gln408His	VAR_021718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021718	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Glu409Asp	VAR_021719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021719	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Ala416Ser	VAR_021720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021720	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Pro417His	VAR_021721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021721	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Gly419Arg	VAR_007690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007690	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Arg422Gln	VAR_007691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007691	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Arg422Gln	VAR_007691	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007691	- Albinism oculocutaneous type 1B (OCA1B) [MIM:606952]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Ser424Phe	VAR_021722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021722	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Met426Lys	VAR_021723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021723	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Val427Gly	VAR_021724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021724	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Pro431Leu	VAR_007938	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007938	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Arg434Ile	VAR_021725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021725	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Asn435Asp	VAR_021726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021726	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Phe439Val	VAR_021727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021727	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Asp444Gly	VAR_021728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021728	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Gly446Ser	VAR_007692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007692	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7299	401235	Disease	p.Asp448Asn	VAR_007693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007693	- Albinism oculocutaneous type 1A (OCA1A) [MIM:203100]	SWISS	No Domain	N/A	4507753,NP_000363
7306	12644141	Disease	p.Arg356Gln	VAR_026828	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026828	- Albinism oculocutaneous type 3 (OCA3) [MIM:203290]	SWISS	738	pfam00264	4507757,NP_000541
7317	24418865	Disease	p.Met539Ile	VAR_043501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043501	- Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]	SWISS	80	pfam00899	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	VAR_043501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043501	- Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]	SWISS	66	cd01488	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	VAR_043501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043501	- Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]	SWISS	70	cd01484	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	VAR_043501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043501	- Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]	SWISS	92	cd01483	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	VAR_043501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043501	- Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]	SWISS	65	cd01489	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	VAR_043501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043501	- Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]	SWISS	88	cd01490	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	VAR_043501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043501	- Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]	SWISS	156	COG0476	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Met539Ile	VAR_043501	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043501	- Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]	SWISS	92	cd00757	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	VAR_043502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043502	- Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]	SWISS	91	pfam00899	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	VAR_043502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043502	- Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]	SWISS	81	cd01488	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	VAR_043502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043502	- Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]	SWISS	80	cd01484	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	VAR_043502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043502	- Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]	SWISS	102	cd01483	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	VAR_043502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043502	- Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]	SWISS	74	cd01489	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	VAR_043502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043502	- Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]	SWISS	98	cd01490	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	VAR_043502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043502	- Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]	SWISS	164	COG0476	23510338,NP_003325|23510340,NP_695012
7317	24418865	Disease	p.Ser547Gly	VAR_043502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043502	- Spinal muscular atrophy X-linked type 2 (SMAX2) [MIM:301830]	SWISS	100	cd00757	23510338,NP_003325|23510340,NP_695012
29914	74753514	Disease	p.Asn102Ser	VAR_043714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043714	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	81	COG0382	7019551,NP_037451
29914	74753514	Disease	p.Asn102Ser	VAR_043714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043714	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	90	pfam01040	7019551,NP_037451
29914	74753514	Disease	p.Asn102Ser	VAR_043714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043714	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	72	COG1575	7019551,NP_037451
29914	74753514	Disease	p.Asp112Gly	VAR_043715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043715	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	91	COG0382	7019551,NP_037451
29914	74753514	Disease	p.Asp112Gly	VAR_043715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043715	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	102	pfam01040	7019551,NP_037451
29914	74753514	Disease	p.Asp112Gly	VAR_043715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043715	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	82	COG1575	7019551,NP_037451
29914	74753514	Disease	p.Asp118Gly	VAR_043716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043716	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	106	COG0382	7019551,NP_037451
29914	74753514	Disease	p.Asp118Gly	VAR_043716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043716	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	108	pfam01040	7019551,NP_037451
29914	74753514	Disease	p.Asp118Gly	VAR_043716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043716	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	95	COG1575	7019551,NP_037451
29914	74753514	Disease	p.Arg119Gly	VAR_043717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043717	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	107	COG0382	7019551,NP_037451
29914	74753514	Disease	p.Arg119Gly	VAR_043717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043717	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	119	pfam01040	7019551,NP_037451
29914	74753514	Disease	p.Arg119Gly	VAR_043717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043717	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	96	COG1575	7019551,NP_037451
29914	74753514	Disease	p.Leu121Phe	VAR_043718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043718	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	109	COG0382	7019551,NP_037451
29914	74753514	Disease	p.Leu121Phe	VAR_043718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043718	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	150	pfam01040	7019551,NP_037451
29914	74753514	Disease	p.Leu121Phe	VAR_043718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043718	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	98	COG1575	7019551,NP_037451
29914	74753514	Disease	p.Ser171Pro	VAR_043719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043719	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	159	COG0382	7019551,NP_037451
29914	74753514	Disease	p.Ser171Pro	VAR_043719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043719	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	239	pfam01040	7019551,NP_037451
29914	74753514	Disease	p.Ser171Pro	VAR_043719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043719	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	146_G	COG1575	7019551,NP_037451
29914	74753514	Disease	p.Thr175Ile	VAR_043720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043720	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	163	COG0382	7019551,NP_037451
29914	74753514	Disease	p.Thr175Ile	VAR_043720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043720	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	244	pfam01040	7019551,NP_037451
29914	74753514	Disease	p.Thr175Ile	VAR_043720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043720	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	150	COG1575	7019551,NP_037451
29914	74753514	Disease	p.Gly177Arg	VAR_043721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043721	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	167	COG0382	7019551,NP_037451
29914	74753514	Disease	p.Gly177Arg	VAR_043721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043721	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	246	pfam01040	7019551,NP_037451
29914	74753514	Disease	p.Gly177Arg	VAR_043721	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043721	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	152	COG1575	7019551,NP_037451
29914	74753514	Disease	p.Gly186Arg	VAR_043722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043722	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	176	COG0382	7019551,NP_037451
29914	74753514	Disease	p.Gly186Arg	VAR_043722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043722	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	273	pfam01040	7019551,NP_037451
29914	74753514	Disease	p.Gly186Arg	VAR_043722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043722	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	162	COG1575	7019551,NP_037451
29914	74753514	Disease	p.Asn232Ser	VAR_043723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043723	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	231	COG0382	7019551,NP_037451
29914	74753514	Disease	p.Asn232Ser	VAR_043723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043723	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	425	pfam01040	7019551,NP_037451
29914	74753514	Disease	p.Asn232Ser	VAR_043723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043723	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	231	COG1575	7019551,NP_037451
29914	74753514	Disease	p.Asp236Glu	VAR_043724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043724	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	235	COG0382	7019551,NP_037451
29914	74753514	Disease	p.Asp236Glu	VAR_043724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043724	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	436	pfam01040	7019551,NP_037451
29914	74753514	Disease	p.Asp236Glu	VAR_043724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043724	- Crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]	SWISS	235	COG1575	7019551,NP_037451
197131	73622071	Disease	p.His136Arg	VAR_024741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024741	- Johanson-Blizzard syndrome (JBS) [MIM:243800]	SWISS	74	pfam02207	28372497,NP_777576
197131	73622071	Disease	p.His136Arg	VAR_024741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024741	- Johanson-Blizzard syndrome (JBS) [MIM:243800]	SWISS	46	smart00396	28372497,NP_777576
197131	73622071	Disease	p.Gly1279Ser	VAR_024742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_024742	- Johanson-Blizzard syndrome (JBS) [MIM:243800]	SWISS	No Domain	N/A	28372497,NP_777576
54658	136729	Disease	p.Leu15Arg	VAR_019410	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019410	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	No Domain	N/A	8850236,NP_000454
54658	136729	Disease	p.Pro34Gln	VAR_026134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026134	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	7_G	COG1819	8850236,NP_000454
54658	136729	Disease	p.Pro34Gln	VAR_026134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026134	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	7	cd03784	8850236,NP_000454
54658	136729	Disease	p.Pro34Gln	VAR_026134	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026134	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	7	pfam00201	8850236,NP_000454
54658	136729	Disease	p.His39Asp	VAR_026135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026135	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	15	COG1819	8850236,NP_000454
54658	136729	Disease	p.His39Asp	VAR_026135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026135	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	14	cd03784	8850236,NP_000454
54658	136729	Disease	p.His39Asp	VAR_026135	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026135	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	12	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Gly71Arg	VAR_009504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009504	rs4148323 Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	47	COG1819	8850236,NP_000454
54658	136729	Disease	p.Gly71Arg	VAR_009504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009504	rs4148323 Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	75	cd03784	8850236,NP_000454
54658	136729	Disease	p.Gly71Arg	VAR_009504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009504	rs4148323 Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	46	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Gly71Arg	VAR_009504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009504	rs4148323 Gilbert syndrome [MIM:143500]	SWISS	47	COG1819	8850236,NP_000454
54658	136729	Disease	p.Gly71Arg	VAR_009504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009504	rs4148323 Gilbert syndrome [MIM:143500]	SWISS	75	cd03784	8850236,NP_000454
54658	136729	Disease	p.Gly71Arg	VAR_009504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009504	rs4148323 Gilbert syndrome [MIM:143500]	SWISS	46	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Gly71Arg	VAR_009504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009504	rs4148323 Transient familial neonatal hyperbilirubinemia [MIM:237900]	SWISS	47	COG1819	8850236,NP_000454
54658	136729	Disease	p.Gly71Arg	VAR_009504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009504	rs4148323 Transient familial neonatal hyperbilirubinemia [MIM:237900]	SWISS	75	cd03784	8850236,NP_000454
54658	136729	Disease	p.Gly71Arg	VAR_009504	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009504	rs4148323 Transient familial neonatal hyperbilirubinemia [MIM:237900]	SWISS	46	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Phe83Leu	VAR_026136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026136	rs56059937 Gilbert syndrome [MIM:143500]	SWISS	60	COG1819	8850236,NP_000454
54658	136729	Disease	p.Phe83Leu	VAR_026136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026136	rs56059937 Gilbert syndrome [MIM:143500]	SWISS	87	cd03784	8850236,NP_000454
54658	136729	Disease	p.Phe83Leu	VAR_026136	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026136	rs56059937 Gilbert syndrome [MIM:143500]	SWISS	58	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Leu175Gln	VAR_019411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019411	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	149	COG1819	8850236,NP_000454
54658	136729	Disease	p.Leu175Gln	VAR_019411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019411	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	256	cd03784	8850236,NP_000454
54658	136729	Disease	p.Leu175Gln	VAR_019411	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019411	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	154	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Cys177Arg	VAR_007697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007697	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	151	COG1819	8850236,NP_000454
54658	136729	Disease	p.Cys177Arg	VAR_007697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007697	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	258	cd03784	8850236,NP_000454
54658	136729	Disease	p.Cys177Arg	VAR_007697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007697	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	156	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Arg209Trp	VAR_007698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007698	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	188	COG1819	8850236,NP_000454
54658	136729	Disease	p.Arg209Trp	VAR_007698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007698	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	301	cd03784	8850236,NP_000454
54658	136729	Disease	p.Arg209Trp	VAR_007698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007698	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	189	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Val225Gly	VAR_026137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026137	rs35003977 Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	208	COG1819	8850236,NP_000454
54658	136729	Disease	p.Val225Gly	VAR_026137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026137	rs35003977 Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	317	cd03784	8850236,NP_000454
54658	136729	Disease	p.Val225Gly	VAR_026137	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026137	rs35003977 Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	205	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Pro229Gln	VAR_009505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009505	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	212	COG1819	8850236,NP_000454
54658	136729	Disease	p.Pro229Gln	VAR_009505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009505	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	321	cd03784	8850236,NP_000454
54658	136729	Disease	p.Pro229Gln	VAR_009505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009505	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	209	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Pro229Gln	VAR_009505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009505	- Gilbert syndrome [MIM:143500]	SWISS	212	COG1819	8850236,NP_000454
54658	136729	Disease	p.Pro229Gln	VAR_009505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009505	- Gilbert syndrome [MIM:143500]	SWISS	321	cd03784	8850236,NP_000454
54658	136729	Disease	p.Pro229Gln	VAR_009505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009505	- Gilbert syndrome [MIM:143500]	SWISS	209	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Gly276Arg	VAR_007699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007699	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	256_G	COG1819	8850236,NP_000454
54658	136729	Disease	p.Gly276Arg	VAR_007699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007699	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	434	cd03784	8850236,NP_000454
54658	136729	Disease	p.Gly276Arg	VAR_007699	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007699	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	257	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Glu291Val	VAR_026138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026138	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	260	COG1819	8850236,NP_000454
54658	136729	Disease	p.Glu291Val	VAR_026138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026138	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	449	cd03784	8850236,NP_000454
54658	136729	Disease	p.Glu291Val	VAR_026138	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026138	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	272	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Ala292Val	VAR_007700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007700	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	261	COG1819	8850236,NP_000454
54658	136729	Disease	p.Ala292Val	VAR_007700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007700	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	450	cd03784	8850236,NP_000454
54658	136729	Disease	p.Ala292Val	VAR_007700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007700	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	273	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Ile294Thr	VAR_026139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026139	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	263	COG1819	8850236,NP_000454
54658	136729	Disease	p.Ile294Thr	VAR_026139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026139	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	452	cd03784	8850236,NP_000454
54658	136729	Disease	p.Ile294Thr	VAR_026139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026139	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	275	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Ile294Thr	VAR_026139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026139	- Gilbert syndrome [MIM:143500]	SWISS	263	COG1819	8850236,NP_000454
54658	136729	Disease	p.Ile294Thr	VAR_026139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026139	- Gilbert syndrome [MIM:143500]	SWISS	452	cd03784	8850236,NP_000454
54658	136729	Disease	p.Ile294Thr	VAR_026139	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026139	- Gilbert syndrome [MIM:143500]	SWISS	275	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Gly308Glu	VAR_007701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007701	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	280	COG1819	8850236,NP_000454
54658	136729	Disease	p.Gly308Glu	VAR_007701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007701	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	479	cd03784	8850236,NP_000454
54658	136729	Disease	p.Gly308Glu	VAR_007701	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007701	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	289	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Gln331Arg	VAR_007702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007702	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	309	COG1819	8850236,NP_000454
54658	136729	Disease	p.Gln331Arg	VAR_007702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007702	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	530	cd03784	8850236,NP_000454
54658	136729	Disease	p.Gln331Arg	VAR_007702	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007702	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	312	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Arg336Leu	VAR_026140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026140	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	314	COG1819	8850236,NP_000454
54658	136729	Disease	p.Arg336Leu	VAR_026140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026140	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	534_G	cd03784	8850236,NP_000454
54658	136729	Disease	p.Arg336Leu	VAR_026140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026140	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	317	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Arg336Leu	VAR_026140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026140	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	314	COG1819	8850236,NP_000454
54658	136729	Disease	p.Arg336Leu	VAR_026140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026140	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	534_G	cd03784	8850236,NP_000454
54658	136729	Disease	p.Arg336Leu	VAR_026140	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026140	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	317	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Arg336Gln	VAR_026141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026141	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	314	COG1819	8850236,NP_000454
54658	136729	Disease	p.Arg336Gln	VAR_026141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026141	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	534_G	cd03784	8850236,NP_000454
54658	136729	Disease	p.Arg336Gln	VAR_026141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026141	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	317	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Arg336Trp	VAR_026142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026142	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	314	COG1819	8850236,NP_000454
54658	136729	Disease	p.Arg336Trp	VAR_026142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026142	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	534_G	cd03784	8850236,NP_000454
54658	136729	Disease	p.Arg336Trp	VAR_026142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026142	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	317	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Trp354Arg	VAR_026143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026143	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	341	COG1819	8850236,NP_000454
54658	136729	Disease	p.Trp354Arg	VAR_026143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026143	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	595	cd03784	8850236,NP_000454
54658	136729	Disease	p.Trp354Arg	VAR_026143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026143	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	345	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Gln357Arg	VAR_007703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007703	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	344	COG1819	8850236,NP_000454
54658	136729	Disease	p.Gln357Arg	VAR_007703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007703	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	600	cd03784	8850236,NP_000454
54658	136729	Disease	p.Gln357Arg	VAR_007703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007703	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	348	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Arg367Gly	VAR_012283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012283	rs55750087 Gilbert syndrome [MIM:143500]	SWISS	355	COG1819	8850236,NP_000454
54658	136729	Disease	p.Arg367Gly	VAR_012283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012283	rs55750087 Gilbert syndrome [MIM:143500]	SWISS	610	cd03784	8850236,NP_000454
54658	136729	Disease	p.Arg367Gly	VAR_012283	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012283	rs55750087 Gilbert syndrome [MIM:143500]	SWISS	358	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Ala368Thr	VAR_007704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007704	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	356	COG1819	8850236,NP_000454
54658	136729	Disease	p.Ala368Thr	VAR_007704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007704	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	611	cd03784	8850236,NP_000454
54658	136729	Disease	p.Ala368Thr	VAR_007704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007704	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	359	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Ser375Phe	VAR_007705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007705	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	363	COG1819	8850236,NP_000454
54658	136729	Disease	p.Ser375Phe	VAR_007705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007705	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	618	cd03784	8850236,NP_000454
54658	136729	Disease	p.Ser375Phe	VAR_007705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007705	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	366	pfam00201	8850236,NP_000454
54658	136729	Disease	p.His376Arg	VAR_026144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026144	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	364	COG1819	8850236,NP_000454
54658	136729	Disease	p.His376Arg	VAR_026144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026144	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	620	cd03784	8850236,NP_000454
54658	136729	Disease	p.His376Arg	VAR_026144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026144	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	367	pfam00201	8850236,NP_000454
54658	136729	Disease	p.His376Arg	VAR_026144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026144	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	364	COG1819	8850236,NP_000454
54658	136729	Disease	p.His376Arg	VAR_026144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026144	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	620	cd03784	8850236,NP_000454
54658	136729	Disease	p.His376Arg	VAR_026144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026144	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	367	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Gly377Val	VAR_026145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026145	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	365	COG1819	8850236,NP_000454
54658	136729	Disease	p.Gly377Val	VAR_026145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026145	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	621	cd03784	8850236,NP_000454
54658	136729	Disease	p.Gly377Val	VAR_026145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026145	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	368	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Gly377Val	VAR_026145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026145	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	365	COG1819	8850236,NP_000454
54658	136729	Disease	p.Gly377Val	VAR_026145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026145	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	621	cd03784	8850236,NP_000454
54658	136729	Disease	p.Gly377Val	VAR_026145	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026145	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	368	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Ser381Arg	VAR_007706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007706	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	369	COG1819	8850236,NP_000454
54658	136729	Disease	p.Ser381Arg	VAR_007706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007706	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	625	cd03784	8850236,NP_000454
54658	136729	Disease	p.Ser381Arg	VAR_007706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007706	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	372	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Pro387Ser	VAR_026146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026146	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	375	COG1819	8850236,NP_000454
54658	136729	Disease	p.Pro387Ser	VAR_026146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026146	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	632	cd03784	8850236,NP_000454
54658	136729	Disease	p.Pro387Ser	VAR_026146	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026146	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	378	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Gly395Val	VAR_026147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026147	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	385	COG1819	8850236,NP_000454
54658	136729	Disease	p.Gly395Val	VAR_026147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026147	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	640	cd03784	8850236,NP_000454
54658	136729	Disease	p.Gly395Val	VAR_026147	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026147	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	386	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Asn400Asp	VAR_019412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019412	rs28934877 Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	390	COG1819	8850236,NP_000454
54658	136729	Disease	p.Asn400Asp	VAR_019412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019412	rs28934877 Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	649	cd03784	8850236,NP_000454
54658	136729	Disease	p.Asn400Asp	VAR_019412	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019412	rs28934877 Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	391	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Ala401Pro	VAR_007707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007707	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	391	COG1819	8850236,NP_000454
54658	136729	Disease	p.Ala401Pro	VAR_007707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007707	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	650	cd03784	8850236,NP_000454
54658	136729	Disease	p.Ala401Pro	VAR_007707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007707	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	392	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Arg403Cys	VAR_026148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026148	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	393	COG1819	8850236,NP_000454
54658	136729	Disease	p.Arg403Cys	VAR_026148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026148	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	652	cd03784	8850236,NP_000454
54658	136729	Disease	p.Arg403Cys	VAR_026148	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026148	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	394	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Lys428Glu	VAR_007708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007708	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	418	COG1819	8850236,NP_000454
54658	136729	Disease	p.Lys428Glu	VAR_007708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007708	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	683	cd03784	8850236,NP_000454
54658	136729	Disease	p.Lys428Glu	VAR_007708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007708	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	419	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Trp461Arg	VAR_026149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026149	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	451	COG1819	8850236,NP_000454
54658	136729	Disease	p.Trp461Arg	VAR_026149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026149	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	452	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Trp461Arg	VAR_026149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026149	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	451	COG1819	8850236,NP_000454
54658	136729	Disease	p.Trp461Arg	VAR_026149	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026149	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	452	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Ala478Asp	VAR_026150	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026150	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	469	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Tyr486Asp	VAR_007709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007709	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	477	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Tyr486Asp	VAR_007709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007709	- Gilbert syndrome [MIM:143500]	SWISS	477	pfam00201	8850236,NP_000454
54658	136729	Disease	p.Tyr486Asp	VAR_007709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007709	- Transient familial neonatal hyperbilirubinemia [MIM:237900]	SWISS	477	pfam00201	8850236,NP_000454
54657	136731	Disease	p.Leu132Pro	VAR_009506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009506	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	104	COG1819	6005930,NP_009051
54657	136731	Disease	p.Leu132Pro	VAR_009506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009506	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	110	pfam00201	6005930,NP_009051
54657	136731	Disease	p.Leu132Pro	VAR_009506	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009506	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	156	cd03784	6005930,NP_009051
54657	136731	Disease	p.Gln332Arg	VAR_007710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007710	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	309	COG1819	6005930,NP_009051
54657	136731	Disease	p.Gln332Arg	VAR_007710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007710	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	312	pfam00201	6005930,NP_009051
54657	136731	Disease	p.Gln332Arg	VAR_007710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007710	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	530	cd03784	6005930,NP_009051
54657	136731	Disease	p.Ser376Phe	VAR_007711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007711	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	363	COG1819	6005930,NP_009051
54657	136731	Disease	p.Ser376Phe	VAR_007711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007711	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	366	pfam00201	6005930,NP_009051
54657	136731	Disease	p.Ser376Phe	VAR_007711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007711	- Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]	SWISS	618	cd03784	6005930,NP_009051
54657	136731	Disease	p.Tyr487Asp	VAR_009507	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009507	- Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]	SWISS	477	pfam00201	6005930,NP_009051
7369	137116	Disease	p.Cys77Tyr	VAR_025950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025950	- Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	10	pfam00008	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys77Tyr	VAR_025950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025950	- Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	17	smart00181	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys77Tyr	VAR_025950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025950	- Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	19	cd00053	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys77Tyr	VAR_025950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025950	- Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	14	pfam07645	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys77Tyr	VAR_025950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025950	- Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	25	smart00179	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys77Tyr	VAR_025950	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025950	- Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	25	cd00054	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Gly103Cys	VAR_017666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017666	rs28934584 Medullary cystic kidney disease type 2 (MCKD2) [MIM:603860]	SWISS	48	pfam00008	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Gly103Cys	VAR_017666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017666	rs28934584 Medullary cystic kidney disease type 2 (MCKD2) [MIM:603860]	SWISS	79	smart00181	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Gly103Cys	VAR_017666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017666	rs28934584 Medullary cystic kidney disease type 2 (MCKD2) [MIM:603860]	SWISS	82	cd00053	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Gly103Cys	VAR_017666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017666	rs28934584 Medullary cystic kidney disease type 2 (MCKD2) [MIM:603860]	SWISS	54	pfam07645	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Gly103Cys	VAR_017666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017666	rs28934584 Medullary cystic kidney disease type 2 (MCKD2) [MIM:603860]	SWISS	80	smart00179	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Gly103Cys	VAR_017666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017666	rs28934584 Medullary cystic kidney disease type 2 (MCKD2) [MIM:603860]	SWISS	86	cd00054	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys126Arg	VAR_025952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025952	- Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	28	cd00053	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys126Arg	VAR_025952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025952	- Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	27	smart00181	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys126Arg	VAR_025952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025952	- Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	36	cd00054	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys126Arg	VAR_025952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025952	- Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	34	smart00179	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys126Arg	VAR_025952	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025952	- Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	23	pfam07645	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Asn128Ser	VAR_025953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025953	- Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	30	cd00053	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Asn128Ser	VAR_025953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025953	- Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	29	smart00181	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Asn128Ser	VAR_025953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025953	- Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	38	cd00054	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Asn128Ser	VAR_025953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025953	- Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	36	smart00179	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Asn128Ser	VAR_025953	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025953	- Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	25	pfam07645	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys148Tyr	VAR_017667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017667	rs28934582 Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	85	cd00053	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys148Tyr	VAR_017667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017667	rs28934582 Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	82	smart00181	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys148Tyr	VAR_017667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017667	rs28934582 Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	89	cd00054	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys148Tyr	VAR_017667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017667	rs28934582 Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	83	smart00179	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys217Arg	VAR_017668	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017668	rs28934583 Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	No Domain	N/A	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys223Tyr	VAR_025956	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025956	- Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	No Domain	N/A	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Thr225Lys	VAR_025957	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025957	- Medullary cystic kidney disease type 2 (MCKD2) [MIM:603860]	SWISS	No Domain	N/A	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys248Trp	VAR_025958	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025958	- Medullary cystic kidney disease type 2 (MCKD2) [MIM:603860]	SWISS	No Domain	N/A	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys255Tyr	VAR_025959	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025959	- Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	No Domain	N/A	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys300Gly	VAR_025960	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025960	- Familial juvenile hyperuricemic nephropathy type 1 (HNFJ1) [MIM:162000]	SWISS	No Domain	N/A	56550049,NP_001008390|59850812,NP_003352
7369	137116	Disease	p.Cys315Arg	VAR_025961	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025961	- Glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI) [MIM:609886]	SWISS	No Domain	N/A	56550049,NP_001008390|59850812,NP_003352
7372	131708	Disease	p.Arg96Gly	VAR_006807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006807	- Hereditary orotic aciduria (HOA) [MIM:258900]	SWISS	107	COG0461	4507835,NP_000364
7372	131708	Disease	p.Arg96Gly	VAR_006807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006807	- Hereditary orotic aciduria (HOA) [MIM:258900]	SWISS	101	COG0503	4507835,NP_000364
7372	131708	Disease	p.Arg96Gly	VAR_006807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006807	- Hereditary orotic aciduria (HOA) [MIM:258900]	SWISS	91	pfam00156	4507835,NP_000364
7372	131708	Disease	p.Val109Gly	VAR_006808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006808	- Hereditary orotic aciduria (HOA) [MIM:258900]	SWISS	122	COG0461	4507835,NP_000364
7372	131708	Disease	p.Val109Gly	VAR_006808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006808	- Hereditary orotic aciduria (HOA) [MIM:258900]	SWISS	132	COG0503	4507835,NP_000364
7372	131708	Disease	p.Val109Gly	VAR_006808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006808	- Hereditary orotic aciduria (HOA) [MIM:258900]	SWISS	193	pfam00156	4507835,NP_000364
7372	131708	Disease	p.Gly429Arg	VAR_006810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006810	- Hereditary orotic aciduria (HOA) [MIM:258900]	SWISS	363	pfam00215	4507835,NP_000364
7372	131708	Disease	p.Gly429Arg	VAR_006810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006810	- Hereditary orotic aciduria (HOA) [MIM:258900]	SWISS	424	cd04725	4507835,NP_000364
7372	131708	Disease	p.Gly429Arg	VAR_006810	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006810	- Hereditary orotic aciduria (HOA) [MIM:258900]	SWISS	262	COG0284	4507835,NP_000364
7374	37999897	Disease	p.Phe251Ser	VAR_017094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017094	- Immunodeficiency with hyper-IgM type 5 syndrome (HIGM5) [MIM:608106]	SWISS	212	COG0692	19718751,NP_550433
7374	37999897	Disease	p.Phe251Ser	VAR_017094	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017094	- Immunodeficiency with hyper-IgM type 5 syndrome (HIGM5) [MIM:608106]	SWISS	356	pfam03167	19718751,NP_550433
65109	60390643	Disease	p.Tyr160Asp	VAR_037666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_037666	- Mental retardation syndromic X-linked type 14 (MRXS14) [MIM:300676]	SWISS	155	pfam03467	18375528,NP_542199
7380	54042316	Disease	p.Gly202Asp	VAR_044400	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044400	- Renal adysplasia [MIM:191830]	SWISS	No Domain	N/A	5902152,NP_008884
7380	54042316	Disease	p.Pro273Leu	VAR_044401	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_044401	- Renal adysplasia [MIM:191830]	SWISS	No Domain	N/A	5902152,NP_008884
27089	20141846	Disease	p.Ser45Phe	VAR_045911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045911	rs11544803 Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]	SWISS	45	pfam02939	83367083,NP_055217
131669	22256789	Disease	p.Leu70Pro	VAR_062649	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062649	- Urocanase deficiency (UROD) [MIM:276880]	SWISS	5	COG2987	21389467,NP_653240
131669	22256789	Disease	p.Arg450Cys	VAR_060221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060221	- Urocanase deficiency (UROD) [MIM:276880]	SWISS	412	pfam01175	21389467,NP_653240
131669	22256789	Disease	p.Arg450Cys	VAR_060221	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060221	- Urocanase deficiency (UROD) [MIM:276880]	SWISS	418	COG2987	21389467,NP_653240
7389	2507533	Disease	p.Gly25Glu	VAR_022567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022567	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	21	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Gly25Glu	VAR_022567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022567	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	6	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Gly25Glu	VAR_022567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022567	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	6	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Gly25Glu	VAR_022567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022567	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	6	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Gly25Glu	VAR_022567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022567	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	17	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Gly25Glu	VAR_022567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022567	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	15	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Phe46Leu	VAR_022568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022568	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	15	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Phe46Leu	VAR_022568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022568	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	57	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Phe46Leu	VAR_022568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022568	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	46	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Phe46Leu	VAR_022568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022568	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	29	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Phe46Leu	VAR_022568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022568	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	39_G	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Phe46Leu	VAR_022568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022568	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	51	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Phe46Leu	VAR_022568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022568	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	43_G	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Pro62Leu	VAR_009103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009103	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	38	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Pro62Leu	VAR_009103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009103	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	74	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Pro62Leu	VAR_009103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009103	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	63	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Pro62Leu	VAR_009103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009103	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	45	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Pro62Leu	VAR_009103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009103	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	44	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Pro62Leu	VAR_009103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009103	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	75	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Pro62Leu	VAR_009103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009103	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	49_G	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Ala80Gly	VAR_007910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007910	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	56	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Ala80Gly	VAR_007910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007910	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	94	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Ala80Gly	VAR_007910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007910	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	83	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Ala80Gly	VAR_007910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007910	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	64	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Ala80Gly	VAR_007910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007910	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	62	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Ala80Gly	VAR_007910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007910	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	96	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Ala80Gly	VAR_007910	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007910	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	67	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Ala80Ser	VAR_022569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022569	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	56	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Ala80Ser	VAR_022569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022569	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	94	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Ala80Ser	VAR_022569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022569	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	83	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Ala80Ser	VAR_022569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022569	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	64	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Ala80Ser	VAR_022569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022569	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	62	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Ala80Ser	VAR_022569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022569	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	96	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Ala80Ser	VAR_022569	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022569	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	67	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Val134Gln	VAR_009104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009104	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	144	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Val134Gln	VAR_009104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009104	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	154	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Val134Gln	VAR_009104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009104	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	146	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Val134Gln	VAR_009104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009104	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	136	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Val134Gln	VAR_009104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009104	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	121	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Val134Gln	VAR_009104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009104	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	216	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Val134Gln	VAR_009104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009104	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	173	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Val134Gln	VAR_009104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009104	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	144	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Val134Gln	VAR_009104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009104	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	154	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Val134Gln	VAR_009104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009104	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	146	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Val134Gln	VAR_009104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009104	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	136	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Val134Gln	VAR_009104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009104	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	121	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Val134Gln	VAR_009104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009104	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	216	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Val134Gln	VAR_009104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009104	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	173	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Arg142Gln	VAR_010985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010985	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	152	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Arg142Gln	VAR_010985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010985	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	162	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Arg142Gln	VAR_010985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010985	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	154	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Arg142Gln	VAR_010985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010985	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	144	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Arg142Gln	VAR_010985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010985	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	129	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Arg142Gln	VAR_010985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010985	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	224	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Arg142Gln	VAR_010985	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010985	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	182	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Arg144Pro	VAR_022570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022570	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	154	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Arg144Pro	VAR_022570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022570	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	164	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Arg144Pro	VAR_022570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022570	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	156	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Arg144Pro	VAR_022570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022570	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	146	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Arg144Pro	VAR_022570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022570	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	131	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Arg144Pro	VAR_022570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022570	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	230	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Arg144Pro	VAR_022570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022570	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	184	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Gly156Asp	VAR_022571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022571	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	168	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Gly156Asp	VAR_022571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022571	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	181	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Gly156Asp	VAR_022571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022571	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	170	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Gly156Asp	VAR_022571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022571	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	160	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Gly156Asp	VAR_022571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022571	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	148	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Gly156Asp	VAR_022571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022571	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	250	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Gly156Asp	VAR_022571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022571	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	191	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Leu161Gln	VAR_010986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010986	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	173	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Leu161Gln	VAR_010986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010986	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	186	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Leu161Gln	VAR_010986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010986	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	175	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Leu161Gln	VAR_010986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010986	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	165	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Leu161Gln	VAR_010986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010986	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	153	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Leu161Gln	VAR_010986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010986	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	258	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Leu161Gln	VAR_010986	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010986	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	220	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Met165Arg	VAR_007911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007911	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	177	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Met165Arg	VAR_007911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007911	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	190	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Met165Arg	VAR_007911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007911	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	179	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Met165Arg	VAR_007911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007911	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	169	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Met165Arg	VAR_007911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007911	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	153_G	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Met165Arg	VAR_007911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007911	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	262	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Met165Arg	VAR_007911	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007911	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	224	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	VAR_007714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007714	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	179	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	VAR_007714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007714	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	192	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	VAR_007714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007714	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	181	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	VAR_007714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007714	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	171	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	VAR_007714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007714	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	153_G	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	VAR_007714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007714	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	264	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	VAR_007714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007714	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	226	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	VAR_007714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007714	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	179	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	VAR_007714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007714	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	192	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	VAR_007714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007714	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	181	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	VAR_007714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007714	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	171	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	VAR_007714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007714	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	153_G	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	VAR_007714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007714	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	264	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Glu167Lys	VAR_007714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007714	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	226	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Arg193Pro	VAR_022572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022572	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	216	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Arg193Pro	VAR_022572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022572	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	218	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Arg193Pro	VAR_022572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022572	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	209	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Arg193Pro	VAR_022572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022572	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	208	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Arg193Pro	VAR_022572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022572	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	185	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Arg193Pro	VAR_022572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022572	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	314	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Arg193Pro	VAR_022572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022572	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	267	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Leu195Phe	VAR_007912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007912	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	218	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Leu195Phe	VAR_007912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007912	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	220	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Leu195Phe	VAR_007912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007912	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	211	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Leu195Phe	VAR_007912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007912	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	210	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Leu195Phe	VAR_007912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007912	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	187	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Leu195Phe	VAR_007912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007912	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	316	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Leu195Phe	VAR_007912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007912	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	269	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Leu216Gln	VAR_022573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022573	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	240	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Leu216Gln	VAR_022573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022573	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	242	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Leu216Gln	VAR_022573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022573	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	232	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Leu216Gln	VAR_022573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022573	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	234	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Leu216Gln	VAR_022573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022573	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	208	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Leu216Gln	VAR_022573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022573	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	344	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Leu216Gln	VAR_022573	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022573	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	300	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Glu218Lys	VAR_022574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022574	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	242	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Glu218Lys	VAR_022574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022574	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	244	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Glu218Lys	VAR_022574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022574	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	234	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Glu218Lys	VAR_022574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022574	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	236	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Glu218Lys	VAR_022574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022574	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	210	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Glu218Lys	VAR_022574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022574	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	346	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Glu218Lys	VAR_022574	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022574	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	302	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Ser219Phe	VAR_010987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010987	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	243	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Ser219Phe	VAR_010987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010987	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	245	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Ser219Phe	VAR_010987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010987	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	235	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Ser219Phe	VAR_010987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010987	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	237	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Ser219Phe	VAR_010987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010987	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	211	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Ser219Phe	VAR_010987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010987	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	351	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Ser219Phe	VAR_010987	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010987	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	303	cd03308	71051616,NP_000365
7389	2507533	Disease	p.His220Pro	VAR_009105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009105	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	244	cd00465	71051616,NP_000365
7389	2507533	Disease	p.His220Pro	VAR_009105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009105	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	246	COG0407	71051616,NP_000365
7389	2507533	Disease	p.His220Pro	VAR_009105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009105	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	236	cd00717	71051616,NP_000365
7389	2507533	Disease	p.His220Pro	VAR_009105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009105	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	238	cd03465	71051616,NP_000365
7389	2507533	Disease	p.His220Pro	VAR_009105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009105	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	212	cd03307	71051616,NP_000365
7389	2507533	Disease	p.His220Pro	VAR_009105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009105	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	354	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.His220Pro	VAR_009105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009105	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	304	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Phe229Leu	VAR_009106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009106	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	277	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Phe229Leu	VAR_009106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009106	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	259	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Phe229Leu	VAR_009106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009106	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	245	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Phe229Leu	VAR_009106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009106	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	271	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Phe229Leu	VAR_009106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009106	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	224	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Phe229Leu	VAR_009106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009106	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	371	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Phe229Leu	VAR_009106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009106	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	313	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Phe232Leu	VAR_022575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022575	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	280	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Phe232Leu	VAR_022575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022575	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	262	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Phe232Leu	VAR_022575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022575	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	248	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Phe232Leu	VAR_022575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022575	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	274	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Phe232Leu	VAR_022575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022575	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	227	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Phe232Leu	VAR_022575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022575	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	374	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Phe232Leu	VAR_022575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022575	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	316	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Pro235Ser	VAR_010988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010988	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	283	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Pro235Ser	VAR_010988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010988	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	265	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Pro235Ser	VAR_010988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010988	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	251	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Pro235Ser	VAR_010988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010988	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	277	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Pro235Ser	VAR_010988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010988	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	230	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Pro235Ser	VAR_010988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010988	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	377	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Pro235Ser	VAR_010988	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010988	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	319	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Leu253Gln	VAR_007913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007913	rs36033115 Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	301	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Leu253Gln	VAR_007913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007913	rs36033115 Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	284	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Leu253Gln	VAR_007913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007913	rs36033115 Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	278	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Leu253Gln	VAR_007913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007913	rs36033115 Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	295	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Leu253Gln	VAR_007913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007913	rs36033115 Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	242_G	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Leu253Gln	VAR_007913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007913	rs36033115 Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	405	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Leu253Gln	VAR_007913	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007913	rs36033115 Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	333	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Ile260Thr	VAR_022576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022576	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	308	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Ile260Thr	VAR_022576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022576	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	291	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Ile260Thr	VAR_022576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022576	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	285	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Ile260Thr	VAR_022576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022576	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	302	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Ile260Thr	VAR_022576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022576	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	249	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Ile260Thr	VAR_022576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022576	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	434	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Ile260Thr	VAR_022576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022576	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	338	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Gly281Glu	VAR_007715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007715	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	333	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Gly281Glu	VAR_007715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007715	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	321	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Gly281Glu	VAR_007715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007715	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	319	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Gly281Glu	VAR_007715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007715	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	328	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Gly281Glu	VAR_007715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007715	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	271	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Gly281Glu	VAR_007715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007715	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	473	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Gly281Glu	VAR_007715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007715	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	360	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Gly281Val	VAR_007716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007716	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	333	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Gly281Val	VAR_007716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007716	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	321	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Gly281Val	VAR_007716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007716	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	319	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Gly281Val	VAR_007716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007716	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	328	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Gly281Val	VAR_007716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007716	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	271	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Gly281Val	VAR_007716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007716	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	473	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Gly281Val	VAR_007716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007716	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	360	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Leu282Arg	VAR_022577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022577	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	334	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Leu282Arg	VAR_022577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022577	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	326	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Leu282Arg	VAR_022577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022577	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	320	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Leu282Arg	VAR_022577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022577	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	329	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Leu282Arg	VAR_022577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022577	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	272	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Leu282Arg	VAR_022577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022577	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	474	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Leu282Arg	VAR_022577	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022577	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	361	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Arg292Gly	VAR_007717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007717	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	347	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Arg292Gly	VAR_007717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007717	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	349	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Arg292Gly	VAR_007717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007717	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	334	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Arg292Gly	VAR_007717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007717	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	365	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Arg292Gly	VAR_007717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007717	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	285	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Arg292Gly	VAR_007717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007717	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	523	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Arg292Gly	VAR_007717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007717	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	371	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Gly303Ser	VAR_022578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022578	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	360	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Gly303Ser	VAR_022578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022578	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	364	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Gly303Ser	VAR_022578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022578	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	364	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Gly303Ser	VAR_022578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022578	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	377	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Gly303Ser	VAR_022578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022578	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	297	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Gly303Ser	VAR_022578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022578	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	566	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Gly303Ser	VAR_022578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022578	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	382	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Asn304Lys	VAR_007914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007914	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	361	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Asn304Lys	VAR_007914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007914	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	365	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Asn304Lys	VAR_007914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007914	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	365	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Asn304Lys	VAR_007914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007914	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	378	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Asn304Lys	VAR_007914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007914	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	298	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Asn304Lys	VAR_007914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007914	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	567	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Asn304Lys	VAR_007914	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007914	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	383	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Tyr311Cys	VAR_009107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009107	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	369	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Tyr311Cys	VAR_009107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009107	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	374	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Tyr311Cys	VAR_009107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009107	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	373	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Tyr311Cys	VAR_009107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009107	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	388	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Tyr311Cys	VAR_009107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009107	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	306	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Tyr311Cys	VAR_009107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009107	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	582	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Tyr311Cys	VAR_009107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009107	- Hepatoerythropoietic porphyria (HEP) [MIM:176100]	SWISS	392	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Gly318Arg	VAR_007915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007915	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	379	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Gly318Arg	VAR_007915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007915	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	383	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Gly318Arg	VAR_007915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007915	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	382	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Gly318Arg	VAR_007915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007915	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	399	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Gly318Arg	VAR_007915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007915	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	314	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Gly318Arg	VAR_007915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007915	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	594	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Gly318Arg	VAR_007915	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007915	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	399	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Met324Thr	VAR_009108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009108	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	385	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Met324Thr	VAR_009108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009108	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	389	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Met324Thr	VAR_009108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009108	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	388	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Met324Thr	VAR_009108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009108	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	405	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Met324Thr	VAR_009108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009108	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	320	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Met324Thr	VAR_009108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009108	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	607	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Met324Thr	VAR_009108	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009108	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	405	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Arg332His	VAR_007916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007916	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	397	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Arg332His	VAR_007916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007916	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	405	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Arg332His	VAR_007916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007916	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	403	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Arg332His	VAR_007916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007916	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	424	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Arg332His	VAR_007916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007916	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	327	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Arg332His	VAR_007916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007916	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	635	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Arg332His	VAR_007916	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007916	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	414	cd03308	71051616,NP_000365
7389	2507533	Disease	p.Ile334Thr	VAR_007917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007917	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	399	cd00465	71051616,NP_000365
7389	2507533	Disease	p.Ile334Thr	VAR_007917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007917	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	407	COG0407	71051616,NP_000365
7389	2507533	Disease	p.Ile334Thr	VAR_007917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007917	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	405	cd00717	71051616,NP_000365
7389	2507533	Disease	p.Ile334Thr	VAR_007917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007917	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	426	cd03465	71051616,NP_000365
7389	2507533	Disease	p.Ile334Thr	VAR_007917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007917	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	329	cd03307	71051616,NP_000365
7389	2507533	Disease	p.Ile334Thr	VAR_007917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007917	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	637	pfam01208	71051616,NP_000365
7389	2507533	Disease	p.Ile334Thr	VAR_007917	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007917	- Familial porphyria cutanea tarda (FPCT) [MIM:176100]	SWISS	416	cd03308	71051616,NP_000365
7390	122849	Disease	p.Val3Phe	VAR_021615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021615	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	4	COG1587	4557873,NP_000366
7390	122849	Disease	p.Leu4Phe	VAR_003674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003674	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	5	COG1587	4557873,NP_000366
7390	122849	Disease	p.Leu4Phe	VAR_003674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003674	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	2	cd06578	4557873,NP_000366
7390	122849	Disease	p.Tyr19Cys	VAR_003675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003675	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	20	COG1587	4557873,NP_000366
7390	122849	Disease	p.Tyr19Cys	VAR_003675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003675	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	25	cd06578	4557873,NP_000366
7390	122849	Disease	p.Tyr19Cys	VAR_003675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003675	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	3	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Ser47Pro	VAR_021616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021616	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	49	COG1587	4557873,NP_000366
7390	122849	Disease	p.Ser47Pro	VAR_021616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021616	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	71	cd06578	4557873,NP_000366
7390	122849	Disease	p.Ser47Pro	VAR_021616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021616	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	45	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Pro53Leu	VAR_003676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003676	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	55	COG1587	4557873,NP_000366
7390	122849	Disease	p.Pro53Leu	VAR_003676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003676	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	77	cd06578	4557873,NP_000366
7390	122849	Disease	p.Pro53Leu	VAR_003676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003676	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	51	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Thr62Ala	VAR_003677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003677	rs28941775 Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	68	COG1587	4557873,NP_000366
7390	122849	Disease	p.Thr62Ala	VAR_003677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003677	rs28941775 Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	88	cd06578	4557873,NP_000366
7390	122849	Disease	p.Thr62Ala	VAR_003677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003677	rs28941775 Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	64	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Ala66Val	VAR_003678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003678	rs28941774 Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	72	COG1587	4557873,NP_000366
7390	122849	Disease	p.Ala66Val	VAR_003678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003678	rs28941774 Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	92	cd06578	4557873,NP_000366
7390	122849	Disease	p.Ala66Val	VAR_003678	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003678	rs28941774 Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	68	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Ala69Thr	VAR_021617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021617	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	75	COG1587	4557873,NP_000366
7390	122849	Disease	p.Ala69Thr	VAR_021617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021617	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	95	cd06578	4557873,NP_000366
7390	122849	Disease	p.Ala69Thr	VAR_021617	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021617	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	71	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Cys73Arg	VAR_003679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003679	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	79	COG1587	4557873,NP_000366
7390	122849	Disease	p.Cys73Arg	VAR_003679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003679	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	99	cd06578	4557873,NP_000366
7390	122849	Disease	p.Cys73Arg	VAR_003679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003679	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	75	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Val82Phe	VAR_003680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003680	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	88	COG1587	4557873,NP_000366
7390	122849	Disease	p.Val82Phe	VAR_003680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003680	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	108	cd06578	4557873,NP_000366
7390	122849	Disease	p.Val82Phe	VAR_003680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003680	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	101	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Val99Ala	VAR_003681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003681	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	101	COG1587	4557873,NP_000366
7390	122849	Disease	p.Val99Ala	VAR_003681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003681	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	142	cd06578	4557873,NP_000366
7390	122849	Disease	p.Val99Ala	VAR_003681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003681	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	123	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Ala104Val	VAR_003682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003682	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	106	COG1587	4557873,NP_000366
7390	122849	Disease	p.Ala104Val	VAR_003682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003682	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	147	cd06578	4557873,NP_000366
7390	122849	Disease	p.Ala104Val	VAR_003682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003682	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	128	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Ile129Thr	VAR_021618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021618	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	138	COG1587	4557873,NP_000366
7390	122849	Disease	p.Ile129Thr	VAR_021618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021618	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	196	cd06578	4557873,NP_000366
7390	122849	Disease	p.Ile129Thr	VAR_021618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021618	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	173	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Gly188Arg	VAR_013558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013558	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	213	COG1587	4557873,NP_000366
7390	122849	Disease	p.Gly188Arg	VAR_013558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013558	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	320	cd06578	4557873,NP_000366
7390	122849	Disease	p.Gly188Arg	VAR_013558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013558	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	290	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Gly188Trp	VAR_021619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021619	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	213	COG1587	4557873,NP_000366
7390	122849	Disease	p.Gly188Trp	VAR_021619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021619	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	320	cd06578	4557873,NP_000366
7390	122849	Disease	p.Gly188Trp	VAR_021619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021619	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	290	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Ser212Pro	VAR_003683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003683	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	236	COG1587	4557873,NP_000366
7390	122849	Disease	p.Ser212Pro	VAR_003683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003683	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	377	cd06578	4557873,NP_000366
7390	122849	Disease	p.Ser212Pro	VAR_003683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003683	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	324	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Ile219Ser	VAR_021621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021621	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	251	COG1587	4557873,NP_000366
7390	122849	Disease	p.Ile219Ser	VAR_021621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021621	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	412	cd06578	4557873,NP_000366
7390	122849	Disease	p.Ile219Ser	VAR_021621	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021621	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	338	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Gly225Ser	VAR_003684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003684	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	257	COG1587	4557873,NP_000366
7390	122849	Disease	p.Gly225Ser	VAR_003684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003684	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	418	cd06578	4557873,NP_000366
7390	122849	Disease	p.Gly225Ser	VAR_003684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003684	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	345	pfam02602	4557873,NP_000366
7390	122849	Disease	p.Thr228Met	VAR_003685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003685	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	260	COG1587	4557873,NP_000366
7390	122849	Disease	p.Thr228Met	VAR_003685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003685	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	421	cd06578	4557873,NP_000366
7390	122849	Disease	p.Thr228Met	VAR_003685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_003685	- Congenital erythropoietic porphyria (CEP) [MIM:263700]	SWISS	348	pfam02602	4557873,NP_000366
124590	81175048	Disease	p.Leu48Pro	VAR_023739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023739	- Usher syndrome type 1G (USH1G) [MIM:606943]	SWISS	158	cd00204	34304383,NP_775748
124590	81175048	Disease	p.Leu48Pro	VAR_023739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023739	- Usher syndrome type 1G (USH1G) [MIM:606943]	SWISS	36	smart00248	34304383,NP_775748
124590	81175048	Disease	p.Leu48Pro	VAR_023739	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023739	- Usher syndrome type 1G (USH1G) [MIM:606943]	SWISS	40	pfam00023	34304383,NP_775748
124590	81175048	Disease	p.Asp458Val	VAR_060468	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_060468	- Usher syndrome type 1G (USH1G) [MIM:606943]	SWISS	No Domain	N/A	34304383,NP_775748
7399	91207975	Disease	p.Cys163Tyr	VAR_025761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025761	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	18	smart00560	NULL
7399	91207975	Disease	p.Val218Glu	VAR_025762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025762	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	130	smart00560	NULL
7399	91207975	Disease	p.Val230Met	VAR_025763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025763	rs45500891 Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	168	smart00560	NULL
7399	91207975	Disease	p.Gly268Arg	VAR_054557	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054557	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	216	smart00560	NULL
7399	91207975	Disease	p.Leu280Phe	VAR_054558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054558	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	7	smart00136	NULL
7399	91207975	Disease	p.Leu280Phe	VAR_054558	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054558	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	233	smart00560	NULL
7399	91207975	Disease	p.Glu284Lys	VAR_054559	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054559	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	10	smart00136	NULL
7399	91207975	Disease	p.Arg303Cys	VAR_054560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054560	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	22_G	pfam00055	NULL
7399	91207975	Disease	p.Arg303Cys	VAR_054560	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054560	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	30_G	smart00136	NULL
7399	91207975	Disease	p.Arg303Ser	VAR_054561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054561	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	22_G	pfam00055	NULL
7399	91207975	Disease	p.Arg303Ser	VAR_054561	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054561	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	30_G	smart00136	NULL
7399	91207975	Disease	p.Ser307Ile	VAR_054562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054562	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	24	pfam00055	NULL
7399	91207975	Disease	p.Ser307Ile	VAR_054562	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054562	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	34	smart00136	NULL
7399	91207975	Disease	p.Cys319Tyr	VAR_025764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025764	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	31	pfam00055	NULL
7399	91207975	Disease	p.Cys319Tyr	VAR_025764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025764	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	48	smart00136	NULL
7399	91207975	Disease	p.Arg334Gln	VAR_054563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054563	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	59	pfam00055	NULL
7399	91207975	Disease	p.Arg334Gln	VAR_054563	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054563	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	101	smart00136	NULL
7399	91207975	Disease	p.Arg334Trp	VAR_025765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025765	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	59	pfam00055	NULL
7399	91207975	Disease	p.Arg334Trp	VAR_025765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025765	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	101	smart00136	NULL
7399	91207975	Disease	p.Asn346His	VAR_025766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025766	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	71	pfam00055	NULL
7399	91207975	Disease	p.Asn346His	VAR_025766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025766	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	113	smart00136	NULL
7399	91207975	Disease	p.Thr352Ile	VAR_054564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054564	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	77	pfam00055	NULL
7399	91207975	Disease	p.Thr352Ile	VAR_054564	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054564	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	120	smart00136	NULL
7399	91207975	Disease	p.Asn357Thr	VAR_054565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054565	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	86	pfam00055	NULL
7399	91207975	Disease	p.Asn357Thr	VAR_054565	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054565	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	133	smart00136	NULL
7399	91207975	Disease	p.Ser391Ile	VAR_054567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054567	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	120	pfam00055	NULL
7399	91207975	Disease	p.Ser391Ile	VAR_054567	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054567	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	177	smart00136	NULL
7399	91207975	Disease	p.Cys419Phe	VAR_025767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025767	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	152	pfam00055	NULL
7399	91207975	Disease	p.Cys419Phe	VAR_025767	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025767	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	215	smart00136	NULL
7399	91207975	Disease	p.Arg464Cys	VAR_054568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054568	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	198	pfam00055	NULL
7399	91207975	Disease	p.Arg464Cys	VAR_054568	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054568	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	262	smart00136	NULL
7399	91207975	Disease	p.Glu478Asp	VAR_025768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025768	rs35730265 Retinitis pigmentosa type 39 (RP39) [MIM:268000]	SWISS	213	pfam00055	NULL
7399	91207975	Disease	p.Glu478Asp	VAR_025768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025768	rs35730265 Retinitis pigmentosa type 39 (RP39) [MIM:268000]	SWISS	276	smart00136	NULL
7399	91207975	Disease	p.Glu478Asp	VAR_025768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025768	rs35730265 Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	213	pfam00055	NULL
7399	91207975	Disease	p.Glu478Asp	VAR_025768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025768	rs35730265 Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	276	smart00136	NULL
7399	91207975	Disease	p.Gly516Val	VAR_054570	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054570	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	No Domain	N/A	NULL
7399	91207975	Disease	p.Arg517Thr	VAR_054571	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054571	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	No Domain	N/A	NULL
7399	91207975	Disease	p.Cys536Arg	VAR_025769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025769	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	47	cd00055	NULL
7399	91207975	Disease	p.Cys536Arg	VAR_025769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025769	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	61	smart00180	NULL
7399	91207975	Disease	p.Cys536Arg	VAR_025769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025769	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	36	pfam00053	NULL
7399	91207975	Disease	p.Leu555Val	VAR_025770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025770	rs35818432 Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	72	cd00055	NULL
7399	91207975	Disease	p.Leu555Val	VAR_025770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025770	rs35818432 Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	85	smart00180	NULL
7399	91207975	Disease	p.Leu555Val	VAR_025770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025770	rs35818432 Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	54	pfam00053	NULL
7399	91207975	Disease	p.Cys575Ser	VAR_054572	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054572	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	2	cd00055	NULL
7399	91207975	Disease	p.His610Pro	VAR_025771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025771	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	41	pfam00053	NULL
7399	91207975	Disease	p.His610Pro	VAR_025771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025771	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	66	smart00180	NULL
7399	91207975	Disease	p.His610Pro	VAR_025771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025771	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	53	cd00055	NULL
7399	91207975	Disease	p.Gly713Arg	VAR_025774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025774	rs696723 Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	45	cd00055	NULL
7399	91207975	Disease	p.Gly713Arg	VAR_025774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025774	rs696723 Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	34	pfam00053	NULL
7399	91207975	Disease	p.Gly713Arg	VAR_025774	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025774	rs696723 Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	58	smart00180	NULL
7399	91207975	Disease	p.Phe739Leu	VAR_054575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054575	- Retinitis pigmentosa type 39 (RP39) [MIM:268000]	SWISS	89	cd00055	NULL
7399	91207975	Disease	p.Phe739Leu	VAR_054575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054575	- Retinitis pigmentosa type 39 (RP39) [MIM:268000]	SWISS	66	pfam00053	NULL
7399	91207975	Disease	p.Phe739Leu	VAR_054575	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054575	- Retinitis pigmentosa type 39 (RP39) [MIM:268000]	SWISS	92	smart00180	NULL
7399	91207975	Disease	p.Cys759Phe	VAR_025775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025775	- Retinitis pigmentosa type 39 (RP39) [MIM:268000]	SWISS	22	cd00055	NULL
7399	91207975	Disease	p.Cys759Phe	VAR_025775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025775	- Retinitis pigmentosa type 39 (RP39) [MIM:268000]	SWISS	35	smart00180	NULL
7399	91207975	Disease	p.Cys759Phe	VAR_025775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025775	- Retinitis pigmentosa type 39 (RP39) [MIM:268000]	SWISS	18	pfam00053	NULL
7399	91207975	Disease	p.Cys759Phe	VAR_025775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025775	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	22	cd00055	NULL
7399	91207975	Disease	p.Cys759Phe	VAR_025775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025775	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	35	smart00180	NULL
7399	91207975	Disease	p.Cys759Phe	VAR_025775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025775	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	18	pfam00053	NULL
7399	91207975	Disease	p.Pro761Arg	VAR_025776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025776	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	24	cd00055	NULL
7399	91207975	Disease	p.Pro761Arg	VAR_025776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025776	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	37	smart00180	NULL
7399	91207975	Disease	p.Pro761Arg	VAR_025776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025776	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	20	pfam00053	NULL
7399	91207975	Disease	p.Thr911Asn	VAR_054576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054576	- Retinitis pigmentosa type 39 (RP39) [MIM:268000]	SWISS	20	cd00055	NULL
7399	91207975	Disease	p.Thr911Asn	VAR_054576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054576	- Retinitis pigmentosa type 39 (RP39) [MIM:268000]	SWISS	29	smart00180	NULL
7399	91207975	Disease	p.Thr911Asn	VAR_054576	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054576	- Retinitis pigmentosa type 39 (RP39) [MIM:268000]	SWISS	16	pfam00053	NULL
7399	91207975	Disease	p.Pro1059Leu	VAR_054578	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054578	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	2	pfam00041	NULL
7399	91207975	Disease	p.Pro1212Leu	VAR_054579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054579	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	94	pfam00041	NULL
7399	91207975	Disease	p.Pro1212Leu	VAR_054579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054579	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	167	smart00060	NULL
7399	91207975	Disease	p.Pro1212Leu	VAR_054579	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054579	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	146	cd00063	NULL
7399	91207975	Disease	p.Leu1470Arg	VAR_054581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054581	- Retinitis pigmentosa type 39 (RP39) [MIM:268000]	SWISS	No Domain	N/A	NULL
7399	91207975	Disease	p.Thr1515Met	VAR_025779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025779	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	No Domain	N/A	NULL
7399	91207975	Disease	p.Val1833Glu	VAR_054584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054584	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	409	smart00282	NULL
7399	91207975	Disease	p.Val1833Glu	VAR_054584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054584	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	227	cd00110	NULL
7399	91207975	Disease	p.Val1833Glu	VAR_054584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054584	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	134	pfam00054	NULL
7399	91207975	Disease	p.Val1833Glu	VAR_054584	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054584	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	199	pfam02210	NULL
7399	91207975	Disease	p.Ala2249Asp	VAR_054588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054588	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	12	smart00060	NULL
7399	91207975	Disease	p.Ala2249Asp	VAR_054588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054588	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	13	cd00063	NULL
7399	91207975	Disease	p.Arg2354His	VAR_054591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054591	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	40	smart00060	NULL
7399	91207975	Disease	p.Ala2795Ser	VAR_054593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054593	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	105	pfam00041	NULL
7399	91207975	Disease	p.Ala2795Ser	VAR_054593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054593	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	161	cd00063	NULL
7399	91207975	Disease	p.Ala2795Ser	VAR_054593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054593	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	181	smart00060	NULL
7399	91207975	Disease	p.Arg3124Gly	VAR_054597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054597	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	No Domain	N/A	NULL
7399	91207975	Disease	p.Cys3251Arg	VAR_054598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054598	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	No Domain	N/A	NULL
7399	91207975	Disease	p.Cys3267Arg	VAR_054599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054599	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	No Domain	N/A	NULL
7399	91207975	Disease	p.Cys3282Arg	VAR_054600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054600	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	No Domain	N/A	NULL
7399	91207975	Disease	p.Pro3504Thr	VAR_054602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054602	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	4	cd00063	NULL
7399	91207975	Disease	p.Trp3521Arg	VAR_054603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054603	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	43	cd00063	NULL
7399	91207975	Disease	p.Thr3571Met	VAR_054604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054604	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	163	cd00063	NULL
7399	91207975	Disease	p.Gly3895Glu	VAR_054608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054608	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	43	smart00060	NULL
7399	91207975	Disease	p.Gly3895Glu	VAR_054608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054608	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	57	cd00063	NULL
7399	91207975	Disease	p.Thr3976Met	VAR_054609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054609	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	15	smart00060	NULL
7399	91207975	Disease	p.Thr3976Met	VAR_054609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054609	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	12	pfam00041	NULL
7399	91207975	Disease	p.Thr3976Met	VAR_054609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054609	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	16	cd00063	NULL
7399	91207975	Disease	p.Ser4054Ile	VAR_054610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054610	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	114	pfam00041	NULL
7399	91207975	Disease	p.Ser4054Ile	VAR_054610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054610	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	174	cd00063	NULL
7399	91207975	Disease	p.Arg4115Cys	VAR_025780	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025780	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	No Domain	N/A	NULL
7399	91207975	Disease	p.Pro4232Arg	VAR_054611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054611	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	146	cd00063	NULL
7399	91207975	Disease	p.Pro4232Arg	VAR_054611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054611	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	167	smart00060	NULL
7399	91207975	Disease	p.Pro4232Arg	VAR_054611	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054611	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	94	pfam00041	NULL
7399	91207975	Disease	p.Thr4337Met	VAR_054612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054612	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	183	smart00060	NULL
7399	91207975	Disease	p.Thr4337Met	VAR_054612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054612	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	107	pfam00041	NULL
7399	91207975	Disease	p.Thr4337Met	VAR_054612	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054612	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	163	cd00063	NULL
7399	91207975	Disease	p.Thr4425Met	VAR_025781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025781	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	107	pfam00041	NULL
7399	91207975	Disease	p.Thr4425Met	VAR_025781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025781	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	163	cd00063	NULL
7399	91207975	Disease	p.Thr4425Met	VAR_025781	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025781	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	183	smart00060	NULL
7399	91207975	Disease	p.Thr4439Ile	VAR_054614	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054614	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	No Domain	N/A	NULL
7399	91207975	Disease	p.Tyr4487Cys	VAR_054615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054615	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	68	pfam00041	NULL
7399	91207975	Disease	p.Tyr4487Cys	VAR_054615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054615	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	98	cd00063	NULL
7399	91207975	Disease	p.Tyr4487Cys	VAR_054615	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054615	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	118	smart00060	NULL
7399	91207975	Disease	p.Gln4592His	VAR_054616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054616	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	135	cd00063	NULL
7399	91207975	Disease	p.Gln4592His	VAR_054616	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054616	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	154	smart00060	NULL
7399	91207975	Disease	p.Arg4674Gly	VAR_038369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038369	- Retinitis pigmentosa type 39 (RP39) [MIM:268000]	SWISS	43	pfam00041	NULL
7399	91207975	Disease	p.Arg4674Gly	VAR_038369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038369	- Retinitis pigmentosa type 39 (RP39) [MIM:268000]	SWISS	70	smart00060	NULL
7399	91207975	Disease	p.Arg4674Gly	VAR_038369	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038369	- Retinitis pigmentosa type 39 (RP39) [MIM:268000]	SWISS	66	cd00063	NULL
7399	91207975	Disease	p.Leu4795Arg	VAR_054618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054618	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	No Domain	N/A	NULL
7399	91207975	Disease	p.Pro4818Leu	VAR_054619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054619	- Usher syndrome type 2A (USH2A) [MIM:276901]	SWISS	No Domain	N/A	NULL
81839	38258809	Disease	p.Ser83Leu	VAR_062322	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062322	- Neural tube defects (NTD) [MIM:182940]	SWISS	86	pfam06638	20373171,NP_620409|289547198,NP_001165883
81839	38258809	Disease	p.Phe153Ser	VAR_062323	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062323	- Neural tube defects (NTD) [MIM:182940]	SWISS	175	pfam06638	20373171,NP_620409|289547198,NP_001165883
81839	38258809	Disease	p.Arg181Gln	VAR_062325	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062325	- Neural tube defects (NTD) [MIM:182940]	SWISS	203	pfam06638	20373171,NP_620409|289547198,NP_001165883
81839	38258809	Disease	p.Leu202Phe	VAR_062326	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062326	- Neural tube defects (NTD) [MIM:182940]	SWISS	225	pfam06638	20373171,NP_620409|289547198,NP_001165883
81839	38258809	Disease	p.Val239Ile	VAR_035209	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035209	- Sacral defect with anterior meningocele (SDAM) [MIM:600145]	SWISS	271	pfam06638	20373171,NP_620409|289547198,NP_001165883
81839	38258809	Disease	p.Arg274Gln	VAR_035210	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035210	- Neural tube defects (NTD) [MIM:182940]	SWISS	306	pfam06638	20373171,NP_620409|289547198,NP_001165883
81839	38258809	Disease	p.Met328Thr	VAR_035211	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035211	- Neural tube defects (NTD) [MIM:182940]	SWISS	376	pfam06638	20373171,NP_620409|289547198,NP_001165883
81839	38258809	Disease	p.Ala404Ser	VAR_062329	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062329	- Neural tube defects (NTD) [MIM:182940]	SWISS	467	pfam06638	20373171,NP_620409|289547198,NP_001165883
9217	24638339	Disease	p.Pro56Ser	VAR_026743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026743	- Amyotrophic lateral sclerosis type 8 (ALS8) [MIM:608627]	SWISS	50	COG5066	4759302,NP_004729
9217	24638339	Disease	p.Pro56Ser	VAR_026743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026743	- Amyotrophic lateral sclerosis type 8 (ALS8) [MIM:608627]	SWISS	62	pfam00635	4759302,NP_004729
9217	24638339	Disease	p.Pro56Ser	VAR_026743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026743	- Spinal muscular atrophy autosomal dominant Finkel type (SMAF) [MIM:182980]	SWISS	50	COG5066	4759302,NP_004729
9217	24638339	Disease	p.Pro56Ser	VAR_026743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026743	- Spinal muscular atrophy autosomal dominant Finkel type (SMAF) [MIM:182980]	SWISS	62	pfam00635	4759302,NP_004729
7414	21903479	Disease	p.Leu277Met	VAR_035101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035101	- Cardiomyopathy familial hypertrophic type 15 (CMH15) [MIM:613255]	SWISS	278	pfam01044	7669550,NP_054706
7414	21903479	Disease	p.Arg975Trp	VAR_035105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035105	- Cardiomyopathy dilated type 1W (CMD1W) [MIM:611407]	SWISS	1025	pfam01044	7669550,NP_054706
7415	6094447	Disease	p.Arg95Gly	VAR_033016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033016	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	99	pfam02359	6005942,NP_009057
7415	6094447	Disease	p.Arg95Gly	VAR_033016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033016	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	59	COG0465	6005942,NP_009057
7415	6094447	Disease	p.Arg95Gly	VAR_033016	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033016	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	40	COG1222	6005942,NP_009057
7415	6094447	Disease	p.Arg155Cys	VAR_033017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033017	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	159	COG0465	6005942,NP_009057
7415	6094447	Disease	p.Arg155Cys	VAR_033017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033017	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	48	pfam02933	6005942,NP_009057
7415	6094447	Disease	p.Arg155Cys	VAR_033017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033017	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	136	COG1222	6005942,NP_009057
7415	6094447	Disease	p.Arg155His	VAR_033018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033018	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	159	COG0465	6005942,NP_009057
7415	6094447	Disease	p.Arg155His	VAR_033018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033018	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	48	pfam02933	6005942,NP_009057
7415	6094447	Disease	p.Arg155His	VAR_033018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033018	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	136	COG1222	6005942,NP_009057
7415	6094447	Disease	p.Arg155Pro	VAR_033019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033019	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	159	COG0465	6005942,NP_009057
7415	6094447	Disease	p.Arg155Pro	VAR_033019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033019	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	48	pfam02933	6005942,NP_009057
7415	6094447	Disease	p.Arg155Pro	VAR_033019	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033019	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	136	COG1222	6005942,NP_009057
7415	6094447	Disease	p.Arg159His	VAR_033020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033020	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	163	COG0465	6005942,NP_009057
7415	6094447	Disease	p.Arg159His	VAR_033020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033020	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	70	pfam02933	6005942,NP_009057
7415	6094447	Disease	p.Arg159His	VAR_033020	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033020	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	140	COG1222	6005942,NP_009057
7415	6094447	Disease	p.Arg191Gln	VAR_033021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033021	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	219	COG0465	6005942,NP_009057
7415	6094447	Disease	p.Arg191Gln	VAR_033021	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033021	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	184	COG1222	6005942,NP_009057
7415	6094447	Disease	p.Ala232Glu	VAR_033022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033022	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	12	COG0464	6005942,NP_009057
7415	6094447	Disease	p.Ala232Glu	VAR_033022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033022	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	77	cd00009	6005942,NP_009057
7415	6094447	Disease	p.Ala232Glu	VAR_033022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033022	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	291	COG0465	6005942,NP_009057
7415	6094447	Disease	p.Ala232Glu	VAR_033022	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033022	- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) [MIM:167320]	SWISS	227	COG1222	6005942,NP_009057
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	13	cd06962	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	13	cd07161	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	19	cd07163	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	18	cd07168	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	18	cd07169	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	12	cd06956	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	12	pfam00105	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	12	cd06969	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	12	cd06966	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	12	cd07157	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	30	cd07160	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	16	cd06964	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	17	cd06968	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	16	cd07170	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	18	cd06955	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	18	cd06970	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	14	smart00399	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	11	cd07162	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	11	cd06959	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	11	cd06961	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	11	cd06965	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	14	cd07172	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	10	cd07165	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	10	cd07156	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	10	cd07154	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	10	cd06916	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	10	cd07158	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	10	cd07179	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	10	cd07167	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	10	cd06960	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	10	cd07155	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	10	cd07164	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	10	cd06957	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	10	cd06958	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	10	cd06963	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	15	cd07166	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	15	cd07173	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	15	cd07171	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly33Asp	VAR_004656	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004656	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	15	cd06967	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	15	cd06962	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	15	cd07161	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	21	cd07163	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	20	cd07168	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	20	cd07169	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	14	cd06956	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	14	pfam00105	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	14	cd06969	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	14	cd06966	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	14	cd07157	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	32	cd07160	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	18	cd06964	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	19	cd06968	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	18	cd07170	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	20	cd06955	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	20	cd06970	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	18	smart00399	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	13	cd07162	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	13	cd06959	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	13	cd06961	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	13	cd06965	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	16	cd07172	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	12	cd07165	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	12	cd07156	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	12	cd07154	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	12	cd06916	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	12	cd07158	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	12	cd07179	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	12	cd07167	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	12	cd06960	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	12	cd07155	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	12	cd07164	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	12	cd06957	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	12	cd06958	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	12	cd06963	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	17	cd07166	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	17	cd07173	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	17	cd07171	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His35Gln	VAR_004657	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004657	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	17	cd06967	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	25	cd06962	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	25	cd07161	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	31	cd07163	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	30	cd07168	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	30	cd07169	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd06956	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	pfam00105	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd06969	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd06966	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd07157	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	42	cd07160	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	28	cd06964	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	29	cd06968	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	28	cd07170	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	30	cd06955	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	30	cd06970	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	31	smart00399	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	23	cd07162	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	23	cd06959	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	23	cd06961	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	23	cd06965	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	26	cd07172	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	22	cd07165	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	22	cd07156	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	22	cd07154	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	22	cd06916	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	22	cd07158	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	22	cd07179	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	22	cd07167	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	22	cd06960	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	22	cd07155	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	22	cd07164	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	22	cd06957	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	22	cd06958	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	22	cd06963	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	27	cd07166	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	27	cd07173	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	27	cd07171	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Lys45Glu	VAR_004658	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004658	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	27	cd06967	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	26	cd06962	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	26	cd07161	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	32	cd07163	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	31	cd07168	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	31	cd07169	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	25	cd06956	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	25	pfam00105	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	25	cd06969	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	25	cd06966	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	25	cd07157	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	43	cd07160	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	29	cd06964	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	30	cd06968	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	29	cd07170	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	31	cd06955	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	31	cd06970	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	35	smart00399	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd07162	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd06959	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd06961	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd06965	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	27	cd07172	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	23	cd07165	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	23	cd07156	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	23	cd07154	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	23	cd06916	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	23	cd07158	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	23	cd07179	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	23	cd07167	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	23	cd06960	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	23	cd07155	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	23	cd07164	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	23	cd06957	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	23	cd06958	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	23	cd06963	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	28	cd07166	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	28	cd07173	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	28	cd07171	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Gly46Asp	VAR_004659	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004659	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	28	cd06967	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	27	cd06962	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	27	cd07161	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	33	cd07163	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	32	cd07168	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	32	cd07169	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	26	cd06956	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	26	pfam00105	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	26	cd06969	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	26	cd06966	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	26	cd07157	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	44	cd07160	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	30	cd06964	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	31	cd06968	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	30	cd07170	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	32	cd06955	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	32	cd06970	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	36	smart00399	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	25	cd07162	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	25	cd06959	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	25	cd06961	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	25	cd06965	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	28	cd07172	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd07165	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd07156	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd07154	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd06916	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd07158	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd07179	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd07167	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd06960	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd07155	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd07164	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd06957	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd06958	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	24	cd06963	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	29	cd07166	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	29	cd07173	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	29	cd07171	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Phe47Ile	VAR_004660	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004660	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	29	cd06967	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	30	cd06962	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	30	cd07161	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	36	cd07163	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	35	cd07168	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	35	cd07169	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	29	cd06956	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	29	pfam00105	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	29	cd06969	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	29	cd06966	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	29	cd07157	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	47	cd07160	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	33	cd06964	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	34	cd06968	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	33	cd07170	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	35	cd06955	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	35	cd06970	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	52	smart00399	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	28	cd07162	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	28	cd06959	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	28	cd06961	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	28	cd06965	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	31	cd07172	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	27	cd07165	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	27	cd07156	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	27	cd07154	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	27	cd06916	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	27	cd07158	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	27	cd07179	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	27	cd07167	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	27	cd06960	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	27	cd07155	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	27	cd07164	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	27	cd06957	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	27	cd06958	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	27	cd06963	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	32	cd07166	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	32	cd07173	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	32	cd07171	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg50Gln	VAR_004661	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004661	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	32	cd06967	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	53	cd06962	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	53	cd07161	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	64	cd07163	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	59	cd07168	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	58	cd07169	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	52	cd06956	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	56	pfam00105	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	53	cd06969	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	52	cd06966	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	62	cd07157	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	72	cd07160	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	56	cd06964	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	57	cd06968	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	56	cd07170	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	58	cd06955	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	59	cd06970	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	118	smart00399	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	52	cd07162	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	51	cd06959	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	57	cd06961	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	55	cd06965	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	63	cd07172	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	50	cd07165	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	52	cd07156	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	52	cd07154	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	68	cd06916	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	51	cd07158	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	58	cd07179	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	53	cd07167	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	53	cd06960	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	50	cd07155	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	50	cd07164	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	51	cd06957	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	50	cd06958	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	50	cd06963	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	56	cd07166	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	55	cd07173	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	56	cd07171	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg73Gln	VAR_004662	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004662	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	55	cd06967	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	60	cd06962	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	60	cd07161	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	71	cd07163	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	66	cd07168	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	65	cd07169	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	59	cd06956	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	63	pfam00105	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	60	cd06969	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	59	cd06966	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	69	cd07157	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	79	cd07160	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	63	cd06964	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	64	cd06968	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	63	cd07170	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	65	cd06955	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	66	cd06970	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	125	smart00399	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	59	cd07162	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	58	cd06959	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	64	cd06961	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	62	cd06965	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	70	cd07172	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	57	cd07165	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	59	cd07156	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	59	cd07154	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	75	cd06916	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	58	cd07158	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	65	cd07179	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	60	cd07167	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	60	cd06960	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	57	cd07155	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	57	cd07164	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	58	cd06957	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	57	cd06958	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	57	cd06963	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	63	cd07166	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	62	cd07173	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	63	cd07171	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg80Gln	VAR_004663	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004663	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	62	cd06967	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	182	cd06934	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	152	cd06933	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	90	cd07071	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	90	cd06937	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	181	smart00430	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	96	cd06943	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	48	cd06930	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	90	cd07348	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	115	cd07068	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	64	cd06940	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	194	cd06932	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	140	cd06954	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	115	cd06946	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	111	cd06935	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	51	cd06157	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	119	cd06945	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	84	cd06931	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	93	cd07072	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	93	cd06938	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	18	pfam00104	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	85	cd06936	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	106	cd06939	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	53	cd06929	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	51	cd06942	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	51	cd06941	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg274Leu	VAR_004664	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004664	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	78	cd06953	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	211	cd06934	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	183	cd06933	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	120_G	cd07071	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	120	cd06937	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	626	smart00430	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	149	cd06943	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	108	cd06930	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	120_G	cd07348	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	154	cd07068	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	94	cd06940	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	222	cd06932	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	170	cd06954	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	145	cd06946	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	141	cd06935	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	106	cd06157	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	150	cd06945	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	122_G	cd06931	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	124	cd07072	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	126	cd06938	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	108	pfam00104	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	156	cd06936	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	134	cd06939	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	115	cd06929	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	85_G	cd06942	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	104	cd06941	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.His305Gln	VAR_004665	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004665	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	163	cd06953	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	220	cd06934	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	192	cd06933	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	127	cd07071	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	128	cd06937	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	660	smart00430	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	161_G	cd06943	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	117	cd06930	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	127	cd07348	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	163	cd07068	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	103	cd06940	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	233	cd06932	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	179	cd06954	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	154	cd06946	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	149	cd06935	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	115	cd06157	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	159	cd06945	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	131	cd06931	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	130	cd07072	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	134	cd06938	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	142	pfam00104	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	173	cd06936	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	145	cd06939	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	124	cd06929	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	93	cd06942	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	113	cd06941	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Ile314Ser	VAR_004666	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004666	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	172	cd06953	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	328	cd06934	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	269	cd06933	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	203	cd07071	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	203	cd06937	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	882	smart00430	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	226	cd06930	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	205	cd07348	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	251	cd07068	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	178	cd06940	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	308	cd06932	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	254	cd06954	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	234	cd06946	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	251	cd06935	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	205	cd06157	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	240	cd06945	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	205	cd06931	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	207	cd07072	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	212	cd06938	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	329	pfam00104	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	248	cd06936	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	224	cd06939	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	228	cd06929	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	187	cd06942	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	192	cd06941	4507883,NP_000367|63054845,NP_001017535
7421	137617	Disease	p.Arg391Cys	VAR_004667	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_004667	- Rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]	SWISS	259	cd06953	4507883,NP_000367|63054845,NP_001017535
7428	4033778	Disease	p.Ser38Pro	VAR_005670	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005670	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	No Domain	N/A	4507891,NP_000542
7428	4033778	Disease	p.Glu52Lys	VAR_005671	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005671	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	No Domain	N/A	4507891,NP_000542
7428	4033778	Disease	p.Ser65Leu	VAR_005672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005672	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	2	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Ser65Leu	VAR_005672	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005672	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	8	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Ser65Trp	VAR_005673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005673	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	2	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Ser65Trp	VAR_005673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005673	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	8	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Ser68Trp	VAR_005675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005675	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	5	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Ser68Trp	VAR_005675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005675	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	11	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Glu70Lys	VAR_005676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005676	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	7	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Glu70Lys	VAR_005676	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005676	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	13	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Val74Gly	VAR_005677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005677	rs5030803 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	12	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Val74Gly	VAR_005677	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005677	rs5030803 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	17	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Phe76Ile	VAR_005679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005679	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	14	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Phe76Ile	VAR_005679	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005679	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	19	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Phe76Leu	VAR_005680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005680	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	14	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Phe76Leu	VAR_005680	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005680	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	19	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Phe76Ser	VAR_005681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005681	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	14	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Phe76Ser	VAR_005681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005681	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	19	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Asn78His	VAR_005682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005682	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	16	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Asn78His	VAR_005682	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005682	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	21	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Asn78Ser	VAR_005683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005683	rs5030804 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	16	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Asn78Ser	VAR_005683	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005683	rs5030804 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	21	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Asn78Thr	VAR_005684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005684	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	16	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Asn78Thr	VAR_005684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005684	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	21	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Arg79Pro	VAR_005685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005685	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	17	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Arg79Pro	VAR_005685	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005685	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	22	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Ser80Ile	VAR_005686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005686	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	18	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Ser80Ile	VAR_005686	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005686	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	23	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Ser80Asn	VAR_005688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005688	rs5030805 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	18	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Ser80Asn	VAR_005688	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005688	rs5030805 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	23	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Ser80Arg	VAR_005687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005687	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	18	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Ser80Arg	VAR_005687	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005687	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	23	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Pro81Ser	VAR_005689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005689	rs5030806 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	19	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Pro81Ser	VAR_005689	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005689	rs5030806 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	24	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Arg82Pro	VAR_005690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005690	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	20	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Arg82Pro	VAR_005690	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005690	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	25	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Val84Leu	VAR_005692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005692	rs5030827 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	22	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Val84Leu	VAR_005692	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005692	rs5030827 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	27	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Pro86Ala	VAR_005693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005693	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	24	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Pro86Ala	VAR_005693	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005693	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	29	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Pro86His	VAR_008097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008097	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	24	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Pro86His	VAR_008097	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008097	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	29	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Pro86Leu	VAR_005694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005694	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	24	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Pro86Leu	VAR_005694	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005694	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	29	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Pro86Arg	VAR_005695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005695	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	24	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Pro86Arg	VAR_005695	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005695	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	29	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Pro86Ser	VAR_005696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005696	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	24	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Pro86Ser	VAR_005696	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005696	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	29	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Trp88Arg	VAR_005697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005697	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	26	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Trp88Arg	VAR_005697	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005697	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	31	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Trp88Ser	VAR_005698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005698	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	26	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Trp88Ser	VAR_005698	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005698	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	31	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Leu89Pro	VAR_005700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005700	rs5030807 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	27	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Leu89Pro	VAR_005700	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005700	rs5030807 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	32	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Gly93Cys	VAR_005703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005703	rs5030808 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	32	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Gly93Cys	VAR_005703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005703	rs5030808 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	36	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Gly93Asp	VAR_005704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005704	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	32	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Gly93Asp	VAR_005704	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005704	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	36	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Gly93Ser	VAR_005705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005705	rs5030808 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	32	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Gly93Ser	VAR_005705	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005705	rs5030808 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	36	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Gln96Pro	VAR_005706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005706	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	35	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Gln96Pro	VAR_005706	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005706	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	39	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Tyr98His	VAR_005707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005707	rs5030809 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	37	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Tyr98His	VAR_005707	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005707	rs5030809 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	41	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Leu101Gly	VAR_005708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005708	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	40	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Leu101Gly	VAR_005708	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005708	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	44	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Leu101Arg	VAR_005709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005709	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	40	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Leu101Arg	VAR_005709	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005709	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	44	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Thr105Pro	VAR_005711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005711	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	48	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Thr105Pro	VAR_005711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005711	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	48	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Arg107Pro	VAR_005713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005713	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	50	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Arg107Pro	VAR_005713	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005713	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	50	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Ser111Cys	VAR_005714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005714	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	54	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Ser111Cys	VAR_005714	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005714	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	54	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Ser111Asn	VAR_005715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005715	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	54	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Ser111Asn	VAR_005715	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005715	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	54	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Ser111Arg	VAR_005716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005716	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	54	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Ser111Arg	VAR_005716	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005716	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	54	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Tyr112His	VAR_005717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005717	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	55	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Tyr112His	VAR_005717	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005717	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	55	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Tyr112Asn	VAR_034992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034992	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	55	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Tyr112Asn	VAR_034992	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034992	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	55	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Gly114Cys	VAR_005718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005718	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	57	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Gly114Cys	VAR_005718	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005718	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	57	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Gly114Arg	VAR_005719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005719	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	57	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Gly114Arg	VAR_005719	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005719	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	57	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Gly114Ser	VAR_005720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005720	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	57	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Gly114Ser	VAR_005720	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005720	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	57	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.His115Gln	VAR_005723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005723	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	58	cd05468	4507891,NP_000542
7428	4033778	Disease	p.His115Gln	VAR_005723	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005723	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	58	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.His115Arg	VAR_008098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008098	rs5030812 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	58	cd05468	4507891,NP_000542
7428	4033778	Disease	p.His115Arg	VAR_008098	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008098	rs5030812 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	58	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.His115Tyr	VAR_005722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005722	rs5030811 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	58	cd05468	4507891,NP_000542
7428	4033778	Disease	p.His115Tyr	VAR_005722	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005722	rs5030811 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	58	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Leu116Val	VAR_005724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005724	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	59	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Leu116Val	VAR_005724	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005724	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	59	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Trp117Cys	VAR_005725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005725	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	60	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Trp117Cys	VAR_005725	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005725	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	60	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Leu118Pro	VAR_005726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005726	rs5030830 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	61	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Leu118Pro	VAR_005726	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005726	rs5030830 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	61	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Leu118Arg	VAR_005727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005727	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	61	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Leu118Arg	VAR_005727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005727	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	61	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Phe119Leu	VAR_005728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005728	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	62	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Phe119Leu	VAR_005728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005728	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	62	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Phe119Ser	VAR_005729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005729	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	62	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Phe119Ser	VAR_005729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005729	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	62	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Asp121Gly	VAR_005730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005730	rs5030832 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	64	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Asp121Gly	VAR_005730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005730	rs5030832 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	64	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Asp126Tyr	VAR_034994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034994	- Erythrocytosis familial type 2 (ECYT2) [MIM:263400]	SWISS	70	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Asp126Tyr	VAR_034994	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034994	- Erythrocytosis familial type 2 (ECYT2) [MIM:263400]	SWISS	69	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Leu128Phe	VAR_005731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005731	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	72	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Leu128Phe	VAR_005731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005731	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	71	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Val130Leu	VAR_005733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005733	- Erythrocytosis familial type 2 (ECYT2) [MIM:263400]	SWISS	74	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Val130Leu	VAR_005733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005733	- Erythrocytosis familial type 2 (ECYT2) [MIM:263400]	SWISS	73	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Val130Leu	VAR_005733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005733	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	74	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Val130Leu	VAR_005733	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005733	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	73	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Asn131Lys	VAR_005734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005734	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	75	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Asn131Lys	VAR_005734	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005734	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	74	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Asn131Thr	VAR_005735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005735	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	75	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Asn131Thr	VAR_005735	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005735	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	74	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Phe136Cys	VAR_005737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005737	rs5030833 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	91	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Phe136Cys	VAR_005737	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005737	rs5030833 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	79	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Phe136Ser	VAR_005736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005736	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	91	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Phe136Ser	VAR_005736	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005736	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	79	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Phe136Tyr	VAR_008099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008099	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	91	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Phe136Tyr	VAR_008099	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008099	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	79	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Asp143Glu	VAR_005738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005738	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	106	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Asp143Glu	VAR_005738	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005738	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	86	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Gln145His	VAR_008100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008100	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	108	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Gln145His	VAR_008100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008100	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	88	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Ala149Thr	VAR_005740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005740	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	112	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Ala149Thr	VAR_005740	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005740	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	92	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Pro154Leu	VAR_005741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005741	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	117	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Pro154Leu	VAR_005741	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005741	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	97	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Val155Gly	VAR_005742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005742	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	118	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Val155Gly	VAR_005742	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005742	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	98	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Val155Met	VAR_008101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008101	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	118	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Val155Met	VAR_008101	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008101	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	98	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Tyr156Cys	VAR_005743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005743	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	132	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Tyr156Cys	VAR_005743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005743	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	99	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Tyr156Asp	VAR_005744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005744	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	132	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Tyr156Asp	VAR_005744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005744	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	99	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Thr157Ile	VAR_005746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005746	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	133	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Thr157Ile	VAR_005746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005746	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	100	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Leu158Pro	VAR_005748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005748	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	134	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Leu158Pro	VAR_005748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005748	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	101	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Leu158Val	VAR_005749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005749	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	134	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Leu158Val	VAR_005749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005749	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	101	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Lys159Glu	VAR_005750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005750	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	135	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Lys159Glu	VAR_005750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005750	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	102	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Arg161Gly	VAR_005753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005753	rs5030818 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	137	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Arg161Gly	VAR_005753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005753	rs5030818 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	104	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Arg161Pro	VAR_005752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005752	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	137	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Arg161Pro	VAR_005752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005752	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	104	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Arg161Gln	VAR_005751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005751	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	137	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Arg161Gln	VAR_005751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005751	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	104	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Cys162Phe	VAR_005754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005754	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	138	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Cys162Phe	VAR_005754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005754	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	105	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Cys162Arg	VAR_005755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005755	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	138	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Cys162Arg	VAR_005755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005755	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	105	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Cys162Trp	VAR_005756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005756	rs5030622 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	138	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Cys162Trp	VAR_005756	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005756	rs5030622 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	105	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Cys162Tyr	VAR_005757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005757	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	138	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Cys162Tyr	VAR_005757	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005757	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	105	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Gln164His	VAR_008102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008102	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	140	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Gln164His	VAR_008102	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008102	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	107	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Gln164Arg	VAR_005758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005758	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	140	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Gln164Arg	VAR_005758	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005758	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	107	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Val166Asp	VAR_008103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008103	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	142	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Val166Asp	VAR_008103	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008103	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	109	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Val166Phe	VAR_005759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005759	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	142	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Val166Phe	VAR_005759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005759	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	109	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Arg167Gly	VAR_005760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005760	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	143	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Arg167Gly	VAR_005760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005760	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	110	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Arg167Gln	VAR_005761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005761	rs5030821 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	143	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Arg167Gln	VAR_005761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005761	rs5030821 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	110	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Arg167Trp	VAR_005762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005762	rs5030820 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	143	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Arg167Trp	VAR_005762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005762	rs5030820 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	110	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Val170Asp	VAR_005763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005763	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	146	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Val170Asp	VAR_005763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005763	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	113	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Val170Phe	VAR_005764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005764	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	146	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Val170Phe	VAR_005764	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005764	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	113	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Val170Gly	VAR_005765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005765	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	146	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Val170Gly	VAR_005765	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005765	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	113	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Tyr175Asp	VAR_005766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005766	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	172	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Tyr175Asp	VAR_005766	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005766	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	118	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Arg176Trp	VAR_008104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008104	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	173	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Arg176Trp	VAR_008104	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008104	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	119	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Leu178Pro	VAR_005768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005768	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	175	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Leu178Pro	VAR_005768	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005768	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	121	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Leu178Gln	VAR_005769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005769	rs5030822 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	175	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Leu178Gln	VAR_005769	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005769	rs5030822 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	121	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Ile180Val	VAR_005770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005770	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	177	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Ile180Val	VAR_005770	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005770	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	123	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Leu184Pro	VAR_005772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005772	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	197	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Leu184Pro	VAR_005772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005772	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	127	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Leu184Arg	VAR_005771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005771	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	197	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Leu184Arg	VAR_005771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005771	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	127	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Glu186Lys	VAR_005773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005773	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	199	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Glu186Lys	VAR_005773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005773	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	129	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Leu188Pro	VAR_005775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005775	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	201	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Leu188Pro	VAR_005775	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005775	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	131	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Leu188Gln	VAR_005776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005776	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	201	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Leu188Gln	VAR_005776	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005776	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	131	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Leu188Val	VAR_005777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005777	rs5030824 Erythrocytosis familial type 2 (ECYT2) [MIM:263400]	SWISS	201	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Leu188Val	VAR_005777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005777	rs5030824 Erythrocytosis familial type 2 (ECYT2) [MIM:263400]	SWISS	131	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Leu188Val	VAR_005777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005777	rs5030824 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	201	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Leu188Val	VAR_005777	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005777	rs5030824 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	131	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.His191Asp	VAR_034999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034999	rs28940301 Erythrocytosis familial type 2 (ECYT2) [MIM:263400]	SWISS	204	cd05468	4507891,NP_000542
7428	4033778	Disease	p.His191Asp	VAR_034999	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034999	rs28940301 Erythrocytosis familial type 2 (ECYT2) [MIM:263400]	SWISS	134	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Pro192Ser	VAR_035000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035000	rs28940300 Erythrocytosis familial type 2 (ECYT2) [MIM:263400]	SWISS	205	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Pro192Ser	VAR_035000	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_035000	rs28940300 Erythrocytosis familial type 2 (ECYT2) [MIM:263400]	SWISS	135	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Leu198Arg	VAR_005778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005778	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	226	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Leu198Arg	VAR_005778	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005778	- Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	141	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Arg200Trp	VAR_005779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005779	rs28940298 Erythrocytosis familial type 2 (ECYT2) [MIM:263400]	SWISS	228	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Arg200Trp	VAR_005779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005779	rs28940298 Erythrocytosis familial type 2 (ECYT2) [MIM:263400]	SWISS	143	pfam01847	4507891,NP_000542
7428	4033778	Disease	p.Arg200Trp	VAR_005779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005779	rs28940298 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	228	cd05468	4507891,NP_000542
7428	4033778	Disease	p.Arg200Trp	VAR_005779	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005779	rs28940298 Von Hippel-Lindau disease (VHLD) [MIM:193300]	SWISS	143	pfam01847	4507891,NP_000542
79001	62511226	Disease	p.Val29Leu	VAR_021821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021821	rs28940302 Coumarin resistance [MIM:122700]	SWISS	22	pfam07884	13124770,NP_076869
79001	62511226	Disease	p.Val29Leu	VAR_021821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021821	rs28940302 Coumarin resistance [MIM:122700]	SWISS	44	COG4243	13124770,NP_076869
79001	62511226	Disease	p.Val29Leu	VAR_021821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021821	rs28940302 Coumarin resistance [MIM:122700]	SWISS	25	smart00756	13124770,NP_076869
79001	62511226	Disease	p.Val45Ala	VAR_021822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021822	rs28940303 Coumarin resistance [MIM:122700]	SWISS	39	pfam07884	13124770,NP_076869
79001	62511226	Disease	p.Val45Ala	VAR_021822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021822	rs28940303 Coumarin resistance [MIM:122700]	SWISS	65	COG4243	13124770,NP_076869
79001	62511226	Disease	p.Val45Ala	VAR_021822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021822	rs28940303 Coumarin resistance [MIM:122700]	SWISS	45	smart00756	13124770,NP_076869
79001	62511226	Disease	p.Arg58Gly	VAR_021823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021823	rs28940304 Coumarin resistance [MIM:122700]	SWISS	57	pfam07884	13124770,NP_076869
79001	62511226	Disease	p.Arg58Gly	VAR_021823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021823	rs28940304 Coumarin resistance [MIM:122700]	SWISS	79	COG4243	13124770,NP_076869
79001	62511226	Disease	p.Arg58Gly	VAR_021823	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021823	rs28940304 Coumarin resistance [MIM:122700]	SWISS	64	smart00756	13124770,NP_076869
79001	62511226	Disease	p.Arg98Trp	VAR_021824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021824	- Combined deficiency of vitamin K-dependent clotting factors type 2 (VKCFD2) [MIM:607473]	SWISS	115	pfam07884	13124770,NP_076869
79001	62511226	Disease	p.Arg98Trp	VAR_021824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021824	- Combined deficiency of vitamin K-dependent clotting factors type 2 (VKCFD2) [MIM:607473]	SWISS	107	COG4243	13124770,NP_076869
79001	62511226	Disease	p.Arg98Trp	VAR_021824	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021824	- Combined deficiency of vitamin K-dependent clotting factors type 2 (VKCFD2) [MIM:607473]	SWISS	141	smart00756	13124770,NP_076869
79001	62511226	Disease	p.Leu128Arg	VAR_021825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021825	rs28940305 Coumarin resistance [MIM:122700]	SWISS	148	pfam07884	13124770,NP_076869
79001	62511226	Disease	p.Leu128Arg	VAR_021825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021825	rs28940305 Coumarin resistance [MIM:122700]	SWISS	152	COG4243	13124770,NP_076869
79001	62511226	Disease	p.Leu128Arg	VAR_021825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021825	rs28940305 Coumarin resistance [MIM:122700]	SWISS	186	smart00756	13124770,NP_076869
23230	71152975	Disease	p.Ile90Lys	VAR_038420	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038420	rs28939379 Chorea-acanthocytosis (CHAC) [MIM:200150]	SWISS	89	COG5043	66346674,NP_150648
23230	71152975	Disease	p.Ala1095Pro	VAR_058116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058116	- Chorea-acanthocytosis (CHAC) [MIM:200150]	SWISS	1127	COG5043	66346674,NP_150648
23230	71152975	Disease	p.Ser1452Pro	VAR_012803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012803	- Chorea-acanthocytosis (CHAC) [MIM:200150]	SWISS	1481	COG5043	66346674,NP_150648
23230	71152975	Disease	p.Trp2460Arg	VAR_058120	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058120	- Chorea-acanthocytosis (CHAC) [MIM:200150]	SWISS	2511	COG5043	66346674,NP_150648
23230	71152975	Disease	p.Tyr2721Cys	VAR_038421	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038421	- Chorea-acanthocytosis (CHAC) [MIM:200150]	SWISS	2735	COG5043	66346674,NP_150648
157680	308153515	Disease	p.Leu2193Arg	VAR_017759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017759	- Cohen syndrome (COH1) [MIM:216550]	SWISS	No Domain	N/A	35493713,NP_060360
157680	308153515	Disease	p.Tyr2341Cys	VAR_038422	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038422	- Cohen syndrome (COH1) [MIM:216550]	SWISS	No Domain	N/A	35493713,NP_060360
157680	308153515	Disease	p.Gly2645Asp	VAR_038423	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038423	- Cohen syndrome (COH1) [MIM:216550]	SWISS	No Domain	N/A	35493713,NP_060360
157680	308153515	Disease	p.Ser2773Leu	VAR_058754	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058754	- Cohen syndrome (COH1) [MIM:216550]	SWISS	No Domain	N/A	35493713,NP_060360
157680	308153515	Disease	p.Ile2820Thr	VAR_058755	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058755	- Cohen syndrome (COH1) [MIM:216550]	SWISS	No Domain	N/A	35493713,NP_060360
157680	308153515	Disease	p.Asn2993Ser	VAR_038424	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_038424	rs28940272 Cohen syndrome (COH1) [MIM:216550]	SWISS	No Domain	N/A	35493713,NP_060360
26276	23396926	Disease	p.Leu30Pro	VAR_018983	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_018983	- Arthrogryposis-renal dysfunction-cholestasis syndrome type 1 (ARCS1) [MIM:208085]	SWISS	18	COG5158	NULL
26276	23396926	Disease	p.Ser243Phe	VAR_057901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057901	- Arthrogryposis-renal dysfunction-cholestasis syndrome type 1 (ARCS1) [MIM:208085]	SWISS	731	pfam00995	NULL
26276	23396926	Disease	p.Ser243Phe	VAR_057901	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_057901	- Arthrogryposis-renal dysfunction-cholestasis syndrome type 1 (ARCS1) [MIM:208085]	SWISS	293	COG5158	NULL
30813	25009572	Disease	p.Asp144Glu	VAR_014243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014243	- Keratoconus [MIM:148300]	SWISS	31	COG5576	11056038,NP_055403
30813	25009572	Disease	p.Asp144Glu	VAR_014243	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014243	- Posterior polymorphous corneal dystrophy type 1 (PPCD1) [MIM:122000]	SWISS	31	COG5576	11056038,NP_055403
30813	25009572	Disease	p.Leu159Met	VAR_014244	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014244	- Keratoconus [MIM:148300]	SWISS	45	COG5576	11056038,NP_055403
30813	25009572	Disease	p.Gly160Asp	VAR_014245	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014245	- Posterior polymorphous corneal dystrophy type 1 (PPCD1) [MIM:122000]	SWISS	46	COG5576	11056038,NP_055403
30813	25009572	Disease	p.Arg166Trp	VAR_014246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014246	- Keratoconus [MIM:148300]	SWISS	2	pfam00046	11056038,NP_055403
30813	25009572	Disease	p.Arg166Trp	VAR_014246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014246	- Keratoconus [MIM:148300]	SWISS	2	smart00389	11056038,NP_055403
30813	25009572	Disease	p.Arg166Trp	VAR_014246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014246	- Keratoconus [MIM:148300]	SWISS	2	cd00086	11056038,NP_055403
30813	25009572	Disease	p.Arg166Trp	VAR_014246	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014246	- Keratoconus [MIM:148300]	SWISS	53	COG5576	11056038,NP_055403
30813	25009572	Disease	p.Gln175His	VAR_063100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063100	- Keratoconus [MIM:148300]	SWISS	11	pfam00046	11056038,NP_055403
30813	25009572	Disease	p.Gln175His	VAR_063100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063100	- Keratoconus [MIM:148300]	SWISS	16	smart00389	11056038,NP_055403
30813	25009572	Disease	p.Gln175His	VAR_063100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063100	- Keratoconus [MIM:148300]	SWISS	11	cd00086	11056038,NP_055403
30813	25009572	Disease	p.Gln175His	VAR_063100	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063100	- Keratoconus [MIM:148300]	SWISS	62	COG5576	11056038,NP_055403
30813	25009572	Disease	p.His244Arg	VAR_014247	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014247	- Keratoconus [MIM:148300]	SWISS	142	COG5576	11056038,NP_055403
338917	17374365	Disease	p.Arg200Pro	VAR_011618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011618	- Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092]	SWISS	62	pfam00046	34365783,NP_878314
338917	17374365	Disease	p.Arg200Pro	VAR_011618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011618	- Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092]	SWISS	92	smart00389	34365783,NP_878314
338917	17374365	Disease	p.Arg200Pro	VAR_011618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011618	- Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092]	SWISS	84	cd00086	34365783,NP_878314
338917	17374365	Disease	p.Arg200Pro	VAR_011618	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011618	- Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092]	SWISS	105	COG5576	34365783,NP_878314
338917	17374365	Disease	p.Arg200Gln	VAR_011619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011619	- Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092]	SWISS	62	pfam00046	34365783,NP_878314
338917	17374365	Disease	p.Arg200Gln	VAR_011619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011619	- Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092]	SWISS	92	smart00389	34365783,NP_878314
338917	17374365	Disease	p.Arg200Gln	VAR_011619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011619	- Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092]	SWISS	84	cd00086	34365783,NP_878314
338917	17374365	Disease	p.Arg200Gln	VAR_011619	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011619	- Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092]	SWISS	105	COG5576	34365783,NP_878314
338917	17374365	Disease	p.Arg227Trp	VAR_029357	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029357	- Microphthalmia isolated type 2 (MCOP2) [MIM:610093]	SWISS	146	COG5576	34365783,NP_878314
7450	269849730	Disease	p.Arg273Trp	VAR_010242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010242	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	90	smart00832	NULL
7450	269849730	Disease	p.Arg273Trp	VAR_010242	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_010242	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	72	pfam08742	NULL
7450	269849730	Disease	p.Trp377Cys	VAR_005782	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005782	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	46	smart00215	NULL
7450	269849730	Disease	p.Asn528Ser	VAR_005783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005783	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	205	pfam00094	NULL
7450	269849730	Disease	p.Asn528Ser	VAR_005783	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005783	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	263	smart00216	NULL
7450	269849730	Disease	p.Gly550Arg	VAR_005784	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005784	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	No Domain	N/A	NULL
7450	269849730	Disease	p.Cys788Tyr	VAR_009141	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009141	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	22	pfam01826	NULL
7450	269849730	Disease	p.Cys1060Arg	VAR_028446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028446	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	8	smart00832	NULL
7450	269849730	Disease	p.Cys1060Arg	VAR_028446	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_028446	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	8	pfam08742	NULL
7450	269849730	Disease	p.Pro1266Leu	VAR_005791	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005791	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	No Domain	N/A	NULL
7450	269849730	Disease	p.His1268Asp	VAR_005792	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005792	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	No Domain	N/A	NULL
7450	269849730	Disease	p.Cys1272Arg	VAR_005793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005793	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	No Domain	N/A	NULL
7450	269849730	Disease	p.Arg1306Trp	VAR_005794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005794	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	42	pfam00092	NULL
7450	269849730	Disease	p.Arg1306Trp	VAR_005794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005794	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	42	cd00198	NULL
7450	269849730	Disease	p.Arg1306Trp	VAR_005794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005794	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	43	cd01450	NULL
7450	269849730	Disease	p.Arg1306Trp	VAR_005794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005794	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	79	smart00327	NULL
7450	269849730	Disease	p.Arg1308Cys	VAR_005795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005795	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	44	pfam00092	NULL
7450	269849730	Disease	p.Arg1308Cys	VAR_005795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005795	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	44	cd00198	NULL
7450	269849730	Disease	p.Arg1308Cys	VAR_005795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005795	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	45	cd01450	NULL
7450	269849730	Disease	p.Arg1308Cys	VAR_005795	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005795	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	87	smart00327	NULL
7450	269849730	Disease	p.Trp1313Cys	VAR_005796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005796	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	56	pfam00092	NULL
7450	269849730	Disease	p.Trp1313Cys	VAR_005796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005796	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	62	cd00198	NULL
7450	269849730	Disease	p.Trp1313Cys	VAR_005796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005796	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	63	cd01450	NULL
7450	269849730	Disease	p.Trp1313Cys	VAR_005796	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005796	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	120	smart00327	NULL
7450	269849730	Disease	p.Val1314Leu	VAR_005797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005797	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	57	pfam00092	NULL
7450	269849730	Disease	p.Val1314Leu	VAR_005797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005797	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	63	cd00198	NULL
7450	269849730	Disease	p.Val1314Leu	VAR_005797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005797	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	64	cd01450	NULL
7450	269849730	Disease	p.Val1314Leu	VAR_005797	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005797	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	127	smart00327	NULL
7450	269849730	Disease	p.Val1316Met	VAR_005798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005798	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	59	pfam00092	NULL
7450	269849730	Disease	p.Val1316Met	VAR_005798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005798	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	65	cd00198	NULL
7450	269849730	Disease	p.Val1316Met	VAR_005798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005798	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	66	cd01450	NULL
7450	269849730	Disease	p.Val1316Met	VAR_005798	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005798	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	129	smart00327	NULL
7450	269849730	Disease	p.Val1318Leu	VAR_005799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005799	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	61	pfam00092	NULL
7450	269849730	Disease	p.Val1318Leu	VAR_005799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005799	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	67	cd00198	NULL
7450	269849730	Disease	p.Val1318Leu	VAR_005799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005799	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	68	cd01450	NULL
7450	269849730	Disease	p.Val1318Leu	VAR_005799	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005799	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	131	smart00327	NULL
7450	269849730	Disease	p.Gly1324Ser	VAR_005800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005800	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	67	pfam00092	NULL
7450	269849730	Disease	p.Gly1324Ser	VAR_005800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005800	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	84	cd00198	NULL
7450	269849730	Disease	p.Gly1324Ser	VAR_005800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005800	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	84	cd01450	NULL
7450	269849730	Disease	p.Gly1324Ser	VAR_005800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005800	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	158	smart00327	NULL
7450	269849730	Disease	p.Arg1341Gln	VAR_005801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005801	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	98	pfam00092	NULL
7450	269849730	Disease	p.Arg1341Gln	VAR_005801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005801	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	154	cd00198	NULL
7450	269849730	Disease	p.Arg1341Gln	VAR_005801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005801	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	109	cd01450	NULL
7450	269849730	Disease	p.Arg1341Gln	VAR_005801	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005801	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	221	smart00327	NULL
7450	269849730	Disease	p.Arg1374Cys	VAR_005802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005802	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	153	pfam00092	NULL
7450	269849730	Disease	p.Arg1374Cys	VAR_005802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005802	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	198	cd00198	NULL
7450	269849730	Disease	p.Arg1374Cys	VAR_005802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005802	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	173	cd01450	NULL
7450	269849730	Disease	p.Arg1374Cys	VAR_005802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005802	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	329	smart00327	NULL
7450	269849730	Disease	p.Arg1374His	VAR_005803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005803	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	153	pfam00092	NULL
7450	269849730	Disease	p.Arg1374His	VAR_005803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005803	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	198	cd00198	NULL
7450	269849730	Disease	p.Arg1374His	VAR_005803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005803	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	173	cd01450	NULL
7450	269849730	Disease	p.Arg1374His	VAR_005803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005803	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	329	smart00327	NULL
7450	269849730	Disease	p.Leu1460Val	VAR_005806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005806	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	No Domain	N/A	NULL
7450	269849730	Disease	p.Ala1461Val	VAR_005807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005807	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	No Domain	N/A	NULL
7450	269849730	Disease	p.Phe1514Cys	VAR_005808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005808	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	58	smart00327	NULL
7450	269849730	Disease	p.Phe1514Cys	VAR_005808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005808	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	18	cd01481	NULL
7450	269849730	Disease	p.Phe1514Cys	VAR_005808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005808	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	17	cd01476	NULL
7450	269849730	Disease	p.Phe1514Cys	VAR_005808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005808	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	24	cd01472	NULL
7450	269849730	Disease	p.Phe1514Cys	VAR_005808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005808	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	19	cd01471	NULL
7450	269849730	Disease	p.Phe1514Cys	VAR_005808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005808	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	29	cd00198	NULL
7450	269849730	Disease	p.Phe1514Cys	VAR_005808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005808	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	26	cd01450	NULL
7450	269849730	Disease	p.Phe1514Cys	VAR_005808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005808	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	27	pfam00092	NULL
7450	269849730	Disease	p.Phe1514Cys	VAR_005808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005808	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	19	cd01482	NULL
7450	269849730	Disease	p.Leu1540Pro	VAR_005809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005809	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	138	smart00327	NULL
7450	269849730	Disease	p.Leu1540Pro	VAR_005809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005809	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	44	cd01481	NULL
7450	269849730	Disease	p.Leu1540Pro	VAR_005809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005809	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	44	cd01476	NULL
7450	269849730	Disease	p.Leu1540Pro	VAR_005809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005809	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	63	cd01472	NULL
7450	269849730	Disease	p.Leu1540Pro	VAR_005809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005809	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	45	cd01471	NULL
7450	269849730	Disease	p.Leu1540Pro	VAR_005809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005809	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	68	cd00198	NULL
7450	269849730	Disease	p.Leu1540Pro	VAR_005809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005809	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	69	cd01450	NULL
7450	269849730	Disease	p.Leu1540Pro	VAR_005809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005809	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	62	pfam00092	NULL
7450	269849730	Disease	p.Leu1540Pro	VAR_005809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005809	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	47	cd01482	NULL
7450	269849730	Disease	p.Arg1597Gly	VAR_005811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005811	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	329	smart00327	NULL
7450	269849730	Disease	p.Arg1597Gly	VAR_005811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005811	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	101	cd01481	NULL
7450	269849730	Disease	p.Arg1597Gly	VAR_005811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005811	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	108	cd01476	NULL
7450	269849730	Disease	p.Arg1597Gly	VAR_005811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005811	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	137	cd01472	NULL
7450	269849730	Disease	p.Arg1597Gly	VAR_005811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005811	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	106	cd01471	NULL
7450	269849730	Disease	p.Arg1597Gly	VAR_005811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005811	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	211	cd00198	NULL
7450	269849730	Disease	p.Arg1597Gly	VAR_005811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005811	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	173	cd01450	NULL
7450	269849730	Disease	p.Arg1597Gly	VAR_005811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005811	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	153	pfam00092	NULL
7450	269849730	Disease	p.Arg1597Gly	VAR_005811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005811	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	106	cd01482	NULL
7450	269849730	Disease	p.Arg1597Gln	VAR_005812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005812	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	329	smart00327	NULL
7450	269849730	Disease	p.Arg1597Gln	VAR_005812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005812	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	101	cd01481	NULL
7450	269849730	Disease	p.Arg1597Gln	VAR_005812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005812	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	108	cd01476	NULL
7450	269849730	Disease	p.Arg1597Gln	VAR_005812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005812	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	137	cd01472	NULL
7450	269849730	Disease	p.Arg1597Gln	VAR_005812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005812	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	106	cd01471	NULL
7450	269849730	Disease	p.Arg1597Gln	VAR_005812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005812	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	211	cd00198	NULL
7450	269849730	Disease	p.Arg1597Gln	VAR_005812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005812	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	173	cd01450	NULL
7450	269849730	Disease	p.Arg1597Gln	VAR_005812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005812	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	153	pfam00092	NULL
7450	269849730	Disease	p.Arg1597Gln	VAR_005812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005812	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	106	cd01482	NULL
7450	269849730	Disease	p.Arg1597Trp	VAR_005813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005813	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	329	smart00327	NULL
7450	269849730	Disease	p.Arg1597Trp	VAR_005813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005813	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	101	cd01481	NULL
7450	269849730	Disease	p.Arg1597Trp	VAR_005813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005813	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	108	cd01476	NULL
7450	269849730	Disease	p.Arg1597Trp	VAR_005813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005813	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	137	cd01472	NULL
7450	269849730	Disease	p.Arg1597Trp	VAR_005813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005813	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	106	cd01471	NULL
7450	269849730	Disease	p.Arg1597Trp	VAR_005813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005813	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	211	cd00198	NULL
7450	269849730	Disease	p.Arg1597Trp	VAR_005813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005813	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	173	cd01450	NULL
7450	269849730	Disease	p.Arg1597Trp	VAR_005813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005813	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	153	pfam00092	NULL
7450	269849730	Disease	p.Arg1597Trp	VAR_005813	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005813	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	106	cd01482	NULL
7450	269849730	Disease	p.Val1607Asp	VAR_005814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005814	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	395	smart00327	NULL
7450	269849730	Disease	p.Val1607Asp	VAR_005814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005814	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	113	cd01481	NULL
7450	269849730	Disease	p.Val1607Asp	VAR_005814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005814	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	119	cd01476	NULL
7450	269849730	Disease	p.Val1607Asp	VAR_005814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005814	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	147	cd01472	NULL
7450	269849730	Disease	p.Val1607Asp	VAR_005814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005814	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	116	cd01471	NULL
7450	269849730	Disease	p.Val1607Asp	VAR_005814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005814	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	221	cd00198	NULL
7450	269849730	Disease	p.Val1607Asp	VAR_005814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005814	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	183	cd01450	NULL
7450	269849730	Disease	p.Val1607Asp	VAR_005814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005814	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	166	pfam00092	NULL
7450	269849730	Disease	p.Val1607Asp	VAR_005814	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005814	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	116	cd01482	NULL
7450	269849730	Disease	p.Gly1609Arg	VAR_005815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005815	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	423	smart00327	NULL
7450	269849730	Disease	p.Gly1609Arg	VAR_005815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005815	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	115	cd01481	NULL
7450	269849730	Disease	p.Gly1609Arg	VAR_005815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005815	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	127	cd01476	NULL
7450	269849730	Disease	p.Gly1609Arg	VAR_005815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005815	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	149	cd01472	NULL
7450	269849730	Disease	p.Gly1609Arg	VAR_005815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005815	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	119	cd01471	NULL
7450	269849730	Disease	p.Gly1609Arg	VAR_005815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005815	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	223	cd00198	NULL
7450	269849730	Disease	p.Gly1609Arg	VAR_005815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005815	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	185	cd01450	NULL
7450	269849730	Disease	p.Gly1609Arg	VAR_005815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005815	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	168	pfam00092	NULL
7450	269849730	Disease	p.Gly1609Arg	VAR_005815	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005815	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	118	cd01482	NULL
7450	269849730	Disease	p.Ser1613Pro	VAR_005816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005816	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	501	smart00327	NULL
7450	269849730	Disease	p.Ser1613Pro	VAR_005816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005816	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	119	cd01481	NULL
7450	269849730	Disease	p.Ser1613Pro	VAR_005816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005816	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	134	cd01476	NULL
7450	269849730	Disease	p.Ser1613Pro	VAR_005816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005816	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	159	cd01472	NULL
7450	269849730	Disease	p.Ser1613Pro	VAR_005816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005816	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	131	cd01471	NULL
7450	269849730	Disease	p.Ser1613Pro	VAR_005816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005816	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	227	cd00198	NULL
7450	269849730	Disease	p.Ser1613Pro	VAR_005816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005816	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	189	cd01450	NULL
7450	269849730	Disease	p.Ser1613Pro	VAR_005816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005816	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	177	pfam00092	NULL
7450	269849730	Disease	p.Ser1613Pro	VAR_005816	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005816	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	129	cd01482	NULL
7450	269849730	Disease	p.Ile1628Thr	VAR_005817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005817	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	531	smart00327	NULL
7450	269849730	Disease	p.Ile1628Thr	VAR_005817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005817	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	137	cd01481	NULL
7450	269849730	Disease	p.Ile1628Thr	VAR_005817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005817	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	149	cd01476	NULL
7450	269849730	Disease	p.Ile1628Thr	VAR_005817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005817	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	182	cd01472	NULL
7450	269849730	Disease	p.Ile1628Thr	VAR_005817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005817	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	144	cd01471	NULL
7450	269849730	Disease	p.Ile1628Thr	VAR_005817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005817	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	289	cd00198	NULL
7450	269849730	Disease	p.Ile1628Thr	VAR_005817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005817	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	242	cd01450	NULL
7450	269849730	Disease	p.Ile1628Thr	VAR_005817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005817	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	215	pfam00092	NULL
7450	269849730	Disease	p.Ile1628Thr	VAR_005817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005817	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	142	cd01482	NULL
7450	269849730	Disease	p.Glu1638Lys	VAR_005818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005818	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	620	smart00327	NULL
7450	269849730	Disease	p.Glu1638Lys	VAR_005818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005818	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	148	cd01481	NULL
7450	269849730	Disease	p.Glu1638Lys	VAR_005818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005818	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	163	cd01476	NULL
7450	269849730	Disease	p.Glu1638Lys	VAR_005818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005818	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	194	cd01472	NULL
7450	269849730	Disease	p.Glu1638Lys	VAR_005818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005818	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	154	cd01471	NULL
7450	269849730	Disease	p.Glu1638Lys	VAR_005818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005818	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	327	cd00198	NULL
7450	269849730	Disease	p.Glu1638Lys	VAR_005818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005818	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	261	cd01450	NULL
7450	269849730	Disease	p.Glu1638Lys	VAR_005818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005818	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	246	pfam00092	NULL
7450	269849730	Disease	p.Glu1638Lys	VAR_005818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005818	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	152	cd01482	NULL
7450	269849730	Disease	p.Pro1648Ser	VAR_005819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005819	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	635	smart00327	NULL
7450	269849730	Disease	p.Pro1648Ser	VAR_005819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005819	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	159	cd01481	NULL
7450	269849730	Disease	p.Pro1648Ser	VAR_005819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005819	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	173	cd01476	NULL
7450	269849730	Disease	p.Pro1648Ser	VAR_005819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005819	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	204	cd01472	NULL
7450	269849730	Disease	p.Pro1648Ser	VAR_005819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005819	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	188	cd01471	NULL
7450	269849730	Disease	p.Pro1648Ser	VAR_005819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005819	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	350	cd00198	NULL
7450	269849730	Disease	p.Pro1648Ser	VAR_005819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005819	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	284	cd01450	NULL
7450	269849730	Disease	p.Pro1648Ser	VAR_005819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005819	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	262	pfam00092	NULL
7450	269849730	Disease	p.Pro1648Ser	VAR_005819	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005819	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	162	cd01482	NULL
7450	269849730	Disease	p.Val1665Glu	VAR_005820	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005820	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	672	smart00327	NULL
7450	269849730	Disease	p.Pro2063Ser	VAR_009142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009142	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	177	pfam00094	NULL
7450	269849730	Disease	p.Pro2063Ser	VAR_009142	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009142	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	226	smart00216	NULL
7450	269849730	Disease	p.Cys2362Phe	VAR_009143	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009143	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	No Domain	N/A	NULL
7450	269849730	Disease	p.Asn2546Tyr	VAR_009144	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009144	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	No Domain	N/A	NULL
7450	269849730	Disease	p.Cys2739Tyr	VAR_005821	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005821	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	13	smart00041	NULL
7450	269849730	Disease	p.Cys2773Arg	VAR_005822	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005822	- Von Willebrand disease (VWD) [MIM:277480]	SWISS	99	smart00041	NULL
7454	1722836	Disease	p.Glu31Lys	VAR_005825	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005825	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	No Domain	N/A	4507909,NP_000368
7454	1722836	Disease	p.Cys43Trp	VAR_008105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008105	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	5	smart00461	4507909,NP_000368
7454	1722836	Disease	p.Cys43Trp	VAR_008105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008105	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	8	pfam00568	4507909,NP_000368
7454	1722836	Disease	p.Cys43Trp	VAR_008105	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008105	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	4	cd01205	4507909,NP_000368
7454	1722836	Disease	p.Thr45Met	VAR_008106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008106	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	7	smart00461	4507909,NP_000368
7454	1722836	Disease	p.Thr45Met	VAR_008106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008106	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	11	pfam00568	4507909,NP_000368
7454	1722836	Disease	p.Thr45Met	VAR_008106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008106	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	6	cd01205	4507909,NP_000368
7454	1722836	Disease	p.Thr45Met	VAR_008106	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008106	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	3	cd00837	4507909,NP_000368
7454	1722836	Disease	p.Gln52His	VAR_012710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012710	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	14	smart00461	4507909,NP_000368
7454	1722836	Disease	p.Gln52His	VAR_012710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012710	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	18	pfam00568	4507909,NP_000368
7454	1722836	Disease	p.Gln52His	VAR_012710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012710	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	13	cd01205	4507909,NP_000368
7454	1722836	Disease	p.Gln52His	VAR_012710	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012710	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	10	cd00837	4507909,NP_000368
7454	1722836	Disease	p.Pro58Leu	VAR_022806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022806	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	20	smart00461	4507909,NP_000368
7454	1722836	Disease	p.Pro58Leu	VAR_022806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022806	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	24	pfam00568	4507909,NP_000368
7454	1722836	Disease	p.Pro58Leu	VAR_022806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022806	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	19	cd01205	4507909,NP_000368
7454	1722836	Disease	p.Pro58Leu	VAR_022806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022806	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	16	cd00837	4507909,NP_000368
7454	1722836	Disease	p.Gly70Trp	VAR_012711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012711	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	32	smart00461	4507909,NP_000368
7454	1722836	Disease	p.Gly70Trp	VAR_012711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012711	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	41	pfam00568	4507909,NP_000368
7454	1722836	Disease	p.Gly70Trp	VAR_012711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012711	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	32	cd01205	4507909,NP_000368
7454	1722836	Disease	p.Gly70Trp	VAR_012711	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_012711	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	33	cd00837	4507909,NP_000368
7454	1722836	Disease	p.Cys73Arg	VAR_008107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008107	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	38	smart00461	4507909,NP_000368
7454	1722836	Disease	p.Cys73Arg	VAR_008107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008107	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	44	pfam00568	4507909,NP_000368
7454	1722836	Disease	p.Cys73Arg	VAR_008107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008107	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	35	cd01205	4507909,NP_000368
7454	1722836	Disease	p.Cys73Arg	VAR_008107	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008107	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	36	cd00837	4507909,NP_000368
7454	1722836	Disease	p.Ser82Pro	VAR_005829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005829	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	53	smart00461	4507909,NP_000368
7454	1722836	Disease	p.Ser82Pro	VAR_005829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005829	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	53	pfam00568	4507909,NP_000368
7454	1722836	Disease	p.Ser82Pro	VAR_005829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005829	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	44	cd01205	4507909,NP_000368
7454	1722836	Disease	p.Ser82Pro	VAR_005829	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005829	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	51	cd00837	4507909,NP_000368
7454	1722836	Disease	p.Phe84Leu	VAR_008109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008109	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	55	smart00461	4507909,NP_000368
7454	1722836	Disease	p.Phe84Leu	VAR_008109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008109	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	55	pfam00568	4507909,NP_000368
7454	1722836	Disease	p.Phe84Leu	VAR_008109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008109	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	46	cd01205	4507909,NP_000368
7454	1722836	Disease	p.Phe84Leu	VAR_008109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008109	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	53	cd00837	4507909,NP_000368
7454	1722836	Disease	p.Arg86Cys	VAR_005832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005832	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	57	smart00461	4507909,NP_000368
7454	1722836	Disease	p.Arg86Cys	VAR_005832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005832	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	57	pfam00568	4507909,NP_000368
7454	1722836	Disease	p.Arg86Cys	VAR_005832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005832	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	48	cd01205	4507909,NP_000368
7454	1722836	Disease	p.Arg86Cys	VAR_005832	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005832	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	55	cd00837	4507909,NP_000368
7454	1722836	Disease	p.Arg86His	VAR_005830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005830	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	57	smart00461	4507909,NP_000368
7454	1722836	Disease	p.Arg86His	VAR_005830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005830	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	57	pfam00568	4507909,NP_000368
7454	1722836	Disease	p.Arg86His	VAR_005830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005830	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	48	cd01205	4507909,NP_000368
7454	1722836	Disease	p.Arg86His	VAR_005830	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005830	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	55	cd00837	4507909,NP_000368
7454	1722836	Disease	p.Arg86Leu	VAR_005831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005831	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	57	smart00461	4507909,NP_000368
7454	1722836	Disease	p.Arg86Leu	VAR_005831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005831	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	57	pfam00568	4507909,NP_000368
7454	1722836	Disease	p.Arg86Leu	VAR_005831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005831	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	48	cd01205	4507909,NP_000368
7454	1722836	Disease	p.Arg86Leu	VAR_005831	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005831	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	55	cd00837	4507909,NP_000368
7454	1722836	Disease	p.Gly89Asp	VAR_008110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008110	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	60	smart00461	4507909,NP_000368
7454	1722836	Disease	p.Gly89Asp	VAR_008110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008110	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	60	pfam00568	4507909,NP_000368
7454	1722836	Disease	p.Gly89Asp	VAR_008110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008110	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	51	cd01205	4507909,NP_000368
7454	1722836	Disease	p.Gly89Asp	VAR_008110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_008110	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	58	cd00837	4507909,NP_000368
7454	1722836	Disease	p.Trp97Cys	VAR_005833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005833	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	72	smart00461	4507909,NP_000368
7454	1722836	Disease	p.Trp97Cys	VAR_005833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005833	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	69	pfam00568	4507909,NP_000368
7454	1722836	Disease	p.Trp97Cys	VAR_005833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005833	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	61	cd01205	4507909,NP_000368
7454	1722836	Disease	p.Trp97Cys	VAR_005833	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005833	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	71	cd00837	4507909,NP_000368
7454	1722836	Disease	p.Glu131Lys	VAR_005834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005834	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	122	smart00461	4507909,NP_000368
7454	1722836	Disease	p.Glu131Lys	VAR_005834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005834	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	105	pfam00568	4507909,NP_000368
7454	1722836	Disease	p.Glu131Lys	VAR_005834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005834	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	102	cd01205	4507909,NP_000368
7454	1722836	Disease	p.Glu131Lys	VAR_005834	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005834	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	113	cd00837	4507909,NP_000368
7454	1722836	Disease	p.Glu133Lys	VAR_005835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005835	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	124	smart00461	4507909,NP_000368
7454	1722836	Disease	p.Glu133Lys	VAR_005835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005835	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	107	pfam00568	4507909,NP_000368
7454	1722836	Disease	p.Glu133Lys	VAR_005835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005835	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	104	cd01205	4507909,NP_000368
7454	1722836	Disease	p.Glu133Lys	VAR_005835	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005835	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	115	cd00837	4507909,NP_000368
7454	1722836	Disease	p.Ala134Thr	VAR_022807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022807	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	125	smart00461	4507909,NP_000368
7454	1722836	Disease	p.Ala134Thr	VAR_022807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022807	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	108	pfam00568	4507909,NP_000368
7454	1722836	Disease	p.Ala134Thr	VAR_022807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022807	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	105	cd01205	4507909,NP_000368
7454	1722836	Disease	p.Ala134Thr	VAR_022807	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_022807	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	116	cd00837	4507909,NP_000368
7454	1722836	Disease	p.Gly187Cys	VAR_005836	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005836	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	No Domain	N/A	4507909,NP_000368
7454	1722836	Disease	p.Leu270Pro	VAR_033256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033256	rs28936079 X-linked severe congenital neutropenia (XLN) [MIM:300299]	SWISS	37	smart00285	4507909,NP_000368
7454	1722836	Disease	p.Leu270Pro	VAR_033256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033256	rs28936079 X-linked severe congenital neutropenia (XLN) [MIM:300299]	SWISS	39	pfam00786	4507909,NP_000368
7454	1722836	Disease	p.Leu270Pro	VAR_033256	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_033256	rs28936079 X-linked severe congenital neutropenia (XLN) [MIM:300299]	SWISS	40	cd00132	4507909,NP_000368
7454	1722836	Disease	p.Lys476Glu	VAR_005838	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005838	- Wiskott-Aldrich syndrome (WAS) [MIM:301000]	SWISS	No Domain	N/A	4507909,NP_000368
134430	46577504	Disease	p.Asn355Ser	VAR_025966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025966	- Primary open angle glaucoma type 1G (GLC1G) [MIM:609887]	SWISS	58	cd00200	21281677,NP_644810
134430	46577504	Disease	p.Asn355Ser	VAR_025966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025966	- Primary open angle glaucoma type 1G (GLC1G) [MIM:609887]	SWISS	488	COG2319	21281677,NP_644810
134430	46577504	Disease	p.Ala449Thr	VAR_025967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025967	rs35703638 Primary open angle glaucoma type 1G (GLC1G) [MIM:609887]	SWISS	288	cd00200	21281677,NP_644810
134430	46577504	Disease	p.Ala449Thr	VAR_025967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025967	rs35703638 Primary open angle glaucoma type 1G (GLC1G) [MIM:609887]	SWISS	705	COG2319	21281677,NP_644810
134430	46577504	Disease	p.Arg529Gln	VAR_025968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025968	- Primary open angle glaucoma type 1G (GLC1G) [MIM:609887]	SWISS	483	cd00200	21281677,NP_644810
134430	46577504	Disease	p.Arg529Gln	VAR_025968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025968	- Primary open angle glaucoma type 1G (GLC1G) [MIM:609887]	SWISS	854	COG2319	21281677,NP_644810
134430	46577504	Disease	p.Asp658Gly	VAR_025969	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025969	rs34595252 Primary open angle glaucoma type 1G (GLC1G) [MIM:609887]	SWISS	1262	COG2319	21281677,NP_644810
7466	6136319	Disease	p.Ala58Val	VAR_011305	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011305	- Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Tyr110Asn	VAR_029499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029499	- Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Ala126Thr	VAR_011306	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011306	- Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Ala133Thr	VAR_014034	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014034	- Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Glu169Lys	VAR_009109	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009109	- Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Pro292Ser	VAR_009110	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009110	- Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Ile296Ser	VAR_009111	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009111	- Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Gly437Arg	VAR_009114	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009114	- Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Ser443Ile	VAR_011308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011308	- Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Arg457Ser	VAR_029502	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029502	- Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Pro504Leu	VAR_005842	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005842	rs28937892 Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Arg629Trp	VAR_029505	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_029505	- Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Lys634Thr	VAR_032963	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032963	- Deafness autosomal dominant type 6 (DFNA6) [MIM:600965]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Tyr669Cys	VAR_014038	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_014038	- Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Cys690Arg	VAR_009116	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009116	- Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Gly695Val	VAR_005844	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005844	rs28937891 Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Thr699Met	VAR_032964	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032964	rs28937894 Deafness autosomal dominant type 6 (DFNA6) [MIM:600965]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Trp700Cys	VAR_009117	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009117	- Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Ala716Thr	VAR_032965	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032965	rs28937893 Deafness autosomal dominant type 6 (DFNA6) [MIM:600965]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Pro724Leu	VAR_005845	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005845	rs28937890 Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Gly736Ser	VAR_009118	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009118	- Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Val779Met	VAR_032966	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032966	- Deafness autosomal dominant type 6 (DFNA6) [MIM:600965]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Gly780Arg	VAR_011313	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011313	- Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Arg818Cys	VAR_011314	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_011314	rs35932623 Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Leu829Pro	VAR_032967	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032967	- Deafness autosomal dominant type 6 (DFNA6) [MIM:600965]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Gly831Asp	VAR_032968	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_032968	rs28937895 Deafness autosomal dominant type 6 (DFNA6) [MIM:600965]	SWISS	No Domain	N/A	NULL
7466	6136319	Disease	p.Pro885Leu	VAR_009119	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_009119	- Wolfram syndrome (WFS) [MIM:222300]	SWISS	No Domain	N/A	NULL
8838	34098394	Disease	p.Cys78Arg	VAR_016225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016225	- Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]	SWISS	79	smart00121	4507925,NP_003871
8838	34098394	Disease	p.Cys78Arg	VAR_016225	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_016225	- Progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]	SWISS	61	pfam00219	4507925,NP_003871
65266	41688789	Disease	p.Glu562Lys	VAR_017588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017588	- Pseudohypoaldosteronism type II (PHAII) [MIM:145260]	SWISS	361_G	cd05586	34365793,NP_115763
65266	41688789	Disease	p.Glu562Lys	VAR_017588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017588	- Pseudohypoaldosteronism type II (PHAII) [MIM:145260]	SWISS	1356	COG0515	34365793,NP_115763
65266	41688789	Disease	p.Asp564Ala	VAR_017589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017589	- Pseudohypoaldosteronism type II (PHAII) [MIM:145260]	SWISS	363	cd05586	34365793,NP_115763
65266	41688789	Disease	p.Asp564Ala	VAR_017589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017589	- Pseudohypoaldosteronism type II (PHAII) [MIM:145260]	SWISS	1358	COG0515	34365793,NP_115763
65266	41688789	Disease	p.Gln565Glu	VAR_017590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017590	- Pseudohypoaldosteronism type II (PHAII) [MIM:145260]	SWISS	364	cd05586	34365793,NP_115763
65266	41688789	Disease	p.Gln565Glu	VAR_017590	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017590	- Pseudohypoaldosteronism type II (PHAII) [MIM:145260]	SWISS	1359	COG0515	34365793,NP_115763
65266	41688789	Disease	p.Arg1185Cys	VAR_017591	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017591	- Pseudohypoaldosteronism type II (PHAII) [MIM:145260]	SWISS	No Domain	N/A	34365793,NP_115763
80326	14424011	Disease	p.Arg128Gln	VAR_062510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062510	- Odonto-onycho-dermal dysplasia (OODD) [MIM:257980]	SWISS	157	pfam00110	16936520,NP_079492
80326	14424011	Disease	p.Arg128Gln	VAR_062510	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062510	- Odonto-onycho-dermal dysplasia (OODD) [MIM:257980]	SWISS	74	smart00097	16936520,NP_079492
80326	14424011	Disease	p.Phe228Ile	VAR_062511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062511	- Odonto-onycho-dermal dysplasia (OODD) [MIM:257980]	SWISS	303	pfam00110	16936520,NP_079492
80326	14424011	Disease	p.Phe228Ile	VAR_062511	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062511	- Odonto-onycho-dermal dysplasia (OODD) [MIM:257980]	SWISS	169	smart00097	16936520,NP_079492
7480	20532419	Disease	p.Arg332Trp	VAR_062516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062516	- Split-hand/foot malformation type 6 (SHFM6) [MIM:225300]	SWISS	351	smart00097	16936522,NP_003385
7480	20532419	Disease	p.Arg332Trp	VAR_062516	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062516	- Split-hand/foot malformation type 6 (SHFM6) [MIM:225300]	SWISS	691	pfam00110	16936522,NP_003385
54361	20532425	Disease	p.Leu12Pro	VAR_043497	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043497	- Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000]	SWISS	No Domain	N/A	17402922,NP_110388
54361	20532425	Disease	p.Arg83Cys	VAR_043498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043498	- Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000]	SWISS	55	pfam00110	17402922,NP_110388
54361	20532425	Disease	p.Arg83Cys	VAR_043498	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043498	- Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000]	SWISS	42	smart00097	17402922,NP_110388
54361	20532425	Disease	p.Ala114Val	VAR_043499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043499	- Female sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) [MIM:611812]	SWISS	164	pfam00110	17402922,NP_110388
54361	20532425	Disease	p.Ala114Val	VAR_043499	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043499	- Female sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) [MIM:611812]	SWISS	81	smart00097	17402922,NP_110388
54361	20532425	Disease	p.Glu216Gly	VAR_034703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034703	- Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000]	SWISS	401	pfam00110	17402922,NP_110388
54361	20532425	Disease	p.Glu216Gly	VAR_034703	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_034703	- Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000]	SWISS	252	smart00097	17402922,NP_110388
7476	145559540	Disease	p.Ala109Thr	VAR_030673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030673	- Fuhrmann syndrome [MIM:228930]	SWISS	81	smart00097	17505191,NP_004616
7476	145559540	Disease	p.Ala109Thr	VAR_030673	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030673	- Fuhrmann syndrome [MIM:228930]	SWISS	164	pfam00110	17505191,NP_004616
7476	145559540	Disease	p.Arg292Cys	VAR_030674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030674	- Limb/pelvis-hypoplasia/aplasia syndrome (LPHAS) [MIM:276820]	SWISS	351	smart00097	17505191,NP_004616
7476	145559540	Disease	p.Arg292Cys	VAR_030674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_030674	- Limb/pelvis-hypoplasia/aplasia syndrome (LPHAS) [MIM:276820]	SWISS	691	pfam00110	17505191,NP_004616
7486	6136393	Disease	p.Lys125Asn	VAR_026588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026588	- Werner syndrome (WRN) [MIM:277700]	SWISS	97	cd06148	NULL
7486	6136393	Disease	p.Lys125Asn	VAR_026588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026588	- Werner syndrome (WRN) [MIM:277700]	SWISS	142	smart00474	NULL
7486	6136393	Disease	p.Lys125Asn	VAR_026588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026588	- Werner syndrome (WRN) [MIM:277700]	SWISS	122	cd06146	NULL
7486	6136393	Disease	p.Lys125Asn	VAR_026588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026588	- Werner syndrome (WRN) [MIM:277700]	SWISS	58	cd09018	NULL
7486	6136393	Disease	p.Lys125Asn	VAR_026588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026588	- Werner syndrome (WRN) [MIM:277700]	SWISS	84	cd00007	NULL
7486	6136393	Disease	p.Lys125Asn	VAR_026588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026588	- Werner syndrome (WRN) [MIM:277700]	SWISS	89	cd06142	NULL
7486	6136393	Disease	p.Lys125Asn	VAR_026588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026588	- Werner syndrome (WRN) [MIM:277700]	SWISS	89	pfam01612	NULL
7486	6136393	Disease	p.Lys125Asn	VAR_026588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026588	- Werner syndrome (WRN) [MIM:277700]	SWISS	68	cd06129	NULL
7486	6136393	Disease	p.Lys125Asn	VAR_026588	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026588	- Werner syndrome (WRN) [MIM:277700]	SWISS	141	cd06141	NULL
7486	6136393	Disease	p.Lys135Glu	VAR_026589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026589	- Werner syndrome (WRN) [MIM:277700]	SWISS	108	cd06148	NULL
7486	6136393	Disease	p.Lys135Glu	VAR_026589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026589	- Werner syndrome (WRN) [MIM:277700]	SWISS	165	smart00474	NULL
7486	6136393	Disease	p.Lys135Glu	VAR_026589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026589	- Werner syndrome (WRN) [MIM:277700]	SWISS	146	cd06146	NULL
7486	6136393	Disease	p.Lys135Glu	VAR_026589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026589	- Werner syndrome (WRN) [MIM:277700]	SWISS	68	cd09018	NULL
7486	6136393	Disease	p.Lys135Glu	VAR_026589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026589	- Werner syndrome (WRN) [MIM:277700]	SWISS	94	cd00007	NULL
7486	6136393	Disease	p.Lys135Glu	VAR_026589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026589	- Werner syndrome (WRN) [MIM:277700]	SWISS	104	cd06142	NULL
7486	6136393	Disease	p.Lys135Glu	VAR_026589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026589	- Werner syndrome (WRN) [MIM:277700]	SWISS	99	pfam01612	NULL
7486	6136393	Disease	p.Lys135Glu	VAR_026589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026589	- Werner syndrome (WRN) [MIM:277700]	SWISS	78	cd06129	NULL
7486	6136393	Disease	p.Lys135Glu	VAR_026589	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026589	- Werner syndrome (WRN) [MIM:277700]	SWISS	155	cd06141	NULL
7490	139778	Disease	p.Arg312Gln	VAR_015053	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015053	- Isolated diffuse mesangial sclerosis (IDMS) [MIM:256370]	SWISS	349	pfam02165	NULL
7490	139778	Disease	p.Cys330Tyr	VAR_007743	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007743	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	9	pfam00096	NULL
7490	139778	Disease	p.Met342Arg	VAR_015054	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015054	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	27	pfam00096	NULL
7490	139778	Disease	p.Cys355Tyr	VAR_015055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015055	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	3	pfam00096	NULL
7490	139778	Disease	p.Cys355Tyr	VAR_015055	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015055	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	3	smart00355	NULL
7490	139778	Disease	p.Cys360Gly	VAR_007744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007744	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	9	pfam00096	NULL
7490	139778	Disease	p.Cys360Gly	VAR_007744	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007744	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	8	smart00355	NULL
7490	139778	Disease	p.Cys360Tyr	VAR_043800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043800	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	9	pfam00096	NULL
7490	139778	Disease	p.Cys360Tyr	VAR_043800	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043800	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	8	smart00355	NULL
7490	139778	Disease	p.Arg366Cys	VAR_007745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007745	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	18	pfam00096	NULL
7490	139778	Disease	p.Arg366Cys	VAR_007745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007745	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	21	smart00355	NULL
7490	139778	Disease	p.Arg366Cys	VAR_007745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007745	- Meacham syndrome [MIM:608978]	SWISS	18	pfam00096	NULL
7490	139778	Disease	p.Arg366Cys	VAR_007745	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007745	- Meacham syndrome [MIM:608978]	SWISS	21	smart00355	NULL
7490	139778	Disease	p.Arg366His	VAR_007746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007746	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	18	pfam00096	NULL
7490	139778	Disease	p.Arg366His	VAR_007746	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007746	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	21	smart00355	NULL
7490	139778	Disease	p.Arg366Leu	VAR_043802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043802	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	18	pfam00096	NULL
7490	139778	Disease	p.Arg366Leu	VAR_043802	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043802	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	21	smart00355	NULL
7490	139778	Disease	p.Gln369Pro	VAR_043803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043803	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	24	pfam00096	NULL
7490	139778	Disease	p.Gln369Pro	VAR_043803	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043803	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	24	smart00355	NULL
7490	139778	Disease	p.His373Gln	VAR_007747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007747	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	28	pfam00096	NULL
7490	139778	Disease	p.His373Gln	VAR_007747	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007747	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	28	smart00355	NULL
7490	139778	Disease	p.His373Tyr	VAR_015056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015056	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	28	pfam00096	NULL
7490	139778	Disease	p.His373Tyr	VAR_015056	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015056	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	28	smart00355	NULL
7490	139778	Disease	p.His377Arg	VAR_015057	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015057	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	No Domain	N/A	NULL
7490	139778	Disease	p.His377Tyr	VAR_007748	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007748	- Isolated diffuse mesangial sclerosis (IDMS) [MIM:256370]	SWISS	No Domain	N/A	NULL
7490	139778	Disease	p.Phe383Leu	VAR_007749	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007749	- Isolated diffuse mesangial sclerosis (IDMS) [MIM:256370]	SWISS	No Domain	N/A	NULL
7490	139778	Disease	p.Cys385Arg	VAR_015058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015058	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	3	smart00355	NULL
7490	139778	Disease	p.Cys385Arg	VAR_015058	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015058	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	3	pfam00096	NULL
7490	139778	Disease	p.Cys388Phe	VAR_015059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015059	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	8	smart00355	NULL
7490	139778	Disease	p.Cys388Phe	VAR_015059	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015059	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	9	pfam00096	NULL
7490	139778	Disease	p.Cys388Tyr	VAR_043806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043806	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	8	smart00355	NULL
7490	139778	Disease	p.Cys388Tyr	VAR_043806	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043806	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	9	pfam00096	NULL
7490	139778	Disease	p.Phe392Leu	VAR_015060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015060	- Frasier syndrome (FS) [MIM:136680]	SWISS	19	smart00355	NULL
7490	139778	Disease	p.Phe392Leu	VAR_015060	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015060	- Frasier syndrome (FS) [MIM:136680]	SWISS	16	pfam00096	NULL
7490	139778	Disease	p.Arg394Pro	VAR_043808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043808	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	21	smart00355	NULL
7490	139778	Disease	p.Arg394Pro	VAR_043808	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043808	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	18	pfam00096	NULL
7490	139778	Disease	p.Arg394Gln	VAR_015061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015061	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	21	smart00355	NULL
7490	139778	Disease	p.Arg394Gln	VAR_015061	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015061	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	18	pfam00096	NULL
7490	139778	Disease	p.Arg394Trp	VAR_007750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007750	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	21	smart00355	NULL
7490	139778	Disease	p.Arg394Trp	VAR_007750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007750	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	18	pfam00096	NULL
7490	139778	Disease	p.Arg394Trp	VAR_007750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007750	- Meacham syndrome [MIM:608978]	SWISS	21	smart00355	NULL
7490	139778	Disease	p.Arg394Trp	VAR_007750	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007750	- Meacham syndrome [MIM:608978]	SWISS	18	pfam00096	NULL
7490	139778	Disease	p.Asp396Gly	VAR_007752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007752	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	23	smart00355	NULL
7490	139778	Disease	p.Asp396Gly	VAR_007752	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007752	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	23	pfam00096	NULL
7490	139778	Disease	p.Asp396Asn	VAR_007751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007751	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	23	smart00355	NULL
7490	139778	Disease	p.Asp396Asn	VAR_007751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007751	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	23	pfam00096	NULL
7490	139778	Disease	p.Asp396Asn	VAR_007751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007751	- Isolated diffuse mesangial sclerosis (IDMS) [MIM:256370]	SWISS	23	smart00355	NULL
7490	139778	Disease	p.Asp396Asn	VAR_007751	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007751	- Isolated diffuse mesangial sclerosis (IDMS) [MIM:256370]	SWISS	23	pfam00096	NULL
7490	139778	Disease	p.Asp396Tyr	VAR_043809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043809	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	23	smart00355	NULL
7490	139778	Disease	p.Asp396Tyr	VAR_043809	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043809	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	23	pfam00096	NULL
7490	139778	Disease	p.Leu398Pro	VAR_015062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015062	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	25	smart00355	NULL
7490	139778	Disease	p.Leu398Pro	VAR_015062	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015062	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	25	pfam00096	NULL
7490	139778	Disease	p.His401Tyr	VAR_043811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043811	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	28	smart00355	NULL
7490	139778	Disease	p.His401Tyr	VAR_043811	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043811	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	28	pfam00096	NULL
7490	139778	Disease	p.His405Arg	VAR_043812	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_043812	- Denys-Drash syndrome (DDS) [MIM:194080]	SWISS	No Domain	N/A	NULL
7498	2506326	Disease	p.Arg149Cys	VAR_045900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045900	- Xanthinuria type 1 (XU1) [MIM:278300]	SWISS	163	COG2080	91823271,NP_000370
7498	2506326	Disease	p.Arg149Cys	VAR_045900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045900	- Xanthinuria type 1 (XU1) [MIM:278300]	SWISS	169	COG4630	91823271,NP_000370
7498	2506326	Disease	p.Arg149Cys	VAR_045900	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_045900	- Xanthinuria type 1 (XU1) [MIM:278300]	SWISS	207	pfam01799	91823271,NP_000370
7504	85700269	Disease	p.Arg222Gly	VAR_013817	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013817	- McLeod syndrome (MLS) [MIM:314850]	SWISS	374	pfam09815	10835267,NP_066569
7504	85700269	Disease	p.Cys294Arg	VAR_013818	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_013818	rs28933690 McLeod syndrome (MLS) [MIM:314850]	SWISS	448	pfam09815	10835267,NP_066569
7504	85700269	Disease	p.Glu327Lys	VAR_023581	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023581	- McLeod syndrome (MLS) [MIM:314850]	SWISS	481	pfam09815	10835267,NP_066569
7507	139816	Disease	p.Pro94Leu	VAR_007727	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007727	- Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]	SWISS	159	COG5145	4507937,NP_000371
7507	139816	Disease	p.Cys108Phe	VAR_007728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007728	- Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]	SWISS	9	pfam01286	4507937,NP_000371
7507	139816	Disease	p.Cys108Phe	VAR_007728	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007728	- Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]	SWISS	175	COG5145	4507937,NP_000371
7507	139816	Disease	p.Arg130Lys	VAR_007729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007729	- Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]	SWISS	31	pfam01286	4507937,NP_000371
7507	139816	Disease	p.Arg130Lys	VAR_007729	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007729	- Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]	SWISS	198	COG5145	4507937,NP_000371
7507	139816	Disease	p.Gln185His	VAR_007730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007730	- Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]	SWISS	52	pfam05181	4507937,NP_000371
7507	139816	Disease	p.Gln185His	VAR_007730	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007730	- Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]	SWISS	253	COG5145	4507937,NP_000371
7507	139816	Disease	p.His244Arg	VAR_007731	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007731	- Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]	SWISS	319	COG5145	4507937,NP_000371
7508	296453081	Disease	p.Pro334His	VAR_005846	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_005846	- Xeroderma pigmentosum complementation group C (XP-C) [MIM:278720]	SWISS	47	COG5535	224809295,NP_004619
8565	13638438	Disease	p.Gly41Arg	VAR_026681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026681	- Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:608323]	SWISS	6	cd00805	4507947,NP_003671
8565	13638438	Disease	p.Gly41Arg	VAR_026681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026681	- Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:608323]	SWISS	49	COG0162	4507947,NP_003671
8565	13638438	Disease	p.Gly41Arg	VAR_026681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026681	- Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:608323]	SWISS	11	COG0180	4507947,NP_003671
8565	13638438	Disease	p.Gly41Arg	VAR_026681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026681	- Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:608323]	SWISS	5	cd00806	4507947,NP_003671
8565	13638438	Disease	p.Gly41Arg	VAR_026681	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026681	- Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:608323]	SWISS	12	pfam00579	4507947,NP_003671
8565	13638438	Disease	p.Glu196Lys	VAR_026684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026684	- Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:608323]	SWISS	192	cd00805	4507947,NP_003671
8565	13638438	Disease	p.Glu196Lys	VAR_026684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026684	- Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:608323]	SWISS	239	COG0162	4507947,NP_003671
8565	13638438	Disease	p.Glu196Lys	VAR_026684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026684	- Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:608323]	SWISS	401_G	COG0180	4507947,NP_003671
8565	13638438	Disease	p.Glu196Lys	VAR_026684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026684	- Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:608323]	SWISS	304	cd00806	4507947,NP_003671
8565	13638438	Disease	p.Glu196Lys	VAR_026684	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026684	- Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:608323]	SWISS	223	pfam00579	4507947,NP_003671
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	145	cd06648	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	191	cd05057	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	129	cd08219	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	152	cd08528	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	130	cd08225	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	153	cd05091	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	153	cd05090	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	156	cd05048	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	132	cd05034	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	172	cd07834	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	136	cd08224	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	135	cd07847	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	147	cd05613	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	131	cd06615	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	135	cd05065	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	134	cd05583	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	136	cd06627	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	215	cd05046	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	156	cd05049	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	138	cd05109	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	147	cd07864	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	152	cd05094	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	153	cd05088	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	137	cd05081	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	149	cd05093	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	133	cd07872	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	144	cd06616	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	132	cd07871	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	136	cd05080	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	133	cd07844	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	151	cd05092	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	138	cd05111	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	133	cd07873	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	139	cd06644	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	138	cd05110	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	144	cd06655	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	144	cd06656	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	268	cd05055	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	144	cd06607	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	148	cd06618	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	145	cd06654	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	181	cd06614	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	541	smart00221	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	136	cd08222	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	130	cd08218	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	129	cd07860	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	132	cd07836	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	426	smart00219	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	285	pfam07714	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	220	pfam00069	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	131	cd05059	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	152	cd05035	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	156	cd05075	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	142	cd05074	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	142	cd06624	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	209	cd05103	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	135	cd06651	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	207	cd05102	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	135	cd06653	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	130	cd05615	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	137	cd05063	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	190	cd05051	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	133	cd06649	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	141	cd06610	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	140	cd06637	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	146	cd05076	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	135	cd08529	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	135	cd05039	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	131	cd07861	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	155	cd07835	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	146	cd07841	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	150	cd06636	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	146	cd06659	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	257	cd05054	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	130	cd07846	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	431	smart00220	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	130	cd05578	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	253	cd05104	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	269	cd05105	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	169	cd05098	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	152	cd05574	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	134	cd05087	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	123	cd05084	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	135	cd08530	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	172	cd08215	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	245	cd05581	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	161	cd08217	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	131	cd05078	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	134	cd05077	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	134	cd05148	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	129	cd05086	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	138	cd05118	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	178	cd07840	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	151	cd07833	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	181	cd07830	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	155	cd07838	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	139	cd06629	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	133	cd05040	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	125	cd05041	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	139	cd06917	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	124	cd05116	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	132	cd05042	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	124	cd05115	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	131	cd05060	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	148	cd05037	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	338	cd00192	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	138	cd05079	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	129	cd05083	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	138	cd05108	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	171	cd05043	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	165	cd05056	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	150	cd07845	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	153	cd06638	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	164	cd06639	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	141	cd05047	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	210	cd06606	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	169	cd07829	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	131	cd05631	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	131	cd05632	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	131	cd05605	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	139	cd05044	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	131	cd08221	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	123	cd05085	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	126	cd05608	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	124	cd05607	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	139	cd08220	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	131	cd06626	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	197	cd05572	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	140	cd05592	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	370	cd00180	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	645	cd05123	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	135	cd06625	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	130	cd07831	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	133	cd05584	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	130	cd05589	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	125	cd05619	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	127	cd05582	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	127	cd05570	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	144	cd07832	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	134	cd05058	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	125	cd05579	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	144	cd06612	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	132	cd06630	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	148	cd06632	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	133	cd06631	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	129	cd05577	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	251	cd05106	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	179	cd05053	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	163	cd05099	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	163	cd05100	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	170	cd05095	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	162	cd05050	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	185	cd05096	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	147	cd05036	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	160	cd05097	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	148	cd05062	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	193	cd05032	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	132	cd06643	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	129	cd05112	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	129	cd05114	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	130	cd05113	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	135	cd05066	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	131	cd05070	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	167	cd05033	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	136	cd05064	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	135	cd06645	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	133	cd05052	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	157	cd05038	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	131	cd05069	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	133	cd06650	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	135	cd06620	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	149	cd05061	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	134	cd05068	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	131	cd05067	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	132	cd05073	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	132	cd05072	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	131	cd05082	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	132	cd06613	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	132	cd07870	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	131	cd05071	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	154	cd06635	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	135	cd08229	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	156	cd05045	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	137	cd06628	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	163	cd05122	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	144	cd06634	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	130	cd06641	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	130	cd06642	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	166	cd05101	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	153	cd07865	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	130	cd06640	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	271	cd05107	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	135	cd08228	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	177	cd06623	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	134	cd06617	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	186	cd05573	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	148	cd05089	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	183	cd05580	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	139	cd06621	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	130	cd05612	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	145	cd06619	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	147	cd06605	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	131	cd05601	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	131	cd08223	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	152	cd06609	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	144	cd06622	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	147	cd07837	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	134	cd06611	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	128	cd07839	31455611,NP_001070
7535	1177044	Disease	p.Arg465His	VAR_015538	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_015538	- Selective T-cell defect (STD) [MIM:176947]	SWISS	172	cd06608	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	195	cd06648	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	244	cd05057	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	179	cd08219	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	202	cd08528	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	181	cd08225	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	205	cd05091	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	205	cd05090	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	208	cd05048	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	193	cd05034	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	268	cd07834	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	186	cd08224	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	187	cd07847	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	200	cd05613	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	179	cd06615	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	190	cd05065	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	188	cd05583	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	224	cd06627	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	266	cd05046	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	213	cd05049	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	190	cd05109	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	200	cd07864	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	211	cd05094	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	202	cd05088	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	190	cd05081	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	201	cd05093	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	184	cd07872	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	197	cd06616	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	200	cd07871	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	189	cd05080	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	184	cd07844	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	203	cd05092	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	190	cd05111	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	184	cd07873	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	194	cd06644	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	190	cd05110	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	194	cd06655	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	194	cd06656	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	320	cd05055	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	193	cd06607	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	199	cd06618	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	195	cd06654	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	233	cd06614	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	833	smart00221	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	185	cd08222	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	180	cd08218	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	180	cd07860	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	183	cd07836	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	568	smart00219	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	376	pfam07714	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	331	pfam00069	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	182	cd05059	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	204	cd05035	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	208	cd05075	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	194	cd05074	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	195	cd06624	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	261	cd05103	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	188	cd06651	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	259	cd05102	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	188	cd06653	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	180	cd05615	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	190	cd05063	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	251	cd05051	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	181	cd06649	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	203	cd06610	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	195	cd06637	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	201	cd05076	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	185	cd08529	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	185	cd05039	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	182	cd07861	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	207	cd07835	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	217	cd07841	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	205	cd06636	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	196	cd06659	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	310	cd05054	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	182	cd07846	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	761	smart00220	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	190	cd05578	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	305	cd05104	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	321	cd05105	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	221	cd05098	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	254	cd05574	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	193	cd05087	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	175	cd05084	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	187	cd08530	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	248	cd08215	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	430	cd05581	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	252	cd08217	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	186	cd05078	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	188	cd05077	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	185	cd05148	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	188	cd05086	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	192	cd05118	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	279	cd07840	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	239	cd07833	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	297	cd07830	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	293	cd07838	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	195	cd06629	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	192	cd05040	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	177	cd05041	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	193	cd06917	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	177	cd05116	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	192	cd05042	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	177	cd05115	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	184	cd05060	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	210	cd05037	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	417	cd00192	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	191	cd05079	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	176	cd05083	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	190	cd05108	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	226	cd05043	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	218	cd05056	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	203	cd07845	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	208	cd06638	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	219	cd06639	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	190	cd05047	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	325	cd06606	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	234	cd07829	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	180	cd05631	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	180	cd05632	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	180	cd05605	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	198	cd05044	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	183	cd08221	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	174	cd05085	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	176	cd05608	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	174	cd05607	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	189	cd08220	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	223	cd06626	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	250	cd05572	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	191	cd05592	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	664	cd00180	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	791	cd05123	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	189	cd06625	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	186	cd07831	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	183	cd05584	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	180	cd05589	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	175	cd05619	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	177	cd05582	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	177	cd05570	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	202	cd07832	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	188	cd05058	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	723	cd05579	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	199	cd06612	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	188	cd06630	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	205	cd06632	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	189	cd06631	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	180	cd05577	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	303	cd05106	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	231	cd05053	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	215	cd05099	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	215	cd05100	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	222	cd05095	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	214	cd05050	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	248	cd05096	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	203	cd05036	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	212	cd05097	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	200	cd05062	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	245	cd05032	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	187	cd06643	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	180	cd05112	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	180	cd05114	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	181	cd05113	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	188	cd05066	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	182	cd05070	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	224	cd05033	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	188	cd05064	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	188	cd06645	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	184	cd05052	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	217	cd05038	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	182	cd05069	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	181	cd06650	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	185	cd06620	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	201	cd05061	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	188	cd05068	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	182	cd05067	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	183	cd05073	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	183	cd05072	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	178	cd05082	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	188	cd06613	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	183	cd07870	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	182	cd05071	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	203	cd06635	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	185	cd08229	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	208	cd05045	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	195	cd06628	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	224	cd05122	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	193	cd06634	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	180	cd06641	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	180	cd06642	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	218	cd05101	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	210	cd07865	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	180	cd06640	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	323	cd05107	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	185	cd08228	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	238	cd06623	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	187	cd06617	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	324	cd05573	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	197	cd05089	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	287	cd05580	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	188	cd06621	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	177	cd05612	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	193	cd06619	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	203	cd06605	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	193_G	cd05601	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	181	cd08223	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	210	cd06609	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	204	cd06622	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	199	cd07837	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	184	cd06611	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	179	cd07839	31455611,NP_001070
7535	1177044	Disease	p.Ser518Arg	VAR_006351	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_006351	- Selective T-cell defect (STD) [MIM:176947]	SWISS	232	cd06608	31455611,NP_001070
7704	90109930	Disease	p.Met617Val	VAR_054912	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054912	- Skeletal defects genital hypoplasia and mental retardation (SGYMR) [MIM:612447]	SWISS	25	smart00355	66932932,NP_001018011|21359888,NP_005997
51114	28202113	Disease	p.Arg148Trp	VAR_062674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062674	- Mental retardation syndromic X-linked ZDHHC9-related (MRXSZ) [MIM:300799]	SWISS	142	COG5273	56682972,NP_057116|56682974,NP_001008223
51114	28202113	Disease	p.Arg148Trp	VAR_062674	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062674	- Mental retardation syndromic X-linked ZDHHC9-related (MRXSZ) [MIM:300799]	SWISS	12	pfam01529	56682972,NP_057116|56682974,NP_001008223
51114	28202113	Disease	p.Pro150Ser	VAR_062675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062675	- Mental retardation syndromic X-linked ZDHHC9-related (MRXSZ) [MIM:300799]	SWISS	144	COG5273	56682972,NP_057116|56682974,NP_001008223
51114	28202113	Disease	p.Pro150Ser	VAR_062675	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_062675	- Mental retardation syndromic X-linked ZDHHC9-related (MRXSZ) [MIM:300799]	SWISS	14	pfam01529	56682972,NP_057116|56682974,NP_001008223
6935	6166575	Disease	p.Asn78Thr	VAR_063759	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063759	- Corneal dystrophy Fuchs endothelial type 6 (FECD6) [MIM:613270]	SWISS	No Domain	N/A	189409128,NP_110378
6935	6166575	Disease	p.Pro649Ala	VAR_063760	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063760	- Corneal dystrophy Fuchs endothelial type 6 (FECD6) [MIM:613270]	SWISS	No Domain	N/A	189409128,NP_110378
6935	6166575	Disease	p.Gln810Pro	VAR_063761	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063761	- Corneal dystrophy Fuchs endothelial type 6 (FECD6) [MIM:613270]	SWISS	No Domain	N/A	189409128,NP_110378
6935	6166575	Disease	p.Gln840Pro	VAR_063762	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063762	- Corneal dystrophy Fuchs endothelial type 6 (FECD6) [MIM:613270]	SWISS	No Domain	N/A	189409128,NP_110378
6935	6166575	Disease	p.Ala905Thr	VAR_063763	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_063763	- Corneal dystrophy Fuchs endothelial type 6 (FECD6) [MIM:613270]	SWISS	2	smart00355	189409128,NP_110378
9839	13124503	Disease	p.Arg953Gly	VAR_027017	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027017	- Mowat-Wilson syndrome (MWIS) [MIM:235730]	SWISS	No Domain	N/A	7662184,NP_055610
9839	13124503	Disease	p.Gln1119Arg	VAR_027018	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027018	- Mowat-Wilson syndrome (MWIS) [MIM:235730]	SWISS	No Domain	N/A	7662184,NP_055610
346171	150416327	Disease	p.Arg166His	VAR_054771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054771	- Transient neonatal diabetes mellitus type 1 (TNDM1) [MIM:601410]	SWISS	29	smart00355	NULL
346171	150416327	Disease	p.Arg166His	VAR_054771	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054771	- Transient neonatal diabetes mellitus type 1 (TNDM1) [MIM:601410]	SWISS	29	pfam00096	NULL
346171	150416327	Disease	p.His193Asn	VAR_054772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054772	- Transient neonatal diabetes mellitus type 1 (TNDM1) [MIM:601410]	SWISS	28	pfam00096	NULL
346171	150416327	Disease	p.His193Asn	VAR_054772	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054772	- Transient neonatal diabetes mellitus type 1 (TNDM1) [MIM:601410]	SWISS	28	smart00355	NULL
346171	150416327	Disease	p.His374Asp	VAR_054773	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_054773	- Transient neonatal diabetes mellitus type 1 (TNDM1) [MIM:601410]	SWISS	No Domain	N/A	NULL
23414	126302543	Disease	p.Glu30Gly	VAR_017942	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017942	- Tetralogy of Fallot (TOF) [MIM:187500]	SWISS	No Domain	N/A	223890230,NP_036214
23414	126302543	Disease	p.Ser657Gly	VAR_017943	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_017943	rs28374544 Tetralogy of Fallot (TOF) [MIM:187500]	SWISS	No Domain	N/A	223890230,NP_036214
118813	74744927	Disease	p.Gly191Val	VAR_027269	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_027269	rs35077384 Spastic paraplegia autosomal dominant type 33 (SPG33) [MIM:610244]	SWISS	No Domain	N/A	50557644,NP_653189
7546	20178334	Disease	p.Gln36Pro	VAR_023793	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023793	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	No Domain	N/A	22547197,NP_009060
7546	20178334	Disease	p.Asp37Asn	VAR_058592	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058592	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	No Domain	N/A	22547197,NP_009060
7546	20178334	Disease	p.Asp128Asn	VAR_058593	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058593	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	No Domain	N/A	22547197,NP_009060
7546	20178334	Disease	p.Asp152Phe	VAR_023794	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_023794	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	No Domain	N/A	22547197,NP_009060
7546	20178334	Disease	p.Ser272Asn	VAR_058594	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058594	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	No Domain	N/A	22547197,NP_009060
7546	20178334	Disease	p.His286Leu	VAR_058595	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058595	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	No Domain	N/A	22547197,NP_009060
7546	20178334	Disease	p.His286Gln	VAR_058596	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058596	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	No Domain	N/A	22547197,NP_009060
7546	20178334	Disease	p.His286Tyr	VAR_058597	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058597	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	No Domain	N/A	22547197,NP_009060
7546	20178334	Disease	p.His291Tyr	VAR_058598	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058598	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	No Domain	N/A	22547197,NP_009060
7546	20178334	Disease	p.Trp304Arg	VAR_058599	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058599	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	No Domain	N/A	22547197,NP_009060
7546	20178334	Disease	p.Phe314Cys	VAR_058600	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058600	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	No Domain	N/A	22547197,NP_009060
7546	20178334	Disease	p.Arg325Leu	VAR_058601	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058601	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	No Domain	N/A	22547197,NP_009060
7546	20178334	Disease	p.Arg325Ser	VAR_058602	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058602	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	No Domain	N/A	22547197,NP_009060
7546	20178334	Disease	p.His327Tyr	VAR_058603	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058603	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	No Domain	N/A	22547197,NP_009060
7546	20178334	Disease	p.Cys335Phe	VAR_058604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058604	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	3	smart00355	22547197,NP_009060
7546	20178334	Disease	p.Cys335Phe	VAR_058604	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058604	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	3	pfam00096	22547197,NP_009060
7546	20178334	Disease	p.Arg373Pro	VAR_058605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058605	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	15	pfam00096	22547197,NP_009060
7546	20178334	Disease	p.Arg373Pro	VAR_058605	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058605	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	18	smart00355	22547197,NP_009060
7546	20178334	Disease	p.Tyr402Asn	VAR_058606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058606	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	19	smart00355	22547197,NP_009060
7546	20178334	Disease	p.Tyr402Asn	VAR_058606	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058606	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	16	pfam00096	22547197,NP_009060
7546	20178334	Disease	p.Thr403Lys	VAR_058607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058607	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	20	smart00355	22547197,NP_009060
7546	20178334	Disease	p.Thr403Lys	VAR_058607	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058607	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	17	pfam00096	22547197,NP_009060
7546	20178334	Disease	p.His404Arg	VAR_058608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058608	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	21	smart00355	22547197,NP_009060
7546	20178334	Disease	p.His404Arg	VAR_058608	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058608	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	18	pfam00096	22547197,NP_009060
7546	20178334	Disease	p.Arg409Trp	VAR_058609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058609	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	26	smart00355	22547197,NP_009060
7546	20178334	Disease	p.Arg409Trp	VAR_058609	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058609	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	26	pfam00096	22547197,NP_009060
7546	20178334	Disease	p.His415Gln	VAR_058610	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_058610	- Holoprosencephaly type 5 (HPE5) [MIM:609637]	SWISS	No Domain	N/A	22547197,NP_009060
7547	6137314	Disease	p.Cys253Ser	VAR_025633	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025633	- Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955]	SWISS	No Domain	N/A	4507973,NP_003404
7547	6137314	Disease	p.Trp255Gly	VAR_042416	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_042416	- Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955]	SWISS	No Domain	N/A	4507973,NP_003404
7547	6137314	Disease	p.His286Arg	VAR_025634	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025634	- Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955]	SWISS	No Domain	N/A	4507973,NP_003404
7547	6137314	Disease	p.Thr323Met	VAR_007753	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_007753	- Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955]	SWISS	No Domain	N/A	4507973,NP_003404
7547	6137314	Disease	p.Lys405Glu	VAR_025635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025635	- Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955]	SWISS	27	pfam00096	4507973,NP_003404
7547	6137314	Disease	p.Lys405Glu	VAR_025635	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_025635	- Visceral heterotaxy X-linked type 1 (HTX1) [MIM:306955]	SWISS	27	smart00355	4507973,NP_003404
10269	13432136	Disease	p.Trp340Arg	VAR_019308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019308	- Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612]	SWISS	311	COG0501	18379366,NP_005848
10269	13432136	Disease	p.Trp340Arg	VAR_019308	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019308	- Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612]	SWISS	174	pfam01435	18379366,NP_005848
7592	20141930	Disease	p.Pro153Leu	VAR_021785	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_021785	- Mental retardation X-linked type 89 (MRX89) [MIM:314995]	SWISS	No Domain	N/A	NULL
641339	94730686	Disease	p.Pro412Leu	VAR_026153	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_026153	- Mental retardation X-linked type 92 (MRX92) [MIM:300573]	SWISS	No Domain	N/A	89994742,NP_001034980
347344	55977803	Disease	p.Ser179Asn	VAR_019941	http://ca.expasy.org/cgi-bin/get-sprot-variant.pl?VAR_019941	rs28933691 Mental retardation X-linked type 45 (MRX45) [MIM:300498]	SWISS	7	COG5048	148727251,NP_009068
